Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values X1000gp3_AA X1000gp3_AC X1000gp3_AF X1000gp3_AFR_AF X1000gp3_AMR_AF X1000gp3_AN X1000gp3_CIEND X1000gp3_CIPOS X1000gp3_CS X1000gp3_DP X1000gp3_EAS_AF X1000gp3_END X1000gp3_EUR_AF X1000gp3_IMPRECISE X1000gp3_MC X1000gp3_MEINFO X1000gp3_MEND X1000gp3_MLEN X1000gp3_MSTART X1000gp3_NS X1000gp3_SAS_AF X1000gp3_SVLEN X1000gp3_SVTYPE X1000gp3_TSD ACHILLES_Lineage_Results_Top_Genes CGC_Cancer.Germline.Mut CGC_Cancer.Molecular.Genetics CGC_Cancer.Somatic.Mut CGC_Cancer.Syndrome CGC_Chr CGC_Chr.Band CGC_GeneID CGC_Name CGC_Other.Germline.Mut CGC_Tissue.Type COSMIC_n_overlapping_mutations COSMIC_overlapping_mutation_descriptions COSMIC_overlapping_primary_sites ClinVar_ASSEMBLY ClinVar_HGMD_ID ClinVar_SYM ClinVar_TYPE ClinVar_rs ESP_AA ESP_AAC ESP_AA_AC ESP_AA_AGE ESP_AA_GTC ESP_AvgAAsampleReadDepth ESP_AvgEAsampleReadDepth ESP_AvgSampleReadDepth ESP_CA ESP_CDP ESP_CG ESP_CP ESP_Chromosome ESP_DBSNP ESP_DP ESP_EA_AC ESP_EA_AGE ESP_EA_GTC ESP_EXOME_CHIP ESP_FG ESP_GL ESP_GM ESP_GS ESP_GTC ESP_GTS ESP_GWAS_PUBMED ESP_MAF ESP_PH ESP_PP ESP_Position ESP_TAC ESP_TotalAAsamplesCovered ESP_TotalEAsamplesCovered ESP_TotalSamplesCovered Ensembl_so_accession Ensembl_so_term Familial_Cancer_Genes_Reference Familial_Cancer_Genes_Synonym HGNC_Accession.Numbers HGNC_CCDS.IDs HGNC_Chromosome HGNC_Date.Modified HGNC_Date.Name.Changed HGNC_Date.Symbol.Changed HGNC_Ensembl.Gene.ID HGNC_Ensembl.ID.supplied.by.Ensembl. HGNC_Entrez.Gene.ID.supplied.by.NCBI. HGNC_Enzyme.IDs HGNC_Gene.family.description HGNC_HGNC.ID HGNC_Locus.Group HGNC_Locus.Type HGNC_Name.Synonyms HGNC_OMIM.ID.supplied.by.NCBI. HGNC_Previous.Names HGNC_Previous.Symbols HGNC_Primary.IDs HGNC_Pubmed.IDs HGNC_Record.Type HGNC_RefSeq.IDs HGNC_RefSeq.supplied.by.NCBI. HGNC_Secondary.IDs HGNC_Status HGNC_Synonyms HGNC_UCSC.ID.supplied.by.UCSC. HGNC_UniProt.ID.supplied.by.UniProt. HGNC_VEGA.IDs HGVS_coding_DNA_change HGVS_genomic_change HGVS_protein_change ORegAnno_bin UniProt_alt_uniprot_accessions build ccds_id contaminant_fraction contaminant_lod context covered dbNSFP_1000Gp1_AC dbNSFP_1000Gp1_AF dbNSFP_1000Gp1_AFR_AC dbNSFP_1000Gp1_AFR_AF dbNSFP_1000Gp1_AMR_AC dbNSFP_1000Gp1_AMR_AF dbNSFP_1000Gp1_ASN_AC dbNSFP_1000Gp1_ASN_AF dbNSFP_1000Gp1_EUR_AC dbNSFP_1000Gp1_EUR_AF dbNSFP_Ancestral_allele dbNSFP_CADD_phred dbNSFP_CADD_raw dbNSFP_CADD_raw_rankscore dbNSFP_ESP6500_AA_AF dbNSFP_ESP6500_EA_AF dbNSFP_Ensembl_geneid dbNSFP_Ensembl_transcriptid dbNSFP_FATHMM_pred dbNSFP_FATHMM_rankscore dbNSFP_FATHMM_score dbNSFP_GERP.._NR dbNSFP_GERP.._RS dbNSFP_GERP.._RS_rankscore dbNSFP_Interpro_domain dbNSFP_LRT_Omega dbNSFP_LRT_converted_rankscore dbNSFP_LRT_pred dbNSFP_LRT_score dbNSFP_LR_pred dbNSFP_LR_rankscore dbNSFP_LR_score dbNSFP_MutationAssessor_pred dbNSFP_MutationAssessor_rankscore dbNSFP_MutationAssessor_score dbNSFP_MutationTaster_converted_rankscore dbNSFP_MutationTaster_pred dbNSFP_MutationTaster_score dbNSFP_Polyphen2_HDIV_pred dbNSFP_Polyphen2_HDIV_rankscore dbNSFP_Polyphen2_HDIV_score dbNSFP_Polyphen2_HVAR_pred dbNSFP_Polyphen2_HVAR_rankscore dbNSFP_Polyphen2_HVAR_score dbNSFP_RadialSVM_pred dbNSFP_RadialSVM_rankscore dbNSFP_RadialSVM_score dbNSFP_Reliability_index dbNSFP_SIFT_converted_rankscore dbNSFP_SIFT_pred dbNSFP_SIFT_score dbNSFP_SLR_test_statistic dbNSFP_SiPhy_29way_logOdds dbNSFP_SiPhy_29way_logOdds_rankscore dbNSFP_SiPhy_29way_pi dbNSFP_UniSNP_ids dbNSFP_Uniprot_aapos dbNSFP_Uniprot_acc dbNSFP_Uniprot_id dbNSFP_aaalt dbNSFP_aapos dbNSFP_aapos_FATHMM dbNSFP_aapos_SIFT dbNSFP_aaref dbNSFP_cds_strand dbNSFP_codonpos dbNSFP_fold.degenerate dbNSFP_genename dbNSFP_hg18_pos.1.coor. dbNSFP_phastCons100way_vertebrate dbNSFP_phastCons100way_vertebrate_rankscore dbNSFP_phastCons46way_placental dbNSFP_phastCons46way_placental_rankscore dbNSFP_phastCons46way_primate dbNSFP_phastCons46way_primate_rankscore dbNSFP_phyloP100way_vertebrate dbNSFP_phyloP100way_vertebrate_rankscore dbNSFP_phyloP46way_placental dbNSFP_phyloP46way_placental_rankscore dbNSFP_phyloP46way_primate dbNSFP_phyloP46way_primate_rankscore dbNSFP_refcodon dbsnp_site gencode_transcript_name gencode_transcript_status gencode_transcript_tags gencode_transcript_type gene_id gene_type havana_transcript improper_pairs init_n_lod judgement map_Q0_reads n_alt_count n_alt_sum n_ref_count n_ref_sum normal_best_gt normal_power power score secondary_variant_classification strand t_alt_count t_alt_max_mapq t_alt_sum t_del_count t_ins_count t_lod_fstar t_ref_count t_ref_max_mapq t_ref_sum total_pairs transcript_id tumor_f tumor_power DDX11L1 100287102 __UNKNOWN__ __UNKNOWN__ 1 13273 13273 __UNKNOWN__ RNA SNP G G C rs531730856 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:13273G>C ENST00000456328.2 + 0 521 NR_046018.2|NR_051986.1 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 1 NA NA NA TCCTGGACCAGTGATACACCC 0.582 NA g||| 476 0.0950479 0.0204 0.1455 5008 , , NA 29117 0.0625 NA 0.1471 False NA ,,, NA NA NA 2504 0.1401 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AM992871 1p36.33 2012-02-23 2012-02-23 ENSG00000223972 ENSG00000223972 100287102 37102 pseudogene pseudogene DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 1 NA 19476624 Standard NR_046018 NA Approved uc010nxq.1 OTTHUMG00000000961 ENST00000456328.2: chr1.hg19:g.13273G>C NA hg19 0.02 -0.166688 CCAxTGA UNCOVERED NOVEL DDX11L1-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000362751.1 0 3.009546 KEEP 26 0 0 10 341 AG 0 0 0 + 5 49 191 0 0 16.730129 14 50 517 57 ENST00000456328.2 0.263158 0.353947 LINC00115 79854 __UNKNOWN__ __UNKNOWN__ 1 762273 762273 __UNKNOWN__ lincRNA SNP G G A rs3115849 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:762273G>A ENST00000473798.1 - 0 629 NR_024321.1 long intergenic non-protein coding RNA 115 NA NA NA CTGCCAAGGAGGAGCCCGCTT 0.597 NA .||| 3665 0.731829 0.3903 0.8112 5008 , , NA 14934 0.8879 NA 0.8688 False NA ,,, NA NA NA 2504 0.8354 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA BC017762 1p36.33 2012-10-12 2011-08-11 2011-08-11 ENSG00000225880 ENSG00000225880 79854 Long non-coding RNAs 26211 non-coding RNA RNA, long non-coding non-protein coding RNA 115 NCRNA00115 NA 12477932 Standard XR_017693 NR_024321 NA Approved FLJ22639 uc010nxx.2 OTTHUMG00000141258 ENST00000473798.1: chr1.hg19:g.762273G>A NA hg19 0.02 14.238631 GGAxGAG COVERED NOVEL LINC00115-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000280398.2 4 51.161602 KEEP 3 0 0 170 5912 GG 1 1 0 - 25 52 959 0 0 69.418881 304 60 11258 595 ENST00000473798.1 0.075988 1 LINC00115 79854 __UNKNOWN__ __UNKNOWN__ 1 762320 762320 __UNKNOWN__ lincRNA SNP C C T rs75333668 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:762320C>T ENST00000473798.1 - 0 582 NR_024321.1 long intergenic non-protein coding RNA 115 NA NA NA ACCCAACAGTCACCGCTAGTG 0.627 NA .||| 348 0.0694888 0.1029 0.072 5008 , , NA 15936 0.128 NA 0.001 False NA ,,, NA NA NA 2504 0.0327 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA BC017762 1p36.33 2012-10-12 2011-08-11 2011-08-11 ENSG00000225880 ENSG00000225880 79854 Long non-coding RNAs 26211 non-coding RNA RNA, long non-coding non-protein coding RNA 115 NCRNA00115 NA 12477932 Standard XR_017693 NR_024321 NA Approved FLJ22639 uc010nxx.2 OTTHUMG00000141258 ENST00000473798.1: chr1.hg19:g.762320C>T NA hg19 0.02 8.228729 AGTxACC COVERED NOVEL LINC00115-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000280398.2 2 34.001463 KEEP 8 0 0 113 3877 CC 1 1 0 - 10 60 334 0 0 20.850416 198 60 7264 379 ENST00000473798.1 0.048077 1 C1orf170 0 __UNKNOWN__ __UNKNOWN__ 1 916499 916499 __UNKNOWN__ Intron SNP G G A rs74357301 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:916499G>A ENST00000341290.2 - 2 66 C1orf170_ENST00000433179.2_Intron Q5SV97 PERM1_HUMAN NA NA regulation of transcription, DNA-templated (GO:0006355)|response to muscle activity (GO:0014850)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) NA TGCACATGCCGCCCCTGCCCC 0.637 NA G||| 36 0.0071885 0.0 0.0 5008 , , NA 15620 0.0347 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000341290.2:c.30+17C>T chr1.hg19:g.916499G>A NA Q6ZVZ7|Q9BRF2|S5G239 hg19 0.02 10.844661 GCCxCCC COVERED NOVEL C1orf170-001 PUTATIVE basic|appris_candidate protein_coding NA protein_coding OTTHUMT00000097943.2 3 18.621744 KEEP 0 0 0 62 2047 GG 1 1 0 - 14 60 453 1 0 27.725765 282 60 9152 439 ENST00000341290.2 0.047297 1 RP11-465B22.5 0 __UNKNOWN__ __UNKNOWN__ 1 1078138 1078138 __UNKNOWN__ lincRNA SNP G G A rs12022640 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:1078138G>A ENST00000416774.1 + 0 322 NR_038869.1 NA NA NA CACCCTGCACGTCAGGGGCCG 0.652 NA g||| 181 0.0361422 0.0 0.0259 5008 , , NA 17073 0.1538 NA 0.002 False NA ,,, NA NA NA 2504 0.0061 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000416774.1: chr1.hg19:g.1078138G>A NA hg19 0.02 8.930859 CACxTCA COVERED NOVEL RP11-465B22.5-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000002221.1 2 13.542952 KEEP 0 0 0 45 1521 GG 1 1 0 + 7 60 264 0 0 16.288699 212 60 7200 324 ENST00000416774.1 0.031963 1 TTLL10 254173 __UNKNOWN__ __UNKNOWN__ 1 1118212 1118212 __UNKNOWN__ Intron SNP T T C rs10907171 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:1118212T>C ENST00000379290.1 + 11 1089 TTLL10_ENST00000379288.3_Intron|TTLL10_ENST00000379289.1_Intron Q6ZVT0 TTL10_HUMAN tubulin tyrosine ligase-like family, member 10 NA NA cellular protein modification process (GO:0006464) haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1) 7 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) GGGGCGTGGCTGGGTTGGGGG 0.682 NA c||| 3206 0.640176 0.8283 0.5389 5008 , , NA 12553 0.7986 NA 0.2555 False NA ,,, NA NA NA 2504 0.6902 NA NA NA NA 0 , 3210,1078 1246,718,180 8 7 7 , -0.4 0 1 dbSNP_120 7 2148,6210 362,1424,2393 no intron,intron TTLL10 NM_001130045.1,NM_153254.2 , 1608,2142,2573 CC,CT,TT 25.6999,25.1399,42.3691 , , 1118212 5358,7288 2144 4179 6323 SO:0001627 intron_variant AK093438 CCDS8.1, CCDS44036.1 1p36.33 2014-01-28 2005-07-29 2005-07-29 ENSG00000162571 ENSG00000162571 254173 Tubulin tyrosine ligase-like family 26693 protein-coding gene gene with protein product tubulin tyrosine ligase-like family, member 5 TTLL5 NA 15890843 Standard NM_153254 NM_153254 NA Approved FLJ36119 uc001acy.2 Q6ZVT0 OTTHUMG00000000851 ENST00000379290.1:c.917-44T>C chr1.hg19:g.1118212T>C NA B1AMF6|Q5T2W4|Q5T2W5|Q8N9X2 hg19 CCDS44036.1 0.02 4.156174 GGCxGGG COVERED NOVEL TTLL10-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000002421.3 0 5.550851 KEEP 0 1 36 31 931 TT 0.999997 0.999997 0 + 7 60 248 0 0 16.11307 132 60 4694 205 ENST00000379290.1 0.05036 1 TTLL10 254173 __UNKNOWN__ __UNKNOWN__ 1 1120431 1120431 __UNKNOWN__ Missense_Mutation SNP G G A rs1320571 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:1120431G>A ENST00000379290.1 + 13 1516 c.1343G>A c.(1342-1344)aGt>aAt p.S448N TTLL10_ENST00000379288.3_Missense_Mutation_p.S375N|TTLL10_ENST00000379289.1_Missense_Mutation_p.S448N Q6ZVT0 TTL10_HUMAN tubulin tyrosine ligase-like family, member 10 448 TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}. NA S -> N (in dbSNP:rs1320571). cellular protein modification process (GO:0006464) haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1) 7 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CGCTACATCAGTGACACGTTC 0.607 NA A||| 928 0.185304 0.3608 0.0562 5008 , , NA 19922 0.1478 NA 0.0517 False NA ,,, NA NA NA 2504 0.2157 NA NA NA NA 0 A ASN/SER,ASN/SER 1416,2990 681.9+/-404.1 235,946,1022 97 75 83 1343,1124 4.5 0.7 1 dbSNP_88 83 452,8148 797.6+/-407.4 16,420,3864 yes missense,missense TTLL10 NM_001130045.1,NM_153254.2 46,46 251,1366,4886 AA,AG,GG 5.2558,32.138,14.3626 benign,benign 448/674,375/405 1120431 1868,11138 2203 4300 6503 SO:0001583 missense AK093438 CCDS8.1, CCDS44036.1 1p36.33 2014-01-28 2005-07-29 2005-07-29 ENSG00000162571 ENSG00000162571 254173 Tubulin tyrosine ligase-like family 26693 protein-coding gene gene with protein product tubulin tyrosine ligase-like family, member 5 TTLL5 NA 15890843 Standard NM_153254 NM_153254 NA Approved FLJ36119 uc001acy.2 Q6ZVT0 OTTHUMG00000000851 ENST00000379290.1:c.1343G>A chr1.hg19:g.1120431G>A ENSP00000368592:p.Ser448Asn NA B1AMF6|Q5T2W4|Q5T2W5|Q8N9X2 hg19 CCDS44036.1 0.02 17.591318 TCAxTGA COVERED 347 0.15888278388278387 199 0.40447154471544716 23 0.06353591160220995 89 0.1555944055944056 36 0.047493403693931395 A 8.390 0.839575 0.16891 0.32138 0.052558 ENSG00000162571 ENST00000379290;ENST00000379289;ENST00000379288 T;T;T 0.05580 3.42;3.42;3.42 4.54 4.54 0.55810 . 0.000000 0.64402 N 0.000001 T 0.00012 0.0000 N 0.00972 -1.085 0.41513 P 0.011647999999999992 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.42032 -0.9475 9 0.07644 T 0.81 . 8.3694 0.32406 0.9052:0.0:0.0948:0.0 rs1320571;rs1320571 375;448 Q6ZVT0-3;Q6ZVT0 .;TTL10_HUMAN N 448;448;375 ENSP00000368592:S448N;ENSP00000368591:S448N;ENSP00000368590:S375N ENSP00000368590:S375N S + 2 0 TTLL10 1110294 1.000000 0.71417 0.746000 0.31095 0.003000 0.03518 6.435000 0.73412 0.789000 0.33779 -0.360000 0.07572 AGT NOVEL TTLL10-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000002421.3 0 14.445102 KEEP 0 0 0 48 1689 GG 1 1 0 + 24 60 841 0 0 55.071308 422 60 16049 611 ENST00000379290.1 0.053812 1 TTLL10 254173 __UNKNOWN__ __UNKNOWN__ 1 1120536 1120536 __UNKNOWN__ Intron SNP G G A rs77950429 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:1120536G>A ENST00000379290.1 + 13 1574 TTLL10_ENST00000379288.3_3'UTR|TTLL10_ENST00000379289.1_Intron Q6ZVT0 TTL10_HUMAN tubulin tyrosine ligase-like family, member 10 NA NA cellular protein modification process (GO:0006464) haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1) 7 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CCCTCGGGGCGGGGGTGTGTG 0.657 NA G||| 259 0.0517173 0.0204 0.0231 5008 , , NA 17738 0.1538 NA 0.0179 False NA ,,, NA NA NA 2504 0.044 NA NA NA NA 0 G , 89,4317 72.5+/-110.5 0,89,2114 44 35 38 , -3.8 0 1 dbSNP_131 38 181,8419 79.2+/-141.9 0,181,4119 no intron,utr-3 TTLL10 NM_001130045.1,NM_153254.2 , 0,270,6233 AA,AG,GG 2.1047,2.02,2.076 , , 1120536 270,12736 2203 4300 6503 SO:0001627 intron_variant AK093438 CCDS8.1, CCDS44036.1 1p36.33 2014-01-28 2005-07-29 2005-07-29 ENSG00000162571 ENSG00000162571 254173 Tubulin tyrosine ligase-like family 26693 protein-coding gene gene with protein product tubulin tyrosine ligase-like family, member 5 TTLL5 NA 15890843 Standard NM_153254 NM_153254 NA Approved FLJ36119 uc001acy.2 Q6ZVT0 OTTHUMG00000000851 ENST00000379290.1:c.1401+47G>A chr1.hg19:g.1120536G>A NA B1AMF6|Q5T2W4|Q5T2W5|Q8N9X2 hg19 CCDS44036.1 0.02 8.889409 GGCxGGG COVERED NOVEL TTLL10-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000002421.3 0 7.22195 KEEP 0 0 0 24 798 GG 0.999909 0.999909 0 + 13 60 481 0 0 32.480324 222 60 7729 272 ENST00000379290.1 0.055319 1 TTLL10 254173 __UNKNOWN__ __UNKNOWN__ 1 1121014 1121014 __UNKNOWN__ Intron SNP G G A rs3813204 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:1121014G>A ENST00000379290.1 + 13 1574 TTLL10_ENST00000379288.3_3'UTR|TTLL10_ENST00000379289.1_Intron Q6ZVT0 TTL10_HUMAN tubulin tyrosine ligase-like family, member 10 NA NA cellular protein modification process (GO:0006464) haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1) 7 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) TGAGCAGCGCGGTGTGAAACT 0.577 NA G||| 1250 0.249601 0.0136 0.3646 5008 , , NA 19215 0.5952 NA 0.1272 False NA ,,, NA NA NA 2504 0.2566 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK093438 CCDS8.1, CCDS44036.1 1p36.33 2014-01-28 2005-07-29 2005-07-29 ENSG00000162571 ENSG00000162571 254173 Tubulin tyrosine ligase-like family 26693 protein-coding gene gene with protein product tubulin tyrosine ligase-like family, member 5 TTLL5 NA 15890843 Standard NM_153254 NM_153254 NA Approved FLJ36119 uc001acy.2 Q6ZVT0 OTTHUMG00000000851 ENST00000379290.1:c.1401+525G>A chr1.hg19:g.1121014G>A NA B1AMF6|Q5T2W4|Q5T2W5|Q8N9X2 hg19 CCDS44036.1 0.02 10.959472 CGCxGTG COVERED NOVEL TTLL10-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000002421.3 2 7.523194 KEEP 0 0 0 25 840 GG 0.999931 0.999931 0 + 10 60 349 0 0 21.294026 250 60 8686 350 ENST00000379290.1 0.038462 1 TTLL10 254173 __UNKNOWN__ __UNKNOWN__ 1 1132938 1132938 __UNKNOWN__ Missense_Mutation SNP G G A rs2274791 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:1132938G>A ENST00000379290.1 + 16 1906 c.1733G>A c.(1732-1734)gGc>gAc p.G578D TTLL10_ENST00000379289.1_Missense_Mutation_p.G578D Q6ZVT0 TTL10_HUMAN tubulin tyrosine ligase-like family, member 10 578 NA G -> D (in dbSNP:rs2274791). cellular protein modification process (GO:0006464) haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1) 7 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CACCTGGGGGGCTCGTGCAGC 0.751 NA g||| 1243 0.248203 0.0129 0.353 5008 , , NA 5693 0.6071 NA 0.1123 False NA ,,, NA NA NA 2504 0.2618 NA NA NA NA 0 1 1 1 NA NA 1 NA 1132938 200 704 904 SO:0001583 missense AK093438 CCDS8.1, CCDS44036.1 1p36.33 2014-01-28 2005-07-29 2005-07-29 ENSG00000162571 ENSG00000162571 254173 Tubulin tyrosine ligase-like family 26693 protein-coding gene gene with protein product tubulin tyrosine ligase-like family, member 5 TTLL5 NA 15890843 Standard NM_153254 NM_153254 NA Approved FLJ36119 uc001acy.2 Q6ZVT0 OTTHUMG00000000851 ENST00000379290.1:c.1733G>A chr1.hg19:g.1132938G>A ENSP00000368592:p.Gly578Asp NA B1AMF6|Q5T2W4|Q5T2W5|Q8N9X2 hg19 CCDS44036.1 0.02 1.788791 GGGxCTC COVERED 548 0.2509157509157509 29 0.05894308943089431 109 0.3011049723756906 320 0.5594405594405595 90 0.11873350923482849 g 7.609 0.674393 0.14841 . . ENSG00000162571 ENST00000379290;ENST00000379289 T;T 0.06142 3.34;3.34 2.63 2.63 0.31362 . 7739.210000 0.00166 N 0.000000 T 0.00012 0.0000 N 0.24115 0.695 0.80722 P 0.0 B 0.23058 0.079 B 0.23574 0.047 T 0.40942 -0.9536 9 0.15952 T 0.53 . 8.4583 0.32912 0.0:0.0:1.0:0.0 rs2274791 578 Q6ZVT0 TTL10_HUMAN D 578 ENSP00000368592:G578D;ENSP00000368591:G578D ENSP00000368591:G578D G + 2 0 TTLL10 1122801 0.002000 0.14202 0.034000 0.17996 0.015000 0.08874 0.838000 0.27572 1.307000 0.44944 0.450000 0.29827 GGC NOVEL TTLL10-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000002421.3 0 9.029385 KEEP 0 0 0 30 1076 GG 0.999997 0.99623 0 + 6 60 206 0 0 14.678346 62 60 2097 135 ENST00000379290.1 0.088235 0.996233 TNFRSF4 7293 __UNKNOWN__ __UNKNOWN__ 1 1147422 1147422 __UNKNOWN__ Silent SNP C C T rs17568 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:1147422C>T ENST00000379236.3 - 5 538 c.534G>A c.(532-534)gaG>gaA p.E178E TNFRSF4_ENST00000453580.1_5'UTR NM_003327.3 NP_003318.1 P43489 TNR4_HUMAN tumor necrosis factor receptor superfamily, member 4 178 NA cellular defense response (GO:0006968)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of immunoglobulin secretion (GO:0051024)|regulation of apoptotic process (GO:0042981)|regulation of protein kinase activity (GO:0045859)|T cell proliferation (GO:0042098) cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887) tumor necrosis factor-activated receptor activity (GO:0005031) large_intestine(1)|lung(2)|urinary_tract(1) 4 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) GGCCCTGGGTCTCCTGGGGCT 0.701 NA c||| 2496 0.498403 0.4297 0.5043 5008 , , NA 13575 0.7837 NA 0.2117 False NA ,,, NA NA NA 2504 0.5879 NA NA NA NA 0 C 1662,2718 306,1050,834 16 20 18 534 0.3 0.9 1 dbSNP_63 18 1756,6800 195,1366,2717 no coding-synonymous TNFRSF4 NM_003327.3 501,2416,3551 TT,TC,CC 20.5236,37.9452,26.4224 178/278 1147422 3418,9518 2190 4278 6468 SO:0001819 synonymous_variant X75962 CCDS11.1 1p36 2008-02-05 ENSG00000186827 ENSG00000186827 7293 Tumor necrosis factor receptor superfamily, CD molecules 11918 protein-coding gene gene with protein product 600315 TXGP1L NA 7510240, 2828930 Standard NM_003327 NA Approved ACT35, OX40, CD134 uc001ade.3 P43489 OTTHUMG00000001415 ENST00000379236.3:c.534G>A chr1.hg19:g.1147422C>T NA Q13663|Q2M312|Q5T7M0 hg19 CCDS11.1 0.02 10.325215 GGTxTCC COVERED 993 0.45467032967032966 231 0.4695121951219512 172 0.47513812154696133 433 0.756993006993007 157 0.20712401055408972 C 5.772 0.326856 0.10900 0.379452 0.205236 ENSG00000186827 ENST00000453580 . . . 3.47 0.346 0.16017 . . . . . T 0.00012 0.0000 . . . 0.20764 P 0.999857777 . . . . . . T 0.25152 -1.0140 3 . . . -12.4998 2.9742 0.05932 0.1675:0.5134:0.2059:0.1132 rs17568;rs62648068 . . . N 124 . . D - 1 0 TNFRSF4 1137285 0.461000 0.25783 0.890000 0.34922 0.026000 0.11368 0.431000 0.21444 0.250000 0.21479 0.491000 0.48974 GAC NOVEL TNFRSF4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000004086.1 1 15.283405 KEEP 0 1 32 62 2159 CC 1 1 0 - 14 60 483 0 0 31.247475 249 60 9139 424 ENST00000379236.3 0.053232 1 SDF4 51150 __UNKNOWN__ __UNKNOWN__ 1 1156131 1156131 __UNKNOWN__ Intron SNP T T C rs2887286 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:1156131T>C ENST00000360001.6 - 5 840 SDF4_ENST00000263741.7_Intron|SDF4_ENST00000545427.1_Intron Q9BRK5 CAB45_HUMAN stromal cell derived factor 4 NA NA calcium ion-dependent exocytosis (GO:0017156)|cerebellum development (GO:0021549)|fat cell differentiation (GO:0045444)|response to ethanol (GO:0045471)|UV protection (GO:0009650)|zymogen granule exocytosis (GO:0070625) cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|late endosome (GO:0005770)|membrane (GO:0016020)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|identical protein binding (GO:0042802) endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 11 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204) AAGACCCAAATAAAGTGGCAC 0.582 NA N||| 2560 0.511182 0.5287 0.4481 5008 , , NA 18777 0.8462 NA 0.1759 False NA ,,, NA NA NA 2504 0.5317 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS12.1, CCDS30553.1 1p36.33 2013-01-10 ENSG00000078808 ENSG00000078808 51150 EF-hand domain containing 24188 protein-coding gene gene with protein product calcium binding protein 614282 NA 9254016, 8609160 Standard NM_016176 NM_016176 NA Approved Cab45 uc001adh.4 Q9BRK5 OTTHUMG00000001812 ENST00000360001.6:c.578-1824A>G chr1.hg19:g.1156131T>C NA B1AME5|B1AME6|B2RDF1|B4DSM1|Q53G52|Q53HQ9|Q8NBQ3|Q96AA1|Q9NZP7|Q9UN53 hg19 CCDS30553.1 0.02 9.97011 AAAxAAA COVERED NOVEL SDF4-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000005064.1 0 13.540131 KEEP 0 0 0 45 1395 TT 1 1 0 - 9 60 350 0 0 23.30161 194 60 6837 307 ENST00000360001.6 0.044335 1 UBE2J2 118424 __UNKNOWN__ __UNKNOWN__ 1 1190523 1190523 __UNKNOWN__ 3'UTR SNP C C T rs1058161 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:1190523C>T ENST00000349431.6 - 0 1059 UBE2J2_ENST00000347370.2_3'UTR|UBE2J2_ENST00000400929.2_3'UTR|UBE2J2_ENST00000339385.6_3'UTR|UBE2J2_ENST00000348298.7_3'UTR NM_058167.2 NP_477515.2 Q8N2K1 UB2J2_HUMAN ubiquitin-conjugating enzyme E2, J2 NA NA protein ubiquitination (GO:0016567)|response to unfolded protein (GO:0006986) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524) cervix(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 13 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205) TCCAGCCTGCCGAGGTCACGC 0.597 NA C||| 293 0.0585064 0.0227 0.0115 5008 , , NA 16560 0.0972 NA 0.0298 False NA ,,, NA NA NA 2504 0.1299 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF296658 CCDS14.1, CCDS15.1, CCDS16.1 1p36.33 2011-05-19 2011-05-19 ENSG00000160087 ENSG00000160087 118424 Ubiquitin-conjugating enzymes E2 19268 protein-coding gene gene with protein product ubiquitin-conjugating enzyme E2, J2 (UBC6 homolog, yeast) NA 11278356 Standard NM_058167 NM_058167 NA Approved Ubc6p, NCUBE2 uc001ado.3 Q8N2K1 OTTHUMG00000001911 ENST00000349431.6:c.*60G>A chr1.hg19:g.1190523C>T NA A8MYC7|Q504T9|Q96N26|Q96T84 hg19 CCDS14.1 0.02 4.219814 TGCxGAG COVERED NOVEL UBE2J2-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000005430.1 1 9.930791 KEEP 0 0 0 33 1114 CC 0.999998 0.99999 0 - 5 60 187 0 0 12.275182 104 60 3655 163 ENST00000349431.6 0.045872 0.999992 SCNN1D 6339 __UNKNOWN__ __UNKNOWN__ 1 1226348 1226348 __UNKNOWN__ Intron SNP C C G rs586965|rs373520165 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:1226348C>G ENST00000379116.5 + 16 2202 SCNN1D_ENST00000338555.2_Intron|SCNN1D_ENST00000325425.8_Intron|SCNN1D_ENST00000400928.3_Intron NM_001130413.3 NP_001123885.2 P51172 SCNND_HUMAN sodium channel, non-voltage-gated 1, delta subunit NA NA ion transmembrane transport (GO:0034220)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085) actin cytoskeleton (GO:0015629)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) ligand-gated sodium channel activity (GO:0015280) lung(6)|skin(1) 7 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199) Amiloride(DB00594)|Triamterene(DB00384) GTGCACCCTCCCCCTCCAGAG 0.647 NA G||| 2525 0.504193 0.7542 0.3256 5008 , , NA 13397 0.7877 NA 0.1193 False NA ,,, NA NA NA 2504 0.3967 NA NA NA NA 0 G 2846,1502 924,998,252 30 28 29 -4 0 1 dbSNP_83 29 1055,7497 68,919,3289 no intron SCNN1D NM_001130413.3 992,1917,3541 GG,GC,CC 12.3363,34.5446,30.2403 1226348 3901,8999 2174 4276 6450 SO:0001627 intron_variant U38254 CCDS44037.1, CCDS44037.2 1p36.3-p36.2 2012-02-28 2012-02-28 ENSG00000162572 ENSG00000162572 6339 Ion channels / Sodium channel, nonvoltage-gated, Sodium channels 10601 protein-coding gene gene with protein product 601328 sodium channel, nonvoltage-gated 1, delta, sodium channel, non-voltage-gated 1, delta NA 8661065 Standard NM_002978 NM_001130413 NA Approved ENaCdelta, dNaCh uc001adt.1 P51172 OTTHUMG00000002081 ENST00000379116.5:c.1976+15C>G chr1.hg19:g.1226348C>G NA A9Z1X6|B1PS44|Q08AQ3|Q09HT0|Q5T7L3|Q8NA24 hg19 CCDS44037.2 0.02 2.11048 CTCxCCC COVERED NOVEL SCNN1D-008 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000407296.1 0 7.523475 KEEP 0 0 0 25 857 CC 0.999931 0.999893 0 + 6 60 229 0 0 15.909569 94 60 3435 158 ENST00000379116.5 0.06 0.999962 SCNN1D 6339 __UNKNOWN__ __UNKNOWN__ 1 1226889 1226889 __UNKNOWN__ Missense_Mutation SNP G G A rs609805 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:1226889G>A ENST00000379116.5 + 18 2534 c.2308G>A c.(2308-2310)Ggg>Agg p.G770R SCNN1D_ENST00000338555.2_Missense_Mutation_p.G606R|SCNN1D_ENST00000325425.8_Missense_Mutation_p.G672R|SCNN1D_ENST00000400928.3_Missense_Mutation_p.G606R NM_001130413.3 NP_001123885.2 P51172 SCNND_HUMAN sodium channel, non-voltage-gated 1, delta subunit 606 NA ion transmembrane transport (GO:0034220)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085) actin cytoskeleton (GO:0015629)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) ligand-gated sodium channel activity (GO:0015280) lung(6)|skin(1) 7 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199) Amiloride(DB00594)|Triamterene(DB00384) GGAGCCCAGCGGGCCTCATCT 0.687 NA G||| 550 0.109824 0.1467 0.0836 5008 , , NA 15573 0.1478 NA 0.0378 False NA ,,, NA NA NA 2504 0.1135 NA NA NA NA 0 G ARG/GLY 443,3895 16,411,1742 14 18 17 2308 -5.4 0 1 dbSNP_83 17 239,8279 6,227,4026 yes missense SCNN1D NM_001130413.3 125 22,638,5768 AA,AG,GG 2.8058,10.2121,5.3049 benign 770/803 1226889 682,12174 2169 4259 6428 SO:0001583 missense U38254 CCDS44037.1, CCDS44037.2 1p36.3-p36.2 2012-02-28 2012-02-28 ENSG00000162572 ENSG00000162572 6339 Ion channels / Sodium channel, nonvoltage-gated, Sodium channels 10601 protein-coding gene gene with protein product 601328 sodium channel, nonvoltage-gated 1, delta, sodium channel, non-voltage-gated 1, delta NA 8661065 Standard NM_002978 NM_001130413 NA Approved ENaCdelta, dNaCh uc001adt.1 P51172 OTTHUMG00000002081 ENST00000379116.5:c.2308G>A chr1.hg19:g.1226889G>A ENSP00000368411:p.Gly770Arg NA A9Z1X6|B1PS44|Q08AQ3|Q09HT0|Q5T7L3|Q8NA24 hg19 CCDS44037.2 0.02 4.260103 AGCxGGC COVERED 226 0.10347985347985347 83 0.16869918699186992 40 0.11049723756906077 76 0.13286713286713286 27 0.03562005277044855 G 7.126 0.578837 0.13686 0.102121 0.028058 ENSG00000162572 ENST00000379110;ENST00000379116;ENST00000338555;ENST00000325425;ENST00000400928 T;T;T;T 0.69806 -0.43;-0.34;-0.38;-0.34 2.72 -5.43 0.02632 . 3.111310 0.01956 N 0.042969 T 0.00144 0.0004 N 0.24115 0.695 0.80722 P 0.0 B;B;B 0.18461 0.002;0.007;0.028 B;B;B 0.08055 0.001;0.001;0.003 T 0.03555 -1.1025 9 0.17832 T 0.49 . 0.585 0.00718 0.2229:0.1426:0.236:0.3985 rs609805 428;606;770 B1AMF2;P51172;A6NNF7 .;SCNND_HUMAN;. R 637;770;606;672;606 ENSP00000368411:G770R;ENSP00000339504:G606R;ENSP00000321594:G672R;ENSP00000383717:G606R ENSP00000321594:G672R G + 1 0 SCNN1D 1216752 0.000000 0.05858 0.000000 0.03702 0.007000 0.05969 -2.943000 0.00682 -1.836000 0.01190 -0.350000 0.07774 GGG NOVEL SCNN1D-008 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000407296.1 3 17.454552 KEEP 0 0 0 58 1947 GG 1 1 0 + 7 60 262 0 0 17.260964 143 60 4977 269 ENST00000379116.5 0.046667 1 ACAP3 116983 __UNKNOWN__ __UNKNOWN__ 1 1227897 1227897 __UNKNOWN__ 3'UTR SNP A A G rs3737721 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:1227897A>G ENST00000354700.5 - 0 3754 ACAP3_ENST00000353662.3_3'UTR NM_030649.2 NP_085152.2 Q96P50 ACAP3_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 NA NA regulation of ARF GTPase activity (GO:0032312) ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270) endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 14 CTTCAGGGTCACAGGCAGCAG 0.667 NA A||| 1142 0.228035 0.1536 0.1225 5008 , , NA 15443 0.619 NA 0.008 False NA ,,, NA NA NA 2504 0.227 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF411981 CCDS19.2 1p36 2013-01-10 2008-09-22 2008-09-22 ENSG00000131584 ENSG00000131584 116983 ADP-ribosylation factor GTPase activating proteins, Pleckstrin homology (PH) domain containing, Ankyrin repeat domain containing 16754 protein-coding gene gene with protein product centaurin, beta 5 CENTB5 NA Standard NM_030649 NM_030649 NA Approved KIAA1716 uc001aeb.2 Q96P50 OTTHUMG00000002235 ENST00000354700.5:c.*1047T>C chr1.hg19:g.1227897A>G NA B1AMF5|Q5TA42|Q5TA43|Q86UT3|Q9BSR9|Q9C0E7 hg19 CCDS19.2 0.02 14.64693 GTCxCAG COVERED NOVEL ACAP3-001 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000006366.2 3 33.697801 KEEP 0 0 0 112 3408 AA 1 1 0 - 12 60 392 0 0 21.065949 428 60 15421 699 ENST00000354700.5 0.027273 1 ACAP3 116983 __UNKNOWN__ __UNKNOWN__ 1 1231507 1231507 __UNKNOWN__ Intron SNP G G A rs619608 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:1231507G>A ENST00000354700.5 - 17 1610 ACAP3_ENST00000353662.3_Intron NM_030649.2 NP_085152.2 Q96P50 ACAP3_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 NA NA regulation of ARF GTPase activity (GO:0032312) ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270) endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 14 GAGACAGGGCGAGCAGGCATC 0.627 NA G||| 599 0.119609 0.1604 0.0951 5008 , , NA 13684 0.1647 NA 0.0467 False NA ,,, NA NA NA 2504 0.1104 NA NA NA NA 0 G 519,3869 236.5+/-248.6 27,465,1702 47 47 47 -4.3 0 1 dbSNP_83 47 430,8158 132.8+/-190.4 14,402,3878 no intron ACAP3 NM_030649.2 41,867,5580 AA,AG,GG 5.007,11.8277,7.3135 1231507 949,12027 2194 4294 6488 SO:0001627 intron_variant AF411981 CCDS19.2 1p36 2013-01-10 2008-09-22 2008-09-22 ENSG00000131584 ENSG00000131584 116983 ADP-ribosylation factor GTPase activating proteins, Pleckstrin homology (PH) domain containing, Ankyrin repeat domain containing 16754 protein-coding gene gene with protein product centaurin, beta 5 CENTB5 NA Standard NM_030649 NM_030649 NA Approved KIAA1716 uc001aeb.2 Q96P50 OTTHUMG00000002235 ENST00000354700.5:c.1408-18C>T chr1.hg19:g.1231507G>A NA B1AMF5|Q5TA42|Q5TA43|Q86UT3|Q9BSR9|Q9C0E7 hg19 CCDS19.2 0.02 11.676395 GGCxAGC COVERED NOVEL ACAP3-001 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000006366.2 6 22.568336 KEEP 0 0 0 75 2504 GG 1 1 0 - 12 60 405 0 0 23.777014 324 60 11733 480 ENST00000354700.5 0.035714 1 ACAP3 116983 __UNKNOWN__ __UNKNOWN__ 1 1233941 1233941 __UNKNOWN__ Intron SNP T T C rs1739855 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:1233941T>C ENST00000354700.5 - 11 1066 ACAP3_ENST00000353662.3_Intron NM_030649.2 NP_085152.2 Q96P50 ACAP3_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 NA NA regulation of ARF GTPase activity (GO:0032312) ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270) endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 14 GAGGAAGGCCTCTCACCGGTT 0.657 NA c||| 2488 0.496805 0.8169 0.2608 5008 , , NA 5572 0.7659 NA 0.0825 False NA ,,, NA NA NA 2504 0.3804 NA NA NA NA 0 3133,1265 402.4+/-332.3 1123,887,189 48 53 51 0.9 0.5 1 dbSNP_89 51 636,7954 783.4+/-407.6 30,576,3689 no intron ACAP3 NM_030649.2 1153,1463,3878 CC,CT,TT 7.404,28.7631,29.0191 1233941 3769,9219 2199 4295 6494 SO:0001627 intron_variant AF411981 CCDS19.2 1p36 2013-01-10 2008-09-22 2008-09-22 ENSG00000131584 ENSG00000131584 116983 ADP-ribosylation factor GTPase activating proteins, Pleckstrin homology (PH) domain containing, Ankyrin repeat domain containing 16754 protein-coding gene gene with protein product centaurin, beta 5 CENTB5 NA Standard NM_030649 NM_030649 NA Approved KIAA1716 uc001aeb.2 Q96P50 OTTHUMG00000002235 ENST00000354700.5:c.863+5A>G chr1.hg19:g.1233941T>C NA B1AMF5|Q5TA42|Q5TA43|Q86UT3|Q9BSR9|Q9C0E7 hg19 CCDS19.2 0.02 4.302603 GCCxCTC COVERED NOVEL ACAP3-001 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000006366.2 0 9.114153 KEEP 0 1 7 33 996 TT 0.999998 0.999992 0 - 7 60 246 0 0 16.602862 104 60 3628 166 ENST00000354700.5 0.063063 0.999994 CCNL2 81669 __UNKNOWN__ __UNKNOWN__ 1 1323030 1323030 __UNKNOWN__ Intron SNP G G A rs146564472 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:1323030G>A ENST00000400809.3 - 11 1217 CCNL2_ENST00000505849.1_Intron|CCNL2_ENST00000408952.5_Intron NM_030937.4 NP_112199.2 Q96S94 CCNL2_HUMAN cyclin L2 NA NA regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2) 13 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146) ACACCCACAGGAGCTCAGACA 0.592 NA G||| 262 0.0523163 0.0219 0.0288 5008 , , NA 15837 0.0853 NA 0.0477 False NA ,,, NA NA NA 2504 0.0808 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF251294 CCDS30557.1, CCDS30558.1 1p36.33 2014-07-03 ENSG00000221978 ENSG00000221978 81669 20570 protein-coding gene gene with protein product cyclin S 613482 cyclin M CCNM NA 14725631 Standard NM_030937 NM_030937 NA Approved ania-6b, PCEE, SB138, HLA-ISO, CCNS uc001afi.2 Q96S94 OTTHUMG00000002917 ENST00000400809.3:c.1212-68C>T chr1.hg19:g.1323030G>A NA A8K8A3|B1B152|Q5T2N5|Q5T2N6|Q6IQ12|Q7Z4Z8|Q8N3C9|Q8N3D5|Q8NHE3|Q8TEL0|Q96B00 hg19 CCDS30557.1 0.02 1.781074 CAGxAGC COVERED NOVEL CCNL2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000008146.2 0 7.223477 KEEP 0 0 0 24 844 GG 0.999909 0.99979 0 - 5 60 182 0 0 12.153475 87 60 3161 136 ENST00000400809.3 0.054348 0.999881 VWA1 64856 __UNKNOWN__ __UNKNOWN__ 1 1376214 1376214 __UNKNOWN__ 3'UTR SNP C C G rs1240698 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:1376214C>G ENST00000476993.1 + 0 2463 VWA1_ENST00000404702.3_3'UTR NM_022834.4 NP_073745.2 Q6PCB0 VWA1_HUMAN von Willebrand factor A domain containing 1 NA NA behavioral response to pain (GO:0048266)|extracellular matrix organization (GO:0030198) basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interstitial matrix (GO:0005614) NS(1)|breast(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) AGCTTGTGAACGTCTCCGCCT 0.537 NA N||| 3440 0.686901 0.8888 0.5548 5008 , , NA 18273 0.9911 NA 0.2078 False NA ,,, NA NA NA 2504 0.6871 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC059409 CCDS27.1, CCDS28.1, CCDS28.2 1p36.33 2013-02-11 ENSG00000179403 ENSG00000179403 64856 Fibronectin type III domain containing 30910 protein-coding gene gene with protein product 611901 NA 14527666, 12062410 Standard NM_022834 NM_022834 NA Approved FLJ22215, VWA-1, WARP uc001afs.3 Q6PCB0 OTTHUMG00000002975 ENST00000476993.1:c.*1047C>G chr1.hg19:g.1376214C>G NA A8K692|B3KUA1|E9PB53|Q7L5D7|Q9H6J5 hg19 CCDS27.1 0.02 9.28866 GAAxGTC COVERED NOVEL VWA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000008291.1 4 21.368081 KEEP 0 0 0 71 2434 CC 1 1 0 + 9 60 342 0 0 21.915977 226 60 7966 374 ENST00000476993.1 0.038298 1 VWA1 64856 __UNKNOWN__ __UNKNOWN__ 1 1377535 1377535 __UNKNOWN__ 3'UTR SNP G G A rs78727284 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:1377535G>A ENST00000476993.1 + 0 3784 VWA1_ENST00000404702.3_3'UTR NM_022834.4 NP_073745.2 Q6PCB0 VWA1_HUMAN von Willebrand factor A domain containing 1 NA NA behavioral response to pain (GO:0048266)|extracellular matrix organization (GO:0030198) basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interstitial matrix (GO:0005614) NS(1)|breast(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) CGTCCAGGCCGCTGTGAACCG 0.602 NA N||| 338 0.067492 0.1059 0.0231 5008 , , NA 16283 0.0952 NA 0.0239 False NA ,,, NA NA NA 2504 0.0634 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC059409 CCDS27.1, CCDS28.1, CCDS28.2 1p36.33 2013-02-11 ENSG00000179403 ENSG00000179403 64856 Fibronectin type III domain containing 30910 protein-coding gene gene with protein product 611901 NA 14527666, 12062410 Standard NM_022834 NM_022834 NA Approved FLJ22215, VWA-1, WARP uc001afs.3 Q6PCB0 OTTHUMG00000002975 ENST00000476993.1:c.*2368G>A chr1.hg19:g.1377535G>A NA A8K692|B3KUA1|E9PB53|Q7L5D7|Q9H6J5 hg19 CCDS27.1 0.02 16.11498 GCCxCTG COVERED NOVEL VWA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000008291.1 1 35.812402 KEEP 0 0 0 119 4101 GG 1 1 0 + 16 60 537 0 0 31.747433 428 60 14961 707 ENST00000476993.1 0.036036 1 ATAD3C 219293 __UNKNOWN__ __UNKNOWN__ 1 1386016 1386016 __UNKNOWN__ 5'UTR SNP A A G rs34301361 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:1386016A>G ENST00000378785.2 + 0 948 NM_001039211.2 NP_001034300.2 Q5T2N8 ATD3C_HUMAN ATPase family, AAA domain containing 3C NA NA ATP binding (GO:0005524) autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4) 7 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) GCCCAGCGGCATCCGTGTATC 0.632 NA N||| 1365 0.272564 0.174 0.33 5008 , , NA 17419 0.3819 NA 0.1481 False NA ,,, NA NA NA 2504 0.3804 NA NA NA NA 0 20 17 18 NA NA 1 NA 1386016 692 1590 2282 SO:0001623 5_prime_UTR_variant AK091918 CCDS44039.1 1p36.33 2010-04-21 2007-02-08 ENSG00000215915 ENSG00000215915 219293 ATPases / AAA-type 32151 protein-coding gene gene with protein product NA Standard NM_001039211 NM_001039211 NA Approved FLJ34599 uc001aft.2 Q5T2N8 OTTHUMG00000000531 ENST00000378785.2:c.-48A>G chr1.hg19:g.1386016A>G NA Q8N1Z5 hg19 CCDS44039.1 0.02 7.972449 GGCxTCC COVERED NOVEL ATAD3C-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000001279.3 1 15.345069 KEEP 9 0 0 51 1571 AA 1 1 0 + 8 60 279 0 0 16.892503 207 60 7146 359 ENST00000378785.2 0.037209 1 ATAD3C 219293 __UNKNOWN__ __UNKNOWN__ 1 1390997 1390997 __UNKNOWN__ Intron SNP T T G rs1781148 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:1390997T>G ENST00000378785.2 + 5 1433 NM_001039211.2 NP_001034300.2 Q5T2N8 ATD3C_HUMAN ATPase family, AAA domain containing 3C NA NA ATP binding (GO:0005524) autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4) 7 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) GCGCCCAGGATCTTTTGGGTC 0.687 NA N||| 3407 0.680312 0.8933 0.5648 5008 , , NA 14456 0.9911 NA 0.1928 False NA ,,, NA NA NA 2504 0.6554 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK091918 CCDS44039.1 1p36.33 2010-04-21 2007-02-08 ENSG00000215915 ENSG00000215915 219293 ATPases / AAA-type 32151 protein-coding gene gene with protein product NA Standard NM_001039211 NM_001039211 NA Approved FLJ34599 uc001aft.2 Q5T2N8 OTTHUMG00000000531 ENST00000378785.2:c.438+98T>G chr1.hg19:g.1390997T>G NA Q8N1Z5 hg19 CCDS44039.1 0.02 2.006964 GGAxCTT COVERED NOVEL ATAD3C-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000001279.3 0 2.407212 KEEP 0 0 0 8 251 TT 0.99257 0.992376 0 + 6 60 215 0 0 14.824929 83 60 2954 107 ENST00000378785.2 0.067416 0.999804 ATAD3C 219293 __UNKNOWN__ __UNKNOWN__ 1 1391304 1391304 __UNKNOWN__ Intron SNP T T C rs1695873 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:1391304T>C ENST00000378785.2 + 6 1559 NM_001039211.2 NP_001034300.2 Q5T2N8 ATD3C_HUMAN ATPase family, AAA domain containing 3C NA NA ATP binding (GO:0005524) autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4) 7 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) AAGGTGAGAGTGCCTAGCTGA 0.617 NA N||| 2141 0.427516 0.5333 0.4323 5008 , , NA 16870 0.502 NA 0.1879 False NA ,,, NA NA NA 2504 0.4509 NA NA NA NA 0 C 655,729 163,329,200 62 66 65 0.4 0.1 1 dbSNP_89 65 612,2570 72,468,1051 no intron ATAD3C NM_001039211.2 235,797,1251 CC,CT,TT 19.2332,47.3266,27.7486 1391304 1267,3299 692 1591 2283 SO:0001627 intron_variant AK091918 CCDS44039.1 1p36.33 2010-04-21 2007-02-08 ENSG00000215915 ENSG00000215915 219293 ATPases / AAA-type 32151 protein-coding gene gene with protein product NA Standard NM_001039211 NM_001039211 NA Approved FLJ34599 uc001aft.2 Q5T2N8 OTTHUMG00000000531 ENST00000378785.2:c.564+8T>C chr1.hg19:g.1391304T>C NA Q8N1Z5 hg19 CCDS44039.1 0.02 4.089621 GAGxGCC COVERED NOVEL ATAD3C-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000001279.3 1 3.30936 KEEP 0 0 0 11 333 TT 0.993072 0.993072 0 + 7 60 211 0 0 13.143107 117 60 4202 145 ENST00000378785.2 0.056452 0.999999 ATAD3B 83858 __UNKNOWN__ __UNKNOWN__ 1 1431165 1431165 __UNKNOWN__ Missense_Mutation SNP C C T rs9792879 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:1431165C>T ENST00000308647.7 + 16 2031 c.1915C>T c.(1915-1917)Ccg>Tcg p.P639S NM_031921.4 NP_114127.3 Q5T9A4 ATD3B_HUMAN ATPase family, AAA domain containing 3B 639 NA mitochondrial inner membrane (GO:0005743) ATP binding (GO:0005524) p.P639S(1) endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1) 10 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) TGGCGGTCGGCCGTTCTGCCC 0.647 NA NA NA NA NA NA NA NA NA NA NA 1 Substitution - Missense(1) skin(1) 33 33 33 NA NA 1 NA 1431165 2202 4300 6502 SO:0001583 missense AL834179 CCDS30.1 1p36.33 2010-04-21 2007-02-08 ENSG00000160072 ENSG00000160072 83858 ATPases / AAA-type 24007 protein-coding gene gene with protein product 612317 NA 10574462 Standard NM_031921 XM_005244806 NA Approved TOB3, KIAA1273 uc001afv.3 Q5T9A4 OTTHUMG00000000577 ENST00000308647.7:c.1915C>T chr1.hg19:g.1431165C>T ENSP00000311766:p.Pro639Ser NA A8K3H1|Q6ZRB5|Q9BUK4|Q9ULE7 hg19 CCDS30.1 0.02 2.064929 CGGxCGT COVERED 476 0.21794871794871795 147 0.29878048780487804 60 0.16574585635359115 170 0.2972027972027972 99 0.13060686015831136 c 11.49 1.652810 0.29336 . . ENSG00000160072 ENST00000378737;ENST00000308647 D 0.93811 -3.29 1.39 0.415 0.16411 . . . . . T 0.00012 0.0000 N 0.08118 0 0.58432 P 8.000000000008E-6 B;B 0.22604 0.072;0.024 B;B 0.12156 0.007;0.002 T 0.11324 -1.0592 8 0.87932 D 0 . 3.748 0.08555 0.0:0.7411:0.0:0.2589 rs9792879 593;639 Q5T9A4-3;Q5T9A4 .;ATD3B_HUMAN S 473;639 ENSP00000311766:P639S ENSP00000311766:P639S P + 1 0 ATAD3B 1421028 0.034000 0.19679 0.001000 0.08648 0.022000 0.10575 0.000000 0.12993 0.145000 0.18977 0.194000 0.17425 CCG NOVEL ATAD3B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000001369.2 2 3.009666 KEEP 0 0 0 10 346 CC 0.992708 0.989891 0 + 7 60 225 0 0 15.924965 64 60 2288 90 ENST00000308647.7 0.098592 0.997163 SSU72 29101 __UNKNOWN__ __UNKNOWN__ 1 1477108 1477108 __UNKNOWN__ 3'UTR SNP G G A rs1046878 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:1477108G>A ENST00000291386.3 - 0 1234 NM_014188.2 NP_054907.1 Q9NP77 SSU72_HUMAN SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae) NA NA dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|mRNA polyadenylation (GO:0006378) cytoplasm (GO:0005737)|nucleus (GO:0005634) CTD phosphatase activity (GO:0008420) large_intestine(2)|lung(5) 7 all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.03e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205) CGCCGCAGCAGGGCTCTGTAC 0.572 NA G||| 654 0.130591 0.0809 0.1268 5008 , , NA 19194 0.2778 NA 0.005 False NA ,,, NA NA NA 2504 0.1779 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ276409 CCDS32.1 1p36 2010-03-24 2006-04-04 ENSG00000160075 ENSG00000160075 29101 25016 protein-coding gene gene with protein product Ssu72 RNA polymerase II CTD phosphatase homolog (yeast) NA 15125841, 15659578 Standard NM_014188 NM_014188 NA Approved HSPC182 uc001agd.3 Q9NP77 OTTHUMG00000000576 ENST00000291386.3:c.*338C>T chr1.hg19:g.1477108G>A NA Q9BZS6|Q9H933 hg19 CCDS32.1 0.02 4.264919 GCAxGGC COVERED NOVEL SSU72-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000001366.1 1 15.037495 KEEP 0 0 0 50 1821 GG 1 0.999981 0 - 5 60 183 0 0 11.983237 99 60 3701 197 ENST00000291386.3 0.048077 0.999981 SSU72 29101 __UNKNOWN__ __UNKNOWN__ 1 1498377 1498377 __UNKNOWN__ Intron SNP C C T rs11260611 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:1498377C>T ENST00000291386.3 - 2 536 SSU72_ENST00000359060.4_3'UTR NM_014188.2 NP_054907.1 Q9NP77 SSU72_HUMAN SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae) NA NA dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|mRNA polyadenylation (GO:0006378) cytoplasm (GO:0005737)|nucleus (GO:0005634) CTD phosphatase activity (GO:0008420) large_intestine(2)|lung(5) 7 all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.03e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205) CACTCTCCACCGTGGGACGCC 0.632 NA C||| 648 0.129393 0.0825 0.1282 5008 , , NA 16895 0.2798 NA 0.005 False NA ,,, NA NA NA 2504 0.1667 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ276409 CCDS32.1 1p36 2010-03-24 2006-04-04 ENSG00000160075 ENSG00000160075 29101 25016 protein-coding gene gene with protein product Ssu72 RNA polymerase II CTD phosphatase homolog (yeast) NA 15125841, 15659578 Standard NM_014188 NM_014188 NA Approved HSPC182 uc001agd.3 Q9NP77 OTTHUMG00000000576 ENST00000291386.3:c.224+1775G>A chr1.hg19:g.1498377C>T NA Q9BZS6|Q9H933 hg19 CCDS32.1 0.02 12.903835 CACxGTG COVERED NOVEL SSU72-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000001366.1 1 39.726444 KEEP 0 0 0 132 4502 CC 1 1 0 - 13 60 485 0 0 31.061676 309 60 10678 560 ENST00000291386.3 0.040373 1 SLC35E2 9906 __UNKNOWN__ __UNKNOWN__ 1 1660043 1660043 __UNKNOWN__ Intron SNP T T A rs1546881 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:1660043T>A ENST00000355439.2 - 7 1493 SLC35E2_ENST00000400924.1_Intron|RP1-283E3.4_ENST00000417099.1_RNA|RP1-283E3.8_ENST00000598846.1_RNA NM_001199787.1 NP_001186716.1 P0CK97 S35E2_HUMAN solute carrier family 35, member E2 NA NA integral component of membrane (GO:0016021) endometrium(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) TTTTTATGCCTTTCAGTAGGG 0.403 NA -||| 1413 0.282149 0.0499 0.4885 5008 , , NA 20251 0.3284 NA 0.3738 False NA ,,, NA NA NA 2504 0.3078 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB007916 CCDS33.1, CCDS55560.1 1p36.33 2013-05-22 ENSG00000215790 ENSG00000215790 9906 Solute carriers 20863 protein-coding gene gene with protein product NA Standard XM_049733 NM_182838 NA Approved KIAA0447 uc001aia.2 P0CK97 OTTHUMG00000000823 ENST00000355439.2:c.733-3182A>T chr1.hg19:g.1660043T>A NA B3KWR0|O75035|Q2TAY8|Q569F8|Q5CZA4|Q5QPR8|Q9Y3J8 hg19 CCDS55560.1 0.02 24.897444 GCCxTTC COVERED NOVEL SLC35E2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000100204.2 1 52.964059 KEEP 52 0 0 176 5725 TT 1 1 0 - 23 60 860 0 0 55.434699 531 60 19499 927 ENST00000355439.2 0.041516 1 SLC35E2 9906 __UNKNOWN__ __UNKNOWN__ 1 1660110 1660110 __UNKNOWN__ Intron SNP C C A rs1801781 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:1660110C>A ENST00000355439.2 - 7 1493 SLC35E2_ENST00000400924.1_Intron|RP1-283E3.4_ENST00000417099.1_RNA|RP1-283E3.8_ENST00000598846.1_RNA NM_001199787.1 NP_001186716.1 P0CK97 S35E2_HUMAN solute carrier family 35, member E2 NA NA integral component of membrane (GO:0016021) endometrium(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) GTAAAGAAGCCGATGACCCAA 0.438 NA -||| 3044 0.607827 0.3026 0.7695 5008 , , NA 20782 0.7302 NA 0.7465 False NA ,,, NA NA NA 2504 0.637 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB007916 CCDS33.1, CCDS55560.1 1p36.33 2013-05-22 ENSG00000215790 ENSG00000215790 9906 Solute carriers 20863 protein-coding gene gene with protein product NA Standard XM_049733 NM_182838 NA Approved KIAA0447 uc001aia.2 P0CK97 OTTHUMG00000000823 ENST00000355439.2:c.733-3249G>T chr1.hg19:g.1660110C>A NA B3KWR0|O75035|Q2TAY8|Q569F8|Q5CZA4|Q5QPR8|Q9Y3J8 hg19 CCDS55560.1 0.02 18.799756 AGCxGAT COVERED NOVEL SLC35E2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000100204.2 4 23.574996 KEEP 0 3 93 111 3659 CC 1 1 0 - 23 60 874 0 0 59.637992 398 60 13756 654 ENST00000355439.2 0.054632 1 SLC35E2 9906 __UNKNOWN__ __UNKNOWN__ 1 1661704 1661704 __UNKNOWN__ Intron SNP A A G rs710322 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:1661704A>G ENST00000355439.2 - 6 1493 SLC35E2_ENST00000400924.1_Intron|RP1-283E3.4_ENST00000417099.1_RNA|RP1-283E3.8_ENST00000598846.1_RNA NM_001199787.1 NP_001186716.1 P0CK97 S35E2_HUMAN solute carrier family 35, member E2 NA NA integral component of membrane (GO:0016021) endometrium(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CAAATGGAAAACCAGTGAAGT 0.488 NA -||| 1396 0.278754 0.059 0.4827 5008 , , NA 18111 0.3284 NA 0.3549 False NA ,,, NA NA NA 2504 0.3016 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB007916 CCDS33.1, CCDS55560.1 1p36.33 2013-05-22 ENSG00000215790 ENSG00000215790 9906 Solute carriers 20863 protein-coding gene gene with protein product NA Standard XM_049733 NM_182838 NA Approved KIAA0447 uc001aia.2 P0CK97 OTTHUMG00000000823 ENST00000355439.2:c.732+4424T>C chr1.hg19:g.1661704A>G NA B3KWR0|O75035|Q2TAY8|Q569F8|Q5CZA4|Q5QPR8|Q9Y3J8 hg19 CCDS55560.1 0.02 14.738264 AAAxCCA COVERED NOVEL SLC35E2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000100204.2 6 32.492263 KEEP 3 0 0 108 3346 AA 1 1 0 - 14 49 548 0 0 36.380317 313 60 11012 521 ENST00000355439.2 0.042813 1 SLC35E2 9906 __UNKNOWN__ __UNKNOWN__ 1 1663851 1663851 __UNKNOWN__ Intron SNP G G C rs2294486 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:1663851G>C ENST00000355439.2 - 6 1493 SLC35E2_ENST00000400924.1_Intron|SLC35E2_ENST00000475229.1_5'UTR|SLC35E2_ENST00000246421.4_3'UTR|RP1-283E3.8_ENST00000598846.1_RNA NM_001199787.1 NP_001186716.1 P0CK97 S35E2_HUMAN solute carrier family 35, member E2 NA NA integral component of membrane (GO:0016021) endometrium(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CAGAAAAAGTGAGAGAGAGCG 0.547 NA -||| 1508 0.301118 0.0492 0.5115 5008 , , NA 15690 0.3403 NA 0.4235 False NA ,,, NA NA NA 2504 0.3262 NA NA NA NA 0 , 432,3946 37,358,1794 35 33 33 , -2.5 0 1 dbSNP_100 33 3511,5037 804,1903,1567 no intron,utr-3 SLC35E2 NM_001199787.1,NM_182838.2 , 841,2261,3361 CC,CG,GG 41.0739,9.8675,30.5044 , , 1663851 3943,8983 2189 4274 6463 SO:0001627 intron_variant AB007916 CCDS33.1, CCDS55560.1 1p36.33 2013-05-22 ENSG00000215790 ENSG00000215790 9906 Solute carriers 20863 protein-coding gene gene with protein product NA Standard XM_049733 NM_182838 NA Approved KIAA0447 uc001aia.2 P0CK97 OTTHUMG00000000823 ENST00000355439.2:c.732+2277C>G chr1.hg19:g.1663851G>C NA B3KWR0|O75035|Q2TAY8|Q569F8|Q5CZA4|Q5QPR8|Q9Y3J8 hg19 CCDS55560.1 0.02 29.016633 AGTxAGA COVERED NOVEL SLC35E2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000100204.2 4 39.426665 KEEP 0 0 0 131 4575 GG 1 1 0 - 23 60 900 0 0 58.478656 585 60 22132 912 ENST00000355439.2 0.037829 1 SLC35E2 9906 __UNKNOWN__ __UNKNOWN__ 1 1663861 1663861 __UNKNOWN__ Intron SNP G G A rs2294487 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:1663861G>A ENST00000355439.2 - 6 1493 SLC35E2_ENST00000400924.1_Intron|SLC35E2_ENST00000475229.1_5'UTR|SLC35E2_ENST00000246421.4_3'UTR|RP1-283E3.8_ENST00000598846.1_RNA NM_001199787.1 NP_001186716.1 P0CK97 S35E2_HUMAN solute carrier family 35, member E2 NA NA integral component of membrane (GO:0016021) endometrium(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) GAGAGAGAGCGGCCACTTTTC 0.557 NA -||| 1508 0.301118 0.0492 0.513 5008 , , NA 16021 0.3403 NA 0.4235 False NA ,,, NA NA NA 2504 0.3252 NA NA NA NA 0 , 439,3945 37,365,1790 41 37 39 , -2.2 0 1 dbSNP_100 39 3522,5038 808,1906,1566 no intron,utr-3 SLC35E2 NM_001199787.1,NM_182838.2 , 845,2271,3356 AA,AG,GG 41.1449,10.0137,30.6011 , , 1663861 3961,8983 2192 4280 6472 SO:0001627 intron_variant AB007916 CCDS33.1, CCDS55560.1 1p36.33 2013-05-22 ENSG00000215790 ENSG00000215790 9906 Solute carriers 20863 protein-coding gene gene with protein product NA Standard XM_049733 NM_182838 NA Approved KIAA0447 uc001aia.2 P0CK97 OTTHUMG00000000823 ENST00000355439.2:c.732+2267C>T chr1.hg19:g.1663861G>A NA B3KWR0|O75035|Q2TAY8|Q569F8|Q5CZA4|Q5QPR8|Q9Y3J8 hg19 CCDS55560.1 0.02 26.351962 AGCxGCC COVERED NOVEL SLC35E2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000100204.2 3 36.656766 KEEP 0 0 0 122 4149 GG 1 1 0 - 26 60 1001 0 0 66.832945 534 60 18898 848 ENST00000355439.2 0.046429 1 NADK 65220 __UNKNOWN__ __UNKNOWN__ 1 1688192 1688192 __UNKNOWN__ Intron SNP A A G rs2281173 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:1688192A>G ENST00000344463.4 - 7 1001 NADK_ENST00000342348.5_Intron|NADK_ENST00000341991.3_Intron|NADK_ENST00000492768.1_5'UTR|NADK_ENST00000341426.5_Intron|NADK_ENST00000378625.1_Intron O95544 NADK_HUMAN NAD kinase NA NA ATP metabolic process (GO:0046034)|NAD metabolic process (GO:0019674)|NADP biosynthetic process (GO:0006741)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767) cytosol (GO:0005829) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951) NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1) 17 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207) aaacttcatcaccaacgcgcc 0.612 NA G||| 3138 0.626597 0.2776 0.8314 5008 , , NA 15837 0.6329 NA 0.9036 False NA ,,, NA NA NA 2504 0.6616 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC001709 CCDS30565.1, CCDS55561.1, CCDS55562.1 1p36.33 2013-04-29 ENSG00000008130 ENSG00000008130 65220 2.7.1.23 29831 protein-coding gene gene with protein product 611616 NA 11594753 Standard NM_023018 NM_023018 NA Approved FLJ13052 uc001aie.3 O95544 OTTHUMG00000000942 ENST00000344463.4:c.780-96T>C chr1.hg19:g.1688192A>G NA A6NNN3|A8K296|B7Z434|F5GXR5|Q5QPS4|Q9H2P2|Q9H931 hg19 CCDS55562.1 0.02 1.772737 ATCxCCA COVERED NOVEL NADK-202 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000002767.1 1 5.35019 KEEP 0 1 38 31 938 AA 0.999997 0.999892 0 - 7 60 219 0 0 14.48119 86 60 2980 141 ENST00000344463.4 0.075269 0.999895 CALML6 163688 __UNKNOWN__ __UNKNOWN__ 1 1846765 1846765 __UNKNOWN__ Intron SNP G G A rs2247560 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:1846765G>A ENST00000307786.3 + 1 481 NM_138705.2 NP_619650.2 Q8TD86 CALL6_HUMAN calmodulin-like 6 NA NA cytoplasm (GO:0005737)|nucleus (GO:0005634) calcium ion binding (GO:0005509) NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2) 7 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;1.94e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.83e-23)|GBM - Glioblastoma multiforme(42;3.23e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199) TGACAGCATGGGACCAGGGTC 0.592 NA G||| 1786 0.356629 0.0582 0.5072 5008 , , NA 17570 0.4782 NA 0.4901 False NA ,,, NA NA NA 2504 0.3906 NA NA NA NA 0 G 552,3796 51,450,1673 40 36 37 -3.5 0 1 dbSNP_100 37 4138,4340 1099,1940,1200 no intron CALML6 NM_138705.2 1150,2390,2873 AA,AG,GG 48.8087,12.6955,36.5663 1846765 4690,8136 2174 4239 6413 SO:0001627 intron_variant AF490905 CCDS30566.1 1p36.33 2013-01-10 ENSG00000169885 ENSG00000169885 163688 EF-hand domain containing 24193 protein-coding gene gene with protein product 610171 NA Standard NM_138705 NM_138705 NA Approved CAGLP uc001aih.1 Q8TD86 OTTHUMG00000000943 ENST00000307786.3:c.27+19G>A chr1.hg19:g.1846765G>A NA A2A2M3|Q6Q2C4 hg19 CCDS30566.1 0.02 9.412035 ATGxGAC COVERED NOVEL CALML6-004 KNOWN mRNA_start_NF|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000276929.1 0 18.655329 KEEP 0 0 0 62 2169 GG 1 1 0 + 8 60 311 0 0 19.981425 213 60 7795 352 ENST00000307786.3 0.036199 1 TMEM52 339456 __UNKNOWN__ __UNKNOWN__ 1 1849529 1849529 __UNKNOWN__ Missense_Mutation SNP A A G rs28640257 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:1849529A>G ENST00000310991.3 - 5 429 c.422T>C c.(421-423)aTg>aCg p.M141T TMEM52_ENST00000378602.3_Missense_Mutation_p.M126T NM_178545.3 NP_848640.1 Q8NDY8 TMM52_HUMAN transmembrane protein 52 141 NA M -> T (in dbSNP:rs28640257). {ECO:0000269|PubMed:12975309}.|M -> V (in dbSNP:rs4459050). integral component of membrane (GO:0016021) p.M141T(1) NS(1)|prostate(1)|stomach(1) 3 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) AGGAGGAGCCATGGAGTCCAG 0.627 NA A||| 1763 0.352037 0.053 0.5072 5008 , , NA 19495 0.4623 NA 0.4901 False NA ,,, NA NA NA 2504 0.3906 NA NA NA NA 1 Substitution - Missense(1) stomach(1) A THR/MET 532,3874 39,454,1710 90 88 89 422 0.2 0 1 dbSNP_125 89 4288,4312 1092,2104,1104 no missense TMEM52 NM_178545.3 81 1131,2558,2814 GG,GA,AA 49.8605,12.0744,37.0598 benign 141/210 1849529 4820,8186 2203 4300 6503 SO:0001583 missense AJ278736 CCDS35.1 1p36.33 2008-02-05 ENSG00000178821 ENSG00000178821 339456 27916 protein-coding gene gene with protein product NA Standard NM_178545 NM_178545 NA Approved uc001aij.2 Q8NDY8 OTTHUMG00000000944 ENST00000310991.3:c.422T>C chr1.hg19:g.1849529A>G ENSP00000311122:p.Met141Thr NA Q4VXS6|Q6UX25 hg19 CCDS35.1 0.02 4.312615 GCCxTGG COVERED 846 0.3873626373626374 32 0.06504065040650407 183 0.505524861878453 258 0.45104895104895104 373 0.4920844327176781 . 3.602 -0.081358 0.07141 0.120744 0.498605 ENSG00000178821 ENST00000378602;ENST00000310991 T;T 0.31510 1.49;1.49 3.84 0.201 0.15186 . 0.206931 0.29515 N 0.011934 T 0.00012 0.0000 N 0.19112 0.55 0.80722 P 0.0 B;B 0.14438 0.002;0.01 B;B 0.12837 0.002;0.008 T 0.47209 -0.9135 9 0.16420 T 0.52 -5.174 3.3609 0.07186 0.6178:0.0:0.2079:0.1743 rs28640257 141;126 Q8NDY8;Q8NDY8-2 TMM52_HUMAN;. T 126;141 ENSP00000367865:M126T;ENSP00000311122:M141T ENSP00000311122:M141T M - 2 0 TMEM52 1839389 0.000000 0.05858 0.018000 0.16275 0.849000 0.48306 0.105000 0.15333 0.143000 0.18926 0.459000 0.35465 ATG NOVEL TMEM52-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000002781.1 3 15.039787 KEEP 0 0 0 50 1481 AA 1 1 0 - 7 60 220 0 0 13.422408 137 60 4727 230 ENST00000310991.3 0.048611 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 1859296 1859296 __UNKNOWN__ IGR SNP T T C rs2748984 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:1859296T>C NA NA TMEM52 (8584 upstream) : C1orf222 (60266 downstream) NA NA NA GCAGTTGGGATTGAATGTGGG 0.667 NA T||| 1781 0.355631 0.056 0.5058 5008 , , NA 13809 0.4772 NA 0.4911 False NA ,,, NA NA NA 2504 0.3896 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.1859296T>C NA hg19 0.02 2.219314 GGAxTGA COVERED NOVEL 0 2 3.308824 KEEP 0 0 0 11 328 TT 0.993072 0.993029 0 8 60 312 1 0 22.987573 90 60 3141 113 0.081633 0.999956 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 1861582 1861582 __UNKNOWN__ IGR SNP C C T rs2803295 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:1861582C>T NA NA TMEM52 (10870 upstream) : C1orf222 (57980 downstream) NA NA NA GACGTGGGCCCCATGGGAGAG 0.632 NA C||| 1782 0.355831 0.0575 0.5029 5008 , , NA 18173 0.4752 NA 0.4911 False NA ,,, NA NA NA 2504 0.3926 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.1861582C>T NA hg19 0.02 11.231543 GCCxCAT COVERED 857 0.3923992673992674 31 0.06300813008130081 183 0.505524861878453 268 0.46853146853146854 375 0.4947229551451187 C 15.15 2.749046 0.49257 . . ENSG00000142609 ENST00000493964 T 0.28069 1.63 3.29 3.29 0.37713 . . . . . T 0.00012 0.0000 . . . 0.09310 P 1.0 . . . . . . T 0.46119 -0.9214 5 0.16896 T 0.51 . 14.4375 0.67293 0.0:1.0:0.0:0.0 rs2803295 . . . R 352 ENSP00000417061:G352R ENSP00000417061:G352R G - 1 0 C1orf222 1851442 1.000000 0.71417 0.992000 0.48379 0.189000 0.23516 4.165000 0.58196 1.794000 0.52575 0.591000 0.81541 GGG NOVEL 0 5 12.933913 KEEP 0 0 0 43 1458 CC 1 1 0 13 60 487 0 0 32.427785 250 60 9215 373 0.04943 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 1875858 1875858 __UNKNOWN__ IGR SNP C C G rs35066915|rs2803336 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:1875858C>G NA NA TMEM52 (25146 upstream) : C1orf222 (43704 downstream) NA NA NA CAGACCGGCACATCGATGGCC 0.607 NA OREG0013000 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) C||| 1928 0.384984 0.1445 0.5144 5008 , , NA 16263 0.4792 NA 0.495 False NA ,,, NA NA NA 2504 0.408 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.1875858C>G 599 hg19 0.02 6.871967 GCAxATC COVERED 868 0.3974358974358974 74 0.15040650406504066 179 0.494475138121547 245 0.42832167832167833 370 0.48812664907651715 C 8.089 0.774127 0.16051 . . ENSG00000142609 ENST00000493964 T 0.27557 1.66 4.49 4.49 0.54785 . . . . . T 0.00012 0.0000 . . . 0.09310 P 1.0 . . . . . . T 0.35992 -0.9766 5 0.10111 T 0.7 . 15.0475 0.71838 0.0:1.0:0.0:0.0 rs2803336;rs2803336 . . . L 83 ENSP00000417061:V83L ENSP00000417061:V83L V - 1 0 C1orf222 1865718 0.992000 0.36948 0.776000 0.31678 0.004000 0.04260 3.117000 0.50407 2.230000 0.72887 0.609000 0.83330 GTG NOVEL 0 2 9.63126 KEEP 0 0 0 32 1143 CC 0.999997 0.999997 0 6 60 232 0 0 14.794084 164 60 6141 236 0.035294 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 1875859 1875859 __UNKNOWN__ IGR SNP A A G rs2803337|rs35066915 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:1875859A>G NA NA TMEM52 (25147 upstream) : C1orf222 (43703 downstream) NA NA NA AGACCGGCACATCGATGGCCA 0.602 NA OREG0013000 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) G||| 1992 0.397764 0.1899 0.5187 5008 , , NA 16207 0.4792 NA 0.496 False NA ,,, NA NA NA 2504 0.408 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.1875859A>G 599 hg19 0.02 6.463523 CACxTCG COVERED NOVEL 0 2 9.629402 KEEP 0 0 0 32 1012 AA 0.999997 0.999997 0 6 60 221 0 0 13.679475 165 60 6057 238 0.035088 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 1900186 1900186 __UNKNOWN__ IGR SNP T T C rs35269416 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:1900186T>C NA NA TMEM52 (49474 upstream) : C1orf222 (19376 downstream) NA NA NA GGGATGCTGTTTCTTCCTCTT 0.547 NA t||| 771 0.153954 0.0847 0.219 5008 , , NA 19340 0.1101 NA 0.1938 False NA ,,, NA NA NA 2504 0.2055 NA NA NA NA 0 T ARG/LYS 326,3778 8,310,1734 179 189 186 1133 -3.6 0 1 dbSNP_126 186 1712,6668 171,1370,2649 yes missense KIAA1751 NM_001080484.1 26 179,1680,4383 CC,CT,TT 20.4296,7.9435,16.3249 benign 378/763 1900186 2038,10446 2052 4190 6242 SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.1900186T>C NA hg19 0.02 4.338207 TGTxTCT COVERED 318 0.14560439560439561 43 0.08739837398373984 70 0.19337016574585636 65 0.11363636363636363 140 0.18469656992084432 t 5.253 0.232159 0.09969 0.079435 0.204296 ENSG00000142609 ENST00000270720 . . . 3.67 -3.57 0.04612 . 1.650180 0.03416 N 0.205639 T 0.00039 0.0001 N 0.17474 0.49 0.58432 P 1.0000000000287557E-6 B;B 0.23990 0.095;0.012 B;B 0.18871 0.023;0.007 T 0.12477 -1.0546 8 0.16896 T 0.51 -2.4306 6.9556 0.24570 0.0:0.5071:0.1548:0.3381 rs35269416;rs61745134 378;378 Q9C0B2-2;Q9C0B2 .;K1751_HUMAN R 378 . ENSP00000270720:K378R K - 2 0 C1orf222 1890046 0.000000 0.05858 0.000000 0.03702 0.010000 0.07245 -0.230000 0.09083 -0.890000 0.03945 0.454000 0.30748 AAA NOVEL 0 3 8.424712 KEEP 0 0 0 28 866 TT 0.999997 0.999997 0 8 60 274 0 0 17.89112 133 60 4824 209 0.056738 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 1903357 1903357 __UNKNOWN__ IGR SNP G G C rs13303329 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:1903357G>C NA NA TMEM52 (52645 upstream) : C1orf222 (16205 downstream) NA NA NA AGGAGCAGGGGCCCAGGGACG 0.721 NA g||| 946 0.188898 0.2103 0.1859 5008 , , NA 15136 0.0913 NA 0.2445 False NA ,,, NA NA NA 2504 0.2055 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.1903357G>C NA hg19 0.02 4.039412 GGGxCCC COVERED NOVEL 0 0 3.908276 KEEP 0 0 0 13 415 GG 0.994391 0.99438 0 6 60 184 0 0 11.640319 100 60 3515 127 0.056604 0.999989 PRKCZ 5590 __UNKNOWN__ __UNKNOWN__ 1 2075560 2075560 __UNKNOWN__ Intron SNP T T G rs427811 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:2075560T>G ENST00000400921.2 + 3 554 PRKCZ_ENST00000400920.1_Intron|RP5-892K4.1_ENST00000606533.1_RNA NM_001033581.1 NP_001028753.1 Q05513 KPCZ_HUMAN protein kinase C, zeta NA NA actin cytoskeleton reorganization (GO:0031532)|activation of phospholipase D activity (GO:0031584)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|inflammatory response (GO:0006954)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|membrane hyperpolarization (GO:0060081)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hydrolase activity (GO:0051346)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein complex assembly (GO:0031333)|neuron projection extension (GO:1990138)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|protein heterooligomerization (GO:0051291)|protein kinase C signaling (GO:0070528)|protein localization to plasma membrane (GO:0072659)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle transport along microtubule (GO:0047496) apical cortex (GO:0045179)|apical plasma membrane (GO:0016324)|axon hillock (GO:0043203)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|myelin sheath abaxonal region (GO:0035748)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923) ATP binding (GO:0005524)|insulin receptor substrate binding (GO:0043560)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270) breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1) 18 all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213) Tamoxifen(DB00675) TGTCCTCTTTTGAGAAGGTAT 0.637 NA t||| 1130 0.225639 0.062 0.3646 5008 , , NA 15399 0.2103 NA 0.2922 False NA ,,, NA NA NA 2504 0.2955 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC014270 CCDS37.1, CCDS41229.1, CCDS55563.1 1p36.33-p36.2 2009-07-10 ENSG00000067606 ENSG00000067606 5590 2.7.11.1 9412 protein-coding gene gene with protein product 176982 NA Standard NM_002744 NM_001242874 NA Approved PKC2 uc001aiq.3 Q05513 OTTHUMG00000001238 ENST00000400921.2:c.-129-89T>G chr1.hg19:g.2075560T>G NA A8K4N0|A8MU64|B7Z2J7|E9PCW2|Q15207|Q5SYT5|Q969S4 hg19 CCDS41229.1 0.02 2.01568 TTTxGAG COVERED NOVEL PRKCZ-009 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000098533.3 0 3.008 KEEP 0 0 0 10 285 TT 0.992708 0.992477 0 + 6 60 204 0 0 13.808903 82 60 2934 101 ENST00000400921.2 0.068182 0.999768 PRKCZ 5590 __UNKNOWN__ __UNKNOWN__ 1 2077409 2077409 __UNKNOWN__ Intron SNP A A G rs385039 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:2077409A>G ENST00000400921.2 + 4 686 PRKCZ_ENST00000400920.1_Intron|PRKCZ_ENST00000479263.1_Intron NM_001033581.1 NP_001028753.1 Q05513 KPCZ_HUMAN protein kinase C, zeta NA NA actin cytoskeleton reorganization (GO:0031532)|activation of phospholipase D activity (GO:0031584)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|inflammatory response (GO:0006954)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|membrane hyperpolarization (GO:0060081)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hydrolase activity (GO:0051346)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein complex assembly (GO:0031333)|neuron projection extension (GO:1990138)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|protein heterooligomerization (GO:0051291)|protein kinase C signaling (GO:0070528)|protein localization to plasma membrane (GO:0072659)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle transport along microtubule (GO:0047496) apical cortex (GO:0045179)|apical plasma membrane (GO:0016324)|axon hillock (GO:0043203)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|myelin sheath abaxonal region (GO:0035748)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923) ATP binding (GO:0005524)|insulin receptor substrate binding (GO:0043560)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270) breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1) 18 all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213) Tamoxifen(DB00675) CAGAAGCTACATTGTAACACC 0.468 NA A||| 1129 0.225439 0.062 0.3646 5008 , , NA 21245 0.2093 NA 0.2922 False NA ,,, NA NA NA 2504 0.2955 NA NA NA NA 0 A ,,, 153,1231 7,139,546 39 36 37 ,,, -4 0 1 dbSNP_80 37 866,2316 118,630,843 no intron,intron,intron,intron PRKCZ NM_001033581.1,NM_001033582.1,NM_001242874.1,NM_002744.4 ,,, 125,769,1389 GG,GA,AA 27.2156,11.0549,22.3171 ,,, ,,, 2077409 1019,3547 692 1591 2283 SO:0001627 intron_variant BC014270 CCDS37.1, CCDS41229.1, CCDS55563.1 1p36.33-p36.2 2009-07-10 ENSG00000067606 ENSG00000067606 5590 2.7.11.1 9412 protein-coding gene gene with protein product 176982 NA Standard NM_002744 NM_001242874 NA Approved PKC2 uc001aiq.3 Q05513 OTTHUMG00000001238 ENST00000400921.2:c.4-57A>G chr1.hg19:g.2077409A>G NA A8K4N0|A8MU64|B7Z2J7|E9PCW2|Q15207|Q5SYT5|Q969S4 hg19 CCDS41229.1 0.02 23.76843 TACxTTG COVERED NOVEL PRKCZ-009 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000098533.3 9 14.512031 KEEP 0 2 65 71 2255 AA 1 1 0 + 17 60 588 0 0 33.31329 587 60 21497 780 ENST00000400921.2 0.028146 1 SKI 6497 __UNKNOWN__ __UNKNOWN__ 1 2240383 2240383 __UNKNOWN__ 3'UTR SNP C C T rs2843157 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:2240383C>T ENST00000378536.4 + 0 4438 NM_003036.3 NP_003027.1 P12755 SKI_HUMAN SKI proto-oncogene NA NA anterior/posterior axis specification (GO:0009948)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|gene expression (GO:0010467)|lens morphogenesis in camera-type eye (GO:0002089)|myelination in peripheral nervous system (GO:0022011)|myotube differentiation (GO:0014902)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neural tube closure (GO:0001843)|nose morphogenesis (GO:0043585)|olfactory bulb development (GO:0021772)|palate development (GO:0060021)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|retina development in camera-type eye (GO:0060041)|skeletal muscle fiber development (GO:0048741)|SMAD protein signal transduction (GO:0060395)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179) centrosome (GO:0005813)|cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053) chromatin binding (GO:0003682)|histone deacetylase inhibitor activity (GO:0046811)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|repressing transcription factor binding (GO:0070491)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270) central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1) 10 all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207) TTCCCCACTTCGGCTCTGGGA 0.677 NA C||| 386 0.0770767 0.0083 0.2118 5008 , , NA 16285 0.0377 NA 0.1153 False NA ,,, NA NA NA 2504 0.0757 NA NA NA Ovarian(177;144 1678 13697 20086 27838 40755) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X15218 CCDS39.1 1p36.33 2014-06-25 2014-06-25 ENSG00000157933 ENSG00000157933 6497 SKI transcriptional corepressors 10896 protein-coding gene gene with protein product 164780 v-ski avian sarcoma viral oncogene homolog NA 2762147 Standard NM_003036 NM_003036 NA Approved uc001aja.4 P12755 OTTHUMG00000001407 ENST00000378536.4:c.*2179C>T chr1.hg19:g.2240383C>T NA Q5SYT7 hg19 CCDS39.1 0.02 16.270252 CTTxGGC COVERED NOVEL SKI-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000004070.1 2 41.222049 KEEP 0 3 88 168 5587 CC 1 1 0 + 13 60 438 0 0 24.954409 402 60 13396 758 ENST00000378536.4 0.031325 1 PEX10 5192 __UNKNOWN__ __UNKNOWN__ 1 2337277 2337277 __UNKNOWN__ Intron SNP C C T rs11586985 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:2337277C>T ENST00000507596.1 - 6 950 PEX10_ENST00000447513.2_Intron|PEX10_ENST00000288774.3_Intron O60683 PEX10_HUMAN peroxisomal biogenesis factor 10 NA NA peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558) integral component of peroxisomal membrane (GO:0005779)|intracellular (GO:0005622)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777) protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2) 7 all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00102)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0169)|Lung(427;0.199) ACTCCGCCTGCGGAGAGGAGA 0.627 NA C||| 405 0.0808706 0.0068 0.0778 5008 , , NA 14197 0.1151 NA 0.1272 False NA ,,, NA NA NA 2504 0.1002 NA NA NA GBM(12;9 508 1649 13619) NA 0 C , 108,4270 1,106,2082 13 15 14 , -6.1 0 1 dbSNP_120 14 956,7634 56,844,3395 no intron,intron PEX10 NM_002617.3,NM_153818.1 , 57,950,5477 TT,TC,CC 11.1292,2.4669,8.2048 , , 2337277 1064,11904 2189 4295 6484 SO:0001627 intron_variant AF060502 CCDS41.1, CCDS44045.1 1p36.32 2013-01-09 2008-08-26 ENSG00000157911 ENSG00000157911 5192 RING-type (C3HC4) zinc fingers 8851 protein-coding gene gene with protein product 602859 peroxisome biogenesis factor 10 NA 9683594 Standard NM_153818 NM_002617 NA Approved RNF69 uc001ajg.3 O60683 OTTHUMG00000001637 ENST00000507596.1:c.913-10G>A chr1.hg19:g.2337277C>T NA B3KWD8|Q5T095|Q9BW90 hg19 0.02 6.334412 CTGxGGA COVERED NOVEL PEX10-003 NOVEL basic|appris_principal protein_coding NA protein_coding OTTHUMT00000367455.1 1 15.04501 KEEP 0 0 0 50 1607 CC 1 1 0 - 6 60 215 0 0 13.208979 157 60 5144 237 ENST00000507596.1 0.03681 1 TTC34 100287898 __UNKNOWN__ __UNKNOWN__ 1 2585583 2585583 __UNKNOWN__ Intron SNP C C G rs6678990 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:2585583C>G ENST00000401094.6 - 5 524 TTC34_ENST00000401095.3_Intron A8MYJ7 TTC34_HUMAN tetratricopeptide repeat domain 34 NA NA NA AGGCGAGCATCTGAACGCACG 0.647 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS55565.1 1p36.32 2013-01-11 ENSG00000215912 ENSG00000215912 100287898 Tetratricopeptide (TTC) repeat domain containing 34297 protein-coding gene gene with protein product NA Standard XM_002342015 NM_001242672 NA Approved uc021oey.1 A8MYJ7 OTTHUMG00000000539 ENST00000401094.6:c.97-8581G>C chr1.hg19:g.2585583C>G NA A8MXL8 hg19 0.02 2.558034 CATxTGA COVERED NOVEL TTC34-001 NOVEL NMD_exception|basic|appris_candidate protein_coding NA protein_coding OTTHUMT00000438565.2 9 3.912144 KEEP 5 0 0 13 444 CC 0.993072 0.967218 0 - 4 60 130 0 0 11.747718 7 49 253 91 ENST00000401094.6 0.363636 0.973965 ACTRT2 140625 __UNKNOWN__ __UNKNOWN__ 1 2938265 2938265 __UNKNOWN__ Silent SNP C C T rs4576609 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:2938265C>T ENST00000378404.2 + 1 220 c.15C>T c.(13-15)caC>caT p.H5H NM_080431.4 NP_536356.3 Q8TDY3 ACTT2_HUMAN actin-related protein T2 5 NA cytoplasm (GO:0005737)|cytoskeleton (GO:0005856) breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909) all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125) TTAATCCGCACGCTTTAGACT 0.567 NA C||| 1010 0.201677 0.1324 0.2406 5008 , , NA 17517 0.3978 NA 0.161 False NA ,,, NA NA NA 2504 0.1074 NA NA NA NA 0 C 624,3782 251.8+/-258.4 49,526,1628 56 62 60 15 -4 0 1 dbSNP_111 60 1537,7063 286.6+/-297.8 124,1289,2887 no coding-synonymous ACTRT2 NM_080431.4 173,1815,4515 TT,TC,CC 17.8721,14.1625,16.6154 5/378 2938265 2161,10845 2203 4300 6503 SO:0001819 synonymous_variant AF440740, AB057364 CCDS45.1 1p36.3 2008-02-05 2005-11-22 ENSG00000169717 ENSG00000169717 140625 24026 protein-coding gene gene with protein product 608535 NA 11750065, 12243744 Standard NM_080431 NM_080431 NA Approved Arp-T2, ARPM2, FLJ25424 uc001ajz.3 Q8TDY3 OTTHUMG00000000562 ENST00000378404.2:c.15C>T chr1.hg19:g.2938265C>T NA B1AN52|Q8NHS6|Q8TDG1 hg19 CCDS45.1 0.02 3.857951 GCAxGCT COVERED NOVEL ACTRT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000001331.1 0 3.310629 KEEP 0 0 0 11 377 CC 0.993072 0.993072 0 + 5 60 172 0 0 10.245311 134 60 4453 159 ENST00000378404.2 0.035971 1 ACTRT2 140625 __UNKNOWN__ __UNKNOWN__ 1 2938697 2938697 __UNKNOWN__ Silent SNP T T G rs3795262 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:2938697T>G ENST00000378404.2 + 1 652 c.447T>G c.(445-447)tcT>tcG p.S149S NM_080431.4 NP_536356.3 Q8TDY3 ACTT2_HUMAN actin-related protein T2 149 NA cytoplasm (GO:0005737)|cytoskeleton (GO:0005856) breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909) all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125) TCTACGCCTCTGCCTGTGTCA 0.622 NA G||| 1047 0.209065 0.1657 0.2435 5008 , , NA 18354 0.3958 NA 0.163 False NA ,,, NA NA NA 2504 0.0982 NA NA NA NA 0 G 736,3670 756.4+/-412.6 65,606,1532 63 58 59 447 -9.7 0.4 1 dbSNP_107 59 1542,7058 744.7+/-407.2 125,1292,2883 no coding-synonymous ACTRT2 NM_080431.4 190,1898,4415 GG,GT,TT 17.9302,16.7045,17.515 149/378 2938697 2278,10728 2203 4300 6503 SO:0001819 synonymous_variant AF440740, AB057364 CCDS45.1 1p36.3 2008-02-05 2005-11-22 ENSG00000169717 ENSG00000169717 140625 24026 protein-coding gene gene with protein product 608535 NA 11750065, 12243744 Standard NM_080431 NM_080431 NA Approved Arp-T2, ARPM2, FLJ25424 uc001ajz.3 Q8TDY3 OTTHUMG00000000562 ENST00000378404.2:c.447T>G chr1.hg19:g.2938697T>G NA B1AN52|Q8NHS6|Q8TDG1 hg19 CCDS45.1 0.02 17.673105 CTCxGCC COVERED NOVEL ACTRT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000001331.1 2 16.523553 KEEP 0 0 0 55 1710 TT 1 1 0 + 18 60 618 0 0 38.727871 396 60 14637 571 ENST00000378404.2 0.043478 1 PRDM16 63976 __UNKNOWN__ __UNKNOWN__ 1 3350173 3350173 __UNKNOWN__ Intron SNP T T C rs2493271 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:3350173T>C ENST00000270722.5 + 17 3745 PRDM16_ENST00000514189.1_Intron|PRDM16_ENST00000441472.2_Intron|PRDM16_ENST00000378398.3_Intron|PRDM16_ENST00000378391.2_Intron|PRDM16_ENST00000512462.1_Intron|PRDM16_ENST00000442529.2_Intron|PRDM16_ENST00000511072.1_Intron Q9HAZ2 PRD16_HUMAN PR domain containing 16 NA NA brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872) nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053) metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713) breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3) 59 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) cctgcctgtctgggatggccc 0.687 NA T EVI1 MDS, AML t||| 2022 0.403754 0.7451 0.2579 5008 , , NA 11510 0.376 NA 0.2495 False NA ,,, NA NA NA 2504 0.2331 NA NA NA Dom yes 1 1p36.23-p33 63976 PR domain containing 16 L 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF294278 CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2 1p36.23-p33 2013-01-08 ENSG00000142611 ENSG00000142611 63976 Zinc fingers, C2H2-type 14000 protein-coding gene gene with protein product MDS1/EVI1-like, PR-domain zinc finger protein 16, transcription factor MEL1 605557 NA 11050005 Standard NM_022114 NM_199454 NA Approved MEL1, PFM13, KIAA1675, MGC166915 uc001akf.3 Q9HAZ2 OTTHUMG00000000581 ENST00000270722.5:c.3697-68T>C chr1.hg19:g.3350173T>C NA A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8 hg19 CCDS41236.2 0.02 6.907405 GTCxGGG COVERED NOVEL PRDM16-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000001382.3 0 4.814233 KEEP 6 0 0 16 487 TT 0.997832 0.997832 0 + 11 60 386 0 0 26.414257 151 60 5393 198 ENST00000270722.5 0.067901 1 PRDM16 63976 __UNKNOWN__ __UNKNOWN__ 1 3350409 3350409 __UNKNOWN__ 3'UTR SNP G G A rs3748837 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:3350409G>A ENST00000270722.5 + 0 3914 PRDM16_ENST00000514189.1_3'UTR|PRDM16_ENST00000441472.2_3'UTR|PRDM16_ENST00000378398.3_3'UTR|PRDM16_ENST00000378391.2_3'UTR|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000442529.2_3'UTR|PRDM16_ENST00000511072.1_3'UTR Q9HAZ2 PRD16_HUMAN PR domain containing 16 NA NA brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872) nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053) metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713) breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3) 59 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) TGGCCAGAGCGAGGGCACCAG 0.677 NA T EVI1 MDS, AML g||| 492 0.0982428 0.0061 0.0288 5008 , , NA 12881 0.3214 NA 0.0239 False NA ,,, NA NA NA 2504 0.1186 NA NA NA Dom yes 1 1p36.23-p33 63976 PR domain containing 16 L 0 , 34,3882 0,34,1924 14 18 17 , -3.8 0 1 dbSNP_107 17 218,7992 8,202,3895 no utr-3,utr-3 PRDM16 NM_022114.3,NM_199454.2 , 8,236,5819 AA,AG,GG 2.6553,0.8682,2.0782 , , 3350409 252,11874 1958 4105 6063 SO:0001624 3_prime_UTR_variant AF294278 CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2 1p36.23-p33 2013-01-08 ENSG00000142611 ENSG00000142611 63976 Zinc fingers, C2H2-type 14000 protein-coding gene gene with protein product MDS1/EVI1-like, PR-domain zinc finger protein 16, transcription factor MEL1 605557 NA 11050005 Standard NM_022114 NM_199454 NA Approved MEL1, PFM13, KIAA1675, MGC166915 uc001akf.3 Q9HAZ2 OTTHUMG00000000581 ENST00000270722.5:c.*34G>A chr1.hg19:g.3350409G>A NA A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8 hg19 CCDS41236.2 0.02 9.733727 AGCxAGG COVERED NOVEL PRDM16-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000001382.3 4 11.73136 KEEP 0 0 0 39 1296 GG 1 1 0 + 10 60 343 0 0 20.26003 276 60 9620 372 ENST00000270722.5 0.034965 1 PRDM16 63976 __UNKNOWN__ __UNKNOWN__ 1 3352009 3352009 __UNKNOWN__ 3'UTR SNP G G A rs12037306 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:3352009G>A ENST00000270722.5 + 0 5514 PRDM16_ENST00000441472.2_3'UTR|PRDM16_ENST00000378398.3_3'UTR|PRDM16_ENST00000442529.2_3'UTR Q9HAZ2 PRD16_HUMAN PR domain containing 16 NA NA brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872) nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053) metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713) breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3) 59 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) CCCTGCTGCCGTTTACCAGAC 0.408 NA T EVI1 MDS, AML G||| 487 0.0972444 0.0015 0.0231 5008 , , NA 14975 0.3462 NA 0.0199 False NA ,,, NA NA NA 2504 0.1022 NA NA NA Dom yes 1 1p36.23-p33 63976 PR domain containing 16 L 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF294278 CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2 1p36.23-p33 2013-01-08 ENSG00000142611 ENSG00000142611 63976 Zinc fingers, C2H2-type 14000 protein-coding gene gene with protein product MDS1/EVI1-like, PR-domain zinc finger protein 16, transcription factor MEL1 605557 NA 11050005 Standard NM_022114 NM_199454 NA Approved MEL1, PFM13, KIAA1675, MGC166915 uc001akf.3 Q9HAZ2 OTTHUMG00000000581 ENST00000270722.5:c.*1634G>A chr1.hg19:g.3352009G>A NA A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8 hg19 CCDS41236.2 0.02 3.786622 GCCxTTT COVERED NOVEL PRDM16-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000001382.3 2 6.922192 KEEP 0 0 0 23 803 GG 0.999892 0.999892 0 + 6 60 219 0 0 13.898502 140 60 5050 212 ENST00000270722.5 0.041096 1 PRDM16 63976 __UNKNOWN__ __UNKNOWN__ 1 3352227 3352227 __UNKNOWN__ 3'UTR SNP T T C rs1537406|rs71492334 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:3352227T>C ENST00000270722.5 + 0 5732 PRDM16_ENST00000441472.2_3'UTR|PRDM16_ENST00000378398.3_3'UTR|PRDM16_ENST00000442529.2_3'UTR Q9HAZ2 PRD16_HUMAN PR domain containing 16 NA NA brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872) nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053) metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713) breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3) 59 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) TTGTGTCACGTGTGGACATCT 0.502 NA T EVI1 MDS, AML C||| 4452 0.888978 0.9947 0.7205 5008 , , NA 16273 0.8095 NA 0.9433 False NA ,,, NA NA NA 2504 0.8916 NA NA NA Dom yes 1 1p36.23-p33 63976 PR domain containing 16 L 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF294278 CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2 1p36.23-p33 2013-01-08 ENSG00000142611 ENSG00000142611 63976 Zinc fingers, C2H2-type 14000 protein-coding gene gene with protein product MDS1/EVI1-like, PR-domain zinc finger protein 16, transcription factor MEL1 605557 NA 11050005 Standard NM_022114 NM_199454 NA Approved MEL1, PFM13, KIAA1675, MGC166915 uc001akf.3 Q9HAZ2 OTTHUMG00000000581 ENST00000270722.5:c.*1852T>C chr1.hg19:g.3352227T>C NA A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8 hg19 CCDS41236.2 0.02 10.361496 ACGxGTG COVERED NOVEL PRDM16-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000001382.3 0 5.484619 KEEP 0 2 65 41 1262 TT 1 1 0 + 12 60 371 0 0 22.192071 248 60 8722 372 ENST00000270722.5 0.046154 1 PRDM16 63976 __UNKNOWN__ __UNKNOWN__ 1 3352503 3352503 __UNKNOWN__ 3'UTR SNP G G C rs1537404 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:3352503G>C ENST00000270722.5 + 0 6008 PRDM16_ENST00000441472.2_3'UTR|PRDM16_ENST00000378398.3_3'UTR|PRDM16_ENST00000442529.2_3'UTR Q9HAZ2 PRD16_HUMAN PR domain containing 16 NA NA brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872) nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053) metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713) breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3) 59 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) GGGTGGCCCCGCCGGGGCAGC 0.647 NA T EVI1 MDS, AML C||| 4444 0.88738 0.9955 0.7118 5008 , , NA 12105 0.8085 NA 0.9433 False NA ,,, NA NA NA 2504 0.8896 NA NA NA Dom yes 1 1p36.23-p33 63976 PR domain containing 16 L 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF294278 CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2 1p36.23-p33 2013-01-08 ENSG00000142611 ENSG00000142611 63976 Zinc fingers, C2H2-type 14000 protein-coding gene gene with protein product MDS1/EVI1-like, PR-domain zinc finger protein 16, transcription factor MEL1 605557 NA 11050005 Standard NM_022114 NM_199454 NA Approved MEL1, PFM13, KIAA1675, MGC166915 uc001akf.3 Q9HAZ2 OTTHUMG00000000581 ENST00000270722.5:c.*2128G>C chr1.hg19:g.3352503G>C NA A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8 hg19 CCDS41236.2 0.02 22.088696 CCCxCCG COVERED NOVEL PRDM16-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000001382.3 2 7.730833 KEEP 0 3 113 65 2200 GG 1 1 0 + 16 60 571 0 0 33.754982 503 60 16811 718 ENST00000270722.5 0.030829 1 PRDM16 63976 __UNKNOWN__ __UNKNOWN__ 1 3352541 3352541 __UNKNOWN__ 3'UTR SNP T T C rs1065247 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:3352541T>C ENST00000270722.5 + 0 6046 PRDM16_ENST00000441472.2_3'UTR|PRDM16_ENST00000378398.3_3'UTR|PRDM16_ENST00000442529.2_3'UTR Q9HAZ2 PRD16_HUMAN PR domain containing 16 NA NA brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872) nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053) metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713) breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3) 59 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) AAGAGCCAGCTGGCGTGTCGG 0.647 NA T EVI1 MDS, AML C||| 3726 0.74401 0.6687 0.6153 5008 , , NA 13240 0.7659 NA 0.8419 False NA ,,, NA NA NA 2504 0.8139 NA NA NA Dom yes 1 1p36.23-p33 63976 PR domain containing 16 L 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF294278 CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2 1p36.23-p33 2013-01-08 ENSG00000142611 ENSG00000142611 63976 Zinc fingers, C2H2-type 14000 protein-coding gene gene with protein product MDS1/EVI1-like, PR-domain zinc finger protein 16, transcription factor MEL1 605557 NA 11050005 Standard NM_022114 NM_199454 NA Approved MEL1, PFM13, KIAA1675, MGC166915 uc001akf.3 Q9HAZ2 OTTHUMG00000000581 ENST00000270722.5:c.*2166T>C chr1.hg19:g.3352541T>C NA A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8 hg19 CCDS41236.2 0.02 24.71221 AGCxGGC COVERED NOVEL PRDM16-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000001382.3 3 2.477999 KEEP 0 5 159 64 2000 TT 1 1 0 + 21 60 722 1 0 43.036529 573 60 20949 786 ENST00000270722.5 0.035354 1 PRDM16 63976 __UNKNOWN__ __UNKNOWN__ 1 3352872 3352872 __UNKNOWN__ 3'UTR SNP A A C rs2236518 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:3352872A>C ENST00000270722.5 + 0 6377 PRDM16_ENST00000441472.2_3'UTR|PRDM16_ENST00000378398.3_3'UTR|PRDM16_ENST00000442529.2_3'UTR Q9HAZ2 PRD16_HUMAN PR domain containing 16 NA NA brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872) nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053) metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713) breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3) 59 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) AGCCGCCCTTACCGTTGGTCT 0.567 NA T EVI1 MDS, AML A||| 2312 0.461661 0.6899 0.3559 5008 , , NA 13403 0.5516 NA 0.2366 False NA ,,, NA NA NA 2504 0.3671 NA NA NA Dom yes 1 1p36.23-p33 63976 PR domain containing 16 L 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF294278 CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2 1p36.23-p33 2013-01-08 ENSG00000142611 ENSG00000142611 63976 Zinc fingers, C2H2-type 14000 protein-coding gene gene with protein product MDS1/EVI1-like, PR-domain zinc finger protein 16, transcription factor MEL1 605557 NA 11050005 Standard NM_022114 NM_199454 NA Approved MEL1, PFM13, KIAA1675, MGC166915 uc001akf.3 Q9HAZ2 OTTHUMG00000000581 ENST00000270722.5:c.*2497A>C chr1.hg19:g.3352872A>C NA A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8 hg19 CCDS41236.2 0.02 6.135866 CTTxCCG COVERED NOVEL PRDM16-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000001382.3 1 4.948853 KEEP 0 2 32 28 815 AA 0.999997 0.999997 0 + 13 60 410 0 0 27.383331 173 60 5608 265 ENST00000270722.5 0.069892 1 PRDM16 63976 __UNKNOWN__ __UNKNOWN__ 1 3353949 3353949 __UNKNOWN__ 3'UTR SNP A A G rs2493264 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:3353949A>G ENST00000270722.5 + 0 7454 PRDM16_ENST00000441472.2_3'UTR|PRDM16_ENST00000378398.3_3'UTR|PRDM16_ENST00000442529.2_3'UTR Q9HAZ2 PRD16_HUMAN PR domain containing 16 NA NA brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872) nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053) metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713) breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3) 59 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) TCGAAGCCTCAAAGCACTGGA 0.557 NA T EVI1 MDS, AML G||| 4521 0.902756 0.9955 0.8228 5008 , , NA 18924 0.7956 NA 0.9463 False NA ,,, NA NA NA 2504 0.8998 NA NA NA Dom yes 1 1p36.23-p33 63976 PR domain containing 16 L 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF294278 CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2 1p36.23-p33 2013-01-08 ENSG00000142611 ENSG00000142611 63976 Zinc fingers, C2H2-type 14000 protein-coding gene gene with protein product MDS1/EVI1-like, PR-domain zinc finger protein 16, transcription factor MEL1 605557 NA 11050005 Standard NM_022114 NM_199454 NA Approved MEL1, PFM13, KIAA1675, MGC166915 uc001akf.3 Q9HAZ2 OTTHUMG00000000581 ENST00000270722.5:c.*3574A>G chr1.hg19:g.3353949A>G NA A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8 hg19 CCDS41236.2 0.02 17.67787 CTCxAAG COVERED NOVEL PRDM16-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000001382.3 6 2.982868 KEEP 0 5 166 68 2157 AA 1 1 0 + 23 60 757 0 0 48.492823 378 60 13818 594 ENST00000270722.5 0.057357 1 ARHGEF16 27237 __UNKNOWN__ __UNKNOWN__ 1 3383898 3383898 __UNKNOWN__ Silent SNP A A G rs6424078 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:3383898A>G ENST00000378378.4 + 4 1206 c.801A>G c.(799-801)ccA>ccG p.P267P ARHGEF16_ENST00000378371.2_5'UTR|ARHGEF16_ENST00000378373.1_5'UTR NM_014448.3 NP_055263.2 Q5VV41 ARHGG_HUMAN Rho guanine nucleotide exchange factor (GEF) 16 267 NA activation of Cdc42 GTPase activity (GO:0032864)|activation of Rac GTPase activity (GO:0032863)|apoptotic signaling pathway (GO:0097190)|cell chemotaxis (GO:0060326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829) PDZ domain binding (GO:0030165)|receptor tyrosine kinase binding (GO:0030971)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) lung(6)|ovary(1) 7 all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101) all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211) Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201) GCCAGCTCCCAGAGGTAGCGC 0.677 NA G||| 4307 0.860024 0.8563 0.8343 5008 , , NA 15420 0.8026 NA 0.9125 False NA ,,, NA NA NA 2504 0.8885 NA NA NA NA 0 G 1207,177 531,145,16 30 39 37 801 -8.4 0.1 1 dbSNP_116 37 2887,291 1309,269,11 no coding-synonymous ARHGEF16 NM_014448.3 1840,414,27 GG,GA,AA 9.1567,12.789,10.2587 267/710 3383898 4094,468 692 1589 2281 SO:0001819 synonymous_variant D89016 CCDS46.2 1p36.3 2013-01-10 2010-04-13 ENSG00000130762 ENSG00000130762 27237 Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing 15515 protein-coding gene gene with protein product putative neuroblastoma protein NA Standard NM_014448 NM_014448 NA Approved NBR, GEF16 uc001akg.4 Q5VV41 OTTHUMG00000000625 ENST00000378378.4:c.801A>G chr1.hg19:g.3383898A>G NA Q86TF0|Q99434 hg19 CCDS46.2 0.02 1.842453 CCCxGAG COVERED NOVEL ARHGEF16-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000001515.1 0 2.406858 KEEP 0 0 0 8 239 AT 0.99254 0.992165 0 + 5 60 181 0 0 12.230161 80 60 2956 104 ENST00000378378.4 0.058824 0.999622 ARHGEF16 27237 __UNKNOWN__ __UNKNOWN__ 1 3389727 3389727 __UNKNOWN__ Missense_Mutation SNP C C T rs2185639 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:3389727C>T ENST00000378378.4 + 7 1513 c.1108C>T c.(1108-1110)Cac>Tac p.H370Y ARHGEF16_ENST00000378371.2_Missense_Mutation_p.H82Y|ARHGEF16_ENST00000378373.1_Missense_Mutation_p.H82Y|ARHGEF16_ENST00000413250.2_Missense_Mutation_p.H74Y NM_014448.3 NP_055263.2 Q5VV41 ARHGG_HUMAN Rho guanine nucleotide exchange factor (GEF) 16 370 DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.|Required for RHOG activation and mediates interaction with EPHA2. NA H -> Y (in dbSNP:rs2185639). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.1, ECO:0000269|Ref.2}. activation of Cdc42 GTPase activity (GO:0032864)|activation of Rac GTPase activity (GO:0032863)|apoptotic signaling pathway (GO:0097190)|cell chemotaxis (GO:0060326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829) PDZ domain binding (GO:0030165)|receptor tyrosine kinase binding (GO:0030971)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) lung(6)|ovary(1) 7 all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101) all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211) Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201) CGCTGAGAAGCACTTCCACCC 0.632 NA C||| 3428 0.684505 0.385 0.755 5008 , , NA 15906 0.6746 NA 0.8638 False NA ,,, NA NA NA 2504 0.865 NA NA NA NA 0 C TYR/HIS 2063,2343 567.5+/-382.2 485,1093,625 161 115 130 1108 3.4 0.6 1 dbSNP_96 130 7501,1099 767.2+/-407.6 3263,975,62 yes missense ARHGEF16 NM_014448.3 83 3748,2068,687 TT,TC,CC 12.7791,46.8225,26.4647 benign 370/710 3389727 9564,3442 2203 4300 6503 SO:0001583 missense D89016 CCDS46.2 1p36.3 2013-01-10 2010-04-13 ENSG00000130762 ENSG00000130762 27237 Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing 15515 protein-coding gene gene with protein product putative neuroblastoma protein NA Standard NM_014448 NM_014448 NA Approved NBR, GEF16 uc001akg.4 Q5VV41 OTTHUMG00000000625 ENST00000378378.4:c.1108C>T chr1.hg19:g.3389727C>T ENSP00000367629:p.His370Tyr NA Q86TF0|Q99434 hg19 CCDS46.2 0.02 9.619043 AAGxACT COVERED 1512 0.6923076923076923 188 0.3821138211382114 264 0.7292817679558011 396 0.6923076923076923 664 0.8759894459102903 C 6.952 0.545543 0.13312 0.468225 0.872209 ENSG00000130762 ENST00000378378;ENST00000378373;ENST00000378371;ENST00000445297;ENST00000418137;ENST00000413250 T;T;T;T;T;T 0.61859 0.07;0.07;0.07;0.07;0.07;0.07 4.37 3.43 0.39272 Dbl homology (DH) domain (5); 0.066011 0.64402 D 0.000014 T 0.00012 0.0000 L 0.43152 1.355 0.18873 P 0.9999871625 B;B;B 0.14805 0.004;0.011;0.009 B;B;B 0.22152 0.012;0.021;0.038 T 0.43376 -0.9395 9 0.09843 T 0.71 -27.8133 7.8106 0.29228 0.1583:0.7572:0.0:0.0845 rs2185639;rs17844961;rs17857701;rs60580765;rs2185639 74;74;370 B4DJM7;B0QZD4;Q5VV41 .;.;ARHGG_HUMAN Y 370;82;82;82;74;74 ENSP00000367629:H370Y;ENSP00000367624:H82Y;ENSP00000367622:H82Y;ENSP00000411936:H82Y;ENSP00000390853:H74Y;ENSP00000408887:H74Y ENSP00000367622:H82Y H + 1 0 ARHGEF16 3379587 0.842000 0.29525 0.610000 0.28997 0.441000 0.31987 2.105000 0.41825 2.269000 0.75478 0.555000 0.69702 CAC NOVEL ARHGEF16-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000001515.1 0 4.415471 KEEP 0 3 77 42 1474 CC 1 1 0 + 9 60 303 0 0 17.577346 256 60 9615 404 ENST00000378378.4 0.033962 1 ARHGEF16 27237 __UNKNOWN__ __UNKNOWN__ 1 3395039 3395039 __UNKNOWN__ Silent SNP G G A rs10797395 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:3395039G>A ENST00000378378.4 + 12 2082 c.1677G>A c.(1675-1677)gtG>gtA p.V559V ARHGEF16_ENST00000378371.2_Silent_p.V271V|ARHGEF16_ENST00000378373.1_Silent_p.V271V|ARHGEF16_ENST00000413250.2_Silent_p.V263V NM_014448.3 NP_055263.2 Q5VV41 ARHGG_HUMAN Rho guanine nucleotide exchange factor (GEF) 16 559 PH. {ECO:0000255|PROSITE- ProRule:PRU00145}. NA activation of Cdc42 GTPase activity (GO:0032864)|activation of Rac GTPase activity (GO:0032863)|apoptotic signaling pathway (GO:0097190)|cell chemotaxis (GO:0060326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829) PDZ domain binding (GO:0030165)|receptor tyrosine kinase binding (GO:0030971)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) lung(6)|ovary(1) 7 all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101) all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211) Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201) ACATCCAGGTGGAGAAGATAG 0.652 NA G||| 3436 0.686102 0.3873 0.7637 5008 , , NA 17081 0.6766 NA 0.8628 False NA ,,, NA NA NA 2504 0.863 NA NA NA NA 0 G 2073,2325 564.1+/-381.3 495,1083,621 89 83 85 1677 -0.2 0.1 1 dbSNP_120 85 7453,1123 764.3+/-407.6 3231,991,66 no coding-synonymous ARHGEF16 NM_014448.3 3726,2074,687 AA,AG,GG 13.0947,47.1351,26.5762 559/710 3395039 9526,3448 2199 4288 6487 SO:0001819 synonymous_variant D89016 CCDS46.2 1p36.3 2013-01-10 2010-04-13 ENSG00000130762 ENSG00000130762 27237 Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing 15515 protein-coding gene gene with protein product putative neuroblastoma protein NA Standard NM_014448 NM_014448 NA Approved NBR, GEF16 uc001akg.4 Q5VV41 OTTHUMG00000000625 ENST00000378378.4:c.1677G>A chr1.hg19:g.3395039G>A NA Q86TF0|Q99434 hg19 CCDS46.2 0.02 15.789243 GGTxGAG COVERED NOVEL ARHGEF16-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000001515.1 2 5.222767 KEEP 0 3 96 51 1847 GG 1 1 0 + 12 60 438 0 0 26.423731 367 60 13769 549 ENST00000378378.4 0.031662 1 MEGF6 1953 __UNKNOWN__ __UNKNOWN__ 1 3440824 3440824 __UNKNOWN__ Intron SNP G G A rs10797399 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:3440824G>A ENST00000356575.4 - 5 708 MEGF6_ENST00000294599.4_Intron NM_001409.3 NP_001400.3 O75095 MEGF6_HUMAN multiple EGF-like-domains 6 NA NA extracellular region (GO:0005576) calcium ion binding (GO:0005509) cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105) all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211) Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213) AGCAGGAATGGGGAAGGATCA 0.667 NA G||| 1104 0.220447 0.1483 0.2622 5008 , , NA 18197 0.2153 NA 0.3151 False NA ,,, NA NA NA 2504 0.1963 NA NA NA Ovarian(73;978 3658) NA 0 G 611,3495 44,523,1486 53 61 58 2.3 0 1 dbSNP_120 58 2435,5959 369,1697,2131 no intron MEGF6 NM_001409.3 413,2220,3617 AA,AG,GG 29.0088,14.8807,24.368 3440824 3046,9454 2053 4197 6250 SO:0001627 intron_variant AB011539 CCDS41237.1 1p36.3 2008-02-05 2006-03-31 2006-03-31 ENSG00000162591 ENSG00000162591 1953 3232 protein-coding gene gene with protein product 604266 EGF-like-domain, multiple 3 EGFL3 NA 9693030 Standard NM_001409 NM_001409 NA Approved uc001akl.3 O75095 OTTHUMG00000000611 ENST00000356575.4:c.482-14C>T chr1.hg19:g.3440824G>A NA Q4AC86|Q5VV39 hg19 CCDS41237.1 0.02 6.868781 ATGxGGA COVERED NOVEL MEGF6-007 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000354866.1 1 4.749334 KEEP 0 1 29 26 900 GG 0.999988 0.999988 0 - 6 60 220 0 0 13.776591 153 60 5666 244 ENST00000356575.4 0.037736 1 TPRG1L 127262 __UNKNOWN__ __UNKNOWN__ 1 3545467 3545467 __UNKNOWN__ 3'UTR SNP T T C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:3545467T>C ENST00000378344.2 + 0 1190 TPRG1L_ENST00000344579.5_3'UTR NM_182752.3 NP_877429.2 Q5T0D9 TPRGL_HUMAN tumor protein p63 regulated 1-like NA NA cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|synaptic vesicle (GO:0008021) endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(1) 8 all_cancers(77;0.0119)|all_epithelial(69;0.00481)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172) all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211) Epithelial(90;3.41e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.83e-22)|GBM - Glioblastoma multiforme(42;4.77e-14)|Colorectal(212;1.12e-05)|COAD - Colon adenocarcinoma(227;5.61e-05)|Kidney(185;0.000351)|BRCA - Breast invasive adenocarcinoma(365;0.000688)|KIRC - Kidney renal clear cell carcinoma(229;0.00553)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.201) TTCTGGTGTTTTCCTTGAGTA 0.502 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC019034 CCDS47.1 1p36.32 2008-02-05 2008-01-16 2008-01-16 ENSG00000158109 ENSG00000158109 127262 27007 protein-coding gene gene with protein product 611460 family with sequence similarity 79, member A FAM79A NA 12477932 Standard NM_182752 NM_182752 NA Approved RP11-46F15.3, FLJ21811 uc001akm.3 Q5T0D9 OTTHUMG00000000609 ENST00000378344.2:c.*300T>C chr1.hg19:g.3545467T>C NA A8K1K4|Q8WV04 hg19 CCDS47.1 0.02 9.520028 GTTxTCC COVERED NOVEL TPRG1L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000001466.1 2 15.339828 KEEP 0 0 0 51 1522 TT 1 1 0 + 7 60 279 0 0 17.7708 213 60 7719 324 ENST00000378344.2 0.031818 1 TPRG1L 127262 __UNKNOWN__ __UNKNOWN__ 1 3545612 3545612 __UNKNOWN__ 3'UTR SNP A A G rs1128474 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:3545612A>G ENST00000378344.2 + 0 1335 TPRG1L_ENST00000344579.5_3'UTR NM_182752.3 NP_877429.2 Q5T0D9 TPRGL_HUMAN tumor protein p63 regulated 1-like NA NA cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|synaptic vesicle (GO:0008021) endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(1) 8 all_cancers(77;0.0119)|all_epithelial(69;0.00481)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172) all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211) Epithelial(90;3.41e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.83e-22)|GBM - Glioblastoma multiforme(42;4.77e-14)|Colorectal(212;1.12e-05)|COAD - Colon adenocarcinoma(227;5.61e-05)|Kidney(185;0.000351)|BRCA - Breast invasive adenocarcinoma(365;0.000688)|KIRC - Kidney renal clear cell carcinoma(229;0.00553)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.201) AGTTGCAAGTATGTTTACACC 0.502 NA A||| 1027 0.205072 0.0303 0.1571 5008 , , NA 17864 0.3313 NA 0.2525 False NA ,,, NA NA NA 2504 0.2965 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC019034 CCDS47.1 1p36.32 2008-02-05 2008-01-16 2008-01-16 ENSG00000158109 ENSG00000158109 127262 27007 protein-coding gene gene with protein product 611460 family with sequence similarity 79, member A FAM79A NA 12477932 Standard NM_182752 NM_182752 NA Approved RP11-46F15.3, FLJ21811 uc001akm.3 Q5T0D9 OTTHUMG00000000609 ENST00000378344.2:c.*445A>G chr1.hg19:g.3545612A>G NA A8K1K4|Q8WV04 hg19 CCDS47.1 0.02 4.399813 AGTxTGT COVERED NOVEL TPRG1L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000001466.1 1 8.118746 KEEP 0 0 0 27 789 AA 0.999988 0.999988 0 + 7 60 257 0 0 17.111529 127 60 4637 175 ENST00000378344.2 0.052239 1 CCDC27 148870 __UNKNOWN__ __UNKNOWN__ 1 3683914 3683914 __UNKNOWN__ Missense_Mutation SNP T T A rs2275839 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:3683914T>A ENST00000294600.2 + 10 1732 c.1648T>A c.(1648-1650)Tgg>Agg p.W550R NM_152492.2 NP_689705.2 Q2M243 CCD27_HUMAN coiled-coil domain containing 27 550 NA breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2) 36 all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218) all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127) Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203) CCTGCAGAGGTGGAAGCAGCT 0.587 NA T||| 137 0.0273562 0.003 0.0346 5008 , , NA 18140 0.0883 NA 0.003 False NA ,,, NA NA NA 2504 0.0174 NA NA NA NA 0 T ARG/TRP 7,4399 12.9+/-30.5 0,7,2196 57 54 55 1648 -4.7 0 1 dbSNP_100 55 9,8591 6.4+/-24.3 0,9,4291 yes missense CCDC27 NM_152492.2 101 0,16,6487 AA,AT,TT 0.1047,0.1589,0.123 benign 550/657 3683914 16,12990 2203 4300 6503 SO:0001583 missense CCDS50.1 1p36.32 2008-02-05 ENSG00000162592 ENSG00000162592 148870 26546 protein-coding gene gene with protein product NA Standard NM_152492 NM_152492 NA Approved FLJ32825 uc001akv.2 Q2M243 OTTHUMG00000003504 ENST00000294600.2:c.1648T>A chr1.hg19:g.3683914T>A ENSP00000294600:p.Trp550Arg NA Q5TBV3|Q96M50 hg19 CCDS50.1 0.02 13.29813 AGGxGGA COVERED 77 0.035256410256410256 3 0.006097560975609756 9 0.024861878453038673 62 0.10839160839160839 3 0.00395778364116095 T 0.009 -1.828629 0.00584 0.001589 0.001047 ENSG00000162592 ENST00000294600 T 0.17854 2.25 5.24 -4.72 0.03269 . 1.201390 0.05988 N 0.645477 T 0.00144 0.0004 N 0.11560 0.145 0.09310 N 1 B 0.18166 0.026 B 0.20384 0.029 T 0.36866 -0.9730 10 0.11485 T 0.65 -4.4995 2.0617 0.03593 0.1259:0.302:0.1257:0.4465 rs2275839;rs56771743 550 Q2M243 CCD27_HUMAN R 550 ENSP00000294600:W550R ENSP00000294600:W550R W + 1 0 CCDC27 3673774 0.000000 0.05858 0.000000 0.03702 0.098000 0.18820 -0.510000 0.06328 -0.854000 0.04131 0.533000 0.62120 TGG NOVEL CCDC27-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000009740.1 2 18.051449 KEEP 0 0 0 60 1841 TT 1 1 0 + 13 60 484 0 0 30.753783 321 60 11328 455 ENST00000294600.2 0.038922 1 CCDC27 148870 __UNKNOWN__ __UNKNOWN__ 1 3686318 3686318 __UNKNOWN__ Intron SNP G G A rs2275837 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:3686318G>A ENST00000294600.2 + 11 1827 NM_152492.2 NP_689705.2 Q2M243 CCD27_HUMAN coiled-coil domain containing 27 NA NA breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2) 36 all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218) all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127) Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203) GGGTAAAGGCGAATGATAGTG 0.517 NA G||| 174 0.0347444 0.003 0.0447 5008 , , NA 17061 0.0923 NA 0.0268 False NA ,,, NA NA NA 2504 0.0194 NA NA NA NA 0 G 15,4391 22.3+/-47.3 0,15,2188 128 98 108 -4.5 0 1 dbSNP_100 108 134,8466 66.0+/-128.3 0,134,4166 no intron CCDC27 NM_152492.2 0,149,6354 AA,AG,GG 1.5581,0.3404,1.1456 3686318 149,12857 2203 4300 6503 SO:0001627 intron_variant CCDS50.1 1p36.32 2008-02-05 ENSG00000162592 ENSG00000162592 148870 26546 protein-coding gene gene with protein product NA Standard NM_152492 NM_152492 NA Approved FLJ32825 uc001akv.2 Q2M243 OTTHUMG00000003504 ENST00000294600.2:c.1744-29G>A chr1.hg19:g.3686318G>A NA Q5TBV3|Q96M50 hg19 CCDS50.1 0.02 6.86129 GGCxAAT COVERED NOVEL CCDC27-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000009740.1 1 17.127284 KEEP 0 0 0 57 1894 GG 1 1 0 + 6 60 224 1 0 13.648073 188 60 6419 310 ENST00000294600.2 0.030928 1 CCDC27 148870 __UNKNOWN__ __UNKNOWN__ 1 3687889 3687889 __UNKNOWN__ Intron SNP C C T rs76581100 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:3687889C>T ENST00000294600.2 + 12 1932 NM_152492.2 NP_689705.2 Q2M243 CCD27_HUMAN coiled-coil domain containing 27 NA NA breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2) 36 all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218) all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127) Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203) GCAGCTGGCACGGACTGTGCA 0.602 NA T||| 173 0.0345447 0.0038 0.0447 5008 , , NA 16295 0.0893 NA 0.0268 False NA ,,, NA NA NA 2504 0.0204 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS50.1 1p36.32 2008-02-05 ENSG00000162592 ENSG00000162592 148870 26546 protein-coding gene gene with protein product NA Standard NM_152492 NM_152492 NA Approved FLJ32825 uc001akv.2 Q2M243 OTTHUMG00000003504 ENST00000294600.2:c.1849-76C>T chr1.hg19:g.3687889C>T NA Q5TBV3|Q96M50 hg19 CCDS50.1 0.02 2.212524 GCAxGGA COVERED NOVEL CCDC27-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000009740.1 0 8.427374 KEEP 0 0 0 28 979 CC 0.999997 0.998864 0 + 5 60 191 0 0 13.452182 72 60 2530 119 ENST00000294600.2 0.064935 0.998867 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 3696770 3696770 __UNKNOWN__ IGR SNP T T C rs3737594|rs71592355 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:3696770T>C NA NA SMIM1 (4224 upstream) : LRRC47 (13 downstream) NA NA NA tcacagagtctttacacaagc 0.483 NA C||| 560 0.111821 0.1589 0.1023 5008 , , NA 22282 0.1101 NA 0.1213 False NA ,,, NA NA NA 2504 0.047 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.3696770T>C NA hg19 0.02 4.000445 GTCxTTA COVERED NOVEL 0 0 5.414701 KEEP 0 0 0 18 538 TT 0.999859 0.999859 0 6 70 203 0 0 12.551607 128 60 4677 160 0.044776 1 LRRC47 57470 __UNKNOWN__ __UNKNOWN__ 1 3698017 3698017 __UNKNOWN__ Intron SNP G G A rs12745312 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:3698017G>A ENST00000378251.1 - 6 1531 NM_020710.2 NP_065761.1 Q8N1G4 LRC47_HUMAN leucine rich repeat containing 47 NA NA phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1) 17 all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21) all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127) Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124) GGGAAGTCAAGGAGCAGAGCA 0.527 NA A||| 560 0.111821 0.1589 0.1023 5008 , , NA 17246 0.1101 NA 0.1213 False NA ,,, NA NA NA 2504 0.047 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB033011 CCDS51.1 1p36.32 2008-02-05 ENSG00000130764 ENSG00000130764 57470 29207 protein-coding gene gene with protein product NA 10574461 Standard NM_020710 NM_020710 NA Approved KIAA1185, RP1-286D6.3 uc001akx.1 Q8N1G4 OTTHUMG00000003506 ENST00000378251.1:c.1503+58C>T chr1.hg19:g.3698017G>A NA Q9ULN5 hg19 CCDS51.1 0.02 4.176992 CAAxGAG COVERED NOVEL LRRC47-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000009744.1 1 4.513762 KEEP 0 0 0 15 503 GG 0.99649 0.99649 0 - 5 60 191 0 0 11.99789 143 60 5422 184 ENST00000378251.1 0.033784 1 CEP104 9731 __UNKNOWN__ __UNKNOWN__ 1 3731617 3731617 __UNKNOWN__ 3'UTR SNP G G C rs3795255 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:3731617G>C ENST00000378230.3 - 0 3451 NM_014704.3 NP_055519.1 O60308 CE104_HUMAN centrosomal protein 104kDa NA NA centriole (GO:0005814) glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596) breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3) 39 AAGCGGGACCGTGCCTGTGCT 0.557 NA G||| 176 0.0351438 0.0038 0.049 5008 , , NA 19058 0.0893 NA 0.0288 False NA ,,, NA NA NA 2504 0.0184 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB011134 CCDS30571.1 1p36.32 2014-02-20 2011-05-06 2011-05-06 ENSG00000116198 ENSG00000116198 9731 24866 protein-coding gene gene with protein product glycine, glutamate, thienylcyclohexylpiperidine binding protein KIAA0562 KIAA0562 NA 7488117, 21399614 Standard NM_014704 NM_014704 NA Approved GlyBP, RP1-286D6.4 uc001aky.2 O60308 OTTHUMG00000003507 ENST00000378230.3:c.*349C>G chr1.hg19:g.3731617G>C NA Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14 hg19 CCDS30571.1 0.02 14.009888 ACCxTGC COVERED NOVEL CEP104-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000009747.3 1 18.660391 KEEP 0 0 0 62 2189 GG 1 1 0 - 9 60 348 0 0 21.420407 301 70 10565 456 ENST00000378230.3 0.029032 1 CEP104 9731 __UNKNOWN__ __UNKNOWN__ 1 3743186 3743186 __UNKNOWN__ Intron SNP C C T rs114208229 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:3743186C>T ENST00000378230.3 - 16 2513 NM_014704.3 NP_055519.1 O60308 CE104_HUMAN centrosomal protein 104kDa NA NA centriole (GO:0005814) glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596) breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3) 39 AGAAGCCGTTCCCACATGGAG 0.468 NA T||| 182 0.0363419 0.0098 0.0476 5008 , , NA 16900 0.0883 NA 0.0288 False NA ,,, NA NA NA 2504 0.0184 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB011134 CCDS30571.1 1p36.32 2014-02-20 2011-05-06 2011-05-06 ENSG00000116198 ENSG00000116198 9731 24866 protein-coding gene gene with protein product glycine, glutamate, thienylcyclohexylpiperidine binding protein KIAA0562 KIAA0562 NA 7488117, 21399614 Standard NM_014704 NM_014704 NA Approved GlyBP, RP1-286D6.4 uc001aky.2 O60308 OTTHUMG00000003507 ENST00000378230.3:c.2188+85G>A chr1.hg19:g.3743186C>T NA Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14 hg19 CCDS30571.1 0.02 23.68307 GTTxCCA COVERED NOVEL CEP104-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000009747.3 5 9.32989 KEEP 0 0 0 31 1077 CC 0.999997 0.999997 0 - 21 60 762 0 0 46.91271 566 60 21168 735 ENST00000378230.3 0.035775 1 CEP104 9731 __UNKNOWN__ __UNKNOWN__ 1 3743350 3743350 __UNKNOWN__ Intron SNP G G C rs58111155 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:3743350G>C ENST00000378230.3 - 16 2476 NM_014704.3 NP_055519.1 O60308 CE104_HUMAN centrosomal protein 104kDa NA NA centriole (GO:0005814) glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596) breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3) 39 AAGGGCTGCAGTGTGAGTGAG 0.448 NA G||| 259 0.0517173 0.0151 0.0461 5008 , , NA 20699 0.0883 NA 0.0179 False NA ,,, NA NA NA 2504 0.1022 NA NA NA NA 0 G 61,4345 58.7+/-95.3 1,59,2143 101 88 92 -3.1 0 1 dbSNP_129 92 192,8408 84.2+/-146.7 7,178,4115 no intron CEP104 NM_014704.3 8,237,6258 CC,CG,GG 2.2326,1.3845,1.9453 3743350 253,12753 2203 4300 6503 SO:0001627 intron_variant AB011134 CCDS30571.1 1p36.32 2014-02-20 2011-05-06 2011-05-06 ENSG00000116198 ENSG00000116198 9731 24866 protein-coding gene gene with protein product glycine, glutamate, thienylcyclohexylpiperidine binding protein KIAA0562 KIAA0562 NA 7488117, 21399614 Standard NM_014704 NM_014704 NA Approved GlyBP, RP1-286D6.4 uc001aky.2 O60308 OTTHUMG00000003507 ENST00000378230.3:c.2152-42C>G chr1.hg19:g.3743350G>C NA Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14 hg19 CCDS30571.1 0.02 19.413551 GCAxTGT COVERED NOVEL CEP104-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000009747.3 2 15.952281 KEEP 0 0 0 53 1930 GG 1 1 0 - 13 60 492 0 0 29.249625 486 70 18226 633 ENST00000378230.3 0.026052 1 CEP104 9731 __UNKNOWN__ __UNKNOWN__ 1 3746583 3746583 __UNKNOWN__ Intron SNP G G T rs2275828 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:3746583G>T ENST00000378230.3 - 14 2161 NM_014704.3 NP_055519.1 O60308 CE104_HUMAN centrosomal protein 104kDa NA NA centriole (GO:0005814) glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596) breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3) 39 AGGGGCTCTTGTTACTCATTC 0.368 NA G||| 1752 0.34984 0.236 0.4928 5008 , , NA 17254 0.3383 NA 0.4294 False NA ,,, NA NA NA 2504 0.3323 NA NA NA NA 0 G 1146,3260 362.9+/-316.3 168,810,1225 33 36 35 2 0 1 dbSNP_100 35 3707,4893 495.6+/-374.1 811,2085,1404 no intron CEP104 NM_014704.3 979,2895,2629 TT,TG,GG 43.1047,26.01,37.3135 3746583 4853,8153 2203 4300 6503 SO:0001627 intron_variant AB011134 CCDS30571.1 1p36.32 2014-02-20 2011-05-06 2011-05-06 ENSG00000116198 ENSG00000116198 9731 24866 protein-coding gene gene with protein product glycine, glutamate, thienylcyclohexylpiperidine binding protein KIAA0562 KIAA0562 NA 7488117, 21399614 Standard NM_014704 NM_014704 NA Approved GlyBP, RP1-286D6.4 uc001aky.2 O60308 OTTHUMG00000003507 ENST00000378230.3:c.1837-22C>A chr1.hg19:g.3746583G>T NA Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14 hg19 CCDS30571.1 0.02 1.695527 CTTxTTA COVERED NOVEL CEP104-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000009747.3 1 3.912529 KEEP 0 0 0 13 463 GG 0.994391 0.993506 0 - 4 60 134 0 0 8.462188 74 60 2794 105 ENST00000378230.3 0.051282 0.99911 CEP104 9731 __UNKNOWN__ __UNKNOWN__ 1 3756155 3756155 __UNKNOWN__ Intron SNP T T C rs2298224 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:3756155T>C ENST00000378230.3 - 7 1060 NM_014704.3 NP_055519.1 O60308 CE104_HUMAN centrosomal protein 104kDa NA NA centriole (GO:0005814) glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596) breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3) 39 AGGAACTGTTTTCTCCAAAGG 0.358 NA T||| 176 0.0351438 0.0053 0.0476 5008 , , NA 21662 0.0883 NA 0.0288 False NA ,,, NA NA NA 2504 0.0184 NA NA NA NA 0 T 21,4385 28.1+/-56.4 0,21,2182 127 125 126 -0.9 0 1 dbSNP_100 126 142,8458 67.3+/-129.8 2,138,4160 no intron CEP104 NM_014704.3 2,159,6342 CC,CT,TT 1.6512,0.4766,1.2533 3756155 163,12843 2203 4300 6503 SO:0001627 intron_variant AB011134 CCDS30571.1 1p36.32 2014-02-20 2011-05-06 2011-05-06 ENSG00000116198 ENSG00000116198 9731 24866 protein-coding gene gene with protein product glycine, glutamate, thienylcyclohexylpiperidine binding protein KIAA0562 KIAA0562 NA 7488117, 21399614 Standard NM_014704 NM_014704 NA Approved GlyBP, RP1-286D6.4 uc001aky.2 O60308 OTTHUMG00000003507 ENST00000378230.3:c.735+16A>G chr1.hg19:g.3756155T>C NA Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14 hg19 CCDS30571.1 0.02 11.079314 GTTxTCT COVERED NOVEL CEP104-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000009747.3 1 8.121375 KEEP 0 0 0 27 802 TT 0.999988 0.999988 0 - 10 60 370 0 0 23.25343 257 60 9140 330 ENST00000378230.3 0.037453 1 CEP104 9731 __UNKNOWN__ __UNKNOWN__ 1 3769033 3769033 __UNKNOWN__ Intron SNP A A T rs35876402|rs3819006 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:3769033A>T ENST00000378230.3 - 2 311 CEP104_ENST00000378223.3_Intron NM_014704.3 NP_055519.1 O60308 CE104_HUMAN centrosomal protein 104kDa NA NA centriole (GO:0005814) glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596) breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3) 39 GGAATTCACTAACACATGGAC 0.373 NA A||| 1598 0.319089 0.5363 0.2305 5008 , , NA 18829 0.1508 NA 0.3012 False NA ,,, NA NA NA 2504 0.2802 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB011134 CCDS30571.1 1p36.32 2014-02-20 2011-05-06 2011-05-06 ENSG00000116198 ENSG00000116198 9731 24866 protein-coding gene gene with protein product glycine, glutamate, thienylcyclohexylpiperidine binding protein KIAA0562 KIAA0562 NA 7488117, 21399614 Standard NM_014704 NM_014704 NA Approved GlyBP, RP1-286D6.4 uc001aky.2 O60308 OTTHUMG00000003507 ENST00000378230.3:c.14-48T>A chr1.hg19:g.3769033A>T NA Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14 hg19 CCDS30571.1 0.02 19.123098 ACTxACA COVERED NOVEL CEP104-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000009747.3 4 30.08367 KEEP 0 0 0 100 2976 AA 1 1 0 - 19 60 666 0 0 41.422766 445 60 16015 687 ENST00000378230.3 0.040948 1 CEP104 9731 __UNKNOWN__ __UNKNOWN__ 1 3769034 3769034 __UNKNOWN__ Intron SNP A A T rs35876402|rs3819007 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:3769034A>T ENST00000378230.3 - 2 311 CEP104_ENST00000378223.3_Intron NM_014704.3 NP_055519.1 O60308 CE104_HUMAN centrosomal protein 104kDa NA NA centriole (GO:0005814) glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596) breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3) 39 GAATTCACTAACACATGGACA 0.373 NA A||| 1598 0.319089 0.5363 0.2305 5008 , , NA 18876 0.1508 NA 0.3012 False NA ,,, NA NA NA 2504 0.2802 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB011134 CCDS30571.1 1p36.32 2014-02-20 2011-05-06 2011-05-06 ENSG00000116198 ENSG00000116198 9731 24866 protein-coding gene gene with protein product glycine, glutamate, thienylcyclohexylpiperidine binding protein KIAA0562 KIAA0562 NA 7488117, 21399614 Standard NM_014704 NM_014704 NA Approved GlyBP, RP1-286D6.4 uc001aky.2 O60308 OTTHUMG00000003507 ENST00000378230.3:c.14-49T>A chr1.hg19:g.3769034A>T NA Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14 hg19 CCDS30571.1 0.02 19.520834 CTAxCAC COVERED NOVEL CEP104-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000009747.3 4 29.787021 KEEP 0 0 0 99 3054 AA 1 1 0 - 20 60 717 0 0 45.514276 444 60 15972 683 ENST00000378230.3 0.043103 1 DFFB 1677 __UNKNOWN__ __UNKNOWN__ 1 3786245 3786245 __UNKNOWN__ Missense_Mutation SNP G G A rs12738235 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:3786245G>A ENST00000378209.3 + 5 910 c.587G>A c.(586-588)aGg>aAg p.R196K DFFB_ENST00000338895.3_Missense_Mutation_p.R196K NM_004402.2 NP_004393.1 O76075 DFFB_HUMAN DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase) 196 NA R -> K (in dbSNP:rs12738235). {ECO:0000269|PubMed:10830907}. apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921) cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899) endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227) all_cancers(23;2.05e-30)|all_epithelial(116;6.22e-21)|all_lung(118;2.65e-08)|Lung NSC(185;6.25e-06)|Breast(487;0.000659)|Renal(390;0.00121)|all_neural(13;0.0019)|Hepatocellular(190;0.00705)|Colorectal(325;0.0113)|all_hematologic(16;0.0194)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0548)|Medulloblastoma(700;0.211) Epithelial(90;1.18e-39)|OV - Ovarian serous cystadenocarcinoma(86;7.28e-23)|GBM - Glioblastoma multiforme(42;2.95e-17)|Colorectal(212;1.23e-05)|COAD - Colon adenocarcinoma(227;5.94e-05)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00038)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124) ATGTGCCAGAGGCTCCGGTCC 0.642 NA A||| 665 0.132788 0.093 0.1052 5008 , , NA 17700 0.2054 NA 0.1153 False NA ,,, NA NA NA 2504 0.1493 NA NA NA NA 0 A LYS/ARG 417,3989 780.7+/-414.4 17,383,1803 43 41 41 587 2.4 0.7 1 dbSNP_121 41 815,7785 777.6+/-407.7 37,741,3522 yes missense DFFB NM_004402.2 26 54,1124,5325 AA,AG,GG 9.4767,9.4644,9.4726 benign 196/339 3786245 1232,11774 2203 4300 6503 SO:0001583 missense CCDS52.1, CCDS72693.1 1p36.3 2014-03-06 2002-08-29 ENSG00000169598 ENSG00000169598 1677 2773 protein-coding gene gene with protein product 601883 NA 9108473, 9560346 Standard NM_001282669 NM_004402 NA Approved CAD, CPAN, DFF-40, DFF40 uc001alc.3 O76075 OTTHUMG00000003525 ENST00000378209.3:c.587G>A chr1.hg19:g.3786245G>A ENSP00000367454:p.Arg196Lys NA O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6 hg19 CCDS52.1 0.02 6.425442 AGAxGCT COVERED 310 0.14194139194139194 48 0.0975609756097561 36 0.09944751381215469 127 0.22202797202797203 99 0.13060686015831136 A 0.168 -1.074362 0.01903 0.094644 0.094767 ENSG00000169598 ENST00000378209;ENST00000338895;ENST00000339350;ENST00000378206 T;T 0.26373 1.74;1.74 4.71 2.38 0.29361 Apoptosis, DNA fragmentation factor 40kDa (1); 0.205061 0.48767 N 0.000164 T 0.00012 0.0000 N 0.00771 -1.2 0.09310 P 0.99999999395833 B;B;B 0.02656 0.0;0.0;0.0 B;B;B 0.01281 0.0;0.0;0.0 T 0.42599 -0.9442 9 0.02654 T 1 -26.2927 8.1799 0.31305 0.7545:0.0:0.2455:0.0 rs12738235;rs60375616;rs12738235 220;132;196 B4DZS0;Q5SR21;O76075 .;.;DFFB_HUMAN K 196;196;132;132 ENSP00000367454:R196K;ENSP00000339524:R196K ENSP00000339524:R196K R + 2 0 DFFB 3776105 1.000000 0.71417 0.709000 0.30452 0.112000 0.19704 2.192000 0.42649 -0.079000 0.12707 -0.456000 0.05471 AGG NOVEL DFFB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000009821.2 0 10.232921 KEEP 0 0 0 34 1205 GG 0.999998 0.999998 0 + 6 60 214 0 0 13.094037 158 60 5870 253 ENST00000378209.3 0.036585 1 DFFB 1677 __UNKNOWN__ __UNKNOWN__ 1 3786410 3786410 __UNKNOWN__ Intron SNP G G A rs10909811 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:3786410G>A ENST00000378209.3 + 5 1004 DFFB_ENST00000338895.3_Intron NM_004402.2 NP_004393.1 O76075 DFFB_HUMAN DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase) NA NA apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921) cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899) endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227) all_cancers(23;2.05e-30)|all_epithelial(116;6.22e-21)|all_lung(118;2.65e-08)|Lung NSC(185;6.25e-06)|Breast(487;0.000659)|Renal(390;0.00121)|all_neural(13;0.0019)|Hepatocellular(190;0.00705)|Colorectal(325;0.0113)|all_hematologic(16;0.0194)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0548)|Medulloblastoma(700;0.211) Epithelial(90;1.18e-39)|OV - Ovarian serous cystadenocarcinoma(86;7.28e-23)|GBM - Glioblastoma multiforme(42;2.95e-17)|Colorectal(212;1.23e-05)|COAD - Colon adenocarcinoma(227;5.94e-05)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00038)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124) GGGGCGAGGCGGGTGGGGACC 0.662 NA G||| 657 0.13119 0.093 0.1052 5008 , , NA 17365 0.2073 NA 0.1163 False NA ,,, NA NA NA 2504 0.138 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS52.1, CCDS72693.1 1p36.3 2014-03-06 2002-08-29 ENSG00000169598 ENSG00000169598 1677 2773 protein-coding gene gene with protein product 601883 NA 9108473, 9560346 Standard NM_001282669 NM_004402 NA Approved CAD, CPAN, DFF-40, DFF40 uc001alc.3 O76075 OTTHUMG00000003525 ENST00000378209.3:c.681+71G>A chr1.hg19:g.3786410G>A NA O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6 hg19 CCDS52.1 0.02 1.915738 GGCxGGT COVERED NOVEL DFFB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000009821.2 0 4.213007 KEEP 0 0 0 14 469 GG 0.995343 0.995112 0 + 4 60 148 0 0 9.64424 84 60 3030 117 ENST00000378209.3 0.045455 0.999768 C1orf174 339448 __UNKNOWN__ __UNKNOWN__ 1 3806643 3806643 __UNKNOWN__ Intron SNP T T A rs4520357 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:3806643T>A ENST00000361605.3 - 4 717 C1orf174_ENST00000486765.1_Intron NM_207356.2 NP_997239.2 Q8IYL3 CA174_HUMAN chromosome 1 open reading frame 174 NA NA nucleus (GO:0005634) endometrium(1)|large_intestine(5)|lung(4)|prostate(1) 11 all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227) all_cancers(23;5.09e-25)|all_epithelial(116;9.35e-17)|all_lung(118;1.09e-06)|Lung NSC(185;0.000139)|all_neural(13;0.00287)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0219)|all_hematologic(16;0.027)|Colorectal(325;0.0276)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127) Epithelial(90;1.55e-39)|OV - Ovarian serous cystadenocarcinoma(86;5.99e-23)|GBM - Glioblastoma multiforme(42;2.22e-17)|Colorectal(212;1.08e-05)|COAD - Colon adenocarcinoma(227;5.49e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000365)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.19) AGGTCCTTAGTGGAGAAGAAA 0.498 NA A||| 2111 0.421526 0.5696 0.3602 5008 , , NA 19699 0.4335 NA 0.3241 False NA ,,, NA NA NA 2504 0.3528 NA NA NA NA 0 A 2259,2147 580.7+/-385.2 593,1073,537 113 94 101 -4.7 0 1 dbSNP_111 101 2676,5924 684.0+/-403.9 427,1822,2051 no intron C1orf174 NM_207356.2 1020,2895,2588 AA,AT,TT 31.1163,48.729,37.944 3806643 4935,8071 2203 4300 6503 SO:0001627 intron_variant BC035643 CCDS53.1 1p36.32 2012-07-25 ENSG00000198912 ENSG00000198912 339448 27915 protein-coding gene gene with protein product NA 12477932 Standard NM_207356 NM_207356 NA Approved RP13-531C17.2 uc001alf.3 Q8IYL3 OTTHUMG00000003739 ENST00000361605.3:c.619-6A>T chr1.hg19:g.3806643T>A NA A8K0C8|A8MUG9|Q5SR20|Q6NX36 hg19 CCDS53.1 0.02 12.44475 TAGxGGA COVERED NOVEL C1orf174-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000010539.1 1 12.337748 KEEP 0 0 0 41 1308 TT 1 1 0 - 10 60 364 0 0 22.053835 296 60 10790 403 ENST00000361605.3 0.03268 1 C1orf174 339448 __UNKNOWN__ __UNKNOWN__ 1 3807122 3807122 __UNKNOWN__ Intron SNP G G A rs7513321 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:3807122G>A ENST00000361605.3 - 3 717 C1orf174_ENST00000486765.1_Intron NM_207356.2 NP_997239.2 Q8IYL3 CA174_HUMAN chromosome 1 open reading frame 174 NA NA nucleus (GO:0005634) endometrium(1)|large_intestine(5)|lung(4)|prostate(1) 11 all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227) all_cancers(23;5.09e-25)|all_epithelial(116;9.35e-17)|all_lung(118;1.09e-06)|Lung NSC(185;0.000139)|all_neural(13;0.00287)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0219)|all_hematologic(16;0.027)|Colorectal(325;0.0276)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127) Epithelial(90;1.55e-39)|OV - Ovarian serous cystadenocarcinoma(86;5.99e-23)|GBM - Glioblastoma multiforme(42;2.22e-17)|Colorectal(212;1.08e-05)|COAD - Colon adenocarcinoma(227;5.49e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000365)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.19) GGAGGAAGGCGCCGCTCTTAC 0.527 NA G||| 885 0.176717 0.3139 0.1268 5008 , , NA 18879 0.0615 NA 0.1958 False NA ,,, NA NA NA 2504 0.1258 NA NA NA NA 0 G 1270,3136 434.3+/-343.9 190,890,1123 62 60 60 -1.3 0 1 dbSNP_116 60 1541,7059 289.0+/-299.1 144,1253,2903 no intron C1orf174 NM_207356.2 334,2143,4026 AA,AG,GG 17.9186,28.8243,21.6131 3807122 2811,10195 2203 4300 6503 SO:0001627 intron_variant BC035643 CCDS53.1 1p36.32 2012-07-25 ENSG00000198912 ENSG00000198912 339448 27915 protein-coding gene gene with protein product NA 12477932 Standard NM_207356 NM_207356 NA Approved RP13-531C17.2 uc001alf.3 Q8IYL3 OTTHUMG00000003739 ENST00000361605.3:c.618+10C>T chr1.hg19:g.3807122G>A NA A8K0C8|A8MUG9|Q5SR20|Q6NX36 hg19 CCDS53.1 0.02 4.385681 GGCxCCG COVERED NOVEL C1orf174-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000010539.1 3 11.736847 KEEP 0 0 0 39 1317 GG 1 0.999995 0 - 5 60 183 0 0 11.799501 108 60 3554 185 ENST00000361605.3 0.044248 0.999995 TAS1R1 80835 __UNKNOWN__ __UNKNOWN__ 1 6635306 6635306 __UNKNOWN__ Missense_Mutation SNP G G A rs34160967 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:6635306G>A ENST00000333172.6 + 3 1307 c.1114G>A c.(1114-1116)Gca>Aca p.A372T TAS1R1_ENST00000351136.3_Intron|TAS1R1_ENST00000328191.4_Missense_Mutation_p.A372T NM_138697.3 NP_619642.2 Q7RTX1 TS1R1_HUMAN taste receptor, type 1, member 1 372 NA A -> T (in dbSNP:rs34160967). detection of chemical stimulus involved in sensory perception of taste (GO:0050912)|sensory perception of umami taste (GO:0050917) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527) NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2) 29 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642) AGCTTTCATGGCACACACGAT 0.592 NA G||| 678 0.135383 0.0582 0.0648 5008 , , NA 20875 0.3204 NA 0.1223 False NA ,,, NA NA NA 2504 0.1125 NA NA NA NA 0 G THR/ALA, 304,4102 154.8+/-188.1 17,270,1916 65 53 57 1114, -0.6 0 1 dbSNP_126 57 1080,7520 217.7+/-256.3 69,942,3289 yes missense,intron TAS1R1 NM_138697.3,NM_177540.2 58, 86,1212,5205 AA,AG,GG 12.5581,6.8997,10.6412 benign, 372/842, 6635306 1384,11622 2203 4300 6503 SO:0001583 missense CCDS81.1, CCDS82.1 1p36.23 2012-08-22 2003-03-24 ENSG00000173662 ENSG00000173662 80835 Taste receptors / Type 1, GPCR / Unclassified : Taste receptors 14448 protein-coding gene gene with protein product 606225 G protein-coupled receptor 70 GPR70 NA Standard NM_138697 NA Approved T1R1, TR1 uc001ant.3 Q7RTX1 OTTHUMG00000001441 ENST00000333172.6:c.1114G>A chr1.hg19:g.6635306G>A ENSP00000331867:p.Ala372Thr NA B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0 hg19 CCDS81.1 0.02 10.46287 ATGxCAC COVERED 334|334 0.15293040293040294|0.15293040293040294 23|23 0.046747967479674794|0.046747967479674794 26|26 0.0718232044198895|0.0718232044198895 197|197 0.34440559440559443|0.34440559440559443 88|88 0.11609498680738786|0.11609498680738786 G|G 1.258|1.258 -0.616607|-0.616607 0.03663|0.03663 0.068997|0.068997 0.125581|0.125581 ENSG00000173662|ENSG00000173662 ENST00000333172;ENST00000328191|ENST00000411823 D;D|. 0.91237|. -2.43;-2.81|. 5.24|5.24 -0.638|-0.638 0.11500|0.11500 Extracellular ligand-binding receptor (1);|. 1.364240|. 0.04390|. N|. 0.362231|. T|. 0.00012|. 0.0000|. L|L 0.33753|0.33753 1.03|1.03 0.80722|0.80722 P|P 0.0|0.0 B;B|. 0.32467|. 0.372;0.158|. B;B|. 0.28784|. 0.076;0.094|. T|. 0.43114|. -0.9411|. 9|. 0.09338|. T|. 0.73|. .|. 4.9085|4.9085 0.13811|0.13811 0.3505:0.3088:0.3407:0.0|0.3505:0.3088:0.3407:0.0 rs34160967;rs57648522|rs34160967;rs57648522 372;372|. Q7RTX1-3;Q7RTX1|. .;TS1R1_HUMAN|. T|X 372|297 ENSP00000331867:A372T;ENSP00000327705:A372T|. ENSP00000327705:A372T|. A|W +|+ 1|3 0|0 TAS1R1|TAS1R1 6557893|6557893 0.000000|0.000000 0.05858|0.05858 0.000000|0.000000 0.03702|0.03702 0.010000|0.010000 0.07245|0.07245 -0.147000|-0.147000 0.10234|0.10234 0.160000|0.160000 0.19432|0.19432 -0.218000|-0.218000 0.12543|0.12543 GCA|TGG NOVEL TAS1R1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000004211.1 2 16.855403 KEEP 0 0 0 56 2010 GG 1 1 0 + 15 60 551 0 0 36.542162 279 60 10184 429 ENST00000333172.6 0.05102 1 CAMTA1 23261 __UNKNOWN__ __UNKNOWN__ 1 6947973 6947973 __UNKNOWN__ Intron SNP C C T rs3827726 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:6947973C>T ENST00000303635.7 + 3 441 CAMTA1_ENST00000476163.1_3'UTR|CAMTA1_ENST00000439411.2_Intron NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) DNA binding (GO:0003677) breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) GGAGTTATTACGAAGGAGCTC 0.478 NA T WWTR1 epitheliod hemangioendothelioma C||| 1076 0.214856 0.2383 0.1182 5008 , , NA 21551 0.2946 NA 0.1859 False NA ,,, NA NA NA 2504 0.1994 NA NA NA Dom yes 1 1p36.31-p36.23 611501 calmodulin binding transcription activator 1 M 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB020640 CCDS30576.1, CCDS55574.1, CCDS55575.1 1p36.31-p36.23 2008-07-18 ENSG00000171735 ENSG00000171735 23261 18806 protein-coding gene gene with protein product 611501 NA 11925432 Standard NM_015215 NM_001195563 NA Approved KIAA0833 uc001aoi.3 Q9Y6Y1 OTTHUMG00000001212 ENST00000303635.7:c.234+62703C>T chr1.hg19:g.6947973C>T NA A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92 hg19 CCDS30576.1 0.02 1.883025 TTAxGAA COVERED NOVEL CAMTA1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000003588.3 2 2.708003 KEEP 0 0 0 9 285 CC 0.99254 0.988801 0 + 4 60 138 0 0 9.079166 65 60 2118 79 ENST00000303635.7 0.057971 0.996233 CAMTA1 23261 __UNKNOWN__ __UNKNOWN__ 1 7289777 7289777 __UNKNOWN__ Intron SNP G G A rs4243824 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:7289777G>A ENST00000303635.7 + 5 509 CAMTA1_ENST00000439411.2_Intron NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) DNA binding (GO:0003677) breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) CACAGAGGGCGGGGGTTGGGC 0.532 NA T WWTR1 epitheliod hemangioendothelioma A||| 3460 0.690895 0.8684 0.6037 5008 , , NA 9140 0.6438 NA 0.5885 False NA ,,, NA NA NA 2504 0.6667 NA NA NA Dom yes 1 1p36.31-p36.23 611501 calmodulin binding transcription activator 1 M 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB020640 CCDS30576.1, CCDS55574.1, CCDS55575.1 1p36.31-p36.23 2008-07-18 ENSG00000171735 ENSG00000171735 23261 18806 protein-coding gene gene with protein product 611501 NA 11925432 Standard NM_015215 NM_001195563 NA Approved KIAA0833 uc001aoi.3 Q9Y6Y1 OTTHUMG00000001212 ENST00000303635.7:c.303-19774G>A chr1.hg19:g.7289777G>A NA A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92 hg19 CCDS30576.1 0.02 2.305103 GGCxGGG COVERED NOVEL CAMTA1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000003588.3 3 5.116443 KEEP 0 0 0 17 599 GG 0.999366 0.976246 0 + 4 60 142 0 0 9.885331 51 60 1847 99 ENST00000303635.7 0.072727 0.976865 CAMTA1 23261 __UNKNOWN__ __UNKNOWN__ 1 7827441 7827441 __UNKNOWN__ 3'UTR SNP T T A rs35705966 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:7827441T>A ENST00000303635.7 + 0 6119 NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) DNA binding (GO:0003677) breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) GAAGCTGTAGTAATTCTAAGG 0.383 NA T WWTR1 epitheliod hemangioendothelioma T||| 935 0.186701 0.1051 0.1484 5008 , , NA 17304 0.2202 NA 0.1928 False NA ,,, NA NA NA 2504 0.2832 NA NA NA Dom yes 1 1p36.31-p36.23 611501 calmodulin binding transcription activator 1 M 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB020640 CCDS30576.1, CCDS55574.1, CCDS55575.1 1p36.31-p36.23 2008-07-18 ENSG00000171735 ENSG00000171735 23261 18806 protein-coding gene gene with protein product 611501 NA 11925432 Standard NM_015215 NM_001195563 NA Approved KIAA0833 uc001aoi.3 Q9Y6Y1 OTTHUMG00000001212 ENST00000303635.7:c.*890T>A chr1.hg19:g.7827441T>A NA A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92 hg19 CCDS30576.1 0.02 8.395795 TAGxAAT COVERED NOVEL CAMTA1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000003588.3 5 9.927492 KEEP 0 0 0 33 1000 TT 0.999998 0.999998 0 + 8 60 295 0 0 18.350493 215 60 7607 289 ENST00000303635.7 0.035874 1 PER3 8863 __UNKNOWN__ __UNKNOWN__ 1 7848240 7848240 __UNKNOWN__ Missense_Mutation SNP A A G rs547035195 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:7848240A>G ENST00000377532.3 + 4 750 c.526A>G c.(526-528)Atg>Gtg p.M176V PER3_ENST00000377541.1_Missense_Mutation_p.M176V|PER3_ENST00000361923.2_Missense_Mutation_p.M176V P56645 PER3_HUMAN period circadian clock 3 176 PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}. NA circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) signal transducer activity (GO:0004871) breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 39 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649) ACCTCAAGACATGAGGGTATT 0.473 NA G||| 1 0.000199681 0.0 0.0 5008 , , NA 18983 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 140 130 133 NA NA 1 NA 7848240 2203 4300 6503 SO:0001583 missense BC026102 CCDS89.1, CCDS72695.1 1p36.23 2012-12-13 2012-12-13 ENSG00000049246 ENSG00000049246 8863 8847 protein-coding gene gene with protein product 603427 period (Drosophila) homolog 3, period homolog 3 (Drosophila) NA 9427249 Standard NM_016831 XM_005263520 NA Approved uc001aoo.3 P56645 OTTHUMG00000001216 ENST00000377532.3:c.526A>G chr1.hg19:g.7848240A>G ENSP00000366755:p.Met176Val NA Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8 hg19 0.02 10.944491 GACxTGA COVERED . . . . . . . . . . G 1.567 -0.535144 0.04082 . . ENSG00000049246 ENST00000377541;ENST00000377532;ENST00000361923 T;T;T 0.25085 1.82;3.51;3.51 5.25 3.39 0.38822 PAS (1); 0.140281 0.47093 N 0.000258 T 0.04588 0.0125 N 0.00140 -2.01 0.09310 N 1 B;B;B;B 0.02656 0.0;0.0;0.0;0.0 B;B;B;B 0.01281 0.0;0.0;0.0;0.0 T 0.42189 -0.9466 10 0.02654 T 1 . 9.6131 0.39674 0.2253:0.0:0.7747:0.0 . 176;176;176;176 A2I2N5;A6H8X0;P56645-2;P56645 .;.;.;PER3_HUMAN V 176 ENSP00000366764:M176V;ENSP00000366755:M176V;ENSP00000355031:M176V ENSP00000355031:M176V M + 1 0 PER3 7770827 1.000000 0.71417 0.984000 0.44739 0.631000 0.37964 3.100000 0.50275 0.246000 0.21394 -0.128000 0.14901 ATG NOVEL PER3-001 NOVEL basic|appris_candidate_longest|exp_conf protein_coding NA protein_coding OTTHUMT00000003606.1 2 20.762204 KEEP 0 0 0 69 2167 AA 1 1 0 + 14 60 512 0 0 33.907889 259 60 9507 417 ENST00000377532.3 0.051282 1 PER3 8863 __UNKNOWN__ __UNKNOWN__ 1 7889841 7889841 __UNKNOWN__ Intron SNP G G C rs75000054 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:7889841G>C ENST00000377532.3 + 18 3110 PER3_ENST00000361923.2_Intron P56645 PER3_HUMAN period circadian clock 3 NA NA circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) signal transducer activity (GO:0004871) breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 39 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649) gaggactactgTATTTTGTGA 0.383 NA G||| 20 0.00399361 0.0 0.0 5008 , , NA 22648 0.0188 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC026102 CCDS89.1, CCDS72695.1 1p36.23 2012-12-13 2012-12-13 ENSG00000049246 ENSG00000049246 8863 8847 protein-coding gene gene with protein product 603427 period (Drosophila) homolog 3, period homolog 3 (Drosophila) NA 9427249 Standard NM_016831 XM_005263520 NA Approved uc001aoo.3 P56645 OTTHUMG00000001216 ENST00000377532.3:c.2887-53G>C chr1.hg19:g.7889841G>C NA Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8 hg19 0.02 8.475895 ACTxTAT COVERED NOVEL PER3-001 NOVEL basic|appris_candidate_longest|exp_conf protein_coding NA protein_coding OTTHUMT00000003606.1 5 8.72826 KEEP 0 0 0 29 1024 GG 0.999997 0.999997 0 + 8 60 301 0 0 18.574708 240 60 9062 313 ENST00000377532.3 0.032258 1 PER3 8863 __UNKNOWN__ __UNKNOWN__ 1 7890064 7890064 __UNKNOWN__ Silent SNP A A G rs12023156 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:7890064A>G ENST00000377532.3 + 18 3281 c.3057A>G c.(3055-3057)acA>acG p.T1019T PER3_ENST00000361923.2_Silent_p.T1010T P56645 PER3_HUMAN period circadian clock 3 1010 5 X 18 AA tandem repeats of S-[HP]-[AP]- T-[AT]-[GST]-[ATV]-L-S-[MT]-G-[LS]-P-P- [MRS]-[EKR]-[NST]-P.|Ser-rich. NA circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) signal transducer activity (GO:0004871) breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 39 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649) CTCTGTCCACAGGATCGCCTC 0.577 NA G||| 1226 0.244808 0.2421 0.2118 5008 , , NA 10880 0.1478 NA 0.2863 False NA ,,, NA NA NA 2504 0.3292 NA NA NA NA 0 93 74 80 NA NA 1 NA 7890064 2203 4297 6500 SO:0001819 synonymous_variant BC026102 CCDS89.1, CCDS72695.1 1p36.23 2012-12-13 2012-12-13 ENSG00000049246 ENSG00000049246 8863 8847 protein-coding gene gene with protein product 603427 period (Drosophila) homolog 3, period homolog 3 (Drosophila) NA 9427249 Standard NM_016831 XM_005263520 NA Approved uc001aoo.3 P56645 OTTHUMG00000001216 ENST00000377532.3:c.3057A>G chr1.hg19:g.7890064A>G NA Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8 hg19 0.02 17.801613 CACxGGA COVERED 599 0.2742673992673993 129 0.2621951219512195 101 0.27900552486187846 118 0.2062937062937063 251 0.3311345646437995 G 1.865 -0.461664 0.04508 . . ENSG00000049246 ENST00000539773 . . . 0.119 0.119 0.14685 . . . . . . . . . . . 0.80722 P 0.0 . . . . . . . . . . . . . . . . . rs12023156 . . . . -1 . . . + . . PER3 7812651 0.005000 0.15991 0.054000 0.19295 0.063000 0.16089 0.651000 0.24873 0.235000 0.21160 0.232000 0.17820 . NOVEL PER3-001 NOVEL basic|appris_candidate_longest|exp_conf protein_coding NA protein_coding OTTHUMT00000003606.1 4 6.925033 KEEP 6 3 103 59 1864 AA 1 1 0 + 29 60 1011 0 0 69.46068 381 60 14072 526 ENST00000377532.3 0.070732 1 UTS2 10911 __UNKNOWN__ __UNKNOWN__ 1 7906914 7906914 __UNKNOWN__ Intron SNP T T C rs10864317 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:7906914T>C ENST00000377516.2 - 6 658 O95399 UTS2_HUMAN urotensin 2 NA NA muscle contraction (GO:0006936)|negative regulation of blood pressure (GO:0045776)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of heart rate (GO:0010459)|negative regulation of insulin secretion (GO:0046676)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of urine volume (GO:0035811)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood pressure (GO:0045777)|positive regulation of cell differentiation (GO:0045597)|positive regulation of circadian sleep/wake cycle, REM sleep (GO:0046005)|positive regulation of circadian sleep/wake cycle, wakefulness (GO:0010841)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of heart rate (GO:0010460)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of vasodilation (GO:0045909)|regulation of blood pressure (GO:0008217)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to testosterone (GO:0033574)|synaptic transmission (GO:0007268) extracellular region (GO:0005576)|extracellular space (GO:0005615) hormone activity (GO:0005179)|receptor binding (GO:0005102) kidney(1)|lung(4)|urinary_tract(1) 6 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;1.38e-20)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.26e-71)|GBM - Glioblastoma multiforme(8;5.15e-36)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000386)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|STAD - Stomach adenocarcinoma(132;0.000951)|READ - Rectum adenocarcinoma(331;0.0642) GTTTCAATGTTAAAAGATTAA 0.423 NA T||| 927 0.185104 0.1626 0.1455 5008 , , NA 14518 0.1379 NA 0.1948 False NA ,,, NA NA NA 2504 0.2822 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF104118 CCDS90.1, CCDS91.1 1p36 2013-02-28 ENSG00000049247 ENSG00000049247 10911 Endogenous ligands 12636 protein-coding gene gene with protein product prepro U-II 604097 NA 9861051, 10499587 Standard NM_006786 NM_021995 NA Approved UII, U-II, UCN2, PRO1068 uc001aos.3 O95399 OTTHUMG00000001218 ENST00000377516.2:c.338-88A>G chr1.hg19:g.7906914T>C NA Q5H8X7|Q6UXF6|Q9UKP7 hg19 0.02 9.407997 TGTxAAA COVERED NOVEL UTS2-001 PUTATIVE basic protein_coding NA protein_coding OTTHUMT00000003611.1 0 6.753159 KEEP 0 1 27 32 996 TT 0.999998 0.999998 0 - 10 60 379 0 0 25.216802 200 70 7176 260 ENST00000377516.2 0.047619 1 SLC45A1 50651 __UNKNOWN__ __UNKNOWN__ 1 8397803 8397803 __UNKNOWN__ Intron SNP C C T rs7520373 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:8397803C>T ENST00000471889.1 + 7 1982 SLC45A1_ENST00000377479.2_Intron|SLC45A1_ENST00000289877.8_Intron Q9Y2W3 S45A1_HUMAN solute carrier family 45, member 1 NA NA carbohydrate transport (GO:0008643) integral component of membrane (GO:0016021) symporter activity (GO:0015293) central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2) 33 Ovarian(185;0.0661)|all_lung(157;0.127) all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) AACCAGTAGACGCATGTTGGT 0.547 NA c||| 1571 0.313698 0.1573 0.3746 5008 , , NA 19263 0.6438 NA 0.2177 False NA ,,, NA NA NA 2504 0.2403 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF118274 CCDS30577.1 1p36.23 2014-01-28 2005-10-04 2005-10-04 ENSG00000162426 ENSG00000162426 50651 Solute carriers 17939 protein-coding gene gene with protein product H+/sugar symporter 605763 deleted in neuroblastoma 5 DNB5 NA 10729226 Standard XM_005263467 NA Approved uc001apb.3 Q9Y2W3 OTTHUMG00000000503 ENST00000471889.1:c.1598-73C>T chr1.hg19:g.8397803C>T NA Q5VY46|Q5VY49 hg19 CCDS30577.1 0.02 4.370454 AGAxGCA COVERED NOVEL SLC45A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000001245.5 0 6.855858 KEEP 0 1 32 34 1165 CC 0.999999 0.999998 0 + 6 60 221 0 0 14.49203 120 60 4369 180 ENST00000471889.1 0.047619 1 CA6 765 __UNKNOWN__ __UNKNOWN__ 1 9034483 9034483 __UNKNOWN__ Silent SNP C C T rs74050967 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:9034483C>T ENST00000377436.3 + 8 922 c.922C>T c.(922-924)Ctg>Ttg p.L308L CA6_ENST00000377443.2_Intron|CA6_ENST00000476083.1_Intron|CA6_ENST00000377442.2_Intron NM_001270500.1 NP_001257429.1 P23280 CAH6_HUMAN carbonic anhydrase VI 0 NA bicarbonate transport (GO:0015701)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270) endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5) 16 Ovarian(185;0.112)|all_lung(157;0.143) all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649) Mafenide(DB06795)|Zonisamide(DB00909) CCCCTTGGCTCTGGGCAGCTT 0.532 NA C||| 152 0.0303514 0.0129 0.0101 5008 , , NA 17877 0.0198 NA 0.0089 False NA ,,, NA NA NA 2504 0.1012 NA NA NA NA 0 C 26,1720 0,26,847 8 7 8 1.9 0 1 dbSNP_130 8 58,3910 0,58,1926 no intron CA6 NM_001215.2 0,84,2773 TT,TC,CC 1.4617,1.4891,1.4701 9034483 84,5630 873 1984 2857 SO:0001819 synonymous_variant M57892 CCDS30578.1, CCDS57970.1, CCDS57971.1 1p36.2 2008-02-05 ENSG00000131686 ENSG00000131686 765 4.2.1.1 Carbonic anhydrases 1380 protein-coding gene gene with protein product 114780 NA 9691177 Standard NM_001215 NA Approved uc031plc.1 P23280 OTTHUMG00000001763 ENST00000377436.3:c.922C>T chr1.hg19:g.9034483C>T NA E7EMQ1|Q5FBW3|Q5FC00|Q96QX8|Q9UF03 hg19 CCDS57970.1 0.02 23.582851 GCTxTGG COVERED NOVEL CA6-005 PUTATIVE basic|appris_candidate_longest|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000407379.1 1 22.272676 KEEP 0 0 0 74 2674 CC 1 1 0 + 20 60 719 0 0 43.540996 570 60 22052 837 ENST00000377436.3 0.033898 1 CA6 765 __UNKNOWN__ __UNKNOWN__ 1 9035013 9035013 __UNKNOWN__ 3'UTR SNP T T C rs3737663 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:9035013T>C ENST00000377443.2 + 0 1181 NM_001215.3 NP_001206.2 P23280 CAH6_HUMAN carbonic anhydrase VI NA NA bicarbonate transport (GO:0015701)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270) endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5) 16 Ovarian(185;0.112)|all_lung(157;0.143) all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649) Mafenide(DB06795)|Zonisamide(DB00909) TTGATTGGAATAGAAACTTAA 0.398 NA T||| 278 0.0555112 0.1195 0.0115 5008 , , NA 15368 0.0327 NA 0.001 False NA ,,, NA NA NA 2504 0.0798 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M57892 CCDS30578.1, CCDS57970.1, CCDS57971.1 1p36.2 2008-02-05 ENSG00000131686 ENSG00000131686 765 4.2.1.1 Carbonic anhydrases 1380 protein-coding gene gene with protein product 114780 NA 9691177 Standard NM_001215 NA Approved uc031plc.1 P23280 OTTHUMG00000001763 ENST00000377443.2:c.*250T>C chr1.hg19:g.9035013T>C NA E7EMQ1|Q5FBW3|Q5FC00|Q96QX8|Q9UF03 hg19 CCDS30578.1 0.02 7.838737 GAAxAGA COVERED NOVEL CA6-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000004911.1 0 8.725495 KEEP 0 0 0 29 887 TT 0.999997 0.999997 0 + 8 60 296 0 0 18.175952 233 60 8487 310 ENST00000377443.2 0.033195 1 CA6 765 __UNKNOWN__ __UNKNOWN__ 1 9035059 9035059 __UNKNOWN__ 3'UTR SNP A A C rs12071042 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:9035059A>C ENST00000377443.2 + 0 1227 NM_001215.3 NP_001206.2 P23280 CAH6_HUMAN carbonic anhydrase VI NA NA bicarbonate transport (GO:0015701)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270) endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5) 16 Ovarian(185;0.112)|all_lung(157;0.143) all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649) Mafenide(DB06795)|Zonisamide(DB00909) CCATCAAATCATATATGTTGA 0.333 NA A||| 197 0.0393371 0.0719 0.0086 5008 , , NA 15652 0.0228 NA 0.001 False NA ,,, NA NA NA 2504 0.0736 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M57892 CCDS30578.1, CCDS57970.1, CCDS57971.1 1p36.2 2008-02-05 ENSG00000131686 ENSG00000131686 765 4.2.1.1 Carbonic anhydrases 1380 protein-coding gene gene with protein product 114780 NA 9691177 Standard NM_001215 NA Approved uc031plc.1 P23280 OTTHUMG00000001763 ENST00000377443.2:c.*296A>C chr1.hg19:g.9035059A>C NA E7EMQ1|Q5FBW3|Q5FC00|Q96QX8|Q9UF03 hg19 CCDS30578.1 0.02 9.726498 ATCxTAT COVERED NOVEL CA6-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000004911.1 2 11.435128 KEEP 0 0 0 38 1210 AA 1 1 0 + 9 60 355 0 0 23.097211 233 60 8714 358 ENST00000377443.2 0.03719 1 SLC2A7 155184 __UNKNOWN__ __UNKNOWN__ 1 9063602 9063602 __UNKNOWN__ Intron SNP G G C rs4908804 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:9063602G>C ENST00000400906.1 - 12 1320 NM_207420.2 NP_997303.2 Q6PXP3 GTR7_HUMAN solute carrier family 2 (facilitated glucose transporter), member 7 NA NA carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) substrate-specific transmembrane transporter activity (GO:0022891) NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2) 24 Ovarian(185;0.112)|all_lung(157;0.185) all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642) GAGAAAGACAGGAGGGGGCAG 0.532 NA G||| 2521 0.503395 0.326 0.4957 5008 , , NA 20365 0.7063 NA 0.4652 False NA ,,, NA NA NA 2504 0.5787 NA NA NA NA 0 G 1525,2881 469.4+/-355.4 273,979,951 36 33 34 4.1 0 1 dbSNP_111 34 3964,4636 534.7+/-382.7 909,2146,1245 no intron SLC2A7 NM_207420.2 1182,3125,2196 CC,CG,GG 46.093,34.6119,42.2036 9063602 5489,7517 2203 4300 6503 SO:0001627 intron_variant AL356306 CCDS98.2 1p36.2 2013-05-22 ENSG00000197241 ENSG00000197241 155184 Solute carriers 13445 protein-coding gene gene with protein product intestinal facilitative glucose transporter 7 610371 NA 11780753 Standard NM_207420 NM_207420 NA Approved GLUT7 uc009vmo.1 Q6PXP3 OTTHUMG00000057499 ENST00000400906.1:c.1321-25C>G chr1.hg19:g.9063602G>C NA A2A333 hg19 CCDS98.2 0.02 6.895746 ACAxGAG COVERED NOVEL SLC2A7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000127768.3 1 5.116126 KEEP 0 0 0 17 570 GG 0.999366 0.999366 0 - 8 60 263 0 0 15.525301 193 60 7011 226 ENST00000400906.1 0.039801 1 SPSB1 80176 __UNKNOWN__ __UNKNOWN__ 1 9416127 9416127 __UNKNOWN__ Silent SNP C C T rs112547723 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:9416127C>T ENST00000328089.6 + 2 518 c.177C>T c.(175-177)aaC>aaT p.N59N SPSB1_ENST00000357898.3_Silent_p.N59N|SPSB1_ENST00000377399.2_Silent_p.N59N NM_025106.3 NP_079382.2 Q96BD6 SPSB1_HUMAN splA/ryanodine receptor domain and SOCS box containing 1 59 B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}. NA intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567) cytoplasm (GO:0005737) breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2) 13 all_lung(157;0.194) all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419) GGAACAACAACGACCGATCGC 0.567 NA C||| 33 0.00658946 0.0068 0.0029 5008 , , NA 20403 0.006 NA 0.0 False NA ,,, NA NA NA 2504 0.0164 NA NA NA NA 0 C 31,4375 36.8+/-68.6 1,29,2173 163 157 159 177 -8.4 0.7 1 dbSNP_132 159 3,8597 3.0+/-9.4 0,3,4297 no coding-synonymous SPSB1 NM_025106.3 1,32,6470 TT,TC,CC 0.0349,0.7036,0.2614 59/274 9416127 34,12972 2203 4300 6503 SO:0001819 synonymous_variant CCDS102.1 1p36.22 2008-02-05 ENSG00000171621 ENSG00000171621 80176 30628 protein-coding gene gene with protein product 611657 NA 15713673, 12076535 Standard NM_025106 NM_025106 NA Approved SSB-1 uc010oae.2 Q96BD6 OTTHUMG00000001279 ENST00000328089.6:c.177C>T chr1.hg19:g.9416127C>T NA A2A275|Q59FA1|Q5TIH9|Q9BRY9|Q9H6C5 hg19 CCDS102.1 0.02 14.871358 CAAxGAC COVERED NOVEL SPSB1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000003727.2 5 40.329317 KEEP 0 0 0 134 4610 CC 1 1 0 + 14 60 472 0 0 28.204892 356 60 12467 625 ENST00000328089.6 0.037838 1 TMEM201 199953 __UNKNOWN__ __UNKNOWN__ 1 9673843 9673843 __UNKNOWN__ 3'UTR SNP C C T rs11121451 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:9673843C>T ENST00000340381.6 + 0 2712 TMEM201_ENST00000377376.4_3'UTR NM_001130924.2 NP_001124396.2 Q5SNT2 TM201_HUMAN transmembrane protein 201 NA NA fibroblast migration (GO:0010761)|nuclear migration (GO:0007097) integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965) lung(3)|upper_aerodigestive_tract(1) 4 all_lung(157;0.222) all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419) CCTGAGAATGCGGAGCGCCCT 0.662 NA C||| 986 0.196885 0.1884 0.1196 5008 , , NA 16325 0.5248 NA 0.0109 False NA ,,, NA NA NA 2504 0.1166 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS30579.1, CCDS44055.1, CCDS44055.2 1p36.22 2009-11-06 ENSG00000188807 ENSG00000188807 199953 33719 protein-coding gene gene with protein product NA Standard NM_001010866 NM_001130924 NA Approved RP13-15M17.2, NET5 uc021ofy.1 Q5SNT2 OTTHUMG00000057457 ENST00000340381.6:c.*702C>T chr1.hg19:g.9673843C>T NA B9EH90|Q5SNT3 hg19 CCDS44055.2 0.02 17.381469 ATGxGGA COVERED NOVEL TMEM201-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000127672.1 1 26.482093 KEEP 0 0 0 88 3017 CC 1 1 0 + 15 60 533 0 0 32.500226 398 60 14274 650 ENST00000340381.6 0.03632 1 PGD 5226 __UNKNOWN__ __UNKNOWN__ 1 10471760 10471760 __UNKNOWN__ Intron SNP C C T rs2236677 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:10471760C>T ENST00000270776.8 + 7 692 PGD_ENST00000538557.1_Intron|PGD_ENST00000541529.1_Intron NM_002631.2 NP_002622.2 P52209 6PGD_HUMAN phosphogluconate dehydrogenase NA NA carbohydrate metabolic process (GO:0005975)|D-gluconate metabolic process (GO:0019521)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) NADP binding (GO:0050661)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616) NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 14 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487) Dacarbazine(DB00851)|Furosemide(DB00695)|Gadopentetate dimeglumine(DB00789)|Ketotifen(DB00920)|Meloxicam(DB00814)|Methotrexate(DB00563)|Ritodrine(DB00867) AGTAATAGGCCTATACACTAT 0.488 NA C||| 150 0.0299521 0.0023 0.0576 5008 , , NA 23180 0.1042 NA 0.0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC000368 CCDS113.1 1p36.22 2012-10-02 ENSG00000142657 ENSG00000142657 5226 1.1.1.43 8891 protein-coding gene gene with protein product 172200 NA Standard NM_002631 NM_002631 NA Approved uc001arc.3 P52209 OTTHUMG00000001905 ENST00000270776.8:c.654+151C>T chr1.hg19:g.10471760C>T NA A8K2Y9|B4DQJ8|Q9BWD8 hg19 CCDS113.1 0.02 6.551287 GGCxTAT COVERED NOVEL PGD-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000005398.1 2 4.814647 KEEP 0 0 0 16 541 CC 0.997832 0.997832 0 + 13 60 472 0 0 33.78869 148 60 5542 179 ENST00000270776.8 0.080745 1 PGD 5226 __UNKNOWN__ __UNKNOWN__ 1 10478857 10478857 __UNKNOWN__ Intron SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:10478857C>T ENST00000270776.8 + 11 1147 PGD_ENST00000498356.1_Intron|PGD_ENST00000538557.1_Intron|PGD_ENST00000541529.1_Intron NM_002631.2 NP_002622.2 P52209 6PGD_HUMAN phosphogluconate dehydrogenase NA NA carbohydrate metabolic process (GO:0005975)|D-gluconate metabolic process (GO:0019521)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) NADP binding (GO:0050661)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616) NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 14 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487) Dacarbazine(DB00851)|Furosemide(DB00695)|Gadopentetate dimeglumine(DB00789)|Ketotifen(DB00920)|Meloxicam(DB00814)|Methotrexate(DB00563)|Ritodrine(DB00867) aGACTCATTGCTTTTTTCCCC 0.458 NA NA NA NA NA NA NA NA NA NA NA 0 56 59 58 NA NA 1 NA 10478857 2203 4300 6503 SO:0001627 intron_variant BC000368 CCDS113.1 1p36.22 2012-10-02 ENSG00000142657 ENSG00000142657 5226 1.1.1.43 8891 protein-coding gene gene with protein product 172200 NA Standard NM_002631 NM_002631 NA Approved uc001arc.3 P52209 OTTHUMG00000001905 ENST00000270776.8:c.1110-26C>T chr1.hg19:g.10478857C>T NA A8K2Y9|B4DQJ8|Q9BWD8 hg19 CCDS113.1 0.02 2.259729 TTGxTTT COVERED NOVEL PGD-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000005398.1 3 4.596226 KEEP 0 1 24 24 719 CC 0.999931 0.999931 0 + 18 60 342 0 0 20.470399 111 60 3189 170 ENST00000270776.8 0.139535 1 CASZ1 54897 __UNKNOWN__ __UNKNOWN__ 1 10707765 10707765 __UNKNOWN__ Intron SNP G G A rs545556239 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:10707765G>A ENST00000377022.3 - 16 3815 RP4-734G22.3_ENST00000606802.1_RNA|CASZ1_ENST00000344008.5_3'UTR NM_001079843.2 NP_001073312.1 Q86V15 CASZ1_HUMAN castor zinc finger 1 NA NA multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1) 54 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) AGCACCATCCGCAGTGAGGAA 0.632 NA G||| 4 0.000798722 0.0023 0.0 5008 , , NA 20202 0.0 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK000328 CCDS120.2, CCDS41246.1 1p36.22 2013-01-07 2007-02-02 ENSG00000130940 ENSG00000130940 54897 Zinc fingers, C2H2-type 26002 protein-coding gene gene with protein product zinc finger protein 693, survival related gene 609895 castor homolog 1, zinc finger (Drosophila) NA 16631614, 21252912 Standard NM_017766 NM_001079843 NA Approved FLJ20321, ZNF693, castor, cst, SRG uc001aro.4 Q86V15 OTTHUMG00000002035 ENST00000377022.3:c.3497+92C>T chr1.hg19:g.10707765G>A NA Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6 hg19 CCDS41246.1 0.02 6.260924 TCCxCAG COVERED NOVEL CASZ1-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000005673.2 1 12.037779 KEEP 0 0 0 40 1367 GG 1 1 0 - 6 60 208 0 0 12.563646 154 60 5313 222 ENST00000377022.3 0.0375 1 PTCHD2 57540 __UNKNOWN__ __UNKNOWN__ 1 11595203 11595203 __UNKNOWN__ Intron SNP A A G rs2235662 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:11595203A>G ENST00000294484.6 + 19 3787 PTCHD2_ENST00000389575.3_Intron|PTCHD2_ENST00000304391.6_Intron NM_020780.1 NP_065831.1 Q9P2K9 PTHD2_HUMAN patched domain containing 2 NA NA cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965) hedgehog receptor activity (GO:0008158) NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) AGGGGCTGGCAGGCACCCTGC 0.657 NA G||| 881 0.175919 0.1407 0.1138 5008 , , NA 18423 0.249 NA 0.16 False NA ,,, NA NA NA 2504 0.2086 NA NA NA NA 0 G 537,3787 30,477,1655 23 28 27 -8.4 0 1 dbSNP_98 27 1083,7433 66,951,3241 no intron PTCHD2 NM_020780.1 96,1428,4896 GG,GA,AA 12.7172,12.4191,12.6168 11595203 1620,11220 2162 4258 6420 SO:0001627 intron_variant AB037758 CCDS41247.1 1p36.22 2010-02-17 ENSG00000204624 ENSG00000204624 57540 29251 protein-coding gene gene with protein product 611251 NA 15738394 Standard XM_052561 NM_020780 NA Approved KIAA1337, DISP3 uc001ash.4 Q9P2K9 OTTHUMG00000002074 ENST00000294484.6:c.3649+22A>G chr1.hg19:g.11595203A>G NA Q5VTU9|Q9UJD6 hg19 CCDS41247.1 0.02 1.859983 GGCxGGC COVERED NOVEL PTCHD2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000005770.2 0 3.008895 KEEP 0 0 0 10 306 AA 0.992708 0.992199 0 + 5 60 182 0 0 12.383265 78 60 2848 107 ENST00000294484.6 0.060241 0.999487 FBXO44 93611 __UNKNOWN__ __UNKNOWN__ 1 11721854 11721854 __UNKNOWN__ 3'UTR SNP C C T rs2294641 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:11721854C>T ENST00000251547.5 + 0 1374 FBXO44_ENST00000251546.4_3'UTR|FBXO44_ENST00000376770.1_3'UTR|FBXO44_ENST00000376762.4_3'UTR NM_033182.5 NP_149438.2 Q9H4M3 FBX44_HUMAN F-box protein 44 NA NA SCF ubiquitin ligase complex (GO:0019005) kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1) 8 Ovarian(185;0.249) Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649) CTCCCAGTCTCTCGCTCTGCC 0.647 NA C||| 2712 0.541534 0.7118 0.5389 5008 , , NA 16768 0.4504 NA 0.4304 False NA ,,, NA NA NA 2504 0.5215 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY040878 CCDS131.1, CCDS132.1 1p36.21 2008-03-26 ENSG00000132879 ENSG00000132879 93611 F-boxes / other 24847 protein-coding gene gene with protein product 609111 NA 12383498 Standard NM_183412 XM_005263535 NA Approved FBX30, FBG3, MGC14140, Fbxo6a, Fbx44 uc001asm.3 Q9H4M3 OTTHUMG00000002071 ENST00000251547.5:c.*524C>T chr1.hg19:g.11721854C>T NA B3KNZ2|B7Z743|Q5TGX2|Q5TGX4|Q5TGX5|Q68DJ9|Q8WWY2 hg19 CCDS132.1 0.02 15.378656 TCTxTCG COVERED NOVEL FBXO44-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000005761.1 3 18.594349 KEEP 0 1 26 71 2560 CC 1 1 0 + 15 60 551 0 0 35.044 353 60 13344 527 ENST00000251547.5 0.040761 1 FBXO44 93611 __UNKNOWN__ __UNKNOWN__ 1 11721949 11721949 __UNKNOWN__ 3'UTR SNP C C T rs2294640 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:11721949C>T ENST00000251547.5 + 0 1469 FBXO44_ENST00000251546.4_3'UTR|FBXO44_ENST00000376770.1_3'UTR|FBXO44_ENST00000376762.4_3'UTR NM_033182.5 NP_149438.2 Q9H4M3 FBX44_HUMAN F-box protein 44 NA NA SCF ubiquitin ligase complex (GO:0019005) kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1) 8 Ovarian(185;0.249) Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649) GGGTCCAGGTCGGGTGTGGAC 0.612 NA C||| 461 0.0920527 0.034 0.0331 5008 , , NA 15971 0.1825 NA 0.0646 False NA ,,, NA NA NA 2504 0.1472 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY040878 CCDS131.1, CCDS132.1 1p36.21 2008-03-26 ENSG00000132879 ENSG00000132879 93611 F-boxes / other 24847 protein-coding gene gene with protein product 609111 NA 12383498 Standard NM_183412 XM_005263535 NA Approved FBX30, FBG3, MGC14140, Fbxo6a, Fbx44 uc001asm.3 Q9H4M3 OTTHUMG00000002071 ENST00000251547.5:c.*619C>T chr1.hg19:g.11721949C>T NA B3KNZ2|B7Z743|Q5TGX2|Q5TGX4|Q5TGX5|Q68DJ9|Q8WWY2 hg19 CCDS132.1 0.02 8.131321 GGTxGGG COVERED NOVEL FBXO44-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000005761.1 0 12.473567 KEEP 0 1 30 52 1735 CC 1 1 0 + 9 60 331 0 0 20.720254 232 60 7652 355 ENST00000251547.5 0.037344 1 DRAXIN 374946 __UNKNOWN__ __UNKNOWN__ 1 11766424 11766424 __UNKNOWN__ Missense_Mutation SNP C C T rs11121804 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:11766424C>T ENST00000294485.5 + 2 244 c.109C>T c.(109-111)Ctc>Ttc p.L37F NM_198545.3 NP_940947.3 dorsal inhibitory axon guidance protein NA NA NA TGCCCGGAACCTCCCTGAGAA 0.706 NA C||| 756 0.150958 0.0772 0.1499 5008 , , NA 14876 0.2817 NA 0.1551 False NA ,,, NA NA NA 2504 0.1125 NA NA NA NA 0 C PHE/LEU 433,3973 193.0+/-218.2 24,385,1794 24 29 27 109 1.8 0 1 dbSNP_120 27 1365,7235 246.0+/-274.6 109,1147,3044 yes missense C1orf187 NM_198545.3 22 133,1532,4838 TT,TC,CC 15.8721,9.8275,13.8244 benign 37/350 11766424 1798,11208 2203 4300 6503 SO:0001583 missense AY358750 CCDS135.1 1p36.22 2012-08-20 2012-08-14 2012-08-14 ENSG00000162490 ENSG00000162490 374946 25054 protein-coding gene gene with protein product dorsal repulsive axon guidance protein, neural tissue-specific cysteine-rich protein 612682 chromosome 1 open reading frame 187 C1orf187 NA 19150847 Standard NM_198545 NM_198545 NA Approved FLJ34999, Draxin, Neucrin uc001asr.1 Q8NBI3 OTTHUMG00000002227 ENST00000294485.5:c.109C>T chr1.hg19:g.11766424C>T ENSP00000294485:p.Leu37Phe NA hg19 CCDS135.1 0.02 3.986303 AACxTCC COVERED 410 0.18772893772893773 44 0.08943089430894309 61 0.1685082872928177 177 0.3094405594405594 128 0.16886543535620052 C 11.61 1.689552 0.29962 0.098275 0.158721 ENSG00000162490 ENST00000294485 T 0.45668 0.89 4.81 1.75 0.24633 . 0.473489 0.17548 N 0.170297 T 0.00012 0.0000 L 0.50919 1.6 0.80722 P 0.0 P 0.36837 0.571 B 0.42692 0.395 T 0.27123 -1.0083 9 0.13108 T 0.6 -6.2842 0.9271 0.01327 0.1743:0.4068:0.1942:0.2248 rs11121804;rs11121804 37 Q8NBI3 DRAXI_HUMAN F 37 ENSP00000294485:L37F ENSP00000294485:L37F L + 1 0 C1orf187 11689011 0.012000 0.17670 0.032000 0.17829 0.708000 0.40852 0.698000 0.25571 1.012000 0.39366 0.407000 0.27541 CTC NOVEL DRAXIN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000006325.1 0 7.524473 KEEP 0 0 0 25 886 CC 0.999931 0.999931 0 + 6 60 211 0 0 13.084692 141 60 5322 190 ENST00000294485.5 0.040816 1 MTHFR 4524 __UNKNOWN__ __UNKNOWN__ 1 11856378 11856378 __UNKNOWN__ Missense_Mutation SNP G G A rs1801133 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:11856378G>A ENST00000376592.1 - 4 793 c.665C>T c.(664-666)gCc>gTc p.A222V MTHFR_ENST00000376585.1_Missense_Mutation_p.A263V|MTHFR_ENST00000376583.3_Missense_Mutation_p.A263V|MTHFR_ENST00000376590.3_Missense_Mutation_p.A222V P42898 MTHR_HUMAN methylenetetrahydrofolate reductase (NAD(P)H) 222 NA A -> V (common polymorphism; thermolabile; 50% reduced activity; at homozygosity reduces the risk for colorectal cancer in individuals with adequate folate status; decreased risk for adult acute leukemia; increased risk for FS-NTD; dbSNP:rs1801133). {ECO:0000269|PubMed:10536004, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:7647779, ECO:0000269|PubMed:9545406, ECO:0000269|Ref.5}. blood circulation (GO:0008015)|cellular amino acid metabolic process (GO:0006520)|folic acid metabolic process (GO:0046655)|homocysteine metabolic process (GO:0050667)|methionine biosynthetic process (GO:0009086)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to vitamin B2 (GO:0033274)|S-adenosylmethionine metabolic process (GO:0046500)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767) cytosol (GO:0005829)|neuron projection (GO:0043005) flavin adenine dinucleotide binding (GO:0050660)|methylenetetrahydrofolate reductase (NAD(P)H) activity (GO:0004489)|modified amino acid binding (GO:0072341)|NADP binding (GO:0050661) p.A222V(1) NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) Benazepril(DB00542)|Cyanocobalamin(DB00115)|Fluorouracil(DB00544)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Riboflavin(DB00140)|Tetrahydrofolic acid(DB00116) GATGAAATCGGCTCCCGCAGA 0.557 NA G||| 1229 0.245407 0.09 0.4741 5008 , , NA 21284 0.2956 NA 0.3648 False NA ,,, NA NA NA 2504 0.1186 NA NA NA NA 1 Substitution - Missense(1) stomach(1) GRCh37 CM950819 MTHFR M rs1801133 G VAL/ALA 536,3870 242.1+/-252.3 31,474,1698 237 215 223 http://www.ncbi.nlm.nih.gov/sites/varvu?gene 665 5.1 1 1 dbSNP_89 223 2983,5617 461.7+/-365.5 519,1945,1836 yes missense MTHFR NM_005957.4 64 550,2419,3534 AA,AG,GG http://www.ncbi.nlm.nih.gov/pubmed?term 34.686,12.1652,27.0567 possibly-damaging 222/657 11856378 3519,9487 2203 4300 6503 SO:0001583 missense BC053509 CCDS137.1 1p36.3 2014-09-17 2010-05-04 ENSG00000177000 ENSG00000177000 4524 1.5.1.20 7436 protein-coding gene gene with protein product 607093 5,10-methylenetetrahydrofolate reductase (NADPH) NA 7920641 Standard NM_005957 NM_005957 NA Approved uc001atc.2 P42898 OTTHUMG00000002277 ENST00000376592.1:c.665C>T chr1.hg19:g.11856378G>A ENSP00000365777:p.Ala222Val NA B2R7A6|Q5SNW6|Q5SNW9|Q7Z6M6|Q8IU73|Q9UQR2 hg19 CCDS137.1 0.02 6.495166 TCGxCTC COVERED 708 0.3241758241758242 55 0.11178861788617886 176 0.4861878453038674 210 0.36713286713286714 267 0.35224274406332456 G 21.9 4.210837 0.79240 0.121652 0.34686 ENSG00000177000 ENST00000376592;ENST00000376583;ENST00000376590;ENST00000376585 D;D;D;D 0.96491 -4.03;-4.03;-4.03;-4.03 5.08 5.08 0.68730 . 0.047442 0.85682 D 0.000000 T 0.00012 0.0000 M 0.78801 2.425 0.09310 P 0.9999999135526 D;D 0.76494 0.998;0.999 D;D 0.76071 0.941;0.987 T 0.00000 -1.4547 9 0.56958 D 0.05 . 17.4321 0.87542 0.0:0.0:1.0:0.0 rs1801133;rs4134713;rs59514310;rs1801133 222;263 P42898;Q5SNW6 MTHR_HUMAN;. V 222;263;222;263 ENSP00000365777:A222V;ENSP00000365767:A263V;ENSP00000365775:A222V;ENSP00000365770:A263V ENSP00000365767:A263V A - 2 0 MTHFR 11778965 1.000000 0.71417 0.994000 0.49952 0.116000 0.19942 9.044000 0.93805 2.514000 0.84764 0.655000 0.94253 GCC NOVEL MTHFR-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000006538.1 0 40.967212 KEEP 0 1 31 147 5291 GG 1 1 0 - 7 60 252 0 0 16.138515 149 60 5514 422 ENST00000376592.1 0.044872 1 VPS13D 55187 __UNKNOWN__ __UNKNOWN__ 1 12339619 12339619 __UNKNOWN__ Missense_Mutation SNP A A T rs4845898 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:12339619A>T ENST00000358136.3 + 20 4644 c.4514A>T c.(4513-4515)gAa>gTa p.E1505V VPS13D_ENST00000356315.4_Missense_Mutation_p.E1505V NM_015378.2 NP_056193.2 vacuolar protein sorting 13 homolog D (S. cerevisiae) NA NA NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) ATAGAGAGAGAATCTGAATTG 0.378 NA A||| 807 0.161142 0.0151 0.2118 5008 , , NA 16353 0.1964 NA 0.2356 False NA ,,, NA NA NA 2504 0.2096 NA NA NA NA 0 A VAL/GLU,VAL/GLU 190,4216 121.3+/-158.8 6,178,2019 103 104 104 4514,4514 6 1 1 dbSNP_111 104 1970,6630 346.9+/-326.4 213,1544,2543 yes missense,missense VPS13D NM_015378.2,NM_018156.2 121,121 219,1722,4562 TT,TA,AA 22.907,4.3123,16.6077 benign,benign 1505/4389,1505/4364 12339619 2160,10846 2203 4300 6503 SO:0001583 missense AJ608774 CCDS30588.1, CCDS30589.1 1p36.21 2008-02-05 2006-04-04 ENSG00000048707 ENSG00000048707 55187 23595 protein-coding gene gene with protein product 608877 vacuolar protein sorting 13D (yeast) NA Standard NM_015378 NM_015378 NA Approved FLJ10619, KIAA0453 uc001atv.3 Q5THJ4 OTTHUMG00000013155 ENST00000358136.3:c.4514A>T chr1.hg19:g.12339619A>T ENSP00000350854:p.Glu1505Val NA hg19 CCDS30588.1 0.02 7.859414 GAGxATC COVERED 374|374 0.17124542124542125|0.17124542124542125 13|13 0.026422764227642278|0.026422764227642278 75|75 0.20718232044198895|0.20718232044198895 114|114 0.1993006993006993|0.1993006993006993 172|172 0.22691292875989447|0.22691292875989447 A|A 17.77|17.77 3.471713|3.471713 0.63737|0.63737 0.043123|0.043123 0.22907|0.22907 ENSG00000048707|ENSG00000048707 ENST00000356315;ENST00000358136|ENST00000011700 T;T|. 0.54279|. 0.58;0.59|. 6.02|6.02 6.02|6.02 0.97574|0.97574 .|. 0.213969|. 0.47852|. D|. 0.000216|. T|T 0.00039|0.00039 0.0001|0.0001 N|N 0.24115|0.24115 0.695|0.695 0.09310|0.09310 P|P 1.0|1.0 P;B|. 0.49559|. 0.925;0.09|. P;B|. 0.45712|. 0.491;0.046|. T|T 0.04140|0.04140 -1.0974|-1.0974 9|4 0.38643|. T|. 0.18|. .|. 16.542|16.542 0.84395|0.84395 1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0 rs4845898;rs17350565;rs4845898|rs4845898;rs17350565;rs4845898 1505;1505|. Q5THJ4-2;Q5THJ4|. .;VP13D_HUMAN|. V|Y 1505|328 ENSP00000348666:E1505V;ENSP00000350854:E1505V|. ENSP00000348666:E1505V|. E|N +|+ 2|1 0|0 VPS13D|VPS13D 12262206|12262206 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.996000|0.996000 0.88848|0.88848 4.771000|4.771000 0.62318|0.62318 2.304000|2.304000 0.77564|0.77564 0.528000|0.528000 0.53228|0.53228 GAA|AAT NOVEL VPS13D-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000036897.2 0 15.043288 KEEP 0 0 0 50 1549 AA 1 1 0 + 8 60 273 0 0 16.271087 208 60 7466 327 ENST00000358136.3 0.037037 1 VPS13D 55187 __UNKNOWN__ __UNKNOWN__ 1 12401868 12401868 __UNKNOWN__ Silent SNP A A C rs28551666 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:12401868A>C ENST00000358136.3 + 41 8788 c.8658A>C c.(8656-8658)ccA>ccC p.P2886P VPS13D_ENST00000356315.4_Silent_p.P2861P NM_015378.2 NP_056193.2 vacuolar protein sorting 13 homolog D (S. cerevisiae) NA NA NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) GCCGGCAGCCATTTGTCCCCT 0.567 NA A||| 3990 0.796725 0.7398 0.7579 5008 , , NA 16866 0.8978 NA 0.7913 False NA ,,, NA NA NA 2504 0.8027 NA NA NA NA 0 A , 3345,1061 724.7+/-409.5 1279,787,137 95 97 96 8658,8583 -11.6 0.4 1 dbSNP_125 96 6911,1689 738.5+/-407.1 2773,1365,162 no coding-synonymous,coding-synonymous VPS13D NM_015378.2,NM_018156.2 , 4052,2152,299 CC,CA,AA 19.6395,24.0808,21.1441 , 2886/4389,2861/4364 12401868 10256,2750 2203 4300 6503 SO:0001819 synonymous_variant AJ608774 CCDS30588.1, CCDS30589.1 1p36.21 2008-02-05 2006-04-04 ENSG00000048707 ENSG00000048707 55187 23595 protein-coding gene gene with protein product 608877 vacuolar protein sorting 13D (yeast) NA Standard NM_015378 NM_015378 NA Approved FLJ10619, KIAA0453 uc001atv.3 Q5THJ4 OTTHUMG00000013155 ENST00000358136.3:c.8658A>C chr1.hg19:g.12401868A>C NA hg19 CCDS30588.1 0.02 4.378747 GCCxTTT COVERED 1741 0.7971611721611722 357 0.725609756097561 276 0.7624309392265194 515 0.9003496503496503 593 0.7823218997361477 A 9.971 1.225393 0.22457 0.759192 0.803605 ENSG00000048707 ENST00000011700 . . . 5.82 -11.6 0.00059 . . . . . T 0.00012 0.0000 . . . 0.09310 P 0.999999999438343 . . . . . . T 0.19976 -1.0289 3 . . . . 8.5071 0.33195 0.176:0.4005:0.3599:0.0637 rs28551666;rs60764499;rs28551666 . . . P 1708 . . H + 2 0 VPS13D 12324455 0.000000 0.05858 0.440000 0.26846 0.986000 0.74619 -3.659000 0.00401 -2.202000 0.00745 -0.256000 0.11100 CAT NOVEL VPS13D-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000036897.2 1 12.670729 KEEP 0 1 37 55 1687 AA 1 0.999999 0 + 7 60 248 0 0 16.434534 118 60 4259 235 ENST00000358136.3 0.056 0.999999 DHRS3 9249 __UNKNOWN__ __UNKNOWN__ 1 12628188 12628188 __UNKNOWN__ 3'UTR SNP T T C rs4580 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:12628188T>C ENST00000376223.2 - 0 1473 NM_004753.4 NP_004744.2 O75911 DHRS3_HUMAN dehydrogenase/reductase (SDR family) member 3 NA NA bone morphogenesis (GO:0060349)|cardiac septum morphogenesis (GO:0060411)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|phototransduction, visible light (GO:0007603)|regulation of ossification (GO:0030278)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601) integral component of membrane (GO:0016021)|photoreceptor outer segment membrane (GO:0042622) electron carrier activity (GO:0009055)|NADP-retinol dehydrogenase activity (GO:0052650)|nucleotide binding (GO:0000166)|retinol dehydrogenase activity (GO:0004745) cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1) 9 Ovarian(185;0.249) Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419) Vitamin A(DB00162) GGGTCAGTTATACCCATCAGT 0.537 NA C||| 1524 0.304313 0.2716 0.2017 5008 , , NA 17899 0.3631 NA 0.339 False NA ,,, NA NA NA 2504 0.3252 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF061741 CCDS146.1 1p36.1 2011-09-20 ENSG00000162496 ENSG00000162496 9249 1.1.-.- Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3 17693 protein-coding gene gene with protein product short chain dehydrogenase/reductase family 16C, member 1 612830 NA 9705317, 12226107, 19027726 Standard NM_004753 XM_005263533 NA Approved retSDR1, Rsdr1, SDR1, RDH17, SDR16C1 uc001auc.3 O75911 OTTHUMG00000001885 ENST00000376223.2:c.*181A>G chr1.hg19:g.12628188T>C NA B2R7F3|Q5VUY3|Q6UY38|Q9BUC8 hg19 CCDS146.1 0.02 8.757184 TTAxACC COVERED NOVEL DHRS3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000005318.1 1 4.643771 KEEP 0 1 30 26 770 TT 0.999988 0.999988 0 - 8 60 298 0 0 18.763979 208 60 7251 282 ENST00000376223.2 0.037037 1 DHRS3 9249 __UNKNOWN__ __UNKNOWN__ 1 12639289 12639289 __UNKNOWN__ Intron SNP C C T rs12041395 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:12639289C>T ENST00000376223.2 - 3 843 NM_004753.4 NP_004744.2 O75911 DHRS3_HUMAN dehydrogenase/reductase (SDR family) member 3 NA NA bone morphogenesis (GO:0060349)|cardiac septum morphogenesis (GO:0060411)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|phototransduction, visible light (GO:0007603)|regulation of ossification (GO:0030278)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601) integral component of membrane (GO:0016021)|photoreceptor outer segment membrane (GO:0042622) electron carrier activity (GO:0009055)|NADP-retinol dehydrogenase activity (GO:0052650)|nucleotide binding (GO:0000166)|retinol dehydrogenase activity (GO:0004745) cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1) 9 Ovarian(185;0.249) Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419) Vitamin A(DB00162) CCTGCACGCCCGGGGCTGGCT 0.622 NA C||| 318 0.0634984 0.0023 0.0533 5008 , , NA 19016 0.1696 NA 0.0467 False NA ,,, NA NA NA 2504 0.0613 NA NA NA NA 0 C 41,4365 45.3+/-79.5 0,41,2162 49 44 46 -1.7 0 1 dbSNP_120 46 322,8278 113.1+/-173.2 8,306,3986 no intron DHRS3 NM_004753.4 8,347,6148 TT,TC,CC 3.7442,0.9305,2.791 12639289 363,12643 2203 4300 6503 SO:0001627 intron_variant AF061741 CCDS146.1 1p36.1 2011-09-20 ENSG00000162496 ENSG00000162496 9249 1.1.-.- Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3 17693 protein-coding gene gene with protein product short chain dehydrogenase/reductase family 16C, member 1 612830 NA 9705317, 12226107, 19027726 Standard NM_004753 XM_005263533 NA Approved retSDR1, Rsdr1, SDR1, RDH17, SDR16C1 uc001auc.3 O75911 OTTHUMG00000001885 ENST00000376223.2:c.459+31G>A chr1.hg19:g.12639289C>T NA B2R7F3|Q5VUY3|Q6UY38|Q9BUC8 hg19 CCDS146.1 0.02 11.339194 GCCxGGG COVERED NOVEL DHRS3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000005318.1 0 23.307491 KEEP 0 1 33 89 3012 CC 1 1 0 - 14 60 518 0 0 34.2638 270 60 9453 446 ENST00000376223.2 0.049296 1 DHRS3 9249 __UNKNOWN__ __UNKNOWN__ 1 12640461 12640461 __UNKNOWN__ Intron SNP C C G rs2275873 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:12640461C>G ENST00000376223.2 - 2 723 DHRS3_ENST00000482265.1_5'UTR NM_004753.4 NP_004744.2 O75911 DHRS3_HUMAN dehydrogenase/reductase (SDR family) member 3 NA NA bone morphogenesis (GO:0060349)|cardiac septum morphogenesis (GO:0060411)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|phototransduction, visible light (GO:0007603)|regulation of ossification (GO:0030278)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601) integral component of membrane (GO:0016021)|photoreceptor outer segment membrane (GO:0042622) electron carrier activity (GO:0009055)|NADP-retinol dehydrogenase activity (GO:0052650)|nucleotide binding (GO:0000166)|retinol dehydrogenase activity (GO:0004745) cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1) 9 Ovarian(185;0.249) Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419) Vitamin A(DB00162) ATAAGCAGAGCTCTCTTCCAG 0.542 NA C||| 309 0.0617013 0.0023 0.0519 5008 , , NA 19347 0.1647 NA 0.0457 False NA ,,, NA NA NA 2504 0.0593 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF061741 CCDS146.1 1p36.1 2011-09-20 ENSG00000162496 ENSG00000162496 9249 1.1.-.- Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3 17693 protein-coding gene gene with protein product short chain dehydrogenase/reductase family 16C, member 1 612830 NA 9705317, 12226107, 19027726 Standard NM_004753 XM_005263533 NA Approved retSDR1, Rsdr1, SDR1, RDH17, SDR16C1 uc001auc.3 O75911 OTTHUMG00000001885 ENST00000376223.2:c.339+89G>C chr1.hg19:g.12640461C>G NA B2R7F3|Q5VUY3|Q6UY38|Q9BUC8 hg19 CCDS146.1 0.02 4.529929 GAGxTCT COVERED NOVEL DHRS3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000005318.1 1 11.728904 KEEP 0 0 0 39 1385 CC 1 1 0 - 11 60 393 0 0 27.749546 131 60 4813 208 ENST00000376223.2 0.077465 1 PRAMEF1 65121 __UNKNOWN__ __UNKNOWN__ 1 12854414 12854414 __UNKNOWN__ Missense_Mutation SNP G G A rs1063769 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:12854414G>A ENST00000332296.7 + 3 741 c.638G>A c.(637-639)cGc>cAc p.R213H NM_023013.2 NP_075389.1 O95521 PRAM1_HUMAN PRAME family member 1 213 NA R -> H (in dbSNP:rs1063769). negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284) cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CTGGAAATTCGCAACATGTCC 0.403 NA NA NA NA NA NA NA NA NA NA NA 0 332 303 313 NA NA 1 NA 12854414 2203 4300 6503 SO:0001583 missense AL049686 CCDS148.1 1p36.21 2013-01-17 ENSG00000116721 ENSG00000116721 65121 - 28840 protein-coding gene gene with protein product NA Standard NM_023013 NM_023013 NA Approved uc001auj.2 O95521 OTTHUMG00000001928 ENST00000332296.7:c.638G>A chr1.hg19:g.12854414G>A ENSP00000332134:p.Arg213His NA Q9UQP2 hg19 CCDS148.1 0.02 6.597554 TTCxCAA COVERED . . . . . . . . . . . 2.614 -0.290146 0.05568 . . ENSG00000116721 ENST00000332296 T 0.01025 5.43 1.61 -3.22 0.05125 . 0.000000 0.49916 U 0.000135 T 0.00666 0.0022 L 0.34521 1.04 0.80722 P 0.0 B 0.09022 0.002 B 0.06405 0.002 T 0.48514 -0.9029 9 0.16420 T 0.52 . 3.4737 0.07577 0.1852:0.0:0.2519:0.5629 rs1063769 213 O95521 PRAM1_HUMAN H 213 ENSP00000332134:R213H ENSP00000332134:R213H R + 2 0 PRAMEF1 12777001 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -1.869000 0.01643 -1.558000 0.01690 -0.446000 0.05623 CGC NOVEL PRAMEF1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000005458.1 3 3.309702 KEEP 7 0 0 11 350 GG 0.993072 0.993072 0 + 12 25 416 0 0 29.256853 136 60 4445 187 ENST00000332296.7 0.081081 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 12922005 12922005 __UNKNOWN__ IGR SNP G G A rs192320609 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:12922005G>A NA NA PRAMEF2 (241 upstream) : PRAMEF4 (17039 downstream) NA NA NA CTACAGAGTCGGAAAGAGAAG 0.433 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.12922005G>A NA hg19 0.02 21.477368 GTCxGAA COVERED NOVEL 0 3 2.977946 KEEP 45 2 66 33 1045 GG 0.999997 0.999997 0 54 51 1995 0 0 152.015653 425 60 14300 596 0.112735 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 12922108 12922108 __UNKNOWN__ IGR SNP G G C rs1968976 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:12922108G>C NA NA PRAMEF2 (344 upstream) : PRAMEF4 (16936 downstream) NA NA NA AACTTTTAACGTGTTGTAGCA 0.338 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.12922108G>C NA hg19 0.02 25.019813 AACxTGT COVERED NOVEL 0 1 8.94871 KEEP 8 1 35 42 1405 GG 1 1 0 33 37 1208 0 0 81.144148 564 48 20036 754 0.055276 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 13183780 13183780 __UNKNOWN__ IGR SNP A A C rs116484938 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:13183780A>C NA NA RP13-221M14.3 (19312 upstream) : PRAMEF26 (32575 downstream) NA NA NA CCTCCACATCAGATTTCTTGA 0.468 NA NA NA NA NA NA NA NA NA NA NA 0 60 43 48 NA NA 1 NA 13183780 690 1587 2277 SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.13183780A>C NA hg19 0.02 19.387132 ATCxGAT COVERED NOVEL 0 4 10.831369 KEEP 10 0 0 36 1114 AA 0.999999 0.999999 0 14 40 475 0 0 26.465817 488 60 17809 596 0.027888 1 PRAMEF26 645359 __UNKNOWN__ __UNKNOWN__ 1 13219066 13219066 __UNKNOWN__ Silent SNP T T C rs4026306 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:13219066T>C ENST00000423177.1 - 1 515 c.516A>G c.(514-516)gcA>gcG p.A172A H0Y7S4 PRA26_HUMAN PRAME family member 26 0 NA NA TTGGAGGCAGTGCAGCTTGAG 0.522 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001819 synonymous_variant 1p36.21 2014-02-12 2013-09-24 ENSG00000229571 ENSG00000229571 645359 49178 protein-coding gene gene with protein product NA Standard XM_005276124 NA Approved H0Y7S4 OTTHUMG00000074741 ENST00000423177.1:c.516A>G chr1.hg19:g.13219066T>C NA hg19 0.02 3.962077 CAGxGCA UNCOVERED NOVEL PRAMEF26-001 PUTATIVE not_best_in_genome_evidence|mRNA_start_NF|cds_start_NF|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000158526.1 2 2.706837 KEEP 17 0 0 9 260 TT 0 0 0 - 6 40 207 0 0 13.073797 121 46 4279 164 ENST00000423177.1 0.047244 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 13882346 13882346 __UNKNOWN__ IGR SNP A A G rs35979056 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:13882346A>G NA NA RP4-597A16.2 (39581 upstream) : PDPN (27613 downstream) NA NA NA ATTTTATTACATAAGTGTTTA 0.289 NA A||| 1633 0.326078 0.2799 0.3271 5008 , , NA 16502 0.4246 NA 0.3012 False NA ,,, NA NA NA 2504 0.3119 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.13882346A>G NA hg19 0.02 8.539454 TACxTAA COVERED NOVEL 0 4 6.919742 KEEP 0 0 0 23 717 AA 0.999892 0.999892 0 8 60 291 0 0 18.035467 210 60 7685 272 0.036697 1 PDPN 10630 __UNKNOWN__ __UNKNOWN__ 1 13910417 13910417 __UNKNOWN__ Silent SNP C C T rs355025 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:13910417C>T ENST00000294489.6 + 1 458 c.117C>T c.(115-117)ccC>ccT p.P39P PDPN_ENST00000376057.4_Silent_p.P39P podoplanin NA NA endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 16 Ovarian(185;0.249) all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678) CTCCGGCCCCCCCACCGTCGC 0.642 NA c||| 2820 0.563099 0.6293 0.4798 5008 , , NA 11983 0.6577 NA 0.329 False NA ,,, NA NA NA 2504 0.6759 NA NA NA NA 0 C , 2451,1947 691,1069,439 18 21 20 117,117 1.4 0 1 dbSNP_79 20 2817,5771 465,1887,1942 no coding-synonymous,coding-synonymous PDPN NM_006474.4,NM_198389.2 , 1156,2956,2381 TT,TC,CC 32.8016,44.2701,40.5668 , 39/239,39/237 13910417 5268,7718 2199 4294 6493 SO:0001819 synonymous_variant AB127958, AY194238 CCDS30602.1, CCDS41266.1, CCDS44060.1, CCDS53270.1 1p36.21 2008-02-05 ENSG00000162493 ENSG00000162493 10630 29602 protein-coding gene gene with protein product lung type I cell membrane associated glycoprotein 608863 NA 10393083, 9651190 Standard NM_006474 NM_006474 NA Approved T1A-2, Gp38, aggrus, GP40, PA2.26 uc001avd.3 Q86YL7 OTTHUMG00000007912 ENST00000294489.6:c.117C>T chr1.hg19:g.13910417C>T NA hg19 CCDS30602.1 0.02 17.150238 CCCxCCA COVERED NOVEL PDPN-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000021783.2 1 31.079132 KEEP 0 8 259 194 6741 CC 1 1 0 + 29 60 1042 0 0 71.994821 399 60 14578 728 ENST00000294489.6 0.067757 1 PDPN 10630 __UNKNOWN__ __UNKNOWN__ 1 13933855 13933855 __UNKNOWN__ Intron SNP A A G rs35870640 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:13933855A>G ENST00000509009.1 + 2 230 PDPN_ENST00000487038.1_Intron|PDPN_ENST00000376057.4_Intron|PDPN_ENST00000294489.6_Intron|PDPN_ENST00000376061.4_Intron|PDPN_ENST00000475043.1_Intron|PDPN_ENST00000513143.1_Intron podoplanin NA NA endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 16 Ovarian(185;0.249) all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678) ATCACATGCAAGGCTATGATG 0.398 NA A||| 1114 0.222444 0.1324 0.4597 5008 , , NA 16569 0.1339 NA 0.338 False NA ,,, NA NA NA 2504 0.1483 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB127958, AY194238 CCDS30602.1, CCDS41266.1, CCDS44060.1, CCDS53270.1 1p36.21 2008-02-05 ENSG00000162493 ENSG00000162493 10630 29602 protein-coding gene gene with protein product lung type I cell membrane associated glycoprotein 608863 NA 10393083, 9651190 Standard NM_006474 NM_006474 NA Approved T1A-2, Gp38, aggrus, GP40, PA2.26 uc001avd.3 Q86YL7 OTTHUMG00000007912 ENST00000509009.1:c.186+54A>G chr1.hg19:g.13933855A>G NA hg19 0.02 5.498989 GCAxGGC COVERED NOVEL PDPN-009 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000367736.1 3 12.034789 KEEP 0 0 0 40 1224 AA 1 1 0 + 6 60 213 0 0 12.602047 184 60 6704 242 ENST00000509009.1 0.031579 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 14219311 14219311 __UNKNOWN__ IGR SNP C C T rs61777377 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:14219311C>T NA NA PRDM2 (67737 upstream) : RNU6-1265P (231416 downstream) NA NA NA GCACTTCCCTCCGCATCCAGA 0.672 NA C||| 640 0.127796 0.025 0.0908 5008 , , NA 12647 0.3571 NA 0.0915 False NA ,,, NA NA NA 2504 0.0941 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.14219311C>T NA hg19 0.02 29.879618 CCTxCGC COVERED NOVEL 0 1 55.498492 KEEP 0 1 21 192 6626 CC 1 1 0 25 60 863 1 0 50.590943 733 60 27447 1203 0.032982 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 14219448 14219448 __UNKNOWN__ IGR SNP C C A rs61777378 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:14219448C>A NA NA PRDM2 (67874 upstream) : RNU6-1265P (231279 downstream) NA NA NA AGGGCCTAGGCGTCCCGAGTG 0.776 NA C||| 729 0.145567 0.0741 0.0994 5008 , , NA 8067 0.3571 NA 0.0954 False NA ,,, NA NA NA 2504 0.1084 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.14219448C>A NA hg19 0.02 8.381732 AGGxGTC COVERED NOVEL 0 1 16.245707 KEEP 0 0 0 54 1664 CC 1 1 0 9 60 314 1 0 19.124485 226 60 7244 316 0.038298 1 KAZN 23254 __UNKNOWN__ __UNKNOWN__ 1 15287168 15287168 __UNKNOWN__ Intron SNP C C T rs41301991 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:15287168C>T ENST00000376030.2 + 2 520 KAZN_ENST00000400797.3_Intron|KAZN_ENST00000400798.2_Intron|KAZN_ENST00000503743.1_Intron|KAZN_ENST00000361144.5_Intron|KAZN_ENST00000422387.2_Intron NM_201628.2 NP_963922.2 Q674X7 KAZRN_HUMAN kazrin, periplakin interacting protein NA NA keratinization (GO:0031424) cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|nucleus (GO:0005634) central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2) 25 ACCCTGTGCCCTTCTCCCCTA 0.562 NA C||| 231 0.0461262 0.0015 0.0461 5008 , , NA 22321 0.121 NA 0.0278 False NA ,,, NA NA NA 2504 0.0481 NA NA NA NA 0 C ,,,, 17,4377 0,17,2180 38 30 33 ,,,, 1 0 1 dbSNP_127 33 208,8354 4,200,4077 no intron,intron,intron,intron,intron KAZN NM_001017999.2,NM_001018000.3,NM_001018001.2,NM_015209.2,NM_201628.2 ,,,, 4,217,6257 TT,TC,CC 2.4293,0.3869,1.7366 ,,,, ,,,, 15287168 225,12731 2197 4281 6478 SO:0001627 intron_variant AY505119 CCDS30604.1, CCDS41267.1, CCDS152.2, CCDS41268.1 1p36.21 2014-02-12 2011-01-31 ENSG00000189337 ENSG00000189337 23254 Sterile alpha motif (SAM) domain containing 29173 protein-coding gene gene with protein product NA 15337775, 18840647 Standard NM_001017999 NM_015209 NA Approved KIAA1026, KAZRIN, FLJ43806 uc001avm.4 Q674X7 OTTHUMG00000002042 ENST00000376030.2:c.227-12C>T chr1.hg19:g.15287168C>T NA B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4 hg19 CCDS152.2 0.02 6.263914 GCCxTTC COVERED NOVEL KAZN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000005690.2 1 16.251837 KEEP 0 0 0 54 1902 CC 1 1 0 + 7 60 256 0 0 16.252836 164 60 6116 289 ENST00000376030.2 0.040936 1 KAZN 23254 __UNKNOWN__ __UNKNOWN__ 1 15441494 15441494 __UNKNOWN__ 3'UTR SNP G G A rs705581 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:15441494G>A ENST00000376030.2 + 0 2985 NM_201628.2 NP_963922.2 Q674X7 KAZRN_HUMAN kazrin, periplakin interacting protein NA NA keratinization (GO:0031424) cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|nucleus (GO:0005634) central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2) 25 CAAGGTGGGAGGAGGCCCACA 0.642 NA A||| 3280 0.654952 0.6157 0.621 5008 , , NA 17975 0.7044 NA 0.6392 False NA ,,, NA NA NA 2504 0.6973 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY505119 CCDS30604.1, CCDS41267.1, CCDS152.2, CCDS41268.1 1p36.21 2014-02-12 2011-01-31 ENSG00000189337 ENSG00000189337 23254 Sterile alpha motif (SAM) domain containing 29173 protein-coding gene gene with protein product NA 15337775, 18840647 Standard NM_001017999 NM_015209 NA Approved KIAA1026, KAZRIN, FLJ43806 uc001avm.4 Q674X7 OTTHUMG00000002042 ENST00000376030.2:c.*363G>A chr1.hg19:g.15441494G>A NA B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4 hg19 CCDS152.2 0.02 4.105095 GGAxGAG COVERED NOVEL KAZN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000005690.2 1 3.514977 KEEP 0 3 98 46 1598 GG 1 1 0 + 11 60 364 0 0 25.036958 134 60 4989 241 ENST00000376030.2 0.075862 1 KAZN 23254 __UNKNOWN__ __UNKNOWN__ 1 15441926 15441926 __UNKNOWN__ 3'UTR SNP C C T rs910105 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:15441926C>T ENST00000376030.2 + 0 3417 NM_201628.2 NP_963922.2 Q674X7 KAZRN_HUMAN kazrin, periplakin interacting protein NA NA keratinization (GO:0031424) cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|nucleus (GO:0005634) central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2) 25 GGATGACCGACGGCCCCATAT 0.517 NA T||| 3038 0.606629 0.4395 0.6095 5008 , , NA 20196 0.7044 NA 0.6382 False NA ,,, NA NA NA 2504 0.6973 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY505119 CCDS30604.1, CCDS41267.1, CCDS152.2, CCDS41268.1 1p36.21 2014-02-12 2011-01-31 ENSG00000189337 ENSG00000189337 23254 Sterile alpha motif (SAM) domain containing 29173 protein-coding gene gene with protein product NA 15337775, 18840647 Standard NM_001017999 NM_015209 NA Approved KIAA1026, KAZRIN, FLJ43806 uc001avm.4 Q674X7 OTTHUMG00000002042 ENST00000376030.2:c.*795C>T chr1.hg19:g.15441926C>T NA B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4 hg19 CCDS152.2 0.02 15.707405 CGAxGGC COVERED NOVEL KAZN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000005690.2 1 15.948727 KEEP 0 0 0 53 1791 CC 1 1 0 + 20 60 725 0 0 48.387804 346 60 11877 518 ENST00000376030.2 0.054645 1 KAZN 23254 __UNKNOWN__ __UNKNOWN__ 1 15442028 15442028 __UNKNOWN__ 3'UTR SNP T T C rs7513431 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:15442028T>C ENST00000376030.2 + 0 3519 NM_201628.2 NP_963922.2 Q674X7 KAZRN_HUMAN kazrin, periplakin interacting protein NA NA keratinization (GO:0031424) cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|nucleus (GO:0005634) central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2) 25 GGCAATGAGTTTGGGGTCTGG 0.488 NA T||| 3364 0.671725 0.6702 0.6369 5008 , , NA 21674 0.7044 NA 0.6402 False NA ,,, NA NA NA 2504 0.6973 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY505119 CCDS30604.1, CCDS41267.1, CCDS152.2, CCDS41268.1 1p36.21 2014-02-12 2011-01-31 ENSG00000189337 ENSG00000189337 23254 Sterile alpha motif (SAM) domain containing 29173 protein-coding gene gene with protein product NA 15337775, 18840647 Standard NM_001017999 NM_015209 NA Approved KIAA1026, KAZRIN, FLJ43806 uc001avm.4 Q674X7 OTTHUMG00000002042 ENST00000376030.2:c.*897T>C chr1.hg19:g.15442028T>C NA B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4 hg19 CCDS152.2 0.02 7.300636 AGTxTGG COVERED NOVEL KAZN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000005690.2 1 8.724949 KEEP 0 0 0 29 904 TT 0.999997 0.999997 0 + 11 60 423 0 0 29.626411 167 60 5920 229 ENST00000376030.2 0.061798 1 KAZN 23254 __UNKNOWN__ __UNKNOWN__ 1 15442058 15442058 __UNKNOWN__ 3'UTR SNP T T C rs2235789 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:15442058T>C ENST00000376030.2 + 0 3549 NM_201628.2 NP_963922.2 Q674X7 KAZRN_HUMAN kazrin, periplakin interacting protein NA NA keratinization (GO:0031424) cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|nucleus (GO:0005634) central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2) 25 ATGCTTGACATTGTTAACCCA 0.478 NA T||| 2241 0.447484 0.2821 0.4467 5008 , , NA 22134 0.6458 NA 0.4254 False NA ,,, NA NA NA 2504 0.4898 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY505119 CCDS30604.1, CCDS41267.1, CCDS152.2, CCDS41268.1 1p36.21 2014-02-12 2011-01-31 ENSG00000189337 ENSG00000189337 23254 Sterile alpha motif (SAM) domain containing 29173 protein-coding gene gene with protein product NA 15337775, 18840647 Standard NM_001017999 NM_015209 NA Approved KIAA1026, KAZRIN, FLJ43806 uc001avm.4 Q674X7 OTTHUMG00000002042 ENST00000376030.2:c.*927T>C chr1.hg19:g.15442058T>C NA B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4 hg19 CCDS152.2 0.02 4.458978 ACAxTGT COVERED NOVEL KAZN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000005690.2 0 7.220714 KEEP 0 0 0 24 731 TT 0.999909 0.999909 0 + 6 60 231 0 0 15.025281 144 60 5187 189 ENST00000376030.2 0.04 1 KAZN 23254 __UNKNOWN__ __UNKNOWN__ 1 15442795 15442795 __UNKNOWN__ 3'UTR SNP T T C rs2235788 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:15442795T>C ENST00000376030.2 + 0 4286 TMEM51-AS1_ENST00000310916.3_RNA NM_201628.2 NP_963922.2 Q674X7 KAZRN_HUMAN kazrin, periplakin interacting protein NA NA keratinization (GO:0031424) cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|nucleus (GO:0005634) central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2) 25 AATTGTTTCCTCTCATGGGGG 0.502 NA T||| 2534 0.50599 0.4682 0.4856 5008 , , NA 22628 0.6438 NA 0.4394 False NA ,,, NA NA NA 2504 0.498 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY505119 CCDS30604.1, CCDS41267.1, CCDS152.2, CCDS41268.1 1p36.21 2014-02-12 2011-01-31 ENSG00000189337 ENSG00000189337 23254 Sterile alpha motif (SAM) domain containing 29173 protein-coding gene gene with protein product NA 15337775, 18840647 Standard NM_001017999 NM_015209 NA Approved KIAA1026, KAZRIN, FLJ43806 uc001avm.4 Q674X7 OTTHUMG00000002042 ENST00000376030.2:c.*1664T>C chr1.hg19:g.15442795T>C NA B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4 hg19 CCDS152.2 0.02 7.903393 TCCxCTC COVERED NOVEL KAZN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000005690.2 1 12.337327 KEEP 0 0 0 41 1306 TT 1 1 0 + 10 60 354 0 0 22.036592 235 60 8574 329 ENST00000376030.2 0.040816 1 KAZN 23254 __UNKNOWN__ __UNKNOWN__ 1 15443476 15443476 __UNKNOWN__ 3'UTR SNP C C G rs2235787 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:15443476C>G ENST00000376030.2 + 0 4967 TMEM51-AS1_ENST00000310916.3_RNA NM_201628.2 NP_963922.2 Q674X7 KAZRN_HUMAN kazrin, periplakin interacting protein NA NA keratinization (GO:0031424) cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|nucleus (GO:0005634) central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2) 25 CTCTTTCACCCATGAGGCTCC 0.502 NA C||| 2493 0.497804 0.4584 0.464 5008 , , NA 22514 0.6448 NA 0.4274 False NA ,,, NA NA NA 2504 0.4959 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY505119 CCDS30604.1, CCDS41267.1, CCDS152.2, CCDS41268.1 1p36.21 2014-02-12 2011-01-31 ENSG00000189337 ENSG00000189337 23254 Sterile alpha motif (SAM) domain containing 29173 protein-coding gene gene with protein product NA 15337775, 18840647 Standard NM_001017999 NM_015209 NA Approved KIAA1026, KAZRIN, FLJ43806 uc001avm.4 Q674X7 OTTHUMG00000002042 ENST00000376030.2:c.*2345C>G chr1.hg19:g.15443476C>G NA B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4 hg19 CCDS152.2 0.02 8.889362 ACCxATG COVERED NOVEL KAZN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000005690.2 2 12.033327 KEEP 0 0 0 40 1406 CC 1 1 0 + 10 60 366 0 0 23.420254 225 60 8540 325 ENST00000376030.2 0.042553 1 KAZN 23254 __UNKNOWN__ __UNKNOWN__ 1 15443898 15443898 __UNKNOWN__ 3'UTR SNP G G A rs2235785 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:15443898G>A ENST00000376030.2 + 0 5389 TMEM51-AS1_ENST00000310916.3_RNA NM_201628.2 NP_963922.2 Q674X7 KAZRN_HUMAN kazrin, periplakin interacting protein NA NA keratinization (GO:0031424) cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|nucleus (GO:0005634) central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2) 25 GAGCCTCTGCGAGGCCCCTTT 0.562 NA A||| 2151 0.429513 0.2156 0.4395 5008 , , NA 18125 0.6448 NA 0.4254 False NA ,,, NA NA NA 2504 0.4939 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY505119 CCDS30604.1, CCDS41267.1, CCDS152.2, CCDS41268.1 1p36.21 2014-02-12 2011-01-31 ENSG00000189337 ENSG00000189337 23254 Sterile alpha motif (SAM) domain containing 29173 protein-coding gene gene with protein product NA 15337775, 18840647 Standard NM_001017999 NM_015209 NA Approved KIAA1026, KAZRIN, FLJ43806 uc001avm.4 Q674X7 OTTHUMG00000002042 ENST00000376030.2:c.*2767G>A chr1.hg19:g.15443898G>A NA B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4 hg19 CCDS152.2 0.02 13.417363 TGCxAGG COVERED NOVEL KAZN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000005690.2 3 20.764645 KEEP 0 0 0 69 2317 GG 1 1 0 + 12 60 455 0 0 28.657033 330 60 11659 497 ENST00000376030.2 0.035088 1 KAZN 23254 __UNKNOWN__ __UNKNOWN__ 1 15444288 15444288 __UNKNOWN__ 3'UTR SNP C C T rs2235784 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:15444288C>T ENST00000376030.2 + 0 5779 TMEM51-AS1_ENST00000310916.3_RNA NM_201628.2 NP_963922.2 Q674X7 KAZRN_HUMAN kazrin, periplakin interacting protein NA NA keratinization (GO:0031424) cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|nucleus (GO:0005634) central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2) 25 TTCGAGGCTCCGGAGGGCTCT 0.592 NA C||| 3035 0.60603 0.4614 0.5836 5008 , , NA 17896 0.7054 NA 0.6223 False NA ,,, NA NA NA 2504 0.6984 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY505119 CCDS30604.1, CCDS41267.1, CCDS152.2, CCDS41268.1 1p36.21 2014-02-12 2011-01-31 ENSG00000189337 ENSG00000189337 23254 Sterile alpha motif (SAM) domain containing 29173 protein-coding gene gene with protein product NA 15337775, 18840647 Standard NM_001017999 NM_015209 NA Approved KIAA1026, KAZRIN, FLJ43806 uc001avm.4 Q674X7 OTTHUMG00000002042 ENST00000376030.2:c.*3157C>T chr1.hg19:g.15444288C>T NA B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4 hg19 CCDS152.2 0.02 4.329602 CTCxGGA COVERED NOVEL KAZN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000005690.2 2 7.058068 KEEP 0 1 33 35 1207 CC 0.999999 0.999999 0 + 6 60 218 0 0 13.875314 136 60 4832 215 ENST00000376030.2 0.042254 1 KAZN 23254 __UNKNOWN__ __UNKNOWN__ 1 15444487 15444487 __UNKNOWN__ 3'UTR SNP G G A rs2235783 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:15444487G>A ENST00000376030.2 + 0 5978 TMEM51-AS1_ENST00000310916.3_RNA NM_201628.2 NP_963922.2 Q674X7 KAZRN_HUMAN kazrin, periplakin interacting protein NA NA keratinization (GO:0031424) cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|nucleus (GO:0005634) central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2) 25 GCCCCAAATCGCTTCCCCGAG 0.468 NA g||| 3037 0.60643 0.4629 0.5836 5008 , , NA 17656 0.7054 NA 0.6223 False NA ,,, NA NA NA 2504 0.6984 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY505119 CCDS30604.1, CCDS41267.1, CCDS152.2, CCDS41268.1 1p36.21 2014-02-12 2011-01-31 ENSG00000189337 ENSG00000189337 23254 Sterile alpha motif (SAM) domain containing 29173 protein-coding gene gene with protein product NA 15337775, 18840647 Standard NM_001017999 NM_015209 NA Approved KIAA1026, KAZRIN, FLJ43806 uc001avm.4 Q674X7 OTTHUMG00000002042 ENST00000376030.2:c.*3356G>A chr1.hg19:g.15444487G>A NA B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4 hg19 CCDS152.2 0.02 4.100455 ATCxCTT COVERED NOVEL KAZN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000005690.2 0 8.728679 KEEP 0 0 0 29 1038 GG 0.999997 0.999997 0 + 7 60 240 0 0 15.424368 127 60 4641 196 ENST00000376030.2 0.052239 1 TMEM51 55092 __UNKNOWN__ __UNKNOWN__ 1 15490865 15490865 __UNKNOWN__ Intron SNP T T A rs61561984 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:15490865T>A ENST00000428417.1 + 1 253 TMEM51_ENST00000376008.2_Intron|TMEM51_ENST00000376014.3_Intron|TMEM51_ENST00000434578.2_Intron|C1orf195_ENST00000424792.1_Missense_Mutation_p.Y64F|TMEM51_ENST00000400796.3_Intron NM_001136217.1 NP_001129689.1 Q9NW97 TMM51_HUMAN transmembrane protein 51 NA NA integral component of membrane (GO:0016021) breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2) 14 Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751) ctttgaagagtactggttagt 0.413 NA T||| 1134 0.226438 0.0219 0.304 5008 , , NA 20204 0.5228 NA 0.1879 False NA ,,, NA NA NA 2504 0.182 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK098467 CCDS154.1 1p36.21 2008-02-05 2005-05-22 2005-05-22 ENSG00000171729 ENSG00000171729 55092 25488 protein-coding gene gene with protein product chromosome 1 open reading frame 72 C1orf72 NA 12477932 Standard NM_018022 NM_018022 NA Approved FLJ10199 uc001avx.3 Q9NW97 OTTHUMG00000002046 ENST00000428417.1:c.-194+11585T>A chr1.hg19:g.15490865T>A NA A8K819 hg19 CCDS154.1 0.02 9.789063 GAGxACT COVERED 568 0.2600732600732601 17 0.034552845528455285 105 0.2900552486187845 309 0.5402097902097902 137 0.18073878627968337 T 4.775 0.144196 0.09134 . . ENSG00000204464 ENST00000424792 . . . 2.18 -2.55 0.06288 . . . . . T 0.00012 0.0000 . . . 0.80722 P 0.0 . . . . . . T 0.44190 -0.9344 4 0.87932 D 0 . 3.7641 0.08616 0.0:0.1571:0.468:0.3749 rs61561984 . . . F 64 . ENSP00000404472:Y64F Y - 2 0 C1orf195 15363452 0.000000 0.05858 0.000000 0.03702 0.092000 0.18411 -0.908000 0.04063 -0.562000 0.06086 -0.464000 0.05259 TAC NOVEL TMEM51-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000005699.3 2 21.959689 KEEP 0 0 0 73 2130 TT 1 1 0 + 8 60 287 0 0 16.615485 283 60 9793 432 ENST00000428417.1 0.027491 1 FHAD1 114827 __UNKNOWN__ __UNKNOWN__ 1 15723843 15723843 __UNKNOWN__ Silent SNP G G A rs2294490 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:15723843G>A ENST00000375998.4 + 30 4173 c.4173G>A c.(4171-4173)ctG>ctA p.L1391L FHAD1_ENST00000358897.4_Silent_p.L1391L|FHAD1_ENST00000471347.1_3'UTR|FHAD1_ENST00000314740.8_Silent_p.L662L|FHAD1_ENST00000417793.1_Silent_p.L1355L B1AJZ9 FHAD1_HUMAN forkhead-associated (FHA) phosphopeptide binding domain 1 1391 NA skin(1)|stomach(1) 2 GAGAGATGCTGAGGAAAGAGA 0.478 NA G||| 1556 0.310703 0.0983 0.2925 5008 , , NA 14855 0.4504 NA 0.4533 False NA ,,, NA NA NA 2504 0.32 NA NA NA NA 0 G 195,1189 10,175,507 119 114 116 4173 1.2 0.4 1 dbSNP_100 116 1470,1712 337,796,458 no coding-synonymous FHAD1 NM_052929.1 347,971,965 AA,AG,GG 46.1974,14.0896,36.4652 1391/1413 15723843 1665,2901 692 1591 2283 SO:0001819 synonymous_variant AK093300 1p36.21 2012-04-19 ENSG00000142621 ENSG00000142621 114827 29408 protein-coding gene gene with protein product NA 11572484 Standard NM_052929 NM_052929 NA Approved KIAA1937 uc001awb.2 B1AJZ9 OTTHUMG00000002088 ENST00000375998.4:c.4173G>A chr1.hg19:g.15723843G>A NA Q0P6F5|Q8N8D3|Q8N9T6|Q8NA05 hg19 0.02 10.641612 GCTxAGG COVERED NOVEL FHAD1-026 PUTATIVE basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000393400.2 0 5.285979 KEEP 0 2 58 38 1349 GG 1 1 0 + 19 60 684 0 0 47.877965 243 60 9222 332 ENST00000375998.4 0.072519 1 EFHD2 79180 __UNKNOWN__ __UNKNOWN__ 1 15755248 15755248 __UNKNOWN__ 3'UTR SNP C C T rs3765372 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:15755248C>T ENST00000375980.4 + 0 828 NM_024329.5 NP_077305.2 Q96C19 EFHD2_HUMAN EF-hand domain family, member D2 NA NA membrane (GO:0016020) calcium ion binding (GO:0005509) large_intestine(1)|skin(1) 2 Renal(390;0.00145)|Breast(348;0.00173)|Colorectal(325;0.00215)|all_lung(284;0.00366)|Lung NSC(340;0.00395)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)|Hepatocellular(190;0.152) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.59e-07)|COAD - Colon adenocarcinoma(227;3.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000119)|KIRC - Kidney renal clear cell carcinoma(229;0.00251)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649) CGCCCTGCTCCGGCCCCAGTG 0.597 NA C||| 852 0.170128 0.0424 0.1671 5008 , , NA 13122 0.246 NA 0.1501 False NA ,,, NA NA NA 2504 0.2873 NA NA NA NA 0 C 184,4134 4,176,1979 27 28 27 -7.1 0 1 dbSNP_107 27 1106,7368 63,980,3194 no utr-3 EFHD2 NM_024329.5 67,1156,5173 TT,TC,CC 13.0517,4.2612,10.0844 15755248 1290,11502 2159 4237 6396 SO:0001624 3_prime_UTR_variant BC014923 CCDS155.1 1p36 2014-07-01 2005-01-25 ENSG00000142634 ENSG00000142634 79180 EF-hand domain containing 28670 protein-coding gene gene with protein product swiprosin-1 EF hand domain containing 2 NA 21244694 Standard NM_024329 NM_024329 NA Approved MGC4342 uc001awh.2 Q96C19 OTTHUMG00000002254 ENST00000375980.4:c.*28C>T chr1.hg19:g.15755248C>T NA Q5JYW9 hg19 CCDS155.1 0.02 4.06734 CTCxGGC COVERED NOVEL EFHD2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000006433.1 2 9.764522 KEEP 0 1 30 43 1452 CC 1 0.999997 0 + 5 60 169 0 0 10.369807 110 60 4096 169 ENST00000375980.4 0.043478 0.999997 CTRC 11330 __UNKNOWN__ __UNKNOWN__ 1 15770099 15770099 __UNKNOWN__ Intron SNP G G C rs6679763 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:15770099G>C ENST00000375949.4 + 5 519 CTRC_ENST00000375943.2_Intron|CTRC_ENST00000483406.1_Intron NM_007272.2 NP_009203.2 Q99895 CTRC_HUMAN chymotrypsin C (caldecrin) NA NA proteolysis (GO:0006508) peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252) endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|prostate(1) 13 Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) AAGGAAGCAGGACGTCACCCA 0.483 NA C||| 310 0.061901 0.121 0.0519 5008 , , NA 21734 0.0744 NA 0.0169 False NA ,,, NA NA NA 2504 0.0225 NA NA NA NA 0 C 428,3978 19,390,1794 53 52 52 0.7 0 1 dbSNP_116 52 29,8571 0,29,4271 no intron CTRC NM_007272.2 19,419,6065 CC,CG,GG 0.3372,9.714,3.5138 15770099 457,12549 2203 4300 6503 SO:0001627 intron_variant BC015118 CCDS156.1 1p36.21 2009-02-18 ENSG00000162438 ENSG00000162438 11330 3.4.21.2 2523 protein-coding gene gene with protein product elastase 4 601405 NA 8635596 Standard NM_007272 NM_007272 NA Approved CLCR, ELA4 uc001awi.1 Q99895 OTTHUMG00000002255 ENST00000375949.4:c.493+49G>C chr1.hg19:g.15770099G>C NA A8K082|O00765|Q9NUH5 hg19 CCDS156.1 0.02 19.068641 CAGxACG COVERED NOVEL CTRC-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000006435.1 1 25.884124 KEEP 0 0 0 86 3052 GG 1 1 0 + 15 60 576 0 0 36.943375 388 60 14460 639 ENST00000375949.4 0.037221 1 CELA2B 51032 __UNKNOWN__ __UNKNOWN__ 1 15808702 15808702 __UNKNOWN__ Intron SNP C C T rs4661635 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:15808702C>T ENST00000375910.3 + 4 252 CELA2B_ENST00000494280.1_Intron NM_015849.2 NP_056933 P08218 CEL2B_HUMAN chymotrypsin-like elastase family, member 2B NA NA extracellular region (GO:0005576) serine-type endopeptidase activity (GO:0004252) breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1) 8 CTATCCCTAGCATTATTCAAA 0.557 NA C||| 1577 0.314896 0.2753 0.2896 5008 , , NA 13935 0.5575 NA 0.2376 False NA ,,, NA NA NA 2504 0.2157 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS30605.1 1p36.21 2009-07-09 ENSG00000215704 ENSG00000215704 51032 29995 protein-coding gene gene with protein product pancreatic elastase IIB 609444 NA 3646943, 16327289 Standard NM_015849 NM_015849 NA Approved RP11-265F14.2, ELA2B uc001awl.3 P08218 OTTHUMG00000002259 ENST00000375910.3:c.228-58C>T chr1.hg19:g.15808702C>T NA Q14D16|Q6ISM5|Q96QV5 hg19 CCDS30605.1 0.02 3.868895 TAGxATT COVERED NOVEL CELA2B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000006448.1 1 4.780966 KEEP 0 0 0 16 531 CC 0.997832 0.997832 0 + 9 60 305 0 0 20.083334 140 60 5171 171 ENST00000375910.3 0.060403 1 CELA2B 51032 __UNKNOWN__ __UNKNOWN__ 1 15808767 15808767 __UNKNOWN__ Missense_Mutation SNP G G A rs3820071 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:15808767G>A ENST00000375910.3 + 4 260 c.235G>A c.(235-237)Ggg>Agg p.G79R CELA2B_ENST00000494280.1_3'UTR NM_015849.2 NP_056933 P08218 CEL2B_HUMAN chymotrypsin-like elastase family, member 2B 79 Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}. NA G -> R (in dbSNP:rs3820071). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:3646943}. extracellular region (GO:0005576) serine-type endopeptidase activity (GO:0004252) breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1) 8 CAGCTCCTCCGGGATCTACCG 0.567 NA G||| 1635 0.326478 0.2776 0.3473 5008 , , NA 14119 0.5685 NA 0.2416 False NA ,,, NA NA NA 2504 0.2157 NA NA NA NA 0 G ARG/GLY 1149,3257 407.5+/-334.3 143,863,1197 61 62 62 235 -6.2 0.2 1 dbSNP_107 62 2113,6487 363.2+/-333.1 270,1573,2457 yes missense CELA2B NM_015849.2 125 413,2436,3654 AA,AG,GG 24.5698,26.0781,25.0807 benign 79/270 15808767 3262,9744 2203 4300 6503 SO:0001583 missense CCDS30605.1 1p36.21 2009-07-09 ENSG00000215704 ENSG00000215704 51032 29995 protein-coding gene gene with protein product pancreatic elastase IIB 609444 NA 3646943, 16327289 Standard NM_015849 NM_015849 NA Approved RP11-265F14.2, ELA2B uc001awl.3 P08218 OTTHUMG00000002259 ENST00000375910.3:c.235G>A chr1.hg19:g.15808767G>A ENSP00000365075:p.Gly79Arg NA Q14D16|Q6ISM5|Q96QV5 hg19 CCDS30605.1 0.02 13.948955 TCCxGGA COVERED 741 0.3392857142857143 121 0.2459349593495935 112 0.30939226519337015 311 0.5437062937062938 197 0.2598944591029024 G 0 -2.798414 0.00076 0.260781 0.245698 ENSG00000215704 ENST00000375910;ENST00000375909;ENST00000422901 D;D 0.90261 -2.35;-2.64 3.08 -6.17 0.02091 Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3); 0.574111 0.15655 N 0.251153 T 0.00012 0.0000 N 0.12887 0.27 0.80722 P 0.0 B 0.02656 0.0 B 0.04013 0.001 T 0.41484 -0.9506 9 0.02654 T 1 . 0.8149 0.01100 0.2489:0.3212:0.1134:0.3166 rs3820071;rs17214904;rs52801345;rs59821889;rs3820071 79 P08218 CEL2B_HUMAN R 79;86;98 ENSP00000365075:G79R;ENSP00000399811:G98R ENSP00000365074:G86R G + 1 0 CELA2B 15681354 0.000000 0.05858 0.173000 0.22940 0.003000 0.03518 -1.849000 0.01672 -0.954000 0.03640 -2.217000 0.00297 GGG NOVEL CELA2B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000006448.1 1 24.37422 KEEP 0 0 0 81 2668 GG 1 1 0 + 16 60 601 0 0 40.004586 311 60 10408 484 ENST00000375910.3 0.04893 1 CELA2B 51032 __UNKNOWN__ __UNKNOWN__ 1 15808872 15808872 __UNKNOWN__ Missense_Mutation SNP G G A rs3766160 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:15808872G>A ENST00000375910.3 + 4 365 c.340G>A c.(340-342)Gac>Aac p.D114N CELA2B_ENST00000494280.1_3'UTR NM_015849.2 NP_056933 P08218 CEL2B_HUMAN chymotrypsin-like elastase family, member 2B 114 Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}. NA D -> N (in dbSNP:rs3766160). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:3646943}. extracellular region (GO:0005576) serine-type endopeptidase activity (GO:0004252) breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1) 8 CTGGAACTCCGACCAGGTCTC 0.572 NA G||| 1578 0.315096 0.2769 0.2896 5008 , , NA 16447 0.5575 NA 0.2376 False NA ,,, NA NA NA 2504 0.2147 NA NA NA NA 0 G ASN/ASP 1151,3255 409.7+/-335.1 143,865,1195 117 114 115 340 0.5 0.1 1 dbSNP_107 115 2111,6489 363.7+/-333.3 269,1573,2458 yes missense CELA2B NM_015849.2 23 412,2438,3653 AA,AG,GG 24.5465,26.1235,25.0807 benign 114/270 15808872 3262,9744 2203 4300 6503 SO:0001583 missense CCDS30605.1 1p36.21 2009-07-09 ENSG00000215704 ENSG00000215704 51032 29995 protein-coding gene gene with protein product pancreatic elastase IIB 609444 NA 3646943, 16327289 Standard NM_015849 NM_015849 NA Approved RP11-265F14.2, ELA2B uc001awl.3 P08218 OTTHUMG00000002259 ENST00000375910.3:c.340G>A chr1.hg19:g.15808872G>A ENSP00000365075:p.Asp114Asn NA Q14D16|Q6ISM5|Q96QV5 hg19 CCDS30605.1 0.02 15.026837 TCCxACC COVERED 701 0.320970695970696 118 0.23983739837398374 85 0.23480662983425415 305 0.5332167832167832 193 0.2546174142480211 G 0.134 -1.110469 0.01813 0.261235 0.245465 ENSG00000215704 ENST00000375910 D 0.88818 -2.43 3.01 0.469 0.16741 Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3); 1.623510 0.03801 N 0.264463 T 0.00012 0.0000 N 0.04959 -0.14 0.80722 P 0.0 B 0.02656 0.0 B 0.04013 0.001 T 0.32981 -0.9886 9 0.02654 T 1 . 3.9956 0.09556 0.6422:0.2254:0.1324:0.0 rs3766160;rs52831934;rs61093493;rs3766160 114 P08218 CEL2B_HUMAN N 114 ENSP00000365075:D114N ENSP00000365075:D114N D + 1 0 CELA2B 15681459 0.000000 0.05858 0.073000 0.20177 0.080000 0.17528 0.067000 0.14510 -0.020000 0.14032 -0.532000 0.04303 GAC NOVEL CELA2B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000006448.1 1 20.50026 KEEP 0 1 31 79 2684 GG 1 1 0 + 17 60 591 0 0 37.221496 357 60 12887 562 ENST00000375910.3 0.045455 1 CELA2B 51032 __UNKNOWN__ __UNKNOWN__ 1 15809876 15809876 __UNKNOWN__ Silent SNP G G A rs10927792 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:15809876G>A ENST00000375910.3 + 5 499 c.474G>A c.(472-474)acG>acA p.T158T NM_015849.2 NP_056933 P08218 CEL2B_HUMAN chymotrypsin-like elastase family, member 2B 158 Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}. NA extracellular region (GO:0005576) serine-type endopeptidase activity (GO:0004252) breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1) 8 GCTACGTCACGGGCTGGGGAA 0.642 NA G||| 1734 0.346246 0.348 0.3545 5008 , , NA 19203 0.5694 NA 0.2416 False NA ,,, NA NA NA 2504 0.2157 NA NA NA NA 0 G 1419,2987 463.6+/-353.6 220,979,1004 70 64 66 474 -7.6 0.2 1 dbSNP_120 66 2111,6483 361.5+/-332.4 270,1571,2456 no coding-synonymous CELA2B NM_015849.2 490,2550,3460 AA,AG,GG 24.5636,32.2061,27.1538 158/270 15809876 3530,9470 2203 4297 6500 SO:0001819 synonymous_variant CCDS30605.1 1p36.21 2009-07-09 ENSG00000215704 ENSG00000215704 51032 29995 protein-coding gene gene with protein product pancreatic elastase IIB 609444 NA 3646943, 16327289 Standard NM_015849 NM_015849 NA Approved RP11-265F14.2, ELA2B uc001awl.3 P08218 OTTHUMG00000002259 ENST00000375910.3:c.474G>A chr1.hg19:g.15809876G>A NA Q14D16|Q6ISM5|Q96QV5 hg19 CCDS30605.1 0.02 6.797353 CACxGGC COVERED NOVEL CELA2B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000006448.1 0 16.25239 KEEP 53 0 0 54 1897 GG 0.999997 0.999997 0 + 9 60 315 0 0 20.081718 181 60 6298 368 ENST00000375910.3 0.047368 1 DNAJC16 23341 __UNKNOWN__ __UNKNOWN__ 1 15871128 15871128 __UNKNOWN__ Intron SNP C C T rs117099609 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:15871128C>T ENST00000375847.3 + 5 923 DNAJC16_ENST00000375838.1_Intron|DNAJC16_ENST00000375849.1_Intron NM_015291.2 NP_056106.1 Q9Y2G8 DJC16_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 16 NA NA cell redox homeostasis (GO:0045454) integral component of membrane (GO:0016021) central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1) 18 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657) TAAGAGGTACCTAGGACTGTT 0.378 NA C||| 67 0.0133786 0.0 0.0 5008 , , NA 18973 0.0565 NA 0.008 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 C 1,4405 2.1+/-5.4 0,1,2202 46 44 45 -3.4 0 1 dbSNP_132 45 16,8584 7.7+/-29.5 0,16,4284 no intron DNAJC16 NM_015291.2 0,17,6486 TT,TC,CC 0.186,0.0227,0.1307 15871128 17,12989 2203 4300 6503 SO:0001627 intron_variant AB023179 CCDS30606.1, CCDS72710.1 1p36.1 2011-09-02 ENSG00000116138 ENSG00000116138 23341 Heat shock proteins / DNAJ (HSP40) 29157 protein-coding gene gene with protein product NA Standard NM_015291 NM_015291 NA Approved KIAA0962 uc001aws.3 Q9Y2G8 OTTHUMG00000002358 ENST00000375847.3:c.759+50C>T chr1.hg19:g.15871128C>T NA Q68D57|Q86X32|Q8N5P4 hg19 CCDS30606.1 0.02 8.812436 TACxTAG COVERED NOVEL DNAJC16-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000006764.1 0 12.340403 KEEP 0 0 0 41 1488 CC 1 1 0 + 7 60 264 0 0 16.258841 214 60 8143 306 ENST00000375847.3 0.031674 1 AGMAT 79814 __UNKNOWN__ __UNKNOWN__ 1 15911349 15911349 __UNKNOWN__ Silent SNP G G A rs3737705 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:15911349G>A ENST00000375826.3 - 1 256 c.114C>T c.(112-114)gaC>gaT p.D38D DNAJC16_ENST00000483270.1_Intron NM_024758.4 NP_079034.3 Q9BSE5 SPEB_HUMAN agmatine ureohydrolase (agmatinase) 38 NA agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|putrescine biosynthetic process from arginine (GO:0033388)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295) extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739) agmatinase activity (GO:0008783)|metal ion binding (GO:0046872) endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1) 12 Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649) TCCGGGGCGCGTCGGAAGCCT 0.791 NA G||| 1691 0.33766 0.2685 0.3084 5008 , , NA 9254 0.5794 NA 0.2952 False NA ,,, NA NA NA 2504 0.2464 NA NA NA NSCLC(126;1678 1780 25805 43508 49531) NA 0 G 446,1872 44,358,757 2 3 3 114 -4.1 0 1 dbSNP_107 3 1412,4272 187,1038,1617 no coding-synonymous AGMAT NM_024758.4 231,1396,2374 AA,AG,GG 24.8417,19.2407,23.2192 38/353 15911349 1858,6144 1159 2842 4001 SO:0001819 synonymous_variant AY057097 CCDS160.1 1p36.13 2009-01-05 ENSG00000116771 ENSG00000116771 79814 18407 protein-coding gene gene with protein product NA 11804860, 14648699, 11914032 Standard NM_024758 NM_024758 NA Approved FLJ23384 uc001awv.2 Q9BSE5 OTTHUMG00000002357 ENST00000375826.3:c.114C>T chr1.hg19:g.15911349G>A NA Q5TDH1|Q9H5J3 hg19 CCDS160.1 0.02 1.725092 CGCxTCG COVERED NOVEL AGMAT-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000006763.1 1 10.232064 KEEP 0 0 0 34 1152 GG 0.999998 0.999724 0 - 6 60 218 0 0 15.183556 81 60 2837 148 ENST00000375826.3 0.068966 0.999726 AGMAT 79814 __UNKNOWN__ __UNKNOWN__ 1 15911597 15911597 __UNKNOWN__ 5'UTR SNP A A G rs6687585 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:15911597A>G ENST00000375826.3 - 0 8 DNAJC16_ENST00000483270.1_Intron NM_024758.4 NP_079034.3 Q9BSE5 SPEB_HUMAN agmatine ureohydrolase (agmatinase) NA NA agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|putrescine biosynthetic process from arginine (GO:0033388)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295) extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739) agmatinase activity (GO:0008783)|metal ion binding (GO:0046872) endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1) 12 Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649) GGGGCGCCCTAGGATCAAGGC 0.706 NA G||| 3171 0.633187 0.9024 0.5274 5008 , , NA 12490 0.6359 NA 0.5288 False NA ,,, NA NA NA 2504 0.4489 NA NA NA NSCLC(126;1678 1780 25805 43508 49531) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AY057097 CCDS160.1 1p36.13 2009-01-05 ENSG00000116771 ENSG00000116771 79814 18407 protein-coding gene gene with protein product NA 11804860, 14648699, 11914032 Standard NM_024758 NM_024758 NA Approved FLJ23384 uc001awv.2 Q9BSE5 OTTHUMG00000002357 ENST00000375826.3:c.-135T>C chr1.hg19:g.15911597A>G NA Q5TDH1|Q9H5J3 hg19 CCDS160.1 0.02 8.174235 CCTxGGA COVERED NOVEL AGMAT-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000006763.1 0 15.902475 KEEP 0 2 63 75 2187 AA 1 1 0 - 8 60 295 0 0 18.137434 229 60 7905 415 ENST00000375826.3 0.033755 1 SPEN 23013 __UNKNOWN__ __UNKNOWN__ 1 16242620 16242620 __UNKNOWN__ Intron SNP C C A rs12063905 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:16242620C>A ENST00000375759.3 + 6 1447 NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor NA NA negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032) extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053) nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714) NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) ATTCCACTTACAGAAACAGAA 0.328 NA C||| 604 0.120607 0.0212 0.2392 5008 , , NA 17163 0.2222 NA 0.0974 False NA ,,, NA NA NA 2504 0.09 NA NA NA NA 0 C 182,4224 114.6+/-152.6 6,170,2027 78 76 76 -1 0.8 1 dbSNP_120 76 870,7730 196.9+/-241.7 47,776,3477 no intron SPEN NM_015001.2 53,946,5504 AA,AC,CC 10.1163,4.1307,8.0886 16242620 1052,11954 2203 4300 6503 SO:0001627 intron_variant CCDS164.1 1p36 2013-10-17 2013-10-17 ENSG00000065526 ENSG00000065526 23013 RNA binding motif (RRM) containing 17575 protein-coding gene gene with protein product 613484 SPEN homolog, transcriptional regulator (Drosophila), spen homolog, transcriptional regulator (Drosophila) NA 10451362, 11331609 Standard NM_015001 NM_015001 NA Approved KIAA0929, MINT, SHARP, RBM15C uc001axk.1 Q96T58 OTTHUMG00000009376 ENST00000375759.3:c.1244-3C>A chr1.hg19:g.16242620C>A NA Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556 hg19 CCDS164.1 0.02 24.29379 TTAxAGA COVERED NOVEL SPEN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000025993.1 3 34.010901 KEEP 0 0 0 113 4003 CC 1 1 0 + 18 60 604 0 0 34.932549 548 60 20791 831 ENST00000375759.3 0.031802 1 SPEN 23013 __UNKNOWN__ __UNKNOWN__ 1 16245362 16245362 __UNKNOWN__ Intron SNP G G A rs848201 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:16245362G>A ENST00000375759.3 + 7 1599 NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor NA NA negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032) extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053) nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714) NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) TATGGACTTGGTTCATTCTAA 0.299 NA G||| 605 0.120807 0.0212 0.2392 5008 , , NA 17618 0.2222 NA 0.0984 False NA ,,, NA NA NA 2504 0.09 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS164.1 1p36 2013-10-17 2013-10-17 ENSG00000065526 ENSG00000065526 23013 RNA binding motif (RRM) containing 17575 protein-coding gene gene with protein product 613484 SPEN homolog, transcriptional regulator (Drosophila), spen homolog, transcriptional regulator (Drosophila) NA 10451362, 11331609 Standard NM_015001 NM_015001 NA Approved KIAA0929, MINT, SHARP, RBM15C uc001axk.1 Q96T58 OTTHUMG00000009376 ENST00000375759.3:c.1396-59G>A chr1.hg19:g.16245362G>A NA Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556 hg19 CCDS164.1 0.02 2.047326 TTGxTTC COVERED NOVEL SPEN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000025993.1 1 3.310768 KEEP 0 0 0 11 388 GG 0.993072 0.990985 0 + 4 60 149 0 0 10.076558 69 60 2480 94 ENST00000375759.3 0.054795 0.997898 SPEN 23013 __UNKNOWN__ __UNKNOWN__ 1 16260916 16260916 __UNKNOWN__ Silent SNP C C T rs848211 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:16260916C>T ENST00000375759.3 + 11 8385 c.8181C>T c.(8179-8181)gcC>gcT p.A2727A NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 2727 Interaction with RBPSUH. {ECO:0000250}. NA negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032) extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053) nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714) NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) CAGTCAATGCCGCTGCGAGTG 0.592 NA C||| 607 0.121206 0.0212 0.2406 5008 , , NA 19485 0.2232 NA 0.0984 False NA ,,, NA NA NA 2504 0.09 NA NA NA NA 0 C 189,4217 119.2+/-156.9 6,177,2020 79 75 76 8181 -5.5 0 1 dbSNP_86 76 870,7730 197.6+/-242.2 47,776,3477 no coding-synonymous SPEN NM_015001.2 53,953,5497 TT,TC,CC 10.1163,4.2896,8.1424 2727/3665 16260916 1059,11947 2203 4300 6503 SO:0001819 synonymous_variant CCDS164.1 1p36 2013-10-17 2013-10-17 ENSG00000065526 ENSG00000065526 23013 RNA binding motif (RRM) containing 17575 protein-coding gene gene with protein product 613484 SPEN homolog, transcriptional regulator (Drosophila), spen homolog, transcriptional regulator (Drosophila) NA 10451362, 11331609 Standard NM_015001 NM_015001 NA Approved KIAA0929, MINT, SHARP, RBM15C uc001axk.1 Q96T58 OTTHUMG00000009376 ENST00000375759.3:c.8181C>T chr1.hg19:g.16260916C>T NA Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556 hg19 CCDS164.1 0.02 10.92415 TGCxGCT COVERED NOVEL SPEN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000025993.1 2 25.114093 KEEP 0 1 33 95 3259 CC 1 1 0 + 9 60 341 0 0 21.353987 255 60 8838 452 ENST00000375759.3 0.034091 1 SPEN 23013 __UNKNOWN__ __UNKNOWN__ 1 16262404 16262404 __UNKNOWN__ Silent SNP C C T rs61749277 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:16262404C>T ENST00000375759.3 + 11 9873 c.9669C>T c.(9667-9669)agC>agT p.S3223S NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 3223 Pro-rich. NA negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032) extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053) nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714) NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) CACCAGCCAGCAAGGCCCCTC 0.667 NA C||| 607 0.121206 0.0212 0.2392 5008 , , NA 10601 0.2242 NA 0.0984 False NA ,,, NA NA NA 2504 0.09 NA NA NA NA 0 C 169,4229 5,159,2035 28 30 29 9669 5.1 1 1 dbSNP_129 29 820,7756 41,738,3509 no coding-synonymous SPEN NM_015001.2 46,897,5544 TT,TC,CC 9.5616,3.8427,7.6229 3223/3665 16262404 989,11985 2199 4288 6487 SO:0001819 synonymous_variant CCDS164.1 1p36 2013-10-17 2013-10-17 ENSG00000065526 ENSG00000065526 23013 RNA binding motif (RRM) containing 17575 protein-coding gene gene with protein product 613484 SPEN homolog, transcriptional regulator (Drosophila), spen homolog, transcriptional regulator (Drosophila) NA 10451362, 11331609 Standard NM_015001 NM_015001 NA Approved KIAA0929, MINT, SHARP, RBM15C uc001axk.1 Q96T58 OTTHUMG00000009376 ENST00000375759.3:c.9669C>T chr1.hg19:g.16262404C>T NA Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556 hg19 CCDS164.1 0.02 1.748367 CAGxAAG COVERED NOVEL SPEN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000025993.1 3 8.426059 KEEP 0 0 0 28 977 CC 0.999997 0.997895 0 + 4 60 135 0 0 8.679901 69 70 2513 113 ENST00000375759.3 0.054795 0.997898 SPEN 23013 __UNKNOWN__ __UNKNOWN__ 1 16264264 16264264 __UNKNOWN__ Intron SNP G G A rs848213 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:16264264G>A ENST00000375759.3 + 13 10713 NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor NA NA negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032) extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053) nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714) NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) ATGGCTCAGCGAGGGGCCATG 0.547 NA G||| 636 0.126997 0.0348 0.2392 5008 , , NA 21469 0.2242 NA 0.1103 False NA ,,, NA NA NA 2504 0.089 NA NA NA NA 0 G 198,4208 123.3+/-160.7 3,192,2008 83 83 83 -4.6 0 1 dbSNP_86 83 954,7646 209.1+/-250.4 53,848,3399 no intron SPEN NM_015001.2 56,1040,5407 AA,AG,GG 11.093,4.4939,8.8575 16264264 1152,11854 2203 4300 6503 SO:0001627 intron_variant CCDS164.1 1p36 2013-10-17 2013-10-17 ENSG00000065526 ENSG00000065526 23013 RNA binding motif (RRM) containing 17575 protein-coding gene gene with protein product 613484 SPEN homolog, transcriptional regulator (Drosophila), spen homolog, transcriptional regulator (Drosophila) NA 10451362, 11331609 Standard NM_015001 NM_015001 NA Approved KIAA0929, MINT, SHARP, RBM15C uc001axk.1 Q96T58 OTTHUMG00000009376 ENST00000375759.3:c.10510-43G>A chr1.hg19:g.16264264G>A NA Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556 hg19 CCDS164.1 0.02 10.328148 AGCxAGG COVERED NOVEL SPEN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000025993.1 3 20.461308 KEEP 0 0 0 68 2199 GG 1 1 0 + 10 60 358 0 0 22.058353 257 60 8770 392 ENST00000375759.3 0.037453 1 CLCNKA 1187 __UNKNOWN__ __UNKNOWN__ 1 16354590 16354590 __UNKNOWN__ Missense_Mutation SNP A A T rs12126269 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:16354590A>T ENST00000331433.4 + 10 963 c.944A>T c.(943-945)tAc>tTc p.Y315F CLCNKA_ENST00000439316.2_Missense_Mutation_p.Y272F|CLCNKA_ENST00000420078.1_Missense_Mutation_p.Y315F|CLCNKA_ENST00000375692.1_Missense_Mutation_p.Y315F|CLCNKA_ENST00000464764.1_3'UTR P51800 CLCKA_HUMAN chloride channel, voltage-sensitive Ka 315 NA Y -> F (in dbSNP:rs12126269). {ECO:0000269|PubMed:15489334}. excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810) chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247) breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1) 19 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) Niflumic Acid(DB04552) ACCAATCGGTACAGCTCCAAA 0.562 NA T||| 774 0.154553 0.1014 0.196 5008 , , NA 16650 0.2123 NA 0.1879 False NA ,,, NA NA NA 2504 0.1033 NA NA NA NA 0 T PHE/TYR,PHE/TYR 587,3817 771.2+/-413.8 35,517,1650 160 124 136 944,944 2.2 0.1 1 dbSNP_120 136 1855,6745 729.7+/-406.7 221,1413,2666 yes missense,missense CLCNKA NM_001042704.1,NM_004070.3 22,22 256,1930,4316 TT,TA,AA 21.5698,13.3288,18.7788 benign,benign 315/687,315/688 16354590 2442,10562 2202 4300 6502 SO:0001583 missense CCDS167.1, CCDS41269.1, CCDS57973.1 1p36 2012-09-26 2012-02-23 ENSG00000186510 ENSG00000186510 1187 Ion channels / Chloride channels : Voltage-sensitive 2026 protein-coding gene gene with protein product 602024 chloride channel Ka NA 8544406 Standard NM_004070 NA Approved hClC-Ka uc001axu.3 P51800 OTTHUMG00000009529 ENST00000331433.4:c.944A>T chr1.hg19:g.16354590A>T ENSP00000332771:p.Tyr315Phe NA B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1 hg19 CCDS167.1 0.02 9.724874 GGTxCAG COVERED 398 0.18223443223443223 52 0.10569105691056911 70 0.19337016574585636 131 0.229020979020979 145 0.19129287598944592 T 0.587 -0.834613 0.02713 0.133288 0.215698 ENSG00000186510 ENST00000375692;ENST00000420078;ENST00000439316;ENST00000331433 D;D;D;D 0.84370 -1.77;-1.77;-1.84;-1.77 3.3 2.18 0.27775 Chloride channel, core (2); 1.288350 0.05059 N 0.479536 T 0.00039 0.0001 N 0.01438 -0.865 0.80722 P 0.0 B;B;B 0.02656 0.0;0.0;0.0 B;B;B 0.04013 0.0;0.001;0.0 T 0.09509 -1.0671 9 0.09843 T 0.71 . 4.9674 0.14098 0.1662:0.0997:0.0:0.7342 rs12126269;rs17846434;rs17857433;rs17859483;rs12126269 272;315;315 E7EPH6;Q5T5Q4;P51800 .;.;CLCKA_HUMAN F 315;315;272;315 ENSP00000364844:Y315F;ENSP00000410353:Y315F;ENSP00000414445:Y272F;ENSP00000332771:Y315F ENSP00000332771:Y315F Y + 2 0 CLCNKA 16227177 0.015000 0.18098 0.115000 0.21578 0.382000 0.30200 1.906000 0.39887 0.451000 0.26802 -0.827000 0.03088 TAC NOVEL CLCNKA-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000026326.1 1 30.379894 KEEP 0 0 0 101 2964 AA 1 1 0 + 8 60 282 0 0 16.166271 279 70 9874 486 ENST00000331433.4 0.027875 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 16360550 16360550 __UNKNOWN__ IGR SNP C C G rs7365925 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:16360550C>G NA NA CLCNKA (5 upstream) : CLCNKB (9721 downstream) NA NA NA CCCAGAGCTGCTGTCCATCCC 0.577 NA c||| 1985 0.396366 0.2451 0.2882 5008 , , NA 9404 0.8542 NA 0.3549 False NA ,,, NA NA NA 2504 0.2485 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.16360550C>G NA hg19 0.02 6.011613 CTGxTGT COVERED NOVEL 0 2 14.747958 KEEP 9 0 0 49 1749 CC 1 1 0 6 49 219 0 0 13.388269 171 60 6487 264 0.033898 1 CLCNKB 1188 __UNKNOWN__ __UNKNOWN__ 1 16375210 16375210 __UNKNOWN__ Intron SNP G G A rs9633514 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:16375210G>A ENST00000375679.4 + 7 766 NM_000085.4 NP_000076.2 P51801 CLCKB_HUMAN chloride channel, voltage-sensitive Kb NA NA excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810) chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1) 21 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) CCCCGCCTTGGGCACAGCCAC 0.622 NA G||| 1788 0.357029 0.0696 0.3573 5008 , , NA 12359 0.6915 NA 0.3678 False NA ,,, NA NA NA 2504 0.3896 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK098217 CCDS168.1, CCDS57974.1 1p36 2012-09-26 2012-02-23 ENSG00000184908 ENSG00000184908 1188 Ion channels / Chloride channels : Voltage-sensitive 2027 protein-coding gene gene with protein product 602023 chloride channel Kb NA Standard NM_000085 NM_000085 NA Approved hClC-Kb P51801 OTTHUMG00000009530 ENST00000375679.4:c.655+133G>A chr1.hg19:g.16375210G>A NA B3KUY3|Q5T5Q7|Q5T5Q8 hg19 CCDS168.1 0.02 1.804981 TTGxGCA COVERED NOVEL CLCNKB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000026331.1 0 6.555138 KEEP 0 0 0 22 708 GG 0.999879 0.998872 0 + 4 60 145 0 0 9.56155 74 60 2633 109 ENST00000375679.4 0.051282 0.998993 CLCNKB 1188 __UNKNOWN__ __UNKNOWN__ 1 16381816 16381816 __UNKNOWN__ Intron SNP C C T rs12029508 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:16381816C>T ENST00000375679.4 + 17 1867 CLCNKB_ENST00000375667.3_Intron NM_000085.4 NP_000076.2 P51801 CLCKB_HUMAN chloride channel, voltage-sensitive Kb NA NA excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810) chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1) 21 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) tgacaatagtcacaatagccc 0.478 NA T||| 2293 0.457867 0.2474 0.3703 5008 , , NA 20025 0.8026 NA 0.4463 False NA ,,, NA NA NA 2504 0.4611 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK098217 CCDS168.1, CCDS57974.1 1p36 2012-09-26 2012-02-23 ENSG00000184908 ENSG00000184908 1188 Ion channels / Chloride channels : Voltage-sensitive 2027 protein-coding gene gene with protein product 602023 chloride channel Kb NA Standard NM_000085 NM_000085 NA Approved hClC-Kb P51801 OTTHUMG00000009530 ENST00000375679.4:c.1757-114C>T chr1.hg19:g.16381816C>T NA B3KUY3|Q5T5Q7|Q5T5Q8 hg19 CCDS168.1 0.02 3.640143 AGTxACA COVERED NOVEL CLCNKB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000026331.1 1 10.834298 KEEP 0 0 0 36 1225 CC 0.999999 0.999999 0 + 8 60 275 0 0 17.981773 133 60 4931 210 ENST00000375679.4 0.056738 1 SPATA21 374955 __UNKNOWN__ __UNKNOWN__ 1 16730308 16730308 __UNKNOWN__ Missense_Mutation SNP G G T rs41269193 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:16730308G>T ENST00000335496.1 - 10 1397 c.915C>A c.(913-915)caC>caA p.H305Q SPATA21_ENST00000466212.1_5'UTR|SPATA21_ENST00000540400.1_Missense_Mutation_p.H282Q NM_198546.1 NP_940948.1 Q7Z572 SPT21_HUMAN spermatogenesis associated 21 305 NA calcium ion binding (GO:0005509) p.H305Q(1) breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2) 19 Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651) TGTGGGGGTTGTGGGGAGCCA 0.572 NA G||| 256 0.0511182 0.0061 0.0677 5008 , , NA 17205 0.0685 NA 0.0736 False NA ,,, NA NA NA 2504 0.0593 NA NA NA NA 1 Substitution - Missense(1) stomach(1) G GLN/HIS 66,4340 62.3+/-99.4 2,62,2139 88 90 89 915 -4 0.4 1 dbSNP_127 89 583,8017 155.7+/-209.7 29,525,3746 yes missense SPATA21 NM_198546.1 24 31,587,5885 TT,TG,GG 6.7791,1.498,4.99 benign 305/470 16730308 649,12357 2203 4300 6503 SO:0001583 missense CCDS172.1 1p36.13 2013-01-10 ENSG00000187144 ENSG00000187144 374955 EF-hand domain containing 28026 protein-coding gene gene with protein product NA Standard NM_198546 NM_198546 NA Approved spergen-2, spergen2 uc001ayn.3 Q7Z572 OTTHUMG00000002312 ENST00000335496.1:c.915C>A chr1.hg19:g.16730308G>T ENSP00000335612:p.His305Gln NA B9EK40|F5GXP5 hg19 CCDS172.1 0.02 11.948052 GTTxTGG COVERED 124 0.056776556776556776 4 0.008130081300813009 29 0.08011049723756906 39 0.06818181818181818 52 0.06860158311345646 G 9.308 1.054863 0.19907 0.01498 0.067791 ENSG00000187144 ENST00000491418;ENST00000335496;ENST00000540400 T;T;T 0.62788 1.03;0.0;-0.0 4.84 -4.0 0.04057 . 1.010520 0.07943 N 0.979693 T 0.02767 0.0083 N 0.22421 0.69 0.09310 N 1 B;B 0.29805 0.257;0.167 B;B 0.26864 0.074;0.034 T 0.03773 -1.1005 10 0.30078 T 0.28 -1.0246 8.3285 0.32171 0.0:0.1622:0.5541:0.2837 rs41269193 282;305 F5GXP5;Q7Z572 .;SPT21_HUMAN Q 13;305;282 ENSP00000420753:H13Q;ENSP00000335612:H305Q;ENSP00000440046:H282Q ENSP00000335612:H305Q H - 3 2 SPATA21 16602895 0.084000 0.21492 0.360000 0.25837 0.924000 0.55760 -0.795000 0.04580 -0.546000 0.06216 -0.410000 0.06199 CAC NOVEL SPATA21-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000006677.2 2 17.390592 KEEP 0 0 0 58 1953 GG 1 1 0 - 11 60 370 0 0 21.567112 328 60 11790 506 ENST00000335496.1 0.032448 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 16862294 16862294 __UNKNOWN__ IGR SNP A A G rs71259516 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:16862294A>G NA NA U1 (1575 upstream) : AL355149.2 (3266 downstream) NA NA NA GGAAACCGAGACGGGCTGGAT 0.607 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.16862294A>G NA hg19 0.02 18.030034 GAGxCGG COVERED NOVEL 0 3 8.631263 KEEP 90 3 113 68 2121 AA 1 1 0 40 49 1397 0 0 101.498999 379 60 12939 599 0.095465 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 16862472 16862472 __UNKNOWN__ IGR SNP G G C rs200621127 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:16862472G>C NA NA U1 (1753 upstream) : AL355149.2 (3088 downstream) NA NA NA tttttcctcagatccaagagc 0.527 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.16862472G>C NA hg19 0.02 42.915814 TCAxATC COVERED . . . . . . . . . . g 3.046 -0.196522 0.06259 . . ENSG00000197511 ENST00000357301 . . . 0.425 -0.851 0.10716 . . . . . T 0.18045 0.0433 N 0.08118 0 . . . . . . . . . T 0.23226 -1.0194 4 0.87932 D 0 . . . . . . . . H 65 . ENSP00000349853:D65H D + 1 0 AL355149.1 16735059 0.000000 0.05858 0.002000 0.10522 0.002000 0.02628 -0.886000 0.04157 -0.571000 0.06014 -1.277000 0.01392 GAT NOVEL 0 7 42.845145 KEEP 64 42 1490 662 23446 GG 1 1 0 29 49 1112 0 0 72.073243 703 50 26840 1952 0.039617 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 16862566 16862566 __UNKNOWN__ IGR SNP G G A rs77197089 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:16862566G>A NA NA U1 (1847 upstream) : AL355149.2 (2994 downstream) NA NA NA TCTGCGGAATGGCTACTTCGG 0.562 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.16862566G>A NA hg19 0.02 40.266182 AATxGCT COVERED . . . . . . . . . . g 11.37 1.619763 0.28801 . . ENSG00000197511 ENST00000357301 . . . 0.109 0.109 0.14578 . . . . . . . . . . . . . . . . . . . . . . . . 0.02654 T 1 . . . . . . . . X 96 . ENSP00000349853:W96X W + 2 0 AL355149.1 16735153 0.002000 0.14202 0.082000 0.20525 0.060000 0.15804 -1.298000 0.02756 0.181000 0.19994 0.184000 0.17185 TGG NOVEL 0 8 19.365805 KEEP 55 35 1063 438 15364 GG 1 1 0 60 60 2237 0 0 157.756444 803 60 30139 1658 0.069525 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 16862638 16862638 __UNKNOWN__ IGR SNP A A G rs369070338 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:16862638A>G NA NA U1 (1919 upstream) : AL355149.2 (2922 downstream) NA NA NA gcctccgctgactagatacat 0.607 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.16862638A>G NA hg19 0.02 32.712228 CTGxCTA COVERED NOVEL 0 6 12.053623 KEEP 90 11 383 174 5049 AA 1 1 0 58 60 2187 0 0 163.012582 556 60 19168 1112 0.094463 1 NBPF1 55672 __UNKNOWN__ __UNKNOWN__ 1 16889529 16889529 __UNKNOWN__ 3'UTR SNP T T C rs698877 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:16889529T>C ENST00000430580.2 - 0 5216 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 NA NA cytoplasm (GO:0005737) NA UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) aaTGCAGCTATATTATCTTTT 0.353 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB051480 1p36.13 2013-01-30 ENSG00000219481 ENSG00000219481 55672 neuroblastoma breakpoint family 26088 protein-coding gene gene with protein product 610501 NA 11214970, 16079250 Standard NM_017940 NM_017940 NA Approved FLJ20719, KIAA1693 uc001ayw.4 Q3BBV0 OTTHUMG00000002487 ENST00000430580.2:c.*909A>G chr1.hg19:g.16889529T>C NA Q8N4E8|Q9C0H0 hg19 0.02 6.923371 CTAxATT COVERED NOVEL NBPF1-005 NOVEL upstream_uORF|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000106436.3 8 21.359468 KEEP 6 0 0 71 2122 TT 1 1 0 - 14 40 521 0 0 37.18386 173 60 6155 302 ENST00000430580.2 0.074866 1 NBPF1 55672 __UNKNOWN__ __UNKNOWN__ 1 16890639 16890639 __UNKNOWN__ Silent SNP C C T rs1043750 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:16890639C>T ENST00000430580.2 - 29 4106 c.3219G>A c.(3217-3219)ttG>ttA p.L1073L NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 1053 NBPF 7. {ECO:0000255|PROSITE- ProRule:PRU00647}. NA cytoplasm (GO:0005737) NA UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) GTGAGTCCTGCAAGACTTCAG 0.468 NA NA NA NA NA NA NA NA NA NA NA 0 467 377 408 NA NA 1 NA 16890639 2203 4299 6502 SO:0001819 synonymous_variant AB051480 1p36.13 2013-01-30 ENSG00000219481 ENSG00000219481 55672 neuroblastoma breakpoint family 26088 protein-coding gene gene with protein product 610501 NA 11214970, 16079250 Standard NM_017940 NM_017940 NA Approved FLJ20719, KIAA1693 uc001ayw.4 Q3BBV0 OTTHUMG00000002487 ENST00000430580.2:c.3219G>A chr1.hg19:g.16890639C>T NA Q8N4E8|Q9C0H0 hg19 0.02 1.859796 CTGxAAG COVERED NOVEL NBPF1-005 NOVEL upstream_uORF|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000106436.3 3 3.345268 KEEP 1 1 31 22 764 CC 0.999892 0.99938 0 - 5 40 164 0 0 11.066296 62 60 2371 124 ENST00000430580.2 0.074627 0.999487 NBPF1 55672 __UNKNOWN__ __UNKNOWN__ 1 16891905 16891905 __UNKNOWN__ Intron SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:16891905G>A ENST00000430580.2 - 27 3952 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 NA NA cytoplasm (GO:0005737) NA UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) GAATCAGAGTGCCACAGGCAT 0.453 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB051480 1p36.13 2013-01-30 ENSG00000219481 ENSG00000219481 55672 neuroblastoma breakpoint family 26088 protein-coding gene gene with protein product 610501 NA 11214970, 16079250 Standard NM_017940 NM_017940 NA Approved FLJ20719, KIAA1693 uc001ayw.4 Q3BBV0 OTTHUMG00000002487 ENST00000430580.2:c.3064+222C>T chr1.hg19:g.16891905G>A NA Q8N4E8|Q9C0H0 hg19 0.02 6.102615 AGTxCCA COVERED NOVEL NBPF1-005 NOVEL upstream_uORF|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000106436.3 0 5.350391 KEEP 10 1 23 26 891 GG 0.999988 0.999988 0 - 6 40 216 0 0 13.074099 172 41 6577 224 ENST00000430580.2 0.033708 1 NBPF1 55672 __UNKNOWN__ __UNKNOWN__ 1 16891956 16891956 __UNKNOWN__ Intron SNP C C T rs3872312 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:16891956C>T ENST00000430580.2 - 27 3952 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 NA NA cytoplasm (GO:0005737) NA UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) CTGACCCATCCCATGTCTGGG 0.493 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB051480 1p36.13 2013-01-30 ENSG00000219481 ENSG00000219481 55672 neuroblastoma breakpoint family 26088 protein-coding gene gene with protein product 610501 NA 11214970, 16079250 Standard NM_017940 NM_017940 NA Approved FLJ20719, KIAA1693 uc001ayw.4 Q3BBV0 OTTHUMG00000002487 ENST00000430580.2:c.3064+171G>A chr1.hg19:g.16891956C>T NA Q8N4E8|Q9C0H0 hg19 0.02 13.137489 ATCxCAT COVERED NOVEL NBPF1-005 NOVEL upstream_uORF|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000106436.3 2 5.59021 KEEP 6 5 152 72 2517 CC 1 1 0 - 9 60 332 0 0 19.72034 309 60 11480 496 ENST00000430580.2 0.028302 1 NBPF1 55672 __UNKNOWN__ __UNKNOWN__ 1 16892060 16892060 __UNKNOWN__ Intron SNP G G C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:16892060G>C ENST00000430580.2 - 27 3952 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 NA NA cytoplasm (GO:0005737) NA UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TGGCCACTTGGAGCAGGAATA 0.438 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB051480 1p36.13 2013-01-30 ENSG00000219481 ENSG00000219481 55672 neuroblastoma breakpoint family 26088 protein-coding gene gene with protein product 610501 NA 11214970, 16079250 Standard NM_017940 NM_017940 NA Approved FLJ20719, KIAA1693 uc001ayw.4 Q3BBV0 OTTHUMG00000002487 ENST00000430580.2:c.3064+67C>G chr1.hg19:g.16892060G>C NA Q8N4E8|Q9C0H0 hg19 0.02 13.930815 TTGxAGC COVERED NOVEL NBPF1-005 NOVEL upstream_uORF|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000106436.3 3 20.802745 KEEP 7 1 34 81 2840 GG 1 1 0 - 22 41 829 0 0 58.304669 308 60 11528 519 ENST00000430580.2 0.066667 1 NBPF1 55672 __UNKNOWN__ __UNKNOWN__ 1 16893784 16893784 __UNKNOWN__ Missense_Mutation SNP C C A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:16893784C>A ENST00000430580.2 - 25 3616 c.2729G>T c.(2728-2730)tGt>tTt p.C910F NBPF1_ENST00000420031.2_3'UTR|NBPF1_ENST00000432949.1_3'UTR NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 910 NBPF 5. {ECO:0000255|PROSITE- ProRule:PRU00647}. NA cytoplasm (GO:0005737) NA UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) AGTTGAATAACATCTATCCAG 0.493 NA NA NA NA NA NA NA NA NA NA NA 0 538 483 502 NA NA 1 NA 16893784 2203 4298 6501 SO:0001583 missense AB051480 1p36.13 2013-01-30 ENSG00000219481 ENSG00000219481 55672 neuroblastoma breakpoint family 26088 protein-coding gene gene with protein product 610501 NA 11214970, 16079250 Standard NM_017940 NM_017940 NA Approved FLJ20719, KIAA1693 uc001ayw.4 Q3BBV0 OTTHUMG00000002487 ENST00000430580.2:c.2729G>T chr1.hg19:g.16893784C>A ENSP00000474456:p.Cys910Phe NA Q8N4E8|Q9C0H0 hg19 0.02 8.912142 TAAxATC COVERED NOVEL NBPF1-005 NOVEL upstream_uORF|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000106436.3 3 4.51815 KEEP 1 3 85 45 1621 CC 1 1 0 - 7 59 263 0 0 16.159114 214 60 8270 354 ENST00000430580.2 0.031674 1 NBPF1 55672 __UNKNOWN__ __UNKNOWN__ 1 16894580 16894580 __UNKNOWN__ Intron SNP A A G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:16894580A>G ENST00000430580.2 - 24 3502 NBPF1_ENST00000420031.2_Intron|NBPF1_ENST00000432949.1_Intron NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 NA NA cytoplasm (GO:0005737) NA UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) CCTTGCACACAGAAACATTCC 0.463 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB051480 1p36.13 2013-01-30 ENSG00000219481 ENSG00000219481 55672 neuroblastoma breakpoint family 26088 protein-coding gene gene with protein product 610501 NA 11214970, 16079250 Standard NM_017940 NM_017940 NA Approved FLJ20719, KIAA1693 uc001ayw.4 Q3BBV0 OTTHUMG00000002487 ENST00000430580.2:c.2615-55T>C chr1.hg19:g.16894580A>G NA Q8N4E8|Q9C0H0 hg19 0.02 3.979567 CACxGAA COVERED NOVEL NBPF1-005 NOVEL upstream_uORF|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000106436.3 0 9.362551 KEEP 22 1 31 42 1333 AA 0.999998 0.999998 0 - 5 21 180 0 0 11.290337 119 60 4507 233 ENST00000430580.2 0.040323 0.999999 NBPF1 55672 __UNKNOWN__ __UNKNOWN__ 1 16901710 16901710 __UNKNOWN__ Missense_Mutation SNP C C G rs3901680 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:16901710C>G ENST00000430580.2 - 20 3021 c.2134G>C c.(2134-2136)Gac>Cac p.D712H NBPF1_ENST00000287968.8_Missense_Mutation_p.D77H|NBPF1_ENST00000432949.1_Missense_Mutation_p.D170H NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 712 NBPF 3. {ECO:0000255|PROSITE- ProRule:PRU00647}. NA H -> D (in dbSNP:rs3901680). {ECO:0000269|PubMed:11214970, ECO:0000269|PubMed:15489334}. cytoplasm (GO:0005737) NA UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTCATCGTCATCGTTGTCA 0.433 NA NA NA NA NA NA NA NA NA NA NA 0 149 176 166 NA NA 1 NA 16901710 1472 2576 4048 SO:0001583 missense AB051480 1p36.13 2013-01-30 ENSG00000219481 ENSG00000219481 55672 neuroblastoma breakpoint family 26088 protein-coding gene gene with protein product 610501 NA 11214970, 16079250 Standard NM_017940 NM_017940 NA Approved FLJ20719, KIAA1693 uc001ayw.4 Q3BBV0 OTTHUMG00000002487 ENST00000430580.2:c.2134G>C chr1.hg19:g.16901710C>G ENSP00000474456:p.Asp712His NA Q8N4E8|Q9C0H0 hg19 0.02 -0.131599 CGTxATC UNCOVERED NOVEL NBPF1-005 NOVEL upstream_uORF|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000106436.3 1 3.009635 KEEP 18 0 0 10 358 CC 0 0 0 - 3 23 112 0 0 9.472411 11 46 405 47 ENST00000430580.2 0.214286 0.229173 NBPF1 55672 __UNKNOWN__ __UNKNOWN__ 1 16902784 16902784 __UNKNOWN__ Silent SNP G G A rs372301032 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:16902784G>A ENST00000430580.2 - 19 2984 c.2097C>T c.(2095-2097)caC>caT p.H699H NBPF1_ENST00000287968.8_Silent_p.H64H|NBPF1_ENST00000432949.1_Silent_p.H157H NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 699 NA QLF -> HLV (in Ref. 2; BAB21784 and 3; AAH34418). {ECO:0000305}. cytoplasm (GO:0005737) NA UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TTTGGACAAGGTGCTGTGCCA 0.567 NA NA NA NA NA NA NA NA NA NA NA 0 145 157 153 NA NA 1 NA 16902784 1511 2701 4212 SO:0001819 synonymous_variant AB051480 1p36.13 2013-01-30 ENSG00000219481 ENSG00000219481 55672 neuroblastoma breakpoint family 26088 protein-coding gene gene with protein product 610501 NA 11214970, 16079250 Standard NM_017940 NM_017940 NA Approved FLJ20719, KIAA1693 uc001ayw.4 Q3BBV0 OTTHUMG00000002487 ENST00000430580.2:c.2097C>T chr1.hg19:g.16902784G>A NA Q8N4E8|Q9C0H0 hg19 0.02 4.561517 AAGxTGC COVERED NOVEL NBPF1-005 NOVEL upstream_uORF|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000106436.3 1 7.197613 KEEP 13 1 37 37 1258 GT 1 1 0 - 8 40 264 0 0 17.544408 116 47 4279 227 ENST00000430580.2 0.064516 1 NBPF1 55672 __UNKNOWN__ __UNKNOWN__ 1 16902844 16902844 __UNKNOWN__ Missense_Mutation SNP G G T rs199969012 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:16902844G>T ENST00000430580.2 - 19 2924 c.2037C>A c.(2035-2037)gaC>gaA p.D679E NBPF1_ENST00000287968.8_Missense_Mutation_p.D44E|NBPF1_ENST00000432949.1_Missense_Mutation_p.D137E NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 679 NA cytoplasm (GO:0005737) NA UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) CCTGGGACTTGTCTGGCTCAT 0.582 NA NA NA NA NA NA NA NA NA NA NA 0 373 406 394 NA NA 1 NA 16902844 1511 2708 4219 SO:0001583 missense AB051480 1p36.13 2013-01-30 ENSG00000219481 ENSG00000219481 55672 neuroblastoma breakpoint family 26088 protein-coding gene gene with protein product 610501 NA 11214970, 16079250 Standard NM_017940 NM_017940 NA Approved FLJ20719, KIAA1693 uc001ayw.4 Q3BBV0 OTTHUMG00000002487 ENST00000430580.2:c.2037C>A chr1.hg19:g.16902844G>T ENSP00000474456:p.Asp679Glu NA Q8N4E8|Q9C0H0 hg19 0.02 6.73853 CTTxTCT COVERED NOVEL NBPF1-005 NOVEL upstream_uORF|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000106436.3 2 6.0264 KEEP 17 3 88 51 1873 GG 1 1 0 - 12 47 436 0 0 31.316121 134 60 5139 295 ENST00000430580.2 0.082192 1 NBPF1 55672 __UNKNOWN__ __UNKNOWN__ 1 16910063 16910063 __UNKNOWN__ Intron SNP C C T rs3872319 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:16910063C>T ENST00000430580.2 - 13 1979 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 NA NA cytoplasm (GO:0005737) NA UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) GCTGCTCCCCCACCTGCCCCC 0.582 NA .||| 2 0.000399361 0.0 0.0 5008 , , NA 40234 0.001 NA 0.001 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 149 166 160 NA NA 1 NA 16910063 1174 2369 3543 SO:0001627 intron_variant AB051480 1p36.13 2013-01-30 ENSG00000219481 ENSG00000219481 55672 neuroblastoma breakpoint family 26088 protein-coding gene gene with protein product 610501 NA 11214970, 16079250 Standard NM_017940 NM_017940 NA Approved FLJ20719, KIAA1693 uc001ayw.4 Q3BBV0 OTTHUMG00000002487 ENST00000430580.2:c.1091+25G>A chr1.hg19:g.16910063C>T NA Q8N4E8|Q9C0H0 hg19 0.02 2.032051 CCCxACC COVERED NOVEL NBPF1-005 NOVEL upstream_uORF|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000106436.3 0 2.40739 KEEP 7 0 0 8 261 CC 0.99257 0.960237 0 - 6 32 218 0 0 16.587551 46 60 1647 68 ENST00000430580.2 0.115385 0.967425 NBPF1 55672 __UNKNOWN__ __UNKNOWN__ 1 16913101 16913101 __UNKNOWN__ Intron SNP C C G rs28759199 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:16913101C>G ENST00000430580.2 - 11 1666 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 NA NA cytoplasm (GO:0005737) NA UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) cccggcctcccaaagtgctgg 0.493 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB051480 1p36.13 2013-01-30 ENSG00000219481 ENSG00000219481 55672 neuroblastoma breakpoint family 26088 protein-coding gene gene with protein product 610501 NA 11214970, 16079250 Standard NM_017940 NM_017940 NA Approved FLJ20719, KIAA1693 uc001ayw.4 Q3BBV0 OTTHUMG00000002487 ENST00000430580.2:c.778+443G>C chr1.hg19:g.16913101C>G NA Q8N4E8|Q9C0H0 hg19 0.02 -0.166687 TCCxAAA COVERED NOVEL NBPF1-005 NOVEL upstream_uORF|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000106436.3 6 3.246621 KEEP 3 1 35 23 815 CC 0.999892 0.353909 0 - 3 49 103 0 0 8.13301 16 60 588 61 ENST00000430580.2 0.157895 0.353947 NBPF1 55672 __UNKNOWN__ __UNKNOWN__ 1 16918424 16918424 __UNKNOWN__ Missense_Mutation SNP G G C rs9730077 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:16918424G>C ENST00000430580.2 - 7 980 c.93C>G c.(91-93)aaC>aaG p.N31K NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 31 NA N -> K (in dbSNP:rs9730077). cytoplasm (GO:0005737) NA UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) ACTGCTGTTTGTTCTCTGCCA 0.483 NA NA NA NA NA NA NA NA NA NA NA 0 C LYS/ASN 203,4203 0,203,2000 456 456 456 93 -1.1 0 1 dbSNP_119 456 319,8279 0,319,3980 no missense NBPF1 NM_017940.3 94 0,522,5980 CC,CG,GG 3.7102,4.6074,4.0141 benign 31/1123 16918424 522,12482 2203 4299 6502 SO:0001583 missense AB051480 1p36.13 2013-01-30 ENSG00000219481 ENSG00000219481 55672 neuroblastoma breakpoint family 26088 protein-coding gene gene with protein product 610501 NA 11214970, 16079250 Standard NM_017940 NM_017940 NA Approved FLJ20719, KIAA1693 uc001ayw.4 Q3BBV0 OTTHUMG00000002487 ENST00000430580.2:c.93C>G chr1.hg19:g.16918424G>C ENSP00000474456:p.Asn31Lys NA Q8N4E8|Q9C0H0 hg19 0.02 9.702682 TTTxTTC COVERED NOVEL NBPF1-005 NOVEL upstream_uORF|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000106436.3 1 5.325928 KEEP 4 3 107 55 1968 GG 1 1 0 - 9 43 337 0 0 21.791233 205 60 7786 360 ENST00000430580.2 0.042056 1 CROCCP2 84809 __UNKNOWN__ __UNKNOWN__ 1 16946437 16946437 __UNKNOWN__ lincRNA SNP C C T rs2262202 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:16946437C>T ENST00000412962.1 - 0 1082 Q86T23 CROL1_HUMAN ciliary rootlet coiled-coil, rootletin pseudogene 2 NA NA centrosome organization (GO:0051297) ciliary rootlet (GO:0035253) NA AGCCTTCCGCCGGGCCAGCAG 0.672 NA .||| 800 0.159744 0.1067 0.1571 5008 , , NA 61077 0.2659 NA 0.1511 False NA ,,, NA NA NA 2504 0.1329 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AK090414 1p36.13 2010-07-08 2010-07-08 2010-07-08 ENSG00000215908 ENSG00000215908 84809 28170 pseudogene pseudogene ciliary rootlet coiled-coil, rootletin-like 1 CROCCL1 NA 12477932 Standard NR_026752.1 NR_026752 NA Approved MGC12760 uc001azf.3 Q86T23 OTTHUMG00000037884 ENST00000412962.1: chr1.hg19:g.16946437C>T NA Q8NF65|Q96FR5|Q9BRE8 hg19 0.02 -0.24564 CGCxGGG COVERED NOVEL CROCCP2-003 KNOWN basic lincRNA NA lincRNA OTTHUMT00000092784.1 1 2.340996 KEEP 0 1 26 17 581 CC 0.999859 0.641257 0 - 6 60 215 0 0 18.045036 22 60 824 56 ENST00000412962.1 0.214286 0.641347 CROCCP2 84809 __UNKNOWN__ __UNKNOWN__ 1 16947467 16947467 __UNKNOWN__ lincRNA SNP C C T rs2093776 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:16947467C>T ENST00000412962.1 - 0 1000 Q86T23 CROL1_HUMAN ciliary rootlet coiled-coil, rootletin pseudogene 2 NA NA centrosome organization (GO:0051297) ciliary rootlet (GO:0035253) NA actacaggcgcgtgccaccat 0.527 NA .||| 78 0.0155751 0.0 0.0086 5008 , , NA 67165 0.001 NA 0.0348 False NA ,,, NA NA NA 2504 0.0368 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AK090414 1p36.13 2010-07-08 2010-07-08 2010-07-08 ENSG00000215908 ENSG00000215908 84809 28170 pseudogene pseudogene ciliary rootlet coiled-coil, rootletin-like 1 CROCCL1 NA 12477932 Standard NR_026752.1 NR_026752 NA Approved MGC12760 uc001azf.3 Q86T23 OTTHUMG00000037884 ENST00000412962.1: chr1.hg19:g.16947467C>T NA Q8NF65|Q96FR5|Q9BRE8 hg19 0.02 -0.105272 GCGxGTG UNCOVERED NOVEL CROCCP2-003 KNOWN basic lincRNA NA lincRNA OTTHUMT00000092784.1 3 2.983039 KEEP 0 0 0 10 312 CC 0.992708 0.138812 0 - 4 60 140 0 0 12.591174 8 60 283 26 ENST00000412962.1 0.333333 0.139832 CROCCP2 84809 __UNKNOWN__ __UNKNOWN__ 1 16959924 16959924 __UNKNOWN__ lincRNA SNP G G A rs9730456 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:16959924G>A ENST00000412962.1 - 0 16 Q86T23 CROL1_HUMAN ciliary rootlet coiled-coil, rootletin pseudogene 2 NA NA centrosome organization (GO:0051297) ciliary rootlet (GO:0035253) NA tgggtatggcggcccacacct 0.587 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AK090414 1p36.13 2010-07-08 2010-07-08 2010-07-08 ENSG00000215908 ENSG00000215908 84809 28170 pseudogene pseudogene ciliary rootlet coiled-coil, rootletin-like 1 CROCCL1 NA 12477932 Standard NR_026752.1 NR_026752 NA Approved MGC12760 uc001azf.3 Q86T23 OTTHUMG00000037884 ENST00000412962.1: chr1.hg19:g.16959924G>A NA Q8NF65|Q96FR5|Q9BRE8 hg19 0.02 -0.25441 GGCxGCC COVERED NOVEL CROCCP2-003 KNOWN basic lincRNA NA lincRNA OTTHUMT00000092784.1 0 4.213511 KEEP 0 0 0 14 480 GG 0.995343 0.66541 0 - 9 60 336 0 0 30.093723 20 60 694 47 ENST00000412962.1 0.310345 0.668523 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 16972134 16972134 __UNKNOWN__ IGR SNP C C T rs4661404 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:16972134C>T NA NA CROCCP2 (11080 upstream) : RNU1-3 (21145 downstream) NA NA NA GGGGTGGCTCCCACTCCTGCT 0.612 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.16972134C>T NA hg19 0.02 9.211202 CTCxCAC COVERED NOVEL 0 1 3.420782 KEEP 18 6 193 79 2798 CC 1 1 0 22 49 799 0 0 58.320803 222 60 8002 452 0.090164 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 16972190 16972190 __UNKNOWN__ IGR SNP T T C rs4661880 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:16972190T>C NA NA CROCCP2 (11136 upstream) : RNU1-3 (21089 downstream) NA NA NA GCCCCCAACCTTGATCCCCAT 0.597 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.16972190T>C NA hg19 0.02 6.508634 ACCxTGA COVERED NOVEL 0 2 13.657104 KEEP 5 1 36 58 1853 TT 1 1 0 9 47 334 0 0 21.760009 191 60 6940 320 0.045 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 16973519 16973519 __UNKNOWN__ IGR SNP G G A rs2501762 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:16973519G>A NA NA CROCCP2 (12465 upstream) : RNU1-3 (19760 downstream) NA NA NA AACTTCTGCCGTAACCCTGAT 0.632 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.16973519G>A NA hg19 0.02 25.286637 GCCxTAA COVERED NOVEL 0 7 31.557503 KEEP 326 16 475 272 9165 GG 1 1 0 40 49 1499 0 0 105.825625 539 50 18547 1390 0.069085 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 16974955 16974955 __UNKNOWN__ IGR SNP A A G rs370158239 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:16974955A>G NA NA CROCCP2 (13901 upstream) : RNU1-3 (18324 downstream) NA NA NA GCATGCTTTGATGTCTGGGAC 0.657 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.16974955A>G NA hg19 0.02 6.896837 TTGxTGT COVERED NOVEL 0 0 14.377119 KEEP 26 1 38 61 1927 AA 1 1 0 7 25 235 0 0 15.044135 138 60 4794 315 0.048276 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 16975045 16975045 __UNKNOWN__ IGR SNP G G A rs55763726 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:16975045G>A NA NA CROCCP2 (13991 upstream) : RNU1-3 (18234 downstream) NA NA NA CCTCCGAACCGCATGCACAAC 0.587 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.16975045G>A NA hg19 0.02 26.551776 ACCxCAT COVERED NOVEL 0 2 16.873615 KEEP 53 12 379 189 6672 GG 1 1 0 68 49 2453 0 0 184.317613 559 60 18926 1103 0.108453 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 16975289 16975289 __UNKNOWN__ IGR SNP T T A rs200220176 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:16975289T>A NA NA CROCCP2 (14235 upstream) : RNU1-3 (17990 downstream) NA NA NA CCCCCCCAGGTTAGGAGTTGG 0.577 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.16975289T>A NA hg19 0.02 36.597317 AGGxTAG COVERED NOVEL 0 4 28.456556 KEEP 66 17 540 284 8820 TT 1 1 0 59 49 2186 0 0 154.444819 768 60 27333 1433 0.071342 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 16975495 16975495 __UNKNOWN__ IGR SNP T T C rs199672680 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:16975495T>C NA NA CROCCP2 (14441 upstream) : RNU1-3 (17784 downstream) NA NA NA CTTGCGGAATTGGTGAGGCAC 0.612 NA .||| 2809 0.560903 0.4584 0.6268 5008 , , NA 29458 0.7004 NA 0.5159 False NA ,,, NA NA NA 2504 0.5552 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.16975495T>C NA hg19 0.02 -0.43838 AATxGGT COVERED NOVEL 0 1 3.008995 KEEP 26 0 0 10 314 TT 0.992708 0.952859 0 7 27 209 0 0 15.548872 42 60 1519 98 0.142857 0.959859 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 16975642 16975642 __UNKNOWN__ IGR SNP C C T rs201351389 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:16975642C>T NA NA CROCCP2 (14588 upstream) : RNU1-3 (17637 downstream) NA NA NA GGAGTCTGTTCCCTGTCCTAA 0.587 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.16975642C>T NA hg19 0.02 4.014998 GTTxCCT COVERED NOVEL 0 2 3.009507 KEEP 14 0 0 10 337 CC 0.99254 0.992539 0 15 40 523 0 0 39.768641 106 50 3920 156 0.123967 0.999999 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 16977522 16977522 __UNKNOWN__ IGR SNP A A C rs71244378 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:16977522A>C NA NA CROCCP2 (16468 upstream) : RNU1-3 (15757 downstream) NA NA NA TTTTAAAAAAACATTAAACAG 0.353 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.16977522A>C NA hg19 0.02 15.041612 AAAxCAT COVERED NOVEL 0 1 12.841925 KEEP 41 3 101 78 2449 AA 1 1 0 25 37 891 0 0 60.684499 366 60 12983 604 0.063939 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 16984450 16984450 __UNKNOWN__ IGR SNP T T G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:16984450T>G NA NA CROCCP2 (23396 upstream) : RNU1-3 (8829 downstream) NA NA NA CACTTCTggctgggtgcagtg 0.532 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.16984450T>G NA hg19 0.02 -0.184233 GGCxGGG COVERED NOVEL 0 5 7.457269 KEEP 6 1 38 38 1185 TT 1 0.423478 0 3 27 97 0 0 7.39229 18 50 670 93 0.142857 0.423478 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 16984492 16984492 __UNKNOWN__ IGR SNP G G T rs369595972 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:16984492G>T NA NA CROCCP2 (23438 upstream) : RNU1-3 (8787 downstream) NA NA NA actttgggaggtcaaggcggg 0.532 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.16984492G>T NA hg19 0.02 -0.201786 GAGxTCA COVERED NOVEL 0 5 8.764065 KEEP 3 1 34 41 1437 GG 1 0.490544 0 3 27 105 0 0 8.06427 20 50 770 91 0.130435 0.490544 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 17007694 17007694 __UNKNOWN__ IGR SNP C C G rs61772153 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:17007694C>G NA NA AL137798.1 (7687 upstream) : AL021920.1 (55 downstream) NA NA NA AGTTCCCGGGCCTGATCCTGA 0.428 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.17007694C>G NA hg19 0.02 2.346929 GGGxCTG UNCOVERED NOVEL 0 1 4.692548 KEEP 106 2 43 31 1100 CC 0 0 0 12 27 438 0 0 35.359789 61 40 2290 233 0.164384 0.997898 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 17008420 17008420 __UNKNOWN__ IGR SNP G G A rs150930109 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:17008420G>A NA NA AL021920.1 (597 upstream) : ESPNP (9292 downstream) NA NA NA CCTCCAGGGTGTCAGGAGCTC 0.502 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.17008420G>A NA hg19 0.02 2.226091 GGTxTCA COVERED NOVEL 0 0 4.511774 KEEP 2 0 0 15 505 GG 0.995343 0.988302 0 14 49 518 0 0 44.209444 47 60 1800 101 0.229508 0.992926 ESPNP 284729 __UNKNOWN__ __UNKNOWN__ 1 17032137 17032137 __UNKNOWN__ RNA SNP T T A rs4661919 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:17032137T>A ENST00000492551.1 - 0 696 NR_026567.1 espin pseudogene NA NA NA tttcatcatgttgaccaggct 0.502 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AL035288 1p36.13 2013-05-22 ENSG00000268869 ENSG00000268869 284729 23285 pseudogene pseudogene NA 15286153 Standard NR_026567 NA Approved uc001azn.1 OTTHUMG00000000803 ENST00000492551.1: chr1.hg19:g.17032137T>A NA hg19 0.02 -0.096505 ATGxTGA UNCOVERED NOVEL ESPNP-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000326311.1 1 3.007869 KEEP 0 0 0 10 290 TT 0.992708 0.119558 0 - 3 60 113 0 0 9.932222 8 60 287 26 ENST00000492551.1 0.272727 0.120436 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 17047993 17047993 __UNKNOWN__ IGR SNP C C A rs12030913 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:17047993C>A NA NA ESPNP (1341 upstream) : AL021920.2 (12453 downstream) NA NA NA agccaccgtgccctgccAACA 0.552 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.17047993C>A NA hg19 0.02 -0.114044 GTGxCCT UNCOVERED NOVEL 0 0 2.708936 KEEP 1 0 0 9 328 CC 0.99257 0.16126 0 5 60 168 0 0 15.423176 8 60 305 31 0.384615 0.162467 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 17077074 17077074 __UNKNOWN__ IGR SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:17077074G>A NA NA RNU1-4 (9900 upstream) : MST1L (4330 downstream) NA NA NA GAGAGCTGGAGCAGCAGCAGC 0.632 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.17077074G>A NA hg19 0.02 -0.193014 GGAxCAG UNCOVERED NOVEL 0 0 2.407849 KEEP 20 0 0 8 282 GG 0 0 0 3 49 106 0 0 8.22626 19 50 731 54 0.136364 0.457757 MST1L 11223 __UNKNOWN__ __UNKNOWN__ 1 17081685 17081685 __UNKNOWN__ RNA SNP G G A rs4233558 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:17081685G>A ENST00000455405.2 - 0 2903 Q2TV78 MST1L_HUMAN macrophage stimulating 1-like NA NA extracellular region (GO:0005576) serine-type endopeptidase activity (GO:0004252) NA TTTACTTAATGCGGACCTCTG 0.338 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA U28055, AF083416 1p36.33 2013-03-27 2012-11-09 2012-11-09 ENSG00000186715 ENSG00000186715 11223 7390 other unknown macrophage stimulating, pseudogene 7, macrophage stimulating, pseudogene 9, macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 MSTP7, MSTP9, MST1P9 NA 10728827 Standard NM_001271733 NM_001271733 NA Approved D1F15S1A, MSPL7, MSPL-7 uc010ock.3 Q2TV78 OTTHUMG00000002578 ENST00000455405.2: chr1.hg19:g.17081685G>A NA B7WPB1|Q13209 hg19 0.02 35.304019 AATxCGG COVERED NOVEL MST1L-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000400328.1 4 44.378967 KEEP 15 4 115 188 6590 GG 1 1 0 - 30 40 1048 0 0 61.412601 914 60 34068 1207 ENST00000455405.2 0.03178 1 MST1L 11223 __UNKNOWN__ __UNKNOWN__ 1 17081763 17081763 __UNKNOWN__ RNA SNP G G T rs1736749 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:17081763G>T ENST00000455405.2 - 0 2825 Q2TV78 MST1L_HUMAN macrophage stimulating 1-like NA NA extracellular region (GO:0005576) serine-type endopeptidase activity (GO:0004252) NA ATTATAATTAGGTCTGAGAAA 0.368 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA U28055, AF083416 1p36.33 2013-03-27 2012-11-09 2012-11-09 ENSG00000186715 ENSG00000186715 11223 7390 other unknown macrophage stimulating, pseudogene 7, macrophage stimulating, pseudogene 9, macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 MSTP7, MSTP9, MST1P9 NA 10728827 Standard NM_001271733 NM_001271733 NA Approved D1F15S1A, MSPL7, MSPL-7 uc010ock.3 Q2TV78 OTTHUMG00000002578 ENST00000455405.2: chr1.hg19:g.17081763G>T NA B7WPB1|Q13209 hg19 0.02 32.314527 TTAxGTC COVERED NOVEL MST1L-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000400328.1 13 17.1338 KEEP 13 8 239 141 5104 GG 1 1 0 - 35 42 1243 0 0 79.929338 711 60 26624 1055 ENST00000455405.2 0.046917 1 MST1L 11223 __UNKNOWN__ __UNKNOWN__ 1 17082293 17082293 __UNKNOWN__ RNA SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:17082293C>T ENST00000455405.2 - 0 2295 Q2TV78 MST1L_HUMAN macrophage stimulating 1-like NA NA extracellular region (GO:0005576) serine-type endopeptidase activity (GO:0004252) NA cctgtgcttACATGTAAATGT 0.398 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA U28055, AF083416 1p36.33 2013-03-27 2012-11-09 2012-11-09 ENSG00000186715 ENSG00000186715 11223 7390 other unknown macrophage stimulating, pseudogene 7, macrophage stimulating, pseudogene 9, macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 MSTP7, MSTP9, MST1P9 NA 10728827 Standard NM_001271733 NM_001271733 NA Approved D1F15S1A, MSPL7, MSPL-7 uc010ock.3 Q2TV78 OTTHUMG00000002578 ENST00000455405.2: chr1.hg19:g.17082293C>T NA B7WPB1|Q13209 hg19 0.02 40.796686 TTAxATG COVERED NOVEL MST1L-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000400328.1 11 19.201377 KEEP 23 27 832 356 12622 CC 1 1 0 - 94 60 3458 0 0 257.779353 850 60 32174 1551 ENST00000455405.2 0.099576 1 MST1L 11223 __UNKNOWN__ __UNKNOWN__ 1 17082767 17082767 __UNKNOWN__ RNA SNP A A T rs373168065 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:17082767A>T ENST00000455405.2 - 0 1821 Q2TV78 MST1L_HUMAN macrophage stimulating 1-like NA NA extracellular region (GO:0005576) serine-type endopeptidase activity (GO:0004252) NA agttttacatataagaaaact 0.299 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA U28055, AF083416 1p36.33 2013-03-27 2012-11-09 2012-11-09 ENSG00000186715 ENSG00000186715 11223 7390 other unknown macrophage stimulating, pseudogene 7, macrophage stimulating, pseudogene 9, macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 MSTP7, MSTP9, MST1P9 NA 10728827 Standard NM_001271733 NM_001271733 NA Approved D1F15S1A, MSPL7, MSPL-7 uc010ock.3 Q2TV78 OTTHUMG00000002578 ENST00000455405.2: chr1.hg19:g.17082767A>T NA B7WPB1|Q13209 hg19 0.02 40.412101 CATxTAA COVERED NOVEL MST1L-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000400328.1 10 19.461422 KEEP 19 9 292 167 5061 AA 1 1 0 - 89 50 3186 0 0 231.701075 887 60 31995 1199 ENST00000455405.2 0.091189 1 MST1L 11223 __UNKNOWN__ __UNKNOWN__ 1 17082975 17082975 __UNKNOWN__ RNA SNP A A G rs1033403 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:17082975A>G ENST00000455405.2 - 0 1613 Q2TV78 MST1L_HUMAN macrophage stimulating 1-like NA NA extracellular region (GO:0005576) serine-type endopeptidase activity (GO:0004252) NA CAGAGGACAAATAATTTGTTT 0.378 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA U28055, AF083416 1p36.33 2013-03-27 2012-11-09 2012-11-09 ENSG00000186715 ENSG00000186715 11223 7390 other unknown macrophage stimulating, pseudogene 7, macrophage stimulating, pseudogene 9, macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 MSTP7, MSTP9, MST1P9 NA 10728827 Standard NM_001271733 NM_001271733 NA Approved D1F15S1A, MSPL7, MSPL-7 uc010ock.3 Q2TV78 OTTHUMG00000002578 ENST00000455405.2: chr1.hg19:g.17082975A>G NA B7WPB1|Q13209 hg19 0.02 35.041443 CAAxTAA COVERED NOVEL MST1L-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000400328.1 4 13.121676 KEEP 164 14 488 214 6618 AA 1 1 0 - 41 49 1469 0 0 96.108446 775 60 28189 1277 ENST00000455405.2 0.050245 1 MST1L 11223 __UNKNOWN__ __UNKNOWN__ 1 17083031 17083031 __UNKNOWN__ RNA SNP A A C rs1759201 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:17083031A>C ENST00000455405.2 - 0 1557 Q2TV78 MST1L_HUMAN macrophage stimulating 1-like NA NA extracellular region (GO:0005576) serine-type endopeptidase activity (GO:0004252) NA TAGGCATCCCATTGTCAGTCT 0.308 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA U28055, AF083416 1p36.33 2013-03-27 2012-11-09 2012-11-09 ENSG00000186715 ENSG00000186715 11223 7390 other unknown macrophage stimulating, pseudogene 7, macrophage stimulating, pseudogene 9, macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 MSTP7, MSTP9, MST1P9 NA 10728827 Standard NM_001271733 NM_001271733 NA Approved D1F15S1A, MSPL7, MSPL-7 uc010ock.3 Q2TV78 OTTHUMG00000002578 ENST00000455405.2: chr1.hg19:g.17083031A>C NA B7WPB1|Q13209 hg19 0.02 35.334669 CCCxTTG COVERED NOVEL MST1L-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000400328.1 7 45.111343 KEEP 133 5 181 213 6755 AA 1 1 0 - 21 37 781 0 0 45.914428 783 60 29188 1313 ENST00000455405.2 0.026119 1 MST1L 11223 __UNKNOWN__ __UNKNOWN__ 1 17083485 17083485 __UNKNOWN__ RNA SNP A A G rs371742490 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:17083485A>G ENST00000455405.2 - 0 1103 Q2TV78 MST1L_HUMAN macrophage stimulating 1-like NA NA extracellular region (GO:0005576) serine-type endopeptidase activity (GO:0004252) NA acttgtattgataaggcaaaa 0.373 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA U28055, AF083416 1p36.33 2013-03-27 2012-11-09 2012-11-09 ENSG00000186715 ENSG00000186715 11223 7390 other unknown macrophage stimulating, pseudogene 7, macrophage stimulating, pseudogene 9, macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 MSTP7, MSTP9, MST1P9 NA 10728827 Standard NM_001271733 NM_001271733 NA Approved D1F15S1A, MSPL7, MSPL-7 uc010ock.3 Q2TV78 OTTHUMG00000002578 ENST00000455405.2: chr1.hg19:g.17083485A>G NA B7WPB1|Q13209 hg19 0.02 39.60183 TTGxTAA COVERED NOVEL MST1L-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000400328.1 5 6.192323 KEEP 39 11 370 150 4616 AA 1 1 0 - 99 60 3539 0 0 263.706942 845 60 30534 1179 ENST00000455405.2 0.104873 1 MST1L 11223 __UNKNOWN__ __UNKNOWN__ 1 17083568 17083568 __UNKNOWN__ RNA SNP G G A rs10159208 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:17083568G>A ENST00000455405.2 - 0 1020 Q2TV78 MST1L_HUMAN macrophage stimulating 1-like NA NA extracellular region (GO:0005576) serine-type endopeptidase activity (GO:0004252) NA cttcattactgtttacttgca 0.328 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA U28055, AF083416 1p36.33 2013-03-27 2012-11-09 2012-11-09 ENSG00000186715 ENSG00000186715 11223 7390 other unknown macrophage stimulating, pseudogene 7, macrophage stimulating, pseudogene 9, macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 MSTP7, MSTP9, MST1P9 NA 10728827 Standard NM_001271733 NM_001271733 NA Approved D1F15S1A, MSPL7, MSPL-7 uc010ock.3 Q2TV78 OTTHUMG00000002578 ENST00000455405.2: chr1.hg19:g.17083568G>A NA B7WPB1|Q13209 hg19 0.02 38.665261 ACTxTTT COVERED NOVEL MST1L-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000400328.1 7 14.404304 KEEP 6 19 596 257 9186 GG 1 1 0 - 64 60 2381 1 0 168.690984 827 60 31206 1417 ENST00000455405.2 0.071829 1 MST1L 11223 __UNKNOWN__ __UNKNOWN__ 1 17083984 17083984 __UNKNOWN__ RNA SNP C C T rs71269410 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:17083984C>T ENST00000455405.2 - 0 700 Q2TV78 MST1L_HUMAN macrophage stimulating 1-like NA NA extracellular region (GO:0005576) serine-type endopeptidase activity (GO:0004252) NA CATACCCTTCCAGGGCTGGCC 0.602 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA U28055, AF083416 1p36.33 2013-03-27 2012-11-09 2012-11-09 ENSG00000186715 ENSG00000186715 11223 7390 other unknown macrophage stimulating, pseudogene 7, macrophage stimulating, pseudogene 9, macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 MSTP7, MSTP9, MST1P9 NA 10728827 Standard NM_001271733 NM_001271733 NA Approved D1F15S1A, MSPL7, MSPL-7 uc010ock.3 Q2TV78 OTTHUMG00000002578 ENST00000455405.2: chr1.hg19:g.17083984C>T NA B7WPB1|Q13209 hg19 0.02 8.793905 TTCxAGG COVERED NOVEL MST1L-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000400328.1 0 4.648044 KEEP 55 1 27 25 835 CC 0.999957 0.999957 0 - 19 40 648 0 0 44.907704 226 40 7952 343 ENST00000455405.2 0.077551 1 MST1L 11223 __UNKNOWN__ __UNKNOWN__ 1 17084021 17084021 __UNKNOWN__ RNA SNP C C G rs2446543 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:17084021C>G ENST00000455405.2 - 0 691 Q2TV78 MST1L_HUMAN macrophage stimulating 1-like NA NA extracellular region (GO:0005576) serine-type endopeptidase activity (GO:0004252) p.A634P(1) NA ACCTCACAGGCCCCCACAGGG 0.572 NA NA NA NA NA NA NA NA NA NA NA 1 Substitution - Missense(1) kidney(1) NA NA NA NA NA NA NA NA NA NA U28055, AF083416 1p36.33 2013-03-27 2012-11-09 2012-11-09 ENSG00000186715 ENSG00000186715 11223 7390 other unknown macrophage stimulating, pseudogene 7, macrophage stimulating, pseudogene 9, macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 MSTP7, MSTP9, MST1P9 NA 10728827 Standard NM_001271733 NM_001271733 NA Approved D1F15S1A, MSPL7, MSPL-7 uc010ock.3 Q2TV78 OTTHUMG00000002578 ENST00000455405.2: chr1.hg19:g.17084021C>G NA B7WPB1|Q13209 hg19 0.02 13.034786 AGGxCCC COVERED . . . . . . . . . . . 9.021 0.984781 0.18889 . . ENSG00000186715 ENST00000334998;ENST00000442552 . . . . . . Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3); 0.000000 0.41938 D 0.000787 T 0.57431 0.2053 . . . . . . D;D 0.89917 1.0;1.0 D;D 0.91635 0.999;0.999 T 0.61426 -0.7065 6 0.15499 T 0.54 . 6.7402 0.23431 0.0:0.9998:0.0:2.0E-4 rs2446543 634;660 Q2TV78-2;Q2TV78 .;MSTP9_HUMAN P 634;660 . ENSP00000439273:A634P A - 1 0 MST1P9 16956608 0.997000 0.39634 0.867000 0.34043 0.000000 0.00434 4.380000 0.59581 0.502000 0.28037 0.000000 0.15137 GCC NOVEL MST1L-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000400328.1 0 6.91009 KEEP 70 4 137 71 2312 CC 1 1 0 - 21 50 742 0 0 50.301788 309 50 11077 502 ENST00000455405.2 0.063636 1 MST1L 11223 __UNKNOWN__ __UNKNOWN__ 1 17084304 17084304 __UNKNOWN__ RNA SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:17084304C>T ENST00000455405.2 - 0 504 Q2TV78 MST1L_HUMAN macrophage stimulating 1-like NA NA extracellular region (GO:0005576) serine-type endopeptidase activity (GO:0004252) NA GCACCACATACCATTCAGGCG 0.592 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA U28055, AF083416 1p36.33 2013-03-27 2012-11-09 2012-11-09 ENSG00000186715 ENSG00000186715 11223 7390 other unknown macrophage stimulating, pseudogene 7, macrophage stimulating, pseudogene 9, macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 MSTP7, MSTP9, MST1P9 NA 10728827 Standard NM_001271733 NM_001271733 NA Approved D1F15S1A, MSPL7, MSPL-7 uc010ock.3 Q2TV78 OTTHUMG00000002578 ENST00000455405.2: chr1.hg19:g.17084304C>T NA B7WPB1|Q13209 hg19 0.02 34.514999 ATAxCAT COVERED . . . . . . . . . . . 14.99 2.699627 0.48307 . . ENSG00000186715 ENST00000334998;ENST00000442552 . . . . . . . 1.119050 0.06987 N 0.820905 . . . . . . . . . . . . . . . . . . . 0.45353 T 0.12 . . . . . . . . X 571;597 . ENSP00000439273:W571X W - 3 0 MST1P9 16956891 0.997000 0.39634 0.000000 0.03702 0.000000 0.00434 -0.034000 0.12225 -0.000000 0.14550 0.000000 0.15137 TGG NOVEL MST1L-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000400328.1 7 17.041708 KEEP 10 11 358 182 6401 CC 1 1 0 - 22 27 787 0 0 44.505673 864 60 31301 1236 ENST00000455405.2 0.024831 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 17085373 17085373 __UNKNOWN__ IGR SNP C C T rs2092130 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:17085373C>T NA NA MST1L (6 upstream) : RP11-108M9.1 (92442 downstream) NA NA p.G440R(1)|p.G397R(1) NA TGGCTATCCCCATCTGGGTCT 0.602 NA NA NA NA NA NA NA NA NA NA NA 2 Substitution - Missense(2) kidney(2) NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.17085373C>T NA hg19 0.02 21.257132 CCCxATC COVERED . . . . . . . . . . . 3.164 -0.171433 0.06421 . . ENSG00000186715 ENST00000389184;ENST00000334998;ENST00000442552 . . . . . . . 0.699669 0.12362 N 0.475555 T 0.21761 0.0524 . . . . . . B 0.16166 0.016 B 0.17979 0.02 T 0.23940 -1.0174 5 . . . . 3.5811 0.07954 2.0E-4:0.4998:0.4998:2.0E-4 rs2092130;rs2095110;rs4567270;rs9701105 440 Q2TV78-2 . R 397;440;440 . . G - 1 0 MST1P9 16957960 1.000000 0.71417 0.000000 0.03702 0.000000 0.00434 1.482000 0.35486 -0.000000 0.14550 0.000000 0.15137 GGG NOVEL 0 6 21.106291 KEEP 108 4 125 114 3938 CC 1 1 0 20 27 723 0 0 45.966588 451 60 16989 845 0.042463 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 17087682 17087682 __UNKNOWN__ IGR SNP A A G rs9725203 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:17087682A>G NA NA MST1L (2315 upstream) : RP11-108M9.1 (90133 downstream) NA NA NA TTGTTCATTCAGGGGATCAAA 0.522 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.17087682A>G NA hg19 0.02 4.534711 TTCxGGG COVERED NOVEL 0 2 4.509806 KEEP 4 0 0 15 416 AA 0.995343 0.995343 0 16 59 554 0 0 41.987532 114 52 4217 155 0.123077 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 17197409 17197409 __UNKNOWN__ IGR SNP G G A rs201203798 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:17197409G>A NA NA RP11-108M9.2 (11630 upstream) : U1 (2793 downstream) NA NA NA CCATTGTGTCGGCTTTGTCTG 0.507 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.17197409G>A NA hg19 0.02 4.428169 GTCxGCT COVERED NOVEL 0 0 3.309321 KEEP 9 0 0 11 329 GG 0.993072 0.993072 0 6 33 214 0 0 13.904968 115 60 3591 157 0.049587 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 17197418 17197418 __UNKNOWN__ IGR SNP T T C rs60058191 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:17197418T>C NA NA RP11-108M9.2 (11639 upstream) : U1 (2784 downstream) NA NA NA CGGCTTTGTCTGCCTTGGCAA 0.507 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.17197418T>C NA hg19 0.02 4.803333 GTCxGCC COVERED NOVEL 0 0 3.610401 KEEP 8 0 0 12 356 TT 0.993634 0.993634 0 11 40 396 0 0 28.22562 126 60 4602 170 0.080292 1 ATP13A2 23400 __UNKNOWN__ __UNKNOWN__ 1 17328668 17328668 __UNKNOWN__ Intron SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:17328668C>T ENST00000326735.8 - 8 669 RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000341676.5_Intron|ATP13A2_ENST00000452699.1_Intron Q9NQ11 AT132_HUMAN ATPase type 13A2 NA NA cell death (GO:0008219)|cellular response to manganese ion (GO:0071287) integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764) ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872) central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) GGTGAAGGAGCtccccacttt 0.617 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL354615 CCDS175.1, CCDS44072.1, CCDS44073.1 1p36 2014-09-17 ENSG00000159363 ENSG00000159363 23400 ATPases / P-type, Parkinson disease 30213 protein-coding gene gene with protein product 610513 Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome) PARK9 NA 15381061, 16964263 Standard NM_022089 XM_005245809 NA Approved HSA9947, CLN12 uc001baa.2 Q9NQ11 OTTHUMG00000002293 ENST00000326735.8:c.636-70G>A chr1.hg19:g.17328668C>T NA O75700|Q5JXY1|Q5JXY2|Q6S9Z9 hg19 CCDS175.1 0.02 6.280247 GAGxTCC COVERED NOVEL ATP13A2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000006617.1 0 8.993068 KEEP 0 0 0 30 1019 CC 0.999997 0.999997 0 - 6 60 219 0 0 13.175845 186 60 6895 282 ENST00000326735.8 0.03125 1 PADI1 29943 __UNKNOWN__ __UNKNOWN__ 1 17559415 17559415 __UNKNOWN__ Silent SNP C C T rs139052576 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:17559415C>T ENST00000375471.4 + 11 1355 c.1263C>T c.(1261-1263)ggC>ggT p.G421G NM_013358.2 NP_037490.2 Q9ULC6 PADI1_HUMAN peptidyl arginine deiminase, type I 421 NA protein citrullination (GO:0018101) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062) calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668) haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 28 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197) L-Citrulline(DB00155) TCACGGTGGGCGGCACGGAAT 0.657 NA C||| 35 0.00698882 0.0008 0.0274 5008 , , NA 15592 0.0119 NA 0.0 False NA ,,, NA NA NA 2504 0.0031 NA NA NA Esophageal Squamous(80;414 1257 4580 27746 50832) NA 0 C 2,4404 4.2+/-10.8 0,2,2201 26 24 25 1263 -3.7 0 1 dbSNP_134 25 8,8592 6.4+/-24.3 0,8,4292 no coding-synonymous PADI1 NM_013358.2 0,10,6493 TT,TC,CC 0.093,0.0454,0.0769 421/664 17559415 10,12996 2203 4300 6503 SO:0001819 synonymous_variant AB033768 CCDS178.1 1p36.13 2008-07-18 ENSG00000142623 ENSG00000142623 29943 3.5.3.15 Peptidyl arginine deiminases 18367 protein-coding gene gene with protein product peptidylarginine deiminase type I, protein-arginine deiminase type-1, hPAD-colony 10 607934 NA 12416996 Standard NM_013358 NM_013358 NA Approved HPAD10, PDI1, PDI, PAD1 uc001bah.1 Q9ULC6 OTTHUMG00000002294 ENST00000375471.4:c.1263C>T chr1.hg19:g.17559415C>T NA A1L4K6|Q70SX6 hg19 CCDS178.1 0.02 19.783526 GGGxGGC COVERED NOVEL PADI1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000006621.1 1 26.392864 KEEP 0 1 32 99 3436 CC 1 1 0 + 19 60 641 0 0 39.173227 450 60 15588 739 ENST00000375471.4 0.040512 1 PADI1 29943 __UNKNOWN__ __UNKNOWN__ 1 17567149 17567149 __UNKNOWN__ Missense_Mutation SNP G G A rs140750531 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:17567149G>A ENST00000375471.4 + 15 1744 c.1652G>A c.(1651-1653)cGt>cAt p.R551H PADI1_ENST00000413717.2_Intron|PADI1_ENST00000460293.1_3'UTR|PADI1_ENST00000537499.1_Missense_Mutation_p.R108H|PADI1_ENST00000536552.1_Missense_Mutation_p.R22H NM_013358.2 NP_037490.2 Q9ULC6 PADI1_HUMAN peptidyl arginine deiminase, type I 551 NA protein citrullination (GO:0018101) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062) calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668) p.R551H(1) haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 28 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197) L-Citrulline(DB00155) GACTGGAACCGTAATGTGCTG 0.572 NA G||| 35 0.00698882 0.0008 0.0274 5008 , , NA 19850 0.0119 NA 0.0 False NA ,,, NA NA NA 2504 0.0031 NA NA NA Esophageal Squamous(80;414 1257 4580 27746 50832) NA 1 Substitution - Missense(1) large_intestine(1) G HIS/ARG 3,4403 6.2+/-15.9 0,3,2200 102 98 100 1652 3.6 1 1 dbSNP_134 100 8,8592 6.4+/-24.3 0,8,4292 yes missense PADI1 NM_013358.2 29 0,11,6492 AA,AG,GG 0.093,0.0681,0.0846 probably-damaging 551/664 17567149 11,12995 2203 4300 6503 SO:0001583 missense AB033768 CCDS178.1 1p36.13 2008-07-18 ENSG00000142623 ENSG00000142623 29943 3.5.3.15 Peptidyl arginine deiminases 18367 protein-coding gene gene with protein product peptidylarginine deiminase type I, protein-arginine deiminase type-1, hPAD-colony 10 607934 NA 12416996 Standard NM_013358 NM_013358 NA Approved HPAD10, PDI1, PDI, PAD1 uc001bah.1 Q9ULC6 OTTHUMG00000002294 ENST00000375471.4:c.1652G>A chr1.hg19:g.17567149G>A ENSP00000364620:p.Arg551His NA A1L4K6|Q70SX6 hg19 CCDS178.1 0.02 8.551699 ACCxTAA COVERED 16 0.007326007326007326 1 0.0020325203252032522 5 0.013812154696132596 10 0.017482517482517484 0 0.0 G 16.61 3.171148 0.57584 6.81E-4 9.3E-4 ENSG00000142623 ENST00000375471;ENST00000537499;ENST00000536552 T;T;T 0.34667 1.35;1.35;1.35 3.61 3.61 0.41365 Protein-arginine deiminase, C-terminal (1); 0.000000 0.85682 D 0.000000 T 0.46521 0.1397 M 0.84585 2.705 0.41271 D 0.986847 D 0.89917 1.0 D 0.97110 1.0 T 0.65606 -0.6127 10 0.59425 D 0.04 -19.2604 13.9947 0.64390 0.0:0.0:1.0:0.0 . 551 Q9ULC6 PADI1_HUMAN H 551;108;22 ENSP00000364620:R551H;ENSP00000444032:R108H;ENSP00000444833:R22H ENSP00000364620:R551H R + 2 0 PADI1 17439736 1.000000 0.71417 0.995000 0.50966 0.232000 0.25224 9.087000 0.94110 1.871000 0.54225 0.455000 0.32223 CGT NOVEL PADI1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000006621.1 1 8.727555 KEEP 0 0 0 29 982 GG 0.999997 0.999997 0 + 9 60 327 0 0 20.53887 219 60 7373 299 ENST00000375471.4 0.039474 1 ARHGEF10L 55160 __UNKNOWN__ __UNKNOWN__ 1 18014270 18014270 __UNKNOWN__ Intron SNP G G A rs2297914 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:18014270G>A ENST00000375415.1 + 25 3110 ARHGEF10L_ENST00000452522.1_Intron|ARHGEF10L_ENST00000434513.1_Intron|ARHGEF10L_ENST00000375408.3_Intron|ARHGEF10L_ENST00000361221.3_Intron|ARHGEF10L_ENST00000167825.4_Intron|ARHGEF10L_ENST00000469726.1_Intron NM_001011722.2 NP_001011722 Q9HCE6 ARGAL_HUMAN Rho guanine nucleotide exchange factor (GEF) 10-like NA NA cytoplasm (GO:0005737) Rho guanyl-nucleotide exchange factor activity (GO:0005089) NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 43 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204) ACGGGGGAGCGGACAGTCACA 0.597 NA T||| 62 0.0123802 0.0 0.0 5008 , , NA 18792 0.0565 NA 0.0 False NA ,,, NA NA NA 2504 0.0051 NA NA NA NA 0 T , 4,4398 0,4,2197 38 35 36 , -4.1 0 1 dbSNP_100 36 1,8593 0,1,4296 no intron,intron ARHGEF10L NM_001011722.2,NM_018125.3 , 0,5,6493 AA,AG,GG 0.0116,0.0909,0.0385 , , 18014270 5,12991 2201 4297 6498 SO:0001627 intron_variant AB046846 CCDS182.1, CCDS30617.1 1p36.13 2011-11-16 ENSG00000074964 ENSG00000074964 55160 Rho guanine nucleotide exchange factors 25540 protein-coding gene gene with protein product GrinchGEF 612494 NA 10997877, 16112081 Standard NM_018125 XM_005245923 NA Approved FLJ10521, KIAA1626 uc001ban.3 Q9HCE6 OTTHUMG00000002514 ENST00000375415.1:c.3067+28G>A chr1.hg19:g.18014270G>A NA B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3 hg19 CCDS30617.1 0.02 8.673259 AGCxGAC COVERED NOVEL ARHGEF10L-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000007149.1 0 10.066008 KEEP 0 1 27 43 1470 GG 1 1 0 + 9 60 336 0 0 21.284962 228 60 8042 330 ENST00000375415.1 0.037975 1 ARHGEF10L 55160 __UNKNOWN__ __UNKNOWN__ 1 18021409 18021409 __UNKNOWN__ Intron SNP G G A rs10888049 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:18021409G>A ENST00000375415.1 + 26 3110 ARHGEF10L_ENST00000452522.1_Intron|ARHGEF10L_ENST00000375408.3_Intron|ARHGEF10L_ENST00000361221.3_Intron|ARHGEF10L_ENST00000167825.4_Intron|ARHGEF10L_ENST00000469726.1_Intron NM_001011722.2 NP_001011722 Q9HCE6 ARGAL_HUMAN Rho guanine nucleotide exchange factor (GEF) 10-like NA NA cytoplasm (GO:0005737) Rho guanyl-nucleotide exchange factor activity (GO:0005089) NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 43 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204) GCATCCGTATGGCAGccccac 0.622 NA G||| 170 0.0339457 0.0749 0.0058 5008 , , NA 19054 0.0615 NA 0.0 False NA ,,, NA NA NA 2504 0.0051 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB046846 CCDS182.1, CCDS30617.1 1p36.13 2011-11-16 ENSG00000074964 ENSG00000074964 55160 Rho guanine nucleotide exchange factors 25540 protein-coding gene gene with protein product GrinchGEF 612494 NA 10997877, 16112081 Standard NM_018125 XM_005245923 NA Approved FLJ10521, KIAA1626 uc001ban.3 Q9HCE6 OTTHUMG00000002514 ENST00000375415.1:c.3068-244G>A chr1.hg19:g.18021409G>A NA B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3 hg19 CCDS30617.1 0.02 6.552262 TATxGCA COVERED NOVEL ARHGEF10L-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000007149.1 0 15.650872 KEEP 0 0 0 52 1856 GG 1 1 0 + 8 60 290 0 0 18.327936 187 60 7067 314 ENST00000375415.1 0.041026 1 ARHGEF10L 55160 __UNKNOWN__ __UNKNOWN__ 1 18024197 18024197 __UNKNOWN__ 3'UTR SNP C C T rs3766314 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:18024197C>T ENST00000361221.3 + 0 4321 ARHGEF10L_ENST00000452522.1_3'UTR|ARHGEF10L_ENST00000375408.3_3'UTR|ARHGEF10L_ENST00000167825.4_3'UTR|ARHGEF10L_ENST00000469726.1_3'UTR NM_018125.3 NP_060595 Q9HCE6 ARGAL_HUMAN Rho guanine nucleotide exchange factor (GEF) 10-like NA NA cytoplasm (GO:0005737) Rho guanyl-nucleotide exchange factor activity (GO:0005089) NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 43 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204) GGCAGCCACACGCCCCTCCTG 0.468 NA C||| 138 0.0275559 0.0492 0.0058 5008 , , NA 15829 0.0635 NA 0.0 False NA ,,, NA NA NA 2504 0.0051 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB046846 CCDS182.1, CCDS30617.1 1p36.13 2011-11-16 ENSG00000074964 ENSG00000074964 55160 Rho guanine nucleotide exchange factors 25540 protein-coding gene gene with protein product GrinchGEF 612494 NA 10997877, 16112081 Standard NM_018125 XM_005245923 NA Approved FLJ10521, KIAA1626 uc001ban.3 Q9HCE6 OTTHUMG00000002514 ENST00000361221.3:c.*322C>T chr1.hg19:g.18024197C>T NA B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3 hg19 CCDS182.1 0.02 18.28669 ACAxGCC COVERED 67 0.030677655677655676 26 0.052845528455284556 3 0.008287292817679558 38 0.06643356643356643 0 0.0 C 7.736 0.700216 0.15106 . . ENSG00000074964 ENST00000457829 . . . 4.45 0.0109 0.14085 . . . . . T 0.01940 0.0061 . . . 0.09310 N 1 . . . . . . T 0.15665 -1.0429 5 0.49607 T 0.09 . 1.3435 0.02159 0.1745:0.4536:0.17:0.2019 rs3766314;rs61678424 . . . M 1019 . ENSP00000413858:T1019M T + 2 0 ARHGEF10L 17896784 0.000000 0.05858 0.000000 0.03702 0.002000 0.02628 -0.179000 0.09768 -0.208000 0.10171 0.655000 0.94253 ACG NOVEL ARHGEF10L-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000007147.1 2 18.658601 KEEP 0 0 0 62 2079 CC 1 1 0 + 20 60 726 0 0 46.950689 415 60 14279 589 ENST00000361221.3 0.045977 1 IGSF21 84966 __UNKNOWN__ __UNKNOWN__ 1 18692048 18692048 __UNKNOWN__ Missense_Mutation SNP G G A rs149943630 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:18692048G>A ENST00000251296.1 + 6 1255 c.872G>A c.(871-873)cGc>cAc p.R291H NM_032880.4 NP_116269.3 Q96ID5 IGS21_HUMAN immunoglobin superfamily, member 21 291 NA extracellular region (GO:0005576) endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 40 Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157) CGCCACAGCCGCACCCCGAGC 0.632 NA G||| 1 0.000199681 0.0 0.0 5008 , , NA 19244 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 G HIS/ARG 0,4406 0,0,2203 108 98 102 872 -0.3 1 1 dbSNP_134 102 2,8598 2.2+/-6.3 0,2,4298 yes missense IGSF21 NM_032880.4 29 0,2,6501 AA,AG,GG 0.0233,0.0,0.0154 benign 291/468 18692048 2,13004 2203 4300 6503 SO:0001583 missense AK075316 CCDS184.1 1p36.13 2013-01-29 ENSG00000117154 ENSG00000117154 84966 Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 28246 protein-coding gene gene with protein product NA 12477932 Standard NM_032880 NM_032880 NA Approved MGC15730, RP11-121A23.1 uc001bau.2 Q96ID5 OTTHUMG00000002432 ENST00000251296.1:c.872G>A chr1.hg19:g.18692048G>A ENSP00000251296:p.Arg291His NA Q8NBR8 hg19 CCDS184.1 0.02 24.352236 GCCxCAC COVERED . . . . . . . . . . G 6.571 0.473759 0.12521 0.0 2.33E-4 ENSG00000117154 ENST00000251296 T 0.52526 0.66 4.28 -0.3 0.12804 . 0.378221 0.31233 N 0.008016 T 0.15998 0.0385 N 0.01576 -0.805 0.27573 N 0.949829 B 0.02656 0.0 B 0.01281 0.0 T 0.26121 -1.0112 10 0.17832 T 0.49 -11.9272 8.3841 0.32491 0.5998:0.0:0.4002:0.0 . 291 Q96ID5 IGS21_HUMAN H 291 ENSP00000251296:R291H ENSP00000251296:R291H R + 2 0 IGSF21 18564635 0.997000 0.39634 0.989000 0.46669 0.994000 0.84299 2.560000 0.45896 0.064000 0.16427 0.561000 0.74099 CGC NOVEL IGSF21-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000006924.1 3 32.191663 KEEP 0 0 0 107 3738 GG 1 1 0 + 16 60 563 0 0 31.742527 601 60 21201 879 ENST00000251296.1 0.025932 1 KLHDC7A 127707 __UNKNOWN__ __UNKNOWN__ 1 18810484 18810484 __UNKNOWN__ 3'UTR SNP G G A rs386629135|rs1889861|rs202080357 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:18810484G>A ENST00000400664.1 + 0 3061 NM_152375.2 NP_689588.2 Q5VTJ3 KLD7A_HUMAN kelch domain containing 7A NA NA integral component of membrane (GO:0016021) endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 22 Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) CTTATTGGAAGAAAGAGAAGC 0.468 NA G||| 1307 0.260982 0.1785 0.2334 5008 , , NA 19592 0.6032 NA 0.1163 False NA ,,, NA NA NA 2504 0.1881 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK096072 CCDS185.2 1p36.13 2008-02-05 ENSG00000179023 ENSG00000179023 127707 26791 protein-coding gene gene with protein product NA Standard NM_152375 NM_152375 NA Approved FLJ38753 uc001bax.3 Q5VTJ3 OTTHUMG00000002431 ENST00000400664.1:c.*675G>A chr1.hg19:g.18810484G>A NA Q8N8W6 hg19 CCDS185.2 0.02 26.711412 GAAxAAA COVERED NOVEL KLHDC7A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000006923.3 3 13.313227 KEEP 0 2 65 67 2354 GG 1 1 0 + 42 60 1505 1 0 104.220145 566 60 21553 812 ENST00000400664.1 0.069079 1 ALDH4A1 8659 __UNKNOWN__ __UNKNOWN__ 1 19198576 19198576 __UNKNOWN__ 3'UTR SNP A A G rs1138267 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:19198576A>G ENST00000375341.3 - 0 2712 ALDH4A1_ENST00000538309.1_3'UTR|RP13-279N23.2_ENST00000494072.3_Intron|ALDH4A1_ENST00000538839.1_3'UTR|ALDH4A1_ENST00000290597.5_Intron NM_003748.3 NP_003739.2 P30038 AL4A1_HUMAN aldehyde dehydrogenase 4 family, member A1 NA NA 4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|proline biosynthetic process (GO:0006561)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281) mitochondrial matrix (GO:0005759) 1-pyrroline-5-carboxylate dehydrogenase activity (GO:0003842)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|electron carrier activity (GO:0009055)|identical protein binding (GO:0042802) cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1) 15 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) CTGAGGATCAAAGGGAAGGCT 0.592 NA G||| 3381 0.67512 0.4985 0.7767 5008 , , NA 19651 0.7093 NA 0.7296 False NA ,,, NA NA NA 2504 0.7505 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U24266 CCDS188.1, CCDS53272.1 1p36 2008-02-05 ENSG00000159423 ENSG00000159423 8659 1.5.1.12 Aldehyde dehydrogenases 406 protein-coding gene gene with protein product 606811 ALDH4 NA 8621661 Standard NM_003748 NA Approved P5CDh uc001bbc.3 P30038 OTTHUMG00000002443 ENST00000375341.3:c.*763T>C chr1.hg19:g.19198576A>G NA A8K1Q7|B4DGE4|D2D4A3|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6 hg19 CCDS188.1 0.02 15.327785 TCAxAGG COVERED NOVEL ALDH4A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000006954.1 1 2.314469 KEEP 0 3 113 47 1501 AA 1 1 0 - 14 60 508 0 0 31.947628 337 60 12096 481 ENST00000375341.3 0.039886 1 ALDH4A1 8659 __UNKNOWN__ __UNKNOWN__ 1 19198637 19198637 __UNKNOWN__ 3'UTR SNP G G A rs3202002 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:19198637G>A ENST00000375341.3 - 0 2651 ALDH4A1_ENST00000538309.1_3'UTR|RP13-279N23.2_ENST00000494072.3_Intron|ALDH4A1_ENST00000538839.1_3'UTR|ALDH4A1_ENST00000290597.5_Intron NM_003748.3 NP_003739.2 P30038 AL4A1_HUMAN aldehyde dehydrogenase 4 family, member A1 NA NA 4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|proline biosynthetic process (GO:0006561)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281) mitochondrial matrix (GO:0005759) 1-pyrroline-5-carboxylate dehydrogenase activity (GO:0003842)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|electron carrier activity (GO:0009055)|identical protein binding (GO:0042802) cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1) 15 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) GGCCTAAACCGGCAGGACCAT 0.612 NA G||| 2376 0.474441 0.2012 0.5504 5008 , , NA 19515 0.6716 NA 0.4483 False NA ,,, NA NA NA 2504 0.6135 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U24266 CCDS188.1, CCDS53272.1 1p36 2008-02-05 ENSG00000159423 ENSG00000159423 8659 1.5.1.12 Aldehyde dehydrogenases 406 protein-coding gene gene with protein product 606811 ALDH4 NA 8621661 Standard NM_003748 NA Approved P5CDh uc001bbc.3 P30038 OTTHUMG00000002443 ENST00000375341.3:c.*702C>T chr1.hg19:g.19198637G>A NA A8K1Q7|B4DGE4|D2D4A3|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6 hg19 CCDS188.1 0.02 16.486849 ACCxGCA COVERED NOVEL ALDH4A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000006954.1 1 13.444677 KEEP 0 3 89 76 2570 GG 1 1 0 - 12 60 408 0 0 23.030398 400 60 13636 620 ENST00000375341.3 0.029126 1 RP13-279N23.2 0 __UNKNOWN__ __UNKNOWN__ 1 19199473 19199473 __UNKNOWN__ Intron SNP T T A rs28700162 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:19199473T>A ENST00000494072.3 - 22 2631 ALDH4A1_ENST00000538309.1_Intron|ALDH4A1_ENST00000375341.3_Intron|ALDH4A1_ENST00000538839.1_Intron|ALDH4A1_ENST00000290597.5_Intron NA NA NA ACACTTCTGTTTTTCTCTGAA 0.567 NA T||| 2361 0.471446 0.1989 0.5519 5008 , , NA 22010 0.6558 NA 0.4513 False NA ,,, NA NA NA 2504 0.6135 NA NA NA NA 0 T ,, 1114,3292 399.5+/-331.2 146,822,1235 58 54 56 ,, 0.1 0 1 dbSNP_125 56 3675,4925 524.9+/-380.6 773,2129,1398 no intron,intron,intron ALDH4A1 NM_001161504.1,NM_003748.3,NM_170726.2 ,, 919,2951,2633 AA,AT,TT 42.7326,25.2837,36.8215 ,, ,, 19199473 4789,8217 2203 4300 6503 SO:0001627 intron_variant NA NA NA NA ENST00000494072.3:c.886+1483A>T chr1.hg19:g.19199473T>A NA hg19 0.02 6.290287 TGTxTTT COVERED NOVEL RP13-279N23.2-001 KNOWN alternative_3_UTR|not_organism_supported|mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000393307.3 1 6.01699 KEEP 0 0 0 20 621 TT 0.999863 0.999863 0 - 9 60 328 0 0 21.858284 159 60 5699 225 ENST00000494072.3 0.053571 1 RP13-279N23.2 0 __UNKNOWN__ __UNKNOWN__ 1 19200908 19200908 __UNKNOWN__ Intron SNP G G C rs28529092 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:19200908G>C ENST00000494072.3 - 22 2631 ALDH4A1_ENST00000538309.1_Intron|ALDH4A1_ENST00000375341.3_Intron|ALDH4A1_ENST00000538839.1_Intron|ALDH4A1_ENST00000290597.5_Intron NA NA NA AACATCTAGGGTCTCCCACCA 0.577 NA G||| 2747 0.548522 0.4349 0.5807 5008 , , NA 18685 0.6637 NA 0.4692 False NA ,,, NA NA NA 2504 0.6421 NA NA NA NA 0 G ,, 1883,2523 539.8+/-375.3 404,1075,724 68 72 71 ,, 4.5 0 1 dbSNP_125 71 3808,4792 535.8+/-382.9 833,2142,1325 no intron,intron,intron ALDH4A1 NM_001161504.1,NM_003748.3,NM_170726.2 ,, 1237,3217,2049 CC,CG,GG 44.2791,42.7372,43.7567 ,, ,, 19200908 5691,7315 2203 4300 6503 SO:0001627 intron_variant NA NA NA NA ENST00000494072.3:c.886+48C>G chr1.hg19:g.19200908G>C NA hg19 0.02 13.88044 AGGxTCT COVERED NOVEL RP13-279N23.2-001 KNOWN alternative_3_UTR|not_organism_supported|mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000393307.3 0 9.966446 KEEP 0 1 37 46 1622 GG 1 1 0 - 13 60 483 0 0 31.049939 299 60 10978 470 ENST00000494072.3 0.041667 1 ALDH4A1 8659 __UNKNOWN__ __UNKNOWN__ 1 19201956 19201956 __UNKNOWN__ Silent SNP A A G rs2230708 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:19201956A>G ENST00000375341.3 - 13 1637 c.1380T>C c.(1378-1380)gaT>gaC p.D460D ALDH4A1_ENST00000538309.1_Silent_p.D400D|RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000538839.1_Silent_p.D409D|ALDH4A1_ENST00000290597.5_Silent_p.D460D NM_003748.3 NP_003739.2 P30038 AL4A1_HUMAN aldehyde dehydrogenase 4 family, member A1 460 NA 4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|proline biosynthetic process (GO:0006561)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281) mitochondrial matrix (GO:0005759) 1-pyrroline-5-carboxylate dehydrogenase activity (GO:0003842)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|electron carrier activity (GO:0009055)|identical protein binding (GO:0042802) cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1) 15 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) TGTACTTGTCATCCGGGTAGA 0.632 NA OREG0013164 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) G||| 3692 0.73722 0.705 0.8112 5008 , , NA 18480 0.7063 NA 0.7386 False NA ,,, NA NA NA 2504 0.7587 NA NA NA NA 0 G ,, 2993,1413 462.1+/-353.1 1024,945,234 118 109 112 1200,1380,1380 -10.2 0 1 dbSNP_98 112 6140,2460 404.8+/-348.3 2191,1758,351 no coding-synonymous,coding-synonymous,coding-synonymous ALDH4A1 NM_001161504.1,NM_003748.3,NM_170726.2 ,, 3215,2703,585 GG,GA,AA 28.6047,32.0699,29.7786 ,, 400/504,460/564,460/564 19201956 9133,3873 2203 4300 6503 SO:0001819 synonymous_variant U24266 CCDS188.1, CCDS53272.1 1p36 2008-02-05 ENSG00000159423 ENSG00000159423 8659 1.5.1.12 Aldehyde dehydrogenases 406 protein-coding gene gene with protein product 606811 ALDH4 NA 8621661 Standard NM_003748 NA Approved P5CDh uc001bbc.3 P30038 OTTHUMG00000002443 ENST00000375341.3:c.1380T>C chr1.hg19:g.19201956A>G 731 A8K1Q7|B4DGE4|D2D4A3|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6 hg19 CCDS188.1 0.02 6.601801 GTCxTCC COVERED NOVEL ALDH4A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000006954.1 0 10.53042 KEEP 0 0 0 35 1074 AA 0.999999 0.999999 0 - 8 60 292 0 0 18.849702 170 60 6271 272 ENST00000375341.3 0.044944 1 ALDH4A1 8659 __UNKNOWN__ __UNKNOWN__ 1 19202896 19202896 __UNKNOWN__ Silent SNP G G A rs2230707 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:19202896G>A ENST00000375341.3 - 12 1508 c.1251C>T c.(1249-1251)gcC>gcT p.A417A ALDH4A1_ENST00000538309.1_Silent_p.A357A|RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000538839.1_Intron|ALDH4A1_ENST00000290597.5_Silent_p.A417A NM_003748.3 NP_003739.2 P30038 AL4A1_HUMAN aldehyde dehydrogenase 4 family, member A1 417 NA 4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|proline biosynthetic process (GO:0006561)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281) mitochondrial matrix (GO:0005759) 1-pyrroline-5-carboxylate dehydrogenase activity (GO:0003842)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|electron carrier activity (GO:0009055)|identical protein binding (GO:0042802) cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1) 15 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) ACTTGCCCCCGGCCAGGATGG 0.627 NA G||| 2584 0.515974 0.4569 0.6513 5008 , , NA 19095 0.6002 NA 0.4453 False NA ,,, NA NA NA 2504 0.4857 NA NA NA NA 0 G ,, 1917,2489 542.7+/-376.1 427,1063,713 53 42 46 1071,1251,1251 -8.6 0.7 1 dbSNP_98 46 3997,4603 548.6+/-385.4 907,2183,1210 yes coding-synonymous,coding-synonymous,coding-synonymous ALDH4A1 NM_001161504.1,NM_003748.3,NM_170726.2 ,, 1334,3246,1923 AA,AG,GG 46.4767,43.5089,45.4713 ,, 357/504,417/564,417/564 19202896 5914,7092 2203 4300 6503 SO:0001819 synonymous_variant U24266 CCDS188.1, CCDS53272.1 1p36 2008-02-05 ENSG00000159423 ENSG00000159423 8659 1.5.1.12 Aldehyde dehydrogenases 406 protein-coding gene gene with protein product 606811 ALDH4 NA 8621661 Standard NM_003748 NA Approved P5CDh uc001bbc.3 P30038 OTTHUMG00000002443 ENST00000375341.3:c.1251C>T chr1.hg19:g.19202896G>A NA A8K1Q7|B4DGE4|D2D4A3|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6 hg19 CCDS188.1 0.02 1.924632 CCCxGCC COVERED NOVEL ALDH4A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000006954.1 1 5.715781 KEEP 0 0 0 19 656 GG 0.99986 0.999586 0 - 4 60 143 0 0 9.249537 79 60 2790 132 ENST00000375341.3 0.048193 0.999726 UBR4 23352 __UNKNOWN__ __UNKNOWN__ 1 19483209 19483209 __UNKNOWN__ Intron SNP A A G rs10799710 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:19483209A>G ENST00000375254.3 - 41 5947 UBR4_ENST00000375226.2_Intron|UBR4_ENST00000375267.2_Intron|UBR4_ENST00000375217.2_Intron NM_020765.2 NP_065816.2 Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 NA NA protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032) centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634) ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) GGGGAGAGAAAATGACTAGAA 0.388 NA G||| 2833 0.565695 0.5189 0.5605 5008 , , NA 19805 0.7986 NA 0.4414 False NA ,,, NA NA NA 2504 0.5204 NA NA NA NA 0 G 920,832 235,450,191 88 85 86 -3.3 0 1 dbSNP_120 86 1766,2216 401,964,626 no intron UBR4 NM_020765.2 636,1414,817 GG,GA,AA 44.3496,47.4886,46.8434 19483209 2686,3048 876 1991 2867 SO:0001627 intron_variant AF348492 CCDS189.1 1p36.13 2008-06-23 2007-06-19 2007-06-19 ENSG00000127481 ENSG00000127481 23352 Ubiquitin protein ligase E3 component n-recognins 30313 protein-coding gene gene with protein product 609890 zinc finger, UBR1 type 1 ZUBR1 NA 14702039, 10718198, 16055722 Standard NM_020765 XM_005245802 NA Approved KIAA1307, KIAA0462, RBAF600 uc001bbi.3 Q5T4S7 OTTHUMG00000002498 ENST00000375254.3:c.5919+51T>C chr1.hg19:g.19483209A>G NA A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82 hg19 CCDS189.1 0.02 2.131778 GAAxATG COVERED NOVEL UBR4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000007085.1 0 2.694107 KEEP 0 0 0 9 243 AA 0.99254 0.960208 0 - 5 60 188 0 0 14.037913 47 60 1702 63 ENST00000375254.3 0.096154 0.967425 UBR4 23352 __UNKNOWN__ __UNKNOWN__ 1 19499427 19499427 __UNKNOWN__ Missense_Mutation SNP G G A rs200325025 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:19499427G>A ENST00000375254.3 - 25 3479 c.3452C>T c.(3451-3453)tCg>tTg p.S1151L UBR4_ENST00000375226.2_Missense_Mutation_p.S1151L|UBR4_ENST00000375267.2_Missense_Mutation_p.S1151L|UBR4_ENST00000375217.2_Missense_Mutation_p.S1151L NM_020765.2 NP_065816.2 Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 1151 NA protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032) centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634) ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) AATCTCAGACGACTTATGAGG 0.507 NA G||| 5 0.000998403 0.0 0.0 5008 , , NA 18438 0.005 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 92 85 88 NA NA 1 NA 19499427 2203 4300 6503 SO:0001583 missense AF348492 CCDS189.1 1p36.13 2008-06-23 2007-06-19 2007-06-19 ENSG00000127481 ENSG00000127481 23352 Ubiquitin protein ligase E3 component n-recognins 30313 protein-coding gene gene with protein product 609890 zinc finger, UBR1 type 1 ZUBR1 NA 14702039, 10718198, 16055722 Standard NM_020765 XM_005245802 NA Approved KIAA1307, KIAA0462, RBAF600 uc001bbi.3 Q5T4S7 OTTHUMG00000002498 ENST00000375254.3:c.3452C>T chr1.hg19:g.19499427G>A ENSP00000364403:p.Ser1151Leu NA A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82 hg19 CCDS189.1 0.02 10.858183 GACxACT COVERED 1 4.578754578754579E-4 0 0.0 0 0.0 1 0.0017482517482517483 0 0.0 G 18.45 3.627261 0.66901 . . ENSG00000127481 ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000419533 T;T;T;T 0.57107 0.42;0.42;0.42;0.42 5.75 5.75 0.90469 . 0.078238 0.53938 D 0.000051 T 0.43612 0.1255 L 0.29908 0.895 0.80722 D 1 B 0.32731 0.382 B 0.25140 0.058 T 0.40175 -0.9577 10 0.56958 D 0.05 . 19.5476 0.95305 0.0:0.0:1.0:0.0 . 1151 Q5T4S7 UBR4_HUMAN L 1151;1151;1151;1151;367 ENSP00000364403:S1151L;ENSP00000364416:S1151L;ENSP00000364365:S1151L;ENSP00000364374:S1151L ENSP00000364365:S1151L S - 2 0 UBR4 19372014 1.000000 0.71417 1.000000 0.80357 0.881000 0.50899 9.476000 0.97823 2.719000 0.93026 0.655000 0.94253 TCG NOVEL UBR4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000007085.1 1 16.25092 KEEP 0 0 0 54 1795 GG 1 1 0 - 13 60 472 0 0 30.510669 270 60 9181 392 ENST00000375254.3 0.045936 1 EMC1 23065 __UNKNOWN__ __UNKNOWN__ 1 19544988 19544988 __UNKNOWN__ 3'UTR SNP G G A rs566838598 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:19544988G>A ENST00000477853.1 - 0 3833 EMC1_ENST00000375208.3_3'UTR|EMC1_ENST00000375199.3_3'UTR|RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000480380.1_5'UTR NM_001271427.1|NM_001271428.1|NM_015047.2 NP_001258356.1|NP_001258357.1|NP_055862.1 Q8N766 EMC1_HUMAN ER membrane protein complex subunit 1 NA NA ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021) NA TGGGTGAAATGAGAGATTATC 0.358 NA G||| 13 0.00259585 0.0 0.0 5008 , , NA 17823 0.0129 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS190.1, CCDS59190.1, CCDS59191.1 1p36.13 2012-05-23 2012-05-23 2012-05-23 ENSG00000127463 ENSG00000127463 23065 28957 protein-coding gene gene with protein product KIAA0090 KIAA0090 NA 22119785 Standard NM_015047 NM_015047 NA Approved uc001bbo.4 Q8N766 OTTHUMG00000002497 ENST00000477853.1:c.*809C>T chr1.hg19:g.19544988G>A NA A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8 hg19 CCDS190.1 0.02 1.88063 AATxAGA COVERED NOVEL EMC1-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000007076.2 2 11.13605 KEEP 0 0 0 37 1291 GG 1 0.999894 0 - 4 60 136 0 0 8.385351 88 60 3392 157 ENST00000477853.1 0.043478 0.999895 PQLC2 54896 __UNKNOWN__ __UNKNOWN__ 1 19651385 19651385 __UNKNOWN__ Intron SNP G G T rs214314 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:19651385G>T ENST00000375153.3 + 3 934 PQLC2_ENST00000375155.3_Intron|PQLC2_ENST00000400548.2_Intron NM_001040125.1 NP_001035214.1 Q6ZP29 LAAT1_HUMAN PQ loop repeat containing 2 NA NA amino acid homeostasis (GO:0080144)|arginine transport (GO:0015809)|lysine transport (GO:0015819) integral component of organelle membrane (GO:0031301)|lysosomal membrane (GO:0005765) arginine transmembrane transporter activity (GO:0015181)|basic amino acid transmembrane transporter activity (GO:0015174)|L-lysine transmembrane transporter activity (GO:0015189) haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1) 10 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) CCATCTTGTGGGAGGGCCCCA 0.577 NA T||| 2743 0.547724 0.6452 0.4856 5008 , , NA 19034 0.4117 NA 0.5457 False NA ,,, NA NA NA 2504 0.6022 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC015324 CCDS195.2, CCDS30618.1 1p36.13 2013-10-11 ENSG00000040487 ENSG00000040487 54896 26001 protein-coding gene gene with protein product 614760 NA 23169667 Standard NM_017765 XM_005245915 NA Approved FLJ20320 uc001bby.3 Q6ZP29 OTTHUMG00000002521 ENST00000375153.3:c.294+129G>T chr1.hg19:g.19651385G>T NA B3KWQ5|Q6ZMJ3|Q6ZP27|Q9NXC7 hg19 CCDS195.2 0.02 -0.386017 GTGxGAG COVERED NOVEL PQLC2-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000007255.1 3 2.407815 KEEP 0 0 0 8 280 GG 0.99257 0.911349 0 + 3 60 107 0 0 7.376329 41 60 1489 58 ENST00000375153.3 0.068182 0.918171 PQLC2 54896 __UNKNOWN__ __UNKNOWN__ 1 19654947 19654947 __UNKNOWN__ Intron SNP A A C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:19654947A>C ENST00000375153.3 + 8 1444 PQLC2_ENST00000375155.3_Intron|PQLC2_ENST00000400548.2_Intron NM_001040125.1 NP_001035214.1 Q6ZP29 LAAT1_HUMAN PQ loop repeat containing 2 NA NA amino acid homeostasis (GO:0080144)|arginine transport (GO:0015809)|lysine transport (GO:0015819) integral component of organelle membrane (GO:0031301)|lysosomal membrane (GO:0005765) arginine transmembrane transporter activity (GO:0015181)|basic amino acid transmembrane transporter activity (GO:0015174)|L-lysine transmembrane transporter activity (GO:0015189) haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1) 10 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) GGCCCTTCCCACCTGCAGCGT 0.652 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC015324 CCDS195.2, CCDS30618.1 1p36.13 2013-10-11 ENSG00000040487 ENSG00000040487 54896 26001 protein-coding gene gene with protein product 614760 NA 23169667 Standard NM_017765 XM_005245915 NA Approved FLJ20320 uc001bby.3 Q6ZP29 OTTHUMG00000002521 ENST00000375153.3:c.805-119A>C chr1.hg19:g.19654947A>C NA B3KWQ5|Q6ZMJ3|Q6ZP27|Q9NXC7 hg19 CCDS195.2 0.02 -0.209538 CCCxCCT COVERED NOVEL PQLC2-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000007255.1 0 2.401825 KEEP 0 0 0 8 209 AA 0.99257 0.518282 0 + 4 60 93 0 0 6.689614 18 60 572 38 ENST00000375153.3 0.181818 0.522161 PQLC2 54896 __UNKNOWN__ __UNKNOWN__ 1 19655734 19655734 __UNKNOWN__ 3'UTR SNP G G A rs41302028 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:19655734G>A ENST00000375153.3 + 0 2113 PQLC2_ENST00000375155.3_3'UTR|PQLC2_ENST00000400548.2_3'UTR NM_001040125.1 NP_001035214.1 Q6ZP29 LAAT1_HUMAN PQ loop repeat containing 2 NA NA amino acid homeostasis (GO:0080144)|arginine transport (GO:0015809)|lysine transport (GO:0015819) integral component of organelle membrane (GO:0031301)|lysosomal membrane (GO:0005765) arginine transmembrane transporter activity (GO:0015181)|basic amino acid transmembrane transporter activity (GO:0015174)|L-lysine transmembrane transporter activity (GO:0015189) haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1) 10 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) ctgggtgacagagtgagactc 0.532 NA g||| 905 0.180711 0.0681 0.1729 5008 , , NA 19005 0.0833 NA 0.2873 False NA ,,, NA NA NA 2504 0.3292 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC015324 CCDS195.2, CCDS30618.1 1p36.13 2013-10-11 ENSG00000040487 ENSG00000040487 54896 26001 protein-coding gene gene with protein product 614760 NA 23169667 Standard NM_017765 XM_005245915 NA Approved FLJ20320 uc001bby.3 Q6ZP29 OTTHUMG00000002521 ENST00000375153.3:c.*597G>A chr1.hg19:g.19655734G>A NA B3KWQ5|Q6ZMJ3|Q6ZP27|Q9NXC7 hg19 CCDS195.2 0.02 4.203219 ACAxAGT COVERED NOVEL PQLC2-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000007255.1 11 25.052091 KEEP 0 2 62 105 3837 GG 1 1 0 + 6 60 228 0 0 14.815499 139 60 5373 333 ENST00000375153.3 0.041379 1 CAPZB 832 __UNKNOWN__ __UNKNOWN__ 1 19775246 19775246 __UNKNOWN__ Intron SNP C C T rs10442634 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:19775246C>T ENST00000264203.3 - 2 575 CAPZB_ENST00000433834.1_Intron|CAPZB_ENST00000482808.1_Intron|CAPZB_ENST00000264202.6_Intron|CAPZB_ENST00000401084.2_Intron|CAPZB_ENST00000375142.1_Intron NM_001206541.2 NP_001193470.1 P47756 CAPZB_HUMAN capping protein (actin filament) muscle Z-line, beta NA NA actin cytoskeleton organization (GO:0030036)|barbed-end actin filament capping (GO:0051016)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|muscle fiber development (GO:0048747)|negative regulation of microtubule polymerization (GO:0031115)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)|regulation of protein kinase C signaling (GO:0090036) acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|membrane (GO:0016020)|WASH complex (GO:0071203)|Z disc (GO:0030018) actin binding (GO:0003779) endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1) 7 Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173) TCTCCCTTCACCCTGGCAGTT 0.512 NA C||| 1140 0.227636 0.1755 0.2767 5008 , , NA 20203 0.2351 NA 0.2624 False NA ,,, NA NA NA 2504 0.2198 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U03271 CCDS41277.1, CCDS55579.1, CCDS72717.1, CCDS72718.1 1p36.1 2014-05-09 ENSG00000077549 ENSG00000077549 832 1491 protein-coding gene gene with protein product 601572 NA Standard NM_004930 NA Approved uc021ohr.1 P47756 OTTHUMG00000002556 ENST00000264203.3:c.81+81G>A chr1.hg19:g.19775246C>T NA Q32Q68|Q5U0L4|Q8TB49|Q9NUC4 hg19 0.02 10.071528 TCAxCCT COVERED NOVEL CAPZB-002 KNOWN basic protein_coding NA protein_coding OTTHUMT00000007259.1 3 59.593519 KEEP 0 0 0 198 7037 CC 1 1 0 - 9 60 330 0 0 19.843178 284 60 10490 622 ENST00000264203.3 0.030717 1 TMCO4 255104 __UNKNOWN__ __UNKNOWN__ 1 20027404 20027404 __UNKNOWN__ Intron SNP G G A rs10799834 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:20027404G>A ENST00000294543.6 - 14 1506 TMCO4_ENST00000375127.1_Intron|TMCO4_ENST00000375122.2_Intron|TMCO4_ENST00000489814.1_Intron NM_181719.4 NP_859070.3 Q5TGY1 TMCO4_HUMAN transmembrane and coiled-coil domains 4 NA NA integral component of membrane (GO:0016021) biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1) 19 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223) AGAAAAGGCCGTCAGTGTCCC 0.557 NA G||| 2046 0.408546 0.4493 0.3112 5008 , , NA 17963 0.6319 NA 0.2753 False NA ,,, NA NA NA 2504 0.3292 NA NA NA NA 0 G 1904,2502 545.8+/-376.9 444,1016,743 58 46 50 -1.9 0 1 dbSNP_120 50 2423,6177 402.8+/-347.6 361,1701,2238 no intron TMCO4 NM_181719.4 805,2717,2981 AA,AG,GG 28.1744,43.2138,33.2693 20027404 4327,8679 2203 4300 6503 SO:0001627 intron_variant CCDS198.1 1p36.13 2008-02-05 ENSG00000162542 ENSG00000162542 255104 27393 protein-coding gene gene with protein product NA Standard NM_181719 NM_181719 NA Approved DKFZp686C23231 uc001bcn.3 Q5TGY1 OTTHUMG00000002697 ENST00000294543.6:c.1265-26C>T chr1.hg19:g.20027404G>A NA Q5TGY2|Q6MZN5|Q7Z6K6|Q9UQP4|Q9Y3K1 hg19 CCDS198.1 0.02 9.208376 GCCxTCA COVERED NOVEL TMCO4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000007658.1 1 13.543614 KEEP 0 0 0 45 1562 GG 1 1 0 - 13 60 470 0 0 32.038584 197 60 7086 304 ENST00000294543.6 0.061905 1 TMCO4 255104 __UNKNOWN__ __UNKNOWN__ 1 20027423 20027423 __UNKNOWN__ Intron SNP T T G rs10737480 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:20027423T>G ENST00000294543.6 - 14 1506 TMCO4_ENST00000375127.1_Intron|TMCO4_ENST00000375122.2_Intron|TMCO4_ENST00000489814.1_Intron NM_181719.4 NP_859070.3 Q5TGY1 TMCO4_HUMAN transmembrane and coiled-coil domains 4 NA NA integral component of membrane (GO:0016021) biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1) 19 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223) CCTGGCCACATTGGGTGCTGG 0.542 NA G||| 2795 0.558107 0.8215 0.4452 5008 , , NA 18575 0.7004 NA 0.332 False NA ,,, NA NA NA 2504 0.3681 NA NA NA NA 0 G 3264,1142 405.1+/-333.4 1221,822,160 45 36 39 2.8 0 1 dbSNP_120 39 2848,5752 671.3+/-402.8 507,1834,1959 no intron TMCO4 NM_181719.4 1728,2656,2119 GG,GT,TT 33.1163,25.9192,46.9937 20027423 6112,6894 2203 4300 6503 SO:0001627 intron_variant CCDS198.1 1p36.13 2008-02-05 ENSG00000162542 ENSG00000162542 255104 27393 protein-coding gene gene with protein product NA Standard NM_181719 NM_181719 NA Approved DKFZp686C23231 uc001bcn.3 Q5TGY1 OTTHUMG00000002697 ENST00000294543.6:c.1265-45A>C chr1.hg19:g.20027423T>G NA Q5TGY2|Q6MZN5|Q7Z6K6|Q9UQP4|Q9Y3K1 hg19 CCDS198.1 0.02 7.031834 ACAxTGG COVERED NOVEL TMCO4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000007658.1 2 8.124635 KEEP 0 0 0 27 860 TT 0.999988 0.999988 0 - 13 60 492 0 1 34.945139 173 60 6096 237 ENST00000294543.6 0.069892 1 TMCO4 255104 __UNKNOWN__ __UNKNOWN__ 1 20097106 20097106 __UNKNOWN__ Intron SNP G G A rs79514605 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:20097106G>A ENST00000294543.6 - 6 596 TMCO4_ENST00000375122.2_Intron|TMCO4_ENST00000375127.1_Intron NM_181719.4 NP_859070.3 Q5TGY1 TMCO4_HUMAN transmembrane and coiled-coil domains 4 NA NA integral component of membrane (GO:0016021) biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1) 19 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223) GCTGATATACGATACAGCGCG 0.438 NA G||| 198 0.0395367 0.0008 0.0692 5008 , , NA 21045 0.1468 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 G 5,4401 9.9+/-24.2 0,5,2198 100 92 95 -3.1 0 1 dbSNP_131 95 3,8597 2.2+/-6.3 0,3,4297 no intron TMCO4 NM_181719.4 0,8,6495 AA,AG,GG 0.0349,0.1135,0.0615 20097106 8,12998 2203 4300 6503 SO:0001627 intron_variant CCDS198.1 1p36.13 2008-02-05 ENSG00000162542 ENSG00000162542 255104 27393 protein-coding gene gene with protein product NA Standard NM_181719 NM_181719 NA Approved DKFZp686C23231 uc001bcn.3 Q5TGY1 OTTHUMG00000002697 ENST00000294543.6:c.355-44C>T chr1.hg19:g.20097106G>A NA Q5TGY2|Q6MZN5|Q7Z6K6|Q9UQP4|Q9Y3K1 hg19 CCDS198.1 0.02 13.742276 TACxATA COVERED NOVEL TMCO4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000007658.1 0 18.057467 KEEP 0 0 0 60 2041 GG 1 1 0 - 13 60 491 0 0 31.953885 293 60 10340 445 ENST00000294543.6 0.042484 1 TMCO4 255104 __UNKNOWN__ __UNKNOWN__ 1 20107018 20107018 __UNKNOWN__ Intron SNP G G A rs12035882 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:20107018G>A ENST00000294543.6 - 4 421 TMCO4_ENST00000375122.2_Intron|TMCO4_ENST00000375127.1_Intron NM_181719.4 NP_859070.3 Q5TGY1 TMCO4_HUMAN transmembrane and coiled-coil domains 4 NA NA integral component of membrane (GO:0016021) biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1) 19 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223) TTGGCTGTCCGTAGTTGTTCC 0.552 NA G||| 896 0.178914 0.0242 0.2118 5008 , , NA 21889 0.3542 NA 0.2137 False NA ,,, NA NA NA 2504 0.1483 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS198.1 1p36.13 2008-02-05 ENSG00000162542 ENSG00000162542 255104 27393 protein-coding gene gene with protein product NA Standard NM_181719 NM_181719 NA Approved DKFZp686C23231 uc001bcn.3 Q5TGY1 OTTHUMG00000002697 ENST00000294543.6:c.179+54C>T chr1.hg19:g.20107018G>A NA Q5TGY2|Q6MZN5|Q7Z6K6|Q9UQP4|Q9Y3K1 hg19 CCDS198.1 0.02 3.960874 TCCxTAG COVERED NOVEL TMCO4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000007658.1 0 3.009615 KEEP 0 0 0 10 353 GG 0.992708 0.992708 0 - 5 60 187 0 0 11.570701 145 60 4943 183 ENST00000294543.6 0.033333 1 PINK1 65018 __UNKNOWN__ __UNKNOWN__ 1 20977599 20977599 __UNKNOWN__ 3'UTR SNP C C G rs8064 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:20977599C>G ENST00000321556.4 + 0 2255 PINK1-AS_ENST00000451424.1_RNA|PINK1_ENST00000492302.1_3'UTR NM_032409.2 NP_115785.1 Q9BXM7 PINK1_HUMAN PTEN induced putative kinase 1 NA NA activation of protein kinase B activity (GO:0032148)|cell death (GO:0008219)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|intracellular signal transduction (GO:0035556)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway (GO:1903384)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|peptidyl-serine autophosphorylation (GO:0036289)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial electron transport, NADH to ubiquinone (GO:1902958)|positive regulation of peptidase activity (GO:0010952)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein complex assembly (GO:0043254)|regulation of protein ubiquitination (GO:0031396)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|TORC2 signaling (GO:0038203)|ubiquitin-dependent protein catabolic process (GO:0006511) astrocyte projection (GO:0097449)|axon (GO:0030424)|cell body (GO:0044297)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|Lewy body (GO:0097413)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471) ATP binding (GO:0005524)|C3HC4-type RING finger domain binding (GO:0055131)|calcium-dependent protein kinase activity (GO:0010857)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)|protein kinase B binding (GO:0043422)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2) 14 all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) TCAGCACGTTCAGTTACGGGA 0.512 NA C||| 576 0.115016 0.0061 0.1527 5008 , , NA 22747 0.127 NA 0.1938 False NA ,,, NA NA NA 2504 0.1421 NA NA NA Esophageal Squamous(145;853 1803 8146 34412 35011) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB053323 CCDS211.1 1p36.12 2011-07-21 ENSG00000158828 ENSG00000158828 65018 Parkinson disease 14581 protein-coding gene gene with protein product 608309 Parkinson disease (autosomal recessive) 6 PARK6 NA 11494141, 15349860 Standard NM_032409 NM_032409 NA Approved uc001bdm.3 Q9BXM7 OTTHUMG00000002841 ENST00000321556.4:c.*415C>G chr1.hg19:g.20977599C>G NA Q8N6T9|Q8NBU3|Q96DE4 hg19 CCDS211.1 0.02 13.947969 GTTxAGT COVERED NOVEL PINK1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000007954.1 1 13.480248 KEEP 0 1 38 58 2026 CC 1 1 0 + 12 60 465 0 0 29.876398 316 60 11975 469 ENST00000321556.4 0.036585 1 ECE1 1889 __UNKNOWN__ __UNKNOWN__ 1 21582348 21582348 __UNKNOWN__ Intron SNP T T C rs2076282 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:21582348T>C ENST00000436918.2 - 8 1070 ECE1_ENST00000357071.4_Intron|ECE1_ENST00000264205.6_Intron|ECE1_ENST00000374893.6_Intron|ECE1_ENST00000528294.1_Intron|ECE1_ENST00000415912.2_Intron P42892 ECE1_HUMAN endothelin converting enzyme 1 NA NA bradykinin catabolic process (GO:0010815)|calcitonin catabolic process (GO:0010816)|ear development (GO:0043583)|embryonic digit morphogenesis (GO:0042733)|endothelin maturation (GO:0034959)|heart development (GO:0007507)|hormone catabolic process (GO:0042447)|peptide hormone processing (GO:0016486)|pharyngeal system development (GO:0060037)|positive regulation of receptor recycling (GO:0001921)|protein processing (GO:0016485)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|substance P catabolic process (GO:0010814) early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endosome membrane (GO:0031302)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)|Weibel-Palade body (GO:0033093) endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803) endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1) 25 Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206) tttcaaggactagatgaaatg 0.517 NA T||| 727 0.145168 0.0182 0.2651 5008 , , NA 18912 0.131 NA 0.2386 False NA ,,, NA NA NA 2504 0.1503 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D49471 CCDS215.1, CCDS44081.1, CCDS44082.1, CCDS44083.1 1p36.1 2008-02-05 ENSG00000117298 ENSG00000117298 1889 3146 protein-coding gene gene with protein product 600423 ECE NA 7805846, 7864876, 17592116 Standard NM_001397 NM_001397 NA Approved uc001bei.2 P42892 OTTHUMG00000002625 ENST00000436918.2:c.1020+91A>G chr1.hg19:g.21582348T>C NA A8K3P1|B4E291|Q14217|Q17RN5|Q2Z2K8|Q58GE7|Q5THM5|Q5THM7|Q5THM8|Q9UJQ6|Q9UPF4|Q9UPM4|Q9Y501 hg19 0.02 -0.385902 GACxAGA COVERED NOVEL ECE1-008 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000007476.2 2 4.210091 KEEP 0 0 0 14 400 TT 0.995343 0.913895 0 - 5 60 191 0 0 14.721601 39 60 1423 61 ENST00000436918.2 0.113636 0.918171 ECE1 1889 __UNKNOWN__ __UNKNOWN__ 1 21583973 21583973 __UNKNOWN__ Intron SNP A A G rs3026879 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:21583973A>G ENST00000436918.2 - 7 878 ECE1_ENST00000357071.4_Intron|ECE1_ENST00000264205.6_Intron|ECE1_ENST00000374893.6_Intron|ECE1_ENST00000415912.2_Intron P42892 ECE1_HUMAN endothelin converting enzyme 1 NA NA bradykinin catabolic process (GO:0010815)|calcitonin catabolic process (GO:0010816)|ear development (GO:0043583)|embryonic digit morphogenesis (GO:0042733)|endothelin maturation (GO:0034959)|heart development (GO:0007507)|hormone catabolic process (GO:0042447)|peptide hormone processing (GO:0016486)|pharyngeal system development (GO:0060037)|positive regulation of receptor recycling (GO:0001921)|protein processing (GO:0016485)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|substance P catabolic process (GO:0010814) early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endosome membrane (GO:0031302)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)|Weibel-Palade body (GO:0033093) endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803) endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1) 25 Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206) CGGAGCAGGAAGGACCGTGCT 0.597 NA A||| 727 0.145168 0.0182 0.2651 5008 , , NA 20658 0.131 NA 0.2386 False NA ,,, NA NA NA 2504 0.1503 NA NA NA NA 0 A ,,, 241,4165 135.3+/-171.4 8,225,1970 134 78 97 ,,, -8.2 0 1 dbSNP_102 97 2168,6432 353.0+/-328.9 262,1644,2394 no intron,intron,intron,intron ECE1 NM_001113347.1,NM_001113348.1,NM_001113349.1,NM_001397.2 ,,, 270,1869,4364 GG,GA,AA 25.2093,5.4698,18.5222 ,,, ,,, 21583973 2409,10597 2203 4300 6503 SO:0001627 intron_variant D49471 CCDS215.1, CCDS44081.1, CCDS44082.1, CCDS44083.1 1p36.1 2008-02-05 ENSG00000117298 ENSG00000117298 1889 3146 protein-coding gene gene with protein product 600423 ECE NA 7805846, 7864876, 17592116 Standard NM_001397 NM_001397 NA Approved uc001bei.2 P42892 OTTHUMG00000002625 ENST00000436918.2:c.828+44T>C chr1.hg19:g.21583973A>G NA A8K3P1|B4E291|Q14217|Q17RN5|Q2Z2K8|Q58GE7|Q5THM5|Q5THM7|Q5THM8|Q9UJQ6|Q9UPF4|Q9UPM4|Q9Y501 hg19 0.02 7.232843 GGAxGGA COVERED NOVEL ECE1-008 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000007476.2 2 18.725335 KEEP 0 2 65 85 2725 AA 1 1 0 - 6 60 224 0 0 14.107972 157 60 5652 308 ENST00000436918.2 0.03681 1 ECE1 1889 __UNKNOWN__ __UNKNOWN__ 1 21616769 21616769 __UNKNOWN__ Intron SNP G G A rs574181993 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:21616769G>A ENST00000436918.2 - 1 101 ECE1_ENST00000374893.6_Intron|ECE1_ENST00000415912.2_Intron P42892 ECE1_HUMAN endothelin converting enzyme 1 NA NA bradykinin catabolic process (GO:0010815)|calcitonin catabolic process (GO:0010816)|ear development (GO:0043583)|embryonic digit morphogenesis (GO:0042733)|endothelin maturation (GO:0034959)|heart development (GO:0007507)|hormone catabolic process (GO:0042447)|peptide hormone processing (GO:0016486)|pharyngeal system development (GO:0060037)|positive regulation of receptor recycling (GO:0001921)|protein processing (GO:0016485)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|substance P catabolic process (GO:0010814) early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endosome membrane (GO:0031302)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)|Weibel-Palade body (GO:0033093) endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803) endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1) 25 Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206) cTGGACACCCGAGACCGAGAC 0.826 NA G||| 1 0.000199681 0.0 0.0 5008 , , NA 3988 0.0 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D49471 CCDS215.1, CCDS44081.1, CCDS44082.1, CCDS44083.1 1p36.1 2008-02-05 ENSG00000117298 ENSG00000117298 1889 3146 protein-coding gene gene with protein product 600423 ECE NA 7805846, 7864876, 17592116 Standard NM_001397 NM_001397 NA Approved uc001bei.2 P42892 OTTHUMG00000002625 ENST00000436918.2:c.51+87C>T chr1.hg19:g.21616769G>A NA A8K3P1|B4E291|Q14217|Q17RN5|Q2Z2K8|Q58GE7|Q5THM5|Q5THM7|Q5THM8|Q9UJQ6|Q9UPF4|Q9UPM4|Q9Y501 hg19 0.02 1.672345 CCCxAGA COVERED NOVEL ECE1-008 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000007476.2 0 18.056224 KEEP 0 0 0 60 1987 GG 1 0.999895 0 - 7 60 243 0 0 16.857081 86 60 3165 158 ENST00000436918.2 0.075269 0.999895 ALPL 249 __UNKNOWN__ __UNKNOWN__ 1 21900372 21900372 __UNKNOWN__ Intron SNP G G A rs372711153 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:21900372G>A ENST00000374840.3 + 9 1247 ALPL_ENST00000539907.1_Intron|ALPL_ENST00000374830.1_Intron|ALPL_ENST00000374832.1_Intron|ALPL_ENST00000425315.2_Intron|ALPL_ENST00000540617.1_Intron NM_000478.4 NP_000469.3 P05186 PPBT_HUMAN alkaline phosphatase, liver/bone/kidney NA NA cellular response to organic cyclic compound (GO:0071407)|cementum mineralization (GO:0071529)|developmental process involved in reproduction (GO:0003006)|endochondral ossification (GO:0001958)|osteoblast differentiation (GO:0001649)|response to antibiotic (GO:0046677)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501) anchored component of membrane (GO:0031225)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 26 all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146) Amifostine(DB01143)|Fospropofol(DB06716) AGCTCTTAAAGGGAACTGACT 0.582 NA G||| 16 0.00319489 0.0 0.0 5008 , , NA 19087 0.0149 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC021289 CCDS217.1, CCDS53274.1, CCDS53275.1 1p36.12 2008-02-05 ENSG00000162551 ENSG00000162551 249 3.1.3.1 438 protein-coding gene gene with protein product 171760 HOPS NA 3532105, 3446011 Standard NM_000478 NM_001127501 NA Approved TNSALP uc001bet.3 P05186 OTTHUMG00000002949 ENST00000374840.3:c.997+80G>A chr1.hg19:g.21900372G>A NA A1A4E7|B2RMP8|B7Z387|B7Z4Y6|O75090|Q2TAI7|Q59EJ7|Q5BKZ5|Q5VTG5|Q6NZI8|Q8WU32|Q9UBK0 hg19 CCDS217.1 0.02 6.337669 AAAxGGA COVERED NOVEL ALPL-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000008202.1 1 12.038727 KEEP 0 0 0 40 1419 GG 1 1 0 + 9 60 310 0 0 20.059541 163 60 6104 267 ENST00000374840.3 0.052326 1 RAP1GAP 5909 __UNKNOWN__ __UNKNOWN__ 1 21934667 21934667 __UNKNOWN__ Intron SNP G G A rs829371 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:21934667G>A ENST00000374765.4 - 17 1497 RAP1GAP_ENST00000542643.2_Intron|RAP1GAP_ENST00000374761.2_Intron|RAP1GAP_ENST00000290101.4_Intron|RAP1GAP_ENST00000374763.2_Intron NM_002885.2 NP_002876.2 P47736 RPGP1_HUMAN RAP1 GTPase activating protein NA NA GTP catabolic process (GO:0006184)|positive regulation of Rap GTPase activity (GO:0032854)|regulation of Ras GTPase activity (GO:0032318)|signal transduction (GO:0007165) cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020) GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)|Rap GTPase activator activity (GO:0046582)|Ras GTPase binding (GO:0017016) breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1) 17 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146) CCCTAGCCACGTCCCTGCTCC 0.657 NA A||| 2246 0.448482 0.4675 0.3401 5008 , , NA 13069 0.4355 NA 0.502 False NA ,,, NA NA NA 2504 0.4581 NA NA NA NA 0 A ,, 2011,2393 611.8+/-391.8 473,1065,664 35 40 38 ,, -7 0 1 dbSNP_86 38 4467,4133 559.7+/-387.5 1152,2163,985 no intron,intron,intron RAP1GAP NM_001145657.1,NM_001145658.1,NM_002885.2 ,, 1625,3228,1649 AA,AG,GG 48.0581,45.663,49.8154 ,, ,, 21934667 6478,6526 2202 4300 6502 SO:0001627 intron_variant BC054490 CCDS218.1, CCDS53276.1, CCDS53277.1 1p36.1-p35 2009-09-14 2006-04-12 2006-04-12 ENSG00000076864 ENSG00000076864 5909 9858 protein-coding gene gene with protein product 600278 RAP1, GTPase activating protein 1 RAP1GA1 NA 1904317 Standard NM_002885 NM_001145657 NA Approved KIAA0474, RAP1GAP1, RAP1GAPII uc001bew.3 P47736 OTTHUMG00000007513 ENST00000374765.4:c.1296+38C>T chr1.hg19:g.21934667G>A NA J3QSS6|O75062|Q5T3S9|Q5T3T4|Q7Z5S8|Q9UQ51 hg19 CCDS218.1 0.02 4.214389 CACxTCC COVERED NOVEL RAP1GAP-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000019759.2 0 15.946819 KEEP 0 0 0 53 1749 GG 1 0.999999 0 - 9 60 328 0 0 23.181763 112 60 3761 223 ENST00000374765.4 0.07438 0.999999 RAP1GAP 5909 __UNKNOWN__ __UNKNOWN__ 1 21939493 21939493 __UNKNOWN__ Intron SNP G G C rs3767113 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:21939493G>C ENST00000374765.4 - 10 729 RAP1GAP_ENST00000542643.2_Intron|RAP1GAP_ENST00000374761.2_Intron|RAP1GAP_ENST00000290101.4_Intron|RAP1GAP_ENST00000374763.2_Intron NM_002885.2 NP_002876.2 P47736 RPGP1_HUMAN RAP1 GTPase activating protein NA NA GTP catabolic process (GO:0006184)|positive regulation of Rap GTPase activity (GO:0032854)|regulation of Ras GTPase activity (GO:0032318)|signal transduction (GO:0007165) cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020) GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)|Rap GTPase activator activity (GO:0046582)|Ras GTPase binding (GO:0017016) breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1) 17 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146) cctgggggaaggcacaggccc 0.527 NA G||| 1157 0.23103 0.2753 0.2133 5008 , , NA 19697 0.131 NA 0.3072 False NA ,,, NA NA NA 2504 0.2086 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC054490 CCDS218.1, CCDS53276.1, CCDS53277.1 1p36.1-p35 2009-09-14 2006-04-12 2006-04-12 ENSG00000076864 ENSG00000076864 5909 9858 protein-coding gene gene with protein product 600278 RAP1, GTPase activating protein 1 RAP1GA1 NA 1904317 Standard NM_002885 NM_001145657 NA Approved KIAA0474, RAP1GAP1, RAP1GAPII uc001bew.3 P47736 OTTHUMG00000007513 ENST00000374765.4:c.528+175C>G chr1.hg19:g.21939493G>C NA J3QSS6|O75062|Q5T3S9|Q5T3T4|Q7Z5S8|Q9UQ51 hg19 CCDS218.1 0.02 15.440863 GAAxGCA COVERED NOVEL RAP1GAP-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000019759.2 3 12.039749 KEEP 0 0 0 40 1467 GG 1 1 0 - 14 60 493 0 0 30.536928 348 60 12924 461 ENST00000374765.4 0.038674 1 LDLRAD2 401944 __UNKNOWN__ __UNKNOWN__ 1 22150257 22150257 __UNKNOWN__ 3'UTR SNP C C T rs3736357 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:22150257C>T ENST00000344642.2 + 0 2555 HSPG2_ENST00000374695.3_Intron|LDLRAD2_ENST00000543870.1_Intron|HSPG2_ENST00000486901.1_Intron NM_001013693.2 NP_001013715.2 Q5SZI1 LRAD2_HUMAN low density lipoprotein receptor class A domain containing 2 NA NA integral component of membrane (GO:0016021) endometrium(2)|large_intestine(1)|lung(3) 6 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197) ACTTCCTGGTCCTCCCCGGCC 0.612 NA C||| 1879 0.3752 0.0726 0.4611 5008 , , NA 15603 0.6488 NA 0.4801 False NA ,,, NA NA NA 2504 0.3333 NA NA NA NA 0 C , 621,3783 51,519,1632 23 24 23 , -0.1 0 1 dbSNP_107 23 4249,4351 1055,2139,1106 no utr-3,intron HSPG2,LDLRAD2 NM_001013693.2,NM_005529.5 , 1106,2658,2738 TT,TC,CC 49.407,14.1008,37.45 , , 22150257 4870,8134 2202 4300 6502 SO:0001624 3_prime_UTR_variant AL590103 CCDS30624.1 1p36.12 2008-02-05 2005-10-07 ENSG00000187942 ENSG00000187942 401944 32071 protein-coding gene gene with protein product low density lipoprotein receptor A domain containing 2 NA Standard NM_001013693 NM_001013693 NA Approved uc001bfg.1 Q5SZI1 OTTHUMG00000002675 ENST00000344642.2:c.*1549C>T chr1.hg19:g.22150257C>T NA B9EJB3|Q6ZSN5 hg19 CCDS30624.1 0.02 8.005281 GGTxCTC COVERED NOVEL LDLRAD2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000007601.1 1 6.454443 KEEP 0 1 27 31 1068 CC 0.999997 0.999997 0 + 10 60 356 0 0 22.905041 201 60 7142 267 ENST00000344642.2 0.047393 1 HSPG2 3339 __UNKNOWN__ __UNKNOWN__ 1 22179673 22179673 __UNKNOWN__ Intron SNP T T C rs12049614 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:22179673T>C ENST00000374695.3 - 51 6519 HSPG2_ENST00000430507.1_Intron NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 NA NA angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281) basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886) metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022) breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Palifermin(DB00039) GGCCGACAGGTGGCCTTTCTG 0.627 NA T||| 1892 0.377796 0.0938 0.4164 5008 , , NA 16196 0.6389 NA 0.501 False NA ,,, NA NA NA 2504 0.3384 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M85289 CCDS30625.1 1p36.1-p35 2013-01-29 2007-02-16 2007-02-16 ENSG00000142798 ENSG00000142798 3339 Proteoglycans / Extracellular Matrix : Other, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 5273 protein-coding gene gene with protein product perlecan proteoglycan 142461 Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia) SJS1 NA 1685141, 11941538 Standard NM_005529 XM_005245863 NA Approved perlecan, PRCAN uc001bfj.3 P98160 OTTHUMG00000002674 ENST00000374695.3:c.6440-110A>G chr1.hg19:g.22179673T>C NA Q16287|Q5SZI3|Q9H3V5 hg19 CCDS30625.1 0.02 1.230511 AGGxGGC COVERED NOVEL HSPG2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000007598.1 0 8.124169 KEEP 0 0 0 27 841 TT 0.999988 0.999936 0 - 5 60 153 0 0 9.123821 93 60 3369 133 ENST00000374695.3 0.05102 0.999948 HSPG2 3339 __UNKNOWN__ __UNKNOWN__ 1 22191454 22191454 __UNKNOWN__ Missense_Mutation SNP G G A rs897471 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:22191454G>A ENST00000374695.3 - 36 4587 c.4508C>T c.(4507-4509)gCg>gTg p.A1503V NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 1503 Laminin IV type A 3. {ECO:0000255|PROSITE-ProRule:PRU00458}. NA A -> V (in dbSNP:rs897471). {ECO:0000269|PubMed:11101850, ECO:0000269|PubMed:1569102, ECO:0000269|PubMed:1730768}. angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281) basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886) metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022) breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Palifermin(DB00039) GATGCTGGCCGCCAGCGGCAC 0.721 NA G||| 3463 0.691494 0.5893 0.781 5008 , , NA 13339 0.8889 NA 0.7256 False NA ,,, NA NA NA 2504 0.5276 NA NA NA NA 0 G VAL/ALA 2716,1666 835,1046,310 15 16 16 4508 4.4 0 1 dbSNP_86 16 6349,2235 2359,1631,302 yes missense HSPG2 NM_005529.5 64 3194,2677,612 AA,AG,GG 26.0368,38.0192,30.0864 probably-damaging 1503/4392 22191454 9065,3901 2191 4292 6483 SO:0001583 missense M85289 CCDS30625.1 1p36.1-p35 2013-01-29 2007-02-16 2007-02-16 ENSG00000142798 ENSG00000142798 3339 Proteoglycans / Extracellular Matrix : Other, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 5273 protein-coding gene gene with protein product perlecan proteoglycan 142461 Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia) SJS1 NA 1685141, 11941538 Standard NM_005529 XM_005245863 NA Approved perlecan, PRCAN uc001bfj.3 P98160 OTTHUMG00000002674 ENST00000374695.3:c.4508C>T chr1.hg19:g.22191454G>A ENSP00000363827:p.Ala1503Val NA Q16287|Q5SZI3|Q9H3V5 hg19 CCDS30625.1 0.02 5.564013 GCCxCCA COVERED 1621 0.7422161172161172 280 0.5691056910569106 278 0.7679558011049724 511 0.8933566433566433 552 0.7282321899736148 G 17.95 3.514289 0.64522 0.619808 0.739632 ENSG00000142798 ENST00000374695 T 0.36157 1.27 5.31 4.37 0.52481 Laminin B type IV (2);Laminin B, subgroup (1); 0.000000 0.38272 N 0.001754 T 0.00012 0.0000 L 0.47716 1.5 0.46901 P 7.519999999999749E-4 D 0.89917 1.0 D 0.85130 0.997 T 0.03829 -1.1000 9 0.52906 T 0.07 . 12.8191 0.57683 0.0:0.0:0.8353:0.1646 rs897471;rs59950494;rs897471 1503 P98160 PGBM_HUMAN V 1503 ENSP00000363827:A1503V ENSP00000363827:A1503V A - 2 0 HSPG2 22064041 0.069000 0.21087 0.012000 0.15200 0.310000 0.27922 2.260000 0.43267 1.192000 0.43071 0.467000 0.42956 GCG NOVEL HSPG2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000007598.1 0 16.553909 KEEP 0 0 0 55 1946 GG 1 1 0 - 8 60 276 0 0 17.632477 152 60 5515 261 ENST00000374695.3 0.05 1 CELA3B 23436 __UNKNOWN__ __UNKNOWN__ 1 22315750 22315750 __UNKNOWN__ Intron SNP T T C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:22315750T>C ENST00000337107.6 + 8 814 CELA3B_ENST00000473526.1_Intron NM_007352.2 NP_031378.1 P08861 CEL3B_HUMAN chymotrypsin-like elastase family, member 3B NA NA cholesterol metabolic process (GO:0008203)|proteolysis (GO:0006508) peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252) breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1) 8 CCCCAACTTTTCCAGACCATA 0.488 NA NA NA NA NA NA NA NA NA NA NA 0 19 19 19 NA NA 1 NA 22315750 1901 3624 5525 SO:0001627 intron_variant M18692 CCDS219.1 1p36.12 2009-05-05 2009-05-05 2009-05-05 ENSG00000219073 ENSG00000219073 23436 3.4.21.70 15945 protein-coding gene gene with protein product proteinase E, elastase 1, cholesterol-binding pancreatic protease, pancreatic endopeptidase E elastase 3B, pancreatic ELA3B NA 2826474, 2460440 Standard NM_007352 NM_007352 NA Approved CBPP uc001bfk.3 P08861 OTTHUMG00000002758 ENST00000337107.6:c.796-5T>C chr1.hg19:g.22315750T>C NA B2RE44|P11423|Q5VU28|Q5VU29|Q5VU30 hg19 CCDS219.1 0.02 2.911874 TTTxCCA COVERED NOVEL CELA3B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000007797.1 1 14.844861 KEEP 370 13 93 86 2293 TT 0.999909 0.999909 0 + 41 40 339 0 2 10.417059 166 40 3318 966 ENST00000337107.6 0.198068 1 CELA3A 10136 __UNKNOWN__ __UNKNOWN__ 1 22332608 22332608 __UNKNOWN__ Intron SNP T T A rs77328205 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:22332608T>A ENST00000290122.3 + 4 381 NM_005747.4 NP_005738.4 P09093 CEL3A_HUMAN chymotrypsin-like elastase family, member 3A NA NA cholesterol metabolic process (GO:0008203)|digestion (GO:0007586)|proteolysis (GO:0006508) serine-type endopeptidase activity (GO:0004252) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 CCTTCCCCCATATCCGAGGGT 0.577 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D00306 CCDS220.1 1p36.12 2009-05-05 2009-05-05 2009-05-05 ENSG00000142789 ENSG00000142789 10136 15944 protein-coding gene gene with protein product protease E elastase 3A, pancreatic (protease E), elastase 3A, pancreatic ELA3A NA 2826474, 2460440 Standard NM_005747 NM_005747 NA Approved ELA3 P09093 OTTHUMG00000002755 ENST00000290122.3:c.362+319T>A chr1.hg19:g.22332608T>A NA B1AQ53|Q9BRW4 hg19 CCDS220.1 0.02 8.527759 CCAxATC COVERED NOVEL CELA3A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000007791.1 2 6.016706 KEEP 0 0 0 20 596 TT 0.999863 0.999863 0 + 7 36 254 0 0 15.538534 195 60 6795 298 ENST00000290122.3 0.034653 1 ZBTB40 9923 __UNKNOWN__ __UNKNOWN__ 1 22849003 22849003 __UNKNOWN__ Intron SNP A A C rs998978 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:22849003A>C ENST00000375647.4 + 16 3505 ZBTB40_ENST00000374651.4_Intron|ZBTB40_ENST00000404138.1_Intron NM_014870.3 NP_055685.3 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 NA NA bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) cggggcctgaatctcccctcc 0.517 NA A||| 1593 0.318091 0.1225 0.2219 5008 , , NA 18624 0.4692 NA 0.3926 False NA ,,, NA NA NA 2504 0.4182 NA NA NA NA 0 A , 705,3701 293.6+/-282.7 62,581,1560 97 85 89 , -7.3 0 1 dbSNP_86 89 3174,5426 478.9+/-370.0 576,2022,1702 no intron,intron ZBTB40 NM_001083621.1,NM_014870.3 , 638,2603,3262 CC,CA,AA 36.907,16.0009,29.8247 , , 22849003 3879,9127 2203 4300 6503 SO:0001627 intron_variant AB007947 CCDS224.1 1p36 2013-01-08 ENSG00000184677 ENSG00000184677 9923 -, Zinc fingers, C2H2-type, BTB/POZ domain containing 29045 protein-coding gene gene with protein product 612106 NA Standard NM_014870 NM_014870 NA Approved KIAA0478, ZNF923 uc001bfu.2 Q9NUA8 OTTHUMG00000002897 ENST00000375647.4:c.3298+47A>C chr1.hg19:g.22849003A>C NA O75066|Q5TFU5|Q8N1R1 hg19 CCDS224.1 0.02 2.168492 TGAxTCT COVERED NOVEL ZBTB40-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000008094.1 1 2.707959 KEEP 0 0 0 9 272 AA 0.99254 0.991952 0 + 6 60 231 0 0 16.644046 76 60 2705 93 ENST00000375647.4 0.073171 0.999407 ZBTB40 9923 __UNKNOWN__ __UNKNOWN__ 1 22853141 22853141 __UNKNOWN__ 3'UTR SNP G G A rs2281354 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:22853141G>A ENST00000375647.4 + 0 4179 ZBTB40_ENST00000374651.4_3'UTR|ZBTB40_ENST00000404138.1_3'UTR NM_014870.3 NP_055685.3 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 NA NA bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) CCGCTGCTGCGGCCTCTATGA 0.572 NA G||| 1191 0.237819 0.0197 0.1556 5008 , , NA 20068 0.3214 NA 0.3569 False NA ,,, NA NA NA 2504 0.3824 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB007947 CCDS224.1 1p36 2013-01-08 ENSG00000184677 ENSG00000184677 9923 -, Zinc fingers, C2H2-type, BTB/POZ domain containing 29045 protein-coding gene gene with protein product 612106 NA Standard NM_014870 NM_014870 NA Approved KIAA0478, ZNF923 uc001bfu.2 Q9NUA8 OTTHUMG00000002897 ENST00000375647.4:c.*252G>A chr1.hg19:g.22853141G>A NA O75066|Q5TFU5|Q8N1R1 hg19 CCDS224.1 0.02 10.897502 TGCxGCC COVERED NOVEL ZBTB40-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000008094.1 2 5.285478 KEEP 0 2 55 37 1256 GG 1 1 0 + 14 60 497 0 0 32.14172 276 60 9562 392 ENST00000375647.4 0.048276 1 ZBTB40 9923 __UNKNOWN__ __UNKNOWN__ 1 22856601 22856601 __UNKNOWN__ 3'UTR SNP T T C rs1062663 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:22856601T>C ENST00000375647.4 + 0 7639 ZBTB40_ENST00000404138.1_3'UTR NM_014870.3 NP_055685.3 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 NA NA bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) TAACCATGTATAGAGTGGGCA 0.502 NA T||| 1650 0.329473 0.1626 0.2205 5008 , , NA 20492 0.4702 NA 0.3976 False NA ,,, NA NA NA 2504 0.4172 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB007947 CCDS224.1 1p36 2013-01-08 ENSG00000184677 ENSG00000184677 9923 -, Zinc fingers, C2H2-type, BTB/POZ domain containing 29045 protein-coding gene gene with protein product 612106 NA Standard NM_014870 NM_014870 NA Approved KIAA0478, ZNF923 uc001bfu.2 Q9NUA8 OTTHUMG00000002897 ENST00000375647.4:c.*3712T>C chr1.hg19:g.22856601T>C NA O75066|Q5TFU5|Q8N1R1 hg19 CCDS224.1 0.02 6.822336 GTAxAGA COVERED NOVEL ZBTB40-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000008094.1 2 13.537959 KEEP 0 0 0 45 1346 TT 1 1 0 + 8 60 305 0 0 19.972539 179 60 6458 278 ENST00000375647.4 0.042781 1 EPHB2 2048 __UNKNOWN__ __UNKNOWN__ 1 23101836 23101836 __UNKNOWN__ Intron SNP C C A rs114369626 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:23101836C>A ENST00000374632.3 + 2 74 EPHB2_ENST00000400191.3_Intron|EPHB2_ENST00000374630.3_Intron|EPHB2_ENST00000544305.1_Intron|EPHB2_ENST00000374627.1_Intron P29323 EPHB2_HUMAN EPH receptor B2 NA NA angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655) axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025) ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005) NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1) 56 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) atttagagggccctggccagc 0.453 NA C||| 217 0.0433307 0.0068 0.0807 5008 , , NA 19986 0.0516 NA 0.0338 False NA ,,, NA NA NA 2504 0.0675 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF025304 CCDS229.2, CCDS230.1 1p36.1-p35 2014-09-17 2004-10-28 ENSG00000133216 ENSG00000133216 2048 2.7.10.1 EPH receptors, Sterile alpha motif (SAM) domain containing, Fibronectin type III domain containing 3393 protein-coding gene gene with protein product 600997 EphB2 DRT, ERK, EPHT3 NA 1648701 Standard NM_017449 NM_017449 NA Approved Hek5, Tyro5 uc001bge.3 P29323 OTTHUMG00000002881 ENST00000374632.3:c.62-6078C>A chr1.hg19:g.23101836C>A NA O43477|Q5T0U6|Q5T0U7|Q5T0U8 hg19 CCDS230.1 0.02 4.047569 GGGxCCT COVERED NOVEL EPHB2-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000008061.2 4 12.941951 KEEP 0 0 0 43 1514 CC 1 1 0 + 7 60 246 0 0 15.876527 133 60 4781 214 ENST00000374632.3 0.05 1 MDS2 259283 __UNKNOWN__ __UNKNOWN__ 1 23965704 23965704 __UNKNOWN__ Missense_Mutation SNP A A C rs10917403 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:23965704A>C ENST00000374555.3 + 5 696 c.109A>C c.(109-111)Aat>Cat p.N37H MDS2_ENST00000477916.1_Intron Q8NDY4 MDS2_HUMAN myelodysplastic syndrome 2 translocation associated 37 NA extracellular space (GO:0005615) breast(1)|ovary(2) 3 GCTTAATGTTAATCTCTCCAA 0.473 NA T ETV6 MDS C||| 1374 0.274361 0.0756 0.3963 5008 , , NA 18926 0.4315 NA 0.2505 False NA ,,, NA NA NA 2504 0.319 NA NA NA Dom yes 1 1p36 259283 myelodysplastic syndrome 2 L 0 C 212,1540 9,194,673 40 34 36 1.2 0 1 dbSNP_120 36 952,3030 108,736,1147 no intergenic 117,930,1820 CC,CA,AA 23.9076,12.1005,20.3 23965704 1164,4570 876 1991 2867 SO:0001583 missense AJ310434 1p36 2008-02-05 ENSG00000197880 ENSG00000197880 259283 29633 protein-coding gene gene with protein product 607305 NA 12203785 Standard NM_148895 NR_027042 NA Approved uc001bhi.3 Q8NDY4 OTTHUMG00000002927 ENST00000374555.3:c.109A>C chr1.hg19:g.23965704A>C ENSP00000363683:p.Asn37His NA hg19 0.02 9.751542 GTTxATC COVERED 612 0.2802197802197802 43 0.08739837398373984 135 0.3729281767955801 236 0.4125874125874126 198 0.2612137203166227 C 1.384 -0.582502 0.03827 0.121005 0.239076 ENSG00000197880 ENST00000374555 . . . 2.2 1.19 0.21007 . . . . . T 0.00012 0.0000 . . . 0.80722 P 0.0 . . . . . . T 0.40924 -0.9537 4 0.87932 D 0 . 6.8255 0.23880 0.6025:0.3975:0.0:0.0 rs10917403;rs52792863;rs61141547;rs10917403 . . . H 37 . ENSP00000363683:N37H N + 1 0 MDS2 23838291 0.000000 0.05858 0.001000 0.08648 0.001000 0.01503 -1.009000 0.03660 0.001000 0.14605 -0.358000 0.07595 AAT NOVEL MDS2-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000008172.1 2 19.554649 KEEP 0 0 0 65 1974 AA 1 1 0 + 8 60 309 0 0 20.04697 197 60 7073 337 ENST00000374555.3 0.039024 1 MDS2 259283 __UNKNOWN__ __UNKNOWN__ 1 23965762 23965762 __UNKNOWN__ Intron SNP A A G rs560715000 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:23965762A>G ENST00000374555.3 + 5 733 MDS2_ENST00000477916.1_Intron Q8NDY4 MDS2_HUMAN myelodysplastic syndrome 2 translocation associated NA NA extracellular space (GO:0005615) breast(1)|ovary(2) 3 TGACTCTACTATGTCCCTAGA 0.468 NA T ETV6 MDS A||| 3 0.000599042 0.0 0.0 5008 , , NA 20442 0.002 NA 0.001 False NA ,,, NA NA NA 2504 0.0 NA NA NA Dom yes 1 1p36 259283 myelodysplastic syndrome 2 L 0 33 28 30 NA NA 1 NA 23965762 876 1991 2867 SO:0001627 intron_variant AJ310434 1p36 2008-02-05 ENSG00000197880 ENSG00000197880 259283 29633 protein-coding gene gene with protein product 607305 NA 12203785 Standard NM_148895 NR_027042 NA Approved uc001bhi.3 Q8NDY4 OTTHUMG00000002927 ENST00000374555.3:c.146+21A>G chr1.hg19:g.23965762A>G NA hg19 0.02 6.594996 ACTxTGT COVERED NOVEL MDS2-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000008172.1 1 10.830174 KEEP 0 0 0 36 1083 AA 0.999999 0.999999 0 + 7 60 252 0 0 16.141384 149 60 5507 235 ENST00000374555.3 0.044872 1 TCEB3 6924 __UNKNOWN__ __UNKNOWN__ 1 24083649 24083649 __UNKNOWN__ Intron SNP T T C rs2076346 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:24083649T>C ENST00000609199.1 + 10 2289 TCEB3_ENST00000418390.2_Intron Q14241 ELOA1_HUMAN transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A) NA NA gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032) extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654) DNA binding (GO:0003677) breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 19 Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187) CAAATATTATTTCAGCACTAG 0.418 NA T||| 1467 0.292931 0.0885 0.2133 5008 , , NA 23852 0.5169 NA 0.2575 False NA ,,, NA NA NA 2504 0.4315 NA NA NA NA 0 T 571,3835 248.4+/-256.2 48,475,1680 38 39 38 -0.6 0 1 dbSNP_96 38 2036,6564 346.4+/-326.2 246,1544,2510 no intron TCEB3 NM_003198.2 294,2019,4190 CC,CT,TT 23.6744,12.9596,20.0446 24083649 2607,10399 2203 4300 6503 SO:0001627 intron_variant L47345 CCDS239.2 1p36.1 2010-06-22 2002-08-29 ENSG00000011007 ENSG00000011007 6924 11620 protein-coding gene gene with protein product 600786 transcription elongation factor B (SIII), polypeptide 3 (110kD, elongin A) NA 8586449, 7660129 Standard NM_003198 NM_003198 NA Approved SIII, TCEB3A uc001bho.3 Q14241 OTTHUMG00000002957 ENST00000609199.1:c.2257+34T>C chr1.hg19:g.24083649T>C NA B2R7Q8|Q8IXH1 hg19 0.02 5.15419 TATxTCA COVERED NOVEL TCEB3-003 NOVEL basic|appris_principal protein_coding NA protein_coding OTTHUMT00000471733.1 0 9.329087 KEEP 0 0 0 31 1010 TT 0.999997 0.999982 0 + 5 60 199 0 0 13.559099 100 60 3601 171 ENST00000609199.1 0.047619 0.999984 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 24171543 24171543 __UNKNOWN__ IGR SNP C C G rs4649119 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:24171543C>G NA NA HMGCL (6433 upstream) : FUCA1 (23 downstream) NA NA NA TAAGTTGAAACTAGGAAAAGA 0.289 NA C||| 1715 0.342452 0.1823 0.3617 5008 , , NA 18724 0.499 NA 0.4225 False NA ,,, NA NA NA 2504 0.3016 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.24171543C>G NA hg19 0.02 -0.412329 AAAxTAG COVERED NOVEL 0 0 3.611577 KEEP 0 0 0 12 413 CC 0.993634 0.935746 0 3 60 114 0 0 7.98701 44 60 1600 62 0.06383 0.941741 PNRC2 55629 __UNKNOWN__ __UNKNOWN__ 1 24288193 24288193 __UNKNOWN__ Missense_Mutation SNP G G C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:24288193G>C ENST00000334351.7 + 3 657 c.246G>C c.(244-246)agG>agC p.R82S PNRC2_ENST00000374468.1_Missense_Mutation_p.R82S NM_017761.3 NP_060231.1 Q9NPJ4 PNRC2_HUMAN proline-rich nuclear receptor coactivator 2 82 NA deadenylation-independent decapping of nuclear-transcribed mRNA (GO:0031087)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasmic mRNA processing body (GO:0000932)|nucleus (GO:0005634) NA Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.0034)|all_lung(284;0.00519)|Myeloproliferative disorder(586;0.0393)|Breast(348;0.0448)|Ovarian(437;0.0561) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;8.59e-24)|Colorectal(126;2.18e-08)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;2.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|KIRC - Kidney renal clear cell carcinoma(1967;0.00325)|STAD - Stomach adenocarcinoma(196;0.00841)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.141) CAGGTCCCAGGTTACTTTTTA 0.443 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense AF151042 CCDS246.1 1p36.11 2008-02-05 ENSG00000189266 ENSG00000189266 55629 23158 protein-coding gene gene with protein product 611882 NA 11574675 Standard NM_017761 NM_017761 NA Approved uc001big.3 Q9NPJ4 OTTHUMG00000013891 ENST00000334351.7:c.246G>C chr1.hg19:g.24288193G>C ENSP00000334840:p.Arg82Ser NA B4DU72 hg19 CCDS246.1 0.02 7.207598 CAGxTTA COVERED . . . . . . . . . . g 0.437 -0.900520 0.02472 . . ENSG00000189266 ENST00000334351;ENST00000374468 T;T 0.40756 1.02;1.02 3.59 1.69 0.24217 . 0.423369 0.21276 N 0.077225 T 0.12689 0.0308 N 0.01352 -0.895 0.21841 N 0.999512 B 0.02656 0.0 B 0.01281 0.0 T 0.28299 -1.0048 9 . . . -30.5121 6.1468 0.20291 0.0:0.5361:0.291:0.1729 . 82 Q9NPJ4 PNRC2_HUMAN S 82 ENSP00000334840:R82S;ENSP00000363592:R82S . R + 3 2 PNRC2 24160780 0.826000 0.29277 0.915000 0.36163 0.981000 0.71138 0.364000 0.20325 0.342000 0.23796 -0.224000 0.12420 AGG NOVEL PNRC2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000038946.1 3 11.245726 KEEP 15 3 111 76 2670 GG 1 1 0 + 6 27 229 0 0 14.575962 159 60 5760 297 ENST00000334351.7 0.036364 1 SRSF10 10772 __UNKNOWN__ __UNKNOWN__ 1 24298263 24298263 __UNKNOWN__ Intron SNP T T C rs116679590 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:24298263T>C ENST00000492112.2 - 4 501 SRSF10_ENST00000374452.5_Intron|SRSF10_ENST00000484146.2_Intron|SRSF10_ENST00000453840.3_Intron|SRSF10_ENST00000343255.5_Intron|SRSF10_ENST00000341154.6_Intron|SRSF10_ENST00000344989.6_Intron|SRSF10_ENST00000374453.3_Intron O75494 SRS10_HUMAN serine/arginine-rich splicing factor 10 NA NA cytoplasmic transport (GO:0016482)|mRNA export from nucleus (GO:0006406)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal tri-snRNP complex assembly (GO:0000244) cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RS domain binding (GO:0050733)|unfolded protein binding (GO:0051082) NA attaaaagtatacaaaatagt 0.249 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF047448 CCDS30629.1, CCDS30630.1, CCDS53280.1, CCDS53281.1, CCDS53282.1, CCDS53283.1, CCDS72728.1 1p36.11 2014-06-13 2010-06-22 2010-06-22 ENSG00000188529 ENSG00000188529 10772 Serine/arginine-rich splicing factors, RNA binding motif (RRM) containing 16713 protein-coding gene gene with protein product splicing factor, arginine/serine-rich 13, SR splicing factor 10, protein phosphatase 1, regulatory subunit 149 605221 FUS-interacting protein (serine-arginine rich) 2, FUS interacting protein (serine/arginine-rich) 1, splicing factor, arginine/serine-rich 13A, neural-salient SR protein FUSIP2, FUSIP1, SFRS13A NA 11891055, 20516191 Standard NM_006625 XM_006710298 NA Approved TASR1, TASR2, SRp38, SRrp40, SFRS13, PPP1R149 uc021oir.1 O75494 OTTHUMG00000013893 ENST00000492112.2:c.437+76A>G chr1.hg19:g.24298263T>C NA A6NFM6|A6NI42|A6NIU7|B4DJP9|O60572|Q5JRH9|Q5JRI0|Q5JRI2|Q5JRI3|Q5JRI4|Q96G09|Q96P17 hg19 CCDS30630.1 0.02 -0.289501 GTAxACA COVERED NOVEL SRSF10-001 KNOWN non_canonical_U12|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000038950.2 1 4.510388 KEEP 0 0 0 15 431 TT 0.99649 0.758216 0 - 3 60 113 0 0 8.36611 30 60 1065 49 ENST00000492112.2 0.090909 0.760887 IL22RA1 58985 __UNKNOWN__ __UNKNOWN__ 1 24447116 24447116 __UNKNOWN__ 3'UTR SNP C C T rs3795302 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:24447116C>T ENST00000270800.1 - 0 1942 NM_021258.3 NP_067081.2 Q8N6P7 I22R1_HUMAN interleukin 22 receptor, alpha 1 NA NA cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829) integral component of membrane (GO:0016021) interferon receptor activity (GO:0004904) breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 19 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148) TGCTGCTTTGCTCCGGTGAGG 0.627 NA C||| 2438 0.486821 0.2814 0.5504 5008 , , NA 19870 0.7262 NA 0.4095 False NA ,,, NA NA NA 2504 0.5521 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF286095 CCDS247.1 1p36.11 2009-10-06 2002-12-02 2002-12-06 ENSG00000142677 ENSG00000142677 58985 Interleukins and interleukin receptors 13700 protein-coding gene gene with protein product 605457 interleukin 22 receptor IL22R NA 10875937 Standard NM_021258 NA Approved CRF2-9 uc001biq.2 Q8N6P7 OTTHUMG00000003041 ENST00000270800.1:c.*179G>A chr1.hg19:g.24447116C>T NA A8K839|B2R9Y9|Q9HB22 hg19 CCDS247.1 0.02 5.926963 TTGxTCC COVERED NOVEL IL22RA1-001 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000008412.1 1 6.922408 KEEP 0 0 0 23 823 CC 0.999892 0.999892 0 - 10 60 347 0 0 23.123499 154 60 5687 207 ENST00000270800.1 0.060976 1 IL22RA1 58985 __UNKNOWN__ __UNKNOWN__ 1 24447468 24447468 __UNKNOWN__ Missense_Mutation SNP G G C rs3795299 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:24447468G>C ENST00000270800.1 - 7 1590 c.1552C>G c.(1552-1554)Cgt>Ggt p.R518G NM_021258.3 NP_067081.2 Q8N6P7 I22R1_HUMAN interleukin 22 receptor, alpha 1 518 NA R -> G (in dbSNP:rs3795299). {ECO:0000269|PubMed:10875937, ECO:0000269|PubMed:14702039}. cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829) integral component of membrane (GO:0016021) interferon receptor activity (GO:0004904) breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 19 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148) GAACATGGACGGGAAGGAGGT 0.627 NA G||| 2335 0.466254 0.2874 0.4035 5008 , , NA 19250 0.7252 NA 0.3996 False NA ,,, NA NA NA 2504 0.5542 NA NA NA NA 0 G GLY/ARG 1339,3067 446.7+/-348.1 218,903,1082 82 71 75 1552 4.2 0.2 1 dbSNP_107 75 3507,5093 511.1+/-377.6 723,2061,1516 yes missense IL22RA1 NM_021258.3 125 941,2964,2598 CC,CG,GG 40.7791,30.3904,37.2597 benign 518/575 24447468 4846,8160 2203 4300 6503 SO:0001583 missense AF286095 CCDS247.1 1p36.11 2009-10-06 2002-12-02 2002-12-06 ENSG00000142677 ENSG00000142677 58985 Interleukins and interleukin receptors 13700 protein-coding gene gene with protein product 605457 interleukin 22 receptor IL22R NA 10875937 Standard NM_021258 NA Approved CRF2-9 uc001biq.2 Q8N6P7 OTTHUMG00000003041 ENST00000270800.1:c.1552C>G chr1.hg19:g.24447468G>C ENSP00000270800:p.Arg518Gly NA A8K839|B2R9Y9|Q9HB22 hg19 CCDS247.1 0.02 4.375707 GACxGGA COVERED 961 0.440018315018315 140 0.2845528455284553 127 0.35082872928176795 407 0.7115384615384616 287 0.3786279683377309 G 7.672 0.687230 0.14973 0.303904 0.407791 ENSG00000142677 ENST00000270800 T 0.08282 3.11 5.17 4.24 0.50183 . 1.536800 0.03697 N 0.248041 T 0.00012 0.0000 N 0.08118 0 0.80722 P 0.0 B 0.27416 0.178 B 0.22386 0.039 T 0.36578 -0.9742 9 0.27082 T 0.32 -1.3849 11.3002 0.49300 0.0:0.1921:0.8079:0.0 rs3795299;rs17256862;rs3795299 518 Q8N6P7 I22R1_HUMAN G 518 ENSP00000270800:R518G ENSP00000270800:R518G R - 1 0 IL22RA1 24320055 0.973000 0.33851 0.173000 0.22940 0.006000 0.05464 1.837000 0.39201 1.394000 0.46624 0.650000 0.86243 CGT NOVEL IL22RA1-001 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000008412.1 2 3.611513 KEEP 0 0 0 12 408 GG 0.993634 0.993633 0 - 10 60 328 0 0 22.047671 127 60 4274 163 ENST00000270800.1 0.072993 1 IL22RA1 58985 __UNKNOWN__ __UNKNOWN__ 1 24465113 24465113 __UNKNOWN__ Silent SNP C C T rs10903022 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:24465113C>T ENST00000270800.1 - 2 173 c.135G>A c.(133-135)ccG>ccA p.P45P NM_021258.3 NP_067081.2 Q8N6P7 I22R1_HUMAN interleukin 22 receptor, alpha 1 45 Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}. NA cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829) integral component of membrane (GO:0016021) interferon receptor activity (GO:0004904) breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 19 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148) GGGTGCCCTCCGGCCCGCTGT 0.582 NA C||| 2357 0.470647 0.261 0.5231 5008 , , NA 20665 0.7619 NA 0.3628 False NA ,,, NA NA NA 2504 0.5276 NA NA NA NA 0 C 1200,3206 418.3+/-338.2 167,866,1170 97 92 93 135 -5.4 0 1 dbSNP_120 93 3278,5322 490.9+/-373.0 635,2008,1657 no coding-synonymous IL22RA1 NM_021258.3 802,2874,2827 TT,TC,CC 38.1163,27.2356,34.4303 45/575 24465113 4478,8528 2203 4300 6503 SO:0001819 synonymous_variant AF286095 CCDS247.1 1p36.11 2009-10-06 2002-12-02 2002-12-06 ENSG00000142677 ENSG00000142677 58985 Interleukins and interleukin receptors 13700 protein-coding gene gene with protein product 605457 interleukin 22 receptor IL22R NA 10875937 Standard NM_021258 NA Approved CRF2-9 uc001biq.2 Q8N6P7 OTTHUMG00000003041 ENST00000270800.1:c.135G>A chr1.hg19:g.24465113C>T NA A8K839|B2R9Y9|Q9HB22 hg19 CCDS247.1 0.02 11.217772 CTCxGGC COVERED NOVEL IL22RA1-001 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000008412.1 2 6.890164 KEEP 0 2 63 45 1539 CC 1 1 0 - 15 60 524 1 0 34.465633 261 60 9253 419 ENST00000270800.1 0.054348 1 STPG1 90529 __UNKNOWN__ __UNKNOWN__ 1 24695749 24695749 __UNKNOWN__ Intron SNP C C G rs35671964 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:24695749C>G ENST00000374409.1 - 7 992 STPG1_ENST00000468303.1_Intron|STPG1_ENST00000003583.8_Intron|STPG1_ENST00000337248.4_Intron|STPG1_ENST00000440416.1_Intron NM_001199012.1 NP_001185941.1 Q5TH74 STPG1_HUMAN sperm-tail PG-rich repeat containing 1 NA NA apoptotic process (GO:0006915) cytoplasm (GO:0005737)|nucleus (GO:0005634) NA TTTTATGTTACAAAAATAGAA 0.463 NA C||| 1496 0.298722 0.1589 0.4337 5008 , , NA 18343 0.4157 NA 0.3549 False NA ,,, NA NA NA 2504 0.2137 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC047705 CCDS253.1, CCDS55581.1 1p36.11 2012-10-31 2012-07-30 2012-07-30 ENSG00000001460 ENSG00000001460 90529 28070 protein-coding gene gene with protein product O6-methylguanine-induced apoptosis 2 615826 chromosome 1 open reading frame 201 C1orf201 NA 23028632 Standard NM_178122 NM_001199012 NA Approved FLJ33340, MAPO2 uc001bjc.3 Q5TH74 OTTHUMG00000003297 ENST00000374409.1:c.737+414G>C chr1.hg19:g.24695749C>G NA Q49AP0|Q6P3R4|Q86VU9|Q8WVQ3 hg19 CCDS55581.1 0.02 9.077431 TTAxAAA COVERED NOVEL STPG1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000009172.1 2 12.64115 KEEP 0 0 0 42 1505 CC 1 1 0 - 7 60 268 0 0 16.604038 218 60 8138 316 ENST00000374409.1 0.031111 1 STPG1 90529 __UNKNOWN__ __UNKNOWN__ 1 24718075 24718075 __UNKNOWN__ Silent SNP T T C rs2294520 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:24718075T>C ENST00000374409.1 - 3 419 c.165A>G c.(163-165)caA>caG p.Q55Q STPG1_ENST00000468303.1_5'UTR|STPG1_ENST00000003583.8_Intron|STPG1_ENST00000337248.4_Silent_p.Q55Q|STPG1_ENST00000440416.1_Intron NM_001199012.1 NP_001185941.1 Q5TH74 STPG1_HUMAN sperm-tail PG-rich repeat containing 1 55 NA apoptotic process (GO:0006915) cytoplasm (GO:0005737)|nucleus (GO:0005634) NA ATCTCTTGGCTTGACTATTGA 0.413 NA OREG0013240 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) T||| 1411 0.281749 0.0961 0.379 5008 , , NA 18074 0.4593 NA 0.2753 False NA ,,, NA NA NA 2504 0.2873 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001819 synonymous_variant BC047705 CCDS253.1, CCDS55581.1 1p36.11 2012-10-31 2012-07-30 2012-07-30 ENSG00000001460 ENSG00000001460 90529 28070 protein-coding gene gene with protein product O6-methylguanine-induced apoptosis 2 615826 chromosome 1 open reading frame 201 C1orf201 NA 23028632 Standard NM_178122 NM_001199012 NA Approved FLJ33340, MAPO2 uc001bjc.3 Q5TH74 OTTHUMG00000003297 ENST00000374409.1:c.165A>G chr1.hg19:g.24718075T>C 773 Q49AP0|Q6P3R4|Q86VU9|Q8WVQ3 hg19 CCDS55581.1 0.02 10.224485 GGCxTGA COVERED 642 0.29395604395604397 49 0.09959349593495935 125 0.3453038674033149 256 0.44755244755244755 212 0.2796833773087071 T 9.576 1.122403 0.20877 . . ENSG00000001460 ENST00000435187 . . . 5.28 5.28 0.74379 . . . . . T 0.00012 0.0000 . . . 0.09310 P 1.0 . . . . . . T 0.50189 -0.8857 3 . . . 0.6438 11.8884 0.52615 0.0:0.0:0.0:1.0 rs2294520;rs11553729;rs59582005;rs2294520 . . . R 32 . . K - 2 0 C1orf201 24590662 1.000000 0.71417 1.000000 0.80357 0.943000 0.58893 3.953000 0.56699 2.130000 0.65690 0.533000 0.62120 AAG NOVEL STPG1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000009172.1 3 14.414274 KEEP 0 2 75 74 2363 TT 1 1 0 - 11 60 424 0 0 28.961536 197 60 7405 376 ENST00000374409.1 0.052885 1 NIPAL3 57185 __UNKNOWN__ __UNKNOWN__ 1 24746205 24746205 __UNKNOWN__ Intron SNP C C T rs12125143 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:24746205C>T ENST00000374399.4 + 2 461 NIPAL3_ENST00000339255.2_Intron|NIPAL3_ENST00000488155.1_3'UTR|NIPAL3_ENST00000003912.3_Intron|NIPAL3_ENST00000428131.1_Intron|NIPAL3_ENST00000358028.4_Intron NM_020448.4 NP_065181.1 Q6P499 NPAL3_HUMAN NIPA-like domain containing 3 NA NA integral component of membrane (GO:0016021) magnesium ion transmembrane transporter activity (GO:0015095) endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1) 14 CATTGGCTAACAGATATGTAT 0.483 NA C||| 1538 0.307109 0.1989 0.389 5008 , , NA 22699 0.4415 NA 0.2783 False NA ,,, NA NA NA 2504 0.2863 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BX640883 CCDS30631.1 1p36.12-p35.1 2009-03-24 2009-03-24 ENSG00000001461 ENSG00000001461 57185 25233 protein-coding gene gene with protein product NPAL3 NA 8619474, 9110174 Standard NM_020448 NM_020448 NA Approved DJ462O23.2 uc001bjh.3 Q6P499 OTTHUMG00000003299 ENST00000374399.4:c.93+75C>T chr1.hg19:g.24746205C>T NA A2A298|Q6MZT9|Q9BVE6 hg19 CCDS30631.1 0.02 10.275948 TAAxAGA COVERED NOVEL NIPAL3-007 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000276996.1 3 13.715384 KEEP 0 2 64 68 2441 CC 1 1 0 + 8 60 286 0 0 16.640917 273 60 10555 464 ENST00000374399.4 0.02847 1 NIPAL3 57185 __UNKNOWN__ __UNKNOWN__ 1 24785393 24785393 __UNKNOWN__ Silent SNP C C T rs2272935 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:24785393C>T ENST00000374399.4 + 9 1157 c.789C>T c.(787-789)gcC>gcT p.A263A NIPAL3_ENST00000003912.3_Silent_p.A181A|NIPAL3_ENST00000339255.2_Silent_p.A263A NM_020448.4 NP_065181.1 Q6P499 NPAL3_HUMAN NIPA-like domain containing 3 263 NA integral component of membrane (GO:0016021) magnesium ion transmembrane transporter activity (GO:0015095) endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1) 14 TGAGTCAAGCCTCACAGATGT 0.463 NA C||| 1534 0.30631 0.1589 0.4409 5008 , , NA 20800 0.4534 NA 0.2773 False NA ,,, NA NA NA 2504 0.2883 NA NA NA NA 0 C 704,3702 295.0+/-283.4 49,606,1548 215 176 189 789 1.6 1 1 dbSNP_100 189 2253,6347 382.3+/-340.3 281,1691,2328 no coding-synonymous NIPAL3 NM_020448.4 330,2297,3876 TT,TC,CC 26.1977,15.9782,22.7357 263/407 24785393 2957,10049 2203 4300 6503 SO:0001819 synonymous_variant BX640883 CCDS30631.1 1p36.12-p35.1 2009-03-24 2009-03-24 ENSG00000001461 ENSG00000001461 57185 25233 protein-coding gene gene with protein product NPAL3 NA 8619474, 9110174 Standard NM_020448 NM_020448 NA Approved DJ462O23.2 uc001bjh.3 Q6P499 OTTHUMG00000003299 ENST00000374399.4:c.789C>T chr1.hg19:g.24785393C>T NA A2A298|Q6MZT9|Q9BVE6 hg19 CCDS30631.1 0.02 6.566676 AGCxTCA COVERED 697 0.3191391941391941 77 0.1565040650406504 148 0.4088397790055249 260 0.45454545454545453 212 0.2796833773087071 C 16.35 3.098373 0.56183 0.159782 0.261977 ENSG00000001461 ENST00000432012 . . . 5.86 1.62 0.23740 . . . . . T 0.00012 0.0000 . . . 0.09310 P 1.0 . . . . . . T 0.45862 -0.9232 3 . . . -24.4414 1.4986 0.02471 0.2365:0.43:0.1193:0.2142 rs2272935;rs52791624;rs58306533;rs2272935 . . . L 75 . . P + 2 0 NIPAL3 24657980 0.998000 0.40836 1.000000 0.80357 0.997000 0.91878 0.530000 0.23036 0.366000 0.24427 0.563000 0.77884 CCT NOVEL NIPAL3-007 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000276996.1 1 5.754876 KEEP 0 1 34 31 1137 CC 0.999997 0.999997 0 + 9 60 323 0 0 21.038629 173 60 6604 258 ENST00000374399.4 0.049451 1 SRRM1 10250 __UNKNOWN__ __UNKNOWN__ 1 24999057 24999057 __UNKNOWN__ 3'UTR SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:24999057G>A ENST00000323848.9 + 0 3310 SRRM1_ENST00000447431.2_3'UTR|SRRM1_ENST00000374389.4_3'UTR NM_005839.3 NP_005830.2 Q8IYB3 SRRM1_HUMAN serine/arginine repetitive matrix 1 NA NA gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366) catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822) breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2) 36 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138) AATACTGTTGGCATTTTTATG 0.299 NA NA NA NA NA NA NA NA NA NA Ovarian(68;897 1494 3282 17478) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF048977 CCDS255.1 1p36 2010-04-22 ENSG00000133226 ENSG00000133226 10250 16638 protein-coding gene gene with protein product Ser/Arg-related nuclear matrix protein, plenty of prolines 101-like 605975 NA 9531537 Standard NM_005839 NM_005839 NA Approved SRM160, POP101, MGC39488 uc001bjm.3 Q8IYB3 OTTHUMG00000003320 ENST00000323848.9:c.*280G>A chr1.hg19:g.24999057G>A NA O60585|Q5VVN4 hg19 CCDS255.1 0.02 16.543994 TTGxCAT COVERED NOVEL SRRM1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000009292.2 4 7.59802 KEEP 2 5 150 78 2813 GG 1 1 0 + 40 60 1383 0 0 100.00608 381 60 14183 602 ENST00000323848.9 0.095012 1 CLIC4 25932 __UNKNOWN__ __UNKNOWN__ 1 25170576 25170576 __UNKNOWN__ 3'UTR SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:25170576G>A ENST00000374379.4 + 0 4107 NM_013943.2 NP_039234.1 Q9Y696 CLIC4_HUMAN chloride intracellular channel 4 NA NA angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cell differentiation (GO:0030154)|cellular response to calcium ion (GO:0071277)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|endothelial cell morphogenesis (GO:0001886)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|fertilization (GO:0009566)|keratinocyte differentiation (GO:0030216)|multicellular organism growth (GO:0035264)|negative regulation of cell migration (GO:0030336)|regulation of cytoskeleton organization (GO:0051493)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|vacuolar acidification (GO:0007035) actin cytoskeleton (GO:0015629)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|microvillus (GO:0005902)|midbody (GO:0030496)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886) chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247) large_intestine(3)|lung(2)|skin(1) 6 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18) TTTTATCATGGAAAAATTTCA 0.333 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF097330 CCDS256.1 1p 2012-09-26 ENSG00000169504 ENSG00000169504 25932 Ion channels / Chloride channels : Intracellular 13518 protein-coding gene gene with protein product 606536 NA 9139710, 10070163 Standard NM_013943 NM_013943 NA Approved DKFZP566G223, CLIC4L, P64H1, H1, huH1, p64H1 uc001bjo.2 Q9Y696 OTTHUMG00000003327 ENST00000374379.4:c.*3148G>A chr1.hg19:g.25170576G>A NA Q9UFW9|Q9UQJ6 hg19 CCDS256.1 0.02 1.82067 ATGxAAA COVERED NOVEL CLIC4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000009332.1 2 5.421346 KEEP 0 4 26 28 926 GG 0.999997 0.999997 0 + 15 60 210 0 0 8.858436 122 60 3739 224 ENST00000374379.4 0.109489 1 TMEM50A 23585 __UNKNOWN__ __UNKNOWN__ 1 25687901 25687901 __UNKNOWN__ 3'UTR SNP T T C rs1053438 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:25687901T>C ENST00000374358.4 + 0 1732 NM_014313.3 NP_055128.1 O95807 TM50A_HUMAN transmembrane protein 50A NA NA endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) endometrium(1)|kidney(1)|large_intestine(3)|lung(1) 6 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;3.47e-27)|Colorectal(126;1.1e-08)|COAD - Colon adenocarcinoma(152;7.48e-07)|STAD - Stomach adenocarcinoma(196;0.00035)|BRCA - Breast invasive adenocarcinoma(304;0.00047)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|GBM - Glioblastoma multiforme(114;0.00106)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.204) ACATCCACCATTGAAGGAAAG 0.483 NA t||| 2345 0.468251 0.0991 0.487 5008 , , NA 20879 0.7569 NA 0.4433 False NA ,,, NA NA NA 2504 0.682 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY071927 CCDS264.1 1p36.11 2008-02-05 ENSG00000183726 ENSG00000183726 23585 30590 protein-coding gene gene with protein product small membrane protein 1 605348 NA 10938938, 10845894 Standard NM_014313 NA Approved SMP1 uc001bke.3 O95807 OTTHUMG00000007651 ENST00000374358.4:c.*705T>C chr1.hg19:g.25687901T>C NA hg19 CCDS264.1 0.02 7.391887 CCAxTGA COVERED NOVEL TMEM50A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000020313.1 1 20.763439 KEEP 0 0 0 69 2218 TT 1 1 0 + 11 60 424 0 0 29.699271 168 60 6033 308 ENST00000374358.4 0.061453 1 AUNIP 79000 __UNKNOWN__ __UNKNOWN__ 1 26164734 26164734 __UNKNOWN__ Intron SNP A A G rs10902696 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:26164734A>G ENST00000374298.3 - 2 133 AUNIP_ENST00000538789.1_Intron NM_024037.1 NP_076942.1 Q9H7T9 AUNIP_HUMAN aurora kinase A and ninein interacting protein NA NA spindle organization (GO:0007051) centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922) NA ggtggctcacacctgtaatcc 0.468 NA a||| 4194 0.83746 0.7148 0.8646 5008 , , NA 15715 0.9782 NA 0.7744 False NA ,,, NA NA NA 2504 0.9039 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS266.1, CCDS72731.1 1p36.11 2012-08-07 2012-08-07 2012-08-07 ENSG00000127423 ENSG00000127423 79000 28363 protein-coding gene gene with protein product chromosome 1 open reading frame 135 C1orf135 NA 20596670 Standard NM_024037 NM_001287490 NA Approved MGC2603, AIBp uc001bkw.1 Q9H7T9 OTTHUMG00000007372 ENST00000374298.3:c.79-689T>C chr1.hg19:g.26164734A>G NA C9EI59|Q53F70 hg19 CCDS266.1 0.02 -0.052638 CACxCCT UNCOVERED NOVEL AUNIP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000019309.2 1 2.406529 KEEP 1 0 0 8 242 AA 0 0 0 - 4 60 140 0 0 14.249329 2 60 79 16 ENST00000374298.3 0.666667 0.036766 FAM110D 79927 __UNKNOWN__ __UNKNOWN__ 1 26488019 26488019 __UNKNOWN__ Silent SNP G G A rs3748857 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:26488019G>A ENST00000374268.3 + 2 424 c.237G>A c.(235-237)ccG>ccA p.P79P NM_024869.2 NP_079145.2 Q8TAY7 F110D_HUMAN family with sequence similarity 110, member D 79 NA NA GGCGGCTGCCGAGGCCTGATT 0.697 NA G||| 1413 0.282149 0.0076 0.389 5008 , , NA 12069 0.5794 NA 0.1133 False NA ,,, NA NA NA 2504 0.4448 NA NA NA NA 0 G 82,2872 1,80,1396 2 3 3 237 -3.1 1 1 dbSNP_107 3 504,6034 12,480,2777 no coding-synonymous GRRP1 NM_024869.2 13,560,4173 AA,AG,GG 7.7088,2.7759,6.1736 79/272 26488019 586,8906 1477 3269 4746 SO:0001819 synonymous_variant CCDS41285.1 1p36.11 2011-12-01 2011-12-01 2011-12-01 ENSG00000197245 ENSG00000197245 79927 25860 protein-coding gene gene with protein product glycine/arginine rich protein 1 GRRP1 NA 12477932 Standard NM_024869 NM_024869 NA Approved FLJ14050 uc001blk.3 Q8TAY7 OTTHUMG00000007537 ENST00000374268.3:c.237G>A chr1.hg19:g.26488019G>A NA A8K3V0|Q9H7Z4 hg19 CCDS41285.1 0.02 10.676865 GCCxAGG COVERED NOVEL FAM110D-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000019841.1 2 35.339497 KEEP 0 1 21 125 4129 GG 1 1 0 + 11 60 395 0 0 24.602585 270 60 9246 509 ENST00000374268.3 0.039146 1 ZNF593 51042 __UNKNOWN__ __UNKNOWN__ 1 26496651 26496651 __UNKNOWN__ Silent SNP T T C rs7087 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:26496651T>C ENST00000374266.5 + 1 290 c.177T>C c.(175-177)ggT>ggC p.G59G ZNF593_ENST00000270812.5_Silent_p.G59G|RP11-96L14.7_ENST00000407889.2_RNA NM_015871.4 NP_056955.2 O00488 ZN593_HUMAN zinc finger protein 593 59 NA negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351) nucleolus (GO:0005730)|nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714) large_intestine(4)|prostate(1) 5 Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649) CAGGGGGCGGTCTGCACCGCT 0.706 NA OREG0013262 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) C||| 2678 0.534744 0.6301 0.5504 5008 , , NA 13465 0.6429 NA 0.2992 False NA ,,, NA NA NA 2504 0.5256 NA NA NA NA 0 C 2355,1869 730,895,487 6 8 7 177 3.7 1 1 dbSNP_52 7 2256,6012 382,1492,2260 no coding-synonymous ZNF593 NM_015871.4 1112,2387,2747 CC,CT,TT 27.2859,44.2472,36.9116 59/135 26496651 4611,7881 2112 4134 6246 SO:0001819 synonymous_variant D45213 CCDS275.2 1p35.3 2012-10-05 ENSG00000142684 ENSG00000142684 51042 30943 protein-coding gene gene with protein product NA 9115366 Standard NM_015871 NM_015871 NA Approved ZT86 uc001bll.4 O00488 OTTHUMG00000007538 ENST00000374266.5:c.177T>C chr1.hg19:g.26496651T>C 787 B2R4S0|Q5T2H7 hg19 CCDS275.2 0.02 6.972415 CGGxCTG COVERED NOVEL ZNF593-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000019842.2 1 44.380828 KEEP 0 0 0 148 4620 TT 1 1 0 + 9 60 330 0 0 22.01418 161 60 5543 399 ENST00000374266.5 0.052941 1 CNKSR1 10256 __UNKNOWN__ __UNKNOWN__ 1 26510940 26510940 __UNKNOWN__ Missense_Mutation SNP C C A rs2297710 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:26510940C>A ENST00000361530.6 + 12 1194 c.1049C>A c.(1048-1050)cCa>cAa p.P350Q CNKSR1_ENST00000531191.1_Missense_Mutation_p.P92Q|CNKSR1_ENST00000374253.5_Missense_Mutation_p.P357Q Q969H4 CNKR1_HUMAN connector enhancer of kinase suppressor of Ras 1 357 Pro-rich. NA Ras protein signal transduction (GO:0007265)|Rho protein signal transduction (GO:0007266)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|plasma membrane (GO:0005886) protein binding, bridging (GO:0030674) breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 28 Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649) CCGGAACCCCCAGCCATACTC 0.647 NA C||| 170 0.0339457 0.0 0.0 5008 , , NA 14115 0.0903 NA 0.001 False NA ,,, NA NA NA 2504 0.0798 NA NA NA NSCLC(180;1396 2109 28270 30756 34275) NA 0 22 24 24 NA NA 1 NA 26510940 2201 4299 6500 SO:0001583 missense AF100153 CCDS276.1, CCDS72732.1 1p35.3 2013-01-10 ENSG00000142675 ENSG00000142675 10256 Sterile alpha motif (SAM) domain containing, Pleckstrin homology (PH) domain containing 19700 protein-coding gene gene with protein product 603272 NA 9814705 Standard NM_006314 NM_006314 NA Approved CNK1, KSR, CNK uc001blm.4 Q969H4 OTTHUMG00000007541 ENST00000361530.6:c.1049C>A chr1.hg19:g.26510940C>A ENSP00000354609:p.Pro350Gln NA B1AMW9|O95381 hg19 CCDS276.1 0.02 9.05908 CCCxAGC COVERED 56 0.02564102564102564 0 0.0 0 0.0 55 0.09615384615384616 1 0.0013192612137203166 C 11.75 1.731920 0.30684 . . ENSG00000142675 ENST00000361530;ENST00000374253;ENST00000531191 T;T;T 0.11930 2.73;2.73;2.73 4.92 2.92 0.33932 . 0.807701 0.11309 N 0.577300 T 0.00300 0.0009 L 0.27053 0.805 0.09310 N 1 D;D 0.55385 0.971;0.971 P;P 0.47470 0.548;0.548 T 0.29761 -1.0001 10 0.19590 T 0.45 -3.0504 7.8222 0.29294 0.1613:0.749:0.0:0.0896 rs2297710;rs2297710 357;350 Q969H4;Q53GM7 CNKR1_HUMAN;. Q 350;357;92 ENSP00000354609:P350Q;ENSP00000363371:P357Q;ENSP00000431817:P92Q ENSP00000354609:P350Q P + 2 0 CNKSR1 26383527 0.055000 0.20627 0.232000 0.24009 0.043000 0.13939 0.305000 0.19254 1.442000 0.47568 0.603000 0.83216 CCA NOVEL CNKSR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000019856.2 1 9.028978 KEEP 0 0 0 30 1051 CC 0.999997 0.999997 0 + 9 60 342 0 0 22.070859 217 60 8298 315 ENST00000361530.6 0.039823 1 UBXN11 91544 __UNKNOWN__ __UNKNOWN__ 1 26628174 26628174 __UNKNOWN__ Intron SNP G G A rs143177696 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:26628174G>A ENST00000374222.1 - 4 565 UBXN11_ENST00000436301.2_Intron|UBXN11_ENST00000374223.1_Intron|UBXN11_ENST00000374217.2_Intron|UBXN11_ENST00000535108.1_Intron|UBXN11_ENST00000314675.7_Intron|UBXN11_ENST00000357089.4_Intron|UBXN11_ENST00000374221.3_Intron Q5T124 UBX11_HUMAN UBX domain protein 11 NA NA cytoplasm (GO:0005737)|cytoskeleton (GO:0005856) endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3) 23 ACGAGGGCGGGGCACACTTAC 0.557 NA G||| 1 0.000199681 0.0 0.0 5008 , , NA 17619 0.0 NA 0.001 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 G ,, 0,4074 0,0,2037 43 49 47 ,, -2.6 0 1 dbSNP_134 47 1,8367 0,1,4183 no intron,intron,intron UBXN11 NM_001077262.1,NM_145345.2,NM_183008.2 ,, 0,1,6220 AA,AG,GG 0.012,0.0,0.0080 ,, ,, 26628174 1,12441 2037 4184 6221 SO:0001627 intron_variant AF521017 CCDS41286.1, CCDS41287.1, CCDS41288.1 1p36.11 2008-07-25 2008-07-25 2008-07-25 ENSG00000158062 ENSG00000158062 91544 UBX domain containing 30600 protein-coding gene gene with protein product socius 609151 UBX domain containing 5 UBXD5 NA 11940653 Standard NM_145345 NM_183008 NA Approved SOC, SOCI uc001blw.3 Q5T124 OTTHUMG00000003382 ENST00000374222.1:c.100+10C>T chr1.hg19:g.26628174G>A NA D3DPK6|Q5T117|Q5T120|Q5T125|Q5T126|Q5T129|Q5T131|Q5T133|Q63HM6|Q71RB3|Q8IY27|Q8N1L6|Q8N9M4|Q8NA18|Q8NFE3|Q8NFE4|Q8NFE6 hg19 CCDS41288.1 0.02 1.825042 CGGxGCA COVERED NOVEL UBXN11-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000009500.1 0 7.524378 KEEP 0 0 0 25 884 GG 0.999931 0.999657 0 - 4 60 139 0 0 8.767019 83 60 3001 149 ENST00000374222.1 0.045977 0.999726 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 26648328 26648328 __UNKNOWN__ IGR SNP G G A rs12568163 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:26648328G>A NA NA CD52 (1314 upstream) : AIM1L (21 downstream) NA NA NA ACCCCACCCCGAAATATCAAG 0.488 NA OREG0013266 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) G||| 1385 0.276558 0.118 0.3069 5008 , , NA 19464 0.5367 NA 0.0736 False NA ,,, NA NA NA 2504 0.41 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.26648328G>A 788 hg19 0.02 15.337263 CCCxAAA COVERED NOVEL 0 2 32.804249 KEEP 0 0 0 109 3691 GG 1 1 0 12 60 448 0 0 27.490519 362 60 12689 624 0.032086 1 LIN28A 79727 __UNKNOWN__ __UNKNOWN__ 1 26754318 26754318 __UNKNOWN__ 3'UTR SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:26754318C>T ENST00000326279.6 + 0 2113 LIN28A_ENST00000254231.4_3'UTR NM_024674.4 NP_078950.1 Q9H9Z2 LN28A_HUMAN lin-28 homolog A (C. elegans) NA NA germ cell development (GO:0007281)|miRNA catabolic process (GO:0010587)|negative regulation of glial cell differentiation (GO:0045686)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of translation (GO:0045727)|pre-miRNA processing (GO:0031054)|regulation of gene silencing by miRNA (GO:0060964)|regulation of transcription, DNA-templated (GO:0006355)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827) cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleolus (GO:0005730)|nucleus (GO:0005634) DNA binding (GO:0003677)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270) central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2) 8 TCCAGGGAGACACACAAGCGA 0.468 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF521099 CCDS280.1 1p35.3 2013-01-09 2010-04-06 2010-04-06 ENSG00000131914 ENSG00000131914 79727 Zinc fingers, CCHC domain containing 15986 protein-coding gene gene with protein product 611043 lin-28 homolog (C. elegans) LIN28 NA 12798299 Standard NM_024674 XM_006710899 NA Approved LIN-28, FLJ12457, ZCCHC1, CSDD1 uc001bmj.3 Q9H9Z2 OTTHUMG00000003550 ENST00000326279.6:c.*1369C>T chr1.hg19:g.26754318C>T NA hg19 CCDS280.1 0.02 5.898612 AGAxACA COVERED NOVEL LIN28A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000009891.2 3 9.63161 KEEP 0 0 0 32 1142 CC 0.999997 0.999997 0 + 6 60 221 0 0 13.401841 184 60 6779 260 ENST00000326279.6 0.031579 1 DHDDS 79947 __UNKNOWN__ __UNKNOWN__ 1 26786627 26786627 __UNKNOWN__ Missense_Mutation SNP G G A rs3816539 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:26786627G>A ENST00000360009.2 + 8 834 c.757G>A c.(757-759)Gtg>Atg p.V253M DHDDS_ENST00000236342.7_Missense_Mutation_p.V253M|DHDDS_ENST00000525682.2_Missense_Mutation_p.V219M|DHDDS_ENST00000526219.1_Missense_Mutation_p.V214M NM_024887.3|NM_205861.2 NP_079163.2|NP_995583.1 Q86SQ9 DHDDS_HUMAN dehydrodolichyl diphosphate synthase 253 NA V -> M (in dbSNP:rs3816539). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:20736409}. cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279) endoplasmic reticulum membrane (GO:0005789) transferase activity, transferring alkyl or aryl (other than methyl) groups (GO:0016765) p.V253M(1) breast(5)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1) 15 all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239) GAACCATAGCGTGCTTCAGGT 0.493 NA G||| 2280 0.455272 0.4811 0.3069 5008 , , NA 21309 0.7093 NA 0.2346 False NA ,,, NA NA NA 2504 0.4908 NA NA NA NA 1 Substitution - Missense(1) stomach(1) G MET/VAL,MET/VAL 1958,2448 553.9+/-378.9 436,1086,681 105 98 101 757,757 -1.4 0.6 1 dbSNP_107 101 1781,6819 323.4+/-316.0 183,1415,2702 yes missense,missense DHDDS NM_024887.3,NM_205861.2 21,21 619,2501,3383 AA,AG,GG 20.7093,44.4394,28.7483 benign,benign 253/335,253/334 26786627 3739,9267 2203 4300 6503 SO:0001583 missense AK023164 CCDS281.1, CCDS282.1, CCDS57984.1, CCDS57983.1 1p35.3 2014-01-28 ENSG00000117682 ENSG00000117682 79947 20603 protein-coding gene gene with protein product 608172 NA 12591616 Standard NM_024887 NM_024887 NA Approved HDS, FLJ13102, DS, RP59 uc001bmk.3 Q86SQ9 OTTHUMG00000003554 ENST00000360009.2:c.757G>A chr1.hg19:g.26786627G>A ENSP00000353104:p.Val253Met NA B7Z4B9|B7ZB20|D3DPK7|D3DPK8|D3DPK9|E9KL43|Q5T0A4|Q8NE90|Q9BTG5|Q9BTK3|Q9H905 hg19 CCDS281.1 0.02 6.371804 AGCxTGC COVERED 916|916 0.4194139194139194|0.4194139194139194 212|212 0.43089430894308944|0.43089430894308944 102|102 0.281767955801105|0.281767955801105 421|421 0.736013986013986|0.736013986013986 181|181 0.23878627968337732|0.23878627968337732 G|G 11.04|11.04 1.520802|1.520802 0.27211|0.27211 0.444394|0.444394 0.207093|0.207093 ENSG00000117682|ENSG00000117682 ENST00000416052|ENST00000374192;ENST00000525682;ENST00000236342;ENST00000526219;ENST00000360009;ENST00000430232 .|T;T;T;T;T .|0.44083 .|0.93;0.93;0.93;0.93;0.94 5.27|5.27 -1.42|-1.42 0.08913|0.08913 .|. .|0.633953 .|0.18368 .|N .|0.143355 T|T 0.00012|0.00012 0.0000|0.0000 L|L 0.36672|0.36672 1.1|1.1 0.80722|0.80722 P|P 0.0|0.0 .|B;B;B;B .|0.09022 .|0.001;0.002;0.001;0.002 .|B;B;B;B .|0.11329 .|0.006;0.001;0.006;0.005 T|T 0.37526|0.37526 -0.9702|-0.9702 4|9 .|0.54805 .|T .|0.06 -12.7868|-12.7868 12.0925|12.0925 0.53736|0.53736 0.3764:0.0:0.6236:0.0|0.3764:0.0:0.6236:0.0 rs3816539;rs17849789;rs52803466;rs58359749;rs3816539|rs3816539;rs17849789;rs52803466;rs58359749;rs3816539 .|219;214;253;253 .|B7Z4B9;Q86SQ9-3;Q86SQ9;Q86SQ9-2 .|.;.;DHDDS_HUMAN;. H|M 129|149;219;253;214;253;214 .|ENSP00000434984:V219M;ENSP00000236342:V253M;ENSP00000434219:V214M;ENSP00000353104:V253M;ENSP00000397584:V214M .|ENSP00000236342:V253M R|V +|+ 2|1 0|0 DHDDS|DHDDS 26659214|26659214 0.941000|0.941000 0.31946|0.31946 0.585000|0.585000 0.28666|0.28666 0.801000|0.801000 0.45260|0.45260 0.741000|0.741000 0.26202|0.26202 -0.176000|-0.176000 0.10707|0.10707 0.561000|0.561000 0.74099|0.74099 CGT|GTG NOVEL DHDDS-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000009895.3 1 10.267045 KEEP 0 1 34 46 1558 GG 1 1 0 + 8 60 292 0 0 18.565942 185 60 6501 288 ENST00000360009.2 0.041451 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 26846195 26846195 __UNKNOWN__ IGR SNP C C T rs4970514 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:26846195C>T NA NA HMGN2 (43732 upstream) : RPS6KA1 (10062 downstream) NA NA NA AACATGGCTCCCTGCGCTGAA 0.463 NA C||| 2315 0.46226 0.4826 0.3487 5008 , , NA 24770 0.7123 NA 0.2356 False NA ,,, NA NA NA 2504 0.4908 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.26846195C>T NA hg19 0.02 9.120915 CTCxCTG COVERED NOVEL 0 2 9.029266 KEEP 0 0 0 30 1047 CC 0.999997 0.999997 0 11 60 405 0 0 26.788715 209 60 7502 274 0.05 1 RPS6KA1 6195 __UNKNOWN__ __UNKNOWN__ 1 26869610 26869610 __UNKNOWN__ Intron SNP G G A rs921893 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:26869610G>A ENST00000374168.2 + 3 262 RPS6KA1_ENST00000526792.1_Intron|RPS6KA1_ENST00000374162.2_Intron|RPS6KA1_ENST00000530003.1_5'UTR|RPS6KA1_ENST00000374166.4_Intron NM_002953.3 NP_002944.2 Q15418 KS6A1_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 1 NA NA axon guidance (GO:0007411)|cell cycle (GO:0007049)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819) ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712) lung(1) 1 all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234) AGCAGAAGTAGGAAGAGTAAC 0.597 NA A||| 3631 0.72504 0.7231 0.634 5008 , , NA 18392 0.7887 NA 0.7505 False NA ,,, NA NA NA 2504 0.7004 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC014966 CCDS284.1, CCDS30649.1 1p 2011-04-05 2002-08-29 ENSG00000117676 ENSG00000117676 6195 10430 protein-coding gene gene with protein product 601684 ribosomal protein S6 kinase, 90kD, polypeptide 1 NA 8141249 Standard NM_002953 NM_001006665 NA Approved RSK, RSK1, HU-1 uc001bms.1 Q15418 OTTHUMG00000004003 ENST00000374168.2:c.109-3748G>A chr1.hg19:g.26869610G>A NA A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2 hg19 CCDS284.1 0.02 24.12895 GTAxGAA COVERED NOVEL RPS6KA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000011431.1 5 7.43745 KEEP 0 4 129 70 2494 GG 1 1 0 + 29 60 1053 0 0 68.779976 568 60 21515 838 ENST00000374168.2 0.048576 1 RPS6KA1 6195 __UNKNOWN__ __UNKNOWN__ 1 26870730 26870730 __UNKNOWN__ Intron SNP C C G rs1466286 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:26870730C>G ENST00000374168.2 + 3 262 RPS6KA1_ENST00000526792.1_Intron|RPS6KA1_ENST00000374162.2_Intron|RPS6KA1_ENST00000530003.1_Intron|RPS6KA1_ENST00000374166.4_Intron NM_002953.3 NP_002944.2 Q15418 KS6A1_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 1 NA NA axon guidance (GO:0007411)|cell cycle (GO:0007049)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819) ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712) lung(1) 1 all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234) CTGCCTACCTCTGTCTGTGGT 0.532 NA G||| 2544 0.507987 0.4962 0.3646 5008 , , NA 20459 0.7698 NA 0.2853 False NA ,,, NA NA NA 2504 0.5849 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC014966 CCDS284.1, CCDS30649.1 1p 2011-04-05 2002-08-29 ENSG00000117676 ENSG00000117676 6195 10430 protein-coding gene gene with protein product 601684 ribosomal protein S6 kinase, 90kD, polypeptide 1 NA 8141249 Standard NM_002953 NM_001006665 NA Approved RSK, RSK1, HU-1 uc001bms.1 Q15418 OTTHUMG00000004003 ENST00000374168.2:c.109-2628C>G chr1.hg19:g.26870730C>G NA A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2 hg19 CCDS284.1 0.02 8.739046 CCTxTGT COVERED NOVEL RPS6KA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000011431.1 3 13.243357 KEEP 0 0 0 44 1589 CC 1 1 0 + 7 60 264 0 0 16.301092 211 60 8062 332 ENST00000374168.2 0.03211 1 RPS6KA1 6195 __UNKNOWN__ __UNKNOWN__ 1 26872554 26872554 __UNKNOWN__ Intron SNP A A G rs12723936 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:26872554A>G ENST00000374168.2 + 3 262 RPS6KA1_ENST00000526792.1_Intron|RPS6KA1_ENST00000374162.2_Intron|RPS6KA1_ENST00000531382.1_Intron|RPS6KA1_ENST00000530003.1_Intron|RPS6KA1_ENST00000374166.4_Intron NM_002953.3 NP_002944.2 Q15418 KS6A1_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 1 NA NA axon guidance (GO:0007411)|cell cycle (GO:0007049)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819) ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712) lung(1) 1 all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234) TCTGGTCCTGACCTGGCTGTG 0.657 NA G||| 2532 0.505591 0.4917 0.366 5008 , , NA 18614 0.7659 NA 0.2833 False NA ,,, NA NA NA 2504 0.5838 NA NA NA NA 0 G , 1965,2441 440,1085,678 19 19 19 , 0.8 0 1 dbSNP_121 19 2213,6385 289,1635,2375 no intron,intron RPS6KA1 NM_001006665.1,NM_002953.3 , 729,2720,3053 GG,GA,AA 25.7385,44.5983,32.1286 , , 26872554 4178,8826 2203 4299 6502 SO:0001627 intron_variant BC014966 CCDS284.1, CCDS30649.1 1p 2011-04-05 2002-08-29 ENSG00000117676 ENSG00000117676 6195 10430 protein-coding gene gene with protein product 601684 ribosomal protein S6 kinase, 90kD, polypeptide 1 NA 8141249 Standard NM_002953 NM_001006665 NA Approved RSK, RSK1, HU-1 uc001bms.1 Q15418 OTTHUMG00000004003 ENST00000374168.2:c.109-804A>G chr1.hg19:g.26872554A>G NA A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2 hg19 CCDS284.1 0.02 3.698265 CTGxCCT COVERED NOVEL RPS6KA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000011431.1 1 6.619446 KEEP 0 0 0 22 670 AA 0.999879 0.999878 0 + 5 60 170 0 0 10.311289 118 60 4107 179 ENST00000374168.2 0.04065 0.999999 RPS6KA1 6195 __UNKNOWN__ __UNKNOWN__ 1 26879376 26879376 __UNKNOWN__ Intron SNP T T C rs7543005 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:26879376T>C ENST00000374168.2 + 7 622 RPS6KA1_ENST00000526792.1_Intron|RPS6KA1_ENST00000374162.2_Intron|RPS6KA1_ENST00000531382.1_Intron|RPS6KA1_ENST00000530003.1_Intron|RPS6KA1_ENST00000374166.4_Intron NM_002953.3 NP_002944.2 Q15418 KS6A1_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 1 NA NA axon guidance (GO:0007411)|cell cycle (GO:0007049)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819) ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712) lung(1) 1 all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234) ccccctctattcccatctata 0.348 NA C||| 2551 0.509385 0.5076 0.366 5008 , , NA 16929 0.7639 NA 0.2833 False NA ,,, NA NA NA 2504 0.5838 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC014966 CCDS284.1, CCDS30649.1 1p 2011-04-05 2002-08-29 ENSG00000117676 ENSG00000117676 6195 10430 protein-coding gene gene with protein product 601684 ribosomal protein S6 kinase, 90kD, polypeptide 1 NA 8141249 Standard NM_002953 NM_001006665 NA Approved RSK, RSK1, HU-1 uc001bms.1 Q15418 OTTHUMG00000004003 ENST00000374168.2:c.469-506T>C chr1.hg19:g.26879376T>C NA A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2 hg19 CCDS284.1 0.02 15.769736 TATxCCC COVERED NOVEL RPS6KA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000011431.1 3 14.743541 KEEP 0 0 0 49 1539 TT 1 1 0 + 10 60 382 0 0 23.027518 359 60 13086 512 ENST00000374168.2 0.0271 1 RPS6KA1 6195 __UNKNOWN__ __UNKNOWN__ 1 26881806 26881806 __UNKNOWN__ Intron SNP C C A rs897641 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:26881806C>A ENST00000374168.2 + 10 981 RPS6KA1_ENST00000526792.1_Intron|RPS6KA1_ENST00000374162.2_Intron|RPS6KA1_ENST00000531382.1_Intron|RPS6KA1_ENST00000488985.1_Intron|RPS6KA1_ENST00000530003.1_Intron|RPS6KA1_ENST00000374166.4_Intron NM_002953.3 NP_002944.2 Q15418 KS6A1_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 1 NA NA axon guidance (GO:0007411)|cell cycle (GO:0007049)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819) ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712) lung(1) 1 all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234) CCTGCCTCAGCTACCCTCTCT 0.537 NA A||| 2553 0.509784 0.5068 0.3631 5008 , , NA 16412 0.754 NA 0.2883 False NA ,,, NA NA NA 2504 0.5941 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC014966 CCDS284.1, CCDS30649.1 1p 2011-04-05 2002-08-29 ENSG00000117676 ENSG00000117676 6195 10430 protein-coding gene gene with protein product 601684 ribosomal protein S6 kinase, 90kD, polypeptide 1 NA 8141249 Standard NM_002953 NM_001006665 NA Approved RSK, RSK1, HU-1 uc001bms.1 Q15418 OTTHUMG00000004003 ENST00000374168.2:c.827+94C>A chr1.hg19:g.26881806C>A NA A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2 hg19 CCDS284.1 0.02 3.686881 CAGxTAC COVERED NOVEL RPS6KA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000011431.1 1 7.824826 KEEP 0 0 0 26 927 CC 0.999957 0.999957 0 + 5 60 179 0 0 10.815147 142 60 5327 190 ENST00000374168.2 0.034014 1 RPS6KA1 6195 __UNKNOWN__ __UNKNOWN__ 1 26887592 26887592 __UNKNOWN__ Silent SNP T T C rs1064196 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:26887592T>C ENST00000374168.2 + 16 1552 c.1398T>C c.(1396-1398)taT>taC p.Y466Y RPS6KA1_ENST00000526792.1_Silent_p.Y374Y|RPS6KA1_ENST00000374162.2_Silent_p.Y374Y|RPS6KA1_ENST00000531382.1_Silent_p.Y475Y|RPS6KA1_ENST00000530003.1_Silent_p.Y450Y|RPS6KA1_ENST00000374166.4_Silent_p.Y455Y NM_002953.3 NP_002944.2 Q15418 KS6A1_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 1 466 Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}. NA axon guidance (GO:0007411)|cell cycle (GO:0007049)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819) ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712) lung(1) 1 all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234) TTCTGCGGTATGGCCAGCACC 0.517 NA C||| 2556 0.510383 0.5068 0.3646 5008 , , NA 20757 0.756 NA 0.2903 False NA ,,, NA NA NA 2504 0.592 NA NA NA NA 0 C , 2037,2369 610.8+/-391.6 467,1103,633 76 77 77 1425,1398 -6.2 0.7 1 dbSNP_86 77 2263,6337 707.5+/-405.6 299,1665,2336 no coding-synonymous,coding-synonymous RPS6KA1 NM_001006665.1,NM_002953.3 , 766,2768,2969 CC,CT,TT 26.314,46.2324,33.0617 , 475/745,466/736 26887592 4300,8706 2203 4300 6503 SO:0001819 synonymous_variant BC014966 CCDS284.1, CCDS30649.1 1p 2011-04-05 2002-08-29 ENSG00000117676 ENSG00000117676 6195 10430 protein-coding gene gene with protein product 601684 ribosomal protein S6 kinase, 90kD, polypeptide 1 NA 8141249 Standard NM_002953 NM_001006665 NA Approved RSK, RSK1, HU-1 uc001bms.1 Q15418 OTTHUMG00000004003 ENST00000374168.2:c.1398T>C chr1.hg19:g.26887592T>C NA A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2 hg19 CCDS284.1 0.02 1.998017 GTAxGGC COVERED NOVEL RPS6KA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000011431.1 0 3.611123 KEEP 0 0 0 12 383 TT 0.993634 0.99347 0 + 5 60 186 0 0 12.626696 84 60 3081 125 ENST00000374168.2 0.05618 0.999835 RPS6KA1 6195 __UNKNOWN__ __UNKNOWN__ 1 26898142 26898142 __UNKNOWN__ Intron SNP A A G rs188158 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:26898142A>G ENST00000374168.2 + 18 1906 RPS6KA1_ENST00000526792.1_Intron|RPS6KA1_ENST00000374162.2_Intron|RPS6KA1_ENST00000531382.1_Intron|RPS6KA1_ENST00000530003.1_Intron|RPS6KA1_ENST00000374166.4_Intron NM_002953.3 NP_002944.2 Q15418 KS6A1_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 1 NA NA axon guidance (GO:0007411)|cell cycle (GO:0007049)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819) ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712) lung(1) 1 all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234) GTGAGGGGGAATTGGAGGCCT 0.612 NA A||| 2697 0.538538 0.562 0.3689 5008 , , NA 16013 0.755 NA 0.2932 False NA ,,, NA NA NA 2504 0.6564 NA NA NA NA 0 A , 2246,2160 561.9+/-380.8 592,1062,549 28 26 27 , -6.7 0 1 dbSNP_79 27 2285,6313 358.0+/-331.0 305,1675,2319 no intron,intron RPS6KA1 NM_001006665.1,NM_002953.3 , 897,2737,2868 GG,GA,AA 26.5759,49.0241,34.8431 , , 26898142 4531,8473 2203 4299 6502 SO:0001627 intron_variant BC014966 CCDS284.1, CCDS30649.1 1p 2011-04-05 2002-08-29 ENSG00000117676 ENSG00000117676 6195 10430 protein-coding gene gene with protein product 601684 ribosomal protein S6 kinase, 90kD, polypeptide 1 NA 8141249 Standard NM_002953 NM_001006665 NA Approved RSK, RSK1, HU-1 uc001bms.1 Q15418 OTTHUMG00000004003 ENST00000374168.2:c.1752+41A>G chr1.hg19:g.26898142A>G NA A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2 hg19 CCDS284.1 0.02 4.637816 GGAxTTG COVERED NOVEL RPS6KA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000011431.1 2 2.641365 KEEP 0 1 35 21 616 AA 0.999879 0.999879 0 + 5 60 192 0 0 12.205853 136 60 4920 180 ENST00000374168.2 0.035461 1 RPS6KA1 6195 __UNKNOWN__ __UNKNOWN__ 1 26899687 26899687 __UNKNOWN__ Intron SNP C C A rs282178 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:26899687C>A ENST00000374168.2 + 21 2101 RPS6KA1_ENST00000526792.1_Intron|RPS6KA1_ENST00000374162.2_Intron|RPS6KA1_ENST00000531382.1_Intron|RPS6KA1_ENST00000530003.1_Intron|RPS6KA1_ENST00000374166.4_Intron NM_002953.3 NP_002944.2 Q15418 KS6A1_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 1 NA NA axon guidance (GO:0007411)|cell cycle (GO:0007049)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819) ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712) lung(1) 1 all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234) CAGCCCTCCCCCAACCCCCTT 0.642 NA A||| 1648 0.329073 0.2965 0.4294 5008 , , NA 18564 0.4623 NA 0.2286 False NA ,,, NA NA NA 2504 0.2679 NA NA NA NA 0 A , 1275,3131 700.6+/-406.6 181,913,1109 63 62 63 , -8.8 0 1 dbSNP_79 63 1970,6630 722.7+/-406.4 239,1492,2569 no intron,intron RPS6KA1 NM_001006665.1,NM_002953.3 , 420,2405,3678 AA,AC,CC 22.907,28.9378,24.95 , , 26899687 3245,9761 2203 4300 6503 SO:0001627 intron_variant BC014966 CCDS284.1, CCDS30649.1 1p 2011-04-05 2002-08-29 ENSG00000117676 ENSG00000117676 6195 10430 protein-coding gene gene with protein product 601684 ribosomal protein S6 kinase, 90kD, polypeptide 1 NA 8141249 Standard NM_002953 NM_001006665 NA Approved RSK, RSK1, HU-1 uc001bms.1 Q15418 OTTHUMG00000004003 ENST00000374168.2:c.1948-28C>A chr1.hg19:g.26899687C>A NA A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2 hg19 CCDS284.1 0.02 4.305968 CCCxCAA COVERED NOVEL RPS6KA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000011431.1 0 2.742158 KEEP 0 1 28 19 645 CC 0.999863 0.999862 0 + 7 60 257 0 0 17.40732 115 60 4149 154 ENST00000374168.2 0.057377 0.999999 RPS6KA1 6195 __UNKNOWN__ __UNKNOWN__ 1 26900735 26900735 __UNKNOWN__ 3'UTR SNP C C G rs282179 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:26900735C>G ENST00000374168.2 + 0 2405 RPS6KA1_ENST00000526792.1_3'UTR|RPS6KA1_ENST00000374162.2_3'UTR|RPS6KA1_ENST00000531382.1_3'UTR|RPS6KA1_ENST00000530003.1_3'UTR|RPS6KA1_ENST00000374166.4_3'UTR NM_002953.3 NP_002944.2 Q15418 KS6A1_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 1 NA NA axon guidance (GO:0007411)|cell cycle (GO:0007049)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819) ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712) lung(1) 1 all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234) TAGCTTGACACAGTCAGCATG 0.652 NA G||| 3936 0.785942 0.7557 0.6974 5008 , , NA 16646 0.8492 NA 0.7783 False NA ,,, NA NA NA 2504 0.8323 NA NA NA NA 0 G , 3311,1095 393.3+/-328.8 1243,825,135 54 49 51 , 3.9 0 1 dbSNP_79 51 6537,2063 358.4+/-331.1 2488,1561,251 no utr-3,utr-3 RPS6KA1 NM_001006665.1,NM_002953.3 , 3731,2386,386 GG,GC,CC 23.9884,24.8525,24.2811 , , 26900735 9848,3158 2203 4300 6503 SO:0001624 3_prime_UTR_variant BC014966 CCDS284.1, CCDS30649.1 1p 2011-04-05 2002-08-29 ENSG00000117676 ENSG00000117676 6195 10430 protein-coding gene gene with protein product 601684 ribosomal protein S6 kinase, 90kD, polypeptide 1 NA 8141249 Standard NM_002953 NM_001006665 NA Approved RSK, RSK1, HU-1 uc001bms.1 Q15418 OTTHUMG00000004003 ENST00000374168.2:c.*43C>G chr1.hg19:g.26900735C>G NA A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2 hg19 CCDS284.1 0.02 9.135937 ACAxAGT COVERED NOVEL RPS6KA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000011431.1 0 5.389988 KEEP 0 2 72 43 1518 CC 1 1 0 + 11 60 412 0 0 27.042753 230 60 8675 324 ENST00000374168.2 0.045643 1 RPS6KA1 6195 __UNKNOWN__ __UNKNOWN__ 1 26901090 26901090 __UNKNOWN__ 3'UTR SNP C C T rs11113 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:26901090C>T ENST00000374168.2 + 0 2760 RPS6KA1_ENST00000530003.1_3'UTR|RPS6KA1_ENST00000374166.4_3'UTR NM_002953.3 NP_002944.2 Q15418 KS6A1_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 1 NA NA axon guidance (GO:0007411)|cell cycle (GO:0007049)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819) ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712) lung(1) 1 all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234) GGGACCCCCACGATTGGCCAC 0.572 NA C||| 3264 0.651757 0.6778 0.5778 5008 , , NA 16070 0.7133 NA 0.5805 False NA ,,, NA NA NA 2504 0.6789 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC014966 CCDS284.1, CCDS30649.1 1p 2011-04-05 2002-08-29 ENSG00000117676 ENSG00000117676 6195 10430 protein-coding gene gene with protein product 601684 ribosomal protein S6 kinase, 90kD, polypeptide 1 NA 8141249 Standard NM_002953 NM_001006665 NA Approved RSK, RSK1, HU-1 uc001bms.1 Q15418 OTTHUMG00000004003 ENST00000374168.2:c.*398C>T chr1.hg19:g.26901090C>T NA A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2 hg19 CCDS284.1 0.02 4.349313 CCAxGAT COVERED NOVEL RPS6KA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000011431.1 0 3.008432 KEEP 0 0 0 10 302 CC 0.992708 0.992705 0 + 7 60 261 0 0 17.934386 110 60 3614 135 ENST00000374168.2 0.059829 0.999998 AHDC1 27245 __UNKNOWN__ __UNKNOWN__ 1 27877314 27877314 __UNKNOWN__ Missense_Mutation SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:27877314G>A ENST00000247087.5 - 5 1909 c.1313C>T c.(1312-1314)cCt>cTt p.P438L AHDC1_ENST00000374011.2_Missense_Mutation_p.P438L Q5TGY3 AHDC1_HUMAN AT hook, DNA binding motif, containing 1 438 Pro-rich. NA DNA binding (GO:0003677) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291) TGGCAGGGCAGGGGGTGGAGG 0.711 NA NA NA NA NA NA NA NA NA NA NA 0 4 5 5 NA NA 1 NA 27877314 2041 4023 6064 SO:0001583 missense AK125431 CCDS30652.1 1p36.13 2008-02-05 ENSG00000126705 ENSG00000126705 27245 25230 protein-coding gene gene with protein product 615790 NA 8619474, 9110174 Standard XM_005245848 NA Approved DJ159A19.3, RP1-159A19.1 uc009vsy.3 Q5TGY3 OTTHUMG00000003398 ENST00000247087.5:c.1313C>T chr1.hg19:g.27877314G>A ENSP00000247087:p.Pro438Leu NA Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5 hg19 CCDS30652.1 0.02 10.48424 GCAxGGG COVERED . . . . . . . . . . G 14.29 2.490863 0.44249 . . ENSG00000126705 ENST00000247087;ENST00000374011 T;T 0.45276 0.9;0.9 5.85 3.65 0.41850 . 0.000000 0.44285 U 0.000476 T 0.22513 0.0543 N 0.08118 0 0.19300 N 0.999974 B 0.25272 0.122 B 0.21708 0.036 T 0.21724 -1.0237 10 0.87932 D 0 -0.2357 9.4962 0.38989 0.085:0.0:0.7684:0.1466 . 438 Q5TGY3 AHDC1_HUMAN L 438 ENSP00000247087:P438L;ENSP00000363123:P438L ENSP00000247087:P438L P - 2 0 AHDC1 27749901 0.953000 0.32496 0.981000 0.43875 0.800000 0.45204 2.495000 0.45337 1.470000 0.48102 0.643000 0.83706 CCT NOVEL AHDC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000009523.3 1 30.095363 KEEP 0 0 0 100 3464 GG 1 1 0 - 10 60 347 1 1 20.752197 270 60 10007 445 ENST00000247087.5 0.035714 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 28421781 28421781 __UNKNOWN__ IGR SNP T T C rs2476548 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:28421781T>C NA NA EYA3 (6574 upstream) : RNU6-176P (47466 downstream) NA NA NA ATCAGATATATACACACCCAC 0.308 NA t||| 747 0.149161 0.0113 0.1758 5008 , , NA 17036 0.2163 NA 0.2048 False NA ,,, NA NA NA 2504 0.1902 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.28421781T>C NA hg19 0.02 14.098378 ATAxACA COVERED NOVEL 0 5 13.238557 KEEP 137 0 0 44 1351 TT 0.999869 0.999869 0 10 60 359 0 0 21.675355 301 60 10656 559 0.032154 1 ATPIF1 93974 __UNKNOWN__ __UNKNOWN__ 1 28563391 28563391 __UNKNOWN__ Intron SNP C C T rs117855698 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:28563391C>T ENST00000468425.2 + 2 221 ATPIF1_ENST00000465645.1_3'UTR|ATPIF1_ENST00000335514.5_Intron|ATPIF1_ENST00000497986.1_Intron Q9UII2 ATIF1_HUMAN ATPase inhibitory factor 1 NA NA angiogenesis (GO:0001525)|erythrocyte differentiation (GO:0030218)|generation of precursor metabolites and energy (GO:0006091)|heme biosynthetic process (GO:0006783)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of hydrolase activity (GO:0051346)|negative regulation of nucleotide metabolic process (GO:0045980)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|reactive oxygen species metabolic process (GO:0072593) cell surface (GO:0009986)|mitochondrion (GO:0005739) angiostatin binding (GO:0043532)|ATPase binding (GO:0051117)|ATPase inhibitor activity (GO:0042030)|calmodulin binding (GO:0005516)|enzyme inhibitor activity (GO:0004857)|protein homodimerization activity (GO:0042803) lung(4) 4 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|BRCA - Breast invasive adenocarcinoma(304;0.00574)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0649) TCTCCTTCCTCGCCAGCACGC 0.587 NA C||| 74 0.0147764 0.0 0.0 5008 , , NA 18957 0.0685 NA 0.0 False NA ,,, NA NA NA 2504 0.0051 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL050386 CCDS319.1, CCDS320.1, CCDS44096.1 1p35.3 2011-07-04 ENSG00000130770 ENSG00000130770 93974 Mitochondrial respiratory chain complex / Complex V 871 protein-coding gene gene with protein product ATPase inhibitor protein, ATP synthase inhibitor protein 614981 NA 10664857, 19559621 Standard NM_016311 NM_016311 NA Approved ATPI, IP, ATPIP, MGC1167, MGC8898 uc001bpq.3 Q9UII2 OTTHUMG00000003533 ENST00000468425.2:c.179+428C>T chr1.hg19:g.28563391C>T NA Q5JXL8|Q6IAQ7|Q9BSL9 hg19 0.02 10.027018 CCTxGCC COVERED NOVEL ATPIF1-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000009844.2 3 40.326942 KEEP 0 0 0 134 4519 CC 1 1 0 + 14 60 491 0 0 31.270253 284 60 9841 542 ENST00000468425.2 0.04698 1 ATPIF1 93974 __UNKNOWN__ __UNKNOWN__ 1 28563650 28563650 __UNKNOWN__ Intron SNP G G A rs3767303 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:28563650G>A ENST00000468425.2 + 2 221 ATPIF1_ENST00000465645.1_3'UTR|ATPIF1_ENST00000335514.5_Intron|ATPIF1_ENST00000497986.1_Intron Q9UII2 ATIF1_HUMAN ATPase inhibitory factor 1 NA NA angiogenesis (GO:0001525)|erythrocyte differentiation (GO:0030218)|generation of precursor metabolites and energy (GO:0006091)|heme biosynthetic process (GO:0006783)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of hydrolase activity (GO:0051346)|negative regulation of nucleotide metabolic process (GO:0045980)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|reactive oxygen species metabolic process (GO:0072593) cell surface (GO:0009986)|mitochondrion (GO:0005739) angiostatin binding (GO:0043532)|ATPase binding (GO:0051117)|ATPase inhibitor activity (GO:0042030)|calmodulin binding (GO:0005516)|enzyme inhibitor activity (GO:0004857)|protein homodimerization activity (GO:0042803) lung(4) 4 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|BRCA - Breast invasive adenocarcinoma(304;0.00574)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0649) GTCCACTCTGGAGAGCAGTGA 0.473 NA G||| 662 0.132188 0.0 0.0014 5008 , , NA 21379 0.3859 NA 0.0099 False NA ,,, NA NA NA 2504 0.2679 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL050386 CCDS319.1, CCDS320.1, CCDS44096.1 1p35.3 2011-07-04 ENSG00000130770 ENSG00000130770 93974 Mitochondrial respiratory chain complex / Complex V 871 protein-coding gene gene with protein product ATPase inhibitor protein, ATP synthase inhibitor protein 614981 NA 10664857, 19559621 Standard NM_016311 NM_016311 NA Approved ATPI, IP, ATPIP, MGC1167, MGC8898 uc001bpq.3 Q9UII2 OTTHUMG00000003533 ENST00000468425.2:c.179+687G>A chr1.hg19:g.28563650G>A NA Q5JXL8|Q6IAQ7|Q9BSL9 hg19 0.02 5.718303 CTGxAGA COVERED NOVEL ATPIF1-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000009844.2 2 15.348206 KEEP 0 0 0 51 1740 GG 1 1 0 + 7 60 234 0 0 14.169647 158 60 5781 241 ENST00000468425.2 0.042424 1 OPRD1 4985 __UNKNOWN__ __UNKNOWN__ 1 29189597 29189597 __UNKNOWN__ Silent SNP C C T rs2234918 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:29189597C>T ENST00000234961.2 + 3 1163 c.921C>T c.(919-921)ggC>ggT p.G307G NM_000911.3 NP_000902.3 P41143 OPRD_HUMAN opioid receptor, delta 1 307 NA adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adult locomotory behavior (GO:0008344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|negative regulation of gene expression (GO:0010629)|negative regulation of protein oligomerization (GO:0032460)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein import into nucleus, translocation (GO:0000060)|regulation of calcium ion transport (GO:0051924)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of sensory perception of pain (GO:0051930) axon terminus (GO:0043679)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982) enkephalin receptor activity (GO:0038046)|opioid receptor activity (GO:0004985) breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147) Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193) TCGCGCTGGGCTACGCCAATA 0.667 NA C||| 2911 0.58127 0.3056 0.7032 5008 , , NA 15581 0.754 NA 0.5726 False NA ,,, NA NA NA 2504 0.6984 NA NA NA NA 0 C 1507,2897 274,959,969 29 26 27 http://www.ncbi.nlm.nih.gov/omim/103780,165195|http://omim.org/entry/165195|http://omim.org/entry/103780 921 3.2 1 1 dbSNP_98 27 4618,3982 1248,2122,930 no coding-synonymous OPRD1 NM_000911.3 1522,3081,1899 TT,TC,CC 46.3023,34.2189,47.1009 307/373 29189597 6125,6879 2202 4300 6502 SO:0001819 synonymous_variant U10504 CCDS329.1 1p36.1-p34.3 2012-08-08 ENSG00000116329 ENSG00000116329 4985 GPCR / Class A : Opioid receptors 8153 protein-coding gene gene with protein product 165195 NA 8415697 Standard NM_000911 NM_000911 NA Approved uc001brf.1 P41143 OTTHUMG00000003646 ENST00000234961.2:c.921C>T chr1.hg19:g.29189597C>T NA B5B0B8 hg19 CCDS329.1 0.02 17.243135 GGGxTAC COVERED NOVEL OPRD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000010330.1 1 21.337832 KEEP 0 2 57 91 3294 CC 1 1 0 + 25 60 876 0 0 58.770395 381 60 14258 631 ENST00000234961.2 0.061576 1 OPRD1 4985 __UNKNOWN__ __UNKNOWN__ 1 29190138 29190138 __UNKNOWN__ 3'UTR SNP G G A rs4654327 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:29190138G>A ENST00000234961.2 + 0 1704 NM_000911.3 NP_000902.3 P41143 OPRD_HUMAN opioid receptor, delta 1 NA NA adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adult locomotory behavior (GO:0008344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|negative regulation of gene expression (GO:0010629)|negative regulation of protein oligomerization (GO:0032460)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein import into nucleus, translocation (GO:0000060)|regulation of calcium ion transport (GO:0051924)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of sensory perception of pain (GO:0051930) axon terminus (GO:0043679)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982) enkephalin receptor activity (GO:0038046)|opioid receptor activity (GO:0004985) breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147) Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193) CCAGGAAGGCGGGGCTTCAAC 0.612 NA G||| 2814 0.561901 0.2874 0.6455 5008 , , NA 16193 0.7589 NA 0.5467 False NA ,,, NA NA NA 2504 0.6861 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U10504 CCDS329.1 1p36.1-p34.3 2012-08-08 ENSG00000116329 ENSG00000116329 4985 GPCR / Class A : Opioid receptors 8153 protein-coding gene gene with protein product 165195 NA 8415697 Standard NM_000911 NM_000911 NA Approved uc001brf.1 P41143 OTTHUMG00000003646 ENST00000234961.2:c.*343G>A chr1.hg19:g.29190138G>A NA B5B0B8 hg19 CCDS329.1 0.02 1.872321 GGCxGGG COVERED NOVEL OPRD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000010330.1 2 5.115889 KEEP 0 0 0 17 569 GG 0.999366 0.999261 0 + 9 60 329 0 0 24.357617 84 60 2894 140 ENST00000234961.2 0.096774 0.999895 EPB41 2035 __UNKNOWN__ __UNKNOWN__ 1 29439016 29439016 __UNKNOWN__ Intron SNP T T A rs4654390 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:29439016T>A ENST00000343067.4 + 19 2623 EPB41_ENST00000373800.3_Intron|EPB41_ENST00000460378.1_Intron|EPB41_ENST00000373798.1_Intron|EPB41_ENST00000349460.4_Intron|EPB41_ENST00000356093.2_Intron|EPB41_ENST00000347529.3_Intron|EPB41_ENST00000398863.2_Intron NM_001166005.1 NP_001159477.1 P11171 41_HUMAN erythrocyte membrane protein band 4.1 NA NA actin cytoskeleton organization (GO:0030036)|blood circulation (GO:0008015)|cortical actin cytoskeleton organization (GO:0030866)|positive regulation of protein binding (GO:0032092) cortical cytoskeleton (GO:0030863)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731) 1-phosphatidylinositol binding (GO:0005545)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200) NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1) 14 Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123) Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757) GGAAGACCGATGAATACAGGA 0.458 NA T||| 2016 0.402556 0.1286 0.4957 5008 , , NA 18715 0.4325 NA 0.5159 False NA ,,, NA NA NA 2504 0.5593 NA NA NA NA 0 T ,,,, 300,1084 36,228,428 76 62 66 ,,,, -6.3 0 1 dbSNP_111 66 1497,1685 337,823,431 no intron,intron,intron,intron,intron EPB41 NM_001166005.1,NM_001166007.1,NM_004437.3,NM_203342.2,NM_203343.2 ,,,, 373,1051,859 AA,AT,TT 47.0459,21.6763,39.3561 ,,,, ,,,, 29439016 1797,2769 692 1591 2283 SO:0001627 intron_variant BC039079 CCDS330.1, CCDS331.1, CCDS332.1, CCDS53288.1, CCDS53289.1 1p33-p32 2014-05-09 2014-05-09 ENSG00000159023 ENSG00000159023 2035 3377 protein-coding gene gene with protein product 130500 elliptocytosis 1, RH-linked EL1 NA Standard NM_203342 NM_001166005 NA Approved 4.1R uc001brm.2 P11171 OTTHUMG00000003644 ENST00000343067.4:c.2496+56T>A chr1.hg19:g.29439016T>A NA B1ALH8|B1ALH9|D3DPM9|D3DPN0|P11176|Q14245|Q5TB35|Q5VXN8|Q8IXV9|Q9Y578|Q9Y579 hg19 CCDS53288.1 0.02 8.703764 CGAxGAA COVERED NOVEL EPB41-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000010312.1 1 17.687466 KEEP 0 1 32 70 2231 TT 1 1 0 + 9 60 340 0 0 21.941784 213 60 7870 362 ENST00000343067.4 0.040541 1 MECR 51102 __UNKNOWN__ __UNKNOWN__ 1 29520135 29520135 __UNKNOWN__ 3'UTR SNP C C T rs139743518 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:29520135C>T ENST00000373791.3 - 0 1665 NM_001024732.1|NM_016011.2 NP_001019903|NP_057095.3 Q9BV79 MECR_HUMAN mitochondrial trans-2-enoyl-CoA reductase NA NA fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631) mitochondrion (GO:0005739) trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166)|zinc ion binding (GO:0008270) NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1) 11 Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123) Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137) CGTCTGTGGGCTTGTGCAGCT 0.577 NA C||| 16 0.00319489 0.0 0.0 5008 , , NA 18692 0.0159 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS30659.1, CCDS30660.1 1p35.3 2012-09-20 ENSG00000116353 ENSG00000116353 51102 1.3.1.38 19691 protein-coding gene gene with protein product nuclear receptor binding factor 1, mitochondrial 2-enoyl thioester reductase 608205 NA 9795230, 12654921 Standard NM_016011 XM_005245885 NA Approved CGI-63, NRBF1, FASN2B uc001brq.1 Q9BV79 OTTHUMG00000059082 ENST00000373791.3:c.*399G>A chr1.hg19:g.29520135C>T NA B3KT72|Q5SYU0|Q5SYU1|Q5SYU2|Q6IBU9|Q9Y373 hg19 CCDS30660.1 0.02 6.389824 GGGxTTG COVERED NOVEL MECR-002 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000130741.1 1 8.7287 KEEP 0 0 0 29 1046 CC 0.999997 0.999997 0 - 6 60 222 0 0 13.82575 162 60 6223 240 ENST00000373791.3 0.035714 1 MECR 51102 __UNKNOWN__ __UNKNOWN__ 1 29522384 29522384 __UNKNOWN__ Intron SNP G G A rs2291611 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:29522384G>A ENST00000263702.6 - 9 990 MECR_ENST00000373791.3_Intron Q9BV79 MECR_HUMAN mitochondrial trans-2-enoyl-CoA reductase NA NA fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631) mitochondrion (GO:0005739) trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166)|zinc ion binding (GO:0008270) NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1) 11 Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123) Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137) CAGAATAGCTGGTCATTTCTG 0.522 NA G||| 1025 0.204673 0.1225 0.17 5008 , , NA 19916 0.4117 NA 0.0875 False NA ,,, NA NA NA 2504 0.2474 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS30659.1, CCDS30660.1 1p35.3 2012-09-20 ENSG00000116353 ENSG00000116353 51102 1.3.1.38 19691 protein-coding gene gene with protein product nuclear receptor binding factor 1, mitochondrial 2-enoyl thioester reductase 608205 NA 9795230, 12654921 Standard NM_016011 XM_005245885 NA Approved CGI-63, NRBF1, FASN2B uc001brq.1 Q9BV79 OTTHUMG00000059082 ENST00000263702.6:c.964+68C>T chr1.hg19:g.29522384G>A NA B3KT72|Q5SYU0|Q5SYU1|Q5SYU2|Q6IBU9|Q9Y373 hg19 CCDS30659.1 0.02 8.111547 GCTxGTC COVERED NOVEL MECR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000130740.1 0 12.640954 KEEP 0 0 0 42 1472 GG 1 1 0 - 11 60 389 0 0 24.686015 233 60 8941 302 ENST00000263702.6 0.045082 1 PTPRU 10076 __UNKNOWN__ __UNKNOWN__ 1 29563411 29563411 __UNKNOWN__ Intron SNP G G A rs12041477 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:29563411G>A ENST00000345512.3 + 1 202 PTPRU_ENST00000323874.8_Intron|PTPRU_ENST00000373779.3_Intron|PTPRU_ENST00000428026.2_Intron|PTPRU_ENST00000356870.3_Intron|PTPRU_ENST00000460170.2_Intron NM_005704.4 NP_005695.3 Q92729 PTPRU_HUMAN protein tyrosine phosphatase, receptor type, U NA NA canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185) cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001) breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 79 Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871) TTGTGTGTCCGTGAGTTCTGT 0.572 NA g||| 1027 0.205072 0.1225 0.1715 5008 , , NA 17884 0.4117 NA 0.0875 False NA ,,, NA NA NA 2504 0.2485 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U71075 CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1 1p35.3 2013-02-11 ENSG00000060656 ENSG00000060656 10076 Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Fibronectin type III domain containing 9683 protein-coding gene gene with protein product pi R-PTP-Psi 602454 NA 8700514, 9434160 Standard NM_133178 NA Approved PTPRO, hPTP-J, PCP-2, FMI, PTP uc001bru.3 Q92729 OTTHUMG00000003699 ENST00000345512.3:c.73+182G>A chr1.hg19:g.29563411G>A NA A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850 hg19 CCDS334.1 0.02 8.870466 TCCxTGA COVERED NOVEL PTPRU-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000010447.1 1 25.581021 KEEP 0 0 0 85 2913 GG 1 1 0 + 10 60 350 0 0 22.476774 193 60 7165 302 ENST00000345512.3 0.049261 1 PTPRU 10076 __UNKNOWN__ __UNKNOWN__ 1 29581937 29581937 __UNKNOWN__ Intron SNP G G A rs16838065 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:29581937G>A ENST00000345512.3 + 2 334 PTPRU_ENST00000323874.8_Intron|PTPRU_ENST00000373779.3_Intron|PTPRU_ENST00000428026.2_Intron|PTPRU_ENST00000356870.3_Intron|PTPRU_ENST00000460170.2_Intron NM_005704.4 NP_005695.3 Q92729 PTPRU_HUMAN protein tyrosine phosphatase, receptor type, U NA NA canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185) cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001) breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 79 Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871) ACTCTCCATCGCCATTACCCC 0.577 NA G||| 820 0.163738 0.0968 0.1398 5008 , , NA 20201 0.3393 NA 0.0736 False NA ,,, NA NA NA 2504 0.183 NA NA NA NA 0 G ,,, 414,3992 200.8+/-224.0 28,358,1817 76 74 75 ,,, -2.7 0 1 dbSNP_123 75 575,8025 153.7+/-208.1 20,535,3745 no intron,intron,intron,intron PTPRU NM_001195001.1,NM_005704.4,NM_133177.3,NM_133178.3 ,,, 48,893,5562 AA,AG,GG 6.686,9.3963,7.6042 ,,, ,,, 29581937 989,12017 2203 4300 6503 SO:0001627 intron_variant U71075 CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1 1p35.3 2013-02-11 ENSG00000060656 ENSG00000060656 10076 Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Fibronectin type III domain containing 9683 protein-coding gene gene with protein product pi R-PTP-Psi 602454 NA 8700514, 9434160 Standard NM_133178 NA Approved PTPRO, hPTP-J, PCP-2, FMI, PTP uc001bru.3 Q92729 OTTHUMG00000003699 ENST00000345512.3:c.205+19G>A chr1.hg19:g.29581937G>A NA A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850 hg19 CCDS334.1 0.02 16.900586 ATCxCCA COVERED NOVEL PTPRU-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000010447.1 4 28.8937 KEEP 0 0 0 96 3402 GG 1 1 0 + 14 60 488 0 0 28.71315 420 60 15189 663 ENST00000345512.3 0.032258 1 MATN1 4146 __UNKNOWN__ __UNKNOWN__ 1 31189194 31189194 __UNKNOWN__ Intron SNP C C T rs116244983 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:31189194C>T ENST00000373765.4 - 5 826 MATN1_ENST00000477320.1_Intron NM_002379.3 NP_002370.1 P21941 MATN1_HUMAN matrilin 1, cartilage matrix protein NA NA extracellular matrix organization (GO:0030198)|growth plate cartilage chondrocyte morphogenesis (GO:0003429)|protein complex assembly (GO:0006461)|regulation of bone mineralization (GO:0030500) extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578) extracellular matrix structural constituent (GO:0005201) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 12 Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123) Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649) AGGAAGGCAACGGGCTGAAGC 0.572 NA C||| 139 0.0277556 0.0257 0.0202 5008 , , NA 20418 0.0873 NA 0.002 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 C 91,4315 74.7+/-112.8 1,89,2113 41 35 37 -1.6 0 1 dbSNP_132 37 5,8595 3.7+/-12.6 0,5,4295 no intron MATN1 NM_002379.3 1,94,6408 TT,TC,CC 0.0581,2.0654,0.7381 31189194 96,12910 2203 4300 6503 SO:0001627 intron_variant M55675 CCDS336.1 1p35 2008-02-05 ENSG00000162510 ENSG00000162510 4146 6907 protein-coding gene gene with protein product 115437 CRTM, CMP NA 2246248, 9083061 Standard NM_002379 NM_002379 NA Approved uc001brz.3 P21941 OTTHUMG00000003705 ENST00000373765.4:c.791-22G>A chr1.hg19:g.31189194C>T NA B2R7E3|Q5TBB9 hg19 CCDS336.1 0.02 1.868862 CAAxGGG COVERED NOVEL MATN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000010458.1 1 4.810401 KEEP 0 0 0 16 513 CC 0.997832 0.99724 0 - 6 60 200 0 0 13.577045 76 60 2482 107 ENST00000373765.4 0.073171 0.999407 LAPTM5 7805 __UNKNOWN__ __UNKNOWN__ 1 31205395 31205395 __UNKNOWN__ 3'UTR SNP C C T rs9146 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:31205395C>T ENST00000294507.3 - 0 2143 NM_006762.2 NP_006753.1 Q13571 LAPM5_HUMAN lysosomal protein transmembrane 5 NA NA transport (GO:0006810) integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764) large_intestine(2)|lung(7)|skin(1) 10 Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192) STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649) CCAGGGAGCTCTTGCAGAGCC 0.572 NA c||| 320 0.0638978 0.1483 0.0274 5008 , , NA 15189 0.1002 NA 0.001 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U51240 CCDS337.1 1p34 2009-07-20 2009-07-20 ENSG00000162511 ENSG00000162511 7805 29612 protein-coding gene gene with protein product 601476 lysosomal multispanning membrane protein 5 NA 8661146, 12527926 Standard NM_006762 NM_006762 NA Approved uc001bsc.2 Q13571 OTTHUMG00000003707 ENST00000294507.3:c.*1280G>A chr1.hg19:g.31205395C>T NA Q13240|Q14698|Q3KP54 hg19 CCDS337.1 0.02 6.144671 GCTxTTG COVERED NOVEL LAPTM5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000010463.1 0 15.349148 KEEP 0 0 0 51 1798 CC 1 1 0 - 6 60 222 0 0 13.432355 189 60 7074 314 ENST00000294507.3 0.030769 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 31230668 31230668 __UNKNOWN__ IGR SNP C C T rs2273979 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:31230668C>T NA NA LAPTM5 (1 upstream) : RP5-1125N11.1 (52556 downstream) NA NA NA GAAGGGGAAGCTGCTGGCTGC 0.662 NA C||| 1298 0.259185 0.3411 0.4164 5008 , , NA 15048 0.2569 NA 0.173 False NA ,,, NA NA NA 2504 0.1278 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.31230668C>T NA hg19 0.02 1.681415 AAGxTGC COVERED NOVEL 0 0 6.922273 KEEP 0 0 0 23 809 CC 0.999892 0.999773 0 5 60 169 0 0 10.856682 87 60 3185 124 0.054348 0.999881 SDC3 9672 __UNKNOWN__ __UNKNOWN__ 1 31342387 31342387 __UNKNOWN__ 3'UTR SNP A A C rs45440502|rs148019842 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:31342387A>C ENST00000336798.7 - 0 6318 O75056 SDC3_HUMAN syndecan 3 NA NA carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281) Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886) NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151) STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649) aacaaacaaaaaaaaaaaaaa 0.373 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF248634 CCDS30661.1 1p35.2 2013-09-19 2007-02-15 ENSG00000162512 ENSG00000162512 9672 Proteoglycans / Cell Surface : Syndecans 10660 protein-coding gene gene with protein product syndecan proteoglycan 3 186357 syndecan 3 (N-syndecan) NA 1556152, 11527150 Standard NM_014654 NM_014654 NA Approved N-syndecan, SYND3 uc001bse.2 O75056 OTTHUMG00000043646 ENST00000336798.7:c.*3671T>G chr1.hg19:g.31342387A>C NA Q5T1Z6|Q5T1Z7|Q96CT3|Q96PR8 hg19 0.02 -0.096506 AAAxAAA UNCOVERED NOVEL SDC3-001 KNOWN basic protein_coding NA protein_coding OTTHUMT00000102016.1 2 4.213282 KEEP 0 0 0 14 459 AA 0.995343 0.119875 0 - 2 60 78 2 0 6.581128 8 70 296 33 ENST00000336798.7 0.2 0.120436 SDC3 9672 __UNKNOWN__ __UNKNOWN__ 1 31346057 31346057 __UNKNOWN__ 3'UTR SNP A A G rs3766284 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:31346057A>G ENST00000339394.6 - 0 1504 SDC3_ENST00000336798.7_3'UTR NM_014654.3 NP_055469.3 O75056 SDC3_HUMAN syndecan 3 NA NA carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281) Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886) NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151) STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649) CTGTGGCTCCACTAGGCATAG 0.612 NA A||| 822 0.164137 0.0174 0.1729 5008 , , NA 19452 0.5278 NA 0.0149 False NA ,,, NA NA NA 2504 0.135 NA NA NA NA 0 A 128,4278 93.0+/-131.7 0,128,2075 178 130 146 -3.1 0.9 1 dbSNP_107 146 37,8563 25.7+/-73.6 0,37,4263 no utr-3 SDC3 NM_014654.3 0,165,6338 GG,GA,AA 0.4302,2.9051,1.2686 31346057 165,12841 2203 4300 6503 SO:0001624 3_prime_UTR_variant AF248634 CCDS30661.1 1p35.2 2013-09-19 2007-02-15 ENSG00000162512 ENSG00000162512 9672 Proteoglycans / Cell Surface : Syndecans 10660 protein-coding gene gene with protein product syndecan proteoglycan 3 186357 syndecan 3 (N-syndecan) NA 1556152, 11527150 Standard NM_014654 NM_014654 NA Approved N-syndecan, SYND3 uc001bse.2 O75056 OTTHUMG00000043646 ENST00000339394.6:c.*1T>C chr1.hg19:g.31346057A>G NA Q5T1Z6|Q5T1Z7|Q96CT3|Q96PR8 hg19 CCDS30661.1 0.02 12.596745 TCCxCTA COVERED NOVEL SDC3-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000102017.1 4 22.265769 KEEP 0 0 0 74 2289 AA 1 1 0 - 12 60 415 0 0 24.975717 311 60 11064 518 ENST00000339394.6 0.037152 1 SDC3 9672 __UNKNOWN__ __UNKNOWN__ 1 31351513 31351513 __UNKNOWN__ Silent SNP G G A rs1891419 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:31351513G>A ENST00000339394.6 - 2 387 c.213C>T c.(211-213)ccC>ccT p.P71P SDC3_ENST00000471567.1_5'UTR|SDC3_ENST00000336798.7_5'UTR NM_014654.3 NP_055469.3 O75056 SDC3_HUMAN syndecan 3 71 NA carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281) Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886) NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151) STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649) GTTCATCATCGGGAAAGGAGT 0.617 NA G||| 891 0.177915 0.0295 0.2795 5008 , , NA 19140 0.1111 NA 0.3042 False NA ,,, NA NA NA 2504 0.2454 NA NA NA NA 0 G 334,4072 175.5+/-204.9 16,302,1885 130 115 120 213 -9.2 0.7 1 dbSNP_92 120 2428,6172 402.5+/-347.5 332,1764,2204 no coding-synonymous SDC3 NM_014654.3 348,2066,4089 AA,AG,GG 28.2326,7.5806,21.2364 71/443 31351513 2762,10244 2203 4300 6503 SO:0001819 synonymous_variant AF248634 CCDS30661.1 1p35.2 2013-09-19 2007-02-15 ENSG00000162512 ENSG00000162512 9672 Proteoglycans / Cell Surface : Syndecans 10660 protein-coding gene gene with protein product syndecan proteoglycan 3 186357 syndecan 3 (N-syndecan) NA 1556152, 11527150 Standard NM_014654 NM_014654 NA Approved N-syndecan, SYND3 uc001bse.2 O75056 OTTHUMG00000043646 ENST00000339394.6:c.213C>T chr1.hg19:g.31351513G>A NA Q5T1Z6|Q5T1Z7|Q96CT3|Q96PR8 hg19 CCDS30661.1 0.02 21.210389 ATCxGGA COVERED NOVEL SDC3-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000102017.1 2 39.424451 KEEP 0 0 0 131 4454 GG 1 1 0 - 17 60 615 0 0 37.105255 504 60 17751 829 ENST00000339394.6 0.03263 1 AK2 204 __UNKNOWN__ __UNKNOWN__ 1 33476143 33476143 __UNKNOWN__ 3'UTR SNP G G A rs201412582 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:33476143G>A ENST00000373449.2 - 0 1027 AK2_ENST00000548033.1_3'UTR|RP1-117O3.2_ENST00000427524.1_RNA NM_001199199.1|NM_013411.4 NP_001186128.1|NP_037543.1 adenylate kinase 2 NA NA kidney(1)|large_intestine(2)|lung(4)|skin(1) 8 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837) ATGAAAACCCGATTCCTTAGA 0.373 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U84371 CCDS373.1, CCDS374.1 1p35.1 2014-09-17 ENSG00000004455 ENSG00000004455 204 2.7.4.3 Adenylate kinases 362 protein-coding gene gene with protein product 103020 NA 8843353, 6961883 Standard NM_001625 NM_013411 NA Approved uc001bwp.2 P54819 OTTHUMG00000004131 ENST00000373449.2:c.*287C>T chr1.hg19:g.33476143G>A NA hg19 CCDS373.1 0.02 38.408293 CCCxATT COVERED NOVEL AK2-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000011884.1 6 13.065743 KEEP 83 18 551 237 8189 GG 1 1 0 - 104 40 3768 0 0 296.018206 636 60 22571 1357 ENST00000373449.2 0.140541 1 AK2 204 __UNKNOWN__ __UNKNOWN__ 1 33476237 33476237 __UNKNOWN__ 3'UTR SNP T T C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:33476237T>C ENST00000373449.2 - 0 933 AK2_ENST00000491241.1_5'UTR|AK2_ENST00000548033.1_3'UTR|RP1-117O3.2_ENST00000427524.1_RNA NM_001199199.1|NM_013411.4 NP_001186128.1|NP_037543.1 adenylate kinase 2 NA NA kidney(1)|large_intestine(2)|lung(4)|skin(1) 8 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837) CTTTAAAAACTCTCACCTATG 0.403 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U84371 CCDS373.1, CCDS374.1 1p35.1 2014-09-17 ENSG00000004455 ENSG00000004455 204 2.7.4.3 Adenylate kinases 362 protein-coding gene gene with protein product 103020 NA 8843353, 6961883 Standard NM_001625 NM_013411 NA Approved uc001bwp.2 P54819 OTTHUMG00000004131 ENST00000373449.2:c.*193A>G chr1.hg19:g.33476237T>C NA hg19 CCDS373.1 0.02 40.850777 AACxCTC COVERED NOVEL AK2-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000011884.1 29 7.69299 KEEP 1 17 600 235 7443 TT 1 1 0 - 79 68 2842 0 0 212.974057 659 70 24181 1315 ENST00000373449.2 0.107046 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 36032617 36032617 __UNKNOWN__ IGR SNP C C T rs2107782 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:36032617C>T NA NA NCDN (237 upstream) : RP4-728D4.2 (2796 downstream) NA NA NA acaggccatccgactccccag 0.517 NA C||| 1550 0.309505 0.41 0.2839 5008 , , NA 17875 0.6528 NA 0.0268 False NA ,,, NA NA NA 2504 0.1288 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.36032617C>T NA hg19 0.02 4.36188 ATCxGAC COVERED NOVEL 0 0 5.048058 KEEP 0 1 29 27 884 CC 0.999997 0.999997 0 9 60 335 0 0 23.687182 118 60 3891 174 0.070866 1 C1orf216 127703 __UNKNOWN__ __UNKNOWN__ 1 36180972 36180972 __UNKNOWN__ 3'UTR SNP C C T rs3795501 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:36180972C>T ENST00000270815.4 - 0 1721 NM_152374.1 NP_689587.1 Q8TAB5 CA216_HUMAN chromosome 1 open reading frame 216 NA NA kidney(2)|lung(3)|skin(2)|urinary_tract(1) 8 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196) ACATACTACACACACACACAT 0.423 NA OREG0013357 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) C||| 1140 0.227636 0.1021 0.3055 5008 , , NA 27083 0.6726 NA 0.0229 False NA ,,, NA NA NA 2504 0.0941 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK096303 CCDS395.1 1p34.3 2007-08-10 ENSG00000142686 ENSG00000142686 127703 26800 protein-coding gene gene with protein product NA 12477932 Standard NM_152374 NM_152374 NA Approved FLJ38984 uc001bzh.1 Q8TAB5 OTTHUMG00000004167 ENST00000270815.4:c.*261G>A chr1.hg19:g.36180972C>T 861 D3DPS1|Q8N8N6 hg19 CCDS395.1 0.02 13.680929 ACAxACA COVERED NOVEL C1orf216-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000012013.3 2 21.671303 KEEP 0 0 0 72 2592 CC 1 1 0 - 15 60 505 1 1 30.038312 377 60 14537 552 ENST00000270815.4 0.038265 1 CLSPN 63967 __UNKNOWN__ __UNKNOWN__ 1 36186106 36186106 __UNKNOWN__ 3'UTR SNP A A G rs6658453 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:36186106A>G ENST00000251195.5 - 0 4481 Q9HAW4 CLSPN_HUMAN claspin NA NA activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|mitotic DNA replication checkpoint (GO:0033314)|peptidyl-serine phosphorylation (GO:0018105) nucleoplasm (GO:0005654) anaphase-promoting complex binding (GO:0010997)|DNA binding (GO:0003677) NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) gctggagtgcagtggcgcaat 0.532 NA A||| 1442 0.287939 0.2156 0.3602 5008 , , NA 12823 0.6736 NA 0.0905 False NA ,,, NA NA NA 2504 0.1401 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF297866 CCDS396.1, CCDS53297.1 1p34.3 2010-06-24 2010-06-24 ENSG00000092853 ENSG00000092853 63967 19715 protein-coding gene gene with protein product 605434 claspin homolog (Xenopus laevis) NA 11090622, 12766152 Standard NM_022111 NM_022111 NA Approved uc001bzi.3 Q9HAW4 OTTHUMG00000004168 ENST00000251195.5:c.*386T>C chr1.hg19:g.36186106A>G NA A6NFL4|Q1RMC6|Q2KHM3|Q5VYG0|Q6P6H5|Q8IWI1 hg19 0.02 2.222791 TGCxGTG COVERED NOVEL CLSPN-001 KNOWN basic protein_coding NA protein_coding OTTHUMT00000012014.4 3 3.009069 KEEP 0 0 0 10 310 AA 0.992708 0.966863 0 - 4 60 140 0 0 9.857144 46 60 1684 67 ENST00000251195.5 0.08 0.973965 CLSPN 63967 __UNKNOWN__ __UNKNOWN__ 1 36225948 36225948 __UNKNOWN__ Missense_Mutation SNP T T C rs7537203 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:36225948T>C ENST00000318121.3 - 8 1631 c.1574A>G c.(1573-1575)aAc>aGc p.N525S CLSPN_ENST00000251195.5_Missense_Mutation_p.N525S|CLSPN_ENST00000520551.1_Missense_Mutation_p.N525S|CLSPN_ENST00000373220.3_Missense_Mutation_p.N525S NM_022111.3 NP_071394.2 Q9HAW4 CLSPN_HUMAN claspin 525 NA N -> S (in dbSNP:rs7537203). activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|mitotic DNA replication checkpoint (GO:0033314)|peptidyl-serine phosphorylation (GO:0018105) nucleoplasm (GO:0005654) anaphase-promoting complex binding (GO:0010997)|DNA binding (GO:0003677) NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) ATTACCTCTGTTGGTTTCAGG 0.438 NA T||| 2272 0.453674 0.674 0.4323 5008 , , NA 18733 0.7401 NA 0.1352 False NA ,,, NA NA NA 2504 0.2035 NA NA NA NA 0 T SER/ASN,SER/ASN 2607,1799 641.4+/-397.5 778,1051,374 88 82 84 1574,1574 5.1 1 1 dbSNP_116 84 1148,7452 235.8+/-268.3 90,968,3242 yes missense,missense CLSPN NM_001190481.1,NM_022111.3 46,46 868,2019,3616 CC,CT,TT 13.3488,40.8307,28.8713 benign,benign 525/1276,525/1340 36225948 3755,9251 2203 4300 6503 SO:0001583 missense AF297866 CCDS396.1, CCDS53297.1 1p34.3 2010-06-24 2010-06-24 ENSG00000092853 ENSG00000092853 63967 19715 protein-coding gene gene with protein product 605434 claspin homolog (Xenopus laevis) NA 11090622, 12766152 Standard NM_022111 NM_022111 NA Approved uc001bzi.3 Q9HAW4 OTTHUMG00000004168 ENST00000318121.3:c.1574A>G chr1.hg19:g.36225948T>C ENSP00000312995:p.Asn525Ser NA A6NFL4|Q1RMC6|Q2KHM3|Q5VYG0|Q6P6H5|Q8IWI1 hg19 CCDS396.1 0.02 11.905617 CTGxTGG COVERED 1010 0.4624542124542125 316 0.6422764227642277 143 0.39502762430939226 449 0.784965034965035 102 0.1345646437994723 T 19.48 3.835941 0.71373 0.591693 0.133488 ENSG00000092853 ENST00000251195;ENST00000318121;ENST00000373220;ENST00000520551;ENST00000544356 T;T;T;T 0.30182 1.62;1.63;1.73;1.54 5.08 5.08 0.68730 . 0.046376 0.85682 D 0.000000 T 0.00012 0.0000 M 0.72894 2.215 0.25761 P 0.984948 D;D 0.76494 0.999;0.998 D;D 0.80764 0.994;0.994 T 0.15292 -1.0442 9 0.44086 T 0.13 -16.2566 13.4062 0.60915 0.0:0.0:0.0:1.0 rs7537203;rs57440681;rs7537203 525;525 Q9HAW4-2;Q9HAW4 .;CLSPN_HUMAN S 525 ENSP00000251195:N525S;ENSP00000312995:N525S;ENSP00000362317:N525S;ENSP00000428848:N525S ENSP00000251195:N525S N - 2 0 CLSPN 35998535 1.000000 0.71417 1.000000 0.80357 0.983000 0.72400 3.600000 0.54052 1.907000 0.55213 0.482000 0.46254 AAC NOVEL CLSPN-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000377857.1 5 14.141327 KEEP 0 0 0 47 1467 TT 1 1 0 - 14 60 539 0 0 36.01669 286 60 10116 412 ENST00000318121.3 0.046667 1 AGO1 26523 __UNKNOWN__ __UNKNOWN__ 1 36367780 36367780 __UNKNOWN__ Intron SNP A A G rs595961 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:36367780A>G ENST00000373204.4 + 11 1476 AGO1_ENST00000373206.1_Intron NM_012199.2 NP_036331.1 Q9UL18 AGO1_HUMAN argonaute RISC catalytic component 1 NA NA epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529) poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723) NA AGGCTCACCTAGGCGCCCCCT 0.582 NA G||| 2736 0.546326 0.8843 0.4669 5008 , , NA 17135 0.7748 NA 0.1412 False NA ,,, NA NA NA 2504 0.3272 NA NA NA NA 0 G 3301,1105 393.1+/-328.7 1261,779,163 91 111 104 3.8 1 1 dbSNP_83 104 1234,7366 760.8+/-407.6 101,1032,3167 no intron EIF2C1 NM_012199.2 1362,1811,3330 GG,GA,AA 14.3488,25.0794,34.8685 36367780 4535,8471 2203 4300 6503 SO:0001627 intron_variant AF093097 CCDS398.1 1p34.3 2013-02-15 2013-02-15 2013-02-15 ENSG00000092847 ENSG00000092847 26523 Argonaute/PIWI family 3262 protein-coding gene gene with protein product argonaute 1 606228 eukaryotic translation initiation factor 2C, 1 EIF2C1 NA 10534406, 12906857 Standard NM_012199 NA Approved hAGO1 uc001bzl.3 Q9UL18 OTTHUMG00000007381 ENST00000373204.4:c.1264-25A>G chr1.hg19:g.36367780A>G NA Q5TA57|Q6P4S0 hg19 CCDS398.1 0.02 11.940676 CCTxGGC COVERED NOVEL AGO1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000019337.3 3 17.750775 KEEP 0 0 0 59 1798 AA 1 1 0 + 11 60 396 0 0 25.090594 251 60 8893 380 ENST00000373204.4 0.041985 1 AGO1 26523 __UNKNOWN__ __UNKNOWN__ 1 36385061 36385061 __UNKNOWN__ Intron SNP G G A rs4142288 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:36385061G>A ENST00000373204.4 + 19 2678 AGO1_ENST00000373206.1_Intron NM_012199.2 NP_036331.1 Q9UL18 AGO1_HUMAN argonaute RISC catalytic component 1 NA NA epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529) poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723) NA GCAGCTCTCAGTTCACCAGGA 0.557 NA G||| 1088 0.217252 0.112 0.3026 5008 , , NA 18627 0.6498 NA 0.0119 False NA ,,, NA NA NA 2504 0.0644 NA NA NA NA 0 G 463,3937 21,421,1758 16 17 17 1 0.9 1 dbSNP_110 17 72,8520 0,72,4224 no intron EIF2C1 NM_012199.2 21,493,5982 AA,AG,GG 0.838,10.5227,4.1179 36385061 535,12457 2200 4296 6496 SO:0001627 intron_variant AF093097 CCDS398.1 1p34.3 2013-02-15 2013-02-15 2013-02-15 ENSG00000092847 ENSG00000092847 26523 Argonaute/PIWI family 3262 protein-coding gene gene with protein product argonaute 1 606228 eukaryotic translation initiation factor 2C, 1 EIF2C1 NA 10534406, 12906857 Standard NM_012199 NA Approved hAGO1 uc001bzl.3 Q9UL18 OTTHUMG00000007381 ENST00000373204.4:c.2466-39G>A chr1.hg19:g.36385061G>A NA Q5TA57|Q6P4S0 hg19 CCDS398.1 0.02 4.173631 TCAxTTC COVERED NOVEL AGO1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000019337.3 2 7.223867 KEEP 0 0 0 24 881 GG 0.999909 0.999909 0 + 6 60 227 0 0 14.866616 131 60 4937 189 ENST00000373204.4 0.043796 1 ADPRHL2 54936 __UNKNOWN__ __UNKNOWN__ 1 36556757 36556757 __UNKNOWN__ Intron SNP G G T rs767999 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:36556757G>T ENST00000373178.4 + 2 241 NM_017825.2 NP_060295.1 Q9NX46 ARHL2_HUMAN ADP-ribosylhydrolase like 2 NA NA mitochondrion (GO:0005739)|nucleus (GO:0005634) metal ion binding (GO:0046872)|poly(ADP-ribose) glycohydrolase activity (GO:0004649) cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|pancreas(1) 8 Myeloproliferative disorder(586;0.0393) gcaacagagcgagactctgtc 0.498 NA G||| 295 0.0589058 0.0068 0.0548 5008 , , NA 20331 0.2331 NA 0.002 False NA ,,, NA NA NA 2504 0.0112 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ427295 CCDS402.1 1p34.3 2008-02-05 ENSG00000116863 ENSG00000116863 54936 21304 protein-coding gene gene with protein product 610624 NA 12070318, 16278211 Standard NM_017825 NM_017825 NA Approved ARH3, FLJ20446 uc001bzt.3 Q9NX46 OTTHUMG00000007628 ENST00000373178.4:c.212-88G>T chr1.hg19:g.36556757G>T NA Q53G94|Q6IAB8|Q9BY47 hg19 CCDS402.1 0.02 4.48988 AGCxAGA COVERED NOVEL ADPRHL2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000020199.1 5 14.377924 KEEP 0 1 32 59 1938 GG 1 0.999968 0 + 5 60 183 0 0 12.046667 96 60 3076 177 ENST00000373178.4 0.049505 0.999968 ADPRHL2 54936 __UNKNOWN__ __UNKNOWN__ 1 36556867 36556867 __UNKNOWN__ Silent SNP C C T rs768000 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:36556867C>T ENST00000373178.4 + 2 264 c.234C>T c.(232-234)gaC>gaT p.D78D NM_017825.2 NP_060295.1 Q9NX46 ARHL2_HUMAN ADP-ribosylhydrolase like 2 78 NA mitochondrion (GO:0005739)|nucleus (GO:0005634) metal ion binding (GO:0046872)|poly(ADP-ribose) glycohydrolase activity (GO:0004649) cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|pancreas(1) 8 Myeloproliferative disorder(586;0.0393) ACACAGATGACACAGCCATGG 0.547 NA C||| 369 0.0736821 0.059 0.0605 5008 , , NA 20737 0.2331 NA 0.003 False NA ,,, NA NA NA 2504 0.0112 NA NA NA NA 0 C 250,4156 143.1+/-178.2 8,234,1961 70 56 61 234 5 1 1 dbSNP_86 61 15,8585 11.9+/-42.8 0,15,4285 no coding-synonymous ADPRHL2 NM_017825.2 8,249,6246 TT,TC,CC 0.1744,5.6741,2.0375 78/364 36556867 265,12741 2203 4300 6503 SO:0001819 synonymous_variant AJ427295 CCDS402.1 1p34.3 2008-02-05 ENSG00000116863 ENSG00000116863 54936 21304 protein-coding gene gene with protein product 610624 NA 12070318, 16278211 Standard NM_017825 NM_017825 NA Approved ARH3, FLJ20446 uc001bzt.3 Q9NX46 OTTHUMG00000007628 ENST00000373178.4:c.234C>T chr1.hg19:g.36556867C>T NA Q53G94|Q6IAB8|Q9BY47 hg19 CCDS402.1 0.02 10.633652 TGAxACA COVERED NOVEL ADPRHL2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000020199.1 2 31.301783 KEEP 0 0 0 104 3719 CC 1 1 0 + 12 60 431 0 0 27.01224 285 60 10998 545 ENST00000373178.4 0.040404 1 ADPRHL2 54936 __UNKNOWN__ __UNKNOWN__ 1 36558164 36558164 __UNKNOWN__ Intron SNP C C T rs60590162 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:36558164C>T ENST00000373178.4 + 5 832 NM_017825.2 NP_060295.1 Q9NX46 ARHL2_HUMAN ADP-ribosylhydrolase like 2 NA NA mitochondrion (GO:0005739)|nucleus (GO:0005634) metal ion binding (GO:0046872)|poly(ADP-ribose) glycohydrolase activity (GO:0004649) cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|pancreas(1) 8 Myeloproliferative disorder(586;0.0393) CTCTGTCGTCCTTCAGGGTCG 0.592 NA C||| 369 0.0736821 0.059 0.0605 5008 , , NA 19435 0.2331 NA 0.003 False NA ,,, NA NA NA 2504 0.0112 NA NA NA NA 0 C 250,4156 139.6+/-175.2 7,236,1960 122 132 129 1.6 0 1 dbSNP_129 129 15,8585 11.9+/-42.8 0,15,4285 no intron ADPRHL2 NM_017825.2 7,251,6245 TT,TC,CC 0.1744,5.6741,2.0375 36558164 265,12741 2203 4300 6503 SO:0001627 intron_variant AJ427295 CCDS402.1 1p34.3 2008-02-05 ENSG00000116863 ENSG00000116863 54936 21304 protein-coding gene gene with protein product 610624 NA 12070318, 16278211 Standard NM_017825 NM_017825 NA Approved ARH3, FLJ20446 uc001bzt.3 Q9NX46 OTTHUMG00000007628 ENST00000373178.4:c.802+41C>T chr1.hg19:g.36558164C>T NA Q53G94|Q6IAB8|Q9BY47 hg19 CCDS402.1 0.02 6.422869 GTCxTTC COVERED NOVEL ADPRHL2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000020199.1 1 18.359686 KEEP 0 0 0 61 2198 CC 1 1 0 + 6 60 219 0 0 13.243821 181 60 6910 316 ENST00000373178.4 0.032086 1 ADPRHL2 54936 __UNKNOWN__ __UNKNOWN__ 1 36559398 36559398 __UNKNOWN__ 3'UTR SNP C C T rs2281804 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:36559398C>T ENST00000373178.4 + 0 1533 NM_017825.2 NP_060295.1 Q9NX46 ARHL2_HUMAN ADP-ribosylhydrolase like 2 NA NA mitochondrion (GO:0005739)|nucleus (GO:0005634) metal ion binding (GO:0046872)|poly(ADP-ribose) glycohydrolase activity (GO:0004649) cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|pancreas(1) 8 Myeloproliferative disorder(586;0.0393) GCAGGGTCCCCGAGCAGCAGG 0.542 NA C||| 88 0.0175719 0.0 0.0 5008 , , NA 20377 0.0863 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ427295 CCDS402.1 1p34.3 2008-02-05 ENSG00000116863 ENSG00000116863 54936 21304 protein-coding gene gene with protein product 610624 NA 12070318, 16278211 Standard NM_017825 NM_017825 NA Approved ARH3, FLJ20446 uc001bzt.3 Q9NX46 OTTHUMG00000007628 ENST00000373178.4:c.*411C>T chr1.hg19:g.36559398C>T NA Q53G94|Q6IAB8|Q9BY47 hg19 CCDS402.1 0.02 9.058254 CCCxGAG COVERED NOVEL ADPRHL2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000020199.1 0 29.794261 KEEP 0 0 0 99 3424 CC 1 1 0 + 9 60 347 0 0 22.186506 240 60 8423 443 ENST00000373178.4 0.036145 1 COL8A2 1296 __UNKNOWN__ __UNKNOWN__ 1 36561956 36561956 __UNKNOWN__ 3'UTR SNP C C A rs274750 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:36561956C>A ENST00000397799.1 - 0 3550 COL8A2_ENST00000303143.4_3'UTR P25067 CO8A2_HUMAN collagen, type VIII, alpha 2 NA NA angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|collagen catabolic process (GO:0030574)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337) basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578) extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674) NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) AACTCATTCCCAAGGGACCTG 0.582 NA A||| 1372 0.273962 0.447 0.3271 5008 , , NA 19246 0.4792 NA 0.0119 False NA ,,, NA NA NA 2504 0.0603 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M60832 CCDS403.1, CCDS72756.1 1p34.2-p32.3 2014-02-14 ENSG00000171812 ENSG00000171812 1296 Collagens 2216 protein-coding gene gene with protein product 120252 FECD NA 11689488 Standard NM_005202 XM_005270477 NA Approved PPCD, FECD1, PPCD2 uc001bzv.2 P25067 OTTHUMG00000007665 ENST00000397799.1:c.*1214G>T chr1.hg19:g.36561956C>A NA Q5JV31|Q8TEJ5 hg19 CCDS403.1 0.02 6.21996 TCCxAAG COVERED NOVEL COL8A2-003 KNOWN alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000313674.1 2 12.641222 KEEP 0 0 0 42 1490 CC 1 1 0 - 6 60 219 0 0 13.40347 170 60 6367 262 ENST00000397799.1 0.034091 1 COL8A2 1296 __UNKNOWN__ __UNKNOWN__ 1 36562551 36562551 __UNKNOWN__ 3'UTR SNP A A G rs274752 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:36562551A>G ENST00000397799.1 - 0 2955 COL8A2_ENST00000303143.4_3'UTR P25067 CO8A2_HUMAN collagen, type VIII, alpha 2 NA NA angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|collagen catabolic process (GO:0030574)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337) basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578) extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674) NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) AGTGAAAGGGAGGTTGCCCTT 0.617 NA -||| 1379 0.275359 0.4501 0.3314 5008 , , NA 19327 0.4792 NA 0.0119 False NA ,,, NA NA NA 2504 0.0603 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M60832 CCDS403.1, CCDS72756.1 1p34.2-p32.3 2014-02-14 ENSG00000171812 ENSG00000171812 1296 Collagens 2216 protein-coding gene gene with protein product 120252 FECD NA 11689488 Standard NM_005202 XM_005270477 NA Approved PPCD, FECD1, PPCD2 uc001bzv.2 P25067 OTTHUMG00000007665 ENST00000397799.1:c.*619T>C chr1.hg19:g.36562551A>G NA Q5JV31|Q8TEJ5 hg19 CCDS403.1 0.02 7.978327 GGGxGGT COVERED NOVEL COL8A2-003 KNOWN alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000313674.1 2 12.940017 KEEP 0 0 0 43 1388 AA 1 1 0 - 8 60 281 0 0 17.119933 205 60 7283 303 ENST00000397799.1 0.037559 1 TRAPPC3 27095 __UNKNOWN__ __UNKNOWN__ 1 36614784 36614784 __UNKNOWN__ Intron SNP C C G rs2296267 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:36614784C>G ENST00000373166.3 - 1 133 TRAPPC3_ENST00000373163.1_Intron|TRAPPC3_ENST00000373159.1_Intron|TRAPPC3_ENST00000373162.1_5'UTR NM_001270894.1|NM_014408.4 NP_001257823.1|NP_055223.1 O43617 TPPC3_HUMAN trafficking protein particle complex 3 NA NA ER to Golgi vesicle-mediated transport (GO:0006888) cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|TRAPP complex (GO:0030008) central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1) 4 Myeloproliferative disorder(586;0.0393) CCTCACCTGCCTGGAACGCCC 0.637 NA C||| 267 0.0533147 0.003 0.0533 5008 , , NA 16532 0.2093 NA 0.007 False NA ,,, NA NA NA 2504 0.0082 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF041432 CCDS404.1, CCDS59194.1, CCDS72757.1, CCDS72758.1 1p34.2 2011-10-10 ENSG00000054116 ENSG00000054116 27095 Trafficking protein particle complex 19942 protein-coding gene gene with protein product 610955 NA 8619474 Standard NM_014408 NM_014408 NA Approved BET3 uc031pls.1 O43617 OTTHUMG00000007664 ENST00000373166.3:c.42+153G>C chr1.hg19:g.36614784C>G NA A6NDN0|B2RDN2|D3DPS2 hg19 CCDS404.1 0.02 6.574292 TGCxTGG COVERED NOVEL TRAPPC3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000020384.1 2 27.98972 KEEP 0 0 0 93 3243 CC 1 1 0 - 9 60 283 0 0 16.388236 206 60 7662 355 ENST00000373166.3 0.04186 1 DNALI1 7802 __UNKNOWN__ __UNKNOWN__ 1 38023316 38023316 __UNKNOWN__ Missense_Mutation SNP C C T rs11749 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:38023316C>T ENST00000296218.7 + 2 270 c.260C>T c.(259-261)gCa>gTa p.A87V DNALI1_ENST00000541606.1_5'UTR NM_003462.3 NP_003453.2 O14645 IDLC_HUMAN dynein, axonemal, light intermediate chain 1 65 NA cellular component movement (GO:0006928)|metabolic process (GO:0008152)|single fertilization (GO:0007338) axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|filopodium (GO:0030175) microtubule motor activity (GO:0003777) breast(1)|kidney(1)|large_intestine(2)|ovary(1) 5 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) ACAAAGCAGGCAGAAGAAATC 0.537 NA C||| 1023 0.204273 0.0681 0.2046 5008 , , NA 20615 0.3502 NA 0.2535 False NA ,,, NA NA NA 2504 0.1871 NA NA NA NA 0 C VAL/ALA 427,3979 208.8+/-229.8 19,389,1795 176 170 172 260 5.8 1 1 dbSNP_52 172 2211,6389 376.5+/-338.2 297,1617,2386 yes missense DNALI1 NM_003462.3 64 316,2006,4181 TT,TC,CC 25.7093,9.6913,20.2829 possibly-damaging 87/281 38023316 2638,10368 2203 4300 6503 SO:0001583 missense AF006386 CCDS420.1 1p35.1 2008-07-18 2006-09-04 ENSG00000163879 ENSG00000163879 7802 Axonemal dyneins 14353 protein-coding gene gene with protein product inner dynein arm, homolog of clamydomonas, dJ423B22.5 (axonemal dynein light chain (hp28)) 602135 dynein, axonemal, light intermediate polypeptide 1 NA 9284741 Standard NM_003462 NM_003462 NA Approved P28, hp28, dJ423B22.5 uc001cbj.3 O14645 OTTHUMG00000004222 ENST00000296218.7:c.260C>T chr1.hg19:g.38023316C>T ENSP00000296218:p.Ala87Val NA A8K387|B4DHN6|Q05BL9|Q5HYE2|Q5TGH0|Q7L0I5 hg19 CCDS420.1 0.02 9.662645 AGGxAGA COVERED 522 0.23901098901098902 34 0.06910569105691057 83 0.2292817679558011 216 0.3776223776223776 189 0.24934036939313983 C 22.9 4.346647 0.82022 0.096913 0.257093 ENSG00000163879 ENST00000296218 T 0.42513 0.97 5.76 5.76 0.90799 . 0.313134 0.38663 N 0.001610 T 0.00012 0.0000 N 0.12182 0.205 0.09310 P 1.0 P 0.41420 0.749 P 0.45753 0.492 T 0.47812 -0.9088 9 0.27082 T 0.32 -6.8937 17.4499 0.87589 0.0:1.0:0.0:0.0 rs11749;rs1047072;rs3170935;rs11540746;rs17350512;rs52811198;rs60888941;rs11540746 65 O14645 IDLC_HUMAN V 87 ENSP00000296218:A87V ENSP00000296218:A87V A + 2 0 DNALI1 37795903 1.000000 0.71417 1.000000 0.80357 0.977000 0.68977 3.974000 0.56852 2.725000 0.93324 0.591000 0.81541 GCA NOVEL DNALI1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000012159.1 3 28.463003 KEEP 0 2 64 117 4222 CC 1 1 0 + 9 60 301 0 0 16.947679 285 60 11030 536 ENST00000296218.7 0.030612 1 EPHA10 284656 __UNKNOWN__ __UNKNOWN__ 1 38182656 38182656 __UNKNOWN__ 3'UTR SNP G G C rs76466607 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:38182656G>C ENST00000373048.4 - 0 4414 EPHA10_ENST00000427468.2_Intron|EPHA10_ENST00000540011.1_Intron|EPHA10_ENST00000330210.7_Intron|EPHA10_ENST00000446149.2_Intron NM_001099439.1 NP_001092909.1 Q5JZY3 EPHAA_HUMAN EPH receptor A10 NA NA ephrin receptor signaling pathway (GO:0048013) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887) ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005) NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) AGGGCAGGCTGTGTGTCTTTT 0.587 NA G||| 421 0.0840655 0.0628 0.0865 5008 , , NA 15418 0.244 NA 0.006 False NA ,,, NA NA NA 2504 0.0266 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK090974 CCDS425.1, CCDS41305.1 1p34.3 2013-02-11 ENSG00000183317 ENSG00000183317 284656 EPH receptors, Sterile alpha motif (SAM) domain containing, Fibronectin type III domain containing 19987 protein-coding gene gene with protein product 611123 NA 12477932 Standard NM_173641 NM_001099439 NA Approved FLJ16103, FLJ33655 uc009vvi.3 Q5JZY3 OTTHUMG00000004325 ENST00000373048.4:c.*1388C>G chr1.hg19:g.38182656G>C NA A4FU89|J3KPB5|Q6NW42 hg19 CCDS41305.1 0.02 8.892803 GCTxTGT COVERED NOVEL EPHA10-003 KNOWN not_organism_supported|basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000012497.2 0 8.126032 KEEP 0 0 0 27 941 GG 0.999988 0.999988 0 - 10 60 378 0 0 25.098179 201 60 7403 290 ENST00000373048.4 0.047393 1 EPHA10 284656 __UNKNOWN__ __UNKNOWN__ 1 38226079 38226079 __UNKNOWN__ Intron SNP C C G rs2014461 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:38226079C>G ENST00000373048.4 - 3 850 EPHA10_ENST00000427468.2_Intron|EPHA10_ENST00000319637.6_3'UTR NM_001099439.1 NP_001092909.1 Q5JZY3 EPHAA_HUMAN EPH receptor A10 NA NA ephrin receptor signaling pathway (GO:0048013) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887) ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005) NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) AGCCTGAGAACCCAGCAAAAC 0.488 NA c||| 531 0.10603 0.1452 0.0202 5008 , , NA 19613 0.2847 NA 0.0129 False NA ,,, NA NA NA 2504 0.0256 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK090974 CCDS425.1, CCDS41305.1 1p34.3 2013-02-11 ENSG00000183317 ENSG00000183317 284656 EPH receptors, Sterile alpha motif (SAM) domain containing, Fibronectin type III domain containing 19987 protein-coding gene gene with protein product 611123 NA 12477932 Standard NM_173641 NM_001099439 NA Approved FLJ16103, FLJ33655 uc009vvi.3 Q5JZY3 OTTHUMG00000004325 ENST00000373048.4:c.850+997G>C chr1.hg19:g.38226079C>G NA A4FU89|J3KPB5|Q6NW42 hg19 CCDS41305.1 0.02 5.959841 GAAxCCA COVERED NOVEL EPHA10-003 KNOWN not_organism_supported|basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000012497.2 1 10.533931 KEEP 0 0 0 35 1239 CC 0.999999 0.999999 0 - 6 60 215 0 0 12.903084 177 60 6531 274 ENST00000373048.4 0.032787 1 EPHA10 284656 __UNKNOWN__ __UNKNOWN__ 1 38226976 38226976 __UNKNOWN__ Intron SNP C C T rs57449203 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:38226976C>T ENST00000373048.4 - 3 850 EPHA10_ENST00000427468.2_Intron|EPHA10_ENST00000319637.6_3'UTR NM_001099439.1 NP_001092909.1 Q5JZY3 EPHAA_HUMAN EPH receptor A10 NA NA ephrin receptor signaling pathway (GO:0048013) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887) ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005) NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) TCTCCACCGCCCCCCGACCCC 0.587 NA C||| 818 0.163339 0.3533 0.0375 5008 , , NA 9774 0.2847 NA 0.0129 False NA ,,, NA NA NA 2504 0.0256 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK090974 CCDS425.1, CCDS41305.1 1p34.3 2013-02-11 ENSG00000183317 ENSG00000183317 284656 EPH receptors, Sterile alpha motif (SAM) domain containing, Fibronectin type III domain containing 19987 protein-coding gene gene with protein product 611123 NA 12477932 Standard NM_173641 NM_001099439 NA Approved FLJ16103, FLJ33655 uc009vvi.3 Q5JZY3 OTTHUMG00000004325 ENST00000373048.4:c.850+100G>A chr1.hg19:g.38226976C>T NA A4FU89|J3KPB5|Q6NW42 hg19 CCDS41305.1 0.02 6.45341 CGCxCCC COVERED NOVEL EPHA10-003 KNOWN not_organism_supported|basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000012497.2 2 6.619656 KEEP 0 0 0 22 738 CC 0.999879 0.999879 0 - 9 60 287 1 0 17.366582 185 60 6594 262 ENST00000373048.4 0.046392 1 EPHA10 284656 __UNKNOWN__ __UNKNOWN__ 1 38227086 38227086 __UNKNOWN__ Missense_Mutation SNP A A T rs4653328 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:38227086A>T ENST00000373048.4 - 3 840 c.841T>A c.(841-843)Ttc>Atc p.F281I EPHA10_ENST00000427468.2_Missense_Mutation_p.F281I|EPHA10_ENST00000319637.6_Missense_Mutation_p.F281I NM_001099439.1 NP_001092909.1 Q5JZY3 EPHAA_HUMAN EPH receptor A10 281 NA F -> I (in dbSNP:rs4653328). {ECO:0000269|PubMed:17344846}. ephrin receptor signaling pathway (GO:0048013) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887) ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005) NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CCTTCGCAGAAGTCACCACGC 0.667 NA T||| 1769 0.353235 0.4402 0.3012 5008 , , NA 11536 0.4831 NA 0.2833 False NA ,,, NA NA NA 2504 0.2106 NA NA NA NA 0 T ILE/PHE,ILE/PHE 1706,2604 311,1084,760 59 63 62 841,841 -1.5 0.8 1 dbSNP_111 62 2269,6083 305,1659,2212 yes missense,missense EPHA10 NM_001099439.1,NM_173641.2 21,21 616,2743,2972 TT,TA,AA 27.1671,39.5824,31.3931 benign,benign 281/1009,281/296 38227086 3975,8687 2155 4176 6331 SO:0001583 missense AK090974 CCDS425.1, CCDS41305.1 1p34.3 2013-02-11 ENSG00000183317 ENSG00000183317 284656 EPH receptors, Sterile alpha motif (SAM) domain containing, Fibronectin type III domain containing 19987 protein-coding gene gene with protein product 611123 NA 12477932 Standard NM_173641 NM_001099439 NA Approved FLJ16103, FLJ33655 uc009vvi.3 Q5JZY3 OTTHUMG00000004325 ENST00000373048.4:c.841T>A chr1.hg19:g.38227086A>T ENSP00000362139:p.Phe281Ile NA A4FU89|J3KPB5|Q6NW42 hg19 CCDS41305.1 0.02 11.320496 AGAxGTC COVERED 785 0.35943223443223443 208 0.42276422764227645 97 0.26795580110497236 252 0.4405594405594406 228 0.3007915567282322 T 7.996 0.754258 0.15778 0.395824 0.271671 ENSG00000183317 ENST00000427468;ENST00000373048;ENST00000319637 D;D;T 0.97279 -4.32;-4.32;4.58 4.23 -1.55 0.08558 . 0.934531 0.08818 N 0.889212 T 0.00012 0.0000 N 0.01352 -0.895 0.09310 P 0.999999624185 B;B 0.10296 0.0;0.003 B;B 0.04013 0.0;0.001 T 0.26121 -1.0112 9 0.25751 T 0.34 . 3.9977 0.09566 0.3304:0.2198:0.0:0.4498 rs4653328;rs52814760;rs4653328 281;281 Q5JZY3;Q5JZY3-2 EPHAA_HUMAN;. I 281 ENSP00000397746:F281I;ENSP00000362139:F281I;ENSP00000316395:F281I ENSP00000316395:F281I F - 1 0 EPHA10 37999673 0.003000 0.15002 0.803000 0.32268 0.397000 0.30659 -0.342000 0.07801 -0.327000 0.08551 -1.255000 0.01485 TTC NOVEL EPHA10-003 KNOWN not_organism_supported|basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000012497.2 2 14.439913 KEEP 0 0 0 48 1504 AA 1 1 0 - 14 60 515 0 0 33.91933 272 60 9849 449 ENST00000373048.4 0.048951 1 EPHA10 284656 __UNKNOWN__ __UNKNOWN__ 1 38227268 38227268 __UNKNOWN__ Missense_Mutation SNP G G T rs56276182 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:38227268G>T ENST00000373048.4 - 3 658 c.659C>A c.(658-660)aCg>aAg p.T220K EPHA10_ENST00000427468.2_Missense_Mutation_p.T220K|EPHA10_ENST00000319637.6_Missense_Mutation_p.T220K NM_001099439.1 NP_001092909.1 Q5JZY3 EPHAA_HUMAN EPH receptor A10 220 NA T -> K (in dbSNP:rs56276182). {ECO:0000269|PubMed:17344846}. ephrin receptor signaling pathway (GO:0048013) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887) ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005) NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GGCTGGGAACGTGGCCAGGCC 0.697 NA G||| 533 0.10643 0.146 0.0202 5008 , , NA 13110 0.2847 NA 0.0139 False NA ,,, NA NA NA 2504 0.0256 NA NA NA NA 0 G LYS/THR,LYS/THR 508,3874 24,460,1707 12 15 14 659,659 1.6 0.4 1 dbSNP_129 14 92,8476 0,92,4192 yes missense,missense EPHA10 NM_001099439.1,NM_173641.2 78,78 24,552,5899 TT,TG,GG 1.0738,11.5929,4.6332 benign,benign 220/1009,220/296 38227268 600,12350 2191 4284 6475 SO:0001583 missense AK090974 CCDS425.1, CCDS41305.1 1p34.3 2013-02-11 ENSG00000183317 ENSG00000183317 284656 EPH receptors, Sterile alpha motif (SAM) domain containing, Fibronectin type III domain containing 19987 protein-coding gene gene with protein product 611123 NA 12477932 Standard NM_173641 NM_001099439 NA Approved FLJ16103, FLJ33655 uc009vvi.3 Q5JZY3 OTTHUMG00000004325 ENST00000373048.4:c.659C>A chr1.hg19:g.38227268G>T ENSP00000362139:p.Thr220Lys NA A4FU89|J3KPB5|Q6NW42 hg19 CCDS41305.1 0.02 4.231217 AACxTGG COVERED 224 0.10256410256410256 69 0.1402439024390244 9 0.024861878453038673 132 0.23076923076923078 14 0.018469656992084433 G 12.15 1.851522 0.32699 0.115929 0.010738 ENSG00000183317 ENST00000427468;ENST00000373048;ENST00000319637 T;T;T 0.75050 -0.9;-0.9;4.53 4.52 1.62 0.23740 . 0.555557 0.15101 N 0.280517 T 0.00039 0.0001 N 0.22421 0.69 0.80722 P 0.0 B;P 0.37158 0.016;0.585 B;B 0.39299 0.011;0.296 T 0.03706 -1.1011 9 0.49607 T 0.09 . 3.2541 0.06826 0.3507:0.0:0.3755:0.2738 rs56276182;rs57141134;rs61740754 220;220 Q5JZY3;Q5JZY3-2 EPHAA_HUMAN;. K 220 ENSP00000397746:T220K;ENSP00000362139:T220K;ENSP00000316395:T220K ENSP00000316395:T220K T - 2 0 EPHA10 37999855 0.000000 0.05858 0.394000 0.26270 0.919000 0.55068 0.419000 0.21247 0.246000 0.21394 0.637000 0.83480 ACG NOVEL EPHA10-003 KNOWN not_organism_supported|basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000012497.2 0 6.620087 KEEP 0 0 0 22 719 GG 0.999879 0.999879 0 - 5 60 182 0 0 11.209995 136 60 4557 184 ENST00000373048.4 0.035461 1 EPHA10 284656 __UNKNOWN__ __UNKNOWN__ 1 38230545 38230545 __UNKNOWN__ Intron SNP C C G rs72917912 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:38230545C>G ENST00000373048.4 - 1 106 EPHA10_ENST00000427468.2_Intron|EPHA10_ENST00000319637.6_Intron NM_001099439.1 NP_001092909.1 Q5JZY3 EPHAA_HUMAN EPH receptor A10 NA NA ephrin receptor signaling pathway (GO:0048013) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887) ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005) NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) TCTAGTCTCTCCAATGACTCC 0.552 NA C||| 531 0.10603 0.146 0.0202 5008 , , NA 15594 0.2837 NA 0.0129 False NA ,,, NA NA NA 2504 0.0256 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK090974 CCDS425.1, CCDS41305.1 1p34.3 2013-02-11 ENSG00000183317 ENSG00000183317 284656 EPH receptors, Sterile alpha motif (SAM) domain containing, Fibronectin type III domain containing 19987 protein-coding gene gene with protein product 611123 NA 12477932 Standard NM_173641 NM_001099439 NA Approved FLJ16103, FLJ33655 uc009vvi.3 Q5JZY3 OTTHUMG00000004325 ENST00000373048.4:c.106+87G>C chr1.hg19:g.38230545C>G NA A4FU89|J3KPB5|Q6NW42 hg19 CCDS41305.1 0.02 4.112214 TCTxCAA COVERED NOVEL EPHA10-003 KNOWN not_organism_supported|basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000012497.2 0 7.824991 KEEP 0 0 0 26 909 CC 0.999957 0.999957 0 - 8 60 291 0 0 19.579891 133 60 4967 215 ENST00000373048.4 0.056738 1 MTF1 4520 __UNKNOWN__ __UNKNOWN__ 1 38304255 38304255 __UNKNOWN__ Intron SNP C C G rs3790625 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:38304255C>G ENST00000373036.4 - 4 920 NM_005955.2 NP_005946.2 Q14872 MTF1_HUMAN metal-regulatory transcription factor 1 NA NA positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cadmium ion (GO:0046686)|response to metal ion (GO:0010038)|response to oxidative stress (GO:0006979) nucleus (GO:0005634) core promoter binding (GO:0001047)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713) endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1) 31 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) AGACCCCCAGCTGAAACCTGG 0.423 NA C||| 315 0.0628994 0.0008 0.0058 5008 , , NA 15717 0.2728 NA 0.0119 False NA ,,, NA NA NA 2504 0.0235 NA NA NA NA 0 C 16,4390 22.3+/-47.3 0,16,2187 68 62 64 0.5 0 1 dbSNP_107 64 86,8514 48.5+/-108.0 0,86,4214 no intron MTF1 NM_005955.2 0,102,6401 GG,GC,CC 1.0,0.3631,0.7843 38304255 102,12904 2203 4300 6503 SO:0001627 intron_variant BC014454 CCDS30676.1 1p33 2008-02-05 ENSG00000188786 ENSG00000188786 4520 7428 protein-coding gene gene with protein product 600172 NA 8065932 Standard NM_005955 NM_005955 NA Approved uc001cce.1 Q14872 OTTHUMG00000004439 ENST00000373036.4:c.779+41G>C chr1.hg19:g.38304255C>G NA B2RAK6|Q96CB1 hg19 CCDS30676.1 0.02 9.108681 CAGxTGA COVERED NOVEL MTF1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000012984.2 1 12.615037 KEEP 0 0 0 42 1481 CC 1 1 0 - 16 60 571 0 0 40.175312 194 60 7311 285 ENST00000373036.4 0.07619 1 INPP5B 3633 __UNKNOWN__ __UNKNOWN__ 1 38328154 38328154 __UNKNOWN__ Intron SNP G G T rs137861381|rs28542272|rs75096724 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:38328154G>T ENST00000373024.3 - 24 2714 INPP5B_ENST00000373026.1_Intron|INPP5B_ENST00000373027.1_Intron|INPP5B_ENST00000373023.2_Intron P32019 I5P2_HUMAN inositol polyphosphate-5-phosphatase, 75kDa NA NA in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|regulation of protein processing (GO:0070613)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283) cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886) inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|metal ion binding (GO:0046872)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439) breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1) 15 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) AGGTACTAAagacacacatca 0.373 NA NA NA NA NA NA NA NA NA NA NA 0 57 54 55 NA NA 1 NA 38328154 1036 2137 3173 SO:0001627 intron_variant M74161 CCDS41306.1, CCDS72760.1 1p34 2008-02-05 2002-08-29 ENSG00000204084 ENSG00000204084 3633 3.1.3.56 6077 protein-coding gene gene with protein product 147264 inositol polyphosphate-5-phosphatase, 75kD NA 1718960 Standard NM_005540 NM_005540 NA Approved uc001ccg.1 P32019 OTTHUMG00000004436 ENST00000373024.3:c.2627-52C>A chr1.hg19:g.38328154G>T NA C9J6U5|Q5VSG9|Q5VSH0|Q5VSH1|Q658Q5|Q6P6D4|Q6PD53|Q86YE1 hg19 CCDS41306.1 0.02 3.604999 AAAxACA COVERED NOVEL INPP5B-001 KNOWN non_canonical_conserved|basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000012966.1 2 11.43607 KEEP 0 0 0 38 1282 GG 1 1 0 - 6 60 190 0 0 11.038802 139 60 5153 195 ENST00000373024.3 0.041379 1 AKIRIN1 79647 __UNKNOWN__ __UNKNOWN__ 1 39470364 39470364 __UNKNOWN__ 3'UTR SNP A A G rs4147753 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:39470364A>G ENST00000432648.3 + 0 1374 AKIRIN1_ENST00000446189.2_3'UTR|AKIRIN1_ENST00000372984.4_3'UTR NM_024595.2 NP_078871.1 Q9H9L7 AKIR1_HUMAN akirin 1 NA NA nuclear membrane (GO:0031965)|nucleus (GO:0005634) lung(1)|prostate(1)|skin(1) 3 CTGCGGTCCTATATCTACAGA 0.428 NA A||| 1258 0.251198 0.1891 0.2392 5008 , , NA 19300 0.2986 NA 0.2992 False NA ,,, NA NA NA 2504 0.2454 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK022728 CCDS433.1, CCDS44113.1 1p34.3 2013-10-11 2008-06-23 2008-06-23 ENSG00000174574 ENSG00000174574 79647 25744 protein-coding gene gene with protein product 615164 chromosome 1 open reading frame 108 C1orf108 NA 19200367 Standard NM_024595 NM_024595 NA Approved FLJ12666 uc001ccw.3 Q9H9L7 OTTHUMG00000007496 ENST00000432648.3:c.*637A>G chr1.hg19:g.39470364A>G NA B4DZU6|Q0VDB3|Q53FK8 hg19 CCDS433.1 0.02 5.944773 CCTxTAT COVERED NOVEL AKIRIN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000019687.2 3 15.345137 KEEP 0 0 0 51 1589 AA 1 1 0 + 7 60 261 0 0 16.329642 189 60 6874 292 ENST00000432648.3 0.035714 1 MACF1 23499 __UNKNOWN__ __UNKNOWN__ 1 39723890 39723890 __UNKNOWN__ Intron SNP C C T rs550502134 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:39723890C>T ENST00000372915.3 + 5 630 MACF1_ENST00000564288.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000536367.1_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 NA NA ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587) actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822) breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GCAAAACTTCCTAATTATTTG 0.398 NA C||| 9 0.00179712 0.0 0.0 5008 , , NA 21910 0.0089 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB007934 CCDS435.1 1p32-p31 2013-01-10 ENSG00000127603 ENSG00000127603 23499 EF-hand domain containing 13664 protein-coding gene gene with protein product actin cross-linking factor, 620 kDa actin binding protein, macrophin 1, trabeculin-alpha, actin cross-linking family protein 7 608271 NA 7635207, 10529403 Standard NM_033044 NM_012090 NA Approved KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776 uc031pmc.1 Q9UPN3 OTTHUMG00000007754 ENST00000372915.3:c.543+190C>T chr1.hg19:g.39723890C>T NA B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9 hg19 0.02 1.754525 TTCxTAA COVERED NOVEL MACF1-028 NOVEL not_organism_supported|basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000392096.1 0 4.81548 KEEP 0 0 0 16 562 CC 0.997832 0.997751 0 + 4 60 144 0 0 9.108867 91 60 3432 113 ENST00000372915.3 0.042105 0.999919 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 40081463 40081463 __UNKNOWN__ IGR SNP C C T rs1180321 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:40081463C>T NA NA PABPC4 (39040 upstream) : HEYL (8361 downstream) NA NA NA ggggtttcaccgtgttagcca 0.577 NA C||| 1736 0.346645 0.4637 0.2781 5008 , , NA 13390 0.4236 NA 0.333 False NA ,,, NA NA NA 2504 0.1718 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.40081463C>T NA hg19 0.02 -0.017547 CACxGTG UNCOVERED NOVEL 0 2 2.407762 KEEP 1 0 0 8 273 CC 0 0 0 2 49 78 0 0 8.754121 0 0 0 12 1 0 HPCAL4 51440 __UNKNOWN__ __UNKNOWN__ 1 40150156 40150156 __UNKNOWN__ Silent SNP G G A rs9662128 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:40150156G>A ENST00000372844.3 - 2 511 c.120C>T c.(118-120)agC>agT p.S40S NM_001282396.1|NM_001282397.1|NM_016257.2 NP_001269325.1|NP_001269326.1|NP_057341.1 Q9UM19 HPCL4_HUMAN hippocalcin like 4 40 EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}. NA central nervous system development (GO:0007417)|signal transduction (GO:0007165) intracellular (GO:0005622) calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509) p.S40S(1) breast(1)|central_nervous_system(1)|lung(5)|stomach(1) 8 all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) TGAGGATGCCGCTGGGGCAGT 0.622 NA G||| 1782 0.355831 0.4811 0.2406 5008 , , NA 14737 0.2698 NA 0.3519 False NA ,,, NA NA NA 2504 0.3609 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) G 2018,2388 561.9+/-380.8 482,1054,667 64 53 57 120 1.1 1 1 dbSNP_119 57 2855,5745 447.0+/-361.4 460,1935,1905 no coding-synonymous HPCAL4 NM_016257.2 942,2989,2572 AA,AG,GG 33.1977,45.8012,37.4673 40/192 40150156 4873,8133 2203 4300 6503 SO:0001819 synonymous_variant AB001105 CCDS441.1, CCDS72761.1 1p34.2 2013-01-10 ENSG00000116983 ENSG00000116983 51440 EF-hand domain containing 18212 protein-coding gene gene with protein product NA 10520747 Standard NM_016257 NM_016257 NA Approved HLP4, DKFZp761G122 uc001cdr.3 Q9UM19 OTTHUMG00000009246 ENST00000372844.3:c.120C>T chr1.hg19:g.40150156G>A NA B2R5U2|D3DPU1|Q5TG97|Q8N611 hg19 CCDS441.1 0.02 3.921589 GCCxCTG COVERED NOVEL HPCAL4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000025640.1 2 13.242102 KEEP 0 0 0 44 1515 GG 1 1 0 - 9 60 324 0 0 22.106355 134 60 4706 241 ENST00000372844.3 0.062937 1 TRIT1 54802 __UNKNOWN__ __UNKNOWN__ 1 40306898 40306898 __UNKNOWN__ 3'UTR SNP T T C rs7315 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:40306898T>C ENST00000316891.5 - 0 1936 TRIT1_ENST00000372818.1_3'UTR|TRIT1_ENST00000441669.2_3'UTR NM_017646.4 NP_060116.2 Q9H3H1 MOD5_HUMAN tRNA isopentenyltransferase 1 NA NA tRNA processing (GO:0008033) mitochondrion (GO:0005739) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|tRNA dimethylallyltransferase activity (GO:0052381) breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1) 15 all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) TGTAGAATTCTGAGAACTAGT 0.418 NA C||| 2547 0.508586 0.6157 0.4107 5008 , , NA 17052 0.5933 NA 0.3946 False NA ,,, NA NA NA 2504 0.4632 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF074918 CCDS30681.1 1p34.2 2012-10-05 ENSG00000043514 ENSG00000043514 54802 2.5.1.8 20286 protein-coding gene gene with protein product NA 11111046, 15870694 Standard NM_017646 NM_017646 NA Approved FLJ20061, IPT uc021olz.1 Q9H3H1 OTTHUMG00000009245 ENST00000316891.5:c.*518A>G chr1.hg19:g.40306898T>C NA A1A4X7|Q3T7B5|Q5QPK5|Q5QPK6|Q6IAC9|Q96FJ3|Q96L45|Q9NXT7 hg19 CCDS30681.1 0.02 4.650509 TTCxGAG COVERED NOVEL TRIT1-001 KNOWN non_canonical_U12|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000025627.2 0 17.452188 KEEP 0 0 0 58 1818 TT 1 1 0 - 7 60 219 0 0 12.145165 189 60 7110 298 ENST00000316891.5 0.035714 1 TRIT1 54802 __UNKNOWN__ __UNKNOWN__ 1 40319587 40319587 __UNKNOWN__ Intron SNP A A C rs2294814 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:40319587A>C ENST00000316891.5 - 3 429 TRIT1_ENST00000537223.1_Intron|TRIT1_ENST00000544981.1_3'UTR|TRIT1_ENST00000545233.1_Intron|TRIT1_ENST00000372818.1_Intron|TRIT1_ENST00000537440.1_Intron|TRIT1_ENST00000441669.2_Intron|TRIT1_ENST00000491865.1_Intron|TRIT1_ENST00000541099.1_Intron NM_017646.4 NP_060116.2 Q9H3H1 MOD5_HUMAN tRNA isopentenyltransferase 1 NA NA tRNA processing (GO:0008033) mitochondrion (GO:0005739) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|tRNA dimethylallyltransferase activity (GO:0052381) breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1) 15 all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) CTGAAATTAGACAGCAAGAAA 0.378 NA C||| 3033 0.605631 0.9039 0.4654 5008 , , NA 20031 0.5933 NA 0.4423 False NA ,,, NA NA NA 2504 0.4826 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF074918 CCDS30681.1 1p34.2 2012-10-05 ENSG00000043514 ENSG00000043514 54802 2.5.1.8 20286 protein-coding gene gene with protein product NA 11111046, 15870694 Standard NM_017646 NM_017646 NA Approved FLJ20061, IPT uc021olz.1 Q9H3H1 OTTHUMG00000009245 ENST00000316891.5:c.414+54T>G chr1.hg19:g.40319587A>C NA A1A4X7|Q3T7B5|Q5QPK5|Q5QPK6|Q6IAC9|Q96FJ3|Q96L45|Q9NXT7 hg19 CCDS30681.1 0.02 14.704088 TAGxCAG COVERED NOVEL TRIT1-001 KNOWN non_canonical_U12|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000025627.2 3 13.311427 KEEP 0 2 71 69 2216 AA 1 1 0 - 10 60 376 0 0 22.195541 379 60 13768 587 ENST00000316891.5 0.025707 1 CAP1 10487 __UNKNOWN__ __UNKNOWN__ 1 40538101 40538101 __UNKNOWN__ 3'UTR SNP G G A rs7300 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:40538101G>A ENST00000372797.3 + 0 2885 CAP1_ENST00000372802.1_3'UTR|CAP1_ENST00000340450.3_3'UTR NM_001105530.1|NM_006367.3 NP_001099000|NP_006358 Q13114 TRAF3_HUMAN CAP, adenylate cyclase-associated protein 1 (yeast) NA NA apoptotic process (GO:0006915)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|regulation of apoptotic process (GO:0042981)|regulation of cytokine production (GO:0001817)|regulation of defense response to virus (GO:0050688)|regulation of interferon-beta production (GO:0032648)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|Toll signaling pathway (GO:0008063)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209) CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739) ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 12 Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CTGCAGGCTGGTTTTAGGTCT 0.428 NA G||| 813 0.16234 0.1717 0.0807 5008 , , NA 18151 0.252 NA 0.0845 False NA ,,, NA NA NA 2504 0.1953 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L12168 CCDS41309.1 1p34.3 2010-07-13 ENSG00000131236 ENSG00000131236 10487 20040 protein-coding gene gene with protein product NA 1406678, 8761950 Standard NM_006367 NM_006367 NA Approved CAP uc001cey.4 Q01518 OTTHUMG00000004493 ENST00000372797.3:c.*896G>A chr1.hg19:g.40538101G>A NA B7Z8C4|Q12990|Q13076|Q13947|Q6AZX1|Q9UNL1 hg19 CCDS41309.1 0.02 14.838171 CTGxTTT COVERED NOVEL CAP1-001 KNOWN alternative_5_UTR|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000013109.1 2 14.617636 KEEP 0 2 67 72 2533 GG 1 1 0 + 24 60 861 1 0 58.623438 360 60 13557 560 ENST00000372797.3 0.0625 1 PPT1 5538 __UNKNOWN__ __UNKNOWN__ 1 40555057 40555057 __UNKNOWN__ Intron SNP A A G rs16826876 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:40555057A>G ENST00000433473.3 - 5 1001 PPT1_ENST00000449045.2_Intron NM_000310.3 NP_000301.1 P50897 PPT1_HUMAN palmitoyl-protein thioesterase 1 NA NA adult locomotory behavior (GO:0008344)|associative learning (GO:0008306)|brain development (GO:0007420)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cofactor metabolic process (GO:0051186)|cofactor transport (GO:0051181)|grooming behavior (GO:0007625)|lipid catabolic process (GO:0016042)|lysosomal lumen acidification (GO:0007042)|membrane raft organization (GO:0031579)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|neuron development (GO:0048666)|neurotransmitter secretion (GO:0007269)|pinocytosis (GO:0006907)|positive regulation of pinocytosis (GO:0048549)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein catabolic process (GO:0030163)|protein depalmitoylation (GO:0002084)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|regulation of phospholipase A2 activity (GO:0032429)|regulation of synapse structure and activity (GO:0050803)|sphingolipid catabolic process (GO:0030149)|visual perception (GO:0007601) axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021) palmitoyl-(protein) hydrolase activity (GO:0008474)|palmitoyl-CoA hydrolase activity (GO:0016290) endometrium(5)|large_intestine(1)|lung(3)|ovary(1)|stomach(1) 11 Lung NSC(20;3.43e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) ACAGGTCTGTAATCTTTTCAG 0.413 NA A||| 187 0.0373403 0.0 0.0389 5008 , , NA 19703 0.1558 NA 0.002 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 A , 8,4398 15.5+/-35.6 0,8,2195 95 87 90 , -2.4 0 1 dbSNP_123 90 5,8595 3.7+/-12.6 0,5,4295 no intron,intron PPT1 NM_000310.3,NM_001142604.1 , 0,13,6490 GG,GA,AA 0.0581,0.1816,0.1 , , 40555057 13,12993 2203 4300 6503 SO:0001627 intron_variant U44772 CCDS447.1, CCDS44119.1 1p32 2014-09-17 2008-07-31 ENSG00000131238 ENSG00000131238 5538 3.1.2.22 9325 protein-coding gene gene with protein product ceroid-lipofuscinosis, neuronal 1, infantile 600722 PPT NA 7637805, 8325646 Standard NM_000310 NM_000310 NA Approved CLN1, INCL uc001cfb.2 P50897 OTTHUMG00000004495 ENST00000433473.3:c.536+24T>C chr1.hg19:g.40555057A>G NA B4DY24|Q6FGQ4 hg19 CCDS447.1 0.02 11.766369 TGTxATC COVERED NOVEL PPT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000013126.2 26 27.379843 KEEP 0 0 0 91 2823 AA 1 1 0 - 8 60 311 0 0 19.421354 251 70 9086 459 ENST00000433473.3 0.030888 1 PPT1 5538 __UNKNOWN__ __UNKNOWN__ 1 40556942 40556942 __UNKNOWN__ Intron SNP A A T rs56654546 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:40556942A>T ENST00000433473.3 - 4 898 PPT1_ENST00000449045.2_Intron NM_000310.3 NP_000301.1 P50897 PPT1_HUMAN palmitoyl-protein thioesterase 1 NA NA adult locomotory behavior (GO:0008344)|associative learning (GO:0008306)|brain development (GO:0007420)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cofactor metabolic process (GO:0051186)|cofactor transport (GO:0051181)|grooming behavior (GO:0007625)|lipid catabolic process (GO:0016042)|lysosomal lumen acidification (GO:0007042)|membrane raft organization (GO:0031579)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|neuron development (GO:0048666)|neurotransmitter secretion (GO:0007269)|pinocytosis (GO:0006907)|positive regulation of pinocytosis (GO:0048549)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein catabolic process (GO:0030163)|protein depalmitoylation (GO:0002084)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|regulation of phospholipase A2 activity (GO:0032429)|regulation of synapse structure and activity (GO:0050803)|sphingolipid catabolic process (GO:0030149)|visual perception (GO:0007601) axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021) palmitoyl-(protein) hydrolase activity (GO:0008474)|palmitoyl-CoA hydrolase activity (GO:0016290) endometrium(5)|large_intestine(1)|lung(3)|ovary(1)|stomach(1) 11 Lung NSC(20;3.43e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) ATTTTTTTTTAAATCAGGTGG 0.393 NA A||| 578 0.115415 0.0832 0.1153 5008 , , NA 20699 0.1716 NA 0.0815 False NA ,,, NA NA NA 2504 0.136 NA NA NA NA 0 A , 42,1342 8,26,658 86 81 82 , -5.1 0 1 dbSNP_129 82 118,3064 11,96,1484 no intron,intron PPT1 NM_000310.3,NM_001142604.1 , 19,122,2142 TT,TA,AA 3.7084,3.0347,3.5042 , , 40556942 160,4406 692 1591 2283 SO:0001627 intron_variant U44772 CCDS447.1, CCDS44119.1 1p32 2014-09-17 2008-07-31 ENSG00000131238 ENSG00000131238 5538 3.1.2.22 9325 protein-coding gene gene with protein product ceroid-lipofuscinosis, neuronal 1, infantile 600722 PPT NA 7637805, 8325646 Standard NM_000310 NM_000310 NA Approved CLN1, INCL uc001cfb.2 P50897 OTTHUMG00000004495 ENST00000433473.3:c.433+58T>A chr1.hg19:g.40556942A>T NA B4DY24|Q6FGQ4 hg19 CCDS447.1 0.02 10.911698 TTTxAAT COVERED NOVEL PPT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000013126.2 1 7.456149 KEEP 0 1 29 35 1090 AA 0.999999 0.999999 0 - 14 60 500 0 0 33.172156 240 60 8326 342 ENST00000433473.3 0.055118 1 ZMPSTE24 10269 __UNKNOWN__ __UNKNOWN__ 1 40735817 40735817 __UNKNOWN__ Intron SNP T T G rs16827109 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:40735817T>G ENST00000372759.3 + 5 792 NM_005857.4 NP_005848.2 O75844 FACE1_HUMAN zinc metallopeptidase STE24 NA NA CAAX-box protein processing (GO:0071586)|nuclear envelope organization (GO:0006998)|prenylated protein catabolic process (GO:0030327)|proteolysis (GO:0006508) endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634) metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metalloexopeptidase activity (GO:0008235) endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1) 16 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;6.3e-18) AAATCTTTATTTCGTTTTCTT 0.323 NA T||| 578 0.115415 0.0651 0.121 5008 , , NA 18411 0.1706 NA 0.0746 False NA ,,, NA NA NA 2504 0.1646 NA NA NA NA 0 T 288,4116 156.3+/-189.4 13,262,1927 130 138 135 0.8 0 1 dbSNP_123 135 739,7857 176.8+/-226.5 31,677,3590 no intron ZMPSTE24 NM_005857.3 44,939,5517 GG,GT,TT 8.597,6.5395,7.9 40735817 1027,11973 2202 4298 6500 SO:0001627 intron_variant Y13834 CCDS449.1 1p34 2014-09-17 2012-12-10 ENSG00000084073 ENSG00000084073 10269 3.4.24.84 12877 protein-coding gene gene with protein product Hutchinson-Gilford progeria syndrome, CAAX prenyl protease 1 homolog 606480 zinc metalloproteinase (STE24 homolog, yeast), zinc metallopeptidase (STE24 homolog, yeast), zinc metallopeptidase STE24 homolog (S. cerevisiae) NA 10373325, 9700155, 16671095 Standard NM_005857 NA Approved FACE-1, Ste24p, STE24, HGPS, PRO1 uc001cfg.4 O75844 OTTHUMG00000005762 ENST00000372759.3:c.627+18T>G chr1.hg19:g.40735817T>G NA B3KQI7|D3DPU7|Q8NDZ8|Q9UBQ2 hg19 CCDS449.1 0.02 4.235026 TATxTCG COVERED NOVEL ZMPSTE24-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000015766.1 0 8.125125 KEEP 0 0 0 27 889 TT 0.999988 0.999987 0 + 8 60 297 0 0 20.468162 122 60 4388 176 ENST00000372759.3 0.061538 1 COL9A2 1298 __UNKNOWN__ __UNKNOWN__ 1 40768304 40768304 __UNKNOWN__ Missense_Mutation SNP G G A rs567504204 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:40768304G>A ENST00000372748.3 - 30 1877 c.1781C>T c.(1780-1782)aCg>aTg p.T594M COL9A2_ENST00000466267.1_5'UTR NM_001852.3 NP_001843.1 Q14055 CO9A2_HUMAN collagen, type IX, alpha 2 594 Triple-helical region 2 (COL2). NA axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501) collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578) extracellular matrix structural constituent conferring tensile strength (GO:0030020) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2) 22 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;2.08e-17) CTTGGGCCCCGTGTTGCCGAT 0.682 NA G||| 3 0.000599042 0.0 0.0 5008 , , NA 13338 0.002 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 24 21 22 NA NA 1 NA 40768304 2197 4300 6497 SO:0001583 missense M95610 CCDS450.1 1p33-p32 2013-01-16 ENSG00000049089 ENSG00000049089 1298 Proteoglycans / Extracellular Matrix : Collagen proteoglycans, Collagens 2218 protein-coding gene gene with protein product 120260 EDM2 NA 8454052, 8528240, 1429648 Standard NM_001852 NM_001852 NA Approved MED uc001cfh.1 Q14055 OTTHUMG00000005761 ENST00000372748.3:c.1781C>T chr1.hg19:g.40768304G>A ENSP00000361834:p.Thr594Met NA B2RMP9 hg19 CCDS450.1 0.02 -0.271953 CCCxTGT COVERED . . . . . . . . . . G 19.83 3.899841 0.72754 . . ENSG00000049089 ENST00000372748 D 0.94497 -3.44 5.41 4.5 0.54988 . 0.050424 0.85682 D 0.000000 D 0.94098 0.8108 N 0.24115 0.695 0.53005 D 0.999968 D 0.89917 1.0 D 0.77557 0.99 D 0.93852 0.7146 10 0.46703 T 0.11 . 12.2036 0.54340 0.0821:0.0:0.9179:0.0 . 594 Q14055 CO9A2_HUMAN M 594 ENSP00000361834:T594M ENSP00000361834:T594M T - 2 0 COL9A2 40540891 1.000000 0.71417 0.893000 0.35052 0.862000 0.49288 4.708000 0.61859 1.528000 0.49103 0.555000 0.69702 ACG NOVEL COL9A2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000015764.3 0 4.213225 KEEP 0 0 0 14 475 GG 0.99649 0.714798 0 - 3 60 112 0 0 8.351643 28 60 979 59 ENST00000372748.3 0.096774 0.717315 RIMS3 9783 __UNKNOWN__ __UNKNOWN__ 1 41107706 41107706 __UNKNOWN__ Intron SNP C C T rs11208588 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:41107706C>T ENST00000372684.3 - 3 439 RIMS3_ENST00000372683.1_Intron NM_014747.2 NP_055562.2 Q9UJD0 RIMS3_HUMAN regulating synaptic membrane exocytosis 3 NA NA calcium ion-dependent exocytosis (GO:0017156)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391) cell junction (GO:0030054)|presynaptic active zone (GO:0048786) NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.47e-17) ttcctagctgcgtgaccttgg 0.502 NA C||| 1082 0.216054 0.0492 0.2594 5008 , , NA 20938 0.3194 NA 0.332 False NA ,,, NA NA NA 2504 0.1851 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC003103 CCDS30687.1 1p34.2 2013-09-19 ENSG00000117016 ENSG00000117016 9783 21292 protein-coding gene gene with protein product 611600 NA 12620390, 10748113 Standard NM_014747 NM_014747 NA Approved RIM3, NIM3 uc001cfu.1 Q9UJD0 OTTHUMG00000007453 ENST00000372684.3:c.31-78G>A chr1.hg19:g.41107706C>T NA D3DPV8|Q92511|X5D7U7 hg19 CCDS30687.1 0.02 8.480802 CTGxGTG COVERED NOVEL RIMS3-001 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000019585.1 2 11.421343 KEEP 0 0 0 38 1308 CC 1 1 0 - 8 60 298 0 0 19.000753 194 60 6825 306 ENST00000372684.3 0.039604 1 NFYC 4802 __UNKNOWN__ __UNKNOWN__ 1 41235177 41235177 __UNKNOWN__ Intron SNP G G C rs10889608 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:41235177G>C ENST00000456393.2 + 9 1021 NFYC_ENST00000372652.1_Intron|NFYC_ENST00000427410.2_Intron|NFYC_ENST00000308733.5_Intron|NFYC_ENST00000372653.1_Intron|NFYC_ENST00000425457.2_Intron|NFYC_ENST00000447388.3_Intron|NFYC_ENST00000372654.1_Intron|NFYC_ENST00000372651.1_Intron|NFYC_ENST00000440226.3_Intron Q13952 NFYC_HUMAN nuclear transcription factor Y, gamma NA NA cellular lipid metabolic process (GO:0044255)|positive regulation of transcription, DNA-templated (GO:0045893)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351) CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212) NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2) 15 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.72e-17) TAGGGCAACTGTCCTGTCCTC 0.483 NA G||| 1891 0.377596 0.3775 0.3069 5008 , , NA 21336 0.4484 NA 0.4493 False NA ,,, NA NA NA 2504 0.2812 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U78774 CCDS455.1, CCDS44120.1, CCDS44121.1, CCDS44122.1, CCDS44123.1 1p32 2008-11-11 ENSG00000066136 ENSG00000066136 4802 7806 protein-coding gene gene with protein product 605344 NA 8921405, 9249075 Standard NM_014223 NM_014223 NA Approved CBF-C, NF-YC uc009vwd.3 Q13952 OTTHUMG00000007729 ENST00000456393.2:c.888+90G>C chr1.hg19:g.41235177G>C NA B4DUS6|B4DW63|D3DPV9|F8VWM3|Q59GY4|Q5T6K8|Q5T6K9|Q5T6L1|Q5TZR6|Q92869|Q9HBX1|Q9NXB5|Q9UM67|Q9UML0|Q9UMT7 hg19 CCDS44121.1 0.02 4.573243 ACTxTCC COVERED NOVEL NFYC-017 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000386296.1 0 4.213815 KEEP 0 0 0 14 498 GG 0.995343 0.995343 0 + 7 60 247 0 0 16.162563 130 60 4834 175 ENST00000456393.2 0.051095 1 SCMH1 22955 __UNKNOWN__ __UNKNOWN__ 1 41493784 41493784 __UNKNOWN__ 3'UTR SNP C C G rs41301074 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:41493784C>G ENST00000326197.7 - 0 2364 SCMH1_ENST00000372597.1_3'UTR|SCMH1_ENST00000372595.1_3'UTR|SCMH1_ENST00000397171.2_3'UTR|SCMH1_ENST00000361191.5_3'UTR|SCMH1_ENST00000456518.2_3'UTR|SCMH1_ENST00000372596.1_3'UTR|SCMH1_ENST00000337495.5_3'UTR|SCMH1_ENST00000402904.2_3'UTR|SCMH1_ENST00000472037.1_Intron|SCMH1_ENST00000361705.3_3'UTR|SCMH1_ENST00000397174.2_3'UTR sex comb on midleg homolog 1 (Drosophila) NA NA breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1) 15 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162) Myeloproliferative disorder(586;0.0393) CACTGAGGTGCCTGGGGTGGG 0.592 NA C||| 314 0.0626997 0.003 0.1931 5008 , , NA 15551 0.1518 NA 0.0109 False NA ,,, NA NA NA 2504 0.0123 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF149045 CCDS461.1, CCDS30688.1, CCDS53301.1, CCDS53302.1, CCDS53303.1, CCDS53304.1 1p34 2013-01-10 ENSG00000010803 ENSG00000010803 22955 Sterile alpha motif (SAM) domain containing 19003 protein-coding gene gene with protein product NA 10524249 Standard NM_012236 NA Approved Scml3 uc001cgs.3 Q96GD3 OTTHUMG00000005720 ENST00000326197.7:c.*82G>C chr1.hg19:g.41493784C>G NA hg19 CCDS30688.1 0.02 11.770319 GTGxCTG COVERED NOVEL SCMH1-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000015656.1 2 12.639841 KEEP 0 0 0 42 1473 CC 1 1 0 - 13 60 465 0 0 30.33544 246 60 8622 365 ENST00000326197.7 0.050193 1 WDR65 0 __UNKNOWN__ __UNKNOWN__ 1 43652222 43652222 __UNKNOWN__ Intron SNP C C T rs1976285 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:43652222C>T ENST00000372492.4 + 6 1293 WDR65_ENST00000528956.1_Intron NM_001195831.2 NP_001182760.2 Q96MR6 WDR65_HUMAN NA NA NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) gcggagcttgcagtgagctga 0.507 NA C||| 1281 0.255791 0.3661 0.2594 5008 , , NA 13549 0.3185 NA 0.0666 False NA ,,, NA NA NA 2504 0.2342 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000372492.4:c.970-156C>T chr1.hg19:g.43652222C>T NA A6NKQ3|Q17RI9|Q5TAI0 hg19 0.02 -0.298251 TTGxAGT COVERED NOVEL WDR65-002 NOVEL not_organism_supported|basic|appris_principal|exp_conf protein_coding NA protein_coding OTTHUMT00000384325.1 0 5.115869 KEEP 0 0 0 17 572 CC 0.999366 0.780565 0 + 3 60 104 0 0 7.426102 31 60 1124 53 ENST00000372492.4 0.088235 0.78106 MPL 4352 __UNKNOWN__ __UNKNOWN__ 1 43805240 43805240 __UNKNOWN__ Splice_Site SNP A A G rs16830693 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:43805240A>G ENST00000372470.3 + 4 732 c.690A>G c.(688-690)gaA>gaG p.E230E MPL_ENST00000413998.2_Splice_Site_p.E230E NM_005373.2 NP_005364.1 P40238 TPOR_HUMAN MPL proto-oncogene, thrombopoietin receptor 230 Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}. NA blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|platelet activation (GO:0030168)|regulation of chemokine production (GO:0032642) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) cytokine receptor activity (GO:0004896)|transmembrane signaling receptor activity (GO:0004888) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 567 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) Eltrombopag(DB06210)|Romiplostim(DB05332) CAAGTAGAGAAGTATGCTGAC 0.542 NA Mis MPD MPD congenital amegakaryocytic thrombocytopenia A||| 296 0.0591054 0.1415 0.0187 5008 , , NA 20474 0.0188 NA 0.0189 False NA ,,, NA NA NA 2504 0.0593 NA NA NA NSCLC(52;534 1204 10016 41452 44427) yes Dom yes Familial essential thrombocythemia 1 p34 4352 myeloproliferative leukemia virus oncogene, thrombopoietin receptor yes L 0 A 426,3980 201.1+/-224.2 15,396,1792 69 69 69 690 3.3 1 1 dbSNP_123 69 281,8319 102.3+/-163.5 8,265,4027 yes coding-synonymous-near-splice MPL NM_005373.2 23,661,5819 GG,GA,AA 3.2674,9.6686,5.436 230/636 43805240 707,12299 2203 4300 6503 SO:0001630 splice_region_variant M90102 CCDS483.1 1p34 2014-09-17 2014-06-26 ENSG00000117400 ENSG00000117400 4352 CD molecules, Fibronectin type III domain containing 7217 protein-coding gene gene with protein product 159530 myeloproliferative leukemia virus oncogene NA 1608974 Standard NM_005373 NM_005373 NA Approved CD110, TPOR uc001ciw.3 P40238 OTTHUMG00000007429 ENST00000372470.3:c.690+1A>G chr1.hg19:g.43805240A>G NA Q5JUZ0 hg19 CCDS483.1 0.02 13.258711 AGAxGTA COVERED NOVEL MPL-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000019522.1 1 11.735696 KEEP 0 0 0 39 1239 AA 1 1 0 Silent + 10 60 373 0 0 22.660003 317 60 11735 442 ENST00000372470.3 0.030581 1 MED8 112950 __UNKNOWN__ __UNKNOWN__ 1 43849917 43849917 __UNKNOWN__ 3'UTR SNP A A G rs12140829 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:43849917A>G ENST00000372457.4 - 0 1646 MED8_ENST00000290663.6_3'UTR NM_001001653.2|NM_201542.3 NP_001001653.1|NP_963836.2 Q96G25 MED8_HUMAN mediator complex subunit 8 NA NA gene expression (GO:0010467)|protein ubiquitination (GO:0016567)|transcription initiation from RNA polymerase II promoter (GO:0006367) mediator complex (GO:0016592)|nucleoplasm (GO:0005654) RNA polymerase II transcription cofactor activity (GO:0001104) endometrium(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1) 9 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) CTCCCTCCAAAATAAGAAACA 0.483 NA A||| 519 0.103634 0.2943 0.0403 5008 , , NA 20225 0.0188 NA 0.0258 False NA ,,, NA NA NA 2504 0.0583 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF521562, BC010543 CCDS486.2, CCDS487.2, CCDS60108.1 1p34.1 2008-02-05 2007-07-30 ENSG00000159479 ENSG00000159479 112950 19971 protein-coding gene gene with protein product 607956 mediator of RNA polymerase II transcription, subunit 8 homolog (S. cerevisiae) NA 12149480, 9671713 Standard NM_052877 NM_052877 NA Approved MGC17544, MGC19641, ARC32 uc001cje.2 Q96G25 OTTHUMG00000007421 ENST00000372457.4:c.*796T>C chr1.hg19:g.43849917A>G NA A9IZ91|A9IZ92|Q5JUY8|Q96FQ4 hg19 CCDS487.2 0.02 6.912489 CAAxATA COVERED NOVEL MED8-007 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000318959.1 2 6.917992 KEEP 0 0 0 23 694 AA 0.999892 0.999892 0 - 6 60 224 1 0 14.275697 147 60 5221 194 ENST00000372457.4 0.039216 1 SZT2 23334 __UNKNOWN__ __UNKNOWN__ 1 43916393 43916393 __UNKNOWN__ 3'UTR SNP G G A rs41270367 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:43916393G>A ENST00000562955.1 + 0 10370 SZT2_ENST00000372442.1_3'UTR NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) NA NA central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668) extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777) NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 GGTCAACCCCGAGGACCCCTT 0.637 NA G||| 247 0.0493211 0.1074 0.0144 5008 , , NA 18584 0.0188 NA 0.0189 False NA ,,, NA NA NA 2504 0.0583 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB007936 CCDS30694.1, CCDS30694.2 1p34.2 2012-11-19 2011-06-10 2011-06-10 ENSG00000198198 ENSG00000198198 23334 29040 protein-coding gene gene with protein product seizure threshold 2 homolog A (mouse), seizure threshold 2 homolog B (mouse) 615463 chromosome 1 open reading frame 84, KIAA0467 C1orf84, KIAA0467 NA 9455484 Standard NM_015284 NM_015284 NA Approved FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A uc001cjk.3 Q5T011 OTTHUMG00000007423 ENST00000562955.1:c.*242G>A chr1.hg19:g.43916393G>A NA A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8 hg19 CCDS30694.2 0.02 8.03557 CCCxAGG COVERED NOVEL SZT2-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000019517.3 5 24.076308 KEEP 0 0 0 80 2721 GG 1 1 0 + 8 60 285 0 0 17.245168 222 60 8059 395 ENST00000562955.1 0.034783 1 SZT2 23334 __UNKNOWN__ __UNKNOWN__ 1 43917601 43917601 __UNKNOWN__ 3'UTR SNP C C T rs111686948 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:43917601C>T ENST00000562955.1 + 0 11578 HYI_ENST00000372432.1_Intron|HYI_ENST00000372425.4_Intron|HYI_ENST00000583037.1_Intron|SZT2_ENST00000372442.1_3'UTR|HYI_ENST00000372426.1_Intron|HYI_ENST00000486909.1_Intron|HYI_ENST00000372434.1_Intron NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) NA NA central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668) extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777) NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 GGGCTGGGGTCGTACCCTGCT 0.602 NA C||| 82 0.0163738 0.025 0.0043 5008 , , NA 17861 0.0188 NA 0.0 False NA ,,, NA NA NA 2504 0.0276 NA NA NA NA 0 C ,, 97,4309 78.3+/-116.7 1,95,2107 92 97 95 ,, 3.8 0.1 1 dbSNP_132 95 1,8599 1.2+/-3.3 0,1,4299 no intron,utr-3,intron SZT2,HYI NM_001190880.2,NM_015284.3,NM_031207.5 ,, 1,96,6406 TT,TC,CC 0.0116,2.2015,0.7535 ,, ,, 43917601 98,12908 2203 4300 6503 SO:0001624 3_prime_UTR_variant AB007936 CCDS30694.1, CCDS30694.2 1p34.2 2012-11-19 2011-06-10 2011-06-10 ENSG00000198198 ENSG00000198198 23334 29040 protein-coding gene gene with protein product seizure threshold 2 homolog A (mouse), seizure threshold 2 homolog B (mouse) 615463 chromosome 1 open reading frame 84, KIAA0467 C1orf84, KIAA0467 NA 9455484 Standard NM_015284 NM_015284 NA Approved FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A uc001cjk.3 Q5T011 OTTHUMG00000007423 ENST00000562955.1:c.*1450C>T chr1.hg19:g.43917601C>T NA A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8 hg19 CCDS30694.2 0.02 20.160478 GGTxGTA COVERED NOVEL SZT2-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000019517.3 5 27.659273 KEEP 0 1 8 95 3084 CC 1 1 0 + 19 60 664 0 0 39.628345 531 60 17945 737 ENST00000562955.1 0.034545 1 ATP6V0B 533 __UNKNOWN__ __UNKNOWN__ 1 44443459 44443459 __UNKNOWN__ Intron SNP G G A rs2428953 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:44443459G>A ENST00000472174.2 + 8 984 ATP6V0B_ENST00000498664.1_Intron|ATP6V0B_ENST00000471859.2_Intron|ATP6V0B_ENST00000236067.4_Intron|ATP6V0B_ENST00000532642.1_3'UTR NM_004047.3 NP_004038.1 Q99437 VATO_HUMAN ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b NA NA ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085) endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|vacuole (GO:0005773) hydrogen ion transmembrane transporter activity (GO:0015078)|transporter activity (GO:0005215) breast(2)|kidney(1)|large_intestine(3)|lung(3) 9 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) ACTTCTCTCCGTCTGTCCCAC 0.488 NA g||| 1098 0.219249 0.4009 0.2032 5008 , , NA 23736 0.0942 NA 0.1173 False NA ,,, NA NA NA 2504 0.2188 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC000423 CCDS505.1, CCDS41315.1, CCDS72772.1 1p32.3 2010-04-21 2006-01-20 2002-05-10 ENSG00000117410 ENSG00000117410 533 ATPases / V-type 861 protein-coding gene gene with protein product 603717 ATPase, H+ transporting, lysosomal (vacuolar proton pump) 21kD, ATPase, H+ transporting, lysosomal 21kDa, V0 subunit c'' ATP6F NA 9653649 Standard NM_004047 XM_005270944 NA Approved VMA16, HATPL uc001cld.3 Q99437 OTTHUMG00000008298 ENST00000472174.2:c.592-194G>A chr1.hg19:g.44443459G>A NA D3DPY5|Q6IB32 hg19 CCDS505.1 0.02 15.002076 TCCxTCT COVERED NOVEL ATP6V0B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000022854.2 3 16.851044 KEEP 0 0 0 56 1818 GG 1 1 0 + 11 60 411 0 0 25.058634 344 60 11311 420 ENST00000472174.2 0.030986 1 C1orf228 339541 __UNKNOWN__ __UNKNOWN__ 1 45155226 45155226 __UNKNOWN__ Intron SNP G G A rs16832188 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:45155226G>A ENST00000458657.2 + 3 285 C1orf228_ENST00000444751.1_Intron|C1orf228_ENST00000535358.1_Intron Q6PIY5 CA228_HUMAN chromosome 1 open reading frame 228 NA NA central_nervous_system(1) 1 TATATTTTGCGCATAACTACA 0.423 NA G||| 281 0.0561102 0.0567 0.1153 5008 , , NA 19966 0.0734 NA 0.0139 False NA ,,, NA NA NA 2504 0.0389 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL122004, AY254217, BC026115 CCDS53311.1 1p34.1 2011-02-22 2009-03-17 2009-03-17 ENSG00000198520 ENSG00000198520 339541 34345 protein-coding gene gene with protein product non-protein coding RNA 82 NCRNA00082 NA 12477932 Standard NM_001145636 NM_001145636 NA Approved MGC33556, p40 uc001cmf.2 Q6PIY5 OTTHUMG00000007834 ENST00000458657.2:c.-22-122G>A chr1.hg19:g.45155226G>A NA A1KXE5 hg19 CCDS53311.1 0.02 6.430002 TGCxCAT COVERED NOVEL C1orf228-013 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000023125.2 1 5.116172 KEEP 0 0 0 17 560 GG 0.999366 0.999366 0 + 8 60 294 0 0 19.113051 167 60 5261 194 ENST00000458657.2 0.045714 1 KIF2C 11004 __UNKNOWN__ __UNKNOWN__ 1 45224998 45224998 __UNKNOWN__ Missense_Mutation SNP A A C rs4342887 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:45224998A>C ENST00000372224.4 + 14 1458 c.1345A>C c.(1345-1347)Atc>Ctc p.I449L KIF2C_ENST00000372222.3_Missense_Mutation_p.I336L|KIF2C_ENST00000372218.4_Missense_Mutation_p.I408L|KIF2C_ENST00000372217.1_Missense_Mutation_p.I395L|RP11-269F19.2_ENST00000428791.1_RNA|RP11-269F19.2_ENST00000440985.1_RNA NM_006845.3 NP_006836.2 Q99661 KIF2C_HUMAN kinesin family member 2C 449 Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}. NA I -> L (in dbSNP:rs4342887). {ECO:0000269|PubMed:12383881, ECO:0000269|PubMed:9434124, ECO:0000269|Ref.5}. antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983) chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|microtubule motor activity (GO:0003777)|microtubule plus-end binding (GO:0051010) breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1) 34 Acute lymphoblastic leukemia(166;0.155) CATCAAGATGATCGACATGGG 0.547 NA A||| 1017 0.203075 0.1808 0.2507 5008 , , NA 21901 0.2857 NA 0.1382 False NA ,,, NA NA NA 2504 0.181 NA NA NA NA 0 A LEU/ILE 841,3565 332.0+/-302.3 82,677,1444 111 89 97 1345 4.7 1 1 dbSNP_111 97 1449,7151 276.9+/-292.6 128,1193,2979 yes missense KIF2C NM_006845.3 5 210,1870,4423 CC,CA,AA 16.8488,19.0876,17.6073 benign 449/726 45224998 2290,10716 2203 4300 6503 SO:0001583 missense U63743 CCDS512.1, CCDS72774.1 1p34.1 2014-01-21 2003-01-13 2003-01-17 ENSG00000142945 ENSG00000142945 11004 Kinesins 6393 protein-coding gene gene with protein product 604538 kinesin-like 6 (mitotic centromere-associated kinesin) KNSL6 NA 9434124 Standard NM_006845 NM_006845 NA Approved MCAK, CT139 uc001cmg.4 Q99661 OTTHUMG00000008416 ENST00000372224.4:c.1345A>C chr1.hg19:g.45224998A>C ENSP00000361298:p.Ile449Leu NA B3ITR9|Q5JR88|Q6ICU1|Q96C18|Q96HB8|Q9BWV8 hg19 CCDS512.1 0.02 7.559318 ATGxTCG COVERED 426 0.19505494505494506 92 0.18699186991869918 73 0.20165745856353592 151 0.263986013986014 110 0.14511873350923482 A 18.34 3.603032 0.66445 0.190876 0.168488 ENSG00000142945 ENST00000372224;ENST00000372218;ENST00000372222;ENST00000372217 T;T;T;T 0.71103 -0.54;-0.54;-0.54;-0.54 5.87 4.72 0.59763 Kinesin, motor domain (4); 0.179339 0.49916 N 0.000140 T 0.00012 0.0000 N 0.13352 0.335 0.09310 P 0.999999790191 B;B;B 0.21520 0.002;0.019;0.057 B;B;B 0.37015 0.155;0.044;0.239 T 0.15809 -1.0424 9 0.66056 D 0.02 . 13.045 0.58920 0.8655:0.1345:0.0:0.0 rs4342887;rs59548070;rs4342887 408;395;449 B7Z6Q6;Q99661-2;Q99661 .;.;KIF2C_HUMAN L 449;408;336;395 ENSP00000361298:I449L;ENSP00000361292:I408L;ENSP00000361296:I336L;ENSP00000361291:I395L ENSP00000361291:I395L I + 1 0 KIF2C 44997585 1.000000 0.71417 1.000000 0.80357 0.668000 0.39293 5.178000 0.65037 1.017000 0.39495 0.533000 0.62120 ATC NOVEL KIF2C-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000023180.1 1 2.474235 KEEP 0 2 71 33 989 AA 0.999999 0.999999 0 + 8 60 320 0 0 22.027625 152 60 5516 238 ENST00000372224.4 0.05 1 RPS8 6202 __UNKNOWN__ __UNKNOWN__ 1 45241113 45241113 __UNKNOWN__ 5'UTR SNP T T C rs11211031 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:45241113T>C ENST00000396651.3 + 0 5 RP11-269F19.2_ENST00000428791.1_RNA P62241 RS8_HUMAN ribosomal protein S8 NA NA cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083) cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529) poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735) central_nervous_system(2)|large_intestine(1)|lung(4)|ovary(2)|prostate(1) 10 Acute lymphoblastic leukemia(166;0.155) GAGACCCTCCTAGGCTCGTGG 0.677 NA C||| 2317 0.46266 0.5968 0.4625 5008 , , NA 15697 0.4911 NA 0.3628 False NA ,,, NA NA NA 2504 0.3548 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant BC070875 CCDS513.1 1p34.1-p32 2011-04-05 ENSG00000142937 ENSG00000142937 6202 S ribosomal proteins 10441 protein-coding gene gene with protein product 600357 NA 8432552 Standard NM_001012 NM_001012 NA Approved S8 uc001cmi.3 P62241 OTTHUMG00000008494 ENST00000396651.3:c.-156T>C chr1.hg19:g.45241113T>C NA P09058|Q6IRL7 hg19 CCDS513.1 0.02 4.552466 TCCxAGG COVERED NOVEL RPS8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000023439.1 0 18.577363 KEEP 0 1 35 74 2182 TT 1 1 0 + 5 60 185 0 0 11.720603 123 60 4415 220 ENST00000396651.3 0.039062 1 PLK3 1263 __UNKNOWN__ __UNKNOWN__ 1 45266832 45266832 __UNKNOWN__ Intron SNP A A G rs17881698 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:45266832A>G ENST00000372201.4 + 3 674 PLK3_ENST00000465443.1_Intron NM_004073.2 NP_004064.2 Q9H4B4 PLK3_HUMAN polo-like kinase 3 NA NA apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cytoplasmic microtubule organization (GO:0031122)|endomitotic cell cycle (GO:0007113)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi disassembly (GO:0090166)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G1/S transition checkpoint (GO:0044819)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell division (GO:0051302)|regulation of cytokinesis (GO:0032465)|response to osmotic stress (GO:0006970)|response to radiation (GO:0009314)|response to reactive oxygen species (GO:0000302) centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi stack (GO:0005795)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634) ATP binding (GO:0005524)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674) endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(166;0.155) AAGGTGAAAGATGGTGATTCC 0.478 NA a||| 961 0.191893 0.1445 0.245 5008 , , NA 16112 0.2857 NA 0.1402 False NA ,,, NA NA NA 2504 0.1748 NA NA NA NA 0 A 632,3774 270.1+/-269.4 47,538,1618 63 58 60 -0.7 0 1 dbSNP_124 60 1449,7151 273.5+/-290.7 131,1187,2982 no intron PLK3 NM_004073.2 178,1725,4600 GG,GA,AA 16.8488,14.3441,16.0003 45266832 2081,10925 2203 4300 6503 SO:0001627 intron_variant AJ293866 CCDS515.1 1p34.1 2013-01-18 2010-06-24 2004-01-28 ENSG00000173846 ENSG00000173846 1263 2154 protein-coding gene gene with protein product 602913 cytokine-inducible kinase, polo-like kinase 3 (Drosophila) CNK NA 8702627 Standard NM_004073 NM_004073 NA Approved FNK, PRK uc001cmn.3 Q9H4B4 OTTHUMG00000008491 ENST00000372201.4:c.435+8A>G chr1.hg19:g.45266832A>G NA Q15767|Q5JR99|Q96CV1 hg19 CCDS515.1 0.02 2.071713 AAGxTGG COVERED NOVEL PLK3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000023429.1 4 19.67566 KEEP 0 1 39 79 2364 AA 1 0.999895 0 + 7 60 262 0 0 18.756222 86 60 3051 208 ENST00000372201.4 0.075269 0.999895 TCTEX1D4 343521 __UNKNOWN__ __UNKNOWN__ 1 45271912 45271912 __UNKNOWN__ Silent SNP G G A rs17886118 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:45271912G>A ENST00000339355.2 - 1 435 c.429C>T c.(427-429)gaC>gaT p.D143D TCTEX1D4_ENST00000372200.1_Silent_p.D143D Q5JR98 TC1D4_HUMAN Tctex1 domain containing 4 143 NA acrosomal vesicle (GO:0001669)|axoneme (GO:0005930)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|sperm flagellum (GO:0036126) protein phosphatase 1 binding (GO:0008157) pancreas(1) 1 Acute lymphoblastic leukemia(166;0.155) GCGCGGCCTCGTCGCTGGAGT 0.731 NA G||| 882 0.176118 0.0855 0.2421 5008 , , NA 10287 0.2847 NA 0.1412 False NA ,,, NA NA NA 2504 0.1759 NA NA NA NA 0 G 233,2847 5,223,1312 2 3 3 429 -11.1 0 1 dbSNP_124 3 925,5617 49,827,2395 no coding-synonymous TCTEX1D4 NM_001013632.2 54,1050,3707 AA,AG,GG 14.1394,7.5649,12.0349 143/222 45271912 1158,8464 1540 3271 4811 SO:0001819 synonymous_variant BC092499 CCDS30699.1 1p34.1 2007-12-17 ENSG00000188396 343521 32315 protein-coding gene gene with protein product novel Tctex-1 family domain-containing protein 611713 NA 12477932 Standard NM_001013632 XM_006710614 NA Approved uc001cmp.3 Q5JR98 ENST00000339355.2:c.429C>T chr1.hg19:g.45271912G>A NA hg19 CCDS30699.1 0.02 6.488852 CTCxTCG COVERED NOVEL TCTEX1D4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000023733.1 4 44.808186 KEEP 0 2 60 170 5849 GG 1 1 0 - 11 60 387 0 0 25.690557 180 60 6326 446 ENST00000339355.2 0.057592 1 PTCH2 8643 __UNKNOWN__ __UNKNOWN__ 1 45291908 45291908 __UNKNOWN__ Intron SNP G G A rs11211040 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:45291908G>A ENST00000372192.3 - 19 3245 PTCH2_ENST00000447098.2_Intron NM_003738.4 NP_003729.3 Q9Y6C5 PTC2_HUMAN patched 2 NA NA epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165) integral component of membrane (GO:0016021) hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 50 Acute lymphoblastic leukemia(166;0.155) CCTCCCCGGGGTGCCCGTGCT 0.537 NA Basal Cell Nevus syndrome G||| 980 0.195687 0.1558 0.245 5008 , , NA 19970 0.2887 NA 0.1412 False NA ,,, NA NA NA 2504 0.1748 NA NA NA NA 0 G , 662,3744 271.6+/-270.3 51,560,1592 59 49 52 , 4.7 0.4 1 dbSNP_120 52 1443,7157 270.5+/-289.0 131,1181,2988 no intron,intron PTCH2 NM_001166292.1,NM_003738.4 , 182,1741,4580 AA,AG,GG 16.7791,15.025,16.1848 , , 45291908 2105,10901 2203 4300 6503 SO:0001627 intron_variant Familial Cancer Database Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS AF091501 CCDS516.1, CCDS53312.1 1p34.1 2010-06-24 2010-06-24 ENSG00000117425 ENSG00000117425 8643 9586 protein-coding gene gene with protein product 603673 patched (Drosophila) homolog 2, patched homolog 2 (Drosophila) NA 9811851, 9931336 Standard NM_003738 NM_003738 NA Approved uc010olf.2 Q9Y6C5 OTTHUMG00000008490 ENST00000372192.3:c.3114+13C>T chr1.hg19:g.45291908G>A NA O95341|O95856|Q53Z57|Q5QP87|Q6UX14 hg19 CCDS516.1 0.02 11.210633 GGGxTGC COVERED NOVEL PTCH2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000023428.4 3 22.556583 KEEP 0 0 0 75 2583 GG 1 1 0 - 12 60 441 0 0 28.839494 242 60 8738 393 ENST00000372192.3 0.047244 1 PTCH2 8643 __UNKNOWN__ __UNKNOWN__ 1 45293518 45293518 __UNKNOWN__ Silent SNP A A G rs7525308 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:45293518A>G ENST00000372192.3 - 14 2185 c.2055T>C c.(2053-2055)gcT>gcC p.A685A PTCH2_ENST00000447098.2_Silent_p.A685A NM_003738.4 NP_003729.3 Q9Y6C5 PTC2_HUMAN patched 2 685 NA epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165) integral component of membrane (GO:0016021) hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 50 Acute lymphoblastic leukemia(166;0.155) GTCTTACCTTAGCATGTGACT 0.617 NA Basal Cell Nevus syndrome G||| 2231 0.445487 0.6021 0.4409 5008 , , NA 21976 0.4911 NA 0.3191 False NA ,,, NA NA NA 2504 0.32 NA NA NA NA 0 G , 2576,1830 533.1+/-373.6 765,1046,392 57 55 56 2055,2055 2.6 0.8 1 dbSNP_116 56 2944,5656 667.7+/-402.5 524,1896,1880 no coding-synonymous,coding-synonymous PTCH2 NM_001166292.1,NM_003738.4 , 1289,2942,2272 GG,GA,AA 34.2326,41.5343,42.4419 , 685/1147,685/1204 45293518 5520,7486 2203 4300 6503 SO:0001819 synonymous_variant Familial Cancer Database Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS AF091501 CCDS516.1, CCDS53312.1 1p34.1 2010-06-24 2010-06-24 ENSG00000117425 ENSG00000117425 8643 9586 protein-coding gene gene with protein product 603673 patched (Drosophila) homolog 2, patched homolog 2 (Drosophila) NA 9811851, 9931336 Standard NM_003738 NM_003738 NA Approved uc010olf.2 Q9Y6C5 OTTHUMG00000008490 ENST00000372192.3:c.2055T>C chr1.hg19:g.45293518A>G NA O95341|O95856|Q53Z57|Q5QP87|Q6UX14 hg19 CCDS516.1 0.02 8.845845 CTTxGCA COVERED NOVEL PTCH2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000023428.4 0 14.797047 KEEP 0 2 38 63 1949 AA 1 1 0 - 9 60 335 0 0 21.133685 231 60 8191 349 ENST00000372192.3 0.0375 1 PTCH2 8643 __UNKNOWN__ __UNKNOWN__ 1 45293752 45293752 __UNKNOWN__ Silent SNP T T C rs2295997 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:45293752T>C ENST00000372192.3 - 14 1951 c.1821A>G c.(1819-1821)gaA>gaG p.E607E PTCH2_ENST00000447098.2_Silent_p.E607E NM_003738.4 NP_003729.3 Q9Y6C5 PTC2_HUMAN patched 2 607 NA epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165) integral component of membrane (GO:0016021) hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 50 Acute lymphoblastic leukemia(166;0.155) GGCTGCTGGCTTCACAGTGGG 0.622 NA Basal Cell Nevus syndrome T||| 1065 0.21266 0.2156 0.2522 5008 , , NA 19432 0.2897 NA 0.1412 False NA ,,, NA NA NA 2504 0.1748 NA NA NA NA 0 T , 887,3519 340.5+/-306.2 82,723,1398 83 90 88 1821,1821 2.4 1 1 dbSNP_100 88 1447,7153 276.5+/-292.4 131,1185,2984 no coding-synonymous,coding-synonymous PTCH2 NM_001166292.1,NM_003738.4 , 213,1908,4382 CC,CT,TT 16.8256,20.1316,17.9456 , 607/1147,607/1204 45293752 2334,10672 2203 4300 6503 SO:0001819 synonymous_variant Familial Cancer Database Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS AF091501 CCDS516.1, CCDS53312.1 1p34.1 2010-06-24 2010-06-24 ENSG00000117425 ENSG00000117425 8643 9586 protein-coding gene gene with protein product 603673 patched (Drosophila) homolog 2, patched homolog 2 (Drosophila) NA 9811851, 9931336 Standard NM_003738 NM_003738 NA Approved uc010olf.2 Q9Y6C5 OTTHUMG00000008490 ENST00000372192.3:c.1821A>G chr1.hg19:g.45293752T>C NA O95341|O95856|Q53Z57|Q5QP87|Q6UX14 hg19 CCDS516.1 0.02 13.28705 GGCxTCA COVERED NOVEL PTCH2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000023428.4 1 21.098489 KEEP 0 1 31 81 2585 TT 1 1 0 - 9 60 338 0 1 20.533692 292 60 10586 469 ENST00000372192.3 0.0299 1 PTCH2 8643 __UNKNOWN__ __UNKNOWN__ 1 45297753 45297753 __UNKNOWN__ Intron SNP A A G rs2295999 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:45297753A>G ENST00000372192.3 - 4 586 PTCH2_ENST00000447098.2_Intron NM_003738.4 NP_003729.3 Q9Y6C5 PTC2_HUMAN patched 2 NA NA epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165) integral component of membrane (GO:0016021) hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 50 Acute lymphoblastic leukemia(166;0.155) CAGCAGAAGAAGGGGATTCCC 0.517 NA Basal Cell Nevus syndrome G||| 1408 0.28115 0.4652 0.2695 5008 , , NA 18555 0.2887 NA 0.1421 False NA ,,, NA NA NA 2504 0.1759 NA NA NA NA 0 G , 1956,2450 609.0+/-391.3 485,986,732 58 61 60 , -1.7 0 1 dbSNP_100 60 1445,7155 746.1+/-407.3 132,1181,2987 no intron,intron PTCH2 NM_001166292.1,NM_003738.4 , 617,2167,3719 GG,GA,AA 16.8023,44.394,26.1495 , , 45297753 3401,9605 2203 4300 6503 SO:0001627 intron_variant Familial Cancer Database Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS AF091501 CCDS516.1, CCDS53312.1 1p34.1 2010-06-24 2010-06-24 ENSG00000117425 ENSG00000117425 8643 9586 protein-coding gene gene with protein product 603673 patched (Drosophila) homolog 2, patched homolog 2 (Drosophila) NA 9811851, 9931336 Standard NM_003738 NM_003738 NA Approved uc010olf.2 Q9Y6C5 OTTHUMG00000008490 ENST00000372192.3:c.456-37T>C chr1.hg19:g.45297753A>G NA O95341|O95856|Q53Z57|Q5QP87|Q6UX14 hg19 CCDS516.1 0.02 8.786088 AGAxGGG COVERED NOVEL PTCH2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000023428.4 0 16.849597 KEEP 0 0 0 56 1760 AA 1 1 0 - 8 60 276 0 0 16.498616 216 60 7977 341 ENST00000372192.3 0.035714 1 EIF2B3 8891 __UNKNOWN__ __UNKNOWN__ 1 45362992 45362992 __UNKNOWN__ Intron SNP T T C rs263978 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:45362992T>C ENST00000360403.2 - 6 783 EIF2B3_ENST00000372183.3_Intron NM_001261418.1|NM_020365.4 NP_001248347.1|NP_065098.1 Q9NR50 EI2BG_HUMAN eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa NA NA cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|positive regulation of GTPase activity (GO:0043547)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413) cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851) guanyl-nucleotide exchange factor activity (GO:0005085)|nucleotidyltransferase activity (GO:0016779)|translation initiation factor activity (GO:0003743) endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1) 17 Acute lymphoblastic leukemia(166;0.155) GCTTGTTAAGTACTGTAGGTT 0.343 NA C||| 3962 0.791134 0.9705 0.7565 5008 , , NA 17929 0.9742 NA 0.5239 False NA ,,, NA NA NA 2504 0.6595 NA NA NA Colon(26;357 658 2581 11857 12657) NA 0 C , 3923,483 223.3+/-239.8 1751,421,31 67 65 66 , -5.1 0 1 dbSNP_79 66 4675,3925 536.3+/-383.0 1292,2091,917 no intron,intron EIF2B3 NM_001166588.1,NM_020365.3 , 3043,2512,948 CC,CT,TT 45.6395,10.9623,33.892 , , 45362992 8598,4408 2203 4300 6503 SO:0001627 intron_variant AF257077 CCDS517.1, CCDS53313.1, CCDS72775.1 1p34.1 2008-02-05 2002-08-29 ENSG00000070785 ENSG00000070785 8891 3259 protein-coding gene gene with protein product 606273 eukaryotic translation initiation factor 2B, subunit 3 (gamma, 58kD) NA 10900014 Standard NM_020365 NM_020365 NA Approved EIF2Bgamma, EIF-2B uc001cmt.3 Q9NR50 OTTHUMG00000008585 ENST00000360403.2:c.656+34A>G chr1.hg19:g.45362992T>C NA B2RBH8|D3DPZ2|Q5QP89|Q5QP90|Q8NDB5|Q8WV57|Q9H850 hg19 CCDS517.1 0.02 6.302507 AAGxACT COVERED NOVEL EIF2B3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000023724.1 1 12.465635 KEEP 0 1 36 54 1570 TT 1 1 0 - 7 60 240 0 0 14.602581 170 60 5821 274 ENST00000360403.2 0.039548 1 EIF2B3 8891 __UNKNOWN__ __UNKNOWN__ 1 45444038 45444038 __UNKNOWN__ Silent SNP G G A rs11556200 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:45444038G>A ENST00000360403.2 - 3 369 c.243C>T c.(241-243)gaC>gaT p.D81D EIF2B3_ENST00000480675.1_5'UTR|EIF2B3_ENST00000372183.3_Silent_p.D81D NM_001261418.1|NM_020365.4 NP_001248347.1|NP_065098.1 Q9NR50 EI2BG_HUMAN eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa 81 NA cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|positive regulation of GTPase activity (GO:0043547)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413) cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851) guanyl-nucleotide exchange factor activity (GO:0005085)|nucleotidyltransferase activity (GO:0016779)|translation initiation factor activity (GO:0003743) endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1) 17 Acute lymphoblastic leukemia(166;0.155) CCATGTCAGCGTCATCAGGAA 0.363 NA A||| 1485 0.296526 0.4032 0.4265 5008 , , NA 17307 0.2758 NA 0.1998 False NA ,,, NA NA NA 2504 0.181 NA NA NA Colon(26;357 658 2581 11857 12657) NA 0 A , 1705,2701 653.0+/-399.5 345,1015,843 215 210 211 243,243 -4.9 0.8 1 dbSNP_120 211 1990,6610 723.2+/-406.4 234,1522,2544 no coding-synonymous,coding-synonymous EIF2B3 NM_001166588.1,NM_020365.3 , 579,2537,3387 AA,AG,GG 23.1395,38.6972,28.41 , 81/413,81/453 45444038 3695,9311 2203 4300 6503 SO:0001819 synonymous_variant AF257077 CCDS517.1, CCDS53313.1, CCDS72775.1 1p34.1 2008-02-05 2002-08-29 ENSG00000070785 ENSG00000070785 8891 3259 protein-coding gene gene with protein product 606273 eukaryotic translation initiation factor 2B, subunit 3 (gamma, 58kD) NA 10900014 Standard NM_020365 NM_020365 NA Approved EIF2Bgamma, EIF-2B uc001cmt.3 Q9NR50 OTTHUMG00000008585 ENST00000360403.2:c.243C>T chr1.hg19:g.45444038G>A NA B2RBH8|D3DPZ2|Q5QP89|Q5QP90|Q8NDB5|Q8WV57|Q9H850 hg19 CCDS517.1 0.02 21.618062 AGCxTCA COVERED NOVEL EIF2B3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000023724.1 3 18.966202 KEEP 0 3 97 97 3351 GG 1 1 0 - 17 60 635 0 0 39.11003 503 60 17895 786 ENST00000360403.2 0.032692 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 45457681 45457681 __UNKNOWN__ IGR SNP G G A rs12126314 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:45457681G>A NA NA EIF2B3 (5399 upstream) : HECTD3 (10530 downstream) NA NA NA CTTTGTTCGCGGAACAGGTAA 0.423 NA G||| 1617 0.322883 0.5015 0.4323 5008 , , NA 22456 0.2748 NA 0.1988 False NA ,,, NA NA NA 2504 0.181 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.45457681G>A NA hg19 0.02 10.800816 CGCxGAA COVERED NOVEL 0 3 15.347107 KEEP 0 0 0 51 1683 GG 1 1 0 11 60 408 0 0 25.946645 267 60 9028 372 0.039568 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 45457708 45457708 __UNKNOWN__ IGR SNP G G A rs12126318 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:45457708G>A NA NA EIF2B3 (5426 upstream) : HECTD3 (10503 downstream) NA NA NA GAGAAGCACAGTATCACCAAC 0.423 NA A||| 1621 0.323682 0.5045 0.4323 5008 , , NA 22396 0.2748 NA 0.1988 False NA ,,, NA NA NA 2504 0.181 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.45457708G>A NA hg19 0.02 10.184311 ACAxTAT COVERED NOVEL 0 1 16.854794 KEEP 0 0 0 56 2027 GG 1 1 0 11 60 386 0 0 23.719696 269 60 10251 393 0.039286 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 45457873 45457873 __UNKNOWN__ IGR SNP G G A rs401665 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:45457873G>A NA NA EIF2B3 (5591 upstream) : HECTD3 (10338 downstream) NA NA NA CTTGGCATGGGTGGATGAATG 0.468 NA A||| 2401 0.479433 0.6452 0.5793 5008 , , NA 19240 0.4395 NA 0.3728 False NA ,,, NA NA NA 2504 0.3354 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.45457873G>A NA hg19 0.02 6.862998 TGGxTGG COVERED NOVEL 0 1 6.019443 KEEP 0 0 0 20 706 GG 0.999863 0.999863 0 9 60 339 0 0 22.886541 162 60 5994 220 0.052632 1 HECTD3 79654 __UNKNOWN__ __UNKNOWN__ 1 45474008 45474008 __UNKNOWN__ Intron SNP T T C rs7541207 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:45474008T>C ENST00000372172.4 - 9 1310 HECTD3_ENST00000372168.3_Silent_p.L18L NM_024602.5 NP_078878.3 Q5T447 HECD3_HUMAN HECT domain containing E3 ubiquitin protein ligase 3 NA NA proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787) cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471) ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842) p.L18L(1) breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1) 28 Acute lymphoblastic leukemia(166;0.155) CATGGGTAGATAGACTGCAGC 0.517 NA T||| 1235 0.246605 0.1558 0.4092 5008 , , NA 20854 0.2897 NA 0.2127 False NA ,,, NA NA NA 2504 0.2444 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) T 620,3334 51,518,1408 89 92 91 -1.7 0 1 dbSNP_116 91 2014,6306 251,1512,2397 no intron HECTD3 NM_024602.5 302,2030,3805 CC,CT,TT 24.2067,15.6803,21.46 45474008 2634,9640 1977 4160 6137 SO:0001627 intron_variant BC019105 CCDS41318.1 1p34.1 2012-02-23 2012-02-23 ENSG00000126107 ENSG00000126107 79654 26117 protein-coding gene gene with protein product HECT domain containing 3 NA 12477932 Standard NM_024602 NM_024602 NA Approved FLJ21156 uc009vxk.3 Q5T447 OTTHUMG00000008587 ENST00000372172.4:c.1239-15A>G chr1.hg19:g.45474008T>C NA B3KPV7|B3KRH4|Q5T448|Q9H783 hg19 CCDS41318.1 0.02 11.92078 AGAxAGA COVERED NOVEL HECTD3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000023734.1 2 19.226913 KEEP 0 0 0 64 1880 TT 1 1 0 - 12 60 446 0 0 28.722571 275 60 9803 408 ENST00000372172.4 0.041812 1 HECTD3 79654 __UNKNOWN__ __UNKNOWN__ 1 45476489 45476489 __UNKNOWN__ Intron SNP A A G rs3806405 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:45476489A>G ENST00000372172.4 - 1 441 NM_024602.5 NP_078878.3 Q5T447 HECD3_HUMAN HECT domain containing E3 ubiquitin protein ligase 3 NA NA proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787) cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471) ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842) breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1) 28 Acute lymphoblastic leukemia(166;0.155) TACAGGGGAGAAAAGGCAAAC 0.632 NA G||| 1613 0.322085 0.4304 0.4294 5008 , , NA 14665 0.2897 NA 0.2137 False NA ,,, NA NA NA 2504 0.2444 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC019105 CCDS41318.1 1p34.1 2012-02-23 2012-02-23 ENSG00000126107 ENSG00000126107 79654 26117 protein-coding gene gene with protein product HECT domain containing 3 NA 12477932 Standard NM_024602 NM_024602 NA Approved FLJ21156 uc009vxk.3 Q5T447 OTTHUMG00000008587 ENST00000372172.4:c.369+71T>C chr1.hg19:g.45476489A>G NA B3KPV7|B3KRH4|Q5T448|Q9H783 hg19 CCDS41318.1 0.02 4.562283 GAGxAAA COVERED NOVEL HECTD3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000023734.1 0 11.866516 KEEP 0 1 36 52 1617 AA 1 1 0 - 7 60 262 0 0 17.782126 120 60 4225 224 ENST00000372172.4 0.055118 1 HECTD3 79654 __UNKNOWN__ __UNKNOWN__ 1 45476663 45476663 __UNKNOWN__ Silent SNP G G A rs2298005 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:45476663G>A ENST00000372172.4 - 1 338 c.267C>T c.(265-267)ctC>ctT p.L89L NM_024602.5 NP_078878.3 Q5T447 HECD3_HUMAN HECT domain containing E3 ubiquitin protein ligase 3 89 NA proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787) cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471) ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842) breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1) 28 Acute lymphoblastic leukemia(166;0.155) GGGCGGCGCGGAGGGGCCCGG 0.756 NA G||| 1258 0.251198 0.1732 0.4107 5008 , , NA 10868 0.2897 NA 0.2127 False NA ,,, NA NA NA 2504 0.2434 NA NA NA NA 0 G 363,2167 35,293,937 6 6 6 267 -0.7 1 1 dbSNP_100 6 1149,4825 112,925,1950 no coding-synonymous HECTD3 NM_024602.5 147,1218,2887 AA,AG,GG 19.2333,14.3478,17.7799 89/862 45476663 1512,6992 1265 2987 4252 SO:0001819 synonymous_variant BC019105 CCDS41318.1 1p34.1 2012-02-23 2012-02-23 ENSG00000126107 ENSG00000126107 79654 26117 protein-coding gene gene with protein product HECT domain containing 3 NA 12477932 Standard NM_024602 NM_024602 NA Approved FLJ21156 uc009vxk.3 Q5T447 OTTHUMG00000008587 ENST00000372172.4:c.267C>T chr1.hg19:g.45476663G>A NA B3KPV7|B3KRH4|Q5T448|Q9H783 hg19 CCDS41318.1 0.02 3.657389 GCGxAGG COVERED NOVEL HECTD3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000023734.1 0 19.56165 KEEP 0 0 0 65 2196 GG 1 0.999984 0 - 5 60 169 0 0 10.562802 100 60 3494 183 ENST00000372172.4 0.047619 0.999984 CCDC163P 126661 __UNKNOWN__ __UNKNOWN__ 1 45962137 45962137 __UNKNOWN__ Intron SNP T T C rs41302744 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:45962137T>C ENST00000432082.1 - 4 695 CCDC163P_ENST00000490551.3_Intron|CCDC163P_ENST00000488405.2_Missense_Mutation_p.T141A|CCDC163P_ENST00000502793.2_Intron coiled-coil domain containing 163, pseudogene NA NA cervix(1)|endometrium(1) 2 CAGGAGAGGGTATCCTGGCCT 0.507 NA T||| 827 0.165136 0.0008 0.1931 5008 , , NA 21031 0.4663 NA 0.0268 False NA ,,, NA NA NA 2504 0.1994 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC047421 1p34.1 2010-06-14 2009-12-17 2009-12-17 ENSG00000236624 ENSG00000236624 126661 27003 pseudogene pseudogene chromosome 1 open reading frame 231 C1orf231 NA 18672041 Standard NM_001102601 NR_033296 NA Approved LOC126661 uc001cnw.3 OTTHUMG00000007741 ENST00000432082.1:c.330+90A>G chr1.hg19:g.45962137T>C NA hg19 0.02 18.313999 GGGxATC COVERED 325 0.1488095238095238 1 0.0020325203252032522 66 0.18232044198895028 237 0.4143356643356643 21 0.027704485488126648 T 16.99 3.275025 0.59649 . . ENSG00000236624 ENST00000488405 . . . 5.09 -1.95 0.07548 . . . . . T 0.00012 0.0000 . . . 0.80722 P 0.0 . . . . . . T 0.41448 -0.9508 4 0.87932 D 0 . 4.7882 0.13236 0.1647:0.4366:0.0:0.3987 rs41302744 . . . A 141 . ENSP00000432622:T141A T - 1 0 CCDC163P 45734724 0.001000 0.12720 0.024000 0.17045 0.206000 0.24218 0.012000 0.13287 -0.184000 0.10567 0.443000 0.29094 ACC NOVEL CCDC163P-006 PUTATIVE basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000349850.4 3 22.859609 KEEP 0 0 0 76 2256 TT 1 1 0 - 23 60 813 0 0 53.391723 408 60 13440 601 ENST00000432082.1 0.053364 1 NSUN4 387338 __UNKNOWN__ __UNKNOWN__ 1 46810530 46810530 __UNKNOWN__ Missense_Mutation SNP A A G rs3737744 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:46810530A>G ENST00000474844.1 + 2 801 c.151A>G c.(151-153)Act>Gct p.T51A NSUN4_ENST00000498008.1_3'UTR|NSUN4_ENST00000536062.1_Missense_Mutation_p.T2A|NSUN4_ENST00000537428.1_Missense_Mutation_p.T2A NM_199044.3 NP_950245.2 Q96CB9 NSUN4_HUMAN NOP2/Sun domain family, member 4 51 NA T -> A (in dbSNP:rs3737744). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}. rRNA methylation (GO:0031167) mitochondrial large ribosomal subunit (GO:0005762) methyltransferase activity (GO:0008168)|rRNA binding (GO:0019843) endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1) 8 Acute lymphoblastic leukemia(166;0.155) TTTTGACATGACTTACAGTGT 0.483 NA A||| 1525 0.304513 0.1415 0.3559 5008 , , NA 23393 0.5169 NA 0.3419 False NA ,,, NA NA NA 2504 0.2311 NA NA NA NA 0 A ALA/THR 801,3605 321.5+/-297.2 77,647,1479 177 173 175 151 5.4 1 1 dbSNP_107 175 2849,5751 449.1+/-362.0 466,1917,1917 yes missense NSUN4 NM_199044.2 58 543,2564,3396 GG,GA,AA 33.1279,18.1798,28.064 benign 51/385 46810530 3650,9356 2203 4300 6503 SO:0001583 missense AK021577 CCDS534.1, CCDS57996.1 1p34 2012-02-24 2009-11-23 ENSG00000117481 ENSG00000117481 387338 NOP2/Sun domain containing 31802 protein-coding gene gene with protein product sperm head and tail associated protein 615394 NOL1/NOP2/Sun domain family 4, NOL1/NOP2/Sun domain family, member 4 NA Standard NM_199044 NM_199044 NA Approved MGC22960, SHTAP uc001cpr.2 Q96CB9 OTTHUMG00000007808 ENST00000474844.1:c.151A>G chr1.hg19:g.46810530A>G ENSP00000419740:p.Thr51Ala NA A8K6S6|B3KQ50|B4DHA4|Q5TDF7|Q96AN8|Q9HAJ8 hg19 CCDS534.1 0.02 13.580143 ATGxCTT COVERED 775 0.35485347985347987 81 0.16463414634146342 143 0.39502762430939226 282 0.493006993006993 269 0.3548812664907652 A 16.01 3.001459 0.54254 0.181798 0.331279 ENSG00000117481 ENST00000474844;ENST00000536062;ENST00000537428 T;T;T 0.14516 2.54;2.5;2.5 5.45 5.45 0.79879 . 0.207467 0.49916 D 0.000140 T 0.00012 0.0000 L 0.46157 1.445 0.24446 P 0.99450097 B 0.11235 0.004 B 0.10450 0.005 T 0.47381 -0.9122 9 0.17369 T 0.5 -15.6344 15.1862 0.73002 1.0:0.0:0.0:0.0 rs3737744;rs3895370;rs17845416;rs17858282;rs52835213;rs61120032;rs3737744 51 Q96CB9 NSUN4_HUMAN A 51;2;2 ENSP00000419740:T51A;ENSP00000438912:T2A;ENSP00000437758:T2A ENSP00000419740:T51A T + 1 0 NSUN4 46583117 1.000000 0.71417 1.000000 0.80357 0.986000 0.74619 5.480000 0.66820 2.080000 0.62538 0.460000 0.39030 ACT NOVEL NSUN4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000021427.1 1 19.49325 KEEP 0 1 38 78 2459 AA 1 1 0 + 10 60 377 0 0 23.413483 292 60 10300 457 ENST00000474844.1 0.033113 1 FAAH 2166 __UNKNOWN__ __UNKNOWN__ 1 46871986 46871986 __UNKNOWN__ Silent SNP T T C rs324419 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:46871986T>C ENST00000243167.8 + 7 981 c.897T>C c.(895-897)tgT>tgC p.C299C FAAH_ENST00000493735.1_3'UTR NM_001441.2 NP_001432.2 O00519 FAAH1_HUMAN fatty acid amide hydrolase 299 NA fatty acid catabolic process (GO:0009062) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|organelle membrane (GO:0031090) acylglycerol lipase activity (GO:0047372)|carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|fatty acid amide hydrolase activity (GO:0017064) breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1) 22 Acute lymphoblastic leukemia(166;0.155) Propofol(DB00818)|Thiopental(DB00599) CCCTGCTGTGTGAGGACATGT 0.647 NA OREG0013458 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) C||| 4429 0.884385 0.8585 0.9265 5008 , , NA 16676 0.995 NA 0.8519 False NA ,,, NA NA NA 2504 0.8088 NA NA NA NA 0 C 3750,656 276.9+/-273.4 1597,556,50 85 81 82 897 0.2 1 1 dbSNP_79 82 7198,1402 271.1+/-289.3 3009,1180,111 no coding-synonymous FAAH NM_001441.2 4606,1736,161 CC,CT,TT 16.3023,14.8888,15.8235 299/580 46871986 10948,2058 2203 4300 6503 SO:0001819 synonymous_variant U82535 CCDS535.1 1p35-p34 2008-02-05 ENSG00000117480 ENSG00000117480 2166 3553 protein-coding gene gene with protein product 602935 NA 9122178 Standard NM_001441 NM_001441 NA Approved FAAH-1 uc001cpu.2 O00519 OTTHUMG00000007811 ENST00000243167.8:c.897T>C chr1.hg19:g.46871986T>C 942 D3DQ19|Q52M86|Q5TDF8 hg19 CCDS535.1 0.02 10.86941 GTGxGAG COVERED NOVEL FAAH-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000021443.1 1 21.993206 KEEP 0 1 37 86 2573 TT 1 1 0 + 10 60 325 0 0 19.285512 249 60 8899 457 ENST00000243167.8 0.03861 1 DMBX1 127343 __UNKNOWN__ __UNKNOWN__ 1 46978497 46978497 __UNKNOWN__ 3'UTR SNP C C T rs2209172 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:46978497C>T ENST00000360032.3 + 0 1479 DMBX1_ENST00000371956.4_3'UTR NM_172225.1 NP_757379.1 diencephalon/mesencephalon homeobox 1 NA NA endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Acute lymphoblastic leukemia(166;0.155) ATCCTTCTGCCCCCTAGTAAG 0.522 NA C||| 1039 0.207468 0.1672 0.121 5008 , , NA 17028 0.244 NA 0.2187 False NA ,,, NA NA NA 2504 0.274 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB037699 CCDS536.1 1p34.1 2011-06-20 2004-03-29 2004-03-30 ENSG00000197587 ENSG00000197587 127343 Homeoboxes / PRD class 19026 protein-coding gene gene with protein product 607410 orthodenticle homolog 3 (Drosophila) OTX3 NA Standard NM_147192 NA Approved PAXB uc001cpx.3 Q8NFW5 OTTHUMG00000007982 ENST00000360032.3:c.*331C>T chr1.hg19:g.46978497C>T NA hg19 CCDS536.1 0.02 9.188508 TGCxCCC COVERED NOVEL DMBX1-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000021895.1 1 6.621109 KEEP 0 0 0 22 751 CC 0.999879 0.999879 0 + 7 60 254 0 0 15.558187 194 70 6959 291 ENST00000360032.3 0.034826 1 EFCAB14 9813 __UNKNOWN__ __UNKNOWN__ 1 47184539 47184539 __UNKNOWN__ 5'UTR SNP C C T rs12568734 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:47184539C>T ENST00000371933.3 - 0 197 EFCAB14_ENST00000544071.1_5'UTR NM_014774.2 NP_055589.1 O75071 EFC14_HUMAN EF-hand calcium binding domain 14 NA NA calcium ion binding (GO:0005509) NA GCCTTGGGGACACGGTGCCGC 0.721 NA C||| 832 0.166134 0.1687 0.0418 5008 , , NA 12537 0.4226 NA 0.008 False NA ,,, NA NA NA 2504 0.1493 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AB007963 CCDS30706.1 1p33 2013-01-10 2012-11-29 2012-11-29 ENSG00000159658 ENSG00000159658 9813 EF-hand domain containing 29051 protein-coding gene gene with protein product KIAA0494 KIAA0494 NA 9455484 Standard NM_014774 NM_014774 NA Approved uc001cqk.4 O75071 OTTHUMG00000007992 ENST00000371933.3:c.-780G>A chr1.hg19:g.47184539C>T NA D3DQ23|Q5SXB8 hg19 CCDS30706.1 0.02 3.850452 GGAxACG COVERED NOVEL EFCAB14-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000021931.1 1 24.37516 KEEP 0 0 0 81 2783 CC 1 0.999998 0 - 7 60 222 0 0 14.044972 110 60 3961 241 ENST00000371933.3 0.059829 0.999998 CYP4A22 284541 __UNKNOWN__ __UNKNOWN__ 1 47607281 47607281 __UNKNOWN__ Missense_Mutation SNP C C T rs12564525 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:47607281C>T ENST00000371891.3 + 3 407 c.376C>T c.(376-378)Cgg>Tgg p.R126W CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000294337.3_Missense_Mutation_p.R126W|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000371890.3_Missense_Mutation_p.R126W NM_001010969.2 NP_001010969.2 Q5TCH4 CP4AM_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 22 126 NA R -> W (in allele CYP4A22*8, allele CYP4A22*9, allele CYP4A22*11, allele CYP4A22*12, allele CYP4A22*13, allele CYP4A22*14 and allele CYP4A22*15; dbSNP:rs12564525). {ECO:0000269|PubMed:15611369, ECO:0000269|PubMed:16806293}. endoplasmic reticulum (GO:0005783)|membrane (GO:0016020) alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506) breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 CCTGGCTCCACGGATTGGTAT 0.453 NA c||| 1859 0.371206 0.2254 0.2867 5008 , , NA 23221 0.6141 NA 0.2058 False NA ,,, NA NA NA 2504 0.5481 NA NA NA Pancreas(88;1240 1470 2099 14214 37557) NA 0 T TRP/ARG 1099,3307 720.2+/-409.0 129,841,1233 132 122 125 376 1.7 0.7 1 dbSNP_120 125 1802,6798 732.5+/-406.8 197,1408,2695 yes missense CYP4A22 NM_001010969.2 101 326,2249,3928 TT,TC,CC 20.9535,24.9433,22.3051 benign 126/520 47607281 2901,10105 2203 4300 6503 SO:0001583 missense CCDS30707.1 1p33 2007-12-14 ENSG00000162365 ENSG00000162365 284541 Cytochrome P450s 20575 protein-coding gene gene with protein product 615341 NA Standard XM_208213 XM_005270768 NA Approved uc001cqv.1 Q5TCH4 OTTHUMG00000007845 ENST00000371891.3:c.376C>T chr1.hg19:g.47607281C>T ENSP00000360958:p.Arg126Trp NA Q5TCH3|Q6JXK7|Q6JXK8|Q9NRM4 hg19 CCDS30707.1 0.02 17.990771 CCAxGGA COVERED 682 0.31227106227106227 103 0.20934959349593496 90 0.24861878453038674 342 0.5979020979020979 147 0.19393139841688653 t 0.721 -0.783423 0.02907 0.249433 0.209535 ENSG00000162365 ENST00000371890;ENST00000371891;ENST00000294337 T;T;T 0.67865 -0.27;-0.29;-0.29 1.66 1.66 0.24008 . 0.000000 0.85682 N 0.000000 T 0.00012 0.0000 N 0.00003 -3.465 0.51482 P 7.900000000005125E-5 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.48514 -0.9029 9 0.02654 T 1 . 6.8608 0.24066 0.0:0.126:0.0:0.874 rs12564525;rs57365220 126;126 Q5TCH5;Q5TCH4 .;CP4AM_HUMAN W 126 ENSP00000360957:R126W;ENSP00000360958:R126W;ENSP00000294337:R126W ENSP00000294337:R126W R + 1 2 CYP4A22 47379868 1.000000 0.71417 0.697000 0.30258 0.155000 0.21991 2.836000 0.48183 0.117000 0.18138 -0.665000 0.03846 CGG NOVEL CYP4A22-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000021635.1 6 9.02886 KEEP 0 0 0 30 1045 CC 0.999997 0.999997 0 + 19 60 717 0 0 46.684598 426 60 14517 567 ENST00000371891.3 0.042697 1 CYP4A22 284541 __UNKNOWN__ __UNKNOWN__ 1 47607641 47607641 __UNKNOWN__ Intron SNP C C T rs11211465 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:47607641C>T ENST00000371891.3 + 4 413 CYP4A22_ENST00000485117.1_Intron|CYP4A22_ENST00000294337.3_Intron|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000371890.3_Intron NM_001010969.2 NP_001010969.2 Q5TCH4 CP4AM_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 22 NA NA endoplasmic reticulum (GO:0005783)|membrane (GO:0016020) alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506) breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 CCTTTTCCTGCATTTGCCCAT 0.463 NA c||| 1684 0.336262 0.2073 0.232 5008 , , NA 24671 0.5546 NA 0.1928 False NA ,,, NA NA NA 2504 0.5072 NA NA NA Pancreas(88;1240 1470 2099 14214 37557) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS30707.1 1p33 2007-12-14 ENSG00000162365 ENSG00000162365 284541 Cytochrome P450s 20575 protein-coding gene gene with protein product 615341 NA Standard XM_208213 XM_005270768 NA Approved uc001cqv.1 Q5TCH4 OTTHUMG00000007845 ENST00000371891.3:c.383-139C>T chr1.hg19:g.47607641C>T NA Q5TCH3|Q6JXK7|Q6JXK8|Q9NRM4 hg19 CCDS30707.1 0.02 6.190327 CTGxATT COVERED NOVEL CYP4A22-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000021635.1 1 2.708715 KEEP 0 0 0 9 312 CC 0.99254 0.99254 0 + 8 60 289 0 0 18.754248 160 60 5937 181 ENST00000371891.3 0.047619 1 CYP4A22 284541 __UNKNOWN__ __UNKNOWN__ 1 47607762 47607762 __UNKNOWN__ Intron SNP T T C rs2056901 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:47607762T>C ENST00000371891.3 + 4 413 CYP4A22_ENST00000485117.1_Intron|CYP4A22_ENST00000294337.3_Intron|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000371890.3_Intron NM_001010969.2 NP_001010969.2 Q5TCH4 CP4AM_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 22 NA NA endoplasmic reticulum (GO:0005783)|membrane (GO:0016020) alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506) breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 CACATACACATATTCGTGTCT 0.527 NA C||| 1728 0.345048 0.2133 0.2363 5008 , , NA 23262 0.5546 NA 0.2038 False NA ,,, NA NA NA 2504 0.5297 NA NA NA Pancreas(88;1240 1470 2099 14214 37557) NA 0 C 1055,3351 118,819,1266 90 74 79 -1.1 0 1 dbSNP_94 79 1793,6807 193,1407,2700 no intron CYP4A22 NM_001010969.2 311,2226,3966 CC,CT,TT 20.8488,23.9446,21.8976 47607762 2848,10158 2203 4300 6503 SO:0001627 intron_variant CCDS30707.1 1p33 2007-12-14 ENSG00000162365 ENSG00000162365 284541 Cytochrome P450s 20575 protein-coding gene gene with protein product 615341 NA Standard XM_208213 XM_005270768 NA Approved uc001cqv.1 Q5TCH4 OTTHUMG00000007845 ENST00000371891.3:c.383-18T>C chr1.hg19:g.47607762T>C NA Q5TCH3|Q6JXK7|Q6JXK8|Q9NRM4 hg19 CCDS30707.1 0.02 17.975991 ACAxATT COVERED NOVEL CYP4A22-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000021635.1 2 9.928844 KEEP 0 0 0 33 1006 TT 0.999998 0.999998 0 + 16 60 598 0 0 37.881566 407 60 14681 558 ENST00000371891.3 0.037825 1 CYP4A22 284541 __UNKNOWN__ __UNKNOWN__ 1 47607785 47607785 __UNKNOWN__ Missense_Mutation SNP G G A rs2056900 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:47607785G>A ENST00000371891.3 + 4 419 c.388G>A c.(388-390)Ggc>Agc p.G130S CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000294337.3_Missense_Mutation_p.G130S|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000371890.3_Missense_Mutation_p.G130S NM_001010969.2 NP_001010969.2 Q5TCH4 CP4AM_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 22 130 NA G -> S (in allele CYP4A22*4, allele CYP4A22*10, allele CYP4A22*12, allele CYP4A22*13, allele CYP4A22*14 and allele CYP4A22*15; dbSNP:rs2056900). {ECO:0000269|PubMed:15611369, ECO:0000269|PubMed:16806293}. endoplasmic reticulum (GO:0005783)|membrane (GO:0016020) alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506) breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 CTTAGGGTACGGCTTGCTCCT 0.537 NA G||| 1684 0.336262 0.2073 0.232 5008 , , NA 22904 0.5546 NA 0.1928 False NA ,,, NA NA NA 2504 0.5072 NA NA NA Pancreas(88;1240 1470 2099 14214 37557) NA 0 G SER/GLY 1005,3401 374.2+/-321.1 104,797,1302 100 83 89 388 0.7 0.1 1 dbSNP_94 89 1733,6867 316.6+/-312.8 183,1367,2750 yes missense CYP4A22 NM_001010969.2 56 287,2164,4052 AA,AG,GG 20.1512,22.8098,21.0518 probably-damaging 130/520 47607785 2738,10268 2203 4300 6503 SO:0001583 missense CCDS30707.1 1p33 2007-12-14 ENSG00000162365 ENSG00000162365 284541 Cytochrome P450s 20575 protein-coding gene gene with protein product 615341 NA Standard XM_208213 XM_005270768 NA Approved uc001cqv.1 Q5TCH4 OTTHUMG00000007845 ENST00000371891.3:c.388G>A chr1.hg19:g.47607785G>A ENSP00000360958:p.Gly130Ser NA Q5TCH3|Q6JXK7|Q6JXK8|Q9NRM4 hg19 CCDS30707.1 0.02 18.604132 TACxGCT COVERED 640 0.29304029304029305 98 0.1991869918699187 86 0.23756906077348067 315 0.5506993006993007 141 0.18601583113456466 g 18.98 3.738385 0.69304 0.228098 0.201512 ENSG00000162365 ENST00000371890;ENST00000371891;ENST00000294337 T;T;T 0.72394 -0.65;-0.65;-0.65 1.7 0.679 0.17975 . 0.000000 0.85682 D 0.000000 T 0.00012 0.0000 M 0.87328 2.875 0.22811 P 0.99870156 P;D 0.69078 0.935;0.997 B;P 0.61722 0.38;0.893 T 0.45716 -0.9242 9 0.72032 D 0.01 . 8.2754 0.31868 0.1313:0.0:0.8687:0.0 rs2056900;rs52794745;rs2056900 130;130 Q5TCH5;Q5TCH4 .;CP4AM_HUMAN S 130 ENSP00000360957:G130S;ENSP00000360958:G130S;ENSP00000294337:G130S ENSP00000294337:G130S G + 1 0 CYP4A22 47380372 1.000000 0.71417 0.118000 0.21660 0.682000 0.39822 3.218000 0.51192 0.034000 0.15491 0.195000 0.17529 GGC NOVEL CYP4A22-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000021635.1 4 9.931761 KEEP 0 0 0 33 1128 GG 0.999998 0.999998 0 + 18 60 691 0 0 45.67702 389 60 13888 544 ENST00000371891.3 0.044226 1 CYP4A22 284541 __UNKNOWN__ __UNKNOWN__ 1 47609932 47609932 __UNKNOWN__ Intron SNP A A G rs199604229 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:47609932A>G ENST00000371891.3 + 7 821 CYP4A22_ENST00000485117.1_Intron|CYP4A22_ENST00000294337.3_Intron|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000371890.3_Intron NM_001010969.2 NP_001010969.2 Q5TCH4 CP4AM_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 22 NA NA endoplasmic reticulum (GO:0005783)|membrane (GO:0016020) alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506) breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TCATGCTGAGATCTACCAGGC 0.602 NA NA NA NA NA NA NA NA NA NA Pancreas(88;1240 1470 2099 14214 37557) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS30707.1 1p33 2007-12-14 ENSG00000162365 ENSG00000162365 284541 Cytochrome P450s 20575 protein-coding gene gene with protein product 615341 NA Standard XM_208213 XM_005270768 NA Approved uc001cqv.1 Q5TCH4 OTTHUMG00000007845 ENST00000371891.3:c.791-97A>G chr1.hg19:g.47609932A>G NA Q5TCH3|Q6JXK7|Q6JXK8|Q9NRM4 hg19 CCDS30707.1 0.02 4.406509 GAGxTCT UNCOVERED NOVEL CYP4A22-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000021635.1 2 2.406892 KEEP 31 0 0 8 252 AA 0 0 0 + 9 27 291 0 0 19.751061 113 50 4009 160 ENST00000371891.3 0.07377 0.999999 CYP4A22 284541 __UNKNOWN__ __UNKNOWN__ 1 47610117 47610117 __UNKNOWN__ Silent SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:47610117C>T ENST00000371891.3 + 7 910 c.879C>T c.(877-879)gaC>gaT p.D293D CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000294337.3_Silent_p.D293D|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000371890.3_Missense_Mutation_p.H242Y NM_001010969.2 NP_001010969.2 Q5TCH4 CP4AM_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 22 293 NA endoplasmic reticulum (GO:0005783)|membrane (GO:0016020) alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506) breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 ATTTTCTGGACATCCTCCTCT 0.507 NA NA NA NA NA NA NA NA NA NA Pancreas(88;1240 1470 2099 14214 37557) NA 0 162 152 156 NA NA 1 NA 47610117 2203 4300 6503 SO:0001819 synonymous_variant CCDS30707.1 1p33 2007-12-14 ENSG00000162365 ENSG00000162365 284541 Cytochrome P450s 20575 protein-coding gene gene with protein product 615341 NA Standard XM_208213 XM_005270768 NA Approved uc001cqv.1 Q5TCH4 OTTHUMG00000007845 ENST00000371891.3:c.879C>T chr1.hg19:g.47610117C>T NA Q5TCH3|Q6JXK7|Q6JXK8|Q9NRM4 hg19 CCDS30707.1 0.02 27.673682 GGAxATC COVERED . . . . . . . . . . c 11.57 1.677342 0.29783 . . ENSG00000162365 ENST00000371890 T 0.73047 -0.71 1.51 1.51 0.23008 . . . . . T 0.55752 0.1940 . . . 0.80722 D 1 B 0.29988 0.264 B 0.33690 0.168 T 0.45644 -0.9247 8 0.28530 T 0.3 . 4.9477 0.13999 0.0:0.6861:0.0:0.3139 . 242 Q5TCH5 . Y 242 ENSP00000360957:H242Y ENSP00000360957:H242Y H + 1 0 CYP4A22 47382704 0.991000 0.36638 0.996000 0.52242 0.350000 0.29205 0.279000 0.18771 0.842000 0.35045 0.194000 0.17425 CAT NOVEL CYP4A22-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000021635.1 5 9.39835 KEEP 15 2 56 51 1798 CC 1 1 0 + 45 44 1535 0 0 103.814831 613 60 22920 834 ENST00000371891.3 0.068389 1 CYP4A22 284541 __UNKNOWN__ __UNKNOWN__ 1 47611598 47611598 __UNKNOWN__ Missense_Mutation SNP T T C rs2405599 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:47611598T>C ENST00000371891.3 + 10 1314 c.1283T>C c.(1282-1284)cTa>cCa p.L428P CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000294337.3_Missense_Mutation_p.L428P|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000371890.3_Missense_Mutation_p.L330P NM_001010969.2 NP_001010969.2 Q5TCH4 CP4AM_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 22 428 NA L -> P (in allele CYP4A22*6, allele CYP4A22*9, allele CYP4A22*10, allele CYP4A22*12, allele CYP4A22*13 and allele CYP4A22*15; dbSNP:rs2405599). {ECO:0000269|PubMed:15611369, ECO:0000269|PubMed:16806293}. endoplasmic reticulum (GO:0005783)|membrane (GO:0016020) alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506) breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TGGCCCAACCTAGAGGTATGT 0.512 NA C||| 1882 0.375799 0.2239 0.2896 5008 , , NA 21691 0.6141 NA 0.2237 False NA ,,, NA NA NA 2504 0.5532 NA NA NA Pancreas(88;1240 1470 2099 14214 37557) NA 0 C PRO/LEU 1117,3289 132,853,1218 290 284 286 1283 0.6 0.7 1 dbSNP_100 286 1931,6669 221,1489,2590 no missense CYP4A22 NM_001010969.2 98 353,2342,3808 CC,CT,TT 22.4535,25.3518,23.4353 benign 428/520 47611598 3048,9958 2203 4300 6503 SO:0001583 missense CCDS30707.1 1p33 2007-12-14 ENSG00000162365 ENSG00000162365 284541 Cytochrome P450s 20575 protein-coding gene gene with protein product 615341 NA Standard XM_208213 XM_005270768 NA Approved uc001cqv.1 Q5TCH4 OTTHUMG00000007845 ENST00000371891.3:c.1283T>C chr1.hg19:g.47611598T>C ENSP00000360958:p.Leu428Pro NA Q5TCH3|Q6JXK7|Q6JXK8|Q9NRM4 hg19 CCDS30707.1 0.02 15.09152 ACCxAGA COVERED 683 0.31272893772893773 97 0.19715447154471544 91 0.2513812154696133 335 0.5856643356643356 160 0.21108179419525067 N 0.023 -1.394920 0.01175 0.253518 0.224535 ENSG00000162365 ENST00000371890;ENST00000371891;ENST00000294337 T;T;T 0.27890 1.64;1.64;1.64 1.59 0.642 0.17765 . 0.000000 0.85682 N 0.000000 T 0.00012 0.0000 N 0.00001 -3.695 0.30109 P 0.806743 B;B 0.06786 0.001;0.0 B;B 0.09377 0.004;0.0 T 0.44221 -0.9342 9 0.02654 T 1 . 5.7987 0.18401 0.0:0.6711:0.0:0.3289 rs2405599;rs59295354 330;428 Q5TCH5;Q5TCH4 .;CP4AM_HUMAN P 330;428;428 ENSP00000360957:L330P;ENSP00000360958:L428P;ENSP00000294337:L428P ENSP00000294337:L428P L + 2 0 CYP4A22 47384185 1.000000 0.71417 0.722000 0.30670 0.190000 0.23558 3.694000 0.54742 -0.120000 0.11809 -1.033000 0.02402 CTA NOVEL CYP4A22-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000021635.1 2 8.12318 KEEP 1 0 0 27 831 TT 0.999988 0.999988 0 + 20 60 765 0 0 53.478554 303 60 10967 400 ENST00000371891.3 0.06192 1 STIL 6491 __UNKNOWN__ __UNKNOWN__ 1 47770466 47770466 __UNKNOWN__ Intron SNP T T C rs3122616 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:47770466T>C ENST00000371877.3 - 3 300 STIL_ENST00000360380.3_Intron|STIL_ENST00000396221.2_Intron|STIL_ENST00000337817.5_Intron|STIL_ENST00000243182.6_Intron Q15468 STIL_HUMAN SCL/TAL1 interrupting locus NA NA cell proliferation (GO:0008283)|determination of left/right symmetry (GO:0007368)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|notochord development (GO:0030903)|smoothened signaling pathway (GO:0007224) centrosome (GO:0005813)|cytoplasm (GO:0005737) central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 36 Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444) TAAAGAAAAATGAATAATTGG 0.308 NA T||| 1588 0.317093 0.2988 0.3444 5008 , , NA 17732 0.5377 NA 0.161 False NA ,,, NA NA NA 2504 0.2556 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M74558 CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1 1p32 2010-02-09 2005-11-29 2005-11-29 ENSG00000123473 ENSG00000123473 6491 10879 protein-coding gene gene with protein product 181590 TAL1 (SCL) interrupting locus SIL NA 2209547 Standard NM_003035 NM_003035 NA Approved MCPH7 uc001crd.1 Q15468 OTTHUMG00000007851 ENST00000371877.3:c.152+94A>G chr1.hg19:g.47770466T>C NA Q5T0C5|Q68CN9 hg19 CCDS41329.1 0.02 4.716939 AAAxGAA COVERED NOVEL STIL-004 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000021652.2 2 3.308022 KEEP 0 0 0 11 304 TT 0.993072 0.993072 0 - 8 60 298 0 0 20.514659 124 60 4507 143 ENST00000371877.3 0.060606 1 CMPK1 51727 __UNKNOWN__ __UNKNOWN__ 1 47844017 47844017 __UNKNOWN__ 3'UTR SNP A A G rs3088062 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:47844017A>G ENST00000371873.5 + 0 2436 NM_001136140.1|NM_016308.2 NP_001129612.1|NP_057392.1 cytidine monophosphate (UMP-CMP) kinase 1, cytosolic NA NA endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(2) 8 GAGGTGGTTTAATCAAACAGC 0.363 NA A||| 1331 0.265775 0.118 0.3141 5008 , , NA 17007 0.5536 NA 0.1491 False NA ,,, NA NA NA 2504 0.2546 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF070416 CCDS549.1, CCDS44135.1 1p34.1-p33 2008-02-05 2008-01-25 2008-01-25 ENSG00000162368 ENSG00000162368 51727 2.7.4.14 18170 protein-coding gene gene with protein product UMP-CMP kinase, Cytidine monophosphate kinase 191710 cytidylate kinase CMPK NA 10462544 Standard NM_016308 NM_016308 NA Approved UMP-CMPK uc001cri.3 P30085 OTTHUMG00000007849 ENST00000371873.5:c.*1600A>G chr1.hg19:g.47844017A>G NA hg19 CCDS549.1 0.02 12.173965 TTTxATC COVERED NOVEL CMPK1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000021646.2 2 10.529269 KEEP 0 0 0 35 1056 AA 0.999999 0.999999 0 + 10 60 380 0 0 24.428356 247 60 8938 350 ENST00000371873.5 0.038911 1 ELAVL4 1996 __UNKNOWN__ __UNKNOWN__ 1 50668958 50668958 __UNKNOWN__ 3'UTR SNP T T C rs17106016 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:50668958T>C ENST00000371824.1 + 0 3466 ELAVL4_ENST00000371827.1_3'UTR P26378 ELAV4_HUMAN ELAV like neuron-specific RNA binding protein 4 NA NA mRNA processing (GO:0006397)|RNA processing (GO:0006396) AU-rich element binding (GO:0017091)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723) NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 32 GTTTTCACACTGAAAAGGCAA 0.348 NA T||| 591 0.118011 0.0182 0.0533 5008 , , NA 19588 0.3581 NA 0.0696 False NA ,,, NA NA NA 2504 0.1012 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY033998 CCDS553.1, CCDS44138.1, CCDS44139.1, CCDS44140.1, CCDS53315.1, CCDS72788.1 1p34 2013-10-03 2013-10-03 ENSG00000162374 ENSG00000162374 1996 RNA binding motif (RRM) containing 3315 protein-coding gene gene with protein product Hu antigen D 168360 ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D), ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 HUD NA 8222755 Standard NM_021952 XM_005270581 NA Approved PNEM uc001csb.2 P26378 OTTHUMG00000007877 ENST00000371824.1:c.*2108T>C chr1.hg19:g.50668958T>C NA B1APY6|B1APY7|B7Z4G7|Q8IYD4|Q96J74|Q96J75|Q9UD24 hg19 CCDS44140.1 0.02 8.88934 CACxGAA COVERED NOVEL ELAVL4-003 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000021711.1 2 5.11554 KEEP 0 0 0 17 549 TT 0.999366 0.999366 0 + 8 60 301 0 0 18.764793 227 60 8572 308 ENST00000371824.1 0.034043 1 DMRTA2 63950 __UNKNOWN__ __UNKNOWN__ 1 50884230 50884230 __UNKNOWN__ 3'UTR SNP G G C rs1296714 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:50884230G>C ENST00000404795.3 - 0 2128 DMRTA2_ENST00000418121.1_3'UTR NM_032110.2 NP_115486.1 Q96SC8 DMTA2_HUMAN DMRT-like family A2 NA NA cerebral cortex regionalization (GO:0021796)|dopaminergic neuron differentiation (GO:0071542)|neuron fate specification (GO:0048665)|positive regulation of neuroblast proliferation (GO:0002052)|skeletal muscle cell differentiation (GO:0035914) nucleus (GO:0005634) metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) endometrium(1)|lung(4)|pancreas(1) 6 GTGAGAAGACGCCCAGCCAGG 0.642 NA -||| 4463 0.891174 0.9841 0.9467 5008 , , NA 12810 0.9435 NA 0.9125 False NA ,,, NA NA NA 2504 0.6503 NA NA NA Colon(196;1651 2045 3292 36497 38236)|Esophageal Squamous(2;257 258 11567 27043 43804) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ301580 CCDS44141.1 1p33 2008-08-04 ENSG00000142700 ENSG00000142700 63950 13908 protein-coding gene gene with protein product 614804 NA 11863363 Standard NM_032110 NM_032110 NA Approved uc010onb.2 Q96SC8 OTTHUMG00000007884 ENST00000404795.3:c.*107C>G chr1.hg19:g.50884230G>C NA Q5TFQ3 hg19 CCDS44141.1 0.02 5.983319 GACxCCC COVERED NOVEL DMRTA2-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000351074.1 0 9.631407 KEEP 0 0 0 32 1139 GG 0.999998 0.999998 0 - 7 60 242 0 0 14.89501 162 60 5716 258 ENST00000404795.3 0.04142 1 FAF1 11124 __UNKNOWN__ __UNKNOWN__ 1 50956131 50956131 __UNKNOWN__ Intron SNP G G A rs12098011 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:50956131G>A ENST00000396153.2 - 17 2105 FAF1_ENST00000371778.4_Intron|FAF1_ENST00000545823.1_Intron NM_007051.2 NP_008982.1 Q9UNN5 FAF1_HUMAN Fas (TNFRSF6) associated factor 1 NA NA apoptotic process (GO:0006915)|cell death (GO:0008219)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein complex assembly (GO:0031334)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of cell adhesion (GO:0030155)|regulation of protein catabolic process (GO:0042176)|regulation of protein kinase activity (GO:0045859) CD95 death-inducing signaling complex (GO:0031265)|Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471) heat shock protein binding (GO:0031072)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625) breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1) 24 GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526) aaggaaggaaggaaaaagaaa 0.448 NA -||| 1935 0.386382 0.5794 0.3242 5008 , , NA 12280 0.1587 NA 0.4304 False NA ,,, NA NA NA 2504 0.3589 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF132938 CCDS554.1 1p32.3 2012-09-20 ENSG00000185104 ENSG00000185104 11124 UBX domain containing 3578 protein-coding gene gene with protein product TNFRSF6-associated factor 1, UBX domain protein 3A 604460 NA 10462485 Standard NM_007051 NM_007051 NA Approved CGI-03, hFAF1, HFAF1s, UBXD12, UBXN3A uc001cse.1 Q9UNN5 OTTHUMG00000007930 ENST00000396153.2:c.1653+128C>T chr1.hg19:g.50956131G>A NA Q549F0|Q9UF34|Q9UNT3|Q9Y2Z3 hg19 CCDS554.1 0.02 3.614501 GAAxGAA COVERED NOVEL FAF1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000021807.1 4 3.911569 KEEP 1 0 0 13 423 GG 0.994391 0.994391 0 - 7 60 213 1 1 12.782814 136 70 4892 177 ENST00000396153.2 0.048951 1 TXNDC12 51060 __UNKNOWN__ __UNKNOWN__ 1 52486163 52486163 __UNKNOWN__ 3'UTR SNP T T C rs76000153 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:52486163T>C ENST00000371626.4 - 0 2035 NM_015913.3 NP_056997.1 O95881 TXD12_HUMAN thioredoxin domain containing 12 (endoplasmic reticulum) NA NA cell redox homeostasis (GO:0045454) endoplasmic reticulum (GO:0005783) protein-disulfide reductase (glutathione) activity (GO:0019153) endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 7 Glutathione(DB00143) Tttattgttattgttgttgtt 0.353 NA T||| 204 0.0407348 0.003 0.049 5008 , , NA 21790 0.1379 NA 0.001 False NA ,,, NA NA NA 2504 0.0266 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF131758 CCDS561.1 1p32.3 2011-10-19 ENSG00000117862 ENSG00000117862 51060 Protein disulfide isomerases 24626 protein-coding gene gene with protein product endoplasmic reticulum thioredoxin superfamily member, 18 kDa, anterior gradient homolog 1 (Xenopus laevis), protein disulfide isomerase family A, member 16 609448 NA 8619474, 9110174 Standard NM_015913 NM_015913 NA Approved TLP19, ERP18, ERP19, hAG-1, AGR1, PDIA16 uc001cti.4 O95881 OTTHUMG00000008629 ENST00000371626.4:c.*442A>G chr1.hg19:g.52486163T>C NA B3KQS0|Q5T1T4|Q96H50 hg19 CCDS561.1 0.02 2.303594 TTAxTGT COVERED NOVEL TXNDC12-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000023818.1 0 3.911625 KEEP 0 0 0 13 412 TT 0.994391 0.993389 0 - 4 60 153 0 0 10.35982 74 60 2672 98 ENST00000371626.4 0.051282 0.998993 KTI12 112970 __UNKNOWN__ __UNKNOWN__ 1 52498861 52498861 __UNKNOWN__ Missense_Mutation SNP A A T rs2783175 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:52498861A>T ENST00000371614.1 - 1 627 c.573T>A c.(571-573)gaT>gaA p.D191E TXNDC12_ENST00000371626.4_Intron NM_138417.2 NP_612426.1 Q96EK9 KTI12_HUMAN KTI12 homolog, chromatin associated (S. cerevisiae) 191 NA D -> E (in dbSNP:rs2783175). ATP binding (GO:0005524) p.D191E(1) central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1) 12 ATTTCTCTGAATCCGGAGTCA 0.572 NA T||| 355 0.0708866 0.0802 0.0735 5008 , , NA 16217 0.1379 NA 0.0268 False NA ,,, NA NA NA 2504 0.0327 NA NA NA NA 1 Substitution - Missense(1) stomach(1) T ,GLU/ASP 319,4087 793.0+/-415.2 11,297,1895 55 61 59 ,573 -5.7 0 1 dbSNP_100 59 398,8202 798.7+/-407.4 7,384,3909 yes intron,missense TXNDC12,KTI12 NM_015913.2,NM_138417.2 ,45 18,681,5804 TT,TA,AA 4.6279,7.2401,5.5128 ,benign ,191/355 52498861 717,12289 2203 4300 6503 SO:0001583 missense CCDS562.1 1p32.3 2008-02-05 ENSG00000198841 ENSG00000198841 112970 25160 protein-coding gene gene with protein product NA 11929532 Standard NM_138417 NM_138417 NA Approved TOT4, MGC20419, SBBI81 uc001ctj.1 Q96EK9 OTTHUMG00000008630 ENST00000371614.1:c.573T>A chr1.hg19:g.52498861A>T ENSP00000360676:p.Asp191Glu NA hg19 CCDS562.1 0.02 10.602104 TGAxTCC COVERED 173 0.07921245421245421 46 0.09349593495934959 25 0.06906077348066299 74 0.12937062937062938 28 0.036939313984168866 T 3.931 -0.016193 0.07681 0.072401 0.046279 ENSG00000198841 ENST00000371614 T 0.46819 0.86 4.39 -5.73 0.02398 . . . . . T 0.00144 0.0004 N 0.02736 -0.51 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.10109 -1.0644 8 0.02654 T 1 . 7.0787 0.25219 0.2012:0.6352:0.0:0.1636 rs2783175;rs61455582;rs2783175 191 Q96EK9 KTI12_HUMAN E 191 ENSP00000360676:D191E ENSP00000360676:D191E D - 3 2 KTI12 52271449 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -3.454000 0.00465 -1.842000 0.01181 -1.250000 0.01514 GAT NOVEL KTI12-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000023821.1 3 46.040344 KEEP 0 0 0 153 4897 AA 1 1 0 - 12 60 438 0 0 28.060853 266 60 9482 558 ENST00000371614.1 0.043165 1 BTF3L4 91408 __UNKNOWN__ __UNKNOWN__ 1 52552001 52552001 __UNKNOWN__ Intron SNP A A C rs2985749 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:52552001A>C ENST00000313334.8 + 5 698 BTF3L4_ENST00000489308.2_Intron|BTF3L4_ENST00000472944.2_Intron|BTF3L4_ENST00000484036.1_3'UTR NM_152265.4 NP_689478.1 Q96K17 BT3L4_HUMAN basic transcription factor 3-like 4 NA NA endometrium(2)|kidney(1)|large_intestine(2) 5 CAACGTAAGCACCCACCTTAG 0.323 NA C||| 575 0.114816 0.2738 0.0706 5008 , , NA 18962 0.1359 NA 0.001 False NA ,,, NA NA NA 2504 0.0266 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC021004 CCDS30713.1, CCDS44146.1, CCDS58001.1 1p32.3 2011-05-26 ENSG00000134717 ENSG00000134717 91408 30547 protein-coding gene gene with protein product NA 12477932 Standard NM_152265 NM_001136497 NA Approved MGC23908 uc001ctk.3 Q96K17 OTTHUMG00000008960 ENST00000313334.8:c.430+158A>C chr1.hg19:g.52552001A>C NA B3KNJ1|D3DQ32|G3V1C6 hg19 CCDS30713.1 0.02 11.049959 AGCxCCC COVERED NOVEL BTF3L4-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000024848.1 0 13.838372 KEEP 0 0 0 46 1403 AA 1 1 0 + 10 60 372 0 0 23.553809 251 60 8985 370 ENST00000313334.8 0.038314 1 BTF3L4 91408 __UNKNOWN__ __UNKNOWN__ 1 52552637 52552637 __UNKNOWN__ 3'UTR SNP T T C rs59771676 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:52552637T>C ENST00000313334.8 + 0 952 BTF3L4_ENST00000489308.2_3'UTR|BTF3L4_ENST00000472944.2_3'UTR NM_152265.4 NP_689478.1 Q96K17 BT3L4_HUMAN basic transcription factor 3-like 4 NA NA endometrium(2)|kidney(1)|large_intestine(2) 5 GGTCAAAATATGAAGTATTGG 0.308 NA T||| 202 0.0403355 0.003 0.049 5008 , , NA 16617 0.1359 NA 0.001 False NA ,,, NA NA NA 2504 0.0266 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC021004 CCDS30713.1, CCDS44146.1, CCDS58001.1 1p32.3 2011-05-26 ENSG00000134717 ENSG00000134717 91408 30547 protein-coding gene gene with protein product NA 12477932 Standard NM_152265 NM_001136497 NA Approved MGC23908 uc001ctk.3 Q96K17 OTTHUMG00000008960 ENST00000313334.8:c.*207T>C chr1.hg19:g.52552637T>C NA B3KNJ1|D3DQ32|G3V1C6 hg19 CCDS30713.1 0.02 4.056265 ATAxGAA COVERED NOVEL BTF3L4-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000024848.1 4 11.735716 KEEP 0 0 0 39 1234 TT 1 1 0 + 7 60 244 0 0 15.698979 132 60 4916 207 ENST00000313334.8 0.05036 1 BTF3L4 91408 __UNKNOWN__ __UNKNOWN__ 1 52555985 52555985 __UNKNOWN__ 3'UTR SNP C C T rs3015298 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:52555985C>T ENST00000313334.8 + 0 4300 NM_152265.4 NP_689478.1 Q96K17 BT3L4_HUMAN basic transcription factor 3-like 4 NA NA endometrium(2)|kidney(1)|large_intestine(2) 5 ATGATTAAAGCGTGTTATCTC 0.383 NA T||| 574 0.114617 0.2738 0.0692 5008 , , NA 21240 0.1359 NA 0.001 False NA ,,, NA NA NA 2504 0.0266 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC021004 CCDS30713.1, CCDS44146.1, CCDS58001.1 1p32.3 2011-05-26 ENSG00000134717 ENSG00000134717 91408 30547 protein-coding gene gene with protein product NA 12477932 Standard NM_152265 NM_001136497 NA Approved MGC23908 uc001ctk.3 Q96K17 OTTHUMG00000008960 ENST00000313334.8:c.*3555C>T chr1.hg19:g.52555985C>T NA B3KNJ1|D3DQ32|G3V1C6 hg19 CCDS30713.1 0.02 7.791192 AAGxGTG COVERED NOVEL BTF3L4-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000024848.1 1 11.73685 KEEP 0 0 0 39 1322 CC 1 1 0 + 9 60 300 0 0 18.353334 192 60 6757 279 ENST00000313334.8 0.044776 1 ORC1 4998 __UNKNOWN__ __UNKNOWN__ 1 52851608 52851608 __UNKNOWN__ Missense_Mutation SNP G G A rs3087481 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:52851608G>A ENST00000371568.3 - 9 1615 c.1397C>T c.(1396-1398)aCg>aTg p.T466M ORC1_ENST00000371566.1_Missense_Mutation_p.T466M NM_001190818.1|NM_001190819.1|NM_004153.3 NP_001177747.1|NP_001177748.1|NP_004144.2 Q13415 ORC1_HUMAN origin recognition complex, subunit 1 466 NA T -> M (in dbSNP:rs3087481). DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear origin of replication recognition complex (GO:0005664)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677) breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 ACAACGTGGCGTTCTAGGCTT 0.512 NA g||| 186 0.0371406 0.0008 0.0476 5008 , , NA 18986 0.125 NA 0.001 False NA ,,, NA NA NA 2504 0.0256 NA NA NA NA 0 A MET/THR,MET/THR,MET/THR 9,4397 14.3+/-33.2 0,9,2194 43 42 43 1397,1382,1397 2.4 0 1 dbSNP_102 43 13,8587 9.1+/-34.3 0,13,4287 yes missense,missense,missense ORC1 NM_001190818.1,NM_001190819.1,NM_004153.3 81,81,81 0,22,6481 AA,AG,GG 0.1512,0.2043,0.1692 probably-damaging,probably-damaging,probably-damaging 466/862,461/857,466/862 52851608 22,12984 2203 4300 6503 SO:0001583 missense CCDS566.1 1p32 2010-10-12 2010-10-12 2010-10-12 ENSG00000085840 ENSG00000085840 4998 ATPases / AAA-type 8487 protein-coding gene gene with protein product origin recognition complex, subunit 1, S. cerevisiae, homolog-like, origin recognition complex 1, replication control protein 1 601902 origin recognition complex, subunit 1 (yeast homolog)-like, origin recognition complex, subunit 1-like (yeast), origin recognition complex, subunit 1 homolog (S. cerevisiae) ORC1L NA 8884289 Standard NM_004153 NM_004153 NA Approved HSORC1, PARC1 uc001ctu.3 Q13415 OTTHUMG00000008104 ENST00000371568.3:c.1397C>T chr1.hg19:g.52851608G>A ENSP00000360623:p.Thr466Met NA D3DQ34|Q13471|Q5T0F5 hg19 CCDS566.1 0.02 2.413726 GGCxTTC COVERED 85 0.03891941391941392 1 0.0020325203252032522 18 0.049723756906077346 66 0.11538461538461539 0 0.0 g 10.21 1.287810 0.23478 0.002043 0.001512 ENSG00000085840 ENST00000371568;ENST00000371566 T;T 0.51574 0.7;0.7 5.3 2.43 0.29744 . 0.533832 0.22175 N 0.063591 T 0.00875 0.0029 M 0.82517 2.595 0.44149 D 0.996943 P;P 0.51537 0.946;0.945 B;B 0.40444 0.246;0.329 T 0.00527 -1.1688 10 0.56958 D 0.05 -0.1226 10.6796 0.45807 0.2075:0.0:0.7925:0.0 rs3087481;rs17107198;rs52814239;rs61216049;rs3087481 461;466 B7Z8H0;Q13415 .;ORC1_HUMAN M 466 ENSP00000360623:T466M;ENSP00000360621:T466M ENSP00000360621:T466M T - 2 0 ORC1 52624196 0.964000 0.33143 0.002000 0.10522 0.237000 0.25408 2.833000 0.48159 0.333000 0.23563 -0.127000 0.14921 ACG NOVEL ORC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000022202.1 0 3.611733 KEEP 0 0 0 12 420 GG 0.993634 0.967765 0 - 4 60 147 0 0 10.417894 50 60 1802 78 ENST00000371568.3 0.074074 0.973965 CPT2 1376 __UNKNOWN__ __UNKNOWN__ 1 53662823 53662823 __UNKNOWN__ Intron SNP C C A rs72673121 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:53662823C>A ENST00000371486.3 + 1 667 CPT2_ENST00000468572.1_Intron NM_000098.2 NP_000089.1 P23786 CPT2_HUMAN carnitine palmitoyltransferase 2 NA NA carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281) mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634) carnitine O-palmitoyltransferase activity (GO:0004095) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 15 L-Carnitine(DB00583)|Perhexiline(DB01074) TCGGCCCCAACCTGACTGCAG 0.662 NA C||| 445 0.0888578 0.0136 0.1441 5008 , , NA 12784 0.0496 NA 0.2068 False NA ,,, NA NA NA 2504 0.0706 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC002445 CCDS575.1 1p32.3 2014-01-09 2009-03-04 ENSG00000157184 ENSG00000157184 1376 2.3.1.21 2330 protein-coding gene gene with protein product 600650 carnitine palmitoyltransferase II CPT1 NA 1339389 Standard NM_000098 NM_000098 NA Approved CPTASE uc001cvb.4 P23786 OTTHUMG00000008942 ENST00000371486.3:c.152+56C>A chr1.hg19:g.53662823C>A NA B2R6S0|Q5SW68|Q9BQ26 hg19 CCDS575.1 0.02 7.686751 CAAxCTG COVERED NOVEL CPT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000024757.1 4 80.963445 KEEP 0 0 0 269 9542 CC 1 1 0 + 11 60 381 0 0 23.826516 236 60 8768 696 ENST00000371486.3 0.044534 1 CPT2 1376 __UNKNOWN__ __UNKNOWN__ 1 53679229 53679229 __UNKNOWN__ Missense_Mutation SNP A A G rs1799822 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:53679229A>G ENST00000371486.3 + 5 2454 c.1939A>G c.(1939-1941)Atg>Gtg p.M647V RP5-1024G6.2_ENST00000452466.1_RNA NM_000098.2 NP_000089.1 P23786 CPT2_HUMAN carnitine palmitoyltransferase 2 647 NA M -> V (common polymorphism; confirmed at protein level; dbSNP:rs1799822). {ECO:0000269|PubMed:14605500, ECO:0000269|PubMed:1528846, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17488105, ECO:0000269|PubMed:18306170, ECO:0000269|PubMed:9600456, ECO:0000269|PubMed:9758712}. carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281) mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634) carnitine O-palmitoyltransferase activity (GO:0004095) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 15 L-Carnitine(DB00583)|Perhexiline(DB01074) CTTAGAAGACATGTTTGATGC 0.483 NA A||| 503 0.100439 0.0227 0.1542 5008 , , NA 20518 0.0853 NA 0.2068 False NA ,,, NA NA NA 2504 0.0736 NA NA NA NA 0 A VAL/MET 240,4166 140.8+/-176.2 7,226,1970 88 80 83 1939 5.9 1 1 dbSNP_89 83 1937,6663 341.9+/-324.3 208,1521,2571 yes missense CPT2 NM_000098.2 21 215,1747,4541 GG,GA,AA 22.5233,5.4471,16.7384 benign 647/659 53679229 2177,10829 2203 4300 6503 SO:0001583 missense BC002445 CCDS575.1 1p32.3 2014-01-09 2009-03-04 ENSG00000157184 ENSG00000157184 1376 2.3.1.21 2330 protein-coding gene gene with protein product 600650 carnitine palmitoyltransferase II CPT1 NA 1339389 Standard NM_000098 NM_000098 NA Approved CPTASE uc001cvb.4 P23786 OTTHUMG00000008942 ENST00000371486.3:c.1939A>G chr1.hg19:g.53679229A>G ENSP00000360541:p.Met647Val NA B2R6S0|Q5SW68|Q9BQ26 hg19 CCDS575.1 0.02 16.807277 GACxTGT COVERED 280 0.1282051282051282 14 0.028455284552845527 68 0.1878453038674033 54 0.0944055944055944 144 0.18997361477572558 A 17.02 3.280726 0.59758 0.054471 0.225233 ENSG00000157184 ENST00000371486 D 0.90133 -2.62 5.9 5.9 0.94986 . 0.189419 0.56097 D 0.000031 T 0.00178 0.0005 L 0.31752 0.955 0.23371 P 0.99781582 B 0.09022 0.002 B 0.13407 0.009 T 0.11665 -1.0578 9 0.44086 T 0.13 -32.7754 16.3322 0.83039 1.0:0.0:0.0:0.0 rs1799822;rs17377870;rs17848486;rs17849929;rs17857680;rs52797123;rs1799822 647 P23786 CPT2_HUMAN V 647 ENSP00000360541:M647V ENSP00000360541:M647V M + 1 0 CPT2 53451817 1.000000 0.71417 1.000000 0.80357 0.994000 0.84299 7.445000 0.80570 2.251000 0.74343 0.528000 0.53228 ATG NOVEL CPT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000024757.1 9 30.391828 KEEP 0 0 0 101 3197 AA 1 1 0 + 23 60 799 0 0 51.862362 410 60 15077 651 ENST00000371486.3 0.053118 1 LRP8 7804 __UNKNOWN__ __UNKNOWN__ 1 53792651 53792651 __UNKNOWN__ Missense_Mutation SNP A A C rs3820198 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:53792651A>C ENST00000347547.2 - 2 137 c.138T>G c.(136-138)gaT>gaG p.D46E LRP8_ENST00000354412.3_Missense_Mutation_p.D46E|LRP8_ENST00000465675.1_5'UTR|LRP8_ENST00000306052.6_Missense_Mutation_p.D46E|LRP8_ENST00000371454.2_Missense_Mutation_p.D46E NM_033300.3 NP_150643.2 Q14114 LRP8_HUMAN low density lipoprotein receptor-related protein 8, apolipoprotein e receptor 46 LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}. NA D -> E (in dbSNP:rs3820198). {ECO:0000269|PubMed:11152697, ECO:0000269|PubMed:12399018, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:8626535, ECO:0000269|PubMed:9079678}. ammon gyrus development (GO:0021541)|blood coagulation (GO:0007596)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cytokine-mediated signaling pathway (GO:0019221)|endocytosis (GO:0006897)|layer formation in cerebral cortex (GO:0021819)|lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction, visible light (GO:0007603)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendrite development (GO:1900006)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|proteolysis (GO:0006508)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|regulation of synaptic transmission (GO:0050804)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165) caveola (GO:0005901)|dendrite (GO:0030425)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|receptor complex (GO:0043235) apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|high-density lipoprotein particle binding (GO:0008035)|reelin receptor activity (GO:0038025)|transmembrane signaling receptor activity (GO:0004888)|very-low-density lipoprotein particle receptor activity (GO:0030229) endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1) 21 CCTTTTCGCAATCCTTGGCCG 0.657 NA C||| 2756 0.550319 0.9327 0.2997 5008 , , NA 16437 0.4841 NA 0.3867 False NA ,,, NA NA NA 2504 0.4479 NA NA NA NA 0 C GLU/ASP,GLU/ASP,GLU/ASP,GLU/ASP 3635,771 310.2+/-291.5 1503,629,71 73 70 71 138,138,138,138 0.8 0.3 1 dbSNP_107 71 3093,5507 659.0+/-401.6 526,2041,1733 yes missense,missense,missense,missense LRP8 NM_001018054.2,NM_004631.4,NM_017522.4,NM_033300.3 45,45,45,45 2029,2670,1804 CC,CA,AA 35.9651,17.4989,48.27 benign,benign,benign,benign 46/905,46/964,46/701,46/794 53792651 6728,6278 2203 4300 6503 SO:0001583 missense D50678 CCDS578.1, CCDS579.1, CCDS580.1, CCDS30720.1 1p32.3 2013-05-29 ENSG00000157193 ENSG00000157193 7804 Low density lipoprotein receptors 6700 protein-coding gene gene with protein product 602600 NA 8626535, 9079678 Standard NM_004631 NM_004631 NA Approved APOER2, MCI1, LRP-8, HSZ75190 uc001cvi.2 Q14114 OTTHUMG00000008924 ENST00000347547.2:c.138T>G chr1.hg19:g.53792651A>C ENSP00000334522:p.Asp46Glu NA B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78 hg19 CCDS580.1 0.02 15.835476 GCAxTCC COVERED 1137 0.5206043956043956 452 0.9186991869918699 115 0.31767955801104975 273 0.4772727272727273 297 0.391820580474934 C 0.069 -1.207045 0.01568 0.825011 0.359651 ENSG00000157193 ENST00000306052;ENST00000371454;ENST00000354412;ENST00000347547 D;D;D;D 0.95103 -3.61;-3.61;-3.61;-3.61 4.0 0.782 0.18567 . . . . . T 0.00012 0.0000 N 0.04820 -0.15 0.47698 P 5.079999999999529E-4 B;B;B;B 0.06786 0.0;0.0;0.001;0.0 B;B;B;B 0.04013 0.0;0.0;0.001;0.001 T 0.43343 -0.9397 8 0.02654 T 1 . 1.5348 0.02543 0.1427:0.4549:0.1388:0.2636 rs3820198;rs57022272;rs3820198 46;46;46;46 Q14114-2;Q14114-4;Q14114-3;Q14114 .;.;.;LRP8_HUMAN E 46 ENSP00000303634:D46E;ENSP00000360509:D46E;ENSP00000346391:D46E;ENSP00000334522:D46E ENSP00000303634:D46E D - 3 2 LRP8 53565239 0.005000 0.15991 0.274000 0.24659 0.166000 0.22503 -0.884000 0.04166 -0.278000 0.09180 -1.219000 0.01604 GAT NOVEL LRP8-011 NOVEL not_organism_supported|basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000387761.1 1 24.668761 KEEP 0 0 0 82 2457 AA 1 1 0 - 12 60 449 0 0 27.938241 338 60 12091 497 ENST00000347547.2 0.034286 1 LRP8 7804 __UNKNOWN__ __UNKNOWN__ 1 53793511 53793511 __UNKNOWN__ Missense_Mutation SNP T T C rs4926972 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:53793511T>C ENST00000347547.2 - 1 73 c.74A>G c.(73-75)cAg>cGg p.Q25R LRP8_ENST00000354412.3_Missense_Mutation_p.Q25R|LRP8_ENST00000306052.6_Missense_Mutation_p.Q25R|LRP8_ENST00000371454.2_Missense_Mutation_p.Q25R NM_033300.3 NP_150643.2 Q14114 LRP8_HUMAN low density lipoprotein receptor-related protein 8, apolipoprotein e receptor 25 NA Q -> R (in dbSNP:rs4926972). {ECO:0000269|PubMed:11152697, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:8626535, ECO:0000269|PubMed:9079678}. ammon gyrus development (GO:0021541)|blood coagulation (GO:0007596)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cytokine-mediated signaling pathway (GO:0019221)|endocytosis (GO:0006897)|layer formation in cerebral cortex (GO:0021819)|lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction, visible light (GO:0007603)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendrite development (GO:1900006)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|proteolysis (GO:0006508)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|regulation of synaptic transmission (GO:0050804)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165) caveola (GO:0005901)|dendrite (GO:0030425)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|receptor complex (GO:0043235) apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|high-density lipoprotein particle binding (GO:0008035)|reelin receptor activity (GO:0038025)|transmembrane signaling receptor activity (GO:0004888)|very-low-density lipoprotein particle receptor activity (GO:0030229) endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1) 21 ATGCTGGagctgcagcagcag 0.741 NA C||| 2756 0.550319 0.9327 0.2997 5008 , , NA 7123 0.4841 NA 0.3867 False NA ,,, NA NA NA 2504 0.4479 NA NA NA NA 0 1 2 2 NA NA 1 NA 53793511 911 2047 2958 SO:0001583 missense D50678 CCDS578.1, CCDS579.1, CCDS580.1, CCDS30720.1 1p32.3 2013-05-29 ENSG00000157193 ENSG00000157193 7804 Low density lipoprotein receptors 6700 protein-coding gene gene with protein product 602600 NA 8626535, 9079678 Standard NM_004631 NM_004631 NA Approved APOER2, MCI1, LRP-8, HSZ75190 uc001cvi.2 Q14114 OTTHUMG00000008924 ENST00000347547.2:c.74A>G chr1.hg19:g.53793511T>C ENSP00000334522:p.Gln25Arg NA B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78 hg19 CCDS580.1 0.02 -0.280739 AGCxGCA COVERED 1082 0.49542124542124544 405 0.823170731707317 112 0.30939226519337015 268 0.46853146853146854 297 0.391820580474934 c 0.012 -1.664933 0.00765 . . ENSG00000157193 ENST00000306052;ENST00000371454;ENST00000354412;ENST00000347547 D;D;D;D 0.90563 -2.67;-2.67;-2.69;-2.64 3.47 -3.85 0.04243 . . . . . T 0.00012 0.0000 N 0.08118 0 0.80722 P 0.0 B;B;B;B 0.14805 0.005;0.0;0.01;0.011 B;B;B;B 0.12837 0.004;0.0;0.008;0.003 T 0.30909 -0.9962 8 0.12430 T 0.62 . 11.9 0.52678 0.0:0.3284:0.0:0.6716 rs4926972 25;25;25;25 Q14114-2;Q14114-4;Q14114-3;Q14114 .;.;.;LRP8_HUMAN R 25 ENSP00000303634:Q25R;ENSP00000360509:Q25R;ENSP00000346391:Q25R;ENSP00000334522:Q25R ENSP00000303634:Q25R Q - 2 0 LRP8 53566099 0.879000 0.30193 0.011000 0.14972 0.018000 0.09664 -1.775000 0.01783 -1.821000 0.01213 -3.002000 0.00076 CAG NOVEL LRP8-011 NOVEL not_organism_supported|basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000387761.1 0 3.611253 KEEP 0 0 0 12 389 TT 0.993634 0.734962 0 - 3 60 95 0 0 6.609774 29 60 1067 52 ENST00000347547.2 0.09375 0.739671 YIPF1 54432 __UNKNOWN__ __UNKNOWN__ 1 54325688 54325688 __UNKNOWN__ Intron SNP T T C rs11206230 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:54325688T>C ENST00000072644.1 - 10 1266 YIPF1_ENST00000371399.1_Intron|YIPF1_ENST00000539954.1_Intron NM_018982.4 NP_061855.1 Q9Y548 YIPF1_HUMAN Yip1 domain family, member 1 NA NA integral component of membrane (GO:0016021)|transport vesicle (GO:0030133) endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|skin(1)|urinary_tract(2) 19 CTGCCCATGTTTTATGGCACC 0.443 NA t||| 189 0.0377396 0.003 0.0346 5008 , , NA 19957 0.1091 NA 0.0398 False NA ,,, NA NA NA 2504 0.0112 NA NA NA NA 0 C 43,4363 43.1+/-76.7 1,41,2161 64 57 59 -3.7 0 1 dbSNP_120 59 352,8248 112.0+/-172.2 11,330,3959 no intron YIPF1 NM_018982.4 12,371,6120 CC,CT,TT 4.093,0.9759,3.0371 54325688 395,12611 2203 4300 6503 SO:0001627 intron_variant BC009674 CCDS584.1 1p33-p32.1 2008-02-05 ENSG00000058799 ENSG00000058799 54432 Yip1 domain family 25231 protein-coding gene gene with protein product NA 12477932 Standard NM_018982 NM_018982 NA Approved DJ167A19.1, FinGER1 uc001cvu.3 Q9Y548 OTTHUMG00000008074 ENST00000072644.1:c.918+40A>G chr1.hg19:g.54325688T>C NA B2RCM7|D3DQ40|Q9NWJ1 hg19 CCDS584.1 0.02 16.30096 TGTxTTA COVERED NOVEL YIPF1-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000022103.5 2 22.868086 KEEP 0 0 0 76 2420 TT 1 1 0 - 11 60 419 0 0 25.861191 344 60 12200 530 ENST00000072644.1 0.030986 1 YIPF1 54432 __UNKNOWN__ __UNKNOWN__ 1 54344282 54344282 __UNKNOWN__ Intron SNP C C A rs2272928 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:54344282C>A ENST00000072644.1 - 5 613 YIPF1_ENST00000469457.1_Intron|YIPF1_ENST00000371399.1_Intron|YIPF1_ENST00000539954.1_Intron NM_018982.4 NP_061855.1 Q9Y548 YIPF1_HUMAN Yip1 domain family, member 1 NA NA integral component of membrane (GO:0016021)|transport vesicle (GO:0030133) endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|skin(1)|urinary_tract(2) 19 TCTCCTTTACCCGTAAAAGGA 0.358 NA A||| 3470 0.692891 0.761 0.5014 5008 , , NA 17832 0.8502 NA 0.5676 False NA ,,, NA NA NA 2504 0.7035 NA NA NA NA 0 A 3281,1125 401.5+/-332.0 1222,837,144 64 66 66 -1.1 0 1 dbSNP_100 66 4761,3839 539.8+/-383.7 1324,2113,863 no intron YIPF1 NM_018982.4 2546,2950,1007 AA,AC,CC 44.6395,25.5334,38.167 54344282 8042,4964 2203 4300 6503 SO:0001627 intron_variant BC009674 CCDS584.1 1p33-p32.1 2008-02-05 ENSG00000058799 ENSG00000058799 54432 Yip1 domain family 25231 protein-coding gene gene with protein product NA 12477932 Standard NM_018982 NM_018982 NA Approved DJ167A19.1, FinGER1 uc001cvu.3 Q9Y548 OTTHUMG00000008074 ENST00000072644.1:c.276+32G>T chr1.hg19:g.54344282C>A NA B2RCM7|D3DQ40|Q9NWJ1 hg19 CCDS584.1 0.02 6.454588 TACxCGT COVERED NOVEL YIPF1-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000022103.5 2 7.157823 KEEP 0 1 32 35 1209 CC 0.999999 0.999999 0 - 9 60 330 0 0 21.963098 163 60 5940 244 ENST00000072644.1 0.052326 1 DIO1 1733 __UNKNOWN__ __UNKNOWN__ 1 54359922 54359922 __UNKNOWN__ Silent SNP C C T rs2294510 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:54359922C>T ENST00000361921.3 + 1 63 c.39C>T c.(37-39)ctC>ctT p.L13L DIO1_ENST00000534069.1_Intron|DIO1_ENST00000388876.3_Silent_p.L13L|DIO1_ENST00000322679.6_Silent_p.L13L|DIO1_ENST00000524406.1_5'UTR|DIO1_ENST00000532493.1_Silent_p.L13L|DIO1_ENST00000525202.1_Silent_p.L13L NM_000792.5|NM_213593.3 NP_000783.2|NP_998758.1 P49895 IOD1_HUMAN deiodinase, iodothyronine, type I 13 NA cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) selenium binding (GO:0008430)|thyroxine 5'-deiodinase activity (GO:0004800) cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1) 9 TGAAGAGGCTCTGGGTGCTCT 0.577 NA C||| 510 0.101837 0.236 0.0548 5008 , , NA 18471 0.1071 NA 0.0408 False NA ,,, NA NA NA 2504 0.0112 NA NA NA NA 0 C ,,, 933,3473 355.6+/-313.1 95,743,1365 89 79 82 39,39,39,39 -0.2 0.9 1 dbSNP_100 82 367,8233 121.8+/-180.9 12,343,3945 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous DIO1 NM_000792.5,NM_001039715.1,NM_001039716.1,NM_213593.3 ,,, 107,1086,5310 TT,TC,CC 4.2674,21.1757,9.9954 ,,, 13/250,13/202,13/162,13/186 54359922 1300,11706 2203 4300 6503 SO:0001819 synonymous_variant CCDS30722.1, CCDS41339.1, CCDS41340.1, CCDS53320.1 1p33-p32 2012-03-01 ENSG00000211452 ENSG00000211452 1733 1.97.1.10 2883 protein-coding gene gene with protein product 147892 TXDI1 NA 8964838 Standard NM_000792 NA Approved uc001cwb.3 P49895 OTTHUMG00000008435 ENST00000361921.3:c.39C>T chr1.hg19:g.54359922C>T NA Q1RN02|Q3KNP8|Q6Q4C1|Q6Q4C2|Q6Q4C3|Q6Q4C4|Q6Q4C5|Q6Q4C6|Q6Q4C7|Q6Q4C9|Q8WWC6 hg19 CCDS41339.1 0.02 13.68893 GCTxTGG COVERED NOVEL DIO1-001 KNOWN basic|appris_principal|CCDS|seleno protein_coding NA protein_coding OTTHUMT00000023247.3 0 25.279594 KEEP 0 0 0 84 2862 CC 1 1 0 + 10 60 357 0 0 20.278483 381 60 14250 556 ENST00000361921.3 0.025575 1 LDLRAD1 388633 __UNKNOWN__ __UNKNOWN__ 1 54483694 54483694 __UNKNOWN__ Intron SNP C C T rs34764952 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:54483694C>T ENST00000371360.1 - 1 39 LDLRAD1_ENST00000545928.1_Intron|LDLRAD1_ENST00000420619.1_Intron|LDLRAD1_ENST00000371362.3_Intron NM_001010978.2 NP_001010978.2 Q5T700 LRAD1_HUMAN low density lipoprotein receptor class A domain containing 1 NA NA integral component of membrane (GO:0016021) large_intestine(3)|prostate(1)|skin(3) 7 GGACAGCTCTCACCTGGGGAC 0.562 NA C||| 1725 0.344449 0.09 0.4942 5008 , , NA 17490 0.5565 NA 0.4105 False NA ,,, NA NA NA 2504 0.2955 NA NA NA NA 0 C 169,1215 11,147,534 65 68 67 1 0 1 dbSNP_126 67 1290,1892 252,786,553 no intron LDLRAD1 NM_001010978.2 263,933,1087 TT,TC,CC 40.5405,12.211,31.9536 54483694 1459,3107 692 1591 2283 SO:0001627 intron_variant CCDS30725.1, CCDS60145.1, CCDS60146.1, CCDS60147.1 1p32.3 2008-02-05 2005-10-07 ENSG00000203985 ENSG00000203985 388633 32069 protein-coding gene gene with protein product low density lipoprotein receptor A domain containing 1 NA Standard NM_001010978 NM_001010978 NA Approved uc001cwm.2 Q5T700 OTTHUMG00000008433 ENST00000371360.1:c.21+70G>A chr1.hg19:g.54483694C>T NA A0PJY0|B7ZME3|Q5T6Z9 hg19 CCDS30725.1 0.02 5.212157 TCTxACC COVERED NOVEL LDLRAD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000023243.1 1 5.115816 KEEP 0 0 0 17 561 CC 0.999366 0.999366 0 - 7 60 239 0 0 14.072503 193 60 7080 241 ENST00000371360.1 0.035 1 TMEM59 9528 __UNKNOWN__ __UNKNOWN__ 1 54519107 54519107 __UNKNOWN__ 5'UTR SNP G G C rs2236512 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:54519107G>C ENST00000234831.5 - 0 4 TMEM59_ENST00000371341.1_5'UTR NM_004872.3 NP_004863.2 Q9BXS4 TMM59_HUMAN transmembrane protein 59 NA NA autophagy (GO:0006914)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of protein glycosylation in Golgi (GO:0090285)|negative regulation of protein processing (GO:0010955)|positive regulation of autophagy (GO:0010508) extracellular vesicular exosome (GO:0070062)|Golgi cis cisterna (GO:0000137)|Golgi medial cisterna (GO:0005797)|Golgi trans cisterna (GO:0000138)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886) endopeptidase activity (GO:0004175) kidney(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 7 CGCGAAGCGGGGCCTCCTGAC 0.607 NA g||| 596 0.11901 0.0318 0.2608 5008 , , NA 17097 0.3105 NA 0.0149 False NA ,,, NA NA NA 2504 0.046 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF047439 CCDS586.1 1p32.3 2008-05-14 2005-07-22 2005-07-22 ENSG00000116209 ENSG00000116209 9528 1239 protein-coding gene gene with protein product chromosome 1 open reading frame 8 C1orf8 NA 9653160 Standard NM_004872 NM_004872 NA Approved HSPC001 uc001cwp.3 Q9BXS4 OTTHUMG00000008437 ENST00000234831.5:c.-246C>G chr1.hg19:g.54519107G>C NA B3KQL7|O75393|Q4VBP9|Q5T705|Q96KX7 hg19 CCDS586.1 0.02 4.490806 CGGxGCC COVERED NOVEL TMEM59-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000023254.2 0 30.396177 KEEP 0 0 0 101 3547 GG 1 1 0 - 6 60 194 0 0 11.624639 129 60 4782 314 ENST00000234831.5 0.044444 1 TCEANC2 127428 __UNKNOWN__ __UNKNOWN__ 1 54561916 54561916 __UNKNOWN__ Intron SNP C C T rs7555099 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:54561916C>T ENST00000234827.1 + 5 638 TCEANC2_ENST00000498272.1_Intron|TCEANC2_ENST00000371331.1_Intron NM_153035.1 NP_694580.1 Q96MN5 TEAN2_HUMAN transcription elongation factor A (SII) N-terminal and central domain containing 2 NA NA transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677) kidney(1)|lung(3)|pancreas(1) 5 TTAATCCTTACGCAATGTAAG 0.418 NA T||| 2904 0.579872 0.8971 0.5692 5008 , , NA 20347 0.6002 NA 0.3956 False NA ,,, NA NA NA 2504 0.3272 NA NA NA NA 0 T 3520,880 1412,696,92 43 52 49 3.7 1 1 dbSNP_116 49 3486,5112 705,2076,1518 no intron TCEANC2 NM_153035.1 2117,2772,1610 TT,TC,CC 40.5443,20.0,46.0994 54561916 7006,5992 2200 4299 6499 SO:0001627 intron_variant AK056674 CCDS587.1 1p32.3 2011-01-25 2011-01-25 2011-01-25 ENSG00000116205 ENSG00000116205 127428 26494 protein-coding gene gene with protein product chromosome 1 open reading frame 83 C1orf83 NA 12477932 Standard NM_153035 NM_153035 NA Approved FLJ32112 uc001cwt.1 Q96MN5 OTTHUMG00000008434 ENST00000234827.1:c.439-42C>T chr1.hg19:g.54561916C>T NA Q5T702|Q8N8N2 hg19 CCDS587.1 0.02 9.258773 TTAxGCA COVERED NOVEL TCEANC2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000023245.1 2 12.339268 KEEP 0 0 0 41 1415 CC 1 1 0 + 9 60 340 0 0 21.853796 218 60 8005 309 ENST00000234827.1 0.039648 1 TCEANC2 127428 __UNKNOWN__ __UNKNOWN__ 1 54563239 54563239 __UNKNOWN__ 3'UTR SNP A A T rs6672905 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:54563239A>T ENST00000234827.1 + 0 1920 TCEANC2_ENST00000498272.1_Intron NM_153035.1 NP_694580.1 Q96MN5 TEAN2_HUMAN transcription elongation factor A (SII) N-terminal and central domain containing 2 NA NA transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677) kidney(1)|lung(3)|pancreas(1) 5 CGGGACTAACATTATTGCCTA 0.353 NA A||| 1495 0.298522 0.1793 0.4597 5008 , , NA 17956 0.3452 NA 0.3559 False NA ,,, NA NA NA 2504 0.2382 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK056674 CCDS587.1 1p32.3 2011-01-25 2011-01-25 2011-01-25 ENSG00000116205 ENSG00000116205 127428 26494 protein-coding gene gene with protein product chromosome 1 open reading frame 83 C1orf83 NA 12477932 Standard NM_153035 NM_153035 NA Approved FLJ32112 uc001cwt.1 Q96MN5 OTTHUMG00000008434 ENST00000234827.1:c.*1093A>T chr1.hg19:g.54563239A>T NA Q5T702|Q8N8N2 hg19 CCDS587.1 0.02 6.273135 AACxTTA COVERED NOVEL TCEANC2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000023245.1 1 13.840496 KEEP 0 0 0 46 1408 AA 1 1 0 + 9 60 332 0 0 22.210946 161 60 5944 260 ENST00000234827.1 0.052941 1 ACOT11 26027 __UNKNOWN__ __UNKNOWN__ 1 55062960 55062960 __UNKNOWN__ Missense_Mutation SNP G G A rs2304305 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:55062960G>A ENST00000343744.2 + 7 718 c.636G>A c.(634-636)atG>atA p.M212I ACOT11_ENST00000371316.3_Missense_Mutation_p.M212I|ACOT11_ENST00000481208.1_3'UTR NM_147161.3 NP_671517.1 Q8WXI4 ACO11_HUMAN acyl-CoA thioesterase 11 212 Acyl coenzyme A hydrolase 2. NA M -> I (in dbSNP:rs2304305). fatty acid metabolic process (GO:0006631)|intracellular signal transduction (GO:0035556)|response to cold (GO:0009409)|response to temperature stimulus (GO:0009266) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062) acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289) NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1) 17 GTAGCCGCATGGTGCCGGCTG 0.622 NA G||| 152 0.0303514 0.0008 0.0288 5008 , , NA 19968 0.125 NA 0.001 False NA ,,, NA NA NA 2504 0.0041 NA NA NA Ovarian(148;1440 1861 22015 32453 51933) NA 0 G ILE/MET,ILE/MET 11,4395 17.9+/-39.9 0,11,2192 71 57 62 636,636 3 0.9 1 dbSNP_100 62 4,8596 5.0+/-18.6 0,4,4296 yes missense,missense ACOT11 NM_015547.3,NM_147161.3 10,10 0,15,6488 AA,AG,GG 0.0465,0.2497,0.1153 benign,benign 212/608,212/595 55062960 15,12991 2203 4300 6503 SO:0001583 missense AB014607 CCDS592.1, CCDS593.1 1p32.3 2011-09-13 2005-09-08 2005-09-08 ENSG00000162390 ENSG00000162390 26027 3.1.2.- Acyl CoA thioesterases, StAR-related lipid transfer (START) domain containing 18156 protein-coding gene gene with protein product StAR-related lipid transfer (START) domain containing 14 606803 thioesterase, adipose associated THEA NA 11696000, 16103133, 16940157 Standard NM_015547 NM_015547 NA Approved STARD14, BFIT, KIAA0707, BFIT1, THEM1 uc001cxl.2 Q8WXI4 OTTHUMG00000009891 ENST00000343744.2:c.636G>A chr1.hg19:g.55062960G>A ENSP00000340260:p.Met212Ile NA B1AQ22|D3DQ50|O75187|Q52LP1|Q53ER9|Q96DI1|Q9H883 hg19 CCDS593.1 0.02 6.596035 CATxGTG COVERED 81 0.03708791208791209 0 0.0 10 0.027624309392265192 70 0.12237762237762238 1 0.0013192612137203166 G 9.785 1.176341 0.21704 0.002497 4.65E-4 ENSG00000162390 ENST00000343744;ENST00000371316 T;T 0.26810 1.71;1.71 4.93 3.0 0.34707 . 0.492807 0.23971 N 0.042767 T 0.00210 0.0006 L 0.27053 0.805 0.23215 N 0.998106 B;B 0.14438 0.01;0.002 B;B 0.14578 0.011;0.009 T 0.22695 -1.0209 10 0.25106 T 0.35 -13.6076 5.6037 0.17367 0.0775:0.1409:0.6359:0.1457 rs2304305;rs61534657;rs2304305 212;212 Q8WXI4;Q8WXI4-2 ACO11_HUMAN;. I 212 ENSP00000340260:M212I;ENSP00000360366:M212I ENSP00000340260:M212I M + 3 0 ACOT11 54835548 0.949000 0.32298 0.945000 0.38365 0.581000 0.36288 1.391000 0.34475 1.046000 0.40249 0.549000 0.68633 ATG NOVEL ACOT11-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000027351.1 2 12.940971 KEEP 0 0 0 43 1552 GG 1 1 0 + 8 60 294 0 0 18.820714 182 60 6921 291 ENST00000343744.2 0.042105 1 MROH7 374977 __UNKNOWN__ __UNKNOWN__ 1 55130931 55130931 __UNKNOWN__ Intron SNP C C T rs2078273 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:55130931C>T ENST00000421030.2 + 4 1590 MROH7_ENST00000339553.5_Intron|MROH7_ENST00000545244.1_Intron|MROH7-TTC4_ENST00000414150.2_Intron|MROH7_ENST00000454855.2_Intron|MROH7_ENST00000395690.2_Intron|MROH7_ENST00000409996.1_Intron NM_001039464.2 NP_001034553 Q68CQ1 MROH7_HUMAN maestro heat-like repeat family member 7 NA NA extracellular space (GO:0005615)|integral component of membrane (GO:0016021) NA TCCTGCCCAACCCCTAGCTGA 0.597 NA C||| 1746 0.348642 0.1868 0.3098 5008 , , NA 17263 0.5258 NA 0.4324 False NA ,,, NA NA NA 2504 0.3262 NA NA NA NA 0 C 900,3368 116,668,1350 83 88 86 -6.3 0 1 dbSNP_96 86 3505,4985 720,2065,1460 no intron HEATR8 NM_001039464.2 836,2733,2810 TT,TC,CC 41.2839,21.0872,34.5274 55130931 4405,8353 2134 4245 6379 SO:0001627 intron_variant AL832492 CCDS41342.2 1p32.3 2012-12-19 2012-12-19 2012-12-19 ENSG00000184313 ENSG00000184313 374977 maestro heat-like repeat containing 24802 protein-coding gene gene with protein product chromosome 1 open reading frame 175, HEAT repeat containing 8 C1orf175, HEATR8 NA 12477932 Standard NM_198547 NM_001039464 NA Approved FLJ46354 uc010ooe.1 Q68CQ1 OTTHUMG00000009890 ENST00000421030.2:c.1305+18C>T chr1.hg19:g.55130931C>T NA A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14 hg19 CCDS41342.2 0.02 6.975109 CAAxCCC COVERED NOVEL MROH7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000346978.1 0 6.922587 KEEP 0 0 0 23 811 CC 0.999892 0.999892 0 + 9 60 297 0 0 18.541466 170 60 6147 229 ENST00000421030.2 0.050279 1 TTC4 7268 __UNKNOWN__ __UNKNOWN__ 1 55197149 55197149 __UNKNOWN__ Intron SNP T T C rs3815226 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:55197149T>C ENST00000371284.5 + 7 847 MROH7-TTC4_ENST00000414150.2_Intron|TTC4_ENST00000371281.3_Intron O95801 TTC4_HUMAN tetratricopeptide repeat domain 4 NA NA breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1) 9 TGTTTCTGTCTTTAACCCAGG 0.423 NA T||| 1278 0.255192 0.0333 0.3559 5008 , , NA 18238 0.5347 NA 0.2018 False NA ,,, NA NA NA 2504 0.2505 NA NA NA NA 0 T 298,4108 157.0+/-190.0 7,284,1912 45 41 43 1.7 0.1 1 dbSNP_107 43 1726,6874 297.4+/-303.4 169,1388,2743 no intron TTC4 NM_004623.4 176,1672,4655 CC,CT,TT 20.0698,6.7635,15.562 55197149 2024,10982 2203 4300 6503 SO:0001627 intron_variant CCDS596.1 1p32 2013-01-11 ENSG00000243725 ENSG00000243725 7268 Tetratricopeptide (TTC) repeat domain containing 12394 protein-coding gene gene with protein product 606753 NA 9933562 Standard NM_004623 NM_004623 NA Approved MGC5097, FLJ41930 uc001cxx.4 O95801 OTTHUMG00000009914 ENST00000371284.5:c.848-10T>C chr1.hg19:g.55197149T>C NA Q53Y95|Q5TA96|Q9H3I2 hg19 0.02 11.646279 GTCxTTA COVERED NOVEL TTC4-002 KNOWN non_canonical_TEC|basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000027433.2 1 19.259085 KEEP 0 0 0 64 2069 TT 1 1 0 + 8 60 316 0 0 19.594898 276 60 10372 449 ENST00000371284.5 0.028169 1 TTC22 55001 __UNKNOWN__ __UNKNOWN__ 1 55266600 55266600 __UNKNOWN__ Silent SNP C C T rs72671847 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:55266600C>T ENST00000371276.4 - 1 340 c.237G>A c.(235-237)ctG>ctA p.L79L TTC22_ENST00000371274.4_Silent_p.L79L NM_001114108.1 NP_001107580.1 Q5TAA0 TTC22_HUMAN tetratricopeptide repeat domain 22 79 NA kidney(1)|large_intestine(1)|lung(7)|skin(1) 10 CCAGCTCCTCCAGGTAGAATG 0.701 NA C||| 183 0.0365415 0.0 0.0159 5008 , , NA 12997 0.127 NA 0.005 False NA ,,, NA NA NA 2504 0.0399 NA NA NA NA 0 C , 10,4364 0,10,2177 11 13 12 237,237 3.4 1 1 dbSNP_130 12 25,8551 0,25,4263 no coding-synonymous,coding-synonymous TTC22 NM_001114108.1,NM_017904.3 , 0,35,6440 TT,TC,CC 0.2915,0.2286,0.2703 , 79/570,79/373 55266600 35,12915 2187 4288 6475 SO:0001819 synonymous_variant AK000626 CCDS598.1, CCDS44152.1 1p32.3 2013-01-11 ENSG00000006555 ENSG00000006555 55001 Tetratricopeptide (TTC) repeat domain containing 26067 protein-coding gene gene with protein product NA Standard NM_017904 NM_017904 NA Approved FLJ20619 uc009vzt.1 Q5TAA0 OTTHUMG00000009916 ENST00000371276.4:c.237G>A chr1.hg19:g.55266600C>T NA Q9NWT4 hg19 CCDS44152.1 0.02 6.718839 CTCxAGG COVERED NOVEL TTC22-002 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000027438.1 2 15.951841 KEEP 0 0 0 53 1883 CC 1 1 0 - 7 60 250 0 0 15.585088 168 60 6429 294 ENST00000371276.4 0.04 1 C1orf177 163747 __UNKNOWN__ __UNKNOWN__ 1 55277514 55277514 __UNKNOWN__ Silent SNP C C T rs72671882 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:55277514C>T ENST00000371273.3 + 5 543 c.528C>T c.(526-528)taC>taT p.Y176Y C1orf177_ENST00000358193.3_Silent_p.Y176Y NM_001110533.1 NP_001104003 Q3ZCV2 CA177_HUMAN chromosome 1 open reading frame 177 176 NA breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2) 17 GTAACCCATACACCAAGCTGG 0.587 NA C||| 200 0.0399361 0.0 0.0346 5008 , , NA 16765 0.1319 NA 0.005 False NA ,,, NA NA NA 2504 0.0389 NA NA NA NA 0 C , 16,4390 24.3+/-50.5 0,16,2187 74 69 71 528,528 5.1 1 1 dbSNP_130 71 37,8563 25.1+/-72.6 0,37,4263 no coding-synonymous,coding-synonymous C1orf177 NM_001110533.1,NM_152607.2 , 0,53,6450 TT,TC,CC 0.4302,0.3631,0.4075 , 176/419,176/415 55277514 53,12953 2203 4300 6503 SO:0001819 synonymous_variant AK097520 CCDS599.1, CCDS44153.1 1p32.3 2012-07-25 ENSG00000162398 ENSG00000162398 163747 26854 protein-coding gene gene with protein product NA Standard NM_152607 NM_152607 NA Approved FLJ40201 uc001cyb.4 Q3ZCV2 OTTHUMG00000009986 ENST00000371273.3:c.528C>T chr1.hg19:g.55277514C>T NA B7WPL2|Q8N7Y9 hg19 CCDS44153.1 0.02 4.372224 ATAxACC COVERED NOVEL C1orf177-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000027674.1 0 8.728164 KEEP 0 0 0 29 1000 CC 0.999997 0.999975 0 + 5 60 184 0 0 12.101706 98 60 3566 158 ENST00000371273.3 0.048544 0.999978 DHCR24 1718 __UNKNOWN__ __UNKNOWN__ 1 55315611 55315611 __UNKNOWN__ 3'UTR SNP C C G rs7373 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:55315611C>G ENST00000371269.3 - 0 3944 NM_014762.3 NP_055577.1 Q15392 DHC24_HUMAN 24-dehydrocholesterol reductase NA NA amyloid precursor protein catabolic process (GO:0042987)|apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cholesterol biosynthetic process (GO:0006695)|male genitalia development (GO:0030539)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|oxidation-reduction process (GO:0055114)|plasminogen activation (GO:0031639)|protein localization (GO:0008104)|Ras protein signal transduction (GO:0007265)|regulation of neuron death (GO:1901214)|response to hormone (GO:0009725)|response to oxidative stress (GO:0006979)|skin development (GO:0043588)|small molecule metabolic process (GO:0044281)|tissue development (GO:0009888) cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634) delta24(24-1) sterol reductase activity (GO:0000246)|delta24-sterol reductase activity (GO:0050614)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|peptide antigen binding (GO:0042605)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762) large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1) 7 GAGGGGAGAGCCTTACTCTGA 0.463 NA G||| 2183 0.435903 0.6021 0.4337 5008 , , NA 19842 0.5833 NA 0.3231 False NA ,,, NA NA NA 2504 0.1769 NA NA NA Pancreas(39;516 1021 24601 30715 32780) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF261758 CCDS600.1 1p32.3 2008-02-05 ENSG00000116133 ENSG00000116133 1718 2859 protein-coding gene gene with protein product 606418 NA 11519011 Standard NM_014762 NM_014762 NA Approved KIAA0018, seladin-1 uc001cyc.1 Q15392 OTTHUMG00000009989 ENST00000371269.3:c.*2295G>C chr1.hg19:g.55315611C>G NA B7Z817|D3DQ51|Q9HBA8 hg19 CCDS600.1 0.02 6.961863 GAGxCTT COVERED NOVEL DHCR24-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000027680.1 1 6.615736 KEEP 0 0 0 22 769 CC 0.999879 0.999879 0 - 8 60 300 1 0 20.034227 152 60 5521 214 ENST00000371269.3 0.05 1 DHCR24 1718 __UNKNOWN__ __UNKNOWN__ 1 55318108 55318108 __UNKNOWN__ Intron SNP C C T rs667222 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:55318108C>T ENST00000371269.3 - 9 1496 DHCR24_ENST00000537443.1_Intron|DHCR24_ENST00000535035.1_Intron NM_014762.3 NP_055577.1 Q15392 DHC24_HUMAN 24-dehydrocholesterol reductase NA NA amyloid precursor protein catabolic process (GO:0042987)|apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cholesterol biosynthetic process (GO:0006695)|male genitalia development (GO:0030539)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|oxidation-reduction process (GO:0055114)|plasminogen activation (GO:0031639)|protein localization (GO:0008104)|Ras protein signal transduction (GO:0007265)|regulation of neuron death (GO:1901214)|response to hormone (GO:0009725)|response to oxidative stress (GO:0006979)|skin development (GO:0043588)|small molecule metabolic process (GO:0044281)|tissue development (GO:0009888) cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634) delta24(24-1) sterol reductase activity (GO:0000246)|delta24-sterol reductase activity (GO:0050614)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|peptide antigen binding (GO:0042605)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762) large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1) 7 ACACGGAACGCGAGGCGTGAG 0.547 NA C||| 1866 0.372604 0.3737 0.4179 5008 , , NA 19632 0.5833 NA 0.3191 False NA ,,, NA NA NA 2504 0.1769 NA NA NA Pancreas(39;516 1021 24601 30715 32780) NA 0 C 1695,2711 511.4+/-367.8 329,1037,837 47 42 44 -2.4 0 1 dbSNP_83 44 2640,5960 423.9+/-354.5 428,1784,2088 no intron DHCR24 NM_014762.3 757,2821,2925 TT,TC,CC 30.6977,38.4703,33.3308 55318108 4335,8671 2203 4300 6503 SO:0001627 intron_variant AF261758 CCDS600.1 1p32.3 2008-02-05 ENSG00000116133 ENSG00000116133 1718 2859 protein-coding gene gene with protein product 606418 NA 11519011 Standard NM_014762 NM_014762 NA Approved KIAA0018, seladin-1 uc001cyc.1 Q15392 OTTHUMG00000009989 ENST00000371269.3:c.1398-49G>A chr1.hg19:g.55318108C>T NA B7Z817|D3DQ51|Q9HBA8 hg19 CCDS600.1 0.02 1.737179 ACGxGAG COVERED NOVEL DHCR24-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000027680.1 0 4.814807 KEEP 0 0 0 16 518 CC 0.997832 0.997771 0 - 4 60 141 0 0 8.773585 93 60 3007 121 ENST00000371269.3 0.041237 0.99994 USP24 23358 __UNKNOWN__ __UNKNOWN__ 1 55533231 55533231 __UNKNOWN__ 3'UTR SNP T T C rs574924751 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:55533231T>C ENST00000294383.6 - 0 9349 USP24_ENST00000407756.1_3'UTR NM_015306.2 NP_056121.2 Q9UPU5 UBP24_HUMAN ubiquitin specific peptidase 24 NA NA ubiquitin-dependent protein catabolic process (GO:0006511) cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459) breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 60 GACTGGGCCATGGCGAGAGCA 0.542 NA T||| 1 0.000199681 0.0 0.0 5008 , , NA 19821 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB028980 CCDS44154.1, CCDS44154.2 1p32.3 2008-04-11 2005-08-08 ENSG00000162402 ENSG00000162402 23358 Ubiquitin-specific peptidases 12623 protein-coding gene gene with protein product 610569 ubiquitin specific protease 24 NA 12838346 Standard NM_015306 NA Approved KIAA1057 uc021onw.1 Q9UPU5 OTTHUMG00000008135 ENST00000294383.6:c.*1487A>G chr1.hg19:g.55533231T>C NA Q6ZSY2|Q8N2Y4|Q9NXD1 hg19 CCDS44154.2 0.02 8.45871 CCAxGGC COVERED NOVEL USP24-001 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000022275.2 2 15.945727 KEEP 0 0 0 53 1622 TT 1 1 0 - 10 60 344 0 0 21.604044 206 60 7377 307 ENST00000294383.6 0.046296 1 PRKAA2 5563 __UNKNOWN__ __UNKNOWN__ 1 57178926 57178926 __UNKNOWN__ 3'UTR SNP T T G rs3738567 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:57178926T>G ENST00000371244.4 + 0 7265 NM_006252.3 NP_006243.2 P54646 AAPK2_HUMAN protein kinase, AMP-activated, alpha 2 catalytic subunit NA NA autophagy (GO:0006914)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|cellular response to glucose starvation (GO:0042149)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of glycolytic process (GO:0045821)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055) cytosol (GO:0005829)|nucleoplasm (GO:0005654) [acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712) breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1) 23 Acetylsalicylic acid(DB00945) AACTTCTTCATCCATAGCCTG 0.388 NA G||| 2676 0.534345 0.7511 0.3501 5008 , , NA 15885 0.5437 NA 0.2654 False NA ,,, NA NA NA 2504 0.6391 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC069823 CCDS605.1 1p31 2011-08-25 ENSG00000162409 ENSG00000162409 5563 9377 protein-coding gene gene with protein product 600497 PRKAA NA 7959015 Standard NM_006252 NM_006252 NA Approved AMPK, AMPKa2 uc001cyk.4 P54646 OTTHUMG00000008282 ENST00000371244.4:c.*5540T>G chr1.hg19:g.57178926T>G NA Q9H1E8|Q9UD43 hg19 CCDS605.1 0.02 4.176617 TCAxCCA COVERED NOVEL PRKAA2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000022753.2 1 3.90929 KEEP 0 0 0 13 387 TT 0.994391 0.994387 0 + 5 60 184 0 0 11.877806 109 60 3889 142 ENST00000371244.4 0.04386 0.999997 C1orf168 199920 __UNKNOWN__ __UNKNOWN__ 1 57209695 57209695 __UNKNOWN__ Intron SNP T T C rs1156845 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:57209695T>C ENST00000343433.6 - 11 1624 C1orf168_ENST00000484327.1_Intron NM_001004303.4 NP_001004303.3 Q5VWT5 CA168_HUMAN chromosome 1 open reading frame 168 NA NA NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2) 46 CTTCCTATACTTACCACTACT 0.348 NA T||| 693 0.138379 0.0477 0.2421 5008 , , NA 21144 0.2004 NA 0.1243 False NA ,,, NA NA NA 2504 0.138 NA NA NA NA 0 T 275,4131 151.0+/-185.0 6,263,1934 114 108 110 3 1 1 dbSNP_87 110 1150,7448 231.5+/-265.5 92,966,3241 no intron C1orf168 NM_001004303.4 98,1229,5175 CC,CT,TT 13.3752,6.2415,10.9582 57209695 1425,11579 2203 4299 6502 SO:0001627 intron_variant BX648439 CCDS30729.1 1p32.2 2011-02-22 ENSG00000187889 ENSG00000187889 199920 27295 protein-coding gene gene with protein product NA 14702039 Standard NM_001004303 NM_001004303 NA Approved RP4-758N20.2, FLJ43208 uc001cym.4 Q5VWT5 OTTHUMG00000008281 ENST00000343433.6:c.1543+3A>G chr1.hg19:g.57209695T>C NA Q63HM3|Q6ZUY6 hg19 CCDS30729.1 0.02 4.760616 TACxTAC COVERED NOVEL C1orf168-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000022751.2 0 4.813673 KEEP 0 0 0 16 490 TT 0.997832 0.997831 0 - 5 60 190 0 0 12.236507 122 60 4616 166 ENST00000343433.6 0.03937 1 FGGY 55277 __UNKNOWN__ __UNKNOWN__ 1 59922771 59922771 __UNKNOWN__ Intron SNP G G C rs12039820 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:59922771G>C ENST00000371218.4 + 6 854 FGGY_ENST00000474476.1_Intron|FGGY_ENST00000303721.7_Intron|FGGY_ENST00000371212.1_Intron NM_001113411.1 NP_001106882.1 Q96C11 FGGY_HUMAN FGGY carbohydrate kinase domain containing NA NA carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|neuron cellular homeostasis (GO:0070050) kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 22 all_cancers(7;7.36e-05) AACATCTGTAGAGTGATTATG 0.353 NA G||| 174 0.0347444 0.0 0.0 5008 , , NA 20871 0.1716 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 G , 2,4404 4.2+/-10.8 0,2,2201 60 62 61 , 0.9 0 1 dbSNP_120 61 0,8600 0,0,4300 no intron,intron FGGY NM_001113411.1,NM_018291.3 , 0,2,6501 CC,CG,GG 0.0,0.0454,0.0154 , , 59922771 2,13004 2203 4300 6503 SO:0001627 intron_variant CCDS611.2, CCDS44155.1, CCDS58003.1, CCDS60155.1 1p32.1 2008-10-23 ENSG00000172456 ENSG00000172456 55277 25610 protein-coding gene gene with protein product 611370 NA 17671248 Standard NM_001113411 NM_018291 NA Approved FLJ10986 uc009wac.3 Q96C11 OTTHUMG00000008424 ENST00000371218.4:c.670+23G>C chr1.hg19:g.59922771G>C NA B1AK92|B1AK93|B1AK94|B2RDR8|D3DQ56|Q9HA63|Q9NV20 hg19 CCDS44155.1 0.02 4.340323 GTAxAGT COVERED NOVEL FGGY-005 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000023206.2 0 8.425956 KEEP 0 0 0 28 926 GG 0.999997 0.999995 0 + 5 60 192 0 0 12.598488 113 60 4262 157 ENST00000371218.4 0.042373 0.999998 C1orf87 127795 __UNKNOWN__ __UNKNOWN__ 1 60474375 60474375 __UNKNOWN__ Intron SNP C C T rs17119974 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:60474375C>T ENST00000371201.3 - 9 1300 C1orf87_ENST00000450089.2_Intron|C1orf87_ENST00000486478.1_5'UTR|C1orf87_ENST00000395552.1_Silent_p.T13T NM_152377.2 NP_689590.1 Q8N0U7 CA087_HUMAN chromosome 1 open reading frame 87 NA NA calcium ion binding (GO:0005509) breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 GCCCTAGCCACGTGTGAAACC 0.458 NA C||| 631 0.125998 0.0862 0.2017 5008 , , NA 22069 0.1389 NA 0.1541 False NA ,,, NA NA NA 2504 0.0838 NA NA NA NSCLC(75;811 1386 4923 13371 51772) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK124828 CCDS614.1 1p32.1 2014-04-03 ENSG00000162598 ENSG00000162598 127795 28547 protein-coding gene gene with protein product carcinoma-related EF-hand protein NA 12477932 Standard NM_152377 NM_152377 NA Approved MGC34837, CREF uc001czs.2 Q8N0U7 OTTHUMG00000008992 ENST00000371201.3:c.1192+1688G>A chr1.hg19:g.60474375C>T NA Q6ZU07|Q8IVS0 hg19 CCDS614.1 0.02 6.46822 CCAxGTG COVERED NOVEL C1orf87-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000024943.1 1 9.930568 KEEP 0 0 0 33 1127 CC 0.999998 0.999998 0 - 8 60 303 0 0 19.871817 174 60 6044 261 ENST00000371201.3 0.043956 1 C1orf87 127795 __UNKNOWN__ __UNKNOWN__ 1 60503594 60503594 __UNKNOWN__ Intron SNP C C T rs72669614|rs35390476 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:60503594C>T ENST00000371201.3 - 6 971 C1orf87_ENST00000450089.2_Intron NM_152377.2 NP_689590.1 Q8N0U7 CA087_HUMAN chromosome 1 open reading frame 87 NA NA calcium ion binding (GO:0005509) breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 gtttatggtacttttttatag 0.423 NA C||| 610 0.121805 0.0325 0.1974 5008 , , NA 18246 0.2103 NA 0.1402 False NA ,,, NA NA NA 2504 0.0787 NA NA NA NSCLC(75;811 1386 4923 13371 51772) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK124828 CCDS614.1 1p32.1 2014-04-03 ENSG00000162598 ENSG00000162598 127795 28547 protein-coding gene gene with protein product carcinoma-related EF-hand protein NA 12477932 Standard NM_152377 NM_152377 NA Approved MGC34837, CREF uc001czs.2 Q8N0U7 OTTHUMG00000008992 ENST00000371201.3:c.863+69G>A chr1.hg19:g.60503594C>T NA Q6ZU07|Q8IVS0 hg19 CCDS614.1 0.02 2.01052 GTAxTTT COVERED NOVEL C1orf87-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000024943.1 1 2.40773 KEEP 0 0 0 8 283 CC 0.99257 0.992533 0 - 4 60 159 0 0 10.517027 96 60 3490 114 ENST00000371201.3 0.04 0.999962 C1orf87 127795 __UNKNOWN__ __UNKNOWN__ 1 60505783 60505783 __UNKNOWN__ Missense_Mutation SNP G G C rs12737449 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:60505783G>C ENST00000371201.3 - 5 660 c.553C>G c.(553-555)Ctc>Gtc p.L185V C1orf87_ENST00000450089.2_Intron NM_152377.2 NP_689590.1 Q8N0U7 CA087_HUMAN chromosome 1 open reading frame 87 185 NA L -> V (in dbSNP:rs12737449). calcium ion binding (GO:0005509) breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 CGTGACTTGAGTTCTCTTCTG 0.428 NA G||| 595 0.11881 0.031 0.1974 5008 , , NA 19254 0.2192 NA 0.1252 False NA ,,, NA NA NA 2504 0.0716 NA NA NA NSCLC(75;811 1386 4923 13371 51772) NA 0 G VAL/LEU 189,4217 123.7+/-161.0 4,181,2018 99 108 105 553 3.2 1 1 dbSNP_121 105 1250,7350 249.9+/-277.0 105,1040,3155 yes missense C1orf87 NM_152377.2 32 109,1221,5173 CC,CG,GG 14.5349,4.2896,11.0641 possibly-damaging 185/547 60505783 1439,11567 2203 4300 6503 SO:0001583 missense AK124828 CCDS614.1 1p32.1 2014-04-03 ENSG00000162598 ENSG00000162598 127795 28547 protein-coding gene gene with protein product carcinoma-related EF-hand protein NA 12477932 Standard NM_152377 NM_152377 NA Approved MGC34837, CREF uc001czs.2 Q8N0U7 OTTHUMG00000008992 ENST00000371201.3:c.553C>G chr1.hg19:g.60505783G>C ENSP00000360244:p.Leu185Val NA Q6ZU07|Q8IVS0 hg19 CCDS614.1 0.02 10.98626 TGAxTTC COVERED 329 0.15064102564102563 30 0.06097560975609756 72 0.19889502762430938 115 0.20104895104895104 112 0.14775725593667546 G 10.05 1.244424 0.22796 0.042896 0.145349 ENSG00000162598 ENST00000371201 T 0.27402 1.67 5.18 3.18 0.36537 . 0.139058 0.33457 N 0.004884 T 0.00039 0.0001 L 0.59436 1.845 0.09310 P 0.999999999762251 D 0.56035 0.974 P 0.54499 0.754 T 0.05146 -1.0903 9 0.54805 T 0.06 -4.5613 8.6836 0.34223 0.1995:0.0:0.8005:0.0 rs12737449;rs52823537;rs12737449 185 Q8N0U7 CA087_HUMAN V 185 ENSP00000360244:L185V ENSP00000360244:L185V L - 1 0 C1orf87 60278371 1.000000 0.71417 0.997000 0.53966 0.209000 0.24338 1.686000 0.37669 1.433000 0.47394 0.650000 0.86243 CTC NOVEL C1orf87-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000024943.1 3 10.534467 KEEP 0 0 0 35 1255 GG 0.999999 0.999999 0 - 8 60 299 0 0 17.81423 283 60 10594 378 ENST00000371201.3 0.027491 1 INADL 10207 __UNKNOWN__ __UNKNOWN__ 1 62579823 62579823 __UNKNOWN__ Silent SNP G G A rs1475563 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:62579823G>A ENST00000371158.2 + 35 4674 c.4560G>A c.(4558-4560)gaG>gaA p.E1520E INADL_ENST00000543708.1_Silent_p.E334E|INADL_ENST00000316485.6_Silent_p.E1550E|INADL_ENST00000545929.1_Silent_p.E165E NM_176877.2 NP_795352 Q8NI35 INADL_HUMAN InaD-like (Drosophila) 1520 PDZ 8. {ECO:0000255|PROSITE- ProRule:PRU00143}. NA cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830) apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923) breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3) 103 ATAGAGATGAGGCACACTACC 0.567 NA G||| 3050 0.609026 0.4206 0.7161 5008 , , NA 16626 0.754 NA 0.66 False NA ,,, NA NA NA 2504 0.5859 NA NA NA NA 0 G 2062,2344 568.4+/-382.4 473,1116,614 82 78 80 4560 0.5 0 1 dbSNP_88 80 6007,2593 688.6+/-404.3 2086,1835,379 no coding-synonymous INADL NM_176877.2 2559,2951,993 AA,AG,GG 30.1512,46.7998,37.9594 1520/1802 62579823 8069,4937 2203 4300 6503 SO:0001819 synonymous_variant AB044807 CCDS617.2 1p31 2008-02-05 ENSG00000132849 ENSG00000132849 10207 28881 protein-coding gene gene with protein product 603199 NA 9280290, 11374908 Standard NM_170605 NM_176877 NA Approved Cipp, PATJ uc001dab.3 Q8NI35 OTTHUMG00000008560 ENST00000371158.2:c.4560G>A chr1.hg19:g.62579823G>A NA O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9 hg19 CCDS617.2 0.02 14.284661 TGAxGCA COVERED NOVEL INADL-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000023639.2 2 16.838555 KEEP 0 0 0 56 1965 GG 1 1 0 + 13 60 460 0 0 27.620172 367 60 13222 521 ENST00000371158.2 0.034211 1 INADL 10207 __UNKNOWN__ __UNKNOWN__ 1 62579907 62579907 __UNKNOWN__ Silent SNP C C T rs7418709 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:62579907C>T ENST00000371158.2 + 35 4758 c.4644C>T c.(4642-4644)atC>atT p.I1548I INADL_ENST00000543708.1_Silent_p.I362I|INADL_ENST00000316485.6_Silent_p.I1578I|INADL_ENST00000545929.1_Silent_p.I193I NM_176877.2 NP_795352 Q8NI35 INADL_HUMAN InaD-like (Drosophila) 1548 PDZ 9. {ECO:0000255|PROSITE- ProRule:PRU00143}. NA cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830) apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923) breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3) 103 GCCTGAGCATCGTTGGGAAAC 0.512 NA C||| 1490 0.297524 0.2791 0.2291 5008 , , NA 18642 0.7113 NA 0.0696 False NA ,,, NA NA NA 2504 0.1789 NA NA NA NA 0 C 1137,3269 404.9+/-333.3 157,823,1223 54 58 56 4644 -0.8 0.9 1 dbSNP_116 56 762,7838 182.0+/-230.6 39,684,3577 no coding-synonymous INADL NM_176877.2 196,1507,4800 TT,TC,CC 8.8605,25.8057,14.601 1548/1802 62579907 1899,11107 2203 4300 6503 SO:0001819 synonymous_variant AB044807 CCDS617.2 1p31 2008-02-05 ENSG00000132849 ENSG00000132849 10207 28881 protein-coding gene gene with protein product 603199 NA 9280290, 11374908 Standard NM_170605 NM_176877 NA Approved Cipp, PATJ uc001dab.3 Q8NI35 OTTHUMG00000008560 ENST00000371158.2:c.4644C>T chr1.hg19:g.62579907C>T NA O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9 hg19 CCDS617.2 0.02 25.091954 CATxGTT COVERED NOVEL INADL-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000023639.2 1 33.337758 KEEP 0 1 29 121 4053 CC 1 1 0 + 17 60 626 0 0 36.591934 629 60 22990 957 ENST00000371158.2 0.026316 1 ATG4C 84938 __UNKNOWN__ __UNKNOWN__ 1 63330217 63330217 __UNKNOWN__ 3'UTR SNP G G A rs3211074|rs386631790 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:63330217G>A ENST00000317868.4 + 0 1971 ATG4C_ENST00000371120.3_3'UTR NM_032852.3 NP_116241.2 Q96DT6 ATG4C_HUMAN autophagy related 4C, cysteine peptidase NA NA autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|protein targeting to membrane (GO:0006612)|proteolysis (GO:0006508) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576) cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233) ATG4C/FBXO38(2) NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(3)|ovary(1)|prostate(2) 19 AGTTTGTACTGAAGACCAGAA 0.378 NA A||| 2439 0.487021 0.4508 0.4928 5008 , , NA 16192 0.6637 NA 0.4443 False NA ,,, NA NA NA 2504 0.3937 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK027773 CCDS623.1 1p31.3 2014-02-12 2012-06-06 2005-09-11 ENSG00000125703 ENSG00000125703 84938 16040 protein-coding gene gene with protein product 611339 AUT (S. cerevisiae)-like 1, cysteine endopeptidase; AUT-like 1, cysteine endopeptidase (S. cerevisiae), APG4 autophagy 4 homolog C (S. cerevisiae), ATG4 autophagy related 4 homolog C (S. cerevisiae) AUTL1, APG4C NA 12446702 Standard NM_032852 NM_032852 NA Approved FLJ14867, AUTL3 uc001dau.3 Q96DT6 OTTHUMG00000009142 ENST00000317868.4:c.*387G>A chr1.hg19:g.63330217G>A NA A6NLR8|D3DQ58|Q96K04 hg19 CCDS623.1 0.02 8.336681 ACTxAAG COVERED NOVEL ATG4C-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000025332.2 3 8.126399 KEEP 0 0 0 27 956 GG 0.999988 0.999988 0 + 7 60 251 0 0 15.164527 200 60 7588 276 ENST00000317868.4 0.033816 1 PGM1 5236 __UNKNOWN__ __UNKNOWN__ 1 64117537 64117537 __UNKNOWN__ Intron SNP G G T rs2269238 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:64117537G>T ENST00000371084.3 + 9 1677 PGM1_ENST00000483707.1_Intron|PGM1_ENST00000371083.4_Intron|PGM1_ENST00000540265.1_Intron NM_002633.2 NP_002624.2 P36871 PGM1_HUMAN phosphoglucomutase 1 NA NA carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614) breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 GAAACAGACCGGTGTGTAAGT 0.413 NA T||| 1383 0.276158 0.3812 0.4063 5008 , , NA 20637 0.2063 NA 0.2237 False NA ,,, NA NA NA 2504 0.1677 NA NA NA NA 0 T ,, 1386,3020 687.5+/-404.9 215,956,1032 69 69 69 ,, 1.9 0 1 dbSNP_100 69 1580,7020 743.3+/-407.2 140,1300,2860 no intron,intron,intron PGM1 NM_001172818.1,NM_001172819.1,NM_002633.2 ,, 355,2256,3892 TT,TG,GG 18.3721,31.4571,22.8049 ,, ,, 64117537 2966,10040 2203 4300 6503 SO:0001627 intron_variant BC019920 CCDS625.1, CCDS53323.1, CCDS53324.1 1p22.1 2012-10-02 ENSG00000079739 ENSG00000079739 5236 5.4.2.2 8905 protein-coding gene gene with protein product 171900 NA 4517931, 1530890 Standard NM_002633 NM_002633 NA Approved uc010ooz.2 P36871 OTTHUMG00000008968 ENST00000371084.3:c.1464+14G>T chr1.hg19:g.64117537G>T NA B2R5N9|B4DPV0|Q16105|Q16106|Q5BKZ9|Q6NW22|Q86U74|Q96J40|Q9NTY4 hg19 CCDS625.1 0.02 11.281991 ACCxGTG COVERED NOVEL PGM1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000024868.1 1 19.863982 KEEP 0 0 0 66 2269 GG 1 1 0 + 10 60 382 0 0 24.241298 270 60 9673 430 ENST00000371084.3 0.035714 1 PGM1 5236 __UNKNOWN__ __UNKNOWN__ 1 64125368 64125368 __UNKNOWN__ 3'UTR SNP C C T rs8294 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:64125368C>T ENST00000371084.3 + 0 1924 PGM1_ENST00000371083.4_3'UTR|PGM1_ENST00000540265.1_3'UTR NM_002633.2 NP_002624.2 P36871 PGM1_HUMAN phosphoglucomutase 1 NA NA carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614) breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 TGATGTGGTACGTCCCTCCAC 0.493 NA C||| 924 0.184505 0.0635 0.3329 5008 , , NA 20057 0.2212 NA 0.2336 False NA ,,, NA NA NA 2504 0.1544 NA NA NA NA 0 C ,, 384,4022 194.7+/-219.5 14,356,1833 109 90 96 ,, 2.2 1 1 dbSNP_52 96 1566,7034 293.5+/-301.4 135,1296,2869 no utr-3,utr-3,utr-3 PGM1 NM_001172818.1,NM_001172819.1,NM_002633.2 ,, 149,1652,4702 TT,TC,CC 18.2093,8.7154,14.9931 ,, ,, 64125368 1950,11056 2203 4300 6503 SO:0001624 3_prime_UTR_variant BC019920 CCDS625.1, CCDS53323.1, CCDS53324.1 1p22.1 2012-10-02 ENSG00000079739 ENSG00000079739 5236 5.4.2.2 8905 protein-coding gene gene with protein product 171900 NA 4517931, 1530890 Standard NM_002633 NM_002633 NA Approved uc010ooz.2 P36871 OTTHUMG00000008968 ENST00000371084.3:c.*22C>T chr1.hg19:g.64125368C>T NA B2R5N9|B4DPV0|Q16105|Q16106|Q5BKZ9|Q6NW22|Q86U74|Q96J40|Q9NTY4 hg19 CCDS625.1 0.02 25.084074 GTAxGTC COVERED NOVEL PGM1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000024868.1 1 33.386471 KEEP 0 0 0 111 3840 CC 1 1 0 + 22 60 742 0 0 43.456853 601 60 21400 928 ENST00000371084.3 0.035313 1 ROR1 4919 __UNKNOWN__ __UNKNOWN__ 1 64624842 64624842 __UNKNOWN__ Silent SNP A A G rs6668545 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:64624842A>G ENST00000371079.1 + 8 1728 c.1353A>G c.(1351-1353)gtA>gtG p.V451V RP11-24J23.2_ENST00000424995.1_RNA|ROR1_ENST00000545203.1_5'UTR NM_005012.3 NP_005003.2 Q01973 ROR1_HUMAN receptor tyrosine kinase-like orphan receptor 1 451 NA peptidyl-tyrosine phosphorylation (GO:0018108)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147) breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 51 GTCAAAATGTAGAGATGTCAA 0.433 NA A||| 1732 0.345847 0.2171 0.3588 5008 , , NA 20829 0.4127 NA 0.3966 False NA ,,, NA NA NA 2504 0.3896 NA NA NA NA 0 A 1002,3404 373.4+/-320.8 115,772,1316 178 157 165 1353 -10.2 0.3 1 dbSNP_116 165 3162,5438 479.3+/-370.1 594,1974,1732 no coding-synonymous ROR1 NM_005012.2 709,2746,3048 GG,GA,AA 36.7674,22.7417,32.016 451/938 64624842 4164,8842 2203 4300 6503 SO:0001819 synonymous_variant M97675 CCDS626.1, CCDS41344.1 1p32-p31 2013-01-11 ENSG00000185483 ENSG00000185483 4919 Immunoglobulin superfamily / I-set domain containing 10256 protein-coding gene gene with protein product 602336 NTRKR1 NA 1334494, 8875995 Standard NM_005012 NM_001083592 NA Approved uc001dbj.3 Q01973 OTTHUMG00000009022 ENST00000371079.1:c.1353A>G chr1.hg19:g.64624842A>G NA Q5VVX6|Q66K77|Q92776 hg19 CCDS626.1 0.02 17.154793 TGTxGAG COVERED NOVEL ROR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000025002.1 3 19.193511 KEEP 0 1 38 77 2399 AA 1 1 0 + 12 60 464 0 0 29.286024 348 60 12915 548 ENST00000371079.1 0.033333 1 ROR1 4919 __UNKNOWN__ __UNKNOWN__ 1 64643277 64643277 __UNKNOWN__ Missense_Mutation SNP C C T rs7527017 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:64643277C>T ENST00000371079.1 + 9 1928 c.1553C>T c.(1552-1554)aCg>aTg p.T518M ROR1_ENST00000545203.1_5'UTR NM_005012.3 NP_005003.2 Q01973 ROR1_HUMAN receptor tyrosine kinase-like orphan receptor 1 518 Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}. NA T -> M (in dbSNP:rs7527017). {ECO:0000269|PubMed:1334494, ECO:0000269|PubMed:17344846}. peptidyl-tyrosine phosphorylation (GO:0018108)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147) breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 51 CAGCAATGGACGGAATTTCAA 0.483 NA C||| 1218 0.243211 0.0416 0.2968 5008 , , NA 18991 0.3115 NA 0.3549 False NA ,,, NA NA NA 2504 0.2924 NA NA NA NA 0 C MET/THR 346,4060 180.1+/-208.5 20,306,1877 247 244 245 1553 5 1 1 dbSNP_116 245 2857,5743 449.8+/-362.2 483,1891,1926 yes missense ROR1 NM_005012.2 81 503,2197,3803 TT,TC,CC 33.2209,7.8529,24.6271 benign 518/938 64643277 3203,9803 2203 4300 6503 SO:0001583 missense M97675 CCDS626.1, CCDS41344.1 1p32-p31 2013-01-11 ENSG00000185483 ENSG00000185483 4919 Immunoglobulin superfamily / I-set domain containing 10256 protein-coding gene gene with protein product 602336 NTRKR1 NA 1334494, 8875995 Standard NM_005012 NM_001083592 NA Approved uc001dbj.3 Q01973 OTTHUMG00000009022 ENST00000371079.1:c.1553C>T chr1.hg19:g.64643277C>T ENSP00000360120:p.Thr518Met NA Q5VVX6|Q66K77|Q92776 hg19 CCDS626.1 0.02 10.373505 GGAxGGA COVERED 622 0.2847985347985348 18 0.036585365853658534 123 0.3397790055248619 193 0.3374125874125874 288 0.37994722955145116 C 14.02 2.410795 0.42817 0.078529 0.332209 ENSG00000185483 ENST00000371079;ENST00000544776 D 0.83075 -1.68 5.97 5.04 0.67666 Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1); 0.175205 0.27460 N 0.019273 T 0.70491 0.3230 N 0.17379 0.485 0.09310 P 0.9999999999999218 P 0.42735 0.788 P 0.46940 0.532 T 0.76745 -0.2846 9 0.52906 T 0.07 . 17.0082 0.86399 0.0:0.8726:0.1273:0.0 rs7527017;rs17357178;rs56598333;rs60936730;rs7527017 518 Q01973 ROR1_HUMAN M 518;521 ENSP00000360120:T518M ENSP00000360120:T518M T + 2 0 ROR1 64415865 0.953000 0.32496 0.999000 0.59377 0.970000 0.65996 1.785000 0.38684 1.475000 0.48197 0.655000 0.94253 ACG NOVEL ROR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000025002.1 2 13.611494 KEEP 0 2 62 67 2269 CC 1 1 0 + 9 60 333 0 0 20.482296 260 60 8984 402 ENST00000371079.1 0.033457 1 LEPR 3953 __UNKNOWN__ __UNKNOWN__ 1 66058513 66058513 __UNKNOWN__ Missense_Mutation SNP A A G rs1137101 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:66058513A>G ENST00000349533.6 + 6 853 c.668A>G c.(667-669)cAg>cGg p.Q223R LEPR_ENST00000406510.3_Intron|LEPR_ENST00000344610.8_Missense_Mutation_p.Q223R|LEPR_ENST00000371059.3_Missense_Mutation_p.Q223R|LEPR_ENST00000371058.1_Missense_Mutation_p.Q223R|LEPR_ENST00000371060.3_Missense_Mutation_p.Q223R|LEPR_ENST00000462765.1_3'UTR NM_002303.5 NP_002294.2 O15243 OBRG_HUMAN leptin receptor 0 NA negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009) endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) receptor binding (GO:0005102) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2) 36 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) GTAATTTTCCAGTCACCTCTA 0.363 NA A||| 2926 0.584265 0.5923 0.4366 5008 , , NA 18691 0.869 NA 0.4692 False NA ,,, NA NA NA 2504 0.5031 NA NA NA NA 0 GRCh37 CM010905 LEPR M rs1137101 A ARG/GLN,ARG/GLN,ARG/GLN,ARG/GLN,ARG/GLN,ARG/GLN 2471,1935 623.5+/-394.1 694,1083,426 97 95 95 http://www.ncbi.nlm.nih.gov/sites/varvu?gene 668,668,668,668,668,668 3.7 1 1 dbSNP_86 95 3906,4694 544.9+/-384.7 901,2104,1295 yes missense,missense,missense,missense,missense,missense LEPR NM_001003679.3,NM_001003680.3,NM_001198687.1,NM_001198688.1,NM_001198689.1,NM_002303.5 43,43,43,43,43,43 1595,3187,1721 GG,GA,AA 45.4186,43.9174,49.0312 benign,benign,benign,benign,benign,benign 223/897,223/959,223/959,223/907,223/897,223/1166 66058513 6377,6629 2203 4300 6503 SO:0001583 missense U43168 CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1 1p31 2014-09-17 ENSG00000116678 ENSG00000116678 3953 CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 6554 protein-coding gene gene with protein product 601007 NA 8548812, 8812446 Standard NM_002303 NM_001003680 NA Approved OBR, CD295 uc001dci.3 P48357 OTTHUMG00000009115 ENST00000349533.6:c.668A>G chr1.hg19:g.66058513A>G ENSP00000330393:p.Gln223Arg NA Q6FHL5 hg19 CCDS631.1 0.02 8.255252 TCCxGTC COVERED 1287 0.5892857142857143 265 0.5386178861788617 153 0.42265193370165743 496 0.8671328671328671 373 0.4920844327176781 A 13.55 2.271131 0.40194 0.560826 0.454186 ENSG00000116678 ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058 T;T;T;T;T 0.54675 0.57;0.56;0.58;0.56;0.57 5.96 3.66 0.41972 . 0.550372 0.19543 N 0.111741 T 0.20740 0.0499 L 0.42245 1.32 0.09310 P 0.999999999633346 B;B;P 0.44195 0.282;0.404;0.828 B;B;B 0.36845 0.081;0.109;0.234 T 0.03566 -1.1024 9 0.21540 T 0.41 -0.1619 9.2279 0.37418 0.7896:0.0:0.2104:0.0 rs1137101;rs1805093;rs2229418;rs3200842;rs9282885;rs12131454;rs17356624;rs52820808;rs59347832;rs1137101 223;223;223 P48357;P48357-2;P48357-3 LEPR_HUMAN;.;. R 223 ENSP00000340884:Q223R;ENSP00000330393:Q223R;ENSP00000360099:Q223R;ENSP00000360098:Q223R;ENSP00000360097:Q223R ENSP00000340884:Q223R Q + 2 0 LEPR 65831101 1.000000 0.71417 0.999000 0.59377 0.899000 0.52679 2.850000 0.48294 0.513000 0.28278 0.528000 0.53228 CAG NOVEL LEPR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000025275.1 1 6.389711 KEEP 0 2 68 45 1437 AA 1 1 0 + 13 60 463 0 0 30.584479 226 60 8479 346 ENST00000349533.6 0.054393 1 LEPR 3953 __UNKNOWN__ __UNKNOWN__ 1 66099831 66099831 __UNKNOWN__ Intron SNP C C T rs12034502 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:66099831C>T ENST00000349533.6 + 20 2858 LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371060.3_3'UTR NM_002303.5 NP_002294.2 O15243 OBRG_HUMAN leptin receptor NA NA negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009) endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) receptor binding (GO:0005102) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2) 36 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) AATTATGCTGCGTTGCTCACA 0.333 NA T||| 2653 0.529752 0.4478 0.4841 5008 , , NA 18193 0.87 NA 0.3797 False NA ,,, NA NA NA 2504 0.4765 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U43168 CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1 1p31 2014-09-17 ENSG00000116678 ENSG00000116678 3953 CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 6554 protein-coding gene gene with protein product 601007 NA 8548812, 8812446 Standard NM_002303 NM_001003680 NA Approved OBR, CD295 uc001dci.3 P48357 OTTHUMG00000009115 ENST00000349533.6:c.2674-2043C>T chr1.hg19:g.66099831C>T NA Q6FHL5 hg19 CCDS631.1 0.02 3.792222 CTGxGTT COVERED NOVEL LEPR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000025275.1 2 7.823712 KEEP 0 0 0 26 888 CC 0.999957 0.999957 0 + 6 60 220 0 0 14.206576 129 60 4501 198 ENST00000349533.6 0.044444 1 LEPR 3953 __UNKNOWN__ __UNKNOWN__ 1 66100450 66100450 __UNKNOWN__ Intron SNP G G A rs1938497 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:66100450G>A ENST00000349533.6 + 20 2858 LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371060.3_3'UTR NM_002303.5 NP_002294.2 O15243 OBRG_HUMAN leptin receptor NA NA negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009) endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) receptor binding (GO:0005102) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2) 36 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) TAATATGTAGGTTCATTTAAA 0.269 NA G||| 2653 0.529752 0.4478 0.4841 5008 , , NA 15849 0.87 NA 0.3797 False NA ,,, NA NA NA 2504 0.4765 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U43168 CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1 1p31 2014-09-17 ENSG00000116678 ENSG00000116678 3953 CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 6554 protein-coding gene gene with protein product 601007 NA 8548812, 8812446 Standard NM_002303 NM_001003680 NA Approved OBR, CD295 uc001dci.3 P48357 OTTHUMG00000009115 ENST00000349533.6:c.2674-1424G>A chr1.hg19:g.66100450G>A NA Q6FHL5 hg19 CCDS631.1 0.02 10.648253 TAGxTTC COVERED NOVEL LEPR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000025275.1 0 8.561846 KEEP 0 1 30 39 1337 GG 1 1 0 + 11 60 390 0 0 24.052128 273 60 10069 366 ENST00000349533.6 0.038732 1 LEPR 3953 __UNKNOWN__ __UNKNOWN__ 1 66100915 66100915 __UNKNOWN__ Intron SNP C C T rs1938496 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:66100915C>T ENST00000349533.6 + 20 2858 LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371060.3_3'UTR NM_002303.5 NP_002294.2 O15243 OBRG_HUMAN leptin receptor NA NA negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009) endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) receptor binding (GO:0005102) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2) 36 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) AAGCTGAACACATTTTCTATA 0.254 NA C||| 1471 0.29373 0.1399 0.2767 5008 , , NA 16224 0.7698 NA 0.2028 False NA ,,, NA NA NA 2504 0.1166 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U43168 CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1 1p31 2014-09-17 ENSG00000116678 ENSG00000116678 3953 CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 6554 protein-coding gene gene with protein product 601007 NA 8548812, 8812446 Standard NM_002303 NM_001003680 NA Approved OBR, CD295 uc001dci.3 P48357 OTTHUMG00000009115 ENST00000349533.6:c.2674-959C>T chr1.hg19:g.66100915C>T NA Q6FHL5 hg19 CCDS631.1 0.02 6.536784 ACAxATT COVERED NOVEL LEPR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000025275.1 0 8.427363 KEEP 0 0 0 28 999 CC 0.999997 0.999997 0 + 10 60 376 0 0 25.753979 164 60 6218 239 ENST00000349533.6 0.057471 1 LEPR 3953 __UNKNOWN__ __UNKNOWN__ 1 66103350 66103350 __UNKNOWN__ 3'UTR SNP C C A rs7518632 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:66103350C>A ENST00000349533.6 + 0 4335 NM_002303.5 NP_002294.2 O15243 OBRG_HUMAN leptin receptor NA NA negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009) endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) receptor binding (GO:0005102) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2) 36 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) TAATTCTTCTCTCTGAAAGAT 0.378 NA C||| 1469 0.293331 0.1407 0.2767 5008 , , NA 19417 0.7659 NA 0.2028 False NA ,,, NA NA NA 2504 0.1176 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U43168 CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1 1p31 2014-09-17 ENSG00000116678 ENSG00000116678 3953 CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 6554 protein-coding gene gene with protein product 601007 NA 8548812, 8812446 Standard NM_002303 NM_001003680 NA Approved OBR, CD295 uc001dci.3 P48357 OTTHUMG00000009115 ENST00000349533.6:c.*652C>A chr1.hg19:g.66103350C>A NA Q6FHL5 hg19 CCDS631.1 0.02 15.269486 TCTxTCT COVERED NOVEL LEPR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000025275.1 2 9.32958 KEEP 0 0 0 31 1062 CC 0.999997 0.999997 0 + 19 60 690 1 0 45.544883 351 60 13218 441 ENST00000349533.6 0.051351 1 LEPR 3953 __UNKNOWN__ __UNKNOWN__ 1 66105512 66105512 __UNKNOWN__ 3'UTR SNP A A G rs17127849 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:66105512A>G ENST00000349533.6 + 0 6497 NM_002303.5 NP_002294.2 O15243 OBRG_HUMAN leptin receptor NA NA negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009) endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) receptor binding (GO:0005102) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2) 36 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) GGATTACAGGATTTCTAACTT 0.363 NA T||| 2661 0.53135 0.4523 0.4841 5008 , , NA 15692 0.87 NA 0.3807 False NA ,,, NA NA NA 2504 0.4775 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U43168 CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1 1p31 2014-09-17 ENSG00000116678 ENSG00000116678 3953 CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 6554 protein-coding gene gene with protein product 601007 NA 8548812, 8812446 Standard NM_002303 NM_001003680 NA Approved OBR, CD295 uc001dci.3 P48357 OTTHUMG00000009115 ENST00000349533.6:c.*2814A>G chr1.hg19:g.66105512A>G NA Q6FHL5 hg19 CCDS631.1 0.02 12.000858 AGGxTTT COVERED NOVEL LEPR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000025275.1 1 4.082187 KEEP 0 2 67 37 1175 AA 1 1 0 + 10 60 354 0 0 22.019249 268 60 9693 383 ENST00000349533.6 0.035971 1 PDE4B 5142 __UNKNOWN__ __UNKNOWN__ 1 66386894 66386894 __UNKNOWN__ Intron SNP G G A rs3009870 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:66386894G>A ENST00000329654.4 + 3 468 PDE4B_ENST00000371049.3_Intron NM_001037341.1 NP_001032418.1 Q07343 PDE4B_HUMAN phosphodiesterase 4B, cAMP-specific NA NA cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|leukocyte migration (GO:0050900)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|neutrophil homeostasis (GO:0001780)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of high voltage-gated calcium channel activity (GO:1901841)|T cell receptor signaling pathway (GO:0050852) cell periphery (GO:0071944)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018) 3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 37 Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theobromine(DB01412)|Theophylline(DB00277) ctcgtgatccgcccgcctcgg 0.552 NA -||| 401 0.0800719 0.0045 0.0202 5008 , , NA 13978 0.2331 NA 0.0139 False NA ,,, NA NA NA 2504 0.135 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L20971 CCDS632.1, CCDS30742.1, CCDS30743.1, CCDS72802.1 1p31 2010-06-24 2010-06-24 ENSG00000184588 ENSG00000184588 5142 Phosphodiesterases 8781 protein-coding gene gene with protein product phosphodiesterase E4 dunce homolog (Drosophila) 600127 phosphodiesterase 4B, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E4), phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila) DPDE4 NA Standard NM_002600 XM_005270925 NA Approved uc001dco.3 Q07343 OTTHUMG00000009088 ENST00000329654.4:c.281+2376G>A chr1.hg19:g.66386894G>A NA A5YW33|O15443|Q13945|Q5TEK4|Q5TEK5|Q5TEK6 hg19 CCDS632.1 0.02 -0.043862 TCCxCCC UNCOVERED NOVEL PDE4B-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000025188.3 2 2.708538 KEEP 6 0 0 9 305 GG 0 0 0 + 2 60 71 0 0 6.5929 3 60 97 22 ENST00000329654.4 0.4 0.024074 MIER1 57708 __UNKNOWN__ __UNKNOWN__ 1 67452723 67452723 __UNKNOWN__ 3'UTR SNP C C A rs58180044 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:67452723C>A ENST00000355356.3 + 0 3828 MIER1_ENST00000357692.2_3'UTR|MIER1_ENST00000355977.6_3'UTR|MIER1_ENST00000371018.3_3'UTR NM_001077701.2|NM_001077704.2 NP_001071169.1|NP_001071172.1 Q8N108 MIER1_HUMAN mesoderm induction early response 1, transcriptional regulator NA NA positive regulation of chromatin silencing (GO:0031937)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053) chromatin binding (GO:0003682)|DNA binding (GO:0003677)|signal transducer activity (GO:0004871) breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3) 15 GTTTTAAATACATTCTCAGGC 0.308 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS41347.1, CCDS41348.1, CCDS53325.1, CCDS53326.1, CCDS53327.1, CCDS53328.1, CCDS53329.1, CCDS53330.1, CCDS60163.1 1p31.2 2013-07-23 2013-07-23 ENSG00000198160 ENSG00000198160 57708 29657 protein-coding gene gene with protein product mesoderm induction early response 1 homolog (Xenopus laevis) NA 12242014, 12482978 Standard NM_020948 NM_020948 NA Approved hMI-ER1, MI-ER1, KIAA1610 uc001dde.2 Q8N108 OTTHUMG00000009194 ENST00000355356.3:c.*2140C>A chr1.hg19:g.67452723C>A NA C9JFD4|Q08AE0|Q32NC4|Q5T104|Q5TAD1|Q5TAD2|Q5TAD4|Q5TAD5|Q6AHY8|Q86TB4|Q8N156|Q8N161|Q8NC37|Q8NES4|Q8NES5|Q8NES6|Q8WWG2|Q9HCG2 hg19 CCDS41348.1 0.02 12.219709 ATAxATT COVERED NOVEL MIER1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000025491.2 16 5.053998 KEEP 0 4 114 57 2025 CC 1 1 0 + 77 60 2766 0 0 240.865538 210 60 7885 415 ENST00000355356.3 0.268293 1 IL12RB2 3595 __UNKNOWN__ __UNKNOWN__ 1 67833501 67833501 __UNKNOWN__ Intron SNP G G A rs2252596 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:67833501G>A ENST00000262345.1 + 10 1898 IL12RB2_ENST00000544434.1_Intron|IL12RB2_ENST00000541374.1_Intron|IL12RB2_ENST00000371000.1_Intron NM_001559.2 NP_001550.1 Q99665 I12R2_HUMAN interleukin 12 receptor, beta 2 NA NA cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma production (GO:0032609)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interferon-gamma production (GO:0032729)|response to lipopolysaccharide (GO:0032496) external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887) cytokine receptor activity (GO:0004896) breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 45 CTTTCTGTCCGATAAAGGGTT 0.443 NA G||| 632 0.126198 0.1944 0.0937 5008 , , NA 18640 0.1944 NA 0.0209 False NA ,,, NA NA NA 2504 0.0951 NA NA NA NA 0 G 709,3697 289.2+/-280.3 61,587,1555 86 90 88 -0.7 0 1 dbSNP_100 88 124,8476 60.2+/-122.0 2,120,4178 no intron IL12RB2 NM_001559.2 63,707,5733 AA,AG,GG 1.4419,16.0917,6.4047 67833501 833,12173 2203 4300 6503 SO:0001627 intron_variant U64198 CCDS638.1, CCDS58006.1, CCDS58007.1, CCDS72805.1 1p31.3-p31.2 2014-07-15 ENSG00000081985 ENSG00000081985 3595 Interleukins and interleukin receptors, Fibronectin type III domain containing 5972 protein-coding gene gene with protein product 601642 NA 9284929, 8943050 Standard NM_001559 NM_001559 NA Approved uc001ddu.3 Q99665 OTTHUMG00000009094 ENST00000262345.1:c.1259-7G>A chr1.hg19:g.67833501G>A NA B1AN98|B7ZKL9|F5H7L6|Q2M3V3 hg19 CCDS638.1 0.02 1.977243 TCCxATA COVERED NOVEL IL12RB2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000025202.2 0 2.407595 KEEP 0 0 0 8 265 GG 0.99257 0.991893 0 + 4 60 147 0 0 9.714063 76 60 2484 92 ENST00000262345.1 0.05 0.999317 RPE65 6121 __UNKNOWN__ __UNKNOWN__ 1 68894928 68894928 __UNKNOWN__ 3'UTR SNP T T C rs3118418 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:68894928T>C ENST00000262340.5 - 0 2186 NM_000329.2 NP_000320.1 Q16518 RPE65_HUMAN retinal pigment epithelium-specific protein 65kDa NA NA cellular response to electrical stimulus (GO:0071257)|detection of light stimulus involved in visual perception (GO:0050908)|insulin receptor signaling pathway (GO:0008286)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin gene expression (GO:0007468)|retina homeostasis (GO:0001895)|retina morphogenesis in camera-type eye (GO:0060042)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776) endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886) all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity (GO:0052885)|all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity (GO:0052884)|metal ion binding (GO:0046872)|retinal isomerase activity (GO:0004744) central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 35 AGATTCATAATCTTTGAGCAG 0.289 NA T||| 986 0.196885 0.2216 0.2464 5008 , , NA 16924 0.1558 NA 0.168 False NA ,,, NA NA NA 2504 0.2004 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U18991 CCDS643.1 1p31 2014-05-13 2002-08-29 ENSG00000116745 ENSG00000116745 6121 3.1.1.64 10294 protein-coding gene gene with protein product retinol isomerase, all-trans-retinyl-palmitate hydrolase, retinoid isomerohydrolase, BCO family, member 3 180069 retinal pigment epithelium-specific protein (65kD) RP20 NA 8340400 Standard NM_000329 XM_006710811 NA Approved LCA2, rd12, BCO3 uc001dei.1 Q16518 OTTHUMG00000009208 ENST00000262340.5:c.*531A>G chr1.hg19:g.68894928T>C NA A8K1L0|Q5T9U3 hg19 CCDS643.1 0.02 13.320293 TAAxCTT COVERED NOVEL RPE65-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000025509.1 4 9.328607 KEEP 0 0 0 31 993 TT 0.999997 0.999997 0 - 14 60 530 0 0 34.717491 306 60 11141 404 ENST00000262340.5 0.04375 1 NEGR1 257194 __UNKNOWN__ __UNKNOWN__ 1 72739710 72739710 __UNKNOWN__ Intron SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:72739710C>T ENST00000357731.5 - 1 416 NEGR1_ENST00000434200.1_Intron NM_173808.2 NP_776169.2 Q7Z3B1 NEGR1_HUMAN neuronal growth regulator 1 NA NA feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|positive regulation of neuron projection development (GO:0010976)|single organismal cell-cell adhesion (GO:0016337) anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886) endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117) KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242) CAGAATTTGGCTTTATTTTGC 0.398 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK092307 CCDS661.1 1p31.1 2013-01-11 ENSG00000172260 ENSG00000172260 257194 Immunoglobulin superfamily / I-set domain containing 17302 protein-coding gene gene with protein product a kindred of IgLON, neurotractin, IgLON family member 4 613173 NA 10075727 Standard NM_173808 NM_173808 NA Approved KILON, MGC46680, Ntra, IGLON4 uc001dfw.3 Q7Z3B1 OTTHUMG00000009698 ENST00000357731.5:c.176+8291G>A chr1.hg19:g.72739710C>T NA Q5VT21|Q6UY06|Q8N440|Q8NAQ3 hg19 CCDS661.1 0.02 2.210633 TGGxTTT COVERED NOVEL NEGR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000026722.4 1 6.23758 KEEP 0 0 0 21 613 CC 0.999869 0.999869 0 - 11 60 243 0 0 13.145462 126 60 3651 193 ENST00000357731.5 0.080292 1 FPGT-TNNI3K 100526835 __UNKNOWN__ __UNKNOWN__ 1 74838026 74838026 __UNKNOWN__ Intron SNP A A G rs12404339 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:74838026A>G ENST00000370899.3 + 19 2112 TNNI3K_ENST00000326637.3_Intron|RP11-439H8.4_ENST00000415549.2_RNA|FPGT-TNNI3K_ENST00000370895.1_3'UTR|TNNI3K_ENST00000370891.2_Intron|FPGT-TNNI3K_ENST00000557284.2_Intron NM_001199327.1 NP_001186256 FPGT-TNNI3K readthrough NA NA NA tgttgctcatacagctcagac 0.393 NA A||| 1820 0.363419 0.0976 0.3473 5008 , , NA 14132 0.6458 NA 0.332 False NA ,,, NA NA NA 2504 0.4755 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant 1p31.3 2014-03-14 ENSG00000259030 ENSG00000259030 100526835 42952 other readthrough NA Standard NM_001112808 NA Approved uc001dge.2 OTTHUMG00000166281 ENST00000370899.3:c.2075+1950A>G chr1.hg19:g.74838026A>G NA hg19 0.02 2.006799 CATxCAG COVERED NOVEL FPGT-TNNI3K-003 NOVEL basic|appris_candidate|readthrough_transcript|exp_conf protein_coding NA protein_coding OTTHUMT00000026438.3 0 3.610415 KEEP 0 0 0 12 363 AA 0.993634 0.993439 0 + 5 60 191 0 0 13.12604 84 60 2993 114 ENST00000370899.3 0.05618 0.999804 CRYZ 1429 __UNKNOWN__ __UNKNOWN__ 1 75190452 75190452 __UNKNOWN__ Silent SNP C C T rs1051122 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:75190452C>T ENST00000340866.5 - 2 141 c.54G>A c.(52-54)ggG>ggA p.G18G CRYZ_ENST00000370872.3_Intron|CRYZ_ENST00000417775.1_Silent_p.G18G|CRYZ_ENST00000370871.3_Silent_p.G18G NM_001889.3 NP_001880.2 Q08257 QOR_HUMAN crystallin, zeta (quinone reductase) 18 NA protein homotetramerization (GO:0051289)|visual perception (GO:0007601)|xenobiotic catabolic process (GO:0042178) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231) mRNA 3'-UTR binding (GO:0003730)|NADPH binding (GO:0070402)|NADPH:quinone reductase activity (GO:0003960)|zinc ion binding (GO:0008270) NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5) 10 Dicoumarol(DB00266) GGACTTCTGGCCCACCAAATT 0.358 NA T||| 3874 0.773562 0.8306 0.7954 5008 , , NA 18467 0.7728 NA 0.7455 False NA ,,, NA NA NA 2504 0.7106 NA NA NA NA 0 T ,,, 3585,821 324.5+/-298.6 1457,671,75 130 142 138 54,54,,54 2.2 1 1 dbSNP_86 138 6389,2211 377.1+/-338.4 2370,1649,281 no coding-synonymous,coding-synonymous,intron,coding-synonymous CRYZ NM_001130042.1,NM_001130043.1,NM_001134759.1,NM_001889.3 ,,, 3827,2320,356 TT,TC,CC 25.7093,18.6337,23.3123 ,,, 18/330,18/296,,18/330 75190452 9974,3032 2203 4300 6503 SO:0001819 synonymous_variant CCDS665.1, CCDS44162.1, CCDS44163.1 1p31.1 2013-02-14 ENSG00000116791 ENSG00000116791 1429 2419 protein-coding gene gene with protein product 123691 NA Standard NM_001889 NA Approved uc001dgj.3 Q08257 OTTHUMG00000009620 ENST00000340866.5:c.54G>A chr1.hg19:g.75190452C>T NA A6NN60|D3DQ76|Q53FT0|Q59EU7|Q5HYE7|Q6NSK9 hg19 CCDS665.1 0.02 33.328071 TGGxCCA COVERED NOVEL CRYZ-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000026514.1 5 38.807403 KEEP 0 1 31 140 4914 CC 1 1 0 - 23 60 815 0 0 47.3229 775 60 26652 1217 ENST00000340866.5 0.028822 1 TYW3 127253 __UNKNOWN__ __UNKNOWN__ 1 75214441 75214441 __UNKNOWN__ Missense_Mutation SNP A A G rs1133891 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:75214441A>G ENST00000370867.3 + 4 450 c.361A>G c.(361-363)Atg>Gtg p.M121V TYW3_ENST00000479111.1_Start_Codon_SNP_p.M1V|TYW3_ENST00000457880.2_Missense_Mutation_p.M88V|TYW3_ENST00000421739.2_Intron NM_138467.2 NP_612476.1 Q6IPR3 TYW3_HUMAN tRNA-yW synthesizing protein 3 homolog (S. cerevisiae) 121 NA M -> V (in dbSNP:rs1133891). {ECO:0000269|PubMed:14702039}. tRNA processing (GO:0008033) methyltransferase activity (GO:0008168) central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(1) 15 ACAGCATTCCATGGCAATAGA 0.348 NA A||| 1799 0.359225 0.2496 0.317 5008 , , NA 18562 0.7063 NA 0.1262 False NA ,,, NA NA NA 2504 0.4192 NA NA NA NA 0 A VAL/MET,VAL/MET 987,3419 369.8+/-319.3 108,771,1324 109 110 110 262,361 5 1 1 dbSNP_86 110 962,7638 209.0+/-250.3 49,864,3387 yes missense,missense TYW3 NM_001162916.1,NM_138467.2 21,21 157,1635,4711 GG,GA,AA 11.186,22.4013,14.9854 benign,benign 88/227,121/260 75214441 1949,11057 2203 4300 6503 SO:0001583 missense BX647591 CCDS666.1, CCDS53334.1 1p31.1 2008-02-05 2006-05-25 2006-05-25 ENSG00000162623 ENSG00000162623 127253 24757 protein-coding gene gene with protein product 611245 chromosome 1 open reading frame 171 C1orf171 NA 17150819 Standard NM_138467 NM_138467 NA Approved FLJ40918 uc001dgn.3 Q6IPR3 OTTHUMG00000009641 ENST00000370867.3:c.361A>G chr1.hg19:g.75214441A>G ENSP00000359904:p.Met121Val NA B4DSP9|E9PGR7|Q5HYJ0|Q8N7L1 hg19 CCDS666.1 0.02 8.278524 TCCxTGG COVERED 717 0.3282967032967033 110 0.22357723577235772 99 0.27348066298342544 402 0.7027972027972028 106 0.13984168865435356 A 0.319 -0.962859 0.02249 0.224013 0.11186 ENSG00000162623 ENST00000457880;ENST00000370867 T;T 0.24723 1.84;1.84 5.94 5.03 0.67393 tRNA wybutosine-synthesizing protein (2); 0.105878 0.64402 N 0.000005 T 0.01421 0.0046 N 0.00086 -2.195 0.09310 P 1.0 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.40117 -0.9580 9 0.02654 T 1 -5.3508 14.4234 0.67200 0.072:0.0:0.928:0.0 rs11538280 88;121 E9PGR7;Q6IPR3 .;TYW3_HUMAN V 88;121 ENSP00000407025:M88V;ENSP00000359904:M121V ENSP00000359904:M121V M + 1 0 TYW3 74987029 1.000000 0.71417 0.997000 0.53966 0.248000 0.25809 5.631000 0.67812 1.528000 0.49103 -0.252000 0.11476 ATG NOVEL TYW3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000026573.1 3 18.656641 KEEP 0 0 0 62 1972 AA 1 1 0 + 7 60 252 0 0 15.007796 218 60 8124 370 ENST00000370867.3 0.031111 1 PIGK 10026 __UNKNOWN__ __UNKNOWN__ 1 77555481 77555481 __UNKNOWN__ 3'UTR SNP C C T rs169216 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:77555481C>T ENST00000370812.3 - 0 3789 PIGK_ENST00000445065.1_3'UTR NM_005482.2 NP_005473.1 Q92643 GPI8_HUMAN phosphatidylinositol glycan anchor biosynthesis, class K NA NA attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457) endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020) cysteine-type endopeptidase activity (GO:0004197)|GPI-anchor transamidase activity (GO:0003923)|protein disulfide isomerase activity (GO:0003756) endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 19 GAATGTCTTTCGTAATTTTAA 0.328 NA T||| 3470 0.692891 0.8442 0.6585 5008 , , NA 20065 0.5893 NA 0.6193 False NA ,,, NA NA NA 2504 0.6953 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF022913 CCDS674.1 1p31.1 2013-02-26 2006-06-28 ENSG00000142892 ENSG00000142892 10026 Phosphatidylinositol glycan anchor biosynthesis 8965 protein-coding gene gene with protein product GPI transamidase subunit 605087 phosphatidylinositol glycan, class K NA 9356492 Standard NM_005482 NM_005482 NA Approved hGPI8, GPI8 uc001dhk.3 Q92643 OTTHUMG00000009686 ENST00000370812.3:c.*2578G>A chr1.hg19:g.77555481C>T NA B2R7K3|B4E2M3|O14822|Q5TG77 hg19 CCDS674.1 0.02 5.890416 TTTxGTA COVERED NOVEL PIGK-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000026687.1 1 7.557821 KEEP 0 1 31 36 1190 CC 1 1 0 - 9 60 308 0 0 19.353315 182 60 6304 270 ENST00000370812.3 0.04712 1 PIGK 10026 __UNKNOWN__ __UNKNOWN__ 1 77629444 77629444 __UNKNOWN__ Intron SNP T T C rs2293253 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:77629444T>C ENST00000370812.3 - 6 608 PIGK_ENST00000445065.1_Intron|PIGK_ENST00000359130.1_Intron|PIGK_ENST00000370813.5_Intron|PIGK_ENST00000478391.1_Intron NM_005482.2 NP_005473.1 Q92643 GPI8_HUMAN phosphatidylinositol glycan anchor biosynthesis, class K NA NA attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457) endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020) cysteine-type endopeptidase activity (GO:0004197)|GPI-anchor transamidase activity (GO:0003923)|protein disulfide isomerase activity (GO:0003756) endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 19 AAGTTAAAAATCTTAAAAAAT 0.254 NA T||| 475 0.0948482 0.0091 0.0231 5008 , , NA 15198 0.1558 NA 0.0388 False NA ,,, NA NA NA 2504 0.2566 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF022913 CCDS674.1 1p31.1 2013-02-26 2006-06-28 ENSG00000142892 ENSG00000142892 10026 Phosphatidylinositol glycan anchor biosynthesis 8965 protein-coding gene gene with protein product GPI transamidase subunit 605087 phosphatidylinositol glycan, class K NA 9356492 Standard NM_005482 NM_005482 NA Approved hGPI8, GPI8 uc001dhk.3 Q92643 OTTHUMG00000009686 ENST00000370812.3:c.584+86A>G chr1.hg19:g.77629444T>C NA B2R7K3|B4E2M3|O14822|Q5TG77 hg19 CCDS674.1 0.02 2.487275 AAAxCTT COVERED NOVEL PIGK-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000026687.1 0 3.910393 KEEP 0 0 0 13 379 TT 0.994391 0.976447 0 - 5 60 193 0 0 14.328787 52 60 1892 74 ENST00000370812.3 0.087719 0.981955 AK5 26289 __UNKNOWN__ __UNKNOWN__ 1 77759578 77759578 __UNKNOWN__ Silent SNP A A G rs2815311 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:77759578A>G ENST00000354567.2 + 3 611 c.348A>G c.(346-348)gcA>gcG p.A116A AK5_ENST00000344720.5_Silent_p.A90A|AK5_ENST00000317704.4_3'UTR NM_174858.2 NP_777283.1 Q9Y6K8 KAD5_HUMAN adenylate kinase 5 116 NA ADP biosynthetic process (GO:0006172)|ATP metabolic process (GO:0046034)|dADP biosynthetic process (GO:0006173)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|pyrimidine ribonucleotide biosynthetic process (GO:0009220)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule organizing center (GO:0005815) adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside kinase activity (GO:0019206) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1) 40 CTGAGACTGCAGAGTTGATTG 0.428 NA A||| 576 0.115016 0.0613 0.1023 5008 , , NA 14067 0.1359 NA 0.2038 False NA ,,, NA NA NA 2504 0.0838 NA NA NA NA 0 A , 333,4073 173.7+/-203.5 12,309,1882 69 70 69 270,348 -7.4 1 1 dbSNP_100 69 1806,6794 325.1+/-316.8 178,1450,2672 no coding-synonymous,coding-synonymous AK5 NM_012093.3,NM_174858.2 , 190,1759,4554 GG,GA,AA 21.0,7.5579,16.4463 , 90/537,116/563 77759578 2139,10867 2203 4300 6503 SO:0001819 synonymous_variant AF062595 CCDS675.1, CCDS676.1 1p31 2008-02-05 ENSG00000154027 ENSG00000154027 26289 Adenylate kinases 365 protein-coding gene gene with protein product 608009 NA 10215863 Standard NM_174858 NM_012093 NA Approved uc001dhn.3 Q9Y6K8 OTTHUMG00000009796 ENST00000354567.2:c.348A>G chr1.hg19:g.77759578A>G NA Q5U622|Q6FH66|Q7Z4T5|Q86YS0|Q8N464|Q96EC9 hg19 CCDS675.1 0.02 9.707691 TGCxGAG COVERED NOVEL AK5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000026993.4 0 7.222027 KEEP 0 0 0 24 759 AA 0.999909 0.999909 0 + 8 60 303 0 0 19.362464 202 60 7624 288 ENST00000354567.2 0.038095 1 USP33 23032 __UNKNOWN__ __UNKNOWN__ 1 78162073 78162073 __UNKNOWN__ 3'UTR SNP A A G rs57075265 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:78162073A>G ENST00000370794.3 - 0 3925 USP33_ENST00000370793.1_3'UTR|USP33_ENST00000357428.1_3'UTR NM_201624.2 NP_963918.1 Q8TEY7 UBP33_HUMAN ubiquitin specific peptidase 33 NA NA axon guidance (GO:0007411)|cell migration (GO:0016477)|centrosome duplication (GO:0051298)|endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511) cell body (GO:0044297)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|VCB complex (GO:0030891) cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270) breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1) 44 ATAAGCGGCAATAAGTTACTG 0.289 NA A||| 457 0.091254 0.0 0.0346 5008 , , NA 18926 0.4127 NA 0.001 False NA ,,, NA NA NA 2504 0.0164 NA NA NA Melanoma(152;72 1870 11110 26780 42647) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF383173 CCDS678.1, CCDS679.1, CCDS680.1 1p31 2008-02-05 2005-08-08 ENSG00000077254 ENSG00000077254 23032 Ubiquitin-specific peptidases 20059 protein-coding gene gene with protein product 615146 ubiquitin specific protease 33 NA 12838346 Standard NM_015017 NM_015017 NA Approved KIAA1097, VDU1 uc001dht.4 Q8TEY7 OTTHUMG00000009651 ENST00000370794.3:c.*929T>C chr1.hg19:g.78162073A>G NA Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5 hg19 CCDS679.1 0.02 6.079773 GCAxTAA COVERED NOVEL USP33-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000026614.2 2 6.620332 KEEP 0 0 0 22 701 AA 0.999879 0.999879 0 - 11 60 395 0 0 26.458549 181 60 6587 249 ENST00000370794.3 0.057292 1 USP33 23032 __UNKNOWN__ __UNKNOWN__ 1 78162283 78162283 __UNKNOWN__ 3'UTR SNP T T A rs149524895 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:78162283T>A ENST00000370794.3 - 0 3715 USP33_ENST00000370793.1_3'UTR|USP33_ENST00000357428.1_3'UTR NM_201624.2 NP_963918.1 Q8TEY7 UBP33_HUMAN ubiquitin specific peptidase 33 NA NA axon guidance (GO:0007411)|cell migration (GO:0016477)|centrosome duplication (GO:0051298)|endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511) cell body (GO:0044297)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|VCB complex (GO:0030891) cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270) breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1) 44 TATGAAGCCATGACAAAACTA 0.328 NA T||| 48 0.00958466 0.0 0.0 5008 , , NA 17500 0.0456 NA 0.0 False NA ,,, NA NA NA 2504 0.002 NA NA NA Melanoma(152;72 1870 11110 26780 42647) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF383173 CCDS678.1, CCDS679.1, CCDS680.1 1p31 2008-02-05 2005-08-08 ENSG00000077254 ENSG00000077254 23032 Ubiquitin-specific peptidases 20059 protein-coding gene gene with protein product 615146 ubiquitin specific protease 33 NA 12838346 Standard NM_015017 NM_015017 NA Approved KIAA1097, VDU1 uc001dht.4 Q8TEY7 OTTHUMG00000009651 ENST00000370794.3:c.*719A>T chr1.hg19:g.78162283T>A NA Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5 hg19 CCDS679.1 0.02 6.824382 CCAxGAC COVERED NOVEL USP33-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000026614.2 0 10.529495 KEEP 0 0 0 35 1053 TT 0.999999 0.999999 0 - 8 60 292 0 0 19.16185 155 60 5775 241 ENST00000370794.3 0.04908 1 GIPC2 54810 __UNKNOWN__ __UNKNOWN__ 1 78578177 78578177 __UNKNOWN__ Intron SNP T T C rs6666954 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:78578177T>C ENST00000370759.3 + 4 800 NM_017655.4 NP_060125.4 Q8TF65 GIPC2_HUMAN GIPC PDZ domain containing family, member 2 NA NA cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062) endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2) 20 ATGTTGAAATTATGGTCTCTG 0.532 NA C||| 2248 0.448882 0.6536 0.2896 5008 , , NA 20448 0.629 NA 0.2932 False NA ,,, NA NA NA 2504 0.2597 NA NA NA NA 0 C 1029,723 300,429,147 187 167 173 -2.7 0 1 dbSNP_116 173 1109,2873 142,825,1024 no intron GIPC2 NM_017655.4 442,1254,1171 CC,CT,TT 27.8503,41.2671,37.2864 78578177 2138,3596 876 1991 2867 SO:0001627 intron_variant AB073737 CCDS685.1 1p31.1 2010-05-28 ENSG00000137960 ENSG00000137960 54810 18177 protein-coding gene gene with protein product semaphorin cytoplasmic domain associated protein 2 NA 11836570 Standard NM_017655 NM_017655 NA Approved FLJ20075, SEMCAP-2 uc001dik.3 Q8TF65 OTTHUMG00000041145 ENST00000370759.3:c.608-6900T>C chr1.hg19:g.78578177T>C NA Q8IYD3|Q9NXS7 hg19 CCDS685.1 0.02 7.386307 AATxATG COVERED NOVEL GIPC2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000098629.1 0 7.522428 KEEP 0 0 0 25 773 TT 0.999931 0.999931 0 + 9 60 351 0 0 23.644319 182 60 6554 250 ENST00000370759.3 0.04712 1 GIPC2 54810 __UNKNOWN__ __UNKNOWN__ 1 78585086 78585086 __UNKNOWN__ Missense_Mutation SNP T T C rs540742 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:78585086T>C ENST00000370759.3 + 4 810 c.617T>C c.(616-618)cTg>cCg p.L206P NM_017655.4 NP_060125.4 Q8TF65 GIPC2_HUMAN GIPC PDZ domain containing family, member 2 206 NA L -> P (in dbSNP:rs540742). {ECO:0000269|PubMed:15489334}. cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062) endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2) 20 GAAATAGAGCTGAGGTCAAAG 0.413 NA C||| 1538 0.307109 0.2186 0.1758 5008 , , NA 18381 0.6637 NA 0.2266 False NA ,,, NA NA NA 2504 0.2352 NA NA NA NA 0 C PRO/LEU 990,3416 731.6+/-410.3 129,732,1342 90 89 90 617 4.7 0 1 dbSNP_83 90 1878,6722 726.7+/-406.6 197,1484,2619 yes missense GIPC2 NM_017655.4 98 326,2216,3961 CC,CT,TT 21.8372,22.4694,22.0514 benign 206/316 78585086 2868,10138 2203 4300 6503 SO:0001583 missense AB073737 CCDS685.1 1p31.1 2010-05-28 ENSG00000137960 ENSG00000137960 54810 18177 protein-coding gene gene with protein product semaphorin cytoplasmic domain associated protein 2 NA 11836570 Standard NM_017655 NM_017655 NA Approved FLJ20075, SEMCAP-2 uc001dik.3 Q8TF65 OTTHUMG00000041145 ENST00000370759.3:c.617T>C chr1.hg19:g.78585086T>C ENSP00000359795:p.Leu206Pro NA Q8IYD3|Q9NXS7 hg19 CCDS685.1 0.02 12.42743 AGCxGAG COVERED 737 0.3374542124542125 127 0.258130081300813 67 0.1850828729281768 373 0.6520979020979021 170 0.22427440633245382 C 0.003 -2.457311 0.00173 0.224694 0.218372 ENSG00000137960 ENST00000370759 T 0.80566 -1.39 5.59 4.68 0.58851 PDZ/DHR/GLGF (1); 0.098868 0.64402 N 0.000001 T 0.13114 0.0318 N 0.00024 -2.69 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.17077 -1.0381 9 0.02654 T 1 -17.525 9.1027 0.36678 0.0:0.8313:0.0:0.1687 rs540742;rs3748650;rs17846165;rs17859175;rs52792767;rs57550733;rs540742 206 Q8TF65 GIPC2_HUMAN P 206 ENSP00000359795:L206P ENSP00000359795:L206P L + 2 0 GIPC2 78357674 0.535000 0.26370 0.007000 0.13788 0.001000 0.01503 2.060000 0.41394 0.867000 0.35654 -0.733000 0.03571 CTG NOVEL GIPC2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000098629.1 2 15.94554 KEEP 0 0 0 53 1624 TT 1 1 0 + 9 60 326 0 0 19.245467 299 60 11222 425 ENST00000370759.3 0.029221 1 GIPC2 54810 __UNKNOWN__ __UNKNOWN__ 1 78602491 78602491 __UNKNOWN__ 3'UTR SNP A A T rs627661 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:78602491A>T ENST00000370759.3 + 0 2205 NM_017655.4 NP_060125.4 Q8TF65 GIPC2_HUMAN GIPC PDZ domain containing family, member 2 NA NA cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062) endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2) 20 TGACTGTCTTATCACTCTTAT 0.318 NA A||| 1660 0.33147 0.2171 0.1974 5008 , , NA 16825 0.7649 NA 0.2386 False NA ,,, NA NA NA 2504 0.2301 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB073737 CCDS685.1 1p31.1 2010-05-28 ENSG00000137960 ENSG00000137960 54810 18177 protein-coding gene gene with protein product semaphorin cytoplasmic domain associated protein 2 NA 11836570 Standard NM_017655 NM_017655 NA Approved FLJ20075, SEMCAP-2 uc001dik.3 Q8TF65 OTTHUMG00000041145 ENST00000370759.3:c.*1064A>T chr1.hg19:g.78602491A>T NA Q8IYD3|Q9NXS7 hg19 CCDS685.1 0.02 5.908764 CTTxTCA COVERED NOVEL GIPC2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000098629.1 0 6.62052 KEEP 0 0 0 22 705 AA 0.999879 0.999879 0 + 9 60 314 0 0 20.507781 157 60 5731 222 ENST00000370759.3 0.054217 1 GIPC2 54810 __UNKNOWN__ __UNKNOWN__ 1 78602941 78602941 __UNKNOWN__ 3'UTR SNP C C T rs663254 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:78602941C>T ENST00000370759.3 + 0 2655 NM_017655.4 NP_060125.4 Q8TF65 GIPC2_HUMAN GIPC PDZ domain containing family, member 2 NA NA cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062) endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2) 20 TGTTGGTACTCGTTTAGTGAG 0.323 NA T||| 1666 0.332668 0.2216 0.1974 5008 , , NA 19024 0.7649 NA 0.2386 False NA ,,, NA NA NA 2504 0.2301 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB073737 CCDS685.1 1p31.1 2010-05-28 ENSG00000137960 ENSG00000137960 54810 18177 protein-coding gene gene with protein product semaphorin cytoplasmic domain associated protein 2 NA 11836570 Standard NM_017655 NM_017655 NA Approved FLJ20075, SEMCAP-2 uc001dik.3 Q8TF65 OTTHUMG00000041145 ENST00000370759.3:c.*1514C>T chr1.hg19:g.78602941C>T NA Q8IYD3|Q9NXS7 hg19 CCDS685.1 0.02 8.874909 ACTxGTT COVERED NOVEL GIPC2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000098629.1 2 8.862637 KEEP 0 1 30 40 1368 CC 1 1 0 + 16 60 599 0 0 41.775164 232 60 8221 360 ENST00000370759.3 0.064516 1 GIPC2 54810 __UNKNOWN__ __UNKNOWN__ 1 78603067 78603067 __UNKNOWN__ 3'UTR SNP A A G rs614963 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:78603067A>G ENST00000370759.3 + 0 2781 NM_017655.4 NP_060125.4 Q8TF65 GIPC2_HUMAN GIPC PDZ domain containing family, member 2 NA NA cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062) endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2) 20 CCATAGAAACATTCTCGTTTA 0.303 NA A||| 1660 0.33147 0.2171 0.1974 5008 , , NA 20132 0.7649 NA 0.2386 False NA ,,, NA NA NA 2504 0.2301 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB073737 CCDS685.1 1p31.1 2010-05-28 ENSG00000137960 ENSG00000137960 54810 18177 protein-coding gene gene with protein product semaphorin cytoplasmic domain associated protein 2 NA 11836570 Standard NM_017655 NM_017655 NA Approved FLJ20075, SEMCAP-2 uc001dik.3 Q8TF65 OTTHUMG00000041145 ENST00000370759.3:c.*1640A>G chr1.hg19:g.78603067A>G NA Q8IYD3|Q9NXS7 hg19 CCDS685.1 0.02 6.716872 AACxTTC COVERED NOVEL GIPC2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000098629.1 2 9.026975 KEEP 0 0 0 30 934 AA 0.999997 0.999997 0 + 11 60 397 0 0 26.482835 188 60 6987 276 ENST00000370759.3 0.055276 1 GIPC2 54810 __UNKNOWN__ __UNKNOWN__ 1 78603789 78603789 __UNKNOWN__ 3'UTR SNP C C T rs584660 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:78603789C>T ENST00000370759.3 + 0 3503 NM_017655.4 NP_060125.4 Q8TF65 GIPC2_HUMAN GIPC PDZ domain containing family, member 2 NA NA cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062) endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2) 20 GCACACAATGCGTTTTCTTTG 0.343 NA T||| 1649 0.329273 0.2088 0.1974 5008 , , NA 18709 0.7649 NA 0.2376 False NA ,,, NA NA NA 2504 0.2311 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB073737 CCDS685.1 1p31.1 2010-05-28 ENSG00000137960 ENSG00000137960 54810 18177 protein-coding gene gene with protein product semaphorin cytoplasmic domain associated protein 2 NA 11836570 Standard NM_017655 NM_017655 NA Approved FLJ20075, SEMCAP-2 uc001dik.3 Q8TF65 OTTHUMG00000041145 ENST00000370759.3:c.*2362C>T chr1.hg19:g.78603789C>T NA Q8IYD3|Q9NXS7 hg19 CCDS685.1 0.02 3.871164 ATGxGTT COVERED NOVEL GIPC2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000098629.1 1 6.619621 KEEP 0 0 0 22 753 CC 0.999879 0.999878 0 + 6 60 212 0 0 13.591858 120 60 4229 180 ENST00000370759.3 0.047619 1 GIPC2 54810 __UNKNOWN__ __UNKNOWN__ 1 78603846 78603846 __UNKNOWN__ 3'UTR SNP G G A rs642248 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:78603846G>A ENST00000370759.3 + 0 3560 NM_017655.4 NP_060125.4 Q8TF65 GIPC2_HUMAN GIPC PDZ domain containing family, member 2 NA NA cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062) endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2) 20 GGCTCGATGAGGCCTTGAACA 0.358 NA G||| 1647 0.328874 0.2088 0.196 5008 , , NA 17960 0.7649 NA 0.2376 False NA ,,, NA NA NA 2504 0.2301 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB073737 CCDS685.1 1p31.1 2010-05-28 ENSG00000137960 ENSG00000137960 54810 18177 protein-coding gene gene with protein product semaphorin cytoplasmic domain associated protein 2 NA 11836570 Standard NM_017655 NM_017655 NA Approved FLJ20075, SEMCAP-2 uc001dik.3 Q8TF65 OTTHUMG00000041145 ENST00000370759.3:c.*2419G>A chr1.hg19:g.78603846G>A NA Q8IYD3|Q9NXS7 hg19 CCDS685.1 0.02 4.956985 TGAxGCC COVERED NOVEL GIPC2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000098629.1 3 6.019638 KEEP 0 0 0 20 707 GG 0.999863 0.99986 0 + 6 60 234 0 0 16.009882 110 60 4142 154 ENST00000370759.3 0.051724 0.999997 GIPC2 54810 __UNKNOWN__ __UNKNOWN__ 1 78604096 78604096 __UNKNOWN__ 3'UTR SNP C C T rs580426 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:78604096C>T ENST00000370759.3 + 0 3810 NM_017655.4 NP_060125.4 Q8TF65 GIPC2_HUMAN GIPC PDZ domain containing family, member 2 NA NA cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062) endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2) 20 TTTTCCCTTGCAACTTTAGCA 0.313 NA T||| 1645 0.328474 0.2088 0.1945 5008 , , NA 17953 0.7649 NA 0.2376 False NA ,,, NA NA NA 2504 0.229 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB073737 CCDS685.1 1p31.1 2010-05-28 ENSG00000137960 ENSG00000137960 54810 18177 protein-coding gene gene with protein product semaphorin cytoplasmic domain associated protein 2 NA 11836570 Standard NM_017655 NM_017655 NA Approved FLJ20075, SEMCAP-2 uc001dik.3 Q8TF65 OTTHUMG00000041145 ENST00000370759.3:c.*2669C>T chr1.hg19:g.78604096C>T NA Q8IYD3|Q9NXS7 hg19 CCDS685.1 0.02 1.900444 TTGxAAC COVERED NOVEL GIPC2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000098629.1 1 4.213892 KEEP 0 0 0 14 506 CC 0.995343 0.99045 0 + 5 60 180 0 0 12.66362 62 60 2346 90 ENST00000370759.3 0.074627 0.995084 PTGFR 5737 __UNKNOWN__ __UNKNOWN__ 1 78882487 78882487 __UNKNOWN__ Intron SNP C C T rs10873983 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:78882487C>T ENST00000370758.1 + 2 123 P43088 PF2R_HUMAN prostaglandin F receptor (FP) NA NA calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|parturition (GO:0007567)|response to lipopolysaccharide (GO:0032496) cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) prostaglandin F receptor activity (GO:0004958) breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 33 Colorectal(170;0.248) Bimatoprost(DB00905)|Dinoprost Tromethamine(DB01160)|Latanoprost(DB00654)|Tafluprost(DB08819)|Travoprost(DB00287) GACAAAGTCCCGTGATAATTT 0.363 NA C||| 3097 0.618411 0.4879 0.6931 5008 , , NA 17288 0.6746 NA 0.7127 False NA ,,, NA NA NA 2504 0.5869 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF004021 CCDS686.1, CCDS30759.1 1p31.1 2012-08-08 ENSG00000122420 ENSG00000122420 5737 GPCR / Class A : Prostanoid receptors 9600 protein-coding gene gene with protein product 600563 NA 8300593, 7759114 Standard NM_000959 XM_006710781 NA Approved FP uc001din.3 P43088 OTTHUMG00000009644 ENST00000370758.1:c.-73+17777C>T chr1.hg19:g.78882487C>T NA A8K9Y0|Q2KHP3|Q6RYQ6|Q9P1X4 hg19 CCDS686.1 0.02 6.852006 TCCxGTG COVERED NOVEL PTGFR-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000026583.2 1 7.824967 KEEP 0 0 0 26 881 CC 0.999957 0.999957 0 + 8 60 303 0 0 19.625222 187 60 6361 268 ENST00000370758.1 0.041026 1 PTGFR 5737 __UNKNOWN__ __UNKNOWN__ 1 79002328 79002328 __UNKNOWN__ Missense_Mutation SNP G G C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:79002328G>C ENST00000370757.3 + 3 1273 c.1036G>C c.(1036-1038)Gct>Cct p.A346P PTGFR_ENST00000370756.3_3'UTR|PTGFR_ENST00000370758.1_Missense_Mutation_p.A346P NM_000959.3 NP_000950.1 P43088 PF2R_HUMAN prostaglandin F receptor (FP) 346 NA calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|parturition (GO:0007567)|response to lipopolysaccharide (GO:0032496) cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) prostaglandin F receptor activity (GO:0004958) breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 33 Colorectal(170;0.248) Bimatoprost(DB00905)|Dinoprost Tromethamine(DB01160)|Latanoprost(DB00654)|Tafluprost(DB08819)|Travoprost(DB00287) AAAGGTTGCTGCTATTTCTGA 0.398 NA NA NA NA NA NA NA NA NA NA NA 0 59 57 58 NA NA 1 NA 79002328 2203 4299 6502 SO:0001583 missense AF004021 CCDS686.1, CCDS30759.1 1p31.1 2012-08-08 ENSG00000122420 ENSG00000122420 5737 GPCR / Class A : Prostanoid receptors 9600 protein-coding gene gene with protein product 600563 NA 8300593, 7759114 Standard NM_000959 XM_006710781 NA Approved FP uc001din.3 P43088 OTTHUMG00000009644 ENST00000370757.3:c.1036G>C chr1.hg19:g.79002328G>C ENSP00000359793:p.Ala346Pro NA A8K9Y0|Q2KHP3|Q6RYQ6|Q9P1X4 hg19 CCDS686.1 0.02 28.911951 GCTxCTA COVERED . . . . . . . . . . G 23.4 4.410642 0.83340 . . ENSG00000122420 ENST00000370758;ENST00000370757 D;D 0.90788 -2.73;-2.73 5.85 5.85 0.93711 . 0.136815 0.49305 D 0.000157 D 0.87273 0.6136 L 0.56769 1.78 0.80722 D 1 P 0.49961 0.93 P 0.44860 0.462 D 0.88337 0.2972 10 0.59425 D 0.04 -10.5589 13.7154 0.62693 0.0702:0.0:0.9298:0.0 . 346 P43088 PF2R_HUMAN P 346 ENSP00000359794:A346P;ENSP00000359793:A346P ENSP00000359793:A346P A + 1 0 PTGFR 78774916 1.000000 0.71417 1.000000 0.80357 0.985000 0.73830 4.424000 0.59868 2.941000 0.99782 0.655000 0.94253 GCT NOVEL PTGFR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000026582.1 4 18.962306 KEEP 0 0 0 63 2269 GG 1 1 0 + 17 60 624 0 0 35.573607 704 60 26607 906 ENST00000370757.3 0.023578 1 IFI44L 10964 __UNKNOWN__ __UNKNOWN__ 1 79095526 79095526 __UNKNOWN__ Missense_Mutation SNP G G A rs3820093 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:79095526G>A ENST00000370751.5 + 4 828 c.649G>A c.(649-651)Gtc>Atc p.V217I IFI44L_ENST00000476521.1_3'UTR|IFI44L_ENST00000342282.3_5'UTR NM_006820.2 NP_006811.2 Q53G44 IF44L_HUMAN interferon-induced protein 44-like 217 NA V -> I (in dbSNP:rs3820093). {ECO:0000269|Ref.2}. defense response to virus (GO:0051607)|immune response (GO:0006955) cytoplasm (GO:0005737) endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 22 TTTCAATTCAGTCAAGTCTAT 0.443 NA G||| 733 0.146366 0.0613 0.0591 5008 , , NA 13446 0.4157 NA 0.0686 False NA ,,, NA NA NA 2504 0.1258 NA NA NA NA 0 G ILE/VAL 317,4089 168.3+/-199.2 10,297,1896 115 114 115 649 2 1 1 dbSNP_107 115 589,8011 157.3+/-211.0 19,551,3730 yes missense IFI44L NM_006820.2 29 29,848,5626 AA,AG,GG 6.8488,7.1947,6.966 probably-damaging 217/453 79095526 906,12100 2203 4300 6503 SO:0001583 missense AB000115 CCDS687.2 1p22.3 2008-07-18 2004-11-12 2004-11-12 ENSG00000137959 ENSG00000137959 10964 17817 protein-coding gene gene with protein product 613975 chromosome 1 open reading frame 29 C1orf29 NA Standard NM_006820 NM_006820 NA Approved GS3686 uc010oro.2 Q53G44 OTTHUMG00000009724 ENST00000370751.5:c.649G>A chr1.hg19:g.79095526G>A ENSP00000359787:p.Val217Ile NA Q86TE1|Q96B64|Q99984 hg19 CCDS687.2 0.02 9.800571 TCAxTCA COVERED 342 0.1565934065934066 28 0.056910569105691054 22 0.06077348066298342 243 0.42482517482517484 49 0.06464379947229551 G 14.22 2.471146 0.43942 0.071947 0.068488 ENSG00000137959 ENST00000370751;ENST00000450498 T;T 0.16743 3.12;2.32 2.95 2.01 0.26516 . 0.185352 0.34959 N 0.003548 T 0.04048 0.0113 N 0.25031 0.7 0.09310 P 0.9999999999996667 P 0.42203 0.773 B 0.39339 0.297 T 0.41016 -0.9532 9 0.27082 T 0.32 -12.6224 9.6529 0.39908 0.0:0.2157:0.7843:0.0 rs3820093;rs60564678;rs3820093 217 Q53G44 IF44L_HUMAN I 217;194 ENSP00000359787:V217I;ENSP00000400784:V194I ENSP00000359787:V217I V + 1 0 IFI44L 78868114 1.000000 0.71417 0.998000 0.56505 0.780000 0.44128 1.576000 0.36504 0.785000 0.33685 -0.428000 0.05917 GTC NOVEL IFI44L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000026834.3 2 22.269761 KEEP 0 0 0 74 2564 GG 1 1 0 + 8 60 282 0 0 16.420425 259 60 9410 418 ENST00000370751.5 0.029963 1 IFI44L 10964 __UNKNOWN__ __UNKNOWN__ 1 79102726 79102726 __UNKNOWN__ Missense_Mutation SNP C C T rs1981071 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:79102726C>T ENST00000370751.5 + 6 1065 c.886C>T c.(886-888)Cgt>Tgt p.R296C IFI44L_ENST00000476521.1_Intron|IFI44L_ENST00000342282.3_Missense_Mutation_p.R38C NM_006820.2 NP_006811.2 Q53G44 IF44L_HUMAN interferon-induced protein 44-like 296 NA R -> C (in dbSNP:rs1981071). {ECO:0000269|Ref.2}. defense response to virus (GO:0051607)|immune response (GO:0006955) cytoplasm (GO:0005737) endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 22 GTTTAATTCCCGTAAACCAAT 0.358 NA C||| 651 0.129992 0.0537 0.0519 5008 , , NA 17450 0.4147 NA 0.0487 False NA ,,, NA NA NA 2504 0.0787 NA NA NA NA 0 C CYS/ARG 255,4151 145.4+/-180.2 7,241,1955 128 132 131 886 -6.3 0 1 dbSNP_92 131 454,8146 135.7+/-192.9 12,430,3858 yes missense IFI44L NM_006820.2 180 19,671,5813 TT,TC,CC 5.2791,5.7876,5.4513 benign 296/453 79102726 709,12297 2203 4300 6503 SO:0001583 missense AB000115 CCDS687.2 1p22.3 2008-07-18 2004-11-12 2004-11-12 ENSG00000137959 ENSG00000137959 10964 17817 protein-coding gene gene with protein product 613975 chromosome 1 open reading frame 29 C1orf29 NA Standard NM_006820 NM_006820 NA Approved GS3686 uc010oro.2 Q53G44 OTTHUMG00000009724 ENST00000370751.5:c.886C>T chr1.hg19:g.79102726C>T ENSP00000359787:p.Arg296Cys NA Q86TE1|Q96B64|Q99984 hg19 CCDS687.2 0.02 13.06138 TCCxGTA COVERED 316 0.1446886446886447 20 0.04065040650406504 16 0.04419889502762431 242 0.4230769230769231 38 0.05013192612137203 C 9.029 0.986871 0.18889 0.057876 0.052791 ENSG00000137959 ENST00000370751;ENST00000342282 T;T 0.31510 3.08;1.49 4.08 -6.28 0.02020 . 1.701490 0.02854 N 0.129438 T 0.03305 0.0096 N 0.04959 -0.14 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.16958 -1.0385 9 0.35671 T 0.21 1.2245 1.0601 0.01599 0.3425:0.1699:0.312:0.1755 rs1981071;rs52797754;rs58754546;rs1981071 296 Q53G44 IF44L_HUMAN C 296;38 ENSP00000359787:R296C;ENSP00000342833:R38C ENSP00000342833:R38C R + 1 0 IFI44L 78875314 0.000000 0.05858 0.000000 0.03702 0.039000 0.13416 -2.300000 0.01138 -0.980000 0.03524 0.460000 0.39030 CGT NOVEL IFI44L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000026834.3 0 6.555617 KEEP 0 1 32 33 1112 CC 0.999998 0.999998 0 + 9 60 337 0 0 20.39505 295 60 10358 398 ENST00000370751.5 0.029605 1 ELTD1 64123 __UNKNOWN__ __UNKNOWN__ 1 79383458 79383458 __UNKNOWN__ Intron SNP A A T rs12569007 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:79383458A>T ENST00000370742.3 - 11 1746 NM_022159.3 NP_071442.2 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain containing 1 NA NA G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930) NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 69 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) TTATCAAAGAAATGCAAAGCA 0.303 NA T||| 3186 0.636182 0.5431 0.6974 5008 , , NA 15971 0.7044 NA 0.6213 False NA ,,, NA NA NA 2504 0.6636 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF192403 CCDS41352.1 1p33-p32 2014-08-08 ENSG00000162618 ENSG00000162618 64123 -, GPCR / Class B : Orphans 20822 protein-coding gene gene with protein product NA 11050079 Standard NM_022159 NM_022159 NA Approved ETL uc001diq.4 Q9HBW9 OTTHUMG00000009738 ENST00000370742.3:c.1682+56T>A chr1.hg19:g.79383458A>T NA B1AR71|Q5KU34 hg19 CCDS41352.1 0.02 6.314954 AGAxATG COVERED NOVEL ELTD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000026859.1 2 4.513944 KEEP 0 0 0 15 484 AA 0.99649 0.99649 0 - 8 60 297 0 0 19.155633 180 60 6391 222 ENST00000370742.3 0.042553 1 ELTD1 64123 __UNKNOWN__ __UNKNOWN__ 1 79401927 79401927 __UNKNOWN__ Intron SNP A A G rs61770681 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:79401927A>G ENST00000370742.3 - 7 941 NM_022159.3 NP_071442.2 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain containing 1 NA NA G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930) NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 69 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) TGCATGATAAATATTTATTGC 0.259 NA G||| 3109 0.620807 0.4939 0.6844 5008 , , NA 16953 0.7044 NA 0.6193 False NA ,,, NA NA NA 2504 0.6626 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF192403 CCDS41352.1 1p33-p32 2014-08-08 ENSG00000162618 ENSG00000162618 64123 -, GPCR / Class B : Orphans 20822 protein-coding gene gene with protein product NA 11050079 Standard NM_022159 NM_022159 NA Approved ETL uc001diq.4 Q9HBW9 OTTHUMG00000009738 ENST00000370742.3:c.877+52T>C chr1.hg19:g.79401927A>G NA B1AR71|Q5KU34 hg19 CCDS41352.1 0.02 1.977137 TAAxTAT COVERED NOVEL ELTD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000026859.1 0 2.407553 KEEP 0 0 0 8 261 AA 0.99257 0.991893 0 - 5 60 190 0 0 13.236645 76 60 2759 95 ENST00000370742.3 0.061728 0.999317 LPHN2 23266 __UNKNOWN__ __UNKNOWN__ 1 81967962 81967962 __UNKNOWN__ Intron SNP T T C rs1044343 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:81967962T>C ENST00000370728.1 + 2 398 LPHN2_ENST00000370730.1_Intron|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370725.1_Intron|LPHN2_ENST00000370727.1_Intron|LPHN2_ENST00000370723.1_Intron|LPHN2_ENST00000370721.1_Intron O95490 LPHN2_HUMAN latrophilin 2 NA NA G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524) NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) CAAGGCCTCATCTTCTGTCTC 0.537 NA -||| 2587 0.516573 0.764 0.4207 5008 , , NA 15214 0.5595 NA 0.2714 False NA ,,, NA NA NA 2504 0.4581 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ131581 CCDS689.1, CCDS72811.1 1p31.1 2014-08-08 2003-03-17 2003-05-02 ENSG00000117114 ENSG00000117114 23266 -, GPCR / Class B : Orphans 18582 protein-coding gene gene with protein product 607018 latrophilin 1 LPHH1 NA 10760572 Standard NM_012302 XR_248786 NA Approved KIAA0786, LEC1 uc001diu.3 O95490 OTTHUMG00000009844 ENST00000370728.1:c.-248+57188T>C chr1.hg19:g.81967962T>C NA A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6 hg19 0.02 4.229798 TCAxCTT COVERED NOVEL LPHN2-007 KNOWN non_canonical_conserved|not_organism_supported|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000027188.1 0 4.51362 KEEP 0 0 0 15 479 TT 0.99649 0.99649 0 + 5 60 177 0 0 10.693803 137 60 5067 189 ENST00000370728.1 0.035211 1 LPHN2 23266 __UNKNOWN__ __UNKNOWN__ 1 81967987 81967987 __UNKNOWN__ Intron SNP T T C rs1324376 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:81967987T>C ENST00000370728.1 + 2 398 LPHN2_ENST00000370730.1_Intron|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370725.1_Intron|LPHN2_ENST00000370727.1_Intron|LPHN2_ENST00000370723.1_Intron|LPHN2_ENST00000370721.1_Intron O95490 LPHN2_HUMAN latrophilin 2 NA NA G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524) NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) GCAGGACAGCTGAACTGGAAT 0.527 NA -||| 2564 0.511981 0.7481 0.4164 5008 , , NA 16503 0.5605 NA 0.2714 False NA ,,, NA NA NA 2504 0.4581 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ131581 CCDS689.1, CCDS72811.1 1p31.1 2014-08-08 2003-03-17 2003-05-02 ENSG00000117114 ENSG00000117114 23266 -, GPCR / Class B : Orphans 18582 protein-coding gene gene with protein product 607018 latrophilin 1 LPHH1 NA 10760572 Standard NM_012302 XR_248786 NA Approved KIAA0786, LEC1 uc001diu.3 O95490 OTTHUMG00000009844 ENST00000370728.1:c.-248+57213T>C chr1.hg19:g.81967987T>C NA A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6 hg19 0.02 3.30592 AGCxGAA COVERED NOVEL LPHN2-007 KNOWN non_canonical_conserved|not_organism_supported|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000027188.1 0 4.51312 KEEP 0 0 0 15 468 TT 0.99649 0.99649 0 + 7 60 235 0 0 14.66884 138 60 5230 199 ENST00000370728.1 0.048276 1 LPHN2 23266 __UNKNOWN__ __UNKNOWN__ 1 81969071 81969071 __UNKNOWN__ Intron SNP A A T rs4650561 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:81969071A>T ENST00000370728.1 + 2 398 LPHN2_ENST00000370730.1_Intron|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370725.1_Intron|LPHN2_ENST00000370727.1_Intron|LPHN2_ENST00000370723.1_Intron|LPHN2_ENST00000370721.1_Intron O95490 LPHN2_HUMAN latrophilin 2 NA NA G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524) NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) cgccagcagcagcagcagcTC 0.652 NA -||| 748 0.149361 0.0461 0.1844 5008 , , NA 17992 0.1984 NA 0.161 False NA ,,, NA NA NA 2504 0.2014 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ131581 CCDS689.1, CCDS72811.1 1p31.1 2014-08-08 2003-03-17 2003-05-02 ENSG00000117114 ENSG00000117114 23266 -, GPCR / Class B : Orphans 18582 protein-coding gene gene with protein product 607018 latrophilin 1 LPHH1 NA 10760572 Standard NM_012302 XR_248786 NA Approved KIAA0786, LEC1 uc001diu.3 O95490 OTTHUMG00000009844 ENST00000370728.1:c.-248+58297A>T chr1.hg19:g.81969071A>T NA A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6 hg19 0.02 4.250341 AGCxGCA COVERED NOVEL LPHN2-007 KNOWN non_canonical_conserved|not_organism_supported|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000027188.1 0 8.42395 KEEP 13 0 0 28 870 AA 0.999879 0.999876 0 + 5 40 176 0 0 11.028149 112 60 4049 176 ENST00000370728.1 0.042735 0.999998 LPHN2 23266 __UNKNOWN__ __UNKNOWN__ 1 81969952 81969952 __UNKNOWN__ Intron SNP C C T rs4369270 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:81969952C>T ENST00000370728.1 + 2 398 LPHN2_ENST00000370730.1_Intron|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370725.1_Intron|LPHN2_ENST00000370727.1_Intron|LPHN2_ENST00000370723.1_Intron|LPHN2_ENST00000370721.1_Intron O95490 LPHN2_HUMAN latrophilin 2 NA NA G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524) NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) CTCATCCTTTCCCcagccctc 0.577 NA -||| 1034 0.20647 0.2579 0.1974 5008 , , NA 13989 0.2004 NA 0.1561 False NA ,,, NA NA NA 2504 0.2014 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ131581 CCDS689.1, CCDS72811.1 1p31.1 2014-08-08 2003-03-17 2003-05-02 ENSG00000117114 ENSG00000117114 23266 -, GPCR / Class B : Orphans 18582 protein-coding gene gene with protein product 607018 latrophilin 1 LPHH1 NA 10760572 Standard NM_012302 XR_248786 NA Approved KIAA0786, LEC1 uc001diu.3 O95490 OTTHUMG00000009844 ENST00000370728.1:c.-248+59178C>T chr1.hg19:g.81969952C>T NA A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6 hg19 0.02 13.51672 TTTxCCC COVERED NOVEL LPHN2-007 KNOWN non_canonical_conserved|not_organism_supported|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000027188.1 5 19.563322 KEEP 0 0 0 65 2296 CC 1 1 0 + 13 60 444 0 0 26.449937 340 60 12615 514 ENST00000370728.1 0.036827 1 LPHN2 23266 __UNKNOWN__ __UNKNOWN__ 1 81970500 81970500 __UNKNOWN__ Intron SNP C C G rs6660391 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:81970500C>G ENST00000370728.1 + 2 398 LPHN2_ENST00000370730.1_Intron|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370725.1_Intron|LPHN2_ENST00000370727.1_Intron|LPHN2_ENST00000370723.1_Intron|LPHN2_ENST00000370721.1_Intron O95490 LPHN2_HUMAN latrophilin 2 NA NA G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524) NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) AGGGCACAGGCAGGCTGGGGT 0.637 NA -||| 884 0.176518 0.1339 0.1945 5008 , , NA 15634 0.1994 NA 0.159 False NA ,,, NA NA NA 2504 0.2157 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ131581 CCDS689.1, CCDS72811.1 1p31.1 2014-08-08 2003-03-17 2003-05-02 ENSG00000117114 ENSG00000117114 23266 -, GPCR / Class B : Orphans 18582 protein-coding gene gene with protein product 607018 latrophilin 1 LPHH1 NA 10760572 Standard NM_012302 XR_248786 NA Approved KIAA0786, LEC1 uc001diu.3 O95490 OTTHUMG00000009844 ENST00000370728.1:c.-248+59726C>G chr1.hg19:g.81970500C>G NA A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6 hg19 0.02 1.78896 AGGxAGG COVERED NOVEL LPHN2-007 KNOWN non_canonical_conserved|not_organism_supported|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000027188.1 1 5.417467 KEEP 18 0 0 18 635 CC 0.993072 0.975153 0 + 4 50 129 0 0 8.52273 53 45 1966 101 ENST00000370728.1 0.070175 0.981955 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 84038771 84038771 __UNKNOWN__ IGR SNP G G A rs72944298 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:84038771G>A NA NA RP11-413G15.1 (118317 upstream) : RP11-475O6.1 (2687 downstream) NA NA NA GTGCAAGAGAGCTGAACAGTG 0.418 NA G||| 822 0.164137 0.1528 0.1254 5008 , , NA 18040 0.2718 NA 0.1581 False NA ,,, NA NA NA 2504 0.1022 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.84038771G>A NA hg19 0.02 1.969903 AGAxCTG COVERED NOVEL 0 1 5.417668 KEEP 0 0 0 18 640 GG 0.999859 0.999266 0 4 60 147 0 0 9.673511 78 60 2953 113 0.04878 0.999407 TTLL7 79739 __UNKNOWN__ __UNKNOWN__ 1 84335412 84335412 __UNKNOWN__ 3'UTR SNP C C T rs1132122 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:84335412C>T ENST00000260505.8 - 0 3274 TTLL7_ENST00000477524.1_5'UTR NM_024686.4 NP_078962.4 Q6ZT98 TTLL7_HUMAN tubulin tyrosine ligase-like family, member 7 NA NA cell differentiation (GO:0030154)|nervous system development (GO:0007399)|protein polyglutamylation (GO:0018095) cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856) ligase activity (GO:0016874) kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16) TGGTTTATTACGTTTCCAGAA 0.269 NA c||| 2003 0.39996 0.4803 0.3098 5008 , , NA 15580 0.6022 NA 0.1859 False NA ,,, NA NA NA 2504 0.3671 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY170843 CCDS690.2 1p31.1 2013-02-14 ENSG00000137941 ENSG00000137941 79739 Tubulin tyrosine ligase-like family 26242 protein-coding gene gene with protein product NA 15890843 Standard NM_024686 XM_005271208 NA Approved FLJ23033 uc001djc.3 Q6ZT98 OTTHUMG00000009932 ENST00000260505.8:c.*233G>A chr1.hg19:g.84335412C>T NA Q5TAX8|Q5TAX9|Q6P990|Q86YS1|Q9H5U4 hg19 CCDS690.2 0.02 6.325245 TTAxGTT COVERED NOVEL TTLL7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000027498.1 2 2.442109 KEEP 0 1 31 19 636 CC 0.999863 0.999863 0 - 8 60 298 0 0 19.738947 156 60 5289 212 ENST00000260505.8 0.04878 1 DNASE2B 58511 __UNKNOWN__ __UNKNOWN__ 1 84880380 84880380 __UNKNOWN__ Silent SNP T T C rs3768250 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:84880380T>C ENST00000370665.3 + 6 948 c.915T>C c.(913-915)caT>caC p.H305H DNASE2B_ENST00000370662.3_Silent_p.H97H NM_021233.2 NP_067056.2 Q8WZ79 DNS2B_HUMAN deoxyribonuclease II beta 305 NA apoptotic DNA fragmentation (GO:0006309) extracellular region (GO:0005576)|intracellular (GO:0005622)|lysosome (GO:0005764) deoxyribonuclease II activity (GO:0004531) endometrium(1)|lung(4)|skin(1) 6 all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808) ATCAAGATCATGCCAAGTGGT 0.413 NA T||| 1622 0.323882 0.2065 0.3573 5008 , , NA 20886 0.4554 NA 0.334 False NA ,,, NA NA NA 2504 0.3129 NA NA NA Pancreas(54;788 1175 11852 16034 30034) NA 0 T , 1037,3369 383.2+/-324.8 123,791,1289 62 60 60 915,291 3 1 1 dbSNP_107 60 3033,5567 466.5+/-366.8 548,1937,1815 no coding-synonymous,coding-synonymous DNASE2B NM_021233.2,NM_058248.1 , 671,2728,3104 CC,CT,TT 35.2674,23.5361,31.2932 , 305/362,97/154 84880380 4070,8936 2203 4300 6503 SO:0001819 synonymous_variant AF274571 CCDS694.1, CCDS44167.1 1p22.3 2008-02-05 ENSG00000137976 ENSG00000137976 58511 28875 protein-coding gene gene with protein product 608057 NA 12594037, 11376952 Standard NM_021233 NM_021233 NA Approved DLAD uc001djt.1 Q8WZ79 OTTHUMG00000009860 ENST00000370665.3:c.915T>C chr1.hg19:g.84880380T>C NA Q5VXD0|Q5VXD1|Q8WZ80|Q9NQW3 hg19 CCDS44167.1 0.02 15.340733 TCAxGCC COVERED NOVEL DNASE2B-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000027248.1 1 14.443878 KEEP 0 0 0 48 1514 TT 1 1 0 + 16 60 580 0 0 36.545666 380 60 14064 515 ENST00000370665.3 0.040404 1 RPF1 80135 __UNKNOWN__ __UNKNOWN__ 1 84944989 84944989 __UNKNOWN__ Missense_Mutation SNP A A G rs2292191 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:84944989A>G ENST00000370654.5 + 1 40 c.25A>G c.(25-27)Agc>Ggc p.S9G RPF1_ENST00000370656.1_Missense_Mutation_p.S9G NM_025065.6 NP_079341.2 Q9H9Y2 RPF1_HUMAN ribosome production factor 1 homolog (S. cerevisiae) 9 NA S -> G (in dbSNP:rs2292191). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}. rRNA processing (GO:0006364) nucleolus (GO:0005730) poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843) breast(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(2)|prostate(1) 14 GGATAAGAGCAGCAGCAGCGG 0.562 NA A||| 2456 0.490415 0.2005 0.4625 5008 , , NA 16132 0.7331 NA 0.6571 False NA ,,, NA NA NA 2504 0.4806 NA NA NA NA 0 A GLY/SER 1170,3232 171,828,1202 27 27 27 25 3.3 0 1 dbSNP_100 27 5447,3149 1753,1941,604 yes missense RPF1 NM_025065.6 56 1924,2769,1806 GG,GA,AA 36.6333,26.5788,49.0922 benign 9/350 84944989 6617,6381 2201 4298 6499 SO:0001583 missense AF322053 CCDS695.1 1p22.3 2009-09-25 2009-09-25 2009-09-25 ENSG00000117133 ENSG00000117133 80135 30350 protein-coding gene gene with protein product RNA processing factor 1, ribosome production factor 1 brix domain containing 5 BXDC5 NA 11864606 Standard NM_025065 NM_025065 NA Approved uc001djv.4 Q9H9Y2 OTTHUMG00000009857 ENST00000370654.5:c.25A>G chr1.hg19:g.84944989A>G ENSP00000359688:p.Ser9Gly NA Q5VSK7|Q6AHX1|Q8WXZ8 hg19 CCDS695.1 0.02 8.475676 AGCxGCA COVERED 1205 0.5517399267399268 100 0.2032520325203252 173 0.47790055248618785 435 0.7604895104895105 497 0.6556728232189973 A 0.020 -1.436253 0.01108 0.265788 0.633667 ENSG00000117133 ENST00000370656;ENST00000370654 T;T 0.42131 0.98;1.57 5.35 3.35 0.38373 . 0.559652 0.19699 N 0.108091 T 0.07324 0.0185 N 0.08118 0 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.29305 -1.0016 9 0.18276 T 0.48 0.3307 7.4489 0.27227 0.3111:0.0:0.6889:0.0 rs2292191;rs17365495;rs17851375;rs2292191 9 Q9H9Y2 RPF1_HUMAN G 9 ENSP00000359690:S9G;ENSP00000359688:S9G ENSP00000359688:S9G S + 1 0 RPF1 84717577 0.026000 0.19158 0.022000 0.16811 0.058000 0.15608 1.873000 0.39558 0.545000 0.28902 -0.290000 0.09829 AGC NOVEL RPF1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000027238.1 1 19.160368 KEEP 0 3 104 100 3082 AA 1 1 0 + 11 60 389 0 0 24.606482 237 60 8878 425 ENST00000370654.5 0.044355 1 SSX2IP 117178 __UNKNOWN__ __UNKNOWN__ 1 85113203 85113203 __UNKNOWN__ Silent SNP T T C rs2994949 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:85113203T>C ENST00000342203.3 - 14 2021 c.1758A>G c.(1756-1758)gcA>gcG p.A586A SSX2IP_ENST00000605755.1_Silent_p.A559A|SSX2IP_ENST00000437941.2_Silent_p.A559A NM_001166293.1|NM_001166294.1|NM_014021.3 NP_001159765.1|NP_001159766.1|NP_054740.3 Q9Y2D8 ADIP_HUMAN synovial sarcoma, X breakpoint 2 interacting protein 586 NA cell adhesion (GO:0007155)|centrosome organization (GO:0051297)|regulation of cell motility (GO:2000145)|regulation of Rac protein signal transduction (GO:0035020) cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|centriolar satellite (GO:0034451)|nucleus (GO:0005634)|protein complex (GO:0043234) endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1) 19 all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173) CAGGTCTTGATGCCACACTCC 0.393 NA C||| 3819 0.76258 0.6135 0.8588 5008 , , NA 17885 0.7917 NA 0.8787 False NA ,,, NA NA NA 2504 0.7464 NA NA NA NA 0 C ,,,, 2821,1585 494.8+/-363.1 904,1013,286 264 214 231 1758,1677,1677,1758,1758 -11.7 0 1 dbSNP_101 231 7289,1309 258.8+/-282.3 3085,1119,95 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous SSX2IP NM_001166293.1,NM_001166294.1,NM_001166295.1,NM_001166417.1,NM_014021.3 ,,,, 3989,2132,381 CC,CT,TT 15.2245,35.9737,22.2547 ,,,, 586/615,559/588,559/588,586/615,586/615 85113203 10110,2894 2203 4299 6502 SO:0001819 synonymous_variant CCDS699.1, CCDS53337.1 1p22.3 2008-02-05 ENSG00000117155 ENSG00000117155 117178 16509 protein-coding gene gene with protein product 608690 NA Standard NM_014021 NM_014021 NA Approved uc001dkj.3 Q9Y2D8 OTTHUMG00000009926 ENST00000342203.3:c.1758A>G chr1.hg19:g.85113203T>C NA A8K8W0|B4DFE3|D3DT13|J3KR02|Q6P2P8|Q6ULS1|Q7L168|Q9UIX0 hg19 CCDS699.1 0.02 13.857034 TGAxGCC COVERED NOVEL SSX2IP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000027469.1 2 7.357801 KEEP 0 1 36 37 1178 TT 1 1 0 - 15 60 539 0 0 34.636993 312 60 11678 470 ENST00000342203.3 0.045872 1 SSX2IP 117178 __UNKNOWN__ __UNKNOWN__ 1 85113229 85113229 __UNKNOWN__ Missense_Mutation SNP A A G rs1057746 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:85113229A>G ENST00000342203.3 - 14 1995 c.1732T>C c.(1732-1734)Tgt>Cgt p.C578R SSX2IP_ENST00000605755.1_Missense_Mutation_p.C551R|SSX2IP_ENST00000437941.2_Missense_Mutation_p.C551R NM_001166293.1|NM_001166294.1|NM_014021.3 NP_001159765.1|NP_001159766.1|NP_054740.3 Q9Y2D8 ADIP_HUMAN synovial sarcoma, X breakpoint 2 interacting protein 578 NA C -> R (in dbSNP:rs1057746). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:17974005}. cell adhesion (GO:0007155)|centrosome organization (GO:0051297)|regulation of cell motility (GO:2000145)|regulation of Rac protein signal transduction (GO:0035020) cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|centriolar satellite (GO:0034451)|nucleus (GO:0005634)|protein complex (GO:0043234) endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1) 19 all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173) TGATTTGTACATTCTCCTCCA 0.388 NA A||| 2567 0.51258 0.2458 0.5346 5008 , , NA 17943 0.7034 NA 0.6521 False NA ,,, NA NA NA 2504 0.5174 NA NA NA NA 0 A ARG/CYS,ARG/CYS,ARG/CYS,ARG/CYS,ARG/CYS 1297,3109 439.2+/-345.6 195,907,1101 247 199 215 1732,1651,1651,1732,1732 2.2 0.9 1 dbSNP_86 215 5425,3175 653.7+/-401.1 1728,1969,603 yes missense,missense,missense,missense,missense SSX2IP NM_001166293.1,NM_001166294.1,NM_001166295.1,NM_001166417.1,NM_014021.3 180,180,180,180,180 1923,2876,1704 GG,GA,AA 36.9186,29.4371,48.3162 benign,benign,benign,benign,benign 578/615,551/588,551/588,578/615,578/615 85113229 6722,6284 2203 4300 6503 SO:0001583 missense CCDS699.1, CCDS53337.1 1p22.3 2008-02-05 ENSG00000117155 ENSG00000117155 117178 16509 protein-coding gene gene with protein product 608690 NA Standard NM_014021 NM_014021 NA Approved uc001dkj.3 Q9Y2D8 OTTHUMG00000009926 ENST00000342203.3:c.1732T>C chr1.hg19:g.85113229A>G ENSP00000340279:p.Cys578Arg NA A8K8W0|B4DFE3|D3DT13|J3KR02|Q6P2P8|Q6ULS1|Q7L168|Q9UIX0 hg19 CCDS699.1 0.02 12.591705 TACxTTC COVERED 1215 0.5563186813186813 116 0.23577235772357724 200 0.5524861878453039 399 0.6975524475524476 500 0.6596306068601583 A 10.57 1.387185 0.25031 0.294371 0.630814 ENSG00000117155 ENST00000342203;ENST00000437941 T;T 0.48836 0.81;0.8 5.86 2.16 0.27623 . 0.378812 0.26248 N 0.025466 T 0.11965 0.0291 N 0.22421 0.69 0.09310 P 0.99999999713442 B 0.14438 0.01 B 0.14023 0.01 T 0.09250 -1.0683 9 0.46703 T 0.11 -2.7955 3.5408 0.07811 0.6564:0.1353:0.0712:0.1371 rs1057746;rs3198288;rs17838125;rs1057746 578 Q9Y2D8 ADIP_HUMAN R 578;551 ENSP00000340279:C578R;ENSP00000412781:C551R ENSP00000340279:C578R C - 1 0 SSX2IP 84885817 0.750000 0.28316 0.925000 0.36789 0.616000 0.37450 1.041000 0.30291 0.103000 0.17682 0.533000 0.62120 TGT NOVEL SSX2IP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000027469.1 2 7.356999 KEEP 0 1 33 36 1136 AA 1 1 0 - 12 60 426 0 0 26.250325 300 60 11271 442 ENST00000342203.3 0.038462 1 SSX2IP 117178 __UNKNOWN__ __UNKNOWN__ 1 85121255 85121255 __UNKNOWN__ Intron SNP A A G rs4537578 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:85121255A>G ENST00000342203.3 - 11 1653 SSX2IP_ENST00000605755.1_Intron|SSX2IP_ENST00000603677.1_Intron|SSX2IP_ENST00000437941.2_Intron|SSX2IP_ENST00000370612.4_Intron NM_001166293.1|NM_001166294.1|NM_014021.3 NP_001159765.1|NP_001159766.1|NP_054740.3 Q9Y2D8 ADIP_HUMAN synovial sarcoma, X breakpoint 2 interacting protein NA NA cell adhesion (GO:0007155)|centrosome organization (GO:0051297)|regulation of cell motility (GO:2000145)|regulation of Rac protein signal transduction (GO:0035020) cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|centriolar satellite (GO:0034451)|nucleus (GO:0005634)|protein complex (GO:0043234) endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1) 19 all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173) TAAAACACTTAGCAGGAGAAA 0.378 NA A||| 2577 0.514577 0.2542 0.5346 5008 , , NA 16350 0.7034 NA 0.6521 False NA ,,, NA NA NA 2504 0.5164 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS699.1, CCDS53337.1 1p22.3 2008-02-05 ENSG00000117155 ENSG00000117155 117178 16509 protein-coding gene gene with protein product 608690 NA Standard NM_014021 NM_014021 NA Approved uc001dkj.3 Q9Y2D8 OTTHUMG00000009926 ENST00000342203.3:c.1389+259T>C chr1.hg19:g.85121255A>G NA A8K8W0|B4DFE3|D3DT13|J3KR02|Q6P2P8|Q6ULS1|Q7L168|Q9UIX0 hg19 CCDS699.1 0.02 6.957247 CTTxGCA COVERED 1222 0.5595238095238095 123 0.25 200 0.5524861878453039 399 0.6975524475524476 500 0.6596306068601583 A 6.740 0.505305 0.12822 . . ENSG00000117155 ENST00000544699 . . . 3.92 1.46 0.22682 . . . . . T 0.23532 0.0569 . . . 0.80722 P 0.0 P 0.39022 0.655 B 0.39840 0.311 T 0.03852 -1.0998 6 0.62326 D 0.03 . 8.0465 0.30553 0.587:0.413:0.0:0.0 rs4537578;rs4537578 465 F5H549 . P 465 . ENSP00000444731:L465P L - 2 0 SSX2IP 84893843 0.000000 0.05858 0.000000 0.03702 0.011000 0.07611 0.328000 0.19681 0.290000 0.22444 0.460000 0.39030 CTA NOVEL SSX2IP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000027469.1 0 11.133215 KEEP 0 0 0 37 1156 AA 1 1 0 - 10 60 381 0 0 26.029184 173 60 6459 279 ENST00000342203.3 0.054645 1 LPAR3 23566 __UNKNOWN__ __UNKNOWN__ 1 85279077 85279077 __UNKNOWN__ 3'UTR SNP C C T rs9729018 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:85279077C>T ENST00000440886.1 - 0 1552 Q9UBY5 LPAR3_HUMAN lysophosphatidic acid receptor 3 NA NA activation of MAPK activity (GO:0000187)|bleb assembly (GO:0032060)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|synaptic transmission (GO:0007268) axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1) 24 AGGAAAAAAACACCATTGCTG 0.358 NA T||| 3934 0.785543 0.8775 0.7277 5008 , , NA 12012 0.7639 NA 0.7465 False NA ,,, NA NA NA 2504 0.7648 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF127138 CCDS700.1 1p22.3 2012-08-08 2008-04-11 2008-04-11 ENSG00000171517 ENSG00000171517 23566 GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid 14298 protein-coding gene gene with protein product 605106 endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 7 EDG7 NA 10488122 Standard NM_012152 NM_012152 NA Approved LP-A3, Edg-7, RP4-678I3, HOFNH30, LPA3 uc009wcj.1 Q9UBY5 OTTHUMG00000009925 ENST00000440886.1:c.*452G>A chr1.hg19:g.85279077C>T NA A0AVA3 hg19 CCDS700.1 0.02 5.842929 AAAxACC COVERED NOVEL LPAR3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000027467.1 1 9.631554 KEEP 0 0 0 32 1149 CC 0.999997 0.999997 0 - 7 60 240 0 0 14.414193 178 60 6746 266 ENST00000440886.1 0.037838 1 MCOLN2 255231 __UNKNOWN__ __UNKNOWN__ 1 85422061 85422061 __UNKNOWN__ Intron SNP C C T rs632545 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:85422061C>T ENST00000284027.5 - 4 593 MCOLN2_ENST00000370608.3_Intron|MCOLN2_ENST00000531325.1_Intron Q8IZK6 MCLN2_HUMAN mucolipin 2 NA NA calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2) 18 all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217) GAGGGCATTTCTGCTCTTACC 0.458 NA T||| 2770 0.553115 0.5545 0.5418 5008 , , NA 18926 0.6607 NA 0.4861 False NA ,,, NA NA NA 2504 0.5174 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK094010 CCDS30762.1 1p22 2011-12-16 ENSG00000153898 ENSG00000153898 255231 Voltage-gated ion channels / Transient receptor potential cation channels 13357 protein-coding gene gene with protein product 607399 NA 16382100 Standard NM_153259 XM_005270719 NA Approved TRPML2, FLJ36691, TRP-ML2 uc001dkm.3 Q8IZK6 OTTHUMG00000009954 ENST00000284027.5:c.481+52G>A chr1.hg19:g.85422061C>T NA A6NI99|Q2M3I6|Q5TAG5|Q8N9R3 hg19 0.02 11.340326 TTTxTGC COVERED NOVEL MCOLN2-005 PUTATIVE basic|appris_principal protein_coding NA protein_coding OTTHUMT00000382117.1 1 8.728474 KEEP 0 0 0 29 1034 CC 0.999997 0.999997 0 - 13 60 447 0 0 26.940914 328 60 12305 433 ENST00000284027.5 0.038123 1 C1orf52 148423 __UNKNOWN__ __UNKNOWN__ 1 85725032 85725032 __UNKNOWN__ Intron SNP G G T rs75231029 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:85725032G>T ENST00000471115.1 - 1 285 C1orf52_ENST00000294661.4_Intron|C1orf52_ENST00000344356.5_Intron NM_198077.3 NP_932343.1 Q8N6N3 CA052_HUMAN chromosome 1 open reading frame 52 NA NA poly(A) RNA binding (GO:0044822) endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1) 10 all cancers(265;0.0105)|Epithelial(280;0.0293) ACGGGGTCGGGGACCTCACCT 0.652 NA G||| 350 0.0698882 0.0023 0.0447 5008 , , NA 9995 0.1468 NA 0.0527 False NA ,,, NA NA NA 2504 0.1176 NA NA NA NA 0 G 58,4348 54.9+/-90.9 0,58,2145 46 52 50 0.4 0.2 1 dbSNP_132 50 484,8116 140.1+/-196.7 18,448,3834 no intron C1orf52 NM_198077.3 18,506,5979 TT,TG,GG 5.6279,1.3164,4.1673 85725032 542,12464 2203 4300 6503 SO:0001627 intron_variant BC029538 CCDS703.1 1p22.3 2008-02-05 ENSG00000162642 ENSG00000162642 148423 24871 protein-coding gene gene with protein product NA 11891061 Standard NM_198077 NM_198077 NA Approved gm117, FLJ44982 uc001dkv.3 Q8N6N3 OTTHUMG00000009966 ENST00000471115.1:c.276+8C>A chr1.hg19:g.85725032G>T NA B3KX89|Q8TDK5|Q8TDK6 hg19 CCDS703.1 0.02 4.05008 CGGxGAC COVERED NOVEL C1orf52-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000027616.2 1 28.893497 KEEP 0 0 0 96 3402 GG 1 0.999998 0 - 7 60 245 0 0 16.336433 110 60 3985 295 ENST00000471115.1 0.059829 0.999998 BCL10 8915 __UNKNOWN__ __UNKNOWN__ 1 85732065 85732065 __UNKNOWN__ 3'UTR SNP A A G rs1060846 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:85732065A>G ENST00000370580.1 - 0 2684 NM_003921.4 NP_003912.1 O95999 BCL10_HUMAN B-cell CLL/lymphoma 10 NA NA adaptive immune response (GO:0002250)|B cell apoptotic process (GO:0001783)|cell death (GO:0008219)|cellular defense response (GO:0006968)|cellular response to mechanical stimulus (GO:0071260)|Fc-epsilon receptor signaling pathway (GO:0038095)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interleukin-6 biosynthetic process (GO:0042226)|lymphotoxin A biosynthetic process (GO:0042109)|negative regulation of mature B cell apoptotic process (GO:0002906)|neural tube closure (GO:0001843)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of mast cell cytokine production (GO:0032765)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|regulation of T cell receptor signaling pathway (GO:0050856)|response to food (GO:0032094)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell apoptotic process (GO:0070231)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor signaling pathway (GO:0002224) CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|lysosome (GO:0005764)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234) enzyme binding (GO:0019899)|kinase binding (GO:0019900)|NF-kappaB binding (GO:0051059)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625) haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 19 all cancers(265;0.0114)|Epithelial(280;0.0311) CAGTGAGAGCATAAGATTTAT 0.254 NA T IGH@ MALT A||| 2273 0.453874 0.3676 0.3631 5008 , , NA 15280 0.4534 NA 0.4543 False NA ,,, NA NA NA 2504 0.635 NA NA NA NSCLC(34;993 1034 12176 32621 50182) Dom yes 1 1p22 8915 B-cell CLL/lymphoma 10 L 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ006288 CCDS704.1 1p22 2008-07-18 ENSG00000142867 ENSG00000142867 8915 989 protein-coding gene gene with protein product CARD-like apoptotic protein, CARD-containing apoptotic signaling protein, CARD containing molecule enhancing NF-kB, caspase-recruiting domain-containing protein, CARD-containing proapoptotic protein 603517 NA 9989495 Standard NM_003921 NM_003921 NA Approved CARMEN, CIPER, mE10, c-E10, CLAP uc021opd.1 O95999 OTTHUMG00000009965 ENST00000370580.1:c.*1245T>C chr1.hg19:g.85732065A>G NA Q5VUF1 hg19 CCDS704.1 0.02 6.816662 AGCxTAA COVERED NOVEL BCL10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000027612.1 0 11.470259 KEEP 0 1 37 51 1632 AA 1 1 0 - 13 60 450 0 0 30.355728 186 60 6925 315 ENST00000370580.1 0.065327 1 BCL10 8915 __UNKNOWN__ __UNKNOWN__ 1 85732941 85732941 __UNKNOWN__ 3'UTR SNP A A C rs962409 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:85732941A>C ENST00000370580.1 - 0 1808 NM_003921.4 NP_003912.1 O95999 BCL10_HUMAN B-cell CLL/lymphoma 10 NA NA adaptive immune response (GO:0002250)|B cell apoptotic process (GO:0001783)|cell death (GO:0008219)|cellular defense response (GO:0006968)|cellular response to mechanical stimulus (GO:0071260)|Fc-epsilon receptor signaling pathway (GO:0038095)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interleukin-6 biosynthetic process (GO:0042226)|lymphotoxin A biosynthetic process (GO:0042109)|negative regulation of mature B cell apoptotic process (GO:0002906)|neural tube closure (GO:0001843)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of mast cell cytokine production (GO:0032765)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|regulation of T cell receptor signaling pathway (GO:0050856)|response to food (GO:0032094)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell apoptotic process (GO:0070231)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor signaling pathway (GO:0002224) CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|lysosome (GO:0005764)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234) enzyme binding (GO:0019899)|kinase binding (GO:0019900)|NF-kappaB binding (GO:0051059)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625) haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 19 all cancers(265;0.0114)|Epithelial(280;0.0311) AAAGACTATTAGACTCTTGAA 0.358 NA T IGH@ MALT A||| 2256 0.450479 0.3669 0.3631 5008 , , NA 17112 0.4395 NA 0.4543 False NA ,,, NA NA NA 2504 0.6329 NA NA NA NSCLC(34;993 1034 12176 32621 50182) Dom yes 1 1p22 8915 B-cell CLL/lymphoma 10 L 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ006288 CCDS704.1 1p22 2008-07-18 ENSG00000142867 ENSG00000142867 8915 989 protein-coding gene gene with protein product CARD-like apoptotic protein, CARD-containing apoptotic signaling protein, CARD containing molecule enhancing NF-kB, caspase-recruiting domain-containing protein, CARD-containing proapoptotic protein 603517 NA 9989495 Standard NM_003921 NM_003921 NA Approved CARMEN, CIPER, mE10, c-E10, CLAP uc021opd.1 O95999 OTTHUMG00000009965 ENST00000370580.1:c.*369T>G chr1.hg19:g.85732941A>C NA Q5VUF1 hg19 CCDS704.1 0.02 7.26898 ATTxGAC COVERED NOVEL BCL10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000027612.1 1 10.899219 KEEP 0 2 68 60 1858 AA 1 1 0 - 11 60 397 0 0 26.634224 182 60 6757 329 ENST00000370580.1 0.056995 1 BCL10 8915 __UNKNOWN__ __UNKNOWN__ 1 85733374 85733374 __UNKNOWN__ Missense_Mutation SNP C C T rs3768235 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:85733374C>T ENST00000370580.1 - 3 1375 c.638G>A c.(637-639)gGa>gAa p.G213E NM_003921.4 NP_003912.1 O95999 BCL10_HUMAN B-cell CLL/lymphoma 10 213 NA G -> E (in MALT lymphoma and mesothelioma; dbSNP:rs3768235). {ECO:0000269|PubMed:10319863, ECO:0000269|PubMed:10380921}. adaptive immune response (GO:0002250)|B cell apoptotic process (GO:0001783)|cell death (GO:0008219)|cellular defense response (GO:0006968)|cellular response to mechanical stimulus (GO:0071260)|Fc-epsilon receptor signaling pathway (GO:0038095)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interleukin-6 biosynthetic process (GO:0042226)|lymphotoxin A biosynthetic process (GO:0042109)|negative regulation of mature B cell apoptotic process (GO:0002906)|neural tube closure (GO:0001843)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of mast cell cytokine production (GO:0032765)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|regulation of T cell receptor signaling pathway (GO:0050856)|response to food (GO:0032094)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell apoptotic process (GO:0070231)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor signaling pathway (GO:0002224) CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|lysosome (GO:0005764)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234) enzyme binding (GO:0019899)|kinase binding (GO:0019900)|NF-kappaB binding (GO:0051059)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625) p.G213E(1) haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 19 all cancers(265;0.0114)|Epithelial(280;0.0311) TGCACAAGTTCCTTCTTCTTC 0.418 NA T IGH@ MALT C||| 361 0.0720847 0.0023 0.0447 5008 , , NA 14270 0.1538 NA 0.0527 False NA ,,, NA NA NA 2504 0.1217 NA NA NA NSCLC(34;993 1034 12176 32621 50182) Dom yes 1 1p22 8915 B-cell CLL/lymphoma 10 L 1 Substitution - Missense(1) stomach(1) C GLU/GLY 58,4348 55.5+/-91.7 0,58,2145 74 78 77 638 -0.9 0.6 1 dbSNP_107 77 487,8113 139.4+/-196.0 19,449,3832 yes missense BCL10 NM_003921.4 98 19,507,5977 TT,TC,CC 5.6628,1.3164,4.1904 benign 213/234 85733374 545,12461 2203 4300 6503 SO:0001583 missense AJ006288 CCDS704.1 1p22 2008-07-18 ENSG00000142867 ENSG00000142867 8915 989 protein-coding gene gene with protein product CARD-like apoptotic protein, CARD-containing apoptotic signaling protein, CARD containing molecule enhancing NF-kB, caspase-recruiting domain-containing protein, CARD-containing proapoptotic protein 603517 NA 9989495 Standard NM_003921 NM_003921 NA Approved CARMEN, CIPER, mE10, c-E10, CLAP uc021opd.1 O95999 OTTHUMG00000009965 ENST00000370580.1:c.638G>A chr1.hg19:g.85733374C>T ENSP00000359612:p.Gly213Glu NA Q5VUF1 hg19 CCDS704.1 0.02 6.881632 GTTxCTT COVERED 160 0.07326007326007326 3 0.006097560975609756 21 0.058011049723756904 99 0.17307692307692307 37 0.048812664907651716 C 14.86 2.661528 0.47572 0.013164 0.056628 ENSG00000142867 ENST00000370580;ENST00000271015 . . . 5.52 -0.914 0.10497 . 1.081190 0.06839 N 0.795318 T 0.03959 0.0111 N 0.03608 -0.345 0.51482 P 7.500000000004725E-5 B 0.02656 0.0 B 0.01281 0.0 T 0.36866 -0.9730 8 0.12766 T 0.61 -6.0907 5.2652 0.15595 0.1443:0.3063:0.0:0.5494 rs3768235;rs3768235 213 O95999 BCL10_HUMAN E 213 . ENSP00000271015:G213E G - 2 0 BCL10 85505962 0.622000 0.27085 0.615000 0.29064 0.961000 0.63080 0.254000 0.18314 -0.113000 0.11958 0.467000 0.42956 GGA NOVEL BCL10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000027612.1 2 13.543926 KEEP 0 0 0 45 1577 CC 1 1 0 - 13 60 462 0 0 32.524094 156 60 5781 269 ENST00000370580.1 0.076923 1 BCL10 8915 __UNKNOWN__ __UNKNOWN__ 1 85741921 85741921 __UNKNOWN__ Intron SNP G G C rs2735594 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:85741921G>C ENST00000370580.1 - 1 795 NM_003921.4 NP_003912.1 O95999 BCL10_HUMAN B-cell CLL/lymphoma 10 NA NA adaptive immune response (GO:0002250)|B cell apoptotic process (GO:0001783)|cell death (GO:0008219)|cellular defense response (GO:0006968)|cellular response to mechanical stimulus (GO:0071260)|Fc-epsilon receptor signaling pathway (GO:0038095)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interleukin-6 biosynthetic process (GO:0042226)|lymphotoxin A biosynthetic process (GO:0042109)|negative regulation of mature B cell apoptotic process (GO:0002906)|neural tube closure (GO:0001843)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of mast cell cytokine production (GO:0032765)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|regulation of T cell receptor signaling pathway (GO:0050856)|response to food (GO:0032094)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell apoptotic process (GO:0070231)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor signaling pathway (GO:0002224) CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|lysosome (GO:0005764)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234) enzyme binding (GO:0019899)|kinase binding (GO:0019900)|NF-kappaB binding (GO:0051059)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625) haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 19 all cancers(265;0.0114)|Epithelial(280;0.0311) TTCCGCTTTCGTCTCCCGCTG 0.657 NA T IGH@ MALT C||| 3859 0.770567 0.8442 0.6873 5008 , , NA 16140 0.7173 NA 0.7913 False NA ,,, NA NA NA 2504 0.7638 NA NA NA NSCLC(34;993 1034 12176 32621 50182) Dom yes 1 1p22 8915 B-cell CLL/lymphoma 10 L 0 C 1166,218 489,188,15 22 24 24 4.6 0.6 1 dbSNP_100 24 2488,694 970,548,73 no intron BCL10 NM_003921.4 1459,736,88 CC,CG,GG 21.8102,15.7514,19.9737 85741921 3654,912 692 1591 2283 SO:0001627 intron_variant AJ006288 CCDS704.1 1p22 2008-07-18 ENSG00000142867 ENSG00000142867 8915 989 protein-coding gene gene with protein product CARD-like apoptotic protein, CARD-containing apoptotic signaling protein, CARD containing molecule enhancing NF-kB, caspase-recruiting domain-containing protein, CARD-containing proapoptotic protein 603517 NA 9989495 Standard NM_003921 NM_003921 NA Approved CARMEN, CIPER, mE10, c-E10, CLAP uc021opd.1 O95999 OTTHUMG00000009965 ENST00000370580.1:c.57+57C>G chr1.hg19:g.85741921G>C NA Q5VUF1 hg19 CCDS704.1 0.02 2.153979 TTCxTCT COVERED NOVEL BCL10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000027612.1 1 34.274408 KEEP 0 2 69 138 4638 GG 1 0.999919 0 - 5 60 188 0 0 12.681144 90 60 3047 325 ENST00000370580.1 0.052632 0.999919 BCL10 8915 __UNKNOWN__ __UNKNOWN__ 1 85742338 85742338 __UNKNOWN__ 5'UTR SNP G G C rs2735593 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:85742338G>C ENST00000370580.1 - 0 435 NM_003921.4 NP_003912.1 O95999 BCL10_HUMAN B-cell CLL/lymphoma 10 NA NA adaptive immune response (GO:0002250)|B cell apoptotic process (GO:0001783)|cell death (GO:0008219)|cellular defense response (GO:0006968)|cellular response to mechanical stimulus (GO:0071260)|Fc-epsilon receptor signaling pathway (GO:0038095)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interleukin-6 biosynthetic process (GO:0042226)|lymphotoxin A biosynthetic process (GO:0042109)|negative regulation of mature B cell apoptotic process (GO:0002906)|neural tube closure (GO:0001843)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of mast cell cytokine production (GO:0032765)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|regulation of T cell receptor signaling pathway (GO:0050856)|response to food (GO:0032094)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell apoptotic process (GO:0070231)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor signaling pathway (GO:0002224) CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|lysosome (GO:0005764)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234) enzyme binding (GO:0019899)|kinase binding (GO:0019900)|NF-kappaB binding (GO:0051059)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625) haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 19 all cancers(265;0.0114)|Epithelial(280;0.0311) GAGGCGCGTCGCTTAGCAGAG 0.726 NA T IGH@ MALT C||| 3858 0.770367 0.8442 0.6873 5008 , , NA 13865 0.7173 NA 0.7903 False NA ,,, NA NA NA 2504 0.7638 NA NA NA NSCLC(34;993 1034 12176 32621 50182) Dom yes 1 1p22 8915 B-cell CLL/lymphoma 10 L 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AJ006288 CCDS704.1 1p22 2008-07-18 ENSG00000142867 ENSG00000142867 8915 989 protein-coding gene gene with protein product CARD-like apoptotic protein, CARD-containing apoptotic signaling protein, CARD containing molecule enhancing NF-kB, caspase-recruiting domain-containing protein, CARD-containing proapoptotic protein 603517 NA 9989495 Standard NM_003921 NM_003921 NA Approved CARMEN, CIPER, mE10, c-E10, CLAP uc021opd.1 O95999 OTTHUMG00000009965 ENST00000370580.1:c.-303C>G chr1.hg19:g.85742338G>C NA Q5VUF1 hg19 CCDS704.1 0.02 8.930711 GTCxCTT COVERED NOVEL BCL10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000027612.1 4 14.428667 KEEP 0 6 206 120 3958 GG 1 1 0 - 16 60 556 0 0 38.799426 191 60 6293 435 ENST00000370580.1 0.077295 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 86049679 86049679 __UNKNOWN__ IGR SNP G G T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:86049679G>T NA NA CYR61 (34 upstream) : SNORD81 (8283 downstream) NA NA NA AGAATATAAAGCCTAAGGGTC 0.348 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.86049679G>T NA hg19 0.02 1.661884 AAAxCCT COVERED NOVEL 0 0 3.41199 KEEP 0 2 14 17 456 GG 0.99986 0.997758 0 14 60 238 0 0 15.264014 59 60 1319 109 0.191781 0.997898 COL24A1 255631 __UNKNOWN__ __UNKNOWN__ 1 86621998 86621998 __UNKNOWN__ Intron SNP C C T rs41287729 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:86621998C>T ENST00000370571.2 - 1 423 COL24A1_ENST00000485434.1_Intron|COL24A1_ENST00000436319.1_Intron NM_152890.5 NP_690850.2 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 NA NA extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244) collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578) extracellular matrix structural constituent (GO:0005201) NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 101 all cancers(265;0.0627)|Epithelial(280;0.0689) CTAACCCCTACCCTACCCGGC 0.557 NA C||| 357 0.0712859 0.0083 0.1124 5008 , , NA 15381 0.1597 NA 0.0606 False NA ,,, NA NA NA 2504 0.047 NA NA NA NA 0 C 73,3693 2,69,1812 102 105 104 2.3 0 1 dbSNP_127 104 630,7562 24,582,3490 no intron COL24A1 NM_152890.5 26,651,5302 TT,TC,CC 7.6904,1.9384,5.8789 86621998 703,11255 1883 4096 5979 SO:0001627 intron_variant AF410793 CCDS41353.1 1p22.3-p22.2 2013-01-16 ENSG00000171502 ENSG00000171502 255631 Collagens 20821 protein-coding gene gene with protein product 610025 NA Standard NM_152890 NM_152890 NA Approved uc001dlj.3 Q17RW2 OTTHUMG00000010629 ENST00000370571.2:c.56+25G>A chr1.hg19:g.86621998C>T NA C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5 hg19 CCDS41353.1 0.02 6.699339 CTAxCCT COVERED NOVEL COL24A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000029335.4 0 3.309908 KEEP 0 0 0 11 347 CC 0.993072 0.993072 0 - 7 60 256 0 0 16.332331 160 60 5705 185 ENST00000370571.2 0.041916 1 CLCA1 1179 __UNKNOWN__ __UNKNOWN__ 1 86947975 86947975 __UNKNOWN__ Silent SNP A A T rs1321694 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:86947975A>T ENST00000234701.3 + 6 996 c.645A>T c.(643-645)gtA>gtT p.V215V CLCA1_ENST00000394711.1_Silent_p.V215V A8K7I4 CLCA1_HUMAN chloride channel accessory 1 215 NA calcium ion transport (GO:0006816)|cellular response to hypoxia (GO:0071456)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810) extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|zymogen granule membrane (GO:0042589) chloride channel activity (GO:0005254) NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 Lung NSC(277;0.239) all cancers(265;0.0249)|Epithelial(280;0.0476) TCAATAAAGTAACAGGACTCT 0.398 NA A||| 1841 0.367612 0.2443 0.2939 5008 , , NA 20995 0.505 NA 0.3728 False NA ,,, NA NA NA 2504 0.4397 NA NA NA NA 0 A 1116,3290 398.8+/-331.0 140,836,1227 136 123 128 645 -2.2 0.1 1 dbSNP_88 128 3044,5556 467.7+/-367.1 534,1976,1790 no coding-synonymous CLCA1 NM_001285.3 674,2812,3017 TT,TA,AA 35.3953,25.3291,31.9852 215/915 86947975 4160,8846 2203 4300 6503 SO:0001819 synonymous_variant CCDS709.1 1p22.3 2012-02-26 2009-01-29 ENSG00000016490 ENSG00000016490 1179 2015 protein-coding gene gene with protein product 603906 chloride channel, calcium activated, family member 1, chloride channel regulator 1 NA 9828122 Standard NM_001285 NM_001285 NA Approved CaCC, CLCRG1 uc001dlt.3 A8K7I4 OTTHUMG00000010254 ENST00000234701.3:c.645A>T chr1.hg19:g.86947975A>T NA B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6 hg19 CCDS709.1 0.02 15.341784 AGTxACA COVERED NOVEL CLCA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000028277.1 1 14.439628 KEEP 0 0 0 48 1456 AA 1 1 0 + 26 60 935 0 0 64.259737 370 60 13008 526 ENST00000234701.3 0.065657 1 CLCA1 1179 __UNKNOWN__ __UNKNOWN__ 1 86948169 86948169 __UNKNOWN__ Intron SNP T T C rs2791514 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:86948169T>C ENST00000234701.3 + 6 1086 CLCA1_ENST00000394711.1_Intron A8K7I4 CLCA1_HUMAN chloride channel accessory 1 NA NA calcium ion transport (GO:0006816)|cellular response to hypoxia (GO:0071456)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810) extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|zymogen granule membrane (GO:0042589) chloride channel activity (GO:0005254) NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 Lung NSC(277;0.239) all cancers(265;0.0249)|Epithelial(280;0.0476) AAATCATCAGTGAGCAGTGGA 0.473 NA T||| 605 0.120807 0.1029 0.1167 5008 , , NA 19156 0.0804 NA 0.1551 False NA ,,, NA NA NA 2504 0.1544 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS709.1 1p22.3 2012-02-26 2009-01-29 ENSG00000016490 ENSG00000016490 1179 2015 protein-coding gene gene with protein product 603906 chloride channel, calcium activated, family member 1, chloride channel regulator 1 NA 9828122 Standard NM_001285 NM_001285 NA Approved CaCC, CLCRG1 uc001dlt.3 A8K7I4 OTTHUMG00000010254 ENST00000234701.3:c.735+104T>C chr1.hg19:g.86948169T>C NA B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6 hg19 CCDS709.1 0.02 5.083614 CAGxGAG COVERED NOVEL CLCA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000028277.1 3 6.319748 KEEP 0 0 0 21 680 TT 0.999869 0.999869 0 + 7 60 234 0 0 13.700095 185 60 6818 227 ENST00000234701.3 0.036458 1 CLCA1 1179 __UNKNOWN__ __UNKNOWN__ 1 86965419 86965419 __UNKNOWN__ Silent SNP T T C rs1882753 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:86965419T>C ENST00000234701.3 + 15 2787 c.2436T>C c.(2434-2436)acT>acC p.T812T CLCA1_ENST00000394711.1_Silent_p.T812T A8K7I4 CLCA1_HUMAN chloride channel accessory 1 812 NA calcium ion transport (GO:0006816)|cellular response to hypoxia (GO:0071456)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810) extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|zymogen granule membrane (GO:0042589) chloride channel activity (GO:0005254) NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 Lung NSC(277;0.239) all cancers(265;0.0249)|Epithelial(280;0.0476) TGAATACTACTGCTCTCATCC 0.343 NA T||| 1766 0.352636 0.2837 0.2291 5008 , , NA 18120 0.5446 NA 0.2604 False NA ,,, NA NA NA 2504 0.4305 NA NA NA NA 0 T 1173,3231 395.6+/-329.7 162,849,1191 89 92 91 2436 -4.7 0 1 dbSNP_92 91 2238,6362 375.2+/-337.7 316,1606,2378 no coding-synonymous CLCA1 NM_001285.3 478,2455,3569 CC,CT,TT 26.0233,26.6349,26.2304 812/915 86965419 3411,9593 2202 4300 6502 SO:0001819 synonymous_variant CCDS709.1 1p22.3 2012-02-26 2009-01-29 ENSG00000016490 ENSG00000016490 1179 2015 protein-coding gene gene with protein product 603906 chloride channel, calcium activated, family member 1, chloride channel regulator 1 NA 9828122 Standard NM_001285 NM_001285 NA Approved CaCC, CLCRG1 uc001dlt.3 A8K7I4 OTTHUMG00000010254 ENST00000234701.3:c.2436T>C chr1.hg19:g.86965419T>C NA B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6 hg19 CCDS709.1 0.02 5.542731 TACxGCT COVERED NOVEL CLCA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000028277.1 2 11.733984 KEEP 0 0 0 39 1201 TT 1 1 0 + 13 60 457 0 0 31.474301 172 60 6437 258 ENST00000234701.3 0.07027 1 HS2ST1 9653 __UNKNOWN__ __UNKNOWN__ 1 87570413 87570413 __UNKNOWN__ 3'UTR SNP A A T rs3766018 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:87570413A>T ENST00000370550.5 + 0 1468 RP5-1052I5.2_ENST00000370548.2_Intron|HS2ST1_ENST00000356813.4_Intron NM_012262.3 NP_036394.1 Q7LGA3 HS2ST_HUMAN heparan sulfate 2-O-sulfotransferase 1 NA NA carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281) Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020) sulfotransferase activity (GO:0008146) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5) 9 Lung NSC(277;0.153) all cancers(265;0.00699)|Epithelial(280;0.0261) CTTGAACTAAAATTTGACCCT 0.388 NA A||| 238 0.047524 0.0008 0.0 5008 , , NA 19527 0.2252 NA 0.001 False NA ,,, NA NA NA 2504 0.0092 NA NA NA NA 0 A 13,4375 0,13,2181 16 17 17 3.5 0.1 1 dbSNP_107 17 4,8574 0,4,4285 no utr-3 HS2ST1 NM_012262.3 0,17,6466 TT,TA,AA 0.0466,0.2963,0.1311 87570413 17,12949 2194 4289 6483 SO:0001624 3_prime_UTR_variant AB007917 CCDS711.1, CCDS44171.1 1p22.3 2008-02-05 ENSG00000153936 ENSG00000153936 9653 Sulfotransferases, membrane-bound 5193 protein-coding gene gene with protein product 604844 NA 9455484 Standard NM_012262 NM_012262 NA Approved KIAA0448 uc010osk.2 Q7LGA3 OTTHUMG00000010255 ENST00000370550.5:c.*34A>T chr1.hg19:g.87570413A>T NA D3DT22|O75036|Q32NB5|Q8TAC5|Q9H441|Q9NUJ9 hg19 CCDS711.1 0.02 10.756688 TAAxATT COVERED NOVEL HS2ST1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000028279.2 2 11.129657 KEEP 0 0 0 37 1095 AA 1 1 0 + 10 60 372 0 0 23.195838 273 60 9752 346 ENST00000370550.5 0.035336 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 87923710 87923710 __UNKNOWN__ IGR SNP G G A rs193238147 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:87923710G>A NA NA RNA5SP52 (4654 upstream) : RP5-1027O11.1 (441881 downstream) NA NA NA tgatccgcccgcctcggcctc 0.537 NA G||| 49 0.00978435 0.0015 0.0101 5008 , , NA 14555 0.001 NA 0.0298 False NA ,,, NA NA NA 2504 0.0092 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.87923710G>A NA hg19 0.02 -0.026319 CCCxCCT UNCOVERED NOVEL 0 2 2.707423 KEEP 9 0 0 9 306 GG 0 0 0 2 60 76 0 0 7.724966 1 60 33 26 0.666667 0 PKN2 5586 __UNKNOWN__ __UNKNOWN__ 1 89270101 89270101 __UNKNOWN__ Missense_Mutation SNP T T C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:89270101T>C ENST00000370521.3 + 9 1668 c.1309T>C c.(1309-1311)Tgg>Cgg p.W437R PKN2_ENST00000544045.1_Missense_Mutation_p.W111R|PKN2_ENST00000316005.7_Missense_Mutation_p.W437R|PKN2_ENST00000370505.3_Missense_Mutation_p.W280R|PKN2_ENST00000370513.5_Intron NM_006256.2 NP_006247.1 Q16513 PKN2_HUMAN protein kinase N2 437 C2.|Necessary to rescue apical junction formation. {ECO:0000250}. NA apical junction assembly (GO:0043297)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|epithelial cell migration (GO:0010631)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351) apical junction complex (GO:0043296)|centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium (GO:0030027)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634) ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674) breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1) 33 Lung NSC(277;0.123) all cancers(265;0.0136)|Epithelial(280;0.0301) TTCAGTTTATTGGCGTGATTG 0.363 NA NA NA NA NA NA NA NA NA NA NA 0 77 71 73 NA NA 1 NA 89270101 1838 4082 5920 SO:0001583 missense U33052 CCDS714.1 1p22 2014-04-23 2004-07-01 2004-07-01 ENSG00000065243 ENSG00000065243 5586 9406 protein-coding gene gene with protein product cardiolipin-activated protein kinase Pak2 602549 protein kinase C-like 2 PRKCL2 NA 7988719, 7851406 Standard NM_006256 NM_006256 NA Approved PRK2, Pak-2, STK7 uc001dmn.3 Q16513 OTTHUMG00000010074 ENST00000370521.3:c.1309T>C chr1.hg19:g.89270101T>C ENSP00000359552:p.Trp437Arg NA B4DQ21|B4DTP5|B4DVG1|D3DT24|Q08AF4|Q9H1W4 hg19 CCDS714.1 0.02 17.653781 TATxGGC COVERED .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. T|T 18.89|18.89 3.719702|3.719702 0.68844|0.68844 .|. .|. ENSG00000065243|ENSG00000065243 ENST00000436111|ENST00000370521;ENST00000316005;ENST00000370505;ENST00000544045 .|T;T;T;T .|0.08984 .|3.03;3.03;3.03;3.03 4.86|4.86 4.86|4.86 0.63082|0.63082 .|C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1); .|0.000000 .|0.42682 .|U .|0.000667 T|T 0.21718|0.21718 0.0523|0.0523 M|M 0.80746|0.80746 2.51|2.51 0.80722|0.80722 D|D 1|1 .|P;D;D .|0.76494 .|0.892;0.999;0.998 .|B;D;P .|0.85130 .|0.38;0.997;0.896 T|T 0.01666|0.01666 -1.1300|-1.1300 5|10 .|0.54805 .|T .|0.06 .|. 14.7411|14.7411 0.69455|0.69455 0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0 .|. .|421;437;437 .|B4DTP5;Q16513;B1AL79 .|.;PKN2_HUMAN;. S|R 156|437;437;280;111 .|ENSP00000359552:W437R;ENSP00000317851:W437R;ENSP00000359536:W280R;ENSP00000439643:W111R .|ENSP00000317851:W437R L|W +|+ 2|1 0|0 PKN2|PKN2 89042689|89042689 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.998000|0.998000 0.95712|0.95712 7.578000|7.578000 0.82498|0.82498 1.939000|1.939000 0.56221|0.56221 0.477000|0.477000 0.44152|0.44152 TTG|TGG NOVEL PKN2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000027828.3 1 29.483169 KEEP 0 0 0 98 2964 TT 1 1 0 + 17 60 632 0 0 40.504548 398 60 14458 630 ENST00000370521.3 0.040964 1 RBMXL1 494115 __UNKNOWN__ __UNKNOWN__ 1 89449434 89449434 __UNKNOWN__ Missense_Mutation SNP T T C rs2893084 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:89449434T>C ENST00000321792.5 - 2 503 c.76A>G c.(76-78)Aca>Gca p.T26A CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000446900.2_Intron|RBMXL1_ENST00000399794.2_Missense_Mutation_p.T26A|RBMXL1_ENST00000413769.1_5'UTR NM_019610.5 NP_062556.2 Q96E39 RMXL1_HUMAN RNA binding motif protein, X-linked-like 1 26 RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}. NA mRNA processing (GO:0006397)|RNA splicing (GO:0008380) nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529) nucleotide binding (GO:0000166)|RNA binding (GO:0003723) NA CCAAATACTGTTTCAAGAGCT 0.413 NA OREG0013593 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) NA NA NA NA NA NA NA NA NA NA 0 184 183 183 NA NA 1 NA 89449434 2203 4300 6503 SO:0001583 missense BC012942 CCDS716.1 1p22.2 2013-02-12 2007-01-04 2007-01-04 ENSG00000213516 ENSG00000213516 494115 RNA binding motif (RRM) containing 25073 protein-coding gene gene with protein product kynurenine aminotransferase III NA 10441733 Standard NM_019610 NM_019610 NA Approved KAT3 uc001dms.3 Q96E39 OTTHUMG00000010661 ENST00000321792.5:c.76A>G chr1.hg19:g.89449434T>C ENSP00000318415:p.Thr26Ala 1267 hg19 CCDS716.1 0.02 4.965888 CTGxTTC COVERED . . . . . . . . . . T 3.554 -0.091124 0.07053 . . ENSG00000213516 ENST00000321792;ENST00000399794 D;D 0.85171 -1.95;-1.95 1.28 -2.56 0.06268 Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3); 0.275039 0.28382 N 0.015553 T 0.30885 0.0779 N 0.03224 -0.385 0.20873 N 0.999835 B 0.02656 0.0 B 0.06405 0.002 T 0.49818 -0.8899 10 0.02654 T 1 7.3308 6.0529 0.19794 0.0:0.6607:0.0:0.3393 rs2893084 26 Q96E39 RBMXL_HUMAN A 26 ENSP00000318415:T26A;ENSP00000446099:T26A ENSP00000318415:T26A T - 1 0 RBMXL1 89222022 1.000000 0.71417 0.482000 0.27366 0.917000 0.54804 1.281000 0.33214 -0.855000 0.04125 -0.760000 0.03462 ACA NOVEL RBMXL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000029403.3 3 2.205184 KEEP 0 3 99 42 1215 TT 1 0.999997 0 - 5 40 194 0 0 12.894891 108 60 3793 181 ENST00000321792.5 0.044248 0.999997 GBP3 2635 __UNKNOWN__ __UNKNOWN__ 1 89485964 89485964 __UNKNOWN__ Intron SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:89485964G>A ENST00000370481.4 - 2 411 Y_RNA_ENST00000365515.1_RNA|GBP3_ENST00000475853.2_Intron NM_018284.2 NP_060754.2 Q8WXF7 ATLA1_HUMAN guanylate binding protein 3 NA NA axonogenesis (GO:0007409)|cell death (GO:0008219)|endoplasmic reticulum organization (GO:0007029)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260) cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi cis cisterna (GO:0000137)|integral component of membrane (GO:0016021) GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802) breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 26 Lung NSC(277;0.123) all cancers(265;0.0103)|Epithelial(280;0.0293) agtgagaagggtgaggagaaa 0.448 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC063819 CCDS717.2 1p22.2 2008-02-05 ENSG00000117226 ENSG00000117226 2635 4184 protein-coding gene gene with protein product 600413 NA 7518790 Standard NM_018284 NM_018284 NA Approved FLJ10961 uc001dmt.3 Q9H0R5 OTTHUMG00000010616 ENST00000370481.4:c.190+250C>T chr1.hg19:g.89485964G>A NA A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0 hg19 CCDS717.2 0.02 2.068289 AGGxTGA COVERED NOVEL GBP3-008 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000313541.3 1 11.136577 KEEP 0 0 0 37 1331 GG 1 0.999407 0 - 5 60 185 0 0 12.709994 77 60 2820 148 ENST00000370481.4 0.060976 0.999407 GBP5 115362 __UNKNOWN__ __UNKNOWN__ 1 89732237 89732237 __UNKNOWN__ Silent SNP G G A rs61729628 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:89732237G>A ENST00000370459.3 - 6 787 c.660C>T c.(658-660)ccC>ccT p.P220P GBP5_ENST00000343435.5_Silent_p.P220P|RP4-620F22.2_ENST00000437128.1_RNA Q96PP8 GBP5_HUMAN guanylate binding protein 5 220 GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}. NA cytoplasm (GO:0005737)|membrane (GO:0016020) GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802) breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1) 24 all cancers(265;0.00784)|Epithelial(280;0.0286) TACACAGACGGGGCAAATTGA 0.343 NA G||| 719 0.14357 0.0371 0.1441 5008 , , NA 16167 0.245 NA 0.1581 False NA ,,, NA NA NA 2504 0.1677 NA NA NA NA 0 G , 244,4162 143.1+/-178.2 7,230,1966 97 101 99 660,660 -1.9 0.5 1 dbSNP_129 99 1507,7093 284.6+/-296.7 114,1279,2907 no coding-synonymous,coding-synonymous GBP5 NM_001134486.2,NM_052942.3 , 121,1509,4873 AA,AG,GG 17.5233,5.5379,13.463 , 220/587,220/587 89732237 1751,11255 2203 4300 6503 SO:0001819 synonymous_variant AF430642 CCDS722.1 1p22.2 2008-02-05 ENSG00000154451 ENSG00000154451 115362 19895 protein-coding gene gene with protein product 611467 NA Standard NM_052942 NM_052942 NA Approved uc001dnd.3 Q96PP8 OTTHUMG00000010006 ENST00000370459.3:c.660C>T chr1.hg19:g.89732237G>A NA B2RCE1|Q86TM5 hg19 CCDS722.1 0.02 8.094077 ACGxGGC COVERED NOVEL GBP5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000027700.1 2 18.058369 KEEP 0 0 0 60 2082 GG 1 1 0 - 7 60 261 0 0 15.641447 238 60 8657 352 ENST00000370459.3 0.028571 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 89755301 89755301 __UNKNOWN__ IGR SNP A A C rs149141700 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:89755301A>C NA NA GBP5 (16757 upstream) : GBP6 (74315 downstream) NA NA NA TTTTTATTCTAATGTTACTTG 0.318 NA A||| 11 0.00219649 0.0 0.0 5008 , , NA 15245 0.0109 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.89755301A>C NA hg19 0.02 4.076134 TCTxATG COVERED NOVEL 0 0 12.337153 KEEP 0 0 0 41 1290 AA 1 0.999996 0 5 60 179 0 0 11.377038 109 60 3855 161 0.04386 0.999996 HFM1 164045 __UNKNOWN__ __UNKNOWN__ 1 91794091 91794091 __UNKNOWN__ Intron SNP G G C rs7541566 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:91794091G>C ENST00000370425.3 - 21 2434 HFM1_ENST00000462405.1_Intron|HFM1_ENST00000370424.3_Intron|HFM1_ENST00000294696.5_Intron NM_001017975.3 NP_001017975.3 A2PYH4 HFM1_HUMAN HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) NA NA resolution of meiotic recombination intermediates (GO:0000712) ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676) breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 75 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) GGGTGGGGATGTGCTGCAGAA 0.532 NA G||| 1694 0.338259 0.2209 0.389 5008 , , NA 22897 0.5347 NA 0.2227 False NA ,,, NA NA NA 2504 0.3773 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB204867 CCDS30769.2 1p22.2 2008-03-26 ENSG00000162669 ENSG00000162669 164045 20193 protein-coding gene gene with protein product 615684 SEC63 domain containing 1 SEC63D1 NA 14702039, 17286053 Standard NM_001017975 XM_006710395 NA Approved MER3, FLJ39011, FLJ36760 uc001doa.4 A2PYH4 OTTHUMG00000010093 ENST00000370425.3:c.2336-3768C>G chr1.hg19:g.91794091G>C NA B1B0B6|Q8N9Q0 hg19 CCDS30769.2 0.02 4.659478 GATxTGC COVERED NOVEL HFM1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000316716.2 0 2.407817 KEEP 0 0 0 8 282 GG 0.99257 0.99257 0 - 11 60 425 0 0 30.674839 139 60 5150 174 ENST00000370425.3 0.073333 1 HFM1 164045 __UNKNOWN__ __UNKNOWN__ 1 91794248 91794248 __UNKNOWN__ Intron SNP G G A rs281973 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:91794248G>A ENST00000370425.3 - 21 2434 HFM1_ENST00000462405.1_Intron|HFM1_ENST00000370424.3_Intron|HFM1_ENST00000294696.5_Intron NM_001017975.3 NP_001017975.3 A2PYH4 HFM1_HUMAN HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) NA NA resolution of meiotic recombination intermediates (GO:0000712) ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676) breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 75 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) AGTGAACTGCGGGGCTGAGGC 0.567 NA G||| 2203 0.439896 0.5023 0.4755 5008 , , NA 21439 0.5387 NA 0.2813 False NA ,,, NA NA NA 2504 0.3916 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB204867 CCDS30769.2 1p22.2 2008-03-26 ENSG00000162669 ENSG00000162669 164045 20193 protein-coding gene gene with protein product 615684 SEC63 domain containing 1 SEC63D1 NA 14702039, 17286053 Standard NM_001017975 XM_006710395 NA Approved MER3, FLJ39011, FLJ36760 uc001doa.4 A2PYH4 OTTHUMG00000010093 ENST00000370425.3:c.2336-3925C>T chr1.hg19:g.91794248G>A NA B1B0B6|Q8N9Q0 hg19 CCDS30769.2 0.02 4.549313 TGCxGGG COVERED NOVEL HFM1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000316716.2 2 4.81463 KEEP 0 0 0 16 528 GG 0.997832 0.997829 0 - 8 60 304 0 0 21.578808 108 60 3801 143 ENST00000370425.3 0.068966 0.999998 HFM1 164045 __UNKNOWN__ __UNKNOWN__ 1 91870410 91870410 __UNKNOWN__ 5'UTR SNP G G C rs17131429 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:91870410G>C ENST00000370425.3 - 0 16 HFM1_ENST00000294696.5_5'UTR NM_001017975.3 NP_001017975.3 A2PYH4 HFM1_HUMAN HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) NA NA resolution of meiotic recombination intermediates (GO:0000712) ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676) breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 75 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) CCCCTCTGAGGACCGCCAAGC 0.617 NA G||| 1212 0.242013 0.062 0.1931 5008 , , NA 13355 0.2857 NA 0.3022 False NA ,,, NA NA NA 2504 0.4131 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AB204867 CCDS30769.2 1p22.2 2008-03-26 ENSG00000162669 ENSG00000162669 164045 20193 protein-coding gene gene with protein product 615684 SEC63 domain containing 1 SEC63D1 NA 14702039, 17286053 Standard NM_001017975 XM_006710395 NA Approved MER3, FLJ39011, FLJ36760 uc001doa.4 A2PYH4 OTTHUMG00000010093 ENST00000370425.3:c.-83C>G chr1.hg19:g.91870410G>C NA B1B0B6|Q8N9Q0 hg19 CCDS30769.2 0.02 17.012438 GAGxACC COVERED 499 0.22847985347985347 42 0.08536585365853659 70 0.19337016574585636 165 0.28846153846153844 222 0.2928759894459103 g 9.076 0.998183 0.19043 . . ENSG00000162669 ENST00000541820 . . . 2.09 2.09 0.27110 . . . . . T 0.40979 0.1139 . . . 0.37274 P 0.09248699999999999 . . . . . . T 0.41858 -0.9485 4 0.87932 D 0 . 7.705 0.28644 0.0:0.0:1.0:0.0 rs17131429 . . . C 6 . ENSP00000440351:S6C S - 2 0 HFM1 91642998 0.001000 0.12720 0.008000 0.14137 0.138000 0.21146 0.786000 0.26844 1.473000 0.48159 0.457000 0.33378 TCC NOVEL HFM1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000316716.2 2 52.595349 KEEP 0 0 0 175 6013 GG 1 1 0 - 12 60 431 0 0 25.048714 420 60 15035 774 ENST00000370425.3 0.027778 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 92001134 92001134 __UNKNOWN__ IGR SNP T T C rs12759724 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:92001134T>C NA NA CDC7 (9813 upstream) : TGFBR3 (144767 downstream) NA NA NA TACAGAAGCTTCGAAGCAGCA 0.592 NA C||| 1704 0.340256 0.2995 0.2839 5008 , , NA 16594 0.499 NA 0.2664 False NA ,,, NA NA NA 2504 0.3476 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.92001134T>C NA hg19 0.02 2.215411 GCTxCGA COVERED NOVEL 0 0 7.18708 KEEP 0 0 0 24 723 TT 0.999909 0.999713 0 6 60 219 0 0 15.252956 82 60 2892 124 0.068182 0.999804 TGFBR3 7049 __UNKNOWN__ __UNKNOWN__ 1 92149139 92149139 __UNKNOWN__ 3'UTR SNP C C T rs1805115 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:92149139C>T ENST00000525962.1 - 0 2774 TGFBR3_ENST00000212355.4_3'UTR|TGFBR3_ENST00000370399.2_3'UTR Q03167 TGBR3_HUMAN transforming growth factor, beta receptor III NA NA blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010) cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578) coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114) endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3) 55 all_lung(203;0.00719)|Lung NSC(277;0.0268) all cancers(265;0.0108)|Epithelial(280;0.0825) GTGAATACAACGGGTGATCTT 0.483 NA T||| 420 0.0838658 0.0083 0.0821 5008 , , NA 16779 0.0992 NA 0.159 False NA ,,, NA NA NA 2504 0.0941 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L07594 CCDS30770.1, CCDS55614.1 1p33-p32 2008-02-05 2007-02-15 ENSG00000069702 ENSG00000069702 7049 Proteoglycans / Cell surface : Other 11774 protein-coding gene gene with protein product betaglycan proteoglycan 600742 transforming growth factor, beta receptor III (betaglycan, 300kDa) NA 1333192, 1319842 Standard NM_003243 NM_001195684 NA Approved betaglycan, BGCAN uc001doh.3 Q03167 OTTHUMG00000010097 ENST00000525962.1:c.*157G>A chr1.hg19:g.92149139C>T NA A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2 hg19 CCDS30770.1 0.02 4.018006 CAAxGGG COVERED NOVEL TGFBR3-006 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000382308.1 2 16.485005 KEEP 0 1 32 66 2229 CC 1 1 0 - 5 60 184 0 0 11.551772 127 60 4418 254 ENST00000525962.1 0.037879 1 BRDT 676 __UNKNOWN__ __UNKNOWN__ 1 92442695 92442695 __UNKNOWN__ Missense_Mutation SNP A A C rs1156281 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:92442695A>C ENST00000362005.3 + 7 1132 c.714A>C c.(712-714)aaA>aaC p.K238N BRDT_ENST00000484781.1_3'UTR|BRDT_ENST00000370389.2_Missense_Mutation_p.K165N|BRDT_ENST00000399546.2_Missense_Mutation_p.K238N|BRDT_ENST00000394530.3_Missense_Mutation_p.K192N|BRDT_ENST00000402388.1_Missense_Mutation_p.K238N NM_001242805.1 NP_001229734 Q58F21 BRDT_HUMAN bromodomain, testis-specific 238 NA K -> N (in dbSNP:rs1156281). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17344846}. cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2) 56 all_lung(203;0.00531)|Lung NSC(277;0.0194) all cancers(265;0.0228)|Epithelial(280;0.133) TCACAGAAAAATCAGTGGCAC 0.368 NA A||| 947 0.189097 0.1513 0.134 5008 , , NA 19037 0.3859 NA 0.0755 False NA ,,, NA NA NA 2504 0.1933 NA NA NA NA 0 A ASN/LYS,ASN/LYS,ASN/LYS,ASN/LYS,ASN/LYS,ASN/LYS,ASN/LYS 562,3844 244.3+/-253.7 39,484,1680 58 56 57 714,726,576,576,495,714,714 3.2 0.2 1 dbSNP_87 57 497,8103 142.2+/-198.4 18,461,3821 yes missense,missense,missense,missense,missense,missense,missense BRDT NM_001242805.1,NM_001242806.1,NM_001242807.1,NM_001242808.1,NM_001242810.1,NM_001726.3,NM_207189.2 94,94,94,94,94,94,94 57,945,5501 CC,CA,AA 5.7791,12.7553,8.1424 benign,benign,benign,benign,benign,benign,benign 238/948,242/952,192/902,192/902,165/875,238/948,238/948 92442695 1059,11947 2203 4300 6503 SO:0001583 missense AF019085 CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1 1p22.1 2010-12-23 ENSG00000137948 ENSG00000137948 676 1105 protein-coding gene gene with protein product cancer/testis antigen 9 602144 NA 9367677 Standard NM_207189 NM_001726 NA Approved BRD6, CT9 uc010osz.2 Q58F21 OTTHUMG00000010113 ENST00000362005.3:c.714A>C chr1.hg19:g.92442695A>C ENSP00000354568:p.Lys238Asn NA A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6 hg19 CCDS735.1 0.02 6.733847 AAAxTCA COVERED 405 0.18543956043956045 63 0.12804878048780488 41 0.1132596685082873 241 0.42132867132867136 60 0.079155672823219 A 13.80 2.344740 0.41498 0.127553 0.057791 ENSG00000137948 ENST00000362005;ENST00000370389;ENST00000399546;ENST00000539070;ENST00000394530;ENST00000426141;ENST00000402388 T;T;T;T;T;T 0.11063 3.1;3.1;3.1;3.14;2.81;3.1 5.58 3.21 0.36854 . 1.092130 0.06940 N 0.812580 T 0.06962 0.0177 L 0.34521 1.04 0.42066 P 0.008811000000000013 D;D;P;D 0.53312 0.959;0.959;0.944;0.959 P;P;P;P 0.52343 0.503;0.503;0.696;0.503 T 0.25882 -1.0119 9 0.72032 D 0.01 -3.2232 7.8455 0.29422 0.7881:0.1391:0.0727:0.0 rs1156281;rs52816607;rs58411058;rs1156281 192;192;242;238 B7ZAX7;B7Z811;B7Z890;Q58F21 .;.;.;BRDT_HUMAN N 238;165;238;238;192;238;238 ENSP00000354568:K238N;ENSP00000359416:K165N;ENSP00000387822:K238N;ENSP00000378038:K192N;ENSP00000404969:K238N;ENSP00000384051:K238N ENSP00000354568:K238N K + 3 2 BRDT 92215283 0.991000 0.36638 0.150000 0.22450 0.181000 0.23173 2.784000 0.47774 0.467000 0.27218 0.533000 0.62120 AAA NOVEL BRDT-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000027980.2 1 6.620655 KEEP 0 0 0 22 719 AA 0.999879 0.999879 0 + 9 60 331 0 0 22.281042 154 60 5603 218 ENST00000362005.3 0.055215 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 92480009 92480009 __UNKNOWN__ IGR SNP C C T rs12035198 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:92480009C>T NA NA BRDT (26 upstream) : EPHX4 (15529 downstream) NA NA NA ATTTTTTAAACGACATAATTC 0.244 NA C||| 1041 0.207867 0.1967 0.1441 5008 , , NA 14824 0.3929 NA 0.0915 False NA ,,, NA NA NA 2504 0.1973 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.92480009C>T NA hg19 0.02 4.373363 AAAxGAC COVERED NOVEL 0 0 5.116329 KEEP 0 0 0 17 580 CC 0.999366 0.999366 0 7 60 267 0 0 18.040512 130 60 4445 186 0.051095 1 C1orf146 388649 __UNKNOWN__ __UNKNOWN__ 1 92710492 92710492 __UNKNOWN__ Intron SNP G G A rs72958744 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:92710492G>A ENST00000370375.3 + 5 556 C1orf146_ENST00000370373.2_Intron NM_001012425.1 NP_001012425.1 Q5VVC0 CA146_HUMAN chromosome 1 open reading frame 146 NA NA breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1) 8 all_lung(203;0.00528)|Lung NSC(277;0.0193) all cancers(265;0.00846)|Epithelial(280;0.0952) CCTTTTGAGCGAGACTGGCAA 0.413 NA G||| 253 0.0505192 0.0492 0.1052 5008 , , NA 21135 0.1101 NA 0.003 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS30772.1 1p22.1 2008-02-05 ENSG00000203910 ENSG00000203910 388649 24032 protein-coding gene gene with protein product NA 15496913 Standard NM_001012425 NM_001012425 NA Approved uc001doq.3 Q5VVC0 OTTHUMG00000010285 ENST00000370375.3:c.408+78G>A chr1.hg19:g.92710492G>A NA Q5VVC4 hg19 CCDS30772.1 0.02 14.875963 AGCxAGA COVERED NOVEL C1orf146-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000028364.1 2 12.339139 KEEP 0 0 0 41 1387 GG 1 1 0 + 10 60 369 0 0 21.861786 348 60 12823 492 ENST00000370375.3 0.027933 1 DNTTIP2 30836 __UNKNOWN__ __UNKNOWN__ 1 94334724 94334724 __UNKNOWN__ 3'UTR SNP A A C rs6664719 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:94334724A>C ENST00000436063.2 - 0 3011 NM_014597.4 NP_055412.2 Q5QJE6 TDIF2_HUMAN deoxynucleotidyltransferase, terminal, interacting protein 2 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleolus (GO:0005730)|nucleus (GO:0005634) poly(A) RNA binding (GO:0044822) NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 38 all_lung(203;0.0111)|Lung NSC(277;0.0347) all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128) ACCACTGGAGAAGAGGTAAGC 0.418 NA A||| 1739 0.347244 0.0893 0.3314 5008 , , NA 17468 0.5565 NA 0.325 False NA ,,, NA NA NA 2504 0.5143 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY394925 CCDS44174.1 1p22.1 2008-02-05 ENSG00000067334 ENSG00000067334 30836 24013 protein-coding gene gene with protein product acidic 82 kDa protein mRNA 611199 NA 15047147 Standard NM_014597 NM_014597 NA Approved HSU15552, ERBP, TdIF2 uc001dqf.3 Q5QJE6 OTTHUMG00000010268 ENST00000436063.2:c.*683T>G chr1.hg19:g.94334724A>C NA Q12987|Q53H59|Q5TFJ4|Q6TLI0|Q76MJ8|Q86WX9 hg19 CCDS44174.1 0.02 4.987238 GAGxAGA COVERED NOVEL DNTTIP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000028317.2 0 8.124375 KEEP 0 0 0 27 844 AA 0.999988 0.999987 0 - 7 60 265 0 0 18.1544 117 70 4109 166 ENST00000436063.2 0.056452 0.999999 DNTTIP2 30836 __UNKNOWN__ __UNKNOWN__ 1 94342564 94342564 __UNKNOWN__ Missense_Mutation SNP C C A rs3747965 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:94342564C>A ENST00000436063.2 - 2 984 c.927G>T c.(925-927)gaG>gaT p.E309D DNTTIP2_ENST00000460191.1_5'UTR NM_014597.4 NP_055412.2 Q5QJE6 TDIF2_HUMAN deoxynucleotidyltransferase, terminal, interacting protein 2 309 NA E -> D (in dbSNP:rs3747965). {ECO:0000269|PubMed:12786946, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.4, ECO:0000269|Ref.8}. regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleolus (GO:0005730)|nucleus (GO:0005634) poly(A) RNA binding (GO:0044822) NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 38 all_lung(203;0.0111)|Lung NSC(277;0.0347) all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128) TTTCTTTCCCCTCATCTGTTA 0.378 NA C||| 1727 0.344848 0.0817 0.33 5008 , , NA 19818 0.5565 NA 0.325 False NA ,,, NA NA NA 2504 0.5133 NA NA NA NA 0 C ASP/GLU 505,3149 34,437,1356 65 54 58 927 0.4 0 1 dbSNP_107 58 2741,5429 446,1849,1790 yes missense DNTTIP2 NM_014597.4 45 480,2286,3146 AA,AC,CC 33.5496,13.8205,27.4526 possibly-damaging 309/757 94342564 3246,8578 1827 4085 5912 SO:0001583 missense AY394925 CCDS44174.1 1p22.1 2008-02-05 ENSG00000067334 ENSG00000067334 30836 24013 protein-coding gene gene with protein product acidic 82 kDa protein mRNA 611199 NA 15047147 Standard NM_014597 NM_014597 NA Approved HSU15552, ERBP, TdIF2 uc001dqf.3 Q5QJE6 OTTHUMG00000010268 ENST00000436063.2:c.927G>T chr1.hg19:g.94342564C>A ENSP00000411010:p.Glu309Asp NA Q12987|Q53H59|Q5TFJ4|Q6TLI0|Q76MJ8|Q86WX9 hg19 CCDS44174.1 0.02 15.61087 CCCxTCA COVERED 741 0.3392857142857143 44 0.08943089430894309 124 0.3425414364640884 325 0.5681818181818182 248 0.32717678100263853 C 7.180 0.589308 0.13812 0.138205 0.335496 ENSG00000067334 ENST00000436063 T 0.22134 1.97 4.83 0.373 0.16178 . 1.095520 0.06942 N 0.813102 T 0.07324 0.0185 L 0.56769 1.78 0.80722 P 0.0 B 0.12630 0.006 B 0.10450 0.005 T 0.35943 -0.9768 9 0.38643 T 0.18 . 4.5422 0.12064 0.2991:0.529:0.0:0.1719 rs3747965;rs17846411;rs17859454;rs52797280;rs59636660;rs3747965 309 Q5QJE6 TDIF2_HUMAN D 309 ENSP00000411010:E309D ENSP00000352137:E309D E - 3 2 DNTTIP2 94115152 0.000000 0.05858 0.001000 0.08648 0.292000 0.27327 -1.753000 0.01818 -0.083000 0.12618 -0.345000 0.07892 GAG NOVEL DNTTIP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000028317.2 0 29.195286 KEEP 0 0 0 97 3471 CC 1 1 0 - 24 60 896 0 0 61.961881 364 60 13665 547 ENST00000436063.2 0.061856 1 DNTTIP2 30836 __UNKNOWN__ __UNKNOWN__ 1 94343023 94343023 __UNKNOWN__ Silent SNP A A G rs2391322 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:94343023A>G ENST00000436063.2 - 2 525 c.468T>C c.(466-468)ccT>ccC p.P156P DNTTIP2_ENST00000460191.1_5'UTR NM_014597.4 NP_055412.2 Q5QJE6 TDIF2_HUMAN deoxynucleotidyltransferase, terminal, interacting protein 2 156 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleolus (GO:0005730)|nucleus (GO:0005634) poly(A) RNA binding (GO:0044822) NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 38 all_lung(203;0.0111)|Lung NSC(277;0.0347) all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128) TTTTTTCTGTAGGAAGCACAA 0.393 NA G||| 2188 0.436901 0.3782 0.3718 5008 , , NA 20363 0.5585 NA 0.3499 False NA ,,, NA NA NA 2504 0.5266 NA NA NA NA 0 G 1395,2271 250,895,688 112 104 106 468 -0.4 0 1 dbSNP_100 106 2925,5263 505,1915,1674 no coding-synonymous DNTTIP2 NM_014597.4 755,2810,2362 GG,GA,AA 35.723,38.0524,36.4434 156/757 94343023 4320,7534 1833 4094 5927 SO:0001819 synonymous_variant AY394925 CCDS44174.1 1p22.1 2008-02-05 ENSG00000067334 ENSG00000067334 30836 24013 protein-coding gene gene with protein product acidic 82 kDa protein mRNA 611199 NA 15047147 Standard NM_014597 NM_014597 NA Approved HSU15552, ERBP, TdIF2 uc001dqf.3 Q5QJE6 OTTHUMG00000010268 ENST00000436063.2:c.468T>C chr1.hg19:g.94343023A>G NA Q12987|Q53H59|Q5TFJ4|Q6TLI0|Q76MJ8|Q86WX9 hg19 CCDS44174.1 0.02 18.28753 TGTxGGA COVERED NOVEL DNTTIP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000028317.2 3 33.69966 KEEP 0 0 0 112 3500 AA 1 1 0 - 24 60 883 0 0 60.018148 388 60 14098 626 ENST00000436063.2 0.058252 1 DNTTIP2 30836 __UNKNOWN__ __UNKNOWN__ 1 94344716 94344716 __UNKNOWN__ 5'UTR SNP C C T rs2235971 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:94344716C>T ENST00000436063.2 - 0 46 DNTTIP2_ENST00000460191.1_5'UTR NM_014597.4 NP_055412.2 Q5QJE6 TDIF2_HUMAN deoxynucleotidyltransferase, terminal, interacting protein 2 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleolus (GO:0005730)|nucleus (GO:0005634) poly(A) RNA binding (GO:0044822) NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 38 all_lung(203;0.0111)|Lung NSC(277;0.0347) all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128) TTTCCGGCTCCCTCGCGACCA 0.587 NA C||| 1744 0.348243 0.093 0.3329 5008 , , NA 18037 0.5565 NA 0.325 False NA ,,, NA NA NA 2504 0.5133 NA NA NA NA 0 C 563,3307 43,477,1415 57 60 59 2.5 0 1 dbSNP_98 59 2759,5507 449,1861,1823 no utr-5 DNTTIP2 NM_014597.4 492,2338,3238 TT,TC,CC 33.3777,14.5478,27.3731 94344716 3322,8814 1935 4133 6068 SO:0001623 5_prime_UTR_variant AY394925 CCDS44174.1 1p22.1 2008-02-05 ENSG00000067334 ENSG00000067334 30836 24013 protein-coding gene gene with protein product acidic 82 kDa protein mRNA 611199 NA 15047147 Standard NM_014597 NM_014597 NA Approved HSU15552, ERBP, TdIF2 uc001dqf.3 Q5QJE6 OTTHUMG00000010268 ENST00000436063.2:c.-12G>A chr1.hg19:g.94344716C>T NA Q12987|Q53H59|Q5TFJ4|Q6TLI0|Q76MJ8|Q86WX9 hg19 CCDS44174.1 0.02 33.308435 CTCxCTC COVERED NOVEL DNTTIP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000028317.2 7 106.223985 KEEP 0 0 0 353 12511 CC 1 1 0 - 47 60 1682 0 0 113.043914 752 60 27870 1436 ENST00000436063.2 0.058824 1 ABCA4 24 __UNKNOWN__ __UNKNOWN__ 1 94511563 94511563 __UNKNOWN__ Intron SNP A A C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:94511563A>C ENST00000370225.3 - 19 3005 ABCA4_ENST00000535735.1_Intron NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 NA NA phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601) integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381) ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215) NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) CCCTGCCCTGACCTTCTGTTA 0.567 NA OREG0013611 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U88667 CCDS747.1 1p22 2013-01-23 ENSG00000198691 ENSG00000198691 24 ATP binding cassette transporters / subfamily A 34 protein-coding gene gene with protein product Stargardt disease 601691 ATP-binding cassette transporter, retinal-specific STGD1, ABCR, RP19, STGD NA 9490294 Standard NM_000350 NM_000350 NA Approved FFM, ARMD2, CORD3 uc001dqh.3 P78363 OTTHUMG00000010622 ENST00000370225.3:c.2918+911T>G chr1.hg19:g.94511563A>C 1306 O15112|O60438|O60915|Q0QD48|Q4LE31 hg19 CCDS747.1 0.02 -0.428619 CTGxCCT COVERED NOVEL ABCA4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000029320.1 0 3.606049 KEEP 0 0 0 12 324 AA 0.993634 0.953748 0 - 4 60 116 0 0 7.567184 45 60 1361 70 ENST00000370225.3 0.081633 0.959859 ABCA4 24 __UNKNOWN__ __UNKNOWN__ 1 94564483 94564483 __UNKNOWN__ Missense_Mutation SNP C C T rs6657239 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:94564483C>T ENST00000370225.3 - 6 721 c.635G>A c.(634-636)cGc>cAc p.R212H ABCA4_ENST00000535735.1_Missense_Mutation_p.R212H NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 212 NA R -> C (in STGD1 and CORD3; common mutation in southern Europe; reduced ATP- binding capacity). {ECO:0000269|PubMed:10711710, ECO:0000269|PubMed:10958761, ECO:0000269|PubMed:10958763, ECO:0000269|PubMed:11385708, ECO:0000269|PubMed:18977788, ECO:0000269|PubMed:9503029, ECO:0000269|PubMed:9781034}.|R -> H (in dbSNP:rs6657239). {ECO:0000269|PubMed:10711710, ECO:0000269|PubMed:10958763, ECO:0000269|PubMed:11379881, ECO:0000269|PubMed:11384574, ECO:0000269|PubMed:11527935}. phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601) integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381) ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215) NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) GATGATGAAGCGCTCCAGGAG 0.602 NA C||| 267 0.0533147 0.0832 0.0375 5008 , , NA 18327 0.0595 NA 0.0517 False NA ,,, NA NA NA 2504 0.0194 NA NA NA NA 0 GRCh37 CM020912 ABCA4 M rs6657239 C HIS/ARG 311,4095 168.3+/-199.2 6,299,1898 55 53 54 http://www.ncbi.nlm.nih.gov/sites/varvu?gene 635 4 1 1 dbSNP_116 54 293,8307 108.2+/-168.9 7,279,4014 no missense ABCA4 NM_000350.2 29 13,578,5912 TT,TC,CC 3.407,7.0586,4.644 probably-damaging 212/2274 94564483 604,12402 2203 4300 6503 SO:0001583 missense U88667 CCDS747.1 1p22 2013-01-23 ENSG00000198691 ENSG00000198691 24 ATP binding cassette transporters / subfamily A 34 protein-coding gene gene with protein product Stargardt disease 601691 ATP-binding cassette transporter, retinal-specific STGD1, ABCR, RP19, STGD NA 9490294 Standard NM_000350 NM_000350 NA Approved FFM, ARMD2, CORD3 uc001dqh.3 P78363 OTTHUMG00000010622 ENST00000370225.3:c.635G>A chr1.hg19:g.94564483C>T ENSP00000359245:p.Arg212His NA O15112|O60438|O60915|Q0QD48|Q4LE31 hg19 CCDS747.1 0.02 8.645672 AAGxGCT COVERED 112 0.05128205128205128 36 0.07317073170731707 11 0.03038674033149171 27 0.0472027972027972 38 0.05013192612137203 C 24.1 4.495284 0.85069 0.070586 0.03407 ENSG00000198691 ENST00000370225;ENST00000535735 D;D 0.91792 -2.79;-2.91 5.83 3.98 0.46160 . 0.071424 0.56097 D 0.000023 D 0.93828 0.8026 M 0.78049 2.395 0.23215 P 0.99810284 D;D 0.89917 0.972;1.0 P;D 0.72338 0.576;0.977 D 0.94093 0.7355 9 0.66056 D 0.02 . 10.8655 0.46853 0.0:0.8525:0.0:0.1475 rs6657239;rs6657239 212;212 F5H6E5;P78363 .;ABCA4_HUMAN H 212 ENSP00000359245:R212H;ENSP00000437682:R212H ENSP00000359245:R212H R - 2 0 ABCA4 94337071 1.000000 0.71417 0.995000 0.50966 0.930000 0.56654 3.776000 0.55356 0.823000 0.34589 -0.244000 0.11960 CGC NOVEL ABCA4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000029320.1 1 27.988633 KEEP 0 0 0 93 3200 CC 1 1 0 - 9 60 324 0 0 20.647481 197 60 6651 352 ENST00000370225.3 0.043689 1 ARHGAP29 9411 __UNKNOWN__ __UNKNOWN__ 1 94674726 94674726 __UNKNOWN__ Intron SNP T T C rs2274788 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:94674726T>C ENST00000260526.6 - 4 620 ARHGAP29_ENST00000370217.3_Intron NM_004815.3 NP_004806.3 Q52LW3 RHG29_HUMAN Rho GTPase activating protein 29 NA NA positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829) metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100) NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) ATACTTCGTTTCCCATGTATG 0.313 NA T||| 921 0.183906 0.0325 0.2421 5008 , , NA 17779 0.3135 NA 0.2435 False NA ,,, NA NA NA 2504 0.1524 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS748.1 1p22.1 2011-06-29 ENSG00000137962 ENSG00000137962 9411 Rho GTPase activating proteins 30207 protein-coding gene gene with protein product 610496 NA 9305890 Standard NM_004815 NM_004815 NA Approved PARG1 uc001dqj.4 Q52LW3 OTTHUMG00000010643 ENST00000260526.6:c.437+83A>G chr1.hg19:g.94674726T>C NA O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6 hg19 CCDS748.1 0.02 1.8566 GTTxCCC COVERED NOVEL ARHGAP29-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000029376.2 0 4.513083 KEEP 0 0 0 15 458 TT 0.99649 0.994052 0 - 5 60 178 0 0 12.301981 67 60 2375 101 ENST00000260526.6 0.069444 0.997553 ABCD3 5825 __UNKNOWN__ __UNKNOWN__ 1 94883995 94883995 __UNKNOWN__ 5'UTR SNP C C T rs4148058|rs67117767 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:94883995C>T ENST00000394233.2 + 0 63 ABCD3_ENST00000536817.1_5'UTR|ABCD3_ENST00000454898.2_5'UTR P28288 ABCD3_HUMAN ATP-binding cassette, sub-family D (ALD), member 3 NA NA ATP catabolic process (GO:0006200)|fatty acid beta-oxidation (GO:0006635)|peroxisome organization (GO:0007031)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760) cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803) breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2) 26 all_lung(203;0.000434)|Lung NSC(277;0.0019) all cancers(265;0.0261)|Epithelial(280;0.165) ccgccgccgccgccgcGTCCC 0.751 NA C||| 264 0.0527157 0.0015 0.0173 5008 , , NA 10066 0.1706 NA 0.0338 False NA ,,, NA NA NA 2504 0.045 NA NA NA NA 0 C , 32,3984 0,32,1976 5 5 5 , -4.3 0 1 dbSNP_110 5 263,7703 1,261,3721 no utr-5,utr-5 ABCD3 NM_001122674.1,NM_002858.3 , 1,293,5697 TT,TC,CC 3.3015,0.7968,2.462 , , 94883995 295,11687 2008 3983 5991 SO:0001623 5_prime_UTR_variant M81182 CCDS749.1, CCDS44175.1 1p21.3 2012-05-16 ENSG00000117528 ENSG00000117528 5825 ATP binding cassette transporters / subfamily D 67 protein-coding gene gene with protein product 170995 PXMP1 NA 1301993, 8449508 Standard NM_002858 NM_002858 NA Approved PMP70, ZWS2 uc001dqn.4 P28288 OTTHUMG00000010717 ENST00000394233.2:c.-40C>T chr1.hg19:g.94883995C>T NA D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529 hg19 0.02 2.0716 CGCxGCC COVERED NOVEL ABCD3-201 KNOWN basic protein_coding NA protein_coding 1 26.18174 KEEP 0 0 0 87 2950 CC 1 0.999895 0 + 6 60 214 0 0 14.633905 86 60 3052 228 ENST00000394233.2 0.065217 0.999895 SLC44A3 126969 __UNKNOWN__ __UNKNOWN__ 1 95305553 95305553 __UNKNOWN__ Silent SNP G G A rs139355124 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:95305553G>A ENST00000529450.1 + 7 675 c.624G>A c.(622-624)ctG>ctA p.L208L SLC44A3_ENST00000527077.1_Silent_p.L172L|SLC44A3_ENST00000532427.1_Silent_p.L160L|SLC44A3_ENST00000467909.1_Silent_p.L192L|SLC44A3_ENST00000530397.1_3'UTR|SLC44A3_ENST00000271227.6_Silent_p.L240L|SLC44A3_ENST00000446120.2_Silent_p.L204L|RP11-465K1.2_ENST00000422162.1_RNA Q8N4M1 CTL3_HUMAN solute carrier family 44, member 3 240 NA glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1) 23 all_lung(203;0.000712)|Lung NSC(277;0.00316) all cancers(265;0.039)|Epithelial(280;0.124) Choline(DB00122) CCACCCTTCTGGTTCACATTT 0.348 NA G||| 33 0.00658946 0.0 0.0 5008 , , NA 18695 0.0327 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 386 345 359 NA NA 1 NA 95305553 2203 4300 6503 SO:0001819 synonymous_variant BC033858 CCDS751.1, CCDS44176.1, CCDS58011.1, CCDS58012.1, CCDS58013.1, CCDS72827.1 1p22.1 2013-05-22 2005-09-06 ENSG00000143036 ENSG00000143036 126969 Solute carriers 28689 protein-coding gene gene with protein product solute carrier family, member 3 NA 15715662, 12975309 Standard NM_152369 NM_001114106 NA Approved MGC45474, CTL3 uc001dqv.5 Q8N4M1 OTTHUMG00000010700 ENST00000529450.1:c.624G>A chr1.hg19:g.95305553G>A NA B4DVY4|B4E1M4|B7ZA08|E9PJH2|E9PJY8|Q6UWT1|Q7Z6C5|Q9BWY7 hg19 CCDS58011.1 0.02 16.796154 TCTxGTT COVERED NOVEL SLC44A3-006 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000382369.1 0 12.319489 KEEP 0 0 0 41 1402 GG 1 1 0 + 12 60 443 0 0 26.630169 388 60 14191 492 ENST00000529450.1 0.03 1 SLC44A3 126969 __UNKNOWN__ __UNKNOWN__ 1 95358096 95358096 __UNKNOWN__ Intron SNP A A G rs859063 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:95358096A>G ENST00000529450.1 + 14 1809 SLC44A3_ENST00000527077.1_Intron|SLC44A3_ENST00000532427.1_Intron|SLC44A3_ENST00000467909.1_Intron|SLC44A3_ENST00000271227.6_Intron|SLC44A3_ENST00000446120.2_Intron Q8N4M1 CTL3_HUMAN solute carrier family 44, member 3 NA NA glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1) 23 all_lung(203;0.000712)|Lung NSC(277;0.00316) all cancers(265;0.039)|Epithelial(280;0.124) Choline(DB00122) TTCATTTCCAATTGCAATCTC 0.423 NA A||| 2267 0.452676 0.3253 0.5144 5008 , , NA 19710 0.4157 NA 0.6014 False NA ,,, NA NA NA 2504 0.4663 NA NA NA NA 0 A , 1625,2781 498.6+/-364.2 298,1029,876 106 106 106 , -4.1 0 1 dbSNP_86 106 5166,3434 637.0+/-399.2 1565,2036,699 no intron,intron SLC44A3 NM_001114106.1,NM_152369.3 , 1863,3065,1575 GG,GA,AA 39.9302,36.8815,47.7856 , , 95358096 6791,6215 2203 4300 6503 SO:0001627 intron_variant BC033858 CCDS751.1, CCDS44176.1, CCDS58011.1, CCDS58012.1, CCDS58013.1, CCDS72827.1 1p22.1 2013-05-22 2005-09-06 ENSG00000143036 ENSG00000143036 126969 Solute carriers 28689 protein-coding gene gene with protein product solute carrier family, member 3 NA 15715662, 12975309 Standard NM_152369 NM_001114106 NA Approved MGC45474, CTL3 uc001dqv.5 Q8N4M1 OTTHUMG00000010700 ENST00000529450.1:c.1758+23A>G chr1.hg19:g.95358096A>G NA B4DVY4|B4E1M4|B7ZA08|E9PJH2|E9PJY8|Q6UWT1|Q7Z6C5|Q9BWY7 hg19 CCDS58011.1 0.02 4.352382 CCAxTTG COVERED NOVEL SLC44A3-006 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000382369.1 2 7.257892 KEEP 0 1 37 37 1170 AA 1 1 0 + 5 60 190 0 0 12.236046 122 60 4503 195 ENST00000529450.1 0.03937 1 CNN3 1266 __UNKNOWN__ __UNKNOWN__ 1 95367649 95367649 __UNKNOWN__ Intron SNP T T C rs859058 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:95367649T>C ENST00000370206.4 - 4 768 CNN3_ENST00000394202.4_Intron|CNN3_ENST00000545882.1_Intron|CNN3_ENST00000487539.1_Intron|CNN3_ENST00000538964.1_Intron NM_001839.3 NP_001830.1 Q15417 CNN3_HUMAN calponin 3, acidic NA NA actomyosin structure organization (GO:0031032)|epithelial cell differentiation (GO:0030855) focal adhesion (GO:0005925) breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|stomach(1)|urinary_tract(2) 18 all_lung(203;0.00206)|Lung NSC(277;0.00948) all cancers(265;0.0325)|Epithelial(280;0.0861) GGGAATCTGTTAACCAGCCAT 0.463 NA T||| 2209 0.441094 0.2784 0.513 5008 , , NA 16819 0.4196 NA 0.6034 False NA ,,, NA NA NA 2504 0.4652 NA NA NA NA 0 T 1469,2937 472.6+/-356.4 260,949,994 109 105 106 2.3 0 1 dbSNP_86 106 5165,3435 638.1+/-399.3 1566,2033,701 no intron CNN3 NM_001839.3 1826,2982,1695 CC,CT,TT 39.9419,33.3409,48.9928 95367649 6634,6372 2203 4300 6503 SO:0001627 intron_variant BC025372 CCDS30775.1, CCDS65592.1, CCDS65593.1 1p22-p21 2010-07-08 ENSG00000117519 ENSG00000117519 1266 2157 protein-coding gene gene with protein product 602374 NA 8526917 Standard NM_001839 NM_001839 NA Approved uc001dqz.4 Q15417 OTTHUMG00000010783 ENST00000370206.4:c.384+27A>G chr1.hg19:g.95367649T>C NA B4DFK6|B4DP09|F8WA86|Q6FHA7 hg19 CCDS30775.1 0.02 3.804836 TGTxAAC COVERED NOVEL CNN3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000029702.2 2 3.425261 KEEP 0 4 139 60 1674 TT 1 1 0 - 7 60 230 0 0 14.273051 138 60 4774 257 ENST00000370206.4 0.048276 1 TMEM56 148534 __UNKNOWN__ __UNKNOWN__ 1 95657151 95657151 __UNKNOWN__ Silent SNP C C T rs144227475 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:95657151C>T ENST00000370203.4 + 7 810 c.519C>T c.(517-519)atC>atT p.I173I RP11-57H12.3_ENST00000421762.1_RNA|RP11-57H12.6_ENST00000604534.1_Intron|RP11-57H12.3_ENST00000419846.1_RNA NM_001199679.1|NM_152487.2 NP_001186608.1|NP_689700.1 Q96MV1 TMM56_HUMAN transmembrane protein 56 173 TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}. NA integral component of membrane (GO:0016021) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1) 12 all_lung(203;0.0232)|Lung NSC(277;0.0739) all cancers(265;0.133) CTAAAGCTATCGTTATCAATG 0.378 NA C||| 4 0.000798722 0.0 0.0 5008 , , NA 19546 0.004 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 150 138 142 NA NA 1 NA 95657151 2203 4300 6503 SO:0001819 synonymous_variant CCDS753.1 1p21.3 2008-02-05 ENSG00000152078 ENSG00000152078 148534 26477 protein-coding gene gene with protein product NA Standard NM_152487 NM_152487 NA Approved FLJ31842 uc001drb.3 Q96MV1 OTTHUMG00000010847 ENST00000370203.4:c.519C>T chr1.hg19:g.95657151C>T NA B2RPI2|D3DT48 hg19 CCDS753.1 0.02 14.079196 TATxGTT COVERED NOVEL TMEM56-001 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000029935.1 0 13.242483 KEEP 0 0 0 44 1496 CC 1 1 0 + 11 60 400 0 0 23.481115 381 60 13942 522 ENST00000370203.4 0.028061 1 TMEM56 148534 __UNKNOWN__ __UNKNOWN__ 1 95657959 95657959 __UNKNOWN__ 3'UTR SNP A A C rs17113161 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:95657959A>C ENST00000370203.4 + 0 1618 RP11-57H12.3_ENST00000421762.1_RNA|RP11-57H12.6_ENST00000604534.1_Intron|RP11-57H12.3_ENST00000419846.1_RNA NM_001199679.1|NM_152487.2 NP_001186608.1|NP_689700.1 Q96MV1 TMM56_HUMAN transmembrane protein 56 NA NA integral component of membrane (GO:0016021) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1) 12 all_lung(203;0.0232)|Lung NSC(277;0.0739) all cancers(265;0.133) TAAAAATCTTAAAGGTTTAAA 0.264 NA A||| 397 0.0792732 0.0061 0.1052 5008 , , NA 18025 0.0903 NA 0.1143 False NA ,,, NA NA NA 2504 0.1125 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS753.1 1p21.3 2008-02-05 ENSG00000152078 ENSG00000152078 148534 26477 protein-coding gene gene with protein product NA Standard NM_152487 NM_152487 NA Approved FLJ31842 uc001drb.3 Q96MV1 OTTHUMG00000010847 ENST00000370203.4:c.*535A>C chr1.hg19:g.95657959A>C NA B2RPI2|D3DT48 hg19 CCDS753.1 0.02 8.754462 CTTxAAG COVERED NOVEL TMEM56-001 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000029935.1 2 13.838873 KEEP 0 0 0 46 1383 AA 1 1 0 + 7 60 270 0 0 16.616643 232 60 8330 344 ENST00000370203.4 0.029289 1 TMEM56 148534 __UNKNOWN__ __UNKNOWN__ 1 95661540 95661540 __UNKNOWN__ 3'UTR SNP A A G rs10518566 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:95661540A>G ENST00000370203.4 + 0 5199 RP11-57H12.3_ENST00000421762.1_RNA|RP11-57H12.6_ENST00000604534.1_Intron|RP11-57H12.3_ENST00000419846.1_RNA NM_001199679.1|NM_152487.2 NP_001186608.1|NP_689700.1 Q96MV1 TMM56_HUMAN transmembrane protein 56 NA NA integral component of membrane (GO:0016021) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1) 12 all_lung(203;0.0232)|Lung NSC(277;0.0739) all cancers(265;0.133) CTCTTATGGCAAATTTAAAAG 0.363 NA A||| 200 0.0399361 0.0045 0.0663 5008 , , NA 19045 0.0179 NA 0.1093 False NA ,,, NA NA NA 2504 0.0204 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS753.1 1p21.3 2008-02-05 ENSG00000152078 ENSG00000152078 148534 26477 protein-coding gene gene with protein product NA Standard NM_152487 NM_152487 NA Approved FLJ31842 uc001drb.3 Q96MV1 OTTHUMG00000010847 ENST00000370203.4:c.*4116A>G chr1.hg19:g.95661540A>G NA B2RPI2|D3DT48 hg19 CCDS753.1 0.02 10.316414 GGCxAAT COVERED NOVEL TMEM56-001 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000029935.1 2 18.344653 KEEP 0 0 0 61 1892 AA 1 1 0 + 9 60 318 0 0 19.061396 255 60 9247 390 ENST00000370203.4 0.034091 1 DPYD 1806 __UNKNOWN__ __UNKNOWN__ 1 98058913 98058913 __UNKNOWN__ Missense_Mutation SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:98058913G>A ENST00000370192.3 - 10 1089 c.989C>T c.(988-990)tCg>tTg p.S330L NM_000110.3 NP_000101 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 330 NA beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212) cytoplasm (GO:0005737)|cytosol (GO:0005829) 4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803) NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544) TCCCCGTATCGATGGCAATGG 0.478 NA NA NA NA NA NA NA NA NA NA NA 0 124 105 111 NA NA 1 NA 98058913 2203 4300 6503 SO:0001583 missense U20938 CCDS30777.1, CCDS53346.1 1p22 2014-09-17 ENSG00000188641 ENSG00000188641 1806 1.3.1.2 3012 protein-coding gene gene with protein product 612779 NA 7713523 Standard NM_000110 NM_000110 NA Approved DPD uc001drv.3 Q12882 OTTHUMG00000039683 ENST00000370192.3:c.989C>T chr1.hg19:g.98058913G>A ENSP00000359211:p.Ser330Leu NA A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1 hg19 CCDS30777.1 0.02 6.017403 ATCxATG COVERED . . . . . . . . . . G 13.89 2.372394 0.42003 . . ENSG00000188641 ENST00000370192 D 0.89552 -2.53 6.17 6.17 0.99709 . 0.471231 0.25578 N 0.029703 D 0.82490 0.5048 M 0.64080 1.96 0.80722 D 1 B 0.32731 0.382 B 0.14578 0.011 T 0.80986 -0.1137 10 0.39692 T 0.17 -9.452 19.0599 0.93085 0.0:0.0:1.0:0.0 . 330 Q12882 DPYD_HUMAN L 330 ENSP00000359211:S330L ENSP00000359211:S330L S - 2 0 DPYD 97831501 1.000000 0.71417 0.993000 0.49108 0.674000 0.39518 3.251000 0.51453 2.941000 0.99782 0.655000 0.94253 TCG NOVEL DPYD-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000095698.3 1 16.840819 KEEP 0 0 0 56 1859 GG 1 1 0 - 6 60 216 0 0 13.274556 159 60 5822 254 ENST00000370192.3 0.036364 1 LPPR4 0 __UNKNOWN__ __UNKNOWN__ 1 99774707 99774707 __UNKNOWN__ 3'UTR SNP A A G rs58412609 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:99774707A>G ENST00000370185.3 + 0 4930 LPPR4_ENST00000457765.1_3'UTR|LPPR4_ENST00000370184.1_3'UTR NM_014839.4 NP_055654.2 Q7Z2D5 LPPR4_HUMAN NA NA axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839) integral component of plasma membrane (GO:0005887) lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 72 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) ATAATGATAGACACTAGAACT 0.274 NA A||| 236 0.0471246 0.0 0.0043 5008 , , NA 13894 0.1419 NA 0.005 False NA ,,, NA NA NA 2504 0.0869 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant NA NA NA NA ENST00000370185.3:c.*2141A>G chr1.hg19:g.99774707A>G NA E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0 hg19 CCDS757.1 0.02 6.437327 TAGxCAC COVERED NOVEL LPPR4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000029670.2 1 6.319462 KEEP 0 0 0 21 677 AA 0.999869 0.999869 0 + 6 60 226 0 0 14.13229 168 60 6093 254 ENST00000370185.3 0.034483 1 FRRS1 391059 __UNKNOWN__ __UNKNOWN__ 1 100176245 100176245 __UNKNOWN__ Intron SNP A A G rs150679490 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:100176245A>G ENST00000287474.5 - 15 2198 FRRS1_ENST00000414213.1_Intron NM_001013660.2 NP_001013682.2 Q6ZNA5 FRRS1_HUMAN ferric-chelate reductase 1 NA NA integral component of membrane (GO:0016021) ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872) breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1) 26 all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201) Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206) CTGAGTGATCACAAGTTTTTA 0.353 NA A||| 38 0.00758786 0.0 0.0 5008 , , NA 22846 0.0347 NA 0.0 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK131302 CCDS30780.1 1p21.3 2009-11-30 2006-02-22 2006-02-22 ENSG00000156869 ENSG00000156869 391059 27622 protein-coding gene gene with protein product 611578 stromal cell derived factor receptor 2 homolog (mouse) SDFR2 NA Standard NM_001013660 NM_001013660 NA Approved SDR2 uc001dsh.1 Q6ZNA5 OTTHUMG00000010768 ENST00000287474.5:c.1596+144T>C chr1.hg19:g.100176245A>G NA A6NLN7 hg19 CCDS30780.1 0.02 3.56964 ATCxCAA COVERED NOVEL FRRS1-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000029677.3 0 3.610337 KEEP 0 0 0 12 361 AA 0.993634 0.99363 0 - 6 60 198 0 0 12.438535 109 60 3997 127 ENST00000287474.5 0.052174 0.999997 AGL 178 __UNKNOWN__ __UNKNOWN__ 1 100316589 100316589 __UNKNOWN__ Splice_Site SNP A A G rs2307130 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:100316589A>G ENST00000370165.3 + 2 130 c.e2-1 AGL_ENST00000370163.3_5'UTR|AGL_ENST00000294724.4_5'UTR|AGL_ENST00000361302.3_5'UTR|AGL_ENST00000361915.3_5'UTR NM_000644.2 NP_000635.2 P35573 GDE_HUMAN amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase NA NA carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529) 4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1) 69 all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131) Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237) CAAATCCTCTAGAAGCCAAAA 0.353 NA A||| 2139 0.427117 0.2231 0.4726 5008 , , NA 16810 0.5198 NA 0.4573 False NA ,,, NA NA NA 2504 0.544 NA NA NA NA 0 A ,,,, 1222,3184 418.5+/-338.3 165,892,1146 110 120 117 ,,,, 2.6 0.3 1 dbSNP_100 117 4185,4415 567.4+/-388.8 1020,2145,1135 yes utr-5,utr-5,utr-5,splice-3,utr-5 AGL NM_000028.2,NM_000642.2,NM_000643.2,NM_000644.2,NM_000646.2 ,,,, 1185,3037,2281 GG,GA,AA 48.6628,27.7349,41.5731 ,,,, ,,,, 100316589 5407,7599 2203 4300 6503 SO:0001630 splice_region_variant BC078663 CCDS759.1, CCDS760.1, CCDS761.1 1p21 2010-04-27 2010-04-27 ENSG00000162688 ENSG00000162688 178 2.4.1.25, 3.2.1.33 321 protein-coding gene gene with protein product glycogen debranching enzyme, glycogen storage disease type III 610860 amylo-1, 6-glucosidase, 4-alpha-glucanotransferase NA 1505983 Standard NM_000028 NM_000028 NA Approved uc001dsi.1 P35573 OTTHUMG00000010803 ENST00000370165.3:c.-8-1A>G chr1.hg19:g.100316589A>G NA A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08 hg19 CCDS759.1 0.02 19.160983 TCTxGAA COVERED NOVEL AGL-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000029776.1 4 26.217732 KEEP 0 4 140 136 4290 AA 1 1 0 Intron + 29 60 1093 0 0 76.463561 420 60 15508 759 ENST00000370165.3 0.064588 1 AGL 178 __UNKNOWN__ __UNKNOWN__ 1 100336361 100336361 __UNKNOWN__ Silent SNP C C T rs2230306 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:100336361C>T ENST00000294724.4 + 7 1372 c.894C>T c.(892-894)ctC>ctT p.L298L AGL_ENST00000370163.3_Silent_p.L298L|AGL_ENST00000361522.4_Silent_p.L281L|AGL_ENST00000370165.3_Silent_p.L298L|AGL_ENST00000370161.2_Silent_p.L282L|AGL_ENST00000361302.3_Silent_p.L282L|AGL_ENST00000361915.3_Silent_p.L298L NM_000028.2 NP_000019.2 P35573 GDE_HUMAN amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 298 NA carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529) 4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1) 69 all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131) Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237) AGCTTAAACTCTGGGAATTTT 0.294 NA C||| 3819 0.76258 0.9334 0.7017 5008 , , NA 15999 0.6835 NA 0.6759 False NA ,,, NA NA NA 2504 0.7454 NA NA NA NA 0 C ,,,,, 3931,397 1795,341,28 33 39 37 894,894,894,894,843,846 4.6 1 1 dbSNP_98 37 5957,2605 2062,1833,386 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous AGL NM_000028.2,NM_000642.2,NM_000643.2,NM_000644.2,NM_000645.2,NM_000646.2 ,,,,, 3857,2174,414 TT,TC,CC 30.4251,9.1728,23.2894 ,,,,, 298/1533,298/1533,298/1533,298/1533,281/1516,282/1517 100336361 9888,3002 2164 4281 6445 SO:0001819 synonymous_variant BC078663 CCDS759.1, CCDS760.1, CCDS761.1 1p21 2010-04-27 2010-04-27 ENSG00000162688 ENSG00000162688 178 2.4.1.25, 3.2.1.33 321 protein-coding gene gene with protein product glycogen debranching enzyme, glycogen storage disease type III 610860 amylo-1, 6-glucosidase, 4-alpha-glucanotransferase NA 1505983 Standard NM_000028 NM_000028 NA Approved uc001dsi.1 P35573 OTTHUMG00000010803 ENST00000294724.4:c.894C>T chr1.hg19:g.100336361C>T NA A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08 hg19 CCDS759.1 0.02 6.395976 ACTxTGG COVERED NOVEL AGL-004 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000029778.1 1 9.366297 KEEP 0 1 34 43 1543 CC 1 1 0 + 6 60 209 0 0 12.732519 150 60 5787 268 ENST00000294724.4 0.038462 1 AGL 178 __UNKNOWN__ __UNKNOWN__ 1 100340225 100340225 __UNKNOWN__ Intron SNP G G A rs634880 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:100340225G>A ENST00000294724.4 + 8 1436 AGL_ENST00000370163.3_Intron|AGL_ENST00000361522.4_Intron|AGL_ENST00000370165.3_Intron|AGL_ENST00000370161.2_Intron|AGL_ENST00000477753.1_3'UTR|AGL_ENST00000361302.3_Intron|AGL_ENST00000361915.3_Intron NM_000028.2 NP_000019.2 P35573 GDE_HUMAN amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase NA NA carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529) 4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1) 69 all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131) Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237) TTAAGGTATCGTCTTTTCTTT 0.303 NA A||| 3723 0.743411 0.8691 0.683 5008 , , NA 15076 0.6954 NA 0.6859 False NA ,,, NA NA NA 2504 0.7249 NA NA NA NA 0 A ,,,,, 3687,719 295.9+/-283.9 1540,607,56 56 52 54 ,,,,, -9.1 0 1 dbSNP_83 54 6044,2554 410.8+/-350.3 2106,1832,361 no intron,intron,intron,intron,intron,intron AGL NM_000028.2,NM_000642.2,NM_000643.2,NM_000644.2,NM_000645.2,NM_000646.2 ,,,,, 3646,2439,417 AA,AG,GG 29.7046,16.3187,25.1692 ,,,,, ,,,,, 100340225 9731,3273 2203 4299 6502 SO:0001627 intron_variant BC078663 CCDS759.1, CCDS760.1, CCDS761.1 1p21 2010-04-27 2010-04-27 ENSG00000162688 ENSG00000162688 178 2.4.1.25, 3.2.1.33 321 protein-coding gene gene with protein product glycogen debranching enzyme, glycogen storage disease type III 610860 amylo-1, 6-glucosidase, 4-alpha-glucanotransferase NA 1505983 Standard NM_000028 NM_000028 NA Approved uc001dsi.1 P35573 OTTHUMG00000010803 ENST00000294724.4:c.959-18G>A chr1.hg19:g.100340225G>A NA A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08 hg19 CCDS759.1 0.02 6.605129 ATCxTCT COVERED NOVEL AGL-004 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000029778.1 0 7.823693 KEEP 0 0 0 26 833 GG 0.999957 0.999957 0 + 11 60 403 0 0 27.334437 178 60 5977 243 ENST00000294724.4 0.058201 1 HIAT1 64645 __UNKNOWN__ __UNKNOWN__ 1 100546245 100546245 __UNKNOWN__ Intron SNP A A G rs2271082 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:100546245A>G ENST00000370152.3 + 11 1402 RP4-714D9.2_ENST00000432294.1_RNA NM_033055.2 NP_149044.2 Q96MC6 HIAT1_HUMAN hippocampus abundant transcript 1 NA NA transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) transporter activity (GO:0005215) breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1) 16 all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131) Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195) ATCAAATTGTATGGTTCATTT 0.358 NA A||| 296 0.0591054 0.1014 0.0187 5008 , , NA 18891 0.1151 NA 0.0099 False NA ,,, NA NA NA 2504 0.0235 NA NA NA NA 0 A 313,4093 166.5+/-197.7 12,289,1902 101 101 101 -3.3 0 1 dbSNP_100 101 93,8507 52.7+/-113.3 0,93,4207 no intron HIAT1 NM_033055.2 12,382,6109 GG,GA,AA 1.0814,7.1039,3.1216 100546245 406,12600 2203 4300 6503 SO:0001627 intron_variant AK096669 CCDS763.1 1p21.3 2008-02-05 ENSG00000156875 ENSG00000156875 64645 23363 protein-coding gene gene with protein product NA 9299464 Standard NM_033055 NM_033055 NA Approved DKFZP564L0864 uc001dst.3 Q96MC6 OTTHUMG00000010755 ENST00000370152.3:c.1266+30A>G chr1.hg19:g.100546245A>G NA Q6P2N7|Q8N8K2|Q8NBV3|Q96NY0|Q9NT25 hg19 CCDS763.1 0.02 10.26093 TGTxTGG COVERED NOVEL HIAT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000029657.1 1 13.238105 KEEP 0 0 0 44 1324 AA 1 1 0 + 9 60 336 0 0 20.426323 285 60 10488 379 ENST00000370152.3 0.030612 1 TRMT13 54482 __UNKNOWN__ __UNKNOWN__ 1 100614419 100614419 __UNKNOWN__ 3'UTR SNP A A T rs72728143 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:100614419A>T ENST00000370141.2 + 0 1495 LRRC39_ENST00000370137.1_3'UTR|LRRC39_ENST00000342895.3_3'UTR|LRRC39_ENST00000370138.1_3'UTR NM_019083.2 NP_061956.2 Q9NUP7 TRM13_HUMAN tRNA methyltransferase 13 homolog (S. cerevisiae) NA NA tRNA processing (GO:0008033) metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168) NA ACCaaaaaaaattttttaatt 0.254 NA a||| 448 0.0894569 0.0756 0.0562 5008 , , NA 11764 0.1121 NA 0.1372 False NA ,,, NA NA NA 2504 0.0593 NA NA NA NA 0 8 8 8 NA NA 1 NA 100614419 2037 4196 6233 SO:0001624 3_prime_UTR_variant BC075811 CCDS765.1 1p21.2 2012-06-07 2012-06-07 2012-06-07 ENSG00000122435 ENSG00000122435 54482 25502 protein-coding gene gene with protein product coiled-coil domain containing 76 CCDC76 NA 11799066 Standard NM_019083 NM_019083 NA Approved FLJ10287, FLJ11219 uc001dsv.3 Q9NUP7 OTTHUMG00000010841 ENST00000370141.2:c.*43A>T chr1.hg19:g.100614419A>T NA Q5VVL0|Q9NW65 hg19 CCDS765.1 0.02 4.334886 AAAxTTT COVERED NOVEL TRMT13-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000029919.1 0 13.838771 KEEP 0 0 0 46 1407 AA 1 1 0 + 6 60 217 0 0 14.007897 124 60 4482 218 ENST00000370141.2 0.046154 1 CDC14A 8556 __UNKNOWN__ __UNKNOWN__ 1 100858699 100858699 __UNKNOWN__ Intron SNP T T C rs7513335 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:100858699T>C ENST00000361544.6 + 4 773 CDC14A_ENST00000542213.1_Intron|CDC14A_ENST00000370125.2_Intron|CDC14A_ENST00000370124.3_Intron|CDC14A_ENST00000336454.3_Intron|CDC14A_ENST00000544534.1_Intron NM_033312.2 NP_201569.1 Q9UNH5 CC14A_HUMAN cell division cycle 14A NA NA cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283) centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634) phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138) breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1) 31 all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001) Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241) TAATTCTTACTACAGATATCC 0.333 NA C||| 1030 0.205671 0.4932 0.1081 5008 , , NA 20926 0.0496 NA 0.168 False NA ,,, NA NA NA 2504 0.0859 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF000367 CCDS769.1, CCDS770.1, CCDS771.1 1p21 2013-01-17 2013-01-17 ENSG00000079335 ENSG00000079335 8556 Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s 1718 protein-coding gene gene with protein product 603504 CDC10 (cell division cycle 10, S. cerevisiae, homolog), CDC14 cell division cycle 14 homolog A (S. cerevisiae) NA 9367992, 10409437 Standard NM_033312 NM_033312 NA Approved Cdc14A1, Cdc14A2, cdc14 uc001dtf.2 Q9UNH5 OTTHUMG00000010987 ENST00000361544.6:c.309+2319T>C chr1.hg19:g.100858699T>C NA A6MA65|B1AQ14|B1AQ15|O43171|O60727|O60728|Q52LH9|Q8IXX0 hg19 CCDS770.1 0.02 2.003461 TACxACA COVERED NOVEL CDC14A-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000030221.1 0 3.911715 KEEP 0 0 0 13 401 TT 0.994391 0.993389 0 + 4 60 147 0 0 9.75866 74 60 2719 108 ENST00000361544.6 0.051282 0.998993 OLFM3 118427 __UNKNOWN__ __UNKNOWN__ 1 102271774 102271774 __UNKNOWN__ Intron SNP G G A rs4907955 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:102271774G>A ENST00000338858.5 - 5 652 OLFM3_ENST00000462354.1_Intron|OLFM3_ENST00000536598.1_Intron|OLFM3_ENST00000370103.4_Intron Q96PB7 NOE3_HUMAN olfactomedin 3 NA NA eye photoreceptor cell development (GO:0042462) alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202) breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 43 all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189) all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145) TTAGGTGAACGCAGCCAATGA 0.398 NA A||| 2626 0.524361 0.5908 0.415 5008 , , NA 18818 0.6478 NA 0.5845 False NA ,,, NA NA NA 2504 0.3231 NA NA NA NA 0 A 2452,1954 551.5+/-378.3 687,1078,438 75 67 70 3 0 1 dbSNP_111 70 5027,3571 514.7+/-378.5 1480,2067,752 no intron OLFM3 NM_058170.2 2167,3145,1190 AA,AG,GG 41.5329,44.3486,42.4869 102271774 7479,5525 2203 4299 6502 SO:0001627 intron_variant AF397392 CCDS30781.1, CCDS72832.1 1p22 2008-05-23 ENSG00000118733 ENSG00000118733 118427 17990 protein-coding gene gene with protein product optimedin 607567 NA 12019210, 16115881 Standard NM_001288821 NA Approved NOE3 uc001dug.2 Q96PB7 OTTHUMG00000010941 ENST00000338858.5:c.653-36C>T chr1.hg19:g.102271774G>A NA Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6 hg19 0.02 12.603176 AACxCAG COVERED NOVEL OLFM3-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000030142.1 2 8.126587 KEEP 0 0 0 27 959 GG 0.999988 0.999988 0 - 9 60 331 0 0 19.722154 301 60 10734 413 ENST00000338858.5 0.029032 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 102462739 102462739 __UNKNOWN__ IGR SNP T T G rs1105280 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:102462739T>G NA NA OLFM3 (153 upstream) : RP11-202K23.1 (202555 downstream) NA NA NA GATAAAGGGATTAACTGCTGA 0.522 NA G||| 407 0.08127 0.0968 0.0245 5008 , , NA 18164 0.1548 NA 0.0129 False NA ,,, NA NA NA 2504 0.0951 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.102462739T>G NA hg19 0.02 4.15632 GGAxTAA COVERED NOVEL 0 2 5.416604 KEEP 0 0 0 18 582 TT 0.999859 0.999859 0 5 60 189 0 0 11.936807 134 60 4795 173 0.035971 1 RP11-364B6.1 0 __UNKNOWN__ __UNKNOWN__ 1 104616337 104616337 __UNKNOWN__ lincRNA SNP A A G rs6664203 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:104616337A>G ENST00000418362.1 + 0 693 NR_033990.1 NA NA NA CGCCGTCTGAAGGACGTTTAG 0.542 NA G||| 3183 0.635583 0.7398 0.7392 5008 , , NA 17522 0.754 NA 0.5268 False NA ,,, NA NA NA 2504 0.411 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000418362.1: chr1.hg19:g.104616337A>G NA hg19 0.02 2.115437 TGAxGGA COVERED NOVEL RP11-364B6.1-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000030377.1 1 3.308465 KEEP 0 0 0 11 330 AA 0.993072 0.992842 0 + 4 60 145 0 0 9.344799 84 60 3107 115 ENST00000418362.1 0.045455 0.999768 RP5-947P14.1 0 __UNKNOWN__ __UNKNOWN__ 1 106623469 106623469 __UNKNOWN__ lincRNA SNP G G C rs61735190 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:106623469G>C ENST00000437803.1 + 0 165 NA NA NA CAGGGCTTCCGGTTCACAGGT 0.622 NA G||| 646 0.128994 0.0772 0.1873 5008 , , NA 13120 0.2996 NA 0.0368 False NA ,,, NA NA NA 2504 0.0767 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000437803.1: chr1.hg19:g.106623469G>C NA hg19 0.02 2.062565 TCCxGTT COVERED NOVEL RP5-947P14.1-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000030361.1 0 3.611477 KEEP 0 0 0 12 409 GG 0.993634 0.981653 0 + 5 60 179 0 0 12.817734 55 60 1875 94 ENST00000437803.1 0.083333 0.987943 RP5-947P14.1 0 __UNKNOWN__ __UNKNOWN__ 1 106623562 106623562 __UNKNOWN__ lincRNA SNP A A T rs61735188 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:106623562A>T ENST00000437803.1 + 0 165 NA NA NA TCTCCCACGAACCCTCGGGCT 0.667 NA t||| 627 0.1252 0.0756 0.1873 5008 , , NA 13401 0.3016 NA 0.0358 False NA ,,, NA NA NA 2504 0.0583 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000437803.1: chr1.hg19:g.106623562A>T NA hg19 0.02 -0.438493 CGAxCCC COVERED NOVEL RP5-947P14.1-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000030361.1 1 3.609938 KEEP 0 0 0 12 347 AA 0.993634 0.953748 0 + 4 60 148 0 0 10.657081 46 60 1507 73 ENST00000437803.1 0.08 0.959859 NTNG1 22854 __UNKNOWN__ __UNKNOWN__ 1 108025363 108025363 __UNKNOWN__ 3'UTR SNP G G C rs143392348 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:108025363G>C ENST00000370067.1 + 0 3911 Q9Y2I2 NTNG1_HUMAN netrin G1 NA NA axonogenesis (GO:0007409) anchored component of plasma membrane (GO:0046658) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1) 37 all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243) Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245) AACAGGGAAGGGGGGAGGAAT 0.433 NA G||| 25 0.00499201 0.0 0.0029 5008 , , NA 20388 0.0228 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB023193 CCDS30785.1, CCDS44179.1, CCDS44180.1 1p13.2-p13.1 2013-03-01 ENSG00000162631 ENSG00000162631 22854 Netrins 23319 protein-coding gene gene with protein product netrin G1f, Netrin-G1 608818 NA 10964959 Standard NM_014917 NM_001113226 NA Approved KIAA0976, Lmnt1 uc001dvh.4 Q9Y2I2 OTTHUMG00000010965 ENST00000370067.1:c.*1901G>C chr1.hg19:g.108025363G>C NA Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633 hg19 0.02 6.657622 AAGxGGG COVERED NOVEL NTNG1-004 NOVEL not_organism_supported|basic protein_coding NA protein_coding OTTHUMT00000030338.1 1 8.426408 KEEP 0 0 0 28 955 GG 0.999997 0.999997 0 + 10 60 352 0 0 23.134693 173 60 6312 247 ENST00000370067.1 0.054645 1 NBPF6 653149 __UNKNOWN__ __UNKNOWN__ 1 109010230 109010230 __UNKNOWN__ Silent SNP G G A rs201618980 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:109010230G>A ENST00000444143.2 + 14 2036 c.1818G>A c.(1816-1818)ccG>ccA p.P606P NBPF6_ENST00000370040.3_Silent_p.P635P|NBPF6_ENST00000294652.8_3'UTR|NBPF6_ENST00000495380.2_Silent_p.P606P Q5VWK0 NBPF6_HUMAN neuroblastoma breakpoint family, member 6 606 NA cytoplasm (GO:0005737) endometrium(2) 2 GAAGACTCCCGTTCAGCAAGT 0.517 NA NA NA NA NA NA NA NA NA NA NA 0 11 27 22 NA NA 1 NA 109010230 654 1508 2162 SO:0001819 synonymous_variant CCDS44184.1 1p13.3 2013-01-17 ENSG00000186086 653149 neuroblastoma breakpoint family 31988 protein-coding gene gene with protein product 613996 NA 16079250 Standard XM_926213 NM_001143987 NA Approved uc009wep.3 Q5VWK0 OTTHUMG00000039830 ENST00000444143.2:c.1818G>A chr1.hg19:g.109010230G>A NA A4QN25 hg19 CCDS44184.1 0.02 18.284012 CCCxTTC COVERED NOVEL NBPF6-203 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000276886.3 6 15.649884 KEEP 180 0 0 52 1788 GG 0.999998 0.999998 0 + 15 47 557 0 0 35.077334 386 50 13963 764 ENST00000444143.2 0.037406 1 FAM102B 284611 __UNKNOWN__ __UNKNOWN__ 1 109103207 109103207 __UNKNOWN__ Intron SNP G G T rs72978732 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:109103207G>T ENST00000405454.1 + 1 477 FAM102B_ENST00000370035.3_Intron Q5T8I3 F102B_HUMAN family with sequence similarity 102, member B NA NA autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1) 5 all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508) Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182) CTCCCGCGCCGCCTCGCCCCT 0.622 NA T||| 1335 0.266573 0.5151 0.2089 5008 , , NA 11091 0.2569 NA 0.0676 False NA ,,, NA NA NA 2504 0.1861 NA NA NA NA 0 T 1891,2515 608.0+/-391.1 443,1005,755 29 30 30 0.1 0 1 dbSNP_130 30 549,8051 777.9+/-407.7 17,515,3768 no intron FAM102B NM_001010883.2 460,1520,4523 TT,TG,GG 6.3837,42.9187,18.7606 109103207 2440,10566 2203 4300 6503 SO:0001627 intron_variant CR749397 CCDS30786.2 1p13.3 2012-11-05 ENSG00000162636 ENSG00000162636 284611 27637 protein-coding gene gene with protein product sym-3 homolog B (C. elegans) NA Standard NM_001010883 NM_001010883 NA Approved DKFZp779B126, SYM-3B uc010ouy.2 Q5T8I3 OTTHUMG00000010967 ENST00000405454.1:c.137+20G>T chr1.hg19:g.109103207G>T NA A1L1A1|B0QZ46|B0QZ47|Q68DH7 hg19 0.02 6.27053 GCCxCCT COVERED NOVEL FAM102B-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000323368.1 0 14.146156 KEEP 0 0 0 47 1664 GG 1 1 0 + 8 60 284 0 0 17.76562 185 60 6761 260 ENST00000405454.1 0.041451 1 FAM102B 284611 __UNKNOWN__ __UNKNOWN__ 1 109154974 109154974 __UNKNOWN__ Intron SNP G G A rs2358522 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:109154974G>A ENST00000405454.1 + 4 745 FAM102B_ENST00000370035.3_Intron Q5T8I3 F102B_HUMAN family with sequence similarity 102, member B NA NA autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1) 5 all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508) Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182) TTAAATAAGCGTATGTATATA 0.333 NA A||| 926 0.184904 0.3064 0.2003 5008 , , NA 20205 0.1756 NA 0.0676 False NA ,,, NA NA NA 2504 0.1401 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CR749397 CCDS30786.2 1p13.3 2012-11-05 ENSG00000162636 ENSG00000162636 284611 27637 protein-coding gene gene with protein product sym-3 homolog B (C. elegans) NA Standard NM_001010883 NM_001010883 NA Approved DKFZp779B126, SYM-3B uc010ouy.2 Q5T8I3 OTTHUMG00000010967 ENST00000405454.1:c.405+58G>A chr1.hg19:g.109154974G>A NA A1L1A1|B0QZ46|B0QZ47|Q68DH7 hg19 0.02 1.977174 AGCxTAT COVERED NOVEL FAM102B-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000323368.1 0 3.00937 KEEP 0 0 0 10 333 GG 0.992708 0.99203 0 + 6 60 203 0 0 13.896815 75 60 2761 91 ENST00000405454.1 0.074074 0.999317 FAM102B 284611 __UNKNOWN__ __UNKNOWN__ 1 109173710 109173710 __UNKNOWN__ Intron SNP G G A rs17025410 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:109173710G>A ENST00000405454.1 + 10 1380 FAM102B_ENST00000370035.3_Intron Q5T8I3 F102B_HUMAN family with sequence similarity 102, member B NA NA autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1) 5 all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508) Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182) TGTGAAAAAGGATTTACAGAA 0.333 NA G||| 675 0.134784 0.1225 0.1888 5008 , , NA 20874 0.1756 NA 0.0676 False NA ,,, NA NA NA 2504 0.1401 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CR749397 CCDS30786.2 1p13.3 2012-11-05 ENSG00000162636 ENSG00000162636 284611 27637 protein-coding gene gene with protein product sym-3 homolog B (C. elegans) NA Standard NM_001010883 NM_001010883 NA Approved DKFZp779B126, SYM-3B uc010ouy.2 Q5T8I3 OTTHUMG00000010967 ENST00000405454.1:c.1040+1431G>A chr1.hg19:g.109173710G>A NA A1L1A1|B0QZ46|B0QZ47|Q68DH7 hg19 0.02 5.563531 AAGxATT COVERED NOVEL FAM102B-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000323368.1 3 8.426633 KEEP 0 0 0 28 967 GG 0.999997 0.999997 0 + 6 60 216 0 0 12.846362 188 60 6809 263 ENST00000405454.1 0.030928 1 FAM102B 284611 __UNKNOWN__ __UNKNOWN__ 1 109179771 109179771 __UNKNOWN__ Intron SNP T T C rs5006160 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:109179771T>C ENST00000405454.1 + 10 1380 FAM102B_ENST00000370035.3_3'UTR Q5T8I3 F102B_HUMAN family with sequence similarity 102, member B NA NA autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1) 5 all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508) Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182) ACAGAATTCTTTTTAAAAAGT 0.358 NA T||| 976 0.194888 0.3381 0.2046 5008 , , NA 13829 0.1756 NA 0.0726 False NA ,,, NA NA NA 2504 0.1401 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CR749397 CCDS30786.2 1p13.3 2012-11-05 ENSG00000162636 ENSG00000162636 284611 27637 protein-coding gene gene with protein product sym-3 homolog B (C. elegans) NA Standard NM_001010883 NM_001010883 NA Approved DKFZp779B126, SYM-3B uc010ouy.2 Q5T8I3 OTTHUMG00000010967 ENST00000405454.1:c.1040+7492T>C chr1.hg19:g.109179771T>C NA A1L1A1|B0QZ46|B0QZ47|Q68DH7 hg19 0.02 4.890496 TCTxTTT COVERED NOVEL FAM102B-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000323368.1 0 8.123979 KEEP 0 0 0 27 855 TT 0.999988 0.999988 0 + 8 60 313 0 0 21.934503 127 60 4565 191 ENST00000405454.1 0.059259 1 FAM102B 284611 __UNKNOWN__ __UNKNOWN__ 1 109180038 109180038 __UNKNOWN__ Intron SNP A A T rs2358529 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:109180038A>T ENST00000405454.1 + 11 1380 FAM102B_ENST00000370035.3_3'UTR Q5T8I3 F102B_HUMAN family with sequence similarity 102, member B NA NA autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1) 5 all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508) Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182) GGGTTGCCTAAGTGTCTGCCT 0.358 NA A||| 976 0.194888 0.3381 0.2046 5008 , , NA 12697 0.1756 NA 0.0726 False NA ,,, NA NA NA 2504 0.1401 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CR749397 CCDS30786.2 1p13.3 2012-11-05 ENSG00000162636 ENSG00000162636 284611 27637 protein-coding gene gene with protein product sym-3 homolog B (C. elegans) NA Standard NM_001010883 NM_001010883 NA Approved DKFZp779B126, SYM-3B uc010ouy.2 Q5T8I3 OTTHUMG00000010967 ENST00000405454.1:c.1041-7280A>T chr1.hg19:g.109180038A>T NA A1L1A1|B0QZ46|B0QZ47|Q68DH7 hg19 0.02 6.530744 CTAxGTG COVERED NOVEL FAM102B-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000323368.1 0 7.522984 KEEP 0 0 0 25 795 AA 0.999931 0.999931 0 + 6 60 215 0 0 13.396749 146 60 5463 216 ENST00000405454.1 0.039474 1 FAM102B 284611 __UNKNOWN__ __UNKNOWN__ 1 109181304 109181304 __UNKNOWN__ Intron SNP C C G rs1055970 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:109181304C>G ENST00000405454.1 + 11 1380 FAM102B_ENST00000370035.3_3'UTR Q5T8I3 F102B_HUMAN family with sequence similarity 102, member B NA NA autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1) 5 all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508) Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182) TGTTATGCCACTACTCATGTT 0.343 NA C||| 693 0.138379 0.1309 0.1931 5008 , , NA 18372 0.1756 NA 0.0716 False NA ,,, NA NA NA 2504 0.1401 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CR749397 CCDS30786.2 1p13.3 2012-11-05 ENSG00000162636 ENSG00000162636 284611 27637 protein-coding gene gene with protein product sym-3 homolog B (C. elegans) NA Standard NM_001010883 NM_001010883 NA Approved DKFZp779B126, SYM-3B uc010ouy.2 Q5T8I3 OTTHUMG00000010967 ENST00000405454.1:c.1041-6014C>G chr1.hg19:g.109181304C>G NA A1L1A1|B0QZ46|B0QZ47|Q68DH7 hg19 0.02 12.219062 CCAxTAC COVERED NOVEL FAM102B-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000323368.1 0 9.330485 KEEP 0 0 0 31 1131 CC 0.999997 0.999997 0 + 15 60 582 0 0 39.794344 272 70 10356 380 ENST00000405454.1 0.052265 1 FNDC7 163479 __UNKNOWN__ __UNKNOWN__ 1 109256135 109256135 __UNKNOWN__ Silent SNP T T C rs11102279 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:109256135T>C ENST00000370017.3 + 2 343 c.66T>C c.(64-66)gtT>gtC p.V22V FNDC7_ENST00000271311.2_Silent_p.V23V NM_001144937.1 NP_001138409.1 Q5VTL7 FNDC7_HUMAN fibronectin type III domain containing 7 22 NA extracellular region (GO:0005576) breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1) 20 all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728) Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244) CTTTTCAGGTTGCTTCAGCAA 0.328 NA T||| 385 0.076877 0.0015 0.085 5008 , , NA 18496 0.3105 NA 0.005 False NA ,,, NA NA NA 2504 0.0061 NA NA NA NA 0 T 4,1380 0,4,688 285 218 238 66 2.2 1 1 dbSNP_120 238 10,3172 0,10,1581 no coding-synonymous FNDC7 NM_001144937.1 0,14,2269 CC,CT,TT 0.3143,0.289,0.3066 22/734 109256135 14,4552 692 1591 2283 SO:0001819 synonymous_variant CCDS44185.1 1p13.3 2013-02-11 ENSG00000143107 ENSG00000143107 163479 Fibronectin type III domain containing 26668 protein-coding gene gene with protein product NA 12477932 Standard NM_173532 NM_001144937 NA Approved FLJ35838 uc001dvx.3 Q5VTL7 OTTHUMG00000011120 ENST00000370017.3:c.66T>C chr1.hg19:g.109256135T>C NA A1L468|E9PAZ5|Q6PF16|Q8NA51 hg19 CCDS44185.1 0.02 2.19776 GGTxGCT COVERED NOVEL FNDC7-001 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000030589.4 1 4.51239 KEEP 0 0 0 15 453 TT 0.99649 0.996326 0 + 5 60 174 0 0 11.406308 85 60 3148 129 ENST00000370017.3 0.055556 0.999835 FNDC7 163479 __UNKNOWN__ __UNKNOWN__ 1 109273456 109273456 __UNKNOWN__ Silent SNP A A G rs4970809 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:109273456A>G ENST00000370017.3 + 9 2062 c.1785A>G c.(1783-1785)ggA>ggG p.G595G FNDC7_ENST00000271311.2_Silent_p.G596G NM_001144937.1 NP_001138409.1 Q5VTL7 FNDC7_HUMAN fibronectin type III domain containing 7 595 Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}. NA extracellular region (GO:0005576) breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1) 20 all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728) Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244) GCCTCCTAGGATGCATCACAT 0.463 NA A||| 2255 0.45028 0.5628 0.4352 5008 , , NA 19950 0.2014 NA 0.5388 False NA ,,, NA NA NA 2504 0.4744 NA NA NA NA 0 A 2475,1931 624.6+/-394.4 690,1095,418 160 127 138 1785 2.4 1 1 dbSNP_111 138 4686,3914 606.1+/-395.1 1286,2114,900 no coding-synonymous FNDC7 NM_001144937.1 1976,3209,1318 GG,GA,AA 45.5116,43.8266,44.9408 595/734 109273456 7161,5845 2203 4300 6503 SO:0001819 synonymous_variant CCDS44185.1 1p13.3 2013-02-11 ENSG00000143107 ENSG00000143107 163479 Fibronectin type III domain containing 26668 protein-coding gene gene with protein product NA 12477932 Standard NM_173532 NM_001144937 NA Approved FLJ35838 uc001dvx.3 Q5VTL7 OTTHUMG00000011120 ENST00000370017.3:c.1785A>G chr1.hg19:g.109273456A>G NA A1L468|E9PAZ5|Q6PF16|Q8NA51 hg19 CCDS44185.1 0.02 12.228074 AGGxTGC COVERED 993 0.45467032967032966 286 0.5813008130081301 182 0.5027624309392266 117 0.20454545454545456 408 0.5382585751978892 A 10.24 1.295624 0.23564 0.561734 0.544884 ENSG00000143107 ENST00000445274 . . . 6.05 2.38 0.29361 . . . . . T 0.20251 0.0487 . . . 0.09310 P 1.0 . . . . . . T 0.11155 -1.0599 3 . . . -13.482 4.9624 0.14072 0.6976:0.1224:0.0632:0.1168 rs4970809;rs17554220;rs57923010 . . . V 371 . . M + 1 0 FNDC7 109074979 1.000000 0.71417 0.998000 0.56505 0.988000 0.76386 0.884000 0.28214 0.146000 0.19002 0.533000 0.62120 ATG NOVEL FNDC7-001 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000030589.4 1 6.489197 KEEP 0 2 67 45 1435 AA 1 1 0 + 10 60 362 0 0 21.853094 296 60 10864 428 ENST00000370017.3 0.03268 1 CLCC1 23155 __UNKNOWN__ __UNKNOWN__ 1 109505939 109505939 __UNKNOWN__ Intron SNP C C A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:109505939C>A ENST00000369971.2 - 1 129 CLCC1_ENST00000369976.1_Intron|CLCC1_ENST00000356970.2_Intron|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000415331.1_Intron NM_001048210.1 NP_001041675.1 Q96S66 CLCC1_HUMAN chloride channel CLIC-like 1 NA NA chloride channel complex (GO:0034707)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634) chloride channel activity (GO:0005254) autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1) 14 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626) Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231) CGGCGGGTAACCCGCCCCACC 0.736 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB018304 CCDS793.1, CCDS41362.1, CCDS60214.1, CCDS60215.1 1p13.3 2008-02-05 ENSG00000121940 ENSG00000121940 23155 29675 protein-coding gene gene with protein product Mid1-related chloride channel (yeast) NA 9872452, 11279057 Standard NM_015127 NM_001048210 NA Approved MCLC uc001dwf.2 Q96S66 OTTHUMG00000011732 ENST00000369971.2:c.0+43G>T chr1.hg19:g.109505939C>A NA O94861|Q8WYP8|Q8WYP9|Q9BU25 hg19 CCDS41362.1 0.02 0.940165 TAAxCCG COVERED NOVEL CLCC1-203 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000032405.1 1 6.773765 KEEP 0 3 23 32 790 CC 0.999999 0.993701 0 - 10 60 141 0 0 7.588412 48 60 1317 183 ENST00000369971.2 0.172414 0.993703 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 109646058 109646058 __UNKNOWN__ IGR SNP T T C rs79474994 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:109646058T>C NA NA SCARNA2 (2824 upstream) : C1orf194 (2514 downstream) NA NA NA CTATTCTAGCTGCGCTCCGTA 0.468 NA T||| 759 0.151558 0.0628 0.2378 5008 , , NA 14783 0.3948 NA 0.0338 False NA ,,, NA NA NA 2504 0.0808 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.109646058T>C NA hg19 0.02 3.470416 AGCxGCG COVERED NOVEL 0 2 7.22116 KEEP 0 0 0 24 732 TT 0.999909 0.999906 0 6 60 191 0 0 11.743654 109 60 4014 159 0.052174 0.999997 KIAA1324 57535 __UNKNOWN__ __UNKNOWN__ 1 109656981 109656981 __UNKNOWN__ Intron SNP T T C rs586530 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:109656981T>C ENST00000369939.3 + 1 336 KIAA1324_ENST00000529753.1_Intron NM_020775.4 NP_065826 Q6UXG2 K1324_HUMAN KIAA1324 NA NA cellular response to starvation (GO:0009267)|macroautophagy (GO:0016236)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of autophagic vacuole assembly (GO:2000786)|positive regulation of vacuole organization (GO:0044090) endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764) poly(A) RNA binding (GO:0044822) NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063) Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249) CCCTACCCGATCCCGCTTTGG 0.612 NA C||| 1966 0.392572 0.6672 0.3602 5008 , , NA 16870 0.4167 NA 0.2127 False NA ,,, NA NA NA 2504 0.2045 NA NA NA NA 0 C 2376,2018 661,1054,482 11 12 12 3.6 0 1 dbSNP_83 12 1444,7124 156,1132,2996 no intron KIAA1324 NM_020775.3 817,2186,3478 CC,CT,TT 16.8534,45.9263,29.4708 109656981 3820,9142 2197 4284 6481 SO:0001627 intron_variant AK057647 CCDS794.1, CCDS58015.1 1p13.3 2008-09-18 ENSG00000116299 ENSG00000116299 57535 29618 protein-coding gene gene with protein product estrogen induced gene 121 611298 NA 10718198, 16322283 Standard NM_020775 NM_020775 NA Approved maba1, EIG121 uc021orb.1 Q6UXG2 OTTHUMG00000011725 ENST00000369939.3:c.153+23T>C chr1.hg19:g.109656981T>C NA Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2 hg19 CCDS794.1 0.02 7.192998 CGAxCCC COVERED NOVEL KIAA1324-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000032389.2 1 11.97115 KEEP 0 2 69 64 1993 TT 1 1 0 + 6 60 221 0 0 13.586895 172 60 6103 315 ENST00000369939.3 0.033708 1 KIAA1324 57535 __UNKNOWN__ __UNKNOWN__ 1 109717869 109717869 __UNKNOWN__ Intron SNP T T C rs12080216|rs34556955 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:109717869T>C ENST00000369939.3 + 7 1135 KIAA1324_ENST00000529753.1_Intron NM_020775.4 NP_065826 Q6UXG2 K1324_HUMAN KIAA1324 NA NA cellular response to starvation (GO:0009267)|macroautophagy (GO:0016236)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of autophagic vacuole assembly (GO:2000786)|positive regulation of vacuole organization (GO:0044090) endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764) poly(A) RNA binding (GO:0044822) NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063) Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249) caagctggagtgctcgaatgc 0.468 NA t||| 2543 0.507788 0.6309 0.4337 5008 , , NA 10765 0.5149 NA 0.3897 False NA ,,, NA NA NA 2504 0.5082 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK057647 CCDS794.1, CCDS58015.1 1p13.3 2008-09-18 ENSG00000116299 ENSG00000116299 57535 29618 protein-coding gene gene with protein product estrogen induced gene 121 611298 NA 10718198, 16322283 Standard NM_020775 NM_020775 NA Approved maba1, EIG121 uc021orb.1 Q6UXG2 OTTHUMG00000011725 ENST00000369939.3:c.952+1410T>C chr1.hg19:g.109717869T>C NA Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2 hg19 CCDS794.1 0.02 -0.026318 GAGxGCT UNCOVERED NOVEL KIAA1324-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000032389.2 4 2.407374 KEEP 0 0 0 8 252 TT 0.99257 0 0 + 2 60 71 0 0 7.224883 1 60 32 14 ENST00000369939.3 0.666667 0 SARS 6301 __UNKNOWN__ __UNKNOWN__ 1 109771063 109771063 __UNKNOWN__ Intron SNP T T C rs683182 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:109771063T>C ENST00000234677.2 + 3 363 SARS_ENST00000369923.4_Intron NM_006513.3 NP_006504.2 P49591 SYSC_HUMAN seryl-tRNA synthetase NA NA gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739) ATP binding (GO:0005524)|RNA binding (GO:0003723)|serine-tRNA ligase activity (GO:0004828) central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 17 all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233) L-Serine(DB00133) CTGTAAGTTATAGTTCTTTTC 0.428 NA T||| 3405 0.679912 0.3911 0.8098 5008 , , NA 17823 0.8879 NA 0.7883 False NA ,,, NA NA NA 2504 0.6524 NA NA NA NA 0 T 2154,2252 581.8+/-385.5 548,1058,597 143 126 132 -6.9 0 1 dbSNP_83 132 6843,1757 735.6+/-407.0 2752,1339,209 no intron SARS NM_006513.3 3300,2397,806 CC,CT,TT 20.4302,48.8879,30.8242 109771063 8997,4009 2203 4300 6503 SO:0001627 intron_variant BC009390 CCDS795.1 1p13.3 2011-07-01 ENSG00000031698 ENSG00000031698 6301 6.1.1.11 Aminoacyl tRNA synthetases / Class II 10537 protein-coding gene gene with protein product serine tRNA ligase 1, cytoplasmic 607529 NA 9431993 Standard NM_006513 NM_006513 NA Approved SERS uc001dwu.2 P49591 OTTHUMG00000011726 ENST00000234677.2:c.288+9T>C chr1.hg19:g.109771063T>C NA B2R6Y9|Q5T5C8|Q9NSE3 hg19 CCDS795.1 0.02 11.814409 TTAxAGT COVERED NOVEL SARS-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000032394.2 0 14.211572 KEEP 0 2 74 73 2276 TT 1 1 0 + 14 60 544 0 0 36.536384 285 60 10294 469 ENST00000234677.2 0.046823 1 CELSR2 1952 __UNKNOWN__ __UNKNOWN__ 1 109806834 109806834 __UNKNOWN__ Silent SNP C C T rs6698843 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:109806834C>T ENST00000271332.3 + 10 5197 c.5136C>T c.(5134-5136)ccC>ccT p.P1712P NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 1712 Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}. NA cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055) cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930) NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) GCGGGGGGCCCGGCCATGCCA 0.657 NA OREG0013632 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) C||| 1770 0.353435 0.0764 0.4654 5008 , , NA 12448 0.498 NA 0.4751 False NA ,,, NA NA NA 2504 0.3742 NA NA NA NSCLC(158;1285 2011 34800 34852 42084) NA 0 C 587,3819 247.8+/-255.9 39,509,1655 33 48 43 5136 -9.9 0.7 1 dbSNP_116 43 4016,4584 536.2+/-383.0 938,2140,1222 no coding-synonymous CELSR2 NM_001408.2 977,2649,2877 TT,TC,CC 46.6977,13.3227,35.3914 1712/2924 109806834 4603,8403 2203 4300 6503 SO:0001819 synonymous_variant D87469 CCDS796.1 1p13.3 2014-08-08 2013-02-18 ENSG00000143126 ENSG00000143126 1952 Cadherins / Major cadherins, -, GPCR / Class B : Orphans 3231 protein-coding gene gene with protein product 604265 cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog EGFL2 NA 9693030, 10907856 Standard NM_001408 NM_001408 NA Approved KIAA0279, MEGF3, Flamingo1, CDHF10 uc001dxa.4 Q9HCU4 OTTHUMG00000012003 ENST00000271332.3:c.5136C>T chr1.hg19:g.109806834C>T 1422 Q5T2Y7|Q92566 hg19 CCDS796.1 0.02 8.277127 GCCxGGC COVERED NOVEL CELSR2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000033200.1 1 6.204076 KEEP 0 6 179 84 2567 CC 1 1 0 + 8 60 258 0 0 14.801741 215 60 6887 396 ENST00000271332.3 0.035874 1 CELSR2 1952 __UNKNOWN__ __UNKNOWN__ 1 109807099 109807099 __UNKNOWN__ Silent SNP G G A rs6689614 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:109807099G>A ENST00000271332.3 + 11 5374 c.5313G>A c.(5311-5313)ccG>ccA p.P1771P NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 1771 Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}. NA cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055) cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930) NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) GCGATACGCCGGAGGGGGTTA 0.652 NA A||| 1768 0.353035 0.0764 0.4654 5008 , , NA 14927 0.497 NA 0.4751 False NA ,,, NA NA NA 2504 0.3732 NA NA NA NSCLC(158;1285 2011 34800 34852 42084) NA 0 A 582,3824 772.6+/-413.9 35,512,1656 115 101 105 5313 -10 0 1 dbSNP_116 105 4005,4595 598.8+/-394.0 929,2147,1224 no coding-synonymous CELSR2 NM_001408.2 964,2659,2880 AA,AG,GG 46.5698,13.2093,35.2683 1771/2924 109807099 4587,8419 2203 4300 6503 SO:0001819 synonymous_variant D87469 CCDS796.1 1p13.3 2014-08-08 2013-02-18 ENSG00000143126 ENSG00000143126 1952 Cadherins / Major cadherins, -, GPCR / Class B : Orphans 3231 protein-coding gene gene with protein product 604265 cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog EGFL2 NA 9693030, 10907856 Standard NM_001408 NM_001408 NA Approved KIAA0279, MEGF3, Flamingo1, CDHF10 uc001dxa.4 Q9HCU4 OTTHUMG00000012003 ENST00000271332.3:c.5313G>A chr1.hg19:g.109807099G>A NA Q5T2Y7|Q92566 hg19 CCDS796.1 0.02 8.953 GCCxGAG COVERED NOVEL CELSR2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000033200.1 0 13.173656 KEEP 0 1 29 54 1804 GG 1 1 0 + 7 60 264 0 0 16.491124 198 60 6776 321 ENST00000271332.3 0.034146 1 CELSR2 1952 __UNKNOWN__ __UNKNOWN__ 1 109810544 109810544 __UNKNOWN__ Silent SNP C C A rs2281894 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:109810544C>A ENST00000271332.3 + 17 6241 c.6180C>A c.(6178-6180)cgC>cgA p.R2060R NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 2060 NA cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055) cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930) NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) TGCTCCTGCGCAACGCCACGC 0.677 NA C||| 1131 0.225839 0.0537 0.2205 5008 , , NA 18633 0.4206 NA 0.1928 False NA ,,, NA NA NA 2504 0.2955 NA NA NA NSCLC(158;1285 2011 34800 34852 42084) NA 0 C 313,4093 152.9+/-186.6 17,279,1907 29 29 29 6180 0.1 1 1 dbSNP_100 29 1603,6997 272.4+/-290.1 169,1265,2866 no coding-synonymous CELSR2 NM_001408.2 186,1544,4773 AA,AC,CC 18.6395,7.1039,14.7317 2060/2924 109810544 1916,11090 2203 4300 6503 SO:0001819 synonymous_variant D87469 CCDS796.1 1p13.3 2014-08-08 2013-02-18 ENSG00000143126 ENSG00000143126 1952 Cadherins / Major cadherins, -, GPCR / Class B : Orphans 3231 protein-coding gene gene with protein product 604265 cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog EGFL2 NA 9693030, 10907856 Standard NM_001408 NM_001408 NA Approved KIAA0279, MEGF3, Flamingo1, CDHF10 uc001dxa.4 Q9HCU4 OTTHUMG00000012003 ENST00000271332.3:c.6180C>A chr1.hg19:g.109810544C>A NA Q5T2Y7|Q92566 hg19 CCDS796.1 0.02 4.41054 GCGxAAC COVERED NOVEL CELSR2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000033200.1 0 12.640913 KEEP 0 0 0 42 1487 CC 1 0.999993 0 + 5 60 187 0 0 12.25487 105 60 3983 196 ENST00000271332.3 0.045455 0.999993 CELSR2 1952 __UNKNOWN__ __UNKNOWN__ 1 109817245 109817245 __UNKNOWN__ 3'UTR SNP C C T rs11102967 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:109817245C>T ENST00000271332.3 + 0 9407 CELSR2_ENST00000498157.1_3'UTR NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 NA NA cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055) cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930) NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) AAAGGGTGTGCCTCGTCCTGC 0.637 NA C||| 3049 0.608826 0.177 0.6816 5008 , , NA 15096 0.9534 NA 0.665 False NA ,,, NA NA NA 2504 0.728 NA NA NA NSCLC(158;1285 2011 34800 34852 42084) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D87469 CCDS796.1 1p13.3 2014-08-08 2013-02-18 ENSG00000143126 ENSG00000143126 1952 Cadherins / Major cadherins, -, GPCR / Class B : Orphans 3231 protein-coding gene gene with protein product 604265 cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog EGFL2 NA 9693030, 10907856 Standard NM_001408 NM_001408 NA Approved KIAA0279, MEGF3, Flamingo1, CDHF10 uc001dxa.4 Q9HCU4 OTTHUMG00000012003 ENST00000271332.3:c.*574C>T chr1.hg19:g.109817245C>T NA Q5T2Y7|Q92566 hg19 CCDS796.1 0.02 9.914068 GTGxCTC COVERED NOVEL CELSR2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000033200.1 0 12.487458 KEEP 0 2 58 62 2127 CC 1 1 0 + 16 60 555 0 0 36.598605 261 60 9428 390 ENST00000271332.3 0.057762 1 CELSR2 1952 __UNKNOWN__ __UNKNOWN__ 1 109817838 109817838 __UNKNOWN__ 3'UTR SNP T T C rs660240 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:109817838T>C ENST00000271332.3 + 0 10000 CELSR2_ENST00000498157.1_3'UTR NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 NA NA cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055) cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930) NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) TTGCTTTTTGTGTTGGGATGG 0.527 NA T||| 3852 0.769169 0.6127 0.7896 5008 , , NA 18006 0.9563 NA 0.8012 False NA ,,, NA NA NA 2504 0.7403 NA NA NA NSCLC(158;1285 2011 34800 34852 42084) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D87469 CCDS796.1 1p13.3 2014-08-08 2013-02-18 ENSG00000143126 ENSG00000143126 1952 Cadherins / Major cadherins, -, GPCR / Class B : Orphans 3231 protein-coding gene gene with protein product 604265 cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog EGFL2 NA 9693030, 10907856 Standard NM_001408 NM_001408 NA Approved KIAA0279, MEGF3, Flamingo1, CDHF10 uc001dxa.4 Q9HCU4 OTTHUMG00000012003 ENST00000271332.3:c.*1167T>C chr1.hg19:g.109817838T>C NA Q5T2Y7|Q92566 hg19 CCDS796.1 0.02 8.210643 TTGxGTT COVERED NOVEL CELSR2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000033200.1 0 10.894795 KEEP 0 2 62 58 1714 TT 1 1 0 + 13 60 449 0 0 29.940037 197 60 6779 302 ENST00000271332.3 0.061905 1 CELSR2 1952 __UNKNOWN__ __UNKNOWN__ 1 109818306 109818306 __UNKNOWN__ 3'UTR SNP G G T rs629301 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:109818306G>T ENST00000271332.3 + 0 10468 NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 NA NA cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055) cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930) NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) GCTGTAAATAGGGTAGCGTTT 0.388 NA T||| 3811 0.760982 0.6014 0.7781 5008 , , NA 20708 0.9534 NA 0.7863 False NA ,,, NA NA NA 2504 0.7403 NA NA NA NSCLC(158;1285 2011 34800 34852 42084) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D87469 CCDS796.1 1p13.3 2014-08-08 2013-02-18 ENSG00000143126 ENSG00000143126 1952 Cadherins / Major cadherins, -, GPCR / Class B : Orphans 3231 protein-coding gene gene with protein product 604265 cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog EGFL2 NA 9693030, 10907856 Standard NM_001408 NM_001408 NA Approved KIAA0279, MEGF3, Flamingo1, CDHF10 uc001dxa.4 Q9HCU4 OTTHUMG00000012003 ENST00000271332.3:c.*1635G>T chr1.hg19:g.109818306G>T NA Q5T2Y7|Q92566 hg19 CCDS796.1 0.02 6.941564 ATAxGGT COVERED NOVEL CELSR2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000033200.1 0 10.268486 KEEP 0 1 34 46 1611 GG 1 1 0 + 11 60 408 0 0 28.592811 151 60 5610 245 ENST00000271332.3 0.067901 1 PSRC1 84722 __UNKNOWN__ __UNKNOWN__ 1 109825591 109825591 __UNKNOWN__ Intron SNP C C T rs12023150 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:109825591C>T ENST00000369909.2 - 1 106 PSRC1_ENST00000438534.2_Intron|PSRC1_ENST00000369907.3_Intron|PSRC1_ENST00000409267.1_Intron|PSRC1_ENST00000409138.2_Intron|PSRC1_ENST00000369904.3_Intron|PSRC1_ENST00000369903.2_Intron NM_001032291.2|NM_032636.7 NP_001027462.1|NP_116025.1 Q6PGN9 PSRC1_HUMAN proline/serine-rich coiled-coil 1 NA NA microtubule bundle formation (GO:0001578)|mitotic metaphase plate congression (GO:0007080)|negative regulation of cell growth (GO:0030308)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mitotic spindle organization (GO:0060236) cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819) microtubule binding (GO:0008017) endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|skin(1) 7 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213) TGGGGGCGGCCTGCACGCCCC 0.657 NA C||| 1419 0.283347 0.0696 0.3242 5008 , , NA 11274 0.4395 NA 0.2893 False NA ,,, NA NA NA 2504 0.3763 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS797.1, CCDS30791.1 1p13.3 2008-02-05 ENSG00000134222 ENSG00000134222 84722 24472 protein-coding gene gene with protein product differential display and activated by p53 613126 NA 12427559, 10618717 Standard NM_032636 NM_001032291 NA Approved DDA3 uc001dxd.3 Q6PGN9 OTTHUMG00000012000 ENST00000369909.2:c.37+93G>A chr1.hg19:g.109825591C>T NA Q5T2Z3|Q6ZTI8|Q71MG3|Q9BV77 hg19 CCDS797.1 0.02 9.145038 GGCxTGC COVERED NOVEL PSRC1-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000335570.1 3 35.773692 KEEP 0 1 25 128 4418 CC 1 1 0 - 8 60 306 0 0 19.190413 232 60 8437 492 ENST00000369909.2 0.033333 1 AMIGO1 57463 __UNKNOWN__ __UNKNOWN__ 1 110048436 110048436 __UNKNOWN__ 3'UTR SNP C C A rs3738772 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:110048436C>A ENST00000369864.4 - 0 3448 adhesion molecule with Ig-like domain 1 NA NA autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227) GAGAAGAGACCCTAAGAAAAA 0.468 NA A||| 1411 0.281749 0.3434 0.1787 5008 , , NA 19843 0.2937 NA 0.2803 False NA ,,, NA NA NA 2504 0.2607 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS30795.1 1p13.3 2013-01-11 ENSG00000181754 ENSG00000181754 57463 Immunoglobulin superfamily / V-set domain containing 20824 protein-coding gene gene with protein product amphoterin-induced gene and open reading frame 615689 NA 12629050 Standard NM_020703 NM_020703 NA Approved AMIGO, KIAA1163 uc001dxx.4 Q86WK6 OTTHUMG00000011653 ENST00000369864.4:c.*1617G>T chr1.hg19:g.110048436C>A NA hg19 CCDS30795.1 0.02 5.854919 GACxCTA COVERED NOVEL AMIGO1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000032247.1 0 16.250216 KEEP 0 0 0 54 1862 CC 1 1 0 - 6 60 215 0 0 12.735495 189 60 6841 299 ENST00000369864.4 0.030769 1 GPR61 83873 __UNKNOWN__ __UNKNOWN__ 1 110086451 110086451 __UNKNOWN__ Silent SNP G G A rs17575798 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:110086451G>A ENST00000527748.1 + 2 1490 c.807G>A c.(805-807)tcG>tcA p.S269S RP5-1160K1.8_ENST00000526411.1_RNA NM_031936.4 NP_114142.3 Q9BZJ8 GPR61_HUMAN G protein-coupled receptor 61 269 NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) G-protein coupled receptor activity (GO:0004930) breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1) 23 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228) TCACCAGCTCGGGGGCCCCCC 0.672 NA G||| 1086 0.216853 0.1142 0.1441 5008 , , NA 15644 0.3621 NA 0.171 False NA ,,, NA NA NA 2504 0.3047 NA NA NA NA 0 G 519,3885 22,475,1705 36 43 41 807 -5.2 0.9 1 dbSNP_123 41 1694,6906 187,1320,2793 no coding-synonymous GPR61 NM_031936.4 209,1795,4498 AA,AG,GG 19.6977,11.7847,17.0178 269/452 110086451 2213,10791 2202 4300 6502 SO:0001819 synonymous_variant AF317652 CCDS801.1 1p13.3 2012-08-21 ENSG00000156097 ENSG00000156097 83873 GPCR / Class A : Orphans 13300 protein-coding gene gene with protein product 606916 NA 11165367, 11690637 Standard NM_031936 NA Approved BALGR uc001dxy.2 Q9BZJ8 OTTHUMG00000011633 ENST00000527748.1:c.807G>A chr1.hg19:g.110086451G>A NA A8K1W2|Q6NWS0|Q8TDV4|Q96PR4 hg19 CCDS801.1 0.02 13.73598 CTCxGGG COVERED NOVEL GPR61-005 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000385575.1 1 37.016592 KEEP 0 0 0 123 4205 GG 1 1 0 + 19 60 690 1 0 46.342587 318 60 11086 532 ENST00000527748.1 0.05638 1 GPR61 83873 __UNKNOWN__ __UNKNOWN__ 1 110087405 110087405 __UNKNOWN__ 3'UTR SNP T T C rs12045311 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:110087405T>C ENST00000527748.1 + 0 2444 NM_031936.4 NP_114142.3 Q9BZJ8 GPR61_HUMAN G protein-coupled receptor 61 NA NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) G-protein coupled receptor activity (GO:0004930) breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1) 23 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228) TTTTTCAGTGTAATTGTCCAG 0.408 NA T||| 1100 0.219649 0.1142 0.1441 5008 , , NA 19838 0.3681 NA 0.171 False NA ,,, NA NA NA 2504 0.3129 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF317652 CCDS801.1 1p13.3 2012-08-21 ENSG00000156097 ENSG00000156097 83873 GPCR / Class A : Orphans 13300 protein-coding gene gene with protein product 606916 NA 11165367, 11690637 Standard NM_031936 NA Approved BALGR uc001dxy.2 Q9BZJ8 OTTHUMG00000011633 ENST00000527748.1:c.*405T>C chr1.hg19:g.110087405T>C NA A8K1W2|Q6NWS0|Q8TDV4|Q96PR4 hg19 CCDS801.1 0.02 7.192031 GTGxAAT COVERED NOVEL GPR61-005 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000385575.1 2 12.33382 KEEP 0 0 0 41 1234 TT 1 1 0 + 15 60 527 0 0 37.499394 164 60 5768 265 ENST00000527748.1 0.083799 1 GNAI3 2773 __UNKNOWN__ __UNKNOWN__ 1 110104189 110104189 __UNKNOWN__ Intron SNP A A C rs12046010 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:110104189A>C ENST00000369851.4 + 2 228 NM_006496.3 NP_006487.1 P08754 GNAI3_HUMAN guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3 NA NA adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|negative regulation of adenylate cyclase activity (GO:0007194)|platelet activation (GO:0030168)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle fusion (GO:0006906) centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|midbody (GO:0030496)|plasma membrane (GO:0005886)|zymogen granule (GO:0042588) G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871) NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 12 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237) TCATTGTTGCACTGTTCAGTG 0.368 NA A||| 1198 0.239217 0.1694 0.1556 5008 , , NA 17309 0.3671 NA 0.1789 False NA ,,, NA NA NA 2504 0.3231 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M27543 CCDS802.1 1p13 2012-10-02 ENSG00000065135 ENSG00000065135 2773 4387 protein-coding gene gene with protein product 139370 NA 3109953 Standard NM_006496 NM_006496 NA Approved 87U6 uc001dxz.3 P08754 OTTHUMG00000011648 ENST00000369851.4:c.119-12170A>C chr1.hg19:g.110104189A>C NA P17539|Q5TZX1 hg19 CCDS802.1 0.02 -0.385865 TGCxCTG COVERED NOVEL GNAI3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000032222.1 0 4.512557 KEEP 0 0 0 15 440 AA 0.99649 0.914948 0 + 4 60 140 0 0 10.089645 40 60 1368 64 ENST00000369851.4 0.090909 0.918171 GNAT2 2780 __UNKNOWN__ __UNKNOWN__ 1 110151395 110151395 __UNKNOWN__ Missense_Mutation SNP G G T rs3738766 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:110151395G>T ENST00000351050.3 - 4 505 c.319C>A c.(319-321)Ctc>Atc p.L107I NM_005272.3 NP_005263.1 P19087 GNAT2_HUMAN guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2 107 NA L -> I (in dbSNP:rs3738766). {ECO:0000269|PubMed:15712225}. QL -> HV (in Ref. 1). {ECO:0000305}. adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of light stimulus involved in visual perception (GO:0050908)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to light intensity (GO:0009642)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601) heterotrimeric G-protein complex (GO:0005834)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886) G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872) NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 14 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227) AGGTTGTTGAGCTGTCGCCCG 0.512 NA G||| 444 0.0886581 0.0015 0.0303 5008 , , NA 19678 0.244 NA 0.0348 False NA ,,, NA NA NA 2504 0.1431 NA NA NA NA 0 G ILE/LEU 21,4385 28.1+/-56.4 1,19,2183 101 81 88 319 4.5 1 1 dbSNP_107 88 202,8398 86.1+/-148.5 2,198,4100 yes missense GNAT2 NM_005272.3 5 3,217,6283 TT,TG,GG 2.3488,0.4766,1.7146 benign 107/355 110151395 223,12783 2203 4300 6503 SO:0001583 missense BC000233 CCDS803.1 1p13 2013-01-08 ENSG00000134183 ENSG00000134183 2780 4394 protein-coding gene gene with protein product 139340 NA 8406495 Standard NM_005272 NM_005272 NA Approved ACHM4 uc001dya.3 P19087 OTTHUMG00000011639 ENST00000351050.3:c.319C>A chr1.hg19:g.110151395G>T ENSP00000251337:p.Leu107Ile NA hg19 CCDS803.1 0.02 13.480671 TGAxCTG COVERED 181 0.08287545787545787 3 0.006097560975609756 7 0.019337016574585635 142 0.24825174825174826 29 0.03825857519788918 G 24.9 4.578586 0.86645 0.004766 0.023488 ENSG00000134183 ENST00000351050 D 0.90844 -2.74 4.49 4.49 0.54785 G protein alpha subunit, helical insertion (2); 0.000000 0.64402 D 0.000002 D 0.88746 0.6520 N 0.16478 0.41 0.09310 P 0.999999833591 D 0.67145 0.996 D 0.91635 0.999 D 0.87879 0.2676 9 0.29301 T 0.29 . 17.3331 0.87271 0.0:0.0:1.0:0.0 rs3738766;rs52813672;rs3738766 107 P19087 GNAT2_HUMAN I 107 ENSP00000251337:L107I ENSP00000251337:L107I L - 1 0 GNAT2 109952918 1.000000 0.71417 1.000000 0.80357 0.940000 0.58332 7.677000 0.84024 2.494000 0.84150 0.655000 0.94253 CTC NOVEL GNAT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000032181.1 2 12.34046 KEEP 0 0 0 41 1468 GG 1 1 0 - 25 60 889 0 0 63.032753 287 60 10788 390 ENST00000351050.3 0.080128 1 GNAT2 2780 __UNKNOWN__ __UNKNOWN__ 1 110153021 110153021 __UNKNOWN__ Intron SNP A A G rs3738765 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:110153021A>G ENST00000351050.3 - 2 348 NM_005272.3 NP_005263.1 P19087 GNAT2_HUMAN guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2 NA NA adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of light stimulus involved in visual perception (GO:0050908)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to light intensity (GO:0009642)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601) heterotrimeric G-protein complex (GO:0005834)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886) G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872) NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 14 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227) TTCACTTTGAATACCTCCACT 0.478 NA A||| 504 0.100639 0.0582 0.0317 5008 , , NA 20629 0.2341 NA 0.0338 False NA ,,, NA NA NA 2504 0.138 NA NA NA NA 0 A 58,1326 2,54,636 318 259 277 -3.4 0 1 dbSNP_107 277 76,3106 0,76,1515 no intron GNAT2 NM_005272.3 2,130,2151 GG,GA,AA 2.3884,4.1908,2.9347 110153021 134,4432 692 1591 2283 SO:0001627 intron_variant BC000233 CCDS803.1 1p13 2013-01-08 ENSG00000134183 ENSG00000134183 2780 4394 protein-coding gene gene with protein product 139340 NA 8406495 Standard NM_005272 NM_005272 NA Approved ACHM4 uc001dya.3 P19087 OTTHUMG00000011639 ENST00000351050.3:c.161+65T>C chr1.hg19:g.110153021A>G NA hg19 CCDS803.1 0.02 9.482865 TGAxTAC COVERED NOVEL GNAT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000032181.1 4 14.745204 KEEP 0 0 0 49 1567 AA 1 1 0 - 12 60 452 0 0 30.090125 235 60 8660 377 ENST00000351050.3 0.048583 1 AMPD2 271 __UNKNOWN__ __UNKNOWN__ 1 110162548 110162548 __UNKNOWN__ 5'UTR SNP C C T rs55646629 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:110162548C>T ENST00000528667.1 + 0 42 AMPD2_ENST00000526301.1_Intron|AMPD2_ENST00000342115.4_5'UTR NM_001257360.1 NP_001244289.1 Q01433 AMPD2_HUMAN adenosine monophosphate deaminase 2 NA NA cell death (GO:0008219)|cyclic purine nucleotide metabolic process (GO:0052652)|energy homeostasis (GO:0097009)|IMP biosynthetic process (GO:0006188)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829) AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872) breast(1)|large_intestine(3)|ovary(2)|skin(1) 7 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228) CGCGGGAGTCCGACCCTGAAT 0.667 NA C||| 1148 0.229233 0.3056 0.0778 5008 , , NA 13783 0.3026 NA 0.0825 False NA ,,, NA NA NA 2504 0.3088 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant S47833 CCDS804.1, CCDS805.1, CCDS30796.1, CCDS58016.1 1p13.3 2014-03-03 2010-02-10 ENSG00000116337 ENSG00000116337 271 3.5.4.6 469 protein-coding gene gene with protein product AMPD isoform L 102771 adenosine monophosphate deaminase 2 (isoform L) NA 1400401, 24482476 Standard NM_004037 NA Approved SPG63 uc009wfh.2 Q01433 OTTHUMG00000011649 ENST00000528667.1:c.-453C>T chr1.hg19:g.110162548C>T NA B4DK50|B4DZI5|E9PNG0|Q14856|Q14857|Q16686|Q16687|Q16688|Q16729|Q5T693|Q5T695|Q96IA1|Q9UDX8|Q9UDX9|Q9UMU4 hg19 CCDS805.1 0.02 11.075776 GTCxGAC COVERED NOVEL AMPD2-005 KNOWN alternative_5_UTR|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000032227.2 6 53.541467 KEEP 0 0 0 178 5971 CC 1 1 0 + 13 60 478 0 0 31.639654 245 60 8676 550 ENST00000528667.1 0.050388 1 AMPD2 271 __UNKNOWN__ __UNKNOWN__ 1 110162918 110162918 __UNKNOWN__ Intron SNP T T C rs28362580 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:110162918T>C ENST00000528667.1 + 1 394 AMPD2_ENST00000526301.1_Intron|AMPD2_ENST00000342115.4_Intron NM_001257360.1 NP_001244289.1 Q01433 AMPD2_HUMAN adenosine monophosphate deaminase 2 NA NA cell death (GO:0008219)|cyclic purine nucleotide metabolic process (GO:0052652)|energy homeostasis (GO:0097009)|IMP biosynthetic process (GO:0006188)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829) AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872) breast(1)|large_intestine(3)|ovary(2)|skin(1) 7 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228) TGTGTACGTGTGTTGGAGGGA 0.617 NA T||| 946 0.188898 0.1634 0.0605 5008 , , NA 18532 0.3036 NA 0.0815 False NA ,,, NA NA NA 2504 0.3067 NA NA NA NA 0 T 661,3745 283.1+/-276.9 41,579,1583 142 128 133 -3 0 1 dbSNP_125 133 535,8065 148.9+/-204.1 17,501,3782 no intron AMPD2 NM_139156.2 58,1080,5365 CC,CT,TT 6.2209,15.0023,9.1958 110162918 1196,11810 2203 4300 6503 SO:0001627 intron_variant S47833 CCDS804.1, CCDS805.1, CCDS30796.1, CCDS58016.1 1p13.3 2014-03-03 2010-02-10 ENSG00000116337 ENSG00000116337 271 3.5.4.6 469 protein-coding gene gene with protein product AMPD isoform L 102771 adenosine monophosphate deaminase 2 (isoform L) NA 1400401, 24482476 Standard NM_004037 NA Approved SPG63 uc009wfh.2 Q01433 OTTHUMG00000011649 ENST00000528667.1:c.-101+18T>C chr1.hg19:g.110162918T>C NA B4DK50|B4DZI5|E9PNG0|Q14856|Q14857|Q16686|Q16687|Q16688|Q16729|Q5T693|Q5T695|Q96IA1|Q9UDX8|Q9UDX9|Q9UMU4 hg19 CCDS805.1 0.02 11.686333 GTGxGTT COVERED NOVEL AMPD2-005 KNOWN alternative_5_UTR|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000032227.2 3 61.678266 KEEP 0 0 0 205 6313 TT 1 1 0 + 13 60 437 0 0 26.436368 300 60 10759 681 ENST00000528667.1 0.041534 1 AMPD2 271 __UNKNOWN__ __UNKNOWN__ 1 110163879 110163879 __UNKNOWN__ Missense_Mutation SNP G G A rs28362581 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:110163879G>A ENST00000256578.3 + 1 604 c.244G>A c.(244-246)Gca>Aca p.A82T AMPD2_ENST00000358729.4_Silent_p.L50L|AMPD2_ENST00000526301.1_Intron|AMPD2_ENST00000528667.1_Missense_Mutation_p.A82T|AMPD2_ENST00000342115.4_Intron NM_004037.7 NP_004028.3 Q01433 AMPD2_HUMAN adenosine monophosphate deaminase 2 82 NA cell death (GO:0008219)|cyclic purine nucleotide metabolic process (GO:0052652)|energy homeostasis (GO:0097009)|IMP biosynthetic process (GO:0006188)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829) AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872) breast(1)|large_intestine(3)|ovary(2)|skin(1) 7 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228) GGCCTCCACTGCAGCTCCAGG 0.632 NA G||| 1183 0.236222 0.3343 0.0793 5008 , , NA 10509 0.3095 NA 0.0785 False NA ,,, NA NA NA 2504 0.3016 NA NA NA NA 0 G THR/ALA, 1206,3192 161,884,1154 20 20 20 244, 4.2 0.9 1 dbSNP_125 20 473,8119 15,443,3838 yes missense,intron AMPD2 NM_004037.6,NM_139156.2 58, 176,1327,4992 AA,AG,GG 5.5051,27.4216,12.9253 benign, 82/880, 110163879 1679,11311 2199 4296 6495 SO:0001583 missense S47833 CCDS804.1, CCDS805.1, CCDS30796.1, CCDS58016.1 1p13.3 2014-03-03 2010-02-10 ENSG00000116337 ENSG00000116337 271 3.5.4.6 469 protein-coding gene gene with protein product AMPD isoform L 102771 adenosine monophosphate deaminase 2 (isoform L) NA 1400401, 24482476 Standard NM_004037 NA Approved SPG63 uc009wfh.2 Q01433 OTTHUMG00000011649 ENST00000256578.3:c.244G>A chr1.hg19:g.110163879G>A ENSP00000256578:p.Ala82Thr NA B4DK50|B4DZI5|E9PNG0|Q14856|Q14857|Q16686|Q16687|Q16688|Q16729|Q5T693|Q5T695|Q96IA1|Q9UDX8|Q9UDX9|Q9UMU4 hg19 CCDS805.1 0.02 6.367231 ACTxCAG COVERED 416|416 0.19047619047619047|0.19047619047619047 156|156 0.3170731707317073|0.3170731707317073 26|26 0.0718232044198895|0.0718232044198895 178|178 0.3111888111888112|0.3111888111888112 56|56 0.07387862796833773|0.07387862796833773 G|G 17.19|17.19 3.327602|3.327602 0.60743|0.60743 0.274216|0.274216 0.055051|0.055051 ENSG00000116337|ENSG00000116337 ENST00000528667;ENST00000256578|ENST00000369840 T;T|. 0.35421|. 1.31;1.31|. 5.12|5.12 4.17|4.17 0.49024|0.49024 .|. 2.013210|. 0.02748|. N|. 0.117151|. T|T 0.18425|0.18425 0.0442|0.0442 N|N 0.14661|0.14661 0.345|0.345 0.09310|0.09310 P|P 0.9999999999904656|0.9999999999904656 B|. 0.21688|. 0.059|. B|. 0.17098|. 0.017|. T|T 0.09840|0.09840 -1.0656|-1.0656 9|4 0.49607|. T|. 0.09|. 0.6293|0.6293 11.8627|11.8627 0.52476|0.52476 0.0:0.3398:0.6602:0.0|0.0:0.3398:0.6602:0.0 rs28362581;rs59964270|rs28362581;rs59964270 82|. Q01433|. AMPD2_HUMAN|. T|Y 82|52 ENSP00000436541:A82T;ENSP00000256578:A82T|. ENSP00000256578:A82T|. A|C +|+ 1|2 0|0 AMPD2|AMPD2 109965402|109965402 0.165000|0.165000 0.22948|0.22948 0.934000|0.934000 0.37439|0.37439 0.976000|0.976000 0.68499|0.68499 0.841000|0.841000 0.27613|0.27613 1.097000|1.097000 0.41459|0.41459 0.305000|0.305000 0.20034|0.20034 GCA|TGC NOVEL AMPD2-011 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000390615.1 2 35.515478 KEEP 0 0 0 118 4235 GG 1 1 0 + 11 60 380 0 0 25.226078 171 60 6407 402 ENST00000256578.3 0.06044 1 AMPD2 271 __UNKNOWN__ __UNKNOWN__ 1 110164963 110164963 __UNKNOWN__ Intron SNP C C T rs12028540 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:110164963C>T ENST00000256578.3 + 1 613 AMPD2_ENST00000358729.4_Intron|AMPD2_ENST00000526301.1_Intron|AMPD2_ENST00000528667.1_Intron|AMPD2_ENST00000342115.4_Intron NM_004037.7 NP_004028.3 Q01433 AMPD2_HUMAN adenosine monophosphate deaminase 2 NA NA cell death (GO:0008219)|cyclic purine nucleotide metabolic process (GO:0052652)|energy homeostasis (GO:0097009)|IMP biosynthetic process (GO:0006188)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829) AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872) breast(1)|large_intestine(3)|ovary(2)|skin(1) 7 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228) GGAGACCCTTCGGTGGTCAGA 0.592 NA C||| 1206 0.240815 0.348 0.0807 5008 , , NA 19036 0.3105 NA 0.0785 False NA ,,, NA NA NA 2504 0.3047 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant S47833 CCDS804.1, CCDS805.1, CCDS30796.1, CCDS58016.1 1p13.3 2014-03-03 2010-02-10 ENSG00000116337 ENSG00000116337 271 3.5.4.6 469 protein-coding gene gene with protein product AMPD isoform L 102771 adenosine monophosphate deaminase 2 (isoform L) NA 1400401, 24482476 Standard NM_004037 NA Approved SPG63 uc009wfh.2 Q01433 OTTHUMG00000011649 ENST00000256578.3:c.253+1075C>T chr1.hg19:g.110164963C>T NA B4DK50|B4DZI5|E9PNG0|Q14856|Q14857|Q16686|Q16687|Q16688|Q16729|Q5T693|Q5T695|Q96IA1|Q9UDX8|Q9UDX9|Q9UMU4 hg19 CCDS805.1 0.02 2.106945 CTTxGGT COVERED NOVEL AMPD2-011 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000390615.1 1 15.643779 KEEP 0 0 0 52 1745 CC 1 0.999804 0 + 4 60 151 0 0 9.924794 85 60 2961 190 ENST00000256578.3 0.044944 0.999804 GSTM4 2948 __UNKNOWN__ __UNKNOWN__ 1 110200360 110200360 __UNKNOWN__ Intron SNP T T C rs560018 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:110200360T>C ENST00000369836.4 + 5 568 GSTM4_ENST00000326729.5_Intron|GSTM4_ENST00000336075.5_Intron|GSTM4_ENST00000369833.1_Intron|GSTM4_ENST00000495742.1_Intron NM_000850.4 NP_000841.1 Q03013 GSTM4_HUMAN glutathione S-transferase mu 4 NA NA glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805) cytoplasm (GO:0005737)|cytosol (GO:0005829) enzyme binding (GO:0019899)|glutathione binding (GO:0043295)|glutathione transferase activity (GO:0004364)|protein homodimerization activity (GO:0042803) endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 12 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227) Glutathione(DB00143) TGGGGTGCTATGCTCAGAGTG 0.547 NA t||| 776 0.154952 0.0938 0.2262 5008 , , NA 20156 0.0466 NA 0.328 False NA ,,, NA NA NA 2504 0.1207 NA NA NA NA 0 T , 570,3836 254.0+/-259.7 35,500,1668 355 262 293 , -1.1 0 1 dbSNP_83 293 3148,5452 479.3+/-370.1 566,2016,1718 no intron,intron GSTM4 NM_000850.4,NM_147148.2 , 601,2516,3386 CC,CT,TT 36.6047,12.9369,28.5868 , , 110200360 3718,9288 2203 4300 6503 SO:0001627 intron_variant M96234 CCDS806.1, CCDS807.1 1p13.3 2012-06-22 2008-11-26 ENSG00000168765 ENSG00000168765 2948 2.5.1.18 Glutathione S-transferases / Soluble 4636 protein-coding gene gene with protein product 138333 glutathione S-transferase M4 NA 8276420 Standard NM_000850 NM_000850 NA Approved uc001dyf.3 Q03013 OTTHUMG00000011642 ENST00000369836.4:c.260-34T>C chr1.hg19:g.110200360T>C NA A8K765|Q05465|Q32NC1|Q4JNT8|Q6FH87 hg19 CCDS807.1 0.02 15.135036 CTAxGCT COVERED NOVEL GSTM4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000032187.1 1 30.388731 KEEP 0 0 0 101 3107 TT 1 1 0 + 11 60 402 0 0 23.90983 363 60 13191 512 ENST00000369836.4 0.029412 1 GSTM4 2948 __UNKNOWN__ __UNKNOWN__ 1 110208089 110208089 __UNKNOWN__ 3'UTR SNP A A T rs1051137 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:110208089A>T ENST00000326729.5 + 0 1292 NM_147148.2 NP_671489.1 Q03013 GSTM4_HUMAN glutathione S-transferase mu 4 NA NA glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805) cytoplasm (GO:0005737)|cytosol (GO:0005829) enzyme binding (GO:0019899)|glutathione binding (GO:0043295)|glutathione transferase activity (GO:0004364)|protein homodimerization activity (GO:0042803) endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 12 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227) Glutathione(DB00143) cagatagataaatttataaat 0.383 NA A||| 1402 0.279952 0.1293 0.2305 5008 , , NA 18261 0.3244 NA 0.3638 False NA ,,, NA NA NA 2504 0.3865 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M96234 CCDS806.1, CCDS807.1 1p13.3 2012-06-22 2008-11-26 ENSG00000168765 ENSG00000168765 2948 2.5.1.18 Glutathione S-transferases / Soluble 4636 protein-coding gene gene with protein product 138333 glutathione S-transferase M4 NA 8276420 Standard NM_000850 NM_000850 NA Approved uc001dyf.3 Q03013 OTTHUMG00000011642 ENST00000326729.5:c.*436A>T chr1.hg19:g.110208089A>T NA A8K765|Q05465|Q32NC1|Q4JNT8|Q6FH87 hg19 CCDS806.1 0.02 2.141749 ATAxATT COVERED NOVEL GSTM4-003 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000032189.1 0 9.924846 KEEP 0 0 0 33 956 AA 0.999998 0.99962 0 + 6 60 206 0 0 14.04944 79 60 2830 134 ENST00000326729.5 0.070588 0.999622 CSF1 1435 __UNKNOWN__ __UNKNOWN__ 1 110458234 110458234 __UNKNOWN__ Intron SNP G G A rs2275123 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:110458234G>A ENST00000329608.6 + 3 553 CSF1_ENST00000369801.1_Intron|CSF1_ENST00000369802.3_Intron|CSF1_ENST00000420111.2_Intron|CSF1_ENST00000344188.5_Intron NM_000757.5|NM_172211.3 NP_000748|NP_757350.1 P09603 CSF1_HUMAN colony stimulating factor 1 (macrophage) NA NA branching involved in mammary gland duct morphogenesis (GO:0060444)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|developmental process involved in reproduction (GO:0003006)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary duct terminal end bud growth (GO:0060763)|mammary gland fat development (GO:0060611)|monocyte activation (GO:0042117)|odontogenesis (GO:0042476)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|osteoclast proliferation (GO:0002158)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of odontogenesis of dentin-containing tooth (GO:0042488)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of macrophage derived foam cell differentiation (GO:0010743)|regulation of ossification (GO:0030278) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|macrophage colony-stimulating factor receptor binding (GO:0005157)|protein homodimerization activity (GO:0042803) breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 20 all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204) Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135) CCCTGCAATCGTTGGCCTGCT 0.478 NA G||| 960 0.191693 0.1694 0.1657 5008 , , NA 22591 0.376 NA 0.1292 False NA ,,, NA NA NA 2504 0.1145 NA NA NA NA 0 G ,,, 829,3577 330.2+/-301.4 76,677,1450 158 135 143 ,,, -2.8 0 1 dbSNP_100 143 1407,7193 271.9+/-289.8 102,1203,2995 no intron,intron,intron,intron CSF1 NM_000757.5,NM_172210.2,NM_172211.2,NM_172212.2 ,,, 178,1880,4445 AA,AG,GG 16.3605,18.8153,17.1921 ,,, ,,, 110458234 2236,10770 2203 4300 6503 SO:0001627 intron_variant BC021117 CCDS816.1, CCDS817.1, CCDS30797.1 1p13.3 2012-09-20 ENSG00000184371 ENSG00000184371 1435 2432 protein-coding gene gene with protein product 120420 NA 1540160 Standard NM_000757 NM_172210 NA Approved M-CSF, MCSF, MGC31930 uc001dyw.4 P09603 OTTHUMG00000011646 ENST00000329608.6:c.163-22G>A chr1.hg19:g.110458234G>A NA A8K6J5|Q13130|Q14086|Q14806|Q5VVF3|Q5VVF4|Q9UQR8 hg19 CCDS816.1 0.02 10.917201 ATCxTTG COVERED NOVEL CSF1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000032208.1 1 30.612657 KEEP 0 1 35 114 3876 GG 1 1 0 + 8 60 299 0 0 17.720586 291 60 9965 525 ENST00000329608.6 0.026756 1 KCNC4 3749 __UNKNOWN__ __UNKNOWN__ 1 110775195 110775195 __UNKNOWN__ Intron SNP C C T rs17025562 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:110775195C>T ENST00000413138.3 + 4 1827 KCNC4_ENST00000369787.3_3'UTR|KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000438661.2_Intron Q03721 KCNC4_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 4 NA NA potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268) axon terminus (GO:0043679)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076) delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249) central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2) 32 all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135) CTAGTGGTTCCTGGAGCTAGT 0.537 NA C||| 491 0.0980431 0.1604 0.0793 5008 , , NA 23329 0.1131 NA 0.0149 False NA ,,, NA NA NA 2504 0.0971 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC101769 CCDS821.1, CCDS44193.1 1p21 2012-07-05 ENSG00000116396 ENSG00000116396 3749 Potassium channels, Voltage-gated ion channels / Potassium channels 6236 protein-coding gene gene with protein product 176265 chromosome 1 open reading frame 30 C1orf30 NA 1920536, 1740329, 16382104 Standard NM_001039574 NM_004978 NA Approved Kv3.4, HKSHIIIC uc001dzh.3 Q03721 OTTHUMG00000011037 ENST00000413138.3:c.1820-276C>T chr1.hg19:g.110775195C>T NA Q3MIM4|Q5TBI6 hg19 0.02 10.589002 TTCxTGG COVERED NOVEL KCNC4-006 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000390341.1 5 20.766966 KEEP 0 0 0 69 2439 CC 1 1 0 + 11 60 397 0 0 25.026593 257 60 9548 413 ENST00000413138.3 0.041045 1 RBM15 64783 __UNKNOWN__ __UNKNOWN__ 1 110881432 110881432 __UNKNOWN__ 5'UTR SNP G G C rs2030013 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:110881432G>C ENST00000369784.3 + 0 305 RP5-1074L1.1_ENST00000449169.1_RNA NM_022768.4 NP_073605.4 Q96T37 RBM15_HUMAN RNA binding motif protein 15 NA NA negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032) membrane (GO:0016020)|nucleus (GO:0005634) nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822) ovary(3) 3 all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634) BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135) AAGTGACGTCGCACAGCAAGC 0.547 NA T MKL1 acute megakaryocytic leukemia G||| 1613 0.322085 0.2716 0.3646 5008 , , NA 17590 0.2639 NA 0.3976 False NA ,,, NA NA NA 2504 0.3425 NA NA NA Dom yes 1 1p13 64783 RNA binding motif protein 15 L 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF368063 CCDS822.1, CCDS59198.1 1p13 2013-02-12 ENSG00000162775 ENSG00000162775 64783 RNA binding motif (RRM) containing 14959 protein-coding gene gene with protein product one twenty-two 606077 NA 11431691, 11344311 Standard NM_022768 NM_001201545 NA Approved OTT, OTT1 uc001dzl.1 Q96T37 OTTHUMG00000011284 ENST00000369784.3:c.-596G>C chr1.hg19:g.110881432G>C NA A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0 hg19 CCDS822.1 0.02 9.559665 GTCxCAC COVERED NOVEL RBM15-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000031114.2 2 28.689555 KEEP 0 4 133 142 4745 GG 1 1 0 + 10 60 381 0 0 24.650114 240 60 8545 462 ENST00000369784.3 0.04 1 LAMTOR5 10542 __UNKNOWN__ __UNKNOWN__ 1 110949810 110949810 __UNKNOWN__ Intron SNP A A C rs35836705 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:110949810A>C ENST00000602318.1 - 1 123 LAMTOR5_ENST00000474861.2_5'UTR|LAMTOR5_ENST00000256644.4_Intron|LAMTOR5_ENST00000483260.1_Intron|LAMTOR5-AS1_ENST00000590413.1_RNA O43504 LTOR5_HUMAN late endosomal/lysosomal adaptor, MAPK and MTOR activator 5 NA NA cellular response to amino acid stimulus (GO:0071230)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of GTPase activity (GO:0043547)|positive regulation of TOR signaling (GO:0032008)|protein localization to lysosome (GO:0061462)|regulation of cell size (GO:0008361)|response to virus (GO:0009615)|viral genome replication (GO:0019079) cytosol (GO:0005829)|lysosome (GO:0005764)|Ragulator complex (GO:0071986) NA AGTAACTGATAGGTTACACAC 0.378 NA A||| 890 0.177716 0.149 0.1657 5008 , , NA 19734 0.2212 NA 0.165 False NA ,,, NA NA NA 2504 0.1933 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF029890 CCDS824.1 1p12 2012-09-24 2012-09-24 2012-09-24 ENSG00000134248 ENSG00000134248 10542 17955 protein-coding gene gene with protein product HBx-interacting protein, hepatitis B virus x-interacting protein (9.6kD) 608521 hepatitis B virus x interacting protein HBXIP NA 9499022, 22980980 Standard NM_006402 NM_006402 NA Approved XIP, MGC71071 uc001dzr.3 O43504 OTTHUMG00000011568 ENST00000602318.1:c.35+397T>G chr1.hg19:g.110949810A>C NA Q6IBD8 hg19 0.02 10.468421 GATxGGT COVERED NOVEL LAMTOR5-007 NOVEL basic|appris_principal protein_coding NA protein_coding OTTHUMT00000467909.1 0 20.153778 KEEP 0 0 0 67 1988 AA 1 1 0 - 9 60 324 0 0 19.732531 250 60 9125 338 ENST00000602318.1 0.034749 1 LAMTOR5 10542 __UNKNOWN__ __UNKNOWN__ 1 110949857 110949857 __UNKNOWN__ Intron SNP A A T rs6684395 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:110949857A>T ENST00000602318.1 - 1 123 LAMTOR5_ENST00000474861.2_5'UTR|LAMTOR5_ENST00000256644.4_Intron|LAMTOR5_ENST00000483260.1_Intron|LAMTOR5-AS1_ENST00000590413.1_RNA O43504 LTOR5_HUMAN late endosomal/lysosomal adaptor, MAPK and MTOR activator 5 NA NA cellular response to amino acid stimulus (GO:0071230)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of GTPase activity (GO:0043547)|positive regulation of TOR signaling (GO:0032008)|protein localization to lysosome (GO:0061462)|regulation of cell size (GO:0008361)|response to virus (GO:0009615)|viral genome replication (GO:0019079) cytosol (GO:0005829)|lysosome (GO:0005764)|Ragulator complex (GO:0071986) NA AGGGCTCGACACTGCACAACT 0.418 NA T||| 2891 0.577276 0.6445 0.6787 5008 , , NA 19449 0.5159 NA 0.5229 False NA ,,, NA NA NA 2504 0.5337 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF029890 CCDS824.1 1p12 2012-09-24 2012-09-24 2012-09-24 ENSG00000134248 ENSG00000134248 10542 17955 protein-coding gene gene with protein product HBx-interacting protein, hepatitis B virus x-interacting protein (9.6kD) 608521 hepatitis B virus x interacting protein HBXIP NA 9499022, 22980980 Standard NM_006402 NM_006402 NA Approved XIP, MGC71071 uc001dzr.3 O43504 OTTHUMG00000011568 ENST00000602318.1:c.35+350T>A chr1.hg19:g.110949857A>T NA Q6IBD8 hg19 0.02 9.147583 GACxCTG COVERED NOVEL LAMTOR5-007 NOVEL basic|appris_principal protein_coding NA protein_coding OTTHUMT00000467909.1 1 21.669744 KEEP 0 1 34 84 2571 AA 1 1 0 - 10 60 369 0 0 24.075342 207 60 7393 356 ENST00000602318.1 0.046083 1 LRIF1 55791 __UNKNOWN__ __UNKNOWN__ 1 111494194 111494194 __UNKNOWN__ Missense_Mutation SNP C C T rs2232041 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:111494194C>T ENST00000369763.4 - 2 1702 c.1312G>A c.(1312-1314)Gcc>Acc p.A438T LRIF1_ENST00000494675.1_Intron|RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000485275.2_Intron NM_018372.3 NP_060842.3 Q5T3J3 LRIF1_HUMAN ligand dependent nuclear receptor interacting factor 1 438 NA A -> T (in dbSNP:rs2232041). regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) actin cytoskeleton (GO:0015629)|nucleus (GO:0005634) endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2) 28 CTTAGATTGGCCATGGAAGCA 0.388 NA C||| 790 0.157748 0.1566 0.1081 5008 , , NA 19439 0.0635 NA 0.2714 False NA ,,, NA NA NA 2504 0.1748 NA NA NA NA 0 C ,THR/ALA 702,3704 294.1+/-283.0 56,590,1557 174 175 175 ,1312 1.2 1 1 dbSNP_98 175 2175,6425 372.5+/-336.7 265,1645,2390 yes intron,missense LRIF1 NM_001006945.1,NM_018372.3 ,58 321,2235,3947 TT,TC,CC 25.2907,15.9328,22.1206 ,benign ,438/770 111494194 2877,10129 2203 4300 6503 SO:0001583 missense AY190122 CCDS30800.1, CCDS41366.1 1p13.3 2011-04-15 2011-04-15 2011-04-15 ENSG00000121931 ENSG00000121931 55791 30299 protein-coding gene gene with protein product receptor interacting factor 1 615354 chromosome 1 open reading frame 103 C1orf103 NA 17455211 Standard NM_018372 NM_018372 NA Approved RIF1, FLJ11269 uc001eaa.3 Q5T3J3 OTTHUMG00000011913 ENST00000369763.4:c.1312G>A chr1.hg19:g.111494194C>T ENSP00000358778:p.Ala438Thr NA Q86XS4|Q8N3B6|Q96HT4|Q9NUM5|Q9NV32 hg19 CCDS30800.1 0.02 24.532062 TGGxCAT COVERED 346 0.15842490842490842 71 0.1443089430894309 47 0.1298342541436464 26 0.045454545454545456 202 0.26649076517150394 C 8.548 0.874802 0.17395 0.159328 0.252907 ENSG00000121931 ENST00000369763 T 0.31247 1.5 5.3 1.19 0.21007 . 1.156850 0.06178 N 0.678975 T 0.10121 0.0248 L 0.44542 1.39 0.09310 P 0.999999485431 B 0.17852 0.024 B 0.17098 0.017 T 0.32161 -0.9917 9 0.48119 T 0.1 5.2568 4.2771 0.10815 0.0:0.5311:0.1832:0.2857 rs2232041;rs17639529;rs52799901;rs60246657;rs2232041 438 Q5T3J3 LRIF1_HUMAN T 438 ENSP00000358778:A438T ENSP00000358778:A438T A - 1 0 LRIF1 111295717 0.000000 0.05858 0.997000 0.53966 0.997000 0.91878 -0.526000 0.06207 0.393000 0.25203 0.591000 0.81541 GCC NOVEL LRIF1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000032932.2 7 21.671205 KEEP 0 0 0 72 2585 CC 1 1 0 - 20 60 725 0 0 43.550865 610 60 22538 835 ENST00000369763.4 0.031746 1 CHIAP2 149620 __UNKNOWN__ __UNKNOWN__ 1 111825883 111825883 __UNKNOWN__ RNA SNP T T C rs4406629 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:111825883T>C ENST00000369743.4 + 0 1272 NR_003928.1 chitinase, acidic pseudogene 2 NA NA NA ATCAGAATGATTTTAAATCCT 0.517 NA T||| 2203 0.439896 0.1573 0.6282 5008 , , NA 20487 0.6954 NA 0.4563 False NA ,,, NA NA NA 2504 0.408 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA 1p13.2 2012-10-11 ENSG00000203878 ENSG00000203878 149620 44463 pseudogene pseudogene NA Standard NR_003928 NA Approved uc009wgb.3 OTTHUMG00000012173 ENST00000369743.4: chr1.hg19:g.111825883T>C NA hg19 0.02 9.569374 TGAxTTT COVERED NOVEL CHIAP2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000033667.3 0 6.619324 KEEP 0 0 0 22 687 TT 0.999879 0.999879 0 + 11 60 412 0 0 27.881873 192 60 7063 272 ENST00000369743.4 0.054187 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 111833441 111833441 __UNKNOWN__ IGR SNP G G A rs11102235 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:111833441G>A NA NA CHIAP2 (4711 upstream) : CHIA (42 downstream) NA NA NA caaacaactcgttacaaaaac 0.478 NA g||| 2331 0.465455 0.2209 0.6282 5008 , , NA 18264 0.7411 NA 0.4592 False NA ,,, NA NA NA 2504 0.4029 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.111833441G>A NA hg19 0.02 6.652185 CTCxTTA COVERED NOVEL 0 1 5.25123 KEEP 0 1 30 28 974 GG 0.999997 0.999997 0 13 60 490 0 0 34.464821 182 60 6288 277 0.066667 1 CHIA 27159 __UNKNOWN__ __UNKNOWN__ 1 111833517 111833517 __UNKNOWN__ 5'UTR SNP G G A rs12026825 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:111833517G>A ENST00000483391.1 + 0 34 NM_001040623.2|NM_001258002.1 NP_001035713.1|NP_001244931.1 Q9BZP6 CHIA_HUMAN chitinase, acidic NA NA apoptotic process (GO:0006915)|cell wall chitin metabolic process (GO:0006037)|chitin catabolic process (GO:0006032)|chitin metabolic process (GO:0006030)|digestion (GO:0007586)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|positive regulation of chemokine secretion (GO:0090197)|production of molecular mediator involved in inflammatory response (GO:0002532)|response to fungus (GO:0009620) cytoplasm (GO:0005737)|extracellular space (GO:0005615) carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|chitinase activity (GO:0004568)|kinase binding (GO:0019900)|lysozyme activity (GO:0003796) central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 23 all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304) Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154) acaggtggccgactctggagc 0.493 NA G||| 2331 0.465455 0.2209 0.6282 5008 , , NA 18121 0.7411 NA 0.4592 False NA ,,, NA NA NA 2504 0.4029 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF290004 CCDS832.1, CCDS41368.1, CCDS58017.1 1p13.2 2008-05-14 ENSG00000134216 ENSG00000134216 27159 17432 protein-coding gene gene with protein product 606080 NA 11085997 Standard NM_021797 NA Approved AMCase, TSA1902, CHIT2 uc001eas.4 Q9BZP6 OTTHUMG00000011165 ENST00000483391.1:c.-116G>A chr1.hg19:g.111833517G>A NA Q32W79|Q32W80|Q3B866|Q5U5Z5|Q5VUV4|Q86UD8|Q9ULY3|Q9ULY4 hg19 CCDS58017.1 0.02 6.26957 GCCxACT COVERED 1064 0.48717948717948717 106 0.21544715447154472 217 0.5994475138121547 395 0.6905594405594405 346 0.45646437994722955 - 1.512 -0.549224 0.04024 . . ENSG00000134216 ENST00000422815 T 0.02682 4.2 0.185 0.185 0.15096 . . . . . T 0.01558 0.0050 . . . 0.80722 P 0.0 . . . . . . T 0.49418 -0.8942 4 0.44086 T 0.13 . . . . rs12026825;rs12751497;rs12026825 . . . N 12 ENSP00000387671:D12N ENSP00000387671:D12N D + 1 0 CHIA 111635040 0.034000 0.19679 0.034000 0.17996 0.035000 0.12851 0.355000 0.20163 0.293000 0.22520 0.298000 0.19748 GAC NOVEL CHIA-006 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000030715.2 0 7.523622 KEEP 0 0 0 25 845 GG 0.999931 0.999931 0 + 8 60 277 0 0 17.753864 151 60 5588 237 ENST00000483391.1 0.050314 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 111866640 111866640 __UNKNOWN__ IGR SNP C C A rs6690266 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:111866640C>A NA NA RP5-1125M8.2 (37 upstream) : PIFO (22269 downstream) NA NA NA CATGTTATGCCCCGACTGTGC 0.423 NA C||| 1470 0.29353 0.0923 0.1902 5008 , , NA 21377 0.378 NA 0.4016 False NA ,,, NA NA NA 2504 0.4407 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.111866640C>A NA hg19 0.02 6.319949 TGCxCCG COVERED NOVEL 0 1 4.808254 KEEP 0 0 0 16 553 CC 0.997832 0.997832 0 7 60 242 0 0 14.781998 169 60 6040 226 0.039773 1 PIFO 128344 __UNKNOWN__ __UNKNOWN__ 1 111894451 111894451 __UNKNOWN__ 3'UTR SNP T T G rs189143602 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:111894451T>G ENST00000369738.4 + 0 1443 PIFO_ENST00000484512.1_3'UTR NM_181643.4 NP_857594.2 Q8TCI5 PIFO_HUMAN primary cilia formation NA NA cell projection organization (GO:0030030)|positive regulation of kinase activity (GO:0033674)|regulation of cell projection organization (GO:0031344) ciliary basal body (GO:0036064)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802) beta-tubulin binding (GO:0048487)|gamma-tubulin binding (GO:0043015)|kinesin binding (GO:0019894)|protein kinase binding (GO:0019901)|Rab GTPase binding (GO:0017137) NA TTTCCCAGATTGACATAAAAC 0.393 NA T||| 29 0.00579073 0.0 0.0 5008 , , NA 20854 0.0268 NA 0.0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC050319 CCDS833.1, CCDS72836.1 1p13.2 2012-10-10 2012-10-10 2012-10-10 ENSG00000173947 ENSG00000173947 128344 27009 protein-coding gene gene with protein product 614234 chromosome 1 open reading frame 88 C1orf88 NA 20643351 Standard NM_181643 XM_005270472 NA Approved FLJ23853, pitchfork uc001eaw.2 Q8TCI5 OTTHUMG00000011168 ENST00000369738.4:c.*502T>G chr1.hg19:g.111894451T>G NA D9J0A2|D9J0A3|Q4G0K4|Q52LJ6|Q5T5D5|Q5T5D6|Q8N310 hg19 CCDS833.1 0.02 4.079408 GATxGAC COVERED NOVEL PIFO-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000030718.1 1 3.909409 KEEP 0 0 0 13 374 TT 0.994391 0.99439 0 + 5 60 180 0 0 11.27284 120 60 4347 152 ENST00000369738.4 0.04 0.999999 ADORA3 140 __UNKNOWN__ __UNKNOWN__ 1 112042632 112042632 __UNKNOWN__ Silent SNP A A G rs2229155 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:112042632A>G ENST00000241356.4 - 2 1302 c.897T>C c.(895-897)gcT>gcC p.A299A ADORA3_ENST00000369717.4_Intron|ADORA3_ENST00000369716.4_Intron NM_000677.3 NP_000668.1 P33765 AA3R_HUMAN adenosine A3 receptor 299 NA activation of adenylate cyclase activity (GO:0007190)|histamine secretion by mast cell (GO:0002553)|inflammatory response (GO:0006954)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of mucus secretion (GO:0070257)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of heart contraction (GO:0008016)|response to wounding (GO:0009611)|signal transduction (GO:0007165) integral component of plasma membrane (GO:0005887)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886) G-protein coupled adenosine receptor activity (GO:0001609) NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1) 12 all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156) all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134) Adenosine(DB00640)|Aminophylline(DB01223)|Enprofylline(DB00824) AGACCACACAAGCTTTGAGGA 0.433 NA G||| 3874 0.773562 0.7352 0.8602 5008 , , NA 23455 0.7579 NA 0.834 False NA ,,, NA NA NA 2504 0.7178 NA NA NA NA 0 G ,, 3269,1137 404.9+/-333.3 1198,873,132 75 74 74 897,, 4.6 0 1 dbSNP_98 74 7006,1594 296.6+/-303.0 2852,1302,146 no coding-synonymous,intron,intron ADORA3 NM_000677.3,NM_001081976.1,NM_020683.6 ,, 4050,2175,278 GG,GA,AA 18.5349,25.8057,20.998 ,, 299/319,, 112042632 10275,2731 2203 4300 6503 SO:0001819 synonymous_variant BC029831 CCDS838.1, CCDS839.1, CCDS41369.1 1p13.2 2014-09-17 ENSG00000121933 ENSG00000121933 140 GPCR / Class A : Adenosine receptors, Immunoglobulin superfamily / V-set domain containing 268 protein-coding gene gene with protein product 600445 NA 7607699 Standard NM_000677, NM_020683 NM_020683 NA Approved AD026 uc001ebf.3 P33765 OTTHUMG00000011957 ENST00000241356.4:c.897T>C chr1.hg19:g.112042632A>G NA A2A3P4|Q6UWU0|Q9BYZ1 hg19 CCDS839.1 0.02 28.621941 ACAxGCT COVERED NOVEL ADORA3-010 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000033065.1 1 5.759971 KEEP 0 4 140 68 2227 AA 1 1 0 - 24 60 883 0 0 54.761491 651 60 23839 875 ENST00000241356.4 0.035556 1 RAP1A 5906 __UNKNOWN__ __UNKNOWN__ 1 112251983 112251983 __UNKNOWN__ Intron SNP C C G rs3738300 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:112251983C>G ENST00000369709.3 + 7 763 RAP1A_ENST00000436150.2_Intron|RAP1A_ENST00000545460.1_Intron|RAP1A_ENST00000494982.1_Intron|RAP1A_ENST00000356415.1_Intron NM_002884.2 NP_002875.1 P62834 RAP1A_HUMAN RAP1A, member of RAS oncogene family NA NA activation of MAPKK activity (GO:0000186)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of vasculogenesis (GO:2001214)|protein transport (GO:0015031)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281) cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|guanyl-nucleotide exchange factor complex (GO:0032045)|late endosome (GO:0005770)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886) GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)|Rap guanyl-nucleotide exchange factor activity (GO:0017034) endometrium(1)|large_intestine(2)|lung(3) 6 all_cancers(81;6.79e-06)|all_epithelial(167;2.42e-05)|all_lung(203;0.000105)|Lung NSC(277;0.00021) Lung(183;0.0183)|Colorectal(144;0.0418)|LUSC - Lung squamous cell carcinoma(189;0.0966)|all cancers(265;0.098)|Epithelial(280;0.0981)|COAD - Colon adenocarcinoma(174;0.141) TATGGTATTTCTAAGCTTCTG 0.398 NA C||| 1615 0.322484 0.1641 0.3285 5008 , , NA 20858 0.4375 NA 0.336 False NA ,,, NA NA NA 2504 0.3998 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC014086 CCDS840.1 1p13.3 2014-05-09 ENSG00000116473 ENSG00000116473 5906 9855 protein-coding gene gene with protein product 179520 NA 3143720 Standard NM_002884 XM_006710803 NA Approved KREV-1, SMGP21 uc001ebl.3 P62834 OTTHUMG00000011959 ENST00000369709.3:c.552+97C>G chr1.hg19:g.112251983C>G NA P10113 hg19 CCDS840.1 0.02 19.439409 TTTxTAA COVERED NOVEL RAP1A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000033071.1 1 5.024754 KEEP 0 3 107 54 1911 CC 1 1 0 + 13 60 486 0 0 29.09084 449 60 17174 595 ENST00000369709.3 0.028139 1 FAM212B 55924 __UNKNOWN__ __UNKNOWN__ 1 112265916 112265916 __UNKNOWN__ 3'UTR SNP T T C rs3795822 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:112265916T>C ENST00000357260.5 - 0 4749 FAM212B_ENST00000534365.1_Intron NM_019099.4 NP_061972.1 Q9NTI7 F212B_HUMAN family with sequence similarity 212, member B NA NA cervix(1)|endometrium(1) 2 AGCAACCTTCTTTGGGGCAAG 0.562 NA t||| 65 0.0129792 0.0 0.0 5008 , , NA 19881 0.0605 NA 0.0 False NA ,,, NA NA NA 2504 0.0041 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK055667 CCDS841.1, CCDS44195.1 1p13.2 2011-11-24 2011-11-24 2011-11-24 ENSG00000197852 ENSG00000197852 55924 28045 protein-coding gene gene with protein product chromosome 1 open reading frame 183 C1orf183 NA Standard NM_019099 NM_019099 NA Approved FLJ31105 uc001ebo.2 Q9NTI7 OTTHUMG00000011953 ENST00000357260.5:c.*3674A>G chr1.hg19:g.112265916T>C NA B3KP38|B4DF94|Q9NTI6 hg19 CCDS841.1 0.02 4.728933 TTCxTTG COVERED NOVEL FAM212B-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000033060.2 0 9.026714 KEEP 0 0 0 30 947 TT 0.999997 0.999997 0 - 6 60 226 0 0 14.671951 136 60 4968 204 ENST00000357260.5 0.042254 1 FAM212B 55924 __UNKNOWN__ __UNKNOWN__ 1 112266300 112266300 __UNKNOWN__ 3'UTR SNP A A G rs197426 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:112266300A>G ENST00000357260.5 - 0 4365 FAM212B_ENST00000534365.1_Intron NM_019099.4 NP_061972.1 Q9NTI7 F212B_HUMAN family with sequence similarity 212, member B NA NA cervix(1)|endometrium(1) 2 TACGTCTGCTATCTCCTCCAC 0.448 NA A||| 2048 0.408946 0.27 0.4395 5008 , , NA 21695 0.501 NA 0.4364 False NA ,,, NA NA NA 2504 0.4519 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK055667 CCDS841.1, CCDS44195.1 1p13.2 2011-11-24 2011-11-24 2011-11-24 ENSG00000197852 ENSG00000197852 55924 28045 protein-coding gene gene with protein product chromosome 1 open reading frame 183 C1orf183 NA Standard NM_019099 NM_019099 NA Approved FLJ31105 uc001ebo.2 Q9NTI7 OTTHUMG00000011953 ENST00000357260.5:c.*3290T>C chr1.hg19:g.112266300A>G NA B3KP38|B4DF94|Q9NTI6 hg19 CCDS841.1 0.02 12.555242 GCTxTCT COVERED NOVEL FAM212B-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000033060.2 0 14.578021 KEEP 0 1 36 61 1875 AA 1 1 0 - 16 60 573 0 0 38.37357 264 60 9410 436 ENST00000357260.5 0.057143 1 FAM212B 55924 __UNKNOWN__ __UNKNOWN__ 1 112266366 112266366 __UNKNOWN__ 3'UTR SNP T T C rs197427 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:112266366T>C ENST00000357260.5 - 0 4299 FAM212B_ENST00000534365.1_Intron NM_019099.4 NP_061972.1 Q9NTI7 F212B_HUMAN family with sequence similarity 212, member B NA NA cervix(1)|endometrium(1) 2 CCTAGGCATTTGCATTCACCT 0.483 NA C||| 2051 0.409545 0.27 0.4395 5008 , , NA 21041 0.502 NA 0.4374 False NA ,,, NA NA NA 2504 0.453 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK055667 CCDS841.1, CCDS44195.1 1p13.2 2011-11-24 2011-11-24 2011-11-24 ENSG00000197852 ENSG00000197852 55924 28045 protein-coding gene gene with protein product chromosome 1 open reading frame 183 C1orf183 NA Standard NM_019099 NM_019099 NA Approved FLJ31105 uc001ebo.2 Q9NTI7 OTTHUMG00000011953 ENST00000357260.5:c.*3224A>G chr1.hg19:g.112266366T>C NA B3KP38|B4DF94|Q9NTI6 hg19 CCDS841.1 0.02 9.75826 ATTxGCA COVERED NOVEL FAM212B-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000033060.2 1 2.912023 KEEP 0 3 107 47 1453 TT 1 1 0 - 14 60 455 0 0 29.488168 209 60 7664 321 ENST00000357260.5 0.06278 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 112631968 112631968 __UNKNOWN__ IGR SNP T T C rs13374299 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:112631968T>C NA NA RP11-88H9.2 (90504 upstream) : RP5-965F6.2 (87887 downstream) NA NA NA ccaccacacctggcctcttat 0.478 NA C||| 1017 0.203075 0.1074 0.2233 5008 , , NA 16177 0.129 NA 0.3221 False NA ,,, NA NA NA 2504 0.272 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.112631968T>C NA hg19 0.02 -0.035093 ACCxGGC UNCOVERED NOVEL 0 1 2.407522 KEEP 0 0 0 8 258 TT 0.99257 0.019833 0 2 60 69 0 0 6.649953 2 60 78 15 0.5 0.019982 WNT2B 7482 __UNKNOWN__ __UNKNOWN__ 1 113051730 113051730 __UNKNOWN__ 5'UTR SNP C C G rs11102484 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:113051730C>G ENST00000369684.4 + 0 331 WNT2B_ENST00000369686.5_Intron|WNT2B_ENST00000256640.5_Intron NM_024494.2 NP_078613.1 Q93097 WNT2B_HUMAN wingless-type MMTV integration site family, member 2B NA NA canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to starvation (GO:0009267)|chondrocyte differentiation (GO:0002062)|cornea development in camera-type eye (GO:0061303)|forebrain regionalization (GO:0021871)|hematopoietic stem cell proliferation (GO:0071425)|iris morphogenesis (GO:0061072)|lens development in camera-type eye (GO:0002088)|lung induction (GO:0060492)|male gonad development (GO:0008584)|mesenchymal-epithelial cell signaling (GO:0060638)|neuron differentiation (GO:0030182)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055) extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578) frizzled binding (GO:0005109) breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1) 18 Lung SC(450;0.246) all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CGGGGATCCTCCTCCCGGGCT 0.716 NA g||| 1299 0.259385 0.09 0.33 5008 , , NA 10891 0.3958 NA 0.331 False NA ,,, NA NA NA 2504 0.2239 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AB045116 CCDS847.1, CCDS846.1 1p13 2008-07-18 ENSG00000134245 ENSG00000134245 7482 Wingless-type MMTV integration sites 12781 protein-coding gene gene with protein product XWNT2, Xenopus, homolog of, wingless-type MMTV integration site family, member 13 601968 WNT13 NA 8761309, 10944466 Standard NM_004185 NM_024494 NA Approved XWNT2 uc001ecb.3 Q93097 OTTHUMG00000011157 ENST00000369684.4:c.-155C>G chr1.hg19:g.113051730C>G NA O14903|Q5TEH9|Q5TEI2|Q9HDC1|Q9HDC2 hg19 CCDS847.1 0.02 9.841323 CCTxCTC COVERED NOVEL WNT2B-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000030692.1 1 35.452564 KEEP 0 0 0 118 4126 CC 1 1 0 + 11 60 424 0 0 28.491914 218 60 8069 451 ENST00000369684.4 0.048035 1 WNT2B 7482 __UNKNOWN__ __UNKNOWN__ 1 113063771 113063771 __UNKNOWN__ 3'UTR SNP C C T rs2273368 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:113063771C>T ENST00000369684.4 + 0 2301 WNT2B_ENST00000369686.5_3'UTR|WNT2B_ENST00000256640.5_3'UTR NM_024494.2 NP_078613.1 Q93097 WNT2B_HUMAN wingless-type MMTV integration site family, member 2B NA NA canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to starvation (GO:0009267)|chondrocyte differentiation (GO:0002062)|cornea development in camera-type eye (GO:0061303)|forebrain regionalization (GO:0021871)|hematopoietic stem cell proliferation (GO:0071425)|iris morphogenesis (GO:0061072)|lens development in camera-type eye (GO:0002088)|lung induction (GO:0060492)|male gonad development (GO:0008584)|mesenchymal-epithelial cell signaling (GO:0060638)|neuron differentiation (GO:0030182)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055) extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578) frizzled binding (GO:0005109) breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1) 18 Lung SC(450;0.246) all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TTCTCTCTACCATTCTCAACC 0.373 NA C||| 1121 0.223842 0.0628 0.2738 5008 , , NA 19477 0.4276 NA 0.2117 False NA ,,, NA NA NA 2504 0.2086 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB045116 CCDS847.1, CCDS846.1 1p13 2008-07-18 ENSG00000134245 ENSG00000134245 7482 Wingless-type MMTV integration sites 12781 protein-coding gene gene with protein product XWNT2, Xenopus, homolog of, wingless-type MMTV integration site family, member 13 601968 WNT13 NA 8761309, 10944466 Standard NM_004185 NM_024494 NA Approved XWNT2 uc001ecb.3 Q93097 OTTHUMG00000011157 ENST00000369684.4:c.*640C>T chr1.hg19:g.113063771C>T NA O14903|Q5TEH9|Q5TEI2|Q9HDC1|Q9HDC2 hg19 CCDS847.1 0.02 1.918116 TACxATT COVERED NOVEL WNT2B-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000030692.1 1 5.718167 KEEP 0 0 0 19 660 CC 0.99986 0.993563 0 + 6 60 198 0 0 14.011489 59 60 2195 98 ENST00000369684.4 0.092308 0.993703 WNT2B 7482 __UNKNOWN__ __UNKNOWN__ 1 113068577 113068577 __UNKNOWN__ 3'UTR SNP C C T rs35147679 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:113068577C>T ENST00000369686.5 + 0 6669 ST7L_ENST00000369669.1_3'UTR|ST7L_ENST00000544629.1_3'UTR|ST7L_ENST00000358039.4_3'UTR|ST7L_ENST00000360743.4_3'UTR NM_004185.3 NP_004176.2 Q93097 WNT2B_HUMAN wingless-type MMTV integration site family, member 2B NA NA canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to starvation (GO:0009267)|chondrocyte differentiation (GO:0002062)|cornea development in camera-type eye (GO:0061303)|forebrain regionalization (GO:0021871)|hematopoietic stem cell proliferation (GO:0071425)|iris morphogenesis (GO:0061072)|lens development in camera-type eye (GO:0002088)|lung induction (GO:0060492)|male gonad development (GO:0008584)|mesenchymal-epithelial cell signaling (GO:0060638)|neuron differentiation (GO:0030182)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055) extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578) frizzled binding (GO:0005109) breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1) 18 Lung SC(450;0.246) all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) tgtcactttacagatgctgtt 0.393 NA C||| 1137 0.227037 0.0628 0.2767 5008 , , NA 21527 0.4266 NA 0.2266 False NA ,,, NA NA NA 2504 0.2086 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB045116 CCDS847.1, CCDS846.1 1p13 2008-07-18 ENSG00000134245 ENSG00000134245 7482 Wingless-type MMTV integration sites 12781 protein-coding gene gene with protein product XWNT2, Xenopus, homolog of, wingless-type MMTV integration site family, member 13 601968 WNT13 NA 8761309, 10944466 Standard NM_004185 NM_024494 NA Approved XWNT2 uc001ecb.3 Q93097 OTTHUMG00000011157 ENST00000369686.5:c.*5446C>T chr1.hg19:g.113068577C>T NA O14903|Q5TEH9|Q5TEI2|Q9HDC1|Q9HDC2 hg19 CCDS846.1 0.02 35.808429 TTAxAGA COVERED NOVEL WNT2B-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000030691.2 3 30.398599 KEEP 0 0 0 101 3594 CC 1 1 0 + 39 60 1457 0 0 96.472739 769 60 29260 1122 ENST00000369686.5 0.048267 1 ST7L 54879 __UNKNOWN__ __UNKNOWN__ 1 113140583 113140583 __UNKNOWN__ Intron SNP T T C rs12049572 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:113140583T>C ENST00000343210.7 - 5 698 ST7L_ENST00000543570.1_Intron|ST7L_ENST00000538187.1_Intron|ST7L_ENST00000369669.1_Intron|ST7L_ENST00000544629.1_Intron|ST7L_ENST00000369666.1_Intron|ST7L_ENST00000358039.4_Intron|ST7L_ENST00000490067.1_Intron|ST7L_ENST00000360743.4_Intron|ST7L_ENST00000463235.1_Intron|ST7L_ENST00000369668.2_Intron NM_138729.3 NP_620057.1 Q8TDW4 ST7L_HUMAN suppression of tumorigenicity 7 like NA NA negative regulation of cell growth (GO:0030308) integral component of membrane (GO:0016021) endometrium(1)|kidney(4)|large_intestine(3)|lung(1)|prostate(2)|stomach(1)|urinary_tract(3) 15 Lung SC(450;0.246) all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TGAACAGATATGATACATACC 0.338 NA T||| 1138 0.227236 0.062 0.2781 5008 , , NA 15213 0.4266 NA 0.2256 False NA ,,, NA NA NA 2504 0.2106 NA NA NA NA 0 T ,,, 352,4054 180.1+/-208.5 22,308,1873 110 106 107 ,,, -3 0 1 dbSNP_120 107 1769,6831 321.3+/-315.0 177,1415,2708 no intron,intron,intron,intron ST7L NM_017744.4,NM_138727.3,NM_138728.2,NM_138729.3 ,,, 199,1723,4581 CC,CT,TT 20.5698,7.9891,16.3079 ,,, ,,, 113140583 2121,10885 2203 4300 6503 SO:0001627 intron_variant AB081317 CCDS848.1, CCDS849.1, CCDS850.1, CCDS852.1 1p13.1 2008-06-06 ENSG00000007341 ENSG00000007341 54879 18441 protein-coding gene gene with protein product NA 12012006 Standard NM_138729 NA Approved FLJ20284, STLR, ST7R, FAM4B uc001ecd.3 Q8TDW4 OTTHUMG00000011753 ENST00000343210.7:c.622+9A>G chr1.hg19:g.113140583T>C NA A8K4S7|Q49AH6|Q5TEI4|Q5U5K6|Q6N067|Q7Z2Z0|Q7Z3C2|Q8N7P8|Q8TDW1|Q8TDW2|Q8TDW3|Q9NXF3 hg19 CCDS852.1 0.02 12.794632 ATAxGAT COVERED NOVEL ST7L-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000032507.1 4 17.751077 KEEP 0 0 0 59 1789 TT 1 1 0 - 19 60 669 0 0 44.819283 304 60 11054 430 ENST00000343210.7 0.058824 1 MOV10 4343 __UNKNOWN__ __UNKNOWN__ 1 113231286 113231286 __UNKNOWN__ Intron SNP T T C rs12126971 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:113231286T>C ENST00000413052.2 + 3 527 MOV10_ENST00000357443.2_Intron|MOV10_ENST00000369645.1_Intron|MOV10_ENST00000369644.1_5'UTR|MOV10_ENST00000468624.1_Intron NM_001130079.1|NM_020963.3 NP_001123551.1|NP_066014.1 Q9HCE1 MOV10_HUMAN Mov10 RISC complex RNA helicase NA NA epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615) ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822) breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3) 38 Lung SC(450;0.246) all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114) OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24) CAGCCTGTGATTGGGCTTTTC 0.423 NA T||| 1127 0.22504 0.0454 0.2795 5008 , , NA 20812 0.4395 NA 0.2346 False NA ,,, NA NA NA 2504 0.1984 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL833353 CCDS853.1, CCDS65615.1 1p13.2 2014-07-02 2014-07-02 ENSG00000155363 ENSG00000155363 4343 7200 protein-coding gene gene with protein product functional spliceosome-associated protein 113 610742 Mov10 (Moloney leukemia virus 10, mouse) homolog, Mov10, Moloney leukemia virus 10, homolog (mouse) NA 12226669 Standard NM_020963 NM_001286072 NA Approved gb110, MGC2948, fSAP113 uc001eck.3 Q9HCE1 OTTHUMG00000011906 ENST00000413052.2:c.138-271T>C chr1.hg19:g.113231286T>C NA Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9 hg19 CCDS853.1 0.02 7.06099 TGAxTGG COVERED NOVEL MOV10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000032906.1 2 24.071769 KEEP 0 0 0 80 2524 TT 1 1 0 + 12 60 456 0 0 31.78207 182 60 6625 323 ENST00000413052.2 0.061856 1 MOV10 4343 __UNKNOWN__ __UNKNOWN__ 1 113231503 113231503 __UNKNOWN__ Intron SNP G G T rs12129649 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:113231503G>T ENST00000413052.2 + 3 527 MOV10_ENST00000357443.2_Intron|MOV10_ENST00000369645.1_Intron|MOV10_ENST00000369644.1_5'UTR|MOV10_ENST00000468624.1_Intron NM_001130079.1|NM_020963.3 NP_001123551.1|NP_066014.1 Q9HCE1 MOV10_HUMAN Mov10 RISC complex RNA helicase NA NA epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615) ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822) breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3) 38 Lung SC(450;0.246) all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114) OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24) CCGCCGCCCTGCCTCCCTCGA 0.642 NA G||| 646 0.128994 0.003 0.2003 5008 , , NA 15308 0.372 NA 0.0606 False NA ,,, NA NA NA 2504 0.0685 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL833353 CCDS853.1, CCDS65615.1 1p13.2 2014-07-02 2014-07-02 ENSG00000155363 ENSG00000155363 4343 7200 protein-coding gene gene with protein product functional spliceosome-associated protein 113 610742 Mov10 (Moloney leukemia virus 10, mouse) homolog, Mov10, Moloney leukemia virus 10, homolog (mouse) NA 12226669 Standard NM_020963 NM_001286072 NA Approved gb110, MGC2948, fSAP113 uc001eck.3 Q9HCE1 OTTHUMG00000011906 ENST00000413052.2:c.138-54G>T chr1.hg19:g.113231503G>T NA Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9 hg19 CCDS853.1 0.02 1.535573 CCTxCCT COVERED NOVEL MOV10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000032906.1 5 9.303732 KEEP 0 0 0 31 1060 GG 0.999997 0.999675 0 + 7 60 228 0 0 15.61143 79 60 2869 140 ENST00000413052.2 0.081395 0.999678 MOV10 4343 __UNKNOWN__ __UNKNOWN__ 1 113236681 113236681 __UNKNOWN__ Silent SNP C C T rs3748656 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:113236681C>T ENST00000413052.2 + 8 1572 c.1182C>T c.(1180-1182)ggC>ggT p.G394G RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000357443.2_Silent_p.G394G|MOV10_ENST00000369645.1_Silent_p.G394G|MOV10_ENST00000369644.1_Silent_p.G338G|MOV10_ENST00000468624.1_3'UTR NM_001130079.1|NM_020963.3 NP_001123551.1|NP_066014.1 Q9HCE1 MOV10_HUMAN Mov10 RISC complex RNA helicase 394 NA epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615) ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822) breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3) 38 Lung SC(450;0.246) all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114) OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24) TGCTACGGGGCGACCACCTGT 0.582 NA C||| 1426 0.284744 0.1672 0.2911 5008 , , NA 17209 0.5427 NA 0.2346 False NA ,,, NA NA NA 2504 0.2249 NA NA NA NA 0 C , 805,3601 321.3+/-297.0 83,639,1481 104 95 98 1182,1182 -10.5 0.4 1 dbSNP_107 98 1768,6832 321.1+/-314.9 181,1406,2713 no coding-synonymous,coding-synonymous MOV10 NM_001130079.1,NM_020963.3 , 264,2045,4194 TT,TC,CC 20.5581,18.2705,19.7832 , 394/1004,394/1004 113236681 2573,10433 2203 4300 6503 SO:0001819 synonymous_variant AL833353 CCDS853.1, CCDS65615.1 1p13.2 2014-07-02 2014-07-02 ENSG00000155363 ENSG00000155363 4343 7200 protein-coding gene gene with protein product functional spliceosome-associated protein 113 610742 Mov10 (Moloney leukemia virus 10, mouse) homolog, Mov10, Moloney leukemia virus 10, homolog (mouse) NA 12226669 Standard NM_020963 NM_001286072 NA Approved gb110, MGC2948, fSAP113 uc001eck.3 Q9HCE1 OTTHUMG00000011906 ENST00000413052.2:c.1182C>T chr1.hg19:g.113236681C>T NA Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9 hg19 CCDS853.1 0.02 6.299904 GGGxGAC COVERED NOVEL MOV10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000032906.1 0 13.845038 KEEP 0 0 0 46 1622 CC 1 1 0 + 8 60 272 0 0 17.081099 159 60 5780 254 ENST00000413052.2 0.047904 1 MOV10 4343 __UNKNOWN__ __UNKNOWN__ 1 113241052 113241052 __UNKNOWN__ Silent SNP T T C rs2306940 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:113241052T>C ENST00000413052.2 + 16 2850 c.2460T>C c.(2458-2460)gcT>gcC p.A820A MOV10_ENST00000357443.2_Silent_p.A820A|MOV10_ENST00000369645.1_Silent_p.A820A|MOV10_ENST00000369644.1_Silent_p.A764A|MOV10_ENST00000468624.1_3'UTR NM_001130079.1|NM_020963.3 NP_001123551.1|NP_066014.1 Q9HCE1 MOV10_HUMAN Mov10 RISC complex RNA helicase 820 NA epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615) ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822) breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3) 38 Lung SC(450;0.246) all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114) OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24) AGGGCAAAGCTCGCCTGAGCC 0.607 NA C||| 1438 0.287141 0.1762 0.2911 5008 , , NA 18562 0.5417 NA 0.2346 False NA ,,, NA NA NA 2504 0.226 NA NA NA NA 0 C , 827,3579 746.2+/-411.7 90,647,1466 59 47 51 2460,2460 0.9 1 1 dbSNP_100 51 1766,6834 731.5+/-406.8 181,1404,2715 no coding-synonymous,coding-synonymous MOV10 NM_001130079.1,NM_020963.3 , 271,2051,4181 CC,CT,TT 20.5349,18.7699,19.937 , 820/1004,820/1004 113241052 2593,10413 2203 4300 6503 SO:0001819 synonymous_variant AL833353 CCDS853.1, CCDS65615.1 1p13.2 2014-07-02 2014-07-02 ENSG00000155363 ENSG00000155363 4343 7200 protein-coding gene gene with protein product functional spliceosome-associated protein 113 610742 Mov10 (Moloney leukemia virus 10, mouse) homolog, Mov10, Moloney leukemia virus 10, homolog (mouse) NA 12226669 Standard NM_020963 NM_001286072 NA Approved gb110, MGC2948, fSAP113 uc001eck.3 Q9HCE1 OTTHUMG00000011906 ENST00000413052.2:c.2460T>C chr1.hg19:g.113241052T>C NA Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9 hg19 CCDS853.1 0.02 6.449495 AGCxCGC COVERED NOVEL MOV10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000032906.1 0 20.72596 KEEP 0 0 0 69 2160 TT 1 1 0 + 7 60 255 0 0 15.92753 177 60 6237 316 ENST00000413052.2 0.038043 1 MOV10 4343 __UNKNOWN__ __UNKNOWN__ 1 113243048 113243048 __UNKNOWN__ Silent SNP C C T rs6679 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:113243048C>T ENST00000413052.2 + 21 3321 c.2931C>T c.(2929-2931)agC>agT p.S977S MOV10_ENST00000357443.2_Silent_p.S977S|MOV10_ENST00000369645.1_Silent_p.S977S|MOV10_ENST00000369644.1_Silent_p.S921S|MOV10_ENST00000468624.1_3'UTR NM_001130079.1|NM_020963.3 NP_001123551.1|NP_066014.1 Q9HCE1 MOV10_HUMAN Mov10 RISC complex RNA helicase 977 NA epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615) ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822) breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3) 38 Lung SC(450;0.246) all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114) OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24) GGCCCCACAGCCATGACTACC 0.607 NA T||| 1422 0.283946 0.1702 0.2911 5008 , , NA 18569 0.5407 NA 0.2346 False NA ,,, NA NA NA 2504 0.2188 NA NA NA NA 0 T , 822,3584 749.2+/-412.0 90,642,1471 85 88 87 2931,2931 -0.8 0 1 dbSNP_52 87 1769,6831 734.4+/-406.9 182,1405,2713 no coding-synonymous,coding-synonymous MOV10 NM_001130079.1,NM_020963.3 , 272,2047,4184 TT,TC,CC 20.5698,18.6564,19.9216 , 977/1004,977/1004 113243048 2591,10415 2203 4300 6503 SO:0001819 synonymous_variant AL833353 CCDS853.1, CCDS65615.1 1p13.2 2014-07-02 2014-07-02 ENSG00000155363 ENSG00000155363 4343 7200 protein-coding gene gene with protein product functional spliceosome-associated protein 113 610742 Mov10 (Moloney leukemia virus 10, mouse) homolog, Mov10, Moloney leukemia virus 10, homolog (mouse) NA 12226669 Standard NM_020963 NM_001286072 NA Approved gb110, MGC2948, fSAP113 uc001eck.3 Q9HCE1 OTTHUMG00000011906 ENST00000413052.2:c.2931C>T chr1.hg19:g.113243048C>T NA Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9 hg19 CCDS853.1 0.02 14.434553 CAGxCAT COVERED NOVEL MOV10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000032906.1 1 41.226391 KEEP 0 0 0 137 4808 CC 1 1 0 + 19 60 676 0 0 43.551463 378 60 13889 617 ENST00000413052.2 0.047859 1 RHOC 389 __UNKNOWN__ __UNKNOWN__ 1 113246506 113246506 __UNKNOWN__ Intron SNP C C T rs2306937 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:113246506C>T ENST00000285735.2 - 3 1203 RP11-426L16.10_ENST00000471038.2_Intron|RHOC_ENST00000369633.2_Intron|RHOC_ENST00000369637.1_Intron|RHOC_ENST00000339083.7_Intron|RHOC_ENST00000369636.2_Intron|RHOC_ENST00000369642.3_Intron|RP11-426L16.10_ENST00000606505.1_Intron|RHOC_ENST00000369638.2_Intron|RHOC_ENST00000369632.2_Intron P08134 RHOC_HUMAN ras homolog family member C NA NA apical junction assembly (GO:0043297)|axon guidance (GO:0007411)|cytokinesis (GO:0000910)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cleavage furrow (GO:0032154)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886) GTP binding (GO:0005525)|signal transducer activity (GO:0004871) endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 9 Lung SC(450;0.246) all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CCCAAACCTCCCTGGAAACCG 0.507 NA C||| 1146 0.228834 0.0628 0.2781 5008 , , NA 18029 0.4425 NA 0.2346 False NA ,,, NA NA NA 2504 0.1922 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC052808 CCDS854.1 1p13.1 2012-02-27 2012-02-27 2004-03-24 ENSG00000155366 ENSG00000155366 389 669 protein-coding gene gene with protein product 165380 ras homolog gene family, member C ARH9, ARHC NA 3283705 Standard NM_175744 NM_001042678 NA Approved RhoC uc001ecp.1 P08134 OTTHUMG00000011905 ENST00000285735.2:c.7-78G>A chr1.hg19:g.113246506C>T NA B3KSW1|Q6ICN3 hg19 CCDS854.1 0.02 11.651719 CTCxCTG COVERED NOVEL RHOC-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000032904.2 1 41.835492 KEEP 0 0 0 139 4897 CC 1 1 0 - 20 60 717 0 0 50.225566 252 60 9405 507 ENST00000285735.2 0.073529 1 MAGI3 260425 __UNKNOWN__ __UNKNOWN__ 1 113933482 113933482 __UNKNOWN__ 5'UTR SNP C C G rs10857994 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:113933482C>G ENST00000369617.4 + 0 112 Q5TCQ9 MAGI3_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 3 NA NA apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032) membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923) ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GGGCGTCTCGCGTCTGGGAAC 0.766 NA G||| 1455 0.290535 0.1536 0.3343 5008 , , NA 7411 0.6071 NA 0.2386 False NA ,,, NA NA NA 2504 0.1718 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF213259 CCDS860.1, CCDS44196.1 1p12-p11.2 2008-02-05 ENSG00000081026 ENSG00000081026 260425 29647 protein-coding gene gene with protein product 615943 NA 10997877, 10748157 Standard NM_152900 NM_152900 NA Approved MAGI-3 uc001edk.3 Q5TCQ9 OTTHUMG00000011737 ENST00000369617.4:c.-174C>G chr1.hg19:g.113933482C>G NA Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8 hg19 0.02 2.499551 TCGxGTC COVERED NOVEL MAGI3-002 NOVEL basic protein_coding NA protein_coding OTTHUMT00000032427.3 1 18.692211 KEEP 0 1 34 74 2437 CC 1 0.995084 0 + 7 60 279 0 0 21.499118 60 60 1994 166 ENST00000369617.4 0.104478 0.995084 MAGI3 260425 __UNKNOWN__ __UNKNOWN__ 1 113992475 113992475 __UNKNOWN__ Intron SNP C C T rs12025806 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:113992475C>T ENST00000307546.9 + 1 391 MAGI3_ENST00000369617.4_Intron|MAGI3_ENST00000369615.1_Intron|MAGI3_ENST00000486456.1_Intron|MAGI3_ENST00000369611.4_Intron NM_001142782.1 NP_001136254.1 Q5TCQ9 MAGI3_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 3 NA NA apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032) membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923) ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CCAAACAAAACGTTCCAGGGG 0.448 NA C||| 1142 0.228035 0.0182 0.2983 5008 , , NA 17344 0.6022 NA 0.175 False NA ,,, NA NA NA 2504 0.1309 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF213259 CCDS860.1, CCDS44196.1 1p12-p11.2 2008-02-05 ENSG00000081026 ENSG00000081026 260425 29647 protein-coding gene gene with protein product 615943 NA 10997877, 10748157 Standard NM_152900 NM_152900 NA Approved MAGI-3 uc001edk.3 Q5TCQ9 OTTHUMG00000011737 ENST00000307546.9:c.316+58504C>T chr1.hg19:g.113992475C>T NA Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8 hg19 CCDS44196.1 0.02 2.220707 AAAxGTT COVERED NOVEL MAGI3-004 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000032429.1 1 5.115485 KEEP 5 0 0 17 576 CC 0.99649 0.99519 0 + 5 45 193 0 0 13.679376 71 50 2555 106 ENST00000307546.9 0.065789 0.998696 PTPN22 26191 __UNKNOWN__ __UNKNOWN__ 1 114414108 114414108 __UNKNOWN__ Intron SNP C C T rs3789612 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:114414108C>T ENST00000359785.5 - 1 223 PTPN22_ENST00000460620.1_Intron|AP4B1-AS1_ENST00000419536.1_RNA|PTPN22_ENST00000528414.1_Intron|PTPN22_ENST00000525799.1_Intron|PTPN22_ENST00000420377.2_Intron|PTPN22_ENST00000534519.1_Intron|PTPN22_ENST00000538253.1_Intron NM_001193431.1|NM_015967.5 NP_001180360.1|NP_057051 Q9Y2R2 PTN22_HUMAN protein tyrosine phosphatase, non-receptor type 22 (lymphoid) NA NA negative regulation of T cell activation (GO:0050868)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphoanandamide dephosphorylation (GO:0035644)|protein dephosphorylation (GO:0006470)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of innate immune response (GO:0045088)|regulation of natural killer cell proliferation (GO:0032817)|T cell differentiation (GO:0030217) cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471) kinase binding (GO:0019900)|protein tyrosine phosphatase activity (GO:0004725)|SH3 domain binding (GO:0017124) NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Lung SC(450;0.184) all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CCCCCATAGTCAGTTAAATAG 0.408 NA C||| 142 0.0283546 0.0008 0.0101 5008 , , NA 16960 0.12 NA 0.008 False NA ,,, NA NA NA 2504 0.0051 NA NA NA NA 0 C ,, 3,4403 6.2+/-15.9 0,3,2200 56 60 58 ,, 3.5 0 1 dbSNP_107 58 9,8591 7.1+/-27.0 0,9,4291 no intron,intron,intron PTPN22 NM_001193431.1,NM_012411.4,NM_015967.5 ,, 0,12,6491 TT,TC,CC 0.1047,0.0681,0.0923 ,, ,, 114414108 12,12994 2203 4300 6503 SO:0001627 intron_variant AF001846 CCDS863.1, CCDS864.1, CCDS864.2 1p13.2 2011-06-09 2005-02-02 ENSG00000134242 ENSG00000134242 26191 Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor 9652 protein-coding gene gene with protein product 600716 protein tyrosine phosphatase, non-receptor type 8 PTPN8 NA 10068674, 1373816 Standard NM_015967 NM_015967 NA Approved Lyp, Lyp1, Lyp2 uc001eds.3 Q9Y2R2 OTTHUMG00000011936 ENST00000359785.5:c.87+50G>A chr1.hg19:g.114414108C>T NA A0N0K6|B1ALC8|D4NZ71|E9PLD8|E9PPI1|O95063|O95064|Q6IPX8|Q8WVM1 hg19 CCDS863.1 0.02 6.181937 AGTxAGT COVERED NOVEL PTPN22-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000033015.1 0 6.620977 KEEP 0 0 0 22 752 CC 0.999879 0.999879 0 - 7 60 249 0 0 15.609535 161 60 5946 210 ENST00000359785.5 0.041667 1 AP4B1 10717 __UNKNOWN__ __UNKNOWN__ 1 114447559 114447559 __UNKNOWN__ 5'UTR SNP C C T rs397843869|rs28364563 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:114447559C>T ENST00000369569.1 - 0 61 AP4B1_ENST00000256658.4_Intron NM_001253852.1 NP_001240781.1 Q9Y6B7 AP4B1_HUMAN adaptor-related protein complex 4, beta 1 subunit NA NA intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192) clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802) protein transporter activity (GO:0008565)|transporter activity (GO:0005215) breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3) 25 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CTCTTCAGGCCCTACCGTCGG 0.701 NA C||| 46 0.0091853 0.0 0.0 5008 , , NA 13633 0.0456 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF092094 CCDS865.1 1p13.2 2012-03-30 ENSG00000134262 ENSG00000134262 10717 572 protein-coding gene gene with protein product beta 4 subunit of AP-4 607245 spastic paraplegia 47 SPG47 NA 10066790 Standard NM_006594 NM_006594 NA Approved BETA-4 uc001eeb.3 Q9Y6B7 OTTHUMG00000011943 ENST00000369569.1:c.-220G>A chr1.hg19:g.114447559C>T NA B7Z4X3|Q59EJ4|Q96CL6 hg19 CCDS865.1 0.02 13.822835 GGCxCTA COVERED NOVEL AP4B1-009 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000033037.1 0 71.930815 KEEP 0 0 0 239 8430 CC 1 1 0 - 16 60 586 0 0 38.439341 314 60 11472 748 ENST00000369569.1 0.048485 1 HIPK1 204851 __UNKNOWN__ __UNKNOWN__ 1 114505000 114505000 __UNKNOWN__ Silent SNP G G A rs17852555 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:114505000G>A ENST00000369558.1 + 9 2275 c.2043G>A c.(2041-2043)ccG>ccA p.P681P HIPK1_ENST00000369559.4_Silent_p.P681P|HIPK1_ENST00000369554.2_Silent_p.P681P|HIPK1_ENST00000340480.4_Silent_p.P307P|HIPK1_ENST00000426820.2_Silent_p.P681P|HIPK1_ENST00000369553.1_Silent_p.P287P|HIPK1_ENST00000369561.4_Silent_p.P647P|HIPK1_ENST00000406344.1_Silent_p.P287P|HIPK1_ENST00000369555.2_Silent_p.P681P Q86Z02 HIPK1_HUMAN homeodomain interacting protein kinase 1 681 NA anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674) breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2) 39 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) ATGCTGTACCGATTGTACCCC 0.448 NA A||| 1189 0.23742 0.351 0.196 5008 , , NA 18319 0.245 NA 0.2286 False NA ,,, NA NA NA 2504 0.1145 NA NA NA NA 0 A ,,, 1435,2971 683.7+/-404.3 233,969,1001 109 102 104 2043,861,2043,921 -0.7 1 1 dbSNP_123 104 2085,6515 718.0+/-406.2 251,1583,2466 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous HIPK1 NM_152696.3,NM_181358.2,NM_198268.2,NM_198269.2 ,,, 484,2552,3467 AA,AG,GG 24.2442,32.5692,27.0644 ,,, 681/1076,287/817,681/1211,307/837 114505000 3520,9486 2203 4300 6503 SO:0001819 synonymous_variant AB089957 CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1 1p13.1 2008-02-05 ENSG00000163349 ENSG00000163349 204851 19006 protein-coding gene gene with protein product 608003 NA Standard NM_198268 NM_198268 NA Approved KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548 uc001eem.3 Q86Z02 OTTHUMG00000011983 ENST00000369558.1:c.2043G>A chr1.hg19:g.114505000G>A NA A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1 hg19 CCDS867.1 0.02 10.205517 ACCxATT COVERED NOVEL HIPK1-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000033127.1 0 9.404017 KEEP 0 5 162 88 2994 GG 1 1 0 + 11 60 379 0 0 23.057851 278 60 9910 486 ENST00000369558.1 0.038062 1 HIPK1 204851 __UNKNOWN__ __UNKNOWN__ 1 114512939 114512939 __UNKNOWN__ Intron SNP A A T rs3811018 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:114512939A>T ENST00000369558.1 + 14 3245 HIPK1_ENST00000369559.4_Intron|HIPK1_ENST00000369554.2_Intron|HIPK1_ENST00000340480.4_Intron|HIPK1_ENST00000426820.2_Intron|HIPK1_ENST00000369553.1_Intron|HIPK1_ENST00000369561.4_Intron|HIPK1_ENST00000406344.1_Intron|HIPK1_ENST00000369555.2_Intron Q86Z02 HIPK1_HUMAN homeodomain interacting protein kinase 1 NA NA anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674) breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2) 39 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TCTTAAAGAGACCTTAATTCA 0.338 NA T||| 3950 0.788738 0.9675 0.7478 5008 , , NA 22733 0.8611 NA 0.6958 False NA ,,, NA NA NA 2504 0.5971 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB089957 CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1 1p13.1 2008-02-05 ENSG00000163349 ENSG00000163349 204851 19006 protein-coding gene gene with protein product 608003 NA Standard NM_198268 NM_198268 NA Approved KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548 uc001eem.3 Q86Z02 OTTHUMG00000011983 ENST00000369558.1:c.3013+120A>T chr1.hg19:g.114512939A>T NA A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1 hg19 CCDS867.1 0.02 1.968523 GAGxCCT COVERED NOVEL HIPK1-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000033127.1 0 3.907268 KEEP 0 0 0 13 346 AA 0.994391 0.993801 0 + 8 60 295 0 0 21.934799 74 60 2523 96 ENST00000369558.1 0.097561 0.999407 OLFML3 56944 __UNKNOWN__ __UNKNOWN__ 1 114524661 114524661 __UNKNOWN__ 3'UTR SNP C C A rs7364 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:114524661C>A ENST00000320334.4 + 0 1565 OLFML3_ENST00000491700.1_3'UTR|OLFML3_ENST00000369551.1_3'UTR|OLFML3_ENST00000393300.2_3'UTR NM_020190.2 NP_064575.1 Q9NRN5 OLFL3_HUMAN olfactomedin-like 3 NA NA multicellular organismal development (GO:0007275) extracellular region (GO:0005576)|vesicle (GO:0031982) breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1) 14 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GCTAAGGATGCCCCAGACCCA 0.547 NA a||| 1131 0.225839 0.3389 0.196 5008 , , NA 16049 0.248 NA 0.2137 False NA ,,, NA NA NA 2504 0.0838 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF201945 CCDS870.1, CCDS65618.1, CCDS72839.1 1p13.1 2008-02-05 ENSG00000116774 ENSG00000116774 56944 24956 protein-coding gene gene with protein product 610088 NA Standard NM_020190 NM_001286353 NA Approved HNOEL-iso, OLF44 uc001eer.1 Q9NRN5 OTTHUMG00000011980 ENST00000320334.4:c.*270C>A chr1.hg19:g.114524661C>A NA Q53FR1|Q53HV9|Q5SQL6|Q69AX9|Q8NBJ2 hg19 CCDS870.1 0.02 4.219758 ATGxCCC COVERED NOVEL OLFML3-011 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000033119.1 0 12.640339 KEEP 0 0 0 42 1451 CC 1 0.999992 0 + 5 60 179 0 0 11.476587 104 60 3890 182 ENST00000320334.4 0.045872 0.999992 SYT6 148281 __UNKNOWN__ __UNKNOWN__ 1 114680540 114680540 __UNKNOWN__ Silent SNP C C T rs17032441 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:114680540C>T ENST00000610222.1 - 3 794 c.648G>A c.(646-648)tcG>tcA p.S216S SYT6_ENST00000393296.1_Silent_p.S216S|SYT6_ENST00000607941.1_Silent_p.S131S|SYT6_ENST00000609117.1_Silent_p.S131S|SYT6_ENST00000369547.1_Silent_p.S131S Q5T7P8 SYT6_HUMAN synaptotagmin VI 216 NA acrosomal vesicle exocytosis (GO:0060478) cell junction (GO:0030054)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021) clathrin binding (GO:0030276)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)|transporter activity (GO:0005215) p.S131S(1) central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 37 Lung SC(450;0.184) all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CCCCATCCACCGACTTCTGCT 0.557 NA c||| 1040 0.207668 0.2247 0.1628 5008 , , NA 21878 0.2579 NA 0.2078 False NA ,,, NA NA NA 2504 0.1646 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) T 836,3570 331.5+/-302.0 74,688,1441 116 101 106 393 -10.8 0.4 1 dbSNP_123 106 1817,6783 327.6+/-317.9 191,1435,2674 no coding-synonymous SYT6 NM_205848.2 265,2123,4115 TT,TC,CC 21.1279,18.9741,20.3983 131/426 114680540 2653,10353 2203 4300 6503 SO:0001819 synonymous_variant CCDS871.1 1p13.1 2013-01-21 ENSG00000134207 ENSG00000134207 148281 Synaptotagmins 18638 protein-coding gene gene with protein product 607718 NA 11543631 Standard NM_205848 NM_205848 NA Approved uc021orz.1 Q5T7P8 OTTHUMG00000011755 ENST00000610222.1:c.648G>A chr1.hg19:g.114680540C>T NA B1AMB8|B3KPK1 hg19 0.02 22.455559 CACxGAC COVERED NOVEL SYT6-004 KNOWN not_organism_supported|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000314819.2 4 21.668348 KEEP 0 0 0 72 2434 CC 1 1 0 - 15 60 563 0 0 33.729901 524 60 17849 743 ENST00000610222.1 0.027829 1 SIKE1 80143 __UNKNOWN__ __UNKNOWN__ 1 115316573 115316573 __UNKNOWN__ 3'UTR SNP A A T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:115316573A>T ENST00000060969.5 - 0 1012 SIKE1_ENST00000369528.5_3'UTR Q9BRV8 SIKE1_HUMAN suppressor of IKBKE 1 NA NA innate immune response (GO:0045087) cytosol (GO:0005829) endometrium(1)|kidney(2)|large_intestine(1)|lung(2) 6 GCTGGCTTATAAAAAATGCTC 0.264 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK024821 CCDS878.1, CCDS41371.1 1p13.1 2009-08-13 ENSG00000052723 ENSG00000052723 80143 26119 protein-coding gene gene with protein product suppressor of IKK epsilon 611656 NA 16281057 Standard NM_025073 NM_025073 NA Approved FLJ21168, SIKE uc001efp.4 Q9BRV8 OTTHUMG00000012061 ENST00000060969.5:c.*319T>A chr1.hg19:g.115316573A>T NA Q5TEZ7|Q5TEZ9|Q68DZ4|Q9H778 hg19 CCDS878.1 0.02 5.724814 TATxAAA COVERED NOVEL SIKE1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000033401.1 1 15.646324 KEEP 0 0 0 52 1635 AA 1 1 0 - 8 60 285 0 0 17.97513 179 60 6427 292 ENST00000060969.5 0.042781 1 VANGL1 81839 __UNKNOWN__ __UNKNOWN__ 1 116240026 116240026 __UNKNOWN__ 3'UTR SNP G G A rs6428677 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:116240026G>A ENST00000355485.2 + 0 7872 VANGL1_ENST00000369510.4_3'UTR NM_001172411.1|NM_138959.2 NP_001165882.1|NP_620409.1 Q8TAA9 VANG1_HUMAN VANGL planar cell polarity protein 1 NA NA multicellular organismal development (GO:0007275) integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1) 27 Lung SC(450;0.211) all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) AATAGTTTACGGTAGGCTTTA 0.333 NA G||| 1375 0.274561 0.3003 0.268 5008 , , NA 17975 0.3621 NA 0.2018 False NA ,,, NA NA NA 2504 0.229 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB075805 CCDS883.1, CCDS53350.1 1p13.1 2013-03-05 2013-03-05 ENSG00000173218 ENSG00000173218 81839 15512 protein-coding gene gene with protein product 610132 vang (van gogh, Drosophila)-like 1, vang, van gogh-like 1 (Drosophila), vang-like 1 (van gogh, Drosophila) NA 11956595, 12011995 Standard NM_001172411 NA Approved STB2 uc001efv.1 Q8TAA9 OTTHUMG00000011971 ENST00000355485.2:c.*6026G>A chr1.hg19:g.116240026G>A NA Q5T1D3|Q5T1D4|Q86WG8|Q8N559 hg19 CCDS883.1 0.02 6.411724 TACxGTA COVERED NOVEL VANGL1-201 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000033096.1 3 8.126291 KEEP 0 0 0 27 932 GG 0.999988 0.999988 0 + 7 60 233 0 0 14.243365 169 60 5840 252 ENST00000355485.2 0.039773 1 CASQ2 845 __UNKNOWN__ __UNKNOWN__ 1 116243719 116243719 __UNKNOWN__ 3'UTR SNP C C T rs28730709 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:116243719C>T ENST00000261448.5 - 0 1582 CASQ2_ENST00000456138.2_3'UTR NM_001232.3 NP_001223.2 O14958 CASQ2_HUMAN calsequestrin 2 (cardiac muscle) NA NA cardiac muscle contraction (GO:0060048)|cellular response to caffeine (GO:0071313)|detection of calcium ion (GO:0005513)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|protein polymerization (GO:0051258)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of heart rate (GO:0002027)|regulation of membrane repolarization (GO:0060306)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|sequestering of calcium ion (GO:0051208)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085) calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|junctional sarcoplasmic reticulum membrane (GO:0014701)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018) calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803) breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1) 18 Lung SC(450;0.211) all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) CTGCTCCTGACGCAAAGGGAG 0.488 NA C||| 65 0.0129792 0.0 0.0 5008 , , NA 23779 0.0645 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC022288 CCDS884.1 1p13.1 2014-09-17 ENSG00000118729 ENSG00000118729 845 Protein disulfide isomerases 1513 protein-coding gene gene with protein product 114251 NA 8406504 Standard NM_001232 NM_001232 NA Approved PDIB2 uc001efx.4 O14958 OTTHUMG00000011970 ENST00000261448.5:c.*143G>A chr1.hg19:g.116243719C>T NA B2R7M6|B4DIB0|Q5T1D2|Q8TBW8 hg19 CCDS884.1 0.02 4.352475 TGAxGCA COVERED NOVEL CASQ2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000033091.1 3 4.212207 KEEP 0 0 0 14 473 CC 0.995343 0.995343 0 - 8 60 296 0 0 20.424235 120 60 4214 156 ENST00000261448.5 0.0625 1 NHLH2 4808 __UNKNOWN__ __UNKNOWN__ 1 116383140 116383140 __UNKNOWN__ 5'UTR SNP C C T rs150476802 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:116383140C>T ENST00000369506.1 - 0 3398 NHLH2_ENST00000320238.3_5'UTR Q02577 HEN2_HUMAN nescient helix loop helix 2 NA NA cell differentiation (GO:0030154)|central nervous system development (GO:0007417)|mating behavior (GO:0007617)|ovulation cycle (GO:0042698)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634)|transcription factor complex (GO:0005667) DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102) prostate(1) 1 Lung SC(450;0.184) all_cancers(81;1.75e-06)|all_epithelial(167;1.16e-06)|all_lung(203;9.55e-06)|Lung NSC(69;5.83e-05) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) TGAAAAGTCTCGTGCCTTTTT 0.328 NA C||| 15 0.00299521 0.0 0.0 5008 , , NA 16642 0.0149 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant CCDS885.1 1p12-p11 2013-05-21 ENSG00000177551 ENSG00000177551 4808 Basic helix-loop-helix proteins 7818 protein-coding gene gene with protein product 162361 HEN2 NA 1528853 Standard NM_005599 NM_005599 NA Approved NSCL2, bHLHa34 uc001efy.3 Q02577 OTTHUMG00000011969 ENST00000369506.1:c.-2147G>A chr1.hg19:g.116383140C>T NA Q5T1P6 hg19 CCDS885.1 0.02 1.910327 TCTxGTG COVERED NOVEL NHLH2-001 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000033090.1 0 8.426932 KEEP 0 0 0 28 958 CC 0.999997 0.999959 0 - 5 60 181 0 0 11.867892 95 60 3392 163 ENST00000369506.1 0.05 0.999962 IGSF3 3321 __UNKNOWN__ __UNKNOWN__ 1 117209424 117209424 __UNKNOWN__ 5'UTR SNP C C T rs188679489|rs139697931 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:117209424C>T ENST00000369486.3 - 0 290 IGSF3_ENST00000369483.1_5'UTR NM_001007237.1 NP_001007238.1 O75054 IGSF3_HUMAN immunoglobulin superfamily, member 3 NA NA lacrimal gland development (GO:0032808) cell surface (GO:0009986)|integral component of membrane (GO:0016021) NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 62 Lung SC(450;0.225) all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05) Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166) AATCACCCTGCCTGGCATCAA 0.557 NA C||| 38 0.00758786 0.0 0.0 5008 , , NA 16642 0.0367 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF031174 CCDS30813.1, CCDS30814.1 1p13 2013-01-29 ENSG00000143061 ENSG00000143061 3321 Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 5950 protein-coding gene gene with protein product 603491 NA 9790749 Standard NM_001542 NM_001007237 NA Approved V8, EWI-3, MGC117164 uc031pnr.1 O75054 OTTHUMG00000022751 ENST00000369486.3:c.-476G>A chr1.hg19:g.117209424C>T NA A6NJZ6|A6NMC7 hg19 CCDS30813.1 0.02 6.198581 CTGxCTG COVERED NOVEL IGSF3-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000059040.1 3 13.845097 KEEP 0 0 0 46 1635 CC 1 1 0 - 10 60 359 0 0 23.693084 179 60 6573 287 ENST00000369486.3 0.05291 1 PTGFRN 5738 __UNKNOWN__ __UNKNOWN__ 1 117529458 117529458 __UNKNOWN__ Missense_Mutation SNP G G A rs10801922 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:117529458G>A ENST00000393203.2 + 9 2656 c.2509G>A c.(2509-2511)Gtc>Atc p.V837I NM_020440.2 NP_065173.2 Q9P2B2 FPRP_HUMAN prostaglandin F2 receptor inhibitor 837 NA V -> I (in dbSNP:rs10801922). lipid particle organization (GO:0034389) cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1) 46 Lung SC(450;0.225) all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446) Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248) GCTGATCGGCGTCGGTCTGTC 0.617 NA G||| 2494 0.498003 0.3018 0.5951 5008 , , NA 18613 0.6597 NA 0.4364 False NA ,,, NA NA NA 2504 0.591 NA NA NA NA 0 G ILE/VAL 1378,3028 454.4+/-350.6 235,908,1060 111 96 101 2509 0.1 0.7 1 dbSNP_120 101 3825,4775 539.9+/-383.7 853,2119,1328 yes missense PTGFRN NM_020440.2 29 1088,3027,2388 AA,AG,GG 44.4767,31.2755,40.0046 benign 837/880 117529458 5203,7803 2203 4300 6503 SO:0001583 missense AB014734 CCDS890.1 1p13.1 2013-01-29 2013-01-25 ENSG00000134247 ENSG00000134247 5738 CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 9601 protein-coding gene gene with protein product 601204 prostaglandin F2 receptor negative regulator NA 8655148 Standard NM_020440 NM_020440 NA Approved FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315 uc001egv.1 Q9P2B2 OTTHUMG00000012028 ENST00000393203.2:c.2509G>A chr1.hg19:g.117529458G>A ENSP00000376899:p.Val837Ile NA Q5VVU9|Q8N2K6 hg19 CCDS890.1 0.02 10.399289 GGCxTCG COVERED 1078 0.4935897435897436 159 0.3231707317073171 190 0.5248618784530387 382 0.6678321678321678 347 0.4577836411609499 G 8.889 0.953437 0.18431 0.312755 0.444767 ENSG00000134247 ENST00000393203;ENST00000544471 T 0.04360 3.64 6.17 0.122 0.14702 . 0.456264 0.23245 N 0.050303 T 0.00552 0.0018 N 0.02539 -0.55 0.58432 P 5.000000000032756E-6 B 0.12013 0.005 B 0.08055 0.003 T 0.44436 -0.9328 9 0.07175 T 0.84 -16.8037 11.6594 0.51337 0.3447:0.0:0.6553:0.0 rs10801922;rs17579898;rs52822596;rs61548861;rs10801922 837 Q9P2B2 FPRP_HUMAN I 837;696 ENSP00000376899:V837I ENSP00000376899:V837I V + 1 0 PTGFRN 117330981 0.796000 0.28864 0.726000 0.30738 0.976000 0.68499 0.593000 0.23999 0.115000 0.18071 -0.137000 0.14449 GTC NOVEL PTGFRN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000033271.1 1 16.553015 KEEP 0 0 0 55 1904 GG 1 1 0 + 15 60 527 0 0 35.082887 241 60 8060 387 ENST00000393203.2 0.058594 1 PTGFRN 5738 __UNKNOWN__ __UNKNOWN__ 1 117530621 117530621 __UNKNOWN__ 3'UTR SNP A A G rs4620527 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:117530621A>G ENST00000393203.2 + 0 3819 NM_020440.2 NP_065173.2 Q9P2B2 FPRP_HUMAN prostaglandin F2 receptor inhibitor NA NA lipid particle organization (GO:0034389) cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1) 46 Lung SC(450;0.225) all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446) Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248) TTGGTCACCAAGAGTCTTGCA 0.532 NA A||| 1051 0.209864 0.0151 0.3862 5008 , , NA 19002 0.2073 NA 0.2306 False NA ,,, NA NA NA 2504 0.3292 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB014734 CCDS890.1 1p13.1 2013-01-29 2013-01-25 ENSG00000134247 ENSG00000134247 5738 CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 9601 protein-coding gene gene with protein product 601204 prostaglandin F2 receptor negative regulator NA 8655148 Standard NM_020440 NM_020440 NA Approved FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315 uc001egv.1 Q9P2B2 OTTHUMG00000012028 ENST00000393203.2:c.*1032A>G chr1.hg19:g.117530621A>G NA Q5VVU9|Q8N2K6 hg19 CCDS890.1 0.02 6.963543 CCAxGAG COVERED NOVEL PTGFRN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000033271.1 2 2.843643 KEEP 0 1 36 22 679 AA 0.999892 0.999892 0 + 14 60 509 0 0 36.549227 157 60 5604 224 ENST00000393203.2 0.081871 1 PTGFRN 5738 __UNKNOWN__ __UNKNOWN__ 1 117531620 117531620 __UNKNOWN__ 3'UTR SNP G G A rs13951 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:117531620G>A ENST00000393203.2 + 0 4818 NM_020440.2 NP_065173.2 Q9P2B2 FPRP_HUMAN prostaglandin F2 receptor inhibitor NA NA lipid particle organization (GO:0034389) cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1) 46 Lung SC(450;0.225) all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446) Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248) AGAGAGAACAGATATTTAAAC 0.388 NA A||| 2514 0.501997 0.2852 0.5922 5008 , , NA 22034 0.6597 NA 0.4364 False NA ,,, NA NA NA 2504 0.636 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB014734 CCDS890.1 1p13.1 2013-01-29 2013-01-25 ENSG00000134247 ENSG00000134247 5738 CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 9601 protein-coding gene gene with protein product 601204 prostaglandin F2 receptor negative regulator NA 8655148 Standard NM_020440 NM_020440 NA Approved FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315 uc001egv.1 Q9P2B2 OTTHUMG00000012028 ENST00000393203.2:c.*2031G>A chr1.hg19:g.117531620G>A NA Q5VVU9|Q8N2K6 hg19 CCDS890.1 0.02 6.702197 ACAxATA COVERED NOVEL PTGFRN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000033271.1 4 6.019305 KEEP 0 0 0 20 687 GG 0.999863 0.999863 0 + 10 60 364 0 0 24.455666 168 60 6259 223 ENST00000393203.2 0.05618 1 PTGFRN 5738 __UNKNOWN__ __UNKNOWN__ 1 117532291 117532291 __UNKNOWN__ 3'UTR SNP A A G rs8254 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:117532291A>G ENST00000393203.2 + 0 5489 NM_020440.2 NP_065173.2 Q9P2B2 FPRP_HUMAN prostaglandin F2 receptor inhibitor NA NA lipid particle organization (GO:0034389) cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1) 46 Lung SC(450;0.225) all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446) Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248) AAATTCCTGTAAATTGTTTAC 0.318 NA A||| 1191 0.237819 0.0877 0.3934 5008 , , NA 16868 0.2073 NA 0.2306 False NA ,,, NA NA NA 2504 0.3691 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB014734 CCDS890.1 1p13.1 2013-01-29 2013-01-25 ENSG00000134247 ENSG00000134247 5738 CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 9601 protein-coding gene gene with protein product 601204 prostaglandin F2 receptor negative regulator NA 8655148 Standard NM_020440 NM_020440 NA Approved FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315 uc001egv.1 Q9P2B2 OTTHUMG00000012028 ENST00000393203.2:c.*2702A>G chr1.hg19:g.117532291A>G NA Q5VVU9|Q8N2K6 hg19 CCDS890.1 0.02 7.265549 TGTxAAT COVERED NOVEL PTGFRN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000033271.1 0 4.180684 KEEP 0 2 72 39 1161 AA 1 1 0 + 11 60 417 0 0 28.9179 171 60 6173 267 ENST00000393203.2 0.06044 1 PTGFRN 5738 __UNKNOWN__ __UNKNOWN__ 1 117532790 117532790 __UNKNOWN__ 3'UTR SNP C C T rs1127215 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:117532790C>T ENST00000393203.2 + 0 5988 NM_020440.2 NP_065173.2 Q9P2B2 FPRP_HUMAN prostaglandin F2 receptor inhibitor NA NA lipid particle organization (GO:0034389) cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1) 46 Lung SC(450;0.225) all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446) Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248) AGAGAAAACGCTGACTTTCTT 0.388 NA T||| 1990 0.397364 0.3351 0.5403 5008 , , NA 18506 0.256 NA 0.3926 False NA ,,, NA NA NA 2504 0.5307 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB014734 CCDS890.1 1p13.1 2013-01-29 2013-01-25 ENSG00000134247 ENSG00000134247 5738 CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 9601 protein-coding gene gene with protein product 601204 prostaglandin F2 receptor negative regulator NA 8655148 Standard NM_020440 NM_020440 NA Approved FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315 uc001egv.1 Q9P2B2 OTTHUMG00000012028 ENST00000393203.2:c.*3201C>T chr1.hg19:g.117532790C>T NA Q5VVU9|Q8N2K6 hg19 CCDS890.1 0.02 5.856789 ACGxTGA COVERED NOVEL PTGFRN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000033271.1 1 13.845621 KEEP 0 0 0 46 1672 CC 1 1 0 + 7 60 245 0 0 15.137994 165 60 6227 249 ENST00000393203.2 0.040698 1 PTGFRN 5738 __UNKNOWN__ __UNKNOWN__ 1 117532798 117532798 __UNKNOWN__ 3'UTR SNP C C G rs944 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:117532798C>G ENST00000393203.2 + 0 5996 NM_020440.2 NP_065173.2 Q9P2B2 FPRP_HUMAN prostaglandin F2 receptor inhibitor NA NA lipid particle organization (GO:0034389) cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1) 46 Lung SC(450;0.225) all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446) Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248) CGCTGACTTTCTTTTTAAGTG 0.373 NA C||| 1129 0.225439 0.0439 0.389 5008 , , NA 18682 0.2073 NA 0.2296 False NA ,,, NA NA NA 2504 0.3691 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB014734 CCDS890.1 1p13.1 2013-01-29 2013-01-25 ENSG00000134247 ENSG00000134247 5738 CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 9601 protein-coding gene gene with protein product 601204 prostaglandin F2 receptor negative regulator NA 8655148 Standard NM_020440 NM_020440 NA Approved FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315 uc001egv.1 Q9P2B2 OTTHUMG00000012028 ENST00000393203.2:c.*3209C>G chr1.hg19:g.117532798C>G NA Q5VVU9|Q8N2K6 hg19 CCDS890.1 0.02 6.883645 TTTxTTT COVERED NOVEL PTGFRN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000033271.1 1 13.243203 KEEP 0 0 0 44 1575 CC 1 1 0 + 7 60 258 0 0 16.303898 173 60 6547 261 ENST00000393203.2 0.038889 1 CD101 9398 __UNKNOWN__ __UNKNOWN__ 1 117560929 117560929 __UNKNOWN__ Silent SNP C C A rs3736907 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:117560929C>A ENST00000256652.4 + 6 1822 c.1764C>A c.(1762-1764)atC>atA p.I588I CD101_ENST00000369470.1_Silent_p.I588I NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4 NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2 Q93033 IGSF2_HUMAN CD101 molecule 588 Ig-like C2-type 5. NA cell surface receptor signaling pathway (GO:0007166) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812) NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 GCTCTCACATCTTCCACCAGC 0.507 NA C||| 1050 0.209665 0.0129 0.3876 5008 , , NA 18282 0.2054 NA 0.2326 False NA ,,, NA NA NA 2504 0.3303 NA NA NA NA 0 C 240,4166 140.4+/-175.9 10,220,1973 136 104 115 1764 3.2 0 1 dbSNP_107 115 2046,6554 355.9+/-330.1 240,1566,2494 no coding-synonymous CD101 NM_004258.3 250,1786,4467 AA,AC,CC 23.7907,5.4471,17.5765 588/1022 117560929 2286,10720 2203 4300 6503 SO:0001819 synonymous_variant Z33642 CCDS891.1 1p13 2013-01-29 2009-10-27 2009-10-27 ENSG00000134256 ENSG00000134256 9398 CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 5949 protein-coding gene gene with protein product 604516 immunoglobulin superfamily, member 2 IGSF2 NA 7722300 Standard NM_004258 NM_004258 NA Approved V7 uc010oxb.2 Q93033 OTTHUMG00000012029 ENST00000256652.4:c.1764C>A chr1.hg19:g.117560929C>A NA Q15856 hg19 CCDS891.1 0.02 12.717535 CATxTTC COVERED NOVEL CD101-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000033274.1 1 12.509878 KEEP 0 2 64 64 2254 CC 1 1 0 + 16 60 568 0 0 37.125538 293 60 11184 469 ENST00000256652.4 0.05178 1 VTCN1 79679 __UNKNOWN__ __UNKNOWN__ 1 117715911 117715911 __UNKNOWN__ Intron SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:117715911C>T ENST00000369458.3 - 2 111 VTCN1_ENST00000463461.1_Intron|VTCN1_ENST00000328189.3_Intron|VTCN1_ENST00000539893.1_Intron NM_024626.3 NP_078902.2 V-set domain containing T cell activation inhibitor 1 NA NA large_intestine(7)|lung(4)|upper_aerodigestive_tract(1) 12 Lung SC(450;0.225) all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05) Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23) aaggtcataccagagtagggt 0.438 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BX648021 CCDS894.1, CCDS58019.1, CCDS58020.1 1p12 2013-01-29 ENSG00000134258 ENSG00000134258 79679 Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 28873 protein-coding gene gene with protein product B7 family member, H4, B7 superfamily member 1 608162 NA 12818165, 12818166 Standard NM_024626 NM_024626 NA Approved B7-H4, FLJ22418, B7S1, B7X, B7H4 uc001ehb.3 Q7Z7D3 OTTHUMG00000012118 ENST00000369458.3:c.33-3118G>A chr1.hg19:g.117715911C>T NA hg19 CCDS894.1 0.02 13.885271 TACxAGA COVERED NOVEL VTCN1-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000033500.2 6 20.165903 KEEP 0 0 0 67 2379 CC 1 1 0 - 10 60 379 0 0 23.623313 291 60 11126 487 ENST00000369458.3 0.033223 1 SPAG17 200162 __UNKNOWN__ __UNKNOWN__ 1 118537074 118537074 __UNKNOWN__ Silent SNP A A G rs12031260 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:118537074A>G ENST00000336338.5 - 35 5198 c.5133T>C c.(5131-5133)ccT>ccC p.P1711P NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1711 NA cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126) NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) GGAGATTAGGAGGGACAATTG 0.418 NA A||| 643 0.128395 0.034 0.0418 5008 , , NA 19044 0.3204 NA 0.0616 False NA ,,, NA NA NA 2504 0.1881 NA NA NA NA 0 A 182,4224 115.0+/-153.0 4,174,2025 189 165 173 5133 2 1 1 dbSNP_120 173 491,8107 143.0+/-199.1 16,459,3824 no coding-synonymous SPAG17 NM_206996.2 20,633,5849 GG,GA,AA 5.7106,4.1307,5.1753 1711/2224 118537074 673,12331 2203 4299 6502 SO:0001819 synonymous_variant CCDS899.1 1p12 2014-01-21 ENSG00000155761 ENSG00000155761 200162 26620 protein-coding gene gene with protein product NA Standard NM_206996 NM_206996 NA Approved FLJ34497, PF6, RP4-776P7.2, CT143 uc001ehk.2 Q6Q759 OTTHUMG00000012198 ENST00000336338.5:c.5133T>C chr1.hg19:g.118537074A>G NA Q8NAZ1|Q9NT21 hg19 CCDS899.1 0.02 18.989427 AGGxGGG COVERED NOVEL SPAG17-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000033723.1 1 8.124688 KEEP 0 0 0 27 853 AA 0.999988 0.999988 0 - 16 60 585 0 0 35.865722 452 60 16483 585 ENST00000336338.5 0.034188 1 SPAG17 200162 __UNKNOWN__ __UNKNOWN__ 1 118550594 118550594 __UNKNOWN__ Intron SNP C C A rs10923465 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:118550594C>A ENST00000336338.5 - 31 4653 NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 NA NA cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126) NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) ATTTTTACTGCCCCAGAGAAG 0.393 NA C||| 563 0.11242 0.0008 0.0288 5008 , , NA 20511 0.3085 NA 0.0606 False NA ,,, NA NA NA 2504 0.1738 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS899.1 1p12 2014-01-21 ENSG00000155761 ENSG00000155761 200162 26620 protein-coding gene gene with protein product NA Standard NM_206996 NM_206996 NA Approved FLJ34497, PF6, RP4-776P7.2, CT143 uc001ehk.2 Q6Q759 OTTHUMG00000012198 ENST00000336338.5:c.4587+72G>T chr1.hg19:g.118550594C>A NA Q8NAZ1|Q9NT21 hg19 CCDS899.1 0.02 6.295702 CTGxCCC COVERED NOVEL SPAG17-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000033723.1 0 3.611726 KEEP 0 0 0 12 422 CC 0.993634 0.993634 0 - 7 60 249 0 0 15.84078 149 60 5554 190 ENST00000336338.5 0.044872 1 SPAG17 200162 __UNKNOWN__ __UNKNOWN__ 1 118624123 118624123 __UNKNOWN__ Silent SNP C C T rs2298176 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:118624123C>T ENST00000336338.5 - 14 1970 c.1905G>A c.(1903-1905)ccG>ccA p.P635P NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 635 NA cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126) NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) GGTTGTCCCACGGTATGTTGA 0.438 NA T||| 633 0.126398 0.053 0.0447 5008 , , NA 21696 0.2877 NA 0.0596 False NA ,,, NA NA NA 2504 0.1861 NA NA NA NA 0 T 258,4148 803.5+/-415.7 6,246,1951 189 177 181 1905 -5 0.9 1 dbSNP_100 181 489,8111 797.1+/-407.5 16,457,3827 no coding-synonymous SPAG17 NM_206996.2 22,703,5778 TT,TC,CC 5.686,5.8557,5.7435 635/2224 118624123 747,12259 2203 4300 6503 SO:0001819 synonymous_variant CCDS899.1 1p12 2014-01-21 ENSG00000155761 ENSG00000155761 200162 26620 protein-coding gene gene with protein product NA Standard NM_206996 NM_206996 NA Approved FLJ34497, PF6, RP4-776P7.2, CT143 uc001ehk.2 Q6Q759 OTTHUMG00000012198 ENST00000336338.5:c.1905G>A chr1.hg19:g.118624123C>T NA Q8NAZ1|Q9NT21 hg19 CCDS899.1 0.02 21.134201 CCAxGGT COVERED NOVEL SPAG17-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000033723.1 2 13.84023 KEEP 0 0 0 46 1522 CC 1 1 0 - 16 60 577 0 0 34.506089 491 60 16968 648 ENST00000336338.5 0.031558 1 SPAG17 200162 __UNKNOWN__ __UNKNOWN__ 1 118624336 118624336 __UNKNOWN__ Intron SNP T T C rs12043257 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:118624336T>C ENST00000336338.5 - 14 1828 NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 NA NA cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126) NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) GACAGAGGGATAACCAGGGAG 0.458 NA C||| 677 0.135184 0.0862 0.0447 5008 , , NA 19045 0.2877 NA 0.0596 False NA ,,, NA NA NA 2504 0.1861 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS899.1 1p12 2014-01-21 ENSG00000155761 ENSG00000155761 200162 26620 protein-coding gene gene with protein product NA Standard NM_206996 NM_206996 NA Approved FLJ34497, PF6, RP4-776P7.2, CT143 uc001ehk.2 Q6Q759 OTTHUMG00000012198 ENST00000336338.5:c.1763-71A>G chr1.hg19:g.118624336T>C NA Q8NAZ1|Q9NT21 hg19 CCDS899.1 0.02 2.241706 GGAxAAC COVERED NOVEL SPAG17-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000033723.1 0 3.00914 KEEP 0 0 0 10 314 TT 0.992708 0.992388 0 - 6 60 238 0 0 17.245136 79 60 2767 103 ENST00000336338.5 0.070588 0.999678 SPAG17 200162 __UNKNOWN__ __UNKNOWN__ 1 118629599 118629599 __UNKNOWN__ Silent SNP G G A rs12142616 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:118629599G>A ENST00000336338.5 - 11 1457 c.1392C>T c.(1390-1392)ccC>ccT p.P464P NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 464 NA cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126) NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) CCCGCAGACTGGGTGGGACGA 0.522 NA G||| 660 0.131789 0.0749 0.0461 5008 , , NA 17193 0.2847 NA 0.0596 False NA ,,, NA NA NA 2504 0.1861 NA NA NA NA 0 G 339,4067 175.1+/-204.6 12,315,1876 126 123 124 1392 -10.1 0 1 dbSNP_120 124 489,8111 143.0+/-199.1 16,457,3827 no coding-synonymous SPAG17 NM_206996.2 28,772,5703 AA,AG,GG 5.686,7.6941,6.3663 464/2224 118629599 828,12178 2203 4300 6503 SO:0001819 synonymous_variant CCDS899.1 1p12 2014-01-21 ENSG00000155761 ENSG00000155761 200162 26620 protein-coding gene gene with protein product NA Standard NM_206996 NM_206996 NA Approved FLJ34497, PF6, RP4-776P7.2, CT143 uc001ehk.2 Q6Q759 OTTHUMG00000012198 ENST00000336338.5:c.1392C>T chr1.hg19:g.118629599G>A NA Q8NAZ1|Q9NT21 hg19 CCDS899.1 0.02 8.75328 ACTxGGT COVERED NOVEL SPAG17-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000033723.1 2 4.213446 KEEP 0 0 0 14 487 GG 0.995343 0.995343 0 - 7 60 259 0 0 15.992296 198 60 7231 244 ENST00000336338.5 0.034146 1 WARS2 10352 __UNKNOWN__ __UNKNOWN__ 1 119575297 119575297 __UNKNOWN__ 3'UTR SNP C C G rs3790548 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:119575297C>G ENST00000235521.4 - 0 1346 WARS2_ENST00000537870.1_3'UTR|WARS2_ENST00000369426.5_3'UTR NM_015836.3|NM_201263.2 NP_056651.1|NP_957715.1 Q9UGM6 SYWM_HUMAN tryptophanyl tRNA synthetase 2, mitochondrial NA NA gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)|vasculogenesis (GO:0001570) mitochondrial matrix (GO:0005759) ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830) breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2) 15 all_neural(166;0.187) all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564) Lung(183;0.0629) L-Tryptophan(DB00150) GGGATTCAGACAGCTATGCCT 0.383 NA C||| 486 0.0970447 0.1135 0.0331 5008 , , NA 20234 0.2143 NA 0.0437 False NA ,,, NA NA NA 2504 0.0542 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC021722 CCDS900.1, CCDS30817.1 1p12 2011-07-01 2007-02-23 ENSG00000116874 ENSG00000116874 10352 6.1.1.2 Aminoacyl tRNA synthetases / Class I 12730 protein-coding gene gene with protein product tryptophan tRNA ligase 2, mitochondrial 604733 NA 10072595, 10828066 Standard NM_015836 NM_201263 NA Approved TrpRS uc001ehn.3 Q9UGM6 OTTHUMG00000012335 ENST00000235521.4:c.*237G>C chr1.hg19:g.119575297C>G NA B1ALR1|B2R9D4|Q53FT4|Q5VUD2|Q86TQ0 hg19 CCDS900.1 0.02 6.926103 AGAxAGC COVERED NOVEL WARS2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000034362.1 1 9.631142 KEEP 0 0 0 32 1142 CC 0.999997 0.999997 0 - 11 60 422 0 0 29.004436 187 60 6998 268 ENST00000235521.4 0.055556 1 WARS2 10352 __UNKNOWN__ __UNKNOWN__ 1 119575818 119575818 __UNKNOWN__ Missense_Mutation SNP C C G rs3790549 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:119575818C>G ENST00000235521.4 - 6 825 c.799G>C c.(799-801)Gct>Cct p.A267P WARS2_ENST00000537870.1_Missense_Mutation_p.A173P|WARS2_ENST00000369426.5_3'UTR NM_015836.3|NM_201263.2 NP_056651.1|NP_957715.1 Q9UGM6 SYWM_HUMAN tryptophanyl tRNA synthetase 2, mitochondrial 267 NA A -> P (in dbSNP:rs3790549). gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)|vasculogenesis (GO:0001570) mitochondrial matrix (GO:0005759) ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830) breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2) 15 all_neural(166;0.187) all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564) Lung(183;0.0629) L-Tryptophan(DB00150) GCGCGGCCAGCCGGGTCATAG 0.627 NA C||| 485 0.096845 0.1127 0.0331 5008 , , NA 16387 0.2143 NA 0.0437 False NA ,,, NA NA NA 2504 0.0542 NA NA NA NA 0 C PRO/ALA, 454,3952 214.1+/-233.5 19,416,1768 72 68 69 799, 4.9 0 1 dbSNP_107 69 371,8229 122.2+/-181.2 10,351,3939 yes missense,utr-3 WARS2 NM_015836.3,NM_201263.2 27, 29,767,5707 GG,GC,CC 4.314,10.3041,6.3432 benign, 267/361, 119575818 825,12181 2203 4300 6503 SO:0001583 missense BC021722 CCDS900.1, CCDS30817.1 1p12 2011-07-01 2007-02-23 ENSG00000116874 ENSG00000116874 10352 6.1.1.2 Aminoacyl tRNA synthetases / Class I 12730 protein-coding gene gene with protein product tryptophan tRNA ligase 2, mitochondrial 604733 NA 10072595, 10828066 Standard NM_015836 NM_201263 NA Approved TrpRS uc001ehn.3 Q9UGM6 OTTHUMG00000012335 ENST00000235521.4:c.799G>C chr1.hg19:g.119575818C>G ENSP00000235521:p.Ala267Pro NA B1ALR1|B2R9D4|Q53FT4|Q5VUD2|Q86TQ0 hg19 CCDS900.1 0.02 20.976115 CAGxCGG COVERED 210 0.09615384615384616 55 0.11178861788617886 20 0.055248618784530384 105 0.18356643356643357 30 0.0395778364116095 C 11.94 1.789287 0.31685 0.103041 0.04314 ENSG00000116874 ENST00000235521;ENST00000537870 T;T 0.51071 0.72;0.72 5.87 4.88 0.63580 . 0.532643 0.21702 N 0.070403 T 0.20170 0.0485 N 0.04655 -0.195 0.80722 P 0.0 B;P 0.35527 0.355;0.507 B;B 0.43838 0.433;0.393 T 0.15321 -1.0441 9 0.48119 T 0.1 -3.8674 11.814 0.52199 0.1895:0.741:0.0:0.0695 rs3790549;rs3790549 210;267 B7Z6G7;Q9UGM6 .;SYWM_HUMAN P 267;173 ENSP00000235521:A267P;ENSP00000438807:A173P ENSP00000235521:A267P A - 1 0 WARS2 119377341 0.036000 0.19791 0.008000 0.14137 0.448000 0.32197 2.312000 0.43726 2.785000 0.95823 0.655000 0.94253 GCT NOVEL WARS2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000034362.1 3 35.457925 KEEP 0 0 0 118 4066 CC 1 1 0 - 32 60 1149 0 0 79.905672 433 60 15808 648 ENST00000235521.4 0.068817 1 HSD3B2 3284 __UNKNOWN__ __UNKNOWN__ 1 119965519 119965519 __UNKNOWN__ 3'UTR SNP C C T rs386635104|rs1819698|rs369148049 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:119965519C>T ENST00000543831.1 + 0 1644 HSD3B2_ENST00000369416.3_3'UTR NM_001166120.1 NP_001159592.1 P26439 3BHS2_HUMAN hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 NA NA androgen biosynthetic process (GO:0006702)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)|smooth endoplasmic reticulum membrane (GO:0030868) 3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769) breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1) 27 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836) Corticotropin(DB01285)|Medroxyprogesterone Acetate(DB00603)|Trilostane(DB01108) TGTGGTCTCTCTTAACTTGAG 0.378 NA T||| 1553 0.310104 0.5673 0.2277 5008 , , NA 21787 0.2351 NA 0.1133 False NA ,,, NA NA NA 2504 0.3006 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC038419 CCDS902.1 1p12 2014-06-03 ENSG00000203859 ENSG00000203859 3284 1.1.1.145, 5.3.3.1 Short chain dehydrogenase/reductase superfamily / Extended SDR fold 5218 protein-coding gene gene with protein product short chain dehydrogenase/reductase family 11E, member 2 613890 NA 1363812, 19027726 Standard NM_000198 NM_000198 NA Approved SDR11E2 uc001eht.3 P26439 OTTHUMG00000012526 ENST00000543831.1:c.*276C>T chr1.hg19:g.119965519C>T NA A2RRA5|Q16010|Q53GD4|Q6AI10|Q6LDB9|Q99890|Q9UD08 hg19 CCDS902.1 0.02 10.577274 TCTxTTA COVERED NOVEL HSD3B2-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000034994.1 2 8.72847 KEEP 0 0 0 29 1034 CC 0.999997 0.999997 0 + 8 60 294 0 0 17.736967 250 60 9480 335 ENST00000543831.1 0.031008 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 120013875 120013875 __UNKNOWN__ IGR SNP C C T rs2275609 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:120013875C>T NA NA HSD3B2 (48217 upstream) : HSD3B1 (35950 downstream) NA NA NA TGAACTTCAACGTGAAAGGTA 0.493 NA C||| 2124 0.424121 0.7269 0.3256 5008 , , NA 22464 0.2897 NA 0.2227 False NA ,,, NA NA NA 2504 0.4305 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.120013875C>T NA hg19 0.02 4.2351 CAAxGTG COVERED NOVEL 0 0 5.417591 KEEP 0 0 0 18 635 CC 0.999859 0.999859 0 5 60 190 0 0 12.184508 125 60 4419 190 0.038462 1 REG4 83998 __UNKNOWN__ __UNKNOWN__ 1 120344415 120344415 __UNKNOWN__ Intron SNP C C G rs6428844 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:120344415C>G ENST00000354219.1 - 4 605 REG4_ENST00000530654.1_Intron|REG4_ENST00000256585.5_Intron|REG4_ENST00000369401.4_3'UTR NM_001159352.1 NP_001152824.1 Q9BYZ8 REG4_HUMAN regenerating islet-derived family, member 4 NA NA cytoplasm (GO:0005737)|extracellular region (GO:0005576) heparin binding (GO:0008201)|mannan binding (GO:2001065) central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(2)|prostate(1)|skin(2) 15 all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219) all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959) Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588) CCTCTCTGCACCTTGGTCCTG 0.522 NA C||| 3068 0.61262 0.5242 0.7075 5008 , , NA 20864 0.8562 NA 0.5487 False NA ,,, NA NA NA 2504 0.4796 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY007243 CCDS906.1, CCDS53354.1 1p13.1-p12 2008-02-05 ENSG00000134193 ENSG00000134193 83998 22977 protein-coding gene gene with protein product regenerating gene type IV, gastrointestinal secretory protein 609846 NA 11311942, 12455032 Standard NM_032044 NM_032044 NA Approved REG-IV, RELP, GISP uc001eif.3 Q9BYZ8 OTTHUMG00000012175 ENST00000354219.1:c.165+1275G>C chr1.hg19:g.120344415C>G NA Q8NER6|Q8NER7 hg19 CCDS906.1 0.02 14.005281 GCAxCTT COVERED NOVEL REG4-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000033675.1 4 14.745615 KEEP 0 0 0 49 1713 CC 1 1 0 - 14 60 538 0 0 35.270681 319 60 11767 469 ENST00000354219.1 0.042042 1 NOTCH2 4853 __UNKNOWN__ __UNKNOWN__ 1 120611808 120611808 __UNKNOWN__ Intron SNP T T C rs2794168 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:120611808T>C ENST00000256646.2 - 1 293 NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 NA NA apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367) cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872) breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) TCCAAACTCTTGGGAACCCAG 0.751 NA N, F, Mis marginal zone lymphoma, DLBCL Alagille Syndrome NA NA NA NA NA NA NA NA NA Dom yes 1 1p13-p11 4853 Notch homolog 2 L 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database ALGS1, ALGS2.Alagille-Watson syndrome AF315356 CCDS908.1 1p13-p11 2013-01-10 2010-06-24 ENSG00000134250 ENSG00000134250 4853 Ankyrin repeat domain containing 7882 protein-coding gene gene with protein product 600275 Notch (Drosophila) homolog 2, Notch homolog 2 (Drosophila) NA 7698746 Standard NM_024408 NM_001200001 NA Approved uc001eik.3 Q04721 OTTHUMG00000012177 ENST00000256646.2:c.73+139A>G chr1.hg19:g.120611808T>C NA Q5T3X7|Q99734|Q9H240 hg19 CCDS908.1 0.02 3.836255 TCTxGGG COVERED . . . . . . . . . . t 7.275 0.607864 0.14002 . . ENSG00000134250 ENST00000538680 . . . 2.08 -1.96 0.07525 . . . . . T 0.16300 0.0392 . . . 0.09310 N 0.999996 . . . . . . T 0.35674 -0.9779 5 0.87932 D 0 . 2.8148 0.05453 0.0:0.4053:0.247:0.3478 . . . . R 88 . ENSP00000439516:Q88R Q - 2 0 NOTCH2 120413331 0.000000 0.05858 0.000000 0.03702 0.028000 0.11728 -2.137000 0.01304 -0.654000 0.05394 -0.788000 0.03338 CAA NOVEL NOTCH2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000033679.1 1 19.250157 KEEP 0 0 0 64 1891 TT 1 1 0 - 12 21 396 0 0 27.954584 118 60 4107 224 ENST00000256646.2 0.092308 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 120625896 120625896 __UNKNOWN__ IGR SNP G G C rs28516010 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:120625896G>C NA NA RP11-114O18.1 (6198 upstream) : RNU6-465P (43665 downstream) NA NA NA ggtattacaggtgtgagccac 0.468 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.120625896G>C NA hg19 0.02 -0.070187 CAGxTGT UNCOVERED NOVEL 0 1 3.31088 KEEP 0 0 0 11 396 GG 0.993072 0.053762 0 2 60 86 0 0 7.60055 6 60 224 30 0.25 0.054137 FCGR1B 2210 __UNKNOWN__ __UNKNOWN__ 1 120927081 120927081 __UNKNOWN__ 3'UTR SNP C C T rs76856338 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:120927081C>T ENST00000369384.4 - 0 941 RP11-439A17.10_ENST00000426275.1_RNA|RP11-439A17.9_ENST00000457996.1_RNA NM_001017986.3 NP_001017986.1 Q92637 FCGRB_HUMAN Fc fragment of IgG, high affinity Ib, receptor (CD64) NA NA antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|Fc receptor signaling pathway (GO:0038093)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333) clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) immunoglobulin receptor activity (GO:0019763) breast(1)|endometrium(1)|lung(2) 4 all_neural(166;0.181) all_lung(203;7.27e-05)|Lung NSC(69;0.000389)|all_epithelial(167;0.068) Lung(183;0.0327)|LUSC - Lung squamous cell carcinoma(189;0.19) Intravenous Immunoglobulin(DB00028) GCAGTGCTCACGGGGAGCAAG 0.537 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS72844.1, CCDS72845.1, CCDS72846.1 1p11.2 2013-01-11 2005-02-02 ENSG00000198019 ENSG00000198019 2210 Immunoglobulin superfamily / Immunoglobulin-like domain containing 3614 protein-coding gene gene with protein product 601502 Fc fragment of IgG, high affinity Ib, receptor for (CD64) NA 8697799, 9763663 Standard NM_001017986 NA Approved CD64b uc001eip.3 Q92637 OTTHUMG00000040903 ENST00000369384.4:c.*56G>A chr1.hg19:g.120927081C>T NA Q7KZ13|Q92638 hg19 CCDS30821.1 0.02 21.061885 TCAxGGG COVERED NOVEL FCGR1B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000098241.1 4 46.684469 KEEP 41 4 122 198 6808 CC 1 1 0 - 19 49 673 0 0 40.728917 519 50 18317 1014 ENST00000369384.4 0.035316 1 FCGR1B 2210 __UNKNOWN__ __UNKNOWN__ 1 120928637 120928637 __UNKNOWN__ Intron SNP G G A rs117569447 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:120928637G>A ENST00000369384.4 - 5 605 RP11-439A17.10_ENST00000426275.1_RNA|FCGR1B_ENST00000369383.4_Intron|RP11-439A17.9_ENST00000457996.1_RNA|FCGR1B_ENST00000472543.1_Intron NM_001017986.3 NP_001017986.1 Q92637 FCGRB_HUMAN Fc fragment of IgG, high affinity Ib, receptor (CD64) NA NA antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|Fc receptor signaling pathway (GO:0038093)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333) clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) immunoglobulin receptor activity (GO:0019763) breast(1)|endometrium(1)|lung(2) 4 all_neural(166;0.181) all_lung(203;7.27e-05)|Lung NSC(69;0.000389)|all_epithelial(167;0.068) Lung(183;0.0327)|LUSC - Lung squamous cell carcinoma(189;0.19) Intravenous Immunoglobulin(DB00028) GTTGATGGGGGACAGGGTTGC 0.498 NA G||| 430 0.0858626 0.0877 0.0922 5008 , , NA 19643 0.1915 NA 0.0109 False NA ,,, NA NA NA 2504 0.047 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS72844.1, CCDS72845.1, CCDS72846.1 1p11.2 2013-01-11 2005-02-02 ENSG00000198019 ENSG00000198019 2210 Immunoglobulin superfamily / Immunoglobulin-like domain containing 3614 protein-coding gene gene with protein product 601502 Fc fragment of IgG, high affinity Ib, receptor for (CD64) NA 8697799, 9763663 Standard NM_001017986 NA Approved CD64b uc001eip.3 Q92637 OTTHUMG00000040903 ENST00000369384.4:c.563-1220C>T chr1.hg19:g.120928637G>A NA Q7KZ13|Q92638 hg19 CCDS30821.1 0.02 4.085257 GGGxACA COVERED NOVEL FCGR1B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000098241.1 0 8.426796 KEEP 1 0 0 28 944 GG 0.999997 0.999992 0 - 5 60 176 0 0 11.097998 108 60 3989 152 ENST00000369384.4 0.044248 0.999995 RP11-343N15.1 0 __UNKNOWN__ __UNKNOWN__ 1 121115761 121115761 __UNKNOWN__ lincRNA SNP T T G rs28439812 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:121115761T>G ENST00000437515.1 - 0 329 NR_104189.1 NA NA NA GCTGAGTCTGTTAGTCTGTAA 0.493 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000437515.1: chr1.hg19:g.121115761T>G NA hg19 0.02 2.197831 CTGxTAG COVERED NOVEL RP11-343N15.1-002 KNOWN basic lincRNA NA lincRNA OTTHUMT00000098477.2 1 3.910243 KEEP 19 0 0 13 367 TT 0.992708 0.992544 0 - 17 49 627 0 0 51.871612 73 50 2536 132 ENST00000437515.1 0.188889 0.999835 RP11-343N15.1 0 __UNKNOWN__ __UNKNOWN__ 1 121116846 121116846 __UNKNOWN__ lincRNA SNP C C A rs368445474 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:121116846C>A ENST00000437515.1 - 0 329 NR_104189.1 NA NA NA GCCTGAGGGCCCCTCTTTTCT 0.448 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000437515.1: chr1.hg19:g.121116846C>A NA hg19 0.02 5.267608 GGCxCCT COVERED NOVEL RP11-343N15.1-002 KNOWN basic lincRNA NA lincRNA OTTHUMT00000098477.2 1 5.250894 KEEP 14 1 27 27 943 CC 0.999988 0.999988 0 - 8 40 260 0 0 15.80139 163 60 5889 251 ENST00000437515.1 0.046784 1 RP11-343N15.1 0 __UNKNOWN__ __UNKNOWN__ 1 121138209 121138209 __UNKNOWN__ lincRNA SNP C C T rs77841266 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:121138209C>T ENST00000437515.1 - 0 329 NR_104189.1 NA NA NA TTTTGCCCGCCGCGGATTTGT 0.726 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000437515.1: chr1.hg19:g.121138209C>T NA hg19 0.02 -0.140341 CGCxGCG COVERED NOVEL RP11-343N15.1-002 KNOWN basic lincRNA NA lincRNA OTTHUMT00000098477.2 6 4.213648 KEEP 1 0 0 14 485 CC 0.995343 0.25975 0 - 2 60 71 1 0 6.396086 4 60 122 39 ENST00000437515.1 0.333333 0.260965 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 121478627 121478627 __UNKNOWN__ IGR SNP G G A rs113599224 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:121478627G>A NA NA RP11-344P13.1 (156305 upstream) : None (None downstream) NA NA NA tgtttagataggtgagttttc 0.403 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.121478627G>A NA hg19 0.02 -0.175467 ATAxGTG UNCOVERED NOVEL 0 2 2.40778 KEEP 1 0 0 8 285 GG 0 0 0 3 49 109 0 0 9.071719 12 60 463 37 0.2 0.387407 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 121483309 121483309 __UNKNOWN__ IGR SNP C C G rs28857589 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:121483309C>G NA NA RP11-344P13.1 (160987 upstream) : None (None downstream) NA NA NA aaggaatgttcagctctgtga 0.418 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.121483309C>G NA hg19 0.02 2.041848 GTTxAGC COVERED NOVEL 0 23 5.554561 KEEP 20 1 36 31 1100 CC 0.999892 0.999514 0 6 60 226 0 0 17.08604 52 60 1996 178 0.103448 0.999622 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 121484092 121484092 __UNKNOWN__ IGR SNP G G A rs9793565|rs144250382 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:121484092G>A NA NA RP11-344P13.1 (161770 upstream) : None (None downstream) NA NA NA acttccttgtgttgtgtgtat 0.398 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.121484092G>A NA hg19 0.02 12.936287 TGTxTTG COVERED NOVEL 0 373 32.450391 KEEP 120 8 254 197 6987 GG 1 1 0 22 60 772 2 0 55.489395 226 60 8345 829 0.08871 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 121484140 121484140 __UNKNOWN__ IGR SNP G G T rs9701123|rs7414275 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:121484140G>T NA NA RP11-344P13.1 (161818 upstream) : None (None downstream) NA NA NA acacagagcagacttgaaaca 0.363 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.121484140G>T NA hg19 0.02 12.874565 GCAxACT COVERED NOVEL 0 366 43.402571 KEEP 105 5 153 198 7025 GG 1 1 0 13 27 466 1 0 30.698824 234 60 8776 845 0.052632 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 121485111 121485111 __UNKNOWN__ IGR SNP G G A rs4788276 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:121485111G>A NA NA RP11-344P13.1 (162789 upstream) : None (None downstream) NA NA NA acttccttgtgttgtgtgtat 0.408 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.121485111G>A NA hg19 0.02 39.455112 TGTxTTG COVERED NOVEL 0 246 163.864281 KEEP 59 22 650 773 27369 GG 1 1 0 22 50 778 1 0 47.982968 541 60 20162 1985 0.039076 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 121485120 121485120 __UNKNOWN__ IGR SNP A A T rs4092795 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:121485120A>T NA NA RP11-344P13.1 (162798 upstream) : None (None downstream) NA NA NA tgttgtgtgtattcaactcac 0.413 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.121485120A>T NA hg19 0.02 42.597352 TGTxTTC COVERED NOVEL 0 260 23.049818 KEEP 49 60 1812 714 21879 AA 1 1 0 26 60 949 0 0 61.297251 551 60 19816 1983 0.045061 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 121485137 121485137 __UNKNOWN__ IGR SNP G G C rs7414871|rs4115028 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:121485137G>C NA NA RP11-344P13.1 (162815 upstream) : None (None downstream) NA NA NA tcacagagttgaacgatcctt 0.408 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.121485137G>C NA hg19 0.02 44.662413 GTTxAAC COVERED NOVEL 0 255 102.753513 KEEP 33 35 1225 769 26747 GG 1 1 0 34 60 1269 0 0 87.826416 513 60 19317 1990 0.062157 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 121485318 121485318 __UNKNOWN__ IGR SNP T T G rs1138166|rs6600659 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:121485318T>G NA NA RP11-344P13.1 (162996 upstream) : None (None downstream) NA NA NA taacctttcttttcatagagc 0.388 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.121485318T>G NA hg19 0.02 43.738912 TCTxTTC COVERED NOVEL 0 274 85.918452 KEEP 29 42 1464 797 25053 TT 1 1 0 51 60 1874 0 1 140.178647 453 60 16240 1985 0.10119 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 142536715 142536715 __UNKNOWN__ IGR SNP T T C rs11578605 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:142536715T>C NA NA None (None upstream) : RP11-417J8.1 (16577 downstream) NA NA NA tagaatggaatggaatggaat 0.488 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.142536715T>C NA hg19 0.02 -0.193 GAAxGGA COVERED NOVEL 0 23 3.31029 KEEP 21 0 0 11 354 TT 0.99257 0.518282 0 3 60 93 0 1 9.75322 1 45 38 70 0.75 0.522161 RP11-417J8.2 0 __UNKNOWN__ __UNKNOWN__ 1 142582192 142582192 __UNKNOWN__ lincRNA SNP C C A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:142582192C>A ENST00000415979.2 - 0 167 NA NA NA gtaatcccagcactttgggag 0.458 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000415979.2: chr1.hg19:g.142582192C>A NA hg19 0.02 -0.131601 CAGxACT COVERED NOVEL RP11-417J8.2-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000037256.2 5 6.621866 KEEP 9 0 0 22 802 CC 0.99649 0.228369 0 - 3 40 109 0 0 9.843413 6 46 228 57 ENST00000415979.2 0.333333 0.229173 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 142598154 142598154 __UNKNOWN__ IGR SNP C C T rs75752593 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:142598154C>T NA NA RP11-417J8.2 (9921 upstream) : RP11-417J8.3 (20968 downstream) NA NA NA ccgaggtgggcagatcacaag 0.532 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.142598154C>T NA hg19 0.02 -0.210461 GGGxAGA COVERED NOVEL 0 2 2.640672 KEEP 8 1 29 19 665 CC 0.997832 0.521029 0 7 40 258 0 0 23.33467 14 50 531 68 0.333333 0.522161 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 142599534 142599534 __UNKNOWN__ IGR SNP G G A rs77901439 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:142599534G>A NA NA RP11-417J8.2 (11301 upstream) : RP11-417J8.3 (19588 downstream) NA NA NA ccacgctggagtgcagtggtg 0.512 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.142599534G>A NA hg19 0.02 -0.105258 GGAxTGC UNCOVERED NOVEL 0 5 4.815681 KEEP 6 0 0 16 570 GG 0.995343 0.139181 0 2 27 70 0 0 6.49348 3 60 98 40 0.4 0.139832 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 142601350 142601350 __UNKNOWN__ IGR SNP G G C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:142601350G>C NA NA RP11-417J8.2 (13117 upstream) : RP11-417J8.3 (17772 downstream) NA NA NA gcctcctaaagtgttgggatt 0.368 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.142601350G>C NA hg19 0.02 -0.280747 AAAxTGT UNCOVERED NOVEL 0 5 6.320716 KEEP 26 0 0 21 754 GG 0 0 0 7 49 270 0 0 23.629483 20 60 760 79 0.259259 0.739671 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 142601408 142601408 __UNKNOWN__ IGR SNP G G T rs199689392 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:142601408G>T NA NA RP11-417J8.2 (13175 upstream) : RP11-417J8.3 (17714 downstream) NA NA NA ttttagttatgttaaattaaa 0.408 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.142601408G>T NA hg19 0.02 -0.19301 TATxTTA UNCOVERED NOVEL 0 3 5.417444 KEEP 31 0 0 18 643 GG 0 0 0 4 40 143 0 0 12.180496 13 40 497 72 0.235294 0.457757 RP11-417J8.6 0 __UNKNOWN__ __UNKNOWN__ 1 142621035 142621035 __UNKNOWN__ lincRNA SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:142621035G>A ENST00000610091.1 - 0 6448 RP11-417J8.3_ENST00000426408.1_lincRNA NA NA NA GTTTCCAAGAGCAACAGGAAA 0.398 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000610091.1: chr1.hg19:g.142621035G>A NA hg19 0.02 16.26097 AGAxCAA COVERED NOVEL RP11-417J8.6-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000037265.2 2 23.383722 KEEP 32 3 86 108 4019 GG 1 1 0 - 15 49 518 0 0 31.189709 386 60 14584 825 ENST00000610091.1 0.037406 1 RP11-417J8.6 0 __UNKNOWN__ __UNKNOWN__ 1 142646216 142646216 __UNKNOWN__ lincRNA SNP G G A rs77802933 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:142646216G>A ENST00000610091.1 - 0 3560 RP11-417J8.3_ENST00000426408.1_lincRNA NA NA NA ggaggccgaggcgggaggatc 0.418 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000610091.1: chr1.hg19:g.142646216G>A NA hg19 0.02 -0.114041 GAGxCGG UNCOVERED NOVEL RP11-417J8.6-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000037265.2 4 3.310583 KEEP 3 0 0 11 390 GG 0.99257 0.16126 0 - 3 27 108 0 0 9.578679 7 60 244 34 ENST00000610091.1 0.3 0.162467 RP11-417J8.6 0 __UNKNOWN__ __UNKNOWN__ 1 142670882 142670882 __UNKNOWN__ lincRNA SNP G G A rs201597076 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:142670882G>A ENST00000610091.1 - 0 3560 NA NA NA TCCTGAAACAGTGCATCTCAC 0.478 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000610091.1: chr1.hg19:g.142670882G>A NA hg19 0.02 4.081813 ACAxTGC COVERED NOVEL RP11-417J8.6-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000037265.2 0 4.213475 KEEP 12 0 0 14 492 GG 0.995343 0.995316 0 - 6 25 218 0 0 14.755934 96 50 3589 148 ENST00000610091.1 0.058824 0.999973 RP11-417J8.6 0 __UNKNOWN__ __UNKNOWN__ 1 142693858 142693858 __UNKNOWN__ lincRNA SNP T T A rs201729656 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:142693858T>A ENST00000610091.1 - 0 3506 NA NA NA TTGATGATGCTTTTGTTTTCT 0.418 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000610091.1: chr1.hg19:g.142693858T>A NA hg19 0.02 4.589338 TGCxTTT COVERED NOVEL RP11-417J8.6-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000037265.2 2 3.443613 KEEP 76 1 27 21 660 TT 0.99254 0.992518 0 - 7 40 262 0 0 18.495385 94 40 3509 237 ENST00000610091.1 0.069307 0.999978 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 142782246 142782246 __UNKNOWN__ IGR SNP G G T rs201433865 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:142782246G>T NA NA RP11-417J8.6 (52279 upstream) : RP11-423O2.5 (20977 downstream) NA NA NA gccaagatgggcagatcacct 0.478 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.142782246G>T NA hg19 0.02 -0.175466 TGGxCAG COVERED NOVEL 0 3 3.912922 KEEP 4 0 0 13 472 GG 0.992708 0.42039 0 4 60 144 0 0 12.061981 15 60 587 46 0.210526 0.423478 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 142782395 142782395 __UNKNOWN__ IGR SNP T T C rs71223779 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:142782395T>C NA NA RP11-417J8.6 (52428 upstream) : RP11-423O2.5 (20828 downstream) NA NA NA atagcttgaatctgggagaca 0.458 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.142782395T>C NA hg19 0.02 -0.114047 GAAxCTG UNCOVERED NOVEL 0 4 3.911415 KEEP 1 0 0 13 404 TT 0.993634 0.161432 0 3 60 106 0 0 9.100855 9 60 330 35 0.25 0.162467 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 142799644 142799644 __UNKNOWN__ IGR SNP T T C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:142799644T>C NA NA RP11-417J8.6 (69677 upstream) : RP11-423O2.5 (3579 downstream) NA NA NA TTAGTGTCTGTGTGCTATGAA 0.458 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.142799644T>C NA hg19 0.02 9.41713 CTGxGTG COVERED NOVEL 0 0 4.74001 KEEP 16 5 98 51 1596 TT 1 1 0 12 24 387 0 0 23.053475 263 51 9826 435 0.043636 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 142799738 142799738 __UNKNOWN__ IGR SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:142799738C>T NA NA RP11-417J8.6 (69771 upstream) : RP11-423O2.5 (3485 downstream) NA NA NA CACCCATTGGCGgtttctata 0.468 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.142799738C>T NA hg19 0.02 2.142607 TGGxGGT UNCOVERED NOVEL 0 0 2.40645 KEEP 11 0 0 8 231 CC 0 0 0 7 46 260 0 0 18.844128 78 47 2516 108 0.082353 0.999622 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 142846326 142846326 __UNKNOWN__ IGR SNP T T A rs61816064 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:142846326T>A NA NA RP11-423O2.5 (30322 upstream) : RP11-423O2.7 (104658 downstream) NA NA NA TTCTCAGGGTTTCGGTAGAGA 0.408 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.142846326T>A NA hg19 0.02 2.03648 GGTxTCG COVERED NOVEL 0 1 6.018834 KEEP 50 0 0 20 655 TT 0.993072 0.993012 0 20 40 728 0 0 60.907712 77 40 2748 208 0.206186 0.99994 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 142862184 142862184 __UNKNOWN__ IGR SNP T T C rs200658098 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:142862184T>C NA NA RP11-423O2.5 (46180 upstream) : RP11-423O2.7 (88800 downstream) NA NA NA cttcccaaaatgctgcgatta 0.493 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.142862184T>C NA hg19 0.02 -0.175466 AAAxGCT UNCOVERED NOVEL 0 4 3.610431 KEEP 8 0 0 12 363 TT 0 0 0 6 49 230 0 0 20.886913 12 50 450 44 0.333333 0.387407 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 142862209 142862209 __UNKNOWN__ IGR SNP C C T rs142908691 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:142862209C>T NA NA RP11-423O2.5 (46205 upstream) : RP11-423O2.7 (88775 downstream) NA NA NA tgtgagccaccgtgcccagAC 0.532 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.142862209C>T NA hg19 0.02 -0.131582 CACxGTG UNCOVERED NOVEL 0 4 4.213651 KEEP 13 0 0 14 488 CC 0 0 0 4 40 150 0 0 13.424052 9 50 301 41 0.307692 0.229173 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 142868543 142868543 __UNKNOWN__ IGR SNP A A T rs376488336 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:142868543A>T NA NA RP11-423O2.5 (52539 upstream) : RP11-423O2.7 (82441 downstream) NA NA NA tcaagtgaggattggttgggc 0.478 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.142868543A>T NA hg19 0.02 -0.192904 AGGxTTG COVERED NOVEL 0 2 3.008874 KEEP 4 0 0 10 308 AA 0.99257 0.454356 0 3 48 95 0 0 7.193167 18 49 625 39 0.142857 0.457757 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 142868551 142868551 __UNKNOWN__ IGR SNP G G T rs146124370 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:142868551G>T NA NA RP11-423O2.5 (52547 upstream) : RP11-423O2.7 (82433 downstream) NA NA NA ggattggttgggcctgggagg 0.463 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.142868551G>T NA hg19 0.02 -0.210548 TTGxGCC COVERED NOVEL 0 2 2.708949 KEEP 3 0 0 9 329 GG 0.99257 0.518282 0 5 40 174 0 0 14.556063 18 50 643 47 0.217391 0.522161 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 142897727 142897727 __UNKNOWN__ IGR SNP C C T rs143752901 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:142897727C>T NA NA RP11-423O2.5 (81723 upstream) : RP11-423O2.7 (53257 downstream) NA NA NA ggccactgtgcagtcagattt 0.612 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.142897727C>T NA hg19 0.02 -0.438653 GTGxAGT COVERED NOVEL 0 1 2.408018 KEEP 3 0 0 8 298 CC 0.99257 0.952727 0 3 49 111 0 0 7.871389 38 50 1447 78 0.073171 0.959859 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 142909180 142909180 __UNKNOWN__ IGR SNP T T A rs143642592 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:142909180T>A NA NA RP11-423O2.5 (93176 upstream) : RP11-423O2.7 (41804 downstream) NA NA NA tggtggtgcatgcctattgtc 0.488 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.142909180T>A NA hg19 0.02 -0.184238 GCAxGCC UNCOVERED NOVEL 0 7 2.741814 KEEP 32 1 31 20 619 TT 0 0 0 5 40 185 0 0 16.130077 14 40 519 69 0.263158 0.423478 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 142911136 142911136 __UNKNOWN__ IGR SNP G G A rs139912514|rs4108386 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:142911136G>A NA NA RP11-423O2.5 (95132 upstream) : RP11-423O2.7 (39848 downstream) NA NA NA tgagattacaggcttgtgcca 0.532 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.142911136G>A NA hg19 0.02 -0.307061 ACAxGCT COVERED NOVEL 0 6 5.116721 KEEP 3 0 0 17 610 GG 0.99649 0.797437 0 6 49 222 0 0 18.267994 27 50 986 61 0.181818 0.800245 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 142917375 142917375 __UNKNOWN__ IGR SNP G G A rs74824407 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:142917375G>A NA NA RP11-423O2.5 (101371 upstream) : RP11-423O2.7 (33609 downstream) NA NA NA catgttgggcgccaggaatgt 0.498 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.142917375G>A NA hg19 0.02 1.898262 GGCxCCA UNCOVERED NOVEL 0 0 2.407212 KEEP 8 0 0 8 249 GG 0 0 0 18 60 653 0 0 56.822565 50 60 1632 112 0.264706 0.999835 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 142917381 142917381 __UNKNOWN__ IGR SNP A A C rs111601455 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:142917381A>C NA NA RP11-423O2.5 (101377 upstream) : RP11-423O2.7 (33603 downstream) NA NA NA gggcgccaggaatgttggggt 0.502 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.142917381A>C NA hg19 0.02 2.145263 AGGxATG COVERED NOVEL 0 0 2.70846 KEEP 9 0 0 9 290 AA 0.99257 0.992501 0 6 54 215 0 0 15.322674 68 60 2376 121 0.081081 0.99993 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 142917431 142917431 __UNKNOWN__ IGR SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:142917431G>A NA NA RP11-423O2.5 (101427 upstream) : RP11-423O2.7 (33553 downstream) NA NA NA gatgaagtccggcagagtcaa 0.537 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.142917431G>A NA hg19 0.02 4.393132 TCCxGCA COVERED NOVEL 0 2 6.018335 KEEP 43 0 0 20 661 GG 0.992708 0.992702 0 5 40 187 0 0 12.581348 90 48 2999 174 0.052632 0.999995 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 142917549 142917549 __UNKNOWN__ IGR SNP G G C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:142917549G>C NA NA RP11-423O2.5 (101545 upstream) : RP11-423O2.7 (33435 downstream) NA NA NA atttgttggtgctcaaacaaa 0.483 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.142917549G>C NA hg19 0.02 8.98027 GGTxCTC COVERED NOVEL 0 2 9.740479 KEEP 187 3 105 69 2495 GG 0.999997 0.999997 0 7 27 256 0 0 16.076608 174 50 6554 573 0.038674 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 142917634 142917634 __UNKNOWN__ IGR SNP C C T rs140450108 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:142917634C>T NA NA RP11-423O2.5 (101630 upstream) : RP11-423O2.7 (33350 downstream) NA NA NA ggccctgcctcagcttctctt 0.448 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.142917634C>T NA hg19 0.02 6.059094 CCTxAGC COVERED NOVEL 0 1 8.728482 KEEP 26 0 0 29 1039 CC 0.999957 0.999957 0 7 27 257 0 0 16.617937 150 57 5667 253 0.044586 1 RP11-423O2.7 0 __UNKNOWN__ __UNKNOWN__ 1 142953687 142953687 __UNKNOWN__ lincRNA SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:142953687G>A ENST00000424640.2 - 0 203 NA NA NA ggaggccgaggcgggaggatc 0.438 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000424640.2: chr1.hg19:g.142953687G>A NA hg19 0.02 -0.228099 GAGxCGG COVERED NOVEL RP11-423O2.7-001 KNOWN not_best_in_genome_evidence|basic lincRNA NA lincRNA OTTHUMT00000193207.2 3 3.611858 KEEP 2 0 0 12 432 GG 0.993634 0.579219 0 - 4 49 137 0 0 10.913181 20 60 765 59 ENST00000424640.2 0.166667 0.58293 RP11-782C8.2 0 __UNKNOWN__ __UNKNOWN__ 1 143119078 143119078 __UNKNOWN__ lincRNA SNP T T C rs201036514 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:143119078T>C ENST00000412204.2 - 0 5409 RP11-782C8.1_ENST00000438000.1_lincRNA NA NA NA TCCAGTGTCCTCTGGGTGTTT 0.418 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000412204.2: chr1.hg19:g.143119078T>C NA hg19 0.02 22.077479 TCCxCTG COVERED NOVEL RP11-782C8.2-004 KNOWN basic lincRNA NA lincRNA OTTHUMT00000037567.2 5 15.269496 KEEP 283 12 431 201 6520 TT 1 1 0 - 44 46 1623 0 0 123.945349 340 48 12588 1260 ENST00000412204.2 0.114583 1 RP11-782C8.2 0 __UNKNOWN__ __UNKNOWN__ 1 143146692 143146692 __UNKNOWN__ lincRNA SNP C C A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:143146692C>A ENST00000412204.2 - 0 2503 RP11-782C8.1_ENST00000438000.1_lincRNA NA NA NA agtgaaaccccgtttctacta 0.537 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000412204.2: chr1.hg19:g.143146692C>A NA hg19 0.02 -0.219319 CCCxGTT UNCOVERED NOVEL RP11-782C8.2-004 KNOWN basic lincRNA NA lincRNA OTTHUMT00000037567.2 4 2.707805 KEEP 3 0 0 9 289 CC 0 0 0 - 2 25 78 0 0 6.33061 11 48 372 37 ENST00000412204.2 0.153846 0.552887 RP11-782C8.2 0 __UNKNOWN__ __UNKNOWN__ 1 143185508 143185508 __UNKNOWN__ lincRNA SNP A A C rs112449031 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:143185508A>C ENST00000412204.2 - 0 2503 RP11-782C8.1_ENST00000438000.1_lincRNA NA NA NA ATCCACATACACAAGGAAGCT 0.557 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000412204.2: chr1.hg19:g.143185508A>C NA hg19 0.02 -0.210539 TACxCAA UNCOVERED NOVEL RP11-782C8.2-004 KNOWN basic lincRNA NA lincRNA OTTHUMT00000037567.2 0 2.406337 KEEP 15 0 0 8 229 AA 0 0 0 - 5 40 180 0 0 15.052264 19 40 658 48 ENST00000412204.2 0.208333 0.522161 RP11-782C8.2 0 __UNKNOWN__ __UNKNOWN__ 1 143189125 143189125 __UNKNOWN__ lincRNA SNP G G A rs201126579 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:143189125G>A ENST00000412204.2 - 0 2503 RP11-782C8.1_ENST00000438000.1_lincRNA|RP11-782C8.3_ENST00000425124.1_lincRNA NA NA NA TGATGACTTGGTTGTTTAAAC 0.333 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000412204.2: chr1.hg19:g.143189125G>A NA hg19 0.02 4.040988 TTGxTTG COVERED NOVEL RP11-782C8.2-004 KNOWN basic lincRNA NA lincRNA OTTHUMT00000037567.2 7 9.330082 KEEP 29 0 0 31 1098 GG 0.999931 0.999929 0 - 6 24 221 0 0 14.733831 109 54 4028 229 ENST00000412204.2 0.052174 0.999998 RP11-782C8.2 0 __UNKNOWN__ __UNKNOWN__ 1 143189128 143189128 __UNKNOWN__ lincRNA SNP G G A rs202058739 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:143189128G>A ENST00000412204.2 - 0 2503 RP11-782C8.1_ENST00000438000.1_lincRNA|RP11-782C8.3_ENST00000425124.1_lincRNA NA NA NA TGACTTGGTTGTTTAAACAGC 0.333 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000412204.2: chr1.hg19:g.143189128G>A NA hg19 0.02 4.349081 GTTxTTT COVERED NOVEL RP11-782C8.2-004 KNOWN basic lincRNA NA lincRNA OTTHUMT00000037567.2 7 9.330211 KEEP 29 0 0 31 1112 GG 0.999931 0.999929 0 - 10 25 369 0 0 26.918382 105 50 4060 229 ENST00000412204.2 0.086957 0.999998 RP11-782C8.2 0 __UNKNOWN__ __UNKNOWN__ 1 143189180 143189180 __UNKNOWN__ lincRNA SNP G G T rs200239537 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:143189180G>T ENST00000412204.2 - 0 2503 RP11-782C8.1_ENST00000438000.1_lincRNA|RP11-782C8.3_ENST00000425124.1_lincRNA NA NA NA CAATAATACTGGTTTTCATTT 0.299 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000412204.2: chr1.hg19:g.143189180G>T NA hg19 0.02 2.027672 ACTxGTT COVERED NOVEL RP11-782C8.2-004 KNOWN basic lincRNA NA lincRNA OTTHUMT00000037567.2 1 8.125587 KEEP 31 0 0 27 907 GG 0.99986 0.999808 0 - 9 25 336 0 0 24.882128 88 40 3323 189 ENST00000412204.2 0.092784 0.999948 RP11-782C8.2 0 __UNKNOWN__ __UNKNOWN__ 1 143193459 143193459 __UNKNOWN__ lincRNA SNP C C T rs61784897 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:143193459C>T ENST00000412204.2 - 0 2449 RP11-782C8.1_ENST00000438000.1_lincRNA NA NA NA Gggccgggtgcggtggctcat 0.542 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000412204.2: chr1.hg19:g.143193459C>T NA hg19 0.02 -0.14025 GTGxGGT COVERED NOVEL RP11-782C8.2-004 KNOWN basic lincRNA NA lincRNA OTTHUMT00000037567.2 11 3.343973 KEEP 13 1 28 21 715 CC 0.993072 0.289978 0 - 4 24 115 0 0 9.770668 10 47 346 47 ENST00000412204.2 0.285714 0.292001 RP11-782C8.2 0 __UNKNOWN__ __UNKNOWN__ 1 143203892 143203892 __UNKNOWN__ lincRNA SNP G G A rs61785366 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:143203892G>A ENST00000412204.2 - 0 1791 RP11-782C8.1_ENST00000438000.1_lincRNA NA NA NA aagaacacatggactcgggga 0.463 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000412204.2: chr1.hg19:g.143203892G>A NA hg19 0.02 -0.166697 CATxGAC COVERED NOVEL RP11-782C8.2-004 KNOWN basic lincRNA NA lincRNA OTTHUMT00000037567.2 2 2.708976 KEEP 6 0 0 9 330 GG 0.99257 0.351317 0 - 5 24 189 0 0 16.969828 11 40 446 46 ENST00000412204.2 0.3125 0.353947 RP11-782C8.1 0 __UNKNOWN__ __UNKNOWN__ 1 143217939 143217939 __UNKNOWN__ lincRNA SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:143217939G>A ENST00000438000.1 + 0 59 NA NA NA cagcactttggaaggccaaaa 0.398 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000438000.1: chr1.hg19:g.143217939G>A NA hg19 0.02 -0.157921 TTGxAAG COVERED NOVEL RP11-782C8.1-002 KNOWN basic lincRNA NA lincRNA OTTHUMT00000037560.1 0 2.407932 KEEP 1 0 0 8 287 GG 0.99257 0.320408 0 + 4 23 153 0 0 13.067768 14 45 531 36 ENST00000438000.1 0.222222 0.322807 RP11-782C8.1 0 __UNKNOWN__ __UNKNOWN__ 1 143217983 143217983 __UNKNOWN__ lincRNA SNP C C A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:143217983C>A ENST00000438000.1 + 0 59 NA NA NA agtttaagaccagcctgggaa 0.443 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000438000.1: chr1.hg19:g.143217983C>A NA hg19 0.02 -0.122783 GACxAGC COVERED NOVEL RP11-782C8.1-002 KNOWN basic lincRNA NA lincRNA OTTHUMT00000037560.1 1 2.708902 KEEP 2 0 0 9 327 CC 0.99257 0.194853 0 + 4 23 143 0 0 12.571788 10 45 360 32 ENST00000438000.1 0.285714 0.196312 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 143264709 143264709 __UNKNOWN__ IGR SNP C C A rs200822184 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:143264709C>A NA NA RP11-782C8.1 (31292 upstream) : RP11-435B5.3 (83260 downstream) NA NA NA gtggttcatgcccataatccc 0.438 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.143264709C>A NA hg19 0.02 -0.254394 ATGxCCA COVERED NOVEL 0 4 3.145775 KEEP 12 1 33 22 783 CC 0.999879 0.668442 0 3 27 105 0 0 7.791908 25 50 889 74 0.107143 0.668523 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 143281800 143281800 __UNKNOWN__ IGR SNP T T C rs201505228 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:143281800T>C NA NA RP11-782C8.1 (48383 upstream) : RP11-435B5.3 (66169 downstream) NA NA NA aaacagctactgcatgctggg 0.473 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.143281800T>C NA hg19 0.02 6.557893 TACxGCA COVERED NOVEL 0 8 12.834986 KEEP 138 3 104 79 2391 TT 1 1 0 6 36 215 0 0 13.649977 132 40 4964 439 0.043478 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 143281872 143281872 __UNKNOWN__ IGR SNP G G C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:143281872G>C NA NA RP11-782C8.1 (48455 upstream) : RP11-435B5.3 (66097 downstream) NA NA NA gtttaccttagtaacaaatct 0.418 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.143281872G>C NA hg19 0.02 9.567245 TTAxTAA COVERED NOVEL 0 7 7.93267 KEEP 59 3 111 65 2346 GG 1 1 0 9 40 330 0 0 21.609661 183 60 6905 411 0.046875 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 143283226 143283226 __UNKNOWN__ IGR SNP G G C rs147197560 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:143283226G>C NA NA RP11-782C8.1 (49809 upstream) : RP11-435B5.3 (64743 downstream) NA NA NA TCAGCGGCCGGAGCGTTTGGC 0.592 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.143283226G>C NA hg19 0.02 4.865337 CCGxAGC COVERED NOVEL 0 4 10.83418 KEEP 56 0 0 36 1235 GG 0.999997 0.999997 0 16 43 558 0 0 42.109177 122 44 4439 276 0.115942 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 143283676 143283676 __UNKNOWN__ IGR SNP C C G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:143283676C>G NA NA RP11-782C8.1 (50259 upstream) : RP11-435B5.3 (64293 downstream) NA NA NA ACCAGGGATCCGGAGCTACCA 0.592 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.143283676C>G NA hg19 0.02 5.992701 ATCxGGA COVERED NOVEL 0 1 3.310264 KEEP 23 0 0 11 367 CC 0.99254 0.99254 0 9 45 296 0 0 19.122601 141 60 5069 260 0.06 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 143283782 143283782 __UNKNOWN__ IGR SNP T T C rs12119922 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:143283782T>C NA NA RP11-782C8.1 (50365 upstream) : RP11-435B5.3 (64187 downstream) NA NA NA GGGCAATCAATGAAGCCATTG 0.527 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.143283782T>C NA hg19 0.02 6.552871 CAAxGAA COVERED NOVEL 0 3 2.708059 KEEP 11 0 0 9 281 TT 0.99257 0.99257 0 10 49 334 0 0 21.996974 148 50 5405 257 0.063291 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 143283801 143283801 __UNKNOWN__ IGR SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:143283801C>T NA NA RP11-782C8.1 (50384 upstream) : RP11-435B5.3 (64168 downstream) NA NA NA TGGGCTCTCCCGTGTCCTCCT 0.552 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.143283801C>T NA hg19 0.02 7.161129 TCCxGTG COVERED NOVEL 0 3 2.708464 KEEP 13 0 0 9 304 CC 0.99254 0.99254 0 6 24 219 0 0 13.944532 138 50 4672 256 0.041667 1 RP11-435B5.3 0 __UNKNOWN__ __UNKNOWN__ 1 143352810 143352810 __UNKNOWN__ lincRNA SNP C C T rs139996532 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:143352810C>T ENST00000430699.1 + 0 177 NA NA NA atccacccacctttgcctccc 0.423 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000430699.1: chr1.hg19:g.143352810C>T NA hg19 0.02 -0.096503 CACxTTT UNCOVERED NOVEL RP11-435B5.3-003 KNOWN not_best_in_genome_evidence|basic lincRNA NA lincRNA OTTHUMT00000037544.1 3 3.310829 KEEP 13 0 0 11 395 CC 0 0 0 + 7 25 272 0 0 27.407751 4 36 153 40 ENST00000430699.1 0.636364 0.120436 RP11-435B5.5 0 __UNKNOWN__ __UNKNOWN__ 1 143392573 143392573 __UNKNOWN__ lincRNA SNP G G A rs377213722 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:143392573G>A ENST00000428624.1 + 0 2196 RP11-435B5.4_ENST00000423249.1_lincRNA NA NA NA CTTATGAAGAGGTTACAACTG 0.323 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000428624.1: chr1.hg19:g.143392573G>A NA hg19 0.02 4.88171 AGAxGTT COVERED NOVEL RP11-435B5.5-002 KNOWN not_best_in_genome_evidence|basic lincRNA NA lincRNA OTTHUMT00000037971.1 0 10.835157 KEEP 25 0 0 36 1276 GG 0.999998 0.999998 0 + 10 47 386 0 0 27.860173 126 60 4747 247 ENST00000428624.1 0.073529 1 RP11-435B5.4 0 __UNKNOWN__ __UNKNOWN__ 1 143403499 143403499 __UNKNOWN__ lincRNA SNP A A C rs201058279 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:143403499A>C ENST00000423249.1 - 0 59 NA NA NA AACATGTGGCAGAAGGGAAGA 0.488 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000423249.1: chr1.hg19:g.143403499A>C NA hg19 0.02 -0.438664 GGCxGAA COVERED NOVEL RP11-435B5.4-002 KNOWN not_best_in_genome_evidence|basic lincRNA NA lincRNA OTTHUMT00000037552.1 0 2.397994 KEEP 4 0 0 8 241 AA 0.99257 0.952727 0 - 5 49 178 0 0 13.641405 35 50 1319 72 ENST00000423249.1 0.125 0.959859 RP11-435B5.4 0 __UNKNOWN__ __UNKNOWN__ 1 143420710 143420710 __UNKNOWN__ lincRNA SNP G G T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:143420710G>T ENST00000423249.1 - 0 59 NA NA NA GTTCACACATGGTAGGCGATA 0.383 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000423249.1: chr1.hg19:g.143420710G>T NA hg19 0.02 1.654837 CATxGTA COVERED NOVEL RP11-435B5.4-002 KNOWN not_best_in_genome_evidence|basic lincRNA NA lincRNA OTTHUMT00000037552.1 1 3.31064 KEEP 6 0 0 11 393 GG 0.992708 0.992627 0 - 4 25 146 0 0 9.308552 91 50 3352 130 ENST00000423249.1 0.042105 0.999919 RP11-435B5.4 0 __UNKNOWN__ __UNKNOWN__ 1 143447662 143447662 __UNKNOWN__ lincRNA SNP A A G rs143375433 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:143447662A>G ENST00000423249.1 - 0 59 NA NA NA aaatagtaaaactctgtctct 0.458 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000423249.1: chr1.hg19:g.143447662A>G NA hg19 0.02 -0.087728 AAAxCTC UNCOVERED NOVEL RP11-435B5.4-002 KNOWN not_best_in_genome_evidence|basic lincRNA NA lincRNA OTTHUMT00000037552.1 2 2.705968 KEEP 4 0 0 9 255 AA 0 0 0 - 2 40 76 0 0 6.381199 8 60 272 24 ENST00000423249.1 0.2 0.099721 RP11-435B5.4 0 __UNKNOWN__ __UNKNOWN__ 1 143451439 143451439 __UNKNOWN__ lincRNA SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:143451439G>A ENST00000423249.1 - 0 59 NA NA NA ctgagattacgagcataagcc 0.413 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000423249.1: chr1.hg19:g.143451439G>A NA hg19 0.02 -0.412288 TACxAGC COVERED NOVEL RP11-435B5.4-002 KNOWN not_best_in_genome_evidence|basic lincRNA NA lincRNA OTTHUMT00000037552.1 5 2.341753 KEEP 3 1 29 18 615 GG 0.99986 0.941609 0 - 5 55 194 0 0 15.02109 39 60 1374 89 ENST00000423249.1 0.113636 0.941741 RP11-435B5.4 0 __UNKNOWN__ __UNKNOWN__ 1 143460106 143460106 __UNKNOWN__ lincRNA SNP C C G rs6694366 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:143460106C>G ENST00000423249.1 - 0 59 NA NA NA ccttccacttcggcctcccaa 0.443 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000423249.1: chr1.hg19:g.143460106C>G NA hg19 0.02 -0.114053 CTTxGGC UNCOVERED NOVEL RP11-435B5.4-002 KNOWN not_best_in_genome_evidence|basic lincRNA NA lincRNA OTTHUMT00000037552.1 2 2.708802 KEEP 0 0 0 9 312 CC 0.99254 0.161255 0 - 5 60 197 0 0 18.545963 7 60 270 30 ENST00000423249.1 0.416667 0.162467 RP11-435B5.4 0 __UNKNOWN__ __UNKNOWN__ 1 143460208 143460208 __UNKNOWN__ lincRNA SNP T T A rs6702260 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:143460208T>A ENST00000423249.1 - 0 59 NA NA NA ttacctgttttgtttgttttg 0.463 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000423249.1: chr1.hg19:g.143460208T>A NA hg19 0.02 -0.140371 TTTxGTT COVERED NOVEL RP11-435B5.4-002 KNOWN not_best_in_genome_evidence|basic lincRNA NA lincRNA OTTHUMT00000037552.1 3 5.415032 KEEP 2 0 0 18 534 TT 0.999859 0.260928 0 - 3 49 113 0 0 9.57243 11 60 398 44 ENST00000423249.1 0.214286 0.260965 RP11-435B5.4 0 __UNKNOWN__ __UNKNOWN__ 1 143460231 143460231 __UNKNOWN__ lincRNA SNP G G A rs6422525 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:143460231G>A ENST00000423249.1 - 0 59 NA NA NA acagagtttcgctcttgtcac 0.468 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000423249.1: chr1.hg19:g.143460231G>A NA hg19 0.02 -0.140265 TTCxCTC COVERED NOVEL RP11-435B5.4-002 KNOWN not_best_in_genome_evidence|basic lincRNA NA lincRNA OTTHUMT00000037552.1 3 5.395743 KEEP 1 0 0 18 568 GG 0.999859 0.260928 0 - 4 60 144 0 0 12.82594 9 60 290 45 ENST00000423249.1 0.307692 0.260965 RP11-435B5.4 0 __UNKNOWN__ __UNKNOWN__ 1 143460331 143460331 __UNKNOWN__ lincRNA SNP G G C rs370501777 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:143460331G>C ENST00000423249.1 - 0 59 NA NA NA ctcccaagtagctgggattac 0.502 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000423249.1: chr1.hg19:g.143460331G>C NA hg19 0.02 -0.131602 GTAxCTG COVERED NOVEL RP11-435B5.4-002 KNOWN not_best_in_genome_evidence|basic lincRNA NA lincRNA OTTHUMT00000037552.1 3 5.090546 KEEP 2 0 0 17 597 GG 0.99649 0.228369 0 - 4 60 148 0 0 13.577014 7 60 278 43 ENST00000423249.1 0.363636 0.229173 RP11-435B5.4 0 __UNKNOWN__ __UNKNOWN__ 1 143460847 143460847 __UNKNOWN__ lincRNA SNP G G C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:143460847G>C ENST00000423249.1 - 0 59 NA NA NA gggaggctgaggccggtggat 0.507 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000423249.1: chr1.hg19:g.143460847G>C NA hg19 0.02 -0.157921 TGAxGCC UNCOVERED NOVEL RP11-435B5.4-002 KNOWN not_best_in_genome_evidence|basic lincRNA NA lincRNA OTTHUMT00000037552.1 6 3.612053 KEEP 10 0 0 12 455 GG 0 0 0 - 2 25 81 0 0 6.436338 14 48 536 47 ENST00000423249.1 0.125 0.322807 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 143468212 143468212 __UNKNOWN__ IGR SNP G G A rs199925365 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:143468212G>A NA NA RP11-435B5.4 (2774 upstream) : RP11-435B5.6 (30131 downstream) NA NA NA ctcgtgatccgccctcctagg 0.502 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.143468212G>A NA hg19 0.02 -0.245588 TCCxCCC COVERED NOVEL 0 2 3.346448 KEEP 13 1 34 23 817 GG 0.999859 0.641257 0 4 27 127 0 0 9.998687 19 48 712 86 0.173913 0.641347 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 143468264 143468264 __UNKNOWN__ IGR SNP C C T rs369086740 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:143468264C>T NA NA RP11-435B5.4 (2826 upstream) : RP11-435B5.6 (30079 downstream) NA NA NA ccaccgcgcccagccCTCAAG 0.428 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.143468264C>T NA hg19 0.02 -0.298295 GCCxAGC COVERED NOVEL 0 4 2.377829 KEEP 10 2 63 30 1084 CC 0.999997 0.781058 0 4 47 142 0 0 10.993136 26 50 1003 94 0.133333 0.78106 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 143468266 143468266 __UNKNOWN__ IGR SNP G G T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:143468266G>T NA NA RP11-435B5.4 (2828 upstream) : RP11-435B5.6 (30077 downstream) NA NA NA accgcgcccagccCTCAAGTC 0.428 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.143468266G>T NA hg19 0.02 -0.289521 CCAxCCC COVERED NOVEL 0 4 5.553841 KEEP 9 1 33 30 1096 GG 0.999997 0.760885 0 3 47 108 0 0 8.043201 26 50 992 92 0.103448 0.760887 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 143470253 143470253 __UNKNOWN__ IGR SNP C C T rs6662122 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:143470253C>T NA NA RP11-435B5.4 (4815 upstream) : RP11-435B5.6 (28090 downstream) NA NA NA tttgggaggccgagttgggtg 0.473 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.143470253C>T NA hg19 0.02 -0.219302 GGCxGAG COVERED NOVEL 0 8 2.54178 KEEP 5 1 30 19 632 CC 0.999859 0.55281 0 3 47 102 0 0 8.033314 16 50 570 60 0.157895 0.552887 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 143485177 143485177 __UNKNOWN__ IGR SNP C C A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:143485177C>A NA NA RP11-435B5.4 (19739 upstream) : RP11-435B5.6 (13166 downstream) NA NA NA taattaacagctacatgggag 0.478 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.143485177C>A NA hg19 0.02 -0.184238 CAGxTAC COVERED NOVEL 0 2 2.708895 KEEP 3 0 0 9 329 CC 0.99254 0.420319 0 3 40 108 0 0 8.560156 17 60 628 37 0.15 0.423478 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 143485940 143485940 __UNKNOWN__ IGR SNP C C T rs148985647 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:143485940C>T NA NA RP11-435B5.4 (20502 upstream) : RP11-435B5.6 (12403 downstream) NA NA NA tggtgcatgcctattgtccca 0.488 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.143485940C>T NA hg19 0.02 2.0912 TGCxTAT COVERED NOVEL 0 13 8.054198 KEEP 26 1 32 38 1354 CC 0.999892 0.995579 0 8 40 299 0 0 24.095542 43 50 1608 141 0.156863 0.995687 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 143485945 143485945 __UNKNOWN__ IGR SNP G G A rs1712090 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:143485945G>A NA NA RP11-435B5.4 (20507 upstream) : RP11-435B5.6 (12398 downstream) NA NA NA catgcctattgtcccagctac 0.493 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.143485945G>A NA hg19 0.02 2.117532 ATTxTCC COVERED NOVEL 0 13 3.681915 KEEP 25 2 65 35 1254 GG 0.999879 0.993582 0 6 27 222 0 0 17.209499 42 50 1615 135 0.125 0.993703 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 143486020 143486020 __UNKNOWN__ IGR SNP C C T rs151176824 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:143486020C>T NA NA RP11-435B5.4 (20582 upstream) : RP11-435B5.6 (12323 downstream) NA NA NA agctatgatcccactactgca 0.453 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.143486020C>T NA hg19 0.02 -0.254424 ATCxCAC UNCOVERED NOVEL 0 3 4.213443 KEEP 25 0 0 14 491 CC 0 0 0 4 27 153 0 0 12.593633 19 40 695 63 0.173913 0.668523 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 143494113 143494113 __UNKNOWN__ IGR SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:143494113G>A NA NA RP11-435B5.4 (28675 upstream) : RP11-435B5.6 (4230 downstream) NA NA NA cccaagctctgggagcccacg 0.493 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.143494113G>A NA hg19 0.02 4.458892 TCTxGGA COVERED NOVEL 0 2 2.378104 KEEP 22 2 63 30 1105 GG 0.999931 0.999931 0 9 49 344 0 0 24.020339 137 60 5345 265 0.061644 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 143536833 143536833 __UNKNOWN__ IGR SNP G G A rs61823459 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:143536833G>A NA NA RP11-435B5.7 (3561 upstream) : RNVU1-1 (110180 downstream) NA NA NA acgaaagttagctgggcatgg 0.532 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.143536833G>A NA hg19 0.02 -0.263197 TTAxCTG COVERED NOVEL 0 5 6.922721 KEEP 0 0 0 23 832 GG 0.999892 0.693593 0 3 60 107 1 0 8.972475 11 60 410 60 0.214286 0.693668 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 144530345 144530345 __UNKNOWN__ IGR SNP T T G rs2174761 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:144530345T>G NA NA RP11-640M9.1 (8375 upstream) : RNU1-59P (3692 downstream) NA NA NA gtgcctgtagtcccagctgct 0.527 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.144530345T>G NA hg19 0.02 -0.061412 TAGxCCC UNCOVERED NOVEL 0 2 2.407346 KEEP 1 0 0 8 251 TT 0 0 0 3 60 107 0 0 10.055182 4 60 146 19 0.428571 0.043787 RP11-640M9.2 0 __UNKNOWN__ __UNKNOWN__ 1 144596054 144596054 __UNKNOWN__ RNA SNP T T C rs150927942 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:144596054T>C ENST00000419820.1 + 0 439 NA NA NA aggtgagacatctgcctcggc 0.443 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000419820.1: chr1.hg19:g.144596054T>C NA hg19 0.02 -0.166689 ACAxCTG COVERED NOVEL RP11-640M9.2-011 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000038365.1 0 2.708152 KEEP 1 0 0 9 285 TT 0.99254 0.351306 0 + 3 49 107 0 0 8.77836 13 60 472 42 ENST00000419820.1 0.1875 0.353947 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 144621587 144621587 __UNKNOWN__ IGR SNP A A G rs75868191 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:144621587A>G NA NA RP11-640M9.2 (15696 upstream) : NBPF9 (190156 downstream) NA NA NA ACAGCAGTTCAGAAACCTCAA 0.468 NA .||| 268 0.0535144 0.0 0.0519 5008 , , NA 6151 0.0863 NA 0.0199 False NA ,,, NA NA NA 2504 0.1278 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.144621587A>G NA hg19 0.02 -0.18424 TTCxGAA COVERED NOVEL 0 0 3.912362 KEEP 18 0 0 13 425 AA 0.99254 0.420319 0 6 60 213 0 0 18.706342 15 53 588 70 0.285714 0.423478 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 144621588 144621588 __UNKNOWN__ IGR SNP G G T rs76836025 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:144621588G>T NA NA RP11-640M9.2 (15697 upstream) : NBPF9 (190155 downstream) NA NA NA CAGCAGTTCAGAAACCTCAAA 0.468 NA .||| 268 0.0535144 0.0 0.0519 5008 , , NA 6076 0.0863 NA 0.0199 False NA ,,, NA NA NA 2504 0.1278 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.144621588G>T NA hg19 0.02 -0.184228 TCAxAAA COVERED NOVEL 0 0 3.912877 KEEP 18 0 0 13 484 GG 0.99254 0.420319 0 6 49 202 0 0 17.756316 14 53 558 70 0.3 0.423478 NBPF9 400818 __UNKNOWN__ __UNKNOWN__ 1 144828845 144828845 __UNKNOWN__ 3'UTR SNP A A T rs61807990 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:144828845A>T ENST00000468645.1 + 0 2188 NBPF9_ENST00000440491.2_3'UTR|NBPF9_ENST00000338347.4_3'UTR|NBPF9_ENST00000281815.8_3'UTR Q3BBW0 NBPF9_HUMAN neuroblastoma breakpoint family, member 9 NA NA cytoplasm (GO:0005737) NS(2)|prostate(1) 3 GCACGTGAAGATTTGAATGAA 0.488 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS72895.1, CCDS72896.1 1q21.1 2013-01-17 ENSG00000168614 ENSG00000269713 400818 neuroblastoma breakpoint family 31991 protein-coding gene gene with protein product 613999 NA 16079250 Standard NM_001037675 NM_001037675 NA Approved AE01 Q3BBW0 OTTHUMG00000013845 ENST00000468645.1:c.*2185A>T chr1.hg19:g.144828845A>T NA hg19 0.02 4.374597 AAGxTTT COVERED NOVEL NBPF9-002 KNOWN not_best_in_genome_evidence|basic processed_transcript NA protein_coding OTTHUMT00000038846.1 1 7.822479 KEEP 10 0 0 26 821 AA 0.999931 0.999931 0 + 32 60 1129 0 0 97.173738 94 60 3414 210 ENST00000468645.1 0.253968 1 NBPF9 400818 __UNKNOWN__ __UNKNOWN__ 1 144828857 144828857 __UNKNOWN__ 3'UTR SNP C C G rs201893749 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:144828857C>G ENST00000468645.1 + 0 2200 NBPF9_ENST00000440491.2_3'UTR|NBPF9_ENST00000338347.4_3'UTR|NBPF9_ENST00000281815.8_3'UTR Q3BBW0 NBPF9_HUMAN neuroblastoma breakpoint family, member 9 NA NA cytoplasm (GO:0005737) NS(2)|prostate(1) 3 TTGAATGAAACTACAGTTCCA 0.483 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS72895.1, CCDS72896.1 1q21.1 2013-01-17 ENSG00000168614 ENSG00000269713 400818 neuroblastoma breakpoint family 31991 protein-coding gene gene with protein product 613999 NA 16079250 Standard NM_001037675 NM_001037675 NA Approved AE01 Q3BBW0 OTTHUMG00000013845 ENST00000468645.1:c.*2197C>G chr1.hg19:g.144828857C>G NA hg19 0.02 4.772877 AAAxTAC COVERED NOVEL NBPF9-002 KNOWN not_best_in_genome_evidence|basic processed_transcript NA protein_coding OTTHUMT00000038846.1 1 7.825421 KEEP 11 0 0 26 927 CC 0.999931 0.999931 0 + 32 60 1166 0 0 100.119918 100 60 3780 208 ENST00000468645.1 0.242424 1 NBPF9 400818 __UNKNOWN__ __UNKNOWN__ 1 144829559 144829559 __UNKNOWN__ 3'UTR SNP C C G rs199859714 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:144829559C>G ENST00000468645.1 + 0 2902 NBPF9_ENST00000440491.2_3'UTR|NBPF9_ENST00000338347.4_3'UTR|NBPF9_ENST00000281815.8_3'UTR Q3BBW0 NBPF9_HUMAN neuroblastoma breakpoint family, member 9 NA NA cytoplasm (GO:0005737) NS(2)|prostate(1) 3 AGGAGGTAATCACCAGACAAC 0.468 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS72895.1, CCDS72896.1 1q21.1 2013-01-17 ENSG00000168614 ENSG00000269713 400818 neuroblastoma breakpoint family 31991 protein-coding gene gene with protein product 613999 NA 16079250 Standard NM_001037675 NM_001037675 NA Approved AE01 Q3BBW0 OTTHUMG00000013845 ENST00000468645.1:c.*2899C>G chr1.hg19:g.144829559C>G NA hg19 0.02 -0.236873 AATxACC COVERED NOVEL NBPF9-002 KNOWN not_best_in_genome_evidence|basic processed_transcript NA protein_coding OTTHUMT00000038846.1 0 3.309976 KEEP 25 0 0 11 354 CC 0.992708 0.607941 0 + 4 42 156 0 0 12.590052 23 44 842 64 ENST00000468645.1 0.148148 0.612407 PDE4DIP 9659 __UNKNOWN__ __UNKNOWN__ 1 144851484 144851484 __UNKNOWN__ 3'UTR SNP A A G rs8947 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:144851484A>G ENST00000369356.4 - 0 8249 PDE4DIP_ENST00000313382.9_3'UTR|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369354.3_3'UTR NM_001198834.2|NM_014644.4 NP_001185763|NP_055459.5 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein NA NA cellular protein complex assembly (GO:0043623) centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634) enzyme binding (GO:0019899) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) CACCAAAAAGACTTTCATTTT 0.333 NA T PDGFRB MPD NA NA NA NA NA NA NA NA NA Dom yes 1 1q12 9659 phosphodiesterase 4D interacting protein (myomegalin) L 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB007923, AB007946 CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1 1q21.1 2008-07-31 2008-07-31 ENSG00000178104 ENSG00000178104 9659 15580 protein-coding gene gene with protein product myomegalin 608117 cardiomyopathy associated 2 CMYA2 NA 9455484, 11134006 Standard NM_022359 NM_022359 NA Approved KIAA0477, KIAA0454, MMGL uc021ouh.1 Q5VU43 OTTHUMG00000013846 ENST00000369356.4:c.*870T>C chr1.hg19:g.144851484A>G NA A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5 hg19 CCDS55627.1 0.02 14.930952 AAGxCTT COVERED NOVEL PDE4DIP-002 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000038857.2 4 15.648837 KEEP 4 0 0 52 1691 AA 1 1 0 - 11 60 402 0 0 24.230768 339 60 12180 489 ENST00000369356.4 0.031429 1 PDE4DIP 9659 __UNKNOWN__ __UNKNOWN__ 1 144875979 144875979 __UNKNOWN__ Silent SNP G G C rs71664005 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:144875979G>C ENST00000530740.1 - 32 5147 c.5109C>G c.(5107-5109)ctC>ctG p.L1703L PDE4DIP_ENST00000369356.4_Silent_p.L1567L|PDE4DIP_ENST00000313382.9_Silent_p.L1523L|PDE4DIP_ENST00000369359.4_Silent_p.L1703L|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369354.3_Silent_p.L1567L|RP4-791M13.5_ENST00000531288.1_RNA Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 1567 NA cellular protein complex assembly (GO:0043623) centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634) enzyme binding (GO:0019899) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TGAATTACCTGAGGGCCAGTG 0.468 NA T PDGFRB MPD NA NA NA NA NA NA NA NA NA Dom yes 1 1q12 9659 phosphodiesterase 4D interacting protein (myomegalin) L 0 G ,, 210,4196 0,210,1993 224 225 225 4569,4701,4701 4.2 1 1 dbSNP_130 225 1462,7130 0,1462,2834 no coding-synonymous,coding-synonymous,coding-synonymous PDE4DIP NM_001198832.1,NM_001198834.2,NM_014644.4 ,, 0,1672,4827 CC,CG,GG 17.0158,4.7662,12.8635 ,, 1523/2241,1567/2363,1567/2347 144875979 1672,11326 2203 4296 6499 SO:0001819 synonymous_variant AB007923, AB007946 CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1 1q21.1 2008-07-31 2008-07-31 ENSG00000178104 ENSG00000178104 9659 15580 protein-coding gene gene with protein product myomegalin 608117 cardiomyopathy associated 2 CMYA2 NA 9455484, 11134006 Standard NM_022359 NM_022359 NA Approved KIAA0477, KIAA0454, MMGL uc021ouh.1 Q5VU43 OTTHUMG00000013846 ENST00000530740.1:c.5109C>G chr1.hg19:g.144875979G>C NA A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5 hg19 0.02 9.826401 CCTxAGG COVERED NOVEL PDE4DIP-036 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000384663.2 1 7.460173 KEEP 0 1 35 37 1318 GG 1 1 0 - 8 60 309 0 0 19.469857 234 60 9018 356 ENST00000530740.1 0.033058 1 PDE4DIP 9659 __UNKNOWN__ __UNKNOWN__ 1 144891147 144891147 __UNKNOWN__ Intron SNP T T C rs76879485 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:144891147T>C ENST00000530740.1 - 25 3354 PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000369349.3_3'UTR|PDE4DIP_ENST00000524974.1_Intron|PDE4DIP_ENST00000313431.9_3'UTR|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000369351.3_3'UTR Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein NA NA cellular protein complex assembly (GO:0043623) centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634) enzyme binding (GO:0019899) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) CCCACAGTCATTATAACCATC 0.423 NA T PDGFRB MPD NA NA NA NA NA NA NA NA NA Dom yes 1 1q12 9659 phosphodiesterase 4D interacting protein (myomegalin) L 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB007923, AB007946 CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1 1q21.1 2008-07-31 2008-07-31 ENSG00000178104 ENSG00000178104 9659 15580 protein-coding gene gene with protein product myomegalin 608117 cardiomyopathy associated 2 CMYA2 NA 9455484, 11134006 Standard NM_022359 NM_022359 NA Approved KIAA0477, KIAA0454, MMGL uc021ouh.1 Q5VU43 OTTHUMG00000013846 ENST00000530740.1:c.3315+1353A>G chr1.hg19:g.144891147T>C NA A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5 hg19 0.02 25.434437 TCAxTAT COVERED NOVEL PDE4DIP-036 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000384663.2 4 12.873414 KEEP 1 1 20 50 1639 TT 1 1 0 - 15 60 587 1 0 35.847886 546 60 19569 634 ENST00000530740.1 0.026738 1 PDE4DIP 9659 __UNKNOWN__ __UNKNOWN__ 1 144891480 144891480 __UNKNOWN__ Intron SNP C C T rs74979964 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:144891480C>T ENST00000530740.1 - 25 3354 PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000369349.3_3'UTR|PDE4DIP_ENST00000524974.1_Intron|PDE4DIP_ENST00000313431.9_3'UTR|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000369351.3_3'UTR Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein NA NA cellular protein complex assembly (GO:0043623) centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634) enzyme binding (GO:0019899) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) GAGAATATGACGTATCCCAGA 0.418 NA T PDGFRB MPD NA NA NA NA NA NA NA NA NA Dom yes 1 1q12 9659 phosphodiesterase 4D interacting protein (myomegalin) L 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB007923, AB007946 CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1 1q21.1 2008-07-31 2008-07-31 ENSG00000178104 ENSG00000178104 9659 15580 protein-coding gene gene with protein product myomegalin 608117 cardiomyopathy associated 2 CMYA2 NA 9455484, 11134006 Standard NM_022359 NM_022359 NA Approved KIAA0477, KIAA0454, MMGL uc021ouh.1 Q5VU43 OTTHUMG00000013846 ENST00000530740.1:c.3315+1020G>A chr1.hg19:g.144891480C>T NA A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5 hg19 0.02 6.437172 TGAxGTA COVERED NOVEL PDE4DIP-036 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000384663.2 4 3.611374 KEEP 0 0 0 12 403 CC 0.993634 0.993634 0 - 7 60 253 0 0 15.900542 167 60 5870 191 ENST00000530740.1 0.04023 1 PDE4DIP 9659 __UNKNOWN__ __UNKNOWN__ 1 144906508 144906508 __UNKNOWN__ Missense_Mutation SNP C C T rs34169189 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:144906508C>T ENST00000530740.1 - 21 2798 c.2760G>A c.(2758-2760)atG>atA p.M920I PDE4DIP_ENST00000369356.4_Missense_Mutation_p.M783I|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.M849I|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.M920I|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.M783I|PDE4DIP_ENST00000524974.1_Intron|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.M570I|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.M946I|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.M946I|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.M783I|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.M783I Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 783 NA cellular protein complex assembly (GO:0043623) centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634) enzyme binding (GO:0019899) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) CCTGCACAGCCATCATGGACT 0.418 NA T PDGFRB MPD C||| 467 0.0932508 0.0227 0.1974 5008 , , NA 20695 0.0268 NA 0.1342 False NA ,,, NA NA NA 2504 0.1411 NA NA NA Dom yes 1 1q12 9659 phosphodiesterase 4D interacting protein (myomegalin) L 0 C ILE/MET,ILE/MET,ILE/MET,ILE/MET,ILE/MET 179,4227 111.2+/-149.4 6,167,2030 92 92 92 2349,2349,2547,2349,2838 2 1 1 dbSNP_126 92 1266,7320 243.8+/-273.2 80,1106,3107 yes missense,missense,missense,missense,missense PDE4DIP NM_014644.4,NM_001198834.2,NM_001198832.1,NM_001002812.1,NM_001002811.1 10,10,10,10,10 86,1273,5137 TT,TC,CC 14.7449,4.0626,11.1222 benign,benign,benign,benign,benign 783/2347,783/2363,849/2241,783/970,946/1133 144906508 1445,11547 2203 4293 6496 SO:0001583 missense AB007923, AB007946 CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1 1q21.1 2008-07-31 2008-07-31 ENSG00000178104 ENSG00000178104 9659 15580 protein-coding gene gene with protein product myomegalin 608117 cardiomyopathy associated 2 CMYA2 NA 9455484, 11134006 Standard NM_022359 NM_022359 NA Approved KIAA0477, KIAA0454, MMGL uc021ouh.1 Q5VU43 OTTHUMG00000013846 ENST00000530740.1:c.2760G>A chr1.hg19:g.144906508C>T ENSP00000435654:p.Met920Ile NA A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5 hg19 0.02 12.650636 AGCxATC COVERED 187 0.08562271062271062 10 0.02032520325203252 67 0.1850828729281768 13 0.022727272727272728 97 0.1279683377308707 C 10.64 1.407063 0.25378 0.040626 0.147449 ENSG00000178104 ENST00000313382;ENST00000369354;ENST00000369356;ENST00000369353;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000313431;ENST00000529945;ENST00000479408 T;T;T;T;T;T;T;T;T;T 0.10860 4.85;4.94;4.94;4.94;4.94;3.93;3.94;2.86;2.85;2.83 6.07 1.96 0.26148 . . . . . T 0.01124 0.0037 N 0.12182 0.205 0.09310 P 0.9999999999993228 B;B;B;B;B 0.18461 0.0;0.0;0.0;0.028;0.0 B;B;B;B;B 0.13407 0.001;0.0;0.001;0.009;0.0 T 0.47018 -0.9149 8 0.06099 T 0.92 . 3.6148 0.08073 0.1196:0.5183:0.2102:0.1519 rs34169189 946;783;946;849;783 E9PL24;Q5VU43-7;Q5VU43-2;Q5VU43-3;Q5VU43 .;.;.;.;MYOME_HUMAN I 849;783;783;946;920;920;783;783;946;946;570 ENSP00000327209:M849I;ENSP00000358360:M783I;ENSP00000358363:M783I;ENSP00000435654:M920I;ENSP00000358366:M920I;ENSP00000358357:M783I;ENSP00000358355:M783I;ENSP00000316434:M946I;ENSP00000433392:M946I;ENSP00000436791:M570I ENSP00000327209:M849I M - 3 0 PDE4DIP 143617865 0.689000 0.27690 1.000000 0.80357 0.965000 0.64279 -0.084000 0.11268 0.929000 0.37192 0.638000 0.83543 ATG NOVEL PDE4DIP-036 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000384663.2 2 18.059028 KEEP 4 0 0 60 2139 CC 1 1 0 - 12 60 418 0 0 25.257663 316 60 12110 485 ENST00000530740.1 0.036585 1 PDE4DIP 9659 __UNKNOWN__ __UNKNOWN__ 1 144921924 144921924 __UNKNOWN__ Silent SNP G G A rs71664015 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:144921924G>A ENST00000530740.1 - 12 1554 c.1516C>T c.(1516-1518)Ctg>Ttg p.L506L PDE4DIP_ENST00000369356.4_Silent_p.L369L|PDE4DIP_ENST00000313382.9_Silent_p.L435L|PDE4DIP_ENST00000369359.4_Silent_p.L506L|PDE4DIP_ENST00000369349.3_Silent_p.L369L|PDE4DIP_ENST00000479408.2_Silent_p.L156L|PDE4DIP_ENST00000529945.1_Silent_p.L532L|PDE4DIP_ENST00000313431.9_Silent_p.L532L|PDE4DIP_ENST00000369354.3_Silent_p.L369L|PDE4DIP_ENST00000369351.3_Silent_p.L369L Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 369 NA cellular protein complex assembly (GO:0043623) centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634) enzyme binding (GO:0019899) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) GCATCAGCCAGTTGGCGCTCT 0.463 NA T PDGFRB MPD NA NA NA NA NA NA NA NA NA Dom yes 1 1q12 9659 phosphodiesterase 4D interacting protein (myomegalin) L 0 G ,,,, 203,4203 0,203,2000 375 388 384 1594,1105,1303,1105,1105 5.8 1 1 dbSNP_130 384 1431,7161 0,1431,2865 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous PDE4DIP NM_001002811.1,NM_001002812.1,NM_001198832.1,NM_001198834.2,NM_014644.4 ,,,, 0,1634,4865 AA,AG,GG 16.655,4.6074,12.5712 ,,,, 532/1133,369/970,435/2241,369/2363,369/2347 144921924 1634,11364 2203 4296 6499 SO:0001819 synonymous_variant AB007923, AB007946 CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1 1q21.1 2008-07-31 2008-07-31 ENSG00000178104 ENSG00000178104 9659 15580 protein-coding gene gene with protein product myomegalin 608117 cardiomyopathy associated 2 CMYA2 NA 9455484, 11134006 Standard NM_022359 NM_022359 NA Approved KIAA0477, KIAA0454, MMGL uc021ouh.1 Q5VU43 OTTHUMG00000013846 ENST00000530740.1:c.1516C>T chr1.hg19:g.144921924G>A NA A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5 hg19 0.02 28.778739 CCAxTTG COVERED NOVEL PDE4DIP-036 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000384663.2 2 32.539614 KEEP 0 1 22 116 4145 GG 1 1 0 - 20 60 747 0 0 45.37848 637 60 23994 905 ENST00000530740.1 0.030441 1 PDE4DIP 9659 __UNKNOWN__ __UNKNOWN__ 1 145014104 145014104 __UNKNOWN__ Silent SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:145014104G>A ENST00000493130.2 - 4 599 c.438C>T c.(436-438)ggC>ggT p.G146G PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000369348.3_Intron|PDE4DIP_ENST00000530740.1_Intron Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 2026 NA cellular protein complex assembly (GO:0043623) centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634) enzyme binding (GO:0019899) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) AGGCTGGCTGGCCTTTGGAGA 0.458 NA T PDGFRB MPD NA NA NA NA NA NA NA NA NA Dom yes 1 1q12 9659 phosphodiesterase 4D interacting protein (myomegalin) L 0 NA NA NA NA NA NA NA NA NA NA SO:0001819 synonymous_variant AB007923, AB007946 CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1 1q21.1 2008-07-31 2008-07-31 ENSG00000178104 ENSG00000178104 9659 15580 protein-coding gene gene with protein product myomegalin 608117 cardiomyopathy associated 2 CMYA2 NA 9455484, 11134006 Standard NM_022359 NM_022359 NA Approved KIAA0477, KIAA0454, MMGL uc021ouh.1 Q5VU43 OTTHUMG00000013846 ENST00000493130.2:c.438C>T chr1.hg19:g.145014104G>A NA A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5 hg19 0.02 8.511881 CTGxCCT COVERED NOVEL PDE4DIP-027 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000099618.2 2 2.946016 KEEP 0 4 123 53 1777 GG 1 1 0 - 21 60 759 0 0 56.087178 194 60 6516 309 ENST00000493130.2 0.097674 1 PDE4DIP 9659 __UNKNOWN__ __UNKNOWN__ 1 145015582 145015582 __UNKNOWN__ Intron SNP G G A rs2799194 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:145015582G>A ENST00000530740.1 - 3 480 PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000493130.2_Intron|PDE4DIP_ENST00000369348.3_Intron Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein NA NA cellular protein complex assembly (GO:0043623) centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634) enzyme binding (GO:0019899) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) tcctaagtatgtatgtataga 0.323 NA T PDGFRB MPD G||| 1866 0.372604 0.3154 0.3588 5008 , , NA 68338 0.4593 NA 0.3708 False NA ,,, NA NA NA 2504 0.3722 NA NA NA Dom yes 1 1q12 9659 phosphodiesterase 4D interacting protein (myomegalin) L 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB007923, AB007946 CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1 1q21.1 2008-07-31 2008-07-31 ENSG00000178104 ENSG00000178104 9659 15580 protein-coding gene gene with protein product myomegalin 608117 cardiomyopathy associated 2 CMYA2 NA 9455484, 11134006 Standard NM_022359 NM_022359 NA Approved KIAA0477, KIAA0454, MMGL uc021ouh.1 Q5VU43 OTTHUMG00000013846 ENST00000530740.1:c.441+277C>T chr1.hg19:g.145015582G>A NA A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5 hg19 0.02 8.175448 TATxTAT COVERED NOVEL PDE4DIP-036 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000384663.2 5 8.162037 KEEP 0 1 34 39 1362 GG 1 1 0 - 21 60 733 0 0 53.546855 192 60 7160 284 ENST00000530740.1 0.098592 1 PDE4DIP 9659 __UNKNOWN__ __UNKNOWN__ 1 145015601 145015601 __UNKNOWN__ Intron SNP T T G rs2762801 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:145015601T>G ENST00000530740.1 - 3 480 PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000493130.2_Intron|PDE4DIP_ENST00000369348.3_Intron Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein NA NA cellular protein complex assembly (GO:0043623) centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634) enzyme binding (GO:0019899) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) gaaaaagacatagtaaatata 0.358 NA T PDGFRB MPD T||| 1889 0.377196 0.3215 0.3732 5008 , , NA 68298 0.4623 NA 0.3767 False NA ,,, NA NA NA 2504 0.3681 NA NA NA Dom yes 1 1q12 9659 phosphodiesterase 4D interacting protein (myomegalin) L 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB007923, AB007946 CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1 1q21.1 2008-07-31 2008-07-31 ENSG00000178104 ENSG00000178104 9659 15580 protein-coding gene gene with protein product myomegalin 608117 cardiomyopathy associated 2 CMYA2 NA 9455484, 11134006 Standard NM_022359 NM_022359 NA Approved KIAA0477, KIAA0454, MMGL uc021ouh.1 Q5VU43 OTTHUMG00000013846 ENST00000530740.1:c.441+258A>C chr1.hg19:g.145015601T>G NA A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5 hg19 0.02 14.567707 ACAxAGT COVERED NOVEL PDE4DIP-036 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000384663.2 5 5.416919 KEEP 0 3 106 55 1627 TT 1 1 0 - 31 60 1191 0 0 90.553782 270 60 9796 416 ENST00000530740.1 0.10299 1 PDE4DIP 9659 __UNKNOWN__ __UNKNOWN__ 1 145057700 145057700 __UNKNOWN__ Intron SNP T T C rs199677835 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:145057700T>C ENST00000530740.1 - 1 272 PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000369348.3_Intron Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein NA NA cellular protein complex assembly (GO:0043623) centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634) enzyme binding (GO:0019899) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) ctgtcggaggtgaggcaggca 0.493 NA T PDGFRB MPD NA NA NA NA NA NA NA NA NA Dom yes 1 1q12 9659 phosphodiesterase 4D interacting protein (myomegalin) L 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB007923, AB007946 CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1 1q21.1 2008-07-31 2008-07-31 ENSG00000178104 ENSG00000178104 9659 15580 protein-coding gene gene with protein product myomegalin 608117 cardiomyopathy associated 2 CMYA2 NA 9455484, 11134006 Standard NM_022359 NM_022359 NA Approved KIAA0477, KIAA0454, MMGL uc021ouh.1 Q5VU43 OTTHUMG00000013846 ENST00000530740.1:c.233+17929A>G chr1.hg19:g.145057700T>C NA A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5 hg19 0.02 -0.140357 AGGxGAG COVERED NOVEL PDE4DIP-036 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000384663.2 1 2.707867 KEEP 0 0 0 9 276 TT 0.99254 0.259018 0 - 3 60 94 0 0 7.47887 13 60 448 33 ENST00000530740.1 0.1875 0.260965 SEC22B 9554 __UNKNOWN__ __UNKNOWN__ 1 145109184 145109184 __UNKNOWN__ RNA SNP C C T rs7553746 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:145109184C>T ENST00000453618.1 + 0 512 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) NA NA ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) NA gctcgggaggctgaggcagga 0.582 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AF047442 1q21.1 2012-04-20 2010-03-12 2006-04-25 ENSG00000223380 9554 10700 protein-coding gene gene with protein product 604029 SEC22, vesicle trafficking protein (S. cerevisiae)-like 1, SEC22 vesicle trafficking protein-like 1 (S. cerevisiae), SEC22 vesicle trafficking protein homolog B (S. cerevisiae) SEC22L1 NA 9094723, 16354670 Standard NM_004892 NM_004892 NA Approved sec22b, ERS-24 uc031poa.1 O75396 OTTHUMG00000013745 ENST00000453618.1: chr1.hg19:g.145109184C>T NA A8K1G0 hg19 0.02 -0.113312 AGGxTGA UNCOVERED NOVEL SEC22B-001 KNOWN basic processed_transcript NA processed_transcript OTTHUMT00000038523.5 4 2.407953 KEEP 0 0 0 8 291 CC 0.99257 0.16126 0 + 5 60 166 0 0 15.245339 8 60 278 27 ENST00000453618.1 0.384615 0.162467 RP11-458D21.5 0 __UNKNOWN__ __UNKNOWN__ 1 145209666 145209666 __UNKNOWN__ Intron SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:145209666C>T ENST00000468030.1 + 1 292 NOTCH2NL_ENST00000362074.6_Intron|NOTCH2NL_ENST00000344859.3_Intron NA NA NA CGCCAACCGCCGGGGTTCCCC 0.731 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000468030.1:c.-45+230C>T chr1.hg19:g.145209666C>T NA hg19 0.02 9.059321 CGCxGGG COVERED NOVEL RP11-458D21.5-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000038553.9 2 27.14816 KEEP 2 5 150 143 4762 CC 1 1 0 + 15 49 544 0 0 37.603398 211 70 7511 414 ENST00000468030.1 0.066372 1 RP11-458D21.5 0 __UNKNOWN__ __UNKNOWN__ 1 145230129 145230129 __UNKNOWN__ Intron SNP G G A rs1137318 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:145230129G>A ENST00000468030.1 + 2 292 NOTCH2NL_ENST00000362074.6_Intron|NOTCH2NL_ENST00000369340.3_Intron|NOTCH2NL_ENST00000344859.3_Intron NA NA NA ccaggagtttgagactaacct 0.512 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000468030.1:c.-44-18684G>A chr1.hg19:g.145230129G>A NA hg19 0.02 -0.245651 TTTxAGA COVERED NOVEL RP11-458D21.5-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000038553.9 9 4.28182 KEEP 17 2 59 35 1201 GG 0.999957 0.64132 0 + 5 60 176 0 0 14.280366 23 60 869 85 ENST00000468030.1 0.178571 0.641347 RP11-458D21.5 0 __UNKNOWN__ __UNKNOWN__ 1 145267045 145267045 __UNKNOWN__ Intron SNP C C T rs61813201 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:145267045C>T ENST00000468030.1 + 3 374 NOTCH2NL_ENST00000362074.6_Intron|NOTCH2NL_ENST00000369340.3_Intron|NOTCH2NL_ENST00000344859.3_Intron NA NA NA cgcgcctggcctagctgtaaa 0.463 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000468030.1:c.39-6140C>T chr1.hg19:g.145267045C>T NA hg19 0.02 -0.157921 GGCxTAG COVERED NOVEL RP11-458D21.5-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000038553.9 6 5.426787 KEEP 1 1 37 31 1074 CC 0.999997 0.322806 0 + 4 60 139 0 0 11.667794 14 60 552 68 ENST00000468030.1 0.222222 0.322807 RP11-458D21.5 0 __UNKNOWN__ __UNKNOWN__ 1 145289484 145289484 __UNKNOWN__ Intron SNP A A G rs61306380 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:145289484A>G ENST00000468030.1 + 5 970 NOTCH2NL_ENST00000344859.3_Intron NA NA NA gtctccatgaaaaataaaaaa 0.468 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000468030.1:c.635-3630A>G chr1.hg19:g.145289484A>G NA hg19 0.02 -0.140371 TGAxAAA COVERED NOVEL RP11-458D21.5-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000038553.9 1 3.308007 KEEP 0 0 0 11 321 AA 0.993072 0.259157 0 + 4 47 153 0 0 13.301149 12 60 431 37 ENST00000468030.1 0.25 0.260965 RP11-458D21.5 0 __UNKNOWN__ __UNKNOWN__ 1 145290409 145290409 __UNKNOWN__ Intron SNP G G A rs77693292 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:145290409G>A ENST00000468030.1 + 5 970 NBPF10_ENST00000369339.3_Intron|NOTCH2NL_ENST00000344859.3_Intron NA NA NA TATAAATTAAGTTTACCTCTT 0.413 NA NA NA NA NA NA NA NA NA NA NA 0 253 258 256 NA NA 1 NA 145290409 876 1991 2867 SO:0001627 intron_variant NA NA NA NA ENST00000468030.1:c.635-2705G>A chr1.hg19:g.145290409G>A NA hg19 0.02 40.604687 TAAxTTT COVERED NOVEL RP11-458D21.5-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000038553.9 3 4.02125 KEEP 5 6 181 77 2683 GG 1 1 0 + 64 49 2177 0 0 148.539326 821 60 30613 1084 ENST00000468030.1 0.072316 1 RP11-458D21.5 0 __UNKNOWN__ __UNKNOWN__ 1 145290583 145290583 __UNKNOWN__ Intron SNP G G C rs75464601 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:145290583G>C ENST00000468030.1 + 5 970 NOTCH2NL_ENST00000479995.2_Intron|NBPF10_ENST00000369339.3_Intron|NOTCH2NL_ENST00000344859.3_Intron NA NA NA GGTTCTTTCAGTTTCAGGACA 0.403 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000468030.1:c.635-2531G>C chr1.hg19:g.145290583G>C NA hg19 0.02 49.788895 TCAxTTT COVERED NOVEL RP11-458D21.5-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000038553.9 6 58.045431 KEEP 10 18 649 419 15257 GG 1 1 0 + 57 60 2249 0 0 159.322215 862 60 32730 1670 ENST00000468030.1 0.062024 1 RP11-458D21.5 0 __UNKNOWN__ __UNKNOWN__ 1 145301697 145301697 __UNKNOWN__ Intron SNP C C T rs61814640 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:145301697C>T ENST00000468030.1 + 12 2148 NBPF10_ENST00000342960.5_Intron|NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron NA NA NA TCCACTGAGGCAGGTGTGTCT 0.502 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000468030.1:c.715-23C>T chr1.hg19:g.145301697C>T NA hg19 0.02 -0.166688 AGGxAGG COVERED NOVEL RP11-458D21.5-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000038553.9 0 4.213411 KEEP 2 0 0 14 479 CC 0.994391 0.351961 0 + 3 60 100 0 0 7.83317 16 60 604 38 ENST00000468030.1 0.157895 0.353947 NBPF10 100132406 __UNKNOWN__ __UNKNOWN__ 1 145323614 145323614 __UNKNOWN__ Intron SNP A A G rs372962463 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:145323614A>G ENST00000369339.3 + 10 1293 NBPF10_ENST00000342960.5_Intron|NBPF10_ENST00000369338.1_Intron Q6P3W6 NBPFA_HUMAN neuroblastoma breakpoint family, member 10 NA NA cytoplasm (GO:0005737) poly(A) RNA binding (GO:0044822) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) GTGTAGGTGAATTGGCTTATT 0.473 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC021111 1q21.1 2013-01-17 ENSG00000163386 ENSG00000271425 100132406 neuroblastoma breakpoint family 31992 protein-coding gene gene with protein product 614000 NA 16079250 Standard NM_001039703 NM_001039703 NA Approved AG1 Q6P3W6 OTTHUMG00000013757 ENST00000369339.3:c.1040+12460A>G chr1.hg19:g.145323614A>G NA Q5RHC0|Q9NWN6 hg19 0.02 4.244042 TGAxTTG COVERED NOVEL NBPF10-001 KNOWN not_best_in_genome_evidence|basic protein_coding NA protein_coding OTTHUMT00000038550.3 0 5.748566 KEEP 27 1 34 31 958 AA 0.999997 0.999997 0 + 8 60 303 0 0 21.09618 121 60 4239 212 ENST00000369339.3 0.062016 1 NBPF10 100132406 __UNKNOWN__ __UNKNOWN__ 1 145323656 145323656 __UNKNOWN__ Intron SNP A A T rs75252120 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:145323656A>T ENST00000369339.3 + 10 1293 NBPF10_ENST00000342960.5_Missense_Mutation_p.I1165F|NBPF10_ENST00000369338.1_Intron Q6P3W6 NBPFA_HUMAN neuroblastoma breakpoint family, member 10 NA NA cytoplasm (GO:0005737) poly(A) RNA binding (GO:0044822) p.I1165F(3) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) TATTGCAGGAATTAAAAAGGA 0.473 NA NA NA NA NA NA NA NA NA NA NA 3 Substitution - Missense(3) endometrium(2)|kidney(1) NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC021111 1q21.1 2013-01-17 ENSG00000163386 ENSG00000271425 100132406 neuroblastoma breakpoint family 31992 protein-coding gene gene with protein product 614000 NA 16079250 Standard NM_001039703 NM_001039703 NA Approved AG1 Q6P3W6 OTTHUMG00000013757 ENST00000369339.3:c.1040+12502A>T chr1.hg19:g.145323656A>T NA Q5RHC0|Q9NWN6 hg19 0.02 9.194466 GGAxTTA COVERED . . . . . . . . . . . 7.524 0.657305 0.14580 . . ENSG00000163386 ENST00000342960 T 0.03441 3.93 . . . . . . . . T 0.02342 0.0072 M 0.67953 2.075 0.09310 N 1 . . . . . . T 0.44065 -0.9352 5 0.28530 T 0.3 . . . . . . . . F 1165 ENSP00000345684:I1165F ENSP00000345684:I1165F I + 1 0 NBPF10 144035013 0.353000 0.24904 0.005000 0.12908 0.123000 0.20343 1.122000 0.31295 0.386000 0.24997 0.128000 0.15822 ATT NOVEL NBPF10-001 KNOWN not_best_in_genome_evidence|basic protein_coding NA protein_coding OTTHUMT00000038550.3 1 7.6147 KEEP 15 4 133 72 2264 AA 1 1 0 + 7 60 272 0 0 17.044263 215 60 7680 381 ENST00000369339.3 0.031532 1 LIX1L 128077 __UNKNOWN__ __UNKNOWN__ 1 145477257 145477257 __UNKNOWN__ Silent SNP T T C rs2282013 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:145477257T>C ENST00000369308.3 + 1 173 c.99T>C c.(97-99)gcT>gcC p.A33A RP11-315I20.1_ENST00000600340.1_RNA NM_153713.1 NP_714924.1 Q8IVB5 LIX1L_HUMAN Lix1 homolog (chicken) like 33 NA large_intestine(4)|lung(6)|ovary(2)|skin(1) 13 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GGgccgcggctgccaccgcca 0.781 NA T||| 572 0.114217 0.0825 0.0562 5008 , , NA 6236 0.2123 NA 0.0964 False NA ,,, NA NA NA 2504 0.1155 NA NA NA NA 0 1 2 1 NA NA 1 NA 145477257 716 1870 2586 SO:0001819 synonymous_variant AK128733 CCDS72873.1 1q21.1 2014-07-15 2014-07-15 ENSG00000152022 ENSG00000271601 128077 28715 protein-coding gene gene with protein product Lix1 homolog (mouse) like, Lix1 homolog (chicken)-like NA 12477932 Standard NM_153713 NM_153713 NA Approved MGC46719 uc001enr.3 Q8IVB5 OTTHUMG00000013741 ENST00000369308.3:c.99T>C chr1.hg19:g.145477257T>C NA Q6AI36 hg19 CCDS915.1 0.02 -0.306997 GGCxGCC COVERED NOVEL LIX1L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000038513.1 0 15.040696 KEEP 0 0 0 50 1485 TT 1 0.800245 0 + 4 60 128 0 0 9.362347 30 60 989 96 ENST00000369308.3 0.117647 0.800245 ANKRD35 148741 __UNKNOWN__ __UNKNOWN__ 1 145562087 145562087 __UNKNOWN__ Missense_Mutation SNP G G A rs41315701 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:145562087G>A ENST00000355594.4 + 10 1862 c.1775G>A c.(1774-1776)cGa>cAa p.R592Q NM_144698.3 NP_653299.4 Q8N283 ANR35_HUMAN ankyrin repeat domain 35 592 NA R -> Q (in dbSNP:rs41315701). NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1) 47 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CCTGGGGCTCGAGGAGAGCCT 0.582 NA G||| 619 0.123602 0.0129 0.111 5008 , , NA 17919 0.1319 NA 0.2117 False NA ,,, NA NA NA 2504 0.183 NA NA NA Melanoma(9;127 754 22988 51047) NA 0 G GLN/ARG 231,4175 11,209,1983 37 49 45 1775 0.9 0 1 dbSNP_127 45 1959,6639 230,1499,2570 yes missense ANKRD35 NM_144698.3 43 241,1708,4553 AA,AG,GG 22.7844,5.2429,16.841 benign 592/1002 145562087 2190,10814 2203 4299 6502 SO:0001583 missense AK091120 CCDS72867.1, CCDS72868.1 1q21.1 2013-01-10 ENSG00000198483 ENSG00000198483 148741 Ankyrin repeat domain containing 26323 protein-coding gene gene with protein product NA Standard NM_144698 NM_144698 NA Approved FLJ25124 uc001eob.1 Q8N283 OTTHUMG00000013743 ENST00000355594.4:c.1775G>A chr1.hg19:g.145562087G>A ENSP00000347802:p.Arg592Gln NA A6NEU0|B4DL62|Q3MJ10|Q96LS3 hg19 CCDS919.1 0.02 6.510644 CTCxAGG COVERED 316 0.1446886446886447 8 0.016260162601626018 44 0.12154696132596685 95 0.1660839160839161 169 0.22295514511873352 G 3.749 -0.052032 0.07362 0.052429 0.227844 ENSG00000198483 ENST00000453670;ENST00000355594 T 0.44482 0.92 4.87 0.923 0.19413 . 0.734278 0.11613 N 0.546527 T 0.09024 0.0223 L 0.27053 0.805 0.80722 P 0.0 B 0.10296 0.003 B 0.04013 0.001 T 0.29488 -1.0010 9 0.20046 T 0.44 -1.5743 4.2906 0.10876 0.2782:0.1674:0.5544:0.0 rs41315701 592 Q8N283 ANR35_HUMAN Q 501;592 ENSP00000347802:R592Q ENSP00000347802:R592Q R + 2 0 ANKRD35 144273444 0.002000 0.14202 0.000000 0.03702 0.073000 0.16967 1.200000 0.32247 0.014000 0.14944 0.655000 0.94253 CGA NOVEL ANKRD35-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000038515.1 1 24.670795 KEEP 0 0 0 82 2689 GG 1 1 0 + 10 60 365 0 0 24.579208 167 60 5847 309 ENST00000355594.4 0.056497 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 146509468 146509468 __UNKNOWN__ IGR SNP A A G rs12141289 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:146509468A>G NA NA RP4-704D21.2 (34291 upstream) : RNVU1-8 (41826 downstream) NA NA NA AATACTACATAATACCCTATT 0.358 NA G||| 832 0.166134 0.2489 0.1585 5008 , , NA 19616 0.0278 NA 0.2873 False NA ,,, NA NA NA 2504 0.0777 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.146509468A>G NA hg19 0.02 19.238918 CATxATA COVERED NOVEL 0 0 8.125433 KEEP 0 0 0 27 874 AA 0.999988 0.999988 0 16 60 598 0 0 38.183374 390 60 14057 518 0.039409 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 146511445 146511445 __UNKNOWN__ IGR SNP G G T rs61838895 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:146511445G>T NA NA RP4-704D21.2 (36268 upstream) : RNVU1-8 (39849 downstream) NA NA NA TTTGACTGATGCTCTATCTGT 0.368 NA G||| 679 0.135583 0.1536 0.1499 5008 , , NA 19335 0.0278 NA 0.2684 False NA ,,, NA NA NA 2504 0.0757 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.146511445G>T NA hg19 0.02 8.285328 GATxCTC COVERED NOVEL 0 2 3.611819 KEEP 0 0 0 12 426 GG 0.993634 0.993634 0 11 60 401 0 0 26.549673 202 60 7375 244 0.051643 1 PRKAB2 5565 __UNKNOWN__ __UNKNOWN__ 1 146630916 146630916 __UNKNOWN__ 3'UTR SNP T T C rs2304893 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:146630916T>C ENST00000254101.3 - 0 1185 PRKAB2_ENST00000496858.1_5'UTR NM_005399.3 NP_005390.1 O43741 AAKB2_HUMAN protein kinase, AMP-activated, beta 2 non-catalytic subunit NA NA carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|insulin receptor signaling pathway (GO:0008286)|membrane organization (GO:0061024)|protein phosphorylation (GO:0006468)|regulation of fatty acid biosynthetic process (GO:0042304)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281) AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|nucleoplasm (GO:0005654) identical protein binding (GO:0042802) NS(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 11 all_hematologic(923;0.0487) Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131) AGGCTTCCATTTACCTTCTTC 0.398 NA T||| 828 0.165335 0.0023 0.17 5008 , , NA 17530 0.3968 NA 0.0875 False NA ,,, NA NA NA 2504 0.2239 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC053610 CCDS925.1 1q21.2 2008-02-05 ENSG00000131791 ENSG00000131791 5565 9379 protein-coding gene gene with protein product AMPK beta 2 602741 NA 8557660 Standard NM_005399 NM_005399 NA Approved uc001epe.3 O43741 OTTHUMG00000014032 ENST00000254101.3:c.*228A>G chr1.hg19:g.146630916T>C NA A8K9V5|B4DH06|Q5VXY0 hg19 CCDS925.1 0.02 4.980266 CATxTAC COVERED NOVEL PRKAB2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000039471.1 1 6.620574 KEEP 0 0 0 22 715 TT 0.999879 0.999852 0 - 12 60 436 0 0 33.285527 90 60 3236 147 ENST00000254101.3 0.117647 0.999973 FMO5 2330 __UNKNOWN__ __UNKNOWN__ 1 146684131 146684131 __UNKNOWN__ Intron SNP G G A rs2297753 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:146684131G>A ENST00000254090.4 - 5 876 FMO5_ENST00000465173.1_Intron|RP11-337C18.10_ENST00000606856.1_RNA|FMO5_ENST00000369272.3_Intron|FMO5_ENST00000441068.2_Intron NM_001461.2 NP_001452.2 P49326 FMO5_HUMAN flavin containing monooxygenase 5 NA NA endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661) breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1) 25 all_hematologic(923;0.0487) ATAATTATTGGGTAATGGTTT 0.363 NA G||| 836 0.166933 0.0023 0.1758 5008 , , NA 18935 0.3998 NA 0.0885 False NA ,,, NA NA NA 2504 0.2239 NA NA NA NA 0 G ,, 68,4338 1,66,2136 75 76 76 ,, 4.7 0.1 1 dbSNP_100 76 642,7958 24,594,3682 no intron,intron,intron FMO5 NM_001144829.1,NM_001144830.1,NM_001461.2 ,, 25,660,5818 AA,AG,GG 7.4651,1.5433,5.459 ,, ,, 146684131 710,12296 2203 4300 6503 SO:0001627 intron_variant Z47553 CCDS926.1, CCDS44209.1, CCDS44210.1 1q21.1 2011-08-04 ENSG00000131781 ENSG00000131781 2330 3773 protein-coding gene gene with protein product 603957 NA 8786146, 9119381 Standard NM_001461 NM_001461 NA Approved uc001epi.2 P49326 OTTHUMG00000014607 ENST00000254090.4:c.488-28C>T chr1.hg19:g.146684131G>A NA B2RBG1|C9JJD1|Q8IV22 hg19 CCDS926.1 0.02 4.637783 TTGxGTA COVERED NOVEL FMO5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040373.2 0 4.513864 KEEP 0 0 0 15 489 GG 0.99649 0.99649 0 - 6 60 230 0 0 15.089826 135 60 4924 164 ENST00000254090.4 0.042553 1 CHD1L 9557 __UNKNOWN__ __UNKNOWN__ 1 146727593 146727593 __UNKNOWN__ Intron SNP G G A rs3737846 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:146727593G>A ENST00000369258.4 + 4 482 CHD1L_ENST00000431239.1_Intron|CHD1L_ENST00000467213.1_Intron|CHD1L_ENST00000369259.3_Intron|CHD1L_ENST00000361293.5_Intron NM_001256336.1|NM_004284.4|NM_024568.2 NP_001243265.1|NP_004275.4|NP_078844.2 Q86WJ1 CHD1L_HUMAN chromodomain helicase DNA binding protein 1-like NA NA ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281) cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|nucleotide binding (GO:0000166) breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(923;0.0487) GTATTCATTCGTTTCTCTATA 0.433 NA G||| 1263 0.252196 0.2943 0.1988 5008 , , NA 20137 0.4226 NA 0.0865 False NA ,,, NA NA NA 2504 0.228 NA NA NA NA 0 G 1104,3302 393.7+/-329.0 153,798,1252 53 44 47 3.1 0 1 dbSNP_107 47 659,7941 166.8+/-218.7 26,607,3667 no intron CHD1L NM_004284.3 179,1405,4919 AA,AG,GG 7.6628,25.0567,13.5553 146727593 1763,11243 2203 4300 6503 SO:0001627 intron_variant AF054177 CCDS927.1, CCDS58021.1, CCDS58022.1, CCDS72882.1 1q21.1 2008-02-05 ENSG00000131778 ENSG00000131778 9557 1916 protein-coding gene gene with protein product 613039 NA 9653160 Standard NM_004284 NM_004284 NA Approved ALC1 uc001epm.5 Q86WJ1 OTTHUMG00000150271 ENST00000369258.4:c.462+11G>A chr1.hg19:g.146727593G>A NA A5YM64|B4DDE1|B5MDZ7|Q53EZ3|Q5VXX7|Q6DD94|Q6PK83|Q86XH3|Q96HF7|Q96SP3|Q9BVJ1|Q9NVV8 hg19 CCDS927.1 0.02 4.572997 TTCxTTT COVERED NOVEL CHD1L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040377.1 0 8.728073 KEEP 0 0 0 29 1002 GG 0.999997 0.999997 0 + 5 60 198 0 0 12.86773 132 60 4813 220 ENST00000369258.4 0.036496 1 BCL9 607 __UNKNOWN__ __UNKNOWN__ 1 147083744 147083744 __UNKNOWN__ Intron SNP C C T rs677977 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:147083744C>T ENST00000234739.3 + 4 793 BCL9_ENST00000473292.1_Intron NM_004326.2 NP_004317.2 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 NA NA canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019) cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634) breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(923;0.115) CATAGGCACACCATGAACACT 0.443 NA T IGH@, IGL@ B-ALL C||| 1532 0.305911 0.2504 0.3242 5008 , , NA 20411 0.2778 NA 0.3072 False NA ,,, NA NA NA 2504 0.3957 NA NA NA Dom yes 1 1q21 607 B-cell CLL/lymphoma 9 L 0 C 323,1061 42,239,411 58 56 57 1.7 0 1 dbSNP_83 57 988,2194 157,674,760 no intron BCL9 NM_004326.2 199,913,1171 TT,TC,CC 31.0497,23.3382,28.7122 147083744 1311,3255 692 1591 2283 SO:0001627 intron_variant Y13620 CCDS30833.1 1q21 2008-02-05 ENSG00000116128 ENSG00000116128 607 1008 protein-coding gene gene with protein product 602597 NA 9490669 Standard NM_004326 NM_004326 NA Approved uc001epq.3 O00512 OTTHUMG00000014031 ENST00000234739.3:c.53+56C>T chr1.hg19:g.147083744C>T NA Q5T489 hg19 CCDS30833.1 0.02 8.42698 ACAxCAT COVERED NOVEL BCL9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000039468.1 4 9.631221 KEEP 0 0 0 32 1132 CC 0.999997 0.999997 0 + 15 60 545 0 0 37.558809 216 60 7615 281 ENST00000234739.3 0.064935 1 ACP6 51205 __UNKNOWN__ __UNKNOWN__ 1 147142296 147142296 __UNKNOWN__ 5'UTR SNP T T C rs2883202 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:147142296T>C ENST00000369238.6 - 0 322 ACP6_ENST00000392988.2_5'UTR NM_016361.3 NP_057445.4 Q9NPH0 PPA6_HUMAN acid phosphatase 6, lysophosphatidic NA NA dephosphorylation (GO:0016311)|lysobisphosphatidic acid metabolic process (GO:2001311)|phospholipid metabolic process (GO:0006644) cytoplasm (GO:0005737)|mitochondrion (GO:0005739) acid phosphatase activity (GO:0003993)|lysophosphatidic acid phosphatase activity (GO:0052642) breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1) 16 all_hematologic(923;0.0276) CATCCAGCCCTTCAGCAAGCA 0.677 NA C||| 2420 0.483227 0.6498 0.415 5008 , , NA 14692 0.6141 NA 0.332 False NA ,,, NA NA NA 2504 0.3272 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant BC009965 CCDS928.1 1q21 2008-02-05 ENSG00000162836 ENSG00000162836 51205 29609 protein-coding gene gene with protein product 611471 NA 12010880, 10506173 Standard NM_016361 NM_016361 NA Approved LPAP, ACPL1 uc001epr.2 Q9NPH0 OTTHUMG00000014019 ENST00000369238.6:c.-126A>G chr1.hg19:g.147142296T>C NA Q59G61|Q5T490|Q6IAQ3|Q7LG81|Q9UIG6 hg19 CCDS928.1 0.02 4.053038 CCCxTCA COVERED NOVEL ACP6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000039420.2 1 14.138855 KEEP 0 0 0 47 1444 TT 1 1 0 - 7 60 255 0 0 17.053683 121 60 4444 205 ENST00000369238.6 0.054687 1 GPR89B 51463 __UNKNOWN__ __UNKNOWN__ 1 147400513 147400513 __UNKNOWN__ 5'UTR SNP C C T rs9438051 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:147400513C>T ENST00000314163.7 + 0 8 NM_016334.3 NP_057418.1 P0CG08 GPHRB_HUMAN G protein-coupled receptor 89B NA NA protein transport (GO:0015031) Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) voltage-gated ion channel activity (GO:0005244) large_intestine(1) 1 all_hematologic(923;0.0276) CGCAGCTTGACGGCGTCGGGC 0.726 NA .||| 234 0.0467252 0.0915 0.0331 5008 , , NA 12250 0.0456 NA 0.0328 False NA ,,, NA NA NA 2504 0.0112 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant U78723 CCDS930.1 1q21.1 2014-06-19 2007-06-06 2007-06-06 ENSG00000188092 ENSG00000188092 51463 13840 protein-coding gene gene with protein product 612806 G protein-coupled receptor 89, G protein-coupled receptor 89C GPR89, GPR89C NA 11042152 Standard NM_016334 NM_016334 NA Approved SH120 uc001epv.4 P0CG08 OTTHUMG00000013452 ENST00000314163.7:c.-137C>T chr1.hg19:g.147400513C>T NA A6NN37|B2RUV3|B3KMN3|Q53FQ9|Q5T2V8|Q5T5P5|Q659E2|Q6NVY5|Q9P0S4|Q9Y302 hg19 CCDS930.1 0.02 1.707904 TGAxGGC COVERED NOVEL GPR89B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000037481.2 2 6.889593 KEEP 0 0 0 23 740 CC 0.999892 0.999696 0 + 4 40 146 0 0 9.425224 85 60 2997 116 ENST00000314163.7 0.044944 0.999804 NBPF14 25832 __UNKNOWN__ __UNKNOWN__ 1 148010933 148010933 __UNKNOWN__ Silent SNP G G C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:148010933G>C ENST00000369219.1 - 14 1705 c.1689C>G c.(1687-1689)gcC>gcG p.A563A Q5TI25 NBPFE_HUMAN neuroblastoma breakpoint family, member 14 563 NBPF 6. {ECO:0000255|PROSITE- ProRule:PRU00647}. NA cytoplasm (GO:0005737) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1) 42 all_hematologic(923;0.032) ATATGTAAAAGGCACTTCTGT 0.463 NA NA NA NA NA NA NA NA NA NA NA 0 2 1 1 NA NA 1 NA 148010933 407 1149 1556 SO:0001819 synonymous_variant AK092351 1q21.1 2013-01-17 ENSG00000122497 25832 neuroblastoma breakpoint family 25232 protein-coding gene gene with protein product 614003 NA 8619474, 9110174, 16079250 Standard NM_015383 NM_015383 NA Approved DJ328E19.C1.1 uc021owp.2 Q5TI25 OTTHUMG00000013900 ENST00000369219.1:c.1689C>G chr1.hg19:g.148010933G>C NA Q5TI23|Q8IX76|Q9UJI9 hg19 0.02 11.390612 AAAxGCA COVERED . . . . . . . . . . - 0.650 -0.809993 0.02798 . . ENSG00000122497 ENST00000310701 . . . . . . . . . . . T 0.12689 0.0308 . . . 0.09310 N 0.999998 . . . . . . T 0.31668 -0.9935 2 . . . . . . . . . . . R 569 . . P - 2 0 NBPF14 146477557 0.988000 0.35896 0.012000 0.15200 0.011000 0.07611 0.906000 0.28517 0.064000 0.16427 0.064000 0.15345 CCT NOVEL NBPF14-201 KNOWN basic|appris_principal protein_coding NA protein_coding 5 21.607016 KEEP 60 1 35 84 3048 GG 1 1 0 - 20 40 742 0 0 52.52393 258 40 9862 497 ENST00000369219.1 0.071942 1 NBPF14 25832 __UNKNOWN__ __UNKNOWN__ 1 148010972 148010972 __UNKNOWN__ Silent SNP A A G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:148010972A>G ENST00000369219.1 - 14 1666 c.1650T>C c.(1648-1650)tgT>tgC p.C550C Q5TI25 NBPFE_HUMAN neuroblastoma breakpoint family, member 14 550 NBPF 6. {ECO:0000255|PROSITE- ProRule:PRU00647}. NA cytoplasm (GO:0005737) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1) 42 all_hematologic(923;0.032) TCAGTTCAAGACAACCTGAAG 0.488 NA NA NA NA NA NA NA NA NA NA NA 0 2 2 2 NA NA 1 NA 148010972 557 1411 1968 SO:0001819 synonymous_variant AK092351 1q21.1 2013-01-17 ENSG00000122497 25832 neuroblastoma breakpoint family 25232 protein-coding gene gene with protein product 614003 NA 8619474, 9110174, 16079250 Standard NM_015383 NM_015383 NA Approved DJ328E19.C1.1 uc021owp.2 Q5TI25 OTTHUMG00000013900 ENST00000369219.1:c.1650T>C chr1.hg19:g.148010972A>G NA Q5TI23|Q8IX76|Q9UJI9 hg19 0.02 12.934528 AAGxCAA COVERED . . . . . . . . . . - 0.647 -0.811135 0.02798 . . ENSG00000122497 ENST00000310701 . . . . . . . . . . . T 0.08714 0.0216 . . . 0.09310 N 0.999998 . . . . . . T 0.36480 -0.9746 2 . . . . . . . . . . . A 556 . . V - 2 0 NBPF14 146477596 0.960000 0.32886 0.003000 0.11579 0.003000 0.03518 -0.165000 0.09968 -0.568000 0.06038 -0.564000 0.04169 GTC NOVEL NBPF14-201 KNOWN basic|appris_principal protein_coding NA protein_coding 5 22.404378 KEEP 54 1 36 87 2791 AA 1 1 0 - 21 40 831 0 0 61.769506 230 40 8337 515 ENST00000369219.1 0.083665 1 NBPF14 25832 __UNKNOWN__ __UNKNOWN__ 1 148011027 148011027 __UNKNOWN__ Missense_Mutation SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:148011027C>T ENST00000369219.1 - 14 1611 c.1595G>A c.(1594-1596)gGg>gAg p.G532E Q5TI25 NBPFE_HUMAN neuroblastoma breakpoint family, member 14 532 NBPF 6. {ECO:0000255|PROSITE- ProRule:PRU00647}. NA cytoplasm (GO:0005737) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1) 42 all_hematologic(923;0.032) GACTTCAGGCCCTTTCTCATC 0.483 NA NA NA NA NA NA NA NA NA NA NA 0 2 3 3 NA NA 1 NA 148011027 691 1627 2318 SO:0001583 missense AK092351 1q21.1 2013-01-17 ENSG00000122497 25832 neuroblastoma breakpoint family 25232 protein-coding gene gene with protein product 614003 NA 8619474, 9110174, 16079250 Standard NM_015383 NM_015383 NA Approved DJ328E19.C1.1 uc021owp.2 Q5TI25 OTTHUMG00000013900 ENST00000369219.1:c.1595G>A chr1.hg19:g.148011027C>T ENSP00000358221:p.Gly532Glu NA Q5TI23|Q8IX76|Q9UJI9 hg19 0.02 3.777999 GGCxCTT COVERED .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. -|- 0.001|0.001 -3.233624|-3.233624 0.00023|0.00023 .|. .|. ENSG00000122497|ENSG00000122497 ENST00000369219|ENST00000310701 T|T 0.02579|0.06371 4.24|3.31 .|. .|. .|. DUF1220 (2);|. .|. .|. .|. .|. T|T 0.00356|0.00356 0.0011|0.0011 N|N 0.00382|0.00382 -1.575|-1.575 0.09310|0.09310 N|N 0.999999|0.999999 B;B;B;B|. 0.06786|. 0.001;0.0;0.001;0.0|. B;B;B;B|. 0.14023|. 0.004;0.001;0.01;0.002|. T|T 0.49418|0.49418 -0.8942|-0.8942 7|5 0.02654|0.45353 T|T 1|0.12 .|. .|. .|. .|. .|. 646;532;553;59|. Q8IX74;Q5TI25;Q5VTG7;Q8IX75|. .;NBPFE_HUMAN;.;.|. E|S 532|538 ENSP00000358221:G532E|ENSP00000309907:G538S ENSP00000358221:G532E|ENSP00000309907:G538S G|G -|- 2|1 0|0 NBPF14|NBPF14 146477651|146477651 0.141000|0.141000 0.22595|0.22595 0.000000|0.000000 0.03702|0.03702 0.000000|0.000000 0.00434|0.00434 -2.726000|-2.726000 0.00808|0.00808 -2.833000|-2.833000 0.00338|0.00338 -2.864000|-2.864000 0.00100|0.00100 GGG|GGC NOVEL NBPF14-201 KNOWN basic|appris_principal protein_coding NA protein_coding 1 7.025872 KEEP 40 3 93 56 1899 CC 1 1 0 - 6 39 215 0 0 13.499343 140 18 4879 244 ENST00000369219.1 0.041096 1 NBPF14 25832 __UNKNOWN__ __UNKNOWN__ 1 148024842 148024842 __UNKNOWN__ Missense_Mutation SNP C C A rs199813623 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:148024842C>A ENST00000369219.1 - 2 171 c.155G>T c.(154-156)cGc>cTc p.R52L Q5TI25 NBPFE_HUMAN neuroblastoma breakpoint family, member 14 52 NA cytoplasm (GO:0005737) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1) 42 all_hematologic(923;0.032) ATTCAATGAGCGGGAGGCATC 0.572 NA -||| 4 0.000798722 0.0 0.0014 5008 , , NA 26517 0.0 NA 0.001 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 15 25 23 NA NA 1 NA 148024842 634 2012 2646 SO:0001583 missense AK092351 1q21.1 2013-01-17 ENSG00000122497 25832 neuroblastoma breakpoint family 25232 protein-coding gene gene with protein product 614003 NA 8619474, 9110174, 16079250 Standard NM_015383 NM_015383 NA Approved DJ328E19.C1.1 uc021owp.2 Q5TI25 OTTHUMG00000013900 ENST00000369219.1:c.155G>T chr1.hg19:g.148024842C>A ENSP00000358221:p.Arg52Leu NA Q5TI23|Q8IX76|Q9UJI9 hg19 0.02 -0.175457 GAGxGGG UNCOVERED .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. c|c 2.109|2.109 -0.404187|-0.404187 0.04832|0.04832 .|. .|. ENSG00000122497|ENSG00000122497 ENST00000310701;ENST00000444640;ENST00000431121;ENST00000436356;ENST00000448574;ENST00000458135;ENST00000392972;ENST00000426874|ENST00000369219 .|T .|0.03772 .|3.81 .|. .|. .|. .|. .|. .|. .|. .|. T|T 0.01454|0.01454 0.0047|0.0047 M|M 0.72118|0.72118 2.19|2.19 0.09310|0.09310 N|N 1|1 .|P;B .|0.44380 .|0.834;0.242 .|B;B .|0.40066 .|0.318;0.09 T|T 0.38156|0.38156 -0.9674|-0.9674 4|8 .|0.19147 .|T .|0.46 .|. 1.4182|1.4182 0.02306|0.02306 0.342:0.3294:0.0:0.3286|0.342:0.3294:0.0:0.3286 .|. .|52;317 .|Q5TI25;Q5VTG7 .|NBPFE_HUMAN;. S|L 58;63;63;63;63;63;63;63|52 .|ENSP00000358221:R52L .|ENSP00000358221:R52L A|R -|- 1|2 0|0 NBPF14|NBPF14 146491466|146491466 0.000000|0.000000 0.05858|0.05858 0.000000|0.000000 0.03702|0.03702 0.113000|0.113000 0.19764|0.19764 -0.276000|-0.276000 0.08514|0.08514 -0.921000|-0.921000 0.03794|0.03794 0.064000|0.064000 0.15345|0.15345 GCT|CGC NOVEL NBPF14-201 KNOWN basic|appris_principal protein_coding NA protein_coding 0 3.309941 KEEP 29 0 0 11 351 CC 0 0 0 - 10 23 365 0 0 35.250658 10 40 331 61 ENST00000369219.1 0.5 0.387407 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 148859745 148859745 __UNKNOWN__ IGR SNP G G C rs142166899 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:148859745G>C NA NA RP11-763B22.6 (6028 upstream) : RNA5SP59 (53527 downstream) NA NA NA tacttggTGAGATATGaattt 0.363 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.148859745G>C NA hg19 0.02 -0.114053 TGAxATA UNCOVERED NOVEL 0 3 2.407947 KEEP 4 0 0 8 291 GG 0 0 0 3 37 112 0 0 9.581578 10 50 373 28 0.230769 0.162467 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 148874492 148874492 __UNKNOWN__ IGR SNP G G A rs61809927 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:148874492G>A NA NA RP11-763B22.6 (20775 upstream) : RNA5SP59 (38780 downstream) NA NA NA gcagatcaccggaggtcagga 0.517 NA .||| 2333 0.465855 0.4342 0.4683 5008 , , NA 60574 0.4673 NA 0.4821 False NA ,,, NA NA NA 2504 0.4888 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.148874492G>A NA hg19 0.02 -0.131592 ACCxGAG COVERED NOVEL 0 6 6.019623 KEEP 7 0 0 20 706 GG 0.995343 0.228106 0 5 60 187 0 0 16.939274 10 60 352 49 0.333333 0.229173 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 148878133 148878133 __UNKNOWN__ IGR SNP A A G rs4060391 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:148878133A>G NA NA RP11-763B22.6 (24416 upstream) : RNA5SP59 (35139 downstream) NA NA NA gattacaggcatgagccacca 0.557 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.148878133A>G NA hg19 0.02 -0.114043 GGCxTGA UNCOVERED NOVEL 0 4 3.310263 KEEP 6 0 0 11 352 AA 0.99254 0.161255 0 3 40 100 0 0 8.77844 7 50 254 33 0.3 0.162467 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 148881293 148881293 __UNKNOWN__ IGR SNP A A G rs200222923 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:148881293A>G NA NA RP11-763B22.6 (27576 upstream) : RNA5SP59 (31979 downstream) NA NA NA ttagctgggcatggtggtgga 0.517 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.148881293A>G NA hg19 0.02 -0.114053 GGCxTGG UNCOVERED NOVEL 0 4 2.708054 KEEP 3 0 0 9 278 AA 0 0 0 3 49 111 0 0 9.481581 10 49 379 31 0.230769 0.162467 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 148902223 148902223 __UNKNOWN__ IGR SNP G G A rs151007 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:148902223G>A NA NA RP11-763B22.6 (48506 upstream) : RNA5SP59 (11049 downstream) NA NA NA AGCGCCCTCTGGGGCTCGAGG 0.716 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.148902223G>A NA hg19 0.02 6.731332 TCTxGGG COVERED NOVEL 0 0 3.310748 KEEP 1 0 0 11 388 GG 0.993072 0.993072 0 28 49 961 0 0 75.337578 157 50 5898 218 0.151351 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 148902298 148902298 __UNKNOWN__ IGR SNP G G A rs6708279 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:148902298G>A NA NA RP11-763B22.6 (48581 upstream) : RNA5SP59 (10974 downstream) NA NA NA TCGCAGGGCTGTAGTTGGGAT 0.697 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.148902298G>A NA hg19 0.02 11.360928 GCTxTAG COVERED NOVEL 0 3 13.675823 KEEP 32 1 27 55 1911 GG 1 1 0 15 49 544 0 0 36.383613 256 60 9700 438 0.055351 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 149028416 149028416 __UNKNOWN__ IGR SNP T T G rs9725719 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:149028416T>G NA NA RP11-14N7.2 (76821 upstream) : AL732363.1 (7895 downstream) NA NA NA cctgacctcgtgataaaccca 0.468 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.149028416T>G NA hg19 0.02 -0.096508 TCGxGAT UNCOVERED NOVEL 0 2 2.407192 KEEP 3 0 0 8 245 TT 0 0 0 2 60 73 0 0 6.792744 3 60 120 26 0.4 0.120436 RP11-403I13.9 0 __UNKNOWN__ __UNKNOWN__ 1 149311850 149311850 __UNKNOWN__ lincRNA SNP T T A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:149311850T>A ENST00000449024.1 - 0 187 NA NA NA ctgaggcagttggatcacctg 0.507 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000449024.1: chr1.hg19:g.149311850T>A NA hg19 0.02 -0.15792 AGTxGGA COVERED NOVEL RP11-403I13.9-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000099634.1 0 2.708307 KEEP 1 0 0 9 289 TT 0.99254 0.320398 0 - 3 60 106 0 0 8.509522 15 60 569 34 ENST00000449024.1 0.166667 0.322807 RP11-403I13.9 0 __UNKNOWN__ __UNKNOWN__ 1 149311851 149311851 __UNKNOWN__ lincRNA SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:149311851G>A ENST00000449024.1 - 0 187 NA NA NA tgaggcagttggatcacctga 0.507 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000449024.1: chr1.hg19:g.149311851G>A NA hg19 0.02 -0.157919 GTTxGAT COVERED NOVEL RP11-403I13.9-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000099634.1 0 2.708798 KEEP 1 0 0 9 320 GG 0.99254 0.320398 0 - 3 60 110 0 0 8.90947 15 60 565 34 ENST00000449024.1 0.166667 0.322807 FCGR1A 2209 __UNKNOWN__ __UNKNOWN__ 1 149760214 149760214 __UNKNOWN__ Intron SNP C C G rs201261589 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:149760214C>G ENST00000369168.4 + 4 613 HIST2H2BF_ENST00000545683.1_Intron|RP11-196G18.21_ENST00000420462.1_RNA|RP11-196G18.3_ENST00000428289.1_RNA NM_000566.3 NP_000557.1 P12314 FCGR1_HUMAN Fc fragment of IgG, high affinity Ia, receptor (CD64) NA NA antibody-dependent cellular cytotoxicity (GO:0001788)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intracellular signal transduction (GO:0035556)|phagocytosis, engulfment (GO:0006911)|phagocytosis, recognition (GO:0006910)|positive regulation of phagocytosis (GO:0050766)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation of type III hypersensitivity (GO:0001805)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165) clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) IgG receptor activity (GO:0019770)|receptor signaling protein activity (GO:0005057) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2) 10 Breast(34;0.0124)|all_hematologic(923;0.127) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) AGTCCCTCCCcctgagggacc 0.428 NA C||| 71 0.0141773 0.0 0.0 5008 , , NA 19910 0.0685 NA 0.0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC032634 CCDS933.1 1q21.2-q21.3 2014-09-17 2005-02-02 ENSG00000150337 ENSG00000150337 2209 CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 3613 protein-coding gene gene with protein product 146760 Fc fragment of IgG, high affinity Ia, receptor for (CD64) NA 8697799, 9763663 Standard NM_000566 NM_000566 NA Approved CD64, CD64A uc001esp.4 P12314 OTTHUMG00000012089 ENST00000369168.4:c.559+41C>G chr1.hg19:g.149760214C>G NA P12315|Q5QNW7|Q92495|Q92663 hg19 CCDS933.1 0.02 9.089254 CCCxCTG COVERED NOVEL FCGR1A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000033446.1 2 14.748166 KEEP 22 0 0 49 1735 CC 1 1 0 + 7 60 269 0 0 16.569185 228 60 8137 334 ENST00000369168.4 0.029787 1 MTMR11 10903 __UNKNOWN__ __UNKNOWN__ 1 149908108 149908108 __UNKNOWN__ 5'UTR SNP A A G rs386547202|rs1868992 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:149908108A>G ENST00000369140.3 - 0 135 MTMR11_ENST00000439741.2_Silent_p.N27N|MTMR11_ENST00000406732.3_5'UTR|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000361405.6_Silent_p.N27N NM_181873.3 NP_870988.2 A4FU01 MTMRB_HUMAN myotubularin related protein 11 NA NA phosphatase activity (GO:0016791) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4) 34 Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) CCGGCATCCTATTTTCCTGGA 0.557 NA G||| 2087 0.416733 0.6914 0.3991 5008 , , NA 18119 0.3571 NA 0.2594 False NA ,,, NA NA NA 2504 0.2812 NA NA NA NA 0 G , 2708,1698 513.9+/-368.5 837,1034,332 90 92 91 81, -0.8 0 1 dbSNP_92 91 2236,6364 709.0+/-405.7 320,1596,2384 no coding-synonymous,utr-5 MTMR11 NM_001145862.1,NM_181873.3 , 1157,2630,2716 GG,GA,AA 26.0,38.5384,38.0132 , 27/710, 149908108 4944,8062 2203 4300 6503 SO:0001623 5_prime_UTR_variant AK097000 CCDS72901.1, CCDS72902.1 1q12-q21 2011-06-09 ENSG00000014914 ENSG00000014914 10903 Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins 24307 protein-coding gene gene with protein product cisplatin resistance associated NA 12495846 Standard NM_181873 NM_181873 NA Approved CRA uc001etl.4 A4FU01 OTTHUMG00000012207 ENST00000369140.3:c.-51T>C chr1.hg19:g.149908108A>G NA B3KUE4|B4DJI6|B4DQF5|B4E3Q6|Q3ZCP7|Q5SZ62|Q6P2Q8|Q99752|Q99753 hg19 CCDS942.1 0.02 8.780919 CCTxTTT COVERED NOVEL MTMR11-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000033751.1 1 34.59237 KEEP 0 1 37 128 3765 AA 1 1 0 - 11 60 411 0 0 27.044453 225 60 7945 446 ENST00000369140.3 0.04661 1 OTUD7B 56957 __UNKNOWN__ __UNKNOWN__ 1 149915689 149915689 __UNKNOWN__ 3'UTR SNP T T C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:149915689T>C ENST00000369135.4 - 0 2893 NM_020205.2 NP_064590.2 Q6GQQ9 OTU7B_HUMAN OTU deubiquitinase 7B NA NA mucosal immune response (GO:0002385)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536) cytoplasm (GO:0005737)|nucleus (GO:0005634) cysteine-type peptidase activity (GO:0008234)|DNA binding (GO:0003677)|Lys48-specific deubiquitinase activity (GO:1990380)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270) breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247) GGGGACTGTGTTCTTGATGAG 0.517 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ293573 CCDS72903.1 1q21.2 2014-02-24 2014-02-24 2006-07-07 ENSG00000163113 ENSG00000264522 56957 OTU domain containing 16683 protein-coding gene gene with protein product 611748 zinc finger, A20 domain containing 1, OTU domain containing 7B ZA20D1 NA 11463333, 23827681 Standard NM_020205 NM_020205 NA Approved CEZANNE uc001etn.3 Q6GQQ9 OTTHUMG00000012291 ENST00000369135.4:c.*67A>G chr1.hg19:g.149915689T>C NA B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4 hg19 CCDS41389.1 0.02 4.259407 GTGxTCT COVERED NOVEL OTUD7B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000034146.3 1 6.920779 KEEP 0 0 0 23 738 TT 0.999892 0.999892 0 - 7 60 269 0 0 17.95823 143 60 5032 189 ENST00000369135.4 0.046667 1 OTUD7B 56957 __UNKNOWN__ __UNKNOWN__ 1 149931541 149931541 __UNKNOWN__ Intron SNP G G A rs4926400 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:149931541G>A ENST00000369135.4 - 7 1140 NM_020205.2 NP_064590.2 Q6GQQ9 OTU7B_HUMAN OTU deubiquitinase 7B NA NA mucosal immune response (GO:0002385)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536) cytoplasm (GO:0005737)|nucleus (GO:0005634) cysteine-type peptidase activity (GO:0008234)|DNA binding (GO:0003677)|Lys48-specific deubiquitinase activity (GO:1990380)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270) breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247) TAGACACTGGGCTGTGGAAGC 0.478 NA G||| 957 0.191094 0.025 0.2939 5008 , , NA 19852 0.3433 NA 0.1292 False NA ,,, NA NA NA 2504 0.2495 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ293573 CCDS72903.1 1q21.2 2014-02-24 2014-02-24 2006-07-07 ENSG00000163113 ENSG00000264522 56957 OTU domain containing 16683 protein-coding gene gene with protein product 611748 zinc finger, A20 domain containing 1, OTU domain containing 7B ZA20D1 NA 11463333, 23827681 Standard NM_020205 NM_020205 NA Approved CEZANNE uc001etn.3 Q6GQQ9 OTTHUMG00000012291 ENST00000369135.4:c.845+61C>T chr1.hg19:g.149931541G>A NA B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4 hg19 CCDS41389.1 0.02 4.466483 TGGxCTG COVERED NOVEL OTUD7B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000034146.3 0 4.81546 KEEP 0 0 0 16 540 GG 0.997832 0.997828 0 - 6 60 225 0 0 15.133834 109 60 3911 138 ENST00000369135.4 0.052174 0.999997 ANP32E 81611 __UNKNOWN__ __UNKNOWN__ 1 150199123 150199123 __UNKNOWN__ Missense_Mutation SNP G G T rs7522034 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:150199123G>T ENST00000533654.1 - 4 500 c.332C>A c.(331-333)gCg>gAg p.A111E ANP32E_ENST00000314136.8_Silent_p.G166G|ANP32E_ENST00000369114.5_Intron|ANP32E_ENST00000369119.3_Silent_p.G118G|ANP32E_ENST00000369115.2_Silent_p.G34G|ANP32E_ENST00000436748.2_Silent_p.G125G|ANP32E_ENST00000369116.4_Silent_p.G34G Q9BTT0 AN32E_HUMAN acidic (leucine-rich) nuclear phosphoprotein 32 family, member E 111 NA histone exchange (GO:0043486)|negative regulation of catalytic activity (GO:0043086) cytoplasmic membrane-bounded vesicle (GO:0016023)|nucleus (GO:0005634)|Swr1 complex (GO:0000812) histone binding (GO:0042393)|phosphatase inhibitor activity (GO:0019212) breast(3)|endometrium(3)|lung(7)|skin(1)|urinary_tract(1) 15 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) CATCTTCATCGCCATCTTTAA 0.418 NA T||| 3015 0.602037 0.9228 0.4683 5008 , , NA 19153 0.5456 NA 0.4304 False NA ,,, NA NA NA 2504 0.498 NA NA NA NA 0 T ,, 3621,785 315.8+/-294.3 1488,645,70 109 98 102 375,354,498 -3.2 1 1 dbSNP_116 102 3578,5022 627.1+/-397.9 744,2090,1466 no coding-synonymous,coding-synonymous,coding-synonymous ANP32E NM_001136478.2,NM_001136479.1,NM_030920.3 ,, 2232,2735,1536 TT,TG,GG 41.6047,17.8166,44.6486 ,, 125/228,118/221,166/269 150199123 7199,5807 2203 4300 6503 SO:0001583 missense AK092672 CCDS946.1, CCDS44214.1, CCDS44215.1, CCDS60245.1 1q22 2008-02-05 ENSG00000143401 ENSG00000143401 81611 ANP32 acidic nuclear phosphoproteins 16673 protein-coding gene gene with protein product 609611 NA 12438741 Standard NM_030920 NM_030920 NA Approved LANPL, MGC5350, LANP-L uc001etw.3 Q9BTT0 OTTHUMG00000012547 ENST00000533654.1:c.332C>A chr1.hg19:g.150199123G>T ENSP00000435215:p.Ala111Glu NA B4E0I6|E9PEA6|Q5TB18|Q5TB20|Q8N1S4|Q8WWW9 hg19 0.02 11.44424 ATCxCCA COVERED 1220 0.5586080586080586 445 0.9044715447154471 157 0.43370165745856354 288 0.5034965034965035 330 0.43535620052770446 T 0.022 -1.416738 0.01136 0.821834 0.416047 ENSG00000143401 ENST00000533654 T 0.00333 8.07 4.71 -3.24 0.05094 . . . . . T 0.00039 0.0001 . . . 0.09310 P 0.9999999999945053 B 0.02656 0.0 B 0.01281 0.0 T 0.06285 -1.0835 7 0.15066 T 0.55 . 1.3997 0.02268 0.3882:0.0817:0.2172:0.3129 rs7522034;rs60000686;rs7522034 111 E9PLC4 . E 111 ENSP00000435215:A111E ENSP00000435215:A111E A - 2 0 ANP32E 148465747 0.993000 0.37304 0.988000 0.46212 0.046000 0.14306 0.015000 0.13355 -0.475000 0.06852 -0.363000 0.07495 GCG NOVEL ANP32E-006 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000387927.1 3 27.624842 KEEP 0 1 32 103 3656 GG 1 1 0 - 11 70 386 0 0 24.15659 262 60 9446 493 ENST00000533654.1 0.040293 1 APH1A 51107 __UNKNOWN__ __UNKNOWN__ 1 150241230 150241230 __UNKNOWN__ 5'UTR SNP G G T rs2275780 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:150241230G>T ENST00000360244.4 - 0 473 APH1A_ENST00000369109.3_5'UTR|APH1A_ENST00000461320.1_5'UTR|APH1A_ENST00000414276.2_5'UTR|C1orf54_ENST00000369102.1_Intron NM_016022.3 NP_057106.2 Q96BI3 APH1A_HUMAN APH1A gamma secretase subunit NA NA amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|metanephros development (GO:0001656)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485) endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886) endopeptidase activity (GO:0004175) breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2) 9 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) GGTGGGAAGGGGGGTGGGGGC 0.682 NA G||| 754 0.150559 0.0045 0.1153 5008 , , NA 12941 0.38 NA 0.1372 False NA ,,, NA NA NA 2504 0.1503 NA NA NA NA 0 G , 99,3585 3,93,1746 12 16 15 , 4 0.4 1 dbSNP_100 15 952,7196 62,828,3184 no utr-5,utr-5 APH1A NM_001077628.2,NM_016022.3 , 65,921,4930 TT,TG,GG 11.6838,2.6873,8.8827 , , 150241230 1051,10781 1842 4074 5916 SO:0001623 5_prime_UTR_variant AF151835 CCDS41390.1, CCDS41391.1, CCDS58025.1 1q21.2 2013-05-01 2013-05-01 ENSG00000117362 ENSG00000117362 51107 29509 protein-coding gene gene with protein product 607629 anterior pharynx defective 1 homolog A (C. elegans) NA 10810093, 12110170 Standard NM_016022 NM_001077628 NA Approved APH-1A, CGI-78 uc001ety.2 Q96BI3 OTTHUMG00000012545 ENST00000360244.4:c.-20C>A chr1.hg19:g.150241230G>T NA B4DQK0|Q5TB22|Q5TB23|Q969R6|Q9BVG0|Q9Y386 hg19 CCDS41391.1 0.02 8.108548 AGGxGGG COVERED NOVEL APH1A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000035047.1 0 51.162901 KEEP 0 0 0 170 5884 GG 1 1 0 - 25 60 843 0 1 61.766218 208 60 7643 492 ENST00000360244.4 0.107296 1 C1orf54 79630 __UNKNOWN__ __UNKNOWN__ 1 150249101 150249101 __UNKNOWN__ Intron SNP C C A rs11205354 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:150249101C>A ENST00000369102.1 + 6 1070 C1orf54_ENST00000369098.3_Intron|C1orf54_ENST00000369099.3_Intron Q8WWF1 CA054_HUMAN chromosome 1 open reading frame 54 NA NA extracellular region (GO:0005576) breast(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1) 7 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) ACGTGGAATACATAGAGGGCT 0.473 NA A||| 3444 0.6877 0.8994 0.6859 5008 , , NA 17858 0.6915 NA 0.4751 False NA ,,, NA NA NA 2504 0.6176 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC017761 CCDS948.1, CCDS72905.1 1q21.2 2012-06-25 ENSG00000118292 ENSG00000118292 79630 26258 protein-coding gene gene with protein product NA 12477932 Standard NM_024579 NM_024579 NA Approved FLJ23221 uc001eud.3 Q8WWF1 OTTHUMG00000012546 ENST00000369102.1:c.300+61C>A chr1.hg19:g.150249101C>A NA Q9H5P3 hg19 CCDS948.1 0.02 2.4083 ATAxATA COVERED NOVEL C1orf54-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000035055.1 0 2.240701 KEEP 0 1 24 16 564 CC 0.999366 0.993792 0 + 5 60 186 0 0 13.297403 61 60 2336 88 ENST00000369102.1 0.075758 0.994422 C1orf51 0 __UNKNOWN__ __UNKNOWN__ 1 150255587 150255587 __UNKNOWN__ 5'UTR SNP T T C rs2147324 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:150255587T>C ENST00000290363.5 + 0 359 C1orf51_ENST00000469255.1_3'UTR|C1orf51_ENST00000369095.1_Intron|C1orf51_ENST00000369094.1_Intron NM_144697.2 NP_653298.1 Q8N365 CIART_HUMAN NA NA circadian regulation of gene expression (GO:0032922)|locomotor rhythm (GO:0045475)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) core promoter sequence-specific DNA binding (GO:0001046)|E-box binding (GO:0070888) endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2) 10 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) CCTTAAACTCTGGTTTCAAAC 0.478 NA C||| 3659 0.730631 0.8858 0.7262 5008 , , NA 17133 0.7788 NA 0.5596 False NA ,,, NA NA NA 2504 0.6503 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant NA NA NA NA ENST00000290363.5:c.-91T>C chr1.hg19:g.150255587T>C NA B2RD43|D3DV01|Q8N795|Q96MG6 hg19 CCDS949.1 0.02 3.891222 CTCxGGT COVERED NOVEL C1orf51-001 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000035058.1 3 6.353282 KEEP 0 1 34 33 1023 TT 0.999998 0.999966 0 + 5 60 169 0 0 10.647642 96 60 3538 156 ENST00000290363.5 0.049505 0.999968 C1orf51 0 __UNKNOWN__ __UNKNOWN__ 1 150258838 150258838 __UNKNOWN__ Intron SNP C C G rs1122967 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:150258838C>G ENST00000290363.5 + 5 1082 C1orf51_ENST00000369095.1_Intron|C1orf51_ENST00000369094.1_Intron NM_144697.2 NP_653298.1 Q8N365 CIART_HUMAN NA NA circadian regulation of gene expression (GO:0032922)|locomotor rhythm (GO:0045475)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) core promoter sequence-specific DNA binding (GO:0001046)|E-box binding (GO:0070888) endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2) 10 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) TCTCCCCTCTCTAGCATTTTC 0.438 NA G||| 3745 0.747804 0.9667 0.719 5008 , , NA 16648 0.7738 NA 0.5497 False NA ,,, NA NA NA 2504 0.6493 NA NA NA NA 0 G 3893,513 236.5+/-248.6 1723,447,33 124 123 123 -3.4 0 1 dbSNP_86 123 4387,4213 570.7+/-389.4 1116,2155,1029 no intron C1orf51 NM_144697.2 2839,2602,1062 GG,GC,CC 48.9884,11.6432,36.3371 150258838 8280,4726 2203 4300 6503 SO:0001627 intron_variant NA NA NA NA ENST00000290363.5:c.634-4C>G chr1.hg19:g.150258838C>G NA B2RD43|D3DV01|Q8N795|Q96MG6 hg19 CCDS949.1 0.02 6.569862 TCTxTAG COVERED NOVEL C1orf51-001 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000035058.1 2 17.757015 KEEP 0 0 0 59 2048 CC 1 1 0 + 6 60 217 0 0 12.96962 187 60 7120 302 ENST00000290363.5 0.031088 1 C1orf51 0 __UNKNOWN__ __UNKNOWN__ 1 150259400 150259400 __UNKNOWN__ 3'UTR SNP A A C rs9126 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:150259400A>C ENST00000290363.5 + 0 1641 C1orf51_ENST00000369095.1_3'UTR|C1orf51_ENST00000369094.1_3'UTR NM_144697.2 NP_653298.1 Q8N365 CIART_HUMAN NA NA circadian regulation of gene expression (GO:0032922)|locomotor rhythm (GO:0045475)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) core promoter sequence-specific DNA binding (GO:0001046)|E-box binding (GO:0070888) endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2) 10 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) GTGACTTCTAATTTGTGTAAA 0.383 NA A||| 2574 0.513978 0.3601 0.513 5008 , , NA 17498 0.7163 NA 0.4056 False NA ,,, NA NA NA 2504 0.6258 NA NA NA NA 0 A 1758,2648 499.6+/-364.5 332,1094,777 35 33 33 0.1 0.3 1 dbSNP_52 33 3274,5326 456.2+/-364.0 631,2012,1657 no utr-3 C1orf51 NM_144697.2 963,3106,2434 CC,CA,AA 38.0698,39.9001,38.6898 150259400 5032,7974 2203 4300 6503 SO:0001624 3_prime_UTR_variant NA NA NA NA ENST00000290363.5:c.*34A>C chr1.hg19:g.150259400A>C NA B2RD43|D3DV01|Q8N795|Q96MG6 hg19 CCDS949.1 0.02 14.171954 CTAxTTT COVERED NOVEL C1orf51-001 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000035058.1 3 12.002942 KEEP 0 2 69 64 1931 AA 1 1 0 + 27 60 1013 0 0 72.956717 321 60 11684 439 ENST00000290363.5 0.077586 1 MRPS21 54460 __UNKNOWN__ __UNKNOWN__ 1 150266338 150266338 __UNKNOWN__ Intron SNP T T A rs3818978 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:150266338T>A ENST00000309092.7 + 1 30 NM_031901.5 NP_114107.1 P82921 RT21_HUMAN mitochondrial ribosomal protein S21 NA NA translation (GO:0006412) mitochondrial small ribosomal subunit (GO:0005763) poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735) kidney(1)|large_intestine(1)|lung(1)|pancreas(1) 4 Lung NSC(24;5.57e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) TGTGCAGGGTTTGGGGAAAGG 0.587 NA T||| 2466 0.492412 0.2784 0.5043 5008 , , NA 18102 0.7183 NA 0.4076 False NA ,,, NA NA NA 2504 0.6278 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB051353 CCDS950.1 1q21 2012-09-13 ENSG00000187145 54460 Mitochondrial ribosomal proteins / small subunits 14046 protein-coding gene gene with protein product 611984 NA Standard NM_018997 NM_031901 NA Approved uc001euk.3 P82921 OTTHUMG00000012544 ENST00000309092.7:c.-33+20T>A chr1.hg19:g.150266338T>A NA Q5TB11|Q9BST6 hg19 CCDS950.1 0.02 5.962206 GGTxTGG COVERED NOVEL MRPS21-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000035046.2 1 27.668088 KEEP 0 0 0 92 2642 TT 1 1 0 + 11 60 339 0 0 21.817275 148 60 5111 300 ENST00000309092.7 0.069182 1 MRPS21 54460 __UNKNOWN__ __UNKNOWN__ 1 150276429 150276429 __UNKNOWN__ Intron SNP G G A rs471738 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:150276429G>A ENST00000369084.5 + 2 530 MRPS21_ENST00000309092.7_Intron NM_018997.3 NP_061870.1 P82921 RT21_HUMAN mitochondrial ribosomal protein S21 NA NA translation (GO:0006412) mitochondrial small ribosomal subunit (GO:0005763) poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735) kidney(1)|large_intestine(1)|lung(1)|pancreas(1) 4 Lung NSC(24;5.57e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) ATGTAATACTGTTTGATCAGT 0.463 NA G||| 3000 0.599042 0.5711 0.6297 5008 , , NA 19636 0.7748 NA 0.4085 False NA ,,, NA NA NA 2504 0.6299 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB051353 CCDS950.1 1q21 2012-09-13 ENSG00000187145 54460 Mitochondrial ribosomal proteins / small subunits 14046 protein-coding gene gene with protein product 611984 NA Standard NM_018997 NM_031901 NA Approved uc001euk.3 P82921 OTTHUMG00000012544 ENST00000369084.5:c.84-4053G>A chr1.hg19:g.150276429G>A NA Q5TB11|Q9BST6 hg19 CCDS950.1 0.02 1.863087 ACTxTTT COVERED NOVEL MRPS21-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000035813.1 1 10.233459 KEEP 0 0 0 34 1218 GG 0.999998 0.999905 0 + 5 60 183 0 0 12.204988 89 60 3368 150 ENST00000369084.5 0.053191 0.999907 MRPS21 54460 __UNKNOWN__ __UNKNOWN__ 1 150276461 150276461 __UNKNOWN__ Intron SNP G G A rs386635369|rs471657 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:150276461G>A ENST00000369084.5 + 2 530 MRPS21_ENST00000309092.7_Intron NM_018997.3 NP_061870.1 P82921 RT21_HUMAN mitochondrial ribosomal protein S21 NA NA translation (GO:0006412) mitochondrial small ribosomal subunit (GO:0005763) poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735) kidney(1)|large_intestine(1)|lung(1)|pancreas(1) 4 Lung NSC(24;5.57e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) GACATCAgccgggcgtggtgg 0.498 NA G||| 2582 0.515575 0.3616 0.5159 5008 , , NA 18837 0.7183 NA 0.4056 False NA ,,, NA NA NA 2504 0.6278 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB051353 CCDS950.1 1q21 2012-09-13 ENSG00000187145 54460 Mitochondrial ribosomal proteins / small subunits 14046 protein-coding gene gene with protein product 611984 NA Standard NM_018997 NM_031901 NA Approved uc001euk.3 P82921 OTTHUMG00000012544 ENST00000369084.5:c.84-4021G>A chr1.hg19:g.150276461G>A NA Q5TB11|Q9BST6 hg19 CCDS950.1 0.02 2.208602 GCCxGGC COVERED NOVEL MRPS21-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000035813.1 4 8.125883 KEEP 0 0 0 27 928 GG 0.999988 0.99441 0 + 4 60 152 0 0 10.556582 62 60 2188 106 ENST00000369084.5 0.060606 0.994422 MRPS21 54460 __UNKNOWN__ __UNKNOWN__ 1 150280801 150280801 __UNKNOWN__ 3'UTR SNP G G C rs8006 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:150280801G>C ENST00000369084.5 + 0 850 MRPS21_ENST00000309092.7_3'UTR NM_018997.3 NP_061870.1 P82921 RT21_HUMAN mitochondrial ribosomal protein S21 NA NA translation (GO:0006412) mitochondrial small ribosomal subunit (GO:0005763) poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735) kidney(1)|large_intestine(1)|lung(1)|pancreas(1) 4 Lung NSC(24;5.57e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) TCCAAATATAGAAACAATCCC 0.383 NA G||| 2998 0.598642 0.5703 0.6297 5008 , , NA 19294 0.7748 NA 0.4085 False NA ,,, NA NA NA 2504 0.6288 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB051353 CCDS950.1 1q21 2012-09-13 ENSG00000187145 54460 Mitochondrial ribosomal proteins / small subunits 14046 protein-coding gene gene with protein product 611984 NA Standard NM_018997 NM_031901 NA Approved uc001euk.3 P82921 OTTHUMG00000012544 ENST00000369084.5:c.*139G>C chr1.hg19:g.150280801G>C NA Q5TB11|Q9BST6 hg19 CCDS950.1 0.02 22.98194 ATAxAAA COVERED NOVEL MRPS21-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000035813.1 2 24.68093 KEEP 0 0 0 82 2950 GG 1 1 0 + 37 60 1349 1 0 95.241602 464 60 17597 718 ENST00000369084.5 0.073852 1 TARS2 80222 __UNKNOWN__ __UNKNOWN__ 1 150459925 150459925 __UNKNOWN__ 5'UTR SNP A A G rs181816509 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:150459925A>G ENST00000369064.3 + 0 33 TARS2_ENST00000606933.1_5'UTR|TARS2_ENST00000369054.2_5'UTR|TARS2_ENST00000438568.2_5'UTR NM_025150.3 NP_079426.2 Q9BW92 SYTM_HUMAN threonyl-tRNA synthetase 2, mitochondrial (putative) NA NA gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418) mitochondrion (GO:0005739) ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829) cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 35 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) L-Threonine(DB00156) GTGTGAAGGAACATGGCCCTG 0.547 NA A||| 2 0.000399361 0.0 0.0 5008 , , NA 18020 0.002 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 139 113 122 NA NA 1 NA 150459925 2203 4300 6503 SO:0001623 5_prime_UTR_variant BC007824 CCDS952.1, CCDS60251.1, CCDS60252.1 1q21.2 2012-10-26 2007-02-23 2007-02-23 ENSG00000143374 ENSG00000143374 80222 6.1.1.3 Aminoacyl tRNA synthetases / Class II 30740 protein-coding gene gene with protein product threonine tRNA ligase 2, mitochondrial 612805 threonyl-tRNA synthetase-like 1 TARSL1 NA Standard NM_025150 NM_001271895 NA Approved FLJ12528 uc001euq.4 Q9BW92 OTTHUMG00000012809 ENST00000369064.3:c.-2A>G chr1.hg19:g.150459925A>G NA Q53GW7|Q96I50|Q9H9V2 hg19 CCDS952.1 0.02 26.50703 GGAxCAT COVERED NOVEL TARS2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000035847.1 6 60.173399 KEEP 0 0 0 200 6218 AA 1 1 0 + 22 60 847 0 0 54.85318 542 60 19467 967 ENST00000369064.3 0.039007 1 TARS2 80222 __UNKNOWN__ __UNKNOWN__ 1 150471157 150471157 __UNKNOWN__ Intron SNP T T A rs12023021 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:150471157T>A ENST00000369064.3 + 11 1435 TARS2_ENST00000369054.2_Intron|TARS2_ENST00000463555.1_Intron|TARS2_ENST00000606933.1_Intron|TARS2_ENST00000438568.2_Intron NM_025150.3 NP_079426.2 Q9BW92 SYTM_HUMAN threonyl-tRNA synthetase 2, mitochondrial (putative) NA NA gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418) mitochondrion (GO:0005739) ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829) cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 35 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) L-Threonine(DB00156) TTTCCCTGGCTCCACCAAAGC 0.502 NA T||| 232 0.0463259 0.0023 0.0288 5008 , , NA 19480 0.121 NA 0.0328 False NA ,,, NA NA NA 2504 0.0552 NA NA NA NA 0 T 26,4380 30.8+/-60.4 0,26,2177 41 44 43 1.2 0 1 dbSNP_120 43 279,8321 104.2+/-165.2 7,265,4028 no intron TARS2 NM_025150.3 7,291,6205 AA,AT,TT 3.2442,0.5901,2.3451 150471157 305,12701 2203 4300 6503 SO:0001627 intron_variant BC007824 CCDS952.1, CCDS60251.1, CCDS60252.1 1q21.2 2012-10-26 2007-02-23 2007-02-23 ENSG00000143374 ENSG00000143374 80222 6.1.1.3 Aminoacyl tRNA synthetases / Class II 30740 protein-coding gene gene with protein product threonine tRNA ligase 2, mitochondrial 612805 threonyl-tRNA synthetase-like 1 TARSL1 NA Standard NM_025150 NM_001271895 NA Approved FLJ12528 uc001euq.4 Q9BW92 OTTHUMG00000012809 ENST00000369064.3:c.1401+17T>A chr1.hg19:g.150471157T>A NA Q53GW7|Q96I50|Q9H9V2 hg19 CCDS952.1 0.02 12.354038 GGCxCCA COVERED NOVEL TARS2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000035847.1 0 28.287155 KEEP 0 0 0 94 3046 TT 1 1 0 + 16 60 563 0 0 36.702531 289 60 10566 503 ENST00000369064.3 0.052459 1 ADAMTSL4 54507 __UNKNOWN__ __UNKNOWN__ 1 150531302 150531302 __UNKNOWN__ Intron SNP C C T rs587764546 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:150531302C>T ENST00000369038.2 + 14 2760 ADAMTSL4_ENST00000271643.4_Intron|ADAMTSL4_ENST00000369039.5_Intron Q6UY14 ATL4_HUMAN ADAMTS-like 4 NA NA apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065) interstitial matrix (GO:0005614) metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020) breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3) 32 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) TAGGATTCCTCGTCCGGGCCT 0.577 NA C||| 5 0.000998403 0.0 0.0 5008 , , NA 15310 0.005 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC027478 CCDS955.1, CCDS30852.1, CCDS72908.1 1q21.2 2008-02-05 2005-12-01 2005-12-01 ENSG00000143382 ENSG00000143382 54507 19706 protein-coding gene gene with protein product 610113 thrombospondin repeat containing 1 TSRC1 NA 12706885 Standard NM_019032 NM_019032 NA Approved DKFZP434K1772 uc001eux.3 Q6UY14 OTTHUMG00000034863 ENST00000369038.2:c.2560-136C>T chr1.hg19:g.150531302C>T NA B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6 hg19 CCDS955.1 0.02 6.62157 CCTxGTC COVERED NOVEL ADAMTSL4-001 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000084395.4 2 30.69632 KEEP 0 0 0 102 3427 CC 1 1 0 + 7 60 259 0 0 16.898077 146 60 4897 315 ENST00000369038.2 0.045752 1 GOLPH3L 55204 __UNKNOWN__ __UNKNOWN__ 1 150618839 150618839 __UNKNOWN__ 3'UTR SNP T T C rs3768008 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:150618839T>C ENST00000271732.3 - 0 2860 NM_018178.5 NP_060648.2 Q9H4A5 GLP3L_HUMAN golgi phosphoprotein 3-like NA NA Golgi organization (GO:0007030)|positive regulation of protein secretion (GO:0050714) Golgi membrane (GO:0000139)|trans-Golgi network membrane (GO:0032588) phosphatidylinositol-4-phosphate binding (GO:0070273) breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1) 8 all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171) AAATAAACACTAAGAGTTGCA 0.363 NA T||| 184 0.0367412 0.0 0.0058 5008 , , NA 17937 0.1716 NA 0.001 False NA ,,, NA NA NA 2504 0.0061 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ296153 CCDS966.1 1q21 2008-02-05 ENSG00000143457 ENSG00000143457 55204 24882 protein-coding gene gene with protein product 612208 NA Standard NM_018178 NM_018178 NA Approved GPP34R uc001evj.2 Q9H4A5 OTTHUMG00000035009 ENST00000271732.3:c.*1958A>G chr1.hg19:g.150618839T>C NA B1AN09|B7Z6N3|Q9NVK0 hg19 CCDS966.1 0.02 7.080525 CACxAAG COVERED NOVEL GOLPH3L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000084734.1 1 12.637114 KEEP 0 0 0 42 1294 TT 1 1 0 - 6 60 236 0 0 15.209405 163 60 5858 245 ENST00000271732.3 0.035503 1 GOLPH3L 55204 __UNKNOWN__ __UNKNOWN__ 1 150620569 150620569 __UNKNOWN__ 3'UTR SNP C C G rs3087960 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:150620569C>G ENST00000271732.3 - 0 1130 NM_018178.5 NP_060648.2 Q9H4A5 GLP3L_HUMAN golgi phosphoprotein 3-like NA NA Golgi organization (GO:0007030)|positive regulation of protein secretion (GO:0050714) Golgi membrane (GO:0000139)|trans-Golgi network membrane (GO:0032588) phosphatidylinositol-4-phosphate binding (GO:0070273) breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1) 8 all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171) GTGTGTGTGGCTTCACCCAGT 0.428 NA G||| 2046 0.408546 0.2852 0.4597 5008 , , NA 17516 0.3571 NA 0.4314 False NA ,,, NA NA NA 2504 0.5685 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ296153 CCDS966.1 1q21 2008-02-05 ENSG00000143457 ENSG00000143457 55204 24882 protein-coding gene gene with protein product 612208 NA Standard NM_018178 NM_018178 NA Approved GPP34R uc001evj.2 Q9H4A5 OTTHUMG00000035009 ENST00000271732.3:c.*228G>C chr1.hg19:g.150620569C>G NA B1AN09|B7Z6N3|Q9NVK0 hg19 CCDS966.1 0.02 4.896184 TGGxTTC COVERED NOVEL GOLPH3L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000084734.1 1 8.4275 KEEP 0 0 0 28 995 CC 0.999997 0.999996 0 - 9 60 346 0 0 24.915784 114 60 4262 174 ENST00000271732.3 0.073171 0.999999 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 150670484 150670484 __UNKNOWN__ IGR SNP T T G rs6700022 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:150670484T>G NA NA GOLPH3L (854 upstream) : HORMAD1 (51 downstream) NA NA NA TTCAAATGAATGAAGCCATAT 0.353 NA T||| 2012 0.401757 0.2844 0.451 5008 , , NA 16876 0.3571 NA 0.4105 False NA ,,, NA NA NA 2504 0.5624 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.150670484T>G NA hg19 0.02 -0.219333 GAAxGAA COVERED NOVEL 0 0 6.016522 KEEP 0 0 0 20 587 TT 0.999863 0.552812 0 3 60 114 0 0 8.848046 22 60 829 54 0.12 0.552887 HORMAD1 84072 __UNKNOWN__ __UNKNOWN__ 1 150679033 150679033 __UNKNOWN__ Missense_Mutation SNP G G A rs1336900 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:150679033G>A ENST00000361824.2 - 10 905 c.800C>T c.(799-801)aCa>aTa p.T267I HORMAD1_ENST00000368995.4_Missense_Mutation_p.T187I|HORMAD1_ENST00000368993.2_Missense_Mutation_p.T267I|HORMAD1_ENST00000322343.7_Missense_Mutation_p.T260I NM_032132.4 NP_115508.2 Q86X24 HORM1_HUMAN HORMA domain containing 1 267 NA T -> I (in dbSNP:rs1336900). {ECO:0000269|PubMed:15489334}. blastocyst development (GO:0001824)|meiotic DNA double-strand break formation (GO:0042138)|meiotic nuclear division (GO:0007126)|meiotic recombination checkpoint (GO:0051598)|meiotic sister chromatid cohesion (GO:0051177)|oogenesis (GO:0048477)|regulation of homologous chromosome segregation (GO:0060629)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130) chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3) 16 all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171) ACTTACACTTGTATAATGCTC 0.289 NA G||| 1931 0.385583 0.2269 0.4467 5008 , , NA 18017 0.3571 NA 0.4095 False NA ,,, NA NA NA 2504 0.5613 NA NA NA NA 0 G ILE/THR,ILE/THR 1157,3249 406.6+/-333.9 156,845,1202 131 125 127 779,800 -1.2 0 1 dbSNP_88 127 3356,5242 496.4+/-374.3 655,2046,1598 yes missense,missense HORMAD1 NM_001199829.1,NM_032132.4 89,89 811,2891,2800 AA,AG,GG 39.0323,26.2596,34.7047 benign,benign 260/388,267/395 150679033 4513,8491 2203 4299 6502 SO:0001583 missense AL136755 CCDS967.1, CCDS55633.1 1q21.2 2009-03-09 ENSG00000143452 ENSG00000143452 84072 25245 protein-coding gene gene with protein product cancer/testis antigen 46 609824 NA 11230166, 15999985 Standard NM_032132 NM_032132 NA Approved DKFZP434A1315, CT46 uc001evk.2 Q86X24 OTTHUMG00000035005 ENST00000361824.2:c.800C>T chr1.hg19:g.150679033G>A ENSP00000355167:p.Thr267Ile NA A6NMK2|B3KUK1|Q4G114|Q5T5I3|Q5T5I4|Q5T5I5|Q6FIC1|Q9H0K8 hg19 CCDS967.1 0.02 30.101992 CTTxTAT COVERED 796 0.36446886446886445 124 0.25203252032520324 162 0.44751381215469616 202 0.3531468531468531 308 0.40633245382585753 G 1.299 -0.605312 0.03717 0.262596 0.390323 ENSG00000143452 ENST00000368995;ENST00000368993;ENST00000368992;ENST00000540570;ENST00000322343;ENST00000361824 T;T;T;T 0.42900 0.96;1.53;1.53;1.54 5.19 -1.24 0.09435 . 0.527882 0.19357 N 0.116243 T 0.03871 0.0109 N 0.02916 -0.46 0.80722 P 0.0 B;B;B 0.02656 0.0;0.0;0.0 B;B;B 0.04013 0.001;0.0;0.0 T 0.33954 -0.9848 9 0.17369 T 0.5 -4.4113 2.2235 0.03978 0.4694:0.1209:0.2923:0.1174 rs1336900;rs17600196;rs52823371;rs59645580;rs1336900 187;260;267 Q86X24-4;Q86X24-2;Q86X24 .;.;HORM1_HUMAN I 187;267;196;187;260;267 ENSP00000357991:T187I;ENSP00000357989:T267I;ENSP00000326489:T260I;ENSP00000355167:T267I ENSP00000326489:T260I T - 2 0 HORMAD1 148945657 0.039000 0.19947 0.037000 0.18230 0.469000 0.32828 0.546000 0.23284 -0.101000 0.12219 -1.363000 0.01210 ACA NOVEL HORMAD1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000084722.1 9 29.796765 KEEP 0 0 0 99 3529 GG 1 1 0 - 44 60 1629 0 0 113.896807 610 60 23581 951 ENST00000361824.2 0.067278 1 CTSS 1520 __UNKNOWN__ __UNKNOWN__ 1 150727539 150727539 __UNKNOWN__ Missense_Mutation SNP G G A rs2230061 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:150727539G>A ENST00000368985.3 - 4 597 c.337C>T c.(337-339)Cgg>Tgg p.R113W CTSS_ENST00000448301.2_Intron|CTSS_ENST00000480760.1_5'UTR NM_001199739.1|NM_004079.4 NP_001186668.1|NP_004070.3 P25774 CATS_HUMAN cathepsin S 113 NA R -> W (in dbSNP:rs2230061). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.5}. adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|basement membrane disassembly (GO:0034769)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of inflammatory response (GO:0050729)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224) endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane (GO:0016020) collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394) p.R113W(1) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1) 15 all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171) GGCAATATCCGATTAGGGTTT 0.433 NA G||| 1915 0.382388 0.261 0.4366 5008 , , NA 20296 0.3532 NA 0.3698 False NA ,,, NA NA NA 2504 0.5511 NA NA NA NA 1 Substitution - Missense(1) stomach(1) G ,TRP/ARG 1229,3177 426.4+/-341.1 167,895,1141 214 206 209 ,337 1.2 0 1 dbSNP_98 209 3052,5548 470.0+/-367.7 551,1950,1799 yes intron,missense CTSS NM_001199739.1,NM_004079.4 ,101 718,2845,2940 AA,AG,GG 35.4884,27.8938,32.9156 ,possibly-damaging ,113/332 150727539 4281,8725 2203 4300 6503 SO:0001583 missense M90696 CCDS968.1, CCDS55634.1 1q21 2008-02-05 ENSG00000163131 ENSG00000163131 1520 3.4.22.27 Cathepsins 2545 protein-coding gene gene with protein product 116845 NA 1373132 Standard NM_004079 NM_001199739 NA Approved uc001evn.3 P25774 OTTHUMG00000035010 ENST00000368985.3:c.337C>T chr1.hg19:g.150727539G>A ENSP00000357981:p.Arg113Trp NA B4DWC9|D3DV05|Q5T5I0|Q6FHS5|Q9BUG3 hg19 CCDS968.1 0.02 13.285399 TCCxATT COVERED 768 0.3516483516483517 133 0.2703252032520325 156 0.430939226519337 202 0.3531468531468531 277 0.3654353562005277 G 9.045 0.990707 0.18966 0.278938 0.354884 ENSG00000163131 ENST00000368985 T 0.22539 1.95 5.47 1.23 0.21249 . 3.731250 0.00357 N 0.000022 T 0.05868 0.0153 L 0.37697 1.125 0.80722 P 0.0 P 0.48016 0.904 B 0.38655 0.278 T 0.14448 -1.0472 9 0.40728 T 0.16 . 4.546 0.12081 0.0765:0.1336:0.5144:0.2756 rs2230061;rs10888390;rs17357778;rs17607024;rs17849640;rs52835690;rs60119206;rs10888390 113 P25774 CATS_HUMAN W 113 ENSP00000357981:R113W ENSP00000357981:R113W R - 1 2 CTSS 148994163 0.004000 0.15560 0.009000 0.14445 0.359000 0.29487 0.427000 0.21379 -0.025000 0.13918 0.591000 0.81541 CGG NOVEL CTSS-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000084737.1 0 17.45533 KEEP 0 0 0 58 1946 GG 1 1 0 - 20 60 715 1 0 48.456038 304 60 10595 459 ENST00000368985.3 0.061728 1 CTSS 1520 __UNKNOWN__ __UNKNOWN__ 1 150730279 150730279 __UNKNOWN__ Intron SNP A A G rs2275235 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:150730279A>G ENST00000368985.3 - 3 510 CTSS_ENST00000448301.2_Intron|CTSS_ENST00000480760.1_Intron NM_001199739.1|NM_004079.4 NP_001186668.1|NP_004070.3 P25774 CATS_HUMAN cathepsin S NA NA adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|basement membrane disassembly (GO:0034769)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of inflammatory response (GO:0050729)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224) endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane (GO:0016020) collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1) 15 all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171) GGGGAGACAGAAAGGAAATGA 0.403 NA A||| 1970 0.393371 0.2587 0.438 5008 , , NA 18947 0.4058 NA 0.3718 False NA ,,, NA NA NA 2504 0.5532 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M90696 CCDS968.1, CCDS55634.1 1q21 2008-02-05 ENSG00000163131 ENSG00000163131 1520 3.4.22.27 Cathepsins 2545 protein-coding gene gene with protein product 116845 NA 1373132 Standard NM_004079 NM_001199739 NA Approved uc001evn.3 P25774 OTTHUMG00000035010 ENST00000368985.3:c.249+54T>C chr1.hg19:g.150730279A>G NA B4DWC9|D3DV05|Q5T5I0|Q6FHS5|Q9BUG3 hg19 CCDS968.1 0.02 6.815482 CAGxAAG COVERED NOVEL CTSS-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000084737.1 0 7.222058 KEEP 0 0 0 24 768 AA 0.999909 0.999909 0 - 12 60 434 0 0 30.456322 153 60 5451 212 ENST00000368985.3 0.072727 1 CTSS 1520 __UNKNOWN__ __UNKNOWN__ 1 150730415 150730415 __UNKNOWN__ Silent SNP T T C rs187243641 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:150730415T>C ENST00000368985.3 - 3 428 c.168A>G c.(166-168)ctA>ctG p.L56L CTSS_ENST00000448301.2_Silent_p.L56L|CTSS_ENST00000480760.1_5'UTR NM_001199739.1|NM_004079.4 NP_001186668.1|NP_004070.3 P25774 CATS_HUMAN cathepsin S 56 NA adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|basement membrane disassembly (GO:0034769)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of inflammatory response (GO:0050729)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224) endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane (GO:0016020) collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1) 15 all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171) TCACAAACTTTAGATTCTTTT 0.403 NA T||| 1 0.000199681 0.0 0.0 5008 , , NA 20085 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 122 108 113 NA NA 1 NA 150730415 2203 4300 6503 SO:0001819 synonymous_variant M90696 CCDS968.1, CCDS55634.1 1q21 2008-02-05 ENSG00000163131 ENSG00000163131 1520 3.4.22.27 Cathepsins 2545 protein-coding gene gene with protein product 116845 NA 1373132 Standard NM_004079 NM_001199739 NA Approved uc001evn.3 P25774 OTTHUMG00000035010 ENST00000368985.3:c.168A>G chr1.hg19:g.150730415T>C NA B4DWC9|D3DV05|Q5T5I0|Q6FHS5|Q9BUG3 hg19 CCDS968.1 0.02 9.015332 CTTxAGA COVERED NOVEL CTSS-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000084737.1 2 10.832169 KEEP 0 0 0 36 1114 TT 0.999999 0.999999 0 - 13 60 498 0 0 34.252752 219 60 7844 318 ENST00000368985.3 0.056034 1 CTSK 1513 __UNKNOWN__ __UNKNOWN__ 1 150779827 150779827 __UNKNOWN__ Intron SNP A A G rs587669341 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:150779827A>G ENST00000271651.3 - 2 110 NM_000396.3 NP_000387.1 P43235 CATK_HUMAN cathepsin K NA NA bone resorption (GO:0045453)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|intramembranous ossification (GO:0001957)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224) endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615) collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|proteoglycan binding (GO:0043394) cervix(1)|endometrium(1)|lung(4)|skin(1) 7 all_cancers(9;2.32e-51)|all_epithelial(9;3.89e-42)|all_lung(15;4.59e-35)|Lung NSC(24;1.7e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Colorectal(459;0.171)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211) TCTTGTCAGAAGAGGACAAGG 0.413 NA A||| 1 0.000199681 0.0 0.0 5008 , , NA 20764 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC016058 CCDS969.1 1q21 2008-02-05 2006-12-05 ENSG00000143387 ENSG00000143387 1513 Cathepsins 2536 protein-coding gene gene with protein product 601105 cathepsin K (pycnodysostosis) CTSO2, CTSO, PYCD NA 7818555 Standard NM_000396 NM_000396 NA Approved PKND uc001evp.2 P43235 OTTHUMG00000035008 ENST00000271651.3:c.1-545T>C chr1.hg19:g.150779827A>G NA Q6FHS6 hg19 CCDS969.1 0.02 19.539854 AGAxGAG COVERED . . . . . . . . . . A 15.95 2.982601 0.53827 . . ENSG00000143387 ENST00000443913 T 0.78924 -1.22 4.17 4.17 0.49024 . . . . . T 0.74275 0.3695 . . . 0.34164 D 0.669033 . . . . . . T 0.77362 -0.2616 6 0.62326 D 0.03 . 9.8918 0.41294 1.0:0.0:0.0:0.0 . . . . P 25 ENSP00000405083:L25P ENSP00000405083:L25P L - 2 0 CTSK 149046451 0.002000 0.14202 0.006000 0.13384 0.702000 0.40608 1.461000 0.35255 2.127000 0.65507 0.418000 0.28097 CTT NOVEL CTSK-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000084732.1 3 29.790608 KEEP 0 0 0 99 3137 AA 1 1 0 - 19 60 734 0 0 49.177605 386 60 13849 567 ENST00000271651.3 0.046914 1 ARNT 405 __UNKNOWN__ __UNKNOWN__ 1 150783985 150783985 __UNKNOWN__ 3'UTR SNP T T C rs11552229 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:150783985T>C ENST00000354396.2 - 0 2887 ARNT_ENST00000358595.5_3'UTR P27540 ARNT_HUMAN aryl hydrocarbon receptor nuclear translocator NA NA cell differentiation (GO:0030154)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) aryl hydrocarbon receptor activity (GO:0004874)|aryl hydrocarbon receptor binding (GO:0017162)|enhancer binding (GO:0035326)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134) central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1) 34 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211) CTTACTCACATGTTTCTTTCC 0.438 NA T ETV6 AML T||| 1971 0.39357 0.2579 0.438 5008 , , NA 19501 0.3998 NA 0.3738 False NA ,,, NA NA NA 2504 0.5593 NA NA NA Dom yes 1 1q21 405 aryl hydrocarbon receptor nuclear translocator L 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF001307 CCDS970.1, CCDS971.1, CCDS65641.1, CCDS65642.1 1q21 2013-05-21 ENSG00000143437 ENSG00000143437 405 Basic helix-loop-helix proteins 700 protein-coding gene gene with protein product 126110 NA Standard NM_001668 NA Approved HIF-1beta, bHLHe2 uc001evr.2 P27540 OTTHUMG00000035011 ENST00000354396.2:c.*512A>G chr1.hg19:g.150783985T>C NA B2R9H1|C4AMA1|F8WAP6|Q59ED4|Q5QP39|Q8NDC7 hg19 0.02 4.762675 ACAxGTT COVERED NOVEL ARNT-010 NOVEL basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000360630.1 4 8.726192 KEEP 0 0 0 29 909 TT 0.999997 0.999978 0 - 10 60 360 0 0 26.477895 94 70 3417 161 ENST00000354396.2 0.096154 0.999981 ARNT 405 __UNKNOWN__ __UNKNOWN__ 1 150804429 150804429 __UNKNOWN__ Intron SNP A A C rs10305704 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:150804429A>C ENST00000354396.2 - 10 881 ARNT_ENST00000358595.5_Intron|ARNT_ENST00000515192.1_Intron|ARNT_ENST00000505755.1_Intron|ARNT_ENST00000468970.1_Intron P27540 ARNT_HUMAN aryl hydrocarbon receptor nuclear translocator NA NA cell differentiation (GO:0030154)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) aryl hydrocarbon receptor activity (GO:0004874)|aryl hydrocarbon receptor binding (GO:0017162)|enhancer binding (GO:0035326)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134) central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1) 34 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211) CTACCCGTAAAACTCAAAGGG 0.398 NA T ETV6 AML A||| 1968 0.392971 0.2557 0.4366 5008 , , NA 17103 0.4008 NA 0.3738 False NA ,,, NA NA NA 2504 0.5593 NA NA NA Dom yes 1 1q21 405 aryl hydrocarbon receptor nuclear translocator L 0 A ,, 1222,3182 172,878,1152 16 18 18 ,, 3.2 0 1 dbSNP_119 18 3033,5567 551,1931,1818 no intron,intron,intron ARNT NM_001197325.1,NM_001668.3,NM_178427.2 ,, 723,2809,2970 CC,CA,AA 35.2674,27.7475,32.7207 ,, ,, 150804429 4255,8749 2202 4300 6502 SO:0001627 intron_variant AF001307 CCDS970.1, CCDS971.1, CCDS65641.1, CCDS65642.1 1q21 2013-05-21 ENSG00000143437 ENSG00000143437 405 Basic helix-loop-helix proteins 700 protein-coding gene gene with protein product 126110 NA Standard NM_001668 NA Approved HIF-1beta, bHLHe2 uc001evr.2 P27540 OTTHUMG00000035011 ENST00000354396.2:c.870-50T>G chr1.hg19:g.150804429A>C NA B2R9H1|C4AMA1|F8WAP6|Q59ED4|Q5QP39|Q8NDC7 hg19 0.02 4.329428 TAAxACT COVERED NOVEL ARNT-010 NOVEL basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000360630.1 2 18.050541 KEEP 0 0 0 60 1777 AA 1 1 0 - 12 60 456 0 0 33.864552 120 60 4325 239 ENST00000354396.2 0.090909 1 ARNT 405 __UNKNOWN__ __UNKNOWN__ 1 150808889 150808889 __UNKNOWN__ Silent SNP C C G rs2228099 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:150808889C>G ENST00000354396.2 - 7 578 c.567G>C c.(565-567)gtG>gtC p.V189V ARNT_ENST00000358595.5_Silent_p.V189V|ARNT_ENST00000515192.1_Silent_p.V180V|ARNT_ENST00000505755.1_Silent_p.V174V|ARNT_ENST00000468970.1_5'UTR P27540 ARNT_HUMAN aryl hydrocarbon receptor nuclear translocator 189 PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}. NA cell differentiation (GO:0030154)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) aryl hydrocarbon receptor activity (GO:0004874)|aryl hydrocarbon receptor binding (GO:0017162)|enhancer binding (GO:0035326)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134) p.V189V(1) central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1) 34 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211) CGGAGTCAGACACATACACCA 0.463 NA T ETV6 AML G||| 2359 0.471046 0.5174 0.4625 5008 , , NA 16795 0.4018 NA 0.3926 False NA ,,, NA NA NA 2504 0.5665 NA NA NA Dom yes 1 1q21 405 aryl hydrocarbon receptor nuclear translocator L 1 Substitution - coding silent(1) stomach(1) G ,, 2239,2167 583.2+/-385.8 564,1111,528 102 85 91 522,567,522 1 1 1 dbSNP_98 91 3164,5436 654.2+/-401.1 597,1970,1733 no coding-synonymous,coding-synonymous,coding-synonymous ARNT NM_001197325.1,NM_001668.3,NM_178427.2 ,, 1161,3081,2261 GG,GC,CC 36.7907,49.1829,41.5424 ,, 174/774,189/790,174/775 150808889 5403,7603 2203 4300 6503 SO:0001819 synonymous_variant AF001307 CCDS970.1, CCDS971.1, CCDS65641.1, CCDS65642.1 1q21 2013-05-21 ENSG00000143437 ENSG00000143437 405 Basic helix-loop-helix proteins 700 protein-coding gene gene with protein product 126110 NA Standard NM_001668 NA Approved HIF-1beta, bHLHe2 uc001evr.2 P27540 OTTHUMG00000035011 ENST00000354396.2:c.567G>C chr1.hg19:g.150808889C>G NA B2R9H1|C4AMA1|F8WAP6|Q59ED4|Q5QP39|Q8NDC7 hg19 0.02 7.252142 AGAxACA COVERED NOVEL ARNT-010 NOVEL basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000360630.1 2 20.466404 KEEP 0 0 0 68 2395 CC 1 1 0 - 11 60 425 0 0 29.379756 184 60 6918 341 ENST00000354396.2 0.05641 1 ARNT 405 __UNKNOWN__ __UNKNOWN__ 1 150825511 150825511 __UNKNOWN__ Intron SNP C C T rs10305673 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:150825511C>T ENST00000354396.2 - 3 149 ARNT_ENST00000358595.5_Intron|ARNT_ENST00000515192.1_Intron|ARNT_ENST00000505755.1_Intron P27540 ARNT_HUMAN aryl hydrocarbon receptor nuclear translocator NA NA cell differentiation (GO:0030154)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) aryl hydrocarbon receptor activity (GO:0004874)|aryl hydrocarbon receptor binding (GO:0017162)|enhancer binding (GO:0035326)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134) central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1) 34 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211) aatcccagcactttggaaggc 0.478 NA T ETV6 AML C||| 1967 0.392772 0.2557 0.4366 5008 , , NA 18167 0.4008 NA 0.3728 False NA ,,, NA NA NA 2504 0.5593 NA NA NA Dom yes 1 1q21 405 aryl hydrocarbon receptor nuclear translocator L 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF001307 CCDS970.1, CCDS971.1, CCDS65641.1, CCDS65642.1 1q21 2013-05-21 ENSG00000143437 ENSG00000143437 405 Basic helix-loop-helix proteins 700 protein-coding gene gene with protein product 126110 NA Standard NM_001668 NA Approved HIF-1beta, bHLHe2 uc001evr.2 P27540 OTTHUMG00000035011 ENST00000354396.2:c.138-229G>A chr1.hg19:g.150825511C>T NA B2R9H1|C4AMA1|F8WAP6|Q59ED4|Q5QP39|Q8NDC7 hg19 0.02 1.919059 GCAxTTT COVERED NOVEL ARNT-010 NOVEL basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000360630.1 2 7.825147 KEEP 0 0 0 26 911 CC 0.999957 0.999913 0 - 6 60 216 0 0 14.636025 93 60 3497 128 ENST00000354396.2 0.060606 0.999956 SETDB1 9869 __UNKNOWN__ __UNKNOWN__ 1 150917624 150917624 __UNKNOWN__ Intron SNP G G C rs587715611|rs186820437 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:150917624G>C ENST00000271640.5 + 9 1330 SETDB1_ENST00000368969.4_Intron|SETDB1_ENST00000368962.2_Missense_Mutation_p.G394R|SETDB1_ENST00000459773.1_Intron NM_001145415.1|NM_012432.3 NP_001138887.1|NP_036564.3 Q15047 SETB1_HUMAN SET domain, bifurcated 1 NA NA bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886) DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270) NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 12 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211) AGAGGTTGGTGGGGGGGGAAC 0.473 NA NA NA NA NA NA NA NA NA NA NA 0 30 31 31 NA NA 1 NA 150917624 2203 4300 6503 SO:0001627 intron_variant D31891 CCDS972.1, CCDS44217.1, CCDS58026.1 1q21 2013-01-23 ENSG00000143379 ENSG00000143379 9869 Chromatin-modifying enzymes / K-methyltransferases, Tudor domain containing 10761 protein-coding gene gene with protein product tudor domain containing 21 604396 NA 10343109 Standard NM_001145415 NA Approved KG1T, KIAA0067, ESET, KMT1E, TDRD21 uc001evu.2 Q15047 OTTHUMG00000035003 ENST00000271640.5:c.1140+40G>C chr1.hg19:g.150917624G>C NA A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9 hg19 CCDS44217.1 0.02 7.928444 GGTxGGG COVERED . . . . . . . . . . G 6.534 0.466846 0.12402 . . ENSG00000143379 ENST00000368962 T 0.47528 0.84 4.2 -8.4 0.00965 . . . . . T 0.06416 0.0165 . . . 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.05257 -1.0896 7 . . . . 2.5724 0.04798 0.1648:0.2767:0.4117:0.1468 . 394 Q15047-2 . R 394 ENSP00000357958:G394R . G + 1 0 SETDB1 149184248 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 0.138000 0.16016 -3.529000 0.00146 -3.577000 0.00029 GGG NOVEL SETDB1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000084717.2 2 8.728368 KEEP 0 0 0 29 1018 GG 0.999997 0.999997 0 + 9 60 296 1 0 17.435494 221 60 7979 297 ENST00000271640.5 0.03913 1 SETDB1 9869 __UNKNOWN__ __UNKNOWN__ 1 150923774 150923774 __UNKNOWN__ Intron SNP T T A rs2124952 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:150923774T>A ENST00000271640.5 + 14 2403 SETDB1_ENST00000368969.4_Intron|SETDB1_ENST00000459773.1_Intron NM_001145415.1|NM_012432.3 NP_001138887.1|NP_036564.3 Q15047 SETB1_HUMAN SET domain, bifurcated 1 NA NA bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886) DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270) NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 12 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211) CTTGGGTACATGTGTATTGTG 0.493 NA T||| 2031 0.405551 0.2731 0.5144 5008 , , NA 20563 0.4345 NA 0.3688 False NA ,,, NA NA NA 2504 0.5153 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D31891 CCDS972.1, CCDS44217.1, CCDS58026.1 1q21 2013-01-23 ENSG00000143379 ENSG00000143379 9869 Chromatin-modifying enzymes / K-methyltransferases, Tudor domain containing 10761 protein-coding gene gene with protein product tudor domain containing 21 604396 NA 10343109 Standard NM_001145415 NA Approved KG1T, KIAA0067, ESET, KMT1E, TDRD21 uc001evu.2 Q15047 OTTHUMG00000035003 ENST00000271640.5:c.2214-67T>A chr1.hg19:g.150923774T>A NA A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9 hg19 CCDS44217.1 0.02 4.372624 ACAxGTG COVERED NOVEL SETDB1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000084717.2 1 5.404382 KEEP 0 0 0 18 547 TT 0.999859 0.99984 0 + 6 60 204 0 0 13.344253 97 60 3501 148 ENST00000271640.5 0.058252 0.999981 CERS2 29956 __UNKNOWN__ __UNKNOWN__ 1 150938571 150938571 __UNKNOWN__ 5'UTR SNP G G A rs8444 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:150938571G>A ENST00000345896.4 - 0 1247 CERS2_ENST00000561294.1_Intron|RP11-316M1.12_ENST00000561111.1_RNA|CERS2_ENST00000271688.6_3'UTR|CERS2_ENST00000368954.5_3'UTR Q96G23 CERS2_HUMAN ceramide synthase 2 NA NA ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear membrane (GO:0031965) DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291) NA CGCAGGGAGCGGGGTAGTTCC 0.507 NA G||| 2024 0.404153 0.2693 0.5144 5008 , , NA 20160 0.4345 NA 0.3668 False NA ,,, NA NA NA 2504 0.5153 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF189062 CCDS973.1 1q21.3 2012-09-20 2011-07-08 2011-07-08 ENSG00000143418 ENSG00000143418 29956 Homeoboxes / CERS class 14076 protein-coding gene gene with protein product 606920 longevity assurance (LAG1, S. cerevisiae) homolog 2, LAG1 longevity assurance homolog 2 (S. cerevisiae), LAG1 homolog, ceramide synthase 2 LASS2 NA 11543633 Standard NM_022075 NM_181746 NA Approved SP260, FLJ10243 uc001evz.3 Q96G23 OTTHUMG00000035064 ENST00000345896.4:c.-923C>T chr1.hg19:g.150938571G>A NA D3DV06|Q5SZE5|Q9HD96|Q9NW79 hg19 0.02 4.631293 AGCxGGG COVERED NOVEL CERS2-002 KNOWN basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000084898.2 0 4.513374 KEEP 0 0 0 15 473 GG 0.99649 0.996489 0 - 7 60 259 0 0 17.68176 112 60 3772 139 ENST00000345896.4 0.058824 0.999998 CERS2 29956 __UNKNOWN__ __UNKNOWN__ 1 150939744 150939744 __UNKNOWN__ Intron SNP C C A rs11204750 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:150939744C>A ENST00000345896.4 - 7 664 CERS2_ENST00000561294.1_Intron|CERS2_ENST00000271688.6_Intron|CERS2_ENST00000368954.5_Intron Q96G23 CERS2_HUMAN ceramide synthase 2 NA NA ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear membrane (GO:0031965) DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291) NA CCTTCTTACCCCTTGCCTTTG 0.512 NA C||| 1959 0.391174 0.2194 0.513 5008 , , NA 18473 0.4345 NA 0.3688 False NA ,,, NA NA NA 2504 0.5153 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF189062 CCDS973.1 1q21.3 2012-09-20 2011-07-08 2011-07-08 ENSG00000143418 ENSG00000143418 29956 Homeoboxes / CERS class 14076 protein-coding gene gene with protein product 606920 longevity assurance (LAG1, S. cerevisiae) homolog 2, LAG1 longevity assurance homolog 2 (S. cerevisiae), LAG1 homolog, ceramide synthase 2 LASS2 NA 11543633 Standard NM_022075 NM_181746 NA Approved SP260, FLJ10243 uc001evz.3 Q96G23 OTTHUMG00000035064 ENST00000345896.4:c.1507-66G>T chr1.hg19:g.150939744C>A NA D3DV06|Q5SZE5|Q9HD96|Q9NW79 hg19 0.02 8.835535 ACCxCTT COVERED NOVEL CERS2-002 KNOWN basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000084898.2 1 10.835247 KEEP 0 0 0 36 1276 CC 0.999999 0.999999 0 - 15 60 521 0 0 35.959331 191 60 6894 277 ENST00000345896.4 0.072816 1 CERS2 29956 __UNKNOWN__ __UNKNOWN__ 1 150940357 150940357 __UNKNOWN__ Intron SNP G G T rs6656535|rs371338966|rs386635386 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:150940357G>T ENST00000345896.4 - 4 462 CERS2_ENST00000561294.1_Intron|CERS2_ENST00000271688.6_Intron|CERS2_ENST00000368954.5_Intron Q96G23 CERS2_HUMAN ceramide synthase 2 NA NA ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear membrane (GO:0031965) DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291) NA TCTCCAGCTGGCAGAGGAAGC 0.502 NA G||| 1959 0.391174 0.2194 0.513 5008 , , NA 19493 0.4345 NA 0.3688 False NA ,,, NA NA NA 2504 0.5153 NA NA NA NA 0 G , 1083,3323 394.4+/-329.3 131,821,1251 112 104 107 , -2.4 0 1 dbSNP_116 107 3032,5568 467.1+/-367.0 538,1956,1806 no intron,intron CERS2 NM_022075.4,NM_181746.3 , 669,2777,3057 TT,TG,GG 35.2558,24.5801,31.6392 , , 150940357 4115,8891 2203 4300 6503 SO:0001627 intron_variant AF189062 CCDS973.1 1q21.3 2012-09-20 2011-07-08 2011-07-08 ENSG00000143418 ENSG00000143418 29956 Homeoboxes / CERS class 14076 protein-coding gene gene with protein product 606920 longevity assurance (LAG1, S. cerevisiae) homolog 2, LAG1 longevity assurance homolog 2 (S. cerevisiae), LAG1 homolog, ceramide synthase 2 LASS2 NA 11543633 Standard NM_022075 NM_181746 NA Approved SP260, FLJ10243 uc001evz.3 Q96G23 OTTHUMG00000035064 ENST00000345896.4:c.1709-4C>A chr1.hg19:g.150940357G>T NA D3DV06|Q5SZE5|Q9HD96|Q9NW79 hg19 0.02 14.99659 CTGxCAG COVERED NOVEL CERS2-002 KNOWN basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000084898.2 4 24.078238 KEEP 0 0 0 80 2834 GG 1 1 0 - 23 60 838 0 0 56.831021 367 60 13580 545 ENST00000345896.4 0.058974 1 CERS2 29956 __UNKNOWN__ __UNKNOWN__ 1 150940358 150940358 __UNKNOWN__ Intron SNP C C T rs371338966|rs386635386|rs6681742 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:150940358C>T ENST00000345896.4 - 4 462 CERS2_ENST00000561294.1_Intron|CERS2_ENST00000271688.6_Intron|CERS2_ENST00000368954.5_Intron Q96G23 CERS2_HUMAN ceramide synthase 2 NA NA ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear membrane (GO:0031965) DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291) NA CTCCAGCTGGCAGAGGAAGCA 0.502 NA C||| 1959 0.391174 0.2194 0.513 5008 , , NA 19750 0.4345 NA 0.3688 False NA ,,, NA NA NA 2504 0.5153 NA NA NA NA 0 C , 1083,3323 394.4+/-329.3 131,821,1251 109 101 104 , 2.6 0 1 dbSNP_129 104 3032,5568 467.5+/-367.1 538,1956,1806 no intron,intron CERS2 NM_022075.4,NM_181746.3 , 669,2777,3057 TT,TC,CC 35.2558,24.5801,31.6392 , , 150940358 4115,8891 2203 4300 6503 SO:0001627 intron_variant AF189062 CCDS973.1 1q21.3 2012-09-20 2011-07-08 2011-07-08 ENSG00000143418 ENSG00000143418 29956 Homeoboxes / CERS class 14076 protein-coding gene gene with protein product 606920 longevity assurance (LAG1, S. cerevisiae) homolog 2, LAG1 longevity assurance homolog 2 (S. cerevisiae), LAG1 homolog, ceramide synthase 2 LASS2 NA 11543633 Standard NM_022075 NM_181746 NA Approved SP260, FLJ10243 uc001evz.3 Q96G23 OTTHUMG00000035064 ENST00000345896.4:c.1709-5G>A chr1.hg19:g.150940358C>T NA D3DV06|Q5SZE5|Q9HD96|Q9NW79 hg19 0.02 14.41269 TGGxAGA COVERED NOVEL CERS2-002 KNOWN basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000084898.2 4 24.061335 KEEP 0 0 0 80 2820 CC 1 1 0 - 23 60 837 0 0 56.774492 365 60 13937 540 ENST00000345896.4 0.059278 1 ANXA9 8416 __UNKNOWN__ __UNKNOWN__ 1 150958977 150958977 __UNKNOWN__ Intron SNP T T C rs2305814 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:150958977T>C ENST00000368947.4 + 8 1028 NM_003568.2 NP_003559.2 O76027 ANXA9_HUMAN annexin A9 NA NA single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268) cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) acetylcholine receptor activity (GO:0015464)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylserine binding (GO:0001786)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803) endometrium(1)|large_intestine(1)|lung(4)|skin(2) 8 all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) TGTCCTGTAATGGACAAGAGA 0.542 NA T||| 2759 0.550919 0.5182 0.6095 5008 , , NA 20187 0.5883 NA 0.4453 False NA ,,, NA NA NA 2504 0.6237 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ009985 CCDS975.2 1q21.2 2008-02-05 ENSG00000143412 ENSG00000143412 8416 Annexins 547 protein-coding gene gene with protein product 603319 ANX31 NA 9742942, 9931420 Standard NM_003568 NM_003568 NA Approved uc001ewa.2 O76027 OTTHUMG00000035063 ENST00000368947.4:c.552+86T>C chr1.hg19:g.150958977T>C NA Q5SZF1|Q6FI55|Q9BS00|Q9HBJ6 hg19 CCDS975.2 0.02 3.93582 TAAxGGA COVERED NOVEL ANXA9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000084895.2 1 7.823229 KEEP 0 0 0 26 804 TT 0.999957 0.999957 0 + 8 60 267 0 0 17.474029 122 60 4479 163 ENST00000368947.4 0.061538 1 ANXA9 8416 __UNKNOWN__ __UNKNOWN__ 1 150960350 150960350 __UNKNOWN__ Silent SNP A A C rs17850000|rs7532008 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:150960350A>C ENST00000368947.4 + 10 1091 c.615A>C c.(613-615)gcA>gcC p.A205A NM_003568.2 NP_003559.2 O76027 ANXA9_HUMAN annexin A9 205 NA single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268) cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) acetylcholine receptor activity (GO:0015464)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylserine binding (GO:0001786)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803) endometrium(1)|large_intestine(1)|lung(4)|skin(2) 8 all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) CCTCCTAGGCACTGCAGCGGG 0.532 NA A||| 2463 0.491813 0.5106 0.4092 5008 , , NA 18737 0.5813 NA 0.3429 False NA ,,, NA NA NA 2504 0.5859 NA NA NA NA 0 A 1982,2424 556.3+/-379.5 457,1068,678 72 64 67 615 -4.5 0 1 dbSNP_116 67 2611,5989 422.3+/-354.0 424,1763,2113 no coding-synonymous ANXA9 NM_003568.2 881,2831,2791 CC,CA,AA 30.3605,44.9841,35.3145 205/346 150960350 4593,8413 2203 4300 6503 SO:0001819 synonymous_variant AJ009985 CCDS975.2 1q21.2 2008-02-05 ENSG00000143412 ENSG00000143412 8416 Annexins 547 protein-coding gene gene with protein product 603319 ANX31 NA 9742942, 9931420 Standard NM_003568 NM_003568 NA Approved uc001ewa.2 O76027 OTTHUMG00000035063 ENST00000368947.4:c.615A>C chr1.hg19:g.150960350A>C NA Q5SZF1|Q6FI55|Q9BS00|Q9HBJ6 hg19 CCDS975.2 0.02 4.440788 GGCxCTG COVERED NOVEL ANXA9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000084895.2 2 9.628999 KEEP 0 0 0 32 998 AA 0.999998 0.999996 0 + 11 60 373 0 0 26.800805 107 60 3870 171 ENST00000368947.4 0.09322 0.999998 FAM63A 55793 __UNKNOWN__ __UNKNOWN__ 1 150975403 150975403 __UNKNOWN__ 5'UTR SNP G G C rs587667965 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:150975403G>C ENST00000361936.5 - 0 645 FAM63A_ENST00000470877.1_Intron|FAM63A_ENST00000361738.6_Intron|FAM63A_ENST00000493834.2_Intron|FAM63A_ENST00000312210.5_Intron NM_018379.4 NP_060849 Q8N5J2 FA63A_HUMAN family with sequence similarity 63, member A NA NA extracellular vesicular exosome (GO:0070062) breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) GACTTGGGAGGGAAGACTGGT 0.522 NA G||| 4 0.000798722 0.0 0.0 5008 , , NA 18425 0.004 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant BC032321 CCDS976.1, CCDS30854.1, CCDS53361.1, CCDS55635.1 1q21.2 2008-02-05 ENSG00000143409 ENSG00000143409 55793 25648 protein-coding gene gene with protein product NA 10718198 Standard NM_018379 NM_001040217 NA Approved FLJ11280 uc010pcn.2 Q8N5J2 OTTHUMG00000035061 ENST00000361936.5:c.-310C>G chr1.hg19:g.150975403G>C NA B3KWP4|B3KWV8|B4DXF2|B4E1S4|D3DV09|J3KP53|Q5SZF0|Q9NUL9|Q9P2F7 hg19 CCDS976.1 0.02 3.266515 GAGxGAA COVERED NOVEL FAM63A-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000411753.1 1 13.542467 KEEP 0 0 0 45 1527 GG 1 1 0 - 5 60 167 0 0 9.943515 122 60 4382 201 ENST00000361936.5 0.03937 1 BNIPL 149428 __UNKNOWN__ __UNKNOWN__ 1 151019968 151019968 __UNKNOWN__ 3'UTR SNP T T G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:151019968T>G ENST00000368931.3 + 0 2035 BNIPL_ENST00000295294.7_3'UTR NM_138278.3 NP_612122.2 Q7Z465 BNIPL_HUMAN BCL2/adenovirus E1B 19kD interacting protein like NA NA apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|regulation of growth rate (GO:0040009) cytosol (GO:0005829)|nucleus (GO:0005634) identical protein binding (GO:0042802) autonomic_ganglia(1)|endometrium(3)|large_intestine(1)|lung(4)|skin(1) 10 Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) CTGCTGCCTGTGAGCCTGGGA 0.458 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF193056 CCDS978.2, CCDS53362.1 1q21.2 2008-02-05 ENSG00000163141 ENSG00000163141 149428 16976 protein-coding gene gene with protein product 611275 NA 12681488, 11741952 Standard NM_138279 NM_138278 NA Approved BNIPl-1, BNIPL-2, PP753 uc001ewl.2 Q7Z465 OTTHUMG00000035157 ENST00000368931.3:c.*805T>G chr1.hg19:g.151019968T>G NA Q6DK43|Q8TCY7|Q8WYG2 hg19 CCDS978.2 0.02 8.346187 CTGxGAG COVERED NOVEL BNIPL-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000085092.1 2 17.451669 KEEP 0 0 0 58 1800 TT 1 1 0 + 8 60 290 0 0 18.13188 198 60 7178 312 ENST00000368931.3 0.038835 1 PSMB4 5692 __UNKNOWN__ __UNKNOWN__ 1 151372138 151372138 __UNKNOWN__ Silent SNP G G A rs7172 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:151372138G>A ENST00000290541.6 + 1 129 c.75G>A c.(73-75)ccG>ccA p.P25P NM_002796.2 NP_002787.2 P28070 PSB4_HUMAN proteasome (prosome, macropain) subunit, beta type, 4 25 NA anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839) lipopolysaccharide binding (GO:0001530)|threonine-type endopeptidase activity (GO:0004298) endometrium(1)|lung(9)|ovary(2)|prostate(1)|skin(1) 14 Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) ACCGCATTCCGTCCACTCCCG 0.572 NA G||| 2469 0.493011 0.3321 0.4669 5008 , , NA 16386 0.2123 NA 0.835 False NA ,,, NA NA NA 2504 0.6667 NA NA NA NA 0 G 1709,2697 503.9+/-365.7 347,1015,841 68 69 69 75 -1.3 0 1 dbSNP_52 69 7058,1542 731.1+/-406.8 2905,1248,147 no coding-synonymous PSMB4 NM_002796.2 3252,2263,988 AA,AG,GG 17.9302,38.788,32.5926 25/265 151372138 8767,4239 2203 4300 6503 SO:0001819 synonymous_variant D26600 CCDS996.1 1q21 2008-02-05 ENSG00000159377 ENSG00000159377 5692 Proteasome (prosome, macropain) subunits 9541 protein-coding gene gene with protein product 602177 NA 7918633 Standard NM_002796 NM_002796 NA Approved HN3, PROS26 uc001eyc.1 P28070 OTTHUMG00000012494 ENST00000290541.6:c.75G>A chr1.hg19:g.151372138G>A NA B2R9L3|P31148|Q5SZS5|Q6IBI4|Q969L6 hg19 CCDS996.1 0.02 9.167704 TCCxTCC COVERED NOVEL PSMB4-001 KNOWN mRNA_start_NF|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000034885.1 1 33.841764 KEEP 0 1 30 123 4223 GG 1 1 0 + 16 60 590 0 0 40.88484 232 60 8290 463 ENST00000290541.6 0.064516 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 151374545 151374545 __UNKNOWN__ IGR SNP C C T rs1887544 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:151374545C>T NA NA PSMB4 (125 upstream) : POGZ (654 downstream) NA NA NA CTCTGCACAACACAGAAAGAC 0.468 NA T||| 3926 0.783946 0.8434 0.6945 5008 , , NA 17507 0.6835 NA 0.8539 False NA ,,, NA NA NA 2504 0.7986 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.151374545C>T NA hg19 0.02 3.918154 CAAxACA COVERED NOVEL 0 0 4.213346 KEEP 0 0 0 14 482 CC 0.995343 0.995343 0 8 60 288 0 0 19.514334 124 60 4705 149 0.060606 1 POGZ 23126 __UNKNOWN__ __UNKNOWN__ 1 151396037 151396037 __UNKNOWN__ Intron SNP A A C rs2274534 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:151396037A>C ENST00000409503.1 - 10 1525 POGZ_ENST00000368863.2_Intron|POGZ_ENST00000491586.1_Intron|POGZ_ENST00000531094.1_Intron|POGZ_ENST00000540984.1_Intron|POGZ_ENST00000361398.3_Intron|POGZ_ENST00000271715.2_Intron|POGZ_ENST00000392723.1_Intron Q7Z3K3 POGZ_HUMAN pogo transposable element with ZNF domain NA NA kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064) cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 47 Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) TCTGTAATAAAGCACAAAGAG 0.403 NA A||| 2458 0.490815 0.3268 0.464 5008 , , NA 20351 0.2113 NA 0.835 False NA ,,, NA NA NA 2504 0.6656 NA NA NA NA 0 A ,,,, 1695,2711 512.1+/-368.0 341,1013,849 93 85 88 ,,,, 2.8 0.9 1 dbSNP_100 88 7060,1540 746.6+/-407.3 2907,1246,147 no intron,intron,intron,intron,intron POGZ NM_001194937.1,NM_001194938.1,NM_015100.3,NM_145796.3,NM_207171.2 ,,,, 3248,2259,996 CC,CA,AA 17.907,38.4703,32.6849 ,,,, ,,,, 151396037 8755,4251 2203 4300 6503 SO:0001627 intron_variant AB007930 CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1 1q21.1 2013-07-22 ENSG00000143442 ENSG00000143442 23126 18801 protein-coding gene gene with protein product zinc finger protein 280E, putative protein product of Nbla00003 614787 NA 10976766 Standard NM_207171 NM_015100 NA Approved KIAA0461, ZNF635m, ZNF280E uc001eyd.2 Q7Z3K3 OTTHUMG00000012499 ENST00000409503.1:c.1497-10T>G chr1.hg19:g.151396037A>C NA B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7 hg19 CCDS53366.1 0.02 7.84579 TAAxGCA COVERED NOVEL POGZ-016 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000330643.1 0 18.054605 KEEP 0 0 0 60 1905 AA 1 1 0 - 13 60 436 0 0 28.138366 216 60 7982 345 ENST00000409503.1 0.056769 1 POGZ 23126 __UNKNOWN__ __UNKNOWN__ 1 151400942 151400942 __UNKNOWN__ Intron SNP A A C rs11204811 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:151400942A>C ENST00000409503.1 - 6 597 POGZ_ENST00000368863.2_Intron|POGZ_ENST00000491586.1_Intron|POGZ_ENST00000531094.1_Intron|POGZ_ENST00000540984.1_Intron|POGZ_ENST00000361398.3_Intron|POGZ_ENST00000271715.2_Intron|POGZ_ENST00000392723.1_Intron Q7Z3K3 POGZ_HUMAN pogo transposable element with ZNF domain NA NA kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064) cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 47 Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) CACCTATAACACATTCTCCCT 0.428 NA A||| 2520 0.503195 0.3729 0.4683 5008 , , NA 19959 0.2113 NA 0.835 False NA ,,, NA NA NA 2504 0.6636 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB007930 CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1 1q21.1 2013-07-22 ENSG00000143442 ENSG00000143442 23126 18801 protein-coding gene gene with protein product zinc finger protein 280E, putative protein product of Nbla00003 614787 NA 10976766 Standard NM_207171 NM_015100 NA Approved KIAA0461, ZNF635m, ZNF280E uc001eyd.2 Q7Z3K3 OTTHUMG00000012499 ENST00000409503.1:c.569-53T>G chr1.hg19:g.151400942A>C NA B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7 hg19 CCDS53366.1 0.02 4.478897 AACxCAT COVERED NOVEL POGZ-016 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000330643.1 1 8.422035 KEEP 0 0 0 28 820 AA 0.999997 0.999997 0 - 5 60 186 0 0 11.872445 120 60 4073 171 ENST00000409503.1 0.04 1 SNX27 81609 __UNKNOWN__ __UNKNOWN__ 1 151667718 151667718 __UNKNOWN__ 3'UTR SNP A A G rs1308135 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:151667718A>G ENST00000368843.3 + 0 3348 SNX27_ENST00000458013.2_3'UTR NM_030918.5 NP_112180.4 Q96L92 SNX27_HUMAN sorting nexin family member 27 NA NA endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|establishment of natural killer cell polarity (GO:0001770)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to plasma membrane (GO:1990126)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|early endosome (GO:0005769)|immunological synapse (GO:0001772)|nucleus (GO:0005634) phosphatidylinositol-3-phosphate binding (GO:0032266) central_nervous_system(1)|large_intestine(2)|ovary(2) 5 Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) AATTTTTTTGATCCATCTATT 0.493 NA A||| 1021 0.203874 0.2413 0.121 5008 , , NA 15221 0.3185 NA 0.004 False NA ,,, NA NA NA 2504 0.2996 NA NA NA Colon(46;291 966 40145 41237 41888) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB007957 CCDS1001.1 1q21.3 2008-03-11 ENSG00000143376 ENSG00000143376 81609 Sorting nexins 20073 protein-coding gene gene with protein product 611541 NA 12461558 Standard NM_030918 XM_005245509 NA Approved MY014, KIAA0488, MGC20471 uc001eyn.1 Q96L92 OTTHUMG00000013052 ENST00000368843.3:c.*1641A>G chr1.hg19:g.151667718A>G NA Q32Q36|Q4AEJ5|Q5VWB0|Q5VWB1|Q5VWB2|Q6IPP6|Q86UB1|Q96D79|Q9H3K8 hg19 CCDS1001.1 0.02 9.569348 TTGxTCC COVERED NOVEL SNX27-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000104568.1 2 12.929811 KEEP 0 0 0 43 1312 AA 1 1 0 + 19 60 681 0 0 48.868659 207 60 7289 322 ENST00000368843.3 0.084071 1 SNX27 81609 __UNKNOWN__ __UNKNOWN__ 1 151668081 151668081 __UNKNOWN__ 3'UTR SNP T T G rs1308136 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:151668081T>G ENST00000368843.3 + 0 3711 SNX27_ENST00000458013.2_3'UTR NM_030918.5 NP_112180.4 Q96L92 SNX27_HUMAN sorting nexin family member 27 NA NA endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|establishment of natural killer cell polarity (GO:0001770)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to plasma membrane (GO:1990126)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|early endosome (GO:0005769)|immunological synapse (GO:0001772)|nucleus (GO:0005634) phosphatidylinositol-3-phosphate binding (GO:0032266) central_nervous_system(1)|large_intestine(2)|ovary(2) 5 Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) aaaatttttttgtagagacag 0.517 NA T||| 770 0.153754 0.0635 0.1052 5008 , , NA 17129 0.3175 NA 0.003 False NA ,,, NA NA NA 2504 0.2965 NA NA NA Colon(46;291 966 40145 41237 41888) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB007957 CCDS1001.1 1q21.3 2008-03-11 ENSG00000143376 ENSG00000143376 81609 Sorting nexins 20073 protein-coding gene gene with protein product 611541 NA 12461558 Standard NM_030918 XM_005245509 NA Approved MY014, KIAA0488, MGC20471 uc001eyn.1 Q96L92 OTTHUMG00000013052 ENST00000368843.3:c.*2004T>G chr1.hg19:g.151668081T>G NA Q32Q36|Q4AEJ5|Q5VWB0|Q5VWB1|Q5VWB2|Q6IPP6|Q86UB1|Q96D79|Q9H3K8 hg19 CCDS1001.1 0.02 -0.36845 TTTxGTA COVERED NOVEL SNX27-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000104568.1 3 2.708296 KEEP 0 0 0 9 284 TT 0.992708 0.892756 0 + 3 60 111 0 0 7.838891 39 60 1389 55 ENST00000368843.3 0.071429 0.899314 SNX27 81609 __UNKNOWN__ __UNKNOWN__ 1 151668295 151668295 __UNKNOWN__ 3'UTR SNP A A C rs1308137 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:151668295A>C ENST00000368843.3 + 0 3925 SNX27_ENST00000458013.2_3'UTR NM_030918.5 NP_112180.4 Q96L92 SNX27_HUMAN sorting nexin family member 27 NA NA endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|establishment of natural killer cell polarity (GO:0001770)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to plasma membrane (GO:1990126)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|early endosome (GO:0005769)|immunological synapse (GO:0001772)|nucleus (GO:0005634) phosphatidylinositol-3-phosphate binding (GO:0032266) central_nervous_system(1)|large_intestine(2)|ovary(2) 5 Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) AGAAAGCAAGAAATGCCCTAT 0.458 NA C||| 2633 0.525759 0.5953 0.5159 5008 , , NA 23262 0.6062 NA 0.339 False NA ,,, NA NA NA 2504 0.5481 NA NA NA Colon(46;291 966 40145 41237 41888) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB007957 CCDS1001.1 1q21.3 2008-03-11 ENSG00000143376 ENSG00000143376 81609 Sorting nexins 20073 protein-coding gene gene with protein product 611541 NA 12461558 Standard NM_030918 XM_005245509 NA Approved MY014, KIAA0488, MGC20471 uc001eyn.1 Q96L92 OTTHUMG00000013052 ENST00000368843.3:c.*2218A>C chr1.hg19:g.151668295A>C NA Q32Q36|Q4AEJ5|Q5VWB0|Q5VWB1|Q5VWB2|Q6IPP6|Q86UB1|Q96D79|Q9H3K8 hg19 CCDS1001.1 0.02 12.91973 AAGxAAT COVERED NOVEL SNX27-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000104568.1 0 11.734607 KEEP 0 0 0 39 1223 AA 1 1 0 + 32 60 1206 0 0 92.356504 254 60 9085 390 ENST00000368843.3 0.111888 1 SNX27 81609 __UNKNOWN__ __UNKNOWN__ 1 151669006 151669006 __UNKNOWN__ 3'UTR SNP T T G rs1308138 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:151669006T>G ENST00000368843.3 + 0 4636 SNX27_ENST00000458013.2_3'UTR NM_030918.5 NP_112180.4 Q96L92 SNX27_HUMAN sorting nexin family member 27 NA NA endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|establishment of natural killer cell polarity (GO:0001770)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to plasma membrane (GO:1990126)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|early endosome (GO:0005769)|immunological synapse (GO:0001772)|nucleus (GO:0005634) phosphatidylinositol-3-phosphate binding (GO:0032266) central_nervous_system(1)|large_intestine(2)|ovary(2) 5 Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) tcgttctttctttctttcttt 0.318 NA NA NA NA NA NA NA NA NA NA Colon(46;291 966 40145 41237 41888) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB007957 CCDS1001.1 1q21.3 2008-03-11 ENSG00000143376 ENSG00000143376 81609 Sorting nexins 20073 protein-coding gene gene with protein product 611541 NA 12461558 Standard NM_030918 XM_005245509 NA Approved MY014, KIAA0488, MGC20471 uc001eyn.1 Q96L92 OTTHUMG00000013052 ENST00000368843.3:c.*2929T>G chr1.hg19:g.151669006T>G NA Q32Q36|Q4AEJ5|Q5VWB0|Q5VWB1|Q5VWB2|Q6IPP6|Q86UB1|Q96D79|Q9H3K8 hg19 CCDS1001.1 0.02 12.371567 TTCxTTC COVERED NOVEL SNX27-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000104568.1 13 23.167537 KEEP 0 0 0 77 2345 TT 1 1 0 + 29 60 924 0 0 62.079949 342 60 12605 470 ENST00000368843.3 0.078167 1 SNX27 81609 __UNKNOWN__ __UNKNOWN__ 1 151669997 151669997 __UNKNOWN__ 3'UTR SNP C C A rs1048694 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:151669997C>A ENST00000368843.3 + 0 5627 SNX27_ENST00000458013.2_3'UTR NM_030918.5 NP_112180.4 Q96L92 SNX27_HUMAN sorting nexin family member 27 NA NA endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|establishment of natural killer cell polarity (GO:0001770)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to plasma membrane (GO:1990126)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|early endosome (GO:0005769)|immunological synapse (GO:0001772)|nucleus (GO:0005634) phosphatidylinositol-3-phosphate binding (GO:0032266) central_nervous_system(1)|large_intestine(2)|ovary(2) 5 Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) CCAGTAACAACGCACCCAGCT 0.547 NA A||| 2765 0.552117 0.6793 0.513 5008 , , NA 19368 0.6319 NA 0.335 False NA ,,, NA NA NA 2504 0.5491 NA NA NA Colon(46;291 966 40145 41237 41888) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB007957 CCDS1001.1 1q21.3 2008-03-11 ENSG00000143376 ENSG00000143376 81609 Sorting nexins 20073 protein-coding gene gene with protein product 611541 NA 12461558 Standard NM_030918 XM_005245509 NA Approved MY014, KIAA0488, MGC20471 uc001eyn.1 Q96L92 OTTHUMG00000013052 ENST00000368843.3:c.*3920C>A chr1.hg19:g.151669997C>A NA Q32Q36|Q4AEJ5|Q5VWB0|Q5VWB1|Q5VWB2|Q6IPP6|Q86UB1|Q96D79|Q9H3K8 hg19 CCDS1001.1 0.02 9.264393 CAAxGCA COVERED NOVEL SNX27-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000104568.1 0 11.43028 KEEP 0 0 0 38 1284 CC 1 1 0 + 18 60 640 0 0 45.741289 197 60 6865 298 ENST00000368843.3 0.083721 1 SNX27 81609 __UNKNOWN__ __UNKNOWN__ 1 151671227 151671227 __UNKNOWN__ 3'UTR SNP G G A rs1308142 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:151671227G>A ENST00000368843.3 + 0 6857 SNX27_ENST00000458013.2_3'UTR NM_030918.5 NP_112180.4 Q96L92 SNX27_HUMAN sorting nexin family member 27 NA NA endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|establishment of natural killer cell polarity (GO:0001770)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to plasma membrane (GO:1990126)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|early endosome (GO:0005769)|immunological synapse (GO:0001772)|nucleus (GO:0005634) phosphatidylinositol-3-phosphate binding (GO:0032266) central_nervous_system(1)|large_intestine(2)|ovary(2) 5 Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) GTGATACGGGGTGGGGGCACT 0.507 NA .||| 854 0.170527 0.1248 0.1095 5008 , , NA 17523 0.3175 NA 0.003 False NA ,,, NA NA NA 2504 0.2965 NA NA NA Colon(46;291 966 40145 41237 41888) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB007957 CCDS1001.1 1q21.3 2008-03-11 ENSG00000143376 ENSG00000143376 81609 Sorting nexins 20073 protein-coding gene gene with protein product 611541 NA 12461558 Standard NM_030918 XM_005245509 NA Approved MY014, KIAA0488, MGC20471 uc001eyn.1 Q96L92 OTTHUMG00000013052 ENST00000368843.3:c.*5150G>A chr1.hg19:g.151671227G>A NA Q32Q36|Q4AEJ5|Q5VWB0|Q5VWB1|Q5VWB2|Q6IPP6|Q86UB1|Q96D79|Q9H3K8 hg19 CCDS1001.1 0.02 6.111528 GGGxTGG COVERED NOVEL SNX27-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000104568.1 0 9.931629 KEEP 0 0 0 33 1134 GG 0.999998 0.999998 0 + 14 60 496 0 0 35.063954 162 60 5904 231 ENST00000368843.3 0.079545 1 CELF3 11189 __UNKNOWN__ __UNKNOWN__ 1 151679596 151679596 __UNKNOWN__ Intron SNP G G A rs1308153 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:151679596G>A ENST00000290583.4 - 8 1716 CELF3_ENST00000470688.1_Intron|CELF3_ENST00000290585.4_Intron|RP11-98D18.1_ENST00000457548.1_RNA|CELF3_ENST00000392706.3_Intron NM_001172648.1|NM_007185.4 NP_001166119.1|NP_009116.3 Q5SZQ8 CELF3_HUMAN CUGBP, Elav-like family member 3 NA NA mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283) cytoplasm (GO:0005737)|nucleus (GO:0005634) mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723) central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1) 21 TTGCTGGGACGGAGTGGGCAG 0.642 NA .||| 970 0.19369 0.1407 0.1412 5008 , , NA 19531 0.3462 NA 0.0149 False NA ,,, NA NA NA 2504 0.3292 NA NA NA NA 0 G ,, 541,3819 31,479,1670 22 22 22 ,, -3.3 0 1 dbSNP_87 22 216,8350 6,204,4073 no intron,intron,intron CELF3 NM_001172648.1,NM_001172649.1,NM_007185.4 ,, 37,683,5743 AA,AG,GG 2.5216,12.4083,5.8564 ,, ,, 151679596 757,12169 2180 4283 6463 SO:0001627 intron_variant U80759 CCDS1002.1, CCDS53367.1 1q21 2013-02-12 2010-02-19 2010-02-19 ENSG00000159409 ENSG00000159409 11189 Trinucleotide (CAG) repeat containing, RNA binding motif (RRM) containing 11967 protein-coding gene gene with protein product expanded repeat domain, CAG/CTG 4, CAG repeat domain, CUG-BP and ETR-3 like factor 3 612678 trinucleotide repeat containing 4 TNRC4 NA 9225980 Standard NM_007185 XM_005244859 NA Approved CAGH4, BRUNOL1, ERDA4, MGC57297 uc001eys.2 Q5SZQ8 OTTHUMG00000013064 ENST00000290583.4:c.922+24C>T chr1.hg19:g.151679596G>A NA B7ZKK6|O15414|Q499Y6|Q5SZQ7|Q6NVK0|Q8IZ98|Q9BZC2|Q9HB30 hg19 CCDS1002.1 0.02 6.534979 GACxGAG COVERED NOVEL CELF3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000036663.2 0 6.921816 KEEP 0 0 0 23 772 GG 0.999892 0.999892 0 - 10 60 371 0 0 24.702234 187 60 6428 270 ENST00000290583.4 0.050761 1 CELF3 11189 __UNKNOWN__ __UNKNOWN__ 1 151688828 151688828 __UNKNOWN__ 5'UTR SNP G G A rs1308154 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:151688828G>A ENST00000290583.4 - 0 462 AL589765.1_ENST00000442233.2_Intron|RIIAD1_ENST00000326413.3_Intron NM_001172648.1|NM_007185.4 NP_001166119.1|NP_009116.3 Q5SZQ8 CELF3_HUMAN CUGBP, Elav-like family member 3 NA NA mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283) cytoplasm (GO:0005737)|nucleus (GO:0005634) mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723) central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1) 21 GGTAGCCGGGGGTGCTAGGGC 0.597 NA G||| 888 0.177316 0.1589 0.0994 5008 , , NA 14192 0.3472 NA 0.0109 False NA ,,, NA NA NA 2504 0.2536 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant U80759 CCDS1002.1, CCDS53367.1 1q21 2013-02-12 2010-02-19 2010-02-19 ENSG00000159409 ENSG00000159409 11189 Trinucleotide (CAG) repeat containing, RNA binding motif (RRM) containing 11967 protein-coding gene gene with protein product expanded repeat domain, CAG/CTG 4, CAG repeat domain, CUG-BP and ETR-3 like factor 3 612678 trinucleotide repeat containing 4 TNRC4 NA 9225980 Standard NM_007185 XM_005244859 NA Approved CAGH4, BRUNOL1, ERDA4, MGC57297 uc001eys.2 Q5SZQ8 OTTHUMG00000013064 ENST00000290583.4:c.-332C>T chr1.hg19:g.151688828G>A NA B7ZKK6|O15414|Q499Y6|Q5SZQ7|Q6NVK0|Q8IZ98|Q9BZC2|Q9HB30 hg19 CCDS1002.1 0.02 3.851425 GGGxGTG COVERED NOVEL CELF3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000036663.2 1 3.009675 KEEP 0 0 0 10 346 GG 0.992708 0.992705 0 - 9 60 264 0 0 17.173967 108 60 3940 142 ENST00000290583.4 0.076923 0.999998 MRPL9 65005 __UNKNOWN__ __UNKNOWN__ 1 151734136 151734136 __UNKNOWN__ Intron SNP G G A rs1196454 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:151734136G>A ENST00000368830.3 - 5 571 MRPL9_ENST00000467306.1_Intron|MRPL9_ENST00000368829.3_Intron NM_031420.2 NP_113608.1 Q9BYD2 RM09_HUMAN mitochondrial ribosomal protein L9 NA NA translation (GO:0006412) mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739) poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735) endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 12 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) actttgggaggccaaggtggg 0.498 NA G||| 847 0.169129 0.1437 0.1037 5008 , , NA 19528 0.3353 NA 0.003 False NA ,,, NA NA NA 2504 0.2495 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK026363 CCDS1003.1, CCDS72916.1 1q21 2012-09-13 ENSG00000143436 ENSG00000143436 65005 Mitochondrial ribosomal proteins / large subunits 14277 protein-coding gene gene with protein product 611824 NA Standard NM_031420 XM_005245455 NA Approved uc001eyv.3 Q9BYD2 OTTHUMG00000013063 ENST00000368830.3:c.487-108C>T chr1.hg19:g.151734136G>A NA B2RD99|Q5SZR2|Q9BSW8 hg19 CCDS1003.1 0.02 1.932753 GAGxCCA COVERED NOVEL MRPL9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000036653.2 0 3.912869 KEEP 0 0 0 13 467 GG 0.994391 0.961999 0 - 4 60 141 0 0 9.887322 48 60 1729 70 ENST00000368830.3 0.076923 0.967425 MRPL9 65005 __UNKNOWN__ __UNKNOWN__ 1 151735545 151735545 __UNKNOWN__ Silent SNP A A G rs1196455 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:151735545A>G ENST00000368830.3 - 2 315 c.231T>C c.(229-231)caT>caC p.H77H MRPL9_ENST00000467306.1_5'UTR|OAZ3_ENST00000321531.5_5'UTR|MRPL9_ENST00000368829.3_Silent_p.H77H|OAZ3_ENST00000315067.8_5'UTR NM_031420.2 NP_113608.1 Q9BYD2 RM09_HUMAN mitochondrial ribosomal protein L9 77 NA translation (GO:0006412) mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739) poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735) endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 12 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) TATAGACGCGATGTCGCCGGT 0.672 NA A||| 873 0.174321 0.1422 0.1037 5008 , , NA 12558 0.3611 NA 0.003 False NA ,,, NA NA NA 2504 0.2515 NA NA NA NA 0 A , 560,3846 249.0+/-256.6 33,494,1676 54 56 56 ,231 2.8 1 1 dbSNP_87 56 32,8568 22.2+/-67.0 0,32,4268 no utr-5,coding-synonymous OAZ3,MRPL9 NM_001134939.1,NM_031420.2 , 33,526,5944 GG,GA,AA 0.3721,12.7099,4.5517 , ,77/268 151735545 592,12414 2203 4300 6503 SO:0001819 synonymous_variant AK026363 CCDS1003.1, CCDS72916.1 1q21 2012-09-13 ENSG00000143436 ENSG00000143436 65005 Mitochondrial ribosomal proteins / large subunits 14277 protein-coding gene gene with protein product 611824 NA Standard NM_031420 XM_005245455 NA Approved uc001eyv.3 Q9BYD2 OTTHUMG00000013063 ENST00000368830.3:c.231T>C chr1.hg19:g.151735545A>G NA B2RD99|Q5SZR2|Q9BSW8 hg19 CCDS1003.1 0.02 17.22104 GCGxTGT COVERED NOVEL MRPL9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000036653.2 0 53.215438 KEEP 0 0 0 177 5413 AA 1 1 0 - 20 60 756 0 0 51.517397 344 60 12306 690 ENST00000368830.3 0.054945 1 HRNR 388697 __UNKNOWN__ __UNKNOWN__ 1 152186708 152186708 __UNKNOWN__ Missense_Mutation SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:152186708C>T ENST00000368801.2 - 3 7472 c.7397G>A c.(7396-7398)cGc>cAc p.R2466H FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 2466 NA establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424) cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) calcium ion binding (GO:0005509) autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGTCCTGAGCGAGACTCTCG 0.557 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense AB104446 CCDS30859.1 1q21.3 2013-01-10 ENSG00000197915 ENSG00000197915 388697 EF-hand domain containing 20846 protein-coding gene gene with protein product filaggrin family member 3 NA Standard XM_373868 NM_001009931 NA Approved S100a18, S100A16, FLG3 uc001ezt.2 Q86YZ3 OTTHUMG00000012243 ENST00000368801.2:c.7397G>A chr1.hg19:g.152186708C>T ENSP00000357791:p.Arg2466His NA Q5DT20|Q5U1F4 hg19 CCDS30859.1 0.02 11.113534 GAGxGAG COVERED . . . . . . . . . . - 5.335 0.247135 0.10130 . . ENSG00000197915 ENST00000368801 T 0.01745 4.66 3.45 -2.29 0.06805 . . . . . T 0.00356 0.0011 L 0.29908 0.895 0.09310 N 1 B 0.06786 0.001 B 0.04013 0.001 T 0.46978 -0.9152 9 0.12766 T 0.61 . 0.1441 0.00086 0.3045:0.2442:0.1494:0.3019 . 2466 Q86YZ3 HORN_HUMAN H 2466 ENSP00000357791:R2466H ENSP00000357791:R2466H R - 2 0 HRNR 150453332 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 0.037000 0.13840 -0.321000 0.08627 -1.999000 0.00445 CGC NOVEL HRNR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000034016.1 18 21.666917 KEEP 203 0 0 72 2415 CC 1 1 0 - 11 25 397 0 0 24.68644 277 37 9791 631 ENST00000368801.2 0.038194 1 HRNR 388697 __UNKNOWN__ __UNKNOWN__ 1 152187510 152187510 __UNKNOWN__ Missense_Mutation SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:152187510C>T ENST00000368801.2 - 3 6670 c.6595G>A c.(6595-6597)Ggc>Agc p.G2199S FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 2199 NA establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424) cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) calcium ion binding (GO:0005509) autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCATGTTGGCCGTGGCTGGAG 0.632 NA NA NA NA NA NA NA NA NA NA NA 0 49 66 61 NA NA 1 NA 152187510 2172 4285 6457 SO:0001583 missense AB104446 CCDS30859.1 1q21.3 2013-01-10 ENSG00000197915 ENSG00000197915 388697 EF-hand domain containing 20846 protein-coding gene gene with protein product filaggrin family member 3 NA Standard XM_373868 NM_001009931 NA Approved S100a18, S100A16, FLG3 uc001ezt.2 Q86YZ3 OTTHUMG00000012243 ENST00000368801.2:c.6595G>A chr1.hg19:g.152187510C>T ENSP00000357791:p.Gly2199Ser NA Q5DT20|Q5U1F4 hg19 CCDS30859.1 0.02 7.206309 GGCxGTG COVERED . . . . . . . . . . - 8.711 0.912060 0.17907 . . ENSG00000197915 ENST00000368801 T 0.17370 2.28 3.28 0.982 0.19762 . . . . . T 0.01156 0.0038 N 0.04880 -0.145 0.09310 N 1 P 0.48162 0.906 B 0.27380 0.079 T 0.37197 -0.9716 9 0.11794 T 0.64 . 5.1396 0.14952 0.0:0.51:0.0:0.49 rs61814942 2199 Q86YZ3 HORN_HUMAN S 2199 ENSP00000357791:G2199S ENSP00000357791:G2199S G - 1 0 HRNR 150454134 0.000000 0.05858 0.001000 0.08648 0.004000 0.04260 -1.145000 0.03194 0.054000 0.16065 0.558000 0.71614 GGC NOVEL HRNR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000034016.1 2 8.561321 KEEP 81 1 27 38 1319 CC 0.999931 0.999931 0 - 7 24 275 0 0 18.280999 157 48 5499 298 ENST00000368801.2 0.042683 1 HRNR 388697 __UNKNOWN__ __UNKNOWN__ 1 152187588 152187588 __UNKNOWN__ Missense_Mutation SNP C C T rs201071455 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:152187588C>T ENST00000368801.2 - 3 6592 c.6517G>A c.(6517-6519)Ggc>Agc p.G2173S FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 2173 NA establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424) cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) calcium ion binding (GO:0005509) autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCTTGTCGGCCGTGGCCCGAA 0.632 NA NA NA NA NA NA NA NA NA NA NA 0 105 129 121 NA NA 1 NA 152187588 1574 3256 4830 SO:0001583 missense AB104446 CCDS30859.1 1q21.3 2013-01-10 ENSG00000197915 ENSG00000197915 388697 EF-hand domain containing 20846 protein-coding gene gene with protein product filaggrin family member 3 NA Standard XM_373868 NM_001009931 NA Approved S100a18, S100A16, FLG3 uc001ezt.2 Q86YZ3 OTTHUMG00000012243 ENST00000368801.2:c.6517G>A chr1.hg19:g.152187588C>T ENSP00000357791:p.Gly2173Ser NA Q5DT20|Q5U1F4 hg19 CCDS30859.1 0.02 11.115008 GGCxGTG COVERED . . . . . . . . . . - 9.554 1.116776 0.20795 . . ENSG00000197915 ENST00000368801 T 0.01527 4.8 3.22 -0.994 0.10225 . . . . . T 0.00328 0.0010 N 0.16743 0.435 0.80722 P 0.0 B 0.27264 0.173 B 0.11329 0.006 T 0.35076 -0.9803 8 0.06494 T 0.89 . 7.4135 0.27032 0.0:0.5254:0.0:0.4746 . 2173 Q86YZ3 HORN_HUMAN S 2173 ENSP00000357791:G2173S ENSP00000357791:G2173S G - 1 0 HRNR 150454212 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -2.789000 0.00768 -0.075000 0.12798 -0.131000 0.14894 GGC NOVEL HRNR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000034016.1 2 3.116166 KEEP 94 6 178 73 2507 CC 1 1 0 - 14 46 511 0 0 34.263457 240 47 8430 495 ENST00000368801.2 0.055118 1 HRNR 388697 __UNKNOWN__ __UNKNOWN__ 1 152187606 152187606 __UNKNOWN__ Missense_Mutation SNP G G A rs139799138 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:152187606G>A ENST00000368801.2 - 3 6574 c.6499C>T c.(6499-6501)Cgt>Tgt p.R2167C FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 2167 NA establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424) cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) calcium ion binding (GO:0005509) autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GAAGACTGACGGGAGCCAGAC 0.632 NA NA NA NA NA NA NA NA NA NA NA 0 191 230 217 NA NA 1 NA 152187606 2197 4277 6474 SO:0001583 missense AB104446 CCDS30859.1 1q21.3 2013-01-10 ENSG00000197915 ENSG00000197915 388697 EF-hand domain containing 20846 protein-coding gene gene with protein product filaggrin family member 3 NA Standard XM_373868 NM_001009931 NA Approved S100a18, S100A16, FLG3 uc001ezt.2 Q86YZ3 OTTHUMG00000012243 ENST00000368801.2:c.6499C>T chr1.hg19:g.152187606G>A ENSP00000357791:p.Arg2167Cys NA Q5DT20|Q5U1F4 hg19 CCDS30859.1 0.02 16.796118 GACxGGA COVERED . . . . . . . . . . - 2.587 -0.296097 0.05532 . . ENSG00000197915 ENST00000368801 T 0.02216 4.39 2.68 -5.36 0.02689 . . . . . T 0.00524 0.0017 L 0.39898 1.24 0.09310 N 1 B 0.19445 0.036 B 0.08055 0.003 T 0.42649 -0.9439 9 0.56958 D 0.05 . 2.6528 0.05003 0.1157:0.4324:0.2495:0.2024 . 2167 Q86YZ3 HORN_HUMAN C 2167 ENSP00000357791:R2167C ENSP00000357791:R2167C R - 1 0 HRNR 150454230 0.000000 0.05858 0.000000 0.03702 0.014000 0.08584 -4.767000 0.00188 -2.797000 0.00353 -1.035000 0.02400 CGT NOVEL HRNR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000034016.1 6 8.526847 KEEP 67 6 190 95 3248 GG 1 1 0 - 16 46 616 0 0 40.803339 345 47 11944 657 ENST00000368801.2 0.044321 1 HRNR 388697 __UNKNOWN__ __UNKNOWN__ 1 152188118 152188118 __UNKNOWN__ Missense_Mutation SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:152188118C>T ENST00000368801.2 - 3 6062 c.5987G>A c.(5986-5988)cGc>cAc p.R1996H FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 1996 NA establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424) cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) calcium ion binding (GO:0005509) p.R1996L(1) autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGTCCTGAGCGAGACTCTCG 0.567 NA NA NA NA NA NA NA NA NA NA NA 1 Substitution - Missense(1) large_intestine(1) 15 23 21 NA NA 1 NA 152188118 1514 3278 4792 SO:0001583 missense AB104446 CCDS30859.1 1q21.3 2013-01-10 ENSG00000197915 ENSG00000197915 388697 EF-hand domain containing 20846 protein-coding gene gene with protein product filaggrin family member 3 NA Standard XM_373868 NM_001009931 NA Approved S100a18, S100A16, FLG3 uc001ezt.2 Q86YZ3 OTTHUMG00000012243 ENST00000368801.2:c.5987G>A chr1.hg19:g.152188118C>T ENSP00000357791:p.Arg1996His NA Q5DT20|Q5U1F4 hg19 CCDS30859.1 0.02 5.82781 GAGxGAG COVERED . . . . . . . . . . C 7.361 0.624908 0.14193 . . ENSG00000197915 ENST00000368801 T 0.02395 4.31 3.39 -2.43 0.06522 . . . . . T 0.00552 0.0018 L 0.27053 0.805 0.09310 N 1 B 0.24576 0.106 B 0.10450 0.005 T 0.47598 -0.9105 9 0.33141 T 0.24 . 0.8288 0.01126 0.1527:0.2386:0.2994:0.3093 . 1996 Q86YZ3 HORN_HUMAN H 1996 ENSP00000357791:R1996H ENSP00000357791:R1996H R - 2 0 HRNR 150454742 0.000000 0.05858 0.000000 0.03702 0.002000 0.02628 0.278000 0.18753 -0.350000 0.08262 0.505000 0.49811 CGC NOVEL HRNR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000034016.1 21 5.116292 KEEP 120 3 82 46 1560 CC 0.999997 0.999997 0 - 13 43 436 0 0 28.983216 185 50 6604 413 ENST00000368801.2 0.065657 1 FLG 2312 __UNKNOWN__ __UNKNOWN__ 1 152277826 152277826 __UNKNOWN__ Missense_Mutation SNP A A C rs2065957 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:152277826A>C ENST00000368799.1 - 3 9571 c.9536T>G c.(9535-9537)gTg>gGg p.V3179G FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 3179 Ser-rich. NA V -> G (in dbSNP:rs2065957). establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275) cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634) calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198) autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTGACGTGACACTGAGTGCCT 0.562 NA Ichthyosis C||| 1971 0.39357 0.4894 0.3674 5008 , , NA 16592 0.5883 NA 0.1123 False NA ,,, NA NA NA 2504 0.3712 NA NA NA NA 0 C GLY/VAL 1726,2668 459,808,930 291 288 289 9536 1.4 0 1 dbSNP_94 289 206,8380 70,66,4157 no missense FLG NM_002016.1 109 529,874,5087 CC,CA,AA 2.3993,39.2808,14.8844 benign 3179/4062 152277826 1932,11048 2197 4293 6490 SO:0001583 missense Familial Cancer Database X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris XM_048104 CCDS30860.1 1q21.3 2013-01-10 ENSG00000143631 ENSG00000143631 2312 EF-hand domain containing 3748 protein-coding gene gene with protein product 135940 NA 2740331, 2248957, 16444271 Standard NM_002016 NM_002016 NA Approved uc001ezu.1 P20930 OTTHUMG00000012202 ENST00000368799.1:c.9536T>G chr1.hg19:g.152277826A>C ENSP00000357789:p.Val3179Gly NA Q01720|Q5T583|Q9UC71 hg19 CCDS30860.1 0.02 7.011905 GACxCTG COVERED 694 0.31776556776556775 215 0.4369918699186992 106 0.292817679558011 295 0.5157342657342657 78 0.10290237467018469 C 2.008 -0.427778 0.04701 0.392808 0.023993 ENSG00000143631 ENST00000368799 T 0.00611 6.23 2.4 1.39 0.22231 . . . . . T 0.00039 0.0001 N 0.00047 -2.43 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.01440 -1.1354 8 0.13853 T 0.58 . 4.6308 0.12500 0.2531:0.4998:0.2472:0.0 . 3179 P20930 FILA_HUMAN G 3179 ENSP00000357789:V3179G ENSP00000357789:V3179G V - 2 0 FLG 150544450 0.000000 0.05858 0.001000 0.08648 0.018000 0.09664 -0.604000 0.05667 -0.075000 0.12798 -0.383000 0.06682 GTG NOVEL FLG-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000033742.1 1 2.740245 KEEP 2 1 34 21 627 AA 0.999892 0.999892 0 - 40 40 1429 0 0 123.680818 114 60 4071 211 ENST00000368799.1 0.25974 1 FLG 2312 __UNKNOWN__ __UNKNOWN__ 1 152278555 152278555 __UNKNOWN__ Missense_Mutation SNP T T C rs80221306 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:152278555T>C ENST00000368799.1 - 3 8842 c.8807A>G c.(8806-8808)gAc>gGc p.D2936G FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2936 Ser-rich. NA establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275) cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634) calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198) autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ACCAGCTCTGTCTTCTTGATG 0.552 NA Ichthyosis NA NA NA NA NA NA NA NA NA NA 0 T GLY/ASP 267,3373 3,261,1556 22 34 31 8807 1.3 0 1 dbSNP_131 31 809,7583 0,809,3387 no missense FLG NM_002016.1 94 3,1070,4943 CC,CT,TT 9.6401,7.3352,8.9428 benign 2936/4062 152278555 1076,10956 1820 4196 6016 SO:0001583 missense Familial Cancer Database X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris XM_048104 CCDS30860.1 1q21.3 2013-01-10 ENSG00000143631 ENSG00000143631 2312 EF-hand domain containing 3748 protein-coding gene gene with protein product 135940 NA 2740331, 2248957, 16444271 Standard NM_002016 NM_002016 NA Approved uc001ezu.1 P20930 OTTHUMG00000012202 ENST00000368799.1:c.8807A>G chr1.hg19:g.152278555T>C ENSP00000357789:p.Asp2936Gly NA Q01720|Q5T583|Q9UC71 hg19 CCDS30860.1 0.02 4.988798 CTGxCTT UNCOVERED . . . . . . . . . . T 7.089 0.571862 0.13623 0.073352 0.096401 ENSG00000143631 ENST00000368799 T 0.01685 4.69 1.29 1.29 0.21616 . . . . . T 0.00815 0.0027 M 0.70595 2.14 0.80722 P 0.0 B 0.17852 0.024 B 0.10450 0.005 T 0.39375 -0.9617 8 0.22706 T 0.39 . 4.7721 0.13160 0.0:0.0:0.0:1.0 . 2936 P20930 FILA_HUMAN G 2936 ENSP00000357789:D2936G ENSP00000357789:D2936G D - 2 0 FLG 150545179 0.000000 0.05858 0.001000 0.08648 0.004000 0.04260 -0.386000 0.07370 0.851000 0.35264 0.248000 0.18094 GAC NOVEL FLG-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000033742.1 1 2.338279 KEEP 109 1 26 17 525 TT 0 0 0 - 33 40 1225 0 0 110.532568 68 40 2368 237 ENST00000368799.1 0.326733 0.999973 FLG 2312 __UNKNOWN__ __UNKNOWN__ 1 152281707 152281707 __UNKNOWN__ Silent SNP G G A rs199567641 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:152281707G>A ENST00000368799.1 - 3 5690 c.5655C>T c.(5653-5655)caC>caT p.H1885H FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1885 Ser-rich. NA establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275) cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634) calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198) autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AAGCTTCATGGTGACGCGACC 0.572 NA Ichthyosis G||| 4 0.000798722 0.0 0.0 5008 , , NA 19041 0.003 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 286 287 287 NA NA 1 NA 152281707 2203 4300 6503 SO:0001819 synonymous_variant Familial Cancer Database X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris XM_048104 CCDS30860.1 1q21.3 2013-01-10 ENSG00000143631 ENSG00000143631 2312 EF-hand domain containing 3748 protein-coding gene gene with protein product 135940 NA 2740331, 2248957, 16444271 Standard NM_002016 NM_002016 NA Approved uc001ezu.1 P20930 OTTHUMG00000012202 ENST00000368799.1:c.5655C>T chr1.hg19:g.152281707G>A NA Q01720|Q5T583|Q9UC71 hg19 CCDS30860.1 0.02 21.076311 ATGxTGA COVERED NOVEL FLG-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000033742.1 3 17.456993 KEEP 0 0 0 58 2070 GG 1 1 0 - 22 60 780 0 0 48.949158 499 60 18369 710 ENST00000368799.1 0.042226 1 S100A14 57402 __UNKNOWN__ __UNKNOWN__ 1 153587256 153587256 __UNKNOWN__ 3'UTR SNP A A T rs11548102 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:153587256A>T ENST00000368702.1 - 0 692 S100A14_ENST00000476873.1_3'UTR|S100A14_ENST00000368701.1_3'UTR|S100A14_ENST00000368700.3_5'UTR|S100A14_ENST00000344616.2_3'UTR Q9HCY8 S10AE_HUMAN S100 calcium binding protein A14 NA NA apoptotic process (GO:0006915)|calcium ion homeostasis (GO:0055074)|defense response to bacterium (GO:0042742)|positive regulation of granulocyte chemotaxis (GO:0071624)|positive regulation of monocyte chemotaxis (GO:0090026)|response to lipopolysaccharide (GO:0032496)|toll-like receptor 4 signaling pathway (GO:0034142) extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471) calcium ion binding (GO:0005509)|chemokine receptor binding (GO:0042379) kidney(2)|large_intestine(1)|lung(1) 4 all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) TGCAGAGATGAGGACAGGTGC 0.572 NA A||| 2117 0.422724 0.0772 0.5994 5008 , , NA 16091 0.6736 NA 0.4612 False NA ,,, NA NA NA 2504 0.4663 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY007220 CCDS1046.1 1q21.1 2008-02-05 ENSG00000189334 ENSG00000189334 57402 S100 calcium binding proteins 18901 protein-coding gene gene with protein product 607986 NA 11944983 Standard NM_020672 NM_020672 NA Approved S100A15, BCMP84 uc001fce.3 Q9HCY8 OTTHUMG00000035030 ENST00000368702.1:c.*105T>A chr1.hg19:g.153587256A>T NA Q5RHT0 hg19 CCDS1046.1 0.02 6.273199 ATGxGGA COVERED NOVEL S100A14-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000084788.2 1 18.050085 KEEP 0 0 0 60 1863 AA 1 1 0 - 12 60 424 0 0 29.296185 158 60 5671 251 ENST00000368702.1 0.070588 1 S100A14 57402 __UNKNOWN__ __UNKNOWN__ 1 153587308 153587308 __UNKNOWN__ 3'UTR SNP C C T rs11548104 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:153587308C>T ENST00000368702.1 - 0 640 S100A14_ENST00000476873.1_3'UTR|S100A14_ENST00000368701.1_3'UTR|S100A14_ENST00000368700.3_5'UTR|S100A14_ENST00000344616.2_3'UTR Q9HCY8 S10AE_HUMAN S100 calcium binding protein A14 NA NA apoptotic process (GO:0006915)|calcium ion homeostasis (GO:0055074)|defense response to bacterium (GO:0042742)|positive regulation of granulocyte chemotaxis (GO:0071624)|positive regulation of monocyte chemotaxis (GO:0090026)|response to lipopolysaccharide (GO:0032496)|toll-like receptor 4 signaling pathway (GO:0034142) extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471) calcium ion binding (GO:0005509)|chemokine receptor binding (GO:0042379) kidney(2)|large_intestine(1)|lung(1) 4 all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) CAAGTTTTATCTCCAGGCCCA 0.572 NA T||| 3316 0.662141 0.77 0.7032 5008 , , NA 15290 0.6776 NA 0.5149 False NA ,,, NA NA NA 2504 0.6227 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY007220 CCDS1046.1 1q21.1 2008-02-05 ENSG00000189334 ENSG00000189334 57402 S100 calcium binding proteins 18901 protein-coding gene gene with protein product 607986 NA 11944983 Standard NM_020672 NM_020672 NA Approved S100A15, BCMP84 uc001fce.3 Q9HCY8 OTTHUMG00000035030 ENST00000368702.1:c.*53G>A chr1.hg19:g.153587308C>T NA Q5RHT0 hg19 CCDS1046.1 0.02 8.721659 TATxTCC COVERED NOVEL S100A14-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000084788.2 2 26.785306 KEEP 0 0 0 89 3128 CC 1 1 0 - 20 60 717 0 0 52.186193 199 60 7369 377 ENST00000368702.1 0.091324 1 S100A14 57402 __UNKNOWN__ __UNKNOWN__ 1 153588208 153588208 __UNKNOWN__ Intron SNP G G A rs9792963 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:153588208G>A ENST00000368702.1 - 3 303 S100A14_ENST00000476873.1_Intron|S100A14_ENST00000368701.1_Intron|S100A14_ENST00000368700.3_Intron|S100A14_ENST00000344616.2_Intron Q9HCY8 S10AE_HUMAN S100 calcium binding protein A14 NA NA apoptotic process (GO:0006915)|calcium ion homeostasis (GO:0055074)|defense response to bacterium (GO:0042742)|positive regulation of granulocyte chemotaxis (GO:0071624)|positive regulation of monocyte chemotaxis (GO:0090026)|response to lipopolysaccharide (GO:0032496)|toll-like receptor 4 signaling pathway (GO:0034142) extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471) calcium ion binding (GO:0005509)|chemokine receptor binding (GO:0042379) kidney(2)|large_intestine(1)|lung(1) 4 all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) TGCAGGGCAAGGCCAAGGTGA 0.597 NA G||| 2115 0.422324 0.0772 0.598 5008 , , NA 19914 0.6726 NA 0.4612 False NA ,,, NA NA NA 2504 0.4663 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY007220 CCDS1046.1 1q21.1 2008-02-05 ENSG00000189334 ENSG00000189334 57402 S100 calcium binding proteins 18901 protein-coding gene gene with protein product 607986 NA 11944983 Standard NM_020672 NM_020672 NA Approved S100A15, BCMP84 uc001fce.3 Q9HCY8 OTTHUMG00000035030 ENST00000368702.1:c.30+96C>T chr1.hg19:g.153588208G>A NA Q5RHT0 hg19 CCDS1046.1 0.02 1.777622 CAAxGCC COVERED NOVEL S100A14-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000084788.2 0 3.912681 KEEP 0 0 0 13 450 GG 0.994391 0.993712 0 - 6 60 208 0 0 14.377129 75 60 2824 101 ENST00000368702.1 0.074074 0.999317 S100A14 57402 __UNKNOWN__ __UNKNOWN__ 1 153588279 153588279 __UNKNOWN__ Intron SNP G G A rs9792967 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:153588279G>A ENST00000368702.1 - 3 303 S100A14_ENST00000476873.1_Intron|S100A14_ENST00000368701.1_Intron|S100A14_ENST00000368700.3_Intron|S100A14_ENST00000344616.2_Intron Q9HCY8 S10AE_HUMAN S100 calcium binding protein A14 NA NA apoptotic process (GO:0006915)|calcium ion homeostasis (GO:0055074)|defense response to bacterium (GO:0042742)|positive regulation of granulocyte chemotaxis (GO:0071624)|positive regulation of monocyte chemotaxis (GO:0090026)|response to lipopolysaccharide (GO:0032496)|toll-like receptor 4 signaling pathway (GO:0034142) extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471) calcium ion binding (GO:0005509)|chemokine receptor binding (GO:0042379) kidney(2)|large_intestine(1)|lung(1) 4 all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) TGTGGGAGCAGAAAGGCCAGG 0.587 NA G||| 2115 0.422324 0.0772 0.598 5008 , , NA 19274 0.6726 NA 0.4612 False NA ,,, NA NA NA 2504 0.4663 NA NA NA NA 0 G 679,3727 284.9+/-277.9 56,567,1580 246 152 184 2.6 0 1 dbSNP_119 184 4154,4446 561.8+/-387.8 1005,2144,1151 no intron S100A14 NM_020672.1 1061,2711,2731 AA,AG,GG 48.3023,15.4108,37.1598 153588279 4833,8173 2203 4300 6503 SO:0001627 intron_variant AY007220 CCDS1046.1 1q21.1 2008-02-05 ENSG00000189334 ENSG00000189334 57402 S100 calcium binding proteins 18901 protein-coding gene gene with protein product 607986 NA 11944983 Standard NM_020672 NM_020672 NA Approved S100A15, BCMP84 uc001fce.3 Q9HCY8 OTTHUMG00000035030 ENST00000368702.1:c.30+25C>T chr1.hg19:g.153588279G>A NA Q5RHT0 hg19 CCDS1046.1 0.02 9.150097 GCAxAAA COVERED NOVEL S100A14-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000084788.2 2 15.886737 KEEP 0 1 32 64 2313 GG 1 1 0 - 17 60 602 0 0 42.061907 211 60 8054 350 ENST00000368702.1 0.074561 1 S100A1 6271 __UNKNOWN__ __UNKNOWN__ 1 153604029 153604029 __UNKNOWN__ Intron SNP C C T rs1046379 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:153604029C>T ENST00000292169.1 + 3 254 S100A1_ENST00000469893.1_Intron|S100A1_ENST00000368698.3_Intron|RP1-178F15.5_ENST00000497086.1_RNA|S100A1_ENST00000368696.3_3'UTR|S100A13_ENST00000368699.1_Intron|RP1-178F15.4_ENST00000607839.1_RNA NM_006271.1 NP_006262.1 P23297 S10A1_HUMAN S100 calcium binding protein A1 NA NA intracellular signal transduction (GO:0035556)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of voltage-gated calcium channel activity (GO:1901387)|regulation of heart contraction (GO:0008016)|substantia nigra development (GO:0021762) M band (GO:0031430)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|Z disc (GO:0030018) ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|S100 protein binding (GO:0044548) breast(1)|cervix(1)|lung(2) 4 all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) Olopatadine(DB00768) CCCTCAAGACCTTTGAGGAGG 0.478 NA T||| 4324 0.863419 0.9909 0.9049 5008 , , NA 17588 0.8353 NA 0.7147 False NA ,,, NA NA NA 2504 0.8436 NA NA NA Ovarian(74;601 1703 10548 31787) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC014392 CCDS1047.1 1q21 2013-01-10 2001-11-28 ENSG00000160678 ENSG00000160678 6271 S100 calcium binding proteins, EF-hand domain containing 10486 protein-coding gene gene with protein product 176940 S100 calcium-binding protein A1 S100A NA 1998503 Standard NM_006271 NM_006271 NA Approved S100-alpha uc001fck.1 P23297 OTTHUMG00000037041 ENST00000292169.1:c.142-145C>T chr1.hg19:g.153604029C>T NA B2R5D9|Q5T7Y3 hg19 CCDS1047.1 0.02 27.575692 GACxTTT COVERED NOVEL S100A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000089933.1 3 36.468525 KEEP 0 2 65 144 5091 CC 1 1 0 + 43 60 1586 0 0 111.512763 570 60 21064 909 ENST00000292169.1 0.070147 1 S100A1 6271 __UNKNOWN__ __UNKNOWN__ 1 153604112 153604112 __UNKNOWN__ Intron SNP G G A rs1046381 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:153604112G>A ENST00000292169.1 + 3 254 S100A1_ENST00000469893.1_Intron|S100A1_ENST00000368698.3_Intron|RP1-178F15.5_ENST00000497086.1_RNA|S100A1_ENST00000368696.3_3'UTR|S100A13_ENST00000368699.1_Intron|RP1-178F15.4_ENST00000607839.1_RNA NM_006271.1 NP_006262.1 P23297 S10A1_HUMAN S100 calcium binding protein A1 NA NA intracellular signal transduction (GO:0035556)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of voltage-gated calcium channel activity (GO:1901387)|regulation of heart contraction (GO:0008016)|substantia nigra development (GO:0021762) M band (GO:0031430)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|Z disc (GO:0030018) ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|S100 protein binding (GO:0044548) breast(1)|cervix(1)|lung(2) 4 all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) Olopatadine(DB00768) CCACCCCCTTGCCTCTGACTC 0.542 NA G||| 2946 0.588259 0.4917 0.6902 5008 , , NA 14487 0.6825 NA 0.5249 False NA ,,, NA NA NA 2504 0.6145 NA NA NA Ovarian(74;601 1703 10548 31787) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC014392 CCDS1047.1 1q21 2013-01-10 2001-11-28 ENSG00000160678 ENSG00000160678 6271 S100 calcium binding proteins, EF-hand domain containing 10486 protein-coding gene gene with protein product 176940 S100 calcium-binding protein A1 S100A NA 1998503 Standard NM_006271 NM_006271 NA Approved S100-alpha uc001fck.1 P23297 OTTHUMG00000037041 ENST00000292169.1:c.142-62G>A chr1.hg19:g.153604112G>A NA B2R5D9|Q5T7Y3 hg19 CCDS1047.1 0.02 31.930879 CTTxCCT COVERED NOVEL S100A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000089933.1 3 52.972801 KEEP 0 0 0 176 6319 GG 1 1 0 + 65 60 2154 0 0 148.879106 732 60 27937 1209 ENST00000292169.1 0.081556 1 CHTOP 26097 __UNKNOWN__ __UNKNOWN__ 1 153609039 153609039 __UNKNOWN__ Intron SNP T T C rs4845557 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:153609039T>C ENST00000368694.3 + 2 295 CHTOP_ENST00000403433.1_Intron|CHTOP_ENST00000495554.1_Intron NM_001206612.1|NM_015607.3 NP_001193541.1|NP_056422.2 Q9Y3Y2 CHTOP_HUMAN chromatin target of PRMT1 NA NA mRNA export from nucleus (GO:0006406)|positive regulation of ATPase activity (GO:0032781)|positive regulation of helicase activity (GO:0051096)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nuclear speck (GO:0016607)|transcription export complex (GO:0000346) poly(A) RNA binding (GO:0044822) endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(6) 13 TACGTATTGTTCTTTGTAGAT 0.418 NA C||| 3186 0.636182 0.612 0.7104 5008 , , NA 18362 0.6925 NA 0.5258 False NA ,,, NA NA NA 2504 0.6718 NA NA NA NA 0 C , 2660,1746 521.9+/-370.6 776,1108,319 53 49 51 , -0.3 0 1 dbSNP_111 51 4732,3868 542.0+/-384.1 1300,2132,868 no intron,intron CHTOP NM_001206612.1,NM_015607.3 , 2076,3240,1187 CC,CT,TT 44.9767,39.6278,43.1647 , , 153609039 7392,5614 2203 4300 6503 SO:0001627 intron_variant CCDS1048.1, CCDS72917.1, CCDS72918.1 1q21.3 2011-03-24 2011-03-24 2011-03-24 ENSG00000160679 ENSG00000160679 26097 24511 protein-coding gene gene with protein product small protein rich in arginine and glycine, Friend of Prmt1 614206 chromosome 1 open reading frame 77 C1orf77 NA 19254951 Standard NM_015607 NM_015607 NA Approved DKFZP547E1010, SRAG, FOP uc001fcn.2 Q9Y3Y2 OTTHUMG00000037052 ENST00000368694.3:c.-17-9T>C chr1.hg19:g.153609039T>C NA D3DV55|Q0VAQ8|Q2VPI9|Q5T7Y8|Q5T7Y9|Q5T7Z0|Q6NSM4|Q6PB28|Q8WYT9|Q9BUC5|Q9H034|Q9H2L0 hg19 CCDS1048.1 0.02 12.238766 TGTxCTT COVERED NOVEL CHTOP-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000089967.1 1 37.286809 KEEP 0 0 0 124 3770 TT 1 1 0 + 22 60 825 0 0 60.191775 240 60 8726 494 ENST00000368694.3 0.083969 1 CHTOP 26097 __UNKNOWN__ __UNKNOWN__ 1 153615327 153615327 __UNKNOWN__ Intron SNP A A T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:153615327A>T ENST00000368694.3 + 5 715 CHTOP_ENST00000403433.1_Intron|CHTOP_ENST00000368690.3_Intron|CHTOP_ENST00000495554.1_Intron|CHTOP_ENST00000368686.1_3'UTR|CHTOP_ENST00000368687.1_Intron NM_001206612.1|NM_015607.3 NP_001193541.1|NP_056422.2 Q9Y3Y2 CHTOP_HUMAN chromatin target of PRMT1 NA NA mRNA export from nucleus (GO:0006406)|positive regulation of ATPase activity (GO:0032781)|positive regulation of helicase activity (GO:0051096)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nuclear speck (GO:0016607)|transcription export complex (GO:0000346) poly(A) RNA binding (GO:0044822) endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(6) 13 ATATATGTTCATTTGGGGCAC 0.378 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS1048.1, CCDS72917.1, CCDS72918.1 1q21.3 2011-03-24 2011-03-24 2011-03-24 ENSG00000160679 ENSG00000160679 26097 24511 protein-coding gene gene with protein product small protein rich in arginine and glycine, Friend of Prmt1 614206 chromosome 1 open reading frame 77 C1orf77 NA 19254951 Standard NM_015607 NM_015607 NA Approved DKFZP547E1010, SRAG, FOP uc001fcn.2 Q9Y3Y2 OTTHUMG00000037052 ENST00000368694.3:c.404-376A>T chr1.hg19:g.153615327A>T NA D3DV55|Q0VAQ8|Q2VPI9|Q5T7Y8|Q5T7Y9|Q5T7Z0|Q6NSM4|Q6PB28|Q8WYT9|Q9BUC5|Q9H034|Q9H2L0 hg19 CCDS1048.1 0.02 4.645366 TTCxTTT COVERED NOVEL CHTOP-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000089967.1 1 9.929251 KEEP 0 0 0 33 1030 AA 0.999998 0.999985 0 + 7 60 258 0 0 17.943866 99 60 3685 166 ENST00000368694.3 0.066038 0.999987 CHTOP 26097 __UNKNOWN__ __UNKNOWN__ 1 153618766 153618766 __UNKNOWN__ 3'UTR SNP C C T rs7934 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:153618766C>T ENST00000368694.3 + 0 2080 CHTOP_ENST00000403433.1_3'UTR NM_001206612.1|NM_015607.3 NP_001193541.1|NP_056422.2 Q9Y3Y2 CHTOP_HUMAN chromatin target of PRMT1 NA NA mRNA export from nucleus (GO:0006406)|positive regulation of ATPase activity (GO:0032781)|positive regulation of helicase activity (GO:0051096)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nuclear speck (GO:0016607)|transcription export complex (GO:0000346) poly(A) RNA binding (GO:0044822) endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(6) 13 TTATAACAAACTGTTCGCTTA 0.363 NA T||| 3183 0.635583 0.612 0.7104 5008 , , NA 20809 0.6905 NA 0.5258 False NA ,,, NA NA NA 2504 0.6708 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS1048.1, CCDS72917.1, CCDS72918.1 1q21.3 2011-03-24 2011-03-24 2011-03-24 ENSG00000160679 ENSG00000160679 26097 24511 protein-coding gene gene with protein product small protein rich in arginine and glycine, Friend of Prmt1 614206 chromosome 1 open reading frame 77 C1orf77 NA 19254951 Standard NM_015607 NM_015607 NA Approved DKFZP547E1010, SRAG, FOP uc001fcn.2 Q9Y3Y2 OTTHUMG00000037052 ENST00000368694.3:c.*1021C>T chr1.hg19:g.153618766C>T NA D3DV55|Q0VAQ8|Q2VPI9|Q5T7Y8|Q5T7Y9|Q5T7Z0|Q6NSM4|Q6PB28|Q8WYT9|Q9BUC5|Q9H034|Q9H2L0 hg19 CCDS1048.1 0.02 4.068384 AAAxTGT COVERED NOVEL CHTOP-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000089967.1 0 12.339942 KEEP 0 0 0 41 1459 CC 1 1 0 + 12 60 425 0 0 30.113451 137 60 5153 226 ENST00000368694.3 0.080537 1 SNAPIN 23557 __UNKNOWN__ __UNKNOWN__ 1 153634058 153634058 __UNKNOWN__ 3'UTR SNP G G T rs7345 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:153634058G>T ENST00000368685.5 + 0 782 NM_012437.5 NP_036569.1 O95295 SNAPN_HUMAN SNAP-associated protein NA NA anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|negative regulation of neuron projection development (GO:0010977)|neuron projection development (GO:0031175)|neurotransmitter secretion (GO:0007269)|positive regulation of late endosome to lysosome transport (GO:1902824)|regulation of protein binding (GO:0043393)|synaptic vesicle exocytosis (GO:0016079)|synaptic vesicle fusion to presynaptic membrane (GO:0031629)|synaptic vesicle maturation (GO:0016188)|synaptic vesicle transport (GO:0048489)|terminal button organization (GO:0072553)|viral process (GO:0016032) BLOC-1 complex (GO:0031083)|cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)|secretory granule (GO:0030141)|synapse (GO:0045202)|synaptic vesicle (GO:0008021) SNARE binding (GO:0000149) lung(3) 3 all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) AGCTGCATACGTGAGGCTTAC 0.453 NA T||| 3383 0.675519 0.7753 0.7104 5008 , , NA 18026 0.6954 NA 0.5199 False NA ,,, NA NA NA 2504 0.6554 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF086837 CCDS1049.1 1q22 2013-09-27 2007-11-14 ENSG00000143553 ENSG00000143553 23557 Biogenesis of lysosomal organelles complex-1 subunits 17145 protein-coding gene gene with protein product snapin, SNAP-25-binding protein, biogenesis of lysosomal organelles complex-1, subunit 7 607007 SNAPAP NA 10195194, 12659861 Standard NM_012437 NM_012437 NA Approved BLOC1S7 uc001fcq.4 O95295 OTTHUMG00000037086 ENST00000368685.5:c.*281G>T chr1.hg19:g.153634058G>T NA D3DV56|Q5SXU8 hg19 CCDS1049.1 0.02 4.165813 TACxTGA COVERED NOVEL SNAPIN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000090036.1 2 8.727191 KEEP 0 0 0 29 973 GG 0.999997 0.999978 0 + 9 60 312 0 0 22.28755 93 60 3162 158 ENST00000368685.5 0.088235 0.999981 ILF2 3608 __UNKNOWN__ __UNKNOWN__ 1 153636860 153636860 __UNKNOWN__ Intron SNP A A G rs4351684 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:153636860A>G ENST00000361891.4 - 9 782 ILF2_ENST00000480213.1_Intron NM_001267809.1|NM_004515.3 NP_001254738.1|NP_004506.2 Q12905 ILF2_HUMAN interleukin enhancer binding factor 2 NA NA immune response (GO:0006955)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529) ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|transferase activity (GO:0016740) cervix(1)|kidney(1)|lung(4)|skin(1) 7 all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) AAATGGTTAGAGAGGGACTCA 0.453 NA G||| 3261 0.651158 0.6838 0.7089 5008 , , NA 19797 0.6954 NA 0.5199 False NA ,,, NA NA NA 2504 0.6554 NA NA NA NA 0 G 2920,1486 476.6+/-357.7 953,1014,236 103 96 99 -7.2 0 1 dbSNP_111 99 4658,3942 549.2+/-385.5 1259,2140,901 no intron ILF2 NM_004515.2 2212,3154,1137 GG,GA,AA 45.8372,33.7267,41.7346 153636860 7578,5428 2203 4300 6503 SO:0001627 intron_variant U10323 CCDS1050.1, CCDS72919.1 1q21.3 2012-12-04 2012-12-04 ENSG00000143621 ENSG00000143621 3608 6037 protein-coding gene gene with protein product 603181 interleukin enhancer binding factor 2, 45kD, interleukin enhancer binding factor 2, 45kDa NA 7519613 Standard NM_004515 NM_004515 NA Approved NF45 uc001fcr.4 Q12905 OTTHUMG00000037087 ENST00000361891.4:c.656+11T>C chr1.hg19:g.153636860A>G NA A6NDB0|B2R8G7|Q5SR10|Q5SR11|Q7L7R3|Q9BWD4|Q9P1N0 hg19 CCDS1050.1 0.02 16.625221 TAGxGAG COVERED NOVEL ILF2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000090040.1 2 33.099039 KEEP 0 0 0 110 3536 AA 1 1 0 - 29 60 1039 0 0 74.264361 323 60 11767 570 ENST00000361891.4 0.082386 1 ILF2 3608 __UNKNOWN__ __UNKNOWN__ 1 153637617 153637617 __UNKNOWN__ Intron SNP G G A rs3862047 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:153637617G>A ENST00000361891.4 - 8 703 NM_001267809.1|NM_004515.3 NP_001254738.1|NP_004506.2 Q12905 ILF2_HUMAN interleukin enhancer binding factor 2 NA NA immune response (GO:0006955)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529) ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|transferase activity (GO:0016740) cervix(1)|kidney(1)|lung(4)|skin(1) 7 all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) ATAGCAACAAGCTAAGTAAAC 0.358 NA G||| 2354 0.470048 0.2277 0.611 5008 , , NA 19324 0.6815 NA 0.4443 False NA ,,, NA NA NA 2504 0.5061 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U10323 CCDS1050.1, CCDS72919.1 1q21.3 2012-12-04 2012-12-04 ENSG00000143621 ENSG00000143621 3608 6037 protein-coding gene gene with protein product 603181 interleukin enhancer binding factor 2, 45kD, interleukin enhancer binding factor 2, 45kDa NA 7519613 Standard NM_004515 NM_004515 NA Approved NF45 uc001fcr.4 Q12905 OTTHUMG00000037087 ENST00000361891.4:c.577+78C>T chr1.hg19:g.153637617G>A NA A6NDB0|B2R8G7|Q5SR10|Q5SR11|Q7L7R3|Q9BWD4|Q9P1N0 hg19 CCDS1050.1 0.02 2.12082 CAAxCTA COVERED NOVEL ILF2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000090040.1 3 9.028444 KEEP 0 0 0 30 1033 GG 0.999997 0.998693 0 - 6 60 218 0 0 15.549114 70 60 2673 124 ENST00000361891.4 0.078947 0.998696 UBAP2L 9898 __UNKNOWN__ __UNKNOWN__ 1 154207635 154207635 __UNKNOWN__ Intron SNP G G T rs567039769|rs12023901 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:154207635G>T ENST00000361546.2 + 5 490 UBAP2L_ENST00000271877.7_Intron|UBAP2L_ENST00000428931.1_Intron|UBAP2L_ENST00000343815.6_Intron Q14157 UBP2L_HUMAN ubiquitin associated protein 2-like NA NA binding of sperm to zona pellucida (GO:0007339) poly(A) RNA binding (GO:0044822) NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2) 50 all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) TGGTTtttttgttgttgttgt 0.353 NA G||| 716 0.142971 0.0242 0.0706 5008 , , NA 17650 0.4256 NA 0.1332 False NA ,,, NA NA NA 2504 0.0736 NA NA NA NA 0 G , 97,4299 1,95,2102 14 16 16 , 0.7 0 1 dbSNP_120 16 683,7901 47,589,3656 no intron,intron UBAP2L NM_001127320.1,NM_014847.3 , 48,684,5758 TT,TG,GG 7.9567,2.2066,6.0092 , , 154207635 780,12200 2198 4292 6490 SO:0001627 intron_variant BC003170 CCDS1063.1, CCDS44229.1, CCDS72925.1 1q21.3 2008-02-05 ENSG00000143569 ENSG00000143569 9898 29877 protein-coding gene gene with protein product NA 8590280, 11230159 Standard NM_014847 NM_014847 NA Approved NICE-4, KIAA0144 uc001fep.4 Q14157 OTTHUMG00000035983 ENST00000361546.2:c.449-37G>T chr1.hg19:g.154207635G>T NA B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5 hg19 CCDS1063.1 0.02 1.637443 TTTxTTG COVERED NOVEL UBAP2L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000087673.1 3 7.524079 KEEP 0 0 0 25 852 GG 0.999931 0.99987 0 + 5 60 178 0 0 11.635882 92 60 3508 139 ENST00000361546.2 0.051546 0.99994 UBAP2L 9898 __UNKNOWN__ __UNKNOWN__ 1 154221089 154221089 __UNKNOWN__ Intron SNP G G C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:154221089G>C ENST00000361546.2 + 11 1056 UBAP2L_ENST00000271877.7_Intron|UBAP2L_ENST00000428931.1_Intron|UBAP2L_ENST00000343815.6_Intron Q14157 UBP2L_HUMAN ubiquitin associated protein 2-like NA NA binding of sperm to zona pellucida (GO:0007339) poly(A) RNA binding (GO:0044822) NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2) 50 all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) tcaggagatcgagaccatcct 0.527 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC003170 CCDS1063.1, CCDS44229.1, CCDS72925.1 1q21.3 2008-02-05 ENSG00000143569 ENSG00000143569 9898 29877 protein-coding gene gene with protein product NA 8590280, 11230159 Standard NM_014847 NM_014847 NA Approved NICE-4, KIAA0144 uc001fep.4 Q14157 OTTHUMG00000035983 ENST00000361546.2:c.1015-626G>C chr1.hg19:g.154221089G>C NA B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5 hg19 CCDS1063.1 0.02 -0.043868 ATCxAGA UNCOVERED NOVEL UBAP2L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000087673.1 4 2.708448 KEEP 1 0 0 9 298 GG 0.99257 0.023895 0 + 2 23 80 0 0 7.492818 3 60 114 20 ENST00000361546.2 0.4 0.024074 UBAP2L 9898 __UNKNOWN__ __UNKNOWN__ 1 154227239 154227239 __UNKNOWN__ Intron SNP C C A rs1194604 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:154227239C>A ENST00000361546.2 + 15 1896 UBAP2L_ENST00000271877.7_Intron|UBAP2L_ENST00000428931.1_Intron|UBAP2L_ENST00000343815.6_Intron Q14157 UBP2L_HUMAN ubiquitin associated protein 2-like NA NA binding of sperm to zona pellucida (GO:0007339) poly(A) RNA binding (GO:0044822) NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2) 50 all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) AATAAAGCTGCATCAGTGCTA 0.343 NA NA NA NA NA NA NA NA NA NA NA 0 57 49 51 NA NA 1 NA 154227239 692 1591 2283 SO:0001627 intron_variant BC003170 CCDS1063.1, CCDS44229.1, CCDS72925.1 1q21.3 2008-02-05 ENSG00000143569 ENSG00000143569 9898 29877 protein-coding gene gene with protein product NA 8590280, 11230159 Standard NM_014847 NM_014847 NA Approved NICE-4, KIAA0144 uc001fep.4 Q14157 OTTHUMG00000035983 ENST00000361546.2:c.1855-73C>A chr1.hg19:g.154227239C>A NA B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5 hg19 CCDS1063.1 0.02 1.962941 CTGxATC COVERED NOVEL UBAP2L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000087673.1 2 5.11673 KEEP 0 0 0 17 603 CC 0.999366 0.999274 0 + 6 60 203 0 0 13.487768 88 70 3239 114 ENST00000361546.2 0.06383 0.999907 ATP8B2 57198 __UNKNOWN__ __UNKNOWN__ 1 154317494 154317494 __UNKNOWN__ Silent SNP G G A rs151154478 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:154317494G>A ENST00000368489.3 + 22 2433 c.2433G>A c.(2431-2433)gcG>gcA p.A811A NM_020452.3 NP_065185.1 P98198 AT8B2_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 2 797 NA ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085) Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012) IL6R/ATP8B2(2) breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) TGGAGACAGCGTGTGCCTGCA 0.577 NA OREG0013835 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) G||| 11 0.00219649 0.0 0.0 5008 , , NA 19862 0.0109 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 105 104 104 NA NA 1 NA 154317494 2203 4300 6503 SO:0001819 synonymous_variant AB032963 CCDS1066.1, CCDS41405.1 1q21.3 2012-03-09 2012-03-09 ENSG00000143515 ENSG00000143515 57198 ATPases / P-type 13534 protein-coding gene gene with protein product 605867 ATPase, class I, type 8B, member 2 NA 10574461, 11015572 Standard NM_020452 NM_020452 NA Approved ATPID, KIAA1137 uc001fex.3 P98198 OTTHUMG00000035979 ENST00000368489.3:c.2433G>A chr1.hg19:g.154317494G>A 1762 B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7 hg19 CCDS1066.1 0.02 3.921775 AGCxTGT COVERED NOVEL ATP8B2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000087658.2 2 9.329333 KEEP 0 0 0 31 1058 GG 0.999997 0.999997 0 + 7 60 245 0 0 15.710911 136 60 4619 206 ENST00000368489.3 0.048951 1 IL6R 3570 __UNKNOWN__ __UNKNOWN__ 1 154401972 154401972 __UNKNOWN__ Intron SNP T T C rs6694817 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:154401972T>C ENST00000368485.3 + 2 771 IL6R_ENST00000344086.4_Intron NM_000565.3 NP_000556.1 P08887 IL6RA_HUMAN interleukin 6 receptor NA NA acute-phase response (GO:0006953)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|endocrine pancreas development (GO:0031018)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatic immune response (GO:0002384)|interleukin-6-mediated signaling pathway (GO:0070102)|monocyte chemotaxis (GO:0002548)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of interleukin-8 production (GO:0032717)|neutrophil mediated immunity (GO:0002446)|positive regulation of activation of Janus kinase activity (GO:0010536)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|response to cytokine (GO:0034097) apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-6 receptor complex (GO:0005896)|plasma membrane (GO:0005886) ciliary neurotrophic factor binding (GO:0070119)|cytokine receptor activity (GO:0004896)|enzyme binding (GO:0019899)|interleukin-6 binding (GO:0019981)|protein homodimerization activity (GO:0042803) IL6R/ATP8B2(2) breast(2)|large_intestine(1)|ovary(3) 6 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) Tocilizumab(DB06273) AAATGAGGCTTTGTGCATTCC 0.567 NA C||| 2854 0.569888 0.6891 0.6816 5008 , , NA 19436 0.4345 NA 0.5567 False NA ,,, NA NA NA 2504 0.4826 NA NA NA NA 0 C ,, 1779,849 610,559,145 20 25 23 ,, 0.2 0 1 dbSNP_116 23 2706,1902 807,1092,405 no intron,intron,intron IL6R NM_000565.3,NM_001206866.1,NM_181359.2 ,, 1417,1651,550 CC,CT,TT 41.276,32.3059,38.0182 ,, ,, 154401972 4485,2751 1314 2304 3618 SO:0001627 intron_variant X12830 CCDS1067.1, CCDS1068.1, CCDS72927.1 1q21 2013-01-11 ENSG00000160712 ENSG00000160712 3570 Interleukins and interleukin receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 6019 protein-coding gene gene with protein product 147880 NA Standard NM_000565 NM_000565 NA Approved CD126 uc001fez.2 P08887 OTTHUMG00000036073 ENST00000368485.3:c.334+52T>C chr1.hg19:g.154401972T>C NA A8KAE8|B2R6V4|Q16202|Q53EQ7|Q5FWG2|Q5VZ23 hg19 CCDS1067.1 0.02 9.780443 GCTxTGT COVERED NOVEL IL6R-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000087911.1 3 28.586454 KEEP 0 0 0 95 3023 TT 1 1 0 + 12 60 434 0 0 28.54375 224 60 8023 420 ENST00000368485.3 0.050847 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 154540225 154540225 __UNKNOWN__ IGR SNP G G A rs2072658|rs551465124|rs367904533 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:154540225G>A NA NA UBE2Q1 (8721 upstream) : CHRNB2 (31 downstream) NA NA NA TTTTTTTCCTGGGACCCAGCG 0.617 NA G||| 179 0.0357428 0.0008 0.0793 5008 , , NA 13773 0.1121 NA 0.007 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.154540225G>A NA hg19 0.02 3.999598 CCTxGGA COVERED NOVEL 0 1 9.631206 KEEP 0 0 0 32 1139 GG 0.999997 0.999966 0 7 60 226 0 0 14.943945 93 60 3513 164 0.07 0.999968 CHRNB2 1141 __UNKNOWN__ __UNKNOWN__ 1 154548946 154548946 __UNKNOWN__ 3'UTR SNP C C T rs4292956 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:154548946C>T ENST00000368476.3 + 0 2311 NM_000748.2 NP_000739.1 P17787 ACHB2_HUMAN cholinergic receptor, nicotinic, beta 2 (neuronal) NA NA action potential (GO:0001508)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|central nervous system projection neuron axonogenesis (GO:0021952)|cognition (GO:0050890)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|lateral geniculate nucleus development (GO:0021771)|learning (GO:0007612)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|neurological system process (GO:0050877)|optic nerve morphogenesis (GO:0021631)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|protein heterooligomerization (GO:0051291)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of circadian sleep/wake cycle, REM sleep (GO:0042320)|regulation of dendrite morphogenesis (GO:0048814)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine secretion (GO:0014059)|regulation of synapse assembly (GO:0051963)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|sensory perception of pain (GO:0019233)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)|vestibulocochlear nerve development (GO:0021562)|visual learning (GO:0008542)|visual perception (GO:0007601) acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211) acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)|ligand-gated ion channel activity (GO:0015276) cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3) 28 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) Dextromethorphan(DB00514)|Galantamine(DB00674)|Nicotine(DB00184) CAGTGGTCAGCGATTCCTGCC 0.627 NA C||| 419 0.0836661 0.059 0.0331 5008 , , NA 17083 0.1944 NA 0.0676 False NA ,,, NA NA NA 2504 0.0552 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U62437 CCDS1070.1 1q21.3 2012-02-11 2006-02-01 ENSG00000160716 ENSG00000160716 1141 Cholinergic receptors, Ligand-gated ion channels / Acetylcholine receptors, nicotinic 1962 protein-coding gene gene with protein product acetylcholine receptor, nicotinic, beta 2 (neuronal) 118507 cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal) NA 1505988 Standard NM_000748 NM_000748 NA Approved uc001ffg.3 P17787 OTTHUMG00000037262 ENST00000368476.3:c.*538C>T chr1.hg19:g.154548946C>T NA Q9UEH9 hg19 CCDS1070.1 0.02 8.140337 CAGxGAT COVERED NOVEL CHRNB2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000090697.1 0 21.669633 KEEP 0 0 0 72 2519 CC 1 1 0 + 12 60 399 0 0 24.96476 229 70 8025 381 ENST00000368476.3 0.049793 1 PMVK 10654 __UNKNOWN__ __UNKNOWN__ 1 154901677 154901677 __UNKNOWN__ Intron SNP G G A rs117630904 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:154901677G>A ENST00000368467.3 - 3 465 NM_006556.3 NP_006547.1 Q15126 PMVK_HUMAN phosphomevalonate kinase NA NA cholesterol biosynthetic process (GO:0006695)|isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287)|response to cholesterol (GO:0070723)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|peroxisome (GO:0005777) ATP binding (GO:0005524)|phosphomevalonate kinase activity (GO:0004631) endometrium(1)|kidney(1)|large_intestine(1)|lung(3) 6 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.142) BRCA - Breast invasive adenocarcinoma(34;0.00034) TTATGTCTACGTCACCGGCct 0.552 NA G||| 85 0.0169728 0.0 0.0 5008 , , NA 17153 0.0804 NA 0.0 False NA ,,, NA NA NA 2504 0.0041 NA NA NA NA 0 G 1,4405 2.1+/-5.4 0,1,2202 83 73 76 -1.3 0 1 dbSNP_132 76 1,8599 1.2+/-3.3 0,1,4299 no intron PMVK NM_006556.3 0,2,6501 AA,AG,GG 0.0116,0.0227,0.0154 154901677 2,13004 2203 4300 6503 SO:0001627 intron_variant L77213 CCDS1073.1 1q21.3 2012-09-20 ENSG00000163344 ENSG00000163344 10654 2.7.4.2 9141 protein-coding gene gene with protein product 607622 NA 8663599, 10191291 Standard NM_006556 NM_006556 NA Approved PMK, PMKA, HUMPMKI uc001ffq.3 Q15126 OTTHUMG00000037415 ENST00000368467.3:c.160-25C>T chr1.hg19:g.154901677G>A NA Q5TZW9 hg19 CCDS1073.1 0.02 3.885517 TACxTCA COVERED NOVEL PMVK-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000091088.1 2 7.657933 KEEP 0 1 27 35 1205 GG 0.999999 0.999994 0 - 5 60 167 0 0 10.201065 108 60 3835 182 ENST00000368467.3 0.044248 0.999995 SHC1 6464 __UNKNOWN__ __UNKNOWN__ 1 154942529 154942529 __UNKNOWN__ Silent SNP G G A rs8191982 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:154942529G>A ENST00000448116.2 - 1 694 c.474C>T c.(472-474)ccC>ccT p.P158P SHC1_ENST00000606391.1_Intron|SHC1_ENST00000368450.1_Silent_p.P48P|SHC1_ENST00000368449.4_Intron|SHC1_ENST00000368445.5_Silent_p.P158P|SHC1_ENST00000368453.4_Silent_p.P48P NM_001130040.1 NP_001123512.1 P29353 SHC1_HUMAN SHC (Src homology 2 domain containing) transforming protein 1 158 PID. {ECO:0000255|PROSITE- ProRule:PRU00148}. NA actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|Ras protein signal transduction (GO:0007265)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of growth (GO:0040008)|single organismal cell-cell adhesion (GO:0016337) cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|Shc-EGFR complex (GO:0070435) ephrin receptor binding (GO:0046875)|epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phospholipid binding (GO:0005543)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068) breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1) 20 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) AGGAAACCCCGGGTCCCATGA 0.612 NA G||| 37 0.00738818 0.0 0.0 5008 , , NA 13811 0.0367 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NSCLC(4;32 234 1864 2492 3259 13747 17376) NA 0 63 78 73 NA NA 1 NA 154942529 2201 4300 6501 SO:0001819 synonymous_variant U73377 CCDS1076.1, CCDS30881.1, CCDS44233.1, CCDS44234.1 1q21 2013-02-14 2002-01-14 ENSG00000160691 ENSG00000160691 6464 SH2 domain containing 10840 protein-coding gene gene with protein product 600560 SHC (Src homology 2 domain-containing) transforming protein 1 SHC NA 1623525 Standard NM_183001 NM_003029 NA Approved p66 uc001ffw.3 P29353 OTTHUMG00000037295 ENST00000448116.2:c.474C>T chr1.hg19:g.154942529G>A NA B5BU19|D3DV78|O15290|Q5T180|Q5T183|Q5T184|Q5T185|Q5T186|Q8N4K5|Q96CL1 hg19 CCDS44233.1 0.02 11.318781 CCCxGGT COVERED NOVEL SHC1-002 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000090779.2 6 67.044396 KEEP 0 0 0 223 7599 GG 1 1 0 - 14 60 525 0 0 35.140893 262 60 9262 656 ENST00000448116.2 0.050725 1 DCST2 127579 __UNKNOWN__ __UNKNOWN__ 1 155006091 155006091 __UNKNOWN__ Silent SNP A A G rs10908453 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:155006091A>G ENST00000368424.3 - 1 145 c.87T>C c.(85-87)ggT>ggC p.G29G DCST2_ENST00000295536.5_Silent_p.G29G NM_144622.2 NP_653223.2 Q5T1A1 DCST2_HUMAN DC-STAMP domain containing 2 29 NA integral component of membrane (GO:0016021) breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1) 38 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) CCAGGGTAAAACCTCCCACGC 0.612 NA G||| 2999 0.598842 0.5416 0.6052 5008 , , NA 18636 0.881 NA 0.3608 False NA ,,, NA NA NA 2504 0.6258 NA NA NA NA 0 G 2342,2064 566.5+/-381.9 611,1120,472 74 71 72 87 1.6 0 1 dbSNP_120 72 2997,5603 662.2+/-401.9 521,1955,1824 no coding-synonymous DCST2 NM_144622.2 1132,3075,2296 GG,GA,AA 34.8488,46.8452,41.0503 29/774 155006091 5339,7667 2203 4300 6503 SO:0001819 synonymous_variant AK057496 CCDS1082.2 1q22 2008-02-05 2005-08-09 ENSG00000163354 ENSG00000163354 127579 26562 protein-coding gene gene with protein product NA Standard NM_144622 NM_144622 NA Approved FLJ32934 uc001fgm.3 Q5T1A1 OTTHUMG00000037371 ENST00000368424.3:c.87T>C chr1.hg19:g.155006091A>G NA Q2M2R2|Q8N810|Q96M03 hg19 CCDS1082.2 0.02 19.523095 AAAxCCT COVERED NOVEL DCST2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000090953.3 4 7.1607 KEEP 0 4 147 75 2365 AA 1 1 0 - 28 60 1062 0 0 75.267234 380 60 12829 583 ENST00000368424.3 0.068627 1 DCST1 149095 __UNKNOWN__ __UNKNOWN__ 1 155006999 155006999 __UNKNOWN__ Silent SNP C C T rs6680600 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:155006999C>T ENST00000295542.1 + 3 246 c.150C>T c.(148-150)ctC>ctT p.L50L DCST1_ENST00000392480.1_Silent_p.L50L|DCST1_ENST00000368419.2_Silent_p.L50L|DCST1_ENST00000423025.2_Silent_p.L50L NM_152494.3 NP_689707.2 Q5T197 DCST1_HUMAN DC-STAMP domain containing 1 50 NA integral component of membrane (GO:0016021) zinc ion binding (GO:0008270) breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 27 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) TCACTGCTCTCCTGCTGGGGG 0.652 NA C||| 2833 0.565695 0.4266 0.5922 5008 , , NA 16607 0.8819 NA 0.3579 False NA ,,, NA NA NA 2504 0.6227 NA NA NA NA 0 C , 1897,2509 533.7+/-373.8 383,1131,689 64 76 72 150,150 4.3 1 1 dbSNP_116 72 2962,5638 451.6+/-362.7 512,1938,1850 no coding-synonymous,coding-synonymous DCST1 NM_001143687.2,NM_152494.3 , 895,3069,2539 TT,TC,CC 34.4419,43.0549,37.3597 , 50/682,50/707 155006999 4859,8147 2203 4300 6503 SO:0001819 synonymous_variant AK057347 CCDS1083.1, CCDS44235.1 1q22 2008-02-05 ENSG00000163357 ENSG00000163357 149095 26539 protein-coding gene gene with protein product NA Standard NM_152494 NM_152494 NA Approved FLJ32785 uc001fgn.2 Q5T197 OTTHUMG00000041314 ENST00000295542.1:c.150C>T chr1.hg19:g.155006999C>T NA B4DXA0|E9PHV3|Q5T198|Q6P1W6|Q71S70|Q96M70 hg19 CCDS1083.1 0.02 8.373153 TCTxCTG COVERED NOVEL DCST1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000099006.1 2 4.088105 KEEP 0 4 114 54 1879 CC 1 1 0 + 17 60 608 0 0 42.356528 220 60 8140 349 ENST00000295542.1 0.07173 1 DCST1 149095 __UNKNOWN__ __UNKNOWN__ 1 155019710 155019710 __UNKNOWN__ Missense_Mutation SNP A A C rs11264300 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:155019710A>C ENST00000295542.1 + 14 1630 c.1534A>C c.(1534-1536)Atg>Ctg p.M512L DCST1_ENST00000392480.1_Missense_Mutation_p.M512L|DCST1_ENST00000368419.2_Missense_Mutation_p.M512L|DCST1_ENST00000423025.2_Missense_Mutation_p.M487L NM_152494.3 NP_689707.2 Q5T197 DCST1_HUMAN DC-STAMP domain containing 1 512 NA M -> L (in dbSNP:rs11264300). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}. integral component of membrane (GO:0016021) zinc ion binding (GO:0008270) breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 27 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) GGGAGACTCCATGCTAGCCCG 0.532 NA A||| 2777 0.554513 0.3858 0.5865 5008 , , NA 18637 0.8849 NA 0.3569 False NA ,,, NA NA NA 2504 0.6227 NA NA NA NA 0 A LEU/MET,LEU/MET 1798,2608 527.6+/-372.2 350,1098,755 88 86 87 1459,1534 3.7 1 1 dbSNP_120 87 2984,5616 462.0+/-365.6 524,1936,1840 yes missense,missense DCST1 NM_001143687.2,NM_152494.3 15,15 874,3034,2595 CC,CA,AA 34.6977,40.808,36.7676 benign,benign 487/682,512/707 155019710 4782,8224 2203 4300 6503 SO:0001583 missense AK057347 CCDS1083.1, CCDS44235.1 1q22 2008-02-05 ENSG00000163357 ENSG00000163357 149095 26539 protein-coding gene gene with protein product NA Standard NM_152494 NM_152494 NA Approved FLJ32785 uc001fgn.2 Q5T197 OTTHUMG00000041314 ENST00000295542.1:c.1534A>C chr1.hg19:g.155019710A>C ENSP00000295542:p.Met512Leu NA B4DXA0|E9PHV3|Q5T198|Q6P1W6|Q71S70|Q96M70 hg19 CCDS1083.1 0.02 4.789051 TCCxTGC COVERED 1163 0.5325091575091575 179 0.3638211382113821 193 0.5331491712707183 517 0.9038461538461539 274 0.36147757255936674 A 11.83 1.756878 0.31137 0.40808 0.346977 ENSG00000163357 ENST00000295542;ENST00000392480;ENST00000423025;ENST00000368419 T;T;T;T 0.28255 1.62;1.62;1.62;1.62 4.88 3.73 0.42828 Dendritic cell-specific transmembrane protein-like (1); 0.190127 0.51477 N 0.000086 T 0.06416 0.0165 L 0.31420 0.93 0.36215 P 0.148416 B;B 0.16166 0.016;0.016 B;B 0.18561 0.022;0.022 T 0.24048 -1.0171 9 0.06494 T 0.89 -31.4022 8.753 0.34629 0.8085:0.1915:0.0:0.0 rs11264300;rs52800761;rs60521342;rs11264300 487;512 E9PHV3;Q5T197 .;DCST1_HUMAN L 512;512;487;512 ENSP00000295542:M512L;ENSP00000376271:M512L;ENSP00000387369:M487L;ENSP00000357404:M512L ENSP00000295542:M512L M + 1 0 DCST1 153286334 1.000000 0.71417 1.000000 0.80357 0.492000 0.33523 3.293000 0.51779 0.960000 0.38005 0.533000 0.62120 ATG NOVEL DCST1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000099006.1 1 16.249582 KEEP 0 0 0 54 1701 AA 1 0.999968 0 + 6 60 226 0 0 15.581515 95 60 3473 191 ENST00000295542.1 0.059406 0.999968 EFNA3 1944 __UNKNOWN__ __UNKNOWN__ 1 155036379 155036379 __UNKNOWN__ Missense_Mutation SNP G G T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:155036379G>T ENST00000505139.1 + 1 156 c.80G>T c.(79-81)cGc>cTc p.R27L EFNA4_ENST00000427683.2_Missense_Mutation_p.R27L|EFNA4_ENST00000359751.4_Missense_Mutation_p.R27L|EFNA4_ENST00000368409.3_Missense_Mutation_p.R27L|EFNA3_ENST00000556931.1_Missense_Mutation_p.R27L P52797 EFNA3_HUMAN ephrin-A3 32 NA axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013) anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) ephrin receptor binding (GO:0046875)|transmembrane-ephrin receptor activity (GO:0005005) breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2) 5 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) all cancers(21;5.67e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000284)|LUSC - Lung squamous cell carcinoma(543;0.193) TCCAGCCTCCGCCACGTAGTC 0.726 NA NA NA NA NA NA NA NA NA NA NA 0 7 9 8 NA NA 1 NA 155036379 2139 4201 6340 SO:0001583 missense BC017722 CCDS1090.1 1q21-q22 2011-03-09 ENSG00000143590 ENSG00000143590 1944 Ephrins 3223 protein-coding gene gene with protein product 601381 EPLG3 NA 8660976 Standard NM_004952 NM_004952 NA Approved LERK3, Ehk1-L uc001fhf.3 P52797 OTTHUMG00000035313 ENST00000505139.1:c.80G>T chr1.hg19:g.155036379G>T ENSP00000426741:p.Arg27Leu NA B7ZAD3|D3DV85|Q0VGC9|Q5SR70 hg19 0.02 3.248987 TCCxCCA COVERED . . . . . . . . . . G 26.7 4.764581 0.89932 . . ENSG00000243364;ENSG00000243364;ENSG00000243364;ENSG00000143590;ENSG00000251246 ENST00000368409;ENST00000359751;ENST00000427683;ENST00000556931;ENST00000505139 D;D;D;D;D 0.93547 -3.24;-3.24;-3.24;-3.24;-3.24 5.55 4.63 0.57726 Cupredoxin (2); 0.000000 0.64402 D 0.000011 D 0.95335 0.8486 M 0.84683 2.71 0.80722 D 1 D;P;D;D 0.76494 0.965;0.859;0.999;0.999 P;B;P;D 0.64687 0.711;0.289;0.893;0.928 D 0.93907 0.7193 10 0.35671 T 0.21 -2.7221 11.4233 0.49996 0.0871:0.0:0.9129:0.0 . 27;27;27;27 B4DXG7;P52798-2;P52798;G3XAK2 .;.;EFNA4_HUMAN;. L 27 ENSP00000357394:R27L;ENSP00000352789:R27L;ENSP00000414378:R27L;ENSP00000450814:R27L;ENSP00000426741:R27L ENSP00000352789:R27L R + 2 0 RP11-540D14.8;EFNA3;EFNA4 153303003 1.000000 0.71417 1.000000 0.80357 0.644000 0.38419 2.652000 0.46682 2.615000 0.88500 0.561000 0.74099 CGC NOVEL EFNA3-001 PUTATIVE basic|appris_principal|readthrough_transcript|exp_conf protein_coding NA protein_coding OTTHUMT00000363903.1 0 16.364813 KEEP 0 8 113 97 2694 GG 1 1 0 + 16 60 243 0 0 9.626214 175 60 4613 353 ENST00000505139.1 0.08377 1 FAM189B 10712 __UNKNOWN__ __UNKNOWN__ 1 155221353 155221353 __UNKNOWN__ Missense_Mutation SNP C C G rs145906888 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:155221353C>G ENST00000368368.3 - 6 870 c.780G>C c.(778-780)ttG>ttC p.L260F FAM189B_ENST00000472550.1_5'UTR|FAM189B_ENST00000361361.2_Missense_Mutation_p.L278F|FAM189B_ENST00000350210.2_Missense_Mutation_p.L182F NM_001267608.1 NP_001254537.1 P81408 F189B_HUMAN family with sequence similarity 189, member B 278 NA integral component of membrane (GO:0016021) WW domain binding (GO:0050699) breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 23 CGGTAGGGTACAAGGGCACTG 0.582 NA C||| 18 0.00359425 0.0 0.0 5008 , , NA 16804 0.0179 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 C PHE/LEU,PHE/LEU 2,4404 4.2+/-10.8 0,2,2201 75 69 71 834,546 2.8 1 1 dbSNP_134 71 0,8600 0,0,4300 yes missense,missense FAM189B NM_006589.2,NM_198264.1 22,22 0,2,6501 GG,GC,CC 0.0,0.0454,0.0154 probably-damaging,probably-damaging 278/669,182/573 155221353 2,13004 2203 4300 6503 SO:0001583 missense AF070550 CCDS1103.1, CCDS1104.1, CCDS58035.1 1q21 2009-07-09 2009-07-09 2009-07-09 ENSG00000160767 ENSG00000160767 10712 1233 protein-coding gene gene with protein product chromosome 1 open reading frame 2 C1orf2 NA 9331372 Standard NM_006589 NM_006589 NA Approved cote1 uc001fjm.3 P81408 OTTHUMG00000035844 ENST00000368368.3:c.780G>C chr1.hg19:g.155221353C>G ENSP00000357352:p.Leu260Phe NA B1AVS5|Q8IXL3|Q9BR66 hg19 CCDS58035.1 0.02 2.006839 GTAxAAG COVERED 6 0.0027472527472527475 0 0.0 0 0.0 5 0.008741258741258742 1 0.0013192612137203166 C 17.37 3.372281 0.61624 4.54E-4 0.0 ENSG00000160767 ENST00000350210;ENST00000333966;ENST00000368368;ENST00000361361;ENST00000491082 T;T;T;T 0.37411 1.23;1.94;1.93;1.2 4.78 2.83 0.33086 . 0.000000 0.56097 D 0.000027 T 0.20659 0.0497 L 0.27053 0.805 0.32379 N 0.554847 D;D;D;D 0.89917 1.0;0.998;0.997;0.995 D;D;D;D 0.85130 0.997;0.986;0.986;0.979 T 0.03268 -1.1054 10 0.10902 T 0.67 . 6.2264 0.20710 0.0:0.7101:0.1891:0.1008 . 7;260;182;278 B1AVS2;B1AVS5;P81408-2;P81408 .;.;.;F189B_HUMAN F 182;182;260;278;182 ENSP00000307128:L182F;ENSP00000357352:L260F;ENSP00000354958:L278F;ENSP00000427011:L182F ENSP00000333944:L182F L - 3 2 FAM189B 153487977 1.000000 0.71417 1.000000 0.80357 0.989000 0.77384 0.600000 0.24104 0.684000 0.31448 0.655000 0.94253 TTG NOVEL FAM189B-004 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000087227.1 0 11.135568 KEEP 0 0 0 37 1275 CC 1 0.999804 0 - 5 60 176 0 0 11.629009 84 60 3020 164 ENST00000368368.3 0.05618 0.999804 YY1AP1 55249 __UNKNOWN__ __UNKNOWN__ 1 155630752 155630752 __UNKNOWN__ Intron SNP A A G rs3738590 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:155630752A>G ENST00000359205.5 - 10 1222 YY1AP1_ENST00000311573.5_Intron|YY1AP1_ENST00000405763.3_3'UTR|YY1AP1_ENST00000355499.4_Intron|YY1AP1_ENST00000295566.4_Intron|YY1AP1_ENST00000407221.1_Intron|YY1AP1_ENST00000347088.5_Intron|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000535662.1_Intron|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000368340.5_Intron|YY1AP1_ENST00000404643.1_Intron|YY1AP1_ENST00000368330.2_Intron|YY1AP1_ENST00000368339.5_Intron|YY1AP1_ENST00000361831.5_Intron NM_001198900.1 NP_001185829.1 Q9H869 YYAP1_HUMAN YY1 associated protein 1 NA NA regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2) 31 Hepatocellular(266;0.0997)|all_hematologic(923;0.145) AGAATTTGGGAAAAAGAATAG 0.453 NA A||| 1695 0.338458 0.1581 0.3026 5008 , , NA 18832 0.6806 NA 0.2744 False NA ,,, NA NA NA 2504 0.3211 NA NA NA NA 0 A ,,,,,,,,,,, 679,3727 88,503,1612 36 35 36 ,,,,,,,,,,, -0.7 0 1 dbSNP_107 36 2061,6539 314,1433,2553 no intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron YY1AP1 NM_001198899.1,NM_001198900.1,NM_001198901.1,NM_001198902.1,NM_001198903.1,NM_001198904.1,NM_001198905.1,NM_001198906.1,NM_018253.3,NM_139118.2,NM_139119.2,NM_139121.2 ,,,,,,,,,,, 402,1936,4165 GG,GA,AA 23.9651,15.4108,21.0672 ,,,,,,,,,,, ,,,,,,,,,,, 155630752 2740,10266 2203 4300 6503 SO:0001627 intron_variant BC008766 CCDS1115.1, CCDS1116.1, CCDS55643.1, CCDS55644.1, CCDS55645.1 1q22 2009-05-07 ENSG00000163374 ENSG00000163374 55249 30935 protein-coding gene gene with protein product 607860 NA 11710830 Standard NM_139118 NM_139119 NA Approved YY1AP, HCCA2, YAP Q9H869 OTTHUMG00000035437 ENST00000359205.5:c.964-48T>C chr1.hg19:g.155630752A>G NA B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84 hg19 0.02 28.403337 GGGxAAA COVERED NOVEL YY1AP1-027 PUTATIVE alternative_5_UTR|basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000086021.2 5 33.700738 KEEP 0 0 0 112 3585 AA 1 1 0 - 16 60 604 0 0 35.290399 649 60 23277 951 ENST00000359205.5 0.02406 1 DAP3 7818 __UNKNOWN__ __UNKNOWN__ 1 155658940 155658940 __UNKNOWN__ 5'UTR SNP T T G rs4824 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:155658940T>G ENST00000368336.5 + 0 92 DAP3_ENST00000535183.1_5'UTR|DAP3_ENST00000465375.1_5'UTR|MSTO1_ENST00000452804.2_Intron|MSTO1_ENST00000538143.1_Intron|DAP3_ENST00000343043.3_5'UTR|DAP3_ENST00000421487.2_5'UTR|DAP3_ENST00000471642.2_5'UTR|DAP3_ENST00000496863.1_3'UTR NM_001199849.1|NM_004632.3 NP_001186778.1|NP_004623.1 P51398 RT29_HUMAN death associated protein 3 NA NA apoptotic mitochondrial changes (GO:0008637)|apoptotic signaling pathway (GO:0097190) mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small ribosomal subunit (GO:0015935) poly(A) RNA binding (GO:0044822) breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 24 Hepatocellular(266;0.0997)|all_hematologic(923;0.145) GGTCGCCTAGTCTGGAGAACT 0.627 NA .||| 1651 0.329673 0.1626 0.2896 5008 , , NA 15946 0.6825 NA 0.2425 False NA ,,, NA NA NA 2504 0.3098 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant X83544 CCDS1120.1, CCDS55646.1, CCDS55647.1 1q22 2012-11-14 ENSG00000132676 ENSG00000132676 7818 Mitochondrial ribosomal proteins / small subunits 2673 protein-coding gene gene with protein product mitochondrial 28S ribosomal protein S29 602074 NA 7499268, 9284927 Standard NM_004632 NM_004632 NA Approved MRPS29, DAP-3, MRP-S29, bMRP-10, MGC126058, MGC126059, DKFZp686G12159 uc001flr.3 P51398 OTTHUMG00000035439 ENST00000368336.5:c.-33T>G chr1.hg19:g.155658940T>G NA B4DP59|B4DY62|E7EM60|Q13044|Q68CT7|Q96Q20 hg19 CCDS1120.1 0.02 -0.420329 TAGxCTG COVERED NOVEL DAP3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000086042.1 1 4.794474 KEEP 0 0 0 16 485 TT 0.997832 0.946346 0 + 5 60 128 0 0 8.363521 43 60 1504 70 ENST00000368336.5 0.104167 0.948402 RIT1 6016 __UNKNOWN__ __UNKNOWN__ 1 155868625 155868625 __UNKNOWN__ 3'UTR SNP G G A rs2282301 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:155868625G>A ENST00000368323.3 - 0 2418 NM_006912.5 NP_008843.1 Q92963 RIT1_HUMAN Ras-like without CAAX 1 NA NA GTP catabolic process (GO:0006184)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264) plasma membrane (GO:0005886) calmodulin binding (GO:0005516)|GTP binding (GO:0005525) breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1) 19 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;1.79e-05) ACTACTCAGAGCTAAAAAAGT 0.313 NA G||| 1901 0.379593 0.2958 0.3084 5008 , , NA 12987 0.7589 NA 0.2346 False NA ,,, NA NA NA 2504 0.3016 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF084462 CCDS1123.1, CCDS58037.1, CCDS58036.1 1q21.2 2014-05-09 2002-09-11 2002-09-13 ENSG00000143622 ENSG00000143622 6016 10023 protein-coding gene gene with protein product Ric-like, expressed in many tissues, GTP-binding protein Roc1 609591 Ric (Drosophila)-like, expressed in many tissues RIT NA 8824319, 8918462 Standard NM_006912 NM_006912 NA Approved RIBB, ROC1, MGC125864, MGC125865 uc031pqc.1 Q92963 OTTHUMG00000014104 ENST00000368323.3:c.*1554C>T chr1.hg19:g.155868625G>A NA B4DQE8|O00646|O00720|Q5VY89|Q5VY90 hg19 CCDS1123.1 0.02 9.071194 AGAxCTA COVERED NOVEL RIT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000039593.1 1 20.166042 KEEP 0 0 0 67 2427 GG 1 1 0 - 9 60 336 0 0 21.28264 228 60 8682 371 ENST00000368323.3 0.037975 1 UBQLN4 56893 __UNKNOWN__ __UNKNOWN__ 1 156006013 156006013 __UNKNOWN__ 3'UTR SNP T T C rs3820592 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:156006013T>C ENST00000368309.3 - 0 2654 NM_020131.3 NP_064516.2 Q9NRR5 UBQL4_HUMAN ubiquilin 4 NA NA regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434) centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634) identical protein binding (GO:0042802)|polyubiquitin binding (GO:0031593) NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2) 16 Hepatocellular(266;0.133)|all_neural(408;0.195) CTCCCCACTGTTAATTCCAAC 0.468 NA T||| 1855 0.370407 0.18 0.3415 5008 , , NA 19452 0.8323 NA 0.2535 False NA ,,, NA NA NA 2504 0.2924 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC018403 CCDS1127.1 1q21 2013-02-12 2004-11-05 2004-11-06 ENSG00000160803 ENSG00000160803 56893 Ubiquilin family 1237 protein-coding gene gene with protein product ataxin-1 ubiquitin-like interacting protein 605440 chromosome 1 open reading frame 6 C1orf6 NA 10575211, 11001934 Standard NM_020131 NM_020131 NA Approved A1U, UBIN uc001fna.3 Q9NRR5 OTTHUMG00000017461 ENST00000368309.3:c.*756A>G chr1.hg19:g.156006013T>C NA A6ND44|B2RAY7|Q5VYA0|Q5VYA1|Q9BR98|Q9UHX4 hg19 CCDS1127.1 0.02 33.833732 CTGxTAA COVERED NOVEL UBQLN4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000046193.1 3 23.165846 KEEP 0 0 0 77 2415 TT 1 1 0 - 20 60 738 0 0 43.684339 742 60 26455 1008 ENST00000368309.3 0.026247 1 SMG5 23381 __UNKNOWN__ __UNKNOWN__ 1 156222714 156222714 __UNKNOWN__ Silent SNP C C T rs183569543 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:156222714C>T ENST00000361813.5 - 18 2802 c.2658G>A c.(2656-2658)agG>agA p.R886R SMG5_ENST00000368267.5_Intron NM_015327.2 NP_056142.2 Q9UPR3 SMG5_HUMAN SMG5 nonsense mediated mRNA decay factor 886 PINc. NA gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634) protein phosphatase 2A binding (GO:0051721) NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 48 Hepatocellular(266;0.158) ACTTACCTGTCCTTGGGATGA 0.522 NA C||| 24 0.00479233 0.0 0.0 5008 , , NA 19567 0.0228 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 61 52 55 NA NA 1 NA 156222714 2203 4300 6503 SO:0001819 synonymous_variant AB029012 CCDS1137.1 1q21 2013-07-02 2013-07-02 ENSG00000198952 ENSG00000198952 23381 24644 protein-coding gene gene with protein product EST1 telomerase component homolog B (S. cerevisiae) 610962 smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans) NA 12676087, 12699629 Standard NM_015327 NM_015327 NA Approved KIAA1089, LPTS-RP1, LPTSRP1, RP11-54H19.7, SMG-5, EST1B uc001foc.4 Q9UPR3 OTTHUMG00000017491 ENST00000361813.5:c.2658G>A chr1.hg19:g.156222714C>T NA D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7 hg19 CCDS1137.1 0.02 6.452588 TGTxCTT COVERED 6 0.0027472527472527475 0 0.0 0 0.0 6 0.01048951048951049 0 0.0 C 10.02 1.236254 0.22626 . . ENSG00000198952 ENST00000420555 . . . 5.83 5.83 0.93111 . . . . . T 0.49558 0.1564 . . . 0.80722 D 1 . . . . . . T 0.52177 -0.8610 4 . . . -20.0595 8.5964 0.33718 0.0:0.7657:0.1547:0.0796 . . . . N 8 . . D - 1 0 SMG5 154489338 0.725000 0.28048 1.000000 0.80357 0.934000 0.57294 -0.304000 0.08199 2.763000 0.94921 0.561000 0.74099 GAC NOVEL SMG5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000046308.1 1 19.262083 KEEP 0 0 0 64 2240 CC 1 1 0 - 8 60 297 0 0 19.024653 187 60 6997 330 ENST00000361813.5 0.041026 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 156275471 156275471 __UNKNOWN__ IGR SNP A A C rs2842862 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:156275471A>C NA NA VHLL (6043 upstream) : CCT3 (3287 downstream) NA NA NA tcacgcctgtaatcccagcac 0.478 NA A||| 1178 0.235224 0.1944 0.1758 5008 , , NA 14627 0.2609 NA 0.2992 False NA ,,, NA NA NA 2504 0.2403 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.156275471A>C NA hg19 0.02 -0.061413 TGTxATC UNCOVERED NOVEL 0 0 3.008786 KEEP 0 0 0 10 300 AA 0.992708 0.043467 0 2 60 77 0 0 6.835517 5 60 181 22 0.285714 0.043787 CCT3 7203 __UNKNOWN__ __UNKNOWN__ 1 156287360 156287360 __UNKNOWN__ Intron SNP C C T rs2249790 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:156287360C>T ENST00000295688.3 - 9 1040 CCT3_ENST00000368261.3_Intron|CCT3_ENST00000368259.2_Intron|CCT3_ENST00000472765.2_Intron NM_005998.4 NP_005989.3 P49368 TCPG_HUMAN chaperonin containing TCP1, subunit 3 (gamma) NA NA 'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457) cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|zona pellucida receptor complex (GO:0002199) ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082) endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 22 Hepatocellular(266;0.158) AGAAAAGACACTGATTTTAAA 0.453 NA C||| 1178 0.235224 0.1936 0.1758 5008 , , NA 18806 0.2619 NA 0.2992 False NA ,,, NA NA NA 2504 0.2403 NA NA NA NA 0 C , 990,3416 369.8+/-319.3 113,764,1326 127 130 129 , -1.2 0 1 dbSNP_100 129 2294,6306 386.5+/-341.9 295,1704,2301 no intron,intron CCT3 NM_001008800.2,NM_005998.4 , 408,2468,3627 TT,TC,CC 26.6744,22.4694,25.2499 , , 156287360 3284,9722 2203 4300 6503 SO:0001627 intron_variant BC008019 CCDS1140.2, CCDS30888.1 1q23 2011-09-02 ENSG00000163468 ENSG00000163468 7203 Heat Shock Proteins / Chaperonins 1616 protein-coding gene gene with protein product 600114 TRIC5 NA 8110840 Standard NM_005998 NM_005998 NA Approved Cctg uc001fol.2 P49368 OTTHUMG00000024061 ENST00000295688.3:c.760-22G>A chr1.hg19:g.156287360C>T NA A6NE14|Q5SZY1|Q9BR64 hg19 CCDS1140.2 0.02 1.807166 ACAxTGA COVERED NOVEL CCT3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000060602.3 1 8.72859 KEEP 0 0 0 29 1041 CC 0.999997 0.999801 0 - 4 60 145 0 0 9.324348 85 60 3225 150 ENST00000295688.3 0.044944 0.999804 CCT3 7203 __UNKNOWN__ __UNKNOWN__ 1 156303527 156303527 __UNKNOWN__ Intron SNP C C T rs2764402 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:156303527C>T ENST00000295688.3 - 5 488 CCT3_ENST00000368261.3_Intron|CCT3_ENST00000368256.3_Intron|CCT3_ENST00000368259.2_Intron|CCT3_ENST00000472765.2_Intron NM_005998.4 NP_005989.3 P49368 TCPG_HUMAN chaperonin containing TCP1, subunit 3 (gamma) NA NA 'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457) cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|zona pellucida receptor complex (GO:0002199) ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082) endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 22 Hepatocellular(266;0.158) TGCTTCTATACGTACTTACTT 0.358 NA C||| 926 0.184904 0.0416 0.1455 5008 , , NA 19876 0.256 NA 0.2773 False NA ,,, NA NA NA 2504 0.2382 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC008019 CCDS1140.2, CCDS30888.1 1q23 2011-09-02 ENSG00000163468 ENSG00000163468 7203 Heat Shock Proteins / Chaperonins 1616 protein-coding gene gene with protein product 600114 TRIC5 NA 8110840 Standard NM_005998 NM_005998 NA Approved Cctg uc001fol.2 P49368 OTTHUMG00000024061 ENST00000295688.3:c.208-93G>A chr1.hg19:g.156303527C>T NA A6NE14|Q5SZY1|Q9BR64 hg19 CCDS1140.2 0.02 4.065262 ATAxGTA COVERED NOVEL CCT3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000060602.3 0 5.115483 KEEP 0 0 0 17 548 CC 0.999366 0.999366 0 - 9 60 319 0 0 21.75114 129 60 4161 162 ENST00000295688.3 0.065217 1 MEF2D 4209 __UNKNOWN__ __UNKNOWN__ 1 156434703 156434703 __UNKNOWN__ 3'UTR SNP G G T rs1050316 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:156434703G>T ENST00000348159.4 - 0 4780 MEF2D_ENST00000368240.2_3'UTR|MEF2D_ENST00000464356.2_3'UTR|MEF2D_ENST00000340875.5_3'UTR|MEF2D_ENST00000353795.3_3'UTR NM_005920.2 NP_005911.1 Q14814 MEF2D_HUMAN myocyte enhancer factor 2D NA NA adult heart development (GO:0007512)|apoptotic process (GO:0006915)|chondrocyte differentiation (GO:0002062)|endochondral ossification (GO:0001958)|muscle organ development (GO:0007517)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366) intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634) activating transcription factor binding (GO:0033613)|histone deacetylase binding (GO:0042826)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700) endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 15 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CAGACTAATGGTGGGAATAGC 0.488 NA G||| 2866 0.572284 0.2375 0.5937 5008 , , NA 19449 0.7619 NA 0.671 False NA ,,, NA NA NA 2504 0.7127 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC054520 CCDS1143.1, CCDS60304.1 1q12-q23 2008-02-05 2007-04-24 ENSG00000116604 ENSG00000116604 4209 Myocyte enhancer factors 6997 protein-coding gene gene with protein product 600663 NA 8269842 Standard NM_005920 NM_005920 NA Approved uc001fpb.4 Q14814 OTTHUMG00000033095 ENST00000348159.4:c.*2734C>A chr1.hg19:g.156434703G>T NA D3DVC0|Q14815|Q5T9U5|Q5T9U6 hg19 CCDS1143.1 0.02 7.967948 ATGxTGG COVERED NOVEL MEF2D-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000080562.2 1 12.275426 KEEP 0 1 32 52 1865 GG 1 1 0 - 9 60 320 0 0 20.074225 206 60 7590 324 ENST00000348159.4 0.04186 1 MEF2D 4209 __UNKNOWN__ __UNKNOWN__ 1 156446242 156446242 __UNKNOWN__ Intron SNP C C A rs2274316 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:156446242C>A ENST00000348159.4 - 8 1357 MEF2D_ENST00000368240.2_Intron|MEF2D_ENST00000464356.2_Intron|MEF2D_ENST00000340875.5_Intron|MEF2D_ENST00000353795.3_Intron|MEF2D_ENST00000360595.3_Intron NM_005920.2 NP_005911.1 Q14814 MEF2D_HUMAN myocyte enhancer factor 2D NA NA adult heart development (GO:0007512)|apoptotic process (GO:0006915)|chondrocyte differentiation (GO:0002062)|endochondral ossification (GO:0001958)|muscle organ development (GO:0007517)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366) intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634) activating transcription factor binding (GO:0033613)|histone deacetylase binding (GO:0042826)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700) endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 15 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CAGAGCAATACCCAGAATTCA 0.507 NA C||| 2860 0.571086 0.236 0.5937 5008 , , NA 22138 0.756 NA 0.671 False NA ,,, NA NA NA 2504 0.7147 NA NA NA NA 0 C 1386,3020 445.1+/-347.6 237,912,1054 145 115 125 1.3 0 1 dbSNP_100 125 5641,2959 650.0+/-400.7 1841,1959,500 no intron MEF2D NM_005920.2 2078,2871,1554 AA,AC,CC 34.407,31.4571,45.9711 156446242 7027,5979 2203 4300 6503 SO:0001627 intron_variant BC054520 CCDS1143.1, CCDS60304.1 1q12-q23 2008-02-05 2007-04-24 ENSG00000116604 ENSG00000116604 4209 Myocyte enhancer factors 6997 protein-coding gene gene with protein product 600663 NA 8269842 Standard NM_005920 NM_005920 NA Approved uc001fpb.4 Q14814 OTTHUMG00000033095 ENST00000348159.4:c.876+43G>T chr1.hg19:g.156446242C>A NA D3DVC0|Q14815|Q5T9U5|Q5T9U6 hg19 CCDS1143.1 0.02 4.278872 ATAxCCA COVERED NOVEL MEF2D-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000080562.2 0 22.508488 KEEP 0 1 32 86 3060 CC 1 0.999999 0 - 8 60 289 0 0 19.809519 117 60 4402 277 ENST00000348159.4 0.064 0.999999 MEF2D 4209 __UNKNOWN__ __UNKNOWN__ 1 156446903 156446903 __UNKNOWN__ Silent SNP T T C rs2274317 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:156446903T>C ENST00000348159.4 - 7 1236 c.756A>G c.(754-756)ccA>ccG p.P252P MEF2D_ENST00000368240.2_Silent_p.P252P|MEF2D_ENST00000464356.2_Silent_p.P251P|MEF2D_ENST00000340875.5_Silent_p.P251P|MEF2D_ENST00000353795.3_Silent_p.P206P|MEF2D_ENST00000360595.3_Silent_p.P252P NM_005920.2 NP_005911.1 Q14814 MEF2D_HUMAN myocyte enhancer factor 2D 252 Poly-Pro. NA adult heart development (GO:0007512)|apoptotic process (GO:0006915)|chondrocyte differentiation (GO:0002062)|endochondral ossification (GO:0001958)|muscle organ development (GO:0007517)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366) intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634) activating transcription factor binding (GO:0033613)|histone deacetylase binding (GO:0042826)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700) endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 15 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TAGGTGGGGGTGGAGACTTGG 0.612 NA T||| 2863 0.571685 0.2368 0.5951 5008 , , NA 16626 0.756 NA 0.672 False NA ,,, NA NA NA 2504 0.7147 NA NA NA NA 0 T 1389,3017 458.6+/-352.0 238,913,1052 82 75 77 756 -8 0.9 1 dbSNP_100 77 5651,2949 668.0+/-402.5 1850,1951,499 no coding-synonymous MEF2D NM_005920.2 2088,2864,1551 CC,CT,TT 34.2907,31.5252,45.8711 252/522 156446903 7040,5966 2203 4300 6503 SO:0001819 synonymous_variant BC054520 CCDS1143.1, CCDS60304.1 1q12-q23 2008-02-05 2007-04-24 ENSG00000116604 ENSG00000116604 4209 Myocyte enhancer factors 6997 protein-coding gene gene with protein product 600663 NA 8269842 Standard NM_005920 NM_005920 NA Approved uc001fpb.4 Q14814 OTTHUMG00000033095 ENST00000348159.4:c.756A>G chr1.hg19:g.156446903T>C NA D3DVC0|Q14815|Q5T9U5|Q5T9U6 hg19 CCDS1143.1 0.02 6.403647 GGGxGGA COVERED NOVEL MEF2D-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000080562.2 0 18.223783 KEEP 0 0 0 61 1759 TT 1 1 0 - 15 60 516 0 0 37.887904 130 60 3736 294 ENST00000348159.4 0.103448 1 MEF2D 4209 __UNKNOWN__ __UNKNOWN__ 1 156453247 156453247 __UNKNOWN__ Intron SNP T T A rs2274320 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:156453247T>A ENST00000348159.4 - 2 343 MEF2D_ENST00000368240.2_Intron|MEF2D_ENST00000340875.5_Intron|MEF2D_ENST00000353795.3_Intron|MEF2D_ENST00000360595.3_Intron NM_005920.2 NP_005911.1 Q14814 MEF2D_HUMAN myocyte enhancer factor 2D NA NA adult heart development (GO:0007512)|apoptotic process (GO:0006915)|chondrocyte differentiation (GO:0002062)|endochondral ossification (GO:0001958)|muscle organ development (GO:0007517)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366) intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634) activating transcription factor binding (GO:0033613)|histone deacetylase binding (GO:0042826)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700) endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 15 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TCATGAGAGGTCTCTGAGCCC 0.597 NA A||| 2865 0.572085 0.236 0.5951 5008 , , NA 18836 0.756 NA 0.673 False NA ,,, NA NA NA 2504 0.7168 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC054520 CCDS1143.1, CCDS60304.1 1q12-q23 2008-02-05 2007-04-24 ENSG00000116604 ENSG00000116604 4209 Myocyte enhancer factors 6997 protein-coding gene gene with protein product 600663 NA 8269842 Standard NM_005920 NM_005920 NA Approved uc001fpb.4 Q14814 OTTHUMG00000033095 ENST00000348159.4:c.138-25A>T chr1.hg19:g.156453247T>A NA D3DVC0|Q14815|Q5T9U5|Q5T9U6 hg19 CCDS1143.1 0.02 2.068723 AGGxCTC COVERED NOVEL MEF2D-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000080562.2 0 5.048421 KEEP 0 1 26 26 822 TT 0.999988 0.999395 0 - 4 60 145 0 0 9.492113 77 60 2648 136 ENST00000348159.4 0.049383 0.999407 IQGAP3 128239 __UNKNOWN__ __UNKNOWN__ 1 156498673 156498673 __UNKNOWN__ Intron SNP T T A rs1171564 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:156498673T>A ENST00000361170.2 - 35 4582 NM_178229.4 NP_839943.2 Q86VI3 IQGA3_HUMAN IQ motif containing GTPase activating protein 3 NA NA activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361) cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328) Ras GTPase activator activity (GO:0005099) NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3) 75 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GAGAAGTCACTCGTAACCTTC 0.577 NA A||| 3004 0.59984 0.8472 0.4366 5008 , , NA 20621 0.5933 NA 0.3191 False NA ,,, NA NA NA 2504 0.6769 NA NA NA NA 0 A 3225,1181 415.4+/-337.2 1177,871,155 65 65 65 -2.3 0 1 dbSNP_87 65 2721,5879 681.2+/-403.7 453,1815,2032 no intron IQGAP3 NM_178229.4 1630,2686,2187 AA,AT,TT 31.6395,26.8044,45.7174 156498673 5946,7060 2203 4300 6503 SO:0001627 intron_variant AY253300 CCDS1144.1 1q21.3 2008-02-05 ENSG00000183856 ENSG00000183856 128239 20669 protein-coding gene gene with protein product NA Standard NM_178229 NM_178229 NA Approved uc001fpf.3 Q86VI3 OTTHUMG00000033114 ENST00000361170.2:c.4571+34A>T chr1.hg19:g.156498673T>A NA Q5T3H8 hg19 CCDS1144.1 0.02 10.487422 CACxCGT COVERED NOVEL IQGAP3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000080657.1 0 9.026544 KEEP 0 0 0 30 935 TT 0.999997 0.999997 0 - 9 60 334 0 0 20.268884 282 60 10387 371 ENST00000361170.2 0.030928 1 IQGAP3 128239 __UNKNOWN__ __UNKNOWN__ 1 156539320 156539320 __UNKNOWN__ Intron SNP C C T rs34005985|rs369609003 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:156539320C>T ENST00000361170.2 - 2 48 NM_178229.4 NP_839943.2 Q86VI3 IQGA3_HUMAN IQ motif containing GTPase activating protein 3 NA NA activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361) cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328) Ras GTPase activator activity (GO:0005099) NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3) 75 all_hematologic(923;0.088)|Hepatocellular(266;0.158) ACTGAAGGGtctttttttttt 0.488 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY253300 CCDS1144.1 1q21.3 2008-02-05 ENSG00000183856 ENSG00000183856 128239 20669 protein-coding gene gene with protein product NA Standard NM_178229 NM_178229 NA Approved uc001fpf.3 Q86VI3 OTTHUMG00000033114 ENST00000361170.2:c.38-65G>A chr1.hg19:g.156539320C>T NA Q5T3H8 hg19 CCDS1144.1 0.02 -0.184134 GGTxTTT COVERED NOVEL IQGAP3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000080657.1 1 3.546356 KEEP 0 1 17 18 577 CC 0.99986 0.423418 0 - 4 60 129 1 2 10.463017 16 60 546 68 ENST00000361170.2 0.2 0.423478 NES 10763 __UNKNOWN__ __UNKNOWN__ 1 156639753 156639753 __UNKNOWN__ Silent SNP G G A rs11582300 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:156639753G>A ENST00000368223.3 - 4 4359 c.4227C>T c.(4225-4227)tcC>tcT p.S1409S NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 1409 Tail. NA brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089) cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111) intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198) central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CAAACCCATCGGACTCCCCAT 0.647 NA G||| 3097 0.618411 0.385 0.6787 5008 , , NA 15954 0.8611 NA 0.6312 False NA ,,, NA NA NA 2504 0.6278 NA NA NA NA 0 G 1758,2648 355,1048,800 22 24 23 4227 0.8 1 1 dbSNP_120 23 5323,3269 1696,1931,669 no coding-synonymous NES NM_006617.1 2051,2979,1469 AA,AG,GG 38.047,39.9001,45.5224 1409/1622 156639753 7081,5917 2203 4296 6499 SO:0001819 synonymous_variant X65964 CCDS1151.1 1q23 2013-01-16 ENSG00000132688 ENSG00000132688 10763 Intermediate filaments type IV 7756 protein-coding gene gene with protein product 600915 NA 1478958, 9104587 Standard NM_006617 NM_006617 NA Approved FLJ21841 uc001fpq.3 P48681 OTTHUMG00000034299 ENST00000368223.3:c.4227C>T chr1.hg19:g.156639753G>A NA O00552|Q3LIF5|Q5SYZ6 hg19 CCDS1151.1 0.02 17.677897 ATCxGAC COVERED NOVEL NES-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000082844.2 5 22.447197 KEEP 0 3 92 107 3547 GG 1 1 0 - 27 60 994 0 0 68.642498 398 60 13613 683 ENST00000368223.3 0.063529 1 NES 10763 __UNKNOWN__ __UNKNOWN__ 1 156640156 156640156 __UNKNOWN__ Missense_Mutation SNP G G A rs3748570 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:156640156G>A ENST00000368223.3 - 4 3956 c.3824C>T c.(3823-3825)cCc>cTc p.P1275L NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 1275 Tail. NA P -> L (in dbSNP:rs3748570). {ECO:0000269|PubMed:1478958, ECO:0000269|PubMed:18669648, ECO:0000269|PubMed:21406692}. brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089) cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111) intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198) central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TTCCTCCTGGGGGCCCTCGGG 0.652 NA A||| 3628 0.724441 0.711 0.7104 5008 , , NA 18440 0.87 NA 0.6551 False NA ,,, NA NA NA 2504 0.6738 NA NA NA NA 0 A LEU/PRO 3055,1351 450.2+/-349.3 1044,967,192 74 87 83 3824 4.9 1 1 dbSNP_107 83 5527,3073 469.3+/-367.5 1817,1893,590 yes missense NES NM_006617.1 98 2861,2860,782 AA,AG,GG 35.7326,30.6627,34.0151 benign 1275/1622 156640156 8582,4424 2203 4300 6503 SO:0001583 missense X65964 CCDS1151.1 1q23 2013-01-16 ENSG00000132688 ENSG00000132688 10763 Intermediate filaments type IV 7756 protein-coding gene gene with protein product 600915 NA 1478958, 9104587 Standard NM_006617 NM_006617 NA Approved FLJ21841 uc001fpq.3 P48681 OTTHUMG00000034299 ENST00000368223.3:c.3824C>T chr1.hg19:g.156640156G>A ENSP00000357206:p.Pro1275Leu NA O00552|Q3LIF5|Q5SYZ6 hg19 CCDS1151.1 0.02 21.98394 TGGxGGC COVERED 1594 0.7298534798534798 349 0.709349593495935 256 0.7071823204419889 495 0.8653846153846154 494 0.6517150395778364 A 0.026 -1.373560 0.01214 0.693373 0.642674 ENSG00000132688 ENST00000368223 D 0.83250 -1.7 4.95 4.95 0.65309 . 0.000000 0.29348 N 0.012416 T 0.18130 0.0435 N 0.00142 -2.005 0.49051 P 2.60000000000038E-4 B 0.02656 0.0 B 0.01281 0.0 T 0.20405 -1.0276 9 0.02654 T 1 . 4.6302 0.12498 0.7404:0.0:0.0923:0.1673 rs3748570;rs58877600;rs3748570 1275 P48681 NEST_HUMAN L 1275 ENSP00000357206:P1275L ENSP00000357206:P1275L P - 2 0 NES 154906780 0.964000 0.33143 0.999000 0.59377 0.334000 0.28698 0.911000 0.28584 0.732000 0.32470 -0.381000 0.06696 CCC NOVEL NES-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000082844.2 4 35.515146 KEEP 0 0 0 118 4156 GG 1 1 0 - 38 60 1384 0 0 96.667839 508 60 18312 844 ENST00000368223.3 0.069597 1 NES 10763 __UNKNOWN__ __UNKNOWN__ 1 156640678 156640678 __UNKNOWN__ Missense_Mutation SNP G G A rs2886443 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:156640678G>A ENST00000368223.3 - 4 3434 c.3302C>T c.(3301-3303)cCg>cTg p.P1101L NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 1101 Tail. NA P -> L (in dbSNP:rs2886443). {ECO:0000269|PubMed:1478958}. brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089) cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111) intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198) central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CCCCTGCCCCGGGCCTGGCTC 0.647 NA G||| 3116 0.622204 0.3858 0.67 5008 , , NA 11968 0.8621 NA 0.6481 False NA ,,, NA NA NA 2504 0.6339 NA NA NA NA 0 G LEU/PRO 1788,2592 377,1034,779 18 22 21 3302 -4.2 0 1 dbSNP_101 21 5445,3117 1815,1815,651 yes missense NES NM_006617.1 98 2192,2849,1430 AA,AG,GG 36.405,40.8219,44.1122 probably-damaging 1101/1622 156640678 7233,5709 2190 4281 6471 SO:0001583 missense X65964 CCDS1151.1 1q23 2013-01-16 ENSG00000132688 ENSG00000132688 10763 Intermediate filaments type IV 7756 protein-coding gene gene with protein product 600915 NA 1478958, 9104587 Standard NM_006617 NM_006617 NA Approved FLJ21841 uc001fpq.3 P48681 OTTHUMG00000034299 ENST00000368223.3:c.3302C>T chr1.hg19:g.156640678G>A ENSP00000357206:p.Pro1101Leu NA O00552|Q3LIF5|Q5SYZ6 hg19 CCDS1151.1 0.02 4.748755 CCCxGGC COVERED 1421 0.6506410256410257 199 0.40447154471544716 242 0.6685082872928176 489 0.8548951048951049 491 0.6477572559366754 G 6.686 0.495244 0.12762 0.408219 0.63595 ENSG00000132688 ENST00000368223 D 0.84873 -1.91 4.16 -4.17 0.03857 . 1.304050 0.05885 N 0.627213 T 0.55305 0.1912 L 0.56769 1.78 0.80722 P 0.0 B 0.06786 0.001 B 0.01281 0.0 T 0.32903 -0.9889 9 0.07030 T 0.85 . 4.0525 0.09801 0.2772:0.0:0.3442:0.3786 rs2886443;rs3748572;rs57956552;rs2886443 1101 P48681 NEST_HUMAN L 1101 ENSP00000357206:P1101L ENSP00000357206:P1101L P - 2 0 NES 154907302 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -3.984000 0.00320 -0.966000 0.03587 -1.141000 0.01876 CCG NOVEL NES-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000082844.2 2 7.757729 KEEP 0 1 32 37 1227 GG 1 0.999998 0 - 9 60 350 0 0 25.517572 108 60 3816 185 ENST00000368223.3 0.076923 0.999998 CRABP2 1382 __UNKNOWN__ __UNKNOWN__ 1 156670654 156670654 __UNKNOWN__ Intron SNP T T C rs11264528 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:156670654T>C ENST00000368222.3 - 2 404 CRABP2_ENST00000368221.1_Intron NM_001199723.1|NM_001878.3 NP_001186652.1|NP_001869.1 P29373 RABP2_HUMAN cellular retinoic acid binding protein 2 NA NA epidermis development (GO:0008544)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|transporter activity (GO:0005215) endometrium(2)|lung(3)|upper_aerodigestive_tract(1) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) Alitretinoin(DB00523)|Tretinoin(DB00755) TGGAGCCCCTTCTGGCACTCA 0.547 NA C||| 451 0.0900559 0.0651 0.0821 5008 , , NA 18213 0.1806 NA 0.004 False NA ,,, NA NA NA 2504 0.1247 NA NA NA NA 0 C , 291,4115 799.8+/-415.5 9,273,1921 100 88 92 , 2.3 0 1 dbSNP_120 92 36,8564 817.4+/-406.9 0,36,4264 no intron,intron CRABP2 NM_001199723.1,NM_001878.3 , 9,309,6185 CC,CT,TT 0.4186,6.6046,2.5142 , , 156670654 327,12679 2203 4300 6503 SO:0001627 intron_variant BC001109 CCDS1152.1 1q21.3 2013-03-01 2001-11-28 ENSG00000143320 ENSG00000143320 1382 Fatty acid binding protein family 2339 protein-coding gene gene with protein product 180231 cellular retinoic acid-binding protein 2 NA 1654334 Standard NM_001878 NM_001878 NA Approved CRABP-II uc001fpr.3 P29373 OTTHUMG00000041300 ENST00000368222.3:c.249+11A>G chr1.hg19:g.156670654T>C NA B2R4Z8|D3DVC5|F1T098|Q6ICN6 hg19 CCDS1152.1 0.02 11.576289 CCTxCTG COVERED NOVEL CRABP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000098966.1 0 17.150795 KEEP 0 0 0 57 1773 TT 1 1 0 - 10 60 346 0 0 21.521872 248 60 8921 409 ENST00000368222.3 0.03876 1 ISG20L2 81875 __UNKNOWN__ __UNKNOWN__ 1 156697056 156697056 __UNKNOWN__ Missense_Mutation SNP T T C rs3795737 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:156697056T>C ENST00000313146.6 - 1 1171 c.389A>G c.(388-390)aAt>aGt p.N130S ISG20L2_ENST00000368219.1_Missense_Mutation_p.N130S NM_030980.1 NP_112242.1 Q9H9L3 I20L2_HUMAN interferon stimulated exonuclease gene 20kDa-like 2 130 NA N -> S (in dbSNP:rs3795737). ribosome biogenesis (GO:0042254) nucleus (GO:0005634) exonuclease activity (GO:0004527)|poly(A) RNA binding (GO:0044822) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 16 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TGGGTGGCTATTGATCTTTGG 0.498 NA OREG0013885 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) T||| 828 0.165335 0.2201 0.2824 5008 , , NA 17577 0.1687 NA 0.0577 False NA ,,, NA NA NA 2504 0.1155 NA NA NA NA 0 T SER/ASN 766,3640 308.6+/-290.6 70,626,1507 92 97 95 389 0.7 0.1 1 dbSNP_107 95 506,8094 143.7+/-199.7 16,474,3810 yes missense ISG20L2 NM_030980.1 46 86,1100,5317 CC,CT,TT 5.8837,17.3854,9.7801 benign 130/354 156697056 1272,11734 2203 4300 6503 SO:0001583 missense AK095697 CCDS1153.1 1q23.1 2013-10-11 ENSG00000143319 ENSG00000143319 81875 25745 protein-coding gene gene with protein product 611930 NA 18065403 Standard NM_030980 NM_030980 NA Approved FLJ12671 uc001fps.1 Q9H9L3 OTTHUMG00000041301 ENST00000313146.6:c.389A>G chr1.hg19:g.156697056T>C ENSP00000323424:p.Asn130Ser 1780 D3DVC6|Q64KA2 hg19 CCDS1153.1 0.02 6.409061 CTAxTGA COVERED 351 0.16071428571428573 124 0.25203252032520324 87 0.24033149171270718 99 0.17307692307692307 41 0.05408970976253298 T 0.015 -1.555116 0.00918 0.173854 0.058837 ENSG00000143319 ENST00000313146;ENST00000368219 T;T 0.21734 1.99;1.99 4.31 0.673 0.17941 . 3.951200 0.01206 N 0.007706 T 0.02688 0.0081 N 0.08118 0 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.28073 -1.0055 9 0.10636 T 0.68 -4.0536 6.6611 0.23014 0.0:0.276:0.0:0.724 rs3795737;rs56513381;rs59810365;rs3795737 130 Q9H9L3 I20L2_HUMAN S 130 ENSP00000323424:N130S;ENSP00000357202:N130S ENSP00000323424:N130S N - 2 0 ISG20L2 154963680 0.011000 0.17503 0.062000 0.19696 0.005000 0.04900 0.383000 0.20651 0.094000 0.17404 -1.140000 0.01884 AAT NOVEL ISG20L2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000098969.1 0 42.726208 KEEP 0 0 0 142 4431 TT 1 1 0 - 9 60 339 0 0 22.279532 190 60 6794 439 ENST00000313146.6 0.045226 1 INSRR 3645 __UNKNOWN__ __UNKNOWN__ 1 156814411 156814411 __UNKNOWN__ Silent SNP G G A rs551253424 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:156814411G>A ENST00000368195.3 - 14 2976 c.2580C>T c.(2578-2580)gcC>gcT p.A860A NTRK1_ENST00000392302.2_Intron NM_014215.2 NP_055030.1 P14616 INSRR_HUMAN insulin receptor-related receptor 860 Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}. NA actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235) ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 42 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) ACAGCACTGTGGCCTCCTGAG 0.622 NA G||| 1 0.000199681 0.0 0.0 5008 , , NA 16911 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 44 44 44 NA NA 1 NA 156814411 2203 4300 6503 SO:0001819 synonymous_variant J05046 CCDS1160.1 1q21-q23 2013-02-11 ENSG00000027644 ENSG00000027644 3645 Fibronectin type III domain containing 6093 protein-coding gene gene with protein product 147671 NA 2768234, 2249481 Standard NM_014215 NM_014215 NA Approved IRR uc010pht.2 P14616 OTTHUMG00000041291 ENST00000368195.3:c.2580C>T chr1.hg19:g.156814411G>A NA O60724|Q5VZS3 hg19 CCDS1160.1 0.02 7.271442 TGTxGCC COVERED NOVEL INSRR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000098929.1 1 7.823722 KEEP 0 0 0 26 910 GG 0.999957 0.999957 0 - 11 60 388 0 0 26.448699 159 60 5875 229 ENST00000368195.3 0.064706 1 INSRR 3645 __UNKNOWN__ __UNKNOWN__ 1 156814478 156814478 __UNKNOWN__ Intron SNP G G A rs41267423 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:156814478G>A ENST00000368195.3 - 13 2971 NTRK1_ENST00000392302.2_Intron NM_014215.2 NP_055030.1 P14616 INSRR_HUMAN insulin receptor-related receptor NA NA actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235) ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 42 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GGGCTGGGACGGGGGTCCCAC 0.607 NA G||| 775 0.154752 0.1505 0.1585 5008 , , NA 15842 0.1657 NA 0.1581 False NA ,,, NA NA NA 2504 0.1431 NA NA NA NA 0 G , 669,3737 282.5+/-276.6 51,567,1585 53 56 55 , -0.5 0 1 dbSNP_127 55 1349,7251 263.7+/-285.1 115,1119,3066 no intron,intron INSRR,NTRK1 NM_001007792.1,NM_014215.2 , 166,1686,4651 AA,AG,GG 15.686,15.1838,15.5159 , , 156814478 2018,10988 2203 4300 6503 SO:0001627 intron_variant J05046 CCDS1160.1 1q21-q23 2013-02-11 ENSG00000027644 ENSG00000027644 3645 Fibronectin type III domain containing 6093 protein-coding gene gene with protein product 147671 NA 2768234, 2249481 Standard NM_014215 NM_014215 NA Approved IRR uc010pht.2 P14616 OTTHUMG00000041291 ENST00000368195.3:c.2574+20C>T chr1.hg19:g.156814478G>A NA O60724|Q5VZS3 hg19 CCDS1160.1 0.02 8.466335 GACxGGG COVERED NOVEL INSRR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000098929.1 0 8.727174 KEEP 0 0 0 29 958 GG 0.999997 0.999997 0 - 11 60 384 0 0 24.864848 202 60 6943 290 ENST00000368195.3 0.051643 1 NTRK1 4914 __UNKNOWN__ __UNKNOWN__ 1 156849780 156849780 __UNKNOWN__ Intron SNP G G A rs79173278 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:156849780G>A ENST00000524377.1 + 16 2087 NTRK1_ENST00000368196.3_Intron|NTRK1_ENST00000392302.2_Intron|NTRK1_ENST00000358660.3_Intron NM_002529.3 NP_002520.2 P04629 NTRK1_HUMAN neurotrophic tyrosine kinase, receptor, type 1 NA NA activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235) ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714) breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896) TGCAGTGTCCGCCCGTGGCAG 0.607 NA T TPM3, TPR, TFG papillary thyroid TSP Lung(10;0.080) G||| 149 0.0297524 0.0 0.0375 5008 , , NA 15890 0.12 NA 0.0 False NA ,,, NA NA NA 2504 0.002 NA NA NA Dom yes 1 1q21-q22 4914 neurotrophic tyrosine kinase, receptor, type 1 E 0 G ,, 2,4404 0,2,2201 37 40 39 ,, -1.2 0 1 dbSNP_132 39 1,8593 0,1,4296 no intron,intron,intron NTRK1 NM_001007792.1,NM_001012331.1,NM_002529.3 ,, 0,3,6497 AA,AG,GG 0.0116,0.0454,0.0231 ,, ,, 156849780 3,12997 2203 4297 6500 SO:0001627 intron_variant Y09028 CCDS1161.1, CCDS30890.1, CCDS30891.1 1q21-q22 2014-09-17 ENSG00000198400 ENSG00000198400 4914 2.7.10.1 Immunoglobulin superfamily / Immunoglobulin-like domain containing 8031 protein-coding gene gene with protein product high affinity nerve growth factor receptor 191315 NA 2869410 Standard NM_002529 NM_001007792 NA Approved TRK, TRKA, MTC uc001fqh.1 P04629 OTTHUMG00000041304 ENST00000524377.1:c.2047-11G>A chr1.hg19:g.156849780G>A NA B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7 hg19 CCDS1161.1 0.02 4.320855 TCCxCCC COVERED NOVEL NTRK1-007 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000392279.1 1 10.231779 KEEP 0 0 0 34 1120 GG 0.999998 0.999998 0 + 14 60 505 0 0 37.283926 129 60 4358 212 ENST00000524377.1 0.097902 1 PEAR1 375033 __UNKNOWN__ __UNKNOWN__ 1 156874993 156874993 __UNKNOWN__ Intron SNP C C T rs12048392 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:156874993C>T ENST00000338302.3 + 5 431 PEAR1_ENST00000292357.7_Intron Q5VY43 PEAR1_HUMAN platelet endothelial aggregation receptor 1 NA NA recognition of apoptotic cell (GO:0043654) integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891) breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1) 43 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) acAGGGAATGCGCTTTCTATG 0.577 NA C||| 805 0.160743 0.0439 0.1484 5008 , , NA 17785 0.3859 NA 0.0398 False NA ,,, NA NA NA 2504 0.2198 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK098809 CCDS30892.1 1q23.1 2008-02-05 2007-10-25 2007-10-25 ENSG00000187800 ENSG00000187800 375033 33631 protein-coding gene gene with protein product 610278 multiple EGF-like-domains 12 MEGF12 NA 15851471 Standard NM_001080471 NM_001080471 NA Approved JEDI, FLJ00193 uc001fqj.1 Q5VY43 OTTHUMG00000041293 ENST00000338302.3:c.207-123C>T chr1.hg19:g.156874993C>T NA Q8TEK2 hg19 CCDS30892.1 0.02 -0.350811 ATGxGCT COVERED NOVEL PEAR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000098937.2 0 2.708311 KEEP 0 0 0 9 289 CC 0.99254 0.87116 0 + 4 60 152 0 0 11.462621 36 60 1240 52 ENST00000338302.3 0.1 0.877708 PEAR1 375033 __UNKNOWN__ __UNKNOWN__ 1 156883493 156883493 __UNKNOWN__ Missense_Mutation SNP G G A rs11264581 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:156883493G>A ENST00000338302.3 + 22 2879 c.2654G>A c.(2653-2655)cGc>cAc p.R885H PEAR1_ENST00000292357.7_Missense_Mutation_p.R885H Q5VY43 PEAR1_HUMAN platelet endothelial aggregation receptor 1 885 Pro-rich. NA R -> H (in dbSNP:rs11264581). recognition of apoptotic cell (GO:0043654) integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891) breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1) 43 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GGGAGCAGCCGCCTGGACCGA 0.612 NA G||| 1161 0.231829 0.0469 0.2954 5008 , , NA 16121 0.4732 NA 0.1759 False NA ,,, NA NA NA 2504 0.2454 NA NA NA NA 0 G HIS/ARG 293,4113 159.6+/-192.1 7,279,1917 37 38 38 2654 -3.7 0.7 1 dbSNP_120 38 1577,7023 291.1+/-300.1 149,1279,2872 yes missense PEAR1 NM_001080471.1 29 156,1558,4789 AA,AG,GG 18.3372,6.65,14.378 benign 885/1038 156883493 1870,11136 2203 4300 6503 SO:0001583 missense AK098809 CCDS30892.1 1q23.1 2008-02-05 2007-10-25 2007-10-25 ENSG00000187800 ENSG00000187800 375033 33631 protein-coding gene gene with protein product 610278 multiple EGF-like-domains 12 MEGF12 NA 15851471 Standard NM_001080471 NM_001080471 NA Approved JEDI, FLJ00193 uc001fqj.1 Q5VY43 OTTHUMG00000041293 ENST00000338302.3:c.2654G>A chr1.hg19:g.156883493G>A ENSP00000344465:p.Arg885His NA Q8TEK2 hg19 CCDS30892.1 0.02 4.388865 GCCxCCT COVERED 488 0.22344322344322345 26 0.052845528455284556 79 0.21823204419889503 251 0.4388111888111888 132 0.1741424802110818 G 13.25 2.182510 0.38511 0.0665 0.183372 ENSG00000187800 ENST00000338302;ENST00000292357 D;D 0.88975 -2.45;-2.45 5.78 -3.72 0.04411 . 0.543959 0.15501 N 0.259052 T 0.45975 0.1369 N 0.03608 -0.345 0.80722 P 0.0 B 0.11235 0.004 B 0.04013 0.001 T 0.28396 -1.0045 9 0.15066 T 0.55 . 5.0929 0.14718 0.2315:0.0:0.3078:0.4608 rs11264581;rs59112747;rs11264581 885 Q5VY43 PEAR1_HUMAN H 885 ENSP00000344465:R885H;ENSP00000292357:R885H ENSP00000292357:R885H R + 2 0 PEAR1 155150117 0.000000 0.05858 0.737000 0.30932 0.740000 0.42216 -0.451000 0.06795 -0.439000 0.07222 0.563000 0.77884 CGC NOVEL PEAR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000098937.2 0 6.018286 KEEP 0 0 0 20 679 GG 0.999863 0.999862 0 + 12 60 444 0 0 33.013433 112 60 3563 166 ENST00000338302.3 0.096774 0.999999 ARHGEF11 9826 __UNKNOWN__ __UNKNOWN__ 1 156907115 156907115 __UNKNOWN__ Missense_Mutation SNP T T C rs868188 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:156907115T>C ENST00000368194.3 - 39 5405 c.4366A>G c.(4366-4368)Agc>Ggc p.S1456G ARHGEF11_ENST00000361409.2_Missense_Mutation_p.S1416G|ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000315174.8_Missense_Mutation_p.S832G NM_198236.2 NP_937879.1 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 1416 NA actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032) cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020) G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2) 81 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) AGGGCCAGGCTTGGAGGAGAG 0.627 NA T||| 2036 0.40655 0.2284 0.5014 5008 , , NA 18795 0.5169 NA 0.3569 False NA ,,, NA NA NA 2504 0.5174 NA NA NA NA 0 GRCh37 CM061640 ARHGEF11 M rs868188 T GLY/SER,GLY/SER 987,3419 366.4+/-317.8 106,775,1322 64 62 63 4246,4366 0.5 0.1 1 dbSNP_86 63 3067,5533 465.4+/-366.5 557,1953,1790 yes missense,missense ARHGEF11 NM_014784.2,NM_198236.1 56,56 663,2728,3112 CC,CT,TT 35.6628,22.4013,31.1702 probably-damaging,probably-damaging 1416/1523,1456/1563 156907115 4054,8952 2203 4300 6503 SO:0001583 missense AB002378 CCDS1162.1, CCDS1163.1 1q21 2011-11-16 ENSG00000132694 ENSG00000132694 9826 Rho guanine nucleotide exchange factors 14580 protein-coding gene gene with protein product 605708 NA 10526156, 9205841 Standard NM_198236 NM_014784 NA Approved KIAA0380, GTRAP48, PDZ-RHOGEF uc001fqn.3 O15085 OTTHUMG00000041292 ENST00000368194.3:c.4366A>G chr1.hg19:g.156907115T>C ENSP00000357177:p.Ser1456Gly NA D3DVD0|Q5VY40|Q6PFW2 hg19 CCDS1163.1 0.02 7.517894 GGCxTGG COVERED 805 0.3685897435897436 109 0.22154471544715448 149 0.4116022099447514 272 0.4755244755244755 275 0.3627968337730871 T 6.223 0.409363 0.11812 0.224013 0.356628 ENSG00000132694 ENST00000368194;ENST00000361409;ENST00000315174 T;T;T 0.68624 -0.34;-0.33;-0.23 4.15 0.503 0.16940 . 0.558310 0.17430 N 0.174513 T 0.31136 0.0787 L 0.29908 0.895 0.37737 P 0.07450400000000001 B;B;B 0.10296 0.003;0.0;0.003 B;B;B 0.13407 0.009;0.001;0.008 T 0.05007 -1.0912 9 0.59425 D 0.04 -4.126 7.6539 0.28365 0.0:0.2703:0.0:0.7297 rs868188 832;1416;1456 F8W8P9;O15085;O15085-2 .;ARHGB_HUMAN;. G 1456;1416;832 ENSP00000357177:S1456G;ENSP00000354644:S1416G;ENSP00000313470:S832G ENSP00000313470:S832G S - 1 0 ARHGEF11 155173739 0.657000 0.27393 0.107000 0.21349 0.140000 0.21249 1.112000 0.31172 -0.078000 0.12730 -0.379000 0.06801 AGC NOVEL ARHGEF11-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000098930.1 0 10.532868 KEEP 0 0 0 35 1134 TT 0.999999 0.999999 0 - 13 60 497 0 0 35.763974 163 60 6075 261 ENST00000368194.3 0.073864 1 ARHGEF11 9826 __UNKNOWN__ __UNKNOWN__ 1 156918444 156918444 __UNKNOWN__ Intron SNP A A G rs117511268 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:156918444A>G ENST00000368194.3 - 23 2965 ARHGEF11_ENST00000361409.2_Intron|ARHGEF11_ENST00000315174.8_5'UTR NM_198236.2 NP_937879.1 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 NA NA actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032) cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020) G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2) 81 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) TGGCAGTGGAAGCTTCTCAAT 0.512 NA OREG0013893 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) A||| 59 0.0117812 0.0 0.0 5008 , , NA 21655 0.0565 NA 0.0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB002378 CCDS1162.1, CCDS1163.1 1q21 2011-11-16 ENSG00000132694 ENSG00000132694 9826 Rho guanine nucleotide exchange factors 14580 protein-coding gene gene with protein product 605708 NA 10526156, 9205841 Standard NM_198236 NM_014784 NA Approved KIAA0380, GTRAP48, PDZ-RHOGEF uc001fqn.3 O15085 OTTHUMG00000041292 ENST00000368194.3:c.1926-154T>C chr1.hg19:g.156918444A>G 1782 D3DVD0|Q5VY40|Q6PFW2 hg19 CCDS1163.1 0.02 4.314133 GGAxGCT COVERED NOVEL ARHGEF11-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000098930.1 1 5.717136 KEEP 0 0 0 19 605 AA 0.99986 0.999858 0 - 6 60 215 0 0 13.999414 115 60 4346 164 ENST00000368194.3 0.049587 0.999999 ARHGEF11 9826 __UNKNOWN__ __UNKNOWN__ 1 156954267 156954267 __UNKNOWN__ Intron SNP C C T rs6427339 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:156954267C>T ENST00000368194.3 - 3 1164 ARHGEF11_ENST00000361409.2_Intron NM_198236.2 NP_937879.1 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 NA NA actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032) cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020) G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2) 81 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CGCAGTGTCACTGGGAGGTTA 0.493 NA T||| 2964 0.591853 0.7027 0.5375 5008 , , NA 20445 0.7798 NA 0.3926 False NA ,,, NA NA NA 2504 0.4918 NA NA NA NA 0 T , 2953,1445 988,977,234 62 39 47 , -3.7 0 1 dbSNP_116 47 3374,5208 700,1974,1617 no intron,intron ARHGEF11 NM_014784.2,NM_198236.1 , 1688,2951,1851 TT,TC,CC 39.3148,32.8558,48.7442 , , 156954267 6327,6653 2199 4291 6490 SO:0001627 intron_variant AB002378 CCDS1162.1, CCDS1163.1 1q21 2011-11-16 ENSG00000132694 ENSG00000132694 9826 Rho guanine nucleotide exchange factors 14580 protein-coding gene gene with protein product 605708 NA 10526156, 9205841 Standard NM_198236 NM_014784 NA Approved KIAA0380, GTRAP48, PDZ-RHOGEF uc001fqn.3 O15085 OTTHUMG00000041292 ENST00000368194.3:c.125-38G>A chr1.hg19:g.156954267C>T NA D3DVD0|Q5VY40|Q6PFW2 hg19 CCDS1163.1 0.02 -0.421108 TCAxTGG COVERED NOVEL ARHGEF11-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000098930.1 0 4.213641 KEEP 0 0 0 14 507 CC 0.995343 0.943985 0 - 4 60 141 0 0 10.030696 44 60 1661 81 ENST00000368194.3 0.083333 0.948402 ARHGEF11 9826 __UNKNOWN__ __UNKNOWN__ 1 157014877 157014877 __UNKNOWN__ 5'UTR SNP A A T rs3806421 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:157014877A>T ENST00000368194.3 - 0 285 NM_198236.2 NP_937879.1 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 NA NA actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032) cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020) G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2) 81 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CACCaaaaaaaaaaataaaat 0.274 NA a||| 1175 0.234625 0.0416 0.3127 5008 , , NA 15962 0.4504 NA 0.1968 False NA ,,, NA NA NA 2504 0.2566 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AB002378 CCDS1162.1, CCDS1163.1 1q21 2011-11-16 ENSG00000132694 ENSG00000132694 9826 Rho guanine nucleotide exchange factors 14580 protein-coding gene gene with protein product 605708 NA 10526156, 9205841 Standard NM_198236 NM_014784 NA Approved KIAA0380, GTRAP48, PDZ-RHOGEF uc001fqn.3 O15085 OTTHUMG00000041292 ENST00000368194.3:c.-755T>A chr1.hg19:g.157014877A>T NA D3DVD0|Q5VY40|Q6PFW2 hg19 CCDS1163.1 0.02 2.035282 AAAxAAA COVERED NOVEL ARHGEF11-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000098930.1 1 11.434613 KEEP 0 0 0 38 1212 AA 1 0.992094 0 - 6 60 222 2 0 16.459476 57 60 2019 115 ENST00000368194.3 0.095238 0.992094 ARHGEF11 9826 __UNKNOWN__ __UNKNOWN__ 1 157015026 157015026 __UNKNOWN__ 5'UTR SNP C C A rs3806422 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:157015026C>A ENST00000368194.3 - 0 136 NM_198236.2 NP_937879.1 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 NA NA actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032) cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020) G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2) 81 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CCTACCCCAGCCTGATTCTCA 0.423 NA C||| 1172 0.234026 0.0393 0.3127 5008 , , NA 14658 0.4504 NA 0.1968 False NA ,,, NA NA NA 2504 0.2566 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AB002378 CCDS1162.1, CCDS1163.1 1q21 2011-11-16 ENSG00000132694 ENSG00000132694 9826 Rho guanine nucleotide exchange factors 14580 protein-coding gene gene with protein product 605708 NA 10526156, 9205841 Standard NM_198236 NM_014784 NA Approved KIAA0380, GTRAP48, PDZ-RHOGEF uc001fqn.3 O15085 OTTHUMG00000041292 ENST00000368194.3:c.-904G>T chr1.hg19:g.157015026C>A NA D3DVD0|Q5VY40|Q6PFW2 hg19 CCDS1163.1 0.02 6.492955 CAGxCTG COVERED NOVEL ARHGEF11-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000098930.1 3 24.37914 KEEP 0 0 0 81 2877 CC 1 1 0 - 16 60 583 0 0 42.5305 163 60 6034 323 ENST00000368194.3 0.089385 1 ETV3 2117 __UNKNOWN__ __UNKNOWN__ 1 157095470 157095470 __UNKNOWN__ Silent SNP A A G rs2231856 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:157095470A>G ENST00000368192.4 - 5 766 c.702T>C c.(700-702)ttT>ttC p.F234F NM_001145312.1 NP_001138784.1 P41162 ETV3_HUMAN ets variant 3 234 NA cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366) nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053) sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981) breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2) 9 Hepatocellular(266;0.158) Prostate(1639;0.174) CTGGCCTAGCAAACAGAGGAA 0.587 NA A||| 1212 0.242013 0.0129 0.2882 5008 , , NA 20596 0.5565 NA 0.1123 False NA ,,, NA NA NA 2504 0.3282 NA NA NA NA 0 A 38,1346 1,36,655 100 97 98 702 4.1 0.9 1 dbSNP_98 98 302,2880 12,278,1301 no coding-synonymous ETV3 NM_001145312.1 13,314,1956 GG,GA,AA 9.4909,2.7457,7.4463 234/513 157095470 340,4226 692 1591 2283 SO:0001819 synonymous_variant BC022868 CCDS1164.1, CCDS44250.1 1q21-q23 2008-09-12 2008-09-12 ENSG00000117036 ENSG00000117036 2117 3492 protein-coding gene gene with protein product 164873 ets variant gene 3, ETS family transcriptional repressor, ets variant gene 3 NA 8020980 Standard NM_005240 NM_005240 NA Approved PE-1 uc001fqr.2 P41162 OTTHUMG00000034298 ENST00000368192.4:c.702T>C chr1.hg19:g.157095470A>G NA B4E3M7|Q8TAC8|Q9BX30 hg19 CCDS44250.1 0.02 29.799708 AGCxAAC COVERED NOVEL ETV3-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000082843.2 2 15.448503 KEEP 0 3 99 86 2637 AA 1 1 0 - 37 60 1329 1 0 88.588938 628 60 22969 941 ENST00000368192.4 0.055639 1 FCRL4 83417 __UNKNOWN__ __UNKNOWN__ 1 157543762 157543762 __UNKNOWN__ 3'UTR SNP C C T rs2758679 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:157543762C>T ENST00000271532.1 - 0 3235 NM_031282.2 NP_112572.1 Q96PJ5 FCRL4_HUMAN Fc receptor-like 4 NA NA immune system process (GO:0002376) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 40 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.245) ttttggtcgacatgtctcgtc 0.289 NA T||| 4181 0.834864 0.8722 0.8818 5008 , , NA 16585 0.8631 NA 0.7714 False NA ,,, NA NA NA 2504 0.7873 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF343661 CCDS1166.1 1q21 2013-01-14 ENSG00000163518 ENSG00000163518 83417 CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 18507 protein-coding gene gene with protein product 605876 NA 11290337, 11493702 Standard NM_031282 NM_031282 NA Approved FCRH4, IRTA1, IGFP2, CD307d uc001fqw.3 Q96PJ5 OTTHUMG00000035488 ENST00000271532.1:c.*1552G>A chr1.hg19:g.157543762C>T NA Q96PJ3|Q96RE0 hg19 CCDS1166.1 0.02 10.337007 CGAxATG COVERED NOVEL FCRL4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000086180.1 1 10.231794 KEEP 0 0 0 34 1210 CC 0.999998 0.999998 0 - 11 60 403 0 0 25.516663 263 60 10078 379 ENST00000271532.1 0.040146 1 FCRL4 83417 __UNKNOWN__ __UNKNOWN__ 1 157550066 157550066 __UNKNOWN__ Intron SNP T T C rs10489673 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:157550066T>C ENST00000271532.1 - 8 1413 FCRL4_ENST00000448509.2_Intron NM_031282.2 NP_112572.1 Q96PJ5 FCRL4_HUMAN Fc receptor-like 4 NA NA immune system process (GO:0002376) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 40 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.245) TTGCATATTGTGTACTCGGGA 0.403 NA T||| 1916 0.382588 0.0318 0.5159 5008 , , NA 19045 0.619 NA 0.3817 False NA ,,, NA NA NA 2504 0.5194 NA NA NA NA 0 T 372,4034 190.2+/-216.2 17,338,1848 141 136 138 -0.6 0 1 dbSNP_119 138 3337,5263 498.1+/-374.7 619,2099,1582 no intron FCRL4 NM_031282.2 636,2437,3430 CC,CT,TT 38.8023,8.443,28.5176 157550066 3709,9297 2203 4300 6503 SO:0001627 intron_variant AF343661 CCDS1166.1 1q21 2013-01-14 ENSG00000163518 ENSG00000163518 83417 CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 18507 protein-coding gene gene with protein product 605876 NA 11290337, 11493702 Standard NM_031282 NM_031282 NA Approved FCRH4, IRTA1, IGFP2, CD307d uc001fqw.3 Q96PJ5 OTTHUMG00000035488 ENST00000271532.1:c.1277+44A>G chr1.hg19:g.157550066T>C NA Q96PJ3|Q96RE0 hg19 CCDS1166.1 0.02 22.769377 TTGxGTA COVERED NOVEL FCRL4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000086180.1 1 9.963708 KEEP 0 1 37 46 1416 TT 1 1 0 - 36 60 1276 0 0 87.141315 512 60 18568 722 ENST00000271532.1 0.065693 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 157605449 157605449 __UNKNOWN__ IGR SNP A A T rs1343619 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:157605449A>T NA NA FCRL4 (37579 upstream) : FCRL3 (40821 downstream) NA NA NA AGATTCAAGTAAAAAAAGAAG 0.308 NA A||| 2628 0.52476 0.4145 0.5432 5008 , , NA 18685 0.7034 NA 0.4384 False NA ,,, NA NA NA 2504 0.5654 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.157605449A>T NA hg19 0.02 1.915728 AGTxAAA COVERED NOVEL 0 0 3.61074 KEEP 0 0 0 12 377 AA 0.993634 0.993403 0 7 60 251 0 0 17.867167 80 60 2910 125 0.08046 0.999768 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 157605501 157605501 __UNKNOWN__ IGR SNP T T C rs2758620 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:157605501T>C NA NA FCRL4 (37631 upstream) : FCRL3 (40769 downstream) NA NA NA ACAATTTGCATACGTTTCTTG 0.284 NA C||| 2628 0.52476 0.4145 0.5432 5008 , , NA 19006 0.7034 NA 0.4384 False NA ,,, NA NA NA 2504 0.5654 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.157605501T>C NA hg19 0.02 2.394273 GCAxACG COVERED NOVEL 0 0 3.309667 KEEP 0 0 0 11 337 TT 0.993072 0.992188 0 5 60 199 0 0 14.221117 73 60 2628 108 0.064103 0.99911 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 157680114 157680114 __UNKNOWN__ IGR SNP T T C rs17727339 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:157680114T>C NA NA FCRL3 (9467 upstream) : FCRL2 (35408 downstream) NA NA NA CCCTGATCATTGCAAACGTTT 0.423 NA t||| 788 0.157348 0.062 0.1945 5008 , , NA 20322 0.2103 NA 0.2346 False NA ,,, NA NA NA 2504 0.1258 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.157680114T>C NA hg19 0.02 6.029276 CATxGCA COVERED NOVEL 0 1 3.007595 KEEP 0 0 0 10 281 TT 0.992708 0.992708 0 6 60 215 0 0 13.019965 169 60 5976 194 0.034286 1 FCRL2 79368 __UNKNOWN__ __UNKNOWN__ 1 157737504 157737504 __UNKNOWN__ Intron SNP G G A rs2873413 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:157737504G>A ENST00000361516.3 - 6 932 FCRL2_ENST00000368181.4_Intron|FCRL2_ENST00000469986.1_5'UTR|FCRL2_ENST00000392274.3_Intron NM_030764.3 NP_110391.2 Q96LA5 FCRL2_HUMAN Fc receptor-like 2 NA NA cell-cell signaling (GO:0007267)|positive regulation of signal transduction (GO:0009967) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) SH3/SH2 adaptor activity (GO:0005070) central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2) 51 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) GGTGCTGCCTGCAGACACGGT 0.368 NA A||| 2980 0.595048 0.9153 0.4683 5008 , , NA 16882 0.4772 NA 0.4841 False NA ,,, NA NA NA 2504 0.4877 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF319438 CCDS1168.1 1q23.1 2013-01-14 2002-01-14 2005-03-23 ENSG00000132704 ENSG00000132704 79368 CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 14875 protein-coding gene gene with protein product 606509 SH2 domain-containing phosphatase anchor protein 1 SPAP1 NA 11162587 Standard NM_030764 NM_030764 NA Approved FCRH2, IRTA4, CD307b uc001fre.2 Q96LA5 OTTHUMG00000019399 ENST00000361516.3:c.884-205C>T chr1.hg19:g.157737504G>A NA A0N0M5|A1L307|A6NMS0|Q6NTA1|Q9BZI4|Q9BZI5|Q9BZI6 hg19 CCDS1168.1 0.02 1.950809 CCTxCAG COVERED NOVEL FCRL2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000051408.2 0 2.407963 KEEP 0 0 0 8 291 GG 0.99257 0.992133 0 - 37 60 1336 0 0 126.224194 47 60 1801 121 ENST00000361516.3 0.440476 0.999559 CD5L 922 __UNKNOWN__ __UNKNOWN__ 1 157811585 157811585 __UNKNOWN__ 5'UTR SNP G G T rs2281870 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:157811585G>T ENST00000368174.4 - 0 3 CD5L_ENST00000484609.1_Intron NM_005894.2 NP_005885.1 O43866 CD5L_HUMAN CD5 molecule-like NA NA apoptotic process (GO:0006915)|cellular defense response (GO:0006968) blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) scavenger receptor activity (GO:0005044) NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 52 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) TATGTTAAGAGGAGGGACAAA 0.478 NA G||| 334 0.0666933 0.0091 0.0778 5008 , , NA 19775 0.1885 NA 0.0616 False NA ,,, NA NA NA 2504 0.0164 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant U82812 CCDS1171.1 1q21-q23 2008-02-05 2006-03-28 ENSG00000073754 ENSG00000073754 922 1690 protein-coding gene gene with protein product 602592 apoptosis inhibitor 6, CD5 antigen-like (scavenger receptor cysteine rich family) API6 NA 9045627 Standard NM_005894 NM_005894 NA Approved Spalpha uc001frk.4 O43866 OTTHUMG00000022440 ENST00000368174.4:c.-94C>A chr1.hg19:g.157811585G>T NA A8K7M5|Q6UX63 hg19 CCDS1171.1 0.02 12.49846 AGAxGAG COVERED NOVEL CD5L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000058346.1 1 10.834542 KEEP 0 0 0 36 1239 GG 0.999999 0.999999 0 - 11 60 369 0 0 21.433312 323 60 11940 430 ENST00000368174.4 0.032934 1 KIRREL 55243 __UNKNOWN__ __UNKNOWN__ 1 157974595 157974595 __UNKNOWN__ Intron SNP T T A rs6427414 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:157974595T>A ENST00000360089.4 + 1 460 KIRREL_ENST00000368173.3_Intron|KIRREL_ENST00000416935.2_Intron|KIRREL_ENST00000392272.2_Intron|KIRREL_ENST00000359209.6_Intron Q96J84 KIRR1_HUMAN kin of IRRE like (Drosophila) NA NA excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337) cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886) myosin binding (GO:0017022) NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1) 38 all_hematologic(112;0.0378) ttagccaggcttggtgatgtg 0.527 NA A||| 2918 0.582668 0.6399 0.5994 5008 , , NA 12621 0.7312 NA 0.5229 False NA ,,, NA NA NA 2504 0.4018 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK001707 CCDS1172.2, CCDS72952.1 1q21-q25 2013-01-29 ENSG00000183853 ENSG00000183853 55243 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 15734 protein-coding gene gene with protein product nephrin-like protein 1 607428 NA 12424224 Standard NM_018240 NM_001286349 NA Approved NEPH1 uc001frn.4 Q96J84 OTTHUMG00000022438 ENST00000360089.4:c.-132+11073T>A chr1.hg19:g.157974595T>A NA Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5 hg19 0.02 -0.02632 GGCxTGG UNCOVERED NOVEL KIRREL-002 PUTATIVE non_canonical_TEC|basic protein_coding NA protein_coding OTTHUMT00000058343.2 1 2.406953 KEEP 0 0 0 8 240 TT 0.99257 0 0 + 2 60 78 0 0 7.924911 1 60 36 13 ENST00000360089.4 0.666667 0 CD1B 910 __UNKNOWN__ __UNKNOWN__ 1 158299287 158299287 __UNKNOWN__ Silent SNP G G A rs544224696 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:158299287G>A ENST00000368168.3 - 4 866 c.759C>T c.(757-759)atC>atT p.I253I NM_001764.2 NP_001755.1 P29016 CD1B_HUMAN CD1b molecule 253 Ig-like. NA antigen processing and presentation (GO:0019882)|immune response (GO:0006955) cell surface (GO:0009986)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886) breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 30 all_hematologic(112;0.0378) CATTGGGCAGGATGTCCCCTA 0.592 NA .||| 4 0.000798722 0.0 0.0 5008 , , NA 19009 0.004 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 143 126 132 NA NA 1 NA 158299287 2203 4300 6503 SO:0001819 synonymous_variant M28826 CCDS1176.1 1q23.1 2014-01-14 2006-03-28 ENSG00000158485 ENSG00000158485 910 CD molecules, Immunoglobulin superfamily / C1-set domain containing 1635 protein-coding gene gene with protein product 188360 CD1B antigen, b polypeptide, CD1b antigen CD1 NA 2447586 Standard NM_001764 NM_001764 NA Approved uc001frx.3 P29016 OTTHUMG00000017513 ENST00000368168.3:c.759C>T chr1.hg19:g.158299287G>A NA Q5TDK9|Q5TDL0|Q9UMM2 hg19 CCDS1176.1 0.02 6.421995 CAGxATG COVERED NOVEL CD1B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000046350.2 0 4.213639 KEEP 0 0 0 14 491 GG 0.995343 0.995343 0 - 10 60 356 0 0 24.333283 143 60 5230 182 ENST00000368168.3 0.065359 1 OR10Z1 128368 __UNKNOWN__ __UNKNOWN__ 1 158577109 158577109 __UNKNOWN__ Missense_Mutation SNP A A C rs857685 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:158577109A>C ENST00000361284.1 + 1 881 c.881A>C c.(880-882)aAt>aCt p.N294T NM_001004478.1 NP_001004478.1 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, member 1 294 NA N -> T (in dbSNP:rs857685). {ECO:0000269|Ref.3}. integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4) 37 all_hematologic(112;0.0378) AGTCTAAGGAATAGGGCTATA 0.468 NA A||| 1213 0.242212 0.0658 0.2983 5008 , , NA 21019 0.495 NA 0.2634 False NA ,,, NA NA NA 2504 0.1585 NA NA NA NA 0 A THR/ASN 432,3974 210.2+/-230.7 16,400,1787 181 183 182 881 5.2 0.9 1 dbSNP_86 182 2170,6430 370.0+/-335.7 290,1590,2420 yes missense OR10Z1 NM_001004478.1 65 306,1990,4207 CC,CA,AA 25.2326,9.8048,20.0062 probably-damaging 294/314 158577109 2602,10404 2203 4300 6503 SO:0001583 missense AB065635 CCDS30901.1 1q23.1 2012-08-23 ENSG00000198967 ENSG00000198967 128368 GPCR / Class A : Olfactory receptors 14996 protein-coding gene gene with protein product NA Standard NM_001004478 NM_001004478 NA Approved uc010pio.2 Q8NGY1 OTTHUMG00000019637 ENST00000361284.1:c.881A>C chr1.hg19:g.158577109A>C ENSP00000354707:p.Asn294Thr NA Q5VYL0|Q6IFR7 hg19 CCDS30901.1 0.02 20.356417 GGAxTAG COVERED 595 0.2724358974358974 38 0.07723577235772358 101 0.27900552486187846 252 0.4405594405594406 204 0.2691292875989446 A 12.87 2.067421 0.36470 0.098048 0.252326 ENSG00000198967 ENST00000361284 T 0.47528 0.84 5.19 5.19 0.71726 . 0.000000 0.40818 N 0.001014 T 0.48607 0.1509 L 0.34521 1.04 0.53688 P 2.6999999999999247E-5 D 0.89917 1.0 D 0.78314 0.991 T 0.57382 -0.7821 9 0.87932 D 0 . 14.1654 0.65473 1.0:0.0:0.0:0.0 rs857685;rs52811497;rs857685 294 Q8NGY1 O10Z1_HUMAN T 294 ENSP00000354707:N294T ENSP00000354707:N294T N + 2 0 OR10Z1 156843733 1.000000 0.71417 0.901000 0.35422 0.564000 0.35744 5.936000 0.70153 2.170000 0.68504 0.528000 0.53228 AAT NOVEL OR10Z1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000051853.1 3 7.222187 KEEP 0 0 0 24 767 AA 0.999909 0.999909 0 + 13 60 487 1 0 28.824911 481 60 17381 579 ENST00000361284.1 0.026316 1 SPTA1 6708 __UNKNOWN__ __UNKNOWN__ 1 158585230 158585230 __UNKNOWN__ Intron SNP C C T rs2518491 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:158585230C>T ENST00000368147.4 - 48 6781 NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 NA NA actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360) actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731) actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200) NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) AATTAGTTGCCCAGGTTACCA 0.443 NA C||| 1160 0.231629 0.0567 0.3012 5008 , , NA 18742 0.4306 NA 0.2763 False NA ,,, NA NA NA 2504 0.1677 NA NA NA NA 0 C 346,3368 11,324,1522 64 61 62 -6.2 0 1 dbSNP_100 62 2160,6038 300,1560,2239 no intron SPTA1 NM_003126.2 311,1884,3761 TT,TC,CC 26.3479,9.3161,21.0376 158585230 2506,9406 1857 4099 5956 SO:0001627 intron_variant M61877 CCDS41423.1 1q21 2014-06-23 2014-06-23 ENSG00000163554 ENSG00000163554 6708 EF-hand domain containing 11272 protein-coding gene gene with protein product elliptocytosis 2 182860 spectrin, alpha, erythrocytic 1 (elliptocytosis 2) NA Standard NM_003126 NM_003126 NA Approved EL2 uc001fst.1 P02549 OTTHUMG00000019636 ENST00000368147.4:c.6601-37G>A chr1.hg19:g.158585230C>T NA Q15514|Q5VYL1|Q5VYL2|Q6LDY5 hg19 CCDS41423.1 0.02 2.305805 TGCxCAG COVERED NOVEL SPTA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000051851.3 0 3.009794 KEEP 0 0 0 10 350 CC 0.992708 0.969742 0 - 5 60 186 0 0 13.713896 50 60 1792 78 ENST00000368147.4 0.090909 0.976865 SPTA1 6708 __UNKNOWN__ __UNKNOWN__ 1 158587390 158587390 __UNKNOWN__ Intron SNP C C T rs857716 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:158587390C>T ENST00000368147.4 - 47 6729 NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 NA NA actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360) actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731) actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200) NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TAGTTAAGAACCGAAGGAAAT 0.368 NA C||| 2459 0.491014 0.3699 0.5187 5008 , , NA 20852 0.63 NA 0.5626 False NA ,,, NA NA NA 2504 0.4182 NA NA NA NA 0 C 1406,2366 248,910,728 95 88 90 -5.8 0 1 dbSNP_86 90 4413,3807 1210,1993,907 no intron SPTA1 NM_003126.2 1458,2903,1635 TT,TC,CC 46.3139,37.2747,48.524 158587390 5819,6173 1886 4110 5996 SO:0001627 intron_variant M61877 CCDS41423.1 1q21 2014-06-23 2014-06-23 ENSG00000163554 ENSG00000163554 6708 EF-hand domain containing 11272 protein-coding gene gene with protein product elliptocytosis 2 182860 spectrin, alpha, erythrocytic 1 (elliptocytosis 2) NA Standard NM_003126 NM_003126 NA Approved EL2 uc001fst.1 P02549 OTTHUMG00000019636 ENST00000368147.4:c.6549-12G>A chr1.hg19:g.158587390C>T NA Q15514|Q5VYL1|Q5VYL2|Q6LDY5 hg19 CCDS41423.1 0.02 14.941888 GAAxCGA COVERED NOVEL SPTA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000051851.3 1 9.027299 KEEP 0 0 0 30 1039 CC 0.999997 0.999997 0 - 10 60 377 0 0 22.228063 385 60 14322 513 ENST00000368147.4 0.025316 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 159249743 159249743 __UNKNOWN__ IGR SNP G G T rs386635985|rs11265163 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:159249743G>T NA NA CTA-134P22.2 (71980 upstream) : FCER1A (9760 downstream) NA NA NA CCTTATCACTGTGTGGTTCTC 0.418 NA G||| 1577 0.314896 0.4992 0.1311 5008 , , NA 20039 0.5079 NA 0.0656 False NA ,,, NA NA NA 2504 0.2536 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.159249743G>T NA hg19 0.02 5.710958 ACTxTGT COVERED NOVEL 0 1 4.815768 KEEP 0 0 0 16 570 GG 0.997832 0.997832 0 7 60 250 0 0 15.170667 193 60 7272 247 0.035 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 159249745 159249745 __UNKNOWN__ IGR SNP G G T rs11265164|rs386635985 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:159249745G>T NA NA CTA-134P22.2 (71982 upstream) : FCER1A (9758 downstream) NA NA NA TTATCACTGTGTGGTTCTCTC 0.413 NA G||| 1577 0.314896 0.4992 0.1311 5008 , , NA 20013 0.5079 NA 0.0656 False NA ,,, NA NA NA 2504 0.2536 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.159249745G>T NA hg19 0.02 5.728466 TGTxTGG COVERED NOVEL 0 1 4.81578 KEEP 0 0 0 16 571 GG 0.997832 0.997832 0 6 60 214 0 0 12.594675 192 60 7213 242 0.030303 1 FCER1A 2205 __UNKNOWN__ __UNKNOWN__ 1 159272764 159272764 __UNKNOWN__ Intron SNP C C T rs12119226 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:159272764C>T ENST00000368115.1 + 3 175 FCER1A_ENST00000368114.1_Intron NM_002001.3 NP_001992.1 P12319 FCERA_HUMAN Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide NA NA activation of JUN kinase activity (GO:0007257)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|leukotriene biosynthetic process (GO:0019370)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of type I hypersensitivity (GO:0001812)|serotonin secretion (GO:0001820) cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) IgE receptor activity (GO:0019767) autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 all_hematologic(112;0.0429) Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043) TTCTAATGAGCATGAATCTGT 0.443 NA T||| 955 0.190695 0.0809 0.1441 5008 , , NA 21318 0.5 NA 0.0915 False NA ,,, NA NA NA 2504 0.1554 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC015195 CCDS1184.1 1q23 2013-01-11 ENSG00000179639 ENSG00000179639 2205 Immunoglobulin superfamily / Immunoglobulin-like domain containing 3609 protein-coding gene gene with protein product 147140 FCE1A NA 8245459 Standard NM_002001 NM_002001 NA Approved uc001ftq.3 P12319 OTTHUMG00000037176 ENST00000368115.1:c.76+100C>T chr1.hg19:g.159272764C>T NA hg19 CCDS1184.1 0.02 14.475095 GAGxATG COVERED NOVEL FCER1A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000090328.2 5 10.233108 KEEP 0 0 0 34 1219 CC 0.999998 0.999998 0 + 12 60 442 0 0 26.787886 369 60 14173 491 ENST00000368115.1 0.031496 1 OR10J3 441911 __UNKNOWN__ __UNKNOWN__ 1 159283494 159283494 __UNKNOWN__ Missense_Mutation SNP T T C rs58037016 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:159283494T>C ENST00000332217.5 - 1 955 c.956A>G c.(955-957)gAa>gGa p.E319G NM_001004467.1 NP_001004467.1 Q5JRS4 O10J3_HUMAN olfactory receptor, family 10, subfamily J, member 3 319 NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 47 all_hematologic(112;0.0429) GGAAAAGCCTTCACAACCTCT 0.398 NA T||| 625 0.1248 0.0038 0.1009 5008 , , NA 22619 0.3621 NA 0.0746 False NA ,,, NA NA NA 2504 0.1125 NA NA NA NA 0 T GLY/GLU 71,4335 58.1+/-94.6 1,69,2133 57 60 59 956 4 0 1 dbSNP_129 59 485,8115 131.0+/-188.9 18,449,3833 yes missense OR10J3 NM_001004467.1 98 19,518,5966 CC,CT,TT 5.6395,1.6114,4.275 benign 319/330 159283494 556,12450 2203 4300 6503 SO:0001583 missense CCDS30909.1 1q23.2 2012-08-09 2004-03-10 ENSG00000196266 ENSG00000196266 441911 GPCR / Class A : Olfactory receptors 14992 protein-coding gene gene with protein product OR10J3P NA Standard NM_001004467 NA Approved uc010piu.2 Q5JRS4 OTTHUMG00000037233 ENST00000332217.5:c.956A>G chr1.hg19:g.159283494T>C ENSP00000331789:p.Glu319Gly NA hg19 CCDS30909.1 0.02 29.745002 CCTxCAC COVERED 277 0.12683150183150182 2 0.0040650406504065045 28 0.07734806629834254 198 0.34615384615384615 49 0.06464379947229551 T 11.08 1.533073 0.27387 0.016114 0.056395 ENSG00000196266 ENST00000332217 T 0.00545 6.67 5.08 3.95 0.45737 . . . . . T 0.00109 0.0003 N 0.08118 0 0.80722 P 0.0 B 0.02656 0.0 B 0.04013 0.001 T 0.04307 -1.0961 8 0.20046 T 0.44 . 7.5585 0.27837 0.0:0.0953:0.0:0.9047 rs58037016 319 Q5JRS4 O10J3_HUMAN G 319 ENSP00000331789:E319G ENSP00000331789:E319G E - 2 0 OR10J3 157550118 0.000000 0.05858 0.003000 0.11579 0.007000 0.05969 0.524000 0.22940 0.944000 0.37579 0.533000 0.62120 GAA NOVEL OR10J3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000090629.1 6 22.866559 KEEP 0 0 0 76 2408 TT 1 1 0 - 22 60 798 1 0 48.586556 638 60 22826 890 ENST00000332217.5 0.033333 1 FCRL6 343413 __UNKNOWN__ __UNKNOWN__ 1 159785345 159785345 __UNKNOWN__ Missense_Mutation SNP C C T rs149132393 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:159785345C>T ENST00000368106.3 + 10 1200 c.1199C>T c.(1198-1200)gCg>gTg p.A400V FCRL6_ENST00000339348.5_Silent_p.C389C|FCRL6_ENST00000321935.6_Silent_p.C405C|FCRL6_ENST00000392235.3_Silent_p.C303C NM_001004310.2 NP_001004310.2 Q6DN72 FCRL6_HUMAN Fc receptor-like 6 400 NA external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021) NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 24 all_hematologic(112;0.0597) ATCATCTGTGCGGAGGTGAGA 0.527 NA .||| 4 0.000798722 0.0 0.0 5008 , , NA 22009 0.004 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 C VAL/ALA 0,4406 0,0,2203 141 134 136 1199 2.9 0 1 dbSNP_134 136 2,8598 2.2+/-6.3 0,2,4298 yes missense FCRL6 NM_001004310.2 64 0,2,6501 TT,TC,CC 0.0233,0.0,0.0154 benign 400/435 159785345 2,13004 2203 4300 6503 SO:0001583 missense AK131201 CCDS30912.1, CCDS60312.1 1q23.2 2013-01-11 ENSG00000181036 ENSG00000181036 343413 Immunoglobulin superfamily / Immunoglobulin-like domain containing 31910 protein-coding gene gene with protein product 613562 NA Standard NM_001004310 NM_001004310 NA Approved IFGP6, FLJ16056, FcRH6 uc001fud.4 Q6DN72 OTTHUMG00000035351 ENST00000368106.3:c.1199C>T chr1.hg19:g.159785345C>T ENSP00000357086:p.Ala400Val NA A1KXW6|A2A4D6|Q6DN73|Q6XRC3|Q6ZNI1 hg19 CCDS30912.1 0.02 16.580636 GTGxGGA COVERED . . . . . . . . . . C 11.43 1.636222 0.29068 0.0 2.33E-4 ENSG00000181036 ENST00000368106 T 0.01203 5.18 3.87 2.94 0.34122 . . . . . T 0.00328 0.0010 N 0.14661 0.345 0.09310 N 1 P 0.37141 0.584 B 0.28849 0.095 T 0.48269 -0.9050 9 0.54805 T 0.06 . 7.9397 0.29950 0.0:0.8868:0.0:0.1132 . 400 Q6DN72 FCRL6_HUMAN V 400 ENSP00000357086:A400V ENSP00000357086:A400V A + 2 0 FCRL6 158051969 0.001000 0.12720 0.001000 0.08648 0.101000 0.19017 1.330000 0.33781 1.184000 0.42957 0.491000 0.48974 GCG NOVEL FCRL6-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000276853.1 2 16.252114 KEEP 0 0 0 54 1873 CC 1 1 0 + 14 60 497 0 0 30.013555 388 60 13885 550 ENST00000368106.3 0.034826 1 SLAMF8 56833 __UNKNOWN__ __UNKNOWN__ 1 159802627 159802627 __UNKNOWN__ Intron SNP A A C rs2494480 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:159802627A>C ENST00000289707.5 + 3 516 SLAMF8_ENST00000471286.1_Intron|SLAMF8_ENST00000368104.4_Intron NM_020125.2 NP_064510.1 Q9P0V8 SLAF8_HUMAN SLAM family member 8 NA NA cellular response to drug (GO:0035690)|defense response to bacterium (GO:0042742)|phagosome acidification (GO:0090383)|regulation of kinase activity (GO:0043549)|regulation of NAD(P)H oxidase activity (GO:0033860) integral component of membrane (GO:0016021) receptor activity (GO:0004872) endometrium(2)|large_intestine(4)|lung(6) 12 all_hematologic(112;0.0597) CCTGCCCAGCATCCCTGAGAC 0.552 NA A||| 1616 0.322684 0.4766 0.1527 5008 , , NA 18701 0.5198 NA 0.1133 False NA ,,, NA NA NA 2504 0.2474 NA NA NA NA 0 A 1568,2660 297,974,843 49 52 51 -1.7 0 1 dbSNP_100 51 871,7657 37,797,3430 no intron SLAMF8 NM_020125.2 334,1771,4273 CC,CA,AA 10.2134,37.0861,19.1204 159802627 2439,10317 2114 4264 6378 SO:0001627 intron_variant AF146761 CCDS1188.1 1q23.1 2013-01-11 ENSG00000158714 ENSG00000158714 56833 CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 21391 protein-coding gene gene with protein product 606620 NA 11313408 Standard NM_020125 NM_020125 NA Approved BLAME, SBBI42, CD353 uc001fue.4 Q9P0V8 OTTHUMG00000035433 ENST00000289707.5:c.368-39A>C chr1.hg19:g.159802627A>C NA Q32MC6|Q5VU15 hg19 CCDS1188.1 0.02 4.866896 AGCxTCC COVERED NOVEL SLAMF8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000085983.1 0 8.124698 KEEP 0 0 0 27 851 AA 0.999988 0.999984 0 + 7 60 258 0 0 17.693897 108 60 3903 168 ENST00000289707.5 0.06087 0.999997 TAGLN2 8407 __UNKNOWN__ __UNKNOWN__ 1 159889686 159889686 __UNKNOWN__ Intron SNP G G A rs2252815 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:159889686G>A ENST00000368097.4 - 3 491 TAGLN2_ENST00000320307.4_Intron|TAGLN2_ENST00000478033.1_Intron|TAGLN2_ENST00000368096.1_Intron NM_001277223.1|NM_003564.1 NP_001264152.1|NP_003555.1 P37802 TAGL2_HUMAN transgelin 2 NA NA epithelial cell differentiation (GO:0030855) extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982) endometrium(1)|large_intestine(2)|lung(6) 9 all_hematologic(112;0.0597) BRCA - Breast invasive adenocarcinoma(70;0.111) AGCTCAGCGTGCACCACCCTC 0.532 NA G||| 2557 0.510583 0.3797 0.6282 5008 , , NA 21846 0.6419 NA 0.5109 False NA ,,, NA NA NA 2504 0.4683 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D21261 CCDS1189.1, CCDS60314.1 1q21-q25 2008-07-18 ENSG00000158710 ENSG00000158710 8407 11554 protein-coding gene gene with protein product SM22-alpha homolog 604634 NA 9693045 Standard NM_003564 NM_001277223 NA Approved KIAA0120, HA1756 uc031pqu.1 P37802 OTTHUMG00000022793 ENST00000368097.4:c.181-61C>T chr1.hg19:g.159889686G>A NA E9KL39|Q5JRQ6|Q5JRQ7|Q6FGI1|Q9BUH5|Q9H4P0 hg19 CCDS1189.1 0.02 4.337102 CGTxCAC COVERED NOVEL TAGLN2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000059105.1 1 10.835398 KEEP 0 0 0 36 1290 GG 0.999999 0.999988 0 - 9 60 305 0 0 21.384706 98 60 3672 176 ENST00000368097.4 0.084112 0.999989 TAGLN2 8407 __UNKNOWN__ __UNKNOWN__ 1 159893592 159893592 __UNKNOWN__ Intron SNP C C T rs34128867 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:159893592C>T ENST00000368097.4 - 1 283 TAGLN2_ENST00000320307.4_Intron|TAGLN2_ENST00000478033.1_Intron NM_001277223.1|NM_003564.1 NP_001264152.1|NP_003555.1 P37802 TAGL2_HUMAN transgelin 2 NA NA epithelial cell differentiation (GO:0030855) extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982) endometrium(1)|large_intestine(2)|lung(6) 9 all_hematologic(112;0.0597) BRCA - Breast invasive adenocarcinoma(70;0.111) AGGTGGGGGCCGTTGCCATGG 0.592 NA C||| 425 0.0848642 0.0038 0.1182 5008 , , NA 16977 0.2242 NA 0.0487 False NA ,,, NA NA NA 2504 0.0644 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D21261 CCDS1189.1, CCDS60314.1 1q21-q25 2008-07-18 ENSG00000158710 ENSG00000158710 8407 11554 protein-coding gene gene with protein product SM22-alpha homolog 604634 NA 9693045 Standard NM_003564 NM_001277223 NA Approved KIAA0120, HA1756 uc031pqu.1 P37802 OTTHUMG00000022793 ENST00000368097.4:c.27+1647G>A chr1.hg19:g.159893592C>T NA E9KL39|Q5JRQ6|Q5JRQ7|Q6FGI1|Q9BUH5|Q9H4P0 hg19 CCDS1189.1 0.02 2.138522 GGCxGTT COVERED NOVEL TAGLN2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000059105.1 2 21.665211 KEEP 0 0 0 72 2329 CC 1 0.9982 0 - 4 60 145 0 0 9.65331 70 60 2317 170 ENST00000368097.4 0.054054 0.9982 ATP1A2 477 __UNKNOWN__ __UNKNOWN__ 1 160098543 160098543 __UNKNOWN__ Silent SNP G G A rs1063125 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:160098543G>A ENST00000361216.3 + 9 1208 c.1119G>A c.(1117-1119)tcG>tcA p.S373S ATP1A2_ENST00000392233.3_Silent_p.S373S NM_000702.3 NP_000693.1 P50993 AT1A2_HUMAN ATPase, Na+/K+ transporting, alpha 2 polypeptide 373 NA adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542) caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982) ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239) NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) CCATCTGCTCGGACAAGACGG 0.607 NA G||| 1050 0.209665 0.2163 0.0908 5008 , , NA 17974 0.1548 NA 0.1869 False NA ,,, NA NA NA 2504 0.365 NA NA NA NA 0 G 837,3569 331.5+/-302.0 87,663,1453 130 105 114 1119 -9.6 0.1 1 dbSNP_86 114 1666,6934 307.3+/-308.3 176,1314,2810 no coding-synonymous ATP1A2 NM_000702.3 263,1977,4263 AA,AG,GG 19.3721,18.9968,19.245 373/1021 160098543 2503,10503 2203 4300 6503 SO:0001819 synonymous_variant AB018321 CCDS1196.1 1q23.2 2014-09-17 2010-04-20 ENSG00000018625 ENSG00000018625 477 3.6.3.9 ATPases / P-type 800 protein-coding gene gene with protein product sodium/potassium-transporting ATPase subunit alpha-2, sodium pump subunit alpha-2, sodium-potassium ATPase catalytic subunit alpha-2 182340 migraine, hemiplegic 2, ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide MHP2 NA 9403481 Standard NM_000702 NM_000702 NA Approved FHM2 uc001fvc.3 P50993 OTTHUMG00000024080 ENST00000361216.3:c.1119G>A chr1.hg19:g.160098543G>A NA D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25 hg19 CCDS1196.1 0.02 17.190375 CTCxGAC COVERED 341 0.15613553113553114 91 0.18495934959349594 35 0.09668508287292818 92 0.16083916083916083 123 0.16226912928759896 G 8.401 0.842037 0.16963 0.189968 0.193721 ENSG00000018625 ENST00000447527 . . . 4.77 -9.55 0.00569 . . . . . T 0.04318 0.0119 . . . 0.09310 P 0.9999999999992175 . . . . . . T 0.04467 -1.0949 3 . . . . 3.2346 0.06760 0.4583:0.2946:0.164:0.0831 rs1063125;rs2229138;rs4017977;rs17846710 . . . Q 84 . . R + 2 0 ATP1A2 158365167 0.000000 0.05858 0.080000 0.20451 0.960000 0.62799 -6.597000 0.00060 -3.646000 0.00127 -1.010000 0.02471 CGG NOVEL ATP1A2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000060642.2 2 25.616167 KEEP 1 1 31 96 3309 GG 1 1 0 + 34 60 1285 0 0 96.021288 322 60 11301 563 ENST00000361216.3 0.095506 1 ATP1A2 477 __UNKNOWN__ __UNKNOWN__ 1 160106181 160106181 __UNKNOWN__ Intron SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:160106181C>T ENST00000361216.3 + 18 2652 ATP1A2_ENST00000392233.3_Intron NM_000702.3 NP_000693.1 P50993 AT1A2_HUMAN ATPase, Na+/K+ transporting, alpha 2 polypeptide NA NA adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542) caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982) ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239) NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) CCCCGGGCCTCGGGAGGGAAC 0.597 NA NA NA NA NA NA NA NA NA NA NA 0 40 44 43 NA NA 1 NA 160106181 2203 4300 6503 SO:0001627 intron_variant AB018321 CCDS1196.1 1q23.2 2014-09-17 2010-04-20 ENSG00000018625 ENSG00000018625 477 3.6.3.9 ATPases / P-type 800 protein-coding gene gene with protein product sodium/potassium-transporting ATPase subunit alpha-2, sodium pump subunit alpha-2, sodium-potassium ATPase catalytic subunit alpha-2 182340 migraine, hemiplegic 2, ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide MHP2 NA 9403481 Standard NM_000702 NM_000702 NA Approved FHM2 uc001fvc.3 P50993 OTTHUMG00000024080 ENST00000361216.3:c.2563+21C>T chr1.hg19:g.160106181C>T NA D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25 hg19 CCDS1196.1 0.02 1.950945 CCTxGGG COVERED NOVEL ATP1A2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000060642.2 0 4.514495 KEEP 0 0 0 15 518 CC 0.99649 0.996051 0 + 7 60 249 0 0 17.779358 77 60 2588 116 ENST00000361216.3 0.083333 0.999559 ATP1A2 477 __UNKNOWN__ __UNKNOWN__ 1 160109788 160109788 __UNKNOWN__ Intron SNP C C T rs41288127 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:160109788C>T ENST00000361216.3 + 22 3123 ATP1A2_ENST00000392233.3_Intron|ATP1A2_ENST00000459972.1_Intron NM_000702.3 NP_000693.1 P50993 AT1A2_HUMAN ATPase, Na+/K+ transporting, alpha 2 polypeptide NA NA adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542) caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982) ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239) NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) AGCCCCTCCACATTCCCCCCA 0.587 NA C||| 479 0.095647 0.0991 0.1282 5008 , , NA 16814 0.0645 NA 0.1173 False NA ,,, NA NA NA 2504 0.0777 NA NA NA NA 0 C 490,3916 228.5+/-243.3 25,440,1738 79 73 75 0.5 0 1 dbSNP_127 75 1155,7445 237.5+/-269.3 81,993,3226 no intron ATP1A2 NM_000702.3 106,1433,4964 TT,TC,CC 13.4302,11.1212,12.648 160109788 1645,11361 2203 4300 6503 SO:0001627 intron_variant AB018321 CCDS1196.1 1q23.2 2014-09-17 2010-04-20 ENSG00000018625 ENSG00000018625 477 3.6.3.9 ATPases / P-type 800 protein-coding gene gene with protein product sodium/potassium-transporting ATPase subunit alpha-2, sodium pump subunit alpha-2, sodium-potassium ATPase catalytic subunit alpha-2 182340 migraine, hemiplegic 2, ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide MHP2 NA 9403481 Standard NM_000702 NM_000702 NA Approved FHM2 uc001fvc.3 P50993 OTTHUMG00000024080 ENST00000361216.3:c.3034+14C>T chr1.hg19:g.160109788C>T NA D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25 hg19 CCDS1196.1 0.02 3.67968 CCAxATT COVERED NOVEL ATP1A2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000060642.2 0 4.513798 KEEP 0 0 0 15 505 CC 0.99649 0.99649 0 + 6 60 177 0 0 10.042007 142 60 5134 195 ENST00000361216.3 0.040541 1 ATP1A2 477 __UNKNOWN__ __UNKNOWN__ 1 160111184 160111184 __UNKNOWN__ 3'UTR SNP G G A rs2070701 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:160111184G>A ENST00000361216.3 + 0 3224 ATP1A2_ENST00000392233.3_3'UTR|ATP1A2_ENST00000459972.1_3'UTR NM_000702.3 NP_000693.1 P50993 AT1A2_HUMAN ATPase, Na+/K+ transporting, alpha 2 polypeptide NA NA adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542) caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982) ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239) NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) GTGATGGAGAGGGATGGAAAT 0.517 NA G||| 93 0.0185703 0.0015 0.0677 5008 , , NA 18311 0.0377 NA 0.003 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 100 96 97 NA NA 1 NA 160111184 692 1591 2283 SO:0001624 3_prime_UTR_variant AB018321 CCDS1196.1 1q23.2 2014-09-17 2010-04-20 ENSG00000018625 ENSG00000018625 477 3.6.3.9 ATPases / P-type 800 protein-coding gene gene with protein product sodium/potassium-transporting ATPase subunit alpha-2, sodium pump subunit alpha-2, sodium-potassium ATPase catalytic subunit alpha-2 182340 migraine, hemiplegic 2, ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide MHP2 NA 9403481 Standard NM_000702 NM_000702 NA Approved FHM2 uc001fvc.3 P50993 OTTHUMG00000024080 ENST00000361216.3:c.*72G>A chr1.hg19:g.160111184G>A NA D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25 hg19 CCDS1196.1 0.02 10.344228 AGAxGGA COVERED NOVEL ATP1A2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000060642.2 1 6.019524 KEEP 0 0 0 20 710 GG 0.999863 0.999863 0 + 9 60 335 0 0 20.301133 287 60 10354 349 ENST00000361216.3 0.030405 1 ATP1A2 477 __UNKNOWN__ __UNKNOWN__ 1 160112138 160112138 __UNKNOWN__ 3'UTR SNP A A G rs2070704 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:160112138A>G ENST00000361216.3 + 0 4178 NM_000702.3 NP_000693.1 P50993 AT1A2_HUMAN ATPase, Na+/K+ transporting, alpha 2 polypeptide NA NA adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542) caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982) ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239) NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) TCATTCCCCGACACTGCCAAG 0.532 NA G||| 1064 0.21246 0.2451 0.1225 5008 , , NA 18168 0.1488 NA 0.2117 False NA ,,, NA NA NA 2504 0.2986 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB018321 CCDS1196.1 1q23.2 2014-09-17 2010-04-20 ENSG00000018625 ENSG00000018625 477 3.6.3.9 ATPases / P-type 800 protein-coding gene gene with protein product sodium/potassium-transporting ATPase subunit alpha-2, sodium pump subunit alpha-2, sodium-potassium ATPase catalytic subunit alpha-2 182340 migraine, hemiplegic 2, ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide MHP2 NA 9403481 Standard NM_000702 NM_000702 NA Approved FHM2 uc001fvc.3 P50993 OTTHUMG00000024080 ENST00000361216.3:c.*1026A>G chr1.hg19:g.160112138A>G NA D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25 hg19 CCDS1196.1 0.02 8.639281 CCGxCAC COVERED NOVEL ATP1A2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000060642.2 0 11.734285 KEEP 0 0 0 39 1203 AA 1 1 0 + 10 60 366 0 0 23.752059 208 60 7165 332 ENST00000361216.3 0.045872 1 ATP1A2 477 __UNKNOWN__ __UNKNOWN__ 1 160112207 160112207 __UNKNOWN__ 3'UTR SNP T T A rs56199408 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:160112207T>A ENST00000361216.3 + 0 4247 NM_000702.3 NP_000693.1 P50993 AT1A2_HUMAN ATPase, Na+/K+ transporting, alpha 2 polypeptide NA NA adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542) caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982) ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239) NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) AGAAGTTCCCTGAACCTTCCT 0.507 NA A||| 1064 0.21246 0.2451 0.1225 5008 , , NA 21737 0.1488 NA 0.2117 False NA ,,, NA NA NA 2504 0.2986 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB018321 CCDS1196.1 1q23.2 2014-09-17 2010-04-20 ENSG00000018625 ENSG00000018625 477 3.6.3.9 ATPases / P-type 800 protein-coding gene gene with protein product sodium/potassium-transporting ATPase subunit alpha-2, sodium pump subunit alpha-2, sodium-potassium ATPase catalytic subunit alpha-2 182340 migraine, hemiplegic 2, ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide MHP2 NA 9403481 Standard NM_000702 NM_000702 NA Approved FHM2 uc001fvc.3 P50993 OTTHUMG00000024080 ENST00000361216.3:c.*1095T>A chr1.hg19:g.160112207T>A NA D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25 hg19 CCDS1196.1 0.02 9.065116 CCCxGAA COVERED NOVEL ATP1A2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000060642.2 3 7.82365 KEEP 0 0 0 26 819 TT 0.999957 0.999957 0 + 7 60 268 0 0 16.74376 208 60 7832 292 ENST00000361216.3 0.032558 1 ATP1A2 477 __UNKNOWN__ __UNKNOWN__ 1 160112741 160112741 __UNKNOWN__ 3'UTR SNP T T C rs1046995 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:160112741T>C ENST00000361216.3 + 0 4781 NM_000702.3 NP_000693.1 P50993 AT1A2_HUMAN ATPase, Na+/K+ transporting, alpha 2 polypeptide NA NA adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542) caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982) ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239) NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) TAGCTTTCTTTCCCTTACTCC 0.507 NA T||| 1066 0.212859 0.2458 0.1225 5008 , , NA 20703 0.1488 NA 0.2117 False NA ,,, NA NA NA 2504 0.2996 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB018321 CCDS1196.1 1q23.2 2014-09-17 2010-04-20 ENSG00000018625 ENSG00000018625 477 3.6.3.9 ATPases / P-type 800 protein-coding gene gene with protein product sodium/potassium-transporting ATPase subunit alpha-2, sodium pump subunit alpha-2, sodium-potassium ATPase catalytic subunit alpha-2 182340 migraine, hemiplegic 2, ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide MHP2 NA 9403481 Standard NM_000702 NM_000702 NA Approved FHM2 uc001fvc.3 P50993 OTTHUMG00000024080 ENST00000361216.3:c.*1629T>C chr1.hg19:g.160112741T>C NA D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25 hg19 CCDS1196.1 0.02 6.061117 CTTxCCC COVERED NOVEL ATP1A2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000060642.2 1 7.823041 KEEP 0 0 0 26 836 TT 0.999957 0.999957 0 + 8 60 274 0 0 17.43196 152 60 5451 226 ENST00000361216.3 0.05 1 ATP1A2 477 __UNKNOWN__ __UNKNOWN__ 1 160113371 160113371 __UNKNOWN__ 3'UTR SNP T T A rs3747625 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:160113371T>A ENST00000361216.3 + 0 5411 NM_000702.3 NP_000693.1 P50993 AT1A2_HUMAN ATPase, Na+/K+ transporting, alpha 2 polypeptide NA NA adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542) caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982) ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239) NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) catttctttatgaaaaaaaaa 0.328 NA T||| 1091 0.217851 0.2655 0.1254 5008 , , NA 19024 0.1488 NA 0.2107 False NA ,,, NA NA NA 2504 0.2975 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB018321 CCDS1196.1 1q23.2 2014-09-17 2010-04-20 ENSG00000018625 ENSG00000018625 477 3.6.3.9 ATPases / P-type 800 protein-coding gene gene with protein product sodium/potassium-transporting ATPase subunit alpha-2, sodium pump subunit alpha-2, sodium-potassium ATPase catalytic subunit alpha-2 182340 migraine, hemiplegic 2, ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide MHP2 NA 9403481 Standard NM_000702 NM_000702 NA Approved FHM2 uc001fvc.3 P50993 OTTHUMG00000024080 ENST00000361216.3:c.*2259T>A chr1.hg19:g.160113371T>A NA D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25 hg19 CCDS1196.1 0.02 3.778049 TTAxGAA COVERED NOVEL ATP1A2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000060642.2 2 5.115535 KEEP 0 0 0 17 533 TT 0.999366 0.999366 0 + 5 60 184 0 0 11.299311 143 60 5254 192 ENST00000361216.3 0.033784 1 ATP1A4 480 __UNKNOWN__ __UNKNOWN__ 1 160121899 160121899 __UNKNOWN__ Silent SNP A A G rs77332724 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:160121899A>G ENST00000368081.4 + 1 540 c.69A>G c.(67-69)aaA>aaG p.K23K NM_144699.3 NP_653300.2 Q13733 AT1A4_HUMAN ATPase, Na+/K+ transporting, alpha 4 polypeptide 23 NA ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391) p.G24fs*28(1) breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 75 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GACCTAAAAAAGGGCTTATCA 0.507 NA A||| 332 0.0662939 0.0068 0.1225 5008 , , NA 18851 0.0456 NA 0.1173 False NA ,,, NA NA NA 2504 0.0757 NA NA NA NA 1 Insertion - Frameshift(1) breast(1) A 103,4303 0,103,2100 84 80 81 69 -2.1 0 1 dbSNP_131 81 1100,7500 82,936,3282 no coding-synonymous ATP1A4 NM_144699.3 82,1039,5382 GG,GA,AA 12.7907,2.3377,9.2496 23/1030 160121899 1203,11803 2203 4300 6503 SO:0001819 synonymous_variant BC028297 CCDS1197.1, CCDS44255.1 1q23.2 2012-10-22 2002-02-25 ENSG00000132681 ENSG00000132681 480 ATPases / P-type 14073 protein-coding gene gene with protein product sodium/potassium-transporting ATPase subunit alpha-4, sodium pump subunit alpha-4, sodium-potassium ATPase catalytic subunit alpha-4 607321 ATPase, Na+/K+ transporting, alpha polypeptide-like 2 ATP1AL2 NA 1981991, 3035563 Standard NM_144699 NM_144699 NA Approved uc001fve.4 Q13733 OTTHUMG00000031609 ENST00000368081.4:c.69A>G chr1.hg19:g.160121899A>G NA Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13 hg19 CCDS1197.1 0.02 12.478349 AAAxGGG COVERED NOVEL ATP1A4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000077415.1 5 15.94748 KEEP 0 0 0 53 1663 AA 1 1 0 + 9 60 326 0 0 19.034873 316 60 11767 484 ENST00000368081.4 0.027692 1 ATP1A4 480 __UNKNOWN__ __UNKNOWN__ 1 160146173 160146173 __UNKNOWN__ Intron SNP T T C rs881291 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:160146173T>C ENST00000368081.4 + 17 2937 ATP1A4_ENST00000418334.1_Intron NM_144699.3 NP_653300.2 Q13733 AT1A4_HUMAN ATPase, Na+/K+ transporting, alpha 4 polypeptide NA NA ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391) breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 75 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CAAGATGGATTGAGGCTGCGT 0.512 NA T||| 1484 0.296326 0.0499 0.2723 5008 , , NA 22568 0.624 NA 0.328 False NA ,,, NA NA NA 2504 0.2761 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC028297 CCDS1197.1, CCDS44255.1 1q23.2 2012-10-22 2002-02-25 ENSG00000132681 ENSG00000132681 480 ATPases / P-type 14073 protein-coding gene gene with protein product sodium/potassium-transporting ATPase subunit alpha-4, sodium pump subunit alpha-4, sodium-potassium ATPase catalytic subunit alpha-4 607321 ATPase, Na+/K+ transporting, alpha polypeptide-like 2 ATP1AL2 NA 1981991, 3035563 Standard NM_144699 NM_144699 NA Approved uc001fve.4 Q13733 OTTHUMG00000031609 ENST00000368081.4:c.2467-96T>C chr1.hg19:g.160146173T>C NA Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13 hg19 CCDS1197.1 0.02 6.079541 GATxGAG COVERED NOVEL ATP1A4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000077415.1 2 7.818944 KEEP 0 0 0 26 754 TT 0.999957 0.999957 0 + 12 60 398 0 0 26.05271 180 60 6514 242 ENST00000368081.4 0.0625 1 ATP1A4 480 __UNKNOWN__ __UNKNOWN__ 1 160151447 160151447 __UNKNOWN__ Intron SNP T T C rs79872723 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:160151447T>C ENST00000368081.4 + 19 3207 ATP1A4_ENST00000418334.1_Intron|ATP1A4_ENST00000470705.1_Intron NM_144699.3 NP_653300.2 Q13733 AT1A4_HUMAN ATPase, Na+/K+ transporting, alpha 4 polypeptide NA NA ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391) breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 75 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CTTCTGACACTGTTTCCTCTC 0.478 NA T||| 179 0.0357428 0.0023 0.0476 5008 , , NA 18766 0.1012 NA 0.0298 False NA ,,, NA NA NA 2504 0.0112 NA NA NA NA 0 T , 27,4379 32.6+/-62.9 0,27,2176 110 106 107 , -4.9 0 1 dbSNP_131 107 293,8307 107.2+/-168.0 4,285,4011 no intron,intron ATP1A4 NM_001001734.1,NM_144699.3 , 4,312,6187 CC,CT,TT 3.407,0.6128,2.4604 , , 160151447 320,12686 2203 4300 6503 SO:0001627 intron_variant BC028297 CCDS1197.1, CCDS44255.1 1q23.2 2012-10-22 2002-02-25 ENSG00000132681 ENSG00000132681 480 ATPases / P-type 14073 protein-coding gene gene with protein product sodium/potassium-transporting ATPase subunit alpha-4, sodium pump subunit alpha-4, sodium-potassium ATPase catalytic subunit alpha-4 607321 ATPase, Na+/K+ transporting, alpha polypeptide-like 2 ATP1AL2 NA 1981991, 3035563 Standard NM_144699 NM_144699 NA Approved uc001fve.4 Q13733 OTTHUMG00000031609 ENST00000368081.4:c.2737-27T>C chr1.hg19:g.160151447T>C NA Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13 hg19 CCDS1197.1 0.02 6.597101 CACxGTT COVERED NOVEL ATP1A4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000077415.1 3 7.221011 KEEP 0 0 0 24 746 TT 0.999909 0.999909 0 + 8 60 286 0 0 18.039579 181 60 6825 271 ENST00000368081.4 0.042328 1 ATP1A4 480 __UNKNOWN__ __UNKNOWN__ 1 160156027 160156027 __UNKNOWN__ Intron SNP C C G rs12131640 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:160156027C>G ENST00000368081.4 + 21 3440 ATP1A4_ENST00000470705.1_Intron NM_144699.3 NP_653300.2 Q13733 AT1A4_HUMAN ATPase, Na+/K+ transporting, alpha 4 polypeptide NA NA ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391) breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 75 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TCTGGCATCTCTCTCTCCTGC 0.517 NA g||| 1888 0.376997 0.2436 0.3314 5008 , , NA 16507 0.7054 NA 0.3529 False NA ,,, NA NA NA 2504 0.2761 NA NA NA NA 0 , 1228,3178 706.4+/-407.4 168,892,1143 192 183 186 , -5.2 0 1 dbSNP_120 186 2798,5802 677.7+/-403.4 450,1898,1952 no intron,intron ATP1A4 NM_001001734.1,NM_144699.3 , 618,2790,3095 GG,GC,CC 32.5349,27.8711,30.9549 , , 160156027 4026,8980 2203 4300 6503 SO:0001627 intron_variant BC028297 CCDS1197.1, CCDS44255.1 1q23.2 2012-10-22 2002-02-25 ENSG00000132681 ENSG00000132681 480 ATPases / P-type 14073 protein-coding gene gene with protein product sodium/potassium-transporting ATPase subunit alpha-4, sodium pump subunit alpha-4, sodium-potassium ATPase catalytic subunit alpha-4 607321 ATPase, Na+/K+ transporting, alpha polypeptide-like 2 ATP1AL2 NA 1981991, 3035563 Standard NM_144699 NM_144699 NA Approved uc001fve.4 Q13733 OTTHUMG00000031609 ENST00000368081.4:c.2970-39C>G chr1.hg19:g.160156027C>G NA Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13 hg19 CCDS1197.1 0.02 1.971724 TCTxTCT COVERED NOVEL ATP1A4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000077415.1 3 5.417217 KEEP 0 0 0 18 624 CC 0.999859 0.999754 0 + 5 60 193 0 0 13.227828 88 60 3289 131 ENST00000368081.4 0.053763 0.999895 CASQ1 844 __UNKNOWN__ __UNKNOWN__ 1 160160587 160160587 __UNKNOWN__ Missense_Mutation SNP C C T rs371555372 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:160160587C>T ENST00000368078.3 + 1 242 c.46C>T c.(46-48)Cgg>Tgg p.R16W CASQ1_ENST00000368079.3_Missense_Mutation_p.R10W P31415 CASQ1_HUMAN calsequestrin 1 (fast-twitch, skeletal muscle) 16 Poly-Leu. NA endoplasmic reticulum organization (GO:0007029)|ion transmembrane transport (GO:0034220)|protein polymerization (GO:0051258)|regulation of sequestering of calcium ion (GO:0051282)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to heat (GO:0009408)|response to organic substance (GO:0010033)|sarcomere organization (GO:0045214)|skeletal muscle tissue development (GO:0007519)|transmembrane transport (GO:0055085) endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna lumen (GO:0014804) calcium ion binding (GO:0005509) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1) 21 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GCCGGGTCTGCGGCTGGCACT 0.612 NA NA NA NA NA NA NA NA NA NA NA 0 C TRP/ARG 0,4406 0,0,2203 64 57 59 46 0.2 1 1 59 1,8599 1.2+/-3.3 0,1,4299 no missense CASQ1 NM_001231.4 101 0,1,6502 TT,TC,CC 0.0116,0.0,0.0077 probably-damaging 16/397 160160587 1,13005 2203 4300 6503 SO:0001583 missense S73775 CCDS1198.1, CCDS1198.2 1q21 2011-10-19 ENSG00000143318 ENSG00000143318 844 Protein disulfide isomerases 1512 protein-coding gene gene with protein product calsequestrin 1, fast-twitch, skeletal muscle, calmitine 114250 CASQ NA 8406504, 2321095 Standard NM_001231 NM_001231 NA Approved PDIB1 uc010pja.2 P31415 OTTHUMG00000031607 ENST00000368078.3:c.46C>T chr1.hg19:g.160160587C>T ENSP00000357057:p.Arg16Trp NA B1AKZ2|B2R863|Q8TBW7 hg19 CCDS1198.2 0.02 7.669998 CTGxGGC COVERED . . . . . . . . . . C 13.22 2.173290 0.38413 0.0 1.16E-4 ENSG00000143318 ENST00000368079;ENST00000368078 T;T 0.74421 -0.84;-0.84 3.58 0.189 0.15119 . 0.626027 0.15356 N 0.266654 T 0.25419 0.0618 N 0.08118 0 0.25734 N 0.985232 B 0.02656 0.0 B 0.01281 0.0 T 0.15867 -1.0422 10 0.66056 D 0.02 . 0.4103 0.00440 0.1868:0.3107:0.1835:0.319 . 16 P31415 CASQ1_HUMAN W 10;16 ENSP00000357058:R10W;ENSP00000357057:R16W ENSP00000357057:R16W R + 1 2 CASQ1 158427211 1.000000 0.71417 0.986000 0.45419 0.566000 0.35808 0.726000 0.25984 0.179000 0.19938 -0.744000 0.03518 CGG NOVEL CASQ1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000077412.1 4 20.16506 KEEP 0 0 0 67 2334 CC 1 1 0 + 8 60 280 0 0 16.467324 241 60 8591 398 ENST00000368078.3 0.032129 1 CASQ1 844 __UNKNOWN__ __UNKNOWN__ 1 160168368 160168368 __UNKNOWN__ Intron SNP G G A rs822450 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:160168368G>A ENST00000368078.3 + 8 1024 CASQ1_ENST00000368079.3_Intron|CASQ1_ENST00000467691.1_Intron P31415 CASQ1_HUMAN calsequestrin 1 (fast-twitch, skeletal muscle) NA NA endoplasmic reticulum organization (GO:0007029)|ion transmembrane transport (GO:0034220)|protein polymerization (GO:0051258)|regulation of sequestering of calcium ion (GO:0051282)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to heat (GO:0009408)|response to organic substance (GO:0010033)|sarcomere organization (GO:0045214)|skeletal muscle tissue development (GO:0007519)|transmembrane transport (GO:0055085) endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna lumen (GO:0014804) calcium ion binding (GO:0005509) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1) 21 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) ACAAAATTGAGGTTCAATGAA 0.423 NA G||| 1631 0.325679 0.0877 0.3977 5008 , , NA 21736 0.5476 NA 0.4264 False NA ,,, NA NA NA 2504 0.2638 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant S73775 CCDS1198.1, CCDS1198.2 1q21 2011-10-19 ENSG00000143318 ENSG00000143318 844 Protein disulfide isomerases 1512 protein-coding gene gene with protein product calsequestrin 1, fast-twitch, skeletal muscle, calmitine 114250 CASQ NA 8406504, 2321095 Standard NM_001231 NM_001231 NA Approved PDIB1 uc010pja.2 P31415 OTTHUMG00000031607 ENST00000368078.3:c.829-99G>A chr1.hg19:g.160168368G>A NA B1AKZ2|B2R863|Q8TBW7 hg19 CCDS1198.2 0.02 7.96871 TGAxGTT COVERED NOVEL CASQ1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000077412.1 3 10.534515 KEEP 0 0 0 35 1254 GG 0.999999 0.999999 0 + 11 60 390 0 0 24.687666 238 60 9022 312 ENST00000368078.3 0.044177 1 CASQ1 844 __UNKNOWN__ __UNKNOWN__ 1 160171187 160171187 __UNKNOWN__ 3'UTR SNP C C T rs562119640 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:160171187C>T ENST00000368078.3 + 0 1408 CASQ1_ENST00000368079.3_3'UTR|CASQ1_ENST00000467691.1_3'UTR P31415 CASQ1_HUMAN calsequestrin 1 (fast-twitch, skeletal muscle) NA NA endoplasmic reticulum organization (GO:0007029)|ion transmembrane transport (GO:0034220)|protein polymerization (GO:0051258)|regulation of sequestering of calcium ion (GO:0051282)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to heat (GO:0009408)|response to organic substance (GO:0010033)|sarcomere organization (GO:0045214)|skeletal muscle tissue development (GO:0007519)|transmembrane transport (GO:0055085) endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna lumen (GO:0014804) calcium ion binding (GO:0005509) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1) 21 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) AACCATCTTTCAGCCCCACTG 0.532 NA C||| 19 0.00379393 0.0 0.0 5008 , , NA 17406 0.0179 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 152 124 134 NA NA 1 NA 160171187 2203 4300 6503 SO:0001624 3_prime_UTR_variant S73775 CCDS1198.1, CCDS1198.2 1q21 2011-10-19 ENSG00000143318 ENSG00000143318 844 Protein disulfide isomerases 1512 protein-coding gene gene with protein product calsequestrin 1, fast-twitch, skeletal muscle, calmitine 114250 CASQ NA 8406504, 2321095 Standard NM_001231 NM_001231 NA Approved PDIB1 uc010pja.2 P31415 OTTHUMG00000031607 ENST00000368078.3:c.*21C>T chr1.hg19:g.160171187C>T NA B1AKZ2|B2R863|Q8TBW7 hg19 CCDS1198.2 0.02 24.016904 TTTxAGC COVERED NOVEL CASQ1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000077412.1 1 31.301158 KEEP 0 0 0 104 3673 CC 1 1 0 + 22 60 789 1 0 49.25864 531 60 20285 814 ENST00000368078.3 0.039783 1 PEA15 8682 __UNKNOWN__ __UNKNOWN__ 1 160178376 160178376 __UNKNOWN__ Intron SNP C C G rs3789040 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:160178376C>G ENST00000360472.4 + 2 186 PEA15_ENST00000368076.1_5'UTR|PEA15_ENST00000368077.1_Intron|RP11-536C5.7_ENST00000418602.1_RNA NM_003768.3 NP_003759.1 Q15121 PEA15_HUMAN phosphoprotein enriched in astrocytes 15 NA NA apoptotic process (GO:0006915)|carbohydrate transport (GO:0008643)|DNA damage checkpoint (GO:0000077)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of glucose import (GO:0046325)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|response to morphine (GO:0043278)|transport (GO:0006810) cytoplasm (GO:0005737)|microtubule associated complex (GO:0005875) large_intestine(1)|lung(4) 5 all_cancers(52;3.11e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) AAATCTGAATCTCTGGTGAGG 0.527 NA c||| 199 0.0397364 0.0083 0.013 5008 , , NA 18606 0.0933 NA 0.0239 False NA ,,, NA NA NA 2504 0.0624 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Y13736 CCDS1199.1, CCDS72954.1 1q21.1 2008-07-18 ENSG00000162734 ENSG00000162734 8682 8822 protein-coding gene gene with protein product Phosphoprotein enriched in astrocytes, 15kD, homolog of mouse MAT-1 oncogene 603434 NA 9205133 Standard NM_003768 XM_005245564 NA Approved HMAT1, MAT1, PED, PEA-15, MAT1H, HUMMAT1H uc001fvk.3 Q15121 OTTHUMG00000031605 ENST00000360472.4:c.-2-2957C>G chr1.hg19:g.160178376C>G NA B1AKZ3|O00511 hg19 CCDS1199.1 0.02 9.68114 AATxTCT COVERED NOVEL PEA15-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000077407.1 2 33.407694 KEEP 0 0 0 111 3946 CC 1 1 0 + 7 60 276 0 0 17.585462 205 60 7923 422 ENST00000360472.4 0.033019 1 PEX19 5824 __UNKNOWN__ __UNKNOWN__ 1 160246704 160246704 __UNKNOWN__ 3'UTR SNP C C T rs41265787 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:160246704C>T ENST00000368072.5 - 0 3558 DCAF8_ENST00000556710.1_Intron|DCAF8_ENST00000608310.1_Intron NM_001193644.1|NM_002857.3 NP_001180573.1|NP_002848.1 P40855 PEX19_HUMAN peroxisomal biogenesis factor 19 NA NA chaperone-mediated protein folding (GO:0061077)|chaperone-mediated protein transport (GO:0072321)|establishment of protein localization to peroxisome (GO:0072663)|negative regulation of lipid binding (GO:1900131)|peroxisome fission (GO:0016559)|peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome membrane (GO:0045046)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)|transmembrane transport (GO:0055085) brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234) ATPase binding (GO:0051117)|peroxisome membrane class-1 targeting sequence binding (GO:0036105)|protein N-terminus binding (GO:0047485) cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2) 11 all_cancers(52;1.27e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GGAGCAACTCCTTTAAAGTTT 0.313 NA C||| 217 0.0433307 0.0227 0.0144 5008 , , NA 20379 0.0923 NA 0.0239 False NA ,,, NA NA NA 2504 0.0613 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Y09048 CCDS1201.1 1q22 2008-07-18 2004-03-17 2004-03-19 ENSG00000162735 ENSG00000162735 5824 9713 protein-coding gene gene with protein product housekeeping gene, 33kD 600279 peroxisomal farnesylated protein PXF NA 9339377, 10051604 Standard NM_002857 NM_002857 NA Approved HK33, D1S2223E, PMP1, PMPI, PXMP1 P40855 OTTHUMG00000033112 ENST00000368072.5:c.*2637G>A chr1.hg19:g.160246704C>T NA D3DVE7|Q5QNY4|Q8NI97 hg19 CCDS1201.1 0.02 4.214278 CTCxTTT COVERED NOVEL PEX19-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000080642.2 1 6.320672 KEEP 0 0 0 21 755 CC 0.999869 0.999868 0 - 7 60 257 0 0 17.428929 114 60 4303 177 ENST00000368072.5 0.057851 0.999999 NCSTN 23385 __UNKNOWN__ __UNKNOWN__ 1 160327865 160327865 __UNKNOWN__ Intron SNP C C T rs41266887 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:160327865C>T ENST00000294785.5 + 17 2132 NCSTN_ENST00000368063.1_Intron|NCSTN_ENST00000368065.4_Intron|NCSTN_ENST00000535857.1_Intron|NCSTN_ENST00000392212.4_Intron NM_015331.2 NP_056146.1 Q92542 NICA_HUMAN nicastrin NA NA amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|myeloid cell homeostasis (GO:0002262)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)|proteolysis (GO:0006508)|T cell proliferation (GO:0042098) endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886) endopeptidase activity (GO:0004175) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2) 34 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CTCCAAACCCCAAACAGTTAT 0.507 NA C||| 230 0.0459265 0.0545 0.0159 5008 , , NA 19683 0.0764 NA 0.0159 False NA ,,, NA NA NA 2504 0.0552 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF240468 CCDS1203.1 1q22-q23 2014-09-17 ENSG00000162736 ENSG00000162736 23385 17091 protein-coding gene gene with protein product 605254 NA 9039502, 10993067 Standard NM_015331 XM_005245053 NA Approved KIAA0253, APH2 uc001fvx.3 Q92542 OTTHUMG00000033110 ENST00000294785.5:c.2008-74C>T chr1.hg19:g.160327865C>T NA Q5T207|Q5T208|Q86VV5 hg19 CCDS1203.1 0.02 3.991588 CCCxAAA COVERED NOVEL NCSTN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000080622.1 1 5.116074 KEEP 0 0 0 17 588 CC 0.999366 0.999366 0 + 6 60 221 0 0 14.306406 129 60 4779 183 ENST00000294785.5 0.044444 1 SLAMF6 114836 __UNKNOWN__ __UNKNOWN__ 1 160455576 160455576 __UNKNOWN__ 3'UTR SNP A A G rs149534223 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:160455576A>G ENST00000368057.3 - 0 1980 SLAMF6_ENST00000368059.3_3'UTR Q96DU3 SLAF6_HUMAN SLAM family member 6 NA NA extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) receptor activity (GO:0004872) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4) 22 all_cancers(52;1.05e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0923) agaggtggtgatggttggata 0.473 NA A||| 159 0.0317492 0.0 0.0 5008 , , NA 20206 0.1022 NA 0.0 False NA ,,, NA NA NA 2504 0.0573 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL832854 CCDS1205.1, CCDS53393.1, CCDS53394.1 1q23.1 2013-01-29 ENSG00000162739 ENSG00000162739 114836 CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 21392 protein-coding gene gene with protein product 606446 NA 11489943 Standard NM_052931 NM_052931 NA Approved KALI, NTBA, KALIb, Ly108, SF2000, NTB-A, CD352 uc001fwe.2 Q96DU3 OTTHUMG00000022729 ENST00000368057.3:c.*921T>C chr1.hg19:g.160455576A>G NA A6NMW2|B2R8X8|Q14CF0|Q5TAS4|Q5TAS6|Q5TAT3|Q96DV0 hg19 CCDS53394.1 0.02 4.119021 GTGxTGG COVERED NOVEL SLAMF6-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000059010.1 1 4.813582 KEEP 0 0 0 16 478 AA 0.997832 0.997831 0 - 7 60 258 0 0 17.306364 123 60 4445 180 ENST00000368057.3 0.053846 1 ITLN2 142683 __UNKNOWN__ __UNKNOWN__ 1 160924426 160924426 __UNKNOWN__ Intron SNP G G A rs12401642 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:160924426G>A ENST00000368029.3 - 1 73 NM_080878.2 NP_543154.1 Q8WWU7 ITLN2_HUMAN intelectin 2 NA NA extracellular region (GO:0005576) carbohydrate binding (GO:0030246) endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1) 19 all_cancers(52;2.99e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) GGGGCCATGGGCTCATTTCCC 0.468 NA G||| 620 0.123802 0.0461 0.1715 5008 , , NA 20445 0.1845 NA 0.0755 False NA ,,, NA NA NA 2504 0.182 NA NA NA NA 0 G 77,1307 1,75,616 50 42 45 0.1 0 1 dbSNP_120 45 239,2943 15,209,1367 no intron ITLN2 NM_080878.2 16,284,1983 AA,AG,GG 7.511,5.5636,6.9207 160924426 316,4250 692 1591 2283 SO:0001627 intron_variant AY065973 CCDS1212.1 1q22-q23.5 2013-02-06 ENSG00000158764 ENSG00000158764 142683 Fibrinogen C domain containing 20599 protein-coding gene gene with protein product 609874 NA 11181563 Standard NM_080878 NM_080878 NA Approved HL-2 uc001fxd.3 Q8WWU7 OTTHUMG00000028605 ENST00000368029.3:c.15+90C>T chr1.hg19:g.160924426G>A NA Q17RR2|Q5VYI0 hg19 CCDS1212.1 0.02 12.106743 TGGxCTC COVERED NOVEL ITLN2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000071465.1 3 14.099886 KEEP 0 0 0 47 1640 GG 1 1 0 - 12 60 412 0 0 24.72267 310 60 11301 435 ENST00000368029.3 0.037267 1 ARHGAP30 257106 __UNKNOWN__ __UNKNOWN__ 1 161019040 161019040 __UNKNOWN__ Missense_Mutation SNP G G C rs3813609 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:161019040G>C ENST00000368013.3 - 12 2091 c.1771C>G c.(1771-1773)Ctg>Gtg p.L591V ARHGAP30_ENST00000368016.3_Missense_Mutation_p.L591V|ARHGAP30_ENST00000368015.1_Missense_Mutation_p.L414V NM_001025598.1|NM_181720.2 NP_001020769.1|NP_859071.2 Q7Z6I6 RHG30_HUMAN Rho GTPase activating protein 30 591 NA L -> V (in dbSNP:rs3813609). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005}. regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231) GTPase activator activity (GO:0005096) breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) GCGGAGTCCAGGGAACAGCAG 0.567 NA G||| 1983 0.395966 0.1815 0.4654 5008 , , NA 21362 0.3333 NA 0.6292 False NA ,,, NA NA NA 2504 0.4611 NA NA NA NA 0 G VAL/LEU,VAL/LEU 1158,3248 410.6+/-335.4 145,868,1190 94 101 99 1771,1771 1.1 0.5 1 dbSNP_107 99 5222,3378 640.6+/-399.6 1560,2102,638 yes missense,missense ARHGAP30 NM_001025598.1,NM_181720.2 32,32 1705,2970,1828 CC,CG,GG 39.2791,26.2823,49.0543 benign,benign 591/1102,591/891 161019040 6380,6626 2203 4300 6503 SO:0001583 missense AL832852 CCDS1215.1, CCDS30918.1, CCDS72958.1 1q23.3 2011-06-29 ENSG00000186517 ENSG00000186517 257106 Rho GTPase activating proteins 27414 protein-coding gene gene with protein product 614264 NA Standard NM_181720 NM_001287602 NA Approved FLJ00267 uc001fxl.3 Q7Z6I6 OTTHUMG00000031477 ENST00000368013.3:c.1771C>G chr1.hg19:g.161019040G>C ENSP00000356992:p.Leu591Val NA Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7 hg19 CCDS30918.1 0.02 18.182116 CCAxGGA COVERED 939 0.42994505494505497 101 0.20528455284552846 173 0.47790055248618785 191 0.3339160839160839 474 0.6253298153034301 G 9.123 1.009373 0.19277 0.262823 0.607209 ENSG00000186517 ENST00000368016;ENST00000368013;ENST00000368017;ENST00000368015 T;T;T 0.35421 2.92;2.84;1.31 5.18 1.1 0.20463 . 1.038190 0.07683 N 0.937368 T 0.10594 0.0259 L 0.59436 1.845 0.58432 P 1.999999999946489E-6 B;P 0.41848 0.361;0.763 B;B 0.39027 0.081;0.288 T 0.18935 -1.0321 9 0.10902 T 0.67 . 1.7083 0.02887 0.2435:0.1391:0.4746:0.1429 rs3813609;rs52800561;rs3813609 591;591 Q7Z6I6;Q7Z6I6-2 RHG30_HUMAN;. V 591;591;443;414 ENSP00000356995:L591V;ENSP00000356992:L591V;ENSP00000356994:L414V ENSP00000356992:L591V L - 1 2 ARHGAP30 159285664 0.983000 0.35010 0.518000 0.27811 0.941000 0.58515 2.269000 0.43346 -0.047000 0.13423 -0.266000 0.10368 CTG NOVEL ARHGAP30-007 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000077090.2 0 18.697991 KEEP 0 1 37 75 2713 GG 1 1 0 - 18 60 661 0 0 42.358504 406 60 15335 610 ENST00000368013.3 0.042453 1 PVRL4 81607 __UNKNOWN__ __UNKNOWN__ 1 161059099 161059099 __UNKNOWN__ 5'UTR SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:161059099G>A ENST00000368012.3 - 0 290 NM_030916.2 NP_112178.2 Q96NY8 PVRL4_HUMAN poliovirus receptor-related 4 NA NA adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032) cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1) 20 all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) TTGAAAGGCAGACTGCCCAGC 0.577 NA NA NA NA NA NA NA NA NA NA NSCLC(76;1160 1387 14476 16172 29359) NA 0 99 92 95 NA NA 1 NA 161059099 2203 4300 6503 SO:0001623 5_prime_UTR_variant AF426163 CCDS1216.1 1q22-q23.2 2013-01-14 ENSG00000143217 ENSG00000143217 81607 Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing 19688 protein-coding gene gene with protein product 609607 NA 11544254 Standard NM_030916 NM_030916 NA Approved nectin-4, PRR4, LNIR uc001fxo.2 Q96NY8 OTTHUMG00000031475 ENST00000368012.3:c.-13C>T chr1.hg19:g.161059099G>A NA B4DQW3|Q96K15 hg19 CCDS1216.1 0.02 4.094855 GCAxACT COVERED NOVEL PVRL4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000077074.1 3 4.514257 KEEP 0 0 0 15 509 GG 0.99649 0.99649 0 - 6 60 221 0 0 14.098567 140 60 5220 174 ENST00000368012.3 0.041096 1 PVRL4 81607 __UNKNOWN__ __UNKNOWN__ 1 161059183 161059183 __UNKNOWN__ 5'UTR SNP G G A rs117365153 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:161059183G>A ENST00000368012.3 - 0 206 NM_030916.2 NP_112178.2 Q96NY8 PVRL4_HUMAN poliovirus receptor-related 4 NA NA adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032) cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1) 20 all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) CAGAAGGCAGGAAGCTGCAGA 0.602 NA G||| 83 0.0165735 0.0 0.0 5008 , , NA 16398 0.0784 NA 0.0 False NA ,,, NA NA NA 2504 0.0041 NA NA NA NSCLC(76;1160 1387 14476 16172 29359) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF426163 CCDS1216.1 1q22-q23.2 2013-01-14 ENSG00000143217 ENSG00000143217 81607 Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing 19688 protein-coding gene gene with protein product 609607 NA 11544254 Standard NM_030916 NM_030916 NA Approved nectin-4, PRR4, LNIR uc001fxo.2 Q96NY8 OTTHUMG00000031475 ENST00000368012.3:c.-97C>T chr1.hg19:g.161059183G>A NA B4DQW3|Q96K15 hg19 CCDS1216.1 0.02 5.582676 CAGxAAG COVERED NOVEL PVRL4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000077074.1 2 13.544012 KEEP 0 0 0 45 1580 GG 1 1 0 - 10 60 341 0 0 21.826464 182 60 6594 264 ENST00000368012.3 0.052083 1 KLHDC9 126823 __UNKNOWN__ __UNKNOWN__ 1 161068836 161068836 __UNKNOWN__ Missense_Mutation SNP A A C rs11576830 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:161068836A>C ENST00000368011.4 + 1 653 c.511A>C c.(511-513)Agc>Cgc p.S171R KLHDC9_ENST00000490724.2_3'UTR|KLHDC9_ENST00000392192.2_Missense_Mutation_p.S171R NM_152366.4 NP_689579.3 Q8NEP7 KLDC9_HUMAN kelch domain containing 9 171 NA S -> R (in dbSNP:rs11576830). lung(5)|upper_aerodigestive_tract(1) 6 all_cancers(52;1.28e-19)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) GCTGGACCCCAGCGCCCGCAC 0.547 NA A||| 1198 0.239217 0.0666 0.2968 5008 , , NA 17390 0.371 NA 0.339 False NA ,,, NA NA NA 2504 0.1933 NA NA NA NA 0 A ARG/SER,ARG/SER 407,3983 25,357,1813 19 16 17 511,511 -7.1 0 1 dbSNP_120 17 2416,6142 349,1718,2212 yes missense,missense KLHDC9 NM_001007255.2,NM_152366.4 110,110 374,2075,4025 CC,CA,AA 28.2309,9.2711,21.8026 benign,benign 171/289,171/350 161068836 2823,10125 2195 4279 6474 SO:0001583 missense BC022077 CCDS30919.1, CCDS41425.1 1q23.3 2008-02-05 ENSG00000162755 ENSG00000162755 126823 28489 protein-coding gene gene with protein product kelch/ankyrin repeat containing cyclin A1 interacting protein NA 15159402 Standard NM_152366 NM_152366 NA Approved KARCA1 uc001fxr.3 Q8NEP7 OTTHUMG00000031479 ENST00000368011.4:c.511A>C chr1.hg19:g.161068836A>C ENSP00000356990:p.Ser171Arg NA Q5SY56|Q6NXT9|Q6PKN4|Q8N5E1|Q8NA16 hg19 CCDS30919.1 0.02 17.861007 CCCxGCG COVERED 634 0.2902930402930403 43 0.08739837398373984 106 0.292817679558011 227 0.3968531468531469 258 0.3403693931398417 A 0.798 -0.756295 0.03019 0.092711 0.282309 ENSG00000162755 ENST00000368011;ENST00000392192 T;T 0.74002 -0.8;-0.22 4.99 -7.07 0.01563 Galactose oxidase/kelch, beta-propeller (1);Kelch-type beta propeller (1); 1.125250 0.06857 N 0.798341 T 0.26048 0.0635 N 0.12182 0.205 0.80722 P 0.0 B;B 0.02656 0.0;0.0 B;B 0.04013 0.001;0.0 T 0.04229 -1.0967 9 0.15952 T 0.53 -37.5668 8.4665 0.32960 0.626:0.2163:0.1577:0.0 rs11576830;rs58900348;rs11576830 171;171 Q8NEP7-2;Q8NEP7 .;KLDC9_HUMAN R 171 ENSP00000356990:S171R;ENSP00000376030:S171R ENSP00000356990:S171R S + 1 0 KLHDC9 159335460 0.000000 0.05858 0.012000 0.15200 0.021000 0.10359 -1.087000 0.03383 -0.975000 0.03546 -0.313000 0.08912 AGC NOVEL KLHDC9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000077092.1 1 47.241358 KEEP 0 0 0 157 4901 AA 1 1 0 + 17 60 557 0 0 32.467313 455 60 16716 784 ENST00000368011.4 0.036017 1 APOA2 336 __UNKNOWN__ __UNKNOWN__ 1 161192316 161192316 __UNKNOWN__ Intron SNP G G A rs6413453 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:161192316G>A ENST00000367990.3 - 4 243 APOA2_ENST00000463812.1_Intron|APOA2_ENST00000464492.1_Intron|APOA2_ENST00000470459.2_Intron|APOA2_ENST00000468465.1_Intron|APOA2_ENST00000491350.1_Intron NM_001643.1 NP_001634.1 P02652 APOA2_HUMAN apolipoprotein A-II NA NA acute inflammatory response (GO:0002526)|cellular lipid metabolic process (GO:0044255)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|high-density lipoprotein particle assembly (GO:0034380)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol import (GO:0060621)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of cholesterol transporter activity (GO:0060695)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of lipase activity (GO:0060192)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of very-low-density lipoprotein particle remodeling (GO:0010903)|organ regeneration (GO:0031100)|peptidyl-methionine modification (GO:0018206)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid catabolic process (GO:0009395)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of lipid catabolic process (GO:0050996)|protein folding (GO:0006457)|protein oxidation (GO:0018158)|regulation of intestinal cholesterol absorption (GO:0030300)|regulation of protein stability (GO:0031647)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|viral process (GO:0016032) blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361) apolipoprotein receptor binding (GO:0034190)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor binding (GO:0070653)|lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|phosphatidylcholine binding (GO:0031210)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|phospholipid binding (GO:0005543)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803) endometrium(1)|large_intestine(1)|lung(2)|skin(2) 6 all_cancers(52;1.86e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) GTAAGACCTGGATAGGTGAGG 0.517 NA G||| 516 0.103035 0.0121 0.0735 5008 , , NA 19677 0.1696 NA 0.1083 False NA ,,, NA NA NA 2504 0.1728 NA NA NA NA 0 G 136,4270 98.5+/-137.1 1,134,2068 167 159 162 2 0.3 1 dbSNP_116 162 933,7667 205.8+/-248.1 61,811,3428 no intron APOA2 NM_001643.1 62,945,5496 AA,AG,GG 10.8488,3.0867,8.2193 161192316 1069,11937 2203 4300 6503 SO:0001627 intron_variant CCDS1226.1 1q23.3 2013-01-24 ENSG00000158874 ENSG00000158874 336 Apolipoproteins 601 protein-coding gene gene with protein product 107670 NA 2415515 Standard NM_001643 NM_001643 NA Approved uc001fzc.1 P02652 OTTHUMG00000034346 ENST00000367990.3:c.186-4C>T chr1.hg19:g.161192316G>A NA B2R524 hg19 CCDS1226.1 0.02 4.14415 CTGxATA COVERED NOVEL APOA2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000083037.1 1 12.640244 KEEP 0 0 0 42 1443 GG 1 1 0 - 5 60 178 0 0 11.007582 124 60 4631 199 ENST00000367990.3 0.03876 1 NR1I3 9970 __UNKNOWN__ __UNKNOWN__ 1 161205898 161205898 __UNKNOWN__ Intron SNP G G T rs6686001 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:161205898G>T ENST00000515621.1 - 3 130 NR1I3_ENST00000512372.1_Intron|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000367979.2_Intron|NR1I3_ENST00000506209.1_Intron|NR1I3_ENST00000367985.3_Intron|NR1I3_ENST00000511676.1_Intron|NR1I3_ENST00000367980.2_Intron|NR1I3_ENST00000437437.2_Intron|NR1I3_ENST00000367984.4_Intron|NR1I3_ENST00000505005.1_Intron|NR1I3_ENST00000511944.1_Intron|NR1I3_ENST00000367983.4_Intron|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000412844.2_Intron|NR1I3_ENST00000428574.2_Intron|NR1I3_ENST00000515452.1_Intron|NR1I3_ENST00000502985.1_Intron|NR1I3_ENST00000367982.4_Intron|NR1I3_ENST00000442691.2_Intron|NR1I3_ENST00000508740.1_Intron|NR1I3_ENST00000504010.1_Intron|NR1I3_ENST00000367981.3_Intron Q14994 NR1I3_HUMAN nuclear receptor subfamily 1, group I, member 3 NA NA androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) androgen receptor activity (GO:0004882)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270) endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1) 15 all_cancers(52;1.86e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) GGTCCCCAGGGGTGGATAGTA 0.493 NA G||| 668 0.133387 0.0136 0.1037 5008 , , NA 22763 0.2262 NA 0.167 False NA ,,, NA NA NA 2504 0.1861 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Z30425 CCDS1228.1, CCDS41427.1, CCDS41428.1, CCDS41429.1, CCDS41430.1, CCDS44260.1, CCDS44261.1, CCDS44262.1, CCDS53405.1, CCDS53406.1, CCDS53407.1, CCDS53408.1, CCDS53409.1, CCDS53410.1, CCDS53411.1 1q23.3 2013-01-16 ENSG00000143257 ENSG00000143257 9970 Nuclear hormone receptors 7969 protein-coding gene gene with protein product constitutive androstane receptor 603881 NA 8114692 Standard NM_001077480 NA Approved MB67, CAR1, CAR uc001fzp.3 Q14994 OTTHUMG00000034347 ENST00000515621.1:c.118-131C>A chr1.hg19:g.161205898G>T NA E9PB75|E9PC13|E9PDU3|E9PGH6|E9PH10|E9PHC8|E9PHN4|F1D8Q0|F1D8Q1|Q0VAC9|Q4U0F0|Q5VTW5|Q5VTW6|Q6GZ68|Q6GZ76|Q6GZ77|Q6GZ78|Q6GZ79|Q6GZ82|Q6GZ83|Q6GZ84|Q6GZ85|Q6GZ87|Q6GZ89 hg19 0.02 1.877377 AGGxGTG COVERED NOVEL NR1I3-021 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000359180.1 2 3.009057 KEEP 0 0 0 10 319 GG 0.992708 0.99203 0 - 6 60 220 0 0 15.576069 75 60 2669 95 ENST00000515621.1 0.074074 0.999317 FCGR2A 2212 __UNKNOWN__ __UNKNOWN__ 1 161475762 161475762 __UNKNOWN__ Intron SNP T T G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:161475762T>G ENST00000271450.6 + 2 123 FCGR2A_ENST00000367972.4_Intron NM_001136219.1|NM_021642.3 NP_001129691.1|NP_067674.2 P12318 FCG2A_HUMAN Fc fragment of IgG, low affinity IIa, receptor (CD32) NA NA Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1) 19 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) TGATCCACTCTCTTCTCTTTT 0.473 NA NA NA NA NA NA NA NA NA NA NA 0 453 432 439 NA NA 1 NA 161475762 2203 4300 6503 SO:0001627 intron_variant J03619 CCDS30922.1, CCDS44264.1 1q23 2013-01-11 2005-02-02 ENSG00000143226 ENSG00000143226 2212 CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 3616 protein-coding gene gene with protein product Immunoglobulin G Fc receptor II 146790 Fc fragment of IgG, low affinity IIa, receptor for (CD32) FCG2, FCGR2A1, FCGR2 NA 2139735 Standard NM_021642 NM_021642 NA Approved CD32, CD32A, IGFR2, CDw32 uc001gan.3 P12318 OTTHUMG00000034469 ENST00000271450.6:c.86-15T>G chr1.hg19:g.161475762T>G NA Q8WUN1|Q8WW64 hg19 CCDS44264.1 0.02 6.686967 CTCxCTT COVERED NOVEL FCGR2A-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000083318.3 1 6.918745 KEEP 0 0 0 23 723 TT 0.999892 0.999892 0 + 6 60 213 0 0 13.111086 151 60 5558 205 ENST00000271450.6 0.038217 1 HSPA6 3310 __UNKNOWN__ __UNKNOWN__ 1 161494127 161494127 __UNKNOWN__ 5'UTR SNP G G C rs41297686 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:161494127G>C ENST00000309758.4 + 0 92 RP11-25K21.6_ENST00000537821.2_RNA NM_002155.3 NP_002146.2 P17066 HSP76_HUMAN heat shock 70kDa protein 6 (HSP70B') NA NA ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986) blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082) endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2) 21 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) GCCCAGCCTCGCGGCTCATGC 0.711 NA g||| 529 0.105631 0.0825 0.0519 5008 , , NA 11379 0.1815 NA 0.0805 False NA ,,, NA NA NA 2504 0.1227 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant CCDS1231.1 1q23.3 2011-09-02 2002-08-29 ENSG00000173110 ENSG00000173110 3310 Heat shock proteins / HSP70 5239 protein-coding gene gene with protein product 140555 heat shock 70kD protein 6 (HSP70B') NA 1346391 Standard NM_002155 NM_002155 NA Approved uc001gaq.3 P17066 OTTHUMG00000034461 ENST00000309758.4:c.-322G>C chr1.hg19:g.161494127G>C NA Q1HBA8|Q8IYK7|Q9BT95 hg19 CCDS1231.1 0.02 11.335661 CTCxCGG COVERED NOVEL HSPA6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000083308.1 2 71.538912 KEEP 0 0 0 238 7996 GG 1 1 0 + 11 60 398 0 0 25.247876 251 60 8303 684 ENST00000309758.4 0.041985 1 FCGR2B 2213 __UNKNOWN__ __UNKNOWN__ 1 161561151 161561151 __UNKNOWN__ Intron SNP G G A rs74341264 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:161561151G>A ENST00000403078.3 + 2 260 FCGR2C_ENST00000466542.2_RNA|RP11-25K21.6_ENST00000537821.2_RNA|FCGR2B_ENST00000367962.4_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000428605.2_Intron|FCGR3A_ENST00000540048.1_Intron|FCGR2C_ENST00000473530.2_RNA P31994 FCG2B_HUMAN Fc fragment of IgG, low affinity IIb, receptor (CD32) NA NA immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|viral process (GO:0016032) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) NA all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Antithymocyte globulin(DB00098)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) TAGGCTACACGCTGTACTCAT 0.512 NA T ? ALL .||| 996 0.198882 0.1573 0.1542 5008 , , NA 20723 0.4067 NA 0.0944 False NA ,,, NA NA NA 2504 0.18 NA NA NA Dom yes 1 1q23 2213 Fc fragment of IgG, low affinity IIb, receptor for (CD32) L 0 G 628,3706 107,414,1646 43 36 39 609 -2 0 1 dbSNP_131 39 524,7808 72,380,3714 no coding-synonymous FCGR2C NM_201563.4 179,794,5360 AA,AG,GG 6.289,14.4901,9.0952 203/324 161561151 1152,11514 2167 4166 6333 SO:0001627 intron_variant BC031992 CCDS30924.1, CCDS30925.1, CCDS53414.1 1q23 2013-01-11 2005-02-02 ENSG00000072694 ENSG00000072694 2213 CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 3618 protein-coding gene gene with protein product 604590 Fc fragment of IgG, low affinity IIb, receptor for (CD32) FCG2, FCGR2 NA 2139735 Standard NM_004001 NM_004001 NA Approved CD32, CD32B uc001gaz.2 P31994 OTTHUMG00000034470 ENST00000403078.3:c.133+2919G>A chr1.hg19:g.161561151G>A NA A6H8N3|O95649|Q53X85|Q5VXA9|Q8NIA1 hg19 0.02 6.902406 CACxCTG COVERED NOVEL FCGR2B-203 KNOWN basic|appris_principal protein_coding NA protein_coding 1 22.529938 KEEP 111 0 0 75 2524 GG 0.999999 0.999999 0 + 10 60 353 0 0 23.403947 168 60 5906 407 ENST00000403078.3 0.05618 1 FCGR2B 2213 __UNKNOWN__ __UNKNOWN__ 1 161565408 161565408 __UNKNOWN__ Intron SNP T T C rs114010589 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:161565408T>C ENST00000403078.3 + 2 260 FCGR2C_ENST00000466542.2_RNA|RP11-25K21.6_ENST00000537821.2_RNA|FCGR2B_ENST00000367962.4_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000428605.2_Intron|FCGR2C_ENST00000543859.1_RNA|FCGR3A_ENST00000540048.1_Intron|FCGR2C_ENST00000473530.2_RNA P31994 FCG2B_HUMAN Fc fragment of IgG, low affinity IIb, receptor (CD32) NA NA immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|viral process (GO:0016032) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) NA all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Antithymocyte globulin(DB00098)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) TCTCCTTTTCTTCCTGCCTTG 0.458 NA T ? ALL .||| 1060 0.211661 0.18 0.1902 5008 , , NA 18518 0.4167 NA 0.0915 False NA ,,, NA NA NA 2504 0.182 NA NA NA Dom yes 1 1q23 2213 Fc fragment of IgG, low affinity IIb, receptor for (CD32) L 0 T 529,3853 95,339,1757 227 227 227 0.9 0 1 dbSNP_132 227 448,8144 49,350,3897 no intron FCGR2C NM_201563.4 144,689,5654 CC,CT,TT 5.2142,12.0721,7.5304 161565408 977,11997 2191 4296 6487 SO:0001627 intron_variant BC031992 CCDS30924.1, CCDS30925.1, CCDS53414.1 1q23 2013-01-11 2005-02-02 ENSG00000072694 ENSG00000072694 2213 CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 3618 protein-coding gene gene with protein product 604590 Fc fragment of IgG, low affinity IIb, receptor for (CD32) FCG2, FCGR2 NA 2139735 Standard NM_004001 NM_004001 NA Approved CD32, CD32B uc001gaz.2 P31994 OTTHUMG00000034470 ENST00000403078.3:c.133+7176T>C chr1.hg19:g.161565408T>C NA A6H8N3|O95649|Q53X85|Q5VXA9|Q8NIA1 hg19 0.02 36.645374 TTCxTCC COVERED 376 0.17216117216117216 58 0.11788617886178862 60 0.16574585635359115 210 0.36713286713286714 48 0.0633245382585752 - 5.174 0.217748 0.09810 0.120721 0.052142 ENSG00000244682 ENST00000543859 . . . 2.0 0.939 0.19506 . . . . . T 0.14356 0.0347 . . . 0.80722 P 0.0 . . . . . . T 0.19353 -1.0308 3 . . . . 4.2906 0.10876 0.0:0.5224:0.0:0.4776 . . . . L 22 . . F + 1 0 FCGR2C 159832032 0.000000 0.05858 0.000000 0.03702 0.010000 0.07245 -1.853000 0.01666 -0.059000 0.13154 -1.160000 0.01791 TTC NOVEL FCGR2B-203 KNOWN basic|appris_principal protein_coding NA protein_coding 6 61.94081 KEEP 2 0 0 206 6572 TT 1 1 0 + 28 54 1054 0 0 65.840376 787 60 29361 1272 ENST00000403078.3 0.034356 1 FCGR2B 2213 __UNKNOWN__ __UNKNOWN__ 1 161565479 161565479 __UNKNOWN__ Intron SNP G G A rs111504845 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:161565479G>A ENST00000403078.3 + 2 260 FCGR2C_ENST00000466542.2_RNA|RP11-25K21.6_ENST00000537821.2_RNA|FCGR2B_ENST00000367962.4_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000428605.2_Intron|FCGR2C_ENST00000543859.1_RNA|FCGR3A_ENST00000540048.1_Intron|FCGR2C_ENST00000473530.2_RNA P31994 FCG2B_HUMAN Fc fragment of IgG, low affinity IIb, receptor (CD32) NA NA immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|viral process (GO:0016032) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) NA all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Antithymocyte globulin(DB00098)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) aatggagactgggcctgaaaa 0.418 NA T ? ALL .||| 2213 0.441893 0.3298 0.5144 5008 , , NA 18739 0.62 NA 0.331 False NA ,,, NA NA NA 2504 0.4724 NA NA NA Dom yes 1 1q23 2213 Fc fragment of IgG, low affinity IIb, receptor for (CD32) L 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC031992 CCDS30924.1, CCDS30925.1, CCDS53414.1 1q23 2013-01-11 2005-02-02 ENSG00000072694 ENSG00000072694 2213 CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 3618 protein-coding gene gene with protein product 604590 Fc fragment of IgG, low affinity IIb, receptor for (CD32) FCG2, FCGR2 NA 2139735 Standard NM_004001 NM_004001 NA Approved CD32, CD32B uc001gaz.2 P31994 OTTHUMG00000034470 ENST00000403078.3:c.133+7247G>A chr1.hg19:g.161565479G>A NA A6H8N3|O95649|Q53X85|Q5VXA9|Q8NIA1 hg19 0.02 27.485743 ACTxGGC COVERED NOVEL FCGR2B-203 KNOWN basic|appris_principal protein_coding NA protein_coding 5 40.99787 KEEP 1 2 65 159 5607 GG 1 1 0 + 24 60 898 0 0 56.739866 621 60 23100 961 ENST00000403078.3 0.037209 1 FCGR2B 2213 __UNKNOWN__ __UNKNOWN__ 1 161565604 161565604 __UNKNOWN__ Intron SNP G G A rs147165343 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:161565604G>A ENST00000403078.3 + 2 260 FCGR2C_ENST00000466542.2_RNA|RP11-25K21.6_ENST00000537821.2_RNA|FCGR2B_ENST00000367962.4_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000428605.2_Intron|FCGR2C_ENST00000543859.1_RNA|FCGR3A_ENST00000540048.1_Intron|FCGR2C_ENST00000473530.2_RNA P31994 FCG2B_HUMAN Fc fragment of IgG, low affinity IIb, receptor (CD32) NA NA immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|viral process (GO:0016032) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) NA all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Antithymocyte globulin(DB00098)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) tacttaacttggatcatttct 0.338 NA T ? ALL .||| 791 0.157947 0.118 0.1427 5008 , , NA 17741 0.3403 NA 0.0855 False NA ,,, NA NA NA 2504 0.1094 NA NA NA Dom yes 1 1q23 2213 Fc fragment of IgG, low affinity IIb, receptor for (CD32) L 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC031992 CCDS30924.1, CCDS30925.1, CCDS53414.1 1q23 2013-01-11 2005-02-02 ENSG00000072694 ENSG00000072694 2213 CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 3618 protein-coding gene gene with protein product 604590 Fc fragment of IgG, low affinity IIb, receptor for (CD32) FCG2, FCGR2 NA 2139735 Standard NM_004001 NM_004001 NA Approved CD32, CD32B uc001gaz.2 P31994 OTTHUMG00000034470 ENST00000403078.3:c.133+7372G>A chr1.hg19:g.161565604G>A NA A6H8N3|O95649|Q53X85|Q5VXA9|Q8NIA1 hg19 0.02 6.994525 CTTxGAT COVERED NOVEL FCGR2B-203 KNOWN basic|appris_principal protein_coding NA protein_coding 0 5.713118 KEEP 0 0 0 19 580 GG 0.99986 0.99986 0 + 8 49 304 0 0 20.518081 148 50 5230 176 ENST00000403078.3 0.051282 1 FCGR2B 2213 __UNKNOWN__ __UNKNOWN__ 1 161569893 161569893 __UNKNOWN__ Intron SNP A A G rs144426992 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:161569893A>G ENST00000403078.3 + 2 260 RP11-25K21.6_ENST00000537821.2_RNA|FCGR2B_ENST00000367962.4_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000428605.2_Intron|FCGR2C_ENST00000543859.1_RNA|FCGR3A_ENST00000540048.1_Intron P31994 FCG2B_HUMAN Fc fragment of IgG, low affinity IIb, receptor (CD32) NA NA immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|viral process (GO:0016032) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) NA all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Antithymocyte globulin(DB00098)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) taattaggtgactagggactt 0.343 NA T ? ALL .||| 1291 0.257788 0.3359 0.2579 5008 , , NA 12185 0.2688 NA 0.2435 False NA ,,, NA NA NA 2504 0.1554 NA NA NA Dom yes 1 1q23 2213 Fc fragment of IgG, low affinity IIb, receptor for (CD32) L 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC031992 CCDS30924.1, CCDS30925.1, CCDS53414.1 1q23 2013-01-11 2005-02-02 ENSG00000072694 ENSG00000072694 2213 CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 3618 protein-coding gene gene with protein product 604590 Fc fragment of IgG, low affinity IIb, receptor for (CD32) FCG2, FCGR2 NA 2139735 Standard NM_004001 NM_004001 NA Approved CD32, CD32B uc001gaz.2 P31994 OTTHUMG00000034470 ENST00000403078.3:c.133+11661A>G chr1.hg19:g.161569893A>G NA A6H8N3|O95649|Q53X85|Q5VXA9|Q8NIA1 hg19 0.02 22.748875 GTGxCTA COVERED NOVEL FCGR2B-203 KNOWN basic|appris_principal protein_coding NA protein_coding 4 20.4632 KEEP 99 0 0 68 2208 AA 1 1 0 + 17 40 614 0 0 36.62685 531 60 18805 838 ENST00000403078.3 0.031022 1 FCGR2B 2213 __UNKNOWN__ __UNKNOWN__ 1 161570541 161570541 __UNKNOWN__ Intron SNP G G A rs143450775 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:161570541G>A ENST00000403078.3 + 2 260 RP11-25K21.6_ENST00000537821.2_RNA|FCGR2B_ENST00000367962.4_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000428605.2_Intron|FCGR3A_ENST00000540048.1_Intron P31994 FCG2B_HUMAN Fc fragment of IgG, low affinity IIb, receptor (CD32) NA NA immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|viral process (GO:0016032) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) NA all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Antithymocyte globulin(DB00098)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) TGGGATTTGAGAAGAGAATTA 0.448 NA T ? ALL .||| 591 0.118011 0.1074 0.1369 5008 , , NA 20040 0.2063 NA 0.0785 False NA ,,, NA NA NA 2504 0.0685 NA NA NA Dom yes 1 1q23 2213 Fc fragment of IgG, low affinity IIb, receptor for (CD32) L 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC031992 CCDS30924.1, CCDS30925.1, CCDS53414.1 1q23 2013-01-11 2005-02-02 ENSG00000072694 ENSG00000072694 2213 CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 3618 protein-coding gene gene with protein product 604590 Fc fragment of IgG, low affinity IIb, receptor for (CD32) FCG2, FCGR2 NA 2139735 Standard NM_004001 NM_004001 NA Approved CD32, CD32B uc001gaz.2 P31994 OTTHUMG00000034470 ENST00000403078.3:c.133+12309G>A chr1.hg19:g.161570541G>A NA A6H8N3|O95649|Q53X85|Q5VXA9|Q8NIA1 hg19 0.02 28.755513 TGAxAAG COVERED NOVEL FCGR2B-203 KNOWN basic|appris_principal protein_coding NA protein_coding 4 33.409135 KEEP 159 0 0 111 3979 GG 1 1 0 + 28 60 1010 1 0 63.877872 643 60 24584 1088 ENST00000403078.3 0.041729 1 FCGR3B 2215 __UNKNOWN__ __UNKNOWN__ 1 161601097 161601097 __UNKNOWN__ Intron SNP C C A rs67020125 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:161601097C>A ENST00000367964.2 - 2 78 FCGR2B_ENST00000367962.4_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000428605.2_Intron|FCGR3B_ENST00000294800.3_De_novo_Start_OutOfFrame|FCGR2B_ENST00000403078.3_Intron NM_000570.4|NM_001271036.1 NP_000561.3|NP_001257965.1 O75015 FCG3B_HUMAN Fc fragment of IgG, low affinity IIIb, receptor (CD16b) NA NA immune response (GO:0006955) anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886) central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1) 18 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) AGGAAAGAGCCTGGAGGCAAG 0.522 NA C||| 472 0.0942492 0.0885 0.0533 5008 , , NA 18709 0.1607 NA 0.0885 False NA ,,, NA NA NA 2504 0.0685 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant J04162 CCDS41433.1, CCDS58040.1, CCDS72960.1, CCDS72961.1 1q23 2013-01-11 2005-02-02 ENSG00000162747 ENSG00000162747 2215 CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 3620 protein-coding gene gene with protein product 610665 Fc fragment of IgG, low affinity IIIb, receptor for (CD16) FCGR3, FCG3 NA 2139735 Standard NM_000570 NM_000570 NA Approved CD16, CD16b uc009wul.3 O75015 OTTHUMG00000074099 ENST00000367964.2:c.44-169G>T chr1.hg19:g.161601097C>A NA hg19 CCDS41433.1 0.02 15.64403 AGCxTGG COVERED NOVEL FCGR3B-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000383000.1 2 9.33014 KEEP 0 0 0 31 1111 CC 0.999997 0.999997 0 - 21 60 756 0 0 51.658461 310 60 11767 416 ENST00000367964.2 0.063444 1 FCGR2B 2213 __UNKNOWN__ __UNKNOWN__ 1 161643065 161643065 __UNKNOWN__ Intron SNP G G C rs199520511 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:161643065G>C ENST00000236937.9 + 4 741 FCGR2B_ENST00000358671.5_Intron|RP11-25K21.1_ENST00000453111.1_RNA|FCGR2B_ENST00000367961.4_Intron|FCGR2B_ENST00000367962.4_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000403078.3_Intron NM_001002273.2|NM_001002274.2 NP_001002273.1|NP_001002274.1 P31994 FCG2B_HUMAN Fc fragment of IgG, low affinity IIb, receptor (CD32) NA NA immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|viral process (GO:0016032) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) NA all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Antithymocyte globulin(DB00098)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) AGAGGGGATGGACAAGGGCTG 0.552 NA T ? ALL NA NA NA NA NA NA NA NA NA Dom yes 1 1q23 2213 Fc fragment of IgG, low affinity IIb, receptor for (CD32) L 0 G ,,,, 10,4304 0,10,2147 40 36 38 ,,,, -0.5 0 1 38 66,8420 0,66,4177 no intron,intron,intron,intron,intron FCGR2B NM_001002273.2,NM_001002274.2,NM_001002275.2,NM_001190828.1,NM_004001.4 ,,,, 0,76,6324 CC,CG,GG 0.7778,0.2318,0.5938 ,,,, ,,,, 161643065 76,12724 2157 4243 6400 SO:0001627 intron_variant BC031992 CCDS30924.1, CCDS30925.1, CCDS53414.1 1q23 2013-01-11 2005-02-02 ENSG00000072694 ENSG00000072694 2213 CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 3618 protein-coding gene gene with protein product 604590 Fc fragment of IgG, low affinity IIb, receptor for (CD32) FCG2, FCGR2 NA 2139735 Standard NM_004001 NM_004001 NA Approved CD32, CD32B uc001gaz.2 P31994 OTTHUMG00000034470 ENST00000236937.9:c.646+46G>C chr1.hg19:g.161643065G>C NA A6H8N3|O95649|Q53X85|Q5VXA9|Q8NIA1 hg19 CCDS30925.1 0.02 2.271356 ATGxACA COVERED NOVEL FCGR2B-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000157309.1 1 4.213518 KEEP 29 0 0 14 480 GG 0.993072 0.992968 0 + 10 27 371 0 0 28.08823 83 60 3113 144 ENST00000236937.9 0.107527 0.999895 FCGR2B 2213 __UNKNOWN__ __UNKNOWN__ 1 161643269 161643269 __UNKNOWN__ Intron SNP C C T rs2045571 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:161643269C>T ENST00000236937.9 + 4 741 FCGR2B_ENST00000358671.5_Intron|RP11-25K21.1_ENST00000453111.1_RNA|FCGR2B_ENST00000367961.4_Intron|FCGR2B_ENST00000367962.4_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000428605.2_Missense_Mutation_p.T221M|FCGR2B_ENST00000403078.3_Intron NM_001002273.2|NM_001002274.2 NP_001002273.1|NP_001002274.1 P31994 FCG2B_HUMAN Fc fragment of IgG, low affinity IIb, receptor (CD32) NA NA immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|viral process (GO:0016032) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) NA all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Antithymocyte globulin(DB00098)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) AGACTAAGGACGGCAGCGAAG 0.532 NA T ? ALL NA NA NA NA NA NA NA NA NA Dom yes 1 1q23 2213 Fc fragment of IgG, low affinity IIb, receptor for (CD32) L 0 T ,,,, 461,1289 44,373,458 22 18 19 ,,,, -4 0 1 dbSNP_94 19 422,3548 15,392,1578 no intron,intron,intron,intron,intron FCGR2B NM_001002273.2,NM_001002274.2,NM_001002275.2,NM_001190828.1,NM_004001.4 ,,,, 59,765,2036 TT,TC,CC 10.6297,26.3429,15.4371 ,,,, ,,,, 161643269 883,4837 875 1985 2860 SO:0001627 intron_variant BC031992 CCDS30924.1, CCDS30925.1, CCDS53414.1 1q23 2013-01-11 2005-02-02 ENSG00000072694 ENSG00000072694 2213 CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 3618 protein-coding gene gene with protein product 604590 Fc fragment of IgG, low affinity IIb, receptor for (CD32) FCG2, FCGR2 NA 2139735 Standard NM_004001 NM_004001 NA Approved CD32, CD32B uc001gaz.2 P31994 OTTHUMG00000034470 ENST00000236937.9:c.646+250C>T chr1.hg19:g.161643269C>T NA A6H8N3|O95649|Q53X85|Q5VXA9|Q8NIA1 hg19 CCDS30925.1 0.02 2.071715 GGAxGGC COVERED . . . . . . . . . . C 0.019 -1.450145 0.01080 0.263429 0.106297 ENSG00000072694 ENST00000428605 T 0.02301 4.35 1.97 -3.95 0.04118 . . . . . T 0.00496 0.0016 . . . 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.45440 -0.9261 7 0.62326 D 0.03 . 2.0013 0.03467 0.1309:0.2757:0.1301:0.4633 rs2045571;rs41290386;rs52799663;rs61548046;rs2045571 221 P31995-4 . M 221 ENSP00000404329:T221M ENSP00000404329:T221M T + 2 0 FCGR2B 159909893 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -3.971000 0.00322 -2.881000 0.00319 -4.289000 0.00008 ACG NOVEL FCGR2B-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000157309.1 3 9.930686 KEEP 68 0 0 33 1106 CC 0.999366 0.999261 0 + 7 50 262 0 0 18.756472 86 50 2952 209 ENST00000236937.9 0.075269 0.999895 FCRLB 127943 __UNKNOWN__ __UNKNOWN__ 1 161697072 161697072 __UNKNOWN__ Missense_Mutation SNP G G C rs72704099 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:161697072G>C ENST00000367948.2 + 8 1116 c.901G>C c.(901-903)Gct>Cct p.A301P FCRLB_ENST00000367945.1_Missense_Mutation_p.Q245H|FCRLB_ENST00000392158.1_Missense_Mutation_p.A301P|FCRLB_ENST00000367944.3_Missense_Mutation_p.S259T|FCRLB_ENST00000367946.3_Missense_Mutation_p.Q252H|FCRLB_ENST00000495397.1_3'UTR|FCRLB_ENST00000336830.5_Missense_Mutation_p.S266T Q6BAA4 FCRLB_HUMAN Fc receptor-like B 301 NA negative regulation of immune response (GO:0050777) cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1) 17 all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00634) CACCGCCCCAGCTCCATGGGC 0.652 NA G||| 1565 0.3125 0.652 0.0951 5008 , , NA 10331 0.4266 NA 0.0606 False NA ,,, NA NA NA 2504 0.1493 NA NA NA NA 0 G PRO/ALA 2396,2008 660,1076,466 21 25 23 901 3 0 1 dbSNP_131 23 679,7917 22,635,3641 yes missense FCRLB NM_001002901.2 27 682,1711,4107 CC,CG,GG 7.899,45.5949,23.6538 benign 301/427 161697072 3075,9925 2202 4298 6500 SO:0001583 missense AY670683 CCDS30927.1, CCDS72962.1, CCDS72963.1, CCDS72964.1, CCDS72965.1 1q23.3 2013-01-11 2006-09-26 2006-09-26 ENSG00000162746 ENSG00000162746 127943 Immunoglobulin superfamily / Immunoglobulin-like domain containing 26431 protein-coding gene gene with protein product 609251 Fc receptor-like and mucin-like 2 FCRLM2 NA 15676285 Standard NM_152378 NM_001288829 NA Approved FLJ31052, FCRL2, FREB-2, FCRLY uc001gbi.3 Q6BAA4 OTTHUMG00000133629 ENST00000367948.2:c.901G>C chr1.hg19:g.161697072G>C ENSP00000356925:p.Ala301Pro NA A2A3J5|A2A3J7|Q5VXA6|Q6BAA0|Q6BAA1|Q6BAA2|Q6BAA3|Q8IXZ7 hg19 CCDS30927.1 0.02 4.379206 CCAxCTC COVERED 612|612|612 0.2802197802197802|0.2802197802197802|0.2802197802197802 302|302|302 0.6138211382113821|0.6138211382113821|0.6138211382113821 41|41|41 0.1132596685082873|0.1132596685082873|0.1132596685082873 224|224|224 0.3916083916083916|0.3916083916083916|0.3916083916083916 45|45|45 0.059366754617414245|0.059366754617414245|0.059366754617414245 G|G|G 11.35|11.35|11.35 1.611622|1.611622|1.611622 0.28712|0.28712|0.28712 0.544051|0.544051|0.544051 0.07899|0.07899|0.07899 ENSG00000162746|ENSG00000162746|ENSG00000162746 ENST00000367948;ENST00000392158|ENST00000367946;ENST00000367945|ENST00000336830;ENST00000367944 D;D|T;T|T;T 0.96200|0.02067|0.02158 -3.94;-3.94|4.47;4.48|4.42;4.44 3.97|3.97|3.97 3.04|3.04|3.04 0.35103|0.35103|0.35103 .|.|. 1.082470|.|. 0.07330|.|. N|.|. 0.879054|.|. T|T|T 0.00815|0.00815|0.00815 0.0027|0.0027|0.0027 N|N|N 0.24115|0.24115|0.24115 0.695|0.695|0.695 0.80722|0.80722|0.80722 P|P|P 0.0|0.0|0.0 B|B;B|P;B;B 0.02656|0.33448|0.46512 0.0|0.412;0.412|0.879;0.027;0.027 B|B;B|B;B;B 0.01281|0.31946|0.39660 0.0|0.138;0.138|0.306;0.023;0.023 T|T|T 0.56920|0.56920|0.56920 -0.7899|-0.7899|-0.7899 9|8|8 0.12103|0.45353|0.87932 T|T|D 0.63|0.12|0 .|.|. 9.4625|9.4625|9.4625 0.38794|0.38794|0.38794 0.0:0.2171:0.7829:0.0|0.0:0.2171:0.7829:0.0|0.0:0.2171:0.7829:0.0 .|.|. 301|245;252|303;259;266 Q6BAA4|Q6BAA4-5;Q6BAA4-4|Q96DP6;Q6BAA4-3;Q6BAA4-2 FCRLB_HUMAN|.;.|.;.;. P|H|T 301|252;245|266;259 ENSP00000356925:A301P;ENSP00000375999:A301P|ENSP00000356923:Q252H;ENSP00000356922:Q245H|ENSP00000338598:S266T;ENSP00000356921:S259T ENSP00000356925:A301P|ENSP00000356922:Q245H|ENSP00000338598:S266T A|Q|S +|+|+ 1|3|2 0|2|0 FCRLB|FCRLB|FCRLB 159963696|159963696|159963696 0.024000|0.024000|0.024000 0.19004|0.19004|0.19004 0.001000|0.001000|0.001000 0.08648|0.08648|0.08648 0.081000|0.081000|0.081000 0.17604|0.17604|0.17604 1.639000|1.639000|1.639000 0.37176|0.37176|0.37176 0.874000|0.874000|0.874000 0.35823|0.35823|0.35823 0.442000|0.442000|0.442000 0.29010|0.29010|0.29010 GCT|CAG|AGC NOVEL FCRLB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000083585.1 1 15.651201 KEEP 0 0 0 52 1885 GG 1 0.999999 0 + 6 60 226 0 0 15.033317 118 60 4399 195 ENST00000367948.2 0.048387 0.999999 FCRLB 127943 __UNKNOWN__ __UNKNOWN__ 1 161697149 161697149 __UNKNOWN__ Silent SNP G G T rs16858529 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:161697149G>T ENST00000367948.2 + 8 1193 c.978G>T c.(976-978)ccG>ccT p.P326P FCRLB_ENST00000367945.1_Missense_Mutation_p.R271L|FCRLB_ENST00000392158.1_Silent_p.P326P|FCRLB_ENST00000367944.3_3'UTR|FCRLB_ENST00000367946.3_Missense_Mutation_p.R278L|FCRLB_ENST00000495397.1_3'UTR|FCRLB_ENST00000336830.5_3'UTR Q6BAA4 FCRLB_HUMAN Fc receptor-like B 326 NA negative regulation of immune response (GO:0050777) cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1) 17 all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00634) GATCGGTCCCGTTGGTCACCT 0.716 NA G||| 553 0.110423 0.0703 0.0274 5008 , , NA 9806 0.3889 NA 0.0278 False NA ,,, NA NA NA 2504 0.0215 NA NA NA NA 0 G 291,4115 11,269,1923 20 21 21 978 -6.3 0 1 dbSNP_123 21 227,8367 4,219,4074 no coding-synonymous FCRLB NM_001002901.2 15,488,5997 TT,TG,GG 2.6414,6.6046,3.9846 326/427 161697149 518,12482 2203 4297 6500 SO:0001819 synonymous_variant AY670683 CCDS30927.1, CCDS72962.1, CCDS72963.1, CCDS72964.1, CCDS72965.1 1q23.3 2013-01-11 2006-09-26 2006-09-26 ENSG00000162746 ENSG00000162746 127943 Immunoglobulin superfamily / Immunoglobulin-like domain containing 26431 protein-coding gene gene with protein product 609251 Fc receptor-like and mucin-like 2 FCRLM2 NA 15676285 Standard NM_152378 NM_001288829 NA Approved FLJ31052, FCRL2, FREB-2, FCRLY uc001gbi.3 Q6BAA4 OTTHUMG00000133629 ENST00000367948.2:c.978G>T chr1.hg19:g.161697149G>T NA A2A3J5|A2A3J7|Q5VXA6|Q6BAA0|Q6BAA1|Q6BAA2|Q6BAA3|Q8IXZ7 hg19 CCDS30927.1 0.02 12.143603 CCCxTTG COVERED 270 0.12362637362637363 28 0.056910569105691054 12 0.03314917127071823 212 0.3706293706293706 18 0.023746701846965697 G 15.40 2.821789 0.50633 0.066046 0.026414 ENSG00000162746 ENST00000367946;ENST00000367945 T;T 0.01821 4.62;4.62 4.27 -6.28 0.02020 . . . . . T 0.00178 0.0005 . . . 0.53688 P 2.5000000000052758E-5 B;B 0.09022 0.002;0.002 B;B 0.06405 0.002;0.002 T 0.45877 -0.9231 7 0.02654 T 1 . 1.5305 0.02534 0.4102:0.2749:0.1876:0.1272 rs16858529;rs56715071;rs16858529 271;278 Q6BAA4-5;Q6BAA4-4 .;. L 278;271 ENSP00000356923:R278L;ENSP00000356922:R271L ENSP00000356922:R271L R + 2 0 FCRLB 159963773 0.000000 0.05858 0.001000 0.08648 0.645000 0.38454 -1.076000 0.03420 -1.014000 0.03379 -0.538000 0.04264 CGT NOVEL FCRLB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000083585.1 2 56.20563 KEEP 0 1 32 198 6530 GG 1 1 0 + 24 60 893 0 0 65.471074 249 60 8337 595 ENST00000367948.2 0.087912 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 161697977 161697977 __UNKNOWN__ IGR SNP G G C rs16858733 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:161697977G>C NA NA FCRLB (44 upstream) : RN7SL466P (7620 downstream) NA NA NA CCCATTCCCTGGTTAAAAGGG 0.522 NA G||| 1411 0.281749 0.5454 0.0807 5008 , , NA 13921 0.4236 NA 0.0616 False NA ,,, NA NA NA 2504 0.1483 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.161697977G>C NA hg19 0.02 1.962916 CCTxGTT COVERED NOVEL 0 2 12.941145 KEEP 0 0 0 43 1477 GG 1 0.99993 0 5 60 165 0 0 10.4111 89 60 3331 166 0.053191 0.99993 DUSP12 11266 __UNKNOWN__ __UNKNOWN__ 1 161721707 161721707 __UNKNOWN__ Silent SNP C C T rs1063178 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:161721707C>T ENST00000367943.4 + 3 542 c.510C>T c.(508-510)taC>taT p.Y170Y NM_007240.1 NP_009171.1 Q9UNI6 DUS12_HUMAN dual specificity phosphatase 12 170 NA cellular protein modification process (GO:0006464)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of glucokinase activity (GO:0033133)|protein dephosphorylation (GO:0006470) cytoplasm (GO:0005737)|nucleus (GO:0005634) protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|zinc ion binding (GO:0008270) breast(1)|endometrium(2)|kidney(1)|lung(1) 5 all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00634) CAATGGGATACGAAGTGGATA 0.333 NA C||| 1803 0.360024 0.407 0.2464 5008 , , NA 18522 0.4831 NA 0.2922 False NA ,,, NA NA NA 2504 0.32 NA NA NA NA 0 C 1715,2691 513.7+/-368.4 344,1027,832 95 103 100 510 0.1 0.7 1 dbSNP_86 100 2889,5711 452.1+/-362.9 453,1983,1864 no coding-synonymous DUSP12 NM_007240.1 797,3010,2696 TT,TC,CC 33.593,38.9242,35.399 170/341 161721707 4604,8402 2203 4300 6503 SO:0001819 synonymous_variant AF119226 CCDS1234.1 1q21-q22 2011-06-09 ENSG00000081721 ENSG00000081721 11266 Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases 3067 protein-coding gene gene with protein product serine/threonine specific protein phosphatase, YVH1 protein-tyrosine phosphatase (S. cerevisiae) ortholog 604835 NA 10446167 Standard NM_007240 XM_005244862 NA Approved YVH1, DUSP1 uc001gbo.3 Q9UNI6 OTTHUMG00000034540 ENST00000367943.4:c.510C>T chr1.hg19:g.161721707C>T NA Q5VXA8 hg19 CCDS1234.1 0.02 2.059471 ATAxGAA COVERED NOVEL DUSP12-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000083588.1 0 6.620717 KEEP 0 0 0 22 743 CC 0.999879 0.999366 0 + 7 60 259 0 0 18.816611 76 60 2668 133 ENST00000367943.4 0.084337 0.999487 OLFML2B 25903 __UNKNOWN__ __UNKNOWN__ 1 161989769 161989769 __UNKNOWN__ Missense_Mutation SNP A A C rs555362404 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:161989769A>C ENST00000367940.2 - 2 587 c.378T>G c.(376-378)aaT>aaG p.N126K OLFML2B_ENST00000294794.3_Missense_Mutation_p.N126K Q68BL8 OLM2B_HUMAN olfactomedin-like 2B 126 NA extracellular matrix organization (GO:0030198) extracellular matrix (GO:0031012)|extracellular region (GO:0005576) extracellular matrix binding (GO:0050840) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) CCTCGCAGGGATTGAGGGCCG 0.602 NA A||| 2 0.000399361 0.0 0.0 5008 , , NA 20297 0.002 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 66 65 65 NA NA 1 NA 161989769 2203 4300 6503 SO:0001583 missense BX648975 CCDS1236.1, CCDS72966.1 1q23.1 2008-02-05 ENSG00000162745 ENSG00000162745 25903 24558 protein-coding gene gene with protein product NA Standard NM_015441 XM_005245075 NA Approved DKFZP586L151 uc001gbu.3 Q68BL8 OTTHUMG00000024047 ENST00000367940.2:c.378T>G chr1.hg19:g.161989769A>C ENSP00000356917:p.Asn126Lys NA B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6 hg19 0.02 9.300697 GGGxTTG COVERED . . . . . . . . . . A 19.89 3.910348 0.72983 . . ENSG00000162745 ENST00000294794;ENST00000367940 T;T 0.48836 0.8;0.8 4.64 -0.301 0.12800 . . . . . T 0.38612 0.1047 L 0.56199 1.76 0.44316 D 0.997199 D;D 0.65815 0.986;0.995 P;P 0.56700 0.722;0.804 T 0.30794 -0.9966 8 0.87932 D 0 . 8.2796 0.31892 0.5891:0.0:0.4109:0.0 . 126;126 F2Z3N3;Q68BL8 .;OLM2B_HUMAN K 126 ENSP00000294794:N126K;ENSP00000356917:N126K ENSP00000294794:N126K N - 3 2 OLFML2B 160256393 1.000000 0.71417 1.000000 0.80357 0.934000 0.57294 0.867000 0.27968 0.053000 0.16036 0.459000 0.35465 AAT NOVEL OLFML2B-006 NOVEL basic|appris_candidate_longest|exp_conf protein_coding NA protein_coding OTTHUMT00000383006.1 0 13.239618 KEEP 0 0 0 44 1379 AA 1 1 0 - 10 60 375 0 0 24.798411 201 60 6960 310 ENST00000367940.2 0.047393 1 OLFML2B 25903 __UNKNOWN__ __UNKNOWN__ 1 161993192 161993192 __UNKNOWN__ Missense_Mutation SNP T T C rs12130792 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:161993192T>C ENST00000367940.2 - 1 238 c.29A>G c.(28-30)tAc>tGc p.Y10C OLFML2B_ENST00000294794.3_Missense_Mutation_p.Y10C Q68BL8 OLM2B_HUMAN olfactomedin-like 2B 10 NA Y -> C (in dbSNP:rs12130792). extracellular matrix organization (GO:0030198) extracellular matrix (GO:0031012)|extracellular region (GO:0005576) extracellular matrix binding (GO:0050840) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) CAGAGCGAAGTAGAGAACTAG 0.627 NA T||| 488 0.0974441 0.1604 0.0375 5008 , , NA 17425 0.1419 NA 0.0726 False NA ,,, NA NA NA 2504 0.0348 NA NA NA NA 0 T CYS/TYR 629,3777 269.5+/-269.1 50,529,1624 56 56 56 29 2.8 0.6 1 dbSNP_120 56 648,7952 165.9+/-218.0 23,602,3675 yes missense OLFML2B NM_015441.1 194 73,1131,5299 CC,CT,TT 7.5349,14.276,9.8185 benign 10/751 161993192 1277,11729 2203 4300 6503 SO:0001583 missense BX648975 CCDS1236.1, CCDS72966.1 1q23.1 2008-02-05 ENSG00000162745 ENSG00000162745 25903 24558 protein-coding gene gene with protein product NA Standard NM_015441 XM_005245075 NA Approved DKFZP586L151 uc001gbu.3 Q68BL8 OTTHUMG00000024047 ENST00000367940.2:c.29A>G chr1.hg19:g.161993192T>C ENSP00000356917:p.Tyr10Cys NA B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6 hg19 0.02 13.346021 AAGxAGA COVERED 239 0.10943223443223443 84 0.17073170731707318 14 0.03867403314917127 85 0.1486013986013986 56 0.07387862796833773 T 5.529 0.282591 0.10458 0.14276 0.075349 ENSG00000162745 ENST00000294794;ENST00000367940 D;D 0.86432 -2.12;-2.12 4.85 2.76 0.32466 . . . . . T 0.37919 0.1021 N 0.01576 -0.805 0.23645 P 0.99722 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.10894 -1.0610 8 0.02654 T 1 . 6.6908 0.23169 0.0:0.7575:0.0:0.2425 rs12130792;rs58683497;rs12130792 10;10 F2Z3N3;Q68BL8 .;OLM2B_HUMAN C 10 ENSP00000294794:Y10C;ENSP00000356917:Y10C ENSP00000294794:Y10C Y - 2 0 OLFML2B 160259816 0.782000 0.28689 0.575000 0.28536 0.084000 0.17831 0.741000 0.26202 0.501000 0.28013 -0.366000 0.07423 TAC NOVEL OLFML2B-006 NOVEL basic|appris_candidate_longest|exp_conf protein_coding NA protein_coding OTTHUMT00000383006.1 1 24.671378 KEEP 0 0 0 82 2519 TT 1 1 0 - 11 60 381 0 0 22.300552 329 60 11205 552 ENST00000367940.2 0.032353 1 NOS1AP 9722 __UNKNOWN__ __UNKNOWN__ 1 162334908 162334908 __UNKNOWN__ Intron SNP G G A rs183591646 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:162334908G>A ENST00000361897.5 + 9 1341 NOS1AP_ENST00000530878.1_Intron|NOS1AP_ENST00000493151.1_5'UTR NM_001164757.1|NM_014697.2 NP_001158229.1|NP_055512.1 O75052 CAPON_HUMAN nitric oxide synthase 1 (neuronal) adaptor protein NA NA regulation of apoptotic process (GO:0042981)|regulation of nitric oxide biosynthetic process (GO:0045428)|regulation of nitric-oxide synthase activity (GO:0050999) nitric-oxide synthase binding (GO:0050998) NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2) 32 all_hematologic(112;0.203) BRCA - Breast invasive adenocarcinoma(70;0.0537) CAGGTCTAGAGGGTCGATGGC 0.547 NA G||| 1 0.000199681 0.0 0.0 5008 , , NA 20303 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB007933 CCDS1237.1, CCDS44267.1, CCDS53421.1 1q23.3 2010-08-20 ENSG00000198929 ENSG00000198929 9722 16859 protein-coding gene gene with protein product C-terminal PDZ domain ligand of neuronal nitric oxide synthase 605551 NA 9455484, 9459447 Standard NM_014697 NM_001126060 NA Approved KIAA0464, CAPON uc001gbv.2 O75052 OTTHUMG00000024049 ENST00000361897.5:c.940-286G>A chr1.hg19:g.162334908G>A NA B7ZLF5|O43564|Q3T551|Q5VU95 hg19 CCDS1237.1 0.02 4.52621 AGAxGGT COVERED NOVEL NOS1AP-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000060555.2 7 10.534441 KEEP 0 0 0 35 1252 GG 0.999999 0.999998 0 + 5 60 189 0 0 12.068708 126 60 4693 209 ENST00000361897.5 0.038168 1 SH2D1B 117157 __UNKNOWN__ __UNKNOWN__ 1 162365659 162365659 __UNKNOWN__ 3'UTR SNP G G A rs164126 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:162365659G>A ENST00000367929.2 - 0 1919 SH2D1B_ENST00000359567.3_3'UTR NM_053282.4 NP_444512.2 O14796 SH21B_HUMAN SH2 domain containing 1B NA NA leukocyte activation involved in immune response (GO:0002366)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of innate immune response (GO:0045089)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated immunity (GO:0002717)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of natural killer cell activation (GO:0032814) intracellular (GO:0005622) protein binding, bridging (GO:0030674) kidney(1)|large_intestine(1)|lung(4)|pancreas(1) 7 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.126) tttatgcatgggaaaacatca 0.333 NA G||| 1945 0.388379 0.211 0.451 5008 , , NA 18607 0.5893 NA 0.3827 False NA ,,, NA NA NA 2504 0.3824 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF484964 CCDS30928.1 1q23.3 2013-02-14 ENSG00000198574 ENSG00000198574 117157 SH2 domain containing 30416 protein-coding gene gene with protein product 608510 NA 9000139, 11689425 Standard NM_053282 NM_053282 NA Approved EAT2 uc001gbz.1 O14796 OTTHUMG00000031377 ENST00000367929.2:c.*1411C>T chr1.hg19:g.162365659G>A NA B2RBN6|Q5T0L1|Q8NI18|Q969K9 hg19 CCDS30928.1 0.02 5.927951 ATGxGAA COVERED NOVEL SH2D1B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076794.1 1 4.886019 KEEP 0 2 65 39 1365 GG 1 1 0 - 10 60 351 0 0 22.684762 188 60 6825 287 ENST00000367929.2 0.050505 1 SH2D1B 117157 __UNKNOWN__ __UNKNOWN__ 1 162367103 162367103 __UNKNOWN__ Missense_Mutation SNP G G T rs34001279 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:162367103G>T ENST00000367929.2 - 4 475 c.366C>A c.(364-366)aaC>aaA p.N122K SH2D1B_ENST00000359567.3_Missense_Mutation_p.N67K NM_053282.4 NP_444512.2 O14796 SH21B_HUMAN SH2 domain containing 1B 122 NA N -> K (in dbSNP:rs34001279). {ECO:0000269|PubMed:12115647}. leukocyte activation involved in immune response (GO:0002366)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of innate immune response (GO:0045089)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated immunity (GO:0002717)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of natural killer cell activation (GO:0032814) intracellular (GO:0005622) protein binding, bridging (GO:0030674) kidney(1)|large_intestine(1)|lung(4)|pancreas(1) 7 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.126) CGCTGTTACTGTTCTTTGGAG 0.468 NA G||| 569 0.113618 0.0318 0.1744 5008 , , NA 18465 0.1409 NA 0.1193 False NA ,,, NA NA NA 2504 0.1472 NA NA NA NA 0 G LYS/ASN 173,4233 113.8+/-151.8 3,167,2033 89 84 86 366 3.5 0.9 1 dbSNP_126 86 977,7623 211.3+/-251.9 56,865,3379 yes missense SH2D1B NM_053282.4 94 59,1032,5412 TT,TG,GG 11.3605,3.9265,8.8421 benign 122/133 162367103 1150,11856 2203 4300 6503 SO:0001583 missense AF484964 CCDS30928.1 1q23.3 2013-02-14 ENSG00000198574 ENSG00000198574 117157 SH2 domain containing 30416 protein-coding gene gene with protein product 608510 NA 9000139, 11689425 Standard NM_053282 NM_053282 NA Approved EAT2 uc001gbz.1 O14796 OTTHUMG00000031377 ENST00000367929.2:c.366C>A chr1.hg19:g.162367103G>T ENSP00000356906:p.Asn122Lys NA B2RBN6|Q5T0L1|Q8NI18|Q969K9 hg19 CCDS30928.1 0.02 29.056419 ACTxTTC COVERED 226 0.10347985347985347 16 0.032520325203252036 44 0.12154696132596685 79 0.1381118881118881 87 0.11477572559366754 G 13.70 2.316269 0.40996 0.039265 0.113605 ENSG00000198574 ENST00000367929;ENST00000359567 D;D 0.88664 -1.53;-2.41 4.38 3.47 0.39725 . . . . . D 0.86863 0.6035 L 0.55481 1.735 0.33815 D 0.628385 D;B 0.60160 0.987;0.061 P;B 0.58077 0.832;0.014 D 0.86288 0.1672 8 0.87932 D 0 -18.9059 8.1586 0.31185 0.1091:0.0:0.8909:0.0 rs34001279 67;122 O14796-2;O14796 .;SH21B_HUMAN K 122;67 ENSP00000356906:N122K;ENSP00000352571:N67K ENSP00000352571:N67K N - 3 2 SH2D1B 160633727 0.914000 0.31030 0.854000 0.33618 0.124000 0.20399 1.311000 0.33562 1.189000 0.43028 0.563000 0.77884 AAC NOVEL SH2D1B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076794.1 2 18.194837 KEEP 0 1 33 72 2572 GG 1 1 0 - 19 60 647 0 0 35.62127 740 70 27455 1034 ENST00000367929.2 0.025033 1 UHMK1 127933 __UNKNOWN__ __UNKNOWN__ 1 162494467 162494467 __UNKNOWN__ 3'UTR SNP T T C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:162494467T>C ENST00000489294.1 + 0 3545 UHMK1_ENST00000538489.1_3'UTR NM_175866.4 NP_787062.1 Q8TAS1 UHMK1_HUMAN U2AF homology motif (UHM) kinase 1 NA NA cell cycle arrest (GO:0007050)|neuron projection development (GO:0031175)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of translational initiation (GO:0045948)|protein autophosphorylation (GO:0046777)|regulation of protein export from nucleus (GO:0046825) axon (GO:0030424)|dendrite cytoplasm (GO:0032839)|neuronal ribonucleoprotein granule (GO:0071598)|nucleus (GO:0005634) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|ribonucleoprotein complex binding (GO:0043021)|RNA binding (GO:0003723)|transferase activity (GO:0016740) endometrium(1)|large_intestine(2)|lung(6)|prostate(2) 11 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.126) AAACTGCAGGTAGGCTTCTAA 0.388 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC026046 CCDS1239.1, CCDS53423.1, CCDS53424.1 1q23.1 2013-02-12 ENSG00000152332 ENSG00000152332 127933 RNA binding motif (RRM) containing 19683 protein-coding gene gene with protein product 608849 NA 12093740, 12782393 Standard NM_175866 NM_175866 NA Approved KIS, Kist uc001gcc.2 Q8TAS1 OTTHUMG00000031373 ENST00000489294.1:c.*2127T>C chr1.hg19:g.162494467T>C NA A8K8K4|G3V1M1|Q96C22 hg19 CCDS1239.1 0.02 7.025411 AGGxAGG COVERED NOVEL UHMK1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076788.1 2 6.318043 KEEP 0 0 0 21 664 TT 0.999869 0.999869 0 + 6 60 238 0 0 14.989225 192 60 6799 253 ENST00000489294.1 0.030303 1 UHMK1 127933 __UNKNOWN__ __UNKNOWN__ 1 162495734 162495734 __UNKNOWN__ 3'UTR SNP T T A rs10917561 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:162495734T>A ENST00000489294.1 + 0 4812 UHMK1_ENST00000538489.1_3'UTR NM_175866.4 NP_787062.1 Q8TAS1 UHMK1_HUMAN U2AF homology motif (UHM) kinase 1 NA NA cell cycle arrest (GO:0007050)|neuron projection development (GO:0031175)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of translational initiation (GO:0045948)|protein autophosphorylation (GO:0046777)|regulation of protein export from nucleus (GO:0046825) axon (GO:0030424)|dendrite cytoplasm (GO:0032839)|neuronal ribonucleoprotein granule (GO:0071598)|nucleus (GO:0005634) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|ribonucleoprotein complex binding (GO:0043021)|RNA binding (GO:0003723)|transferase activity (GO:0016740) endometrium(1)|large_intestine(2)|lung(6)|prostate(2) 11 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.126) ATTTAACTTGTCTTCTAGATT 0.323 NA T||| 685 0.136781 0.0318 0.245 5008 , , NA 17928 0.2341 NA 0.1074 False NA ,,, NA NA NA 2504 0.1319 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC026046 CCDS1239.1, CCDS53423.1, CCDS53424.1 1q23.1 2013-02-12 ENSG00000152332 ENSG00000152332 127933 RNA binding motif (RRM) containing 19683 protein-coding gene gene with protein product 608849 NA 12093740, 12782393 Standard NM_175866 NM_175866 NA Approved KIS, Kist uc001gcc.2 Q8TAS1 OTTHUMG00000031373 ENST00000489294.1:c.*3394T>A chr1.hg19:g.162495734T>A NA A8K8K4|G3V1M1|Q96C22 hg19 CCDS1239.1 0.02 3.85924 TTGxCTT COVERED NOVEL UHMK1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076788.1 1 7.221156 KEEP 0 0 0 24 740 TT 0.999909 0.999907 0 + 6 60 217 0 0 14.311374 110 60 3895 153 ENST00000489294.1 0.051724 0.999997 DDR2 4921 __UNKNOWN__ __UNKNOWN__ 1 162737116 162737116 __UNKNOWN__ Silent SNP C C G rs2298258 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:162737116C>G ENST00000367922.3 + 12 1698 c.1260C>G c.(1258-1260)ctC>ctG p.L420L DDR2_ENST00000367921.3_Silent_p.L420L NM_001014796.1 NP_001014796.1 Q16832 DDR2_HUMAN discoidin domain receptor tyrosine kinase 2 420 NA biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165) apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714) central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1) 7 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.113) Regorafenib(DB08896) TCATCATCCTCTGGAGGCAGT 0.473 NA C||| 1745 0.348442 0.5023 0.353 5008 , , NA 20143 0.4077 NA 0.1461 False NA ,,, NA NA NA 2504 0.2843 NA NA NA NSCLC(161;314 2006 8283 19651 23192) NA 0 C , 2082,2324 572.6+/-383.4 502,1078,623 117 107 110 1260,1260 1.6 1 1 dbSNP_100 110 1264,7336 252.6+/-278.6 103,1058,3139 no coding-synonymous,coding-synonymous DDR2 NM_001014796.1,NM_006182.2 , 605,2136,3762 GG,GC,CC 14.6977,47.2537,25.7266 , 420/856,420/856 162737116 3346,9660 2203 4300 6503 SO:0001819 synonymous_variant AK095975 CCDS1241.1 1q12-q23 2009-07-10 2008-01-23 ENSG00000162733 ENSG00000162733 4921 2.7.10.1 2731 protein-coding gene gene with protein product 191311 discoidin domain receptor family, member 2 TYRO10, NTRKR3 NA 9659899 Standard NM_006182 XM_005245221 NA Approved TKT uc001gcg.3 Q16832 OTTHUMG00000034423 ENST00000367922.3:c.1260C>G chr1.hg19:g.162737116C>G NA Q7Z730 hg19 CCDS1241.1 0.02 2.367834 CCTxTGG COVERED 705 0.3228021978021978 253 0.5142276422764228 113 0.31215469613259667 237 0.4143356643356643 102 0.1345646437994723 C 9.562 1.118647 0.20877 0.472537 0.146977 ENSG00000162733 ENST00000433757 T 0.74315 -0.83 5.79 1.65 0.23941 . 0.000000 0.85682 D 0.000000 T 0.67420 0.2891 . . . 0.31024 P 0.717955 . . . . . . T 0.68010 -0.5522 6 0.87932 D 0 . 9.3142 0.37924 0.0:0.5761:0.2821:0.1418 rs2298258;rs2298258 . . . V 13 ENSP00000396864:L13V ENSP00000396864:L13V L + 1 2 DDR2 161003740 0.991000 0.36638 0.998000 0.56505 0.995000 0.86356 0.218000 0.17622 0.034000 0.15491 0.655000 0.94253 CTG NOVEL DDR2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000083213.2 0 5.417777 KEEP 0 0 0 18 646 CC 0.999859 0.999266 0 + 5 60 190 0 0 13.209362 77 60 2977 118 ENST00000367922.3 0.060976 0.999407 HSD17B7 51478 __UNKNOWN__ __UNKNOWN__ 1 162769666 162769666 __UNKNOWN__ Missense_Mutation SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:162769666G>A ENST00000254521.3 + 5 636 c.581G>A c.(580-582)aGc>aAc p.S194N HSD17B7_ENST00000485405.1_3'UTR|HSD17B7_ENST00000367917.3_Missense_Mutation_p.S194N NM_016371.2 NP_057455.1 P56937 DHB7_HUMAN hydroxysteroid (17-beta) dehydrogenase 7 194 NA cholesterol biosynthetic process (GO:0006695)|estrogen biosynthetic process (GO:0006703)|small molecule metabolic process (GO:0044281) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) 3-keto sterol reductase activity (GO:0000253)|estradiol 17-beta-dehydrogenase activity (GO:0004303) endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1) 9 all_hematologic(112;0.115) GAACCCTACAGCTCTTCCAAA 0.493 NA NA NA NA NA NA NA NA NA NA NA 0 52 47 49 NA NA 1 NA 162769666 2203 4297 6500 SO:0001583 missense AF098786 CCDS1242.1 1q23 2011-09-14 ENSG00000132196 ENSG00000132196 51478 1.1.1.270 Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2 5215 protein-coding gene gene with protein product short chain dehydrogenase/reductase family 37C, member 1 606756 NA 10544267, 10419022, 19027726 Standard NM_016371 NM_016371 NA Approved PRAP, SDR37C1 uc001gci.3 P56937 OTTHUMG00000034420 ENST00000254521.3:c.581G>A chr1.hg19:g.162769666G>A ENSP00000254521:p.Ser194Asn NA Q5T246|Q7Z4V9|Q8WWS2|Q9UF00 hg19 CCDS1242.1 0.02 12.874219 ACAxCTC COVERED . . . . . . . . . . G 23.1 4.372379 0.82573 . . ENSG00000132196 ENST00000367917;ENST00000254521;ENST00000413934 T;T;T 0.77358 2.85;-1.09;2.85 4.44 4.44 0.53790 NAD(P)-binding domain (1); 0.000000 0.85682 D 0.000000 T 0.79173 0.4401 L 0.40543 1.245 0.32986 D 0.524342 D 0.76494 0.999 D 0.70935 0.971 T 0.81680 -0.0823 9 0.56958 D 0.05 -11.0991 15.7771 0.78232 0.0:0.0:1.0:0.0 . 194 P56937 DHB7_HUMAN N 194;194;47 ENSP00000356894:S194N;ENSP00000254521:S194N;ENSP00000412146:S47N ENSP00000254521:S194N S + 2 0 HSD17B7 161036290 1.000000 0.71417 1.000000 0.80357 0.780000 0.44128 9.373000 0.97168 2.271000 0.75665 0.650000 0.86243 AGC NOVEL HSD17B7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000083207.1 3 43.642457 KEEP 6 0 0 145 5222 GG 1 1 0 + 13 60 460 0 0 28.750764 301 60 11345 542 ENST00000254521.3 0.041401 1 HSD17B7 51478 __UNKNOWN__ __UNKNOWN__ 1 162773396 162773396 __UNKNOWN__ Intron SNP G G A rs2257574 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:162773396G>A ENST00000254521.3 + 6 802 HSD17B7_ENST00000485405.1_Intron|HSD17B7_ENST00000367917.3_Intron NM_016371.2 NP_057455.1 P56937 DHB7_HUMAN hydroxysteroid (17-beta) dehydrogenase 7 NA NA cholesterol biosynthetic process (GO:0006695)|estrogen biosynthetic process (GO:0006703)|small molecule metabolic process (GO:0044281) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) 3-keto sterol reductase activity (GO:0000253)|estradiol 17-beta-dehydrogenase activity (GO:0004303) endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1) 9 all_hematologic(112;0.115) ATATGTTTAAGGGTTGGGAAA 0.333 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF098786 CCDS1242.1 1q23 2011-09-14 ENSG00000132196 ENSG00000132196 51478 1.1.1.270 Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2 5215 protein-coding gene gene with protein product short chain dehydrogenase/reductase family 37C, member 1 606756 NA 10544267, 10419022, 19027726 Standard NM_016371 NM_016371 NA Approved PRAP, SDR37C1 uc001gci.3 P56937 OTTHUMG00000034420 ENST00000254521.3:c.747+71G>A chr1.hg19:g.162773396G>A NA Q5T246|Q7Z4V9|Q8WWS2|Q9UF00 hg19 CCDS1242.1 0.02 2.329417 TAAxGGT COVERED NOVEL HSD17B7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000083207.1 0 4.213306 KEEP 0 0 0 14 462 GG 0.995343 0.993815 0 + 7 40 259 0 0 19.13896 68 60 2433 89 ENST00000254521.3 0.093333 0.998465 C1orf110 339512 __UNKNOWN__ __UNKNOWN__ 1 162822540 162822540 __UNKNOWN__ 3'UTR SNP A A C rs12134171 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:162822540A>C ENST00000367912.2 - 0 1170 C1orf110_ENST00000524691.1_Intron Q86UF4 CA110_HUMAN chromosome 1 open reading frame 110 NA NA endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2) 12 GGAACAGAGAACTAGGCTGAA 0.488 NA C||| 1652 0.329872 0.2602 0.3444 5008 , , NA 19094 0.251 NA 0.3658 False NA ,,, NA NA NA 2504 0.4581 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC040018 CCDS44269.1 1q23.3 2012-06-26 ENSG00000185860 ENSG00000185860 339512 28736 protein-coding gene gene with protein product NA 12477932 Standard NM_178550 NM_178550 NA Approved MGC48998 uc001gck.2 Q86UF4 OTTHUMG00000034421 ENST00000367912.2:c.*372T>G chr1.hg19:g.162822540A>C NA Q5JSG1|Q6ZW57 hg19 0.02 8.161641 AGAxCTA COVERED NOVEL C1orf110-001 KNOWN non_canonical_TEC|basic protein_coding NA protein_coding OTTHUMT00000083210.3 1 11.735619 KEEP 0 0 0 39 1237 AA 1 1 0 - 7 60 255 0 0 15.279057 220 60 7834 302 ENST00000367912.2 0.030837 1 RGS5 8490 __UNKNOWN__ __UNKNOWN__ 1 163138086 163138086 __UNKNOWN__ Silent SNP C C T rs147337729 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:163138086C>T ENST00000530507.1 - 2 184 c.117G>A c.(115-117)ccG>ccA p.P39P RP11-267N12.1_ENST00000415437.1_RNA|RGS5_ENST00000313961.5_Silent_p.P39P|RGS5_ENST00000367903.3_Silent_p.P59P|RGS5_ENST00000534288.1_5'UTR|RGS5_ENST00000527988.1_Intron O15539 RGS5_HUMAN regulator of G-protein signaling 5 39 NA positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032) cytoplasm (GO:0005737)|plasma membrane (GO:0005886) GTPase activator activity (GO:0005096) autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 20 LUSC - Lung squamous cell carcinoma(543;0.187) TCTCATTGTACGGAATGACAA 0.453 NA C||| 15 0.00299521 0.0015 0.0 5008 , , NA 15871 0.006 NA 0.0 False NA ,,, NA NA NA 2504 0.0072 NA NA NA NA 0 215 203 207 NA NA 1 NA 163138086 2203 4300 6503 SO:0001819 synonymous_variant AF030108 CCDS1244.1, CCDS55652.1, CCDS58041.1 1q23.1 2008-02-05 2007-08-14 ENSG00000143248 ENSG00000143248 8490 Regulators of G-protein signaling 10001 protein-coding gene gene with protein product 603276 regulator of G-protein signalling 5 NA 9747037 Standard NM_003617 NM_003617 NA Approved uc021pdt.1 O15539 OTTHUMG00000034441 ENST00000530507.1:c.117G>A chr1.hg19:g.163138086C>T NA E9PMP5|Q53XA9|Q599J0 hg19 CCDS58041.1 0.02 8.589862 GTAxGGA COVERED NOVEL RGS5-006 NOVEL basic|appris_candidate_longest|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000388636.1 1 15.349278 KEEP 0 0 0 51 1765 CC 1 1 0 - 10 60 373 0 0 24.117772 225 60 7738 351 ENST00000530507.1 0.042553 1 LMX1A 4009 __UNKNOWN__ __UNKNOWN__ 1 165218792 165218792 __UNKNOWN__ Silent SNP G G A rs10753668 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:165218792G>A ENST00000342310.3 - 4 731 c.349C>T c.(349-351)Ctg>Ttg p.L117L LMX1A_ENST00000294816.2_Silent_p.L117L|LMX1A_ENST00000367893.4_Silent_p.L117L NM_177398.3 NP_796372.1 Q8TE12 LMX1A_HUMAN LIM homeobox transcription factor 1, alpha 117 LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}. NA axon guidance (GO:0007411)|central nervous system neuron differentiation (GO:0021953)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|dopaminergic neuron differentiation (GO:0071542)|midbrain development (GO:0030901)|negative regulation of neuron differentiation (GO:0045665)|regulation of cell growth (GO:0001558)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270) NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4) 35 all_hematologic(923;0.248) AAGCAGCTCAGGTGGTATACA 0.552 NA G||| 1626 0.324681 0.1263 0.3545 5008 , , NA 19587 0.5605 NA 0.2406 False NA ,,, NA NA NA 2504 0.4151 NA NA NA NA 0 G , 709,3697 293.0+/-282.3 50,609,1544 52 51 51 349,349 3.7 1 1 dbSNP_120 51 2088,6512 361.6+/-332.4 234,1620,2446 no coding-synonymous,coding-synonymous LMX1A NM_001174069.1,NM_177398.3 , 284,2229,3990 AA,AG,GG 24.2791,16.0917,21.5055 , 117/383,117/383 165218792 2797,10209 2203 4300 6503 SO:0001819 synonymous_variant AY078391 CCDS1247.1 1q24.1 2011-06-20 ENSG00000162761 ENSG00000162761 4009 Homeoboxes / LIM class 6653 protein-coding gene gene with protein product 600298 LMX1 NA 7698771 Standard NM_177398 NM_177398 NA Approved LMX1.1 uc001gcz.2 Q8TE12 OTTHUMG00000034575 ENST00000342310.3:c.349C>T chr1.hg19:g.165218792G>A NA B3KXP6|Q0VDB5|Q5VWG4|Q8TE11 hg19 CCDS1247.1 0.02 18.22912 TCAxGTG COVERED NOVEL LMX1A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000083668.2 0 8.460975 KEEP 0 1 25 37 1340 GG 1 1 0 - 26 60 956 0 0 65.394952 404 60 15199 569 ENST00000342310.3 0.060465 1 RXRG 6258 __UNKNOWN__ __UNKNOWN__ 1 165398115 165398115 __UNKNOWN__ Silent SNP T T C rs113471 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:165398115T>C ENST00000359842.5 - 2 440 c.138A>G c.(136-138)acA>acG p.T46T NM_001256570.1|NM_006917.4 NP_001243499.1|NP_008848.1 P48443 RXRG_HUMAN retinoid X receptor, gamma 46 Modulating. {ECO:0000250}. NA gene expression (GO:0010467)|heart development (GO:0007507)|neuron differentiation (GO:0030182)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|skeletal muscle tissue development (GO:0007519)|transcription initiation from RNA polymerase II promoter (GO:0006367) nucleoplasm (GO:0005654) 9-cis retinoic acid receptor activity (GO:0004886)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270) endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 38 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tretinoin(DB00755) CTGGGGTATCTGTGTAGCTGG 0.602 NA C||| 1252 0.25 0.416 0.2896 5008 , , NA 17907 0.246 NA 0.1531 False NA ,,, NA NA NA 2504 0.1012 NA NA NA NA 0 C 1531,2875 672.4+/-402.6 254,1023,926 64 59 61 138 -6.1 0.7 1 dbSNP_79 61 1321,7279 757.8+/-407.5 113,1095,3092 no coding-synonymous RXRG NM_006917.4 367,2118,4018 CC,CT,TT 15.3605,34.7481,21.9283 46/464 165398115 2852,10154 2203 4300 6503 SO:0001819 synonymous_variant U38480 CCDS1248.1, CCDS72970.1 1q22-q23 2013-01-16 ENSG00000143171 ENSG00000143171 6258 Nuclear hormone receptors 10479 protein-coding gene gene with protein product nuclear receptor subfamily 2 group B member 3 180247 NA 8034312 Standard NM_006917 NR_033824 NA Approved NR2B3 uc001gda.3 P48443 OTTHUMG00000034626 ENST00000359842.5:c.138A>G chr1.hg19:g.165398115T>C NA A6NIP1|Q6IBU7 hg19 CCDS1248.1 0.02 9.239469 ATCxGTG COVERED NOVEL RXRG-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000083794.2 0 11.434094 KEEP 0 0 0 38 1186 TT 1 1 0 - 8 60 298 0 0 18.73325 210 60 7863 319 ENST00000359842.5 0.036697 1 ALDH9A1 223 __UNKNOWN__ __UNKNOWN__ 1 165631670 165631670 __UNKNOWN__ 3'UTR SNP T T G rs12670 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:165631670T>G ENST00000354775.4 - 0 2478 NM_000696.3 NP_000687.3 P49189 AL9A1_HUMAN aldehyde dehydrogenase 9 family, member A1 NA NA carnitine biosynthetic process (GO:0045329)|cellular aldehyde metabolic process (GO:0006081)|cellular nitrogen compound metabolic process (GO:0034641)|hormone metabolic process (GO:0042445)|kidney development (GO:0001822)|liver development (GO:0001889)|neurotransmitter biosynthetic process (GO:0042136)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739) 1-pyrroline dehydrogenase activity (GO:0033737)|3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|4-trimethylammoniobutyraldehyde dehydrogenase activity (GO:0047105)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|amine binding (GO:0043176)|aminobutyraldehyde dehydrogenase activity (GO:0019145)|NAD binding (GO:0051287) endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1) 21 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) ATCTATTATCTAATCCCCTCC 0.393 NA T||| 1910 0.38139 0.2617 0.3847 5008 , , NA 19304 0.8185 NA 0.1223 False NA ,,, NA NA NA 2504 0.3569 NA NA NA Ovarian(179;1583 2014 18106 33801 42447) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U34252 CCDS1250.2 1q22-q23 2008-02-05 ENSG00000143149 ENSG00000143149 223 Aldehyde dehydrogenases 412 protein-coding gene gene with protein product 602733 ALDH7, ALDH4, ALDH9 NA 8112751, 8786138 Standard NM_000696 NA Approved E3 uc001gdh.1 P49189 OTTHUMG00000034677 ENST00000354775.4:c.*617A>C chr1.hg19:g.165631670T>G NA B2R6X1|B4DXY7|Q5VV90|Q6LCL1|Q9NZT7 hg19 CCDS1250.2 0.02 6.532771 ATCxAAT COVERED NOVEL ALDH9A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000083899.1 0 9.026897 KEEP 0 0 0 30 929 TT 0.999997 0.999997 0 - 12 60 426 1 0 29.050016 173 60 6234 252 ENST00000354775.4 0.064865 1 ALDH9A1 223 __UNKNOWN__ __UNKNOWN__ 1 165652273 165652273 __UNKNOWN__ Silent SNP A A G rs1143659 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:165652273A>G ENST00000354775.4 - 3 706 c.402T>C c.(400-402)atT>atC p.I134I ALDH9A1_ENST00000538148.1_Silent_p.I40I|ALDH9A1_ENST00000461664.1_5'UTR NM_000696.3 NP_000687.3 P49189 AL9A1_HUMAN aldehyde dehydrogenase 9 family, member A1 110 NA carnitine biosynthetic process (GO:0045329)|cellular aldehyde metabolic process (GO:0006081)|cellular nitrogen compound metabolic process (GO:0034641)|hormone metabolic process (GO:0042445)|kidney development (GO:0001822)|liver development (GO:0001889)|neurotransmitter biosynthetic process (GO:0042136)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739) 1-pyrroline dehydrogenase activity (GO:0033737)|3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|4-trimethylammoniobutyraldehyde dehydrogenase activity (GO:0047105)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|amine binding (GO:0043176)|aminobutyraldehyde dehydrogenase activity (GO:0019145)|NAD binding (GO:0051287) endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1) 21 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) AGGAAATGTCAATGTCCAAGC 0.498 NA G||| 3737 0.746206 0.6074 0.7723 5008 , , NA 19261 0.9881 NA 0.6372 False NA ,,, NA NA NA 2504 0.7781 NA NA NA Ovarian(179;1583 2014 18106 33801 42447) NA 0 G 2776,1630 503.9+/-365.7 882,1012,309 129 112 118 402 -1.6 0.1 1 dbSNP_86 118 5680,2920 455.2+/-363.7 1859,1962,479 no coding-synonymous ALDH9A1 NM_000696.3 2741,2974,788 GG,GA,AA 33.9535,36.995,34.9839 134/519 165652273 8456,4550 2203 4300 6503 SO:0001819 synonymous_variant U34252 CCDS1250.2 1q22-q23 2008-02-05 ENSG00000143149 ENSG00000143149 223 Aldehyde dehydrogenases 412 protein-coding gene gene with protein product 602733 ALDH7, ALDH4, ALDH9 NA 8112751, 8786138 Standard NM_000696 NA Approved E3 uc001gdh.1 P49189 OTTHUMG00000034677 ENST00000354775.4:c.402T>C chr1.hg19:g.165652273A>G NA B2R6X1|B4DXY7|Q5VV90|Q6LCL1|Q9NZT7 hg19 CCDS1250.2 0.02 9.061555 GTCxATG COVERED NOVEL ALDH9A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000083899.1 0 8.059888 KEEP 0 1 35 39 1237 AA 1 1 0 - 12 60 413 0 0 27.244318 191 60 7096 295 ENST00000354775.4 0.059113 1 ALDH9A1 223 __UNKNOWN__ __UNKNOWN__ 1 165652445 165652445 __UNKNOWN__ Intron SNP A A G rs4233407 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:165652445A>G ENST00000354775.4 - 3 632 ALDH9A1_ENST00000538148.1_Intron|ALDH9A1_ENST00000461664.1_Intron NM_000696.3 NP_000687.3 P49189 AL9A1_HUMAN aldehyde dehydrogenase 9 family, member A1 NA NA carnitine biosynthetic process (GO:0045329)|cellular aldehyde metabolic process (GO:0006081)|cellular nitrogen compound metabolic process (GO:0034641)|hormone metabolic process (GO:0042445)|kidney development (GO:0001822)|liver development (GO:0001889)|neurotransmitter biosynthetic process (GO:0042136)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739) 1-pyrroline dehydrogenase activity (GO:0033737)|3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|4-trimethylammoniobutyraldehyde dehydrogenase activity (GO:0047105)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|amine binding (GO:0043176)|aminobutyraldehyde dehydrogenase activity (GO:0019145)|NAD binding (GO:0051287) endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1) 21 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) TTTAAAACTAAAAATAGCTTT 0.323 NA G||| 3736 0.746006 0.6074 0.7723 5008 , , NA 21634 0.9881 NA 0.6362 False NA ,,, NA NA NA 2504 0.7781 NA NA NA Ovarian(179;1583 2014 18106 33801 42447) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U34252 CCDS1250.2 1q22-q23 2008-02-05 ENSG00000143149 ENSG00000143149 223 Aldehyde dehydrogenases 412 protein-coding gene gene with protein product 602733 ALDH7, ALDH4, ALDH9 NA 8112751, 8786138 Standard NM_000696 NA Approved E3 uc001gdh.1 P49189 OTTHUMG00000034677 ENST00000354775.4:c.328-98T>C chr1.hg19:g.165652445A>G NA B2R6X1|B4DXY7|Q5VV90|Q6LCL1|Q9NZT7 hg19 CCDS1250.2 0.02 4.193441 CTAxAAA COVERED NOVEL ALDH9A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000083899.1 1 3.004776 KEEP 0 0 0 10 263 AA 0.992708 0.992702 0 - 5 60 179 0 0 11.41639 107 60 3772 124 ENST00000354775.4 0.044643 0.999995 RP11-466F5.6 0 __UNKNOWN__ __UNKNOWN__ 1 165677673 165677673 __UNKNOWN__ RNA SNP C C T rs12027066 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:165677673C>T ENST00000400982.2 + 0 407 NR_036683.1 NA NA NA CTTCGATATCCGGACAGACAG 0.512 NA C||| 958 0.191294 0.0378 0.134 5008 , , NA 20243 0.6359 NA 0.0527 False NA ,,, NA NA NA 2504 0.1237 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000400982.2: chr1.hg19:g.165677673C>T NA hg19 0.02 2.059449 ATCxGGA COVERED NOVEL RP11-466F5.6-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000467303.1 0 3.611588 KEEP 0 0 0 12 408 CC 0.993634 0.993124 0 + 5 60 183 0 0 12.482828 78 60 2787 116 ENST00000400982.2 0.060241 0.999487 RP11-466F5.6 0 __UNKNOWN__ __UNKNOWN__ 1 165677731 165677731 __UNKNOWN__ RNA SNP A A C rs12044709 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:165677731A>C ENST00000400982.2 + 0 407 NR_036683.1 NA NA NA CATGGATATGACCGGCCTGGC 0.488 NA A||| 958 0.191294 0.0378 0.134 5008 , , NA 19972 0.6359 NA 0.0527 False NA ,,, NA NA NA 2504 0.1237 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000400982.2: chr1.hg19:g.165677731A>C NA hg19 0.02 2.276751 ATGxCCG COVERED NOVEL RP11-466F5.6-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000467303.1 0 3.008337 KEEP 0 0 0 10 302 AA 0.992708 0.99203 0 + 4 60 151 0 0 10.093754 77 60 2722 107 ENST00000400982.2 0.049383 0.999317 POGK 57645 __UNKNOWN__ __UNKNOWN__ 1 166818566 166818566 __UNKNOWN__ Silent SNP A A G rs2075946 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:166818566A>G ENST00000367875.1 + 5 1110 c.750A>G c.(748-750)gcA>gcG p.A250A POGK_ENST00000537173.1_Silent_p.A132A|POGK_ENST00000536514.1_Silent_p.A165A|POGK_ENST00000367876.4_Silent_p.A250A Q9P215 POGK_HUMAN pogo transposable element with KRAB domain 250 HTH CENPB-type. {ECO:0000255|PROSITE- ProRule:PRU00583}. NA multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355) nucleus (GO:0005634) DNA binding (GO:0003677) endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 22 TGCGGCGGGCATTCCGAGGCC 0.577 NA A||| 1386 0.276757 0.152 0.17 5008 , , NA 19070 0.5565 NA 0.162 False NA ,,, NA NA NA 2504 0.3507 NA NA NA GBM(76;192 1530 30153 48742) NA 0 A 769,3637 285.5+/-278.2 61,647,1495 38 41 40 750 -11 0 1 dbSNP_96 40 1593,7007 271.9+/-289.8 144,1305,2851 no coding-synonymous POGK NM_017542.3 205,1952,4346 GG,GA,AA 18.5233,17.4535,18.1608 250/610 166818566 2362,10644 2203 4300 6503 SO:0001819 synonymous_variant AB040946 CCDS1254.1 1q23.2 2013-01-08 ENSG00000143157 ENSG00000143157 57645 - 18800 protein-coding gene gene with protein product KRAB box domain containing 2 NA Standard NM_017542 NM_017542 NA Approved KIAA15131, LST003, BASS2, KRBOX2 uc001gdt.1 Q9P215 OTTHUMG00000034325 ENST00000367875.1:c.750A>G chr1.hg19:g.166818566A>G NA Q5TIJ1|Q8TE07 hg19 CCDS1254.1 0.02 17.038032 GGCxTTC COVERED NOVEL POGK-003 KNOWN alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000082888.1 2 37.908286 KEEP 0 0 0 126 3820 AA 1 1 0 + 15 60 537 0 0 32.806079 403 60 14334 647 ENST00000367875.1 0.035885 1 POGK 57645 __UNKNOWN__ __UNKNOWN__ 1 166822183 166822183 __UNKNOWN__ 3'UTR SNP G G A rs10918585 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:166822183G>A ENST00000367875.1 + 0 4727 POGK_ENST00000537173.1_3'UTR|POGK_ENST00000367876.4_3'UTR Q9P215 POGK_HUMAN pogo transposable element with KRAB domain NA NA multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355) nucleus (GO:0005634) DNA binding (GO:0003677) endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 22 CAACACCAACGAGGGACTCAT 0.373 NA A||| 3717 0.742212 0.9145 0.5231 5008 , , NA 20509 0.876 NA 0.6034 False NA ,,, NA NA NA 2504 0.6697 NA NA NA GBM(76;192 1530 30153 48742) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB040946 CCDS1254.1 1q23.2 2013-01-08 ENSG00000143157 ENSG00000143157 57645 - 18800 protein-coding gene gene with protein product KRAB box domain containing 2 NA Standard NM_017542 NM_017542 NA Approved KIAA15131, LST003, BASS2, KRBOX2 uc001gdt.1 Q9P215 OTTHUMG00000034325 ENST00000367875.1:c.*2537G>A chr1.hg19:g.166822183G>A NA Q5TIJ1|Q8TE07 hg19 CCDS1254.1 0.02 6.123595 AACxAGG COVERED NOVEL POGK-003 KNOWN alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000082888.1 2 7.859804 KEEP 0 1 31 37 1265 GG 1 1 0 + 7 60 250 0 0 16.001074 146 60 5175 231 ENST00000367875.1 0.045752 1 TADA1 117143 __UNKNOWN__ __UNKNOWN__ 1 166827602 166827602 __UNKNOWN__ Intron SNP A A T rs10800270 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:166827602A>T ENST00000367874.4 - 7 786 TADA1_ENST00000467021.1_Intron NM_053053.3 NP_444281.1 Q96BN2 TADA1_HUMAN transcriptional adaptor 1 NA NA chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|STAGA complex (GO:0030914) transcription coactivator activity (GO:0003713) endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1) 11 AATCTTATTTAAAAAATCTTT 0.323 NA a||| 1409 0.28135 0.1596 0.1729 5008 , , NA 17949 0.5754 NA 0.161 False NA ,,, NA NA NA 2504 0.3436 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC015401 CCDS1255.1 1q24.1 2009-10-02 2009-10-02 2009-10-02 ENSG00000152382 ENSG00000152382 117143 30631 protein-coding gene gene with protein product 612763 transcriptional adaptor 1 (HFI1 homolog, yeast)-like, transcriptional adaptor 1 (HFI1 homolog, yeast) TADA1L NA 11564863 Standard NM_053053 NM_053053 NA Approved STAF42, ADA1, hADA1, HFI1 uc001gdw.3 Q96BN2 OTTHUMG00000034321 ENST00000367874.4:c.693-84T>A chr1.hg19:g.166827602A>T NA A8K4J9 hg19 CCDS1255.1 0.02 2.294276 TTTxAAA COVERED NOVEL TADA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000082881.1 0 7.823192 KEEP 0 0 0 26 798 AA 0.999957 0.999067 0 - 6 60 219 0 0 15.545616 73 60 2634 130 ENST00000367874.4 0.075949 0.99911 TADA1 117143 __UNKNOWN__ __UNKNOWN__ 1 166829522 166829522 __UNKNOWN__ Missense_Mutation SNP C C T rs2272792 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:166829522C>T ENST00000367874.4 - 6 686 c.593G>A c.(592-594)cGg>cAg p.R198Q TADA1_ENST00000467021.1_5'UTR NM_053053.3 NP_444281.1 Q96BN2 TADA1_HUMAN transcriptional adaptor 1 198 NA R -> Q (in dbSNP:rs2272792). chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|STAGA complex (GO:0030914) transcription coactivator activity (GO:0003713) endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1) 11 ATCTCGTAACCGATAAGCTTT 0.368 NA C||| 176 0.0351438 0.0 0.0187 5008 , , NA 19844 0.1171 NA 0.0099 False NA ,,, NA NA NA 2504 0.0358 NA NA NA NA 0 C GLN/ARG 6,4400 11.4+/-27.6 0,6,2197 122 105 111 593 5.7 0.3 1 dbSNP_100 111 104,8496 57.2+/-118.5 0,104,4196 yes missense TADA1 NM_053053.3 43 0,110,6393 TT,TC,CC 1.2093,0.1362,0.8458 probably-damaging 198/336 166829522 110,12896 2203 4300 6503 SO:0001583 missense BC015401 CCDS1255.1 1q24.1 2009-10-02 2009-10-02 2009-10-02 ENSG00000152382 ENSG00000152382 117143 30631 protein-coding gene gene with protein product 612763 transcriptional adaptor 1 (HFI1 homolog, yeast)-like, transcriptional adaptor 1 (HFI1 homolog, yeast) TADA1L NA 11564863 Standard NM_053053 NM_053053 NA Approved STAF42, ADA1, hADA1, HFI1 uc001gdw.3 Q96BN2 OTTHUMG00000034321 ENST00000367874.4:c.593G>A chr1.hg19:g.166829522C>T ENSP00000356848:p.Arg198Gln NA A8K4J9 hg19 CCDS1255.1 0.02 10.507395 AACxGAT COVERED 94 0.04304029304029304 0 0.0 8 0.022099447513812154 78 0.13636363636363635 8 0.010554089709762533 C 34 5.306289 0.95629 0.001362 0.012093 ENSG00000152382 ENST00000367874 T 0.50813 0.73 5.73 5.73 0.89815 . 0.000000 0.85682 D 0.000000 T 0.44350 0.1289 L 0.59436 1.845 0.45194 P 0.0018000000000000238 D 0.57571 0.98 P 0.47603 0.551 T 0.51364 -0.8715 9 0.66056 D 0.02 -4.1797 17.41 0.87482 0.0:1.0:0.0:0.0 rs2272792;rs2272792 198 Q96BN2 TADA1_HUMAN Q 198 ENSP00000356848:R198Q ENSP00000356848:R198Q R - 2 0 TADA1 165096146 1.000000 0.71417 0.281000 0.24762 0.962000 0.63368 5.472000 0.66768 2.710000 0.92621 0.650000 0.86243 CGG NOVEL TADA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000082881.1 1 21.669836 KEEP 0 0 0 72 2519 CC 1 1 0 - 8 60 297 0 0 17.640967 281 60 9842 468 ENST00000367874.4 0.027682 1 DUSP27 92235 __UNKNOWN__ __UNKNOWN__ 1 167095765 167095765 __UNKNOWN__ Missense_Mutation SNP G G A rs6668826 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:167095765G>A ENST00000361200.2 + 6 1563 c.1397G>A c.(1396-1398)cGc>cAc p.R466H DUSP27_ENST00000443333.1_Missense_Mutation_p.R466H|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.R466H Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 466 NA R -> H (in dbSNP:rs6668826). protein dephosphorylation (GO:0006470) protein tyrosine/serine/threonine phosphatase activity (GO:0008138) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 GGCAGGAGGCGCCGCGCAGAC 0.657 NA G||| 1648 0.329073 0.2716 0.2003 5008 , , NA 16759 0.7421 NA 0.168 False NA ,,, NA NA NA 2504 0.2382 NA NA NA NA 0 G HIS/ARG 1134,3270 156,822,1224 20 20 20 1397 -0.1 0.2 1 dbSNP_116 20 1470,7130 121,1228,2951 yes missense DUSP27 NM_001080426.1 29 277,2050,4175 AA,AG,GG 17.093,25.7493,20.0246 benign 466/1159 167095765 2604,10400 2202 4300 6502 SO:0001583 missense AF119045 CCDS30932.1 1q22-q24 2008-02-05 ENSG00000198842 ENSG00000198842 92235 25034 protein-coding gene gene with protein product NA Standard NM_001080426 NM_001080426 NA Approved uc001geb.1 Q5VZP5 OTTHUMG00000034434 ENST00000361200.2:c.1397G>A chr1.hg19:g.167095765G>A ENSP00000354483:p.Arg466His NA A0AUM4|Q9C074 hg19 CCDS30932.1 0.02 4.114136 GGCxCCG COVERED 770 0.3525641025641026 138 0.2804878048780488 74 0.20441988950276244 435 0.7604895104895105 123 0.16226912928759896 G 9.024 0.985628 0.18889 0.257493 0.17093 ENSG00000198842 ENST00000361200;ENST00000271385;ENST00000443333 T;T;T 0.03152 4.03;4.03;4.03 5.17 -0.114 0.13564 . 0.885835 0.09670 N 0.771269 T 0.00724 0.0024 N 0.17674 0.51 0.80722 P 0.0 B 0.11235 0.004 B 0.01281 0.0 T 0.46527 -0.9185 9 0.23891 T 0.37 -1.7364 5.0653 0.14578 0.3141:0.1417:0.5442:0.0 rs6668826;rs60156845;rs6668826 466 Q5VZP5 DUS27_HUMAN H 466 ENSP00000354483:R466H;ENSP00000271385:R466H;ENSP00000404874:R466H ENSP00000271385:R466H R + 2 0 DUSP27 165362389 0.000000 0.05858 0.172000 0.22920 0.278000 0.26855 0.147000 0.16202 -0.028000 0.13850 0.643000 0.83706 CGC NOVEL DUSP27-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000083244.1 4 7.489555 KEEP 0 0 0 25 843 GG 0.999931 0.999924 0 + 5 60 179 0 0 11.463082 105 60 3610 173 ENST00000361200.2 0.045455 0.999993 DUSP27 92235 __UNKNOWN__ __UNKNOWN__ 1 167095881 167095881 __UNKNOWN__ Missense_Mutation SNP G G A rs3795605 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:167095881G>A ENST00000361200.2 + 6 1679 c.1513G>A c.(1513-1515)Gca>Aca p.A505T DUSP27_ENST00000443333.1_Missense_Mutation_p.A505T|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.A505T Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 505 NA A -> T (in dbSNP:rs3795605). protein dephosphorylation (GO:0006470) protein tyrosine/serine/threonine phosphatase activity (GO:0008138) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 AGAGGAGGCGGCAGACAGGAG 0.602 NA G||| 1649 0.329273 0.2716 0.2003 5008 , , NA 17544 0.7431 NA 0.168 False NA ,,, NA NA NA 2504 0.2382 NA NA NA NA 0 G THR/ALA 1135,3271 404.2+/-333.0 155,825,1223 54 50 51 1513 -1 0 1 dbSNP_107 51 1464,7136 276.8+/-292.5 115,1234,2951 yes missense DUSP27 NM_001080426.1 58 270,2059,4174 AA,AG,GG 17.0233,25.7603,19.9831 benign 505/1159 167095881 2599,10407 2203 4300 6503 SO:0001583 missense AF119045 CCDS30932.1 1q22-q24 2008-02-05 ENSG00000198842 ENSG00000198842 92235 25034 protein-coding gene gene with protein product NA Standard NM_001080426 NM_001080426 NA Approved uc001geb.1 Q5VZP5 OTTHUMG00000034434 ENST00000361200.2:c.1513G>A chr1.hg19:g.167095881G>A ENSP00000354483:p.Ala505Thr NA A0AUM4|Q9C074 hg19 CCDS30932.1 0.02 3.988497 GCGxCAG COVERED 770 0.3525641025641026 138 0.2804878048780488 74 0.20441988950276244 435 0.7604895104895105 123 0.16226912928759896 G 6.531 0.466291 0.12402 0.257603 0.170233 ENSG00000198842 ENST00000361200;ENST00000271385;ENST00000443333 T;T;T 0.03035 4.07;4.07;4.07 1.3 -0.985 0.10256 . 1.384540 0.05035 N 0.475240 T 0.00845 0.0028 N 0.22421 0.69 0.80722 P 0.0 B 0.06786 0.001 B 0.04013 0.001 T 0.48670 -0.9015 9 0.42905 T 0.14 -1.7175 3.7835 0.08690 0.5587:0.0:0.4413:0.0 rs3795605;rs52789985;rs58508566;rs3795605 505 Q5VZP5 DUS27_HUMAN T 505 ENSP00000354483:A505T;ENSP00000271385:A505T;ENSP00000404874:A505T ENSP00000271385:A505T A + 1 0 DUSP27 165362505 0.142000 0.22610 0.008000 0.14137 0.008000 0.06430 0.659000 0.24994 -0.155000 0.11098 -0.148000 0.13756 GCA NOVEL DUSP27-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000083244.1 0 2.407825 KEEP 0 0 0 8 279 GG 0.99257 0.99257 0 + 5 60 181 0 0 11.390464 119 60 4323 145 ENST00000361200.2 0.040323 0.999999 DUSP27 92235 __UNKNOWN__ __UNKNOWN__ 1 167097739 167097739 __UNKNOWN__ Missense_Mutation SNP C C A rs2281959 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:167097739C>A ENST00000361200.2 + 6 3537 c.3371C>A c.(3370-3372)aCt>aAt p.T1124N DUSP27_ENST00000443333.1_Missense_Mutation_p.T1124N|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.T1124N Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 1124 NA T -> N (in dbSNP:rs2281959). protein dephosphorylation (GO:0006470) protein tyrosine/serine/threonine phosphatase activity (GO:0008138) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 CGGAGAAGCACTGACAGGGAG 0.517 NA C||| 1914 0.382188 0.2776 0.2867 5008 , , NA 20287 0.7431 NA 0.3141 False NA ,,, NA NA NA 2504 0.2894 NA NA NA NA 0 C ASN/THR 1248,3158 428.7+/-342.0 181,886,1136 46 42 43 3371 0.9 0.4 1 dbSNP_100 43 2668,5932 425.7+/-355.0 433,1802,2065 yes missense DUSP27 NM_001080426.1 65 614,2688,3201 AA,AC,CC 31.0233,28.325,30.1092 probably-damaging 1124/1159 167097739 3916,9090 2203 4300 6503 SO:0001583 missense AF119045 CCDS30932.1 1q22-q24 2008-02-05 ENSG00000198842 ENSG00000198842 92235 25034 protein-coding gene gene with protein product NA Standard NM_001080426 NM_001080426 NA Approved uc001geb.1 Q5VZP5 OTTHUMG00000034434 ENST00000361200.2:c.3371C>A chr1.hg19:g.167097739C>A ENSP00000354483:p.Thr1124Asn NA A0AUM4|Q9C074 hg19 CCDS30932.1 0.02 12.551227 GCAxTGA COVERED 917 0.4198717948717949 142 0.2886178861788618 117 0.32320441988950277 435 0.7604895104895105 223 0.2941952506596306 C 5.249 0.231340 0.09969 0.28325 0.310233 ENSG00000198842 ENST00000361200;ENST00000271385;ENST00000443333 T;T;T 0.03580 3.88;3.88;3.88 5.4 0.916 0.19373 . 0.385319 0.22313 N 0.061703 T 0.01523 0.0049 M 0.63428 1.95 0.80722 P 0.0 B 0.06786 0.001 B 0.06405 0.002 T 0.33085 -0.9882 9 0.87932 D 0 -3.2628 4.6731 0.12699 0.3827:0.4217:0.1241:0.0714 rs2281959;rs52811569;rs60867293;rs2281959 1124 Q5VZP5 DUS27_HUMAN N 1124 ENSP00000354483:T1124N;ENSP00000271385:T1124N;ENSP00000404874:T1124N ENSP00000271385:T1124N T + 2 0 DUSP27 165364363 0.002000 0.14202 0.363000 0.25875 0.335000 0.28730 0.036000 0.13819 0.198000 0.20407 -0.335000 0.08231 ACT NOVEL DUSP27-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000083244.1 0 3.545169 KEEP 0 1 26 21 746 CC 0.999879 0.999879 0 + 15 60 537 0 0 34.410456 313 60 11582 385 ENST00000361200.2 0.045732 1 POU2F1 5451 __UNKNOWN__ __UNKNOWN__ 1 167393700 167393700 __UNKNOWN__ 3'UTR SNP G G A rs144141173 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:167393700G>A ENST00000367862.5 + 0 11156 POU2F1_ENST00000367866.2_3'UTR|POU2F1_ENST00000367865.1_3'UTR NM_001198783.1 NP_001185712.1 P14859 PO2F1_HUMAN POU class 2 homeobox 1 NA NA gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase III promoter (GO:0006383) cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 30 AGTAGTGAAGGCTAGGTGAGT 0.517 NA G||| 20 0.00399361 0.0 0.0 5008 , , NA 21306 0.0198 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC001664 CCDS1259.1, CCDS1259.2, CCDS55655.1, CCDS55656.1 1q24.2 2011-06-20 2007-07-13 ENSG00000143190 ENSG00000143190 5451 Homeoboxes / POU class 9212 protein-coding gene gene with protein product 164175 POU domain class 2, transcription factor 1 OTF1 NA 1887216 Standard NM_002697 NM_002697 NA Approved OCT1 uc001gee.3 P14859 OTTHUMG00000034436 ENST00000367862.5:c.*8653G>A chr1.hg19:g.167393700G>A NA B1AL91|B1AL93|B4E029|J3KP77|Q5TBT7|Q6PK46|Q8NEU9|Q9BPV1 hg19 CCDS55656.1 0.02 11.494505 AAGxCTA COVERED NOVEL POU2F1-003 KNOWN basic|appris_candidate|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000083248.2 0 11.437014 KEEP 0 0 0 38 1335 GG 1 1 0 + 14 60 463 0 0 27.766566 321 60 11860 414 ENST00000367862.5 0.041791 1 RCSD1 92241 __UNKNOWN__ __UNKNOWN__ 1 167663401 167663401 __UNKNOWN__ Silent SNP G G A rs184800826 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:167663401G>A ENST00000367854.3 + 5 667 c.336G>A c.(334-336)aaG>aaA p.K112K RCSD1_ENST00000537350.1_Silent_p.K82K NM_052862.3 NP_443094.3 Q6JBY9 CPZIP_HUMAN RCSD domain containing 1 112 NA cellular hyperosmotic response (GO:0071474)|skeletal muscle contraction (GO:0003009) actin filament (GO:0005884) actin filament binding (GO:0051015) NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 24 all_hematologic(923;0.215) CTGGACTCAAGGCTATGGTGT 0.552 NA G||| 7 0.00139776 0.0 0.0 5008 , , NA 21650 0.0069 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 86 81 83 NA NA 1 NA 167663401 2203 4300 6503 SO:0001819 synonymous_variant BC072399 CCDS1263.1 1q24.2 2008-02-05 ENSG00000198771 ENSG00000198771 92241 28310 protein-coding gene gene with protein product 610579 NA 12477932 Standard NM_052862 NM_052862 NA Approved MK2S4, MGC21854 uc001gem.3 Q6JBY9 OTTHUMG00000035318 ENST00000367854.3:c.336G>A chr1.hg19:g.167663401G>A NA B1AK48|Q4G0E7|Q6IN93|Q8IZM2|Q96DX0|Q9NST4 hg19 CCDS1263.1 0.02 12.756313 CAAxGCT COVERED NOVEL RCSD1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000085451.1 3 13.243255 KEEP 0 0 0 44 1578 GG 1 1 0 + 11 60 392 0 0 23.72971 305 60 11757 467 ENST00000367854.3 0.03481 1 ADCY10 55811 __UNKNOWN__ __UNKNOWN__ 1 167825606 167825606 __UNKNOWN__ Silent SNP A A G rs2071922 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:167825606A>G ENST00000367851.4 - 17 2152 c.1968T>C c.(1966-1968)ttT>ttC p.F656F ADCY10_ENST00000545172.1_Silent_p.F503F|ADCY10_ENST00000367848.1_Silent_p.F564F NM_018417.4 NP_060887.2 Q96PN6 ADCYA_HUMAN adenylate cyclase 10 (soluble) 656 NA cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283) apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886) adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145) autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 GCTTCTCCATAAATCTCCAGG 0.433 NA A||| 1043 0.208267 0.0756 0.2752 5008 , , NA 20424 0.4177 NA 0.1272 False NA ,,, NA NA NA 2504 0.2076 NA NA NA NA 0 A , 417,3989 203.1+/-225.7 18,381,1804 179 181 181 1509,1968 -7.4 0 1 dbSNP_96 181 964,7636 211.1+/-251.8 64,836,3400 no coding-synonymous,coding-synonymous ADCY10 NM_001167749.1,NM_018417.4 , 82,1217,5204 GG,GA,AA 11.2093,9.4644,10.6182 , 503/1458,656/1611 167825606 1381,11625 2203 4300 6503 SO:0001819 synonymous_variant AF271058 CCDS1265.1, CCDS53426.1, CCDS72977.1 1q24 2013-02-04 ENSG00000143199 ENSG00000143199 55811 4.6.1.1 Adenylate cyclases 21285 protein-coding gene gene with protein product soluble adenylyl cyclase, Hypercalciuria, absorptive, 2 605205 NA Standard NM_018417 XM_006711449 NA Approved SAC, Sacy, SACI, HCA2, RP1-313L4.2 uc001ger.3 Q96PN6 OTTHUMG00000034573 ENST00000367851.4:c.1968T>C chr1.hg19:g.167825606A>G NA B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0 hg19 CCDS1265.1 0.02 9.276696 CATxAAT COVERED NOVEL ADCY10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000083663.1 0 6.01436 KEEP 0 0 0 20 599 AA 0.999863 0.999863 0 - 9 60 345 0 0 22.388672 216 60 7796 291 ENST00000367851.4 0.04 1 ADCY10 55811 __UNKNOWN__ __UNKNOWN__ 1 167849701 167849701 __UNKNOWN__ Intron SNP G G A rs203850 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:167849701G>A ENST00000367851.4 - 10 1324 ADCY10_ENST00000545172.1_Intron|ADCY10_ENST00000367848.1_Intron NM_018417.4 NP_060887.2 Q96PN6 ADCYA_HUMAN adenylate cyclase 10 (soluble) NA NA cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283) apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886) adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145) autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 GTCAGGGACCGCTGGGTGGGA 0.463 NA A||| 795 0.158746 0.497 0.0576 5008 , , NA 19677 0.0605 NA 0.008 False NA ,,, NA NA NA 2504 0.0297 NA NA NA NA 0 A , 1775,2631 643.7+/-397.9 352,1071,780 74 75 74 , 0.6 0 1 dbSNP_79 74 60,8540 816.7+/-406.9 1,58,4241 no intron,intron ADCY10 NM_001167749.1,NM_018417.4 , 353,1129,5021 AA,AG,GG 0.6977,40.286,14.1089 , , 167849701 1835,11171 2203 4300 6503 SO:0001627 intron_variant AF271058 CCDS1265.1, CCDS53426.1, CCDS72977.1 1q24 2013-02-04 ENSG00000143199 ENSG00000143199 55811 4.6.1.1 Adenylate cyclases 21285 protein-coding gene gene with protein product soluble adenylyl cyclase, Hypercalciuria, absorptive, 2 605205 NA Standard NM_018417 XM_006711449 NA Approved SAC, Sacy, SACI, HCA2, RP1-313L4.2 uc001ger.3 Q96PN6 OTTHUMG00000034573 ENST00000367851.4:c.1139+27C>T chr1.hg19:g.167849701G>A NA B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0 hg19 CCDS1265.1 0.02 6.526311 ACCxCTG COVERED NOVEL ADCY10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000083663.1 1 6.018904 KEEP 0 0 0 20 679 GG 0.999863 0.999863 0 - 9 60 309 0 0 20.106779 155 60 5415 225 ENST00000367851.4 0.054878 1 ADCY10 55811 __UNKNOWN__ __UNKNOWN__ 1 167852655 167852655 __UNKNOWN__ Intron SNP A A T rs79093040 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:167852655A>T ENST00000367851.4 - 9 1205 ADCY10_ENST00000545172.1_Intron|ADCY10_ENST00000367848.1_Intron NM_018417.4 NP_060887.2 Q96PN6 ADCYA_HUMAN adenylate cyclase 10 (soluble) NA NA cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283) apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886) adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145) autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 GTAGGTTCCCATCCCATAGTT 0.438 NA A||| 93 0.0185703 0.0 0.0101 5008 , , NA 21727 0.0625 NA 0.002 False NA ,,, NA NA NA 2504 0.0215 NA NA NA NA 0 A , 7,4399 12.9+/-30.5 0,7,2196 138 124 129 , -3.6 0 1 dbSNP_131 129 9,8591 7.1+/-27.0 0,9,4291 no intron,intron ADCY10 NM_001167749.1,NM_018417.4 , 0,16,6487 TT,TA,AA 0.1047,0.1589,0.123 , , 167852655 16,12990 2203 4300 6503 SO:0001627 intron_variant AF271058 CCDS1265.1, CCDS53426.1, CCDS72977.1 1q24 2013-02-04 ENSG00000143199 ENSG00000143199 55811 4.6.1.1 Adenylate cyclases 21285 protein-coding gene gene with protein product soluble adenylyl cyclase, Hypercalciuria, absorptive, 2 605205 NA Standard NM_018417 XM_006711449 NA Approved SAC, Sacy, SACI, HCA2, RP1-313L4.2 uc001ger.3 Q96PN6 OTTHUMG00000034573 ENST00000367851.4:c.1020+19T>A chr1.hg19:g.167852655A>T NA B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0 hg19 CCDS1265.1 0.02 8.836956 CCCxTCC COVERED NOVEL ADCY10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000083663.1 1 11.098788 KEEP 0 0 0 37 1124 AA 1 1 0 - 15 60 535 0 0 36.320099 226 60 8249 326 ENST00000367851.4 0.062241 1 MPC2 25874 __UNKNOWN__ __UNKNOWN__ 1 167887416 167887416 __UNKNOWN__ 3'UTR SNP C C T rs1050037 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:167887416C>T ENST00000367846.4 - 0 727 MPC2_ENST00000271373.4_3'UTR NM_015415.3 NP_056230.1 O95563 MPC2_HUMAN mitochondrial pyruvate carrier 2 NA NA cellular metabolic process (GO:0044237)|mitochondrial pyruvate transport (GO:0006850)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281) integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634) pyruvate transmembrane transporter activity (GO:0050833) NA AAGTTTGCTGCATTTTTCTAT 0.323 NA T||| 745 0.148762 0.3298 0.0951 5008 , , NA 19775 0.0496 NA 0.1113 False NA ,,, NA NA NA 2504 0.0828 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS1266.1 1q24 2012-07-30 2012-07-30 2012-07-30 ENSG00000143158 ENSG00000143158 25874 24515 protein-coding gene gene with protein product 614737 brain protein 44 BRP44 NA 3022128, 22628558 Standard NM_015415 NM_015415 NA Approved DKFZP564B167 uc001get.3 O95563 OTTHUMG00000034570 ENST00000367846.4:c.*145G>A chr1.hg19:g.167887416C>T NA A8K261|Q3SXR6|Q6FIF3 hg19 CCDS1266.1 0.02 19.794904 CTGxATT COVERED NOVEL MPC2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000083652.1 6 16.232377 KEEP 0 0 0 54 1876 CC 1 1 0 - 16 60 563 0 0 33.065123 494 60 18346 623 ENST00000367846.4 0.031373 1 DCAF6 55827 __UNKNOWN__ __UNKNOWN__ 1 168034763 168034763 __UNKNOWN__ Intron SNP G G A rs370952 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:168034763G>A ENST00000367840.3 + 19 2533 DCAF6_ENST00000367843.3_Intron|DCAF6_ENST00000312263.6_Intron|DCAF6_ENST00000432587.2_Intron NM_001198956.1 NP_001185885.1 Q58WW2 DCAF6_HUMAN DDB1 and CUL4 associated factor 6 NA NA positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567) Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634) ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374) NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 AAATGTAAGAGTAGCATAAAT 0.264 NA A||| 732 0.146166 0.4228 0.0504 5008 , , NA 16003 0.0565 NA 0.0159 False NA ,,, NA NA NA 2504 0.0665 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL136738 CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1 1q23.3 2013-01-09 2009-07-17 2009-07-17 ENSG00000143164 ENSG00000143164 55827 WD repeat domain containing, DDB1 and CUL4 associated factors 30002 protein-coding gene gene with protein product 610494 IQ motif and WD repeats 1 IQWD1 NA 12032826 Standard NM_018442 NM_018442 NA Approved PC326 uc001gex.3 Q58WW2 OTTHUMG00000034572 ENST00000367840.3:c.2440-65G>A chr1.hg19:g.168034763G>A NA A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19 hg19 CCDS55657.1 0.02 1.716206 AGAxTAG COVERED NOVEL DCAF6-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000083659.3 0 8.728319 KEEP 0 0 0 29 1038 GG 0.999997 0.999765 0 + 5 60 178 0 0 11.852382 83 60 3115 124 ENST00000367840.3 0.056818 0.999768 DCAF6 55827 __UNKNOWN__ __UNKNOWN__ 1 168034974 168034974 __UNKNOWN__ Silent SNP G G A rs77064095 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:168034974G>A ENST00000367840.3 + 19 2680 c.2586G>A c.(2584-2586)ccG>ccA p.P862P DCAF6_ENST00000367843.3_Silent_p.P791P|DCAF6_ENST00000312263.6_Silent_p.P771P|DCAF6_ENST00000432587.2_Silent_p.P831P NM_001198956.1 NP_001185885.1 Q58WW2 DCAF6_HUMAN DDB1 and CUL4 associated factor 6 771 NA positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567) Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634) ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374) NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 AGCCACATCCGTTTGACCCAA 0.388 NA G||| 93 0.0185703 0.0 0.0029 5008 , , NA 13718 0.0556 NA 0.002 False NA ,,, NA NA NA 2504 0.0337 NA NA NA NA 0 G ,,, 9,4397 15.5+/-35.6 0,9,2194 67 64 65 2313,2586,2493,2373 -10.8 0 1 dbSNP_131 65 9,8591 7.1+/-27.0 0,9,4291 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous DCAF6 NM_001017977.2,NM_001198956.1,NM_001198957.1,NM_018442.3 ,,, 0,18,6485 AA,AG,GG 0.1047,0.2043,0.1384 ,,, 771/861,862/952,831/921,791/881 168034974 18,12988 2203 4300 6503 SO:0001819 synonymous_variant AL136738 CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1 1q23.3 2013-01-09 2009-07-17 2009-07-17 ENSG00000143164 ENSG00000143164 55827 WD repeat domain containing, DDB1 and CUL4 associated factors 30002 protein-coding gene gene with protein product 610494 IQ motif and WD repeats 1 IQWD1 NA 12032826 Standard NM_018442 NM_018442 NA Approved PC326 uc001gex.3 Q58WW2 OTTHUMG00000034572 ENST00000367840.3:c.2586G>A chr1.hg19:g.168034974G>A NA A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19 hg19 CCDS55657.1 0.02 13.028349 TCCxTTT COVERED NOVEL DCAF6-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000083659.3 2 33.708377 KEEP 0 0 0 112 3881 GG 1 1 0 + 15 60 539 0 0 34.337586 327 60 12038 585 ENST00000367840.3 0.04386 1 GPR161 23432 __UNKNOWN__ __UNKNOWN__ 1 168056724 168056724 __UNKNOWN__ Intron SNP A A G rs275143 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:168056724A>G ENST00000367836.1 - 5 1455 GPR161_ENST00000271357.5_Intron|GPR161_ENST00000361697.2_Intron|GPR161_ENST00000539777.1_Intron|GPR161_ENST00000546300.1_Intron|GPR161_ENST00000367838.1_Intron|GPR161_ENST00000367835.1_Intron|GPR161_ENST00000537209.1_Intron NM_001267612.1 NP_001254541.1 Q8N6U8 GP161_HUMAN G protein-coupled receptor 161 NA NA G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|positive regulation of cAMP biosynthetic process (GO:0030819) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)|recycling endosome (GO:0055037) G-protein coupled receptor activity (GO:0004930) breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1) 26 all_hematologic(923;0.215) TGGAGCCCTGATATATTCCGG 0.522 NA G||| 2196 0.438498 0.7617 0.5461 5008 , , NA 20460 0.2163 NA 0.3539 False NA ,,, NA NA NA 2504 0.2413 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF091890 CCDS1268.1, CCDS58042.1, CCDS58043.1, CCDS58044.1, CCDS58045.1, CCDS72978.1 1q23.3 2012-08-21 ENSG00000143147 ENSG00000143147 23432 GPCR / Class A : Orphans 23694 protein-coding gene gene with protein product 612250 NA 11959142 Standard NM_007369 NM_153832 NA Approved RE2 uc009wvo.4 Q8N6U8 OTTHUMG00000034651 ENST00000367836.1:c.928+98T>C chr1.hg19:g.168056724A>G NA B3KV34|B7Z5D7|B7Z5E8|B7Z5Z6|F5GXD6|F5H6J7|O75963|Q5TGK0|Q5TGK1|Q5TGK2 hg19 CCDS58042.1 0.02 11.846217 CTGxTAT COVERED NOVEL GPR161-004 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000083831.1 3 20.761363 KEEP 0 0 0 69 2194 AA 1 1 0 - 11 60 379 0 0 22.238867 318 60 11342 433 ENST00000367836.1 0.033435 1 XCL1 6375 __UNKNOWN__ __UNKNOWN__ 1 168551236 168551236 __UNKNOWN__ 3'UTR SNP C C T rs982143 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:168551236C>T ENST00000367818.3 + 0 1288 NM_002995.2 NP_002986.1 P47992 XCL1_HUMAN chemokine (C motif) ligand 1 NA NA cell-cell signaling (GO:0007267)|cellular response to interleukin-4 (GO:0071353)|cellular response to transforming growth factor beta stimulus (GO:0071560)|immune response (GO:0006955)|mature natural killer cell chemotaxis (GO:0035782)|negative regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000562)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of T cell cytokine production (GO:0002725)|negative regulation of T-helper 1 cell activation (GO:2000518)|negative regulation of T-helper 1 type immune response (GO:0002826)|negative regulation of transcription, DNA-templated (GO:0045892)|neutrophil chemotaxis (GO:0030593)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000563)|positive regulation of CD8-positive, alpha-beta T cell proliferation (GO:2000566)|positive regulation of granzyme A production (GO:2000513)|positive regulation of granzyme B production (GO:0071663)|positive regulation of immunoglobulin production in mucosal tissue (GO:2000558)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of natural killer cell chemotaxis (GO:2000503)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 cell cytokine production (GO:2000556)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of thymocyte migration (GO:2000412)|positive regulation of transforming growth factor beta production (GO:0071636)|regulation of inflammatory response (GO:0050727)|release of sequestered calcium ion into cytosol (GO:0051209)|response to virus (GO:0009615)|signal transduction (GO:0007165) extracellular region (GO:0005576)|extracellular space (GO:0005615) chemokine activity (GO:0008009)|chemokine receptor binding (GO:0042379)|protein homodimerization activity (GO:0042803) kidney(2)|lung(7)|upper_aerodigestive_tract(1) 10 all_hematologic(923;0.208) CAAATGCTGACCCATGCAATA 0.363 NA C||| 599 0.119609 0.056 0.1513 5008 , , NA 19611 0.1935 NA 0.1014 False NA ,,, NA NA NA 2504 0.1258 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D43768 CCDS1274.1 1q24.2 2014-01-30 2002-08-22 2002-08-23 ENSG00000143184 ENSG00000143184 6375 Endogenous ligands 10645 protein-coding gene gene with protein product 600250 small inducible cytokine subfamily C, member 1 (lymphotactin) LTN, SCYC1 NA 7602097, 7875320 Standard NM_002995 NM_002995 NA Approved LPTN, ATAC, SCM-1a, SCM-1, lymphotactin uc001gfo.2 P47992 OTTHUMG00000034548 ENST00000367818.3:c.*778C>T chr1.hg19:g.168551236C>T NA Q52MA8 hg19 CCDS1274.1 0.02 5.962318 TGAxCCA COVERED NOVEL XCL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000083612.1 0 8.125652 KEEP 0 0 0 27 941 CC 0.999988 0.999988 0 + 6 60 222 0 0 13.445154 188 60 6937 266 ENST00000367818.3 0.030928 1 XCL1 6375 __UNKNOWN__ __UNKNOWN__ 1 168551240 168551240 __UNKNOWN__ 3'UTR SNP T T C rs78964347 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:168551240T>C ENST00000367818.3 + 0 1292 NM_002995.2 NP_002986.1 P47992 XCL1_HUMAN chemokine (C motif) ligand 1 NA NA cell-cell signaling (GO:0007267)|cellular response to interleukin-4 (GO:0071353)|cellular response to transforming growth factor beta stimulus (GO:0071560)|immune response (GO:0006955)|mature natural killer cell chemotaxis (GO:0035782)|negative regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000562)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of T cell cytokine production (GO:0002725)|negative regulation of T-helper 1 cell activation (GO:2000518)|negative regulation of T-helper 1 type immune response (GO:0002826)|negative regulation of transcription, DNA-templated (GO:0045892)|neutrophil chemotaxis (GO:0030593)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000563)|positive regulation of CD8-positive, alpha-beta T cell proliferation (GO:2000566)|positive regulation of granzyme A production (GO:2000513)|positive regulation of granzyme B production (GO:0071663)|positive regulation of immunoglobulin production in mucosal tissue (GO:2000558)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of natural killer cell chemotaxis (GO:2000503)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 cell cytokine production (GO:2000556)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of thymocyte migration (GO:2000412)|positive regulation of transforming growth factor beta production (GO:0071636)|regulation of inflammatory response (GO:0050727)|release of sequestered calcium ion into cytosol (GO:0051209)|response to virus (GO:0009615)|signal transduction (GO:0007165) extracellular region (GO:0005576)|extracellular space (GO:0005615) chemokine activity (GO:0008009)|chemokine receptor binding (GO:0042379)|protein homodimerization activity (GO:0042803) kidney(2)|lung(7)|upper_aerodigestive_tract(1) 10 all_hematologic(923;0.208) TGCTGACCCATGCAATATTTC 0.358 NA T||| 45 0.00898562 0.0 0.0 5008 , , NA 19655 0.0446 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D43768 CCDS1274.1 1q24.2 2014-01-30 2002-08-22 2002-08-23 ENSG00000143184 ENSG00000143184 6375 Endogenous ligands 10645 protein-coding gene gene with protein product 600250 small inducible cytokine subfamily C, member 1 (lymphotactin) LTN, SCYC1 NA 7602097, 7875320 Standard NM_002995 NM_002995 NA Approved LPTN, ATAC, SCM-1a, SCM-1, lymphotactin uc001gfo.2 P47992 OTTHUMG00000034548 ENST00000367818.3:c.*782T>C chr1.hg19:g.168551240T>C NA Q52MA8 hg19 CCDS1274.1 0.02 5.754025 CCAxGCA COVERED NOVEL XCL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000083612.1 0 8.120781 KEEP 0 0 0 27 808 TT 0.999988 0.999988 0 + 7 60 240 0 0 14.251215 188 60 6963 266 ENST00000367818.3 0.035897 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 169455550 169455550 __UNKNOWN__ IGR SNP C C T rs150145979 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:169455550C>T NA NA SLC19A2 (309 upstream) : F5 (27853 downstream) NA NA NA CCCCAACCACCGTTTATCATT 0.552 NA C||| 2 0.000399361 0.0008 0.0 5008 , , NA 18231 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.169455550C>T NA hg19 0.02 7.158913 CACxGTT COVERED NOVEL 0 2 42.734393 KEEP 0 0 0 142 4796 CC 1 1 0 9 60 333 1 0 22.559511 151 60 5220 366 0.05625 1 F5 2153 __UNKNOWN__ __UNKNOWN__ 1 169529826 169529826 __UNKNOWN__ Silent SNP C C A rs6022 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:169529826C>A ENST00000367797.3 - 4 753 c.552G>T c.(550-552)tcG>tcT p.S184S F5_ENST00000546081.1_Silent_p.S47S|F5_ENST00000367796.3_Silent_p.S184S NM_000130.4 NP_000121 P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 184 F5/8 type A 1.|Plastocyanin-like 1. NA blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576) extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982) copper ion binding (GO:0005507) NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) ART-123(DB05777)|Drotrecogin alfa(DB00055) CAATCAGCCCCGAGTTGAAAT 0.468 NA A||| 2092 0.417732 0.6543 0.2911 5008 , , NA 17222 0.6647 NA 0.1819 False NA ,,, NA NA NA 2504 0.1759 NA NA NA NA 0 A 2531,1875 539.3+/-375.2 737,1057,409 125 122 123 552 -1.7 1 1 dbSNP_52 123 1517,7083 748.0+/-407.3 132,1253,2915 no coding-synonymous F5 NM_000130.4 869,2310,3324 AA,AC,CC 17.6395,42.5556,31.1241 184/2225 169529826 4048,8958 2203 4300 6503 SO:0001819 synonymous_variant M14335 CCDS1281.1 1q23 2012-10-02 ENSG00000198734 ENSG00000198734 2153 3542 protein-coding gene gene with protein product 612309 NA Standard NM_000130 NM_000130 NA Approved uc001ggg.1 P12259 OTTHUMG00000034595 ENST00000367797.3:c.552G>T chr1.hg19:g.169529826C>A NA A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6 hg19 CCDS1281.1 0.02 4.901025 CCCxGAG COVERED NOVEL F5-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000083712.1 0 9.63023 KEEP 0 0 0 32 1106 CC 0.999997 0.999991 0 - 7 60 273 0 0 19.298364 104 60 3722 191 ENST00000367797.3 0.063063 0.999994 FMO2 2327 __UNKNOWN__ __UNKNOWN__ 1 171154959 171154959 __UNKNOWN__ Missense_Mutation SNP A A G rs2020870 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:171154959A>G ENST00000209929.7 + 2 265 c.107A>G c.(106-108)gAt>gGt p.D36G FMO2_ENST00000529935.1_Intron|FMO2_ENST00000441535.1_Missense_Mutation_p.D36G P31512 FMO4_HUMAN flavin containing monooxygenase 2 (non-functional) 36 NA drug catabolic process (GO:0042737) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661) endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1) 22 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) AGAACTGAAGATATTGGAGGA 0.453 NA A||| 461 0.0920527 0.0628 0.0447 5008 , , NA 18771 0.1508 NA 0.0586 False NA ,,, NA NA NA 2504 0.1391 NA NA NA NA 0 GRCh37 CM033897 FMO2 M rs2020870 A GLY/ASP 290,4116 160.0+/-192.4 12,266,1925 254 244 248 107 5.7 1 1 dbSNP_98 248 583,8017 156.4+/-210.3 32,519,3749 yes missense FMO2 NM_001460.2 94 44,785,5674 GG,GA,AA 6.7791,6.5819,6.7123 benign 36/472 171154959 873,12133 2203 4300 6503 SO:0001583 missense BC005894 CCDS1293.1 1q24.3 2011-08-04 2006-07-17 ENSG00000094963 ENSG00000094963 2327 3770 protein-coding gene gene with protein product 603955 flavin containing monooxygenase 2 NA 1417778, 9804831 Standard NM_001460 XR_426768 NA Approved uc001ghk.1 Q99518 OTTHUMG00000035504 ENST00000209929.7:c.107A>G chr1.hg19:g.171154959A>G ENSP00000209929:p.Asp36Gly NA Q53XR0 hg19 CCDS1293.1 0.02 8.164476 AAGxTAT COVERED 178 0.0815018315018315 39 0.07926829268292683 16 0.04419889502762431 76 0.13286713286713286 47 0.06200527704485488 A 28.8 4.948795 0.92660 0.065819 0.067791 ENSG00000094963 ENST00000209929;ENST00000441535 T;T 0.64085 -0.08;-0.08 5.66 5.66 0.87406 . 0.000000 0.85682 D 0.000000 T 0.64527 0.2606 M 0.78223 2.4 0.09310 P 0.99999530272 B 0.33212 0.402 P 0.44772 0.46 T 0.71896 -0.4454 9 0.72032 D 0.01 -28.1586 14.8692 0.70444 1.0:0.0:0.0:0.0 rs2020870;rs2266712;rs52821140;rs58458262;rs2020870 36 Q99518 FMO2_HUMAN G 36 ENSP00000209929:D36G;ENSP00000405905:D36G ENSP00000209929:D36G D + 2 0 FMO2 169421583 1.000000 0.71417 0.971000 0.41717 0.938000 0.57974 8.869000 0.92326 2.145000 0.66743 0.533000 0.62120 GAT NOVEL FMO2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000086216.2 0 14.138769 KEEP 0 0 0 47 1410 AA 1 1 0 + 8 60 294 0 0 18.021185 230 60 8344 321 ENST00000209929.7 0.033613 1 PRRC2C 23215 __UNKNOWN__ __UNKNOWN__ 1 171535573 171535573 __UNKNOWN__ Intron SNP T T C rs2038041 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:171535573T>C ENST00000338920.4 + 21 6537 PRRC2C_ENST00000426496.2_Intron|PRRC2C_ENST00000392078.3_Intron|PRRC2C_ENST00000367742.3_Intron NM_015172.3 NP_055987.2 Q9Y520 PRC2C_HUMAN proline-rich coiled-coil 2C NA NA hematopoietic progenitor cell differentiation (GO:0002244) membrane (GO:0016020) poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022) NA AAATATACTTTATAATCCAGA 0.358 NA T||| 652 0.130192 0.0628 0.1081 5008 , , NA 17723 0.2361 NA 0.1332 False NA ,,, NA NA NA 2504 0.1247 NA NA NA NA 0 T 316,4070 14,288,1891 13 14 14 -8 0 1 dbSNP_94 14 1105,7447 72,961,3243 no intron PRRC2C NM_015172.3 86,1249,5134 CC,CT,TT 12.921,7.2047,10.9832 171535573 1421,11517 2193 4276 6469 SO:0001627 intron_variant AL096857 CCDS1296.2 1q24.3 2012-07-18 2010-12-09 2010-12-09 ENSG00000117523 ENSG00000117523 23215 24903 protein-coding gene gene with protein product BAT2 domain containing 1, HLA-B associated transcript 2-like 2 BAT2D1, BAT2L2 NA 10470851, 12443540 Standard NM_015172 NM_015172 NA Approved KIAA1096, XTP2 uc010pmg.2 Q9Y520 OTTHUMG00000034665 ENST00000338920.4:c.6300+13T>C chr1.hg19:g.171535573T>C NA Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6 hg19 CCDS1296.2 0.02 9.538273 CTTxATA COVERED NOVEL PRRC2C-010 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000314826.4 3 12.939515 KEEP 0 0 0 43 1365 TT 1 1 0 + 11 60 421 0 0 28.433226 207 60 7404 302 ENST00000338920.4 0.050459 1 PRRC2C 23215 __UNKNOWN__ __UNKNOWN__ 1 171548617 171548617 __UNKNOWN__ Intron SNP G G A rs3817772 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:171548617G>A ENST00000338920.4 + 27 7503 PRRC2C_ENST00000426496.2_Intron|PRRC2C_ENST00000392078.3_Intron|PRRC2C_ENST00000367742.3_Intron NM_015172.3 NP_055987.2 Q9Y520 PRC2C_HUMAN proline-rich coiled-coil 2C NA NA hematopoietic progenitor cell differentiation (GO:0002244) membrane (GO:0016020) poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022) NA TAATATCAAAGACTTCTTCCA 0.398 NA G||| 1458 0.291134 0.1422 0.3228 5008 , , NA 16970 0.5933 NA 0.3131 False NA ,,, NA NA NA 2504 0.136 NA NA NA NA 0 G 821,3585 323.4+/-298.1 75,671,1457 67 56 60 -1.4 0 1 dbSNP_107 60 2995,5605 457.3+/-364.3 533,1929,1838 no intron PRRC2C NM_015172.3 608,2600,3295 AA,AG,GG 34.8256,18.6337,29.3403 171548617 3816,9190 2203 4300 6503 SO:0001627 intron_variant AL096857 CCDS1296.2 1q24.3 2012-07-18 2010-12-09 2010-12-09 ENSG00000117523 ENSG00000117523 23215 24903 protein-coding gene gene with protein product BAT2 domain containing 1, HLA-B associated transcript 2-like 2 BAT2D1, BAT2L2 NA 10470851, 12443540 Standard NM_015172 NM_015172 NA Approved KIAA1096, XTP2 uc010pmg.2 Q9Y520 OTTHUMG00000034665 ENST00000338920.4:c.7266+12G>A chr1.hg19:g.171548617G>A NA Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6 hg19 CCDS1296.2 0.02 18.673594 AAAxACT COVERED NOVEL PRRC2C-010 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000314826.4 0 16.012232 KEEP 0 2 53 72 2534 GG 1 1 0 + 14 60 511 0 0 30.300738 467 60 17824 672 ENST00000338920.4 0.029106 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 171639719 171639719 __UNKNOWN__ IGR SNP T T C rs112979407 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:171639719T>C NA NA MYOC (17896 upstream) : VAMP4 (29580 downstream) NA NA NA CAAACCACCGTGGACACCTTC 0.537 NA T||| 506 0.101038 0.1127 0.0677 5008 , , NA 17610 0.1131 NA 0.0656 False NA ,,, NA NA NA 2504 0.1329 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.171639719T>C NA hg19 0.02 11.324056 CCGxGGA COVERED NOVEL 0 1 13.540725 KEEP 4 0 0 45 1400 TT 1 1 0 10 60 369 0 0 22.675966 288 60 10437 425 0.033557 1 DNM3 26052 __UNKNOWN__ __UNKNOWN__ 1 172381383 172381383 __UNKNOWN__ 3'UTR SNP T T C rs7528296 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:172381383T>C ENST00000367731.1 + 0 7139 PIGC_ENST00000484368.1_Intron|DNM3_ENST00000358155.4_3'UTR NM_001136127.1 NP_001129599.1 Q9UQ16 DYN3_HUMAN dynamin 3 NA NA endocytosis (GO:0006897)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|synapse assembly (GO:0007416) dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069) GTP binding (GO:0005525)|GTPase activity (GO:0003924) NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 CTTGAATTCCTTAAACTTCGC 0.333 NA T||| 1466 0.292732 0.0189 0.3862 5008 , , NA 18383 0.5109 NA 0.3986 False NA ,,, NA NA NA 2504 0.2628 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL136712 CCDS44276.1, CCDS60356.1 1q24.1 2013-01-10 ENSG00000197959 ENSG00000197959 26052 Pleckstrin homology (PH) domain containing 29125 protein-coding gene gene with protein product Dyna III 611445 NA 10048485 Standard NM_015569 NM_015569 NA Approved KIAA0820 uc001gie.4 Q9UQ16 OTTHUMG00000034913 ENST00000367731.1:c.*4402T>C chr1.hg19:g.172381383T>C NA A9Z1Y1|O14982|O95555|Q1MTM8|Q5W129|Q6P2G1|Q9H0P3|Q9H548|Q9NQ68|Q9NQN6 hg19 CCDS44276.1 0.02 8.861824 TCCxTAA COVERED NOVEL DNM3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000084529.1 0 11.434081 KEEP 0 0 0 38 1198 TT 1 1 0 + 11 60 398 0 0 26.458698 193 60 7127 266 ENST00000367731.1 0.053922 1 PRDX6 9588 __UNKNOWN__ __UNKNOWN__ 1 173457599 173457599 __UNKNOWN__ 3'UTR SNP A A G rs7314 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:173457599A>G ENST00000340385.5 + 0 1404 NM_004905.2 NP_004896.1 P30041 PRDX6_HUMAN peroxiredoxin 6 NA NA hydrogen peroxide catabolic process (GO:0042744)|phospholipid catabolic process (GO:0009395)|response to oxidative stress (GO:0006979) cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|membrane (GO:0016020) antioxidant activity (GO:0016209)|glutathione peroxidase activity (GO:0004602)|peroxiredoxin activity (GO:0051920)|phospholipase A2 activity (GO:0004623) NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1) 12 TTTTAATTCTATACCTTCCTA 0.318 NA G||| 2144 0.428115 0.73 0.2608 5008 , , NA 17479 0.5853 NA 0.2078 False NA ,,, NA NA NA 2504 0.2035 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D14662 CCDS1307.1 1q24.1 2008-02-05 ENSG00000117592 ENSG00000117592 9588 16753 protein-coding gene gene with protein product 602316 NA 11233154 Standard NM_004905 NM_004905 NA Approved AOP2, KIAA0106, 1-Cys, NSGPx, PRX, aiPLA2, MGC46173, p29 uc001giy.1 P30041 OTTHUMG00000034804 ENST00000340385.5:c.*597A>G chr1.hg19:g.173457599A>G NA A8JZY7|P32077|Q5TAH4|Q5ZEZ8 hg19 CCDS1307.1 0.02 7.129344 TCTxTAC COVERED NOVEL PRDX6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000084222.1 0 11.431322 KEEP 0 0 0 38 1116 AA 1 1 0 + 6 60 223 0 0 14.192657 146 60 5279 220 ENST00000340385.5 0.039474 1 ANKRD45 339416 __UNKNOWN__ __UNKNOWN__ 1 173606179 173606179 __UNKNOWN__ Intron SNP A A T rs12065988 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:173606179A>T ENST00000333279.2 - 3 557 RP11-360D2.1_ENST00000417563.1_RNA NM_198493.2 NP_940895.1 Q5TZF3 ANR45_HUMAN ankyrin repeat domain 45 NA NA NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1) 12 ATACTAAATAAATGCATATGC 0.318 NA T||| 1806 0.360623 0.7973 0.268 5008 , , NA 17052 0.2718 NA 0.1879 False NA ,,, NA NA NA 2504 0.1053 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS1309.1 1q25.1 2013-01-10 ENSG00000183831 ENSG00000183831 339416 Ankyrin repeat domain containing 24786 protein-coding gene gene with protein product cancer/testis antigen 117 NA Standard NM_198493 NM_198493 NA Approved FLJ45235, CT117 uc001gja.1 Q5TZF3 OTTHUMG00000040546 ENST00000333279.2:c.496+9805T>A chr1.hg19:g.173606179A>T NA A1A4G2|Q6ZST1 hg19 CCDS1309.1 0.02 1.898201 ATAxATG COVERED NOVEL ANKRD45-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000097580.2 0 2.705442 KEEP 0 0 0 9 240 AA 0.99254 0.992377 0 - 6 60 221 0 0 15.39167 84 60 2958 104 ENST00000333279.2 0.066667 0.999835 RC3H1 149041 __UNKNOWN__ __UNKNOWN__ 1 173911709 173911709 __UNKNOWN__ Intron SNP A A G rs12085939 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:173911709A>G ENST00000367696.2 - 18 3487 RC3H1_ENST00000367694.2_Intron|RC3H1_ENST00000258349.4_Intron Q5TC82 RC3H1_HUMAN ring finger and CCCH-type domains 1 NA NA B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470) cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494) mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 50 ggtggctcacacctgtaatcc 0.458 NA G||| 1671 0.333666 0.8086 0.1556 5008 , , NA 13444 0.2024 NA 0.1163 False NA ,,, NA NA NA 2504 0.1769 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK093501 CCDS30940.1, CCDS72987.1 1q25.1 2013-01-18 2010-09-15 ENSG00000135870 ENSG00000135870 149041 RING-type (C3HC4) zinc fingers, Zinc fingers, CCCH-type domain containing 29434 protein-coding gene gene with protein product KIAA2025 protein 609424 ring finger and CCCH-type zinc finger domains 1 NA 15917799 Standard NM_172071 XM_005244918 NA Approved KIAA2025, roquin, RP5-1198E17.5, RNF198 uc001gju.4 Q5TC82 OTTHUMG00000037275 ENST00000367696.2:c.3135+870T>C chr1.hg19:g.173911709A>G NA B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1 hg19 CCDS30940.1 0.02 -0.05263 CACxCCT UNCOVERED NOVEL RC3H1-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000090733.2 1 2.407154 KEEP 4 0 0 8 244 AA 0 0 0 - 3 60 102 0 0 9.824318 3 60 108 17 ENST00000367696.2 0.5 0.036766 RC3H1 149041 __UNKNOWN__ __UNKNOWN__ 1 173947571 173947571 __UNKNOWN__ Intron SNP T T C rs78576697 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:173947571T>C ENST00000367696.2 - 7 1454 RC3H1_ENST00000367694.2_Intron|RC3H1_ENST00000258349.4_Intron Q5TC82 RC3H1_HUMAN ring finger and CCCH-type domains 1 NA NA B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470) cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494) mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 50 TAAAGAATCATTGAGCAGCAC 0.368 NA T||| 630 0.125799 0.0522 0.0533 5008 , , NA 15912 0.3224 NA 0.0855 False NA ,,, NA NA NA 2504 0.1155 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK093501 CCDS30940.1, CCDS72987.1 1q25.1 2013-01-18 2010-09-15 ENSG00000135870 ENSG00000135870 149041 RING-type (C3HC4) zinc fingers, Zinc fingers, CCCH-type domain containing 29434 protein-coding gene gene with protein product KIAA2025 protein 609424 ring finger and CCCH-type zinc finger domains 1 NA 15917799 Standard NM_172071 XM_005244918 NA Approved KIAA2025, roquin, RP5-1198E17.5, RNF198 uc001gju.4 Q5TC82 OTTHUMG00000037275 ENST00000367696.2:c.1102+54A>G chr1.hg19:g.173947571T>C NA B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1 hg19 CCDS30940.1 0.02 13.848264 TCAxTGA COVERED NOVEL RC3H1-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000090733.2 1 16.849709 KEEP 0 0 0 56 1749 TT 1 1 0 - 12 60 457 0 0 29.078178 316 60 11727 474 ENST00000367696.2 0.036585 1 RABGAP1L 9910 __UNKNOWN__ __UNKNOWN__ 1 174959108 174959108 __UNKNOWN__ Silent SNP G G A rs41266060 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:174959108G>A ENST00000489615.1 + 9 1484 c.1083G>A c.(1081-1083)ccG>ccA p.P361P RABGAP1L_ENST00000367686.3_3'UTR|RABGAP1L_ENST00000367687.1_Silent_p.P368P|RABGAP1L_ENST00000367688.3_Silent_p.P244P|RABGAP1L_ENST00000392064.2_Silent_p.P299P|RABGAP1L_ENST00000325589.5_Silent_p.P349P|RABGAP1L_ENST00000347255.2_Silent_p.P369P NM_001243765.1 NP_001230694.1 B7ZAP0 RBG10_HUMAN RAB GTPase activating protein 1-like 244 NA NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2) 45 AGCCAGCACCGGTCACCCAGC 0.507 NA G||| 695 0.138778 0.0575 0.0922 5008 , , NA 16684 0.3254 NA 0.1153 False NA ,,, NA NA NA 2504 0.1135 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001819 synonymous_variant AF279778 CCDS1314.1, CCDS41437.1, CCDS55662.1, CCDS58046.1 1q24 2011-11-21 ENSG00000152061 ENSG00000152061 9910 24663 protein-coding gene gene with protein product 609238 NA 10585558 Standard NM_001243765 NM_014857 NA Approved HHL, TBC1D18, KIAA0471, FLJ38519 uc001gjx.3 B7ZAP0 OTTHUMG00000034899 ENST00000489615.1:c.1083G>A chr1.hg19:g.174959108G>A NA B7ZAA4 hg19 CCDS58046.1 0.02 19.424445 ACCxGTC COVERED NOVEL RABGAP1L-006 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000084502.3 4 65.743226 KEEP 0 1 30 229 7832 GG 1 1 0 + 16 60 596 0 0 37.041803 447 70 15196 873 ENST00000489615.1 0.034557 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 175013631 175013631 __UNKNOWN__ IGR SNP C C G rs146472784 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:175013631C>G NA NA MRPS14 (21070 upstream) : TNN (23362 downstream) NA NA NA GGTCACGACACTGGACCCTTG 0.512 NA C||| 8 0.00159744 0.0 0.0 5008 , , NA 18807 0.0079 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.175013631C>G NA hg19 0.02 12.147529 ACAxTGG COVERED NOVEL 0 1 9.631595 KEEP 0 0 0 32 1159 CC 0.999997 0.999997 0 10 60 387 0 0 25.052225 251 60 9515 364 0.038314 1 TNR 7143 __UNKNOWN__ __UNKNOWN__ 1 175375469 175375469 __UNKNOWN__ Missense_Mutation SNP C C A rs2239819 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:175375469C>A ENST00000367674.2 - 3 1090 c.382G>T c.(382-384)Gcc>Tcc p.A128S TNR_ENST00000263525.2_Missense_Mutation_p.A128S Q92752 TENR_HUMAN tenascin R 128 NA A -> S (in dbSNP:rs2239819). associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029) cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578) NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) GCTGAACTGGCACATGGACAG 0.592 NA C||| 1438 0.287141 0.0885 0.3617 5008 , , NA 21685 0.5179 NA 0.2525 False NA ,,, NA NA NA 2504 0.3006 NA NA NA NA 0 C SER/ALA 582,3824 255.8+/-260.9 47,488,1668 167 144 152 382 2 0 1 dbSNP_98 152 2331,6269 391.0+/-343.5 324,1683,2293 yes missense TNR NM_003285.2 99 371,2171,3961 AA,AC,CC 27.1047,13.2093,22.3974 benign 128/1359 175375469 2913,10093 2203 4300 6503 SO:0001583 missense X98085 CCDS1318.1 1q24 2013-02-11 2012-07-12 ENSG00000116147 ENSG00000116147 7143 Fibrinogen C domain containing, Fibronectin type III domain containing 11953 protein-coding gene gene with protein product restrictin, janusin 601995 NA 8626505, 8940128 Standard NM_003285 NM_003285 NA Approved uc009wwu.1 Q92752 OTTHUMG00000034876 ENST00000367674.2:c.382G>T chr1.hg19:g.175375469C>A ENSP00000356646:p.Ala128Ser NA C9J563|Q15568|Q5R3G0 hg19 CCDS1318.1 0.02 13.450087 TGGxACA COVERED 655|655 0.2999084249084249|0.2999084249084249 47|47 0.09552845528455285|0.09552845528455285 119|119 0.3287292817679558|0.3287292817679558 302|302 0.527972027972028|0.527972027972028 187|187 0.24670184696569922|0.24670184696569922 C|C 2.025|2.025 -0.423785|-0.423785 0.04734|0.04734 0.132093|0.132093 0.271047|0.271047 ENSG00000116147|ENSG00000116147 ENST00000367674;ENST00000263525;ENST00000367673|ENST00000422274 T;T|T 0.34859|0.17691 1.34;1.34|2.26 5.24|5.24 2.0|2.0 0.26442|0.26442 .|. 0.180815|. 0.49916|. N|. 0.000132|. T|T 0.00012|0.00012 0.0000|0.0000 N|N 0.19112|0.19112 0.55|0.55 0.80722|0.80722 P|P 0.0|0.0 B;B|. 0.14438|. 0.01;0.001|. B;B|. 0.12156|. 0.007;0.004|. T|T 0.41161|0.41161 -0.9524|-0.9524 9|6 0.25751|0.51188 T|T 0.34|0.08 .|. 8.009|8.009 0.30342|0.30342 0.4168:0.4977:0.0:0.0854|0.4168:0.4977:0.0:0.0854 rs2239819;rs52814246;rs57824138;rs2239819|rs2239819;rs52814246;rs57824138;rs2239819 128;128|. B4DIX8;Q92752|. .;TENR_HUMAN|. S|F 128|11 ENSP00000356646:A128S;ENSP00000263525:A128S|ENSP00000403413:C11F ENSP00000263525:A128S|ENSP00000403413:C11F A|C -|- 1|2 0|0 TNR|TNR 173642092|173642092 1.000000|1.000000 0.71417|0.71417 0.010000|0.010000 0.14722|0.14722 0.561000|0.561000 0.35649|0.35649 3.195000|3.195000 0.51013|0.51013 0.577000|0.577000 0.29470|0.29470 0.561000|0.561000 0.74099|0.74099 GCC|TGC NOVEL TNR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000084414.4 3 9.666056 KEEP 0 1 28 42 1527 CC 1 1 0 - 17 60 629 0 0 42.005987 310 60 11647 448 ENST00000367674.2 0.051988 1 PAPPA2 60676 __UNKNOWN__ __UNKNOWN__ 1 176660247 176660247 __UNKNOWN__ Intron SNP C C T rs726252 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:176660247C>T ENST00000367662.3 + 5 3595 PAPPA2_ENST00000367661.3_3'UTR NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 NA NA bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558) extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020) metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270) NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 CTGTCTCTCACGCCTTCCTTG 0.358 NA c||| 2828 0.564696 0.3805 0.6628 5008 , , NA 17170 0.8958 NA 0.5557 False NA ,,, NA NA NA 2504 0.4121 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BG354569 CCDS41438.1, CCDS41439.1 1q23-q25 2008-05-23 2004-07-07 2004-07-09 ENSG00000116183 ENSG00000116183 60676 14615 protein-coding gene gene with protein product placenta-specific 3 PLAC3 NA 11018262, 11264294 Standard NM_021936 NA Approved PAPPE, PAPP-A2 uc001gkz.3 Q9BXP8 OTTHUMG00000035025 ENST00000367662.3:c.2431+681C>T chr1.hg19:g.176660247C>T NA A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9 hg19 CCDS41438.1 0.02 7.23783 TCAxGCC COVERED NOVEL PAPPA2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000084763.1 1 3.847159 KEEP 0 1 32 24 815 CC 0.999931 0.999931 0 + 6 60 232 0 0 15.107651 145 60 5070 217 ENST00000367662.3 0.039735 1 ASTN1 460 __UNKNOWN__ __UNKNOWN__ 1 176927367 176927367 __UNKNOWN__ Intron SNP C C A rs140252442 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:176927367C>A ENST00000367657.3 - 10 1927 ASTN1_ENST00000361833.2_Intron|ASTN1_ENST00000281881.3_Intron|ASTN1_ENST00000367654.3_Intron|ASTN1_ENST00000424564.2_Intron O14525 ASTN1_HUMAN astrotactin 1 NA NA locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764) endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021) NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 GGCTGCCTGCCAATTTTTCCT 0.478 NA C||| 29 0.00579073 0.0 0.0 5008 , , NA 20039 0.0258 NA 0.0 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB006627 CCDS1319.1, CCDS44280.1, CCDS65732.1 1q25.2 2008-02-05 2006-08-24 2006-08-24 ENSG00000152092 ENSG00000152092 460 773 protein-coding gene gene with protein product 600904 astrotactin ASTN NA 9070947 Standard NM_004319 NM_001286164 NA Approved uc001glc.3 O14525 OTTHUMG00000035041 ENST00000367657.3:c.1736+113G>T chr1.hg19:g.176927367C>A NA A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8 hg19 0.02 1.795205 TGCxAAT COVERED NOVEL ASTN1-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000084823.1 1 3.611606 KEEP 0 0 0 12 413 CC 0.993634 0.992749 0 - 4 60 135 0 0 8.540345 75 60 2698 95 ENST00000367657.3 0.050633 0.99911 BRINP2 57795 __UNKNOWN__ __UNKNOWN__ 1 177247854 177247854 __UNKNOWN__ Missense_Mutation SNP C C G rs3176443 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:177247854C>G ENST00000361539.4 + 7 1480 c.1168C>G c.(1168-1170)Cta>Gta p.L390V BRINP2_ENST00000478325.1_3'UTR NM_021165.2 NP_066988.1 Q9C0B6 BRNP2_HUMAN bone morphogenetic protein/retinoic acid inducible neural-specific 2 390 NA L -> V (in dbSNP:rs3176443). cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666) extracellular region (GO:0005576) NA CCATCGGATCCTACGCCGGCT 0.612 NA G||| 1325 0.264577 0.4017 0.2061 5008 , , NA 15428 0.2113 NA 0.2187 False NA ,,, NA NA NA 2504 0.2229 NA NA NA NA 0 G VAL/LEU 1680,2726 654.9+/-399.8 289,1102,812 84 88 87 1168 3.2 0.6 1 dbSNP_105 87 1779,6821 734.2+/-406.9 199,1381,2720 yes missense FAM5B NM_021165.2 32 488,2483,3532 GG,GC,CC 20.686,38.1298,26.5954 benign 390/784 177247854 3459,9547 2203 4300 6503 SO:0001583 missense CCDS1320.1 1q24 2013-08-06 2013-08-06 2013-07-31 ENSG00000198797 ENSG00000198797 57795 13746 protein-coding gene gene with protein product family with sequence similarity 5, member B FAM5B NA 15193423 Standard NM_021165 NM_021165 NA Approved DBCCR1L2 uc001glf.3 Q9C0B6 OTTHUMG00000034953 ENST00000361539.4:c.1168C>G chr1.hg19:g.177247854C>G ENSP00000354481:p.Leu390Val NA O95560|Q6ZWC1|Q7LCZ9|Q8N360 hg19 CCDS1320.1 0.02 9.287559 ATCxTAC COVERED 576 0.26373626373626374 217 0.4410569105691057 72 0.19889502762430938 123 0.21503496503496503 164 0.21635883905013192 G 0.863 -0.734660 0.03111 0.381298 0.20686 ENSG00000198797 ENST00000536589;ENST00000361539 T 0.11821 2.74 5.39 3.17 0.36434 . 0.246637 0.40064 N 0.001185 T 0.00012 0.0000 N 0.00368 -1.59 0.80722 P 0.0 B;B;B 0.02656 0.0;0.0;0.0 B;B;B 0.04013 0.0;0.001;0.0 T 0.47573 -0.9107 9 0.02654 T 1 -19.594 8.7092 0.34374 0.1994:0.1281:0.6726:0.0 rs3176443;rs3736682;rs56601222;rs3176443 140;285;390 F5H8E0;Q9C0B6-2;Q9C0B6 .;.;FAM5B_HUMAN V 140;390 ENSP00000354481:L390V ENSP00000354481:L390V L + 1 2 FAM5B 175514477 0.934000 0.31675 0.602000 0.28890 0.977000 0.68977 1.390000 0.34464 0.670000 0.31165 -0.120000 0.15030 CTA NOVEL BRINP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000084599.1 1 11.738279 KEEP 0 0 0 39 1403 CC 1 1 0 + 15 60 559 0 0 39.891537 186 60 6895 292 ENST00000361539.4 0.074627 1 RASAL2-AS1 100302401 __UNKNOWN__ __UNKNOWN__ 1 178062359 178062359 __UNKNOWN__ lincRNA SNP G G A rs964993 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:178062359G>A ENST00000421505.1 - 0 612 NR_027982.1 RASAL2 antisense RNA 1 NA NA NA AGGCCCGTCCGTCCATCCACA 0.493 NA A||| 1117 0.223043 0.4107 0.2435 5008 , , NA 18029 0.1032 NA 0.1889 False NA ,,, NA NA NA 2504 0.1135 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA BC027927 1q25.2 2012-10-12 2012-08-15 ENSG00000224687 ENSG00000224687 100302401 Long non-coding RNAs 44170 non-coding RNA RNA, long non-coding RASAL2 antisense RNA 1 (non-protein coding) NA Standard NR_027982 NR_027982 NA Approved uc001gln.1 OTTHUMG00000040865 ENST00000421505.1: chr1.hg19:g.178062359G>A NA hg19 0.02 15.349519 TCCxTCC COVERED NOVEL RASAL2-AS1-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000098177.1 3 50.546719 KEEP 0 0 0 168 5845 GG 1 1 0 - 18 60 661 0 0 42.923111 377 60 13652 738 ENST00000421505.1 0.04557 1 RASAL2 9462 __UNKNOWN__ __UNKNOWN__ 1 178442190 178442190 __UNKNOWN__ Intron SNP C C T rs10913557 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:178442190C>T ENST00000367649.3 + 18 4030 RASAL2_ENST00000448150.3_Intron|RASAL2_ENST00000462775.1_Intron Q9UJF2 NGAP_HUMAN RAS protein activator like 2 NA NA negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235) Ras GTPase activator activity (GO:0005099) biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 CTGAATAAAGCCATGATTGGT 0.493 NA C||| 471 0.0940495 0.118 0.1326 5008 , , NA 22006 0.0754 NA 0.0984 False NA ,,, NA NA NA 2504 0.0491 NA NA NA NA 0 C , 540,3866 243.4+/-253.1 37,466,1700 103 94 97 , 4.9 1 1 dbSNP_120 97 856,7744 196.3+/-241.3 48,760,3492 no intron,intron RASAL2 NM_004841.3,NM_170692.2 , 85,1226,5192 TT,TC,CC 9.9535,12.256,10.7335 , , 178442190 1396,11610 2203 4300 6503 SO:0001627 intron_variant AF047711 CCDS1321.1, CCDS1322.1, CCDS1321.2 1q25 2013-01-10 ENSG00000075391 ENSG00000075391 9462 Pleckstrin homology (PH) domain containing 9874 protein-coding gene gene with protein product Ras GTPase activating protein-like, Ras protein activator like 1 606136 NA 9877179 Standard NM_170692 NM_004841 NA Approved nGAP uc001glq.3 Q9UJF2 OTTHUMG00000035022 ENST00000367649.3:c.3679-20C>T chr1.hg19:g.178442190C>T NA F8W755|O95174|Q2TB22|Q5TFU9 hg19 CCDS1321.2 0.02 12.521558 AAGxCAT COVERED NOVEL RASAL2-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000352415.1 2 16.85526 KEEP 0 0 0 56 2013 CC 1 1 0 + 10 60 361 0 0 21.558206 310 60 11595 457 ENST00000367649.3 0.03125 1 RASAL2 9462 __UNKNOWN__ __UNKNOWN__ 1 178442906 178442906 __UNKNOWN__ 3'UTR SNP T T A rs2862379 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:178442906T>A ENST00000462775.1 + 0 4077 RASAL2_ENST00000448150.3_3'UTR NM_004841.3 NP_004832.1 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 NA NA negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235) Ras GTPase activator activity (GO:0005099) biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 TCAGAAAACATGCAAATACCA 0.398 NA T||| 455 0.0908546 0.1067 0.1311 5008 , , NA 17939 0.0754 NA 0.0984 False NA ,,, NA NA NA 2504 0.0491 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF047711 CCDS1321.1, CCDS1322.1, CCDS1321.2 1q25 2013-01-10 ENSG00000075391 ENSG00000075391 9462 Pleckstrin homology (PH) domain containing 9874 protein-coding gene gene with protein product Ras GTPase activating protein-like, Ras protein activator like 1 606136 NA 9877179 Standard NM_170692 NM_004841 NA Approved nGAP uc001glq.3 Q9UJF2 OTTHUMG00000035022 ENST00000462775.1:c.*532T>A chr1.hg19:g.178442906T>A NA F8W755|O95174|Q2TB22|Q5TFU9 hg19 CCDS1322.1 0.02 4.399589 ACAxGCA COVERED NOVEL RASAL2-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000084758.3 0 8.124454 KEEP 0 0 0 27 856 TT 0.999988 0.999988 0 + 6 60 229 0 0 15.125314 128 60 4717 187 ENST00000462775.1 0.044776 1 RASAL2 9462 __UNKNOWN__ __UNKNOWN__ 1 178444907 178444907 __UNKNOWN__ 3'UTR SNP G G A rs12038910 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:178444907G>A ENST00000462775.1 + 0 6078 RASAL2_ENST00000448150.3_3'UTR NM_004841.3 NP_004832.1 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 NA NA negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235) Ras GTPase activator activity (GO:0005099) biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 GACAGATTATGCAGCCTTCTA 0.348 NA G||| 460 0.091853 0.1104 0.1311 5008 , , NA 17704 0.0754 NA 0.0984 False NA ,,, NA NA NA 2504 0.0491 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF047711 CCDS1321.1, CCDS1322.1, CCDS1321.2 1q25 2013-01-10 ENSG00000075391 ENSG00000075391 9462 Pleckstrin homology (PH) domain containing 9874 protein-coding gene gene with protein product Ras GTPase activating protein-like, Ras protein activator like 1 606136 NA 9877179 Standard NM_170692 NM_004841 NA Approved nGAP uc001glq.3 Q9UJF2 OTTHUMG00000035022 ENST00000462775.1:c.*2533G>A chr1.hg19:g.178444907G>A NA F8W755|O95174|Q2TB22|Q5TFU9 hg19 CCDS1322.1 0.02 1.924478 TATxCAG COVERED NOVEL RASAL2-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000084758.3 1 2.407842 KEEP 0 0 0 8 278 GG 0.99257 0.992298 0 + 6 60 212 0 0 14.615185 80 60 3074 109 ENST00000462775.1 0.069767 0.999726 FAM20B 9917 __UNKNOWN__ __UNKNOWN__ 1 179012947 179012947 __UNKNOWN__ 5'UTR SNP C C G rs72707294 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:179012947C>G ENST00000263733.4 + 0 301 NM_014864.3 NP_055679.1 O75063 XYLK_HUMAN family with sequence similarity 20, member B NA NA Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773) breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3) 14 AATACATGAGCAAGAGTGGGT 0.443 NA C||| 689 0.13758 0.0575 0.0764 5008 , , NA 20333 0.3036 NA 0.17 False NA ,,, NA NA NA 2504 0.0849 NA NA NA NA 0 C 367,4039 186.0+/-213.0 14,339,1850 68 56 60 2.2 0 1 dbSNP_130 60 1361,7239 263.7+/-285.1 110,1141,3049 no utr-5 FAM20B NM_014864.3 124,1480,4899 GG,GC,CC 15.8256,8.3296,13.2862 179012947 1728,11278 2203 4300 6503 SO:0001623 5_prime_UTR_variant AB007944 CCDS1328.1 1q25.2 2013-04-29 ENSG00000116199 ENSG00000116199 9917 23017 protein-coding gene gene with protein product glycosaminoglycan xylosylkinase 611063 NA 9455484, 19473117 Standard NM_014864 NM_014864 NA Approved KIAA0475, GXK1 uc001gmc.3 O75063 OTTHUMG00000035073 ENST00000263733.4:c.-36C>G chr1.hg19:g.179012947C>G NA Q5W0C3|Q5W0C4 hg19 CCDS1328.1 0.02 8.618973 GAGxAAG COVERED NOVEL FAM20B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000084922.1 0 6.320495 KEEP 0 0 0 21 750 CC 0.999869 0.999869 0 + 8 60 289 0 0 17.982381 201 60 7624 262 ENST00000263733.4 0.038278 1 ABL2 27 __UNKNOWN__ __UNKNOWN__ 1 179112110 179112110 __UNKNOWN__ Intron SNP G G T rs202125612 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:179112110G>T ENST00000502732.1 - 2 361 ABL2_ENST00000507173.1_Intron|ABL2_ENST00000512653.1_Missense_Mutation_p.L24M|ABL2_ENST00000408940.3_Missense_Mutation_p.L24M|ABL2_ENST00000511413.1_Intron|ABL2_ENST00000392043.3_Intron|ABL2_ENST00000367623.4_Intron|ABL2_ENST00000504405.1_Missense_Mutation_p.L24M|ABL2_ENST00000344730.3_Missense_Mutation_p.L24M NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3 NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1 P42684 ABL2_HUMAN ABL proto-oncogene 2, non-receptor tyrosine kinase NA NA actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165) actin cytoskeleton (GO:0015629)|cytosol (GO:0005829) actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713) breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 65 Adenosine triphosphate(DB00171)|Dasatinib(DB01254) TCAGTGCACAGGCAGCAAAGT 0.463 NA T ETV6 AML G||| 55 0.0109824 0.0 0.0 5008 , , NA 18406 0.0 NA 0.0 False NA ,,, NA NA NA 2504 0.0562 NA NA NA Dom yes 1 1q24-q25 27 v-abl Abelson murine leukemia viral oncogene homolog 2 L 0 114 111 112 NA NA 1 NA 179112110 1963 4145 6108 SO:0001627 intron_variant M14904 CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1 1q25.2 2014-06-26 2014-06-26 ENSG00000143322 ENSG00000143322 27 SH2 domain containing 77 protein-coding gene gene with protein product Abelson-related gene 164690 v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene), v-abl Abelson murine leukemia viral oncogene homolog 2, c-abl oncogene 2, non-receptor tyrosine kinase ABLL NA 3787260 Standard NM_005158 NM_001136001 NA Approved ARG uc001gmi.4 P42684 OTTHUMG00000035199 ENST00000502732.1:c.158-9601C>A chr1.hg19:g.179112110G>T NA A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301 hg19 CCDS30947.1 0.02 17.459287 ACAxGCA COVERED . . . . . . . . . . G 10.36 1.328054 0.24080 . . ENSG00000143322 ENST00000408940;ENST00000344730;ENST00000512653;ENST00000504405 T;T;T;T 0.75589 -0.9;-0.94;-0.94;-0.95 5.34 4.41 0.53225 . . . . . T 0.79323 0.4426 . . . 0.22185 N 0.999306 B;P;D;B;B;B 0.64830 0.005;0.763;0.994;0.001;0.003;0.001 B;B;P;B;B;B 0.53649 0.009;0.347;0.731;0.004;0.004;0.004 T 0.70241 -0.4926 8 0.54805 T 0.06 . 12.3196 0.54977 0.0:0.0:0.8304:0.1696 . 24;24;24;24;24;24 P42684-4;P42684-9;P42684-2;P42684-3;D1MPS6;P42684-10 .;.;.;.;.;. M 24 ENSP00000386152:L24M;ENSP00000339209:L24M;ENSP00000423578:L24M;ENSP00000426831:L24M ENSP00000339209:L24M L - 1 2 ABL2 177378733 0.208000 0.23494 0.741000 0.31004 0.124000 0.20399 0.219000 0.17641 1.211000 0.43351 0.655000 0.94253 CTG NOVEL ABL2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000085174.3 0 34.312009 KEEP 0 0 0 114 4066 GG 1 1 0 - 14 60 514 0 0 31.676659 390 60 14776 624 ENST00000502732.1 0.034653 1 SOAT1 6646 __UNKNOWN__ __UNKNOWN__ 1 179310262 179310262 __UNKNOWN__ Silent SNP C C T rs11576517 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:179310262C>T ENST00000367619.3 + 7 740 c.597C>T c.(595-597)ccC>ccT p.P199P SOAT1_ENST00000535686.1_5'UTR|SOAT1_ENST00000539888.1_Silent_p.P134P|SOAT1_ENST00000540564.1_Silent_p.P141P NM_003101.5 NP_003092.4 P35610 SOAT1_HUMAN sterol O-acyltransferase 1 199 NA cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol storage (GO:0010878)|macrophage derived foam cell differentiation (GO:0010742)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|very-low-density lipoprotein particle assembly (GO:0034379) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020) cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|sterol O-acyltransferase activity (GO:0004772) p.P199P(1) central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1) 20 Ezetimibe(DB00973)|Hesperetin(DB01094) TTTCAGTTCCCTATTTTCTGT 0.453 NA C||| 1414 0.282348 0.1354 0.2406 5008 , , NA 16077 0.4782 NA 0.2406 False NA ,,, NA NA NA 2504 0.3517 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) C 596,3810 259.5+/-263.1 39,518,1646 204 187 193 597 -1.8 1 1 dbSNP_120 193 1822,6778 325.9+/-317.1 177,1468,2655 no coding-synonymous SOAT1 NM_003101.4 216,1986,4301 TT,TC,CC 21.186,13.527,18.5914 199/551 179310262 2418,10588 2203 4300 6503 SO:0001819 synonymous_variant L21934 CCDS1330.1, CCDS58047.1, CCDS58048.1 1q25 2008-08-26 2008-08-26 ENSG00000057252 ENSG00000057252 6646 2.3.1.26 11177 protein-coding gene gene with protein product acyl-Coenzyme A: cholesterol acyltransferase 102642 sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1 SOAT, STAT NA 8407899 Standard NM_003101 NM_003101 NA Approved ACAT uc001gml.3 P35610 OTTHUMG00000035253 ENST00000367619.3:c.597C>T chr1.hg19:g.179310262C>T NA A6NC40|A8K3P4|A9Z1V7|B4DU95|Q5T0X4|Q8N1E4 hg19 CCDS1330.1 0.02 17.993577 TCCxTAT COVERED NOVEL SOAT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000085286.2 6 21.369742 KEEP 0 0 0 71 2554 CC 1 1 0 + 21 60 774 0 0 51.679677 379 60 14120 567 ENST00000367619.3 0.0525 1 SOAT1 6646 __UNKNOWN__ __UNKNOWN__ 1 179316687 179316687 __UNKNOWN__ Intron SNP A A G rs13306729 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:179316687A>G ENST00000367619.3 + 12 1260 SOAT1_ENST00000535686.1_Intron|SOAT1_ENST00000539888.1_Intron|SOAT1_ENST00000540564.1_Intron NM_003101.5 NP_003092.4 P35610 SOAT1_HUMAN sterol O-acyltransferase 1 NA NA cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol storage (GO:0010878)|macrophage derived foam cell differentiation (GO:0010742)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|very-low-density lipoprotein particle assembly (GO:0034379) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020) cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|sterol O-acyltransferase activity (GO:0004772) central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1) 20 Ezetimibe(DB00973)|Hesperetin(DB01094) GTTGCTTGGTATGTGAGCTAT 0.303 NA A||| 485 0.096845 0.152 0.0634 5008 , , NA 16685 0.1042 NA 0.1103 False NA ,,, NA NA NA 2504 0.0245 NA NA NA NA 0 A 640,3764 272.8+/-271.0 55,530,1617 149 132 138 -0.5 0 1 dbSNP_121 138 981,7617 211.3+/-251.9 59,863,3377 no intron SOAT1 NM_003101.4 114,1393,4994 GG,GA,AA 11.4096,14.5322,12.4673 179316687 1621,11381 2202 4299 6501 SO:0001627 intron_variant L21934 CCDS1330.1, CCDS58047.1, CCDS58048.1 1q25 2008-08-26 2008-08-26 ENSG00000057252 ENSG00000057252 6646 2.3.1.26 11177 protein-coding gene gene with protein product acyl-Coenzyme A: cholesterol acyltransferase 102642 sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1 SOAT, STAT NA 8407899 Standard NM_003101 NM_003101 NA Approved ACAT uc001gml.3 P35610 OTTHUMG00000035253 ENST00000367619.3:c.1118-48A>G chr1.hg19:g.179316687A>G NA A6NC40|A8K3P4|A9Z1V7|B4DU95|Q5T0X4|Q8N1E4 hg19 CCDS1330.1 0.02 6.681383 GGTxTGT COVERED NOVEL SOAT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000085286.2 0 11.131583 KEEP 0 0 0 37 1139 AA 1 1 0 + 8 60 294 0 0 18.787151 184 60 6335 263 ENST00000367619.3 0.041667 1 SOAT1 6646 __UNKNOWN__ __UNKNOWN__ 1 179323919 179323919 __UNKNOWN__ 3'UTR SNP A A G rs4652366 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:179323919A>G ENST00000367619.3 + 0 2939 NM_003101.5 NP_003092.4 P35610 SOAT1_HUMAN sterol O-acyltransferase 1 NA NA cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol storage (GO:0010878)|macrophage derived foam cell differentiation (GO:0010742)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|very-low-density lipoprotein particle assembly (GO:0034379) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020) cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|sterol O-acyltransferase activity (GO:0004772) central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1) 20 Ezetimibe(DB00973)|Hesperetin(DB01094) TAAGATGCCCATTTCTAATAC 0.308 NA A||| 2756 0.550319 0.6573 0.4885 5008 , , NA 18343 0.4851 NA 0.5984 False NA ,,, NA NA NA 2504 0.4673 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L21934 CCDS1330.1, CCDS58047.1, CCDS58048.1 1q25 2008-08-26 2008-08-26 ENSG00000057252 ENSG00000057252 6646 2.3.1.26 11177 protein-coding gene gene with protein product acyl-Coenzyme A: cholesterol acyltransferase 102642 sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1 SOAT, STAT NA 8407899 Standard NM_003101 NM_003101 NA Approved ACAT uc001gml.3 P35610 OTTHUMG00000035253 ENST00000367619.3:c.*1143A>G chr1.hg19:g.179323919A>G NA A6NC40|A8K3P4|A9Z1V7|B4DU95|Q5T0X4|Q8N1E4 hg19 CCDS1330.1 0.02 8.179909 CCCxTTT COVERED NOVEL SOAT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000085286.2 2 2.208284 KEEP 0 3 93 40 1243 AA 1 1 0 + 11 60 376 0 0 23.786583 214 60 7846 303 ENST00000367619.3 0.048889 1 SOAT1 6646 __UNKNOWN__ __UNKNOWN__ 1 179325506 179325506 __UNKNOWN__ 3'UTR SNP A A G rs2184575 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:179325506A>G ENST00000367619.3 + 0 4526 NM_003101.5 NP_003092.4 P35610 SOAT1_HUMAN sterol O-acyltransferase 1 NA NA cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol storage (GO:0010878)|macrophage derived foam cell differentiation (GO:0010742)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|very-low-density lipoprotein particle assembly (GO:0034379) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020) cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|sterol O-acyltransferase activity (GO:0004772) central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1) 20 Ezetimibe(DB00973)|Hesperetin(DB01094) GCAAAATGGAATTTTGTTTTG 0.318 NA A||| 2277 0.454673 0.3835 0.428 5008 , , NA 17345 0.4851 NA 0.5437 False NA ,,, NA NA NA 2504 0.4468 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L21934 CCDS1330.1, CCDS58047.1, CCDS58048.1 1q25 2008-08-26 2008-08-26 ENSG00000057252 ENSG00000057252 6646 2.3.1.26 11177 protein-coding gene gene with protein product acyl-Coenzyme A: cholesterol acyltransferase 102642 sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1 SOAT, STAT NA 8407899 Standard NM_003101 NM_003101 NA Approved ACAT uc001gml.3 P35610 OTTHUMG00000035253 ENST00000367619.3:c.*2730A>G chr1.hg19:g.179325506A>G NA A6NC40|A8K3P4|A9Z1V7|B4DU95|Q5T0X4|Q8N1E4 hg19 CCDS1330.1 0.02 4.878067 GGAxTTT COVERED NOVEL SOAT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000085286.2 1 7.056412 KEEP 0 1 36 36 1138 AA 1 0.999999 0 + 5 60 195 0 0 12.771406 120 60 4437 209 ENST00000367619.3 0.04 0.999999 SOAT1 6646 __UNKNOWN__ __UNKNOWN__ 1 179327017 179327017 __UNKNOWN__ 3'UTR SNP A A G rs45471092 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:179327017A>G ENST00000367619.3 + 0 6037 NM_003101.5 NP_003092.4 P35610 SOAT1_HUMAN sterol O-acyltransferase 1 NA NA cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol storage (GO:0010878)|macrophage derived foam cell differentiation (GO:0010742)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|very-low-density lipoprotein particle assembly (GO:0034379) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020) cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|sterol O-acyltransferase activity (GO:0004772) central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1) 20 Ezetimibe(DB00973)|Hesperetin(DB01094) CAAAACATTTATGTCCCAGTT 0.463 NA A||| 2277 0.454673 0.3835 0.428 5008 , , NA 16416 0.4851 NA 0.5437 False NA ,,, NA NA NA 2504 0.4468 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L21934 CCDS1330.1, CCDS58047.1, CCDS58048.1 1q25 2008-08-26 2008-08-26 ENSG00000057252 ENSG00000057252 6646 2.3.1.26 11177 protein-coding gene gene with protein product acyl-Coenzyme A: cholesterol acyltransferase 102642 sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1 SOAT, STAT NA 8407899 Standard NM_003101 NM_003101 NA Approved ACAT uc001gml.3 P35610 OTTHUMG00000035253 ENST00000367619.3:c.*4241A>G chr1.hg19:g.179327017A>G NA A6NC40|A8K3P4|A9Z1V7|B4DU95|Q5T0X4|Q8N1E4 hg19 CCDS1330.1 0.02 4.338464 TTTxTGT COVERED NOVEL SOAT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000085286.2 3 15.34167 KEEP 0 0 0 51 1497 AA 1 1 0 + 9 60 340 0 0 23.790664 131 60 4737 221 ENST00000367619.3 0.064286 1 AXDND1 126859 __UNKNOWN__ __UNKNOWN__ 1 179364391 179364391 __UNKNOWN__ Intron SNP A A G rs61173288 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:179364391A>G ENST00000367618.3 + 11 1496 AXDND1_ENST00000461179.2_Intron|AXDND1_ENST00000457238.2_Intron NM_144696.4 NP_653297.3 Q5T1B0 AXDN1_HUMAN axonemal dynein light chain domain containing 1 NA NA NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 59 AGAAGCTTATATAGCTTCTGA 0.313 NA A||| 1820 0.363419 0.1884 0.4135 5008 , , NA 17153 0.4246 NA 0.4294 False NA ,,, NA NA NA 2504 0.4335 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BX647935 CCDS30948.1 1q25.2 2011-02-18 2011-02-18 2011-02-18 ENSG00000162779 ENSG00000162779 126859 26564 protein-coding gene gene with protein product chromosome 1 open reading frame 125 C1orf125 NA 14702039 Standard NM_144696 NM_144696 NA Approved FLJ32940 uc001gmo.3 Q5T1B0 OTTHUMG00000035266 ENST00000367618.3:c.1109+54A>G chr1.hg19:g.179364391A>G NA Q6AWB2|Q96LJ3|Q96M01 hg19 CCDS30948.1 0.02 1.745768 TATxTAG COVERED NOVEL AXDND1-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000085312.1 0 4.513024 KEEP 0 0 0 15 450 AA 0.99649 0.99642 0 + 4 60 143 0 0 8.991248 92 60 3343 116 ENST00000367618.3 0.041667 0.99993 AXDND1 126859 __UNKNOWN__ __UNKNOWN__ 1 179504130 179504130 __UNKNOWN__ Intron SNP G G A rs6425574 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:179504130G>A ENST00000367618.3 + 25 3418 NM_144696.4 NP_653297.3 Q5T1B0 AXDN1_HUMAN axonemal dynein light chain domain containing 1 NA NA NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 59 CTTTATTCAGGTTGTATTTAT 0.323 NA G||| 1766 0.352636 0.146 0.3963 5008 , , NA 16435 0.4256 NA 0.4095 False NA ,,, NA NA NA 2504 0.4673 NA NA NA NA 0 G 714,3080 73,568,1256 49 49 49 0.1 0 1 dbSNP_116 49 3012,5278 559,1894,1692 no intron AXDND1 NM_144696.4 632,2462,2948 AA,AG,GG 36.3329,18.8192,30.8342 179504130 3726,8358 1897 4145 6042 SO:0001627 intron_variant BX647935 CCDS30948.1 1q25.2 2011-02-18 2011-02-18 2011-02-18 ENSG00000162779 ENSG00000162779 126859 26564 protein-coding gene gene with protein product chromosome 1 open reading frame 125 C1orf125 NA 14702039 Standard NM_144696 NM_144696 NA Approved FLJ32940 uc001gmo.3 Q5T1B0 OTTHUMG00000035266 ENST00000367618.3:c.3031+33G>A chr1.hg19:g.179504130G>A NA Q6AWB2|Q96LJ3|Q96M01 hg19 CCDS30948.1 0.02 8.964663 CAGxTTG COVERED NOVEL AXDND1-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000085312.1 2 2.47895 KEEP 0 2 65 31 1124 GG 0.999998 0.999998 0 + 7 60 260 0 0 15.945528 208 60 7840 317 ENST00000367618.3 0.032558 1 NPHS2 7827 __UNKNOWN__ __UNKNOWN__ 1 179520506 179520506 __UNKNOWN__ Silent SNP G G A rs1410592 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:179520506G>A ENST00000367615.4 - 8 1022 c.954C>T c.(952-954)gcC>gcT p.A318A AXDND1_ENST00000367618.3_Intron|NPHS2_ENST00000367616.4_Silent_p.A250A NM_014625.2 NP_055440.1 Q9NP85 PODO_HUMAN nephrosis 2, idiopathic, steroid-resistant (podocin) 318 NA actin cytoskeleton reorganization (GO:0031532)|excretion (GO:0007588)|metanephric glomerular visceral epithelial cell development (GO:0072249) cell-cell junction (GO:0005911)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057) p.A318A(1) NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 20 GAAGCTGAACGGCAGCAGGGG 0.502 NA A||| 2943 0.58766 0.5946 0.634 5008 , , NA 21578 0.4911 NA 0.6153 False NA ,,, NA NA NA 2504 0.6166 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) A , 2642,1764 524.1+/-371.2 779,1084,340 94 92 93 954, -4.4 0.2 1 dbSNP_88 93 5385,3215 485.6+/-371.7 1685,2015,600 no coding-synonymous,intron NPHS2,AXDND1 NM_014625.2,NM_144696.4 , 2464,3099,940 AA,AG,GG 37.3837,40.0363,38.2823 , 318/384, 179520506 8027,4979 2203 4300 6503 SO:0001819 synonymous_variant AJ279254 CCDS1331.1, CCDS72988.1 1q25-q31 2014-06-27 ENSG00000116218 ENSG00000116218 7827 13394 protein-coding gene gene with protein product 604766 NA 8589695, 10742096 Standard XM_005245483 NA Approved SRN1, PDCN uc001gmq.4 Q9NP85 OTTHUMG00000035252 ENST00000367615.4:c.954C>T chr1.hg19:g.179520506G>A NA B1AM32|B1AM33|Q8N6Q5 hg19 CCDS1331.1 0.02 9.3794 AACxGCA COVERED NOVEL NPHS2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000085283.1 0 4.213541 KEEP 0 0 0 14 481 GG 0.995343 0.995343 0 - 12 60 445 0 0 30.469512 190 60 6860 252 ENST00000367615.4 0.059406 1 NPHS2 7827 __UNKNOWN__ __UNKNOWN__ 1 179545050 179545050 __UNKNOWN__ 5'UTR SNP C C A rs12406197 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:179545050C>A ENST00000367615.4 - 0 18 NPHS2_ENST00000367616.4_5'UTR NM_014625.2 NP_055440.1 Q9NP85 PODO_HUMAN nephrosis 2, idiopathic, steroid-resistant (podocin) NA NA actin cytoskeleton reorganization (GO:0031532)|excretion (GO:0007588)|metanephric glomerular visceral epithelial cell development (GO:0072249) cell-cell junction (GO:0005911)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057) NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 20 GCTAGGGGCACGGGAGCGCAG 0.761 NA C||| 918 0.183307 0.1331 0.2795 5008 , , NA 10644 0.119 NA 0.2396 False NA ,,, NA NA NA 2504 0.1912 NA NA NA NA 0 GRCh37 CR068160 NPHS2 R rs12406197 C 389,2581 40,309,1136 3 3 3 1.3 0 1 dbSNP_120 3 1457,5131 189,1079,2026 no utr-5 NPHS2 NM_014625.2 229,1388,3162 AA,AC,CC 22.116,13.0976,19.3137 179545050 1846,7712 1485 3294 4779 SO:0001623 5_prime_UTR_variant AJ279254 CCDS1331.1, CCDS72988.1 1q25-q31 2014-06-27 ENSG00000116218 ENSG00000116218 7827 13394 protein-coding gene gene with protein product 604766 NA 8589695, 10742096 Standard XM_005245483 NA Approved SRN1, PDCN uc001gmq.4 Q9NP85 OTTHUMG00000035252 ENST00000367615.4:c.-51G>T chr1.hg19:g.179545050C>A NA B1AM32|B1AM33|Q8N6Q5 hg19 CCDS1331.1 0.02 -0.377171 GCAxGGG COVERED NOVEL NPHS2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000085283.1 0 3.00932 KEEP 0 0 0 10 333 CC 0.992708 0.90244 0 - 3 60 107 0 0 7.439366 39 60 1246 57 ENST00000367615.4 0.071429 0.909069 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 179559386 179559386 __UNKNOWN__ IGR SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:179559386G>A NA NA RNU5F-2P (13902 upstream) : RP11-545A16.4 (120 downstream) NA NA NA TAGATAAGATGTGTGAAAATA 0.363 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.179559386G>A NA hg19 0.02 9.554178 GATxTGT COVERED NOVEL 0 3 9.631399 KEEP 21 0 0 32 1123 GG 0.999988 0.999988 0 9 60 314 0 0 18.226932 286 60 10848 377 0.030508 1 TDRD5 163589 __UNKNOWN__ __UNKNOWN__ 1 179562740 179562740 __UNKNOWN__ Missense_Mutation SNP G G C rs61310274 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:179562740G>C ENST00000367614.1 + 3 737 c.378G>C c.(376-378)agG>agC p.R126S TDRD5_ENST00000294848.8_Missense_Mutation_p.R126S|TDRD5_ENST00000444136.1_Missense_Mutation_p.R126S NM_001199091.1 NP_001186020.1 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 126 NA R -> S (in Ref. 3; AAI30533/AAI44059). {ECO:0000305}. DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286) chromatoid body (GO:0033391)|pi-body (GO:0071546) NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 77 ACCGAGGAAGGGTTGCCCCTA 0.453 NA G||| 1541 0.307708 0.0877 0.4092 5008 , , NA 20589 0.371 NA 0.3897 False NA ,,, NA NA NA 2504 0.3834 NA NA NA NA 0 G SER/ARG,SER/ARG,SER/ARG,SER/ARG 658,3748 279.6+/-274.9 54,550,1599 167 155 159 378,378,378,378 2.6 1 1 dbSNP_129 159 3124,5476 477.0+/-369.5 555,2014,1731 yes missense,missense,missense,missense TDRD5 NM_001199085.1,NM_001199089.1,NM_001199091.1,NM_173533.3 110,110,110,110 609,2564,3330 CC,CG,GG 36.3256,14.9342,29.0789 probably-damaging,probably-damaging,probably-damaging,probably-damaging 126/1036,126/1036,126/982,126/982 179562740 3782,9224 2203 4300 6503 SO:0001583 missense AK092142 CCDS1332.1, CCDS55663.1 1q24.2 2013-01-23 ENSG00000162782 ENSG00000162782 163589 Tudor domain containing 20614 protein-coding gene gene with protein product NA Standard NM_173533 NM_001199085 NA Approved FLJ34823, TUDOR3 uc010pnp.2 Q8NAT2 OTTHUMG00000035259 ENST00000367614.1:c.378G>C chr1.hg19:g.179562740G>C ENSP00000356586:p.Arg126Ser NA A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2 hg19 CCDS1332.1 0.02 17.81797 AAGxGTT COVERED 725 0.33195970695970695 46 0.09349593495934959 153 0.42265193370165743 236 0.4125874125874126 290 0.38258575197889183 G 18.60 3.658717 0.67586 0.149342 0.363256 ENSG00000162782 ENST00000367614;ENST00000294848;ENST00000444136 T;T;T 0.12879 2.64;2.64;2.78 5.59 2.58 0.30949 . 0.200944 0.41194 D 0.000923 T 0.00012 0.0000 L 0.27053 0.805 0.31208 P 0.6990000000000001 D;D 0.89917 1.0;1.0 D;D 0.80764 0.994;0.986 T 0.46162 -0.9211 9 0.30854 T 0.27 -0.0298 7.1341 0.25519 0.3841:0.0:0.6159:0.0 rs61310274 126;126 Q8NAT2-1;Q8NAT2 .;TDRD5_HUMAN S 126 ENSP00000356586:R126S;ENSP00000294848:R126S;ENSP00000406052:R126S ENSP00000294848:R126S R + 3 2 TDRD5 177829363 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 0.835000 0.27531 0.625000 0.30304 0.655000 0.94253 AGG NOVEL TDRD5-002 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000085295.1 3 3.684191 KEEP 0 4 110 51 1805 GG 1 1 0 + 14 60 523 0 0 32.011175 429 60 15611 589 ENST00000367614.1 0.031603 1 TDRD5 163589 __UNKNOWN__ __UNKNOWN__ 1 179620253 179620253 __UNKNOWN__ Intron SNP G G A rs6682666 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:179620253G>A ENST00000367614.1 + 12 2360 TDRD5_ENST00000294848.8_Intron|TDRD5_ENST00000444136.1_Intron NM_001199091.1 NP_001186020.1 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 NA NA DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286) chromatoid body (GO:0033391)|pi-body (GO:0071546) NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 77 ATTTCACCACGTCAAGGTATA 0.343 NA G||| 1748 0.349042 0.2201 0.4294 5008 , , NA 15233 0.37 NA 0.3996 False NA ,,, NA NA NA 2504 0.3926 NA NA NA NA 0 G ,,,, 1135,3265 151,833,1216 30 30 30 ,,,, -8.3 0 1 dbSNP_116 30 3222,5378 603,2016,1681 no intron,intron,intron,intron,intron TDRD5 NM_001199085.1,NM_001199089.1,NM_001199091.1,NM_001199092.1,NM_173533.3 ,,,, 754,2849,2897 AA,AG,GG 37.4651,25.7955,33.5154 ,,,, ,,,, 179620253 4357,8643 2200 4300 6500 SO:0001627 intron_variant AK092142 CCDS1332.1, CCDS55663.1 1q24.2 2013-01-23 ENSG00000162782 ENSG00000162782 163589 Tudor domain containing 20614 protein-coding gene gene with protein product NA Standard NM_173533 NM_001199085 NA Approved FLJ34823, TUDOR3 uc010pnp.2 Q8NAT2 OTTHUMG00000035259 ENST00000367614.1:c.2001+51G>A chr1.hg19:g.179620253G>A NA A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2 hg19 CCDS1332.1 0.02 6.545798 CACxTCA COVERED NOVEL TDRD5-002 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000085295.1 1 3.61188 KEEP 0 0 0 12 432 GG 0.993634 0.993634 0 + 6 60 218 0 0 13.353685 167 60 6153 197 ENST00000367614.1 0.034682 1 FAM163A 148753 __UNKNOWN__ __UNKNOWN__ 1 179783922 179783922 __UNKNOWN__ 3'UTR SNP T T A rs2236589 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:179783922T>A ENST00000341785.4 + 0 1498 NM_173509.2 NP_775780.1 Q96GL9 F163A_HUMAN family with sequence similarity 163, member A NA NA integral component of membrane (GO:0016021) endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1) 15 TCCCGTAGGGTCGTTGATTCC 0.532 NA OREG0014016 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) A||| 2564 0.511981 0.907 0.3458 5008 , , NA 18632 0.2927 NA 0.3917 False NA ,,, NA NA NA 2504 0.4458 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC009382 CCDS1333.1 1q25.2 2008-06-05 2008-06-05 2008-06-05 ENSG00000143340 ENSG00000143340 148753 28274 protein-coding gene gene with protein product 611727 chromosome 1 open reading frame 76 C1orf76 NA 12477932 Standard NM_173509 NM_173509 NA Approved MGC16664 uc001gnj.3 Q96GL9 OTTHUMG00000035262 ENST00000341785.4:c.*598T>A chr1.hg19:g.179783922T>A 1956 A8K8R7 hg19 CCDS1333.1 0.02 16.99929 GGGxCGT COVERED NOVEL FAM163A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000085300.1 1 50.240782 KEEP 0 0 0 167 5133 TT 1 1 0 + 30 60 1068 0 0 74.519629 380 60 13223 716 ENST00000341785.4 0.073171 1 TOR1AIP2 163590 __UNKNOWN__ __UNKNOWN__ 1 179813613 179813613 __UNKNOWN__ 3'UTR SNP T T C rs386637212|rs1281410 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:179813613T>C ENST00000367612.3 - 0 3393 TOR1AIP2_ENST00000609928.1_3'UTR NM_145034.4 NP_659471.1 Q9H496 IFG15_HUMAN torsin A interacting protein 2 NA NA cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2) 18 CCAGTTGAAATAATCCAGGAT 0.338 NA C||| 2731 0.545327 0.9697 0.3847 5008 , , NA 19190 0.3095 NA 0.4384 False NA ,,, NA NA NA 2504 0.4387 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS1334.1 1q25.2 2012-02-09 ENSG00000169905 ENSG00000169905 163590 24055 protein-coding gene gene with protein product 614513 NA 15767459 Standard NM_145034 NM_145034 NA Approved LULL1, NET9, IFRG15 uc001gnk.3 Q8NFQ8 OTTHUMG00000035265 ENST00000367612.3:c.*1593A>G chr1.hg19:g.179813613T>C NA Q05BU2 hg19 CCDS1334.1 0.02 6.869603 AAAxAAT COVERED NOVEL TOR1AIP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000085304.1 1 7.220637 KEEP 0 0 0 24 744 TT 0.999909 0.999909 0 - 6 60 235 0 0 14.757371 187 60 6699 251 ENST00000367612.3 0.031088 1 CEP350 9857 __UNKNOWN__ __UNKNOWN__ 1 180080313 180080313 __UNKNOWN__ 3'UTR SNP C C T rs16855289 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:180080313C>T ENST00000367607.3 + 0 9789 CEP350_ENST00000490141.1_3'UTR NM_014810.4 NP_055625.4 Q5VT06 CE350_HUMAN centrosomal protein 350kDa NA NA microtubule anchoring (GO:0034453) centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634) central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 66 GCAAATAAATCGAACGCTGAG 0.443 NA C||| 241 0.048123 0.0643 0.0216 5008 , , NA 23183 0.0615 NA 0.0169 False NA ,,, NA NA NA 2504 0.0634 NA NA NA NA 0 C 222,4184 134.5+/-170.7 6,210,1987 70 59 63 -3.3 0.7 1 dbSNP_123 63 153,8447 73.5+/-136.2 2,149,4149 no utr-3 CEP350 NM_014810.4 8,359,6136 TT,TC,CC 1.7791,5.0386,2.8833 180080313 375,12631 2203 4300 6503 SO:0001624 3_prime_UTR_variant AF287356 CCDS1336.1 1q25.2 2014-02-20 ENSG00000135837 ENSG00000135837 9857 24238 protein-coding gene gene with protein product centrosome associated protein 350 NA 16314388, 15615782 Standard NM_014810 NM_014810 NA Approved KIAA0480, CAP350 uc001gnt.3 Q5VT06 OTTHUMG00000035269 ENST00000367607.3:c.*17C>T chr1.hg19:g.180080313C>T NA O75068|Q8TDK3|Q8WY20 hg19 CCDS1336.1 0.02 26.428285 AATxGAA COVERED NOVEL CEP350-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000085315.2 2 41.064582 KEEP 0 1 30 147 4971 CC 1 1 0 + 21 60 755 0 0 45.610839 608 60 21952 963 ENST00000367607.3 0.033386 1 XPR1 9213 __UNKNOWN__ __UNKNOWN__ 1 180859368 180859368 __UNKNOWN__ 3'UTR SNP T T G rs1043069 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:180859368T>G ENST00000367590.4 + 0 8455 NM_004736.3 NP_004727.2 Q9UBH6 XPR1_HUMAN xenotropic and polytropic retrovirus receptor 1 NA NA G-protein coupled receptor signaling pathway (GO:0007186) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618) breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 35 ATTATTACAATTTCTCTCTGT 0.328 NA G||| 1644 0.328275 0.3941 0.3386 5008 , , NA 20091 0.1597 NA 0.3857 False NA ,,, NA NA NA 2504 0.3466 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF099082 CCDS1340.1, CCDS44284.1 1q25.1 2013-07-18 2010-04-23 ENSG00000143324 ENSG00000143324 9213 12827 protein-coding gene gene with protein product 605237 xenotropic and polytropic retrovirus receptor NA 9990033 Standard NM_004736 NM_004736 NA Approved SYG1, X3 uc001goi.3 Q9UBH6 OTTHUMG00000035116 ENST00000367590.4:c.*6166T>G chr1.hg19:g.180859368T>G NA O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9 hg19 CCDS1340.1 0.02 11.822148 CAAxTTC COVERED NOVEL XPR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000084996.2 2 13.538404 KEEP 0 0 0 45 1411 TT 1 1 0 + 8 60 303 0 0 18.56263 256 60 9363 378 ENST00000367590.4 0.030303 1 KIAA1614 57710 __UNKNOWN__ __UNKNOWN__ 1 180886063 180886063 __UNKNOWN__ Missense_Mutation SNP G G A rs77981586 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:180886063G>A ENST00000367588.4 + 2 879 c.824G>A c.(823-825)cGc>cAc p.R275H NM_020950.1 NP_066001.1 Q5VZ46 K1614_HUMAN KIAA1614 275 NA NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 33 CTGGGTGAGCGCTGGAGAGCT 0.612 NA G||| 11 0.00219649 0.0008 0.0 5008 , , NA 18807 0.0099 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 G HIS/ARG 4,4156 0,4,2076 95 112 107 824 1 0.5 1 dbSNP_131 107 2,8436 0,2,4217 yes missense KIAA1614 NM_020950.1 29 0,6,6293 AA,AG,GG 0.0237,0.0962,0.0476 possibly-damaging 275/1191 180886063 6,12592 2080 4219 6299 SO:0001583 missense AB046834 CCDS41442.1 1q25.3 2008-02-05 ENSG00000135835 ENSG00000135835 57710 29327 protein-coding gene gene with protein product NA Standard XM_046531 NM_020950 NA Approved uc001gok.2 Q5VZ46 OTTHUMG00000035183 ENST00000367588.4:c.824G>A chr1.hg19:g.180886063G>A ENSP00000356560:p.Arg275His NA Q5VZ45|Q9HCF8 hg19 CCDS41442.1 0.02 10.564899 AGCxCTG COVERED 8 0.003663003663003663 1 0.0020325203252032522 0 0.0 7 0.012237762237762238 0 0.0 G 5.208 0.223901 0.09863 9.62E-4 2.37E-4 ENSG00000135835 ENST00000367588 T 0.14893 2.47 4.57 0.991 0.19813 . 0.277746 0.19477 N 0.113314 T 0.03739 0.0106 N 0.08118 0 0.23309 N 0.997936 P 0.45044 0.849 B 0.34722 0.188 T 0.29305 -1.0016 9 0.34782 T 0.22 -4.0894 4.5398 0.12052 0.0:0.1816:0.1705:0.6479 . 275 Q5VZ46 K1614_HUMAN H 275 ENSP00000356560:R275H ENSP00000356560:R275H R + 2 0 KIAA1614 179152686 0.133000 0.22466 0.517000 0.27799 0.064000 0.16182 0.984000 0.29565 0.007000 0.14760 -1.320000 0.01293 CGC NOVEL KIAA1614-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000085151.1 2 24.375999 KEEP 0 0 0 81 2781 GG 1 1 0 + 10 60 355 0 0 21.702266 261 60 9203 420 ENST00000367588.4 0.0369 1 KIAA1614 57710 __UNKNOWN__ __UNKNOWN__ 1 180897569 180897569 __UNKNOWN__ Silent SNP C C T rs3747958 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:180897569C>T ENST00000367588.4 + 4 1120 c.1065C>T c.(1063-1065)acC>acT p.T355T KIAA1614_ENST00000367587.1_5'UTR NM_020950.1 NP_066001.1 Q5VZ46 K1614_HUMAN KIAA1614 355 NA NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 33 GCTGCAGGACCGTTGGTCCCA 0.637 NA C||| 1953 0.389976 0.2731 0.4063 5008 , , NA 16840 0.5516 NA 0.4135 False NA ,,, NA NA NA 2504 0.3456 NA NA NA NA 0 C 1136,2920 167,802,1059 111 116 114 1065 5.4 1 1 dbSNP_107 114 3433,4953 709,2015,1469 no coding-synonymous KIAA1614 NM_020950.1 876,2817,2528 TT,TC,CC 40.9373,28.0079,36.7224 355/1191 180897569 4569,7873 2028 4193 6221 SO:0001819 synonymous_variant AB046834 CCDS41442.1 1q25.3 2008-02-05 ENSG00000135835 ENSG00000135835 57710 29327 protein-coding gene gene with protein product NA Standard XM_046531 NM_020950 NA Approved uc001gok.2 Q5VZ46 OTTHUMG00000035183 ENST00000367588.4:c.1065C>T chr1.hg19:g.180897569C>T NA Q5VZ45|Q9HCF8 hg19 CCDS41442.1 0.02 13.176236 GACxGTT COVERED NOVEL KIAA1614-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000085151.1 3 36.109096 KEEP 0 0 0 120 4020 CC 1 1 0 + 11 60 407 0 0 25.088422 314 60 11036 587 ENST00000367588.4 0.033846 1 KIAA1614 57710 __UNKNOWN__ __UNKNOWN__ 1 180905694 180905694 __UNKNOWN__ Silent SNP C C T rs3795503 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:180905694C>T ENST00000367588.4 + 5 2704 c.2649C>T c.(2647-2649)aaC>aaT p.N883N KIAA1614_ENST00000367587.1_Silent_p.N504N NM_020950.1 NP_066001.1 Q5VZ46 K1614_HUMAN KIAA1614 883 NA NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 33 ACTGCAACAACAGCGCACCTC 0.697 NA C||| 1446 0.288738 0.1316 0.2738 5008 , , NA 16039 0.495 NA 0.3012 False NA ,,, NA NA NA 2504 0.2863 NA NA NA NA 0 C 667,3347 63,541,1403 27 33 31 2649 2.4 0 1 dbSNP_107 31 2521,5791 392,1737,2027 no coding-synonymous KIAA1614 NM_020950.1 455,2278,3430 TT,TC,CC 30.3296,16.6168,25.864 883/1191 180905694 3188,9138 2007 4156 6163 SO:0001819 synonymous_variant AB046834 CCDS41442.1 1q25.3 2008-02-05 ENSG00000135835 ENSG00000135835 57710 29327 protein-coding gene gene with protein product NA Standard XM_046531 NM_020950 NA Approved uc001gok.2 Q5VZ46 OTTHUMG00000035183 ENST00000367588.4:c.2649C>T chr1.hg19:g.180905694C>T NA Q5VZ45|Q9HCF8 hg19 CCDS41442.1 0.02 10.302184 CAAxAGC COVERED NOVEL KIAA1614-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000085151.1 4 27.672835 KEEP 0 0 0 92 3211 CC 1 1 0 + 12 60 384 0 0 22.6981 266 60 9971 461 ENST00000367588.4 0.043165 1 KIAA1614 57710 __UNKNOWN__ __UNKNOWN__ 1 180915596 180915596 __UNKNOWN__ 3'UTR SNP T T C rs4652539 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:180915596T>C ENST00000367588.4 + 0 4500 RP11-46A10.5_ENST00000358073.2_RNA|KIAA1614_ENST00000461346.1_Intron NM_020950.1 NP_066001.1 Q5VZ46 K1614_HUMAN KIAA1614 NA NA NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 33 ACCCCATCCATGAGTCTTTCA 0.537 NA T||| 2430 0.485224 0.3245 0.5187 5008 , , NA 19738 0.5962 NA 0.5646 False NA ,,, NA NA NA 2504 0.4826 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB046834 CCDS41442.1 1q25.3 2008-02-05 ENSG00000135835 ENSG00000135835 57710 29327 protein-coding gene gene with protein product NA Standard XM_046531 NM_020950 NA Approved uc001gok.2 Q5VZ46 OTTHUMG00000035183 ENST00000367588.4:c.*872T>C chr1.hg19:g.180915596T>C NA Q5VZ45|Q9HCF8 hg19 CCDS41442.1 0.02 10.757135 CCAxGAG COVERED NOVEL KIAA1614-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000085151.1 4 19.858752 KEEP 0 0 0 66 2073 TT 1 1 0 + 12 60 408 0 0 24.997979 270 60 9967 433 ENST00000367588.4 0.042553 1 KIAA1614 57710 __UNKNOWN__ __UNKNOWN__ 1 180917788 180917788 __UNKNOWN__ 3'UTR SNP C C T rs2150117 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:180917788C>T ENST00000367588.4 + 0 6692 RP11-46A10.5_ENST00000358073.2_RNA|KIAA1614_ENST00000461346.1_Intron NM_020950.1 NP_066001.1 Q5VZ46 K1614_HUMAN KIAA1614 NA NA NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 33 TACCTGCCCCCTCCCCGTGCC 0.557 NA C||| 809 0.161542 0.0356 0.317 5008 , , NA 18096 0.0853 NA 0.3012 False NA ,,, NA NA NA 2504 0.1564 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB046834 CCDS41442.1 1q25.3 2008-02-05 ENSG00000135835 ENSG00000135835 57710 29327 protein-coding gene gene with protein product NA Standard XM_046531 NM_020950 NA Approved uc001gok.2 Q5VZ46 OTTHUMG00000035183 ENST00000367588.4:c.*3064C>T chr1.hg19:g.180917788C>T NA Q5VZ45|Q9HCF8 hg19 CCDS41442.1 0.02 14.892075 CCCxTCC COVERED NOVEL KIAA1614-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000085151.1 1 23.477197 KEEP 0 0 0 78 2847 CC 1 1 0 + 13 60 461 0 0 27.75081 365 60 13605 563 ENST00000367588.4 0.034392 1 KIAA1614 57710 __UNKNOWN__ __UNKNOWN__ 1 180917994 180917994 __UNKNOWN__ 3'UTR SNP T T C rs77556828 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:180917994T>C ENST00000367588.4 + 0 6898 RP11-46A10.5_ENST00000358073.2_RNA|KIAA1614_ENST00000461346.1_Intron NM_020950.1 NP_066001.1 Q5VZ46 K1614_HUMAN KIAA1614 NA NA NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 33 AGGGGGAATGTGTACAAAGAT 0.478 NA T||| 812 0.162141 0.1505 0.1354 5008 , , NA 21281 0.1825 NA 0.1272 False NA ,,, NA NA NA 2504 0.2117 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB046834 CCDS41442.1 1q25.3 2008-02-05 ENSG00000135835 ENSG00000135835 57710 29327 protein-coding gene gene with protein product NA Standard XM_046531 NM_020950 NA Approved uc001gok.2 Q5VZ46 OTTHUMG00000035183 ENST00000367588.4:c.*3270T>C chr1.hg19:g.180917994T>C NA Q5VZ45|Q9HCF8 hg19 CCDS41442.1 0.02 11.000305 ATGxGTA COVERED NOVEL KIAA1614-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000085151.1 3 25.571408 KEEP 0 0 0 85 2608 TT 1 1 0 + 11 60 381 0 0 23.276207 266 60 9365 441 ENST00000367588.4 0.039711 1 KIAA1614 57710 __UNKNOWN__ __UNKNOWN__ 1 180919151 180919151 __UNKNOWN__ 3'UTR SNP T T C rs2297184 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:180919151T>C ENST00000367588.4 + 0 8055 RP11-46A10.5_ENST00000358073.2_RNA|RP11-46A10.4_ENST00000415647.1_RNA|KIAA1614_ENST00000461346.1_Intron NM_020950.1 NP_066001.1 Q5VZ46 K1614_HUMAN KIAA1614 NA NA NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 33 AGAAAAAGATTAGCTCACTCA 0.373 NA T||| 1733 0.346046 0.4304 0.3112 5008 , , NA 22208 0.3462 NA 0.3221 False NA ,,, NA NA NA 2504 0.2812 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB046834 CCDS41442.1 1q25.3 2008-02-05 ENSG00000135835 ENSG00000135835 57710 29327 protein-coding gene gene with protein product NA Standard XM_046531 NM_020950 NA Approved uc001gok.2 Q5VZ46 OTTHUMG00000035183 ENST00000367588.4:c.*4427T>C chr1.hg19:g.180919151T>C NA Q5VZ45|Q9HCF8 hg19 CCDS41442.1 0.02 6.580779 GATxAGC COVERED NOVEL KIAA1614-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000085151.1 0 8.725911 KEEP 0 0 0 29 907 TT 0.999997 0.999997 0 + 8 60 305 0 0 20.331361 161 60 5837 236 ENST00000367588.4 0.047337 1 RP11-46A10.5 0 __UNKNOWN__ __UNKNOWN__ 1 180938055 180938055 __UNKNOWN__ RNA SNP T T C rs2002040 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:180938055T>C ENST00000358073.2 - 0 365 NA NA NA GCACAGCCTGTGCATGAGCGG 0.532 NA T||| 609 0.121605 0.0416 0.1859 5008 , , NA 18403 0.0893 NA 0.2068 False NA ,,, NA NA NA 2504 0.1299 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000358073.2: chr1.hg19:g.180938055T>C NA hg19 0.02 -0.429786 CTGxGCA COVERED NOVEL RP11-46A10.5-001 KNOWN basic antisense NA antisense OTTHUMT00000085133.1 1 2.708298 KEEP 0 0 0 9 283 TT 0.99254 0.947371 0 - 4 60 106 0 0 6.526223 45 60 1600 71 ENST00000358073.2 0.081633 0.954491 RP11-46A10.5 0 __UNKNOWN__ __UNKNOWN__ 1 180938117 180938117 __UNKNOWN__ RNA SNP G G A rs2002041 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:180938117G>A ENST00000358073.2 - 0 365 NA NA NA TGCCTTGGTTGTAAATCTAGT 0.483 NA G||| 611 0.122005 0.0424 0.1873 5008 , , NA 20559 0.0893 NA 0.2068 False NA ,,, NA NA NA 2504 0.1299 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000358073.2: chr1.hg19:g.180938117G>A NA hg19 0.02 -0.438656 GTTxTAA COVERED NOVEL RP11-46A10.5-001 KNOWN basic antisense NA antisense OTTHUMT00000085133.1 0 3.611702 KEEP 0 0 0 12 420 GG 0.993634 0.953748 0 - 3 60 109 0 0 7.404649 47 60 1758 81 ENST00000358073.2 0.06 0.959859 STX6 10228 __UNKNOWN__ __UNKNOWN__ 1 180991665 180991665 __UNKNOWN__ Intron SNP C C G rs12565758 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:180991665C>G ENST00000258301.5 - 1 273 STX6_ENST00000542060.1_Intron NM_005819.4 NP_005810.1 O43752 STX6_HUMAN syntaxin 6 NA NA endosome organization (GO:0007032)|Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle fusion (GO:0006906) clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|trans-Golgi network membrane (GO:0032588) SNAP receptor activity (GO:0005484) breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)|prostate(1) 10 ACTGTTCCCCCTCCCCAGCTC 0.652 NA C||| 1338 0.267173 0.1936 0.3732 5008 , , NA 13635 0.2004 NA 0.3419 False NA ,,, NA NA NA 2504 0.2832 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ002078 CCDS1341.1, CCDS65738.1 1q25.3 2008-02-05 ENSG00000135823 ENSG00000135823 10228 11441 protein-coding gene gene with protein product 603944 NA 10080545 Standard NM_005819 XM_005244824 NA Approved uc021pfr.1 O43752 OTTHUMG00000035179 ENST00000258301.5:c.35+109G>C chr1.hg19:g.180991665C>G NA B2R652|B4DR17|Q5VY08|Q6FH83 hg19 CCDS1341.1 0.02 5.78439 CCCxTCC COVERED NOVEL STX6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000085143.1 1 34.445562 KEEP 0 1 36 127 4411 CC 1 1 0 - 8 60 262 0 0 16.045268 161 60 5854 400 ENST00000258301.5 0.047337 1 MR1 3140 __UNKNOWN__ __UNKNOWN__ 1 181030366 181030366 __UNKNOWN__ 3'UTR SNP C C T rs115874785 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:181030366C>T ENST00000367580.5 + 0 6996 NM_001531.2 NP_001522.1 Q95460 HMR1_HUMAN major histocompatibility complex, class I-related NA NA antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|signal transduction (GO:0007165) endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612) MHC class I receptor activity (GO:0032393)|peptide antigen binding (GO:0042605) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 18 Antithymocyte globulin(DB00098) GTTTGTGAACCAACTGAAGAC 0.438 NA C||| 228 0.0455272 0.146 0.0187 5008 , , NA 22941 0.0218 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA Colon(174;1412 1962 45296 46549 47110) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF010446 CCDS1342.1, CCDS53440.1, CCDS53441.1, CCDS53442.1 1q25.3 2013-01-11 2003-03-05 2003-03-07 ENSG00000153029 ENSG00000153029 3140 Immunoglobulin superfamily / C1-set domain containing 4975 protein-coding gene gene with protein product 600764 major histocompatibility complex, class I-like sequence HLALS NA 7624800, 9784382 Standard NM_001531 NM_001194999 NA Approved uc001goq.2 Q95460 OTTHUMG00000035175 ENST00000367580.5:c.*5965C>T chr1.hg19:g.181030366C>T NA A8K2V9|B4E3B1|O97985|O97986|Q53GM1|Q95HB8|Q9MY23|Q9NPL2|Q9TQB3|Q9TQB9|Q9TQK3 hg19 CCDS1342.1 0.02 1.994663 AACxAAC COVERED NOVEL MR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000085134.2 1 5.116734 KEEP 0 0 0 17 610 CC 0.999366 0.998585 0 + 5 60 184 0 0 12.69303 74 60 2828 114 ENST00000367580.5 0.063291 0.999218 CACNA1E 777 __UNKNOWN__ __UNKNOWN__ 1 181752802 181752802 __UNKNOWN__ Intron SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:181752802C>T ENST00000367570.1 + 40 5529 CACNA1E_ENST00000367567.4_Intron|CACNA1E_ENST00000358338.5_Intron|CACNA1E_ENST00000526775.1_Intron|CACNA1E_ENST00000360108.3_Intron|CACNA1E_ENST00000357570.5_Intron|CACNA1E_ENST00000367573.2_Intron NM_000721.3 NP_000712.2 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit NA NA calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810) plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891) calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245) NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 TTTCTTTTTTCTCTTTCACAC 0.448 NA NA NA NA NA NA NA NA NA NA NA 0 60 55 57 NA NA 1 NA 181752802 1878 4117 5995 SO:0001627 intron_variant AK096563 CCDS53443.1, CCDS55664.1, CCDS55665.1 1q25.3 2013-01-10 2007-02-16 ENSG00000198216 ENSG00000198216 777 Calcium channel subunits, Voltage-gated ion channels / Calcium channels, EF-hand domain containing 1392 protein-coding gene gene with protein product 601013 CACNL1A6 NA 8388125, 16382099 Standard NM_000721 NM_001205293 NA Approved Cav2.3, BII, CACH6 uc009wxt.3 Q15878 OTTHUMG00000037301 ENST00000367570.1:c.5365-13C>T chr1.hg19:g.181752802C>T NA B1AM12|B1AM13|B1AM14|Q14580|Q14581 hg19 CCDS53443.1 0.02 1.510569 TTTxTCT COVERED NOVEL CACNA1E-001 KNOWN non_canonical_U12|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000090791.2 1 4.108936 KEEP 0 1 6 16 515 CC 0.999366 0.999171 0 + 7 60 150 0 0 8.030745 82 70 2876 154 ENST00000367570.1 0.078652 0.999804 CACNA1E 777 __UNKNOWN__ __UNKNOWN__ 1 181759657 181759657 __UNKNOWN__ Missense_Mutation SNP G G A rs704326 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:181759657G>A ENST00000367570.1 + 44 6028 c.5863G>A c.(5863-5865)Gcc>Acc p.A1955T CACNA1E_ENST00000367567.4_Missense_Mutation_p.A1562T|CACNA1E_ENST00000358338.5_Missense_Mutation_p.A1887T|CACNA1E_ENST00000526775.1_Missense_Mutation_p.A1936T|CACNA1E_ENST00000360108.3_Missense_Mutation_p.A1936T|CACNA1E_ENST00000357570.5_Missense_Mutation_p.A1906T|CACNA1E_ENST00000367573.2_Missense_Mutation_p.A1955T NM_000721.3 NP_000712.2 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1955 NA A -> T (in dbSNP:rs704326). {ECO:0000269|PubMed:7536609}. calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810) plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891) calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245) NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 TATGGACCCCGCCGATGACGG 0.483 NA G||| 1384 0.276358 0.1203 0.3242 5008 , , NA 18450 0.3879 NA 0.4314 False NA ,,, NA NA NA 2504 0.1789 NA NA NA NA 0 G THR/ALA,THR/ALA,THR/ALA 591,3217 55,481,1368 81 92 89 5863,5863,5806 -1.5 0 1 dbSNP_86 89 3736,4484 850,2036,1224 yes missense,missense,missense CACNA1E NM_000721.3,NM_001205293.1,NM_001205294.1 58,58,58 905,2517,2592 AA,AG,GG 45.4501,15.52,35.9744 benign,benign,benign 1955/2271,1955/2314,1936/2252 181759657 4327,7701 1904 4110 6014 SO:0001583 missense AK096563 CCDS53443.1, CCDS55664.1, CCDS55665.1 1q25.3 2013-01-10 2007-02-16 ENSG00000198216 ENSG00000198216 777 Calcium channel subunits, Voltage-gated ion channels / Calcium channels, EF-hand domain containing 1392 protein-coding gene gene with protein product 601013 CACNL1A6 NA 8388125, 16382099 Standard NM_000721 NM_001205293 NA Approved Cav2.3, BII, CACH6 uc009wxt.3 Q15878 OTTHUMG00000037301 ENST00000367570.1:c.5863G>A chr1.hg19:g.181759657G>A ENSP00000356542:p.Ala1955Thr NA B1AM12|B1AM13|B1AM14|Q14580|Q14581 hg19 CCDS53443.1 0.02 8.433009 CCCxCCG COVERED 784 0.358974358974359 58 0.11788617886178862 139 0.3839779005524862 254 0.44405594405594406 333 0.4393139841688654 G 1.618 -0.522134 0.04171 0.1552 0.454501 ENSG00000198216 ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573 D;D;D;D;D;D;D 0.96365 -3.92;-3.92;-3.83;-3.92;-3.99;-3.84;-3.83 5.54 -1.5 0.08691 . 1.620940 0.02678 N 0.109393 T 0.00012 0.0000 N 0.03608 -0.345 0.80722 P 0.0 B;B 0.10296 0.003;0.0 B;B 0.04013 0.001;0.001 T 0.31336 -0.9947 9 0.14656 T 0.56 . 11.663 0.51358 0.5216:0.0:0.4784:0.0 rs704326;rs56466668;rs60254499;rs704326 1936;1955 Q15878-2;Q15878-3 .;. T 1955;1936;1906;1887;1562;1936;1955 ENSP00000356542:A1955T;ENSP00000434814:A1936T;ENSP00000350183:A1906T;ENSP00000351101:A1887T;ENSP00000356539:A1562T;ENSP00000353222:A1936T;ENSP00000356545:A1955T ENSP00000350183:A1906T A + 1 0 CACNA1E 180026280 0.000000 0.05858 0.002000 0.10522 0.463000 0.32649 0.331000 0.19733 -0.148000 0.11234 -0.768000 0.03414 GCC NOVEL CACNA1E-001 KNOWN non_canonical_U12|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000090791.2 0 3.244267 KEEP 0 1 20 18 628 GG 0.99986 0.99986 0 + 9 60 314 0 0 19.42433 210 60 7237 294 ENST00000367570.1 0.041096 1 CACNA1E 777 __UNKNOWN__ __UNKNOWN__ 1 181771225 181771225 __UNKNOWN__ 3'UTR SNP C C T rs3930440 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:181771225C>T ENST00000526775.1 + 0 10176 NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit NA NA calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810) plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891) calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245) NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 TGGACAGGGGCAGGGCTCCAG 0.592 NA C||| 848 0.169329 0.0197 0.1354 5008 , , NA 17951 0.248 NA 0.2903 False NA ,,, NA NA NA 2504 0.1902 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK096563 CCDS53443.1, CCDS55664.1, CCDS55665.1 1q25.3 2013-01-10 2007-02-16 ENSG00000198216 ENSG00000198216 777 Calcium channel subunits, Voltage-gated ion channels / Calcium channels, EF-hand domain containing 1392 protein-coding gene gene with protein product 601013 CACNL1A6 NA 8388125, 16382099 Standard NM_000721 NM_001205293 NA Approved Cav2.3, BII, CACH6 uc009wxt.3 Q15878 OTTHUMG00000037301 ENST00000526775.1:c.*3255C>T chr1.hg19:g.181771225C>T NA B1AM12|B1AM13|B1AM14|Q14580|Q14581 hg19 CCDS55665.1 0.02 7.835523 GGGxAGG COVERED NOVEL CACNA1E-002 KNOWN non_canonical_U12|basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000090792.2 1 6.019766 KEEP 0 0 0 20 723 CC 0.999863 0.999863 0 + 8 60 281 0 0 16.844422 222 60 8411 283 ENST00000526775.1 0.034783 1 CACNA1E 777 __UNKNOWN__ __UNKNOWN__ 1 181772300 181772300 __UNKNOWN__ 3'UTR SNP C C T rs55950030 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:181772300C>T ENST00000526775.1 + 0 11251 NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit NA NA calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810) plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891) calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245) NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 GCTCTCTCACCCAGCCTACAA 0.517 NA C||| 898 0.179313 0.0129 0.2277 5008 , , NA 18170 0.246 NA 0.2873 False NA ,,, NA NA NA 2504 0.1902 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK096563 CCDS53443.1, CCDS55664.1, CCDS55665.1 1q25.3 2013-01-10 2007-02-16 ENSG00000198216 ENSG00000198216 777 Calcium channel subunits, Voltage-gated ion channels / Calcium channels, EF-hand domain containing 1392 protein-coding gene gene with protein product 601013 CACNL1A6 NA 8388125, 16382099 Standard NM_000721 NM_001205293 NA Approved Cav2.3, BII, CACH6 uc009wxt.3 Q15878 OTTHUMG00000037301 ENST00000526775.1:c.*4330C>T chr1.hg19:g.181772300C>T NA B1AM12|B1AM13|B1AM14|Q14580|Q14581 hg19 CCDS55665.1 0.02 6.769555 CACxCAG COVERED NOVEL CACNA1E-002 KNOWN non_canonical_U12|basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000090792.2 0 6.019321 KEEP 0 0 0 20 692 CC 0.999863 0.999863 0 + 10 60 370 0 0 24.693772 183 60 6655 251 ENST00000526775.1 0.051813 1 CACNA1E 777 __UNKNOWN__ __UNKNOWN__ 1 181772559 181772559 __UNKNOWN__ 3'UTR SNP T T C rs9943168 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:181772559T>C ENST00000526775.1 + 0 11510 NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit NA NA calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810) plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891) calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245) NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 CTAACCTTTGTAAGAAGGTGA 0.363 NA T||| 535 0.106829 0.0983 0.0548 5008 , , NA 22122 0.2698 NA 0.0348 False NA ,,, NA NA NA 2504 0.0613 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK096563 CCDS53443.1, CCDS55664.1, CCDS55665.1 1q25.3 2013-01-10 2007-02-16 ENSG00000198216 ENSG00000198216 777 Calcium channel subunits, Voltage-gated ion channels / Calcium channels, EF-hand domain containing 1392 protein-coding gene gene with protein product 601013 CACNL1A6 NA 8388125, 16382099 Standard NM_000721 NM_001205293 NA Approved Cav2.3, BII, CACH6 uc009wxt.3 Q15878 OTTHUMG00000037301 ENST00000526775.1:c.*4589T>C chr1.hg19:g.181772559T>C NA B1AM12|B1AM13|B1AM14|Q14580|Q14581 hg19 CCDS55665.1 0.02 8.974632 TTGxAAG COVERED NOVEL CACNA1E-002 KNOWN non_canonical_U12|basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000090792.2 0 5.113495 KEEP 0 0 0 17 505 TT 0.999366 0.999366 0 + 11 60 365 0 0 23.291639 203 60 7187 262 ENST00000526775.1 0.051402 1 CACNA1E 777 __UNKNOWN__ __UNKNOWN__ 1 181773464 181773464 __UNKNOWN__ 3'UTR SNP G G A rs150601935 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:181773464G>A ENST00000526775.1 + 0 12415 NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit NA NA calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810) plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891) calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245) NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 TGAGGTTATAGTACCAGCTGT 0.358 NA G||| 20 0.00399361 0.0 0.0 5008 , , NA 17270 0.0188 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK096563 CCDS53443.1, CCDS55664.1, CCDS55665.1 1q25.3 2013-01-10 2007-02-16 ENSG00000198216 ENSG00000198216 777 Calcium channel subunits, Voltage-gated ion channels / Calcium channels, EF-hand domain containing 1392 protein-coding gene gene with protein product 601013 CACNL1A6 NA 8388125, 16382099 Standard NM_000721 NM_001205293 NA Approved Cav2.3, BII, CACH6 uc009wxt.3 Q15878 OTTHUMG00000037301 ENST00000526775.1:c.*5494G>A chr1.hg19:g.181773464G>A NA B1AM12|B1AM13|B1AM14|Q14580|Q14581 hg19 CCDS55665.1 0.02 9.788833 ATAxTAC COVERED NOVEL CACNA1E-002 KNOWN non_canonical_U12|basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000090792.2 2 4.514783 KEEP 0 0 0 15 535 GG 0.99649 0.99649 0 + 9 60 315 0 0 18.378863 282 60 10574 345 ENST00000526775.1 0.030928 1 CACNA1E 777 __UNKNOWN__ __UNKNOWN__ 1 181775260 181775260 __UNKNOWN__ 3'UTR SNP G G A rs10910988 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:181775260G>A ENST00000526775.1 + 0 14211 NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit NA NA calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810) plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891) calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245) NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 GCTTTAAAGCGGCTCGAAGAC 0.418 NA G||| 492 0.0982428 0.0696 0.049 5008 , , NA 20580 0.2679 NA 0.0358 False NA ,,, NA NA NA 2504 0.0613 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK096563 CCDS53443.1, CCDS55664.1, CCDS55665.1 1q25.3 2013-01-10 2007-02-16 ENSG00000198216 ENSG00000198216 777 Calcium channel subunits, Voltage-gated ion channels / Calcium channels, EF-hand domain containing 1392 protein-coding gene gene with protein product 601013 CACNL1A6 NA 8388125, 16382099 Standard NM_000721 NM_001205293 NA Approved Cav2.3, BII, CACH6 uc009wxt.3 Q15878 OTTHUMG00000037301 ENST00000526775.1:c.*7290G>A chr1.hg19:g.181775260G>A NA B1AM12|B1AM13|B1AM14|Q14580|Q14581 hg19 CCDS55665.1 0.02 6.244462 AGCxGCT COVERED NOVEL CACNA1E-002 KNOWN non_canonical_U12|basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000090792.2 1 3.008928 KEEP 0 0 0 10 308 GG 0.992708 0.992708 0 + 9 60 335 0 0 21.960628 186 60 6253 229 ENST00000526775.1 0.046154 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 181924155 181924155 __UNKNOWN__ IGR SNP G G C rs1281290 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:181924155G>C NA NA RN7SKP229 (115246 upstream) : ZNF648 (99549 downstream) NA NA NA gcggttttgtggaatagaaaa 0.502 NA g||| 3503 0.699481 0.9402 0.6326 5008 , , NA 12093 0.6716 NA 0.503 False NA ,,, NA NA NA 2504 0.6524 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.181924155G>C NA hg19 0.02 -0.061405 TGTxGAA UNCOVERED NOVEL 0 1 2.70888 KEEP 3 0 0 9 326 GG 0 0 0 3 40 100 0 0 9.354608 4 55 153 25 0.428571 0.043787 LAMC2 3918 __UNKNOWN__ __UNKNOWN__ 1 183206398 183206398 __UNKNOWN__ Intron SNP A A G rs76480542 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:183206398A>G ENST00000264144.4 + 18 2666 LAMC2_ENST00000493293.1_Intron NM_005562.2 NP_005553.2 Q13753 LAMC2_HUMAN laminin, gamma 2 NA NA cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581) cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471) heparin binding (GO:0008201) breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 GGCTGTTGCTATTTTCAAACA 0.458 NA A||| 60 0.0119808 0.0 0.0 5008 , , NA 18636 0.0585 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Z15008 CCDS1352.1, CCDS44285.1 1q25-q31 2013-03-01 2002-08-29 ENSG00000058085 ENSG00000058085 3918 Laminins 6493 protein-coding gene gene with protein product 150292 laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa)) EBR2, LAMB2T, LAMNB2, EBR2A NA 1383240 Standard NM_005562 NM_005562 NA Approved nicein-100kDa, kalinin-105kDa, BM600-100kDa uc001gqa.2 Q13753 OTTHUMG00000035520 ENST00000264144.4:c.2602-89A>G chr1.hg19:g.183206398A>G NA Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8 hg19 CCDS1352.1 0.02 7.378651 GCTxTTT COVERED NOVEL LAMC2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000086258.1 2 6.918206 KEEP 0 0 0 23 680 AA 0.999892 0.999892 0 + 7 60 268 0 0 17.722873 150 60 5045 187 ENST00000264144.4 0.044586 1 SMG7 9887 __UNKNOWN__ __UNKNOWN__ 1 183516440 183516440 __UNKNOWN__ Intron SNP G G A rs2702182 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:183516440G>A ENST00000347615.2 + 17 2861 SMG7_ENST00000508461.1_Intron|SMG7_ENST00000456731.2_Intron|SMG7_ENST00000507469.1_Intron|SMG7_ENST00000515829.2_Intron|SMG7_ENST00000367537.3_Intron NM_173156.2 NP_775179.1 Q92540 SMG7_HUMAN SMG7 nonsense mediated mRNA decay factor NA NA gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070) cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634) protein phosphatase 2A binding (GO:0051721) breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 CTGCTTCTCTGAGATACTGTA 0.448 NA G||| 1648 0.329073 0.031 0.3703 5008 , , NA 20811 0.5238 NA 0.3738 False NA ,,, NA NA NA 2504 0.456 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D87437 CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1 1q25 2013-07-02 2013-07-02 2006-02-16 ENSG00000116698 ENSG00000116698 9887 16792 protein-coding gene gene with protein product EST1 telomerase component homolog C (S. cerevisiae) 610964 chromosome 1 open reading frame 16, smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans) C1orf16 NA 14636577, 15721257 Standard NM_014837 NM_173156 NA Approved KIAA0250, EST1C, SGA56M, SMG-7 uc001gqf.3 Q92540 OTTHUMG00000035221 ENST00000347615.2:c.2742+968G>A chr1.hg19:g.183516440G>A NA B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2 hg19 CCDS1355.1 0.02 -0.359709 TCTxAGA COVERED NOVEL SMG7-002 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000085432.1 0 2.708723 KEEP 0 0 0 9 309 GG 0.99254 0.882244 0 + 3 60 112 0 0 7.971226 38 60 1438 57 ENST00000347615.2 0.073171 0.888875 SMG7 9887 __UNKNOWN__ __UNKNOWN__ 1 183521283 183521283 __UNKNOWN__ 3'UTR SNP C C T rs699245 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:183521283C>T ENST00000347615.2 + 0 3750 SMG7_ENST00000508461.1_3'UTR|SMG7_ENST00000507469.1_Intron|SMG7_ENST00000515829.2_3'UTR|SMG7_ENST00000367537.3_3'UTR NM_173156.2 NP_775179.1 Q92540 SMG7_HUMAN SMG7 nonsense mediated mRNA decay factor NA NA gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070) cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634) protein phosphatase 2A binding (GO:0051721) breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 CCCCGGGGCCCTCCGGAGGGA 0.542 NA T||| 2793 0.557708 0.5416 0.611 5008 , , NA 18288 0.6558 NA 0.4662 False NA ,,, NA NA NA 2504 0.5348 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D87437 CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1 1q25 2013-07-02 2013-07-02 2006-02-16 ENSG00000116698 ENSG00000116698 9887 16792 protein-coding gene gene with protein product EST1 telomerase component homolog C (S. cerevisiae) 610964 chromosome 1 open reading frame 16, smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans) C1orf16 NA 14636577, 15721257 Standard NM_014837 NM_173156 NA Approved KIAA0250, EST1C, SGA56M, SMG-7 uc001gqf.3 Q92540 OTTHUMG00000035221 ENST00000347615.2:c.*217C>T chr1.hg19:g.183521283C>T NA B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2 hg19 CCDS1355.1 0.02 9.026454 GCCxTCC COVERED NOVEL SMG7-002 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000085432.1 0 18.058911 KEEP 0 0 0 60 2160 CC 1 1 0 + 14 60 501 0 0 34.514632 194 60 7128 336 ENST00000347615.2 0.067308 1 NCF2 4688 __UNKNOWN__ __UNKNOWN__ 1 183534935 183534935 __UNKNOWN__ Intron SNP C C T rs2296164 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:183534935C>T ENST00000367535.3 - 10 1176 NCF2_ENST00000418089.1_Intron|NCF2_ENST00000413720.1_Intron|NCF2_ENST00000367536.1_Intron NM_000433.3 NP_000424.2 P19878 NCF2_HUMAN neutrophil cytosolic factor 2 NA NA aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cellular response to hormone stimulus (GO:0032870)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron apoptotic process (GO:0043525)|respiratory burst (GO:0045730)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hyperoxia (GO:0055093)|response to laminar fluid shear stress (GO:0034616)|response to lipopolysaccharide (GO:0032496)|response to progesterone (GO:0032570)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801) acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|NADPH oxidase complex (GO:0043020)|nucleolus (GO:0005730)|phagolysosome (GO:0032010) electron carrier activity (GO:0009055)|protein C-terminus binding (GO:0008022) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 Dextromethorphan(DB00514) CAGGGAGCGACGGTCAGAACC 0.562 NA C||| 2392 0.477636 0.3245 0.5965 5008 , , NA 18638 0.6081 NA 0.4702 False NA ,,, NA NA NA 2504 0.4734 NA NA NA NA 0 C ,,, 1560,2846 488.7+/-361.3 286,988,929 46 47 47 ,,, -8.9 0 1 dbSNP_100 47 4021,4579 556.6+/-386.9 956,2109,1235 no intron,intron,intron,intron NCF2 NM_000433.3,NM_001127651.2,NM_001190789.1,NM_001190794.1 ,,, 1242,3097,2164 TT,TC,CC 46.7558,35.4063,42.911 ,,, ,,, 183534935 5581,7425 2203 4300 6503 SO:0001627 intron_variant BC001606 CCDS1356.1, CCDS53446.1, CCDS53447.1 1q25 2014-09-17 2008-07-31 ENSG00000116701 ENSG00000116701 4688 Tetratricopeptide (TTC) repeat domain containing 7661 protein-coding gene gene with protein product NADPH oxidase activator 2, chronic granulomatous disease, autosomal 2 608515 neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2) NA Standard NM_000433 NM_000433 NA Approved p67phox, NOXA2 uc001gqk.4 P19878 OTTHUMG00000035329 ENST00000367535.3:c.925-21G>A chr1.hg19:g.183534935C>T NA B2R6Q1|B4DKQ7|B4DQA7|E9PHJ2|E9PHX3|Q2PP06|Q8NFC7|Q9BV51 hg19 CCDS1356.1 0.02 2.026525 CGAxGGT COVERED NOVEL NCF2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000085483.1 0 6.320739 KEEP 0 0 0 21 752 CC 0.999869 0.992796 0 - 6 60 219 0 0 16.116726 58 60 2065 117 ENST00000367535.3 0.09375 0.992926 NCF2 4688 __UNKNOWN__ __UNKNOWN__ 1 183542387 183542387 __UNKNOWN__ Missense_Mutation SNP T T C rs2274064 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:183542387T>C ENST00000367535.3 - 5 793 c.542A>G c.(541-543)aAg>aGg p.K181R NCF2_ENST00000418089.1_Intron|NCF2_ENST00000413720.1_Missense_Mutation_p.K136R|NCF2_ENST00000367536.1_Missense_Mutation_p.K181R NM_000433.3 NP_000424.2 P19878 NCF2_HUMAN neutrophil cytosolic factor 2 181 NA K -> R (in dbSNP:rs2274064). {ECO:0000269|PubMed:10498624, ECO:0000269|PubMed:10598813, ECO:0000269|PubMed:12207919, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.4, ECO:0000269|Ref.8}. aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cellular response to hormone stimulus (GO:0032870)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron apoptotic process (GO:0043525)|respiratory burst (GO:0045730)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hyperoxia (GO:0055093)|response to laminar fluid shear stress (GO:0034616)|response to lipopolysaccharide (GO:0032496)|response to progesterone (GO:0032570)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801) acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|NADPH oxidase complex (GO:0043020)|nucleolus (GO:0005730)|phagolysosome (GO:0032010) electron carrier activity (GO:0009055)|protein C-terminus binding (GO:0008022) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 Dextromethorphan(DB00514) TCGAAACAGCTTGCCCACAGG 0.512 NA C||| 2462 0.491613 0.3306 0.598 5008 , , NA 21080 0.621 NA 0.4672 False NA ,,, NA NA NA 2504 0.5256 NA NA NA NA 0 C ARG/LYS,ARG/LYS,,ARG/LYS 1581,2825 667.0+/-401.8 294,993,916 203 185 191 542,542,,407 1.3 1 1 dbSNP_100 191 4012,4588 597.2+/-393.7 952,2108,1240 yes missense,missense,intron,missense NCF2 NM_000433.3,NM_001127651.2,NM_001190789.1,NM_001190794.1 26,26,,26 1246,3101,2156 CC,CT,TT 46.6512,35.8829,43.0032 benign,benign,,benign 181/527,181/527,,136/482 183542387 5593,7413 2203 4300 6503 SO:0001583 missense BC001606 CCDS1356.1, CCDS53446.1, CCDS53447.1 1q25 2014-09-17 2008-07-31 ENSG00000116701 ENSG00000116701 4688 Tetratricopeptide (TTC) repeat domain containing 7661 protein-coding gene gene with protein product NADPH oxidase activator 2, chronic granulomatous disease, autosomal 2 608515 neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2) NA Standard NM_000433 NM_000433 NA Approved p67phox, NOXA2 uc001gqk.4 P19878 OTTHUMG00000035329 ENST00000367535.3:c.542A>G chr1.hg19:g.183542387T>C ENSP00000356505:p.Lys181Arg NA B2R6Q1|B4DKQ7|B4DQA7|E9PHJ2|E9PHX3|Q2PP06|Q8NFC7|Q9BV51 hg19 CCDS1356.1 0.02 6.484206 AGCxTGC COVERED 1097 0.5022893772893773 176 0.35772357723577236 198 0.5469613259668509 369 0.6451048951048951 354 0.46701846965699206 C 5.163 0.215651 0.09810 0.358829 0.466512 ENSG00000116701 ENST00000367536;ENST00000392014;ENST00000413720;ENST00000367535 T;T;T 0.65732 -0.17;-0.1;-0.17 5.08 1.27 0.21489 . 0.555420 0.21403 N 0.075117 T 0.00012 0.0000 N 0.04043 -0.29 0.09310 P 0.999999999854424 B;B 0.02656 0.0;0.0 B;B 0.04013 0.001;0.0 T 0.44467 -0.9326 9 0.06891 T 0.86 -10.3885 9.9264 0.41494 0.0:0.53:0.0:0.47 rs2274064;rs12691462;rs17434977;rs17844914;rs17857636;rs34730753;rs58356110;rs2274064 136;181 E9PHX3;P19878 .;NCF2_HUMAN R 181;209;136;181 ENSP00000356506:K181R;ENSP00000399294:K136R;ENSP00000356505:K181R ENSP00000356505:K181R K - 2 0 NCF2 181809010 0.992000 0.36948 0.998000 0.56505 0.968000 0.65278 0.583000 0.23849 0.100000 0.17581 -0.962000 0.02626 AAG NOVEL NCF2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000085483.1 0 7.822064 KEEP 0 0 0 26 805 TT 0.999957 0.999957 0 - 7 60 259 0 0 16.393623 173 60 6424 243 ENST00000367535.3 0.038889 1 APOBEC4 403314 __UNKNOWN__ __UNKNOWN__ 1 183615745 183615745 __UNKNOWN__ 3'UTR SNP T T C rs150635683 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:183615745T>C ENST00000308641.4 - 0 2443 RGL1_ENST00000536277.1_Intron|RGL1_ENST00000304685.4_Intron NM_203454.2 NP_982279.1 Q8WW27 ABEC4_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative) NA NA mRNA processing (GO:0006397) hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270) NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1) 21 TTTGAAGATTTTAAGAGAAGG 0.388 NA T||| 22 0.00439297 0.0 0.0 5008 , , NA 17613 0.0218 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC021711 CCDS1358.1 1q25.3 2008-02-05 2005-10-27 2005-10-27 ENSG00000173627 ENSG00000173627 403314 Apolipoprotein B mRNA editing enzymes 32152 protein-coding gene gene with protein product 609908 chromosome 1 open reading frame 169 C1orf169 NA 16082223 Standard NM_203454 NM_203454 NA Approved MGC26594, FLJ25691, RP1-127C7.4 uc001gqn.3 Q8WW27 OTTHUMG00000035459 ENST00000308641.4:c.*1068A>G chr1.hg19:g.183615745T>C NA Q8N7F6 hg19 CCDS1358.1 0.02 4.364659 ATTxTAA COVERED NOVEL APOBEC4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000086126.1 0 8.72572 KEEP 0 0 0 29 899 TT 0.999997 0.999997 0 - 5 60 184 0 0 11.455175 133 60 4786 192 ENST00000308641.4 0.036232 1 TSEN15 116461 __UNKNOWN__ __UNKNOWN__ 1 184023529 184023529 __UNKNOWN__ Missense_Mutation SNP A A C rs1046934 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:184023529A>C ENST00000361641.1 + 2 256 c.177A>C c.(175-177)caA>caC p.Q59H TSEN15_ENST00000423085.2_Missense_Mutation_p.Q59H|TSEN15_ENST00000533373.1_Missense_Mutation_p.Q59H NM_052965.2 NP_443197.1 Q8WW01 SEN15_HUMAN TSEN15 tRNA splicing endonuclease subunit 59 NA Q -> H (in dbSNP:rs1046934). mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388) nucleus (GO:0005634) tRNA-intron endonuclease activity (GO:0000213) breast(1)|kidney(3)|large_intestine(2)|lung(2) 8 ATGCCACCCAAGTTTATGTAG 0.323 NA A||| 1517 0.302915 0.1233 0.3026 5008 , , NA 16302 0.4504 NA 0.327 False NA ,,, NA NA NA 2504 0.3691 NA NA NA NA 0 A HIS/GLN,HIS/GLN 717,3689 297.0+/-284.5 55,607,1541 177 173 174 177,177 1.6 1 1 dbSNP_86 174 2989,5611 462.2+/-365.6 491,2007,1802 yes missense,missense TSEN15 NM_001127394.2,NM_052965.2 24,24 546,2614,3343 CC,CA,AA http://www.ncbi.nlm.nih.gov/pubmed?term 34.7558,16.2733,28.4945 probably-damaging,probably-damaging 59/130,59/172 184023529 3706,9300 2203 4300 6503 SO:0001583 missense AF288394 CCDS1361.1, CCDS44286.1, CCDS72993.1 1q25 2013-08-06 2013-08-06 2008-06-12 ENSG00000198860 ENSG00000198860 116461 tRNA splicing endonuclease subunits 16791 protein-coding gene gene with protein product 608756 chromosome 1 open reading frame 19, tRNA splicing endonuclease 15 homolog (S. cerevisiae) C1orf19 NA 11318611, 17166513 Standard XM_006711148 NA Approved uc001gqt.4 Q8WW01 OTTHUMG00000035461 ENST00000361641.1:c.177A>C chr1.hg19:g.184023529A>C ENSP00000355299:p.Gln59His NA B4DKP0|Q9BZQ5 hg19 CCDS1361.1 0.02 16.405326 CCAxGTT COVERED 703 0.3218864468864469 76 0.15447154471544716 112 0.30939226519337015 263 0.4597902097902098 252 0.3324538258575198 A 17.48 3.399957 0.62177 0.162733 0.347558 ENSG00000198860 ENST00000361641;ENST00000533373;ENST00000423085 T;T;T 0.49139 0.79;0.79;0.79 5.27 1.56 0.23342 tRNA-intron endonuclease, Sen15 domain (1); 0.053462 0.85682 N 0.000000 T 0.00012 0.0000 M 0.61703 1.905 0.21719 P 0.999571061 B;B 0.13145 0.007;0.002 B;B 0.18263 0.021;0.009 T 0.36016 -0.9765 9 0.72032 D 0.01 -14.3213 5.5494 0.17081 0.5737:0.3382:0.0881:0.0 rs1046934;rs3186920;rs3736959;rs17415534;rs52791391;rs58806237;rs1046934 59;59 B4DKP0;Q8WW01 .;SEN15_HUMAN H 59 ENSP00000355299:Q59H;ENSP00000436996:Q59H;ENSP00000402002:Q59H ENSP00000355299:Q59H Q + 3 2 TSEN15 182290152 1.000000 0.71417 0.998000 0.56505 0.983000 0.72400 1.476000 0.35420 0.094000 0.17404 0.528000 0.53228 CAA NOVEL TSEN15-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000086132.1 5 21.737638 KEEP 0 2 74 98 3200 AA 1 1 0 + 14 60 486 0 0 28.631796 430 60 15546 687 ENST00000361641.1 0.031532 1 EDEM3 80267 __UNKNOWN__ __UNKNOWN__ 1 184660205 184660205 __UNKNOWN__ 3'UTR SNP T T A rs1046239 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:184660205T>A ENST00000318130.8 - 0 6057 NM_025191.3 NP_079467.3 Q9BZQ6 EDEM3_HUMAN ER degradation enhancer, mannosidase alpha-like 3 NA NA cellular protein metabolic process (GO:0044267)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986) endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789) calcium ion binding (GO:0005509)|glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571) breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 ACAATTTTTCTTTTTACTAAT 0.269 NA A||| 3059 0.610823 0.7065 0.4899 5008 , , NA 14901 0.7004 NA 0.4732 False NA ,,, NA NA NA 2504 0.6166 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF288393 CCDS1363.2 1q25 2008-02-05 2006-03-31 2006-03-31 ENSG00000116406 ENSG00000116406 80267 16787 protein-coding gene gene with protein product 610214 chromosome 1 open reading frame 22 C1orf22 NA 15537790, 15579471 Standard NM_025191 NM_025191 NA Approved uc010pok.2 Q9BZQ6 OTTHUMG00000035387 ENST00000318130.8:c.*2992A>T chr1.hg19:g.184660205T>A NA B2RCH6|B7ZLZ2|Q0VGM5|Q5TEZ0|Q9HCW1|Q9UFV7 hg19 CCDS1363.2 0.02 9.435583 TTCxTTT COVERED NOVEL EDEM3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000085785.3 1 21.802672 KEEP 0 1 36 85 2766 TT 1 1 0 - 14 60 536 0 0 37.082545 227 60 8362 401 ENST00000318130.8 0.058091 1 EDEM3 80267 __UNKNOWN__ __UNKNOWN__ 1 184661642 184661642 __UNKNOWN__ 3'UTR SNP G G A rs6663178 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:184661642G>A ENST00000318130.8 - 0 4620 NM_025191.3 NP_079467.3 Q9BZQ6 EDEM3_HUMAN ER degradation enhancer, mannosidase alpha-like 3 NA NA cellular protein metabolic process (GO:0044267)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986) endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789) calcium ion binding (GO:0005509)|glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571) breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 ATACATAACTGCAATACAGCA 0.348 NA A||| 3220 0.642971 0.8185 0.5058 5008 , , NA 17306 0.7004 NA 0.4751 False NA ,,, NA NA NA 2504 0.6166 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF288393 CCDS1363.2 1q25 2008-02-05 2006-03-31 2006-03-31 ENSG00000116406 ENSG00000116406 80267 16787 protein-coding gene gene with protein product 610214 chromosome 1 open reading frame 22 C1orf22 NA 15537790, 15579471 Standard NM_025191 NM_025191 NA Approved uc010pok.2 Q9BZQ6 OTTHUMG00000035387 ENST00000318130.8:c.*1555C>T chr1.hg19:g.184661642G>A NA B2RCH6|B7ZLZ2|Q0VGM5|Q5TEZ0|Q9HCW1|Q9UFV7 hg19 CCDS1363.2 0.02 10.448354 ACTxCAA COVERED NOVEL EDEM3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000085785.3 4 13.61466 KEEP 0 2 65 68 2430 GG 1 1 0 - 13 60 472 0 0 30.485199 271 60 10340 430 ENST00000318130.8 0.045775 1 EDEM3 80267 __UNKNOWN__ __UNKNOWN__ 1 184662181 184662181 __UNKNOWN__ 3'UTR SNP C C T rs1061508 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:184662181C>T ENST00000318130.8 - 0 4081 NM_025191.3 NP_079467.3 Q9BZQ6 EDEM3_HUMAN ER degradation enhancer, mannosidase alpha-like 3 NA NA cellular protein metabolic process (GO:0044267)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986) endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789) calcium ion binding (GO:0005509)|glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571) breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 AACCACAGTTCTATCATGGCT 0.383 NA T||| 2177 0.434704 0.1936 0.3977 5008 , , NA 18873 0.63 NA 0.4344 False NA ,,, NA NA NA 2504 0.5859 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF288393 CCDS1363.2 1q25 2008-02-05 2006-03-31 2006-03-31 ENSG00000116406 ENSG00000116406 80267 16787 protein-coding gene gene with protein product 610214 chromosome 1 open reading frame 22 C1orf22 NA 15537790, 15579471 Standard NM_025191 NM_025191 NA Approved uc010pok.2 Q9BZQ6 OTTHUMG00000035387 ENST00000318130.8:c.*1016G>A chr1.hg19:g.184662181C>T NA B2RCH6|B7ZLZ2|Q0VGM5|Q5TEZ0|Q9HCW1|Q9UFV7 hg19 CCDS1363.2 0.02 12.77947 GTTxTAT COVERED NOVEL EDEM3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000085785.3 6 9.191869 KEEP 0 2 49 48 1648 CC 1 1 0 - 13 60 458 0 0 28.735993 289 60 10875 396 ENST00000318130.8 0.043046 1 EDEM3 80267 __UNKNOWN__ __UNKNOWN__ 1 184662659 184662659 __UNKNOWN__ 3'UTR SNP A A G rs6690603 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:184662659A>G ENST00000318130.8 - 0 3603 NM_025191.3 NP_079467.3 Q9BZQ6 EDEM3_HUMAN ER degradation enhancer, mannosidase alpha-like 3 NA NA cellular protein metabolic process (GO:0044267)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986) endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789) calcium ion binding (GO:0005509)|glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571) breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 GAAAGCAATGAGCAAAGACTG 0.348 NA A||| 690 0.13778 0.3873 0.0692 5008 , , NA 22143 0.0694 NA 0.0388 False NA ,,, NA NA NA 2504 0.0215 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF288393 CCDS1363.2 1q25 2008-02-05 2006-03-31 2006-03-31 ENSG00000116406 ENSG00000116406 80267 16787 protein-coding gene gene with protein product 610214 chromosome 1 open reading frame 22 C1orf22 NA 15537790, 15579471 Standard NM_025191 NM_025191 NA Approved uc010pok.2 Q9BZQ6 OTTHUMG00000035387 ENST00000318130.8:c.*538T>C chr1.hg19:g.184662659A>G NA B2RCH6|B7ZLZ2|Q0VGM5|Q5TEZ0|Q9HCW1|Q9UFV7 hg19 CCDS1363.2 0.02 6.79344 ATGxGCA COVERED NOVEL EDEM3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000085785.3 6 8.424892 KEEP 0 0 0 28 880 AA 0.999997 0.999997 0 - 8 60 294 0 0 19.05131 170 60 6245 244 ENST00000318130.8 0.044944 1 EDEM3 80267 __UNKNOWN__ __UNKNOWN__ 1 184672179 184672179 __UNKNOWN__ Intron SNP A A G rs7513276 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:184672179A>G ENST00000318130.8 - 19 2470 EDEM3_ENST00000466392.1_Intron|EDEM3_ENST00000367512.3_Intron NM_025191.3 NP_079467.3 Q9BZQ6 EDEM3_HUMAN ER degradation enhancer, mannosidase alpha-like 3 NA NA cellular protein metabolic process (GO:0044267)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986) endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789) calcium ion binding (GO:0005509)|glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571) breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 AGCCATTAAAAAGATCTATCT 0.348 NA A||| 690 0.13778 0.3873 0.0692 5008 , , NA 17408 0.0694 NA 0.0388 False NA ,,, NA NA NA 2504 0.0215 NA NA NA NA 0 A 1291,3079 190,911,1084 12 11 11 1.6 0.1 1 dbSNP_116 11 220,8306 5,210,4048 no intron EDEM3 NM_025191.3 195,1121,5132 GG,GA,AA 2.5803,29.5423,11.7168 184672179 1511,11385 2185 4263 6448 SO:0001627 intron_variant AF288393 CCDS1363.2 1q25 2008-02-05 2006-03-31 2006-03-31 ENSG00000116406 ENSG00000116406 80267 16787 protein-coding gene gene with protein product 610214 chromosome 1 open reading frame 22 C1orf22 NA 15537790, 15579471 Standard NM_025191 NM_025191 NA Approved uc010pok.2 Q9BZQ6 OTTHUMG00000035387 ENST00000318130.8:c.2204-49T>C chr1.hg19:g.184672179A>G NA B2RCH6|B7ZLZ2|Q0VGM5|Q5TEZ0|Q9HCW1|Q9UFV7 hg19 CCDS1363.2 0.02 4.8099 AAAxAGA COVERED NOVEL EDEM3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000085785.3 0 5.715323 KEEP 0 0 0 19 547 AA 0.99986 0.999852 0 - 5 60 194 0 0 12.954261 105 60 3743 141 ENST00000318130.8 0.045455 0.999993 EDEM3 80267 __UNKNOWN__ __UNKNOWN__ 1 184677464 184677464 __UNKNOWN__ Silent SNP G G A rs3736757 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:184677464G>A ENST00000318130.8 - 17 2126 c.1860C>T c.(1858-1860)atC>atT p.I620I EDEM3_ENST00000466392.1_Intron|EDEM3_ENST00000367512.3_Silent_p.I577I NM_025191.3 NP_079467.3 Q9BZQ6 EDEM3_HUMAN ER degradation enhancer, mannosidase alpha-like 3 620 NA cellular protein metabolic process (GO:0044267)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986) endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789) calcium ion binding (GO:0005509)|glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571) breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 CTTCAGCGTCGATTGAACTAG 0.388 NA A||| 3265 0.651957 0.8525 0.5101 5008 , , NA 16609 0.7004 NA 0.4761 False NA ,,, NA NA NA 2504 0.6125 NA NA NA NA 0 A 3485,921 351.3+/-311.2 1391,703,109 71 66 68 1860 0.6 1 1 dbSNP_107 68 4091,4507 592.2+/-393.0 1001,2089,1209 no coding-synonymous EDEM3 NM_025191.3 2392,2792,1318 AA,AG,GG 47.5808,20.9033,41.741 620/933 184677464 7576,5428 2203 4299 6502 SO:0001819 synonymous_variant AF288393 CCDS1363.2 1q25 2008-02-05 2006-03-31 2006-03-31 ENSG00000116406 ENSG00000116406 80267 16787 protein-coding gene gene with protein product 610214 chromosome 1 open reading frame 22 C1orf22 NA 15537790, 15579471 Standard NM_025191 NM_025191 NA Approved uc010pok.2 Q9BZQ6 OTTHUMG00000035387 ENST00000318130.8:c.1860C>T chr1.hg19:g.184677464G>A NA B2RCH6|B7ZLZ2|Q0VGM5|Q5TEZ0|Q9HCW1|Q9UFV7 hg19 CCDS1363.2 0.02 9.087535 GTCxATT COVERED NOVEL EDEM3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000085785.3 0 9.598148 KEEP 0 2 54 51 1724 GG 1 1 0 - 10 60 380 0 0 25.510651 191 60 6954 318 ENST00000318130.8 0.049751 1 EDEM3 80267 __UNKNOWN__ __UNKNOWN__ 1 184695571 184695571 __UNKNOWN__ Intron SNP C C T rs10752941 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:184695571C>T ENST00000318130.8 - 7 879 EDEM3_ENST00000367512.3_Intron NM_025191.3 NP_079467.3 Q9BZQ6 EDEM3_HUMAN ER degradation enhancer, mannosidase alpha-like 3 NA NA cellular protein metabolic process (GO:0044267)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986) endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789) calcium ion binding (GO:0005509)|glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571) breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 AGACAATGACCTTCTGATAAG 0.303 NA T||| 3248 0.648562 0.8381 0.5086 5008 , , NA 18437 0.7004 NA 0.4751 False NA ,,, NA NA NA 2504 0.6166 NA NA NA NA 0 T 3429,975 321.3+/-297.0 1359,711,132 33 35 35 2.7 0 1 dbSNP_120 35 4082,4516 572.4+/-389.7 996,2090,1213 no intron EDEM3 NM_025191.3 2355,2801,1345 TT,TC,CC 47.4762,22.139,42.232 184695571 7511,5491 2202 4299 6501 SO:0001627 intron_variant AF288393 CCDS1363.2 1q25 2008-02-05 2006-03-31 2006-03-31 ENSG00000116406 ENSG00000116406 80267 16787 protein-coding gene gene with protein product 610214 chromosome 1 open reading frame 22 C1orf22 NA 15537790, 15579471 Standard NM_025191 NM_025191 NA Approved uc010pok.2 Q9BZQ6 OTTHUMG00000035387 ENST00000318130.8:c.613-48G>A chr1.hg19:g.184695571C>T NA B2RCH6|B7ZLZ2|Q0VGM5|Q5TEZ0|Q9HCW1|Q9UFV7 hg19 CCDS1363.2 0.02 3.873547 GACxTTC COVERED NOVEL EDEM3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000085785.3 2 3.912851 KEEP 0 0 0 13 468 CC 0.994391 0.994368 0 - 6 60 206 0 0 13.531614 97 60 3642 116 ENST00000318130.8 0.058252 0.999978 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 184760001 184760001 __UNKNOWN__ IGR SNP T T C rs570441 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:184760001T>C NA NA EDEM3 (35954 upstream) : FAM129A (162 downstream) NA NA NA CATTAAGTGGTTTCCCTGCAG 0.403 NA C||| 2868 0.572684 0.7315 0.4582 5008 , , NA 20278 0.6508 NA 0.4245 False NA ,,, NA NA NA 2504 0.5112 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.184760001T>C NA hg19 0.02 15.683658 TGGxTTC COVERED NOVEL 0 2 3.276423 KEEP 0 2 66 34 1001 TT 0.999999 0.999999 0 10 60 382 0 0 23.184466 346 60 11966 427 0.02809 1 FAM129A 116496 __UNKNOWN__ __UNKNOWN__ 1 184763596 184763596 __UNKNOWN__ 3'UTR SNP C C T rs14023 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:184763596C>T ENST00000367511.3 - 0 3495 FAM129A_ENST00000487074.1_5'UTR NM_052966.2 NP_443198.1 Q9BZQ8 NIBAN_HUMAN family with sequence similarity 129, member A NA NA negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886) autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 45 ACAGCCAGCACGGGTGACTGT 0.507 NA C||| 1859 0.371206 0.1876 0.3646 5008 , , NA 18235 0.5635 NA 0.3469 False NA ,,, NA NA NA 2504 0.4509 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF288391 CCDS1364.1 1q25 2008-10-08 2006-11-23 2006-11-23 ENSG00000135842 ENSG00000135842 116496 16784 protein-coding gene gene with protein product cell growth inhibiting protein 39 chromosome 1 open reading frame 24 C1orf24 NA 15085203, 16444351 Standard NM_052966 NA Approved NIBAN, GIG39 uc001gra.4 Q9BZQ8 OTTHUMG00000035388 ENST00000367511.3:c.*515G>A chr1.hg19:g.184763596C>T NA Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9 hg19 CCDS1364.1 0.02 3.995567 GCAxGGG COVERED NOVEL FAM129A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000085786.1 1 10.534031 KEEP 0 0 0 35 1234 CC 0.999999 0.999999 0 - 9 60 314 0 0 21.028237 137 60 4813 230 ENST00000367511.3 0.061644 1 FAM129A 116496 __UNKNOWN__ __UNKNOWN__ 1 184777177 184777177 __UNKNOWN__ Intron SNP C C A rs543912 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:184777177C>A ENST00000367511.3 - 10 1529 FAM129A_ENST00000487074.1_Intron NM_052966.2 NP_443198.1 Q9BZQ8 NIBAN_HUMAN family with sequence similarity 129, member A NA NA negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886) autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 45 TCTTTACCCTCATCCACCACG 0.547 NA C||| 1087 0.217053 0.0136 0.2522 5008 , , NA 16613 0.4058 NA 0.166 False NA ,,, NA NA NA 2504 0.3252 NA NA NA NA 0 C 193,4213 121.3+/-158.8 4,185,2014 101 108 106 2.2 0 1 dbSNP_83 106 1624,6976 301.2+/-305.3 161,1302,2837 no intron FAM129A NM_052966.2 165,1487,4851 AA,AC,CC 18.8837,4.3804,13.9705 184777177 1817,11189 2203 4300 6503 SO:0001627 intron_variant AF288391 CCDS1364.1 1q25 2008-10-08 2006-11-23 2006-11-23 ENSG00000135842 ENSG00000135842 116496 16784 protein-coding gene gene with protein product cell growth inhibiting protein 39 chromosome 1 open reading frame 24 C1orf24 NA 15085203, 16444351 Standard NM_052966 NA Approved NIBAN, GIG39 uc001gra.4 Q9BZQ8 OTTHUMG00000035388 ENST00000367511.3:c.1335+30G>T chr1.hg19:g.184777177C>A NA Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9 hg19 CCDS1364.1 0.02 18.77848 CCTxATC COVERED NOVEL FAM129A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000085786.1 2 24.377855 KEEP 0 0 0 81 2777 CC 1 1 0 - 14 60 477 0 0 26.242389 523 60 19389 771 ENST00000367511.3 0.026071 1 TRMT1L 81627 __UNKNOWN__ __UNKNOWN__ 1 185087634 185087634 __UNKNOWN__ 3'UTR SNP A A T rs12030554 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:185087634A>T ENST00000367506.5 - 0 3987 TRMT1L_ENST00000367504.3_3'UTR NM_001202423.1|NM_030934.4 NP_001189352.1|NP_112196.3 Q7Z2T5 TRM1L_HUMAN tRNA methyltransferase 1 homolog (S. cerevisiae)-like NA NA adult locomotory behavior (GO:0008344) metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049) NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 21 CTGAGTGCTAAAATAGTTTGC 0.279 NA T||| 2403 0.479832 0.7761 0.4467 5008 , , NA 15266 0.3988 NA 0.329 False NA ,,, NA NA NA 2504 0.3415 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF288399 CCDS1366.1 1q25.2 2012-06-29 2012-06-29 2011-01-24 ENSG00000121486 ENSG00000121486 81627 16782 protein-coding gene gene with protein product TRM1-like 611673 chromosome 1 open reading frame 25, TRM1 tRNA methyltransferase 1-like C1orf25 NA 11318611, 17198746 Standard NM_030934 NM_030934 NA Approved uc001grf.4 Q7Z2T5 OTTHUMG00000035389 ENST00000367506.5:c.*1517T>A chr1.hg19:g.185087634A>T NA Q5TEN0|Q6ZMX0|Q8IWH5|Q8NC68|Q9BZQ1 hg19 CCDS1366.1 0.02 5.897157 CTAxAAT COVERED NOVEL TRMT1L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000085787.1 3 7.219712 KEEP 0 0 0 24 720 AA 0.999909 0.999909 0 - 8 60 284 0 0 18.519545 148 60 5276 200 ENST00000367506.5 0.051282 1 SWT1 54823 __UNKNOWN__ __UNKNOWN__ 1 185143721 185143721 __UNKNOWN__ Missense_Mutation SNP A A G rs10489579 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:185143721A>G ENST00000367500.4 + 5 607 c.442A>G c.(442-444)Att>Gtt p.I148V SWT1_ENST00000367501.3_Missense_Mutation_p.I148V NM_017673.6 NP_060143.4 Q5T5J6 SWT1_HUMAN SWT1 RNA endoribonuclease homolog (S. cerevisiae) 148 NA I -> V (in dbSNP:rs10489579). {ECO:0000269|PubMed:15489334}. breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1) 41 TGACCATGGAATTAAAAGCCT 0.368 NA A||| 2177 0.434704 0.6982 0.3487 5008 , , NA 19153 0.2718 NA 0.3439 False NA ,,, NA NA NA 2504 0.4008 NA NA NA NA 0 A VAL/ILE,VAL/ILE 2802,1604 659.4+/-400.6 907,988,308 53 53 53 442,442 0.9 0 1 dbSNP_119 53 3071,5529 467.9+/-367.2 556,1959,1785 yes missense,missense SWT1 NM_001105518.1,NM_017673.6 29,29 1463,2947,2093 GG,GA,AA 35.7093,36.4049,45.1561 benign,benign 148/901,148/901 185143721 5873,7133 2203 4300 6503 SO:0001583 missense AF288392 CCDS1367.1 1q25 2013-08-29 2011-01-24 2011-01-24 ENSG00000116668 ENSG00000116668 54823 16785 protein-coding gene gene with protein product chromosome 1 open reading frame 26 C1orf26 NA 11318611, 19127978, 23768067 Standard NM_017673 NM_017673 NA Approved FLJ20121, HsSwt1 uc001grg.4 Q5T5J6 OTTHUMG00000035390 ENST00000367500.4:c.442A>G chr1.hg19:g.185143721A>G ENSP00000356470:p.Ile148Val NA Q8NEK9|Q9BZQ7|Q9NXQ0 hg19 CCDS1367.1 0.02 9.570692 GGAxTTA COVERED 914 0.4184981684981685 350 0.7113821138211383 119 0.3287292817679558 187 0.3269230769230769 258 0.3403693931398417 A 0.583 -0.836082 0.02713 0.635951 0.357093 ENSG00000116668 ENST00000367501;ENST00000367500;ENST00000450350 T;T;T 0.37915 1.17;1.17;1.17 5.35 0.918 0.19386 . 1.040850 0.07571 N 0.918619 T 0.00012 0.0000 L 0.55481 1.735 0.80722 P 0.0 B 0.06786 0.001 B 0.04013 0.001 T 0.45687 -0.9244 9 0.11794 T 0.64 . 1.757 0.02984 0.2943:0.2806:0.308:0.1171 rs10489579;rs17845931;rs17858910;rs58368482;rs10489579 148 Q5T5J6 SWT1_HUMAN V 148 ENSP00000356471:I148V;ENSP00000356470:I148V;ENSP00000401413:I148V ENSP00000356470:I148V I + 1 0 SWT1 183410344 0.955000 0.32602 0.002000 0.10522 0.559000 0.35586 0.566000 0.23593 -0.149000 0.11215 0.455000 0.32223 ATT NOVEL SWT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000085790.1 1 14.443862 KEEP 0 0 0 48 1536 AA 1 1 0 + 7 60 273 0 0 16.943432 230 60 8397 356 ENST00000367500.4 0.029536 1 PRG4 10216 __UNKNOWN__ __UNKNOWN__ 1 186277989 186277989 __UNKNOWN__ Silent SNP A A G rs3737940 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:186277989A>G ENST00000445192.2 + 7 3183 c.3138A>G c.(3136-3138)ccA>ccG p.P1046P PRG4_ENST00000367483.4_Silent_p.P1005P|PRG4_ENST00000367486.3_Silent_p.P1003P|PRG4_ENST00000367484.3_Silent_p.P575P|PRG4_ENST00000367485.4_Silent_p.P953P NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 1046 NA cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127) extracellular space (GO:0005615) polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044) NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 TGAGAAAACCAAAGACGACAC 0.448 NA A||| 1108 0.221246 0.1142 0.402 5008 , , NA 21201 0.125 NA 0.33 False NA ,,, NA NA NA 2504 0.2249 NA NA NA NA 0 A ,,, 658,3748 281.4+/-275.9 53,552,1598 164 175 171 3015,2859,2736,3138 -2 0.3 1 dbSNP_107 171 3044,5556 467.6+/-367.1 543,1958,1799 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous PRG4 NM_001127708.1,NM_001127709.1,NM_001127710.1,NM_005807.3 ,,, 596,2510,3397 GG,GA,AA 35.3953,14.9342,28.4638 ,,, 1005/1364,953/1312,912/1271,1046/1405 186277989 3702,9304 2203 4300 6503 SO:0001819 synonymous_variant U70136 CCDS1369.1, CCDS44287.1, CCDS44288.1 1q25-q31 2008-07-18 2004-11-15 ENSG00000116690 ENSG00000116690 10216 9364 protein-coding gene gene with protein product lubricin, megakaryocyte stimulating factor, articular superficial zone protein, Jacobs camptodactyly-arthropathy-pericarditis syndrome, camptodactyly, arthropathy, coxa vara, pericarditis syndrome, bG174L6.2 (MSF: megakaryocyte stimulating factor ) 604283 proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome) CACP NA 10545950, 9920774 Standard NM_005807 NM_005807 NA Approved JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635 uc001gru.4 Q92954 OTTHUMG00000035574 ENST00000445192.2:c.3138A>G chr1.hg19:g.186277989A>G NA Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49 hg19 CCDS1369.1 0.02 16.486843 ACCxAAG COVERED NOVEL PRG4-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000086346.1 3 19.426154 KEEP 0 2 67 88 2708 AA 1 1 0 + 12 60 428 0 0 24.829672 412 60 15141 641 ENST00000445192.2 0.028302 1 TPR 7175 __UNKNOWN__ __UNKNOWN__ 1 186283422 186283422 __UNKNOWN__ Intron SNP C C T rs61831151 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:186283422C>T ENST00000367478.4 - 51 7333 PRG4_ENST00000367483.4_3'UTR|PRG4_ENST00000367486.3_3'UTR|PRG4_ENST00000367484.3_3'UTR|PRG4_ENST00000367485.4_3'UTR|PRG4_ENST00000445192.2_3'UTR NM_003292.2 NP_003283.2 P12270 TPR_HUMAN translocated promoter region, nuclear basket protein NA NA carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032) cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631) autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8) 123 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) AAAGCTTTATCGTGTTGTATA 0.244 NA T NTRK1 papillary thyroid C||| 1157 0.23103 0.149 0.4063 5008 , , NA 14911 0.127 NA 0.33 False NA ,,, NA NA NA 2504 0.2229 NA NA NA Dom yes 1 1q25 7175 translocated promoter region E 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U69668 CCDS41446.1 1q25 2012-03-13 2012-03-13 ENSG00000047410 ENSG00000047410 7175 12017 protein-coding gene gene with protein product 189940 translocated promoter region (to activated MET oncogene) NA 1611909, 15229283 Standard NM_003292 NM_003292 NA Approved uc001grv.3 P12270 OTTHUMG00000035580 ENST00000367478.4:c.7037-264G>A chr1.hg19:g.186283422C>T NA Q15655|Q5SWY0|Q99968 hg19 CCDS41446.1 0.02 7.103864 TATxGTG COVERED NOVEL TPR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000086353.2 3 2.843267 KEEP 0 1 30 20 675 CC 0.999869 0.999869 0 - 6 60 229 0 0 14.740693 149 60 5179 218 ENST00000367478.4 0.03871 1 C1orf27 54953 __UNKNOWN__ __UNKNOWN__ 1 186363119 186363119 __UNKNOWN__ Missense_Mutation SNP C C G rs12084264 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:186363119C>G ENST00000287859.6 + 9 877 c.752C>G c.(751-753)tCt>tGt p.S251C C1orf27_ENST00000419367.3_Missense_Mutation_p.S219C|C1orf27_ENST00000432021.3_Intron|C1orf27_ENST00000367470.3_Intron NM_017847.5 NP_060317.3 Q5SWX8 ODR4_HUMAN chromosome 1 open reading frame 27 251 NA S -> C (in dbSNP:rs12084264). {ECO:0000269|PubMed:14702039}. integral component of membrane (GO:0016021) oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270) endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1) 9 ACTAGTCATTCTTTTGATGTC 0.279 NA C||| 1164 0.232428 0.149 0.4078 5008 , , NA 14393 0.127 NA 0.335 False NA ,,, NA NA NA 2504 0.2239 NA NA NA NA 0 C ,CYS/SER,CYS/SER 581,2775 48,485,1145 27 24 25 ,656,752 3.4 0.9 1 dbSNP_120 25 2399,5149 385,1629,1760 yes intron,missense,missense C1orf27 NM_001164245.1,NM_001164246.1,NM_017847.5 ,112,112 433,2114,2905 GG,GC,CC 31.7833,17.3123,27.3294 ,benign,benign ,219/423,251/455 186363119 2980,7924 1678 3774 5452 SO:0001583 missense BC003397 CCDS53448.1, CCDS53449.1, CCDS53450.1 1q25 2012-06-25 ENSG00000157181 ENSG00000157181 54953 24299 protein-coding gene gene with protein product transactivated by recombinant transforming growth factor beta 609335 NA 12868032 Standard NM_017847 NM_017847 NA Approved FLJ20505, odr-4, TTG1 uc021pgj.1 Q5SWX8 OTTHUMG00000035579 ENST00000287859.6:c.752C>G chr1.hg19:g.186363119C>G ENSP00000287859:p.Ser251Cys NA B4DNY0|E9PFR7|Q19CC6|Q8WYB6|Q9BTS2|Q9H6A6|Q9NX06 hg19 CCDS53448.1 0.02 5.121707 ATTxTTT COVERED 557 0.25503663003663 65 0.13211382113821138 148 0.4088397790055249 77 0.1346153846153846 267 0.35224274406332456 C 15.80 2.939210 0.52972 0.173123 0.317833 ENSG00000157181 ENST00000419367;ENST00000432021;ENST00000287859 T;T 0.46451 0.87;0.87 5.34 3.43 0.39272 . 0.556512 0.18307 N 0.145224 T 0.00012 0.0000 L 0.50333 1.59 0.09310 P 0.99999999387866 D;B 0.57899 0.981;0.0 P;B 0.53062 0.717;0.003 T 0.43702 -0.9375 9 0.37606 T 0.19 -3.9611 6.5884 0.22634 0.0:0.5515:0.3334:0.1151 rs12084264;rs17521893;rs12084264 219;251 E9PFR7;Q5SWX8 .;ODR4_HUMAN C 219;251;251 ENSP00000395084:S219C;ENSP00000287859:S251C ENSP00000287859:S251C S + 2 0 C1orf27 184629742 0.008000 0.16893 0.940000 0.37924 0.976000 0.68499 0.050000 0.14120 0.605000 0.29947 -0.300000 0.09419 TCT NOVEL C1orf27-001 KNOWN non_canonical_conserved|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000086352.2 0 10.169364 KEEP 0 1 35 46 1645 CC 1 0.999999 0 + 8 60 316 0 0 22.65444 112 60 4321 223 ENST00000287859.6 0.066667 0.999999 RP11-463J7.2 0 __UNKNOWN__ __UNKNOWN__ 1 190615971 190615971 __UNKNOWN__ lincRNA SNP G G A rs1170915 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:190615971G>A ENST00000413356.1 + 0 144 NR_033922.1 NA NA NA gtgagccaccgcgcccggccC 0.488 NA -||| 3256 0.65016 0.5136 0.634 5008 , , NA 10769 0.6835 NA 0.673 False NA ,,, NA NA NA 2504 0.7883 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000413356.1: chr1.hg19:g.190615971G>A NA hg19 0.02 -0.035093 ACCxCGC UNCOVERED NOVEL RP11-463J7.2-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000086305.1 0 2.407888 KEEP 9 0 0 8 283 GG 0 0 0 + 2 60 71 0 0 8.053983 0 0 0 19 ENST00000413356.1 1 0.019982 CFHR1 3078 __UNKNOWN__ __UNKNOWN__ 1 196797357 196797357 __UNKNOWN__ Silent SNP A A G rs3201739 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:196797357A>G ENST00000320493.5 + 4 676 c.588A>G c.(586-588)acA>acG p.T196T CFHR1_ENST00000367424.4_Intron|CFHR2_ENST00000367421.3_Intron NM_002113.2 NP_002104.2 Q03591 FHR1_HUMAN complement factor H-related 1 196 Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}. NA complement activation (GO:0006956) blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) NS(1)|kidney(1)|large_intestine(2)|lung(7) 11 GAAACTGGACAGAACCACCTC 0.348 NA NA NA NA NA NA NA NA NA NA NA 0 A 1322,2228 545,232,998 66 100 90 588 0.6 1 1 dbSNP_105 90 1631,6527 669,293,3117 no coding-synonymous CFHR1 NM_002113.2 1214,525,4115 GG,GA,AA 19.9926,37.2394,25.2221 196/331 196797357 2953,8755 1775 4079 5854 SO:0001819 synonymous_variant M65292 CCDS1386.1 1q32 2014-09-17 2004-08-09 2006-02-28 ENSG00000244414 ENSG00000244414 3078 Complement system 4888 protein-coding gene gene with protein product 134371 H factor (complement)-like 1, complement factor H-related 1 pseudogene, H factor (complement)-like 2 HFL1, CFHL1, CFHR1P, HFL2, CFHL1P NA 1711047, 1826708 Standard NM_002113 NM_002113 NA Approved H36-1, FHR1, CFHL, H36-2 Q03591 OTTHUMG00000036276 ENST00000320493.5:c.588A>G chr1.hg19:g.196797357A>G NA A8K465|Q3B774|Q9UJ17 hg19 CCDS1386.1 0.02 7.706399 GACxGAA COVERED NOVEL CFHR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000088251.2 0 4.212802 KEEP 1 0 0 14 441 AA 0.995343 0.995343 0 + 20 40 700 0 0 50.361169 202 60 7581 276 ENST00000320493.5 0.09009 1 CFHR5 81494 __UNKNOWN__ __UNKNOWN__ 1 196967458 196967458 __UNKNOWN__ Intron SNP G G T rs1332664 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:196967458G>T ENST00000256785.4 + 7 1256 CFHR5_ENST00000367414.5_Intron Q9BXR6 FHR5_HUMAN complement factor H-related 5 NA NA complement activation, alternative pathway (GO:0006957) extracellular region (GO:0005576) NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 49 AAAACATTTTGTTGATCTTGT 0.294 NA G||| 1533 0.30611 0.0507 0.4265 5008 , , NA 13936 0.6667 NA 0.175 False NA ,,, NA NA NA 2504 0.3292 NA NA NA NA 0 G 245,4161 12,221,1970 29 28 29 -5.8 0 1 dbSNP_88 29 1264,7332 98,1068,3132 no intron CFHR5 NM_030787.3 110,1289,5102 TT,TG,GG 14.7045,5.5606,11.6059 196967458 1509,11493 2203 4298 6501 SO:0001627 intron_variant AF295327 CCDS1387.1 1q31.3 2014-09-17 2006-02-28 ENSG00000134389 ENSG00000134389 81494 Complement system 24668 protein-coding gene gene with protein product factor H related protein 5 608593 CFHL5 NA 11058592, 12041828 Standard NM_030787 NM_030787 NA Approved FHR5, FHR-5 uc001gts.4 Q9BXR6 OTTHUMG00000036517 ENST00000256785.4:c.1147+24G>T chr1.hg19:g.196967458G>T NA Q2NKK2 hg19 CCDS1387.1 0.02 1.795159 TTTxTTG COVERED NOVEL CFHR5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000088814.2 0 4.815758 KEEP 0 0 0 16 571 GG 0.997832 0.996943 0 + 5 60 179 0 0 12.193488 74 60 2763 105 ENST00000256785.4 0.063291 0.99911 ASPM 259266 __UNKNOWN__ __UNKNOWN__ 1 197070776 197070776 __UNKNOWN__ Silent SNP C C T rs10922162 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:197070776C>T ENST00000367409.4 - 18 7861 c.7605G>A c.(7603-7605)gtG>gtA p.V2535V ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 2535 IQ 27. {ECO:0000255|PROSITE- ProRule:PRU00116}. NA developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283) cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922) breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 CCTGAATAACCACAGCAGAAT 0.348 NA c||| 1477 0.294928 0.0159 0.428 5008 , , NA 19365 0.6696 NA 0.172 False NA ,,, NA NA NA 2504 0.318 NA NA NA NA 0 , 195,4209 118.8+/-156.5 7,181,2014 87 85 86 ,7605 1.4 0.9 1 dbSNP_120 86 1298,7296 254.3+/-279.6 97,1104,3096 no intron,coding-synonymous ASPM NM_001206846.1,NM_018136.4 , 104,1285,5110 TT,TC,CC 15.1036,4.4278,11.4864 , ,2535/3478 197070776 1493,11505 2202 4297 6499 SO:0001819 synonymous_variant AY367065 CCDS1389.1, CCDS55672.1 1q31 2008-02-05 2006-09-12 ENSG00000066279 ENSG00000066279 259266 19048 protein-coding gene gene with protein product 605481 microcephaly, primary autosomal recessive 5, asp (abnormal spindle)-like, microcephaly associated (Drosophila) MCPH5 NA 11078481 Standard NM_018136 NM_018136 NA Approved Calmbp1, ASP, FLJ10517, FLJ10549 uc001gtu.3 Q8IZT6 OTTHUMG00000036277 ENST00000367409.4:c.7605G>A chr1.hg19:g.197070776C>T NA Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6 hg19 CCDS1389.1 0.02 11.009058 AACxACA COVERED NOVEL ASPM-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000088256.1 1 16.554133 KEEP 0 0 0 55 1960 CC 1 1 0 - 15 60 552 0 0 37.058946 261 60 9721 408 ENST00000367409.4 0.054348 1 ASPM 259266 __UNKNOWN__ __UNKNOWN__ 1 197102745 197102745 __UNKNOWN__ Intron SNP A A G rs4915344 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:197102745A>G ENST00000367409.4 - 6 2430 ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) NA NA developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283) cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922) breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 AACAAAAGAAAGAATGTTTCT 0.328 NA .||| 1501 0.29972 0.0265 0.428 5008 , , NA 18309 0.6706 NA 0.172 False NA ,,, NA NA NA 2504 0.3272 NA NA NA NA 0 A , 193,4211 105.6+/-144.1 7,179,2016 47 46 46 , -0.6 0 1 dbSNP_111 46 1290,7310 227.9+/-263.1 96,1098,3106 no intron,intron ASPM NM_001206846.1,NM_018136.4 , 103,1277,5122 GG,GA,AA 15.0,4.3824,11.4042 , , 197102745 1483,11521 2202 4300 6502 SO:0001627 intron_variant AY367065 CCDS1389.1, CCDS55672.1 1q31 2008-02-05 2006-09-12 ENSG00000066279 ENSG00000066279 259266 19048 protein-coding gene gene with protein product 605481 microcephaly, primary autosomal recessive 5, asp (abnormal spindle)-like, microcephaly associated (Drosophila) MCPH5 NA 11078481 Standard NM_018136 NM_018136 NA Approved Calmbp1, ASP, FLJ10517, FLJ10549 uc001gtu.3 Q8IZT6 OTTHUMG00000036277 ENST00000367409.4:c.2174-20T>C chr1.hg19:g.197102745A>G NA Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6 hg19 CCDS1389.1 0.02 12.417408 GAAxGAA COVERED NOVEL ASPM-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000088256.1 2 9.327879 KEEP 0 0 0 31 984 AA 0.999997 0.999997 0 - 16 60 599 0 0 41.661036 236 60 8878 317 ENST00000367409.4 0.063492 1 ZBTB41 360023 __UNKNOWN__ __UNKNOWN__ 1 197128470 197128470 __UNKNOWN__ 3'UTR SNP G G A rs147255221 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:197128470G>A ENST00000367405.4 - 0 2817 ZBTB41_ENST00000467322.1_5'UTR NM_194314.2 NP_919290.2 Q5SVQ8 ZBT41_HUMAN zinc finger and BTB domain containing 41 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2) 40 CCAAAAATCTGTGGAATGTTT 0.353 NA G||| 56 0.0111821 0.0 0.0288 5008 , , NA 18409 0.0347 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 G 6,4400 11.4+/-27.6 0,6,2197 56 57 57 1.7 0.6 1 dbSNP_134 57 3,8595 3.0+/-9.4 0,3,4296 yes utr-3 ZBTB41 NM_194314.2 0,9,6493 AA,AG,GG 0.0349,0.1362,0.0692 197128470 9,12995 2203 4299 6502 SO:0001624 3_prime_UTR_variant CCDS30960.1 1q31.3 2013-01-08 ENSG00000177888 ENSG00000177888 360023 -, Zinc fingers, C2H2-type, BTB/POZ domain containing 24819 protein-coding gene gene with protein product NA Standard NM_194314 NM_194314 NA Approved FRBZ1, FLJ36199, DKFZp686C06120, ZNF924 uc001gtx.1 Q5SVQ8 OTTHUMG00000036275 ENST00000367405.4:c.*19C>T chr1.hg19:g.197128470G>A NA A2RUA8|Q6MZT8|Q6ZR25|Q7Z4T1|Q8IZ99 hg19 CCDS30960.1 0.02 18.796283 TCTxTGG COVERED NOVEL ZBTB41-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000088249.2 5 22.874634 KEEP 0 0 0 76 2707 GG 1 1 0 - 16 60 567 0 0 34.086889 451 60 17140 649 ENST00000367405.4 0.034261 1 ZBTB41 360023 __UNKNOWN__ __UNKNOWN__ 1 197128726 197128726 __UNKNOWN__ Silent SNP G G A rs12128631 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:197128726G>A ENST00000367405.4 - 10 2561 c.2493C>T c.(2491-2493)ctC>ctT p.L831L ZBTB41_ENST00000467322.1_5'UTR NM_194314.2 NP_919290.2 Q5SVQ8 ZBT41_HUMAN zinc finger and BTB domain containing 41 831 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2) 40 AAGATGGTGGGAGTGTGGTAG 0.453 NA G||| 1491 0.297724 0.0265 0.4251 5008 , , NA 19355 0.6716 NA 0.17 False NA ,,, NA NA NA 2504 0.32 NA NA NA NA 0 G 197,4209 121.3+/-158.8 7,183,2013 203 196 198 2493 -8.9 0 1 dbSNP_120 198 1300,7300 257.3+/-281.4 97,1106,3097 no coding-synonymous ZBTB41 NM_194314.2 104,1289,5110 AA,AG,GG 15.1163,4.4712,11.5101 831/910 197128726 1497,11509 2203 4300 6503 SO:0001819 synonymous_variant CCDS30960.1 1q31.3 2013-01-08 ENSG00000177888 ENSG00000177888 360023 -, Zinc fingers, C2H2-type, BTB/POZ domain containing 24819 protein-coding gene gene with protein product NA Standard NM_194314 NM_194314 NA Approved FRBZ1, FLJ36199, DKFZp686C06120, ZNF924 uc001gtx.1 Q5SVQ8 OTTHUMG00000036275 ENST00000367405.4:c.2493C>T chr1.hg19:g.197128726G>A NA A2RUA8|Q6MZT8|Q6ZR25|Q7Z4T1|Q8IZ99 hg19 CCDS30960.1 0.02 16.942907 TGGxAGT COVERED NOVEL ZBTB41-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000088249.2 3 19.598277 KEEP 0 1 31 76 2676 GG 1 1 0 - 19 60 679 0 0 43.659663 387 60 14557 589 ENST00000367405.4 0.046798 1 CRB1 23418 __UNKNOWN__ __UNKNOWN__ 1 197297540 197297540 __UNKNOWN__ Intron SNP A A T rs12042179|rs369741574 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:197297540A>T ENST00000367399.2 + 2 70 CRB1_ENST00000367400.3_Intron|CRB1_ENST00000535699.1_Intron|CRB1_ENST00000538660.1_Intron NM_001193640.1 NP_001180569.1 P82279 CRUM1_HUMAN crumbs family member 1, photoreceptor morphogenesis associated NA NA cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009) extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 GTTACTTTTTATTTCCTTGTA 0.299 NA A||| 2019 0.403155 0.0378 0.5461 5008 , , NA 17238 0.7599 NA 0.4235 False NA ,,, NA NA NA 2504 0.407 NA NA NA NA 0 A , 378,4012 25,328,1842 25 26 26 , 0.8 0.6 1 dbSNP_120 26 3344,5254 664,2016,1619 no intron,intron CRB1 NM_001193640.1,NM_201253.2 , 689,2344,3461 TT,TA,AA 38.8928,8.6105,28.6572 , , 197297540 3722,9266 2195 4299 6494 SO:0001627 intron_variant CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1 1q31-q32.1 2014-02-06 2014-02-06 ENSG00000134376 ENSG00000134376 23418 2343 protein-coding gene gene with protein product 604210 crumbs (Drosophila) homolog 1, crumbs homolog 1 (Drosophila) RP12 NA 10373321, 10508521 Standard NM_201253 NM_201253 NA Approved LCA8 uc001gtz.3 P82279 OTTHUMG00000035663 ENST00000367399.2:c.71-12A>T chr1.hg19:g.197297540A>T NA A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1 hg19 CCDS53454.1 0.02 1.719683 TTTxTTT COVERED NOVEL CRB1-005 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000280653.1 1 3.564646 KEEP 0 0 0 12 340 AA 0.993634 0.987376 0 + 4 60 140 0 0 9.387795 61 60 2077 77 ENST00000367399.2 0.061538 0.993703 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 197474857 197474857 __UNKNOWN__ IGR SNP A A T rs139664076|rs187313229 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:197474857A>T NA NA CRB1 (27272 upstream) : DENND1B (46527 downstream) NA NA NA TAATTTACACAGTCAAAAAGT 0.303 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.197474857A>T NA hg19 0.02 6.354845 CACxGTC COVERED NOVEL 0 0 5.41658 KEEP 0 0 0 18 574 AA 0.999859 0.999859 0 8 70 294 0 0 19.190834 163 70 6049 207 0.046784 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 197477782 197477782 __UNKNOWN__ IGR SNP T T C rs117885783 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:197477782T>C NA NA CRB1 (30197 upstream) : DENND1B (43602 downstream) NA NA NA TTTCAATAAATATTTAGAATA 0.249 NA T||| 19 0.00379393 0.0008 0.0029 5008 , , NA 14446 0.0159 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.197477782T>C NA hg19 0.02 4.191195 AAAxATT COVERED NOVEL 0 2 6.920216 KEEP 0 0 0 23 700 TT 0.999892 0.999892 0 5 60 188 0 0 11.901252 130 60 4741 179 0.037037 1 NEK7 140609 __UNKNOWN__ __UNKNOWN__ 1 198225658 198225658 __UNKNOWN__ 3'UTR SNP T T C rs6688481 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:198225658T>C ENST00000367383.1 + 0 583 NEK7_ENST00000538004.1_Intron|NEK7_ENST00000367385.4_Intron Q8TDX7 NEK7_HUMAN NIMA-related kinase 7 NA NA cytokinesis (GO:0000910)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle (GO:0007346)|spindle assembly (GO:0051225) cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674) endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 21 TGAAATTCTCTGTACCAACTT 0.348 NA T||| 1077 0.215056 0.3238 0.1571 5008 , , NA 19975 0.2431 NA 0.16 False NA ,,, NA NA NA 2504 0.137 NA NA NA NA 0 T 535,1215 81,373,421 10 10 10 -3.4 0 1 dbSNP_116 10 519,3449 35,449,1500 no intron NEK7 NM_133494.2 116,822,1921 CC,CT,TT 13.0796,30.5714,18.433 198225658 1054,4664 875 1984 2859 SO:0001624 3_prime_UTR_variant AB062450 CCDS1394.1 1q31.3 2012-11-15 2012-11-15 ENSG00000151414 ENSG00000151414 140609 13386 protein-coding gene gene with protein product 606848 NIMA (never in mitosis gene a)-related kinase 7 NA 11701951 Standard NM_133494 NM_133494 NA Approved uc001gun.4 Q8TDX7 OTTHUMG00000035658 ENST00000367383.1:c.*39T>C chr1.hg19:g.198225658T>C NA A6NGT8 hg19 0.02 31.336911 CTCxGTA COVERED NOVEL NEK7-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000086552.1 3 28.886447 KEEP 0 0 0 96 3049 TT 1 1 0 + 19 60 692 0 0 39.818255 731 60 27514 1016 ENST00000367383.1 0.025333 1 PTPRC 5788 __UNKNOWN__ __UNKNOWN__ 1 198666089 198666089 __UNKNOWN__ Intron SNP A A G rs2296617 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:198666089A>G ENST00000442510.2 + 4 439 PTPRC_ENST00000352140.3_Intron|PTPRC_ENST00000391970.3_Intron|PTPRC_ENST00000367376.2_Intron|PTPRC_ENST00000594404.1_Intron|PTPRC_ENST00000348564.6_Intron P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C NA NA axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852) external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886) protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001) breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 TCATTTAGAAAATTCTACAGT 0.333 NA A||| 70 0.0139776 0.0008 0.0014 5008 , , NA 21339 0.0675 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 A , 1,4405 0,1,2202 41 43 42 , 1 0 1 dbSNP_100 42 0,8600 0,0,4300 no intron,intron PTPRC NM_002838.3,NM_080921.2 , 0,1,6502 GG,GA,AA 0.0,0.0227,0.0077 , , 198666089 1,13005 2203 4300 6503 SO:0001627 intron_variant Y00062 CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2 1q31-q32 2014-09-17 ENSG00000081237 ENSG00000081237 5788 CD molecules, Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Fibronectin type III domain containing 9666 protein-coding gene gene with protein product 151460 CD45 NA 2169617 Standard NM_001267798 NA Approved LCA, T200, GP180 uc001gur.2 P08575 OTTHUMG00000035702 ENST00000442510.2:c.298+51A>G chr1.hg19:g.198666089A>G NA A8K7W6|Q16614|Q9H0Y6 hg19 CCDS1397.2 0.02 6.81571 GAAxATT COVERED NOVEL PTPRC-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000086814.4 1 3.006892 KEEP 0 0 0 10 286 AA 0.992708 0.992708 0 + 6 60 225 0 0 14.189766 158 60 5576 176 ENST00000442510.2 0.036585 1 PTPRC 5788 __UNKNOWN__ __UNKNOWN__ 1 198671653 198671653 __UNKNOWN__ Missense_Mutation SNP A A G rs4915154 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:198671653A>G ENST00000442510.2 + 6 718 c.577A>G c.(577-579)Acc>Gcc p.T193A PTPRC_ENST00000352140.3_Intron|PTPRC_ENST00000391970.3_3'UTR|PTPRC_ENST00000367376.2_Missense_Mutation_p.T191A|PTPRC_ENST00000594404.1_Intron|PTPRC_ENST00000348564.6_Intron P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 191 NA axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852) external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886) protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001) breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 CACAGCGAACACCTCAGGTCT 0.458 NA A||| 282 0.0563099 0.0015 0.0692 5008 , , NA 19264 0.1687 NA 0.003 False NA ,,, NA NA NA 2504 0.0603 NA NA NA NA 0 GRCh37 CS034627 PTPRC S rs4915154 A ALA/THR, 25,4381 31.7+/-61.6 0,25,2178 291 246 261 571, -11.7 0 1 dbSNP_111 261 62,8538 38.3+/-94.2 2,58,4240 yes missense,intron PTPRC NM_002838.3,NM_080921.2 58, 2,83,6418 GG,GA,AA 0.7209,0.5674,0.6689 benign, 191/1305, 198671653 87,12919 2203 4300 6503 SO:0001583 missense Y00062 CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2 1q31-q32 2014-09-17 ENSG00000081237 ENSG00000081237 5788 CD molecules, Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Fibronectin type III domain containing 9666 protein-coding gene gene with protein product 151460 CD45 NA 2169617 Standard NM_001267798 NA Approved LCA, T200, GP180 uc001gur.2 P08575 OTTHUMG00000035702 ENST00000442510.2:c.577A>G chr1.hg19:g.198671653A>G ENSP00000411355:p.Thr193Ala NA A8K7W6|Q16614|Q9H0Y6 hg19 CCDS1397.2 0.02 19.782885 AACxCCT COVERED 129 0.059065934065934064 0 0.0 24 0.06629834254143646 104 0.18181818181818182 1 0.0013192612137203166 A 8.343 0.829101 0.16749 0.005674 0.007209 ENSG00000081237 ENST00000367376;ENST00000367366;ENST00000271610;ENST00000442510;ENST00000367367 . . . 5.84 -11.7 0.00046 . 0.680687 0.12876 N 0.431858 T 0.00039 0.0001 L 0.29908 0.895 0.44432 P 0.002642999999999951 B;B;B 0.13594 0.008;0.005;0.0 B;B;B 0.09377 0.002;0.004;0.0 T 0.04840 -1.0923 8 0.40728 T 0.16 . 11.7486 0.51835 0.4607:0.0:0.4367:0.1026 rs4915154;rs52798074;rs4915154 127;232;191 F5GXZ3;Q6Q1P2;P08575 .;.;PTPRC_HUMAN A 193;127;232;191;125 . ENSP00000271610:T232A T + 1 0 PTPRC 196938276 0.000000 0.05858 0.000000 0.03702 0.021000 0.10359 -4.611000 0.00208 -2.661000 0.00419 -0.309000 0.09137 ACC NOVEL PTPRC-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000086814.4 0 13.539243 KEEP 0 0 0 45 1359 AA 1 1 0 + 13 60 482 0 0 28.755655 444 60 15267 604 ENST00000442510.2 0.028446 1 PTPRC 5788 __UNKNOWN__ __UNKNOWN__ 1 198687159 198687159 __UNKNOWN__ Intron SNP T T C rs45541438 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:198687159T>C ENST00000442510.2 + 14 1591 PTPRC_ENST00000352140.3_Intron|PTPRC_ENST00000367376.2_Intron|PTPRC_ENST00000594404.1_Intron|PTPRC_ENST00000348564.6_Intron P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C NA NA axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852) external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886) protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001) breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 ATCCAAGTATTGTCAAGTAAT 0.294 NA T||| 338 0.067492 0.0023 0.0735 5008 , , NA 18165 0.2014 NA 0.0129 False NA ,,, NA NA NA 2504 0.0695 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Y00062 CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2 1q31-q32 2014-09-17 ENSG00000081237 ENSG00000081237 5788 CD molecules, Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Fibronectin type III domain containing 9666 protein-coding gene gene with protein product 151460 CD45 NA 2169617 Standard NM_001267798 NA Approved LCA, T200, GP180 uc001gur.2 P08575 OTTHUMG00000035702 ENST00000442510.2:c.1451-64T>C chr1.hg19:g.198687159T>C NA A8K7W6|Q16614|Q9H0Y6 hg19 CCDS1397.2 0.02 4.205492 TATxGTC COVERED NOVEL PTPRC-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000086814.4 0 2.706295 KEEP 0 0 0 9 246 TT 0.99254 0.992539 0 + 5 60 177 0 0 11.029621 117 60 4138 135 ENST00000442510.2 0.040984 0.999999 NR5A2 2494 __UNKNOWN__ __UNKNOWN__ 1 200143281 200143281 __UNKNOWN__ Silent SNP C C T rs1060060 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:200143281C>T ENST00000367362.3 + 8 1815 c.1569C>T c.(1567-1569)aaC>aaT p.N523N NR5A2_ENST00000544748.1_Silent_p.N451N|NR5A2_ENST00000236914.3_Silent_p.N477N NM_001276464.1|NM_205860.1 NP_001263393.1|NP_995582.1 O00482 NR5A2_HUMAN nuclear receptor subfamily 5, group A, member 2 523 NA bile acid metabolic process (GO:0008206)|cholesterol homeostasis (GO:0042632)|embryo development (GO:0009790)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|homeostatic process (GO:0042592)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral genome replication (GO:0045070)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367) cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|phospholipid binding (GO:0005543)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270) cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 31 Prostate(682;0.19) AGCACCTGAACGGGGATGTGC 0.448 NA C||| 1775 0.354433 0.3669 0.3213 5008 , , NA 17133 0.5179 NA 0.2913 False NA ,,, NA NA NA 2504 0.2577 NA NA NA Melanoma(179;1138 2773 15678 26136) NA 0 C , 1499,2907 478.1+/-358.1 267,965,971 60 55 56 1431,1569 -0.3 1 1 dbSNP_86 56 2522,6078 413.5+/-351.2 386,1750,2164 no coding-synonymous,coding-synonymous NR5A2 NM_003822.3,NM_205860.1 , 653,2715,3135 TT,TC,CC 29.3256,34.0218,30.9165 , 477/496,523/542 200143281 4021,8985 2203 4300 6503 SO:0001819 synonymous_variant U93553 CCDS1400.1, CCDS1401.1, CCDS60383.1 1q32.11 2013-01-16 ENSG00000116833 ENSG00000116833 2494 Nuclear hormone receptors 7984 protein-coding gene gene with protein product liver receptor homolog-1 604453 FTF NA 9858833, 7680097 Standard NM_205860 NA Approved FTZ-F1beta, hB1F, LRH-1, FTZ-F1, hB1F-2, B1F2 uc001gvb.4 O00482 OTTHUMG00000035635 ENST00000367362.3:c.1569C>T chr1.hg19:g.200143281C>T NA B4E2P3|O95642|Q147U3 hg19 CCDS1401.1 0.02 17.445106 GAAxGGG COVERED NOVEL NR5A2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000086497.2 2 16.553173 KEEP 0 0 0 55 1918 CC 1 1 0 + 12 60 445 0 0 26.62399 404 60 14375 573 ENST00000367362.3 0.028846 1 DDX59 83479 __UNKNOWN__ __UNKNOWN__ 1 200635550 200635550 __UNKNOWN__ Missense_Mutation SNP T T C rs3795634 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:200635550T>C ENST00000331314.6 - 2 532 c.319A>G c.(319-321)Atc>Gtc p.I107V DDX59_ENST00000447706.2_Missense_Mutation_p.I107V|DDX59_ENST00000367348.3_Missense_Mutation_p.I107V NM_001031725.4 NP_001026895.2 Q5T1V6 DDX59_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 59 107 NA I -> V (in dbSNP:rs3795634). cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634) ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3) 21 ACAACACAGATGGGTTCCCCT 0.463 NA C||| 1094 0.21845 0.1664 0.2392 5008 , , NA 21100 0.4365 NA 0.0696 False NA ,,, NA NA NA 2504 0.2025 NA NA NA NA 0 C VAL/ILE 639,3767 766.7+/-413.5 47,545,1611 70 70 70 319 4.3 0.1 1 dbSNP_107 70 535,8065 795.4+/-407.5 11,513,3776 yes missense DDX59 NM_001031725.4 29 58,1058,5387 CC,CT,TT 6.2209,14.503,9.0266 benign 107/620 200635550 1174,11832 2203 4300 6503 SO:0001583 missense BC041801 CCDS30964.1 1q32.1 2010-07-14 ENSG00000118197 ENSG00000118197 83479 Zinc fingers, HIT-type, DEAD-boxes 25360 protein-coding gene gene with protein product 615464 NA Standard NM_001031725.4 NM_001031725 NA Approved DKFZP564B1023, ZNHIT5 uc009wzk.3 Q5T1V6 OTTHUMG00000035725 ENST00000331314.6:c.319A>G chr1.hg19:g.200635550T>C ENSP00000330460:p.Ile107Val NA Q6PJL2|Q8IVW3|Q9H0W3 hg19 CCDS30964.1 0.02 13.898145 AGAxGGG COVERED 434 0.1987179487179487 78 0.15853658536585366 67 0.1850828729281768 231 0.40384615384615385 58 0.07651715039577836 C 4.298 0.054574 0.08291 0.14503 0.062209 ENSG00000118197 ENST00000447706;ENST00000367348;ENST00000331314;ENST00000436897 T;T;T;T 0.40476 1.03;1.03;1.03;1.03 5.24 4.32 0.51571 Zinc finger, HIT-type (1); 0.058799 0.64402 N 0.000002 T 0.00012 0.0000 N 0.00960 -1.095 0.46096 P 0.0011339999999999684 B;B 0.02656 0.0;0.0 B;B 0.04013 0.001;0.001 T 0.42932 -0.9422 9 0.02654 T 1 -14.6233 11.8633 0.52478 0.0:0.8574:0.0:0.1426 rs3795634;rs52791317;rs56843782;rs3795634 107;107 B7Z5N6;Q5T1V6 .;DDX59_HUMAN V 107 ENSP00000394367:I107V;ENSP00000356317:I107V;ENSP00000330460:I107V;ENSP00000391312:I107V ENSP00000330460:I107V I - 1 0 DDX59 198902173 0.984000 0.35163 0.063000 0.19743 0.742000 0.42306 2.697000 0.47060 0.620000 0.30215 -0.222000 0.12452 ATC NOVEL DDX59-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000086883.2 3 35.795774 KEEP 0 0 0 119 3665 TT 1 1 0 - 11 60 380 0 0 21.535627 378 60 13792 613 ENST00000331314.6 0.028278 1 C1orf106 55765 __UNKNOWN__ __UNKNOWN__ 1 200883200 200883200 __UNKNOWN__ 3'UTR SNP G G A rs199712902 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:200883200G>A ENST00000367342.4 + 0 2635 C1orf106_ENST00000465162.1_Intron NM_018265.3 NP_060735.3 Q3KP66 CA106_HUMAN chromosome 1 open reading frame 106 NA NA endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2) 21 ACATACTCATGCACATGACTC 0.562 NA g||| 544 0.108626 0.1218 0.1239 5008 , , NA 18931 0.1806 NA 0.0398 False NA ,,, NA NA NA 2504 0.0767 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK001763 CCDS44292.1 1q32.1 2011-02-15 ENSG00000163362 ENSG00000163362 55765 25599 protein-coding gene gene with protein product NA 14702039 Standard NM_018265 NM_018265 NA Approved FLJ10901 uc001gvo.4 Q3KP66 OTTHUMG00000035789 ENST00000367342.4:c.*443G>A chr1.hg19:g.200883200G>A NA B4E1K9|E9PFY0|Q9NV65|Q9NVI0 hg19 0.02 10.10563 CATxCAC COVERED NOVEL C1orf106-001 KNOWN basic protein_coding NA protein_coding OTTHUMT00000087057.2 3 9.029242 KEEP 127 0 0 30 1059 GG 0.999879 0.999879 0 + 15 60 516 0 0 33.163525 274 60 10251 471 ENST00000367342.4 0.051903 1 KIF21B 23046 __UNKNOWN__ __UNKNOWN__ 1 200941934 200941934 __UNKNOWN__ 3'UTR SNP T T C rs296567 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:200941934T>C ENST00000332129.2 - 0 6480 NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B NA NA ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018) cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777) autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 AGGGAAAGAATATAGGGGAAG 0.478 NA T||| 585 0.116813 0.034 0.1239 5008 , , NA 15838 0.127 NA 0.1759 False NA ,,, NA NA NA 2504 0.1524 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC031927 CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1 1q32.1 2013-01-10 ENSG00000116852 ENSG00000116852 23046 Kinesins, WD repeat domain containing 29442 protein-coding gene gene with protein product 608322 NA 9455484 Standard XM_371332 NM_001252100 NA Approved DKFZP434J212, KIAA0449 uc001gvs.2 O75037 OTTHUMG00000035787 ENST00000332129.2:c.*1289A>G chr1.hg19:g.200941934T>C NA B2RP62|B7ZMI0|Q5T4J3 hg19 CCDS30965.1 0.02 4.587327 GAAxATA COVERED NOVEL KIF21B-002 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000087055.2 2 8.421559 KEEP 0 0 0 28 833 TT 0.999997 0.999996 0 - 6 60 213 0 0 13.755089 118 60 4228 192 ENST00000332129.2 0.048387 0.999999 CACNA1S 779 __UNKNOWN__ __UNKNOWN__ 1 201035071 201035071 __UNKNOWN__ Silent SNP G G A rs2297902 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:201035071G>A ENST00000362061.3 - 22 2974 c.2748C>T c.(2746-2748)caC>caT p.H916H CACNA1S_ENST00000367338.3_Silent_p.H916H NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 916 NA Missing (in Ref. 2; AAB37235). {ECO:0000305}. axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941) cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891) high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245) NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661) ACTGCACCACGTGCTGGGGAC 0.597 NA G||| 270 0.0539137 0.0076 0.0403 5008 , , NA 18522 0.1905 NA 0.0189 False NA ,,, NA NA NA 2504 0.0215 NA NA NA NA 0 G 52,4354 50.9+/-86.3 1,50,2152 66 51 56 2748 4.4 1 1 dbSNP_100 56 109,8491 57.5+/-118.9 1,107,4192 no coding-synonymous CACNA1S NM_000069.2 2,157,6344 AA,AG,GG 1.2674,1.1802,1.2379 916/1874 201035071 161,12845 2203 4300 6503 SO:0001819 synonymous_variant L33798 CCDS1407.1 1q32 2012-03-07 ENSG00000081248 ENSG00000081248 779 Calcium channel subunits, Voltage-gated ion channels / Calcium channels 1397 protein-coding gene gene with protein product 114208 HOKPP, MHS5, CACNL1A3 NA 7916735, 16382099 Standard NM_000069 NM_000069 NA Approved Cav1.1, hypoPP uc001gvv.3 Q13698 OTTHUMG00000035784 ENST00000362061.3:c.2748C>T chr1.hg19:g.201035071G>A NA A4IF51|B1ALM2|Q12896|Q13934 hg19 CCDS1407.1 0.02 8.74303 CACxTGC COVERED NOVEL CACNA1S-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000087049.1 3 10.231319 KEEP 0 0 0 34 1141 GG 0.999998 0.999998 0 - 11 60 396 0 0 25.699609 218 60 7622 323 ENST00000362061.3 0.048035 1 TMEM9 252839 __UNKNOWN__ __UNKNOWN__ 1 201104318 201104318 __UNKNOWN__ 3'UTR SNP T T C rs3087914 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:201104318T>C ENST00000367330.1 - 0 1541 TMEM9_ENST00000367332.1_3'UTR|TMEM9_ENST00000367334.5_3'UTR|TMEM9_ENST00000472411.1_5'UTR|TMEM9_ENST00000367333.2_3'UTR Q9P0T7 TMEM9_HUMAN transmembrane protein 9 NA NA transport (GO:0006810) integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764) liver(1)|lung(1)|stomach(1) 3 Breast(1374;0.000301) gctgaggcgctggggctgggA 0.622 NA T||| 492 0.0982428 0.0658 0.098 5008 , , NA 17374 0.1409 NA 0.0726 False NA ,,, NA NA NA 2504 0.1247 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS1408.1, CCDS73001.1 1q41 2008-02-05 ENSG00000116857 ENSG00000116857 252839 18823 protein-coding gene gene with protein product NA Standard NM_016456 NM_001288565 NA Approved TMEM9A uc001gvy.3 Q9P0T7 OTTHUMG00000035831 ENST00000367330.1:c.*473A>G chr1.hg19:g.201104318T>C NA B1ALM6|Q96NQ9|Q9BQF5 hg19 CCDS1408.1 0.02 8.975495 CGCxGGG COVERED NOVEL TMEM9-002 KNOWN alternative_5_UTR|basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000087160.1 4 17.088093 KEEP 0 0 0 57 1748 TT 1 1 0 - 10 60 359 0 0 22.484577 238 70 8636 356 ENST00000367330.1 0.040323 1 IGFN1 91156 __UNKNOWN__ __UNKNOWN__ 1 201176651 201176651 __UNKNOWN__ Missense_Mutation SNP C C T rs11804558 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:201176651C>T ENST00000335211.4 + 12 2760 c.2630C>T c.(2629-2631)aCg>aTg p.T877M IGFN1_ENST00000295591.8_5'UTR|IGFN1_ENST00000451870.2_Intron NM_001164586.1 NP_001158058.1 Q86VF2 IGFN1_HUMAN immunoglobulin-like and fibronectin type III domain containing 1 0 Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}. NA nucleus (GO:0005634)|Z disc (GO:0030018) autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 GCTGGACTGACGGAGTCTGGT 0.607 NA C||| 865 0.172724 0.5439 0.0821 5008 , , NA 15809 0.0317 NA 0.0159 False NA ,,, NA NA NA 2504 0.0419 NA NA NA NA 0 C MET/THR 625,759 138,349,205 75 79 78 2630 1 0 1 dbSNP_120 78 46,3136 0,46,1545 yes missense IGFN1 NM_001164586.1 81 138,395,1750 TT,TC,CC 1.4456,45.159,14.6956 877/3709 201176651 671,3895 692 1591 2283 SO:0001583 missense AY245430 CCDS53455.1 1q32.1 2013-02-11 ENSG00000163395 ENSG00000163395 91156 Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing 24607 protein-coding gene gene with protein product NA Standard NM_178275 NM_001164586 NA Approved DKFZp434B1231, EEF1A2BP1 uc001gwc.3 Q86VF2 OTTHUMG00000035728 ENST00000335211.4:c.2630C>T chr1.hg19:g.201176651C>T ENSP00000334714:p.Thr877Met NA F8WAI1|Q9NT72 hg19 CCDS53455.1 0.02 8.345801 TGAxGGA COVERED 286 0.13095238095238096 240 0.4878048780487805 23 0.06353591160220995 14 0.024475524475524476 9 0.011873350923482849 C 4.472 0.087462 0.08583 0.45159 0.014456 ENSG00000163395 ENST00000335211 T 0.43294 0.95 3.43 1.02 0.19986 . . . . . T 0.00012 0.0000 N 0.08118 0 0.58432 P 6.999999999979245E-6 . . . . . . T 0.47071 -0.9145 5 . . . . 3.194 0.06626 0.0:0.1397:0.247:0.6133 rs11804558;rs61428929;rs11804558 . . . M 877 ENSP00000334714:T877M . T + 2 0 IGFN1 199443274 0.000000 0.05858 0.001000 0.08648 0.050000 0.14768 -0.680000 0.05197 0.187000 0.20147 -0.302000 0.09304 ACG NOVEL IGFN1-202 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding 0 5.115894 KEEP 0 0 0 17 560 CC 0.999366 0.999366 0 + 9 60 317 0 0 19.949047 197 60 6754 250 ENST00000335211.4 0.043689 1 IGFN1 91156 __UNKNOWN__ __UNKNOWN__ 1 201176968 201176968 __UNKNOWN__ Missense_Mutation SNP A A G rs12063867 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:201176968A>G ENST00000335211.4 + 12 3077 c.2947A>G c.(2947-2949)Atg>Gtg p.M983V IGFN1_ENST00000295591.8_5'UTR|IGFN1_ENST00000451870.2_Intron NM_001164586.1 NP_001158058.1 Q86VF2 IGFN1_HUMAN immunoglobulin-like and fibronectin type III domain containing 1 0 Ig-like 4. NA nucleus (GO:0005634)|Z disc (GO:0030018) autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 TCCAGGAGAAATGGGGTCCGG 0.567 NA A||| 1521 0.303714 0.1762 0.3156 5008 , , NA 17189 0.3095 NA 0.3509 False NA ,,, NA NA NA 2504 0.4131 NA NA NA NA 0 A VAL/MET 272,1112 29,214,449 33 33 33 2947 0.2 0 1 dbSNP_120 33 1071,2111 180,711,700 yes missense IGFN1 NM_001164586.1 21 209,925,1149 GG,GA,AA 33.6581,19.6532,29.4131 983/3709 201176968 1343,3223 692 1591 2283 SO:0001583 missense AY245430 CCDS53455.1 1q32.1 2013-02-11 ENSG00000163395 ENSG00000163395 91156 Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing 24607 protein-coding gene gene with protein product NA Standard NM_178275 NM_001164586 NA Approved DKFZp434B1231, EEF1A2BP1 uc001gwc.3 Q86VF2 OTTHUMG00000035728 ENST00000335211.4:c.2947A>G chr1.hg19:g.201176968A>G ENSP00000334714:p.Met983Val NA F8WAI1|Q9NT72 hg19 CCDS53455.1 0.02 7.238547 GAAxTGG COVERED 671 0.30723443223443225 103 0.20934959349593496 113 0.31215469613259667 190 0.3321678321678322 265 0.3496042216358839 A 2.912 -0.225142 0.06022 0.196532 0.336581 ENSG00000163395 ENST00000335211 T 0.50001 0.76 4.29 0.165 0.14995 . . . . . T 0.00012 0.0000 N 0.08118 0 0.58432 P 1.0000000000287557E-6 . . . . . . T 0.44205 -0.9343 5 . . . . 4.4644 0.11682 0.4836:0.4039:0.1125:0.0 rs12063867;rs12747188;rs17423952 . . . V 983 ENSP00000334714:M983V . M + 1 0 IGFN1 199443591 0.000000 0.05858 0.000000 0.03702 0.355000 0.29361 0.185000 0.16958 0.232000 0.21100 0.533000 0.62120 ATG NOVEL IGFN1-202 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding 0 4.513037 KEEP 0 0 0 15 464 AA 0.99649 0.99649 0 + 8 60 306 0 0 20.834615 143 60 5151 201 ENST00000335211.4 0.05298 1 IGFN1 91156 __UNKNOWN__ __UNKNOWN__ 1 201177246 201177246 __UNKNOWN__ Silent SNP T T C rs72751165 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:201177246T>C ENST00000335211.4 + 12 3355 c.3225T>C c.(3223-3225)ggT>ggC p.G1075G IGFN1_ENST00000295591.8_5'UTR|IGFN1_ENST00000451870.2_Intron NM_001164586.1 NP_001158058.1 Q86VF2 IGFN1_HUMAN immunoglobulin-like and fibronectin type III domain containing 1 0 Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}. NA nucleus (GO:0005634)|Z disc (GO:0030018) autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 ATTCAGATGGTGGCCTAGGGA 0.602 NA t||| 1561 0.311701 0.2065 0.3184 5008 , , NA 17489 0.3095 NA 0.3499 False NA ,,, NA NA NA 2504 0.4121 NA NA NA NA 0 T 299,1085 33,233,426 44 47 46 3225 -2.6 0 1 dbSNP_130 46 1074,2108 181,712,698 no coding-synonymous IGFN1 NM_001164586.1 214,945,1124 CC,CT,TT 33.7524,21.604,30.0701 1075/3709 201177246 1373,3193 692 1591 2283 SO:0001819 synonymous_variant AY245430 CCDS53455.1 1q32.1 2013-02-11 ENSG00000163395 ENSG00000163395 91156 Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing 24607 protein-coding gene gene with protein product NA Standard NM_178275 NM_001164586 NA Approved DKFZp434B1231, EEF1A2BP1 uc001gwc.3 Q86VF2 OTTHUMG00000035728 ENST00000335211.4:c.3225T>C chr1.hg19:g.201177246T>C NA F8WAI1|Q9NT72 hg19 CCDS53455.1 0.02 10.588454 TGGxGGC COVERED NOVEL IGFN1-202 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding 0 6.916228 KEEP 0 0 0 23 651 TT 0.999892 0.999892 0 + 14 60 482 0 0 30.519638 277 60 9597 357 ENST00000335211.4 0.04811 1 IGFN1 91156 __UNKNOWN__ __UNKNOWN__ 1 201177278 201177278 __UNKNOWN__ Missense_Mutation SNP C C T rs7551098 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:201177278C>T ENST00000335211.4 + 12 3387 c.3257C>T c.(3256-3258)gCg>gTg p.A1086V IGFN1_ENST00000295591.8_5'UTR|IGFN1_ENST00000451870.2_Intron NM_001164586.1 NP_001158058.1 Q86VF2 IGFN1_HUMAN immunoglobulin-like and fibronectin type III domain containing 1 0 Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}. NA nucleus (GO:0005634)|Z disc (GO:0030018) autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 ACAGGGTCTGCGGGTAGAGGT 0.597 NA T||| 1560 0.311502 0.2065 0.3156 5008 , , NA 17934 0.3105 NA 0.3499 False NA ,,, NA NA NA 2504 0.4121 NA NA NA NA 0 T VAL/ALA 299,1085 33,233,426 38 44 42 3257 -2.4 0 1 dbSNP_116 42 1078,2104 182,714,695 yes missense IGFN1 NM_001164586.1 64 215,947,1121 TT,TC,CC 33.8781,21.604,30.1577 1086/3709 201177278 1377,3189 692 1591 2283 SO:0001583 missense AY245430 CCDS53455.1 1q32.1 2013-02-11 ENSG00000163395 ENSG00000163395 91156 Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing 24607 protein-coding gene gene with protein product NA Standard NM_178275 NM_001164586 NA Approved DKFZp434B1231, EEF1A2BP1 uc001gwc.3 Q86VF2 OTTHUMG00000035728 ENST00000335211.4:c.3257C>T chr1.hg19:g.201177278C>T ENSP00000334714:p.Ala1086Val NA F8WAI1|Q9NT72 hg19 CCDS53455.1 0.02 10.768892 CTGxGGG COVERED 688 0.315018315018315 120 0.24390243902439024 113 0.31215469613259667 190 0.3321678321678322 265 0.3496042216358839 T 6.273 0.418537 0.11870 0.21604 0.338781 ENSG00000163395 ENST00000335211 T 0.41758 0.99 2.91 -2.41 0.06562 . . . . . T 0.00012 0.0000 N 0.08118 0 0.58432 P 1.999999999946489E-6 . . . . . . T 0.43925 -0.9361 5 . . . . 5.7778 0.18289 0.0:0.3916:0.1466:0.4618 rs7551098;rs17423965;rs61522647;rs7551098 . . . V 1086 ENSP00000334714:A1086V . A + 2 0 IGFN1 199443901 0.001000 0.12720 0.000000 0.03702 0.001000 0.01503 0.111000 0.15458 -1.134000 0.02899 -3.813000 0.00019 GCG NOVEL IGFN1-202 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding 1 9.630953 KEEP 0 0 0 32 1108 CC 0.999997 0.999997 0 + 11 60 385 0 0 23.558075 282 60 10000 391 ENST00000335211.4 0.037543 1 IGFN1 91156 __UNKNOWN__ __UNKNOWN__ 1 201177538 201177538 __UNKNOWN__ Missense_Mutation SNP G G T rs7551538 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:201177538G>T ENST00000335211.4 + 12 3647 c.3517G>T c.(3517-3519)Gct>Tct p.A1173S IGFN1_ENST00000295591.8_5'UTR|IGFN1_ENST00000451870.2_Intron NM_001164586.1 NP_001158058.1 Q86VF2 IGFN1_HUMAN immunoglobulin-like and fibronectin type III domain containing 1 0 Ig-like 5. NA nucleus (GO:0005634)|Z disc (GO:0030018) autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 ATGCCCTGGTGCTAAGGCCTC 0.602 NA G||| 1523 0.304113 0.1778 0.3156 5008 , , NA 17585 0.3105 NA 0.3499 False NA ,,, NA NA NA 2504 0.4131 NA NA NA NA 0 G SER/ALA 272,1112 29,214,449 14 13 13 3517 1.2 0 1 dbSNP_116 13 1060,2122 180,700,711 yes missense IGFN1 NM_001164586.1 99 209,914,1160 TT,TG,GG 33.3124,19.6532,29.1721 1173/3709 201177538 1332,3234 692 1591 2283 SO:0001583 missense AY245430 CCDS53455.1 1q32.1 2013-02-11 ENSG00000163395 ENSG00000163395 91156 Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing 24607 protein-coding gene gene with protein product NA Standard NM_178275 NM_001164586 NA Approved DKFZp434B1231, EEF1A2BP1 uc001gwc.3 Q86VF2 OTTHUMG00000035728 ENST00000335211.4:c.3517G>T chr1.hg19:g.201177538G>T ENSP00000334714:p.Ala1173Ser NA F8WAI1|Q9NT72 hg19 CCDS53455.1 0.02 10.893769 GGTxCTA COVERED 671 0.30723443223443225 101 0.20528455284552846 113 0.31215469613259667 191 0.3339160839160839 266 0.35092348284960423 G 14.07 2.426853 0.43020 0.196532 0.333124 ENSG00000163395 ENST00000335211 T 0.58060 0.36 3.18 1.23 0.21249 . . . . . T 0.00012 0.0000 N 0.08118 0 0.58432 P 4.000000000004E-6 . . . . . . T 0.42882 -0.9425 5 . . . . 5.7763 0.18281 0.3891:0.0:0.6109:0.0 rs7551538;rs17457859;rs57716370;rs7551538 . . . S 1173 ENSP00000334714:A1173S . A + 1 0 IGFN1 199444161 0.000000 0.05858 0.003000 0.11579 0.058000 0.15608 -0.079000 0.11357 0.153000 0.19213 0.462000 0.41574 GCT NOVEL IGFN1-202 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding 0 5.718577 KEEP 0 0 0 19 675 GG 0.99986 0.99986 0 + 9 60 332 0 0 20.240029 270 60 9986 346 ENST00000335211.4 0.032258 1 IGFN1 91156 __UNKNOWN__ __UNKNOWN__ 1 201178470 201178470 __UNKNOWN__ Silent SNP G G A rs12757706 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:201178470G>A ENST00000335211.4 + 12 4579 c.4449G>A c.(4447-4449)agG>agA p.R1483R IGFN1_ENST00000295591.8_5'UTR|IGFN1_ENST00000451870.2_Intron NM_001164586.1 NP_001158058.1 Q86VF2 IGFN1_HUMAN immunoglobulin-like and fibronectin type III domain containing 1 0 NA nucleus (GO:0005634)|Z disc (GO:0030018) autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 GTGGTTTAAGGGGTTCTGGGG 0.502 NA G||| 1523 0.304113 0.1755 0.3141 5008 , , NA 16820 0.3095 NA 0.3499 False NA ,,, NA NA NA 2504 0.4182 NA NA NA NA 0 33 31 31 NA NA 1 NA 201178470 692 1591 2283 SO:0001819 synonymous_variant AY245430 CCDS53455.1 1q32.1 2013-02-11 ENSG00000163395 ENSG00000163395 91156 Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing 24607 protein-coding gene gene with protein product NA Standard NM_178275 NM_001164586 NA Approved DKFZp434B1231, EEF1A2BP1 uc001gwc.3 Q86VF2 OTTHUMG00000035728 ENST00000335211.4:c.4449G>A chr1.hg19:g.201178470G>A NA F8WAI1|Q9NT72 hg19 CCDS53455.1 0.02 6.939045 AAGxGGT COVERED NOVEL IGFN1-202 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding 1 6.922239 KEEP 0 0 0 23 803 GG 0.999892 0.999892 0 + 6 60 226 0 0 14.510321 145 60 5284 218 ENST00000335211.4 0.039735 1 IGFN1 91156 __UNKNOWN__ __UNKNOWN__ 1 201179163 201179163 __UNKNOWN__ Silent SNP G G A rs374328772 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:201179163G>A ENST00000335211.4 + 12 5272 c.5142G>A c.(5140-5142)ttG>ttA p.L1714L IGFN1_ENST00000295591.8_5'UTR|IGFN1_ENST00000451870.2_Intron NM_001164586.1 NP_001158058.1 Q86VF2 IGFN1_HUMAN immunoglobulin-like and fibronectin type III domain containing 1 0 NA nucleus (GO:0005634)|Z disc (GO:0030018) autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 GGAAGGATTTGGGGGCTCCTG 0.498 NA -||| 6 0.00119808 0.003 0.0 5008 , , NA 6464 0.001 NA 0.001 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 5 4 4 NA NA 1 NA 201179163 649 1476 2125 SO:0001819 synonymous_variant AY245430 CCDS53455.1 1q32.1 2013-02-11 ENSG00000163395 ENSG00000163395 91156 Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing 24607 protein-coding gene gene with protein product NA Standard NM_178275 NM_001164586 NA Approved DKFZp434B1231, EEF1A2BP1 uc001gwc.3 Q86VF2 OTTHUMG00000035728 ENST00000335211.4:c.5142G>A chr1.hg19:g.201179163G>A NA F8WAI1|Q9NT72 hg19 CCDS53455.1 0.02 4.38089 TTTxGGG UNCOVERED NOVEL IGFN1-202 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding 2 5.116732 KEEP 101 0 0 17 604 GG 0 0 0 + 5 39 183 0 0 12.301701 85 48 3091 239 ENST00000335211.4 0.055556 0.999973 IGFN1 91156 __UNKNOWN__ __UNKNOWN__ 1 201181217 201181217 __UNKNOWN__ Missense_Mutation SNP A A G rs12070918 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:201181217A>G ENST00000335211.4 + 12 7326 c.7196A>G c.(7195-7197)gAc>gGc p.D2399G IGFN1_ENST00000295591.8_5'UTR|IGFN1_ENST00000451870.2_Intron NM_001164586.1 NP_001158058.1 Q86VF2 IGFN1_HUMAN immunoglobulin-like and fibronectin type III domain containing 1 0 NA nucleus (GO:0005634)|Z disc (GO:0030018) autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 TCAGAGGGTGACACGAACTCC 0.587 NA g||| 1626 0.324681 0.2504 0.317 5008 , , NA 19262 0.3105 NA 0.3499 False NA ,,, NA NA NA 2504 0.4192 NA NA NA NA 0 GLY/ASP 362,1022 47,268,377 36 31 33 7196 1.5 0 1 dbSNP_120 33 1074,2108 181,712,698 yes missense IGFN1 NM_001164586.1 94 228,980,1075 GG,GA,AA 33.7524,26.1561,31.4498 2399/3709 201181217 1436,3130 692 1591 2283 SO:0001583 missense AY245430 CCDS53455.1 1q32.1 2013-02-11 ENSG00000163395 ENSG00000163395 91156 Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing 24607 protein-coding gene gene with protein product NA Standard NM_178275 NM_001164586 NA Approved DKFZp434B1231, EEF1A2BP1 uc001gwc.3 Q86VF2 OTTHUMG00000035728 ENST00000335211.4:c.7196A>G chr1.hg19:g.201181217A>G ENSP00000334714:p.Asp2399Gly NA F8WAI1|Q9NT72 hg19 CCDS53455.1 0.02 13.700431 GTGxCAC COVERED 704 0.32234432234432236 134 0.27235772357723576 114 0.3149171270718232 191 0.3339160839160839 265 0.3496042216358839 g 2.880 -0.232116 0.05983 0.261561 0.337524 ENSG00000163395 ENST00000335211 T 0.58358 0.34 1.53 1.53 0.23141 . . . . . T 0.00012 0.0000 N 0.08118 0 0.50632 P 1.1799999999995148E-4 . . . . . . T 0.43294 -0.9400 5 . . . . 7.0609 0.25125 0.2775:0.0:0.7225:0.0 rs12070918;rs12070918 . . . G 2399 ENSP00000334714:D2399G . D + 2 0 IGFN1 199447840 0.000000 0.05858 0.006000 0.13384 0.050000 0.14768 -0.052000 0.11865 0.210000 0.20664 -0.747000 0.03512 GAC NOVEL IGFN1-202 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding 1 9.6279 KEEP 0 0 0 32 981 AA 0.999997 0.999997 0 + 11 60 410 0 0 25.100574 334 60 11687 437 ENST00000335211.4 0.031884 1 IGFN1 91156 __UNKNOWN__ __UNKNOWN__ 1 201181994 201181994 __UNKNOWN__ Missense_Mutation SNP A A G rs6688782 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:201181994A>G ENST00000335211.4 + 12 8103 c.7973A>G c.(7972-7974)gAt>gGt p.D2658G IGFN1_ENST00000295591.8_5'UTR|IGFN1_ENST00000451870.2_Intron NM_001164586.1 NP_001158058.1 Q86VF2 IGFN1_HUMAN immunoglobulin-like and fibronectin type III domain containing 1 0 NA nucleus (GO:0005634)|Z disc (GO:0030018) autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 CAGGAGAAAGATGCCGCTTTT 0.617 NA a||| 787 0.157149 0.3608 0.0706 5008 , , NA 16734 0.1042 NA 0.0149 False NA ,,, NA NA NA 2504 0.1442 NA NA NA NA 0 GLY/ASP 441,943 68,305,319 13 15 15 7973 -0.3 0 1 dbSNP_116 15 36,3146 0,36,1555 yes missense IGFN1 NM_001164586.1 94 68,341,1874 GG,GA,AA 1.1314,31.8642,10.4468 2658/3709 201181994 477,4089 692 1591 2283 SO:0001583 missense AY245430 CCDS53455.1 1q32.1 2013-02-11 ENSG00000163395 ENSG00000163395 91156 Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing 24607 protein-coding gene gene with protein product NA Standard NM_178275 NM_001164586 NA Approved DKFZp434B1231, EEF1A2BP1 uc001gwc.3 Q86VF2 OTTHUMG00000035728 ENST00000335211.4:c.7973A>G chr1.hg19:g.201181994A>G ENSP00000334714:p.Asp2658Gly NA F8WAI1|Q9NT72 hg19 CCDS53455.1 0.02 9.155074 AAGxTGC COVERED 223 0.1021062271062271 141 0.2865853658536585 19 0.052486187845303865 54 0.0944055944055944 9 0.011873350923482849 a 9.758 1.169329 0.21621 0.318642 0.011314 ENSG00000163395 ENST00000335211 T 0.54479 0.57 3.66 -0.354 0.12591 . . . . . T 0.00012 0.0000 N 0.08118 0 0.58432 P 1.0000000000287557E-6 . . . . . . T 0.32640 -0.9899 6 0.87932 D 0 . 4.1373 0.10178 0.5229:0.178:0.299:0.0 rs6688782;rs59640720;rs6688782 . . . G 2658 ENSP00000334714:D2658G ENSP00000334714:D2658G D + 2 0 IGFN1 199448617 0.000000 0.05858 0.000000 0.03702 0.004000 0.04260 0.248000 0.18198 -0.112000 0.11979 0.255000 0.18592 GAT NOVEL IGFN1-202 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding 1 7.809652 KEEP 0 0 0 26 799 AA 0.999957 0.999957 0 + 13 60 476 0 0 31.888182 226 60 8100 320 ENST00000335211.4 0.054393 1 IGFN1 91156 __UNKNOWN__ __UNKNOWN__ 1 201182779 201182779 __UNKNOWN__ Intron SNP A A G rs2282413 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:201182779A>G ENST00000335211.4 + 12 8858 IGFN1_ENST00000295591.8_Intron|IGFN1_ENST00000451870.2_Intron NM_001164586.1 NP_001158058.1 Q86VF2 IGFN1_HUMAN immunoglobulin-like and fibronectin type III domain containing 1 NA NA nucleus (GO:0005634)|Z disc (GO:0030018) autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 GCTGGCTCCCATGGGCTAGAG 0.602 NA A||| 1537 0.306909 0.1853 0.3141 5008 , , NA 17078 0.3095 NA 0.3499 False NA ,,, NA NA NA 2504 0.4192 NA NA NA NA 0 A 941,3465 357.6+/-314.0 97,747,1359 37 34 35 -5.8 0 1 dbSNP_100 35 2873,5727 446.3+/-361.2 495,1883,1922 no intron IGFN1 NM_001164586.1 592,2630,3281 GG,GA,AA 33.407,21.3572,29.3249 201182779 3814,9192 2203 4300 6503 SO:0001627 intron_variant AY245430 CCDS53455.1 1q32.1 2013-02-11 ENSG00000163395 ENSG00000163395 91156 Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing 24607 protein-coding gene gene with protein product NA Standard NM_178275 NM_001164586 NA Approved DKFZp434B1231, EEF1A2BP1 uc001gwc.3 Q86VF2 OTTHUMG00000035728 ENST00000335211.4:c.8728+30A>G chr1.hg19:g.201182779A>G NA F8WAI1|Q9NT72 hg19 CCDS53455.1 0.02 8.378345 CCCxTGG COVERED NOVEL IGFN1-202 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding 0 3.907644 KEEP 0 0 0 13 365 AA 0.994391 0.994391 0 + 12 60 445 0 0 29.885934 213 60 7727 261 ENST00000335211.4 0.053333 1 IGFN1 91156 __UNKNOWN__ __UNKNOWN__ 1 201197676 201197676 __UNKNOWN__ 3'UTR SNP G G A rs3738274 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:201197676G>A ENST00000335211.4 + 0 11406 IGFN1_ENST00000295591.8_3'UTR NM_001164586.1 NP_001158058.1 Q86VF2 IGFN1_HUMAN immunoglobulin-like and fibronectin type III domain containing 1 NA NA nucleus (GO:0005634)|Z disc (GO:0030018) autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 TTTTGGCCAGGAGGACGTGAA 0.572 NA G||| 519 0.103634 0.3434 0.0418 5008 , , NA 19943 0.0238 NA 0.002 False NA ,,, NA NA NA 2504 0.0102 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY245430 CCDS53455.1 1q32.1 2013-02-11 ENSG00000163395 ENSG00000163395 91156 Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing 24607 protein-coding gene gene with protein product NA Standard NM_178275 NM_001164586 NA Approved DKFZp434B1231, EEF1A2BP1 uc001gwc.3 Q86VF2 OTTHUMG00000035728 ENST00000335211.4:c.*149G>A chr1.hg19:g.201197676G>A NA F8WAI1|Q9NT72 hg19 CCDS53455.1 0.02 11.771056 CAGxAGG COVERED NOVEL IGFN1-202 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding 2 6.620481 KEEP 0 0 0 22 731 GG 0.999879 0.999879 0 + 11 60 382 0 0 22.579423 315 60 11559 368 ENST00000335211.4 0.033742 1 IGFN1 91156 __UNKNOWN__ __UNKNOWN__ 1 201197808 201197808 __UNKNOWN__ 3'UTR SNP T T A rs12466 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:201197808T>A ENST00000335211.4 + 0 11538 IGFN1_ENST00000295591.8_3'UTR NM_001164586.1 NP_001158058.1 Q86VF2 IGFN1_HUMAN immunoglobulin-like and fibronectin type III domain containing 1 NA NA nucleus (GO:0005634)|Z disc (GO:0030018) autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 TCTTCTTCGCTTCAGGAGATC 0.587 NA T||| 1846 0.36861 0.152 0.3876 5008 , , NA 18846 0.495 NA 0.4036 False NA ,,, NA NA NA 2504 0.4816 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY245430 CCDS53455.1 1q32.1 2013-02-11 ENSG00000163395 ENSG00000163395 91156 Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing 24607 protein-coding gene gene with protein product NA Standard NM_178275 NM_001164586 NA Approved DKFZp434B1231, EEF1A2BP1 uc001gwc.3 Q86VF2 OTTHUMG00000035728 ENST00000335211.4:c.*281T>A chr1.hg19:g.201197808T>A NA F8WAI1|Q9NT72 hg19 CCDS53455.1 0.02 8.187293 CGCxTCA COVERED NOVEL IGFN1-202 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding 2 6.61928 KEEP 0 0 0 22 696 TT 0.999879 0.999879 0 + 10 60 358 0 0 22.832954 214 60 7842 285 ENST00000335211.4 0.044643 1 TNNI1 7135 __UNKNOWN__ __UNKNOWN__ 1 201386916 201386916 __UNKNOWN__ Silent SNP C C T rs3738286 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:201386916C>T ENST00000361379.4 - 2 98 c.6G>A c.(4-6)ccG>ccA p.P2P TNNI1_ENST00000555948.1_Silent_p.P2P|TNNI1_ENST00000336092.4_Silent_p.P2P|TNNI1_ENST00000367312.1_Silent_p.P2P NM_003281.3 NP_003272.3 P19237 TNNI1_HUMAN troponin I type 1 (skeletal, slow) 2 Involved in binding TNC. NA muscle filament sliding (GO:0030049)|regulation of striated muscle contraction (GO:0006942)|ventricular cardiac muscle tissue morphogenesis (GO:0055010) cytosol (GO:0005829)|troponin complex (GO:0005861) metal ion binding (GO:0046872) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1) 8 CTTACACTTCCGGCATGGTGG 0.597 NA C||| 427 0.0852636 0.0015 0.0331 5008 , , NA 17861 0.122 NA 0.0527 False NA ,,, NA NA NA 2504 0.2311 NA NA NA NA 0 C 34,4372 40.8+/-73.8 0,34,2169 53 48 50 6 -2.6 1 1 dbSNP_107 50 335,8265 114.8+/-174.7 12,311,3977 yes coding-synonymous TNNI1 NM_003281.3 12,345,6146 TT,TC,CC 3.8953,0.7717,2.8372 2/188 201386916 369,12637 2203 4300 6503 SO:0001819 synonymous_variant BC012600 CCDS1411.1 1q31.3 2008-02-05 2005-09-12 ENSG00000159173 ENSG00000159173 7135 11945 protein-coding gene gene with protein product 191042 troponin I, skeletal, slow NA 2365354, 8144655 Standard NM_003281 NM_003281 NA Approved uc021phd.1 P19237 OTTHUMG00000035736 ENST00000361379.4:c.6G>A chr1.hg19:g.201386916C>T NA A6NEH3|A8MSJ0|Q659A5|Q6FGS7|Q6FGW1|Q6ICU2|Q86T57|Q96DT9 hg19 CCDS1411.1 0.02 15.609505 TTCxGGC COVERED NOVEL TNNI1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000087001.1 2 14.14493 KEEP 0 0 0 47 1609 CC 1 1 0 - 11 60 417 0 0 25.369799 366 60 12926 515 ENST00000361379.4 0.029178 1 NAV1 89796 __UNKNOWN__ __UNKNOWN__ 1 201777568 201777568 __UNKNOWN__ Missense_Mutation SNP C C G rs2292822 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:201777568C>G ENST00000367302.1 + 19 3961 c.3727C>G c.(3727-3729)Cac>Gac p.H1243D NAV1_ENST00000367297.4_Missense_Mutation_p.H1282D|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367296.4_Missense_Mutation_p.H1290D|NAV1_ENST00000295624.6_Missense_Mutation_p.H1287D|NAV1_ENST00000367300.3_Missense_Mutation_p.H1230D|NAV1_ENST00000367295.1_Missense_Mutation_p.H896D Q8NEY1 NAV1_HUMAN neuron navigator 1 1290 NA microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764) cytoplasm (GO:0005737)|microtubule (GO:0005874) p.H1287D(1) breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2) 70 CCCAGCCCCCCACACTAGGCT 0.517 NA c||| 284 0.0567093 0.0 0.0058 5008 , , NA 21074 0.248 NA 0.005 False NA ,,, NA NA NA 2504 0.0256 NA NA NA NA 1 Substitution - Missense(1) stomach(1) ASP/HIS,ASP/HIS 8,4398 14.3+/-33.2 0,8,2195 39 39 39 2686,3868 5.5 0.9 1 dbSNP_100 39 28,8572 18.5+/-59.3 0,28,4272 yes missense,missense NAV1 NM_001167738.1,NM_020443.4 81,81 0,36,6467 GG,GC,CC 0.3256,0.1816,0.2768 benign,benign 896/1484,1290/1878 201777568 36,12970 2203 4300 6503 SO:0001583 missense AF086348 CCDS1414.1, CCDS1414.2, CCDS53456.1 1q32.3 2008-07-18 ENSG00000134369 ENSG00000134369 89796 15989 protein-coding gene gene with protein product neuron navigator-1, pore membrane and/or filament interacting like protein 3 611628 NA 12079279, 12062803 Standard NM_020443 NM_020443 NA Approved FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314 uc001gwu.3 Q8NEY1 OTTHUMG00000035766 ENST00000367302.1:c.3727C>G chr1.hg19:g.201777568C>G ENSP00000356271:p.His1243Asp NA A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9 hg19 0.02 4.335244 CCCxACA COVERED 128 0.05860805860805861 0 0.0 1 0.0027624309392265192 121 0.21153846153846154 6 0.0079155672823219 c 11.29 1.594908 0.28445 0.001816 0.003256 ENSG00000134369 ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300;ENST00000367295 T;T;T;T;T;T 0.06687 3.29;3.27;3.28;3.28;3.29;3.28 5.53 5.53 0.82687 . 0.401005 0.24725 N 0.036107 T 0.00012 0.0000 N 0.14661 0.345 0.80722 P 0.0 B;B 0.19817 0.039;0.0 B;B 0.19391 0.025;0.0 T 0.46034 -0.9220 9 0.11182 T 0.66 -28.5851 8.9712 0.35908 0.0:0.8683:0.0:0.1317 rs2292822;rs2292822 896;1287 Q8NEY1-5;Q8NEY1-3 .;. D 1243;1290;1287;1282;1230;896 ENSP00000356271:H1243D;ENSP00000356265:H1290D;ENSP00000295624:H1287D;ENSP00000356266:H1282D;ENSP00000356269:H1230D;ENSP00000356264:H896D ENSP00000295624:H1287D H + 1 0 NAV1 200044191 0.000000 0.05858 0.946000 0.38457 0.688000 0.40055 0.032000 0.13732 2.608000 0.88229 0.502000 0.49764 CAC NOVEL NAV1-006 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000087018.1 1 4.514455 KEEP 0 0 0 15 510 CC 0.99649 0.99649 0 + 5 60 177 0 0 10.888094 125 60 4538 160 ENST00000367302.1 0.038462 1 NAV1 89796 __UNKNOWN__ __UNKNOWN__ 1 201788804 201788804 __UNKNOWN__ Intron SNP G G A rs11803449 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:201788804G>A ENST00000367302.1 + 30 5631 NAV1_ENST00000367297.4_Intron|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367296.4_Intron|IPO9-AS1_ENST00000421449.1_RNA|NAV1_ENST00000295624.6_Intron|NAV1_ENST00000367300.3_Intron|NAV1_ENST00000367295.1_Intron Q8NEY1 NAV1_HUMAN neuron navigator 1 NA NA microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764) cytoplasm (GO:0005737)|microtubule (GO:0005874) breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2) 70 gtagagtcagggtctctcttt 0.448 NA G||| 1377 0.27496 0.27 0.1931 5008 , , NA 17788 0.3552 NA 0.3101 False NA ,,, NA NA NA 2504 0.2209 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF086348 CCDS1414.1, CCDS1414.2, CCDS53456.1 1q32.3 2008-07-18 ENSG00000134369 ENSG00000134369 89796 15989 protein-coding gene gene with protein product neuron navigator-1, pore membrane and/or filament interacting like protein 3 611628 NA 12079279, 12062803 Standard NM_020443 NM_020443 NA Approved FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314 uc001gwu.3 Q8NEY1 OTTHUMG00000035766 ENST00000367302.1:c.5398-161G>A chr1.hg19:g.201788804G>A NA A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9 hg19 0.02 2.029828 CAGxGTC COVERED NOVEL NAV1-006 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000087018.1 4 2.407611 KEEP 0 0 0 8 268 GG 0.99257 0.991047 0 + 6 60 222 0 0 15.984618 69 60 2396 84 ENST00000367302.1 0.08 0.998465 NAV1 89796 __UNKNOWN__ __UNKNOWN__ 1 201790239 201790239 __UNKNOWN__ 3'UTR SNP A A G rs2016475 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:201790239A>G ENST00000367302.1 + 0 6906 IPO9-AS1_ENST00000421159.1_RNA|NAV1_ENST00000367297.4_3'UTR|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367296.4_3'UTR|IPO9-AS1_ENST00000421449.1_RNA|NAV1_ENST00000295624.6_3'UTR|NAV1_ENST00000367300.3_3'UTR|NAV1_ENST00000367295.1_3'UTR Q8NEY1 NAV1_HUMAN neuron navigator 1 NA NA microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764) cytoplasm (GO:0005737)|microtubule (GO:0005874) breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2) 70 ATGAGAAGGTATAGCCCCATC 0.478 NA A||| 908 0.18131 0.202 0.1671 5008 , , NA 19120 0.0833 NA 0.2922 False NA ,,, NA NA NA 2504 0.1503 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF086348 CCDS1414.1, CCDS1414.2, CCDS53456.1 1q32.3 2008-07-18 ENSG00000134369 ENSG00000134369 89796 15989 protein-coding gene gene with protein product neuron navigator-1, pore membrane and/or filament interacting like protein 3 611628 NA 12079279, 12062803 Standard NM_020443 NM_020443 NA Approved FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314 uc001gwu.3 Q8NEY1 OTTHUMG00000035766 ENST00000367302.1:c.*1179A>G chr1.hg19:g.201790239A>G NA A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9 hg19 0.02 8.874056 GGTxTAG COVERED NOVEL NAV1-006 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000087018.1 1 10.529899 KEEP 0 0 0 35 1064 AA 0.999999 0.999999 0 + 8 60 299 0 0 18.895742 206 60 7396 310 ENST00000367302.1 0.037383 1 NAV1 89796 __UNKNOWN__ __UNKNOWN__ 1 201790270 201790270 __UNKNOWN__ 3'UTR SNP A A G rs1022361 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:201790270A>G ENST00000367302.1 + 0 6937 IPO9-AS1_ENST00000421159.1_RNA|NAV1_ENST00000367297.4_3'UTR|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367296.4_3'UTR|IPO9-AS1_ENST00000421449.1_RNA|NAV1_ENST00000295624.6_3'UTR|NAV1_ENST00000367300.3_3'UTR|NAV1_ENST00000367295.1_3'UTR Q8NEY1 NAV1_HUMAN neuron navigator 1 NA NA microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764) cytoplasm (GO:0005737)|microtubule (GO:0005874) breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2) 70 AGTTACTCCGAGCTTTATCAT 0.473 NA A||| 1695 0.338458 0.5038 0.2032 5008 , , NA 19206 0.3552 NA 0.3111 False NA ,,, NA NA NA 2504 0.2219 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF086348 CCDS1414.1, CCDS1414.2, CCDS53456.1 1q32.3 2008-07-18 ENSG00000134369 ENSG00000134369 89796 15989 protein-coding gene gene with protein product neuron navigator-1, pore membrane and/or filament interacting like protein 3 611628 NA 12079279, 12062803 Standard NM_020443 NM_020443 NA Approved FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314 uc001gwu.3 Q8NEY1 OTTHUMG00000035766 ENST00000367302.1:c.*1210A>G chr1.hg19:g.201790270A>G NA A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9 hg19 0.02 5.575827 CCGxGCT COVERED NOVEL NAV1-006 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000087018.1 1 8.426204 KEEP 0 0 0 28 911 AA 0.999997 0.999997 0 + 8 60 274 0 0 17.218976 162 60 5972 237 ENST00000367302.1 0.047059 1 IPO9 55705 __UNKNOWN__ __UNKNOWN__ 1 201840210 201840210 __UNKNOWN__ Intron SNP T T C rs950114 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:201840210T>C ENST00000361565.4 + 19 2478 NM_018085.4 NP_060555.2 Q96P70 IPO9_HUMAN importin 9 NA NA protein import into nucleus (GO:0006606) cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634) histone binding (GO:0042393)|protein transporter activity (GO:0008565) cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 38 GTATTTCTTATCTGACTGGCC 0.438 NA T||| 402 0.0802716 0.0189 0.0245 5008 , , NA 19823 0.2708 NA 0.0179 False NA ,,, NA NA NA 2504 0.0706 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF410465 CCDS1415.1 1q31.3 2008-02-05 ENSG00000198700 ENSG00000198700 55705 Importins 19425 protein-coding gene gene with protein product NA 11823430, 10574461 Standard NM_018085 NM_018085 NA Approved Imp9, FLJ10402 uc001gwz.3 Q96P70 OTTHUMG00000035805 ENST00000361565.4:c.2410-79T>C chr1.hg19:g.201840210T>C NA B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8 hg19 CCDS1415.1 0.02 3.906254 TTAxCTG COVERED NOVEL IPO9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000087088.1 1 6.618411 KEEP 0 0 0 22 649 TT 0.999879 0.999878 0 + 5 60 183 0 0 11.625901 117 60 4247 153 ENST00000361565.4 0.040984 0.999999 IPO9 55705 __UNKNOWN__ __UNKNOWN__ 1 201850726 201850726 __UNKNOWN__ 3'UTR SNP G G A rs41310122 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:201850726G>A ENST00000361565.4 + 0 8739 NM_018085.4 NP_060555.2 Q96P70 IPO9_HUMAN importin 9 NA NA protein import into nucleus (GO:0006606) cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634) histone binding (GO:0042393)|protein transporter activity (GO:0008565) cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 38 aaggacaagtggggggcagat 0.423 NA G||| 12 0.00239617 0.0 0.0072 5008 , , NA 21744 0.0 NA 0.004 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF410465 CCDS1415.1 1q31.3 2008-02-05 ENSG00000198700 ENSG00000198700 55705 Importins 19425 protein-coding gene gene with protein product NA 11823430, 10574461 Standard NM_018085 NM_018085 NA Approved Imp9, FLJ10402 uc001gwz.3 Q96P70 OTTHUMG00000035805 ENST00000361565.4:c.*5544G>A chr1.hg19:g.201850726G>A NA B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8 hg19 CCDS1415.1 0.02 3.786854 AGTxGGG COVERED NOVEL IPO9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000087088.1 0 7.524529 KEEP 0 0 0 25 882 GG 0.999931 0.999931 0 + 7 60 220 0 0 13.191766 140 60 5262 205 ENST00000361565.4 0.047619 1 RNPEP 6051 __UNKNOWN__ __UNKNOWN__ 1 201966774 201966774 __UNKNOWN__ Intron SNP T T C rs10920300 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:201966774T>C ENST00000295640.4 + 5 1133 RNPEP_ENST00000367286.3_Intron|RNPEP_ENST00000471105.1_Intron NM_020216.3 NP_064601.3 Q9H4A4 AMPB_HUMAN arginyl aminopeptidase (aminopeptidase B) NA NA leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508) extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886) aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270) breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005) AGAATACAAGTGGGTGTGAAG 0.433 NA T||| 711 0.141973 0.0817 0.2896 5008 , , NA 18607 0.1845 NA 0.1561 False NA ,,, NA NA NA 2504 0.0603 NA NA NA GBM(19;39 479 7473 13131 19462) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC001064 CCDS1418.1 1q32 2008-02-05 ENSG00000176393 ENSG00000176393 6051 3.4.11.6 10078 protein-coding gene gene with protein product 602675 NA 9533033, 10467730 Standard NM_020216 NM_020216 NA Approved uc001gxd.3 Q9H4A4 OTTHUMG00000035866 ENST00000295640.4:c.1090+92T>C chr1.hg19:g.201966774T>C NA Q9BVM9|Q9H1D4|Q9NPT7 hg19 CCDS1418.1 0.02 1.543389 AAGxGGG COVERED NOVEL RNPEP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000087345.1 2 3.909855 KEEP 0 0 0 13 373 TT 0.994391 0.994015 0 + 4 60 130 0 0 7.910161 81 60 2910 104 ENST00000295640.4 0.047059 0.999622 ELF3 1999 __UNKNOWN__ __UNKNOWN__ 1 201978197 201978197 __UNKNOWN__ 5'UTR SNP G G A rs3928727 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:201978197G>A ENST00000359651.3 + 0 1125 RP11-465N4.4_ENST00000419190.1_RNA E74-like factor 3 (ets domain transcription factor, epithelial-specific ) NA NA breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 20 caacctgggcgacagagcgag 0.453 NA G||| 581 0.116014 0.146 0.0764 5008 , , NA 17915 0.0972 NA 0.17 False NA ,,, NA NA NA 2504 0.0675 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF016295 CCDS1419.1 1q32.2 2008-02-05 ENSG00000163435 ENSG00000163435 1999 3318 protein-coding gene gene with protein product 602191 ESX NA 9395241, 9129154 Standard NM_004433 NM_001114309 NA Approved EPR-1, ESE-1, ERT uc001gxh.4 P78545 OTTHUMG00000035867 ENST00000359651.3:c.-2068G>A chr1.hg19:g.201978197G>A NA hg19 CCDS1419.1 0.02 -0.403445 GGCxACA COVERED NOVEL ELF3-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000087360.1 4 4.648595 KEEP 0 1 30 26 870 GG 0.999988 0.934481 0 + 7 60 264 0 0 21.222062 39 60 1324 85 ENST00000359651.3 0.152174 0.934492 ELF3 1999 __UNKNOWN__ __UNKNOWN__ 1 201985731 201985731 __UNKNOWN__ 3'UTR SNP G G A rs1130193 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:201985731G>A ENST00000367284.5 + 0 2594 NM_001114309.1|NM_004433.4 NP_001107781.1|NP_004424.3 E74-like factor 3 (ets domain transcription factor, epithelial-specific ) NA NA breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 20 TGTTGAAAGTGTAGTCTTTTT 0.343 NA A||| 3135 0.625998 0.7413 0.7392 5008 , , NA 20565 0.4643 NA 0.667 False NA ,,, NA NA NA 2504 0.5143 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF016295 CCDS1419.1 1q32.2 2008-02-05 ENSG00000163435 ENSG00000163435 1999 3318 protein-coding gene gene with protein product 602191 ESX NA 9395241, 9129154 Standard NM_004433 NM_001114309 NA Approved EPR-1, ESE-1, ERT uc001gxh.4 P78545 OTTHUMG00000035867 ENST00000367284.5:c.*1280G>A chr1.hg19:g.201985731G>A NA hg19 CCDS1419.1 0.02 4.267262 AGTxTAG COVERED NOVEL ELF3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000087358.1 2 6.01903 KEEP 0 0 0 20 688 GG 0.999863 0.999859 0 + 8 60 297 0 0 20.909775 107 70 3830 160 ENST00000367284.5 0.069565 0.999997 LGR6 59352 __UNKNOWN__ __UNKNOWN__ 1 202163621 202163621 __UNKNOWN__ Intron SNP G G A rs3120747 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:202163621G>A ENST00000367278.3 + 1 301 NM_001017403.1 NP_001017403.1 Q9HBX8 LGR6_HUMAN leucine-rich repeat containing G protein-coupled receptor 6 NA NA G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055) integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982) transmembrane signaling receptor activity (GO:0004888) breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 36 TGGACCCTGAGCGGGAGGGCG 0.632 NA G||| 1429 0.285343 0.202 0.3156 5008 , , NA 12907 0.2331 NA 0.3966 False NA ,,, NA NA NA 2504 0.316 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF190501 CCDS1424.1, CCDS30971.1, CCDS30972.1 1q32.1 2012-08-21 2011-01-25 ENSG00000133067 ENSG00000133067 59352 GPCR / Class A : Orphans 19719 protein-coding gene gene with protein product 606653 leucine-rich repeat-containing G protein-coupled receptor 6 NA 10935549 Standard NM_021636 XM_005245404 NA Approved FLJ14471 uc001gxu.3 Q9HBX8 OTTHUMG00000041383 ENST00000367278.3:c.212+292G>A chr1.hg19:g.202163621G>A NA Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7 hg19 CCDS30971.1 0.02 12.181158 TGAxCGG COVERED NOVEL LGR6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000099143.1 0 24.681008 KEEP 0 0 0 82 2997 GG 1 1 0 + 12 60 386 0 0 22.789571 290 60 11163 517 ENST00000367278.3 0.039735 1 LGR6 59352 __UNKNOWN__ __UNKNOWN__ 1 202183308 202183308 __UNKNOWN__ Intron SNP C C T rs10920362 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:202183308C>T ENST00000367278.3 + 2 301 LGR6_ENST00000255432.7_Intron|LGR6_ENST00000439764.2_Missense_Mutation_p.S9L NM_001017403.1 NP_001017403.1 Q9HBX8 LGR6_HUMAN leucine-rich repeat containing G protein-coupled receptor 6 NA NA G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055) integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982) transmembrane signaling receptor activity (GO:0004888) breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 36 GAGGGCCGCTCAGCGAGGGCG 0.697 NA T||| 2005 0.400359 0.472 0.4366 5008 , , NA 11015 0.3095 NA 0.4791 False NA ,,, NA NA NA 2504 0.2904 NA NA NA NA 0 T ,LEU/SER, 2028,2338 478,1072,633 14 15 15 ,26, -2.7 0 1 dbSNP_120 15 3918,4670 919,2080,1295 no intron,missense,intron LGR6 NM_001017403.1,NM_001017404.1,NM_021636.2 ,145, 1397,3152,1928 TT,TC,CC 45.6218,46.4498,45.9009 ,, ,9/829, 202183308 5946,7008 2183 4294 6477 SO:0001627 intron_variant AF190501 CCDS1424.1, CCDS30971.1, CCDS30972.1 1q32.1 2012-08-21 2011-01-25 ENSG00000133067 ENSG00000133067 59352 GPCR / Class A : Orphans 19719 protein-coding gene gene with protein product 606653 leucine-rich repeat-containing G protein-coupled receptor 6 NA 10935549 Standard NM_021636 XM_005245404 NA Approved FLJ14471 uc001gxu.3 Q9HBX8 OTTHUMG00000041383 ENST00000367278.3:c.213-11243C>T chr1.hg19:g.202183308C>T NA Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7 hg19 CCDS30971.1 0.02 4.029079 GCTxAGC COVERED 927 0.42445054945054944 249 0.5060975609756098 172 0.47513812154696133 152 0.26573426573426573 354 0.46701846965699206 T 4.644 0.119782 0.08881 0.464498 0.456218 ENSG00000133067 ENST00000439764 T 0.52295 0.67 1.99 -2.73 0.05950 . . . . . T 0.00012 0.0000 . . . 0.80722 P 0.0 B 0.10296 0.003 B 0.04013 0.001 T 0.44298 -0.9337 7 0.66056 D 0.02 . 3.838 0.08902 0.1722:0.4257:0.0:0.402 rs10920362;rs60483425;rs10920362 9 Q9HBX8-1 . L 9 ENSP00000387869:S9L ENSP00000387869:S9L S + 2 0 LGR6 200449931 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -2.816000 0.00752 -1.333000 0.02247 -2.879000 0.00098 TCA NOVEL LGR6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000099143.1 1 6.155096 KEEP 0 1 33 32 1123 CC 0.999998 0.999988 0 + 7 60 232 0 0 15.292533 101 60 3832 172 ENST00000367278.3 0.064815 0.999991 LGR6 59352 __UNKNOWN__ __UNKNOWN__ 1 202197161 202197161 __UNKNOWN__ Intron SNP C C T rs3795598 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:202197161C>T ENST00000367278.3 + 3 445 LGR6_ENST00000255432.7_Intron|LGR6_ENST00000439764.2_Intron NM_001017403.1 NP_001017403.1 Q9HBX8 LGR6_HUMAN leucine-rich repeat containing G protein-coupled receptor 6 NA NA G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055) integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982) transmembrane signaling receptor activity (GO:0004888) breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 36 CCTCATTTTACATAGAGCTGC 0.428 NA C||| 1247 0.249002 0.1006 0.2666 5008 , , NA 19667 0.251 NA 0.4235 False NA ,,, NA NA NA 2504 0.2556 NA NA NA NA 0 C ,, 622,3784 270.1+/-269.4 60,502,1641 98 80 86 ,, 4.8 0 1 dbSNP_107 86 3488,5112 510.1+/-377.4 719,2050,1531 no intron,intron,intron LGR6 NM_001017403.1,NM_001017404.1,NM_021636.2 ,, 779,2552,3172 TT,TC,CC 40.5581,14.1171,31.6008 ,, ,, 202197161 4110,8896 2203 4300 6503 SO:0001627 intron_variant AF190501 CCDS1424.1, CCDS30971.1, CCDS30972.1 1q32.1 2012-08-21 2011-01-25 ENSG00000133067 ENSG00000133067 59352 GPCR / Class A : Orphans 19719 protein-coding gene gene with protein product 606653 leucine-rich repeat-containing G protein-coupled receptor 6 NA 10935549 Standard NM_021636 XM_005245404 NA Approved FLJ14471 uc001gxu.3 Q9HBX8 OTTHUMG00000041383 ENST00000367278.3:c.356+26C>T chr1.hg19:g.202197161C>T NA Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7 hg19 CCDS30971.1 0.02 4.164854 TTAxATA COVERED NOVEL LGR6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000099143.1 0 6.019464 KEEP 0 0 0 20 710 CC 0.999863 0.999863 0 + 8 60 290 0 0 19.55587 130 60 4932 175 ENST00000367278.3 0.057971 1 PPP1R12B 4660 __UNKNOWN__ __UNKNOWN__ 1 202538315 202538315 __UNKNOWN__ Missense_Mutation SNP A A G rs548061334 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:202538315A>G ENST00000608999.1 + 23 3005 c.2852A>G c.(2851-2853)gAa>gGa p.E951G PPP1R12B_ENST00000391959.3_Missense_Mutation_p.E177G|PPP1R12B_ENST00000290419.5_3'UTR|PPP1R12B_ENST00000336894.4_Missense_Mutation_p.E951G|PPP1R12B_ENST00000367270.4_Missense_Mutation_p.E177G NM_001197131.1|NM_002481.3 NP_001184060.1|NP_002472.2 O60237 MYPT2_HUMAN protein phosphatase 1, regulatory subunit 12B 951 NA G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165) actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886) enzyme activator activity (GO:0008047) central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(75;0.166) GAAATGGAGGAAGAAATGAAG 0.433 NA A||| 1 0.000199681 0.0 0.0 5008 , , NA 20947 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 106 102 104 NA NA 1 NA 202538315 2203 4300 6503 SO:0001583 missense AB003062 CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1 1q32.1 2013-01-10 2011-10-04 2001-08-10 ENSG00000077157 ENSG00000077157 4660 Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits, Ankyrin repeat domain containing 7619 protein-coding gene gene with protein product myosin phosphatase regulatory subunit, myosin phosphatase, target subunit 2 603768 protein phosphatase 1, regulatory (inhibitor) subunit 12B MYPT2 NA 9570949 Standard NM_032105 NM_002481 NA Approved MGC87886, MGC131980, PP1bp55 uc001gya.2 O60237 OTTHUMG00000041393 ENST00000608999.1:c.2852A>G chr1.hg19:g.202538315A>G ENSP00000476755:p.Glu951Gly NA A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8 hg19 CCDS1426.1 0.02 17.524958 AGGxAGA COVERED . . . . . . . . . . A 27.9 4.876603 0.91664 . . ENSG00000077157 ENST00000406302;ENST00000336894;ENST00000391959;ENST00000367270 T;T;T;T 0.61392 0.63;0.64;2.23;0.11 5.42 5.42 0.78866 . 0.000000 0.53938 D 0.000042 T 0.78710 0.4326 M 0.87097 2.86 0.58432 D 0.999996 D;D;D 0.89917 0.998;0.999;1.0 D;D;D 0.85130 0.956;0.986;0.997 T 0.82705 -0.0325 10 0.72032 D 0.01 . 14.0248 0.64580 1.0:0.0:0.0:0.0 . 177;951;951 O60237-3;O60237;F8W8M3 .;MYPT2_HUMAN;. G 951;951;177;177 ENSP00000384496:E951G;ENSP00000337897:E951G;ENSP00000375821:E177G;ENSP00000356239:E177G ENSP00000337897:E951G E + 2 0 PPP1R12B 200804938 1.000000 0.71417 1.000000 0.80357 0.994000 0.84299 8.077000 0.89505 2.049000 0.60858 0.533000 0.62120 GAA NOVEL PPP1R12B-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000099166.3 3 52.619019 KEEP 0 0 0 175 5384 AA 1 1 0 + 11 60 413 0 0 24.586119 397 60 14194 754 ENST00000608999.1 0.026961 1 SYT2 127833 __UNKNOWN__ __UNKNOWN__ 1 202564311 202564311 __UNKNOWN__ 3'UTR SNP C C G rs12033887 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:202564311C>G ENST00000367267.1 - 0 3026 SYT2_ENST00000367268.4_3'UTR NM_001136504.1 NP_001129976.1 Q8N9I0 SYT2_HUMAN synaptotagmin II NA NA neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268) cell junction (GO:0030054)|endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021) calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215) NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1) 29 BRCA - Breast invasive adenocarcinoma(75;0.169) Botulinum Toxin Type B(DB00042) GGACCTCACTCTGTTGTCCAG 0.498 NA C||| 876 0.17492 0.0855 0.2406 5008 , , NA 20063 0.3353 NA 0.0577 False NA ,,, NA NA NA 2504 0.2045 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK090672 CCDS1427.1 1q32.1 2013-01-21 ENSG00000143858 ENSG00000143858 127833 Synaptotagmins 11510 protein-coding gene gene with protein product 600104 NA 7749232 Standard NM_177402 NM_177402 NA Approved uc010pqb.2 Q8N9I0 OTTHUMG00000041388 ENST00000367267.1:c.*1574G>C chr1.hg19:g.202564311C>G NA Q496K5|Q8NBE5 hg19 CCDS1427.1 0.02 4.537929 ACTxTGT COVERED NOVEL SYT2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000099157.1 1 11.73779 KEEP 0 0 0 39 1371 CC 1 1 0 - 6 60 215 0 0 13.616253 135 60 5114 207 ENST00000367267.1 0.042553 1 KDM5B 10765 __UNKNOWN__ __UNKNOWN__ 1 202777961 202777961 __UNKNOWN__ 5'UTR SNP C C G rs10920486 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:202777961C>G ENST00000367265.3 - 0 637 NM_006618.3 NP_006609.3 Q9UGL1 KDM5B_HUMAN lysine (K)-specific demethylase 5B NA NA histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270) breast(2)|ovary(2)|skin(1)|urinary_tract(1) 6 ACAGCTTGAACATACACATAG 0.393 NA C||| 762 0.152157 0.2065 0.1715 5008 , , NA 18079 0.2639 NA 0.0298 False NA ,,, NA NA NA 2504 0.0757 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AJ243706 CCDS30974.1 1q32.1 2014-06-12 2009-04-06 2009-04-06 ENSG00000117139 ENSG00000117139 10765 Chromatin-modifying enzymes / K-demethylases, Zinc fingers, PHD-type 18039 protein-coding gene gene with protein product cancer/testis antigen 31, protein phosphatase 1, regulatory subunit 98 605393 Jumonji, AT rich interactive domain 1B (RBP2-like), jumonji, AT rich interactive domain 1B JARID1B NA 11483573, 11478881 Standard NM_006618 NM_006618 NA Approved RBBP2H1A, PLU-1, CT31, PPP1R98 uc001gyf.3 Q9UGL1 OTTHUMG00000041401 ENST00000367265.3:c.-528G>C chr1.hg19:g.202777961C>G NA O95811|Q15752|Q9Y3Q5 hg19 CCDS30974.1 0.02 14.248368 GAAxATA COVERED NOVEL KDM5B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000099184.2 2 30.097267 KEEP 0 0 0 100 3508 CC 1 1 0 - 12 60 435 0 0 26.04742 372 60 14022 534 ENST00000367265.3 0.03125 1 KDM5B 10765 __UNKNOWN__ __UNKNOWN__ 1 202778061 202778061 __UNKNOWN__ 5'UTR SNP C C T rs41302113 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:202778061C>T ENST00000367265.3 - 0 537 NM_006618.3 NP_006609.3 Q9UGL1 KDM5B_HUMAN lysine (K)-specific demethylase 5B NA NA histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270) breast(2)|ovary(2)|skin(1)|urinary_tract(1) 6 ctaattgcatcgcatgattaa 0.353 NA T||| 1053 0.210264 0.2874 0.196 5008 , , NA 21279 0.2966 NA 0.0875 False NA ,,, NA NA NA 2504 0.1534 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AJ243706 CCDS30974.1 1q32.1 2014-06-12 2009-04-06 2009-04-06 ENSG00000117139 ENSG00000117139 10765 Chromatin-modifying enzymes / K-demethylases, Zinc fingers, PHD-type 18039 protein-coding gene gene with protein product cancer/testis antigen 31, protein phosphatase 1, regulatory subunit 98 605393 Jumonji, AT rich interactive domain 1B (RBP2-like), jumonji, AT rich interactive domain 1B JARID1B NA 11483573, 11478881 Standard NM_006618 NM_006618 NA Approved RBBP2H1A, PLU-1, CT31, PPP1R98 uc001gyf.3 Q9UGL1 OTTHUMG00000041401 ENST00000367265.3:c.-628G>A chr1.hg19:g.202778061C>T NA O95811|Q15752|Q9Y3Q5 hg19 CCDS30974.1 0.02 8.621823 CATxGCA COVERED NOVEL KDM5B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000099184.2 1 13.226322 KEEP 0 0 0 44 1448 CC 1 1 0 - 8 60 294 0 0 18.300406 212 60 7525 310 ENST00000367265.3 0.036364 1 RP11-480I12.5 0 __UNKNOWN__ __UNKNOWN__ 1 202830599 202830599 __UNKNOWN__ RNA SNP T T C rs16850674 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:202830599T>C ENST00000443294.1 - 0 137 NA NA NA GTAGTTGAAGTTGGAGGGTCG 0.637 NA T||| 64 0.0127796 0.0272 0.0 5008 , , NA 12434 0.0248 NA 0.001 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000443294.1: chr1.hg19:g.202830599T>C NA hg19 0.02 9.709046 AAGxTGG COVERED NOVEL RP11-480I12.5-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000099138.1 2 35.204416 KEEP 0 0 0 117 3663 TT 1 1 0 - 8 60 321 0 0 20.630048 236 60 8384 493 ENST00000443294.1 0.032787 1 KLHL12 59349 __UNKNOWN__ __UNKNOWN__ 1 202861565 202861565 __UNKNOWN__ 3'UTR SNP C C G rs4950869 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:202861565C>G ENST00000367261.3 - 0 2021 KLHL12_ENST00000367259.1_3'UTR|KLHL12_ENST00000435533.3_3'UTR NM_021633.2 NP_067646.1 Q53G59 KLH12_HUMAN kelch-like family member 12 NA NA COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|protein monoubiquitination (GO:0006513)|Wnt signaling pathway (GO:0016055) Cul3-RING ubiquitin ligase complex (GO:0031463)|ER to Golgi transport vesicle (GO:0030134)|Golgi membrane (GO:0000139) NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1) 14 BRCA - Breast invasive adenocarcinoma(75;0.166) ACCCGGTGCACATAGTGAGAA 0.478 NA C||| 318 0.0634984 0.0008 0.121 5008 , , NA 21732 0.1002 NA 0.0149 False NA ,,, NA NA NA 2504 0.1196 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF190900 CCDS1429.1 1q32.1 2013-01-30 2013-01-30 ENSG00000117153 ENSG00000117153 59349 Kelch-like, BTB/POZ domain containing 19360 protein-coding gene gene with protein product 614522 kelch-like 12 (Drosophila) NA 12477932 Standard NM_021633 NM_021633 NA Approved C3IP1 uc001gyo.1 Q53G59 OTTHUMG00000041385 ENST00000367261.3:c.*96G>C chr1.hg19:g.202861565C>G NA A6NEN8|B7Z7B8|Q9HBX5 hg19 CCDS1429.1 0.02 30.761132 GCAxATA COVERED NOVEL KLHL12-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000099151.1 3 34.60983 KEEP 0 0 0 115 3945 CC 1 1 0 - 18 60 675 0 0 39.623025 696 70 25483 963 ENST00000367261.3 0.02521 1 KLHL12 59349 __UNKNOWN__ __UNKNOWN__ 1 202887153 202887153 __UNKNOWN__ Intron SNP A A C rs535383181 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:202887153A>C ENST00000367261.3 - 4 786 KLHL12_ENST00000435533.3_Intron NM_021633.2 NP_067646.1 Q53G59 KLH12_HUMAN kelch-like family member 12 NA NA COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|protein monoubiquitination (GO:0006513)|Wnt signaling pathway (GO:0016055) Cul3-RING ubiquitin ligase complex (GO:0031463)|ER to Golgi transport vesicle (GO:0030134)|Golgi membrane (GO:0000139) NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1) 14 BRCA - Breast invasive adenocarcinoma(75;0.166) AATGCAAATAAATTTGGTACA 0.358 NA A||| 5 0.000998403 0.0 0.0 5008 , , NA 20040 0.005 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF190900 CCDS1429.1 1q32.1 2013-01-30 2013-01-30 ENSG00000117153 ENSG00000117153 59349 Kelch-like, BTB/POZ domain containing 19360 protein-coding gene gene with protein product 614522 kelch-like 12 (Drosophila) NA 12477932 Standard NM_021633 NM_021633 NA Approved C3IP1 uc001gyo.1 Q53G59 OTTHUMG00000041385 ENST00000367261.3:c.567+145T>G chr1.hg19:g.202887153A>C NA A6NEN8|B7Z7B8|Q9HBX5 hg19 CCDS1429.1 0.02 4.135824 ATAxATT COVERED NOVEL KLHL12-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000099151.1 0 3.892049 KEEP 0 0 0 13 406 AA 0.994391 0.99439 0 - 6 60 225 0 0 14.80769 124 60 4344 152 ENST00000367261.3 0.046154 1 CYB5R1 51706 __UNKNOWN__ __UNKNOWN__ 1 202931998 202931998 __UNKNOWN__ Intron SNP C C A rs2232852 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:202931998C>A ENST00000367249.4 - 9 820 CYB5R1_ENST00000497655.1_5'UTR NM_016243.2 NP_057327.2 Q9UHQ9 NB5R1_HUMAN cytochrome b5 reductase 1 NA NA sterol biosynthetic process (GO:0016126) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739) cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128) breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 12 BRCA - Breast invasive adenocarcinoma(75;0.141) Flavin adenine dinucleotide(DB03147) TTAGCAGCACCGCCATCCCTG 0.567 NA A||| 2366 0.472444 0.5272 0.4265 5008 , , NA 19783 0.625 NA 0.3549 False NA ,,, NA NA NA 2504 0.3947 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF169481 CCDS1431.1 1q32.1 2011-04-08 2005-07-13 ENSG00000159348 ENSG00000159348 51706 1.6.2.2 13397 protein-coding gene gene with protein product 608341 NAD(P)H:quinone oxidoreductase type 3, polypeptide A2 NQO3A2 NA 12975309, 10611283 Standard NM_016243 NM_016243 NA Approved humb5R2 uc001gyt.2 Q9UHQ9 OTTHUMG00000041387 ENST00000367249.4:c.746-171G>T chr1.hg19:g.202931998C>A NA A0PK21|B2R8E0|O95329|Q53F73|Q8NCL5|Q9UHJ1 hg19 CCDS1431.1 0.02 8.535574 CACxGCC COVERED NOVEL CYB5R1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000099155.1 0 15.64752 KEEP 0 0 0 52 1736 CC 1 1 0 - 7 60 263 0 0 16.051865 222 60 7709 333 ENST00000367249.4 0.030568 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 202956236 202956236 __UNKNOWN__ IGR SNP G G A rs870094 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:202956236G>A NA NA CYB5R1 (19828 upstream) : RP11-38O14.5 (168 downstream) NA NA NA TCAGAGAGAAGCAAGTGAGTA 0.458 NA G||| 312 0.0623003 0.0076 0.0418 5008 , , NA 20344 0.1538 NA 0.0249 False NA ,,, NA NA NA 2504 0.0951 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.202956236G>A NA hg19 0.02 14.168082 GAAxCAA COVERED NOVEL 0 3 15.95238 KEEP 0 0 0 53 1934 GG 1 1 0 13 60 461 0 0 27.686779 369 60 13953 539 0.034031 1 TMEM183A 92703 __UNKNOWN__ __UNKNOWN__ 1 202977809 202977809 __UNKNOWN__ Missense_Mutation SNP G G A rs6678040 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:202977809G>A ENST00000367242.3 + 3 318 c.238G>A c.(238-240)Gca>Aca p.A80T TMEM183A_ENST00000468449.1_3'UTR NM_001079809.1|NM_138391.4 NP_001073277.1|NP_612400.3 Q8IXX5 T183A_HUMAN transmembrane protein 183A 80 NA A -> T (in dbSNP:rs6678040). {ECO:0000269|PubMed:15489334}. integral component of membrane (GO:0016021) endometrium(1)|large_intestine(2)|lung(1)|skin(3) 7 BRCA - Breast invasive adenocarcinoma(75;0.18) TCAGGTTCCTGCAGAGGAAGC 0.478 NA G||| 659 0.131589 0.0696 0.2089 5008 , , NA 13818 0.1756 NA 0.1093 False NA ,,, NA NA NA 2504 0.138 NA NA NA NA 0 G THR/ALA 378,4028 170.5+/-200.9 16,346,1841 43 48 46 238 3.7 1 1 dbSNP_116 46 929,7669 198.7+/-243.0 49,831,3419 yes missense TMEM183A NM_138391.4 58 65,1177,5260 AA,AG,GG 10.8048,8.5792,10.0508 benign 80/377 202977809 1307,11697 2203 4299 6502 SO:0001583 missense BC013073 CCDS1432.1 1q31.1 2008-09-09 2006-12-18 2006-12-18 ENSG00000163444 ENSG00000163444 92703 20173 protein-coding gene gene with protein product chromosome 1 open reading frame 37 C1orf37 NA Standard NM_138391 NM_138391 NA Approved uc001gyu.1 Q8IXX5 OTTHUMG00000042051 ENST00000367242.3:c.238G>A chr1.hg19:g.202977809G>A ENSP00000356211:p.Ala80Thr NA A8K5W1|Q6NW15|Q96E06 hg19 CCDS1432.1 0.02 4.285131 CCTxCAG COVERED 276 0.12637362637362637 27 0.054878048780487805 77 0.212707182320442 93 0.16258741258741258 79 0.10422163588390501 G 10.56 1.384488 0.25031 0.085792 0.108048 ENSG00000163444 ENST00000367242 T 0.22336 1.96 4.84 3.7 0.42460 . 0.267365 0.36778 N 0.002409 T 0.00012 0.0000 N 0.12182 0.205 0.33821 P 0.370915 B;B;B;B 0.06786 0.0;0.0;0.001;0.0 B;B;B;B 0.04013 0.001;0.001;0.001;0.001 T 0.38866 -0.9641 9 0.07030 T 0.85 -6.7407 3.9794 0.09489 0.2285:0.0:0.569:0.2025 rs6678040;rs6678040 80;80;80;80 A8K5W1;Q8IXX5-2;Q1AE95;Q8IXX5 .;.;T183B_HUMAN;T183A_HUMAN T 80 ENSP00000356211:A80T ENSP00000356211:A80T A + 1 0 TMEM183A 201244432 1.000000 0.71417 1.000000 0.80357 0.995000 0.86356 1.172000 0.31908 2.223000 0.72356 0.462000 0.41574 GCA NOVEL TMEM183A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000100129.1 0 18.954801 KEEP 0 0 0 63 2166 GG 1 0.999995 0 + 5 60 179 0 0 11.398295 108 60 3735 211 ENST00000367242.3 0.044248 0.999995 TMEM183A 92703 __UNKNOWN__ __UNKNOWN__ 1 202983873 202983873 __UNKNOWN__ Intron SNP G G A rs72754738 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:202983873G>A ENST00000367242.3 + 4 447 TMEM183A_ENST00000468449.1_Intron NM_001079809.1|NM_138391.4 NP_001073277.1|NP_612400.3 Q8IXX5 T183A_HUMAN transmembrane protein 183A NA NA integral component of membrane (GO:0016021) endometrium(1)|large_intestine(2)|lung(1)|skin(3) 7 BRCA - Breast invasive adenocarcinoma(75;0.18) AGGATGAGCAGGAAATGATAA 0.368 NA G||| 529 0.105631 0.0121 0.2104 5008 , , NA 19439 0.2837 NA 0.0328 False NA ,,, NA NA NA 2504 0.0491 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC013073 CCDS1432.1 1q31.1 2008-09-09 2006-12-18 2006-12-18 ENSG00000163444 ENSG00000163444 92703 20173 protein-coding gene gene with protein product chromosome 1 open reading frame 37 C1orf37 NA Standard NM_138391 NM_138391 NA Approved uc001gyu.1 Q8IXX5 OTTHUMG00000042051 ENST00000367242.3:c.368-144G>A chr1.hg19:g.202983873G>A NA A8K5W1|Q6NW15|Q96E06 hg19 CCDS1432.1 0.02 6.308182 GCAxGAA COVERED NOVEL TMEM183A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000100129.1 0 7.524611 KEEP 0 0 0 25 886 GG 0.999931 0.999931 0 + 9 60 324 0 0 21.50721 157 60 5928 204 ENST00000367242.3 0.054217 1 TMEM183A 92703 __UNKNOWN__ __UNKNOWN__ 1 202992954 202992954 __UNKNOWN__ 3'UTR SNP T T C rs1046529 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:202992954T>C ENST00000367242.3 + 0 1997 NM_001079809.1|NM_138391.4 NP_001073277.1|NP_612400.3 Q8IXX5 T183A_HUMAN transmembrane protein 183A NA NA integral component of membrane (GO:0016021) endometrium(1)|large_intestine(2)|lung(1)|skin(3) 7 BRCA - Breast invasive adenocarcinoma(75;0.18) ccaggtctTTTTGTTGTACCA 0.353 NA T||| 453 0.0904553 0.0121 0.1023 5008 , , NA 16956 0.1627 NA 0.1083 False NA ,,, NA NA NA 2504 0.0951 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC013073 CCDS1432.1 1q31.1 2008-09-09 2006-12-18 2006-12-18 ENSG00000163444 ENSG00000163444 92703 20173 protein-coding gene gene with protein product chromosome 1 open reading frame 37 C1orf37 NA Standard NM_138391 NM_138391 NA Approved uc001gyu.1 Q8IXX5 OTTHUMG00000042051 ENST00000367242.3:c.*786T>C chr1.hg19:g.202992954T>C NA A8K5W1|Q6NW15|Q96E06 hg19 CCDS1432.1 0.02 9.649945 TTTxTGT COVERED NOVEL TMEM183A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000100129.1 1 21.362211 KEEP 0 0 0 71 2255 TT 1 1 0 + 14 60 514 0 0 35.242321 214 60 7718 357 ENST00000367242.3 0.061404 1 PPFIA4 8497 __UNKNOWN__ __UNKNOWN__ 1 203003870 203003870 __UNKNOWN__ Intron SNP G G A rs782800 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:203003870G>A ENST00000367240.2 + 2 128 PPFIA4_ENST00000295706.4_5'UTR|PPFIA4_ENST00000447715.2_5'UTR O75335 LIPA4_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 NA NA cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786) NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 50 AGGGAAGGCCGAGGGGAGCTG 0.592 NA G||| 2452 0.489617 0.3472 0.4726 5008 , , NA 16629 0.5317 NA 0.5865 False NA ,,, NA NA NA 2504 0.5511 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF034801 CCDS44296.1 1q32.1 2013-01-10 ENSG00000143847 ENSG00000143847 8497 Sterile alpha motif (SAM) domain containing 9248 protein-coding gene gene with protein product Liprin-alpha4 603145 NA 9624153 Standard NM_015053 XM_005245553 NA Approved uc009xaj.3 O75335 OTTHUMG00000042123 ENST00000367240.2:c.-399-3868G>A chr1.hg19:g.203003870G>A NA A2RUJ5|B1APN8|B1N949|B7ZM43|O94971 hg19 0.02 4.135564 GCCxAGG COVERED NOVEL PPFIA4-001 NOVEL not_organism_supported|basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000100269.2 1 9.028844 KEEP 0 0 0 30 1039 GG 0.999997 0.999997 0 + 8 60 288 0 0 19.57031 122 60 4274 198 ENST00000367240.2 0.061538 1 PPFIA4 8497 __UNKNOWN__ __UNKNOWN__ 1 203030071 203030071 __UNKNOWN__ Intron SNP C C T rs2270545 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:203030071C>T ENST00000367240.2 + 22 3248 PPFIA4_ENST00000599966.1_Intron|PPFIA4_ENST00000295706.4_Intron|PPFIA4_ENST00000447715.2_Intron|PPFIA4_ENST00000414050.2_Intron|PPFIA4_ENST00000272198.6_Intron O75335 LIPA4_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 NA NA cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786) NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 50 ACACCCAGGACCAGCTAGGTT 0.547 NA C||| 778 0.155351 0.2239 0.1124 5008 , , NA 19060 0.127 NA 0.1561 False NA ,,, NA NA NA 2504 0.1217 NA NA NA NA 0 850,2936 97,656,1140 101 105 104 1.4 0 1 dbSNP_100 104 1329,6899 100,1129,2885 no intron PPFIA4 NM_015053.1 197,1785,4025 TT,TC,CC 16.1522,22.4511,18.1372 203030071 2179,9835 1893 4114 6007 SO:0001627 intron_variant AF034801 CCDS44296.1 1q32.1 2013-01-10 ENSG00000143847 ENSG00000143847 8497 Sterile alpha motif (SAM) domain containing 9248 protein-coding gene gene with protein product Liprin-alpha4 603145 NA 9624153 Standard NM_015053 XM_005245553 NA Approved uc009xaj.3 O75335 OTTHUMG00000042123 ENST00000367240.2:c.2722-27C>T chr1.hg19:g.203030071C>T NA A2RUJ5|B1APN8|B1N949|B7ZM43|O94971 hg19 0.02 2.217753 GGAxCAG COVERED NOVEL PPFIA4-001 NOVEL not_organism_supported|basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000100269.2 1 4.514745 KEEP 0 0 0 15 537 CC 0.99649 0.990215 0 + 4 60 146 0 0 9.985767 61 60 2277 87 ENST00000367240.2 0.061538 0.993703 PPFIA4 8497 __UNKNOWN__ __UNKNOWN__ 1 203046029 203046029 __UNKNOWN__ 3'UTR SNP C C T rs3795586 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:203046029C>T ENST00000367240.2 + 0 4599 PPFIA4_ENST00000599966.1_3'UTR|PPFIA4_ENST00000295706.4_3'UTR|PPFIA4_ENST00000447715.2_3'UTR|PPFIA4_ENST00000594572.1_3'UTR|PPFIA4_ENST00000272198.6_3'UTR O75335 LIPA4_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 NA NA cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786) NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 50 TCACCACTCTCCCAACCCATC 0.587 NA C||| 804 0.160543 0.2194 0.1138 5008 , , NA 20597 0.123 NA 0.1879 False NA ,,, NA NA NA 2504 0.1247 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF034801 CCDS44296.1 1q32.1 2013-01-10 ENSG00000143847 ENSG00000143847 8497 Sterile alpha motif (SAM) domain containing 9248 protein-coding gene gene with protein product Liprin-alpha4 603145 NA 9624153 Standard NM_015053 XM_005245553 NA Approved uc009xaj.3 O75335 OTTHUMG00000042123 ENST00000367240.2:c.*511C>T chr1.hg19:g.203046029C>T NA A2RUJ5|B1APN8|B1N949|B7ZM43|O94971 hg19 0.02 14.204862 TCTxCCA COVERED NOVEL PPFIA4-001 NOVEL not_organism_supported|basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000100269.2 2 13.243095 KEEP 0 0 0 44 1557 CC 1 1 0 + 12 60 427 0 0 25.666941 343 60 12864 497 ENST00000367240.2 0.033803 1 PPFIA4 8497 __UNKNOWN__ __UNKNOWN__ 1 203046340 203046340 __UNKNOWN__ 3'UTR SNP G G A rs12064527 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:203046340G>A ENST00000367240.2 + 0 4910 PPFIA4_ENST00000295706.4_3'UTR|PPFIA4_ENST00000447715.2_3'UTR|PPFIA4_ENST00000272198.6_3'UTR O75335 LIPA4_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 NA NA cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786) NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 50 TAAGCCCAAAGGGCAGTGGGA 0.572 NA G||| 914 0.182508 0.3026 0.1167 5008 , , NA 19622 0.123 NA 0.1879 False NA ,,, NA NA NA 2504 0.1227 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF034801 CCDS44296.1 1q32.1 2013-01-10 ENSG00000143847 ENSG00000143847 8497 Sterile alpha motif (SAM) domain containing 9248 protein-coding gene gene with protein product Liprin-alpha4 603145 NA 9624153 Standard NM_015053 XM_005245553 NA Approved uc009xaj.3 O75335 OTTHUMG00000042123 ENST00000367240.2:c.*822G>A chr1.hg19:g.203046340G>A NA A2RUJ5|B1APN8|B1N949|B7ZM43|O94971 hg19 0.02 7.71332 AAAxGGC COVERED NOVEL PPFIA4-001 NOVEL not_organism_supported|basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000100269.2 1 5.417149 KEEP 0 0 0 18 619 GG 0.999859 0.999859 0 + 7 60 248 0 0 14.358731 237 60 8645 282 ENST00000367240.2 0.028689 1 ADORA1 134 __UNKNOWN__ __UNKNOWN__ 1 203135452 203135452 __UNKNOWN__ 3'UTR SNP C C T rs16851030 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:203135452C>T ENST00000367236.4 + 0 2326 ADORA1_ENST00000472535.1_3'UTR|ADORA1_ENST00000309502.3_3'UTR|ADORA1_ENST00000337894.4_3'UTR|ADORA1_ENST00000367235.1_3'UTR NM_001048230.1 NP_001041695.1 P30542 AA1R_HUMAN adenosine A1 receptor NA NA activation of MAPKK activity (GO:0000186)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|cognition (GO:0050890)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood pressure (GO:0045776)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, non-REM sleep (GO:0042323)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of heart contraction (GO:0045822)|negative regulation of hormone secretion (GO:0046888)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of mucus secretion (GO:0070256)|negative regulation of neurotrophin production (GO:0032900)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of vasodilation (GO:0045908)|nervous system development (GO:0007399)|phagocytosis (GO:0006909)|positive regulation of blood pressure (GO:0045777)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of nucleoside transport (GO:0032244)|positive regulation of peptide secretion (GO:0002793)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of protein dephosphorylation (GO:0035307)|protein targeting to membrane (GO:0006612)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of glomerular filtration (GO:0003093)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|relaxation of vascular smooth muscle (GO:0060087)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|temperature homeostasis (GO:0001659) asymmetric synapse (GO:0032279)|axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195) G-protein coupled adenosine receptor activity (GO:0001609)|phospholipase C activity (GO:0004629)|purine nucleoside binding (GO:0001883) central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 25 Adenosine(DB00640)|Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Gabapentin(DB00996)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Theobromine(DB01412)|Theophylline(DB00277) GTGGTGCAGCCCCAGGACCAA 0.587 NA C||| 767 0.153155 0.1142 0.1009 5008 , , NA 20867 0.3958 NA 0.0368 False NA ,,, NA NA NA 2504 0.1125 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC026340 CCDS1434.1 1q32.1 2012-08-08 ENSG00000163485 ENSG00000163485 134 GPCR / Class A : Adenosine receptors 262 protein-coding gene gene with protein product 102775 NA 1662665, 2541503 Standard NM_000674 NM_001048230 NA Approved RDC7 uc001gzf.1 P30542 OTTHUMG00000042125 ENST00000367236.4:c.*424C>T chr1.hg19:g.203135452C>T NA A6NFY5|A6NGP4|A8K1L3|B3KXQ4|D2CGD0|Q6FHK3|Q8TAM8 hg19 CCDS1434.1 0.02 11.350999 AGCxCCA COVERED NOVEL ADORA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000100273.1 2 11.135755 KEEP 0 0 0 37 1288 CC 1 1 0 + 12 60 437 0 0 28.305764 249 60 9097 369 ENST00000367236.4 0.045977 1 MYBPH 4608 __UNKNOWN__ __UNKNOWN__ 1 203143725 203143725 __UNKNOWN__ Splice_Site SNP G G C rs2642531 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:203143725G>C ENST00000255416.4 - 3 398 c.341C>G c.(340-342)gCc>gGc p.A114G NM_004997.2 NP_004988.2 Q13203 MYBPH_HUMAN myosin binding protein H 114 Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}. NA A -> G (in dbSNP:rs2642531). cell adhesion (GO:0007155)|regulation of striated muscle contraction (GO:0006942) myosin filament (GO:0032982) structural constituent of muscle (GO:0008307) endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1) 20 BRCA - Breast invasive adenocarcinoma(75;0.153) Colorectal(1306;0.0306) CCACTCCGAGGCTGAGGGGAT 0.612 NA g||| 1271 0.253794 0.528 0.2522 5008 , , NA 17735 0.1468 NA 0.1352 False NA ,,, NA NA NA 2504 0.1166 NA NA NA NSCLC(32;174 1025 14462 23899 42933) NA 0 C GLY/ALA 2143,2263 534,1075,594 28 23 25 341 4.6 1 1 dbSNP_100 25 1124,7476 86,952,3262 yes missense-near-splice MYBPH NM_004997.2 60 620,2027,3856 CC,CG,GG 13.0698,48.6382,25.1192 benign 114/478 203143725 3267,9739 2203 4300 6503 SO:0001630 splice_region_variant BC044226 CCDS30975.1 1q32.1 2013-02-11 2001-11-28 ENSG00000133055 ENSG00000133055 4608 Myosin binding proteins, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing 7552 protein-coding gene gene with protein product 160795 myosin-binding protein H NA 8486381 Standard NM_004997 NM_004997 NA Approved uc001gzh.1 Q13203 OTTHUMG00000042121 ENST00000255416.4:c.341-1C>G chr1.hg19:g.203143725G>C NA Q16886|Q86YC5 hg19 CCDS30975.1 0.02 2.010145 GAGxCTG COVERED 536 0.2454212454212454 263 0.5345528455284553 85 0.23480662983425415 91 0.1590909090909091 97 0.1279683377308707 g 10.09 1.255596 0.22965 0.486382 0.130698 ENSG00000133055 ENST00000255416 T 0.54866 0.55 5.53 4.62 0.57501 Fibronectin, type III (4);Immunoglobulin-like fold (1); 0.133482 0.34245 N 0.004140 T 0.00012 0.0000 N 0.17872 0.535 0.30470 P 0.773413 B 0.20780 0.048 B 0.25614 0.062 T 0.45600 -0.9250 9 0.45353 T 0.12 . 12.5921 0.56449 0.0:0.1669:0.8331:0.0 rs2642531;rs3820146;rs59912116;rs2642531 114 Q13203 MYBPH_HUMAN G 114 ENSP00000255416:A114G ENSP00000255416:A114G A - 2 0 MYBPH 201410348 0.997000 0.39634 1.000000 0.80357 0.037000 0.13140 1.982000 0.40638 1.346000 0.45694 -0.121000 0.15023 GCC NOVEL MYBPH-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000100264.1 1 5.417572 KEEP 0 0 0 18 645 GG 0.999859 0.999822 0 Missense_Mutation - 5 60 187 0 0 12.466704 95 60 3563 140 ENST00000255416.4 0.05 0.999962 CHI3L1 1116 __UNKNOWN__ __UNKNOWN__ 1 203155703 203155703 __UNKNOWN__ Intron SNP A A T rs7515776 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:203155703A>T ENST00000255409.3 - 1 151 NM_001276.2 NP_001267.2 P36222 CH3L1_HUMAN chitinase 3-like 1 (cartilage glycoprotein-39) NA NA activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to tumor necrosis factor (GO:0071356)|chitin catabolic process (GO:0006032)|inflammatory response (GO:0006954)|interleukin-8 secretion (GO:0072606)|lung development (GO:0030324)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase B signaling (GO:0051897)|response to interleukin-1 (GO:0070555)|response to interleukin-6 (GO:0070741)|response to mechanical stimulus (GO:0009612)|response to tumor necrosis factor (GO:0034612) cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578) carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|extracellular matrix structural constituent (GO:0005201)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553) breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1) 18 ACTCTGATGGATTAACCTTGG 0.602 NA A||| 1433 0.286142 0.4811 0.2896 5008 , , NA 14708 0.2907 NA 0.1372 False NA ,,, NA NA NA 2504 0.1687 NA NA NA NA 0 A 1923,2483 548.7+/-377.6 426,1071,706 134 128 130 1.1 0 1 dbSNP_116 130 1179,7421 238.6+/-270.0 88,1003,3209 no intron CHI3L1 NM_001276.2 514,2074,3915 TT,TA,AA 13.7093,43.645,23.8505 203155703 3102,9904 2203 4300 6503 SO:0001627 intron_variant BC008568 CCDS1435.1 1q32.1 2008-02-05 ENSG00000133048 ENSG00000133048 1116 1932 protein-coding gene gene with protein product 601525 NA 8245017, 9244440 Standard NM_001276 NM_001276 NA Approved GP39, YKL40 uc001gzi.2 P36222 OTTHUMG00000042122 ENST00000255409.3:c.25+23T>A chr1.hg19:g.203155703A>T NA B2R7B0|P30923|Q8IVA4|Q96HI7 hg19 CCDS1435.1 0.02 19.268575 TGGxTTA COVERED NOVEL CHI3L1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000100265.1 1 28.588394 KEEP 0 0 0 95 3066 AA 1 1 0 - 16 60 564 0 0 33.929801 443 60 15988 710 ENST00000255409.3 0.034858 1 CHIT1 1118 __UNKNOWN__ __UNKNOWN__ 1 203192137 203192137 __UNKNOWN__ Intron SNP T T C rs3820145 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:203192137T>C ENST00000367229.1 - 6 640 CHIT1_ENST00000535569.1_Intron|CHIT1_ENST00000484834.1_Intron|CHIT1_ENST00000255427.3_Intron NM_001270509.1|NM_003465.2 NP_001257438.1|NP_003456.1 Q13231 CHIT1_HUMAN chitinase 1 (chitotriosidase) NA NA chitin catabolic process (GO:0006032)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|response to bacterium (GO:0009617) extracellular space (GO:0005615)|lysosome (GO:0005764) chitin binding (GO:0008061)|chitinase activity (GO:0004568)|endochitinase activity (GO:0008843) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2) 27 TTTGTTCTGGTGTAAGGATGG 0.493 NA T||| 1209 0.241414 0.2428 0.2406 5008 , , NA 21522 0.3333 NA 0.1988 False NA ,,, NA NA NA 2504 0.1892 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U29615 CCDS1436.1, CCDS58057.1 1q32.1 2013-06-06 ENSG00000133063 ENSG00000133063 1118 1936 protein-coding gene gene with protein product 600031 NA 9748235, 9492324 Standard NM_003465 NM_003465 NA Approved CHIT, CHI3 uc001gzn.2 Q13231 OTTHUMG00000042126 ENST00000367229.1:c.605+125A>G chr1.hg19:g.203192137T>C NA B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8 hg19 CCDS1436.1 0.02 13.146662 TGGxGTA COVERED NOVEL CHIT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000100275.2 2 9.022316 KEEP 0 0 0 30 844 TT 0.999997 0.999997 0 - 12 60 439 0 0 27.46297 305 60 10347 377 ENST00000367229.1 0.037855 1 FMOD 2331 __UNKNOWN__ __UNKNOWN__ 1 203311216 203311216 __UNKNOWN__ 3'UTR SNP T T C rs3738022 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:203311216T>C ENST00000354955.4 - 0 1849 FMOD_ENST00000493296.1_Intron NM_002023.4 NP_002014.2 Q06828 FMOD_HUMAN fibromodulin NA NA carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor complex assembly (GO:0007181) extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578) breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 17 BRCA - Breast invasive adenocarcinoma(75;0.171) TTTATGGGGTTGGAACATCCA 0.473 NA OREG0014119 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) C||| 1291 0.257788 0.0658 0.3876 5008 , , NA 20092 0.4841 NA 0.1799 False NA ,,, NA NA NA 2504 0.272 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U05291 CCDS30976.1 1q32 2008-02-05 ENSG00000122176 ENSG00000122176 2331 Proteoglycans / Extracellular Matrix : Small leucine-rich repeats 3774 protein-coding gene gene with protein product fibromodulin proteoglycan 600245 NA 7851907 Standard NM_002023 NM_002023 NA Approved SLRR2E uc001gzr.3 Q06828 OTTHUMG00000035910 ENST00000354955.4:c.*255A>G chr1.hg19:g.203311216T>C 2136 Q15331|Q8IV47 hg19 CCDS30976.1 0.02 10.247194 GGTxGGA COVERED NOVEL FMOD-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000087472.1 0 31.585776 KEEP 0 0 0 105 3166 TT 1 1 0 - 10 60 347 0 0 20.871533 263 60 9386 469 ENST00000354955.4 0.03663 1 ATP2B4 493 __UNKNOWN__ __UNKNOWN__ 1 203679934 203679934 __UNKNOWN__ Intron SNP A A G rs2032018 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:203679934A>G ENST00000357681.5 + 12 2922 ATP2B4_ENST00000367219.3_Intron|ATP2B4_ENST00000341360.2_Intron|ATP2B4_ENST00000391954.2_Intron|ATP2B4_ENST00000367218.3_Intron NM_001684.4 NP_001675.3 P23634 AT2B4_HUMAN ATPase, Ca++ transporting, plasma membrane 4 NA NA blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085) caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018) ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110) NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3) 56 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) TTGCCAAAATACCTGTCAATG 0.478 NA G||| 3280 0.654952 0.6899 0.6715 5008 , , NA 22174 0.7966 NA 0.4592 False NA ,,, NA NA NA 2504 0.6513 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M25874 CCDS1440.1, CCDS30977.1 1q32.1 2010-04-20 2005-05-26 ENSG00000058668 ENSG00000058668 493 3.6.3.8 ATPases / P-type 817 protein-coding gene gene with protein product plasma membrane calcium-transporting ATPase 4 108732 matrix-remodelling associated 1 ATP2B2, MXRA1 NA 1674727 Standard NM_001001396 NM_001001396 NA Approved PMCA4 uc001gzw.3 P23634 OTTHUMG00000035906 ENST00000357681.5:c.1800-71A>G chr1.hg19:g.203679934A>G NA B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1 hg19 CCDS1440.1 0.02 4.886078 AATxCCT COVERED NOVEL ATP2B4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000087462.1 0 13.838542 KEEP 0 0 0 46 1402 AA 1 1 0 + 11 60 435 0 0 31.776513 136 60 4742 233 ENST00000357681.5 0.07483 1 ATP2B4 493 __UNKNOWN__ __UNKNOWN__ 1 203698703 203698703 __UNKNOWN__ Intron SNP T T G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:203698703T>G ENST00000357681.5 + 20 4432 ATP2B4_ENST00000367219.3_Intron|ATP2B4_ENST00000341360.2_Intron|ATP2B4_ENST00000391954.2_Intron|ATP2B4_ENST00000367218.3_Intron NM_001684.4 NP_001675.3 P23634 AT2B4_HUMAN ATPase, Ca++ transporting, plasma membrane 4 NA NA blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085) caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018) ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110) NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3) 56 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) agaagaaaaGTGGATTGCAGA 0.483 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M25874 CCDS1440.1, CCDS30977.1 1q32.1 2010-04-20 2005-05-26 ENSG00000058668 ENSG00000058668 493 3.6.3.8 ATPases / P-type 817 protein-coding gene gene with protein product plasma membrane calcium-transporting ATPase 4 108732 matrix-remodelling associated 1 ATP2B2, MXRA1 NA 1674727 Standard NM_001001396 NM_001001396 NA Approved PMCA4 uc001gzw.3 P23634 OTTHUMG00000035906 ENST00000357681.5:c.3309+2004T>G chr1.hg19:g.203698703T>G NA B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1 hg19 CCDS1440.1 0.02 0.856293 AAGxGGA COVERED NOVEL ATP2B4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000087462.1 8 5.993966 KEEP 0 2 13 25 737 TT 0.999988 0.992913 0 + 11 60 158 0 0 8.683519 52 60 1622 130 ENST00000357681.5 0.174603 0.992926 LAX1 54900 __UNKNOWN__ __UNKNOWN__ 1 203743122 203743122 __UNKNOWN__ Silent SNP G G A rs3820194 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:203743122G>A ENST00000442561.2 + 5 900 c.510G>A c.(508-510)tcG>tcA p.S170S LAX1_ENST00000367215.1_3'UTR|LAX1_ENST00000367217.5_Silent_p.S154S NM_017773.3 NP_060243.2 Q8IWV1 LAX1_HUMAN lymphocyte transmembrane adaptor 1 170 NA antigen receptor-mediated signaling pathway (GO:0050851)|B cell activation (GO:0042113)|immune response (GO:0006955)|immunoglobulin secretion (GO:0048305)|inactivation of MAPK activity (GO:0000188)|intracellular signal transduction (GO:0035556)|negative regulation of T cell activation (GO:0050868) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169) central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2) 24 all_cancers(21;0.0915) BRCA - Breast invasive adenocarcinoma(75;0.109) TCACTCCCTCGGCACACTGCA 0.532 NA G||| 1474 0.294329 0.3222 0.1657 5008 , , NA 16855 0.2321 NA 0.331 False NA ,,, NA NA NA 2504 0.3742 NA NA NA NA 0 G , 1395,3011 458.0+/-351.8 198,999,1006 100 90 94 462,510 -11 0 1 dbSNP_107 94 2800,5800 442.1+/-360.0 465,1870,1965 no coding-synonymous,coding-synonymous LAX1 NM_001136190.1,NM_017773.3 , 663,2869,2971 AA,AG,GG 32.5581,31.6614,32.2543 , 154/383,170/399 203743122 4195,8811 2203 4300 6503 SO:0001819 synonymous_variant AK000347 CCDS1441.2, CCDS44297.1 1q32.1 2008-02-05 ENSG00000122188 ENSG00000122188 54900 26005 protein-coding gene gene with protein product LAT-like membrane associated protein, linker for activation of x cells NA 12359715 Standard NM_017773 NM_017773 NA Approved LAX, FLJ20340 uc001haa.3 Q8IWV1 OTTHUMG00000035908 ENST00000442561.2:c.510G>A chr1.hg19:g.203743122G>A NA B7Z744|J3KP69|Q6NSZ6|Q9NXB4 hg19 CCDS1441.2 0.02 11.419695 CTCxGCA COVERED NOVEL LAX1-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000087468.3 1 21.369316 KEEP 0 0 0 71 2492 GG 1 1 0 + 8 60 303 0 0 18.705462 245 60 8385 400 ENST00000442561.2 0.031621 1 ZBED6 100381270 __UNKNOWN__ __UNKNOWN__ 1 203766964 203766964 __UNKNOWN__ Missense_Mutation SNP A A G rs3737972 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:203766964A>G ENST00000550078.1 + 1 1528 c.314A>G c.(313-315)aAt>aGt p.N105S ZC3H11A_ENST00000367212.3_Intron|ZC3H11A_ENST00000367214.1_Intron|ZC3H11A_ENST00000332127.4_Intron|ZC3H11A_ENST00000466470.1_Intron NM_001174108.1 NP_001167579.1 zinc finger, BED-type containing 6 NA NA NA TTAGCTTCCAATGACCCTGAG 0.433 NA A||| 675 0.134784 0.1604 0.0173 5008 , , NA 20167 0.38 NA 0.0189 False NA ,,, NA NA NA 2504 0.0501 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense CCDS55673.1 1q32.1 2013-05-03 ENSG00000257315 ENSG00000257315 100381270 Zinc fingers, BED-type 33273 protein-coding gene gene with protein product 613512 NA 20016685, 20375320, 23533661 Standard NM_001174108 NM_001174108 NA Approved uc021phs.1 P86452 OTTHUMG00000170422 ENST00000550078.1:c.314A>G chr1.hg19:g.203766964A>G ENSP00000447879:p.Asn105Ser NA hg19 CCDS55673.1 0.02 17.956194 CCAxTGA COVERED 298 0.13644688644688643 74 0.15040650406504066 6 0.016574585635359115 202 0.3531468531468531 16 0.021108179419525065 A 0.004 -2.339253 0.00224 . . ENSG00000257315 ENST00000550078 . . . 5.86 -1.19 0.09585 . . . . . T 0.00012 0.0000 N 0.08118 0 0.80722 P 0.0 . . . . . . T 0.37126 -0.9719 5 0.02654 T 1 . 4.963 0.14076 0.3463:0.264:0.3898:0.0 rs3737972;rs58533345;rs3737972 . . . S 105 . ENSP00000447879:N105S N + 2 0 ZBED6 202033587 0.000000 0.05858 0.000000 0.03702 0.215000 0.24574 -1.051000 0.03507 -0.509000 0.06532 -0.371000 0.07208 AAT NOVEL ZBED6-001 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000409061.2 1 50.8486 KEEP 0 0 0 169 5259 AA 1 1 0 + 12 60 463 0 0 28.281862 415 60 15275 733 ENST00000550078.1 0.028103 1 ZC3H11A 9877 __UNKNOWN__ __UNKNOWN__ 1 203823221 203823221 __UNKNOWN__ 3'UTR SNP T T A rs7312 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:203823221T>A ENST00000545588.1 + 0 7954 ZC3H11A_ENST00000332127.4_3'UTR|ZC3H11A_ENST00000367210.1_3'UTR NM_001271675.1 NP_001258604.1 O75152 ZC11A_HUMAN zinc finger CCCH-type containing 11A NA NA poly(A)+ mRNA export from nucleus (GO:0016973) metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822) central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 all_cancers(21;0.0904)|all_epithelial(62;0.234) BRCA - Breast invasive adenocarcinoma(75;0.109) AATACTTGTTTGTGTTTTAAA 0.333 NA T||| 771 0.153954 0.1611 0.0159 5008 , , NA 17263 0.4573 NA 0.0129 False NA ,,, NA NA NA 2504 0.0746 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS30978.1 1q32.1 2012-07-05 2005-06-02 2005-06-02 ENSG00000058673 ENSG00000058673 9877 Zinc fingers, CCCH-type domain containing 29093 protein-coding gene gene with protein product 613513 zinc finger CCCH-type domain containing 11A ZC3HDC11A NA 9734811 Standard NM_014827 NM_014827 NA Approved KIAA0663 uc001hac.3 O75152 OTTHUMG00000035909 ENST00000545588.1:c.*1694T>A chr1.hg19:g.203823221T>A NA Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7 hg19 CCDS30978.1 0.02 17.952514 GTTxGTG COVERED NOVEL ZC3H11A-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000087471.3 6 37.916212 KEEP 2 0 0 126 4042 TT 1 1 0 + 15 60 560 1 0 35.129192 401 70 14891 721 ENST00000545588.1 0.036058 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 203823256 203823256 __UNKNOWN__ IGR SNP A A G rs16830301 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:203823256A>G NA NA ZC3H11A (4 upstream) : SNRPE (7474 downstream) NA NA NA GAAAGTCTTGATGTTGTGAGC 0.393 NA A||| 773 0.154353 0.1626 0.0159 5008 , , NA 16089 0.4573 NA 0.0129 False NA ,,, NA NA NA 2504 0.0746 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.203823256A>G NA hg19 0.02 13.091636 TTGxTGT COVERED NOVEL 0 2 28.583051 KEEP 0 0 0 95 2951 AA 1 1 0 14 60 521 0 0 33.332493 332 70 12280 537 0.040462 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 203925409 203925409 __UNKNOWN__ IGR SNP A A C rs79653359 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:203925409A>C NA NA SNRPE (85731 upstream) : AC096645.1 (42963 downstream) NA NA NA TTGGGGCTTGATAGGGGAAAT 0.378 NA A||| 478 0.0954473 0.0393 0.0216 5008 , , NA 19432 0.2589 NA 0.0417 False NA ,,, NA NA NA 2504 0.1104 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.203925409A>C NA hg19 0.02 30.215235 TTGxTAG COVERED NOVEL 0 3 19.557336 KEEP 0 0 0 65 2004 AA 1 1 0 23 60 884 0 0 56.161682 630 60 22632 874 0.035222 1 SOX13 9580 __UNKNOWN__ __UNKNOWN__ 1 204094963 204094963 __UNKNOWN__ Intron SNP C C T rs12566764 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:204094963C>T ENST00000367204.1 + 14 1701 NM_005686.2 NP_005677.2 Q9UN79 SOX13_HUMAN SRY (sex determining region Y)-box 13 NA NA anatomical structure morphogenesis (GO:0009653)|regulation of gamma-delta T cell differentiation (GO:0045586)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2) 13 all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109) CATCCATCACCGTTCCCCTTC 0.602 NA C||| 685 0.136781 0.0023 0.0865 5008 , , NA 20575 0.3462 NA 0.0944 False NA ,,, NA NA NA 2504 0.182 NA NA NA NA 0 C 68,4156 0,68,2044 21 23 22 -5.8 0 1 dbSNP_120 22 724,7726 29,666,3530 no intron SOX13 NM_005686.2 29,734,5574 TT,TC,CC 8.568,1.6098,6.249 204094963 792,11882 2112 4225 6337 SO:0001627 intron_variant CCDS44299.1 1q32 2008-07-18 ENSG00000143842 ENSG00000143842 9580 SRY (sex determining region Y)-boxes 11192 protein-coding gene gene with protein product islet cell antibody 12, SRY-related HMG-box gene 13, type 1 diabetes autoantigen, SRY-box 13 604748 NA 10198172 Standard NM_005686 NM_005686 NA Approved Sox-13, ICA12, MGC117216 uc001ham.3 Q9UN79 OTTHUMG00000036050 ENST00000367204.1:c.1593-23C>T chr1.hg19:g.204094963C>T NA B4E2B0|O95275|O95826|Q3KQV7|Q5SXX1|Q9UHW7 hg19 CCDS44299.1 0.02 6.34096 CACxGTT COVERED NOVEL SOX13-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000087881.2 1 4.045358 KEEP 0 1 33 25 824 CC 0.999957 0.999957 0 + 8 60 284 0 0 17.916802 177 60 6299 230 ENST00000367204.1 0.043243 1 REN 5972 __UNKNOWN__ __UNKNOWN__ 1 204131186 204131186 __UNKNOWN__ Silent SNP T T G rs5705 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:204131186T>G ENST00000272190.8 - 2 232 c.204A>C c.(202-204)acA>acC p.T68T REN_ENST00000367195.2_Silent_p.T68T NM_000537.3 NP_000528.1 P00797 RENI_HUMAN renin 68 NA angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cell maturation (GO:0048469)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|drinking behavior (GO:0042756)|hormone-mediated signaling pathway (GO:0009755)|kidney development (GO:0001822)|male gonad development (GO:0008584)|mesonephros development (GO:0001823)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of MAPK cascade (GO:0043408)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cAMP (GO:0051591)|response to cGMP (GO:0070305)|response to lipopolysaccharide (GO:0032496) extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular (GO:0005622)|plasma membrane (GO:0005886) aspartic-type endopeptidase activity (GO:0004190)|peptidase activity (GO:0008233)|receptor binding (GO:0005102) NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1) 19 all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109) Aliskiren(DB01258)|Remikiren(DB00212) TGTTGCCAAGTGTCAGCCTCT 0.582 NA G||| 852 0.170128 0.3177 0.1801 5008 , , NA 19665 0.0784 NA 0.1372 False NA ,,, NA NA NA 2504 0.092 NA NA NA NA 0 G 1313,3093 695.7+/-406.0 205,903,1095 207 163 178 204 1.8 0 1 dbSNP_52 178 1022,7578 772.1+/-407.7 63,896,3341 no coding-synonymous REN NM_000537.3 268,1799,4436 GG,GT,TT 11.8837,29.8003,17.9533 68/407 204131186 2335,10671 2203 4300 6503 SO:0001819 synonymous_variant BC047752 CCDS30981.1 1q32 2008-02-05 ENSG00000143839 ENSG00000143839 5972 3.4.23.15 9958 protein-coding gene gene with protein product 179820 NA Standard NM_000537 NM_000537 NA Approved uc001haq.2 P00797 OTTHUMG00000036059 ENST00000272190.8:c.204A>C chr1.hg19:g.204131186T>G NA Q6FI38|Q6T5C2 hg19 CCDS30981.1 0.02 13.288662 AAGxGTC COVERED NOVEL REN-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000087891.1 4 15.577588 KEEP 0 1 38 65 1940 TT 1 1 0 - 10 60 343 0 0 20.526958 291 60 10175 466 ENST00000272190.8 0.033223 1 PIK3C2B 5287 __UNKNOWN__ __UNKNOWN__ 1 204397427 204397427 __UNKNOWN__ Intron SNP G G T rs60317484 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:204397427G>T ENST00000367187.3 - 31 4955 PIK3C2B_ENST00000424712.2_Intron|RP11-739N20.2_ENST00000443515.1_RNA NM_002646.3 NP_002637.3 O00750 P3C2B_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta NA NA phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886) 1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091) breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 52 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) tgttccagatgtaaaaagact 0.398 NA T||| 1016 0.202875 0.0719 0.121 5008 , , NA 19493 0.4821 NA 0.0895 False NA ,,, NA NA NA 2504 0.2669 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Y11312 CCDS1446.1 1q32 2012-07-13 2012-07-13 ENSG00000133056 ENSG00000133056 5287 2.7.1.154 8972 protein-coding gene gene with protein product 602838 phosphoinositide-3-kinase, class 2, beta polypeptide NA 9144573, 9830063 Standard NM_002646 NM_002646 NA Approved C2-PI3K, PI3K-C2beta uc001haw.3 O00750 OTTHUMG00000036101 ENST00000367187.3:c.4399-79C>A chr1.hg19:g.204397427G>T NA O95666|Q5SW99 hg19 CCDS1446.1 0.02 1.845074 GATxTAA COVERED NOVEL PIK3C2B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000087965.1 0 7.223067 KEEP 0 0 0 24 831 GG 0.999909 0.990874 0 - 4 60 142 0 0 9.670703 58 60 2152 101 ENST00000367187.3 0.064516 0.990964 MDM4 4194 __UNKNOWN__ __UNKNOWN__ 1 204525489 204525489 __UNKNOWN__ 3'UTR SNP A A T rs181728059 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:204525489A>T ENST00000367182.3 + 0 8314 MDM4_ENST00000507825.2_Intron NM_001204171.1|NM_001278516.1|NM_001278517.1|NM_001278518.1|NM_001278519.1|NM_002393.4 NP_001191100.1|NP_001265445.1|NP_001265446.1|NP_001265447.1|NP_001265448.1|NP_002384.2 O15151 MDM4_HUMAN MDM4, p53 regulator NA NA cell proliferation (GO:0008283)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|G0 to G1 transition (GO:0045023)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821) nucleus (GO:0005634) enzyme binding (GO:0019899)|zinc ion binding (GO:0008270) central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 16 all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143) TCTGTGTGTGATGGGGGATAG 0.507 NA A GBM, bladder, retinoblastoma a||| 4 0.000798722 0.0 0.0 5008 , , NA 19176 0.004 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA Dom yes 1 1q32 4194 Mdm4 p53 binding protein homolog M 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF007111 CCDS1447.1, CCDS55674.1, CCDS55675.1, CCDS60396.1, CCDS73007.1, CCDS73008.1, CCDS73009.1 1q32 2014-03-03 2014-03-03 ENSG00000198625 ENSG00000198625 4194 6974 protein-coding gene gene with protein product 602704 mouse double minute 4, human homolog of; p53-binding protein, Mdm4, transformed 3T3 cell double minute 4, p53 binding protein (mouse), Mdm4 p53 binding protein homolog (mouse) NA 9226370, 14660608 Standard NM_002393 NM_002393 NA Approved MDMX, HDMX uc001hba.3 O15151 OTTHUMG00000035877 ENST00000367182.3:c.*6679A>T chr1.hg19:g.204525489A>T NA Q2M2Y2|Q32SL2|Q6GS18|Q8IV83 hg19 CCDS1447.1 0.02 1.563989 GTGxTGG COVERED NOVEL MDM4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000087415.2 3 8.404769 KEEP 0 0 0 28 846 AA 0.999997 0.999904 0 + 5 60 176 0 0 11.505814 89 60 3200 143 ENST00000367182.3 0.053191 0.999907 DSTYK 25778 __UNKNOWN__ __UNKNOWN__ 1 205133876 205133876 __UNKNOWN__ Intron SNP A A G rs12410216 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:205133876A>G ENST00000367162.3 - 4 1355 DSTYK_ENST00000367161.3_Intron|DSTYK_ENST00000367160.4_Intron NM_015375.2 NP_056190.1 Q6XUX3 DUSTY_HUMAN dual serine/threonine and tyrosine protein kinase NA NA cellular response to fibroblast growth factor stimulus (GO:0044344)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of kinase activity (GO:0033674) apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713) breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2) 14 ggtgtgagccaccgtgcccgg 0.488 NA A||| 1366 0.272764 0.0477 0.3098 5008 , , NA 17124 0.5169 NA 0.1809 False NA ,,, NA NA NA 2504 0.3937 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF068286 CCDS1451.1, CCDS1452.1 1q32 2008-12-18 2008-12-18 2008-12-18 ENSG00000133059 ENSG00000133059 25778 29043 protein-coding gene gene with protein product 612666 receptor interacting protein kinase 5 RIPK5 NA 15178406 Standard NM_015375 NM_015375 NA Approved KIAA0472, DustyPK, RIP5 uc001hbw.3 Q6XUX3 OTTHUMG00000037102 ENST00000367162.3:c.1325-793T>C chr1.hg19:g.205133876A>G NA B7ZL64|O75060|Q17R94|Q5RKT0|Q6IN87|Q6P997|Q86Y03|Q9P1S5 hg19 CCDS1451.1 0.02 -0.035094 GCCxCCG UNCOVERED NOVEL DSTYK-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000090345.1 2 2.404121 KEEP 1 0 0 8 225 AA 0 0 0 - 2 60 85 0 0 8.250133 2 60 77 16 ENST00000367162.3 0.5 0.019982 KLHDC8A 55220 __UNKNOWN__ __UNKNOWN__ 1 205306590 205306590 __UNKNOWN__ Silent SNP G G A rs3210952 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:205306590G>A ENST00000367156.3 - 9 1806 c.990C>T c.(988-990)gcC>gcT p.A330A KLHDC8A_ENST00000537168.1_Silent_p.A217A|KLHDC8A_ENST00000539253.1_Silent_p.A330A|KLHDC8A_ENST00000460687.1_Silent_p.A196A|KLHDC8A_ENST00000367155.3_Silent_p.A330A NM_001271863.1 NP_001258792.1 Q8IYD2 KLD8A_HUMAN kelch domain containing 8A 330 NA breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 14 Breast(84;0.23) BRCA - Breast invasive adenocarcinoma(75;0.117) CACCTCCCACGGCGAGGAGGC 0.587 NA g||| 894 0.178514 0.0219 0.17 5008 , , NA 19856 0.3383 NA 0.2127 False NA ,,, NA NA NA 2504 0.1963 NA NA NA NA 0 A 203,4203 126.6+/-163.6 1,201,2001 198 177 184 990 -10.9 0.2 1 dbSNP_105 184 1604,6996 299.3+/-304.4 151,1302,2847 no coding-synonymous KLHDC8A NM_018203.1 152,1503,4848 AA,AG,GG 18.6512,4.6074,13.8936 330/351 205306590 1807,11199 2203 4300 6503 SO:0001819 synonymous_variant CCDS30985.1 1q32.1 2008-02-05 ENSG00000162873 ENSG00000162873 55220 25573 protein-coding gene gene with protein product 614503 NA Standard NM_018203 NM_018203 NA Approved FLJ10748 uc031prx.1 Q8IYD2 OTTHUMG00000037199 ENST00000367156.3:c.990C>T chr1.hg19:g.205306590G>A NA B3KU70|Q9NVG5 hg19 CCDS30985.1 0.02 2.273387 CACxGCG COVERED NOVEL KLHDC8A-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000090397.1 1 6.621363 KEEP 0 0 0 22 766 GG 0.999879 0.996603 0 - 6 60 216 0 0 15.573564 64 60 2220 113 ENST00000367156.3 0.085714 0.996724 KLHDC8A 55220 __UNKNOWN__ __UNKNOWN__ 1 205312767 205312767 __UNKNOWN__ 5'UTR SNP G G T rs7526603 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:205312767G>T ENST00000367156.3 - 0 782 KLHDC8A_ENST00000537168.1_Intron|KLHDC8A_ENST00000539253.1_5'UTR|KLHDC8A_ENST00000460687.1_Intron|KLHDC8A_ENST00000367155.3_5'UTR NM_001271863.1 NP_001258792.1 Q8IYD2 KLD8A_HUMAN kelch domain containing 8A NA NA breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 14 Breast(84;0.23) BRCA - Breast invasive adenocarcinoma(75;0.117) GCCGGGAGAGGTGCGAGCGCG 0.741 NA G||| 1599 0.319289 0.1989 0.402 5008 , , NA 12294 0.3522 NA 0.4374 False NA ,,, NA NA NA 2504 0.2679 NA NA NA NA 0 G 808,2964 139,530,1217 5 8 7 1.2 0 1 dbSNP_116 7 2846,4940 600,1646,1647 no utr-5 KLHDC8A NM_018203.1 739,2176,2864 TT,TG,GG 36.5528,21.421,31.6145 205312767 3654,7904 1886 3893 5779 SO:0001623 5_prime_UTR_variant CCDS30985.1 1q32.1 2008-02-05 ENSG00000162873 ENSG00000162873 55220 25573 protein-coding gene gene with protein product 614503 NA Standard NM_018203 NM_018203 NA Approved FLJ10748 uc031prx.1 Q8IYD2 OTTHUMG00000037199 ENST00000367156.3:c.-35C>A chr1.hg19:g.205312767G>T NA B3KU70|Q9NVG5 hg19 CCDS30985.1 0.02 4.232884 GAGxTGC COVERED NOVEL KLHDC8A-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000090397.1 0 20.463803 KEEP 0 0 0 68 2383 GG 1 0.999998 0 - 8 60 278 0 0 18.891528 111 60 3974 216 ENST00000367156.3 0.067227 0.999998 SLC41A1 254428 __UNKNOWN__ __UNKNOWN__ 1 205779191 205779191 __UNKNOWN__ Intron SNP G G T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:205779191G>T ENST00000367137.3 - 2 1387 NM_173854.4 NP_776253.3 Q8IVJ1 S41A1_HUMAN solute carrier family 41 (magnesium transporter), member 1 NA NA transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) cation transmembrane transporter activity (GO:0008324) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 17 Breast(84;0.0799) BRCA - Breast invasive adenocarcinoma(75;0.0252) CCCTACTCAGGTCCTACCTGC 0.572 NA NA NA NA NA NA NA NA NA NA NA 0 74 70 71 NA NA 1 NA 205779191 2203 4300 6503 SO:0001627 intron_variant AJ514402 CCDS30988.1 1q32.1 2013-07-17 2013-07-17 ENSG00000133065 ENSG00000133065 254428 Solute carriers 19429 protein-coding gene gene with protein product 610801 NA 12810078, 18367447 Standard NM_173854 NA Approved MgtE uc001hdh.1 Q8IVJ1 OTTHUMG00000036000 ENST00000367137.3:c.372+6C>A chr1.hg19:g.205779191G>T NA Q63HJ4|Q658Z5|Q659A4|Q6MZK2 hg19 CCDS30988.1 0.02 6.042016 CAGxTCC COVERED NOVEL SLC41A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000087731.1 0 7.82488 KEEP 0 0 0 26 884 GG 0.999957 0.999957 0 - 7 60 237 0 0 14.750041 144 60 5060 189 ENST00000367137.3 0.046358 1 PM20D1 148811 __UNKNOWN__ __UNKNOWN__ 1 205814695 205814695 __UNKNOWN__ Intron SNP A A G rs71633564 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:205814695A>G ENST00000367136.4 - 3 301 PM20D1_ENST00000460624.1_Intron NM_152491.4 NP_689704.4 Q6GTS8 P20D1_HUMAN peptidase M20 domain containing 1 NA NA negative regulation of neuron death (GO:1901215)|regulation of defense response to virus by host (GO:0050691)|regulation of viral process (GO:0050792) extracellular vesicular exosome (GO:0070062) metal ion binding (GO:0046872)|peptidase activity (GO:0008233) breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1) 28 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0252) ACTAGAAGCAAAAAGGGCAGG 0.433 NA A||| 804 0.160543 0.0514 0.0634 5008 , , NA 20084 0.4206 NA 0.1004 False NA ,,, NA NA NA 2504 0.1708 NA NA NA NA 0 A 269,4137 138.8+/-174.5 8,253,1942 45 45 45 -2.3 0 1 dbSNP_130 45 674,7926 153.0+/-207.5 22,630,3648 no intron PM20D1 NM_152491.4 30,883,5590 GG,GA,AA 7.8372,6.1053,7.2505 205814695 943,12063 2203 4300 6503 SO:0001627 intron_variant CCDS1460.1 1q32.1 2008-02-05 ENSG00000162877 ENSG00000162877 148811 26518 protein-coding gene gene with protein product NA Standard NM_152491 NM_152491 NA Approved FLJ32569, Cps1 uc001hdj.3 Q6GTS8 OTTHUMG00000035999 ENST00000367136.4:c.257-10T>C chr1.hg19:g.205814695A>G NA Q6P4E3|Q96DM4 hg19 CCDS1460.1 0.02 7.062614 GCAxAAA COVERED NOVEL PM20D1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000087736.1 3 8.122376 KEEP 0 0 0 27 825 AA 0.999988 0.999988 0 - 9 60 337 1 0 22.686462 162 60 5825 221 ENST00000367136.4 0.052632 1 SLC26A9 115019 __UNKNOWN__ __UNKNOWN__ 1 205882454 205882454 __UNKNOWN__ 3'UTR SNP C C T rs2282430 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:205882454C>T ENST00000367135.3 - 0 4520 SLC26A9_ENST00000340781.4_3'UTR|SLC26A9_ENST00000367134.2_3'UTR NM_052934.3 NP_443166.1 Q7LBE3 S26A9_HUMAN solute carrier family 26 (anion exchanger), member 9 NA NA anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085) apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271) NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5) 52 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0458) TTCCCTCTGCCTCATGTGTTT 0.488 NA C||| 828 0.165335 0.062 0.0634 5008 , , NA 19993 0.4296 NA 0.0984 False NA ,,, NA NA NA 2504 0.1738 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF331525 CCDS30989.1, CCDS30990.1 1q32.1 2013-07-18 2013-07-18 ENSG00000174502 ENSG00000174502 115019 Solute carriers 14469 protein-coding gene gene with protein product anion transporter/exchanger-9 608481 solute carrier family 26, member 9 NA 11834742 Standard NM_052934 NM_134325 NA Approved uc001hdp.3 Q7LBE3 OTTHUMG00000036001 ENST00000367135.3:c.*2031G>A chr1.hg19:g.205882454C>T NA A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0 hg19 CCDS30990.1 0.02 10.606455 TGCxTCA COVERED NOVEL SLC26A9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000087742.1 0 13.779575 KEEP 0 1 32 57 2026 CC 1 1 0 - 11 60 374 0 0 22.792788 255 60 9535 402 ENST00000367135.3 0.041353 1 SLC26A9 115019 __UNKNOWN__ __UNKNOWN__ 1 205883890 205883890 __UNKNOWN__ 3'UTR SNP G G C rs11240589 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:205883890G>C ENST00000367135.3 - 0 3084 SLC26A9_ENST00000340781.4_3'UTR|SLC26A9_ENST00000367134.2_3'UTR NM_052934.3 NP_443166.1 Q7LBE3 S26A9_HUMAN solute carrier family 26 (anion exchanger), member 9 NA NA anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085) apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271) NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5) 52 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0458) GGATGATGGAGGGGGGGCGCA 0.607 NA G||| 584 0.116613 0.0499 0.0187 5008 , , NA 18274 0.4494 NA 0.003 False NA ,,, NA NA NA 2504 0.0501 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF331525 CCDS30989.1, CCDS30990.1 1q32.1 2013-07-18 2013-07-18 ENSG00000174502 ENSG00000174502 115019 Solute carriers 14469 protein-coding gene gene with protein product anion transporter/exchanger-9 608481 solute carrier family 26, member 9 NA 11834742 Standard NM_052934 NM_134325 NA Approved uc001hdp.3 Q7LBE3 OTTHUMG00000036001 ENST00000367135.3:c.*595C>G chr1.hg19:g.205883890G>C NA A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0 hg19 CCDS30990.1 0.02 7.468101 GGAxGGG COVERED NOVEL SLC26A9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000087742.1 1 3.310019 KEEP 0 0 0 11 358 GG 0.993072 0.993072 0 - 8 60 255 0 0 14.203039 228 60 8292 267 ENST00000367135.3 0.033898 1 SLC26A9 115019 __UNKNOWN__ __UNKNOWN__ 1 205886381 205886381 __UNKNOWN__ Intron SNP C C T rs11240591 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:205886381C>T ENST00000367135.3 - 20 2442 SLC26A9_ENST00000340781.4_Intron|SLC26A9_ENST00000367134.2_Intron NM_052934.3 NP_443166.1 Q7LBE3 S26A9_HUMAN solute carrier family 26 (anion exchanger), member 9 NA NA anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085) apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271) NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5) 52 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0458) CGCCCTGCTCCCACCCTCACA 0.582 NA C||| 1096 0.21885 0.0613 0.1599 5008 , , NA 16311 0.5357 NA 0.1243 False NA ,,, NA NA NA 2504 0.2444 NA NA NA NA 0 C , 320,4086 172.3+/-202.3 12,296,1895 199 184 189 , 0.5 0 1 dbSNP_120 189 879,7721 199.3+/-243.4 56,767,3477 no intron,intron SLC26A9 NM_052934.3,NM_134325.2 , 68,1063,5372 TT,TC,CC 10.2209,7.2628,9.2188 , , 205886381 1199,11807 2203 4300 6503 SO:0001627 intron_variant AF331525 CCDS30989.1, CCDS30990.1 1q32.1 2013-07-18 2013-07-18 ENSG00000174502 ENSG00000174502 115019 Solute carriers 14469 protein-coding gene gene with protein product anion transporter/exchanger-9 608481 solute carrier family 26, member 9 NA 11834742 Standard NM_052934 NM_134325 NA Approved uc001hdp.3 Q7LBE3 OTTHUMG00000036001 ENST00000367135.3:c.2328+29G>A chr1.hg19:g.205886381C>T NA A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0 hg19 CCDS30990.1 0.02 8.657917 CTCxCAC COVERED NOVEL SLC26A9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000087742.1 0 13.543415 KEEP 0 0 0 45 1563 CC 1 1 0 - 8 60 284 0 0 17.376102 208 60 7603 327 ENST00000367135.3 0.037037 1 SLC26A9 115019 __UNKNOWN__ __UNKNOWN__ 1 205892411 205892411 __UNKNOWN__ Intron SNP T T C rs3811427 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:205892411T>C ENST00000367135.3 - 15 1773 SLC26A9_ENST00000340781.4_Intron|SLC26A9_ENST00000367134.2_Intron NM_052934.3 NP_443166.1 Q7LBE3 S26A9_HUMAN solute carrier family 26 (anion exchanger), member 9 NA NA anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085) apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271) NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5) 52 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0458) CTGCTTCCATTTTCCGGCCAC 0.562 NA C||| 1062 0.212061 0.0446 0.1484 5008 , , NA 17766 0.5516 NA 0.1054 False NA ,,, NA NA NA 2504 0.2434 NA NA NA NA 0 C , 206,2930 6,194,1368 83 77 79 , -0.8 0 1 dbSNP_107 79 631,6533 33,565,2984 no intron,intron SLC26A9 NM_052934.3,NM_134325.2 , 39,759,4352 CC,CT,TT 8.8079,6.5689,8.1262 , , 205892411 837,9463 1568 3582 5150 SO:0001627 intron_variant AF331525 CCDS30989.1, CCDS30990.1 1q32.1 2013-07-18 2013-07-18 ENSG00000174502 ENSG00000174502 115019 Solute carriers 14469 protein-coding gene gene with protein product anion transporter/exchanger-9 608481 solute carrier family 26, member 9 NA 11834742 Standard NM_052934 NM_134325 NA Approved uc001hdp.3 Q7LBE3 OTTHUMG00000036001 ENST00000367135.3:c.1659+51A>G chr1.hg19:g.205892411T>C NA A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0 hg19 CCDS30990.1 0.02 6.153267 CATxTTC COVERED NOVEL SLC26A9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000087742.1 1 11.131092 KEEP 0 0 0 37 1106 TT 1 1 0 - 6 60 226 0 0 13.831122 189 60 6687 273 ENST00000367135.3 0.030769 1 SLC26A9 115019 __UNKNOWN__ __UNKNOWN__ 1 205892415 205892415 __UNKNOWN__ Intron SNP C C T rs3811426 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:205892415C>T ENST00000367135.3 - 15 1773 SLC26A9_ENST00000340781.4_Intron|SLC26A9_ENST00000367134.2_Intron NM_052934.3 NP_443166.1 Q7LBE3 S26A9_HUMAN solute carrier family 26 (anion exchanger), member 9 NA NA anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085) apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271) NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5) 52 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0458) TTCCATTTTCCGGCCACTCTC 0.567 NA T||| 1063 0.21226 0.0446 0.1484 5008 , , NA 17963 0.5516 NA 0.1054 False NA ,,, NA NA NA 2504 0.2444 NA NA NA NA 0 T , 284,4122 800.0+/-415.5 6,272,1925 73 72 72 , -5 0 1 dbSNP_107 72 746,7854 785.2+/-407.6 40,666,3594 no intron,intron SLC26A9 NM_052934.3,NM_134325.2 , 46,938,5519 TT,TC,CC 8.6744,6.4458,7.9194 , , 205892415 1030,11976 2203 4300 6503 SO:0001627 intron_variant AF331525 CCDS30989.1, CCDS30990.1 1q32.1 2013-07-18 2013-07-18 ENSG00000174502 ENSG00000174502 115019 Solute carriers 14469 protein-coding gene gene with protein product anion transporter/exchanger-9 608481 solute carrier family 26, member 9 NA 11834742 Standard NM_052934 NM_134325 NA Approved uc001hdp.3 Q7LBE3 OTTHUMG00000036001 ENST00000367135.3:c.1659+47G>A chr1.hg19:g.205892415C>T NA A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0 hg19 CCDS30990.1 0.02 5.962722 TTCxGGC COVERED NOVEL SLC26A9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000087742.1 1 11.135559 KEEP 0 0 0 37 1252 CC 1 1 0 - 6 60 218 0 0 13.04681 188 60 6541 276 ENST00000367135.3 0.030928 1 SLC26A9 115019 __UNKNOWN__ __UNKNOWN__ 1 205897876 205897876 __UNKNOWN__ Intron SNP C C T rs12568779 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:205897876C>T ENST00000367135.3 - 8 1067 SLC26A9_ENST00000340781.4_Intron|SLC26A9_ENST00000367134.2_Intron NM_052934.3 NP_443166.1 Q7LBE3 S26A9_HUMAN solute carrier family 26 (anion exchanger), member 9 NA NA anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085) apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271) NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5) 52 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0458) TAGAGTTCATCTTGTCTCCCT 0.532 NA C||| 1054 0.210463 0.0386 0.1412 5008 , , NA 18556 0.5675 NA 0.0944 False NA ,,, NA NA NA 2504 0.2434 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF331525 CCDS30989.1, CCDS30990.1 1q32.1 2013-07-18 2013-07-18 ENSG00000174502 ENSG00000174502 115019 Solute carriers 14469 protein-coding gene gene with protein product anion transporter/exchanger-9 608481 solute carrier family 26, member 9 NA 11834742 Standard NM_052934 NM_134325 NA Approved uc001hdp.3 Q7LBE3 OTTHUMG00000036001 ENST00000367135.3:c.953+78G>A chr1.hg19:g.205897876C>T NA A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0 hg19 CCDS30990.1 0.02 9.909121 CATxTTG COVERED NOVEL SLC26A9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000087742.1 1 15.651561 KEEP 0 0 0 52 1896 CC 1 1 0 - 10 60 362 0 0 21.954705 289 60 11093 460 ENST00000367135.3 0.033445 1 SRGAP2 23380 __UNKNOWN__ __UNKNOWN__ 1 206635570 206635570 __UNKNOWN__ 3'UTR SNP C C T rs11576488 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:206635570C>T ENST00000414007.1 + 0 3601 O75044 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 2 NA NA actin filament severing (GO:0051014)|axon guidance (GO:0007411)|dendritic spine development (GO:0060996)|extension of a leading process involved in cell motility in cerebral cortex radial glia guided migration (GO:0021816)|filopodium assembly (GO:0046847)|lamellipodium assembly involved in ameboidal cell migration (GO:0003363)|negative regulation of neuron migration (GO:2001223)|neuron projection morphogenesis (GO:0048812)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446) cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine head (GO:0044327)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211) protein homodimerization activity (GO:0042803)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365) NS(1)|breast(1)|kidney(1)|lung(1) 4 Breast(84;0.137) AAGTACACCCCCGTCTTATTA 0.423 NA C||| 1469 0.293331 0.0817 0.3588 5008 , , NA 17267 0.6508 NA 0.1889 False NA ,,, NA NA NA 2504 0.272 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB007925 CCDS73017.1 1q32.1 2014-08-13 2004-11-12 2004-11-12 ENSG00000163486 ENSG00000266028 23380 Rho GTPase activating proteins 19751 protein-coding gene gene with protein product 606524 formin binding protein 2 FNBP2 NA 15046868, 11672528 Standard NM_015326 XM_005277510 NA Approved KIAA0456, ARHGAP34, SRGAP2A uc001hdy.3 O75044 OTTHUMG00000184381 ENST00000414007.1:c.*805C>T chr1.hg19:g.206635570C>T NA hg19 0.02 8.017377 CCCxCGT COVERED NOVEL SRGAP2-201 KNOWN basic protein_coding NA protein_coding 4 23.175849 KEEP 0 0 0 77 2745 CC 1 1 0 + 12 60 423 0 0 27.524808 220 60 8091 387 ENST00000414007.1 0.051724 1 RASSF5 83593 __UNKNOWN__ __UNKNOWN__ 1 206730641 206730641 __UNKNOWN__ Intron SNP C C A rs71633591|rs386638796 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:206730641C>A ENST00000355294.4 + 2 636 RASSF5_ENST00000367117.3_Intron|RASSF5_ENST00000304534.8_5'UTR NM_182663.2 NP_872604.1 Q8WWW0 RASF5_HUMAN Ras association (RalGDS/AF-6) domain family member 5 NA NA apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein localization to nucleus (GO:1900180) cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634) metal ion binding (GO:0046872) endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1) 8 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.166) GCGAGCCGGGCGCCCGGGGCT 0.771 NA C||| 1146 0.228834 0.1694 0.2233 5008 , , NA 9387 0.2292 NA 0.2555 False NA ,,, NA NA NA 2504 0.2853 NA NA NA GBM(162;656 1984 11916 22872 31529) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC004270 CCDS1463.1, CCDS1464.1, CCDS30998.1 1q31 2014-04-10 2008-02-22 ENSG00000136653 ENSG00000266094 83593 17609 protein-coding gene gene with protein product 607020 NA 11978988, 11965544 Standard NM_031437 NM_182663 NA Approved Maxp1, NORE1, RAPL uc001hed.3 Q8WWW0 OTTHUMG00000184616 ENST00000355294.4:c.579+19019C>A chr1.hg19:g.206730641C>A NA A8K1E6|Q5SY32|Q8WWV9|Q8WXF4|Q9BT99 hg19 CCDS30998.1 0.02 2.168116 GGGxGCC COVERED NOVEL RASSF5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000088469.1 0 13.54049 KEEP 0 0 0 45 1519 CC 1 0.999407 0 + 4 60 135 0 0 8.476172 78 60 2716 168 ENST00000355294.4 0.04878 0.999407 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 206786004 206786004 __UNKNOWN__ IGR SNP T T A rs3813968 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:206786004T>A NA NA EIF2D (100 upstream) : RP11-343H5.6 (21989 downstream) NA NA NA GCGGCTCGGGTTCCCCGTCCG 0.637 NA T||| 1001 0.19988 0.1044 0.2392 5008 , , NA 11232 0.1647 NA 0.333 False NA ,,, NA NA NA 2504 0.2004 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.206786004T>A NA hg19 0.02 4.130484 GGGxTCC COVERED NOVEL 0 0 9.056205 KEEP 0 1 28 40 1225 TT 1 0.999994 0 6 60 209 0 0 13.716298 102 60 3329 248 0.055556 0.999994 MAPKAPK2 9261 __UNKNOWN__ __UNKNOWN__ 1 206905043 206905043 __UNKNOWN__ Silent SNP C C T rs4073250 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:206905043C>T ENST00000367103.3 + 8 1144 c.951C>T c.(949-951)acC>acT p.T317T MAPKAPK2_ENST00000479009.1_3'UTR|MAPKAPK2_ENST00000294981.4_Silent_p.T317T NM_004759.4|NM_032960.3 NP_004750.1|NP_116584.2 P49137 MAPK2_HUMAN mitogen-activated protein kinase-activated protein kinase 2 317 Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}. NA 3'-UTR-mediated mRNA stabilization (GO:0070935)|activation of MAPK activity (GO:0000187)|arachidonic acid metabolic process (GO:0019369)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|G2 DNA damage checkpoint (GO:0031572)|gene expression (GO:0010467)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|leukotriene metabolic process (GO:0006691)|macropinocytosis (GO:0044351)|MAPK cascade (GO:0000165)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of interleukin-6 production (GO:0032675)|regulation of tumor necrosis factor production (GO:0032680)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vascular endothelial growth factor receptor signaling pathway (GO:0048010) centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871) central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 19 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.211) TGACCATCACCGAGTTTATGA 0.562 NA C||| 979 0.195487 0.1838 0.1729 5008 , , NA 18715 0.0526 NA 0.2137 False NA ,,, NA NA NA 2504 0.3558 NA NA NA NA 0 C , 847,3559 334.9+/-303.7 95,657,1451 132 131 131 951,951 -10.2 0 1 dbSNP_108 131 1652,6948 305.2+/-307.3 168,1316,2816 no coding-synonymous,coding-synonymous MAPKAPK2 NM_004759.4,NM_032960.3 , 263,1973,4267 TT,TC,CC 19.2093,19.2238,19.2142 , 317/371,317/401 206905043 2499,10507 2203 4300 6503 SO:0001819 synonymous_variant U12779 CCDS1466.1, CCDS31001.1 1q32 2008-02-05 ENSG00000162889 ENSG00000162889 9261 6887 protein-coding gene gene with protein product 602006 NA 8179591, 8280084 Standard NM_004759 NM_004759 NA Approved uc001hem.2 P49137 OTTHUMG00000036342 ENST00000367103.3:c.951C>T chr1.hg19:g.206905043C>T NA Q5SY30|Q5SY41|Q8IYD6 hg19 CCDS31001.1 0.02 15.003537 CACxGAG COVERED NOVEL MAPKAPK2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000088465.1 4 19.261623 KEEP 0 0 0 64 2178 CC 1 1 0 + 13 60 474 0 0 28.894502 375 60 13124 522 ENST00000367103.3 0.033505 1 IL19 29949 __UNKNOWN__ __UNKNOWN__ 1 207016125 207016125 __UNKNOWN__ 3'UTR SNP C C G rs1798 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:207016125C>G ENST00000340758.2 + 0 831 NM_153758.2 NP_715639.1 Q9UHD0 IL19_HUMAN interleukin 19 NA NA apoptotic process (GO:0006915)|immune response (GO:0006955)|interleukin-6 biosynthetic process (GO:0042226)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|reactive oxygen species metabolic process (GO:0072593)|signal transduction (GO:0007165) extracellular region (GO:0005576)|extracellular space (GO:0005615) cytokine activity (GO:0005125) central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1) 7 BRCA - Breast invasive adenocarcinoma(75;0.211) TTGAAAATAGCCAAAAAGTCT 0.502 NA C||| 930 0.185703 0.0318 0.2363 5008 , , NA 20649 0.3532 NA 0.1541 False NA ,,, NA NA NA 2504 0.2178 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF192498 CCDS1468.1, CCDS1469.1 1q32.2 2008-07-18 ENSG00000142224 ENSG00000142224 29949 Interleukins and interleukin receptors 5990 protein-coding gene gene with protein product melanoma differentiation associated protein-like protein 605687 NA 11196675 Standard NM_153758 NM_153758 NA Approved IL-19, MDA1, ZMDA1, IL-10C, NG.1 uc001heo.3 Q9UHD0 OTTHUMG00000036387 ENST00000340758.2:c.*158C>G chr1.hg19:g.207016125C>G NA B6VEV9|Q5VUT3|Q96QR4|Q9NUA0 hg19 CCDS1468.1 0.02 6.787194 TAGxCAA COVERED NOVEL IL19-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000088566.3 1 2.407704 KEEP 0 0 0 8 273 CC 0.99257 0.99257 0 + 12 60 414 0 0 28.895664 145 60 5123 166 ENST00000340758.2 0.076433 1 FAIM3 9214 __UNKNOWN__ __UNKNOWN__ 1 207081654 207081654 __UNKNOWN__ Intron SNP A A G rs1713231 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:207081654A>G ENST00000367091.3 - 7 1188 FAIM3_ENST00000528654.1_Intron|FAIM3_ENST00000420007.2_Intron|FAIM3_ENST00000442471.2_Intron NM_005449.4 NP_005440.1 O60667 FAIM3_HUMAN Fas apoptotic inhibitory molecule 3 NA NA cellular defense response (GO:0006968)|immune system process (GO:0002376)|negative regulation of apoptotic process (GO:0043066) extracellular region (GO:0005576)|integral component of membrane (GO:0016021) breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 15 Breast(84;0.201) TGCGGGACCCAGGGGCAGCAG 0.582 NA A||| 1272 0.253994 0.2065 0.3098 5008 , , NA 19206 0.1349 NA 0.4533 False NA ,,, NA NA NA 2504 0.1963 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF057557 CCDS1473.1, CCDS44304.1 1q32.1 2013-01-11 ENSG00000162894 ENSG00000162894 9214 Immunoglobulin superfamily / Immunoglobulin-like domain containing 14315 protein-coding gene gene with protein product 606015 NA 9586636, 1563211 Standard NM_005449 NM_005449 NA Approved TOSO uc001hey.3 O60667 OTTHUMG00000036457 ENST00000367091.3:c.1044+1152T>C chr1.hg19:g.207081654A>G NA A8K7J2|B7Z6Z0|D9MWM3 hg19 CCDS1473.1 0.02 4.05636 CCCxGGG COVERED NOVEL FAIM3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000088677.1 0 15.344278 KEEP 0 0 0 51 1566 AA 1 1 0 - 6 60 213 0 0 13.430448 133 60 5002 239 ENST00000367091.3 0.043165 1 FAIM3 9214 __UNKNOWN__ __UNKNOWN__ 1 207087435 207087435 __UNKNOWN__ Silent SNP C C T rs167082 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:207087435C>T ENST00000367091.3 - 2 185 c.42G>A c.(40-42)tcG>tcA p.S14S FAIM3_ENST00000528654.1_Intron|FAIM3_ENST00000420007.2_Silent_p.S14S|FAIM3_ENST00000442471.2_Intron NM_005449.4 NP_005440.1 O60667 FAIM3_HUMAN Fas apoptotic inhibitory molecule 3 14 NA cellular defense response (GO:0006968)|immune system process (GO:0002376)|negative regulation of apoptotic process (GO:0043066) extracellular region (GO:0005576)|integral component of membrane (GO:0016021) breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 15 Breast(84;0.201) TCAGGGCCCCCGATACTGCAG 0.547 NA C||| 1223 0.244209 0.1717 0.3069 5008 , , NA 17435 0.1339 NA 0.4543 False NA ,,, NA NA NA 2504 0.1953 NA NA NA NA 0 C ,, 889,3517 338.9+/-305.5 89,711,1403 57 53 54 ,42,42 -8 0 1 dbSNP_79 54 4007,4593 541.3+/-384.0 953,2101,1246 no intron,coding-synonymous,coding-synonymous FAIM3 NM_001142473.1,NM_001193338.1,NM_005449.4 ,, 1042,2812,2649 TT,TC,CC 46.593,20.177,37.6442 ,, ,14/307,14/391 207087435 4896,8110 2203 4300 6503 SO:0001819 synonymous_variant AF057557 CCDS1473.1, CCDS44304.1 1q32.1 2013-01-11 ENSG00000162894 ENSG00000162894 9214 Immunoglobulin superfamily / Immunoglobulin-like domain containing 14315 protein-coding gene gene with protein product 606015 NA 9586636, 1563211 Standard NM_005449 NM_005449 NA Approved TOSO uc001hey.3 O60667 OTTHUMG00000036457 ENST00000367091.3:c.42G>A chr1.hg19:g.207087435C>T NA A8K7J2|B7Z6Z0|D9MWM3 hg19 CCDS1473.1 0.02 3.786782 CCCxGAT COVERED NOVEL FAIM3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000088677.1 0 5.717041 KEEP 0 0 0 19 608 CC 0.99986 0.99986 0 - 5 60 182 0 0 11.114668 142 60 4674 190 ENST00000367091.3 0.034014 1 PIGR 5284 __UNKNOWN__ __UNKNOWN__ 1 207108908 207108908 __UNKNOWN__ Missense_Mutation SNP C C T rs200596025 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:207108908C>T ENST00000356495.4 - 5 1484 c.1301G>A c.(1300-1302)cGg>cAg p.R434Q NM_002644.3 NP_002635.2 P01833 PIGR_HUMAN polymeric immunoglobulin receptor 434 Ig-like V-type 4. NA detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc receptor signaling pathway (GO:0038093)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|receptor clustering (GO:0043113)|retina homeostasis (GO:0001895) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) polymeric immunoglobulin receptor activity (GO:0001792) central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 GCCGGCGTCCCGGCTGGTGAG 0.607 NA OREG0014186 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) c||| 1 0.000199681 0.0 0.0 5008 , , NA 19467 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 C GLN/ARG 1,4405 2.1+/-5.4 0,1,2202 55 56 56 1301 4.3 0.2 1 56 0,8600 0,0,4300 no missense PIGR NM_002644.3 43 0,1,6502 TT,TC,CC 0.0,0.0227,0.0077 benign 434/765 207108908 1,13005 2203 4300 6503 SO:0001583 missense CCDS1474.1 1q31-q41 2013-01-11 ENSG00000162896 ENSG00000162896 5284 Immunoglobulin superfamily / V-set domain containing 8968 protein-coding gene gene with protein product 173880 NA Standard NM_002644 NM_002644 NA Approved uc001hez.3 P01833 OTTHUMG00000036581 ENST00000356495.4:c.1301G>A chr1.hg19:g.207108908C>T ENSP00000348888:p.Arg434Gln 2165 Q68D81|Q8IZY7 hg19 CCDS1474.1 0.02 7.144746 TCCxGGC COVERED 1 4.578754578754579E-4 0 0.0 0 0.0 1 0.0017482517482517483 0 0.0 c 0.046 -1.266023 0.01433 2.27E-4 0.0 ENSG00000162896 ENST00000356495 T 0.04119 3.7 5.45 4.32 0.51571 Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1); 1.565970 0.03254 N 0.182263 T 0.02848 0.0085 N 0.02916 -0.46 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.41431 -0.9509 10 0.12103 T 0.63 -12.3513 8.6153 0.33829 0.0:0.1572:0.0:0.8428 . 434 P01833 PIGR_HUMAN Q 434 ENSP00000348888:R434Q ENSP00000348888:R434Q R - 2 0 PIGR 205175531 0.000000 0.05858 0.202000 0.23494 0.057000 0.15508 0.127000 0.15790 1.001000 0.39076 -0.285000 0.09966 CGG NOVEL PIGR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000088975.1 0 10.835028 KEEP 0 0 0 36 1263 CC 0.999999 0.999999 0 - 13 60 487 0 0 34.865786 160 60 5621 254 ENST00000356495.4 0.075145 1 PIGR 5284 __UNKNOWN__ __UNKNOWN__ 1 207109116 207109116 __UNKNOWN__ Missense_Mutation SNP C C T rs2275531 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:207109116C>T ENST00000356495.4 - 5 1276 c.1093G>A c.(1093-1095)Ggc>Agc p.G365S NM_002644.3 NP_002635.2 P01833 PIGR_HUMAN polymeric immunoglobulin receptor 365 Ig-like V-type 4. NA G -> S (in dbSNP:rs2275531). {ECO:0000269|PubMed:1355431, ECO:0000269|PubMed:1682231, ECO:0000269|PubMed:17974005, ECO:0000269|PubMed:1859628, ECO:0000269|PubMed:2920039, ECO:0000269|PubMed:6526384}. detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc receptor signaling pathway (GO:0038093)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|receptor clustering (GO:0043113)|retina homeostasis (GO:0001895) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) polymeric immunoglobulin receptor activity (GO:0001792) central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 GCCACAGAGCCTCCTGCCACC 0.612 NA OREG0014186 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) C||| 1484 0.296326 0.1944 0.3271 5008 , , NA 19680 0.3284 NA 0.4563 False NA ,,, NA NA NA 2504 0.2147 NA NA NA NA 0 C SER/GLY 963,3441 114,735,1353 31 34 33 1093 4.6 1 1 dbSNP_100 33 3938,4662 920,2098,1282 yes missense PIGR NM_002644.3 56 1034,2833,2635 TT,TC,CC 45.7907,21.8665,37.6884 probably-damaging 365/765 207109116 4901,8103 2202 4300 6502 SO:0001583 missense CCDS1474.1 1q31-q41 2013-01-11 ENSG00000162896 ENSG00000162896 5284 Immunoglobulin superfamily / V-set domain containing 8968 protein-coding gene gene with protein product 173880 NA Standard NM_002644 NM_002644 NA Approved uc001hez.3 P01833 OTTHUMG00000036581 ENST00000356495.4:c.1093G>A chr1.hg19:g.207109116C>T ENSP00000348888:p.Gly365Ser 2165 Q68D81|Q8IZY7 hg19 CCDS1474.1 0.02 3.959805 AGCxTCC COVERED 764 0.3498168498168498 111 0.22560975609756098 134 0.3701657458563536 179 0.3129370629370629 340 0.44854881266490765 C 15.25 2.777910 0.49786 0.218665 0.457907 ENSG00000162896 ENST00000356495 T 0.04275 3.66 5.55 4.64 0.57946 Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1); 0.169823 0.42172 N 0.000742 T 0.00012 0.0000 M 0.75615 2.305 0.31681 P 0.643169 D 0.89917 1.0 D 0.97110 1.0 T 0.47509 -0.9112 9 0.44086 T 0.13 -22.293 8.6869 0.34243 0.0:0.8266:0.0:0.1734 rs2275531;rs2275531 365 P01833 PIGR_HUMAN S 365 ENSP00000348888:G365S ENSP00000348888:G365S G - 1 0 PIGR 205175739 0.755000 0.28372 1.000000 0.80357 0.242000 0.25591 0.601000 0.24119 1.352000 0.45808 -0.140000 0.14226 GGC NOVEL PIGR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000088975.1 2 6.019785 KEEP 0 0 0 20 733 CC 0.999863 0.999863 0 - 7 60 241 0 0 15.164983 143 60 5396 209 ENST00000356495.4 0.046667 1 PIGR 5284 __UNKNOWN__ __UNKNOWN__ 1 207109167 207109167 __UNKNOWN__ Intron SNP G G A rs6695632 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:207109167G>A ENST00000356495.4 - 5 1229 NM_002644.3 NP_002635.2 P01833 PIGR_HUMAN polymeric immunoglobulin receptor NA NA detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc receptor signaling pathway (GO:0038093)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|receptor clustering (GO:0043113)|retina homeostasis (GO:0001895) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) polymeric immunoglobulin receptor activity (GO:0001792) central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 GTGGACTCTGGAAGCACAGAC 0.612 NA OREG0014186 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) G||| 1436 0.286741 0.1596 0.3242 5008 , , NA 19460 0.3284 NA 0.4563 False NA ,,, NA NA NA 2504 0.2147 NA NA NA NA 0 G 811,3583 91,629,1477 20 22 21 -3.1 0.3 1 dbSNP_116 21 3870,4702 913,2044,1329 no intron PIGR NM_002644.3 1004,2673,2806 AA,AG,GG 45.147,18.457,36.1021 207109167 4681,8285 2197 4286 6483 SO:0001627 intron_variant CCDS1474.1 1q31-q41 2013-01-11 ENSG00000162896 ENSG00000162896 5284 Immunoglobulin superfamily / V-set domain containing 8968 protein-coding gene gene with protein product 173880 NA Standard NM_002644 NM_002644 NA Approved uc001hez.3 P01833 OTTHUMG00000036581 ENST00000356495.4:c.1046-4C>T chr1.hg19:g.207109167G>A 2165 Q68D81|Q8IZY7 hg19 CCDS1474.1 0.02 1.919093 CTGxAAG COVERED NOVEL PIGR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000088975.1 1 3.610612 KEEP 0 0 0 12 375 GG 0.993634 0.99359 0 - 6 60 204 0 0 13.439207 93 60 3490 118 ENST00000356495.4 0.060606 0.999956 PIGR 5284 __UNKNOWN__ __UNKNOWN__ 1 207113755 207113755 __UNKNOWN__ Intron SNP G G C rs2007272 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:207113755G>C ENST00000356495.4 - 2 227 NM_002644.3 NP_002635.2 P01833 PIGR_HUMAN polymeric immunoglobulin receptor NA NA detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc receptor signaling pathway (GO:0038093)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|receptor clustering (GO:0043113)|retina homeostasis (GO:0001895) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) polymeric immunoglobulin receptor activity (GO:0001792) central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 TCTGATTTTAGTGTCCCCAGG 0.567 NA G||| 1451 0.289736 0.1861 0.3199 5008 , , NA 18001 0.3294 NA 0.4423 False NA ,,, NA NA NA 2504 0.2106 NA NA NA NA 0 G 296,1088 35,226,431 29 37 34 3.3 0 1 dbSNP_92 34 1418,1764 313,792,486 no intron PIGR NM_002644.3 348,1018,917 CC,CG,GG 44.5632,21.3873,37.5383 207113755 1714,2852 692 1591 2283 SO:0001627 intron_variant CCDS1474.1 1q31-q41 2013-01-11 ENSG00000162896 ENSG00000162896 5284 Immunoglobulin superfamily / V-set domain containing 8968 protein-coding gene gene with protein product 173880 NA Standard NM_002644 NM_002644 NA Approved uc001hez.3 P01833 OTTHUMG00000036581 ENST00000356495.4:c.43+78C>G chr1.hg19:g.207113755G>C NA Q68D81|Q8IZY7 hg19 CCDS1474.1 0.02 1.872304 TTAxTGT COVERED NOVEL PIGR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000088975.1 2 3.009845 KEEP 0 0 0 10 355 GG 0.992708 0.992603 0 - 7 60 250 0 0 17.558752 86 60 3165 108 ENST00000356495.4 0.075269 0.999895 FCAMR 83953 __UNKNOWN__ __UNKNOWN__ 1 207143422 207143422 __UNKNOWN__ Intron SNP A A G rs1856746 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:207143422A>G ENST00000324852.4 - 1 514 FCAMR_ENST00000450945.2_Intron|FCAMR_ENST00000400962.3_Intron NM_001170631.1 NP_001164102.1 Q8WWV6 FCAMR_HUMAN Fc receptor, IgA, IgM, high affinity NA NA immune system process (GO:0002376) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1) 11 AGGAGAAAGCATCATTTCACC 0.517 NA G||| 2755 0.55012 0.9319 0.5101 5008 , , NA 19144 0.4425 NA 0.4702 False NA ,,, NA NA NA 2504 0.2556 NA NA NA Ovarian(199;1883 2142 16966 44409 45154) NA 0 G ,, 2678,458 1148,382,38 151 139 143 ,, 1 0 1 dbSNP_92 143 3353,3811 773,1807,1002 no intron,intron,intron FCAMR NM_001122979.2,NM_001170631.1,NM_032029.4 ,, 1921,2189,1040 GG,GA,AA 46.8035,14.6046,41.4466 ,, ,, 207143422 6031,4269 1568 3582 5150 SO:0001627 intron_variant AF354295 CCDS41460.1, CCDS53468.1 1q32.1 2013-01-14 ENSG00000162897 ENSG00000162897 83953 CD molecules, Immunoglobulin superfamily / V-set domain containing 24692 protein-coding gene gene with protein product 605484 NA 11779189 Standard NM_032029 NM_001122979 NA Approved FKSG87, FCA/MR, CD351 uc001hfa.4 Q8WWV6 OTTHUMG00000036579 ENST00000324852.4:c.39+9T>C chr1.hg19:g.207143422A>G NA Q32M82|Q8WWV5|Q96SA2 hg19 CCDS53468.1 0.02 10.838132 AGCxTCA COVERED NOVEL FCAMR-002 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000088969.2 0 6.620354 KEEP 0 0 0 22 699 AA 0.999879 0.999879 0 - 12 60 426 0 0 27.405291 239 60 8799 328 ENST00000324852.4 0.047809 1 FCAMR 83953 __UNKNOWN__ __UNKNOWN__ 1 207143550 207143550 __UNKNOWN__ 5'UTR SNP C C T rs1340232 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:207143550C>T ENST00000324852.4 - 0 395 FCAMR_ENST00000400962.3_5'UTR NM_001170631.1 NP_001164102.1 Q8WWV6 FCAMR_HUMAN Fc receptor, IgA, IgM, high affinity NA NA immune system process (GO:0002376) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1) 11 TAGTTGCTCTCCTTTAAACCT 0.507 NA T||| 866 0.172923 0.2141 0.1499 5008 , , NA 20105 0.244 NA 0.1551 False NA ,,, NA NA NA 2504 0.0787 NA NA NA Ovarian(199;1883 2142 16966 44409 45154) NA 0 T ,, 245,1139 17,211,464 47 41 43 ,, 1.5 0 1 dbSNP_88 43 594,2588 58,478,1055 no utr-5,utr-5,utr-5 FCAMR NM_001122979.2,NM_001170631.1,NM_032029.4 ,, 75,689,1519 TT,TC,CC 18.6675,17.7023,18.3749 ,, ,, 207143550 839,3727 692 1591 2283 SO:0001623 5_prime_UTR_variant AF354295 CCDS41460.1, CCDS53468.1 1q32.1 2013-01-14 ENSG00000162897 ENSG00000162897 83953 CD molecules, Immunoglobulin superfamily / V-set domain containing 24692 protein-coding gene gene with protein product 605484 NA 11779189 Standard NM_032029 NM_001122979 NA Approved FKSG87, FCA/MR, CD351 uc001hfa.4 Q8WWV6 OTTHUMG00000036579 ENST00000324852.4:c.-80G>A chr1.hg19:g.207143550C>T NA Q32M82|Q8WWV5|Q96SA2 hg19 CCDS53468.1 0.02 12.74044 TCTxCTT COVERED NOVEL FCAMR-002 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000088969.2 2 8.126811 KEEP 0 0 0 27 982 CC 0.999988 0.999988 0 - 13 60 454 0 0 28.046499 305 60 11270 421 ENST00000324852.4 0.040881 1 CR2 1380 __UNKNOWN__ __UNKNOWN__ 1 207642151 207642151 __UNKNOWN__ Missense_Mutation SNP G G A rs141831783 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:207642151G>A ENST00000367057.3 + 4 830 c.641G>A c.(640-642)cGc>cAc p.R214H CR2_ENST00000485707.1_3'UTR|CR2_ENST00000367058.3_Missense_Mutation_p.R214H|CR2_ENST00000458541.2_Missense_Mutation_p.R214H|CR2_ENST00000367059.3_Missense_Mutation_p.R214H NM_001006658.2 NP_001006659.1 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) receptor 2 214 Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}. NA B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087) external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888) NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1) 69 TTAGAGGCACGCTGTAAATCT 0.408 NA G||| 4 0.000798722 0.0 0.0 5008 , , NA 20257 0.004 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 G HIS/ARG,HIS/ARG 0,4406 0,0,2203 104 97 99 641,641 -6.5 0 1 dbSNP_134 99 2,8598 2.2+/-6.3 0,2,4298 yes missense,missense CR2 NM_001006658.2,NM_001877.4 29,29 0,2,6501 AA,AG,GG 0.0233,0.0,0.0154 possibly-damaging,possibly-damaging 214/1093,214/1034 207642151 2,13004 2203 4300 6503 SO:0001583 missense M26004 CCDS1478.1, CCDS31007.1 1q32 2014-09-17 ENSG00000117322 ENSG00000117322 1380 CD molecules, Complement system 2336 protein-coding gene gene with protein product 120650 NA Standard NM_001877 NM_001006658 NA Approved CD21 uc001hfv.3 P20023 OTTHUMG00000036307 ENST00000367057.3:c.641G>A chr1.hg19:g.207642151G>A ENSP00000356024:p.Arg214His NA C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48 hg19 CCDS31007.1 0.02 19.007543 CACxCTG COVERED 4 0.0018315018315018315 0 0.0 0 0.0 4 0.006993006993006993 0 0.0 G 8.220 0.802284 0.16397 0.0 2.33E-4 ENSG00000117322 ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541 T;T;T;T 0.24350 1.86;1.86;1.86;1.86 5.5 -6.49 0.01890 Complement control module (2);Sushi/SCR/CCP (1); . . . . T 0.14184 0.0343 L 0.39898 1.24 0.09310 N 1 B;D;D 0.58268 0.002;0.972;0.982 B;P;P 0.49561 0.002;0.476;0.615 T 0.09975 -1.0650 9 0.31617 T 0.26 . 4.5737 0.12223 0.4538:0.0:0.2238:0.3224 . 214;214;214 Q5SR47;P20023;P20023-3 .;CR2_HUMAN;. H 214 ENSP00000356025:R214H;ENSP00000356024:R214H;ENSP00000356026:R214H;ENSP00000404222:R214H ENSP00000356024:R214H R + 2 0 CR2 205708774 0.000000 0.05858 0.009000 0.14445 0.008000 0.06430 -0.723000 0.04952 -0.852000 0.04141 -1.311000 0.01308 CGC NOVEL CR2-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000088325.1 2 15.649124 KEEP 0 0 0 52 1806 GG 1 1 0 + 16 60 581 0 0 35.498729 450 60 15926 604 ENST00000367057.3 0.034335 1 CR1 1378 __UNKNOWN__ __UNKNOWN__ 1 207679229 207679229 __UNKNOWN__ Intron SNP T T G rs4844599 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:207679229T>G ENST00000367049.4 + 2 121 CR1_ENST00000400960.2_Intron|CR1_ENST00000367051.1_Intron|CR1_ENST00000367050.4_Intron|CR1_ENST00000367052.1_Intron|CR1_ENST00000367053.1_Intron NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) NA NA complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449) cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861) NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 CTTTGATGCTTCTATGGTCTT 0.448 NA G||| 1360 0.271565 0.1467 0.2709 5008 , , NA 21312 0.3036 NA 0.1839 False NA ,,, NA NA NA 2504 0.498 NA NA NA NA 0 G , 591,3143 46,499,1322 114 105 108 , -8.1 0 1 dbSNP_111 108 1535,6661 128,1279,2691 no intron,intron CR1 NM_000573.3,NM_000651.4 , 174,1778,4013 GG,GT,TT 18.7286,15.8275,17.8206 , , 207679229 2126,9804 1867 4098 5965 SO:0001627 intron_variant Y00816 CCDS44308.1, CCDS44309.1 1q32 2014-07-19 2006-01-12 ENSG00000203710 ENSG00000203710 1378 CD molecules, Blood group antigens, Complement system 2334 protein-coding gene gene with protein product 120620 complement component (3b/4b) receptor 1, including Knops blood group system NA 1708809 Standard NM_000573 XM_005273064 NA Approved CD35, KN uc001hfx.3 P17927 OTTHUMG00000036311 ENST00000367049.4:c.122-20T>G chr1.hg19:g.207679229T>G NA Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2 hg19 CCDS44308.1 0.02 17.000447 GCTxCTA COVERED NOVEL CR1-012 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000382527.1 9 13.841356 KEEP 0 0 0 46 1464 TT 1 1 0 + 26 60 977 0 0 68.668587 363 60 13004 528 ENST00000367049.4 0.066838 1 CR1 1378 __UNKNOWN__ __UNKNOWN__ 1 207753621 207753621 __UNKNOWN__ Missense_Mutation SNP A A G rs2274567 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:207753621A>G ENST00000367049.4 + 30 4973 c.4973A>G c.(4972-4974)cAt>cGt p.H1658R CR1_ENST00000400960.2_Missense_Mutation_p.H1208R|CR1_ENST00000367051.1_Missense_Mutation_p.H1208R|RP11-78B10.2_ENST00000596003.1_RNA|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367052.1_Missense_Mutation_p.H1208R|CR1_ENST00000367053.1_Missense_Mutation_p.H1208R NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 1208 Sushi 26. {ECO:0000255|PROSITE- ProRule:PRU00302}. NA complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449) cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861) NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 CATGGTGAGCATACCCCAAGC 0.522 NA A||| 1474 0.294329 0.2186 0.2709 5008 , , NA 18110 0.3274 NA 0.1819 False NA ,,, NA NA NA 2504 0.4949 NA NA NA NA 0 A ARG/HIS,ARG/HIS 875,3049 94,687,1181 126 127 126 3623,4973 0.2 0 1 dbSNP_100 126 1524,6788 129,1266,2761 no missense,missense CR1 NM_000573.3,NM_000651.4 29,29 223,1953,3942 GG,GA,AA 18.3349,22.2987,19.6061 probably-damaging,probably-damaging 1208/2040,1658/2490 207753621 2399,9837 1962 4156 6118 SO:0001583 missense Y00816 CCDS44308.1, CCDS44309.1 1q32 2014-07-19 2006-01-12 ENSG00000203710 ENSG00000203710 1378 CD molecules, Blood group antigens, Complement system 2334 protein-coding gene gene with protein product 120620 complement component (3b/4b) receptor 1, including Knops blood group system NA 1708809 Standard NM_000573 XM_005273064 NA Approved CD35, KN uc001hfx.3 P17927 OTTHUMG00000036311 ENST00000367049.4:c.4973A>G chr1.hg19:g.207753621A>G ENSP00000356016:p.His1658Arg NA Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2 hg19 CCDS44308.1 0.02 13.542162 AGCxTAC COVERED 487 0.222985347985348 114 0.23170731707317074 108 0.2983425414364641 134 0.23426573426573427 131 0.17282321899736147 A 0.454 -0.892160 0.02491 0.222987 0.183349 ENSG00000203710 ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000534202;ENST00000367049 T;T;T;T;T;T 0.63255 -0.03;-0.03;-0.03;-0.03;-0.03;-0.03 4.34 0.182 0.15077 Complement control module (2);Sushi/SCR/CCP (3); . . . . T 0.00012 0.0000 N 0.17674 0.51 0.80722 P 0.0 B;B;D 0.65815 0.147;0.08;0.995 B;B;D 0.74674 0.168;0.049;0.984 T 0.09907 -1.0653 8 0.25106 T 0.35 . 1.2006 0.01884 0.5248:0.1803:0.1191:0.1757 rs2274567;rs3860293;rs17047280;rs52826014;rs60859711;rs2274567 1208;1208;1658 Q5SR44;P17927;E9PDY4 .;CR1_HUMAN;. R 1208;1208;1208;1208;758;1658 ENSP00000356019:H1208R;ENSP00000356018:H1208R;ENSP00000356020:H1208R;ENSP00000383744:H1208R;ENSP00000436139:H758R;ENSP00000356016:H1658R ENSP00000356016:H1658R H + 2 0 CR1 205820244 0.000000 0.05858 0.001000 0.08648 0.091000 0.18340 0.814000 0.27239 0.164000 0.19529 0.529000 0.55759 CAT NOVEL CR1-012 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000382527.1 3 5.71499 KEEP 0 0 0 19 567 AA 0.99986 0.99986 0 + 22 60 809 0 0 57.050694 284 60 10298 345 ENST00000367049.4 0.071895 1 CR1 1378 __UNKNOWN__ __UNKNOWN__ 1 207758232 207758232 __UNKNOWN__ Intron SNP A A G rs1752688 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:207758232A>G ENST00000367049.4 + 33 5530 CR1_ENST00000400960.2_Intron|CR1_ENST00000367051.1_Intron|RP11-78B10.2_ENST00000596003.1_RNA|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367052.1_Intron|CR1_ENST00000367053.1_Intron NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) NA NA complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449) cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861) NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 GTCAGTATCCACTTCCACATA 0.473 NA G||| 2428 0.484824 0.8608 0.3573 5008 , , NA 19613 0.3294 NA 0.2247 False NA ,,, NA NA NA 2504 0.4949 NA NA NA NA 0 G , 2885,1013 1074,737,138 88 90 89 , -3.5 0 1 dbSNP_89 89 1772,6528 168,1436,2546 no intron,intron CR1 NM_000573.3,NM_000651.4 , 1242,2173,2684 GG,GA,AA 21.3494,25.9877,38.1784 , , 207758232 4657,7541 1949 4150 6099 SO:0001627 intron_variant Y00816 CCDS44308.1, CCDS44309.1 1q32 2014-07-19 2006-01-12 ENSG00000203710 ENSG00000203710 1378 CD molecules, Blood group antigens, Complement system 2334 protein-coding gene gene with protein product 120620 complement component (3b/4b) receptor 1, including Knops blood group system NA 1708809 Standard NM_000573 XM_005273064 NA Approved CD35, KN uc001hfx.3 P17927 OTTHUMG00000036311 ENST00000367049.4:c.5530+11A>G chr1.hg19:g.207758232A>G NA Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2 hg19 CCDS44308.1 0.02 10.815815 TCCxCTT COVERED NOVEL CR1-012 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000382527.1 0 5.449659 KEEP 0 1 34 30 905 AA 0.999997 0.999997 0 + 21 60 658 0 0 43.912543 267 60 9431 381 ENST00000367049.4 0.072917 1 CR1 1378 __UNKNOWN__ __UNKNOWN__ 1 207782931 207782931 __UNKNOWN__ Missense_Mutation SNP A A G rs6691117 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:207782931A>G ENST00000367049.4 + 37 6193 c.6193A>G c.(6193-6195)Atc>Gtc p.I2065V CR1_ENST00000400960.2_Missense_Mutation_p.I1615V|CR1_ENST00000367051.1_Missense_Mutation_p.I1615V|CR1_ENST00000367052.1_Missense_Mutation_p.I1615V|CR1_ENST00000367053.1_Missense_Mutation_p.I1615V NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 1615 NA complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449) cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861) NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 CACTGAGATCATCAGATTTAG 0.498 NA G||| 2471 0.493411 0.8722 0.3761 5008 , , NA 19776 0.3433 NA 0.2256 False NA ,,, NA NA NA 2504 0.4949 NA NA NA NA 0 G VAL/ILE,VAL/ILE 2892,958 1089,714,122 36 37 37 4843,6193 2.5 0 1 dbSNP_116 37 1761,6497 162,1437,2530 yes missense,missense CR1 NM_000573.3,NM_000651.4 29,29 1251,2151,2652 GG,GA,AA 21.3248,24.8831,38.4291 benign,benign 1615/2040,2065/2490 207782931 4653,7455 1925 4129 6054 SO:0001583 missense Y00816 CCDS44308.1, CCDS44309.1 1q32 2014-07-19 2006-01-12 ENSG00000203710 ENSG00000203710 1378 CD molecules, Blood group antigens, Complement system 2334 protein-coding gene gene with protein product 120620 complement component (3b/4b) receptor 1, including Knops blood group system NA 1708809 Standard NM_000573 XM_005273064 NA Approved CD35, KN uc001hfx.3 P17927 OTTHUMG00000036311 ENST00000367049.4:c.6193A>G chr1.hg19:g.207782931A>G ENSP00000356016:p.Ile2065Val NA Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2 hg19 CCDS44308.1 0.02 13.88906 ATCxTCA COVERED 850 0.3891941391941392 408 0.8292682926829268 135 0.3729281767955801 143 0.25 164 0.21635883905013192 G 0.017 -1.509804 0.00984 0.751169 0.213248 ENSG00000203710 ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000367049 T;T;T;T;T 0.60672 0.17;0.17;0.17;0.17;0.17 2.54 2.54 0.30619 Complement control module (2);Sushi/SCR/CCP (3); . . . . T 0.00012 0.0000 N 0.00246 -1.78 0.80722 P 0.0 B;B;B 0.06786 0.0;0.0;0.001 B;B;B 0.10450 0.0;0.0;0.005 T 0.38866 -0.9641 8 0.02654 T 1 . 5.5311 0.16985 0.1589:0.0:0.8411:0.0 rs6691117;rs59510794;rs6691117 1615;1615;2065 Q5SR44;P17927;E9PDY4 .;CR1_HUMAN;. V 1615;1615;1615;1615;2065 ENSP00000356019:I1615V;ENSP00000356018:I1615V;ENSP00000356020:I1615V;ENSP00000383744:I1615V;ENSP00000356016:I2065V ENSP00000356016:I2065V I + 1 0 CR1 205849554 0.801000 0.28930 0.004000 0.12327 0.078000 0.17371 2.671000 0.46842 0.637000 0.30526 -0.355000 0.07637 ATC NOVEL CR1-012 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000382527.1 2 6.353461 KEEP 0 1 34 33 1030 AA 0.999998 0.999998 0 + 22 60 785 0 0 54.464008 290 60 10738 425 ENST00000367049.4 0.070513 1 CR1 1378 __UNKNOWN__ __UNKNOWN__ 1 207790088 207790088 __UNKNOWN__ Missense_Mutation SNP C C G rs3811381 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:207790088C>G ENST00000367049.4 + 41 6830 c.6830C>G c.(6829-6831)cCt>cGt p.P2277R CR1_ENST00000400960.2_Missense_Mutation_p.P1827R|CR1_ENST00000367051.1_Missense_Mutation_p.P1827R|CR1_ENST00000367052.1_Missense_Mutation_p.P1827R|CR1_ENST00000367053.1_Missense_Mutation_p.P1827R NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 1827 NA complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449) cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861) NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 ACAAGTGACCCTCAAGGGAAT 0.517 NA C||| 1316 0.26278 0.1172 0.2608 5008 , , NA 19452 0.3224 NA 0.1809 False NA ,,, NA NA NA 2504 0.4836 NA NA NA NA 0 GRCh37 CM025385 CR1 M rs3811381 C ARG/PRO,ARG/PRO 498,3414 34,430,1492 146 147 147 5480,6830 -5.6 0 1 dbSNP_107 147 1508,6762 125,1258,2752 no missense,missense CR1 NM_000573.3,NM_000651.4 103,103 159,1688,4244 GG,GC,CC 18.2346,12.7301,16.4669 benign,benign 1827/2040,2277/2490 207790088 2006,10176 1956 4135 6091 SO:0001583 missense Y00816 CCDS44308.1, CCDS44309.1 1q32 2014-07-19 2006-01-12 ENSG00000203710 ENSG00000203710 1378 CD molecules, Blood group antigens, Complement system 2334 protein-coding gene gene with protein product 120620 complement component (3b/4b) receptor 1, including Knops blood group system NA 1708809 Standard NM_000573 XM_005273064 NA Approved CD35, KN uc001hfx.3 P17927 OTTHUMG00000036311 ENST00000367049.4:c.6830C>G chr1.hg19:g.207790088C>G ENSP00000356016:p.Pro2277Arg NA Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2 hg19 CCDS44308.1 0.02 14.532864 ACCxTCA COVERED 429|429 0.19642857142857142|0.19642857142857142 64|64 0.13008130081300814|0.13008130081300814 102|102 0.281767955801105|0.281767955801105 131|131 0.229020979020979|0.229020979020979 132|132 0.1741424802110818|0.1741424802110818 C|C 0.010|0.010 -1.745772|-1.745772 0.00669|0.00669 0.127301|0.127301 0.182346|0.182346 ENSG00000203710|ENSG00000203710 ENST00000529814|ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000367049 .|T;T;T;T;T .|0.21543 .|2.0;2.0;2.0;2.0;2.0 4.15|4.15 -5.58|-5.58 0.02512|0.02512 .|Complement control module (2);Sushi/SCR/CCP (3); .|. .|. .|. .|. T|T 0.00012|0.00012 0.0000|0.0000 N|N 0.05078|0.05078 -0.115|-0.115 0.80722|0.80722 P|P 0.0|0.0 .|B;P .|0.38711 .|0.005;0.643 .|B;B .|0.32211 .|0.032;0.142 T|T 0.39643|0.39643 -0.9604|-0.9604 4|8 .|0.11794 .|T .|0.64 .|. 3.1972|3.1972 0.06637|0.06637 0.5482:0.1261:0.1987:0.127|0.5482:0.1261:0.1987:0.127 rs3811381;rs56791502|rs3811381;rs56791502 .|1827;2277 .|P17927;E9PDY4 .|CR1_HUMAN;. V|R 450|1827;1827;1827;1827;2277 .|ENSP00000356019:P1827R;ENSP00000356018:P1827R;ENSP00000356020:P1827R;ENSP00000383744:P1827R;ENSP00000356016:P2277R .|ENSP00000356016:P2277R L|P +|+ 1|2 0|0 CR1|CR1 205856711|205856711 0.000000|0.000000 0.05858|0.05858 0.000000|0.000000 0.03702|0.03702 0.021000|0.021000 0.10359|0.10359 -0.775000|-0.775000 0.04679|0.04679 -1.266000|-1.266000 0.02446|0.02446 -2.118000|-2.118000 0.00350|0.00350 CTC|CCT NOVEL CR1-012 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000382527.1 2 13.544145 KEEP 0 0 0 45 1608 CC 1 1 0 + 20 60 748 0 0 51.293229 321 60 12239 486 ENST00000367049.4 0.058651 1 CD34 947 __UNKNOWN__ __UNKNOWN__ 1 208060009 208060009 __UNKNOWN__ 3'UTR SNP C C T rs7572 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:208060009C>T ENST00000310833.7 - 0 2553 CD34_ENST00000356522.4_3'UTR|CD34_ENST00000367036.3_3'UTR|CD34_ENST00000485761.1_Intron NM_001025109.1 NP_001020280.1 P28906 CD34_HUMAN CD34 molecule NA NA cell motility (GO:0048870)|cell proliferation (GO:0008283)|endothelial cell proliferation (GO:0001935)|endothelium development (GO:0003158)|extracellular vesicular exosome assembly (GO:0071971)|glomerular endothelium development (GO:0072011)|glomerular filtration (GO:0003094)|glutamate metabolic process (GO:0006536)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|leukocyte migration (GO:0050900)|mesangial cell-matrix adhesion (GO:0035759)|metanephric glomerular mesangial cell differentiation (GO:0072254)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cellular response to heat (GO:1900035)|negative regulation of cellular response to hypoxia (GO:1900038)|negative regulation of gene expression (GO:0010629)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of neuron death (GO:1901215)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of tumor necrosis factor production (GO:0032720)|paracrine signaling (GO:0038001)|positive regulation of angiogenesis (GO:0045766)|positive regulation of gene expression (GO:0010628)|positive regulation of glial cell line-derived neurotrophic factor secretion (GO:1900168)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of odontogenesis (GO:0042482)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasculogenesis (GO:2001214)|regulation of blood pressure (GO:0008217)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|stem cell proliferation (GO:0072089)|tissue homeostasis (GO:0001894)|transdifferentiation (GO:0060290)|vascular wound healing (GO:0061042) apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|glomerular endothelium fenestra (GO:0036053)|integral component of plasma membrane (GO:0005887)|intercellular bridge (GO:0045171)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886) carbohydrate binding (GO:0030246)|sulfate binding (GO:0043199)|transcription factor binding (GO:0008134) kidney(2)|large_intestine(2)|lung(8)|ovary(1) 13 AGGATCCCTGCTCAACCCCTC 0.438 NA C||| 1489 0.297324 0.2284 0.2867 5008 , , NA 20025 0.5089 NA 0.2018 False NA ,,, NA NA NA 2504 0.2781 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M81104 CCDS31011.1, CCDS31012.1 1q32 2008-02-05 2006-03-28 ENSG00000174059 ENSG00000174059 947 CD molecules 1662 protein-coding gene gene with protein product 142230 CD34 antigen NA 1370171, 1374051 Standard NM_001773 NM_001025109 NA Approved uc001hgw.1 P28906 OTTHUMG00000036565 ENST00000310833.7:c.*1074G>A chr1.hg19:g.208060009C>T NA A8K664|Q15970|Q15971|Q5JTA3|Q5JTA4|Q9UJB1 hg19 CCDS31011.1 0.02 4.261317 CTGxTCA COVERED NOVEL CD34-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000088933.1 0 18.96179 KEEP 0 0 0 63 2277 CC 1 1 0 - 8 60 279 0 0 18.762375 119 60 4578 243 ENST00000310833.7 0.062992 1 CD34 947 __UNKNOWN__ __UNKNOWN__ 1 208060359 208060359 __UNKNOWN__ 3'UTR SNP G G A rs2556 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:208060359G>A ENST00000310833.7 - 0 2203 CD34_ENST00000356522.4_3'UTR|CD34_ENST00000367036.3_3'UTR|CD34_ENST00000485761.1_Intron NM_001025109.1 NP_001020280.1 P28906 CD34_HUMAN CD34 molecule NA NA cell motility (GO:0048870)|cell proliferation (GO:0008283)|endothelial cell proliferation (GO:0001935)|endothelium development (GO:0003158)|extracellular vesicular exosome assembly (GO:0071971)|glomerular endothelium development (GO:0072011)|glomerular filtration (GO:0003094)|glutamate metabolic process (GO:0006536)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|leukocyte migration (GO:0050900)|mesangial cell-matrix adhesion (GO:0035759)|metanephric glomerular mesangial cell differentiation (GO:0072254)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cellular response to heat (GO:1900035)|negative regulation of cellular response to hypoxia (GO:1900038)|negative regulation of gene expression (GO:0010629)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of neuron death (GO:1901215)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of tumor necrosis factor production (GO:0032720)|paracrine signaling (GO:0038001)|positive regulation of angiogenesis (GO:0045766)|positive regulation of gene expression (GO:0010628)|positive regulation of glial cell line-derived neurotrophic factor secretion (GO:1900168)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of odontogenesis (GO:0042482)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasculogenesis (GO:2001214)|regulation of blood pressure (GO:0008217)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|stem cell proliferation (GO:0072089)|tissue homeostasis (GO:0001894)|transdifferentiation (GO:0060290)|vascular wound healing (GO:0061042) apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|glomerular endothelium fenestra (GO:0036053)|integral component of plasma membrane (GO:0005887)|intercellular bridge (GO:0045171)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886) carbohydrate binding (GO:0030246)|sulfate binding (GO:0043199)|transcription factor binding (GO:0008134) kidney(2)|large_intestine(2)|lung(8)|ovary(1) 13 GGGAGAAAAAGGAGCCCAAAA 0.512 NA G||| 660 0.131789 0.0461 0.0504 5008 , , NA 19009 0.3681 NA 0.0716 False NA ,,, NA NA NA 2504 0.1237 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M81104 CCDS31011.1, CCDS31012.1 1q32 2008-02-05 2006-03-28 ENSG00000174059 ENSG00000174059 947 CD molecules 1662 protein-coding gene gene with protein product 142230 CD34 antigen NA 1370171, 1374051 Standard NM_001773 NM_001025109 NA Approved uc001hgw.1 P28906 OTTHUMG00000036565 ENST00000310833.7:c.*724C>T chr1.hg19:g.208060359G>A NA A8K664|Q15970|Q15971|Q5JTA3|Q5JTA4|Q9UJB1 hg19 CCDS31011.1 0.02 9.405913 AAAxGAG COVERED NOVEL CD34-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000088933.1 3 35.513554 KEEP 0 0 0 118 4160 GG 1 1 0 - 20 60 758 0 0 55.719337 213 60 7963 451 ENST00000310833.7 0.085837 1 CD34 947 __UNKNOWN__ __UNKNOWN__ 1 208061530 208061530 __UNKNOWN__ Intron SNP A A G rs2235766 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:208061530A>G ENST00000310833.7 - 8 1294 CD34_ENST00000537704.1_Intron|CD34_ENST00000356522.4_Intron|CD34_ENST00000367036.3_Intron|CD34_ENST00000485761.1_Intron NM_001025109.1 NP_001020280.1 P28906 CD34_HUMAN CD34 molecule NA NA cell motility (GO:0048870)|cell proliferation (GO:0008283)|endothelial cell proliferation (GO:0001935)|endothelium development (GO:0003158)|extracellular vesicular exosome assembly (GO:0071971)|glomerular endothelium development (GO:0072011)|glomerular filtration (GO:0003094)|glutamate metabolic process (GO:0006536)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|leukocyte migration (GO:0050900)|mesangial cell-matrix adhesion (GO:0035759)|metanephric glomerular mesangial cell differentiation (GO:0072254)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cellular response to heat (GO:1900035)|negative regulation of cellular response to hypoxia (GO:1900038)|negative regulation of gene expression (GO:0010629)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of neuron death (GO:1901215)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of tumor necrosis factor production (GO:0032720)|paracrine signaling (GO:0038001)|positive regulation of angiogenesis (GO:0045766)|positive regulation of gene expression (GO:0010628)|positive regulation of glial cell line-derived neurotrophic factor secretion (GO:1900168)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of odontogenesis (GO:0042482)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasculogenesis (GO:2001214)|regulation of blood pressure (GO:0008217)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|stem cell proliferation (GO:0072089)|tissue homeostasis (GO:0001894)|transdifferentiation (GO:0060290)|vascular wound healing (GO:0061042) apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|glomerular endothelium fenestra (GO:0036053)|integral component of plasma membrane (GO:0005887)|intercellular bridge (GO:0045171)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886) carbohydrate binding (GO:0030246)|sulfate binding (GO:0043199)|transcription factor binding (GO:0008134) kidney(2)|large_intestine(2)|lung(8)|ovary(1) 13 CAGCTCCCGCAGGAAAACGGG 0.597 NA A||| 892 0.178115 0.1793 0.0778 5008 , , NA 14166 0.373 NA 0.0954 False NA ,,, NA NA NA 2504 0.1319 NA NA NA NA 0 A , 200,1184 17,166,509 36 38 37 , -3.1 0 1 dbSNP_98 37 320,2862 20,280,1291 no intron,intron CD34 NM_001025109.1,NM_001773.2 , 37,446,1800 GG,GA,AA 10.0566,14.4509,11.3885 , , 208061530 520,4046 692 1591 2283 SO:0001627 intron_variant M81104 CCDS31011.1, CCDS31012.1 1q32 2008-02-05 2006-03-28 ENSG00000174059 ENSG00000174059 947 CD molecules 1662 protein-coding gene gene with protein product 142230 CD34 antigen NA 1370171, 1374051 Standard NM_001773 NM_001025109 NA Approved uc001hgw.1 P28906 OTTHUMG00000036565 ENST00000310833.7:c.973-262T>C chr1.hg19:g.208061530A>G NA A8K664|Q15970|Q15971|Q5JTA3|Q5JTA4|Q9UJB1 hg19 CCDS31011.1 0.02 6.721164 CGCxGGA COVERED NOVEL CD34-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000088933.1 1 26.77737 KEEP 0 0 0 89 2722 AA 1 1 0 - 8 60 275 0 0 17.70423 145 60 5439 314 ENST00000310833.7 0.052288 1 CD34 947 __UNKNOWN__ __UNKNOWN__ 1 208063505 208063505 __UNKNOWN__ Intron SNP G G A rs1009897 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:208063505G>A ENST00000310833.7 - 5 919 CD34_ENST00000537704.1_Intron|CD34_ENST00000356522.4_Intron|CD34_ENST00000367036.3_De_novo_Start_InFrame|CD34_ENST00000485761.1_Intron NM_001025109.1 NP_001020280.1 P28906 CD34_HUMAN CD34 molecule NA NA cell motility (GO:0048870)|cell proliferation (GO:0008283)|endothelial cell proliferation (GO:0001935)|endothelium development (GO:0003158)|extracellular vesicular exosome assembly (GO:0071971)|glomerular endothelium development (GO:0072011)|glomerular filtration (GO:0003094)|glutamate metabolic process (GO:0006536)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|leukocyte migration (GO:0050900)|mesangial cell-matrix adhesion (GO:0035759)|metanephric glomerular mesangial cell differentiation (GO:0072254)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cellular response to heat (GO:1900035)|negative regulation of cellular response to hypoxia (GO:1900038)|negative regulation of gene expression (GO:0010629)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of neuron death (GO:1901215)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of tumor necrosis factor production (GO:0032720)|paracrine signaling (GO:0038001)|positive regulation of angiogenesis (GO:0045766)|positive regulation of gene expression (GO:0010628)|positive regulation of glial cell line-derived neurotrophic factor secretion (GO:1900168)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of odontogenesis (GO:0042482)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasculogenesis (GO:2001214)|regulation of blood pressure (GO:0008217)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|stem cell proliferation (GO:0072089)|tissue homeostasis (GO:0001894)|transdifferentiation (GO:0060290)|vascular wound healing (GO:0061042) apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|glomerular endothelium fenestra (GO:0036053)|integral component of plasma membrane (GO:0005887)|intercellular bridge (GO:0045171)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886) carbohydrate binding (GO:0030246)|sulfate binding (GO:0043199)|transcription factor binding (GO:0008134) kidney(2)|large_intestine(2)|lung(8)|ovary(1) 13 TTTTTGTCTCGTCTTCCATCT 0.418 NA G||| 1077 0.215056 0.0113 0.3458 5008 , , NA 18668 0.2867 NA 0.2763 False NA ,,, NA NA NA 2504 0.2607 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M81104 CCDS31011.1, CCDS31012.1 1q32 2008-02-05 2006-03-28 ENSG00000174059 ENSG00000174059 947 CD molecules 1662 protein-coding gene gene with protein product 142230 CD34 antigen NA 1370171, 1374051 Standard NM_001773 NM_001025109 NA Approved uc001hgw.1 P28906 OTTHUMG00000036565 ENST00000310833.7:c.598-539C>T chr1.hg19:g.208063505G>A NA A8K664|Q15970|Q15971|Q5JTA3|Q5JTA4|Q9UJB1 hg19 CCDS31011.1 0.02 4.519943 CTCxTCT COVERED NOVEL CD34-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000088933.1 1 13.841861 KEEP 0 0 0 46 1582 GG 1 0.999992 0 - 8 60 302 0 0 21.603965 101 60 3559 182 ENST00000310833.7 0.073394 0.999992 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 208480641 208480641 __UNKNOWN__ IGR SNP C C T rs5023225 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:208480641C>T NA NA PLXNA2 (62976 upstream) : RP11-565N2.1 (299803 downstream) NA NA NA cctcccaaagcgctgggatta 0.498 NA -||| 2001 0.399561 0.7844 0.2738 5008 , , NA 23510 0.3938 NA 0.1809 False NA ,,, NA NA NA 2504 0.1994 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.208480641C>T NA hg19 0.02 -0.166133 AAGxGCT COVERED NOVEL 0 24 4.729502 KEEP 25 1 32 27 925 CC 0.999859 0.353897 0 5 60 183 0 0 16.077328 13 26 463 83 0.277778 0.353947 LAMB3 3914 __UNKNOWN__ __UNKNOWN__ 1 209791929 209791929 __UNKNOWN__ Missense_Mutation SNP G G T rs2076222 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:209791929G>T ENST00000356082.4 - 19 2911 c.2777C>A c.(2776-2778)gCt>gAt p.A926D LAMB3_ENST00000391911.1_Missense_Mutation_p.A926D|LAMB3_ENST00000367030.3_Missense_Mutation_p.A926D NM_000228.2 NP_000219.2 Q13751 LAMB3_HUMAN laminin, beta 3 926 Domain I. NA A -> D (in dbSNP:rs2076222). brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581) extracellular region (GO:0005576)|laminin-5 complex (GO:0005610) structural molecule activity (GO:0005198) NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 OV - Ovarian serous cystadenocarcinoma(81;0.0519) CAGAACAGTAGCTGAGTCTGT 0.592 NA G||| 446 0.0890575 0.0023 0.0764 5008 , , NA 20091 0.2669 NA 0.0209 False NA ,,, NA NA NA 2504 0.1022 NA NA NA NA 0 G ASP/ALA,ASP/ALA,ASP/ALA 37,4369 40.8+/-73.8 1,35,2167 91 85 87 2777,2777,2777 4.1 0 1 dbSNP_96 87 193,8407 85.3+/-147.7 1,191,4108 yes missense,missense,missense LAMB3 NM_000228.2,NM_001017402.1,NM_001127641.1 126,126,126 2,226,6275 TT,TG,GG 2.2442,0.8398,1.7684 probably-damaging,probably-damaging,probably-damaging 926/1173,926/1173,926/1173 209791929 230,12776 2203 4300 6503 SO:0001583 missense D37766 CCDS1487.1 1q32 2013-03-01 2002-08-29 ENSG00000196878 ENSG00000196878 3914 Laminins 6490 protein-coding gene gene with protein product 150310 laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD)) LAMNB1 NA 8088808, 7774918 Standard NM_000228 NM_001127641 NA Approved nicein-125kDa, kalinin-140kDa, BM600-125kDa uc001hhh.3 Q13751 OTTHUMG00000036360 ENST00000356082.4:c.2777C>A chr1.hg19:g.209791929G>T ENSP00000348384:p.Ala926Asp NA D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1 hg19 CCDS1487.1 0.02 16.309675 GTAxCTG COVERED 174 0.07967032967032966 0 0.0 23 0.06353591160220995 137 0.2395104895104895 14 0.018469656992084433 G 15.43 2.831669 0.50845 0.008398 0.022442 ENSG00000196878 ENST00000391911;ENST00000356082;ENST00000367030 T;T;T 0.36699 1.24;1.24;1.24 5.01 4.1 0.47936 . 0.186662 0.46442 D 0.000297 T 0.00039 0.0001 M 0.76574 2.34 0.27860 P 0.9404305 D 0.76494 0.999 D 0.66716 0.946 T 0.04029 -1.0983 9 0.28530 T 0.3 . 13.1103 0.59268 0.0788:0.0:0.9212:0.0 rs2076222;rs58828090;rs2076222 926 Q13751 LAMB3_HUMAN D 926 ENSP00000375778:A926D;ENSP00000348384:A926D;ENSP00000355997:A926D ENSP00000348384:A926D A - 2 0 LAMB3 207858552 0.982000 0.34865 0.012000 0.15200 0.197000 0.23852 3.240000 0.51368 1.132000 0.42129 0.555000 0.69702 GCT NOVEL LAMB3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000088525.2 3 32.807537 KEEP 0 0 0 109 3953 GG 1 1 0 - 28 60 1019 0 0 71.665055 358 70 13622 643 ENST00000356082.4 0.072539 1 LAMB3 3914 __UNKNOWN__ __UNKNOWN__ 1 209796662 209796662 __UNKNOWN__ Intron SNP T T C rs60927005 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:209796662T>C ENST00000356082.4 - 17 2493 LAMB3_ENST00000391911.1_Intron|LAMB3_ENST00000367030.3_Intron NM_000228.2 NP_000219.2 Q13751 LAMB3_HUMAN laminin, beta 3 NA NA brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581) extracellular region (GO:0005576)|laminin-5 complex (GO:0005610) structural molecule activity (GO:0005198) NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 OV - Ovarian serous cystadenocarcinoma(81;0.0519) CCATGAGAGCTAAGGACCAGA 0.552 NA C||| 445 0.0888578 0.0023 0.0764 5008 , , NA 20386 0.2649 NA 0.0209 False NA ,,, NA NA NA 2504 0.1033 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D37766 CCDS1487.1 1q32 2013-03-01 2002-08-29 ENSG00000196878 ENSG00000196878 3914 Laminins 6490 protein-coding gene gene with protein product 150310 laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD)) LAMNB1 NA 8088808, 7774918 Standard NM_000228 NM_001127641 NA Approved nicein-125kDa, kalinin-140kDa, BM600-125kDa uc001hhh.3 Q13751 OTTHUMG00000036360 ENST00000356082.4:c.2359-138A>G chr1.hg19:g.209796662T>C NA D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1 hg19 CCDS1487.1 0.02 2.038771 AGCxAAG COVERED NOVEL LAMB3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000088525.2 2 3.309973 KEEP 0 0 0 11 343 TT 0.993072 0.991285 0 - 6 60 193 0 0 13.191331 68 60 2420 87 ENST00000356082.4 0.081081 0.9982 LAMB3 3914 __UNKNOWN__ __UNKNOWN__ 1 209797198 209797198 __UNKNOWN__ Silent SNP A A G rs2072937 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:209797198A>G ENST00000356082.4 - 15 2258 c.2124T>C c.(2122-2124)agT>agC p.S708S LAMB3_ENST00000391911.1_Silent_p.S708S|LAMB3_ENST00000367030.3_Silent_p.S708S NM_000228.2 NP_000219.2 Q13751 LAMB3_HUMAN laminin, beta 3 708 Domain II. NA brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581) extracellular region (GO:0005576)|laminin-5 complex (GO:0005610) structural molecule activity (GO:0005198) NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 OV - Ovarian serous cystadenocarcinoma(81;0.0519) AAGGATCAGCACTGCTTATTT 0.562 NA A||| 444 0.0886581 0.0023 0.0764 5008 , , NA 16361 0.2649 NA 0.0209 False NA ,,, NA NA NA 2504 0.1022 NA NA NA NA 0 A ,, 37,4369 40.8+/-73.8 1,35,2167 96 94 95 2124,2124,2124 0.9 0 1 dbSNP_96 95 193,8407 85.3+/-147.7 1,191,4108 no coding-synonymous,coding-synonymous,coding-synonymous LAMB3 NM_000228.2,NM_001017402.1,NM_001127641.1 ,, 2,226,6275 GG,GA,AA 2.2442,0.8398,1.7684 ,, 708/1173,708/1173,708/1173 209797198 230,12776 2203 4300 6503 SO:0001819 synonymous_variant D37766 CCDS1487.1 1q32 2013-03-01 2002-08-29 ENSG00000196878 ENSG00000196878 3914 Laminins 6490 protein-coding gene gene with protein product 150310 laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD)) LAMNB1 NA 8088808, 7774918 Standard NM_000228 NM_001127641 NA Approved nicein-125kDa, kalinin-140kDa, BM600-125kDa uc001hhh.3 Q13751 OTTHUMG00000036360 ENST00000356082.4:c.2124T>C chr1.hg19:g.209797198A>G NA D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1 hg19 CCDS1487.1 0.02 8.377023 AGCxCTG COVERED NOVEL LAMB3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000088525.2 0 20.155645 KEEP 0 0 0 67 2032 AA 1 1 0 - 13 60 458 0 0 29.877931 235 60 8360 388 ENST00000356082.4 0.052419 1 LAMB3 3914 __UNKNOWN__ __UNKNOWN__ 1 209797253 209797253 __UNKNOWN__ Missense_Mutation SNP T T C rs2229466 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:209797253T>C ENST00000356082.4 - 15 2203 c.2069A>G c.(2068-2070)aAt>aGt p.N690S LAMB3_ENST00000391911.1_Missense_Mutation_p.N690S|LAMB3_ENST00000367030.3_Missense_Mutation_p.N690S NM_000228.2 NP_000219.2 Q13751 LAMB3_HUMAN laminin, beta 3 690 Domain II. NA N -> S (in dbSNP:rs2229466). brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581) extracellular region (GO:0005576)|laminin-5 complex (GO:0005610) structural molecule activity (GO:0005198) NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 OV - Ovarian serous cystadenocarcinoma(81;0.0519) AAGGAGACCATTGAAGCTTCT 0.552 NA T||| 448 0.0894569 0.0045 0.0778 5008 , , NA 20458 0.2649 NA 0.0209 False NA ,,, NA NA NA 2504 0.1022 NA NA NA NA 0 T SER/ASN,SER/ASN,SER/ASN 28,4378 33.5+/-64.1 1,26,2176 101 98 99 2069,2069,2069 2 0.1 1 dbSNP_98 99 193,8407 85.0+/-147.5 1,191,4108 yes missense,missense,missense LAMB3 NM_000228.2,NM_001017402.1,NM_001127641.1 46,46,46 2,217,6284 CC,CT,TT 2.2442,0.6355,1.6992 benign,benign,benign 690/1173,690/1173,690/1173 209797253 221,12785 2203 4300 6503 SO:0001583 missense D37766 CCDS1487.1 1q32 2013-03-01 2002-08-29 ENSG00000196878 ENSG00000196878 3914 Laminins 6490 protein-coding gene gene with protein product 150310 laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD)) LAMNB1 NA 8088808, 7774918 Standard NM_000228 NM_001127641 NA Approved nicein-125kDa, kalinin-140kDa, BM600-125kDa uc001hhh.3 Q13751 OTTHUMG00000036360 ENST00000356082.4:c.2069A>G chr1.hg19:g.209797253T>C ENSP00000348384:p.Asn690Ser NA D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1 hg19 CCDS1487.1 0.02 9.23018 CCAxTGA COVERED 174 0.07967032967032966 0 0.0 23 0.06353591160220995 137 0.2395104895104895 14 0.018469656992084433 T 0.417 -0.910318 0.02434 0.006355 0.022442 ENSG00000196878 ENST00000391911;ENST00000356082;ENST00000367030 T;T;T 0.36520 1.25;1.25;1.25 4.47 2.02 0.26589 . 1.240260 0.05264 N 0.516312 T 0.00012 0.0000 L 0.54323 1.7 0.80722 P 0.0 B 0.10296 0.003 B 0.06405 0.002 T 0.23833 -1.0177 9 0.10902 T 0.67 . 3.57 0.07913 0.2022:0.1863:0.0:0.6115 rs2229466;rs12075844;rs52832710;rs56826065;rs2229466 690 Q13751 LAMB3_HUMAN S 690 ENSP00000375778:N690S;ENSP00000348384:N690S;ENSP00000355997:N690S ENSP00000348384:N690S N - 2 0 LAMB3 207863876 0.164000 0.22935 0.083000 0.20561 0.275000 0.26752 0.246000 0.18160 0.186000 0.20125 -0.486000 0.04755 AAT NOVEL LAMB3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000088525.2 0 12.935781 KEEP 0 0 0 43 1377 TT 1 1 0 - 7 60 273 0 0 17.201018 211 60 7585 322 ENST00000356082.4 0.03211 1 LAMB3 3914 __UNKNOWN__ __UNKNOWN__ 1 209799205 209799205 __UNKNOWN__ Silent SNP A A G rs2229465 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:209799205A>G ENST00000356082.4 - 14 1898 c.1764T>C c.(1762-1764)taT>taC p.Y588Y LAMB3_ENST00000391911.1_Silent_p.Y588Y|LAMB3_ENST00000367030.3_Silent_p.Y588Y NM_000228.2 NP_000219.2 Q13751 LAMB3_HUMAN laminin, beta 3 588 Domain II. NA brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581) extracellular region (GO:0005576)|laminin-5 complex (GO:0005610) structural molecule activity (GO:0005198) NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 OV - Ovarian serous cystadenocarcinoma(81;0.0519) GGTCCGCATCATAGGTCTGGA 0.682 NA A||| 471 0.0940495 0.0015 0.0793 5008 , , NA 17350 0.2966 NA 0.0219 False NA ,,, NA NA NA 2504 0.0951 NA NA NA NA 0 A ,, 25,4381 29.9+/-59.1 1,23,2179 35 36 35 1764,1764,1764 -4.5 0.2 1 dbSNP_98 35 196,8402 85.3+/-147.7 1,194,4104 no coding-synonymous,coding-synonymous,coding-synonymous LAMB3 NM_000228.2,NM_001017402.1,NM_001127641.1 ,, 2,217,6283 GG,GA,AA 2.2796,0.5674,1.6995 ,, 588/1173,588/1173,588/1173 209799205 221,12783 2203 4299 6502 SO:0001819 synonymous_variant D37766 CCDS1487.1 1q32 2013-03-01 2002-08-29 ENSG00000196878 ENSG00000196878 3914 Laminins 6490 protein-coding gene gene with protein product 150310 laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD)) LAMNB1 NA 8088808, 7774918 Standard NM_000228 NM_001127641 NA Approved nicein-125kDa, kalinin-140kDa, BM600-125kDa uc001hhh.3 Q13751 OTTHUMG00000036360 ENST00000356082.4:c.1764T>C chr1.hg19:g.209799205A>G NA D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1 hg19 CCDS1487.1 0.02 11.193332 ATCxTAG COVERED NOVEL LAMB3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000088525.2 2 31.589096 KEEP 0 0 0 105 3188 AA 1 1 0 - 16 60 553 0 0 37.012148 239 60 8726 432 ENST00000356082.4 0.062745 1 LAMB3 3914 __UNKNOWN__ __UNKNOWN__ 1 209800230 209800230 __UNKNOWN__ Missense_Mutation SNP C C T rs2076349 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:209800230C>T ENST00000356082.4 - 13 1713 c.1579G>A c.(1579-1581)Gtg>Atg p.V527M LAMB3_ENST00000391911.1_Missense_Mutation_p.V527M|LAMB3_ENST00000367030.3_Missense_Mutation_p.V527M NM_000228.2 NP_000219.2 Q13751 LAMB3_HUMAN laminin, beta 3 527 Laminin EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00460}. NA V -> M (in dbSNP:rs2076349). brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581) extracellular region (GO:0005576)|laminin-5 complex (GO:0005610) structural molecule activity (GO:0005198) NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 OV - Ovarian serous cystadenocarcinoma(81;0.0519) CCTGTGGCCACGTCTCCATAG 0.667 NA C||| 1278 0.255192 0.3169 0.2061 5008 , , NA 20189 0.5794 NA 0.0278 False NA ,,, NA NA NA 2504 0.1063 NA NA NA NA 0 C MET/VAL,MET/VAL,MET/VAL 1119,3287 391.2+/-328.0 145,829,1229 51 43 46 1579,1579,1579 -2.5 0 1 dbSNP_96 46 233,8367 93.3+/-155.3 2,229,4069 yes missense,missense,missense LAMB3 NM_000228.2,NM_001017402.1,NM_001127641.1 21,21,21 147,1058,5298 TT,TC,CC 2.7093,25.3972,10.3952 benign,benign,benign 527/1173,527/1173,527/1173 209800230 1352,11654 2203 4300 6503 SO:0001583 missense D37766 CCDS1487.1 1q32 2013-03-01 2002-08-29 ENSG00000196878 ENSG00000196878 3914 Laminins 6490 protein-coding gene gene with protein product 150310 laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD)) LAMNB1 NA 8088808, 7774918 Standard NM_000228 NM_001127641 NA Approved nicein-125kDa, kalinin-140kDa, BM600-125kDa uc001hhh.3 Q13751 OTTHUMG00000036360 ENST00000356082.4:c.1579G>A chr1.hg19:g.209800230C>T ENSP00000348384:p.Val527Met NA D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1 hg19 CCDS1487.1 0.02 4.481916 CCAxGTC COVERED 549 0.25137362637362637 152 0.3089430894308943 64 0.17679558011049723 316 0.5524475524475524 17 0.022427440633245383 C 12.40 1.928006 0.34002 0.253972 0.027093 ENSG00000196878 ENST00000391911;ENST00000356082;ENST00000367030 T;T;T 0.37584 1.19;1.19;1.19 5.7 -2.52 0.06346 EGF-like, laminin (2); 0.874440 0.10322 N 0.688667 T 0.00012 0.0000 L 0.46157 1.445 0.80722 P 0.0 P 0.37466 0.596 B 0.41860 0.368 T 0.45659 -0.9246 9 0.49607 T 0.09 . 9.2048 0.37282 0.0:0.3786:0.0996:0.5218 rs2076349;rs2228341;rs57395029;rs2076349 527 Q13751 LAMB3_HUMAN M 527 ENSP00000375778:V527M;ENSP00000348384:V527M;ENSP00000355997:V527M ENSP00000348384:V527M V - 1 0 LAMB3 207866853 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -1.157000 0.03157 -0.334000 0.08463 -0.142000 0.14014 GTG NOVEL LAMB3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000088525.2 0 18.659342 KEEP 0 0 0 62 2169 CC 1 1 0 - 12 60 440 0 0 32.102855 124 60 4481 258 ENST00000356082.4 0.088235 1 LAMB3 3914 __UNKNOWN__ __UNKNOWN__ 1 209800341 209800341 __UNKNOWN__ Intron SNP C C T rs2076350 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:209800341C>T ENST00000356082.4 - 13 1620 LAMB3_ENST00000391911.1_Intron|LAMB3_ENST00000367030.3_Intron NM_000228.2 NP_000219.2 Q13751 LAMB3_HUMAN laminin, beta 3 NA NA brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581) extracellular region (GO:0005576)|laminin-5 complex (GO:0005610) structural molecule activity (GO:0005198) NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 OV - Ovarian serous cystadenocarcinoma(81;0.0519) GGGAGAGCACCGTCAGTGGAC 0.627 NA C||| 1288 0.257188 0.3185 0.2061 5008 , , NA 19814 0.5873 NA 0.0278 False NA ,,, NA NA NA 2504 0.1063 NA NA NA NA 0 C ,, 1099,3305 138,823,1241 46 36 39 ,, -9.4 0 1 dbSNP_96 39 231,8363 2,227,4068 no intron,intron,intron LAMB3 NM_000228.2,NM_001017402.1,NM_001127641.1 ,, 140,1050,5309 TT,TC,CC 2.6879,24.9546,10.2323 ,, ,, 209800341 1330,11668 2202 4297 6499 SO:0001627 intron_variant D37766 CCDS1487.1 1q32 2013-03-01 2002-08-29 ENSG00000196878 ENSG00000196878 3914 Laminins 6490 protein-coding gene gene with protein product 150310 laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD)) LAMNB1 NA 8088808, 7774918 Standard NM_000228 NM_001127641 NA Approved nicein-125kDa, kalinin-140kDa, BM600-125kDa uc001hhh.3 Q13751 OTTHUMG00000036360 ENST00000356082.4:c.1486-18G>A chr1.hg19:g.209800341C>T NA D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1 hg19 CCDS1487.1 0.02 6.379443 CACxGTC COVERED NOVEL LAMB3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000088525.2 0 18.357084 KEEP 0 0 0 61 2051 CC 1 1 0 - 6 60 221 0 0 13.891482 152 60 5294 278 ENST00000356082.4 0.037975 1 LAMB3 3914 __UNKNOWN__ __UNKNOWN__ 1 209801058 209801058 __UNKNOWN__ Intron SNP C C T rs2072939 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:209801058C>T ENST00000356082.4 - 12 1423 LAMB3_ENST00000391911.1_Intron|LAMB3_ENST00000367030.3_Intron NM_000228.2 NP_000219.2 Q13751 LAMB3_HUMAN laminin, beta 3 NA NA brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581) extracellular region (GO:0005576)|laminin-5 complex (GO:0005610) structural molecule activity (GO:0005198) NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 OV - Ovarian serous cystadenocarcinoma(81;0.0519) ACATGGCTGACTCACAGGACC 0.632 NA OREG0014217 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) C||| 461 0.0920527 0.0015 0.0764 5008 , , NA 18269 0.2887 NA 0.0219 False NA ,,, NA NA NA 2504 0.0951 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D37766 CCDS1487.1 1q32 2013-03-01 2002-08-29 ENSG00000196878 ENSG00000196878 3914 Laminins 6490 protein-coding gene gene with protein product 150310 laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD)) LAMNB1 NA 8088808, 7774918 Standard NM_000228 NM_001127641 NA Approved nicein-125kDa, kalinin-140kDa, BM600-125kDa uc001hhh.3 Q13751 OTTHUMG00000036360 ENST00000356082.4:c.1289-134G>A chr1.hg19:g.209801058C>T 2185 D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1 hg19 CCDS1487.1 0.02 3.645915 TGAxTCA COVERED NOVEL LAMB3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000088525.2 0 4.815077 KEEP 0 0 0 16 544 CC 0.997832 0.997831 0 - 5 60 176 0 0 10.804609 124 60 4569 150 ENST00000356082.4 0.03876 1 LAMB3 3914 __UNKNOWN__ __UNKNOWN__ 1 209823166 209823166 __UNKNOWN__ Intron SNP T T G rs12089371 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:209823166T>G ENST00000356082.4 - 3 318 LAMB3_ENST00000391911.1_Intron|LAMB3_ENST00000367030.3_Intron NM_000228.2 NP_000219.2 Q13751 LAMB3_HUMAN laminin, beta 3 NA NA brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581) extracellular region (GO:0005576)|laminin-5 complex (GO:0005610) structural molecule activity (GO:0005198) NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 OV - Ovarian serous cystadenocarcinoma(81;0.0519) ggatctggccttatactttta 0.443 NA T||| 253 0.0505192 0.0 0.0014 5008 , , NA 23600 0.1657 NA 0.002 False NA ,,, NA NA NA 2504 0.0849 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D37766 CCDS1487.1 1q32 2013-03-01 2002-08-29 ENSG00000196878 ENSG00000196878 3914 Laminins 6490 protein-coding gene gene with protein product 150310 laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD)) LAMNB1 NA 8088808, 7774918 Standard NM_000228 NM_001127641 NA Approved nicein-125kDa, kalinin-140kDa, BM600-125kDa uc001hhh.3 Q13751 OTTHUMG00000036360 ENST00000356082.4:c.183+142A>C chr1.hg19:g.209823166T>G NA D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1 hg19 CCDS1487.1 0.02 1.356111 GCCxTAT COVERED NOVEL LAMB3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000088525.2 0 5.717329 KEEP 0 0 0 19 595 TT 0.99986 0.999779 0 - 5 60 162 0 0 10.085034 90 60 3377 122 ENST00000356082.4 0.052632 0.999919 TRAF3IP3 80342 __UNKNOWN__ __UNKNOWN__ 1 209951602 209951602 __UNKNOWN__ Intron SNP G G A rs12083685 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:209951602G>A ENST00000477431.1 + 5 533 TRAF3IP3_ENST00000367025.3_Intron|TRAF3IP3_ENST00000010338.4_Intron|TRAF3IP3_ENST00000367026.3_Intron|TRAF3IP3_ENST00000400959.3_Intron|TRAF3IP3_ENST00000367024.1_Intron|TRAF3IP3_ENST00000367023.1_Intron Q9Y228 T3JAM_HUMAN TRAF3 interacting protein 3 NA NA integral component of membrane (GO:0016021) breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 OV - Ovarian serous cystadenocarcinoma(81;0.045) TAGGGACTAAGGGCCCAGTCT 0.478 NA G||| 845 0.16873 0.2065 0.2017 5008 , , NA 18014 0.3244 NA 0.0149 False NA ,,, NA NA NA 2504 0.092 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS1490.1, CCDS1490.2, CCDS73023.1 1q32.3-q41 2008-02-05 ENSG00000009790 ENSG00000009790 80342 30766 protein-coding gene gene with protein product TRAF3 interacting Jun N terminal kinase (JNK) activating modulator 608255 NA 14572659 Standard XR_247044 NA Approved T3JAM uc001hho.3 Q9Y228 OTTHUMG00000036480 ENST00000477431.1:c.397+770G>A chr1.hg19:g.209951602G>A NA A1L464|A6NIU9|Q2YDB5|Q4VY06|Q7Z706 hg19 0.02 3.87997 TAAxGGC COVERED NOVEL TRAF3IP3-017 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000357976.1 2 3.310571 KEEP 0 0 0 11 370 GG 0.993072 0.993072 0 + 5 60 178 0 0 11.073262 120 60 4279 138 ENST00000477431.1 0.04 0.999999 SYT14 255928 __UNKNOWN__ __UNKNOWN__ 1 210335429 210335429 __UNKNOWN__ 3'UTR SNP A A G rs79182420 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:210335429A>G ENST00000472886.1 + 0 2724 SYT14_ENST00000534859.1_3'UTR|SYT14_ENST00000367015.1_3'UTR|SYT14_ENST00000537238.1_3'UTR|SYT14_ENST00000422431.1_3'UTR|SYT14_ENST00000399639.2_3'UTR|SYT14_ENST00000367019.1_3'UTR|SYT14_ENST00000271745.7_3'UTR Q8NB59 SYT14_HUMAN synaptotagmin XIV NA NA cell death (GO:0008219) integral component of membrane (GO:0016021) phospholipid binding (GO:0005543) endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3) 37 OV - Ovarian serous cystadenocarcinoma(81;0.085) ACTTCAATTTATATTTGTGAT 0.318 NA A||| 163 0.0325479 0.0 0.0 5008 , , NA 18504 0.0813 NA 0.001 False NA ,,, NA NA NA 2504 0.0818 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK091517 CCDS31014.1, CCDS53470.1, CCDS58058.1 1q32.2 2013-01-21 ENSG00000143469 ENSG00000143469 255928 Synaptotagmins 23143 protein-coding gene gene with protein product 610949 NA Standard NM_153262 NM_001256006 NA Approved sytXIV, FLJ34198 uc001hhs.5 Q8NB59 OTTHUMG00000036652 ENST00000472886.1:c.*1042A>G chr1.hg19:g.210335429A>G NA B1AJU0|B1AJU1|F5H426|Q5THX7|Q707N3|Q707N4|Q707N5|Q707N6|Q707N7 hg19 CCDS31014.1 0.02 5.042796 TTTxTAT COVERED NOVEL SYT14-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000089124.1 0 4.814331 KEEP 0 0 0 16 493 AA 0.997832 0.997831 0 + 5 60 204 0 0 13.600438 124 60 4501 162 ENST00000472886.1 0.03876 1 HHAT 55733 __UNKNOWN__ __UNKNOWN__ 1 210637777 210637777 __UNKNOWN__ Intron SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:210637777G>A ENST00000367010.1 + 8 1083 HHAT_ENST00000545154.1_Intron|HHAT_ENST00000541565.1_Intron|HHAT_ENST00000413764.2_Intron|HHAT_ENST00000537898.1_Intron|HHAT_ENST00000308852.6_Intron|HHAT_ENST00000261458.3_Intron|HHAT_ENST00000391905.3_Intron|HHAT_ENST00000545781.1_Intron|HHAT_ENST00000367009.1_Intron NM_001170580.1 NP_001164051.1 Q5VTY9 HHAT_HUMAN hedgehog acyltransferase NA NA multicellular organismal development (GO:0007275)|protein palmitoylation (GO:0018345)|smoothened signaling pathway (GO:0007224) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) GTP binding (GO:0005525)|palmitoyltransferase activity (GO:0016409) breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215) CATAGCTCCTGGGGTGTTGGT 0.502 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK001586 CCDS1495.1, CCDS53471.1, CCDS53472.1, CCDS53473.1 1q32 2008-02-05 ENSG00000054392 ENSG00000054392 55733 18270 protein-coding gene gene with protein product 605743 NA 11160356 Standard NM_018194 NM_001170587 NA Approved FLJ10724, MART-2, MART2, Skn, ski, rasp, sit, GUP2 uc009xcx.3 Q5VTY9 OTTHUMG00000036447 ENST00000367010.1:c.857-72G>A chr1.hg19:g.210637777G>A NA B7Z4D5|B7Z5I1|B7Z868|B7ZA75|D3DT91|F5H444|Q17RZ7|Q4G0K3|Q5CZ95|Q5TGI2|Q9NVH9|Q9Y3N8 hg19 CCDS1495.1 0.02 13.435229 CCTxGGG COVERED NOVEL HHAT-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000088662.1 3 11.437449 KEEP 0 0 0 38 1358 GG 1 1 0 + 15 60 519 0 0 32.373348 326 60 12484 434 ENST00000367010.1 0.043988 1 HHAT 55733 __UNKNOWN__ __UNKNOWN__ 1 210804430 210804430 __UNKNOWN__ Intron SNP G G A rs4951682 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:210804430G>A ENST00000367010.1 + 11 1617 HHAT_ENST00000545154.1_Intron|HHAT_ENST00000541565.1_Intron|HHAT_ENST00000413764.2_Intron|HHAT_ENST00000537898.1_Intron|HHAT_ENST00000308852.6_Intron|HHAT_ENST00000261458.3_Intron|HHAT_ENST00000391905.3_Missense_Mutation_p.V494I|HHAT_ENST00000545781.1_Intron|HHAT_ENST00000367009.1_Intron NM_001170580.1 NP_001164051.1 Q5VTY9 HHAT_HUMAN hedgehog acyltransferase NA NA multicellular organismal development (GO:0007275)|protein palmitoylation (GO:0018345)|smoothened signaling pathway (GO:0007224) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) GTP binding (GO:0005525)|palmitoyltransferase activity (GO:0016409) breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215) acaaacagaggtactggctac 0.378 NA G||| 1019 0.203474 0.2005 0.1974 5008 , , NA 19235 0.2609 NA 0.2137 False NA ,,, NA NA NA 2504 0.1421 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK001586 CCDS1495.1, CCDS53471.1, CCDS53472.1, CCDS53473.1 1q32 2008-02-05 ENSG00000054392 ENSG00000054392 55733 18270 protein-coding gene gene with protein product 605743 NA 11160356 Standard NM_018194 NM_001170587 NA Approved FLJ10724, MART-2, MART2, Skn, ski, rasp, sit, GUP2 uc009xcx.3 Q5VTY9 OTTHUMG00000036447 ENST00000367010.1:c.1390+7416G>A chr1.hg19:g.210804430G>A NA B7Z4D5|B7Z5I1|B7Z868|B7ZA75|D3DT91|F5H444|Q17RZ7|Q4G0K3|Q5CZ95|Q5TGI2|Q9NVH9|Q9Y3N8 hg19 CCDS1495.1 0.02 11.30287 GAGxTAC COVERED 512 0.23443223443223443 102 0.2073170731707317 80 0.22099447513812154 173 0.30244755244755245 157 0.20712401055408972 G 8.628 0.893110 0.17613 . . ENSG00000054392 ENST00000391905 T 0.17691 2.26 1.73 -2.32 0.06745 . 0.117169 0.64402 D 0.000018 T 0.00012 0.0000 . . . 0.80722 P 0.0 . . . . . . T 0.37979 -0.9682 6 0.49607 T 0.09 . 5.6681 0.17707 0.6375:0.0:0.3625:0.0 rs4951682;rs61049862;rs4951682 . . . I 494 ENSP00000375773:V494I ENSP00000375773:V494I V + 1 0 HHAT 208871053 0.000000 0.05858 0.001000 0.08648 0.009000 0.06853 -0.910000 0.04054 -0.682000 0.05197 -0.199000 0.12753 GTA NOVEL HHAT-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000088662.1 1 12.941064 KEEP 0 0 0 43 1484 GG 1 1 0 + 11 60 415 0 0 26.457412 278 60 10165 402 ENST00000367010.1 0.038062 1 KCNH1 3756 __UNKNOWN__ __UNKNOWN__ 1 211211535 211211535 __UNKNOWN__ Intron SNP C C T rs148732491 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:211211535C>T ENST00000271751.4 - 6 586 KCNH1_ENST00000367007.4_Intron O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 1 NA NA myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268) nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076) delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) gatctcctgacctcgtgatct 0.547 NA C||| 381 0.0760783 0.0401 0.0951 5008 , , NA 16239 0.0804 NA 0.0447 False NA ,,, NA NA NA 2504 0.1391 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ001366 CCDS1496.1, CCDS31015.1 1q32.2 2012-07-05 ENSG00000143473 ENSG00000143473 3756 Potassium channels, Voltage-gated ion channels / Potassium channels 6250 protein-coding gene gene with protein product 603305 NA 9738473, 16382104 Standard NM_002238 NM_172362 NA Approved Kv10.1, eag, h-eag, eag1 uc001hib.2 O95259 OTTHUMG00000036309 ENST00000271751.4:c.559-18937G>A chr1.hg19:g.211211535C>T NA B1AQ26|O76035|Q14CL3 hg19 CCDS1496.1 0.02 -0.061412 TGAxCTC UNCOVERED NOVEL KCNH1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000088332.1 3 3.611551 KEEP 5 0 0 12 426 CC 0 0 0 - 4 60 142 0 0 14.031973 3 60 117 27 ENST00000271751.4 0.571429 0.043787 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 211381341 211381341 __UNKNOWN__ IGR SNP A A T rs117966435 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:211381341A>T NA NA RP11-543B16.3 (24895 upstream) : AC092017.1 (2989 downstream) NA NA NA AGCCCTATCTACTGTCTGGGT 0.522 NA A||| 381 0.0760783 0.0015 0.085 5008 , , NA 19747 0.2768 NA 0.002 False NA ,,, NA NA NA 2504 0.0399 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.211381341A>T NA hg19 0.02 11.110871 TCTxCTG COVERED NOVEL 0 1 9.026895 KEEP 0 0 0 30 926 AA 0.999997 0.999997 0 12 60 415 0 0 26.135495 265 60 9129 368 0.043321 1 TRAF5 7188 __UNKNOWN__ __UNKNOWN__ 1 211547366 211547366 __UNKNOWN__ 3'UTR SNP C C A rs58510761 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:211547366C>A ENST00000261464.5 + 0 3050 TRAF5_ENST00000336184.2_3'UTR NM_001033910.2 NP_001029082.1 O00463 TRAF5_HUMAN TNF receptor-associated factor 5 NA NA apoptotic process (GO:0006915)|positive regulation of cell proliferation (GO:0008284)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165) CD40 receptor complex (GO:0035631)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829) signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144) tgacccaccgcgtcaagccTC 0.458 NA C||| 439 0.0876597 0.0469 0.0994 5008 , , NA 19142 0.2381 NA 0.0129 False NA ,,, NA NA NA 2504 0.0562 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB000509 CCDS1497.1 1q32 2008-02-05 ENSG00000082512 ENSG00000082512 7188 RING-type (C3HC4) zinc fingers 12035 protein-coding gene gene with protein product 602356 NA 9126477 Standard NM_004619 NM_001033910 NA Approved RNF84 uc001hii.3 O00463 OTTHUMG00000036997 ENST00000261464.5:c.*1322C>A chr1.hg19:g.211547366C>A NA B4DIS9|B4E0A2|Q6FHY1 hg19 CCDS1497.1 0.02 1.968422 CCGxGTC COVERED NOVEL TRAF5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000089825.1 3 8.427234 KEEP 0 0 0 28 986 CC 0.999997 0.999404 0 + 7 60 252 0 0 18.15525 75 60 2714 131 ENST00000261464.5 0.085366 0.999407 LINC00467 84791 __UNKNOWN__ __UNKNOWN__ 1 211590326 211590326 __UNKNOWN__ RNA SNP A A G rs12039683 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:211590326A>G ENST00000423222.1 + 0 420 NR_026761.2 Q9BRT7 CA097_HUMAN long intergenic non-protein coding RNA 467 NA NA NA GGAAACTCACATGAGTCAGCT 0.567 NA a||| 375 0.0748802 0.0045 0.0908 5008 , , NA 13255 0.2371 NA 0.0119 False NA ,,, NA NA NA 2504 0.0562 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA BC005997 1q32.3 2014-03-04 2013-12-05 2013-12-05 ENSG00000153363 ENSG00000153363 84791 Long non-coding RNAs 28227 non-coding RNA RNA, long non-coding chromosome 1 open reading frame 97 C1orf97 NA 24586304 Standard NR_026761 NR_026761 NA Approved MGC14801 uc001hil.4 Q9BRT7 OTTHUMG00000036998 ENST00000423222.1: chr1.hg19:g.211590326A>G NA hg19 0.02 -0.342137 CACxTGA COVERED NOVEL LINC00467-001 KNOWN basic processed_transcript NA processed_transcript OTTHUMT00000089831.3 0 2.407262 KEEP 0 0 0 8 251 AA 0.99257 0.859313 0 + 7 60 255 0 0 20.869764 32 60 1151 54 ENST00000423222.1 0.179487 0.865745 RD3 343035 __UNKNOWN__ __UNKNOWN__ 1 211651035 211651035 __UNKNOWN__ 3'UTR SNP C C G rs11119746 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:211651035C>G ENST00000367002.4 - 0 3094 RD3_ENST00000484910.1_5'UTR NM_001164688.1|NM_183059.2 NP_001158160.1|NP_898882.1 Q7Z3Z2 RD3_HUMAN retinal degeneration 3 NA NA response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601) central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 10 OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689) AAAACCAAATCATTCAAAAAA 0.368 NA C||| 1240 0.247604 0.3646 0.2378 5008 , , NA 17319 0.3135 NA 0.1243 False NA ,,, NA NA NA 2504 0.1554 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY191519 CCDS1498.1 1q32.3 2008-02-05 2006-11-13 2006-11-13 ENSG00000198570 ENSG00000198570 343035 19689 protein-coding gene gene with protein product 180040 chromosome 1 open reading frame 36 C1orf36 NA 12914764 Standard NM_183059 NM_183059 NA Approved LCA12 uc001hin.2 Q7Z3Z2 OTTHUMG00000037002 ENST00000367002.4:c.*1343G>C chr1.hg19:g.211651035C>G NA A8K595 hg19 CCDS1498.1 0.02 7.069028 AATxATT COVERED NOVEL RD3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000089837.1 0 5.453351 KEEP 0 1 34 30 1054 CC 0.999997 0.999997 0 - 12 60 456 0 0 31.807021 181 60 6934 259 ENST00000367002.4 0.062176 1 RD3 343035 __UNKNOWN__ __UNKNOWN__ 1 211651047 211651047 __UNKNOWN__ 3'UTR SNP C C T rs11119747 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:211651047C>T ENST00000367002.4 - 0 3082 RD3_ENST00000484910.1_5'UTR NM_001164688.1|NM_183059.2 NP_001158160.1|NP_898882.1 Q7Z3Z2 RD3_HUMAN retinal degeneration 3 NA NA response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601) central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 10 OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689) TTCAAAAAAACTTTTTTCCAC 0.368 NA C||| 1240 0.247604 0.3646 0.2378 5008 , , NA 17392 0.3135 NA 0.1243 False NA ,,, NA NA NA 2504 0.1554 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY191519 CCDS1498.1 1q32.3 2008-02-05 2006-11-13 2006-11-13 ENSG00000198570 ENSG00000198570 343035 19689 protein-coding gene gene with protein product 180040 chromosome 1 open reading frame 36 C1orf36 NA 12914764 Standard NM_183059 NM_183059 NA Approved LCA12 uc001hin.2 Q7Z3Z2 OTTHUMG00000037002 ENST00000367002.4:c.*1331G>A chr1.hg19:g.211651047C>T NA A8K595 hg19 CCDS1498.1 0.02 8.973488 AAAxTTT COVERED NOVEL RD3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000089837.1 0 6.953297 KEEP 0 1 34 35 1222 CC 0.999999 0.999999 0 - 14 60 514 0 0 35.629574 200 60 7514 287 ENST00000367002.4 0.065421 1 RD3 343035 __UNKNOWN__ __UNKNOWN__ 1 211652010 211652010 __UNKNOWN__ 3'UTR SNP T T A rs1947058 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:211652010T>A ENST00000367002.4 - 0 2119 RD3_ENST00000484910.1_5'UTR NM_001164688.1|NM_183059.2 NP_001158160.1|NP_898882.1 Q7Z3Z2 RD3_HUMAN retinal degeneration 3 NA NA response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601) central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 10 OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689) GAAATTGGGGTGAGAACCTAG 0.532 NA T||| 1239 0.247404 0.3638 0.2378 5008 , , NA 19607 0.3135 NA 0.1243 False NA ,,, NA NA NA 2504 0.1554 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY191519 CCDS1498.1 1q32.3 2008-02-05 2006-11-13 2006-11-13 ENSG00000198570 ENSG00000198570 343035 19689 protein-coding gene gene with protein product 180040 chromosome 1 open reading frame 36 C1orf36 NA 12914764 Standard NM_183059 NM_183059 NA Approved LCA12 uc001hin.2 Q7Z3Z2 OTTHUMG00000037002 ENST00000367002.4:c.*368A>T chr1.hg19:g.211652010T>A NA A8K595 hg19 CCDS1498.1 0.02 7.142277 GGGxGAG COVERED NOVEL RD3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000089837.1 0 6.017313 KEEP 0 0 0 20 609 TT 0.999863 0.999863 0 - 10 60 365 0 0 24.391305 175 60 5893 252 ENST00000367002.4 0.054054 1 NEK2 4751 __UNKNOWN__ __UNKNOWN__ 1 211840278 211840278 __UNKNOWN__ Intron SNP T T C rs1542140 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:211840278T>C ENST00000366999.4 - 7 1250 NEK2_ENST00000540251.1_Intron|NEK2_ENST00000462283.1_Intron|NEK2_ENST00000366998.3_3'UTR NM_002497.3 NP_002488.1 P51955 NEK2_HUMAN NIMA-related kinase 2 NA NA blastocyst development (GO:0001824)|centrosome separation (GO:0051299)|chromosome segregation (GO:0007059)|G2/M transition of mitotic cell cycle (GO:0000086)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of centriole-centriole cohesion (GO:1903126)|negative regulation of DNA binding (GO:0043392)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of mitosis (GO:0007088)|regulation of mitotic centrosome separation (GO:0046602)|spindle assembly (GO:0051225)|spindle assembly involved in mitosis (GO:0090307) centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|microtubule (GO:0005874)|midbody (GO:0030496)|nucleus (GO:0005634)|protein complex (GO:0043234)|spindle pole (GO:0000922) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674) breast(2)|stomach(1) 3 OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546) AAATAAATCATTGCTATAACA 0.299 NA T||| 1443 0.288139 0.1528 0.3141 5008 , , NA 17226 0.4613 NA 0.2425 False NA ,,, NA NA NA 2504 0.3211 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U11050 CCDS1500.1, CCDS55682.1, CCDS73024.1 1q32.3 2014-06-12 2012-11-15 ENSG00000117650 ENSG00000117650 4751 7745 protein-coding gene gene with protein product HsPK 21, protein phosphatase 1, regulatory subunit 111 604043 NIMA (never in mitosis gene a)-related kinase 2 NA 8274451, 24043777 Standard NM_002497 NM_002497 NA Approved NLK1, NEK2A, RP67, PPP1R111 uc001hir.2 P51955 OTTHUMG00000037121 ENST00000366999.4:c.1111+169A>G chr1.hg19:g.211840278T>C NA Q53FD6|Q5I1Z9|Q5VXZ1|Q6NZX8|Q7Z634|Q86XH2|Q96QN9 hg19 CCDS1500.1 0.02 1.930074 TCAxTGC COVERED NOVEL NEK2-001 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000090154.1 1 3.610366 KEEP 0 0 0 12 365 TT 0.993634 0.992109 0 - 5 60 184 0 0 12.810072 70 60 2536 97 ENST00000366999.4 0.066667 0.998465 NEK2 4751 __UNKNOWN__ __UNKNOWN__ 1 211847579 211847579 __UNKNOWN__ Intron SNP G G T rs2305015 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:211847579G>T ENST00000366999.4 - 2 453 NEK2_ENST00000540251.1_Intron|NEK2_ENST00000366998.3_Intron NM_002497.3 NP_002488.1 P51955 NEK2_HUMAN NIMA-related kinase 2 NA NA blastocyst development (GO:0001824)|centrosome separation (GO:0051299)|chromosome segregation (GO:0007059)|G2/M transition of mitotic cell cycle (GO:0000086)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of centriole-centriole cohesion (GO:1903126)|negative regulation of DNA binding (GO:0043392)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of mitosis (GO:0007088)|regulation of mitotic centrosome separation (GO:0046602)|spindle assembly (GO:0051225)|spindle assembly involved in mitosis (GO:0090307) centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|microtubule (GO:0005874)|midbody (GO:0030496)|nucleus (GO:0005634)|protein complex (GO:0043234)|spindle pole (GO:0000922) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674) breast(2)|stomach(1) 3 OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546) AAAACAAGATGCTTAAAATAA 0.333 NA G||| 396 0.0790735 0.0 0.0504 5008 , , NA 20801 0.244 NA 0.0388 False NA ,,, NA NA NA 2504 0.0777 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U11050 CCDS1500.1, CCDS55682.1, CCDS73024.1 1q32.3 2014-06-12 2012-11-15 ENSG00000117650 ENSG00000117650 4751 7745 protein-coding gene gene with protein product HsPK 21, protein phosphatase 1, regulatory subunit 111 604043 NIMA (never in mitosis gene a)-related kinase 2 NA 8274451, 24043777 Standard NM_002497 NM_002497 NA Approved NLK1, NEK2A, RP67, PPP1R111 uc001hir.2 P51955 OTTHUMG00000037121 ENST00000366999.4:c.314+58C>A chr1.hg19:g.211847579G>T NA Q53FD6|Q5I1Z9|Q5VXZ1|Q6NZX8|Q7Z634|Q86XH2|Q96QN9 hg19 CCDS1500.1 0.02 3.909626 GATxCTT COVERED NOVEL NEK2-001 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000090154.1 0 5.41714 KEEP 0 0 0 18 617 GG 0.999859 0.999859 0 - 6 60 207 0 0 12.949819 127 60 4787 151 ENST00000366999.4 0.045113 1 NEK2 4751 __UNKNOWN__ __UNKNOWN__ 1 211847586 211847586 __UNKNOWN__ Intron SNP A A T rs2305014 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:211847586A>T ENST00000366999.4 - 2 453 NEK2_ENST00000540251.1_Intron|NEK2_ENST00000366998.3_Intron NM_002497.3 NP_002488.1 P51955 NEK2_HUMAN NIMA-related kinase 2 NA NA blastocyst development (GO:0001824)|centrosome separation (GO:0051299)|chromosome segregation (GO:0007059)|G2/M transition of mitotic cell cycle (GO:0000086)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of centriole-centriole cohesion (GO:1903126)|negative regulation of DNA binding (GO:0043392)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of mitosis (GO:0007088)|regulation of mitotic centrosome separation (GO:0046602)|spindle assembly (GO:0051225)|spindle assembly involved in mitosis (GO:0090307) centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|microtubule (GO:0005874)|midbody (GO:0030496)|nucleus (GO:0005634)|protein complex (GO:0043234)|spindle pole (GO:0000922) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674) breast(2)|stomach(1) 3 OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546) GATGCTTAAAATAAATGAAAC 0.353 NA A||| 398 0.0794728 0.0015 0.0504 5008 , , NA 20556 0.244 NA 0.0388 False NA ,,, NA NA NA 2504 0.0777 NA NA NA NA 0 A ,, 28,1722 0,28,847 26 25 25 ,, -1.9 0 1 dbSNP_100 25 130,3852 3,124,1864 no intron,intron,intron NEK2 NM_001204182.1,NM_001204183.1,NM_002497.3 ,, 3,152,2711 TT,TA,AA 3.2647,1.6,2.7565 ,, ,, 211847586 158,5574 875 1991 2866 SO:0001627 intron_variant U11050 CCDS1500.1, CCDS55682.1, CCDS73024.1 1q32.3 2014-06-12 2012-11-15 ENSG00000117650 ENSG00000117650 4751 7745 protein-coding gene gene with protein product HsPK 21, protein phosphatase 1, regulatory subunit 111 604043 NIMA (never in mitosis gene a)-related kinase 2 NA 8274451, 24043777 Standard NM_002497 NM_002497 NA Approved NLK1, NEK2A, RP67, PPP1R111 uc001hir.2 P51955 OTTHUMG00000037121 ENST00000366999.4:c.314+51T>A chr1.hg19:g.211847586A>T NA Q53FD6|Q5I1Z9|Q5VXZ1|Q6NZX8|Q7Z634|Q86XH2|Q96QN9 hg19 CCDS1500.1 0.02 3.821683 AAAxTAA COVERED NOVEL NEK2-001 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000090154.1 0 6.620202 KEEP 0 0 0 22 708 AA 0.999879 0.999879 0 - 6 60 217 0 0 13.754034 137 60 4879 166 ENST00000366999.4 0.041958 1 LPGAT1 9926 __UNKNOWN__ __UNKNOWN__ 1 211922739 211922739 __UNKNOWN__ 3'UTR SNP A A G rs28428862 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:211922739A>G ENST00000366997.4 - 0 1841 NM_014873.2 NP_055688.1 Q92604 LGAT1_HUMAN lysophosphatidylglycerol acyltransferase 1 NA NA glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020) transferase activity, transferring acyl groups (GO:0016746) breast(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 OV - Ovarian serous cystadenocarcinoma(81;0.00773)|all cancers(67;0.0765)|Epithelial(68;0.114) TTACTGCAACAGACTGGAGTT 0.478 NA A||| 232 0.0463259 0.0 0.0605 5008 , , NA 19884 0.1806 NA 0.003 False NA ,,, NA NA NA 2504 0.0051 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D86960 CCDS31018.1 1q32.3 2008-05-14 2004-11-25 2004-11-26 ENSG00000123684 ENSG00000123684 9926 28985 protein-coding gene gene with protein product 610473 family with sequence similarity 34, member A FAM34A NA 9039502, 15485873 Standard NM_014873 NM_014873 NA Approved KIAA0205, FAM34A1, NET8 uc001hiv.3 Q92604 OTTHUMG00000037120 ENST00000366997.4:c.*502T>C chr1.hg19:g.211922739A>G NA Q53YL2 hg19 CCDS31018.1 0.02 6.281426 AACxGAC COVERED NOVEL LPGAT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000090150.1 1 8.726796 KEEP 0 0 0 29 923 AA 0.999997 0.999997 0 - 7 60 248 0 0 15.4916 162 60 6006 226 ENST00000366997.4 0.04142 1 DTL 51514 __UNKNOWN__ __UNKNOWN__ 1 212276276 212276276 __UNKNOWN__ Silent SNP A A G rs17853180 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:212276276A>G ENST00000366991.4 + 15 2501 c.2187A>G c.(2185-2187)gaA>gaG p.E729E DTL_ENST00000475419.1_3'UTR|DTL_ENST00000542077.1_Silent_p.E687E NM_016448.2 NP_057532.2 Q9NZJ0 DTL_HUMAN denticleless E3 ubiquitin protein ligase homolog (Drosophila) 729 NA cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|regulation of cell cycle (GO:0051726)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)|ubiquitin-dependent protein catabolic process (GO:0006511) centrosome (GO:0005813)|chromosome (GO:0005694)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634) p.E729E(1) breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102) ACTCAACAGAATTATAGAttc 0.423 NA A||| 421 0.0840655 0.0023 0.0965 5008 , , NA 17710 0.1806 NA 0.0696 False NA ,,, NA NA NA 2504 0.1012 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) A 46,4360 48.2+/-83.0 0,46,2157 59 58 58 2187 -3.1 0.4 1 dbSNP_123 58 473,8125 138.3+/-195.1 16,441,3842 no coding-synonymous DTL NM_016448.2 16,487,5999 GG,GA,AA 5.5013,1.044,3.9911 729/731 212276276 519,12485 2203 4299 6502 SO:0001819 synonymous_variant AF195765 CCDS1502.1, CCDS65778.1 1q32 2013-01-10 2012-02-23 ENSG00000143476 ENSG00000143476 51514 DDB1 and CUL4 associated factors, WD repeat domain containing 30288 protein-coding gene gene with protein product RA regulated nuclear matrix associated protein, DDB1 and CUL4 associated factor 2 610617 denticleless homolog (Drosophila) NA 11278750 Standard NM_016448 NM_001286229 NA Approved RAMP, L2DTL, DCAF2 uc009xdc.3 Q9NZJ0 OTTHUMG00000037133 ENST00000366991.4:c.2187A>G chr1.hg19:g.212276276A>G NA A8K8H8|D3DT98|Q5VT77|Q96SN0|Q9NW03|Q9NW34|Q9NWM5 hg19 CCDS1502.1 0.02 17.575156 AGAxTTA COVERED NOVEL DTL-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000090182.1 3 24.073274 KEEP 0 0 0 80 2558 AA 1 1 0 + 17 60 613 0 0 38.435096 408 60 14821 611 ENST00000366991.4 0.04 1 TMEM206 55248 __UNKNOWN__ __UNKNOWN__ 1 212588206 212588206 __UNKNOWN__ 5'UTR SNP C C G rs518793 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:212588206C>G ENST00000261455.4 - 0 31 TMEM206_ENST00000535273.1_5'UTR|TMEM206_ENST00000471937.1_5'UTR NM_018252.2 NP_060722.2 Q9H813 TM206_HUMAN transmembrane protein 206 NA NA cell surface (GO:0009986)|integral component of membrane (GO:0016021) breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2) 17 all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148) GAGGCGAAACCGGTCCGGAGG 0.701 NA C||| 960 0.191693 0.1415 0.2406 5008 , , NA 12629 0.1161 NA 0.335 False NA ,,, NA NA NA 2504 0.1554 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AK024066 CCDS1504.1, CCDS55687.1 1q32.3 2008-02-05 2008-01-17 2008-01-17 ENSG00000065600 ENSG00000065600 55248 25593 protein-coding gene gene with protein product chromosome 1 open reading frame 75 C1orf75 NA 12477932 Standard NM_018252 NM_018252 NA Approved FLJ10874 uc010pte.2 Q9H813 OTTHUMG00000036751 ENST00000261455.4:c.-107G>C chr1.hg19:g.212588206C>G NA B7Z4D6|Q6IA87|Q9NV85 hg19 CCDS1504.1 0.02 4.220997 AACxGGT COVERED NOVEL TMEM206-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000089306.1 0 3.113642 KEEP 0 3 96 44 1431 CC 1 1 0 - 5 60 183 0 0 11.27574 138 60 4539 201 ENST00000261455.4 0.034965 1 ATF3 467 __UNKNOWN__ __UNKNOWN__ 1 212788567 212788567 __UNKNOWN__ Silent SNP C C T rs2229346 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:212788567C>T ENST00000341491.4 + 2 469 c.204C>T c.(202-204)agC>agT p.S68S ATF3_ENST00000366983.1_Silent_p.S68S|ATF3_ENST00000492118.1_Intron|ATF3_ENST00000336937.4_Silent_p.S39S|ATF3_ENST00000366987.2_Silent_p.S68S|ATF3_ENST00000366985.1_Silent_p.S11S NM_001040619.2|NM_001206488.2|NM_001674.3 NP_001035709.1|NP_001193417.2|NP_001665.1 P18847 ATF3_HUMAN activating transcription factor 3 68 NA activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|gluconeogenesis (GO:0006094)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914) nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) identical protein binding (GO:0042802)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2) 6 OV - Ovarian serous cystadenocarcinoma(81;0.00628)|all cancers(67;0.0097)|GBM - Glioblastoma multiforme(131;0.0388)|Epithelial(68;0.0933) Pseudoephedrine(DB00852) TCACTGTCAGCGACAGACCCC 0.547 NA C||| 360 0.071885 0.0015 0.2507 5008 , , NA 19204 0.1488 NA 0.0239 False NA ,,, NA NA NA 2504 0.0102 NA NA NA NA 0 C ,,,,,, 40,4366 43.8+/-77.6 0,40,2163 59 58 58 204,204,,204,117,,204 3 0.8 1 dbSNP_98 58 225,8375 91.4+/-153.5 1,223,4076 no coding-synonymous,coding-synonymous,utr-5,coding-synonymous,coding-synonymous,intron,coding-synonymous ATF3 NM_001030287.3,NM_001040619.2,NM_001206484.2,NM_001206485.1,NM_001206486.2,NM_001206488.2,NM_001674.3 ,,,,,, 1,263,6239 TT,TC,CC 2.6163,0.9079,2.0375 ,,,,,, 68/182,68/136,,68/121,39/107,,68/182 212788567 265,12741 2203 4300 6503 SO:0001819 synonymous_variant L19871 CCDS1506.1, CCDS41464.1, CCDS55688.1, CCDS58059.1 1q32.3 2013-01-10 ENSG00000162772 ENSG00000162772 467 basic leucine zipper proteins 785 protein-coding gene gene with protein product 603148 NA 7515060 Standard NM_001674 NM_001674 NA Approved uc021pit.1 P18847 OTTHUMG00000036747 ENST00000341491.4:c.204C>T chr1.hg19:g.212788567C>T NA Q5VTZ2|Q6ICQ9|Q7Z566|Q8WYM6 hg19 CCDS1506.1 0.02 13.487693 CAGxGAC COVERED NOVEL ATF3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000089296.1 1 25.475276 KEEP 0 0 0 85 2745 CC 1 1 0 + 14 60 523 0 0 34.421721 286 60 9493 440 ENST00000341491.4 0.046667 1 FAM71A 149647 __UNKNOWN__ __UNKNOWN__ 1 212798601 212798601 __UNKNOWN__ Silent SNP C C A rs17019481 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:212798601C>A ENST00000294829.3 + 1 813 c.382C>A c.(382-384)Cgg>Agg p.R128R RP11-338C15.5_ENST00000427949.1_RNA NM_153606.3 NP_705834.2 Q8IYT1 FA71A_HUMAN family with sequence similarity 71, member A 128 NA nucleus (GO:0005634) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094) GAGGTTTGTACGGATCTCTGT 0.522 NA C||| 361 0.0720847 0.0015 0.2522 5008 , , NA 21113 0.1488 NA 0.0239 False NA ,,, NA NA NA 2504 0.0102 NA NA NA NA 0 C 39,4367 43.1+/-76.7 0,39,2164 95 100 98 382 0.7 0 1 dbSNP_123 98 221,8379 90.9+/-153.0 1,219,4080 no coding-synonymous FAM71A NM_153606.3 1,258,6244 AA,AC,CC 2.5698,0.8852,1.9991 128/595 212798601 260,12746 2203 4300 6503 SO:0001819 synonymous_variant CCDS1507.1 1q32.3 2008-02-05 ENSG00000162771 ENSG00000162771 149647 26541 protein-coding gene gene with protein product NA 12477932 Standard NM_153606 NM_153606 NA Approved FLJ32796 uc010pth.1 Q8IYT1 OTTHUMG00000041084 ENST00000294829.3:c.382C>A chr1.hg19:g.212798601C>A NA Q5VTZ1 hg19 CCDS1507.1 0.02 13.399091 GTAxGGA COVERED NOVEL FAM71A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000098529.1 1 14.746514 KEEP 0 0 0 49 1674 CC 1 1 0 + 15 60 540 0 0 35.068856 296 60 10355 424 ENST00000294829.3 0.048232 1 NSL1 25936 __UNKNOWN__ __UNKNOWN__ 1 212960866 212960866 __UNKNOWN__ Intron SNP C C T rs3738800 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:212960866C>T ENST00000366977.3 - 2 332 NSL1_ENST00000366978.1_Intron|NSL1_ENST00000473995.1_Intron|NSL1_ENST00000422588.2_Intron|NSL1_ENST00000366976.1_Intron|NSL1_ENST00000366975.6_Intron NM_015471.3 NP_056286.3 Q96IY1 NSL1_HUMAN NSL1, MIS12 kinetochore complex component NA NA chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067) cytosol (GO:0005829)|MIS12/MIND type complex (GO:0000444)|nucleus (GO:0005634) breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 9 OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102) CAAAAATAACCCAGAAATTAA 0.323 NA C||| 1105 0.220647 0.0242 0.4769 5008 , , NA 15772 0.3631 NA 0.171 False NA ,,, NA NA NA 2504 0.2086 NA NA NA NA 0 C , 212,4194 127.8+/-164.7 7,198,1998 53 52 52 , 0 0 1 dbSNP_107 52 1547,7053 286.5+/-297.7 156,1235,2909 no intron,intron NSL1 NM_001042549.1,NM_015471.3 , 163,1433,4907 TT,TC,CC 17.9884,4.8116,13.5245 , , 212960866 1759,11247 2203 4300 6503 SO:0001627 intron_variant AF255793 CCDS1509.1, CCDS73025.1 1q41 2013-07-03 2013-07-03 2006-11-07 ENSG00000117697 ENSG00000117697 25936 24548 protein-coding gene gene with protein product 609174 chromosome 1 open reading frame 48, NSL1, MIND kinetochore complex component, homolog (S. cerevisiae) C1orf48 NA 20819937 Standard NM_015471 NM_015471 NA Approved DC8, DKFZP566O1646, MIS14 uc001hjn.3 Q96IY1 OTTHUMG00000036806 ENST00000366977.3:c.313+34G>A chr1.hg19:g.212960866C>T NA E7ETD5|Q5SY75|Q9H2M5|Q9NRN8|Q9Y415 hg19 CCDS1509.1 0.02 18.32616 AACxCAG COVERED NOVEL NSL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000089398.2 2 19.851111 KEEP 0 0 0 66 2272 CC 1 1 0 - 35 60 1268 0 0 91.383861 384 60 13864 573 ENST00000366977.3 0.083532 1 C1orf227 0 __UNKNOWN__ __UNKNOWN__ 1 213009383 213009383 __UNKNOWN__ Nonsense_Mutation SNP G G A rs80161538 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:213009383G>A ENST00000332912.3 - 2 216 c.109C>T c.(109-111)Cga>Tga p.R37* NM_001024601.2 NP_001019772.1 Q537H7 SPT45_HUMAN 37 NA kidney(1)|large_intestine(1)|lung(1) 3 TGATTGCTTCGTTCCACCAAG 0.418 NA G||| 129 0.0257588 0.0 0.0 5008 , , NA 17926 0.127 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 G stop/ARG 0,4406 0,0,2203 195 181 186 109 -0.2 1 1 dbSNP_132 186 1,8593 1.2+/-3.3 0,1,4296 yes stop-gained C1orf227 NM_001024601.2 0,1,6499 AA,AG,GG 0.0116,0.0,0.0077 37/99 213009383 1,12999 2203 4297 6500 SO:0001587 stop_gained NA NA NA NA ENST00000332912.3:c.109C>T chr1.hg19:g.213009383G>A ENSP00000419160:p.Arg37* NA hg19 CCDS31020.1 0.02 13.499767 TTCxTTC COVERED 53 0.024267399267399268 0 0.0 0 0.0 53 0.09265734265734266 0 0.0 G 19.53 3.844371 0.71488 0.0 1.16E-4 ENSG00000185523 ENST00000332912 . . . 4.71 -0.233 0.13078 . 0.000000 0.53938 D 0.000042 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.02654 T 1 -24.2361 4.464 0.11680 0.0:0.1867:0.3576:0.4558 . . . . X 37 . ENSP00000419160:R37X R - 1 2 C1orf227 211076006 1.000000 0.71417 0.990000 0.47175 0.653000 0.38743 1.186000 0.32078 -0.046000 0.13446 -0.995000 0.02519 CGA NOVEL C1orf227-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000089672.2 2 9.765174 KEEP 0 1 24 41 1437 GG 1 1 0 - 12 60 453 0 0 28.412247 333 60 11616 466 ENST00000332912.3 0.034783 1 FLVCR1 28982 __UNKNOWN__ __UNKNOWN__ 1 213061362 213061362 __UNKNOWN__ Intron SNP T T A rs2291772 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:213061362T>A ENST00000366971.4 + 6 1505 FLVCR1_ENST00000483790.1_Intron NM_014053.3 NP_054772.1 Q9Y5Y0 FLVC1_HUMAN feline leukemia virus subgroup C cellular receptor 1 NA NA blood vessel development (GO:0001568)|cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|head morphogenesis (GO:0060323)|heme export (GO:0097037)|heme transport (GO:0015886)|in utero embryonic development (GO:0001701)|mitochondrial transport (GO:0006839)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|regulation of organ growth (GO:0046620)|spleen development (GO:0048536)|transmembrane transport (GO:0055085)|transport (GO:0006810) integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886) heme transporter activity (GO:0015232)|transporter activity (GO:0005215) cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2) 12 OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11) CAGATGTGTTTAGGAGGAATG 0.313 NA T||| 1426 0.284744 0.1732 0.4942 5008 , , NA 16095 0.4415 NA 0.1869 False NA ,,, NA NA NA 2504 0.226 NA NA NA Esophageal Squamous(199;2235 2952 19233 26256) NA 0 T 769,3635 309.1+/-290.9 77,615,1510 136 135 136 -2.3 0 1 dbSNP_100 136 1803,6797 319.2+/-314.1 194,1415,2691 no intron FLVCR1 NM_014053.3 271,2030,4201 AA,AT,TT 20.9651,17.4614,19.7785 213061362 2572,10432 2202 4300 6502 SO:0001627 intron_variant AF118637 CCDS1510.1 1q32.3 2014-05-30 ENSG00000162769 ENSG00000162769 28982 Solute carriers 24682 protein-coding gene gene with protein product 609144 ataxia, posterior column 1, with retinitis pigmentosa AXPC1 NA 10400745, 10648427, 21070897 Standard NM_014053 NM_014053 NA Approved FLVCR, MFSD7B, PCA uc001hjt.3 Q9Y5Y0 OTTHUMG00000036924 ENST00000366971.4:c.1307+19T>A chr1.hg19:g.213061362T>A NA Q1HE16|Q86XY9|Q9NVR9 hg19 CCDS1510.1 0.02 3.780955 GTTxAGG COVERED NOVEL FLVCR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000089678.2 1 5.415446 KEEP 0 0 0 18 542 TT 0.999859 0.999859 0 + 7 60 246 0 0 16.230788 118 60 4227 171 ENST00000366971.4 0.056 0.999999 FLVCR1 28982 __UNKNOWN__ __UNKNOWN__ 1 213069305 213069305 __UNKNOWN__ 3'UTR SNP G G A rs41301027 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:213069305G>A ENST00000366971.4 + 0 2539 NM_014053.3 NP_054772.1 Q9Y5Y0 FLVC1_HUMAN feline leukemia virus subgroup C cellular receptor 1 NA NA blood vessel development (GO:0001568)|cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|head morphogenesis (GO:0060323)|heme export (GO:0097037)|heme transport (GO:0015886)|in utero embryonic development (GO:0001701)|mitochondrial transport (GO:0006839)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|regulation of organ growth (GO:0046620)|spleen development (GO:0048536)|transmembrane transport (GO:0055085)|transport (GO:0006810) integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886) heme transporter activity (GO:0015232)|transporter activity (GO:0005215) cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2) 12 OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11) CCCAGACTTTGGTCTTAGAAT 0.353 NA G||| 1424 0.284345 0.1702 0.4914 5008 , , NA 19103 0.4454 NA 0.1879 False NA ,,, NA NA NA 2504 0.2249 NA NA NA Esophageal Squamous(199;2235 2952 19233 26256) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF118637 CCDS1510.1 1q32.3 2014-05-30 ENSG00000162769 ENSG00000162769 28982 Solute carriers 24682 protein-coding gene gene with protein product 609144 ataxia, posterior column 1, with retinitis pigmentosa AXPC1 NA 10400745, 10648427, 21070897 Standard NM_014053 NM_014053 NA Approved FLVCR, MFSD7B, PCA uc001hjt.3 Q9Y5Y0 OTTHUMG00000036924 ENST00000366971.4:c.*673G>A chr1.hg19:g.213069305G>A NA Q1HE16|Q86XY9|Q9NVR9 hg19 CCDS1510.1 0.02 8.569215 TTTxGTC COVERED NOVEL FLVCR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000089678.2 1 8.427266 KEEP 0 0 0 28 980 GG 0.999997 0.999997 0 + 14 60 504 0 0 34.287982 212 60 7995 288 ENST00000366971.4 0.061947 1 FLVCR1 28982 __UNKNOWN__ __UNKNOWN__ 1 213069738 213069738 __UNKNOWN__ 3'UTR SNP C C T rs12567728 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:213069738C>T ENST00000366971.4 + 0 2972 NM_014053.3 NP_054772.1 Q9Y5Y0 FLVC1_HUMAN feline leukemia virus subgroup C cellular receptor 1 NA NA blood vessel development (GO:0001568)|cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|head morphogenesis (GO:0060323)|heme export (GO:0097037)|heme transport (GO:0015886)|in utero embryonic development (GO:0001701)|mitochondrial transport (GO:0006839)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|regulation of organ growth (GO:0046620)|spleen development (GO:0048536)|transmembrane transport (GO:0055085)|transport (GO:0006810) integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886) heme transporter activity (GO:0015232)|transporter activity (GO:0005215) cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2) 12 OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11) ATCAGTGTGCCGGGAGAGTGG 0.408 NA C||| 1423 0.284145 0.1702 0.4914 5008 , , NA 19951 0.4444 NA 0.1879 False NA ,,, NA NA NA 2504 0.2249 NA NA NA Esophageal Squamous(199;2235 2952 19233 26256) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF118637 CCDS1510.1 1q32.3 2014-05-30 ENSG00000162769 ENSG00000162769 28982 Solute carriers 24682 protein-coding gene gene with protein product 609144 ataxia, posterior column 1, with retinitis pigmentosa AXPC1 NA 10400745, 10648427, 21070897 Standard NM_014053 NM_014053 NA Approved FLVCR, MFSD7B, PCA uc001hjt.3 Q9Y5Y0 OTTHUMG00000036924 ENST00000366971.4:c.*1106C>T chr1.hg19:g.213069738C>T NA Q1HE16|Q86XY9|Q9NVR9 hg19 CCDS1510.1 0.02 3.820055 TGCxGGG COVERED NOVEL FLVCR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000089678.2 1 4.799871 KEEP 0 0 0 16 528 CC 0.997832 0.997831 0 + 7 60 252 0 0 16.662376 125 60 4212 173 ENST00000366971.4 0.05303 1 FLVCR1 28982 __UNKNOWN__ __UNKNOWN__ 1 213071341 213071341 __UNKNOWN__ 3'UTR SNP T T C rs1284855 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:213071341T>C ENST00000366971.4 + 0 4575 NM_014053.3 NP_054772.1 Q9Y5Y0 FLVC1_HUMAN feline leukemia virus subgroup C cellular receptor 1 NA NA blood vessel development (GO:0001568)|cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|head morphogenesis (GO:0060323)|heme export (GO:0097037)|heme transport (GO:0015886)|in utero embryonic development (GO:0001701)|mitochondrial transport (GO:0006839)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|regulation of organ growth (GO:0046620)|spleen development (GO:0048536)|transmembrane transport (GO:0055085)|transport (GO:0006810) integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886) heme transporter activity (GO:0015232)|transporter activity (GO:0005215) cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2) 12 OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11) GAATGTGTTATCTAAAGAATT 0.348 NA C||| 2379 0.47504 0.6445 0.5807 5008 , , NA 20580 0.5357 NA 0.3191 False NA ,,, NA NA NA 2504 0.2689 NA NA NA Esophageal Squamous(199;2235 2952 19233 26256) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF118637 CCDS1510.1 1q32.3 2014-05-30 ENSG00000162769 ENSG00000162769 28982 Solute carriers 24682 protein-coding gene gene with protein product 609144 ataxia, posterior column 1, with retinitis pigmentosa AXPC1 NA 10400745, 10648427, 21070897 Standard NM_014053 NM_014053 NA Approved FLVCR, MFSD7B, PCA uc001hjt.3 Q9Y5Y0 OTTHUMG00000036924 ENST00000366971.4:c.*2709T>C chr1.hg19:g.213071341T>C NA Q1HE16|Q86XY9|Q9NVR9 hg19 CCDS1510.1 0.02 6.988877 TTAxCTA COVERED NOVEL FLVCR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000089678.2 1 5.114232 KEEP 0 0 0 17 543 TT 0.999366 0.999366 0 + 8 60 303 0 0 20.152816 160 60 5929 211 ENST00000366971.4 0.047619 1 FLVCR1 28982 __UNKNOWN__ __UNKNOWN__ 1 213071445 213071445 __UNKNOWN__ 3'UTR SNP G G A rs1284854 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:213071445G>A ENST00000366971.4 + 0 4679 NM_014053.3 NP_054772.1 Q9Y5Y0 FLVC1_HUMAN feline leukemia virus subgroup C cellular receptor 1 NA NA blood vessel development (GO:0001568)|cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|head morphogenesis (GO:0060323)|heme export (GO:0097037)|heme transport (GO:0015886)|in utero embryonic development (GO:0001701)|mitochondrial transport (GO:0006839)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|regulation of organ growth (GO:0046620)|spleen development (GO:0048536)|transmembrane transport (GO:0055085)|transport (GO:0006810) integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886) heme transporter activity (GO:0015232)|transporter activity (GO:0005215) cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2) 12 OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11) tctgggcagcgttttcctcat 0.343 NA A||| 2482 0.495607 0.6452 0.6009 5008 , , NA 18829 0.5476 NA 0.3569 False NA ,,, NA NA NA 2504 0.3078 NA NA NA Esophageal Squamous(199;2235 2952 19233 26256) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF118637 CCDS1510.1 1q32.3 2014-05-30 ENSG00000162769 ENSG00000162769 28982 Solute carriers 24682 protein-coding gene gene with protein product 609144 ataxia, posterior column 1, with retinitis pigmentosa AXPC1 NA 10400745, 10648427, 21070897 Standard NM_014053 NM_014053 NA Approved FLVCR, MFSD7B, PCA uc001hjt.3 Q9Y5Y0 OTTHUMG00000036924 ENST00000366971.4:c.*2813G>A chr1.hg19:g.213071445G>A NA Q1HE16|Q86XY9|Q9NVR9 hg19 CCDS1510.1 0.02 6.607069 AGCxTTT COVERED NOVEL FLVCR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000089678.2 2 3.912848 KEEP 0 0 0 13 464 GG 0.994391 0.994391 0 + 10 60 369 0 0 25.265612 156 60 5517 206 ENST00000366971.4 0.060241 1 FLVCR1 28982 __UNKNOWN__ __UNKNOWN__ 1 213071600 213071600 __UNKNOWN__ 3'UTR SNP G G A rs10902 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:213071600G>A ENST00000366971.4 + 0 4834 NM_014053.3 NP_054772.1 Q9Y5Y0 FLVC1_HUMAN feline leukemia virus subgroup C cellular receptor 1 NA NA blood vessel development (GO:0001568)|cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|head morphogenesis (GO:0060323)|heme export (GO:0097037)|heme transport (GO:0015886)|in utero embryonic development (GO:0001701)|mitochondrial transport (GO:0006839)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|regulation of organ growth (GO:0046620)|spleen development (GO:0048536)|transmembrane transport (GO:0055085)|transport (GO:0006810) integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886) heme transporter activity (GO:0015232)|transporter activity (GO:0005215) cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2) 12 OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11) ATAAACAAATGTGATTGCTAC 0.348 NA G||| 1424 0.284345 0.1702 0.4914 5008 , , NA 18138 0.4454 NA 0.1879 False NA ,,, NA NA NA 2504 0.2249 NA NA NA Esophageal Squamous(199;2235 2952 19233 26256) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF118637 CCDS1510.1 1q32.3 2014-05-30 ENSG00000162769 ENSG00000162769 28982 Solute carriers 24682 protein-coding gene gene with protein product 609144 ataxia, posterior column 1, with retinitis pigmentosa AXPC1 NA 10400745, 10648427, 21070897 Standard NM_014053 NM_014053 NA Approved FLVCR, MFSD7B, PCA uc001hjt.3 Q9Y5Y0 OTTHUMG00000036924 ENST00000366971.4:c.*2968G>A chr1.hg19:g.213071600G>A NA Q1HE16|Q86XY9|Q9NVR9 hg19 CCDS1510.1 0.02 8.979892 AATxTGA COVERED NOVEL FLVCR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000089678.2 0 4.448518 KEEP 0 1 29 25 869 GG 0.999957 0.999957 0 + 12 60 446 0 0 30.565417 190 60 7226 260 ENST00000366971.4 0.059406 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 213189210 213189210 __UNKNOWN__ IGR SNP G G T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:213189210G>T NA NA ANGEL2 (42 upstream) : RPS6KC1 (35378 downstream) NA NA NA GTCCCTGAATGCCTTAACCCG 0.567 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.213189210G>T NA hg19 0.02 6.436117 AATxCCT COVERED NOVEL 0 2 2.979521 KEEP 0 6 102 48 1067 GG 1 1 0 41 60 561 0 0 30.666175 185 60 3992 297 0.181416 1 SMYD2 56950 __UNKNOWN__ __UNKNOWN__ 1 214505596 214505596 __UNKNOWN__ Intron SNP C C T rs1874804 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:214505596C>T ENST00000366957.5 + 10 1134 SMYD2_ENST00000415093.2_Intron|SMYD2_ENST00000491455.1_3'UTR NM_020197.2 NP_064582.2 Q9NRG4 SMYD2_HUMAN SET and MYND domain containing 2 NA NA negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043516)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634) histone methyltransferase activity (H3-K36 specific) (GO:0046975)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|RNA polymerase II core binding (GO:0000993) breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144) AGAATGTATACGATAGTGTCA 0.507 NA OREG0012979 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) C||| 1549 0.309305 0.3048 0.2464 5008 , , NA 20927 0.4772 NA 0.2475 False NA ,,, NA NA NA 2504 0.2505 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF226053 CCDS31022.1 1q32.3 2011-07-01 ENSG00000143499 ENSG00000143499 56950 Zinc fingers, MYND-type, Chromatin-modifying enzymes / K-methyltransferases 20982 protein-coding gene gene with protein product 610663 NA Standard NM_020197 NM_020197 NA Approved HSKM-B, ZMYND14, KMT3C uc021pix.1 Q9NRG4 OTTHUMG00000037066 ENST00000366957.5:c.1112+61C>T chr1.hg19:g.214505596C>T 2221 B2R9P9|I6L9H7|Q4V765|Q5VSH9|Q96AI4 hg19 CCDS31022.1 0.02 4.246121 ATAxGAT COVERED NOVEL SMYD2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000089998.1 0 4.513899 KEEP 0 0 0 15 494 CC 0.99649 0.996477 0 + 6 60 226 0 0 15.451832 100 60 3343 141 ENST00000366957.5 0.056604 0.999987 PTPN14 5784 __UNKNOWN__ __UNKNOWN__ 1 214549501 214549501 __UNKNOWN__ Intron SNP C C T rs1125452 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:214549501C>T ENST00000366956.5 - 15 3102 PTPN14_ENST00000543945.1_Intron NM_005401.4 NP_005392.2 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 14 NA NA lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634) protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712) NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) TTCTTCTCCCCGCATTTTTCC 0.443 NA C||| 756 0.150958 0.1989 0.0663 5008 , , NA 19701 0.1885 NA 0.0875 False NA ,,, NA NA NA 2504 0.1728 NA NA NA Colon(92;557 1424 24372 34121 40073) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X82676 CCDS1514.1 1q32.2 2011-06-09 ENSG00000152104 ENSG00000152104 5784 Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor 9647 protein-coding gene gene with protein product 603155 NA 7733990 Standard NM_005401 NM_005401 NA Approved PEZ uc001hkk.2 Q15678 OTTHUMG00000037039 ENST00000366956.5:c.2907+60G>A chr1.hg19:g.214549501C>T NA Q5VSI0 hg19 CCDS1514.1 0.02 -0.429868 CCCxGCA COVERED NOVEL PTPN14-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000089918.2 0 2.407533 KEEP 0 0 0 8 261 CC 0.99257 0.9474 0 - 4 60 148 0 0 10.693073 45 60 1606 58 ENST00000366956.5 0.081633 0.954491 CENPF 1063 __UNKNOWN__ __UNKNOWN__ 1 214826364 214826364 __UNKNOWN__ Intron SNP G G A rs335523 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:214826364G>A ENST00000366955.3 + 16 8490 CENPF_ENST00000467765.1_Intron NM_016343.3 NP_057427.3 P49454 CENPF_HUMAN centromere protein F, 350/400kDa NA NA cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493) chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922) chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134) NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1) 126 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) TCATGATTTCGAATGGTTTAT 0.289 NA G||| 2696 0.538339 0.2852 0.5504 5008 , , NA 18514 0.8393 NA 0.4503 False NA ,,, NA NA NA 2504 0.6524 NA NA NA Colon(80;575 1284 11000 14801 43496) NA 0 G 1398,3006 437.6+/-345.0 220,958,1024 54 57 56 -5.1 0 1 dbSNP_79 56 3855,4743 537.6+/-383.2 845,2165,1289 no intron CENPF NM_016343.3 1065,3123,2313 AA,AG,GG 44.836,31.7439,40.4015 214826364 5253,7749 2202 4299 6501 SO:0001627 intron_variant U30872 CCDS31023.1 1q41 2013-11-05 2013-01-17 ENSG00000117724 ENSG00000117724 1063 1857 protein-coding gene gene with protein product mitosin 600236 centromere protein F, 350/400kDa (mitosin) NA 7904902, 7851898 Standard NM_016343 NM_016343 NA Approved hcp-1 uc001hkm.3 P49454 OTTHUMG00000036955 ENST00000366955.3:c.8322+32G>A chr1.hg19:g.214826364G>A NA Q13171|Q13246|Q5VVM7 hg19 CCDS31023.1 0.02 2.00677 TTCxAAT COVERED NOVEL CENPF-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000089749.1 0 4.514291 KEEP 0 0 0 15 495 GG 0.99649 0.996295 0 + 6 60 225 0 0 15.821468 83 60 3081 127 ENST00000366955.3 0.067416 0.999804 USH2A 7399 __UNKNOWN__ __UNKNOWN__ 1 215848587 215848587 __UNKNOWN__ Silent SNP T T C rs2797234 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:215848587T>C ENST00000307340.3 - 63 13052 c.12666A>G c.(12664-12666)acA>acG p.T4222T USH2A_ENST00000366943.2_Silent_p.T4222T NM_206933.2 NP_996816 O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 4222 Fibronectin type-III 27. {ECO:0000255|PROSITE-ProRule:PRU00316}. NA hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601) apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171) collagen binding (GO:0005518)|myosin binding (GO:0017022) p.T4222T(1) NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TATACATAAATGTATTCCTTT 0.413 NA HNSCC(13;0.011) T||| 1518 0.303115 0.1793 0.4539 5008 , , NA 20174 0.3155 NA 0.3738 False NA ,,, NA NA NA 2504 0.2781 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) T 983,3423 369.8+/-319.3 127,729,1347 114 112 113 http://www.ncbi.nlm.nih.gov/sites/varvu?gene 12666 -0.2 0 1 dbSNP_100 113 3357,5243 498.4+/-374.7 670,2017,1613 no coding-synonymous USH2A NM_206933.2 797,2746,2960 CC,CT,TT 39.0349,22.3105,33.3692 4222/5203 215848587 4340,8666 2203 4300 6503 SO:0001819 synonymous_variant AF055580 CCDS1516.1, CCDS31025.1 1q41 2013-02-11 ENSG00000042781 ENSG00000042781 7399 Fibronectin type III domain containing 12601 protein-coding gene gene with protein product usherin 608400 USH2 NA 9624053, 10729113 Standard NM_007123 NM_007123 NA Approved RP39 uc001hku.1 O75445 OTTHUMG00000037079 ENST00000307340.3:c.12666A>G chr1.hg19:g.215848587T>C NA Q5VVM9|Q6S362|Q9NS27 hg19 CCDS31025.1 0.02 21.934964 AAAxGTA COVERED NOVEL USH2A-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000128138.1 2 12.033522 KEEP 0 0 0 40 1195 TT 1 1 0 - 28 60 989 0 0 65.050211 487 60 17906 623 ENST00000307340.3 0.054369 1 USH2A 7399 __UNKNOWN__ __UNKNOWN__ 1 215901299 215901299 __UNKNOWN__ Intron SNP T T C rs78380529 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:215901299T>C ENST00000307340.3 - 61 12453 USH2A_ENST00000366943.2_Intron NM_206933.2 NP_996816 O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) NA NA hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601) apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171) collagen binding (GO:0005518)|myosin binding (GO:0017022) NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) AAATGAGAAGTTGGACAAGAA 0.363 NA HNSCC(13;0.011) T||| 206 0.0411342 0.0008 0.1095 5008 , , NA 17403 0.0704 NA 0.005 False NA ,,, NA NA NA 2504 0.0542 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF055580 CCDS1516.1, CCDS31025.1 1q41 2013-02-11 ENSG00000042781 ENSG00000042781 7399 Fibronectin type III domain containing 12601 protein-coding gene gene with protein product usherin 608400 USH2 NA 9624053, 10729113 Standard NM_007123 NM_007123 NA Approved RP39 uc001hku.1 O75445 OTTHUMG00000037079 ENST00000307340.3:c.12066+72A>G chr1.hg19:g.215901299T>C NA Q5VVM9|Q6S362|Q9NS27 hg19 CCDS31025.1 0.02 4.480738 AAGxTGG COVERED NOVEL USH2A-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000128138.1 0 3.910383 KEEP 0 0 0 13 384 TT 0.994391 0.994364 0 - 6 60 222 0 0 15.15518 96 60 3351 126 ENST00000307340.3 0.058824 0.999973 ESRRG 2104 __UNKNOWN__ __UNKNOWN__ 1 216880662 216880662 __UNKNOWN__ Intron SNP G G A rs11572672 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:216880662G>A ENST00000366937.1 - 2 338 ESRRG_ENST00000493603.1_Intron|ESRRG_ENST00000391890.3_Intron|ESRRG_ENST00000359162.2_Intron|ESRRG_ENST00000487276.1_Intron|ESRRG_ENST00000366938.2_Intron|ESRRG_ENST00000360012.3_Intron|ESRRG_ENST00000463665.1_Intron|ESRRG_ENST00000408911.3_Intron|ESRRG_ENST00000361395.2_Intron|ESRRG_ENST00000361525.3_Intron|ESRRG_ENST00000366940.2_Intron|ESRRG_ENST00000493748.1_Intron NM_001243518.1 NP_001230447.1 P62508 ERR3_HUMAN estrogen-related receptor gamma NA NA gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367) nucleoplasm (GO:0005654) AF-2 domain binding (GO:0050682)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270) endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713) Diethylstilbestrol(DB00255) TGGCAACTTTGGTGATCAAGT 0.353 NA G||| 764 0.152556 0.0893 0.1167 5008 , , NA 17675 0.2262 NA 0.1571 False NA ,,, NA NA NA 2504 0.183 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF058291 CCDS1517.1, CCDS41468.1, CCDS58060.1, CCDS58061.1 1q41 2014-02-18 ENSG00000196482 ENSG00000196482 2104 Nuclear hormone receptors 3474 protein-coding gene gene with protein product 602969 NA 9676434, 10072763 Standard NM_206595 NM_001243505 NA Approved NR3B3 uc001hkw.2 P62508 OTTHUMG00000037025 ENST00000366937.1:c.71+38C>T chr1.hg19:g.216880662G>A NA A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4 hg19 CCDS58061.1 0.02 28.942301 TTTxGTG COVERED NOVEL ESRRG-006 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000089881.4 3 7.861534 KEEP 0 1 34 38 1354 GG 1 1 0 - 23 60 818 0 0 48.778333 683 60 26109 830 ENST00000366937.1 0.032578 1 SPATA17 128153 __UNKNOWN__ __UNKNOWN__ 1 217947738 217947738 __UNKNOWN__ Silent SNP G G A rs6604561 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:217947738G>A ENST00000366933.4 + 7 637 c.582G>A c.(580-582)caG>caA p.Q194Q NM_138796.2 NP_620151.1 Q96L03 SPT17_HUMAN spermatogenesis associated 17 194 NA cytoplasm (GO:0005737) endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117) TGCAATTACAGAAGGCAAAGC 0.413 NA A||| 3640 0.726837 0.6861 0.6801 5008 , , NA 15725 0.7292 NA 0.8101 False NA ,,, NA NA NA 2504 0.727 NA NA NA NA 0 A 3132,1274 434.3+/-343.9 1097,938,168 102 97 99 582 2.5 0.3 1 dbSNP_116 99 6872,1728 315.7+/-312.4 2756,1360,184 no coding-synonymous SPATA17 NM_138796.2 3853,2298,352 AA,AG,GG 20.093,28.9151,23.0817 194/362 217947738 10004,3002 2203 4300 6503 SO:0001819 synonymous_variant AK098591 CCDS1519.1 1q41 2008-02-05 ENSG00000162814 ENSG00000162814 128153 25184 protein-coding gene gene with protein product IQ motif containing H 611032 NA 16395525 Standard NM_138796 NM_138796 NA Approved IQCH uc001hlh.1 Q96L03 OTTHUMG00000037875 ENST00000366933.4:c.582G>A chr1.hg19:g.217947738G>A NA A5D6N2 hg19 CCDS1519.1 0.02 10.226024 ACAxAAG COVERED NOVEL SPATA17-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000092433.2 0 10.534741 KEEP 0 0 0 35 1273 GG 0.999999 0.999999 0 + 8 60 296 0 0 17.429079 290 60 11253 428 ENST00000366933.4 0.026846 1 RRP15 51018 __UNKNOWN__ __UNKNOWN__ 1 218504703 218504703 __UNKNOWN__ 3'UTR SNP A A C rs77109127 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:218504703A>C ENST00000366932.3 + 0 1149 NM_016052.3 NP_057136.2 Q9Y3B9 RRP15_HUMAN ribosomal RNA processing 15 homolog (S. cerevisiae) NA NA mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634) ACBD6/RRP15(2) NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1) 14 all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248) TGCCAGGATCATATTGGTCAT 0.303 NA A||| 146 0.0291534 0.0174 0.0173 5008 , , NA 13886 0.0675 NA 0.0378 False NA ,,, NA NA NA 2504 0.0051 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS1520.2 1q41 2008-02-05 ENSG00000067533 ENSG00000067533 51018 24255 protein-coding gene gene with protein product 611193 KIAA0507 KIAA0507 NA 15769876 Standard NM_016052 NM_016052 NA Approved CGI-115 uc001hlj.3 Q9Y3B9 OTTHUMG00000039494 ENST00000366932.3:c.*270A>C chr1.hg19:g.218504703A>C NA hg19 CCDS1520.2 0.02 7.241516 ATCxTAT COVERED NOVEL RRP15-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000095284.1 1 12.337319 KEEP 0 0 0 41 1290 AA 1 1 0 + 7 60 267 0 0 17.52026 155 60 5770 252 ENST00000366932.3 0.04321 1 RRP15 51018 __UNKNOWN__ __UNKNOWN__ 1 218509829 218509829 __UNKNOWN__ 3'UTR SNP C C G rs3795410 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:218509829C>G ENST00000366932.3 + 0 6275 NM_016052.3 NP_057136.2 Q9Y3B9 RRP15_HUMAN ribosomal RNA processing 15 homolog (S. cerevisiae) NA NA mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634) ACBD6/RRP15(2) NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1) 14 all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248) AGCTGTGTCCCTATGCGTGGG 0.458 NA G||| 773 0.154353 0.4629 0.0634 5008 , , NA 19445 0.0685 NA 0.0427 False NA ,,, NA NA NA 2504 0.0051 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS1520.2 1q41 2008-02-05 ENSG00000067533 ENSG00000067533 51018 24255 protein-coding gene gene with protein product 611193 KIAA0507 KIAA0507 NA 15769876 Standard NM_016052 NM_016052 NA Approved CGI-115 uc001hlj.3 Q9Y3B9 OTTHUMG00000039494 ENST00000366932.3:c.*5396C>G chr1.hg19:g.218509829C>G NA hg19 CCDS1520.2 0.02 7.464886 TCCxTAT COVERED NOVEL RRP15-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000095284.1 1 10.233411 KEEP 0 0 0 34 1227 CC 0.999998 0.999998 0 + 9 60 291 0 0 16.970971 218 60 8230 310 ENST00000366932.3 0.039648 1 TGFB2 7042 __UNKNOWN__ __UNKNOWN__ 1 218614905 218614905 __UNKNOWN__ 3'UTR SNP A A T rs900 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:218614905A>T ENST00000366930.4 + 0 1913 TGFB2_ENST00000479322.1_3'UTR|TGFB2_ENST00000366929.4_3'UTR NM_003238.3 NP_003229.1 P61812 TGFB2_HUMAN transforming growth factor, beta 2 NA NA activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cardioblast differentiation (GO:0010002)|cartilage condensation (GO:0001502)|catagen (GO:0042637)|cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|collagen fibril organization (GO:0030199)|dopamine biosynthetic process (GO:0042416)|embryo development (GO:0009790)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|face morphogenesis (GO:0060325)|generation of neurons (GO:0048699)|glial cell migration (GO:0008347)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hemopoiesis (GO:0030097)|menstrual cycle phase (GO:0022601)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune response (GO:0050777)|negative regulation of macrophage cytokine production (GO:0010936)|neuron development (GO:0048666)|neuron fate commitment (GO:0048663)|neutrophil chemotaxis (GO:0030593)|odontogenesis (GO:0042476)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activation-induced cell death of T cells (GO:0070237)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of catagen (GO:0051795)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of gene expression (GO:0010628)|positive regulation of heart contraction (GO:0045823)|positive regulation of immune response (GO:0050778)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of ossification (GO:0045778)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein secretion (GO:0050714)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of transforming growth factor beta2 production (GO:0032909)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to progesterone (GO:0032570)|response to wounding (GO:0009611)|salivary gland morphogenesis (GO:0007435)|signal transduction by phosphorylation (GO:0023014)|SMAD protein import into nucleus (GO:0007184)|somatic stem cell division (GO:0048103)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060) axon (GO:0030424)|endosome (GO:0005768)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|platelet alpha granule lumen (GO:0031093) beta-amyloid binding (GO:0001540)|cytokine activity (GO:0005125)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor binding (GO:0005160)|type II transforming growth factor beta receptor binding (GO:0005114) breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776) ACACAAAAAAAGTTGAAGGCC 0.313 NA A||| 2098 0.41893 0.3472 0.487 5008 , , NA 18183 0.6865 NA 0.2803 False NA ,,, NA NA NA 2504 0.3344 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M19154 CCDS1521.1, CCDS44318.1 1q41 2014-01-30 ENSG00000092969 ENSG00000092969 7042 Endogenous ligands 11768 protein-coding gene gene with protein product prepro-transforming growth factor beta-2 190220 NA Standard NM_003238 NM_003238 NA Approved uc001hln.3 P61812 OTTHUMG00000039521 ENST00000366930.4:c.*201A>T chr1.hg19:g.218614905A>T NA B4DKC5|P08112|Q15579|Q15581|Q4VAV9 hg19 CCDS1521.1 0.02 4.368874 AAAxGTT COVERED NOVEL TGFB2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000095359.2 5 14.743644 KEEP 0 0 0 49 1531 AA 1 1 0 + 15 60 540 0 0 40.038184 134 60 4955 241 ENST00000366930.4 0.100671 1 TGFB2 7042 __UNKNOWN__ __UNKNOWN__ 1 218615451 218615451 __UNKNOWN__ 3'UTR SNP A A C rs991967 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:218615451A>C ENST00000366930.4 + 0 2459 TGFB2_ENST00000479322.1_3'UTR|TGFB2_ENST00000366929.4_3'UTR NM_003238.3 NP_003229.1 P61812 TGFB2_HUMAN transforming growth factor, beta 2 NA NA activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cardioblast differentiation (GO:0010002)|cartilage condensation (GO:0001502)|catagen (GO:0042637)|cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|collagen fibril organization (GO:0030199)|dopamine biosynthetic process (GO:0042416)|embryo development (GO:0009790)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|face morphogenesis (GO:0060325)|generation of neurons (GO:0048699)|glial cell migration (GO:0008347)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hemopoiesis (GO:0030097)|menstrual cycle phase (GO:0022601)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune response (GO:0050777)|negative regulation of macrophage cytokine production (GO:0010936)|neuron development (GO:0048666)|neuron fate commitment (GO:0048663)|neutrophil chemotaxis (GO:0030593)|odontogenesis (GO:0042476)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activation-induced cell death of T cells (GO:0070237)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of catagen (GO:0051795)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of gene expression (GO:0010628)|positive regulation of heart contraction (GO:0045823)|positive regulation of immune response (GO:0050778)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of ossification (GO:0045778)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein secretion (GO:0050714)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of transforming growth factor beta2 production (GO:0032909)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to progesterone (GO:0032570)|response to wounding (GO:0009611)|salivary gland morphogenesis (GO:0007435)|signal transduction by phosphorylation (GO:0023014)|SMAD protein import into nucleus (GO:0007184)|somatic stem cell division (GO:0048103)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060) axon (GO:0030424)|endosome (GO:0005768)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|platelet alpha granule lumen (GO:0031093) beta-amyloid binding (GO:0001540)|cytokine activity (GO:0005125)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor binding (GO:0005160)|type II transforming growth factor beta receptor binding (GO:0005114) breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776) AACTAAAAAGACTGTTAATAA 0.308 NA C||| 2353 0.469848 0.4917 0.5014 5008 , , NA 16297 0.7024 NA 0.2883 False NA ,,, NA NA NA 2504 0.365 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M19154 CCDS1521.1, CCDS44318.1 1q41 2014-01-30 ENSG00000092969 ENSG00000092969 7042 Endogenous ligands 11768 protein-coding gene gene with protein product prepro-transforming growth factor beta-2 190220 NA Standard NM_003238 NM_003238 NA Approved uc001hln.3 P61812 OTTHUMG00000039521 ENST00000366930.4:c.*747A>C chr1.hg19:g.218615451A>C NA B4DKC5|P08112|Q15579|Q15581|Q4VAV9 hg19 CCDS1521.1 0.02 2.271401 AAGxCTG COVERED NOVEL TGFB2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000095359.2 0 13.235173 KEEP 0 0 0 44 1350 AA 1 0.999895 0 + 6 60 217 0 0 14.936948 86 60 3080 178 ENST00000366930.4 0.065217 0.999895 TGFB2 7042 __UNKNOWN__ __UNKNOWN__ 1 218616328 218616328 __UNKNOWN__ 3'UTR SNP T T A rs3737977 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:218616328T>A ENST00000366930.4 + 0 3336 TGFB2_ENST00000366929.4_3'UTR NM_003238.3 NP_003229.1 P61812 TGFB2_HUMAN transforming growth factor, beta 2 NA NA activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cardioblast differentiation (GO:0010002)|cartilage condensation (GO:0001502)|catagen (GO:0042637)|cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|collagen fibril organization (GO:0030199)|dopamine biosynthetic process (GO:0042416)|embryo development (GO:0009790)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|face morphogenesis (GO:0060325)|generation of neurons (GO:0048699)|glial cell migration (GO:0008347)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hemopoiesis (GO:0030097)|menstrual cycle phase (GO:0022601)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune response (GO:0050777)|negative regulation of macrophage cytokine production (GO:0010936)|neuron development (GO:0048666)|neuron fate commitment (GO:0048663)|neutrophil chemotaxis (GO:0030593)|odontogenesis (GO:0042476)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activation-induced cell death of T cells (GO:0070237)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of catagen (GO:0051795)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of gene expression (GO:0010628)|positive regulation of heart contraction (GO:0045823)|positive regulation of immune response (GO:0050778)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of ossification (GO:0045778)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein secretion (GO:0050714)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of transforming growth factor beta2 production (GO:0032909)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to progesterone (GO:0032570)|response to wounding (GO:0009611)|salivary gland morphogenesis (GO:0007435)|signal transduction by phosphorylation (GO:0023014)|SMAD protein import into nucleus (GO:0007184)|somatic stem cell division (GO:0048103)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060) axon (GO:0030424)|endosome (GO:0005768)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|platelet alpha granule lumen (GO:0031093) beta-amyloid binding (GO:0001540)|cytokine activity (GO:0005125)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor binding (GO:0005160)|type II transforming growth factor beta receptor binding (GO:0005114) breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776) TTTTTAATATTCAGGGGGAAA 0.294 NA T||| 636 0.126997 0.1997 0.1657 5008 , , NA 15807 0.13 NA 0.0636 False NA ,,, NA NA NA 2504 0.0634 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M19154 CCDS1521.1, CCDS44318.1 1q41 2014-01-30 ENSG00000092969 ENSG00000092969 7042 Endogenous ligands 11768 protein-coding gene gene with protein product prepro-transforming growth factor beta-2 190220 NA Standard NM_003238 NM_003238 NA Approved uc001hln.3 P61812 OTTHUMG00000039521 ENST00000366930.4:c.*1624T>A chr1.hg19:g.218616328T>A NA B4DKC5|P08112|Q15579|Q15581|Q4VAV9 hg19 CCDS1521.1 0.02 10.434512 TATxCAG COVERED NOVEL TGFB2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000095359.2 2 21.059805 KEEP 0 0 0 70 2142 TT 1 1 0 + 11 60 402 0 0 25.02544 286 60 10351 453 ENST00000366930.4 0.037037 1 TGFB2 7042 __UNKNOWN__ __UNKNOWN__ 1 218617135 218617135 __UNKNOWN__ 3'UTR SNP C C G rs1046017 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:218617135C>G ENST00000366930.4 + 0 4143 TGFB2_ENST00000366929.4_3'UTR NM_003238.3 NP_003229.1 P61812 TGFB2_HUMAN transforming growth factor, beta 2 NA NA activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cardioblast differentiation (GO:0010002)|cartilage condensation (GO:0001502)|catagen (GO:0042637)|cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|collagen fibril organization (GO:0030199)|dopamine biosynthetic process (GO:0042416)|embryo development (GO:0009790)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|face morphogenesis (GO:0060325)|generation of neurons (GO:0048699)|glial cell migration (GO:0008347)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hemopoiesis (GO:0030097)|menstrual cycle phase (GO:0022601)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune response (GO:0050777)|negative regulation of macrophage cytokine production (GO:0010936)|neuron development (GO:0048666)|neuron fate commitment (GO:0048663)|neutrophil chemotaxis (GO:0030593)|odontogenesis (GO:0042476)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activation-induced cell death of T cells (GO:0070237)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of catagen (GO:0051795)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of gene expression (GO:0010628)|positive regulation of heart contraction (GO:0045823)|positive regulation of immune response (GO:0050778)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of ossification (GO:0045778)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein secretion (GO:0050714)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of transforming growth factor beta2 production (GO:0032909)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to progesterone (GO:0032570)|response to wounding (GO:0009611)|salivary gland morphogenesis (GO:0007435)|signal transduction by phosphorylation (GO:0023014)|SMAD protein import into nucleus (GO:0007184)|somatic stem cell division (GO:0048103)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060) axon (GO:0030424)|endosome (GO:0005768)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|platelet alpha granule lumen (GO:0031093) beta-amyloid binding (GO:0001540)|cytokine activity (GO:0005125)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor binding (GO:0005160)|type II transforming growth factor beta receptor binding (GO:0005114) breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776) GTGGAGGTGGCAAGGAAGGGG 0.378 NA G||| 2352 0.469649 0.4909 0.5014 5008 , , NA 16082 0.7024 NA 0.2883 False NA ,,, NA NA NA 2504 0.365 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M19154 CCDS1521.1, CCDS44318.1 1q41 2014-01-30 ENSG00000092969 ENSG00000092969 7042 Endogenous ligands 11768 protein-coding gene gene with protein product prepro-transforming growth factor beta-2 190220 NA Standard NM_003238 NM_003238 NA Approved uc001hln.3 P61812 OTTHUMG00000039521 ENST00000366930.4:c.*2431C>G chr1.hg19:g.218617135C>G NA B4DKC5|P08112|Q15579|Q15581|Q4VAV9 hg19 CCDS1521.1 0.02 2.377628 TGGxAAG COVERED NOVEL TGFB2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000095359.2 2 4.213614 KEEP 0 0 0 14 488 CC 0.995343 0.994664 0 + 7 60 262 0 0 19.197916 74 70 2746 105 ENST00000366930.4 0.08642 0.999317 TGFB2 7042 __UNKNOWN__ __UNKNOWN__ 1 218617543 218617543 __UNKNOWN__ 3'UTR SNP G G A rs6704255 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:218617543G>A ENST00000366930.4 + 0 4551 TGFB2_ENST00000366929.4_3'UTR NM_003238.3 NP_003229.1 P61812 TGFB2_HUMAN transforming growth factor, beta 2 NA NA activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cardioblast differentiation (GO:0010002)|cartilage condensation (GO:0001502)|catagen (GO:0042637)|cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|collagen fibril organization (GO:0030199)|dopamine biosynthetic process (GO:0042416)|embryo development (GO:0009790)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|face morphogenesis (GO:0060325)|generation of neurons (GO:0048699)|glial cell migration (GO:0008347)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hemopoiesis (GO:0030097)|menstrual cycle phase (GO:0022601)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune response (GO:0050777)|negative regulation of macrophage cytokine production (GO:0010936)|neuron development (GO:0048666)|neuron fate commitment (GO:0048663)|neutrophil chemotaxis (GO:0030593)|odontogenesis (GO:0042476)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activation-induced cell death of T cells (GO:0070237)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of catagen (GO:0051795)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of gene expression (GO:0010628)|positive regulation of heart contraction (GO:0045823)|positive regulation of immune response (GO:0050778)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of ossification (GO:0045778)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein secretion (GO:0050714)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of transforming growth factor beta2 production (GO:0032909)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to progesterone (GO:0032570)|response to wounding (GO:0009611)|salivary gland morphogenesis (GO:0007435)|signal transduction by phosphorylation (GO:0023014)|SMAD protein import into nucleus (GO:0007184)|somatic stem cell division (GO:0048103)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060) axon (GO:0030424)|endosome (GO:0005768)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|platelet alpha granule lumen (GO:0031093) beta-amyloid binding (GO:0001540)|cytokine activity (GO:0005125)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor binding (GO:0005160)|type II transforming growth factor beta receptor binding (GO:0005114) breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776) TCCCTGTGCCGTCTTTTTATT 0.408 NA G||| 2223 0.44389 0.4077 0.4942 5008 , , NA 19302 0.6885 NA 0.2883 False NA ,,, NA NA NA 2504 0.365 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M19154 CCDS1521.1, CCDS44318.1 1q41 2014-01-30 ENSG00000092969 ENSG00000092969 7042 Endogenous ligands 11768 protein-coding gene gene with protein product prepro-transforming growth factor beta-2 190220 NA Standard NM_003238 NM_003238 NA Approved uc001hln.3 P61812 OTTHUMG00000039521 ENST00000366930.4:c.*2839G>A chr1.hg19:g.218617543G>A NA B4DKC5|P08112|Q15579|Q15581|Q4VAV9 hg19 CCDS1521.1 0.02 5.773404 GCCxTCT COVERED NOVEL TGFB2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000095359.2 6 10.232048 KEEP 0 0 0 34 1139 GG 0.999998 0.999998 0 + 9 60 314 0 0 19.910536 184 60 6341 249 ENST00000366930.4 0.046632 1 TGFB2 7042 __UNKNOWN__ __UNKNOWN__ 1 218617900 218617900 __UNKNOWN__ 3'UTR SNP C C T rs6683598 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:218617900C>T ENST00000366930.4 + 0 4908 TGFB2_ENST00000366929.4_3'UTR NM_003238.3 NP_003229.1 P61812 TGFB2_HUMAN transforming growth factor, beta 2 NA NA activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cardioblast differentiation (GO:0010002)|cartilage condensation (GO:0001502)|catagen (GO:0042637)|cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|collagen fibril organization (GO:0030199)|dopamine biosynthetic process (GO:0042416)|embryo development (GO:0009790)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|face morphogenesis (GO:0060325)|generation of neurons (GO:0048699)|glial cell migration (GO:0008347)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hemopoiesis (GO:0030097)|menstrual cycle phase (GO:0022601)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune response (GO:0050777)|negative regulation of macrophage cytokine production (GO:0010936)|neuron development (GO:0048666)|neuron fate commitment (GO:0048663)|neutrophil chemotaxis (GO:0030593)|odontogenesis (GO:0042476)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activation-induced cell death of T cells (GO:0070237)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of catagen (GO:0051795)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of gene expression (GO:0010628)|positive regulation of heart contraction (GO:0045823)|positive regulation of immune response (GO:0050778)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of ossification (GO:0045778)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein secretion (GO:0050714)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of transforming growth factor beta2 production (GO:0032909)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to progesterone (GO:0032570)|response to wounding (GO:0009611)|salivary gland morphogenesis (GO:0007435)|signal transduction by phosphorylation (GO:0023014)|SMAD protein import into nucleus (GO:0007184)|somatic stem cell division (GO:0048103)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060) axon (GO:0030424)|endosome (GO:0005768)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|platelet alpha granule lumen (GO:0031093) beta-amyloid binding (GO:0001540)|cytokine activity (GO:0005125)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor binding (GO:0005160)|type II transforming growth factor beta receptor binding (GO:0005114) breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776) AGACCAGACTCCTCAAACGAG 0.393 NA C||| 2223 0.44389 0.4077 0.4942 5008 , , NA 17953 0.6885 NA 0.2883 False NA ,,, NA NA NA 2504 0.365 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M19154 CCDS1521.1, CCDS44318.1 1q41 2014-01-30 ENSG00000092969 ENSG00000092969 7042 Endogenous ligands 11768 protein-coding gene gene with protein product prepro-transforming growth factor beta-2 190220 NA Standard NM_003238 NM_003238 NA Approved uc001hln.3 P61812 OTTHUMG00000039521 ENST00000366930.4:c.*3196C>T chr1.hg19:g.218617900C>T NA B4DKC5|P08112|Q15579|Q15581|Q4VAV9 hg19 CCDS1521.1 0.02 6.555842 ACTxCTC COVERED NOVEL TGFB2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000095359.2 0 17.757596 KEEP 0 0 0 59 2078 CC 1 1 0 + 11 60 398 0 0 27.302591 161 60 5874 282 ENST00000366930.4 0.063953 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 219706327 219706327 __UNKNOWN__ IGR SNP A A G rs2785986 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:219706327A>G NA NA RP11-95P13.1 (90343 upstream) : RP11-95P13.2 (24206 downstream) NA NA NA AATATATGACATTATAATTAA 0.303 NA A||| 1185 0.236621 0.0416 0.4841 5008 , , NA 17507 0.2421 NA 0.327 False NA ,,, NA NA NA 2504 0.226 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.219706327A>G NA hg19 0.02 5.340236 GACxTTA COVERED NOVEL 0 2 9.929265 KEEP 0 0 0 33 1021 AA 0.999998 0.999998 0 7 60 238 0 0 14.021425 190 60 6903 256 0.035533 1 EPRS 2058 __UNKNOWN__ __UNKNOWN__ 1 220153403 220153403 __UNKNOWN__ Intron SNP G G A rs117101042 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:220153403G>A ENST00000366923.3 - 26 3981 NM_004446.2 NP_004437.2 P07814 SYEP_HUMAN glutamyl-prolyl-tRNA synthetase NA NA cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418) cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529) ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613) breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3) 63 GBM - Glioblastoma multiforme(131;0.0735) L-Proline(DB00172) AGTGACCTACGAATCCTGTGT 0.373 NA G||| 95 0.0189696 0.0045 0.0 5008 , , NA 17648 0.0526 NA 0.002 False NA ,,, NA NA NA 2504 0.0348 NA NA NA NA 0 G 18,4388 25.3+/-52.1 0,18,2185 217 201 207 -3.4 0 1 dbSNP_132 207 10,8590 6.4+/-24.3 0,10,4290 no intron EPRS NM_004446.2 0,28,6475 AA,AG,GG 0.1163,0.4085,0.2153 220153403 28,12978 2203 4300 6503 SO:0001627 intron_variant X54326 CCDS31027.1 1q41 2011-07-01 ENSG00000136628 ENSG00000136628 2058 6.1.1.15, 6.1.1.17 Aminoacyl tRNA synthetases / Class I, Aminoacyl tRNA synthetases / Class II 3418 protein-coding gene gene with protein product glutamate tRNA ligase, proline tRNA ligase 138295 QPRS, QARS NA 1988429 Standard NM_004446 NM_004446 NA Approved EARS, PARS, GLUPRORS uc001hly.1 P07814 OTTHUMG00000037433 ENST00000366923.3:c.3711+23C>T chr1.hg19:g.220153403G>A NA A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73 hg19 CCDS31027.1 0.02 13.376883 TACxAAT COVERED NOVEL EPRS-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000091133.2 1 20.766497 KEEP 0 0 0 69 2355 GG 1 1 0 - 10 60 376 0 0 22.988566 315 70 11082 519 ENST00000366923.3 0.030769 1 EPRS 2058 __UNKNOWN__ __UNKNOWN__ 1 220170238 220170238 __UNKNOWN__ Intron SNP C C T rs41304103 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:220170238C>T ENST00000366923.3 - 18 2811 NM_004446.2 NP_004437.2 P07814 SYEP_HUMAN glutamyl-prolyl-tRNA synthetase NA NA cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418) cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529) ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613) breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3) 63 GBM - Glioblastoma multiforme(131;0.0735) L-Proline(DB00172) TATGAGCAGTCGATGTTTTAT 0.353 NA C||| 192 0.0383387 0.059 0.0115 5008 , , NA 20046 0.0615 NA 0.0099 False NA ,,, NA NA NA 2504 0.0348 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X54326 CCDS31027.1 1q41 2011-07-01 ENSG00000136628 ENSG00000136628 2058 6.1.1.15, 6.1.1.17 Aminoacyl tRNA synthetases / Class I, Aminoacyl tRNA synthetases / Class II 3418 protein-coding gene gene with protein product glutamate tRNA ligase, proline tRNA ligase 138295 QPRS, QARS NA 1988429 Standard NM_004446 NM_004446 NA Approved EARS, PARS, GLUPRORS uc001hly.1 P07814 OTTHUMG00000037433 ENST00000366923.3:c.2541+86G>A chr1.hg19:g.220170238C>T NA A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73 hg19 CCDS31027.1 0.02 5.51329 AGTxGAT COVERED NOVEL EPRS-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000091133.2 1 5.718156 KEEP 0 0 0 19 636 CC 0.99986 0.99986 0 - 9 60 321 0 0 20.466264 191 60 6884 235 ENST00000366923.3 0.045 1 IARS2 55699 __UNKNOWN__ __UNKNOWN__ 1 220298664 220298664 __UNKNOWN__ Missense_Mutation SNP A A G rs78770848 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:220298664A>G ENST00000366922.1 + 13 1841 c.1510A>G c.(1510-1512)Aaa>Gaa p.K504E IARS2_ENST00000302637.5_Missense_Mutation_p.K576E Q9NSE4 SYIM_HUMAN isoleucyl-tRNA synthetase 2, mitochondrial 576 NA gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|tRNA aminoacylation for protein translation (GO:0006418) cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739) aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822) p.K576E(1) NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 51 GBM - Glioblastoma multiforme(131;0.0554) L-Isoleucine(DB00167) ACTTCTTCCAAAAGAAGTCTT 0.378 NA A||| 258 0.0515176 0.0953 0.0173 5008 , , NA 14246 0.0635 NA 0.0109 False NA ,,, NA NA NA 2504 0.046 NA NA NA NA 1 Substitution - Missense(1) stomach(1) A GLU/LYS 325,4081 170.1+/-200.6 9,307,1887 74 71 72 1726 -5.1 0 1 dbSNP_132 72 93,8507 51.9+/-112.3 0,93,4207 yes missense IARS2 NM_018060.3 56 9,400,6094 GG,GA,AA 1.0814,7.3763,3.2139 benign 576/1013 220298664 418,12588 2203 4300 6503 SO:0001583 missense AK022665 CCDS1523.1 1q41 2011-07-01 2007-02-26 ENSG00000067704 ENSG00000067704 55699 6.1.1.5 Aminoacyl tRNA synthetases / Class I 29685 protein-coding gene gene with protein product isoleucine tRNA ligase 2, mitochondrial 612801 NA Standard NM_018060 NM_018060 NA Approved FLJ10326 uc001hmc.3 Q9NSE4 OTTHUMG00000037287 ENST00000366922.1:c.1510A>G chr1.hg19:g.220298664A>G ENSP00000355889:p.Lys504Glu NA B2RPG8|Q1M2P9|Q6PI85|Q7L439|Q86WU9|Q96D91|Q9H9Q8|Q9NW42 hg19 0.02 16.290613 CCAxAAG COVERED 95 0.043498168498168496 57 0.11585365853658537 8 0.022099447513812154 22 0.038461538461538464 8 0.010554089709762533 A 1.824 -0.471547 0.04445 0.073763 0.010814 ENSG00000067704 ENST00000366922;ENST00000302637 T;T 0.40476 1.03;1.03 5.55 -5.08 0.02929 Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1); 1.433680 0.03675 N 0.244582 T 0.00178 0.0005 N 0.01686 -0.76 0.80722 P 0.0 B 0.02656 0.0 B 0.06405 0.002 T 0.15925 -1.0420 9 0.02654 T 1 -32.0943 6.4448 0.21869 0.4149:0.3268:0.2583:0.0 . 576 Q9NSE4 SYIM_HUMAN E 504;576 ENSP00000355889:K504E;ENSP00000303279:K576E ENSP00000303279:K576E K + 1 0 IARS2 218365287 0.000000 0.05858 0.000000 0.03702 0.867000 0.49689 -0.132000 0.10467 -0.896000 0.03915 0.383000 0.25322 AAA NOVEL IARS2-001 KNOWN basic protein_coding NA protein_coding OTTHUMT00000090761.1 3 22.26509 KEEP 0 0 0 74 2301 AA 1 1 0 + 15 60 567 0 0 36.860223 341 60 12353 516 ENST00000366922.1 0.042135 1 RAB3GAP2 25782 __UNKNOWN__ __UNKNOWN__ 1 220323089 220323089 __UNKNOWN__ 3'UTR SNP C C A rs41303053 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:220323089C>A ENST00000358951.2 - 0 5802 NM_012414.3 NP_036546.2 Q9H2M9 RBGPR_HUMAN RAB3 GTPase activating protein subunit 2 (non-catalytic) NA NA establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087) cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234) enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137) breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1) 39 GBM - Glioblastoma multiforme(131;0.0443) ACATCTTAACCATTTATCTTG 0.368 NA C||| 439 0.0876597 0.0923 0.0821 5008 , , NA 17785 0.2004 NA 0.0109 False NA ,,, NA NA NA 2504 0.0481 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB020646 CCDS31028.1 1q41 2014-03-03 ENSG00000118873 ENSG00000118873 25782 17168 protein-coding gene gene with protein product 609275 NA 15696165, 16532399, 24482476 Standard NM_012414 NM_012414 NA Approved RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69 uc010puk.1 Q9H2M9 OTTHUMG00000037139 ENST00000358951.2:c.*1504G>T chr1.hg19:g.220323089C>A NA A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15 hg19 CCDS31028.1 0.02 4.121832 AACxATT COVERED NOVEL RAB3GAP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000090205.2 3 9.0276 KEEP 0 0 0 30 1015 CC 0.999997 0.999997 0 - 6 60 220 0 0 14.055144 137 60 5037 184 ENST00000358951.2 0.041958 1 C1orf115 79762 __UNKNOWN__ __UNKNOWN__ 1 220863371 220863371 __UNKNOWN__ 5'UTR SNP C C G rs416768 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:220863371C>G ENST00000294889.5 + 0 185 NM_024709.4 NP_078985.3 Q9H7X2 CA115_HUMAN chromosome 1 open reading frame 115 NA NA integral component of membrane (GO:0016021) large_intestine(1)|lung(1) 2 GBM - Glioblastoma multiforme(131;0.0273) catgccctccctagcactgag 0.438 NA C||| 854 0.170527 0.2595 0.111 5008 , , NA 19858 0.3075 NA 0.0388 False NA ,,, NA NA NA 2504 0.0869 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AK024208 CCDS1524.1 1q41 2008-02-05 ENSG00000162817 ENSG00000162817 79762 25873 protein-coding gene gene with protein product NA 12477932 Standard NM_024709 NM_024709 NA Approved FLJ14146 uc001hmp.1 Q9H7X2 OTTHUMG00000037361 ENST00000294889.5:c.-374C>G chr1.hg19:g.220863371C>G NA B3KRN3|D3DTB2 hg19 CCDS1524.1 0.02 7.068999 TCCxTAG COVERED NOVEL C1orf115-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000090922.3 1 23.476848 KEEP 0 0 0 78 2812 CC 1 1 0 + 9 60 340 0 0 22.501494 184 60 6957 326 ENST00000294889.5 0.046632 1 MARC2 54996 __UNKNOWN__ __UNKNOWN__ 1 220928469 220928469 __UNKNOWN__ Intron SNP C C T rs191060592 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:220928469C>T ENST00000366913.3 + 2 644 MARC2_ENST00000359316.2_Intron NM_017898.3 NP_060368.2 Q969Z3 MARC2_HUMAN mitochondrial amidoxime reducing component 2 NA NA detoxification of nitrogen compound (GO:0051410)|nitrate metabolic process (GO:0042126)|oxidation-reduction process (GO:0055114) extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisome (GO:0005777) molybdenum ion binding (GO:0030151)|molybdopterin cofactor binding (GO:0043546)|nitrate reductase activity (GO:0008940)|pyridoxal phosphate binding (GO:0030170) NA GCAGGTGTTCCGCTTGGGGGC 0.498 NA c||| 4 0.000798722 0.0008 0.0 5008 , , NA 18305 0.003 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 C 1,4405 2.1+/-5.4 0,1,2202 77 73 74 -0.6 0 1 74 1,8599 1.2+/-3.3 0,1,4299 no intron MOSC2 NM_017898.3 0,2,6501 TT,TC,CC 0.0116,0.0227,0.0154 220928469 2,13004 2203 4300 6503 SO:0001627 intron_variant CCDS1525.1 1q41 2011-11-02 2011-11-02 2011-11-02 ENSG00000117791 ENSG00000117791 54996 26064 protein-coding gene gene with protein product 614127 MOCO sulphurase C-terminal domain containing 2 MOSC2 NA 11886751 Standard NM_017898 NM_017898 NA Approved FLJ20605 uc001hmq.3 Q969Z3 OTTHUMG00000037354 ENST00000366913.3:c.446+7C>T chr1.hg19:g.220928469C>T NA B2D0R5|D3DTB3|Q0JSK7|Q5VT67|Q5VXC7|Q7L317|Q9H066|Q9NWU0 hg19 CCDS1525.1 0.02 4.284685 TTCxGCT COVERED NOVEL MARC2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000090911.1 0 8.125889 KEEP 0 0 0 27 910 CC 0.999988 0.999983 0 + 6 60 218 0 0 14.482672 107 60 3603 174 ENST00000366913.3 0.053097 0.999995 HHIPL2 79802 __UNKNOWN__ __UNKNOWN__ 1 222713503 222713503 __UNKNOWN__ Silent SNP C C G rs3748664 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:222713503C>G ENST00000343410.6 - 4 1357 c.1299G>C c.(1297-1299)acG>acC p.T433T NM_024746.3 NP_079022.2 Q6UWX4 HIPL2_HUMAN HHIP-like 2 433 NA carbohydrate metabolic process (GO:0005975) extracellular region (GO:0005576) oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038) NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 GBM - Glioblastoma multiforme(131;0.0185) GGCCCTGGCGCGTGATGGGGT 0.567 NA C||| 1881 0.375599 0.3434 0.5058 5008 , , NA 17111 0.5089 NA 0.2604 False NA ,,, NA NA NA 2504 0.3078 NA NA NA NA 0 C 1446,2960 466.2+/-354.4 222,1002,979 70 70 70 1299 -11 0 1 dbSNP_107 70 2505,6095 408.3+/-349.4 366,1773,2161 no coding-synonymous HHIPL2 NM_024746.3 588,2775,3140 GG,GC,CC 29.1279,32.8189,30.3783 433/725 222713503 3951,9055 2203 4300 6503 SO:0001819 synonymous_variant BC007638 CCDS1530.2 1q41 2008-02-05 2008-01-16 2008-01-16 ENSG00000143512 ENSG00000143512 79802 25842 protein-coding gene gene with protein product KIAA1822-like KIAA1822L NA 12975309 Standard NM_024746 NM_024746 NA Approved FLJ13840 uc001hnh.1 Q6UWX4 OTTHUMG00000037545 ENST00000343410.6:c.1299G>C chr1.hg19:g.222713503C>G NA Q6GU65|Q96BT4|Q96BU5|Q9H8A0 hg19 CCDS1530.2 0.02 9.269428 GCGxGTG COVERED NOVEL HHIPL2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000091499.2 1 2.378766 KEEP 0 2 69 32 1112 CC 0.999998 0.999998 0 - 10 60 369 0 0 23.896376 216 60 7348 294 ENST00000343410.6 0.044248 1 HHIPL2 79802 __UNKNOWN__ __UNKNOWN__ 1 222717132 222717132 __UNKNOWN__ Missense_Mutation SNP C C T rs3811466 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:222717132C>T ENST00000343410.6 - 2 779 c.721G>A c.(721-723)Gtg>Atg p.V241M NM_024746.3 NP_079022.2 Q6UWX4 HIPL2_HUMAN HHIP-like 2 241 NA V -> M (in dbSNP:rs3811466). carbohydrate metabolic process (GO:0005975) extracellular region (GO:0005576) oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038) p.V241M(1) NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 GBM - Glioblastoma multiforme(131;0.0185) TAGACCCACACCACTCCTACC 0.612 NA C||| 493 0.0984425 0.0008 0.2219 5008 , , NA 17314 0.2669 NA 0.003 False NA ,,, NA NA NA 2504 0.0675 NA NA NA NA 1 Substitution - Missense(1) stomach(1) C MET/VAL 21,4385 29.0+/-57.7 0,21,2182 81 73 76 721 5 1 1 dbSNP_107 76 33,8567 22.8+/-68.1 0,33,4267 yes missense HHIPL2 NM_024746.3 21 0,54,6449 TT,TC,CC 0.3837,0.4766,0.4152 probably-damaging 241/725 222717132 54,12952 2203 4300 6503 SO:0001583 missense BC007638 CCDS1530.2 1q41 2008-02-05 2008-01-16 2008-01-16 ENSG00000143512 ENSG00000143512 79802 25842 protein-coding gene gene with protein product KIAA1822-like KIAA1822L NA 12975309 Standard NM_024746 NM_024746 NA Approved FLJ13840 uc001hnh.1 Q6UWX4 OTTHUMG00000037545 ENST00000343410.6:c.721G>A chr1.hg19:g.222717132C>T ENSP00000342118:p.Val241Met NA Q6GU65|Q96BT4|Q96BU5|Q9H8A0 hg19 CCDS1530.2 0.02 16.220796 ACAxCAC COVERED 238 0.10897435897435898 1 0.0020325203252032522 56 0.15469613259668508 178 0.3111888111888112 3 0.00395778364116095 C 17.44 3.388943 0.61956 0.004766 0.003837 ENSG00000143512 ENST00000343410 T 0.17528 2.27 5.04 5.04 0.67666 Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1); 0.062061 0.64402 D 0.000008 T 0.00012 0.0000 M 0.80746 2.51 0.20196 P 0.9999242874 D 0.89917 1.0 D 0.79784 0.993 T 0.28808 -1.0032 9 0.52906 T 0.07 -21.3087 10.1034 0.42519 0.0:0.8692:0.0:0.1308 rs3811466;rs3811466 241 Q6UWX4 HIPL2_HUMAN M 241 ENSP00000342118:V241M ENSP00000342118:V241M V - 1 0 HHIPL2 220783755 0.942000 0.31987 1.000000 0.80357 0.576000 0.36127 1.815000 0.38981 2.319000 0.78375 0.467000 0.42956 GTG NOVEL HHIPL2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000091499.2 2 18.66064 KEEP 0 0 0 62 2222 CC 1 1 0 - 12 60 427 0 0 24.502853 431 60 15838 610 ENST00000343410.6 0.027088 1 TAF1A 9015 __UNKNOWN__ __UNKNOWN__ 1 222751002 222751002 __UNKNOWN__ Intron SNP G G A rs3828060 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:222751002G>A ENST00000352967.4 - 5 594 TAF1A_ENST00000391882.1_Intron|TAF1A_ENST00000350027.4_Intron|TAF1A_ENST00000366890.1_Intron|TAF1A_ENST00000543857.1_Intron|TAF1A_ENST00000465263.1_Intron NM_005681.3 NP_005672.1 Q15573 TAF1A_HUMAN TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa NA NA gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361) intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120) DNA binding (GO:0003677) kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1) 18 GBM - Glioblastoma multiforme(131;0.0186) AAATAATAAGGGTACACCGCC 0.373 NA G||| 81 0.0161741 0.0 0.0014 5008 , , NA 18447 0.0754 NA 0.0 False NA ,,, NA NA NA 2504 0.0041 NA NA NA NA 0 G ,, 2,4404 4.2+/-10.8 0,2,2201 76 73 74 ,, -3.4 0 1 dbSNP_107 74 0,8600 0,0,4300 no intron,intron,intron TAF1A NM_001201536.1,NM_005681.3,NM_139352.2 ,, 0,2,6501 AA,AG,GG 0.0,0.0454,0.0154 ,, ,, 222751002 2,13004 2203 4300 6503 SO:0001627 intron_variant L39060 CCDS1531.1, CCDS1532.1 1q42 2008-02-05 2002-08-29 ENSG00000143498 ENSG00000143498 9015 11532 protein-coding gene gene with protein product 604903 TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kD NA 7801123 Standard NM_005681 NM_005681 NA Approved TAFI48, SL1 uc009xdz.2 Q15573 OTTHUMG00000037544 ENST00000352967.4:c.406-17C>T chr1.hg19:g.222751002G>A NA B2RDZ8|D3DTB7|Q9NWA1 hg19 CCDS1531.1 0.02 9.36953 AAGxGTA COVERED NOVEL TAF1A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000091493.2 0 12.036753 KEEP 0 0 0 40 1350 GG 1 1 0 - 10 60 375 1 0 24.967913 193 60 6976 265 ENST00000352967.4 0.049261 1 TAF1A 9015 __UNKNOWN__ __UNKNOWN__ 1 222753089 222753089 __UNKNOWN__ Intron SNP C C G rs3748625 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:222753089C>G ENST00000352967.4 - 4 594 TAF1A_ENST00000391882.1_Intron|TAF1A_ENST00000350027.4_Intron|TAF1A_ENST00000366890.1_Intron|TAF1A_ENST00000543857.1_Intron|TAF1A_ENST00000465263.1_Intron NM_005681.3 NP_005672.1 Q15573 TAF1A_HUMAN TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa NA NA gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361) intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120) DNA binding (GO:0003677) kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1) 18 GBM - Glioblastoma multiforme(131;0.0186) TTCACAAAGCCCATATTCTCA 0.323 NA C||| 84 0.0167732 0.0 0.0014 5008 , , NA 16843 0.0764 NA 0.0 False NA ,,, NA NA NA 2504 0.0061 NA NA NA NA 0 C ,, 2,4404 4.2+/-10.8 0,2,2201 90 97 95 ,, 4.5 0 1 dbSNP_107 95 0,8598 0,0,4299 no intron,intron,intron TAF1A NM_001201536.1,NM_005681.3,NM_139352.2 ,, 0,2,6500 GG,GC,CC 0.0,0.0454,0.0154 ,, ,, 222753089 2,13002 2203 4299 6502 SO:0001627 intron_variant L39060 CCDS1531.1, CCDS1532.1 1q42 2008-02-05 2002-08-29 ENSG00000143498 ENSG00000143498 9015 11532 protein-coding gene gene with protein product 604903 TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kD NA 7801123 Standard NM_005681 NM_005681 NA Approved TAFI48, SL1 uc009xdz.2 Q15573 OTTHUMG00000037544 ENST00000352967.4:c.405+11G>C chr1.hg19:g.222753089C>G NA B2RDZ8|D3DTB7|Q9NWA1 hg19 CCDS1531.1 0.02 11.016509 AGCxCAT COVERED NOVEL TAF1A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000091493.2 3 19.863936 KEEP 0 0 0 66 2300 CC 1 1 0 - 11 60 346 0 0 18.762213 333 70 12162 486 ENST00000352967.4 0.031977 1 MIA3 375056 __UNKNOWN__ __UNKNOWN__ 1 222802376 222802376 __UNKNOWN__ Missense_Mutation SNP A A G rs2936052 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:222802376A>G ENST00000344922.5 + 4 1839 c.1814A>G c.(1813-1815)aAa>aGa p.K605R MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Missense_Mutation_p.K605R|MIA3_ENST00000470521.1_3'UTR NM_198551.2 NP_940953.2 Q5JRA6 MIA3_HUMAN melanoma inhibitory activity family, member 3 605 NA K -> R (in dbSNP:rs2936052). chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020) p.K605R(2) breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1) 80 GBM - Glioblastoma multiforme(131;0.0199) AATGGGGCCAAACTGCACACG 0.473 NA A||| 1472 0.29393 0.3222 0.3977 5008 , , NA 20855 0.3085 NA 0.168 False NA ,,, NA NA NA 2504 0.2965 NA NA NA NA 2 Substitution - Missense(2) prostate(1)|stomach(1) A ARG/LYS 1151,2895 158,835,1030 89 93 92 1814 -1.2 0 1 dbSNP_101 92 1464,6890 135,1194,2848 yes missense MIA3 NM_198551.2 26 293,2029,3878 GG,GA,AA 17.5245,28.4478,21.0887 benign 605/1908 222802376 2615,9785 2023 4177 6200 SO:0001583 missense CCDS41470.1, CCDS73035.1 1p36.33 2012-12-13 2006-07-25 ENSG00000154305 ENSG00000154305 375056 24008 protein-coding gene gene with protein product C219 reactive peptide, transport and golgi organization 613455 NA 15183315 Standard NM_198551 XM_005273121 NA Approved UNQ6077, FLJ39207, KIAA0268, TANGO uc001hnl.3 Q5JRA6 OTTHUMG00000037543 ENST00000344922.5:c.1814A>G chr1.hg19:g.222802376A>G ENSP00000340900:p.Lys605Arg NA A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580 hg19 CCDS41470.1 0.02 13.660148 CCAxACT COVERED 593 0.2715201465201465 166 0.33739837398373984 121 0.3342541436464088 178 0.3111888111888112 128 0.16886543535620052 A 8.754 0.922005 0.17982 0.284478 0.175245 ENSG00000154305 ENST00000344922;ENST00000344441;ENST00000320831 T;T 0.04603 3.59;3.59 4.32 -1.21 0.09524 . . . . . T 0.00012 0.0000 L 0.53249 1.67 0.80722 P 0.0 B;B 0.12630 0.002;0.006 B;B 0.08055 0.003;0.003 T 0.42882 -0.9425 8 0.42905 T 0.14 . 4.7772 0.13185 0.4785:0.2848:0.2367:0.0 rs2936052;rs9441838;rs17163324 605;605 Q5JRA6-2;Q5JRA6 .;MIA3_HUMAN R 605 ENSP00000340900:K605R;ENSP00000340587:K605R ENSP00000325973:K605R K + 2 0 MIA3 220868999 0.009000 0.17119 0.000000 0.03702 0.017000 0.09413 2.198000 0.42705 -0.458000 0.07023 0.254000 0.18369 AAA NOVEL MIA3-001 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000091489.4 5 22.567585 KEEP 0 0 0 75 2329 AA 1 1 0 + 9 60 346 0 0 21.293488 295 60 10422 452 ENST00000344922.5 0.029605 1 MIA3 375056 __UNKNOWN__ __UNKNOWN__ 1 222833538 222833538 __UNKNOWN__ Silent SNP C C G rs2291835 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:222833538C>G ENST00000344922.5 + 24 5020 c.4995C>G c.(4993-4995)ggC>ggG p.G1665G MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Silent_p.G1665G|MIA3_ENST00000340535.7_Silent_p.G543G|RP11-378J18.8_ENST00000608771.1_RNA NM_198551.2 NP_940953.2 Q5JRA6 MIA3_HUMAN melanoma inhibitory activity family, member 3 1665 Pro-rich. NA chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020) p.G1665G(1) breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1) 80 GBM - Glioblastoma multiforme(131;0.0199) GCCAGAATGGCTCTTTTGGCC 0.468 NA C||| 635 0.126797 0.087 0.1311 5008 , , NA 17069 0.1607 NA 0.1988 False NA ,,, NA NA NA 2504 0.0685 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) C 330,3474 14,302,1586 92 95 94 4995 4.1 1 1 dbSNP_100 94 1579,6659 147,1285,2687 no coding-synonymous MIA3 NM_198551.2 161,1587,4273 GG,GC,CC 19.1673,8.6751,15.8528 1665/1908 222833538 1909,10133 1902 4119 6021 SO:0001819 synonymous_variant CCDS41470.1, CCDS73035.1 1p36.33 2012-12-13 2006-07-25 ENSG00000154305 ENSG00000154305 375056 24008 protein-coding gene gene with protein product C219 reactive peptide, transport and golgi organization 613455 NA 15183315 Standard NM_198551 XM_005273121 NA Approved UNQ6077, FLJ39207, KIAA0268, TANGO uc001hnl.3 Q5JRA6 OTTHUMG00000037543 ENST00000344922.5:c.4995C>G chr1.hg19:g.222833538C>G NA A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580 hg19 CCDS41470.1 0.02 6.632176 TGGxTCT COVERED NOVEL MIA3-001 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000091489.4 2 15.650558 KEEP 0 0 0 52 1894 CC 1 1 0 + 8 60 291 0 0 18.616839 177 60 6824 304 ENST00000344922.5 0.043243 1 BROX 148362 __UNKNOWN__ __UNKNOWN__ 1 222886134 222886134 __UNKNOWN__ 3'UTR SNP T T C rs373731852 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:222886134T>C ENST00000496267.1 + 0 234 BROX_ENST00000340934.5_5'UTR|AIDA_ENST00000541237.1_5'UTR Q5VW32 BROX_HUMAN BRO1 domain and CAAX motif containing NA NA extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1) 14 GGCCGCCGGGTCACGTGACTC 0.607 NA C||| 54 0.0107827 0.0 0.0 5008 , , NA 14064 0.0238 NA 0.0 False NA ,,, NA NA NA 2504 0.0307 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS1534.1, CCDS73036.1, CCDS73037.1 1q41 2010-11-30 2010-11-30 2010-11-30 ENSG00000162819 ENSG00000162819 148362 26512 protein-coding gene gene with protein product BRO1 domain containing protein chromosome 1 open reading frame 58 C1orf58 NA 18190528 Standard NM_144695 XM_005273065 NA Approved FLJ32421 uc001hnq.1 Q5VW32 OTTHUMG00000037650 ENST00000496267.1:c.*231T>C chr1.hg19:g.222886134T>C NA B7Z9G5|Q96MG1 hg19 0.02 10.721189 GGGxCAC COVERED NOVEL BROX-002 PUTATIVE basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000092138.1 2 91.200772 KEEP 0 1 5 305 9638 TT 1 1 0 + 10 60 360 0 0 22.494381 243 60 8342 686 ENST00000496267.1 0.039526 1 BROX 148362 __UNKNOWN__ __UNKNOWN__ 1 222888771 222888771 __UNKNOWN__ Intron SNP C C T rs149650233 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:222888771C>T ENST00000340934.5 + 2 390 BROX_ENST00000539697.1_Intron|BROX_ENST00000537020.1_Intron NM_144695.2 NP_653296.2 Q5VW32 BROX_HUMAN BRO1 domain and CAAX motif containing NA NA extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1) 14 AACCTGAggccgggcgcggtg 0.488 NA C||| 44 0.00878594 0.0 0.0 5008 , , NA 12245 0.0218 NA 0.0 False NA ,,, NA NA NA 2504 0.0225 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS1534.1, CCDS73036.1, CCDS73037.1 1q41 2010-11-30 2010-11-30 2010-11-30 ENSG00000162819 ENSG00000162819 148362 26512 protein-coding gene gene with protein product BRO1 domain containing protein chromosome 1 open reading frame 58 C1orf58 NA 18190528 Standard NM_144695 XM_005273065 NA Approved FLJ32421 uc001hnq.1 Q5VW32 OTTHUMG00000037650 ENST00000340934.5:c.-16-255C>T chr1.hg19:g.222888771C>T NA B7Z9G5|Q96MG1 hg19 CCDS1534.1 0.02 -0.043865 GGCxGGG UNCOVERED NOVEL BROX-001 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000091815.2 5 4.815501 KEEP 2 0 0 16 551 CC 0.995343 0.023962 0 + 2 60 74 0 0 6.892845 3 60 102 29 ENST00000340934.5 0.4 0.024074 BROX 148362 __UNKNOWN__ __UNKNOWN__ 1 222906901 222906901 __UNKNOWN__ 3'UTR SNP C C T rs144908838 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:222906901C>T ENST00000340934.5 + 0 2487 NM_144695.2 NP_653296.2 Q5VW32 BROX_HUMAN BRO1 domain and CAAX motif containing NA NA extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1) 14 AATAAAAAGTCACTTATAGTT 0.313 NA C||| 54 0.0107827 0.0 0.0 5008 , , NA 17197 0.0238 NA 0.0 False NA ,,, NA NA NA 2504 0.0307 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS1534.1, CCDS73036.1, CCDS73037.1 1q41 2010-11-30 2010-11-30 2010-11-30 ENSG00000162819 ENSG00000162819 148362 26512 protein-coding gene gene with protein product BRO1 domain containing protein chromosome 1 open reading frame 58 C1orf58 NA 18190528 Standard NM_144695 XM_005273065 NA Approved FLJ32421 uc001hnq.1 Q5VW32 OTTHUMG00000037650 ENST00000340934.5:c.*845C>T chr1.hg19:g.222906901C>T NA B7Z9G5|Q96MG1 hg19 CCDS1534.1 0.02 6.290292 AGTxACT COVERED NOVEL BROX-001 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000091815.2 1 10.834354 KEEP 0 0 0 36 1252 CC 0.999999 0.999999 0 + 7 60 256 0 0 16.307893 161 60 6071 231 ENST00000340934.5 0.041667 1 BROX 148362 __UNKNOWN__ __UNKNOWN__ 1 222908180 222908180 __UNKNOWN__ 3'UTR SNP G G A rs146698601 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:222908180G>A ENST00000340934.5 + 0 3766 NM_144695.2 NP_653296.2 Q5VW32 BROX_HUMAN BRO1 domain and CAAX motif containing NA NA extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1) 14 TACCATATACGAAATGGAAAA 0.338 NA G||| 55 0.0109824 0.0 0.0014 5008 , , NA 19174 0.0238 NA 0.0 False NA ,,, NA NA NA 2504 0.0307 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS1534.1, CCDS73036.1, CCDS73037.1 1q41 2010-11-30 2010-11-30 2010-11-30 ENSG00000162819 ENSG00000162819 148362 26512 protein-coding gene gene with protein product BRO1 domain containing protein chromosome 1 open reading frame 58 C1orf58 NA 18190528 Standard NM_144695 XM_005273065 NA Approved FLJ32421 uc001hnq.1 Q5VW32 OTTHUMG00000037650 ENST00000340934.5:c.*2124G>A chr1.hg19:g.222908180G>A NA B7Z9G5|Q96MG1 hg19 CCDS1534.1 0.02 8.096524 TACxAAA COVERED NOVEL BROX-001 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000091815.2 1 13.238653 KEEP 0 0 0 44 1457 GG 1 1 0 + 7 60 255 0 0 15.332761 216 60 7731 325 ENST00000340934.5 0.03139 1 BROX 148362 __UNKNOWN__ __UNKNOWN__ 1 222908446 222908446 __UNKNOWN__ 3'UTR SNP G G A rs17163466 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:222908446G>A ENST00000340934.5 + 0 4032 NM_144695.2 NP_653296.2 Q5VW32 BROX_HUMAN BRO1 domain and CAAX motif containing NA NA extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1) 14 ATACTAGGCAGTGACAACTAA 0.284 NA G||| 101 0.0201677 0.0 0.0014 5008 , , NA 17704 0.0933 NA 0.002 False NA ,,, NA NA NA 2504 0.0041 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS1534.1, CCDS73036.1, CCDS73037.1 1q41 2010-11-30 2010-11-30 2010-11-30 ENSG00000162819 ENSG00000162819 148362 26512 protein-coding gene gene with protein product BRO1 domain containing protein chromosome 1 open reading frame 58 C1orf58 NA 18190528 Standard NM_144695 XM_005273065 NA Approved FLJ32421 uc001hnq.1 Q5VW32 OTTHUMG00000037650 ENST00000340934.5:c.*2390G>A chr1.hg19:g.222908446G>A NA B7Z9G5|Q96MG1 hg19 CCDS1534.1 0.02 8.500891 GCAxTGA COVERED NOVEL BROX-001 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000091815.2 1 6.621875 KEEP 0 0 0 22 800 GG 0.999879 0.999879 0 + 8 60 298 0 0 18.845052 203 60 7726 276 ENST00000340934.5 0.037915 1 FAM177B 400823 __UNKNOWN__ __UNKNOWN__ 1 222922793 222922793 __UNKNOWN__ Intron SNP G G T rs151202441 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:222922793G>T ENST00000445590.2 + 5 507 FAM177B_ENST00000360827.2_Intron NM_207468.2 NP_997351.2 A6PVY3 F177B_HUMAN family with sequence similarity 177, member B NA NA breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|stomach(1) 8 GCAAGTGCTCGTTCTTTCTTT 0.363 NA G||| 54 0.0107827 0.0 0.0 5008 , , NA 19193 0.0238 NA 0.0 False NA ,,, NA NA NA 2504 0.0307 NA NA NA NA 0 G 3,3721 0,3,1859 101 91 94 -5.3 0 1 dbSNP_134 94 1,8203 0,1,4101 no intron FAM177B NM_207468.2 0,4,5960 TT,TG,GG 0.0122,0.0806,0.0335 222922793 4,11924 1862 4102 5964 SO:0001627 intron_variant AK125494 CCDS1535.2 1q41 2008-08-08 ENSG00000197520 ENSG00000197520 400823 34395 protein-coding gene gene with protein product NA Standard NM_207468 NM_207468 NA Approved RP11-452F19.2, FLJ43505 uc001hnt.3 A6PVY3 OTTHUMG00000037766 ENST00000445590.2:c.242-14G>T chr1.hg19:g.222922793G>T NA Q6ZUN8 hg19 CCDS1535.2 0.02 14.288291 CTCxTTC COVERED NOVEL FAM177B-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000092151.2 3 14.144515 KEEP 0 0 0 47 1592 GG 1 1 0 + 10 60 388 0 0 24.36387 302 60 10483 433 ENST00000445590.2 0.032051 1 DISP1 84976 __UNKNOWN__ __UNKNOWN__ 1 223116240 223116240 __UNKNOWN__ Silent SNP G G A rs61746477 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:223116240G>A ENST00000284476.6 + 2 239 c.75G>A c.(73-75)ccG>ccA p.P25P DISP1_ENST00000360254.2_Silent_p.P25P|DISP1_ENST00000495684.1_Intron NM_032890.3 NP_116279.2 Q96F81 DISP1_HUMAN dispatched homolog 1 (Drosophila) 25 NA determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224) basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021) hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5) 69 GBM - Glioblastoma multiforme(131;0.102) CTGCTAACCCGAGTCCCCTCA 0.488 NA G||| 583 0.116414 0.0809 0.1254 5008 , , NA 22213 0.1438 NA 0.0746 False NA ,,, NA NA NA 2504 0.1728 NA NA NA NA 0 G 374,4032 188.8+/-215.1 17,340,1846 121 110 114 75 -7 0 1 dbSNP_129 114 719,7881 175.5+/-225.5 24,671,3605 no coding-synonymous DISP1 NM_032890.3 41,1011,5451 AA,AG,GG 8.3605,8.4884,8.4038 25/1525 223116240 1093,11913 2203 4300 6503 SO:0001819 synonymous_variant AK056569 CCDS1536.1 1q42.12 2008-02-05 ENSG00000154309 ENSG00000154309 84976 19711 protein-coding gene gene with protein product 607502 NA 10619433 Standard NM_032890 NM_032890 NA Approved DISPA, MGC13130, DKFZP434I0428, MGC16796 uc001hnu.2 Q96F81 OTTHUMG00000037893 ENST00000284476.6:c.75G>A chr1.hg19:g.223116240G>A NA Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2 hg19 CCDS1536.1 0.02 37.002362 CCCxAGT COVERED NOVEL DISP1-001 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000092512.1 7 36.112898 KEEP 0 0 0 120 4078 GG 1 1 0 + 29 60 1063 1 0 65.021136 837 60 29670 1162 ENST00000284476.6 0.033487 1 CAPN8 388743 __UNKNOWN__ __UNKNOWN__ 1 223715032 223715032 __UNKNOWN__ 3'UTR SNP G G A rs77880836 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:223715032G>A ENST00000366872.5 - 0 2212 A6NHC0 CAN8_HUMAN calpain 8 NA NA digestion (GO:0007586)|proteolysis (GO:0006508) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794) calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198) NS(1)|endometrium(2)|prostate(1) 4 CCACCGGGTCGGCTTACATAG 0.478 NA G||| 33 0.00658946 0.0 0.0 5008 , , NA 19109 0.0308 NA 0.0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS73038.1 1q41 2013-01-10 2007-02-21 ENSG00000203697 ENSG00000203697 388743 EF-hand domain containing 1485 protein-coding gene gene with protein product calpain 8 (nCL-2) NA 7690035, 8889549 Standard NM_001143962 NM_001143962 NA Approved nCL-2 uc009xee.2 A6NHC0 OTTHUMG00000037378 ENST00000366872.5:c.*167C>T chr1.hg19:g.223715032G>A NA B2RXL2 hg19 0.02 6.150819 GTCxGCT COVERED NOVEL CAPN8-201 KNOWN basic|appris_principal protein_coding NA protein_coding 1 9.618172 KEEP 0 0 0 32 1062 GG 0.999997 0.999997 0 - 9 60 323 0 0 20.997537 175 60 5892 259 ENST00000366872.5 0.048913 1 CAPN8 388743 __UNKNOWN__ __UNKNOWN__ 1 223805231 223805231 __UNKNOWN__ 3'UTR SNP T T G rs4075735 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:223805231T>G ENST00000366873.2 - 0 1964 CAPN8_ENST00000366872.5_Intron A6NHC0 CAN8_HUMAN calpain 8 NA NA digestion (GO:0007586)|proteolysis (GO:0006508) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794) calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198) NS(1)|endometrium(2)|prostate(1) 4 AGATACCTTGTGCACCCCCTA 0.443 NA G||| 3853 0.769369 0.9493 0.7003 5008 , , NA 16322 0.6994 NA 0.6521 False NA ,,, NA NA NA 2504 0.7679 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS73038.1 1q41 2013-01-10 2007-02-21 ENSG00000203697 ENSG00000203697 388743 EF-hand domain containing 1485 protein-coding gene gene with protein product calpain 8 (nCL-2) NA 7690035, 8889549 Standard NM_001143962 NM_001143962 NA Approved nCL-2 uc009xee.2 A6NHC0 OTTHUMG00000037378 ENST00000366873.2:c.*742A>C chr1.hg19:g.223805231T>G NA B2RXL2 hg19 0.02 4.210328 TTGxGCA COVERED NOVEL CAPN8-001 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000171394.3 1 6.920444 KEEP 0 0 0 23 711 TT 0.999892 0.999892 0 - 8 60 256 0 0 16.554315 125 60 4460 182 ENST00000366873.2 0.06015 1 CAPN8 388743 __UNKNOWN__ __UNKNOWN__ 1 223805308 223805308 __UNKNOWN__ 3'UTR SNP G G A rs73119729 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:223805308G>A ENST00000366873.2 - 0 1887 CAPN8_ENST00000366872.5_Intron A6NHC0 CAN8_HUMAN calpain 8 NA NA digestion (GO:0007586)|proteolysis (GO:0006508) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794) calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198) NS(1)|endometrium(2)|prostate(1) 4 TGCTAATGGTGAGCATATTTT 0.388 NA G||| 879 0.175519 0.2625 0.0706 5008 , , NA 19031 0.2143 NA 0.0447 False NA ,,, NA NA NA 2504 0.227 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS73038.1 1q41 2013-01-10 2007-02-21 ENSG00000203697 ENSG00000203697 388743 EF-hand domain containing 1485 protein-coding gene gene with protein product calpain 8 (nCL-2) NA 7690035, 8889549 Standard NM_001143962 NM_001143962 NA Approved nCL-2 uc009xee.2 A6NHC0 OTTHUMG00000037378 ENST00000366873.2:c.*665C>T chr1.hg19:g.223805308G>A NA B2RXL2 hg19 0.02 4.804466 GGTxAGC COVERED NOVEL CAPN8-001 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000171394.3 3 5.717819 KEEP 0 0 0 19 655 GG 0.999863 0.999862 0 - 6 60 231 0 0 15.575499 116 60 4372 168 ENST00000366873.2 0.04918 0.999999 CAPN8 388743 __UNKNOWN__ __UNKNOWN__ 1 223841877 223841877 __UNKNOWN__ Intron SNP C C G rs2105406 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:223841877C>G ENST00000366873.2 - 2 384 CAPN8_ENST00000366872.5_Intron A6NHC0 CAN8_HUMAN calpain 8 NA NA digestion (GO:0007586)|proteolysis (GO:0006508) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794) calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198) NS(1)|endometrium(2)|prostate(1) 4 TTTGGACTCACAGTGAAGAAT 0.438 NA C||| 1955 0.390375 0.5159 0.2896 5008 , , NA 19800 0.501 NA 0.1988 False NA ,,, NA NA NA 2504 0.3753 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS73038.1 1q41 2013-01-10 2007-02-21 ENSG00000203697 ENSG00000203697 388743 EF-hand domain containing 1485 protein-coding gene gene with protein product calpain 8 (nCL-2) NA 7690035, 8889549 Standard NM_001143962 NM_001143962 NA Approved nCL-2 uc009xee.2 A6NHC0 OTTHUMG00000037378 ENST00000366873.2:c.307+154G>C chr1.hg19:g.223841877C>G NA B2RXL2 hg19 0.02 2.071559 TCAxAGT COVERED NOVEL CAPN8-001 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000171394.3 1 2.708843 KEEP 0 0 0 9 320 CC 0.99254 0.992435 0 - 5 60 193 0 0 13.227744 88 60 3275 106 ENST00000366873.2 0.053763 0.999895 CAPN2 824 __UNKNOWN__ __UNKNOWN__ 1 223900544 223900544 __UNKNOWN__ Missense_Mutation SNP A A G rs2230083 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:223900544A>G ENST00000295006.5 + 1 511 c.202A>G c.(202-204)Agc>Ggc p.S68G CAPN2_ENST00000433674.2_Intron NM_001748.4 NP_001739 P17655 CAN2_HUMAN calpain 2, (m/II) large subunit 68 Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}. NA S -> G (in dbSNP:rs2230083). {ECO:0000269|PubMed:2539381, ECO:0000269|Ref.4}. blastocyst development (GO:0001824)|cellular response to amino acid stimulus (GO:0071230)|myoblast fusion (GO:0007520)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of cytoskeleton organization (GO:0051493)|response to hypoxia (GO:0001666) chromatin (GO:0000785)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143) calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|cytoskeletal protein binding (GO:0008092) breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3) 29 GBM - Glioblastoma multiforme(131;0.109) GCCCTACTCCAGCAAAACCCG 0.736 NA A||| 264 0.0527157 0.0 0.0029 5008 , , NA 8742 0.1657 NA 0.001 False NA ,,, NA NA NA 2504 0.0961 NA NA NA NA 0 A ,GLY/SER 6,4378 0,6,2186 12 13 13 ,202 2.7 0.7 1 dbSNP_98 13 9,8575 0,9,4283 yes intron,missense CAPN2 NM_001146068.1,NM_001748.4 ,56 0,15,6469 GG,GA,AA 0.1048,0.1369,0.1157 ,possibly-damaging ,68/701 223900544 15,12953 2192 4292 6484 SO:0001583 missense J04700 CCDS31035.1, CCDS53478.1 1q41-q42 2013-01-10 ENSG00000162909 ENSG00000162909 824 3.4.22.52 EF-hand domain containing 1479 protein-coding gene gene with protein product 114230 NA 2852952, 2539381 Standard NM_001748 NM_001748 NA Approved mCANP, CANPml, CANPL2 uc001hob.4 P17655 OTTHUMG00000037376 ENST00000295006.5:c.202A>G chr1.hg19:g.223900544A>G ENSP00000295006:p.Ser68Gly NA A6NDG7|B7ZA96|E7ES58|Q16738|Q6PJT3|Q8WU26|Q9HBB1 hg19 CCDS31035.1 0.02 6.266991 TCCxGCA COVERED 96 0.04395604395604396 5 0.01016260162601626 2 0.0055248618784530384 88 0.15384615384615385 1 0.0013192612137203166 A 14.46 2.542922 0.45280 0.001369 0.001048 ENSG00000162909 ENST00000295006;ENST00000366869 T 0.46819 0.86 3.88 2.71 0.32032 Peptidase C2, calpain, catalytic domain (3); 0.365191 0.28398 U 0.015498 T 0.00210 0.0006 L 0.58583 1.82 0.09310 P 0.99999999793195 B 0.32382 0.368 B 0.28139 0.086 T 0.06144 -1.0843 9 0.30078 T 0.28 . 2.9728 0.05928 0.3429:0.4285:0.0884:0.1402 rs2230083;rs2275878 68 P17655 CAN2_HUMAN G 68;97 ENSP00000295006:S68G ENSP00000295006:S68G S + 1 0 CAPN2 221967167 0.000000 0.05858 0.675000 0.29917 0.983000 0.72400 -0.826000 0.04429 0.449000 0.26747 0.402000 0.26972 AGC NOVEL CAPN2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000090973.1 1 40.917394 KEEP 0 0 0 136 4144 AA 1 1 0 + 6 60 217 0 0 13.115386 176 60 6579 395 ENST00000295006.5 0.032967 1 CAPN2 824 __UNKNOWN__ __UNKNOWN__ 1 223954080 223954080 __UNKNOWN__ Missense_Mutation SNP A A C rs17599 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:223954080A>C ENST00000295006.5 + 16 2011 c.1702A>C c.(1702-1704)Aag>Cag p.K568Q CAPN2_ENST00000433674.2_Missense_Mutation_p.K490Q|CAPN2_ENST00000474026.1_3'UTR NM_001748.4 NP_001739 P17655 CAN2_HUMAN calpain 2, (m/II) large subunit 568 Domain IV. NA K -> Q (in dbSNP:rs17599). {ECO:0000269|Ref.4}. blastocyst development (GO:0001824)|cellular response to amino acid stimulus (GO:0071230)|myoblast fusion (GO:0007520)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of cytoskeleton organization (GO:0051493)|response to hypoxia (GO:0001666) chromatin (GO:0000785)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143) calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|cytoskeletal protein binding (GO:0008092) p.K568Q(1) breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3) 29 GBM - Glioblastoma multiforme(131;0.109) CCAAGATATCAAGTCAGATGG 0.403 NA A||| 1038 0.207268 0.0983 0.2493 5008 , , NA 22375 0.2698 NA 0.2425 False NA ,,, NA NA NA 2504 0.2239 NA NA NA NA 1 Substitution - Missense(1) stomach(1) A GLN/LYS,GLN/LYS 554,3852 249.3+/-256.8 38,478,1687 142 126 132 1468,1702 5.5 1 1 dbSNP_63 132 2104,6496 362.6+/-332.8 269,1566,2465 yes missense,missense CAPN2 NM_001146068.1,NM_001748.4 53,53 307,2044,4152 CC,CA,AA 24.4651,12.5738,20.4367 probably-damaging,probably-damaging 490/623,568/701 223954080 2658,10348 2203 4300 6503 SO:0001583 missense J04700 CCDS31035.1, CCDS53478.1 1q41-q42 2013-01-10 ENSG00000162909 ENSG00000162909 824 3.4.22.52 EF-hand domain containing 1479 protein-coding gene gene with protein product 114230 NA 2852952, 2539381 Standard NM_001748 NM_001748 NA Approved mCANP, CANPml, CANPL2 uc001hob.4 P17655 OTTHUMG00000037376 ENST00000295006.5:c.1702A>C chr1.hg19:g.223954080A>C ENSP00000295006:p.Lys568Gln NA A6NDG7|B7ZA96|E7ES58|Q16738|Q6PJT3|Q8WU26|Q9HBB1 hg19 CCDS31035.1 0.02 4.39425 ATCxAGT COVERED 466 0.21336996336996336 51 0.10365853658536585 91 0.2513812154696133 132 0.23076923076923078 192 0.2532981530343008 A 16.47 3.132564 0.56828 0.125738 0.244651 ENSG00000162909 ENST00000433674;ENST00000295006;ENST00000366869 T;T 0.32988 1.43;1.43 5.47 5.47 0.80525 EF-hand-like domain (1); 0.154834 0.56097 D 0.000021 T 0.00012 0.0000 M 0.77712 2.385 0.09310 P 0.999999146384 B;B;B 0.17465 0.007;0.022;0.007 B;B;B 0.27796 0.032;0.083;0.02 T 0.07424 -1.0773 9 0.59425 D 0.04 . 15.5473 0.76112 1.0:0.0:0.0:0.0 rs17599;rs1130849;rs3190187;rs3738372;rs11547592;rs17318843;rs17398495;rs52809008;rs59544343;rs3738372 490;151;568 B7ZA96;B3KUH9;P17655 .;.;CAN2_HUMAN Q 490;568;597 ENSP00000413158:K490Q;ENSP00000295006:K568Q ENSP00000295006:K568Q K + 1 0 CAPN2 222020703 1.000000 0.71417 1.000000 0.80357 0.951000 0.60555 7.158000 0.77470 2.069000 0.61940 0.459000 0.35465 AAG NOVEL CAPN2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000090973.1 0 12.33629 KEEP 0 0 0 41 1279 AA 1 1 0 + 5 60 190 0 0 11.9284 141 60 5202 219 ENST00000295006.5 0.034247 1 CAPN2 824 __UNKNOWN__ __UNKNOWN__ 1 223962817 223962817 __UNKNOWN__ 3'UTR SNP C C A rs28370177 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:223962817C>A ENST00000295006.5 + 0 2670 CAPN2_ENST00000433674.2_3'UTR|CAPN2_ENST00000474026.1_3'UTR NM_001748.4 NP_001739 P17655 CAN2_HUMAN calpain 2, (m/II) large subunit NA NA blastocyst development (GO:0001824)|cellular response to amino acid stimulus (GO:0071230)|myoblast fusion (GO:0007520)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of cytoskeleton organization (GO:0051493)|response to hypoxia (GO:0001666) chromatin (GO:0000785)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143) calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|cytoskeletal protein binding (GO:0008092) breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3) 29 GBM - Glioblastoma multiforme(131;0.109) AGCTTTAAATCTGTAAATAGT 0.313 NA C||| 97 0.019369 0.0 0.0 5008 , , NA 19257 0.0903 NA 0.0 False NA ,,, NA NA NA 2504 0.0061 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant J04700 CCDS31035.1, CCDS53478.1 1q41-q42 2013-01-10 ENSG00000162909 ENSG00000162909 824 3.4.22.52 EF-hand domain containing 1479 protein-coding gene gene with protein product 114230 NA 2852952, 2539381 Standard NM_001748 NM_001748 NA Approved mCANP, CANPml, CANPL2 uc001hob.4 P17655 OTTHUMG00000037376 ENST00000295006.5:c.*258C>A chr1.hg19:g.223962817C>A NA A6NDG7|B7ZA96|E7ES58|Q16738|Q6PJT3|Q8WU26|Q9HBB1 hg19 CCDS31035.1 0.02 4.583862 AATxTGT COVERED NOVEL CAPN2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000090973.1 1 5.417458 KEEP 0 0 0 18 628 CC 0.999859 0.999855 0 + 9 60 335 0 0 24.158532 104 60 3926 142 ENST00000295006.5 0.079646 0.999995 TP53BP2 7159 __UNKNOWN__ __UNKNOWN__ 1 223976846 223976846 __UNKNOWN__ Silent SNP G G A rs12044358 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:223976846G>A ENST00000343537.7 - 16 3318 c.3027C>T c.(3025-3027)aaC>aaT p.N1009N TP53BP2_ENST00000391879.2_Silent_p.N242N|TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000391878.2_Silent_p.N880N NM_001031685.2 NP_001026855.2 Q13625 ASPP2_HUMAN tumor protein p53 binding protein 2 1003 Mediates interaction with APC2. NA cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|nucleus (GO:0005634) identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070) NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2) 29 GBM - Glioblastoma multiforme(131;0.0958) CTTGGACGTTGTTACATGAGG 0.468 NA G||| 97 0.019369 0.0 0.0 5008 , , NA 19516 0.0903 NA 0.0 False NA ,,, NA NA NA 2504 0.0061 NA NA NA NA 0 G , 4,4402 8.1+/-20.4 0,4,2199 140 125 130 3027,2640 3.5 1 1 dbSNP_120 130 2,8598 2.2+/-6.3 0,2,4298 no coding-synonymous,coding-synonymous TP53BP2 NM_001031685.2,NM_005426.2 , 0,6,6497 AA,AG,GG 0.0233,0.0908,0.0461 , 1009/1135,880/1006 223976846 6,13000 2203 4300 6503 SO:0001819 synonymous_variant U09582 CCDS1538.1, CCDS44319.1 1q41 2014-06-24 2014-06-24 ENSG00000143514 ENSG00000143514 7159 Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits, Ankyrin repeat domain containing 12000 protein-coding gene gene with protein product 602143 tumor protein p53-binding protein, 2 NA 8668206, 8016121 Standard NM_001031685, NM_005426 NM_005426 NA Approved PPP1R13A, ASPP2, 53BP2 uc010pvb.2 Q13625 OTTHUMG00000037379 ENST00000343537.7:c.3027C>T chr1.hg19:g.223976846G>A NA B4DG66|Q12892|Q86X75|Q96KQ3 hg19 CCDS44319.1 0.02 6.498779 GTTxTTA COVERED NOVEL TP53BP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000090985.3 5 17.758082 KEEP 0 0 0 59 2097 GG 1 1 0 - 6 60 217 0 0 13.34404 161 60 6034 276 ENST00000343537.7 0.035928 1 WDR26 80232 __UNKNOWN__ __UNKNOWN__ 1 224577397 224577397 __UNKNOWN__ 3'UTR SNP A A G rs16847945 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:224577397A>G ENST00000414423.2 - 0 2319 WDR26_ENST00000295024.6_3'UTR|WDR26_ENST00000366852.2_3'UTR NM_001115113.2|NM_025160.6 NP_001108585.2|NP_079436.4 Q9H7D7 WDR26_HUMAN WD repeat domain 26 NA NA cytoplasm (GO:0005737)|nucleus (GO:0005634) biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6) 18 GBM - Glioblastoma multiforme(131;0.0104) TTTGGCCCCAATCGGGCTTCA 0.423 NA A||| 497 0.0992412 0.0061 0.2147 5008 , , NA 17261 0.1687 NA 0.0606 False NA ,,, NA NA NA 2504 0.1115 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK024669 CCDS31037.1, CCDS31037.2 1q42.13 2013-01-09 ENSG00000162923 ENSG00000162923 80232 WD repeat domain containing 21208 protein-coding gene gene with protein product GID complex subunit 7 homolog (S. cerevisiae) NA Standard NM_025160 NM_001115113 NA Approved FLJ21016, GID7 uc001hop.4 Q9H7D7 OTTHUMG00000037636 ENST00000414423.2:c.*140T>C chr1.hg19:g.224577397A>G NA A0MNN3|Q4G100|Q59EC4|Q5GLZ9|Q86UY4|Q9H3C2 hg19 CCDS31037.2 0.02 18.660416 CCAxTCG COVERED NOVEL WDR26-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000091760.2 2 26.480222 KEEP 0 0 0 88 2826 AA 1 1 0 - 16 60 610 0 0 39.404978 388 60 13757 580 ENST00000414423.2 0.039604 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 224803929 224803929 __UNKNOWN__ IGR SNP C C T rs527798522 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:224803929C>T NA NA RP11-100E13.1 (7 upstream) : CNIH3 (65 downstream) NA NA NA CTGCAGTCTCCGCCCGCCGGG 0.736 NA C||| 1 0.000199681 0.0 0.0 5008 , , NA 9913 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.224803929C>T NA hg19 0.02 1.619733 CTCxGCC COVERED NOVEL 0 0 4.514304 KEEP 0 0 0 15 500 CC 0.99649 0.996446 0 5 60 169 0 0 10.694099 94 60 3373 132 0.050505 0.999956 DNAH14 127602 __UNKNOWN__ __UNKNOWN__ 1 225156457 225156457 __UNKNOWN__ Intron SNP G G A rs16858926 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:225156457G>A ENST00000445597.2 + 7 1032 DNAH14_ENST00000366849.1_Intron|DNAH14_ENST00000439375.2_Intron|DNAH14_ENST00000400952.3_Intron|DNAH14_ENST00000430092.1_Intron Q0VDD8 DYH14_HUMAN dynein, axonemal, heavy chain 14 NA NA microtubule-based movement (GO:0007018) cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874) ATP binding (GO:0005524)|microtubule motor activity (GO:0003777) NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1) 27 GCTTTATTTTGTAGGTTATTA 0.284 NA G||| 669 0.133586 0.0023 0.1671 5008 , , NA 16316 0.3036 NA 0.1044 False NA ,,, NA NA NA 2504 0.1421 NA NA NA NA 0 88 73 78 NA NA 1 NA 225156457 692 1589 2281 SO:0001627 intron_variant U61741 CCDS41472.1, CCDS44322.1 1q42.13 2009-02-12 2006-09-04 ENSG00000185842 ENSG00000185842 127602 Axonemal dyneins 2945 protein-coding gene gene with protein product 603341 dynein, axonemal, heavy polypeptide 14, chromosome 1 open reading frame 67 C1orf67 NA 8812413 Standard XM_059166 NM_144989 NA Approved Dnahc14, HL-18, HL18, DKFZp781B1548, MGC27277 uc001how.2 Q0VDD8 OTTHUMG00000037447 ENST00000445597.2:c.1032+1172G>A chr1.hg19:g.225156457G>A NA A6NG62|A6NNL2|Q0VDD9|Q4VXC7|Q4VXG4|Q4VXG5|Q5VU33|Q5VU34 hg19 0.02 1.973855 TTTxTAG COVERED NOVEL DNAH14-007 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000331217.3 1 3.611761 KEEP 0 0 0 12 422 GG 0.993634 0.990378 0 + 4 60 146 0 0 9.851688 66 60 2482 90 ENST00000445597.2 0.057143 0.996724 DNAH14 127602 __UNKNOWN__ __UNKNOWN__ 1 225506262 225506262 __UNKNOWN__ Intron SNP G G A rs4653418 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:225506262G>A ENST00000445597.2 + 41 7002 DNAH14_ENST00000439375.2_Intron|DNAH14_ENST00000430092.1_Intron Q0VDD8 DYH14_HUMAN dynein, axonemal, heavy chain 14 NA NA microtubule-based movement (GO:0007018) cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874) ATP binding (GO:0005524)|microtubule motor activity (GO:0003777) NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1) 27 ATATGTGTTTGGGGACCTATA 0.338 NA G||| 1079 0.215455 0.0567 0.268 5008 , , NA 19197 0.3353 NA 0.2107 False NA ,,, NA NA NA 2504 0.274 NA NA NA NA 0 G 136,1248 5,126,561 86 75 78 -3.3 0 1 dbSNP_111 78 720,2462 81,558,952 no intron DNAH14 NM_001373.1 86,684,1513 AA,AG,GG 22.6273,9.8266,18.7473 225506262 856,3710 692 1591 2283 SO:0001627 intron_variant U61741 CCDS41472.1, CCDS44322.1 1q42.13 2009-02-12 2006-09-04 ENSG00000185842 ENSG00000185842 127602 Axonemal dyneins 2945 protein-coding gene gene with protein product 603341 dynein, axonemal, heavy polypeptide 14, chromosome 1 open reading frame 67 C1orf67 NA 8812413 Standard XM_059166 NM_144989 NA Approved Dnahc14, HL-18, HL18, DKFZp781B1548, MGC27277 uc001how.2 Q0VDD8 OTTHUMG00000037447 ENST00000445597.2:c.7003-23G>A chr1.hg19:g.225506262G>A NA A6NG62|A6NNL2|Q0VDD9|Q4VXC7|Q4VXG4|Q4VXG5|Q5VU33|Q5VU34 hg19 0.02 10.069297 TTTxGGG COVERED NOVEL DNAH14-007 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000331217.3 0 13.844931 KEEP 0 0 0 46 1621 GG 1 1 0 + 9 60 317 0 0 19.034955 250 60 9558 369 ENST00000445597.2 0.034749 1 DNAH14 127602 __UNKNOWN__ __UNKNOWN__ 1 225528183 225528183 __UNKNOWN__ Missense_Mutation SNP C C A rs377250670|rs3856145 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:225528183C>A ENST00000445597.2 + 47 7770 c.7770C>A c.(7768-7770)gaC>gaA p.D2590E DNAH14_ENST00000439375.2_Missense_Mutation_p.D3393E|DNAH14_ENST00000430092.1_Missense_Mutation_p.D3393E Q0VDD8 DYH14_HUMAN dynein, axonemal, heavy chain 14 2590 NA microtubule-based movement (GO:0007018) cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874) ATP binding (GO:0005524)|microtubule motor activity (GO:0003777) NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1) 27 CAGAAATAGACAACCCCCATT 0.318 NA C||| 2653 0.529752 0.643 0.4697 5008 , , NA 17622 0.5089 NA 0.4046 False NA ,,, NA NA NA 2504 0.5695 NA NA NA NA 0 C GLU/ASP 846,538 270,306,116 113 99 103 10179 0.7 1 1 dbSNP_108 103 1403,1779 323,757,511 yes missense DNAH14 NM_001373.1 45 593,1063,627 AA,AC,CC 44.0918,38.8728,49.2554 possibly-damaging 3393/4516 225528183 2249,2317 692 1591 2283 SO:0001583 missense U61741 CCDS41472.1, CCDS44322.1 1q42.13 2009-02-12 2006-09-04 ENSG00000185842 ENSG00000185842 127602 Axonemal dyneins 2945 protein-coding gene gene with protein product 603341 dynein, axonemal, heavy polypeptide 14, chromosome 1 open reading frame 67 C1orf67 NA 8812413 Standard XM_059166 NM_144989 NA Approved Dnahc14, HL-18, HL18, DKFZp781B1548, MGC27277 uc001how.2 Q0VDD8 OTTHUMG00000037447 ENST00000445597.2:c.7770C>A chr1.hg19:g.225528183C>A ENSP00000409472:p.Asp2590Glu NA A6NG62|A6NNL2|Q0VDD9|Q4VXC7|Q4VXG4|Q4VXG5|Q5VU33|Q5VU34 hg19 0.02 10.237525 AGAxAAC COVERED 1057 0.483974358974359 305 0.6199186991869918 165 0.4558011049723757 281 0.49125874125874125 306 0.40369393139841686 C 13.41 2.229518 0.39399 0.611272 0.440918 ENSG00000185842 ENST00000445597;ENST00000430092;ENST00000439375 T;T;T 0.21191 2.02;2.02;2.02 5.22 0.724 0.18236 . . . . . T 0.00012 0.0000 . . . 0.09310 P 0.99999999854566 B 0.31817 0.341 B 0.32762 0.152 T 0.33214 -0.9877 7 0.32370 T 0.25 . 1.4675 0.02408 0.2894:0.3987:0.141:0.1709 rs3856145;rs52794541;rs58846503;rs3856145 3393 Q0VDD8-4 . E 2590;3393;3393 ENSP00000409472:D2590E;ENSP00000414402:D3393E;ENSP00000392061:D3393E ENSP00000414402:D3393E D + 3 2 DNAH14 223594806 1.000000 0.71417 0.981000 0.43875 0.977000 0.68977 0.462000 0.21956 -0.062000 0.13088 0.508000 0.49915 GAC NOVEL DNAH14-007 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000331217.3 1 8.728556 KEEP 0 0 0 29 1029 CC 0.999997 0.999997 0 + 10 60 361 0 0 22.256662 263 60 9860 344 ENST00000445597.2 0.03663 1 DNAH14 127602 __UNKNOWN__ __UNKNOWN__ 1 225534219 225534219 __UNKNOWN__ Missense_Mutation SNP T T C rs7527925 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:225534219T>C ENST00000445597.2 + 49 8471 c.8471T>C c.(8470-8472)gTa>gCa p.V2824A DNAH14_ENST00000439375.2_Missense_Mutation_p.V3627A|DNAH14_ENST00000430092.1_Missense_Mutation_p.V3627A Q0VDD8 DYH14_HUMAN dynein, axonemal, heavy chain 14 2824 NA microtubule-based movement (GO:0007018) cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874) ATP binding (GO:0005524)|microtubule motor activity (GO:0003777) NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1) 27 CTTTGCACTGTAATCATGCAA 0.323 NA C||| 2650 0.529153 0.6407 0.4697 5008 , , NA 17450 0.5089 NA 0.4046 False NA ,,, NA NA NA 2504 0.5695 NA NA NA NA 0 C ALA/VAL 842,542 268,306,118 70 60 63 10880 3.5 0.2 1 dbSNP_116 63 1404,1770 323,758,506 yes missense DNAH14 NM_001373.1 64 591,1064,624 CC,CT,TT 44.2344,39.1618,49.276 benign 3627/4516 225534219 2246,2312 692 1587 2279 SO:0001583 missense U61741 CCDS41472.1, CCDS44322.1 1q42.13 2009-02-12 2006-09-04 ENSG00000185842 ENSG00000185842 127602 Axonemal dyneins 2945 protein-coding gene gene with protein product 603341 dynein, axonemal, heavy polypeptide 14, chromosome 1 open reading frame 67 C1orf67 NA 8812413 Standard XM_059166 NM_144989 NA Approved Dnahc14, HL-18, HL18, DKFZp781B1548, MGC27277 uc001how.2 Q0VDD8 OTTHUMG00000037447 ENST00000445597.2:c.8471T>C chr1.hg19:g.225534219T>C ENSP00000409472:p.Val2824Ala NA A6NG62|A6NNL2|Q0VDD9|Q4VXC7|Q4VXG4|Q4VXG5|Q5VU33|Q5VU34 hg19 0.02 7.370757 CTGxAAT COVERED 1054 0.4826007326007326 302 0.6138211382113821 165 0.4558011049723757 281 0.49125874125874125 306 0.40369393139841686 C 2.312 -0.357714 0.05138 0.608382 0.442344 ENSG00000185842 ENST00000445597;ENST00000430092;ENST00000439375 T;T;T 0.50001 0.76;0.76;0.76 5.48 3.53 0.40419 . . . . . T 0.00012 0.0000 . . . 0.58432 P 1.0000000000287557E-6 B 0.02656 0.0 B 0.04013 0.001 T 0.45086 -0.9285 7 0.15066 T 0.55 . 3.7279 0.08481 0.1327:0.5895:0.1289:0.1488 rs7527925;rs52797267;rs56543759;rs61045802;rs7527925 3627 Q0VDD8-4 . A 2824;3627;3627 ENSP00000409472:V2824A;ENSP00000414402:V3627A;ENSP00000392061:V3627A ENSP00000414402:V3627A V + 2 0 DNAH14 223600842 0.000000 0.05858 0.155000 0.22561 0.949000 0.60115 0.067000 0.14510 0.662000 0.31006 -0.294000 0.09567 GTA NOVEL DNAH14-007 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000331217.3 2 3.912062 KEEP 0 0 0 13 415 TT 0.994391 0.994391 0 + 6 60 242 0 0 15.79216 164 60 5914 226 ENST00000445597.2 0.035294 1 LBR 3930 __UNKNOWN__ __UNKNOWN__ 1 225590254 225590254 __UNKNOWN__ 3'UTR SNP T T C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:225590254T>C ENST00000338179.2 - 0 2724 LBR_ENST00000272163.4_3'UTR NM_194442.2 NP_919424.1 Q14739 LBR_HUMAN lamin B receptor NA NA cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281) integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965) chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|lamin binding (GO:0005521)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|poly(A) RNA binding (GO:0044822) breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 22 Breast(184;0.165) GBM - Glioblastoma multiforme(131;0.117) AATTTTTAATTCACATTACTT 0.249 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L25931 CCDS1545.1 1q42.1 2013-01-23 ENSG00000143815 ENSG00000143815 3930 Tudor domain containing 6518 protein-coding gene gene with protein product tudor domain containing 18 600024 NA 8157663, 9878250 Standard NM_002296 NM_194442 NA Approved DHCR14B, TDRD18 uc001hoy.3 Q14739 OTTHUMG00000037520 ENST00000338179.2:c.*751A>G chr1.hg19:g.225590254T>C NA B2R5P3|Q14740|Q53GU7|Q59FE6 hg19 CCDS1545.1 0.02 4.555443 AATxCAC COVERED NOVEL LBR-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000091398.1 0 5.414548 KEEP 0 0 0 18 535 TT 0.999859 0.999859 0 - 5 60 189 0 0 11.93705 134 60 4825 161 ENST00000338179.2 0.035971 1 EPHX1 2052 __UNKNOWN__ __UNKNOWN__ 1 226026406 226026406 __UNKNOWN__ Missense_Mutation SNP A A G rs2234922 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:226026406A>G ENST00000366837.4 + 4 612 c.416A>G c.(415-417)cAt>cGt p.H139R EPHX1_ENST00000272167.5_Missense_Mutation_p.H139R NM_000120.3 NP_000111.1 P07099 HYEP_HUMAN epoxide hydrolase 1, microsomal (xenobiotic) 139 NA H -> R (in allele EPHX1*4; 62% of wild type enzyme activity; dbSNP:rs2234922). {ECO:0000269|PubMed:11058921, ECO:0000269|PubMed:12173035, ECO:0000269|PubMed:7516776, ECO:0000269|Ref.8}. aromatic compound catabolic process (GO:0019439)|response to toxic substance (GO:0009636) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) cis-stilbene-oxide hydrolase activity (GO:0033961)|epoxide hydrolase activity (GO:0004301) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 28 Breast(184;0.197) CCCGCAGGCCATACCCCGAAG 0.607 NA G||| 1079 0.215455 0.3533 0.1427 5008 , , NA 16264 0.1181 NA 0.164 False NA ,,, NA NA NA 2504 0.2342 NA NA NA NA 0 GRCh37 CM024366 EPHX1 M rs2234922 G ARG/HIS,ARG/HIS 1484,2922 677.4+/-403.4 250,984,969 88 97 94 http://www.ncbi.nlm.nih.gov/sites/varvu?gene 416,416 2.5 0 1 dbSNP_98 94 1763,6837 734.5+/-406.9 191,1381,2728 yes missense,missense EPHX1 NM_000120.3,NM_001136018.2 29,29 441,2365,3697 GG,GA,AA 20.5,33.6813,24.9654 benign,benign 139/456,139/456 226026406 3247,9759 2203 4300 6503 SO:0001583 missense J03518 CCDS1547.1 1q42.1 2009-07-10 ENSG00000143819 ENSG00000143819 2052 3.3.2.9 3401 protein-coding gene gene with protein product 132810 EPHX NA 9925921 Standard NM_000120 NM_000120 NA Approved uc001hpk.3 P07099 OTTHUMG00000037743 ENST00000366837.4:c.416A>G chr1.hg19:g.226026406A>G ENSP00000355802:p.His139Arg NA B2R8N0|Q5VTJ6|Q9NP75|Q9NPE7|Q9NQU6|Q9NQU7|Q9NQU8|Q9NQU9|Q9NQV0|Q9NQV1|Q9NQV2 hg19 CCDS1547.1 0.02 10.039505 GCCxTAC COVERED 404 0.184981684981685 165 0.3353658536585366 50 0.13812154696132597 62 0.10839160839160839 127 0.16754617414248021 G 0.008 -1.918526 0.00498 0.336813 0.205 ENSG00000143819 ENST00000445856;ENST00000272167;ENST00000366837 T;T;T 0.03524 3.9;3.9;3.9 5.83 2.55 0.30701 Epoxide hydrolase, N-terminal (1); 0.550791 0.21311 N 0.076624 T 0.00012 0.0000 N 0.00841 -1.15 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.40478 -0.9561 9 0.12430 T 0.62 -11.8523 7.654 0.28365 0.5145:0.0:0.4855:0.0 rs2234922;rs59975602;rs2234922 139 P07099 HYEP_HUMAN R 139 ENSP00000398491:H139R;ENSP00000272167:H139R;ENSP00000355802:H139R ENSP00000272167:H139R H + 2 0 EPHX1 224093029 0.002000 0.14202 0.004000 0.12327 0.035000 0.12851 0.819000 0.27308 0.379000 0.24794 -0.227000 0.12334 CAT NOVEL EPHX1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000092064.1 0 35.95029 KEEP 0 2 67 143 4420 AA 1 1 0 + 10 60 321 0 0 18.289249 264 60 9548 512 ENST00000366837.4 0.036496 1 EPHX1 2052 __UNKNOWN__ __UNKNOWN__ 1 226032229 226032229 __UNKNOWN__ Silent SNP C C T rs1051741 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:226032229C>T ENST00000366837.4 + 8 1267 c.1071C>T c.(1069-1071)aaC>aaT p.N357N RP11-285F7.2_ENST00000424332.1_RNA|EPHX1_ENST00000272167.5_Silent_p.N357N NM_000120.3 NP_000111.1 P07099 HYEP_HUMAN epoxide hydrolase 1, microsomal (xenobiotic) 357 NA aromatic compound catabolic process (GO:0019439)|response to toxic substance (GO:0009636) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) cis-stilbene-oxide hydrolase activity (GO:0033961)|epoxide hydrolase activity (GO:0004301) p.N357N(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 28 Breast(184;0.197) TGCTGACCAACGTCATGCTCT 0.562 NA C||| 633 0.126398 0.1051 0.0591 5008 , , NA 20510 0.1141 NA 0.0895 False NA ,,, NA NA NA 2504 0.2536 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) C , 498,3908 232.0+/-245.7 37,424,1742 133 109 117 1071,1071 2.5 1 1 dbSNP_86 117 888,7712 199.6+/-243.6 60,768,3472 no coding-synonymous,coding-synonymous EPHX1 NM_000120.3,NM_001136018.2 , 97,1192,5214 TT,TC,CC 10.3256,11.3028,10.6566 , 357/456,357/456 226032229 1386,11620 2203 4300 6503 SO:0001819 synonymous_variant J03518 CCDS1547.1 1q42.1 2009-07-10 ENSG00000143819 ENSG00000143819 2052 3.3.2.9 3401 protein-coding gene gene with protein product 132810 EPHX NA 9925921 Standard NM_000120 NM_000120 NA Approved uc001hpk.3 P07099 OTTHUMG00000037743 ENST00000366837.4:c.1071C>T chr1.hg19:g.226032229C>T NA B2R8N0|Q5VTJ6|Q9NP75|Q9NPE7|Q9NQU6|Q9NQU7|Q9NQU8|Q9NQU9|Q9NQV0|Q9NQV1|Q9NQV2 hg19 CCDS1547.1 0.02 18.220948 CAAxGTC COVERED NOVEL EPHX1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000092064.1 2 36.322244 KEEP 0 1 29 131 4450 CC 1 1 0 + 12 60 448 0 0 26.767721 418 60 14581 712 ENST00000366837.4 0.027907 1 TMEM63A 9725 __UNKNOWN__ __UNKNOWN__ 1 226036309 226036309 __UNKNOWN__ Intron SNP A A G rs360063 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:226036309A>G ENST00000366835.3 - 23 2458 NM_014698.2 NP_055513.2 O94886 CSCL1_HUMAN transmembrane protein 63A NA NA ion transport (GO:0006811) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765) nucleotide binding (GO:0000166) breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 24 Breast(184;0.197) CTCTGTGAACAAACACCCTCC 0.502 NA G||| 3481 0.695088 0.826 0.5836 5008 , , NA 18248 0.6935 NA 0.5765 False NA ,,, NA NA NA 2504 0.7209 NA NA NA NA 0 G 1064,320 399,266,27 46 69 62 -5.4 0 1 dbSNP_79 62 1941,1241 579,783,229 no intron TMEM63A NM_014698.2 978,1049,256 GG,GA,AA 39.0006,23.1214,34.1875 226036309 3005,1561 692 1591 2283 SO:0001627 intron_variant CCDS31042.1 1q42.12 2008-02-05 2005-07-25 2005-07-25 ENSG00000196187 ENSG00000196187 9725 29118 protein-coding gene gene with protein product KIAA0792 KIAA0792 NA 9872452, 9455484 Standard NM_014698 NM_014698 NA Approved uc001hpm.2 O94886 OTTHUMG00000037442 ENST00000366835.3:c.2188-54T>C chr1.hg19:g.226036309A>G NA Q53GI7|Q5TE96|Q8N2U2 hg19 CCDS31042.1 0.02 13.70706 AACxAAC COVERED NOVEL TMEM63A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000091154.2 1 25.006849 KEEP 0 1 31 94 2927 AA 1 1 0 - 16 60 552 0 0 35.521059 294 60 10755 507 ENST00000366835.3 0.051613 1 TMEM63A 9725 __UNKNOWN__ __UNKNOWN__ 1 226044766 226044766 __UNKNOWN__ Intron SNP G G A rs9919303 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:226044766G>A ENST00000366835.3 - 16 1648 NM_014698.2 NP_055513.2 O94886 CSCL1_HUMAN transmembrane protein 63A NA NA ion transport (GO:0006811) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765) nucleotide binding (GO:0000166) breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 24 Breast(184;0.197) CGTGGGCCACGCGGCTCTGAG 0.582 NA G||| 2193 0.437899 0.5492 0.3141 5008 , , NA 16756 0.5179 NA 0.2624 False NA ,,, NA NA NA 2504 0.4734 NA NA NA NA 0 G 2063,2337 501,1061,638 32 33 32 -7.5 0 1 dbSNP_119 32 2482,6116 382,1718,2199 no intron TMEM63A NM_014698.2 883,2779,2837 AA,AG,GG 28.8672,46.8864,34.9669 226044766 4545,8453 2200 4299 6499 SO:0001627 intron_variant CCDS31042.1 1q42.12 2008-02-05 2005-07-25 2005-07-25 ENSG00000196187 ENSG00000196187 9725 29118 protein-coding gene gene with protein product KIAA0792 KIAA0792 NA 9872452, 9455484 Standard NM_014698 NM_014698 NA Approved uc001hpm.2 O94886 OTTHUMG00000037442 ENST00000366835.3:c.1378-49C>T chr1.hg19:g.226044766G>A NA Q53GI7|Q5TE96|Q8N2U2 hg19 CCDS31042.1 0.02 1.604725 CACxCGG COVERED NOVEL TMEM63A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000091154.2 0 8.728517 KEEP 0 0 0 29 1027 GG 0.999997 0.99899 0 - 4 60 135 0 0 8.560562 74 60 2727 133 ENST00000366835.3 0.051282 0.998993 TMEM63A 9725 __UNKNOWN__ __UNKNOWN__ 1 226053805 226053805 __UNKNOWN__ Intron SNP G G A rs7515156 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:226053805G>A ENST00000366835.3 - 10 946 TMEM63A_ENST00000474478.1_5'UTR|TMEM63A_ENST00000537914.1_Intron NM_014698.2 NP_055513.2 O94886 CSCL1_HUMAN transmembrane protein 63A NA NA ion transport (GO:0006811) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765) nucleotide binding (GO:0000166) breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 24 Breast(184;0.197) TTCTGTGGCCGGGGGAGCCCC 0.507 NA G||| 1526 0.304712 0.1475 0.2911 5008 , , NA 18596 0.4077 NA 0.2624 False NA ,,, NA NA NA 2504 0.4642 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS31042.1 1q42.12 2008-02-05 2005-07-25 2005-07-25 ENSG00000196187 ENSG00000196187 9725 29118 protein-coding gene gene with protein product KIAA0792 KIAA0792 NA 9872452, 9455484 Standard NM_014698 NM_014698 NA Approved uc001hpm.2 O94886 OTTHUMG00000037442 ENST00000366835.3:c.676-138C>T chr1.hg19:g.226053805G>A NA Q53GI7|Q5TE96|Q8N2U2 hg19 CCDS31042.1 0.02 2.194401 GCCxGGG COVERED NOVEL TMEM63A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000091154.2 1 6.621395 KEEP 0 0 0 22 761 GG 0.999879 0.998989 0 - 5 60 189 0 0 13.192843 74 60 2660 119 ENST00000366835.3 0.063291 0.99911 TMEM63A 9725 __UNKNOWN__ __UNKNOWN__ 1 226054714 226054714 __UNKNOWN__ Intron SNP G G A rs2292563 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:226054714G>A ENST00000366835.3 - 8 837 NM_014698.2 NP_055513.2 O94886 CSCL1_HUMAN transmembrane protein 63A NA NA ion transport (GO:0006811) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765) nucleotide binding (GO:0000166) breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 24 Breast(184;0.197) GATACCAGCCGGCCCCCTTTG 0.577 NA G||| 2352 0.469649 0.6589 0.3329 5008 , , NA 18629 0.5169 NA 0.2624 False NA ,,, NA NA NA 2504 0.4755 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS31042.1 1q42.12 2008-02-05 2005-07-25 2005-07-25 ENSG00000196187 ENSG00000196187 9725 29118 protein-coding gene gene with protein product KIAA0792 KIAA0792 NA 9872452, 9455484 Standard NM_014698 NM_014698 NA Approved uc001hpm.2 O94886 OTTHUMG00000037442 ENST00000366835.3:c.566+97C>T chr1.hg19:g.226054714G>A NA Q53GI7|Q5TE96|Q8N2U2 hg19 CCDS31042.1 0.02 2.197124 GCCxGCC COVERED NOVEL TMEM63A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000091154.2 0 4.512684 KEEP 0 0 0 15 463 GG 0.99649 0.995603 0 - 4 60 151 0 0 10.21204 72 60 2185 100 ENST00000366835.3 0.052632 0.99911 TMEM63A 9725 __UNKNOWN__ __UNKNOWN__ 1 226055595 226055595 __UNKNOWN__ Silent SNP G G A rs2292564 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:226055595G>A ENST00000366835.3 - 7 777 c.507C>T c.(505-507)gaC>gaT p.D169D NM_014698.2 NP_055513.2 O94886 CSCL1_HUMAN transmembrane protein 63A 169 NA ion transport (GO:0006811) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765) nucleotide binding (GO:0000166) p.D169D(1) breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 24 Breast(184;0.197) TACCCAGCAAGTCCCCTGAGA 0.547 NA G||| 2154 0.430112 0.5189 0.3127 5008 , , NA 19546 0.5188 NA 0.2624 False NA ,,, NA NA NA 2504 0.4744 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) G 1936,2470 549.9+/-377.9 427,1082,694 136 106 116 507 4.8 0.6 1 dbSNP_100 116 2486,6114 408.4+/-349.5 375,1736,2189 no coding-synonymous TMEM63A NM_014698.2 802,2818,2883 AA,AG,GG 28.907,43.9401,33.9997 169/808 226055595 4422,8584 2203 4300 6503 SO:0001819 synonymous_variant CCDS31042.1 1q42.12 2008-02-05 2005-07-25 2005-07-25 ENSG00000196187 ENSG00000196187 9725 29118 protein-coding gene gene with protein product KIAA0792 KIAA0792 NA 9872452, 9455484 Standard NM_014698 NM_014698 NA Approved uc001hpm.2 O94886 OTTHUMG00000037442 ENST00000366835.3:c.507C>T chr1.hg19:g.226055595G>A NA Q53GI7|Q5TE96|Q8N2U2 hg19 CCDS31042.1 0.02 1.681115 CAAxTCC COVERED NOVEL TMEM63A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000091154.2 1 9.932602 KEEP 0 0 0 33 1190 GG 0.999998 0.999879 0 - 7 60 246 0 0 17.190852 85 60 3203 148 ENST00000366835.3 0.076087 0.999881 LEFTY2 7044 __UNKNOWN__ __UNKNOWN__ 1 226125385 226125385 __UNKNOWN__ Missense_Mutation SNP G G A rs2295418 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:226125385G>A ENST00000366820.5 - 4 1205 c.857C>T c.(856-858)cCg>cTg p.P286L LEFTY2_ENST00000420304.2_Missense_Mutation_p.P252L NM_003240.3 NP_003231.2 O00292 LFTY2_HUMAN left-right determination factor 2 286 NA P -> L (in dbSNP:rs2295418). blood coagulation (GO:0007596)|cell growth (GO:0016049)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|transforming growth factor beta receptor signaling pathway (GO:0007179) extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|platelet alpha granule lumen (GO:0031093) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 16 Breast(184;0.197) CAGGAAGCCCGGGGGCTCCAG 0.647 NA G||| 256 0.0511182 0.0008 0.0504 5008 , , NA 15275 0.1052 NA 0.0308 False NA ,,, NA NA NA 2504 0.0849 NA NA NA Colon(172;116 2643 9098 43333) NA 0 G LEU/PRO,LEU/PRO 46,4360 46.7+/-81.2 0,46,2157 21 24 23 755,857 4.2 0.9 1 dbSNP_100 23 293,8307 103.1+/-164.3 8,277,4015 no missense,missense LEFTY2 NM_001172425.1,NM_003240.3 98,98 8,323,6172 AA,AG,GG 3.407,1.044,2.6065 probably-damaging,probably-damaging 252/333,286/367 226125385 339,12667 2203 4300 6503 SO:0001583 missense U81523 CCDS1549.1, CCDS53479.1 1q42.1 2008-07-18 2004-11-17 2004-11-17 ENSG00000143768 ENSG00000143768 7044 3122 protein-coding gene gene with protein product transforming growth factor, beta-4 (endometrial bleeding-associated factor; LEFTY A) 601877 endometrial bleeding associated factor (left-right determination, factor A; transforming growth factor beta superfamily) TGFB4, EBAF NA 9153275 Standard NM_003240 NM_001172425 NA Approved LEFTA, LEFTYA uc001hpt.2 O00292 OTTHUMG00000037441 ENST00000366820.5:c.857C>T chr1.hg19:g.226125385G>A ENSP00000355785:p.Pro286Leu NA B3KNH4|B4E332|E9PDM4|O75611|Q5TE89|Q8NBQ9 hg19 CCDS1549.1 0.02 4.269875 CCCxGGG COVERED 97 0.044413919413919416 1 0.0020325203252032522 14 0.03867403314917127 54 0.0944055944055944 28 0.036939313984168866 g 16.59 3.166005 0.57476 0.01044 0.03407 ENSG00000143768 ENST00000420304;ENST00000366820 T;T 0.63417 -0.04;-0.04 5.1 4.18 0.49190 Transforming growth factor beta, conserved site (1);Transforming growth factor-beta, C-terminal (3); 0.105282 0.64402 N 0.000004 T 0.13030 0.0316 M 0.73962 2.25 0.20563 P 0.999880306 D;D 0.89917 1.0;1.0 D;D 0.97110 1.0;1.0 T 0.64622 -0.6364 9 0.87932 D 0 . 13.5588 0.61777 0.077:0.0:0.923:0.0 rs2295418;rs52828121;rs2295418 252;286 E9PDM4;O00292 .;LFTY2_HUMAN L 252;286 ENSP00000388009:P252L;ENSP00000355785:P286L ENSP00000355785:P286L P - 2 0 LEFTY2 224192008 1.000000 0.71417 0.867000 0.34043 0.137000 0.21094 8.729000 0.91490 1.271000 0.44313 -0.258000 0.10820 CCG NOVEL LEFTY2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000091152.1 3 21.05007 KEEP 1 0 0 70 2320 GG 1 1 0 - 11 60 375 0 0 25.756024 138 60 4843 278 ENST00000366820.5 0.073826 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 226259804 226259804 __UNKNOWN__ IGR SNP T T C rs60311516 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:226259804T>C NA NA H3F3A (102 upstream) : RP11-396C23.2 (11535 downstream) NA NA NA GACGTGAGACTTATTGAGAGA 0.353 NA T||| 466 0.0930511 0.0779 0.1931 5008 , , NA 19132 0.0933 NA 0.0934 False NA ,,, NA NA NA 2504 0.0419 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.226259804T>C NA hg19 0.02 5.192501 GACxTAT COVERED NOVEL 0 1 4.514114 KEEP 0 0 0 15 488 TT 0.99649 0.996485 0 6 60 245 0 0 17.204659 106 60 3738 127 0.053571 0.999995 LIN9 286826 __UNKNOWN__ __UNKNOWN__ 1 226420654 226420654 __UNKNOWN__ Intron SNP G G A rs143048991 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:226420654G>A ENST00000328205.5 - 14 2117 LIN9_ENST00000481685.1_3'UTR|LIN9_ENST00000366801.1_Intron NM_173083.3 NP_775106.2 Q5TKA1 LIN9_HUMAN lin-9 DREAM MuvB core complex component NA NA DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|transcription, DNA-templated (GO:0006351) nucleoplasm (GO:0005654)|transcriptional repressor complex (GO:0017053) breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Breast(184;0.158) GBM - Glioblastoma multiforme(131;0.131) CCATAGGCTGGATATAAGTGA 0.313 NA G||| 13 0.00259585 0.0 0.0 5008 , , NA 16903 0.0129 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA Ovarian(197;1696 2974 11248 14117) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY166858 CCDS1553.1 1q42 2014-07-17 2014-07-17 ENSG00000183814 ENSG00000183814 286826 30830 protein-coding gene gene with protein product TUDOR gene similar, rb related pathway actor 609375 lin-9 homolog (C. elegans) NA 15538385, 23667535 Standard NM_173083 NM_173083 NA Approved TGS uc001hqa.3 Q5TKA1 OTTHUMG00000037557 ENST00000328205.5:c.1571+142C>T chr1.hg19:g.226420654G>A NA Q5U5L8|Q5U7E1|Q6PI55|Q6ZTV4|Q7Z3J1 hg19 CCDS1553.1 0.02 3.753933 CTGxATA COVERED NOVEL LIN9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000091523.2 2 6.257875 KEEP 0 0 0 21 681 GG 0.999869 0.999869 0 - 10 60 359 0 0 25.434327 118 60 4170 156 ENST00000328205.5 0.078125 1 PARP1 142 __UNKNOWN__ __UNKNOWN__ 1 226555302 226555302 __UNKNOWN__ Missense_Mutation SNP A A G rs1136410 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:226555302A>G ENST00000366794.5 - 17 2428 c.2285T>C c.(2284-2286)gTg>gCg p.V762A PARP1_ENST00000490921.1_5'UTR NM_001618.3 NP_001609.2 P09874 PARP1_HUMAN poly (ADP-ribose) polymerase 1 762 PARP alpha-helical. {ECO:0000255|PROSITE- ProRule:PRU00398}. NA V -> A (in dbSNP:rs1136410). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.5}. base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179) membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270) breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 44 Breast(184;0.133) GBM - Glioblastoma multiforme(131;0.0531) AAGCATTTCCACCTTGGCCTG 0.522 NA Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA A||| 986 0.196885 0.0371 0.3516 5008 , , NA 22171 0.4365 NA 0.1541 False NA ,,, NA NA NA 2504 0.1002 NA NA NA NA 0 GRCh37 CM042761 PARP1 M rs1136410 A ALA/VAL 233,4173 138.8+/-174.5 10,213,1980 106 93 98 2285 5.6 1 1 dbSNP_86 98 1371,7229 267.6+/-287.4 125,1121,3054 yes missense PARP1 NM_001618.3 64 135,1334,5034 GG,GA,AA 15.9419,5.2882,12.3328 possibly-damaging 762/1015 226555302 1604,11402 2203 4300 6503 SO:0001583 missense BC037545 CCDS1554.1 1q41-q42 2010-02-16 2008-07-28 2004-08-26 ENSG00000143799 ENSG00000143799 142 2.4.2.30 Poly (ADP-ribose) polymerases 270 protein-coding gene gene with protein product 173870 ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase), poly (ADP-ribose) polymerase family, member 1 PPOL, ADPRT NA 10964595 Standard NM_001618 NM_001618 NA Approved PARP uc001hqd.4 P09874 OTTHUMG00000037556 ENST00000366794.5:c.2285T>C chr1.hg19:g.226555302A>G ENSP00000355759:p.Val762Ala NA B1ANJ4|Q8IUZ9 hg19 CCDS1554.1 0.02 4.734393 TCCxCCT COVERED 533 0.24404761904761904 27 0.054878048780487805 119 0.3287292817679558 261 0.4562937062937063 126 0.1662269129287599 A 20.9 4.059621 0.76074 0.052882 0.159419 ENSG00000143799 ENST00000366794 T 0.12361 2.69 5.56 5.56 0.83823 Poly(ADP-ribose) polymerase, regulatory domain (4); 0.000000 0.85682 D 0.000000 T 0.00012 0.0000 M 0.69358 2.11 0.09310 P 1.0 P 0.40731 0.728 P 0.53649 0.731 T 0.53995 -0.8359 9 0.33141 T 0.24 . 15.7086 0.77606 1.0:0.0:0.0:0.0 rs1136410;rs1805412;rs3199701;rs11541665;rs16845751;rs17853760;rs59953823;rs1136410 762 P09874 PARP1_HUMAN A 762 ENSP00000355759:V762A ENSP00000355759:V762A V - 2 0 PARP1 224621925 1.000000 0.71417 1.000000 0.80357 0.993000 0.82548 8.957000 0.93082 2.122000 0.65172 0.533000 0.62120 GTG NOVEL PARP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000091519.1 1 9.328452 KEEP 0 0 0 31 984 AA 0.999997 0.999997 0 - 12 60 425 0 0 30.850471 118 60 4245 206 ENST00000366794.5 0.092308 1 PARP1 142 __UNKNOWN__ __UNKNOWN__ 1 226576270 226576270 __UNKNOWN__ Intron SNP A A G rs2255403 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:226576270A>G ENST00000366794.5 - 5 861 NM_001618.3 NP_001609.2 P09874 PARP1_HUMAN poly (ADP-ribose) polymerase 1 NA NA base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179) membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270) breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 44 Breast(184;0.133) GBM - Glioblastoma multiforme(131;0.0531) AATAAGTGGGACACAACTCCT 0.393 NA Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA A||| 1263 0.252196 0.1415 0.3559 5008 , , NA 20152 0.4841 NA 0.1541 False NA ,,, NA NA NA 2504 0.1902 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC037545 CCDS1554.1 1q41-q42 2010-02-16 2008-07-28 2004-08-26 ENSG00000143799 ENSG00000143799 142 2.4.2.30 Poly (ADP-ribose) polymerases 270 protein-coding gene gene with protein product 173870 ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase), poly (ADP-ribose) polymerase family, member 1 PPOL, ADPRT NA 10964595 Standard NM_001618 NM_001618 NA Approved PARP uc001hqd.4 P09874 OTTHUMG00000037556 ENST00000366794.5:c.717+86T>C chr1.hg19:g.226576270A>G NA B1ANJ4|Q8IUZ9 hg19 CCDS1554.1 0.02 9.184622 GGGxCAC COVERED NOVEL PARP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000091519.1 1 14.44417 KEEP 0 0 0 48 1551 AA 1 1 0 - 14 60 495 0 0 33.834041 198 60 7085 306 ENST00000366794.5 0.066038 1 PARP1 142 __UNKNOWN__ __UNKNOWN__ 1 226595647 226595647 __UNKNOWN__ 5'UTR SNP C C G rs907187 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:226595647C>G ENST00000366794.5 - 0 127 PARP1_ENST00000366792.1_5'UTR|PARP1_ENST00000366790.3_5'UTR|PARP1_ENST00000366791.5_5'UTR NM_001618.3 NP_001609.2 P09874 PARP1_HUMAN poly (ADP-ribose) polymerase 1 NA NA base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179) membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270) breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 44 Breast(184;0.133) GBM - Glioblastoma multiforme(131;0.0531) CTAGCTGCCGCCAAAGCTCCG 0.667 NA Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA C||| 997 0.199081 0.0371 0.353 5008 , , NA 9598 0.4375 NA 0.163 False NA ,,, NA NA NA 2504 0.1002 NA NA NA NA 0 C 218,4186 7,204,1991 24 25 25 2.8 0 1 dbSNP_86 25 1330,7264 116,1098,3083 no utr-5 PARP1 NM_001618.3 123,1302,5074 GG,GC,CC 15.4759,4.95,11.9095 226595647 1548,11450 2202 4297 6499 SO:0001623 5_prime_UTR_variant BC037545 CCDS1554.1 1q41-q42 2010-02-16 2008-07-28 2004-08-26 ENSG00000143799 ENSG00000143799 142 2.4.2.30 Poly (ADP-ribose) polymerases 270 protein-coding gene gene with protein product 173870 ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase), poly (ADP-ribose) polymerase family, member 1 PPOL, ADPRT NA 10964595 Standard NM_001618 NM_001618 NA Approved PARP uc001hqd.4 P09874 OTTHUMG00000037556 ENST00000366794.5:c.-17G>C chr1.hg19:g.226595647C>G NA B1ANJ4|Q8IUZ9 hg19 CCDS1554.1 0.02 19.01611 CCGxCAA COVERED NOVEL PARP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000091519.1 2 89.657542 KEEP 0 0 0 298 10672 CC 1 1 0 - 30 60 1108 0 0 77.610323 413 60 15470 1009 ENST00000366794.5 0.06772 1 ITPKB 3707 __UNKNOWN__ __UNKNOWN__ 1 226821920 226821920 __UNKNOWN__ 3'UTR SNP G G A rs41268731 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:226821920G>A ENST00000272117.3 - 0 3292 ITPKB_ENST00000429204.1_3'UTR P27987 IP3KB_HUMAN inositol-trisphosphate 3-kinase B NA NA cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829) ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440) central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1) 30 Prostate(94;0.0773) GAACCCGGCCGGCCCCCTGGG 0.647 NA OREG0014298 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) G||| 264 0.0527157 0.0106 0.1484 5008 , , NA 17256 0.0655 NA 0.0089 False NA ,,, NA NA NA 2504 0.0736 NA NA NA Colon(84;110 1851 5306 33547) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ242780 CCDS1555.1 1q42.12 2011-04-28 2011-04-28 ENSG00000143772 ENSG00000143772 3707 2.7.1.127 6179 protein-coding gene gene with protein product 147522 inositol 1,4,5-trisphosphate 3-kinase B NA 1654894, 1330886 Standard NM_002221 NM_002221 NA Approved IP3KB, IP3-3KB uc010pvo.2 P27987 OTTHUMG00000037582 ENST00000272117.3:c.*452C>T chr1.hg19:g.226821920G>A 2315 Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47 hg19 CCDS1555.1 0.02 16.203293 GCCxGCC COVERED NOVEL ITPKB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000091632.1 1 32.803364 KEEP 0 0 0 109 3754 GG 1 1 0 - 12 60 460 0 0 28.798333 354 60 12570 602 ENST00000272117.3 0.032787 1 ITPKB 3707 __UNKNOWN__ __UNKNOWN__ 1 226923384 226923384 __UNKNOWN__ Silent SNP G G A rs55822534 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:226923384G>A ENST00000272117.3 - 1 1775 c.1776C>T c.(1774-1776)aaC>aaT p.N592N ITPKB_ENST00000366784.1_Silent_p.N592N|ITPKB_ENST00000429204.1_Silent_p.N592N P27987 IP3KB_HUMAN inositol-trisphosphate 3-kinase B 592 NA cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829) ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440) central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1) 30 Prostate(94;0.0773) TCAGGGGCAGGTTGCCCCGAG 0.612 NA G||| 97 0.019369 0.0 0.0504 5008 , , NA 18606 0.0536 NA 0.0 False NA ,,, NA NA NA 2504 0.0082 NA NA NA Colon(84;110 1851 5306 33547) NA 0 G 1,4405 2.1+/-5.4 0,1,2202 57 53 54 1776 2.4 0.5 1 dbSNP_129 54 2,8598 2.2+/-6.3 0,2,4298 no coding-synonymous ITPKB NM_002221.3 0,3,6500 AA,AG,GG 0.0233,0.0227,0.0231 592/947 226923384 3,13003 2203 4300 6503 SO:0001819 synonymous_variant AJ242780 CCDS1555.1 1q42.12 2011-04-28 2011-04-28 ENSG00000143772 ENSG00000143772 3707 2.7.1.127 6179 protein-coding gene gene with protein product 147522 inositol 1,4,5-trisphosphate 3-kinase B NA 1654894, 1330886 Standard NM_002221 NM_002221 NA Approved IP3KB, IP3-3KB uc010pvo.2 P27987 OTTHUMG00000037582 ENST00000272117.3:c.1776C>T chr1.hg19:g.226923384G>A NA Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47 hg19 CCDS1555.1 0.02 8.336855 CAGxTTG COVERED NOVEL ITPKB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000091632.1 0 14.051839 KEEP 0 1 6 49 1760 GG 1 1 0 - 7 60 252 1 0 15.263741 200 60 7229 315 ENST00000272117.3 0.033816 1 ITPKB 3707 __UNKNOWN__ __UNKNOWN__ 1 226923396 226923396 __UNKNOWN__ Silent SNP G G A rs56095953 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:226923396G>A ENST00000272117.3 - 1 1763 c.1764C>T c.(1762-1764)agC>agT p.S588S ITPKB_ENST00000366784.1_Silent_p.S588S|ITPKB_ENST00000429204.1_Silent_p.S588S P27987 IP3KB_HUMAN inositol-trisphosphate 3-kinase B 588 NA cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829) ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440) central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1) 30 Prostate(94;0.0773) TGCCCCGAGGGCTTCCCTGCG 0.602 NA G||| 243 0.0485224 0.0015 0.1254 5008 , , NA 18720 0.0734 NA 0.0 False NA ,,, NA NA NA 2504 0.0818 NA NA NA Colon(84;110 1851 5306 33547) NA 0 G 9,4397 15.5+/-35.6 0,9,2194 54 49 51 1764 4.8 1 1 dbSNP_129 51 4,8596 3.7+/-12.6 0,4,4296 no coding-synonymous ITPKB NM_002221.3 0,13,6490 AA,AG,GG 0.0465,0.2043,0.1 588/947 226923396 13,12993 2203 4300 6503 SO:0001819 synonymous_variant AJ242780 CCDS1555.1 1q42.12 2011-04-28 2011-04-28 ENSG00000143772 ENSG00000143772 3707 2.7.1.127 6179 protein-coding gene gene with protein product 147522 inositol 1,4,5-trisphosphate 3-kinase B NA 1654894, 1330886 Standard NM_002221 NM_002221 NA Approved IP3KB, IP3-3KB uc010pvo.2 P27987 OTTHUMG00000037582 ENST00000272117.3:c.1764C>T chr1.hg19:g.226923396G>A NA Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47 hg19 CCDS1555.1 0.02 7.737571 AGGxCTT COVERED NOVEL ITPKB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000091632.1 0 15.349831 KEEP 0 0 0 51 1820 GG 1 1 0 - 7 60 244 0 0 14.147382 223 60 8088 343 ENST00000272117.3 0.030435 1 ITPKB 3707 __UNKNOWN__ __UNKNOWN__ 1 226924940 226924940 __UNKNOWN__ Missense_Mutation SNP C C T rs77775944 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:226924940C>T ENST00000272117.3 - 1 219 c.220G>A c.(220-222)Ggc>Agc p.G74S ITPKB_ENST00000366784.1_Missense_Mutation_p.G74S|ITPKB_ENST00000429204.1_Missense_Mutation_p.G74S P27987 IP3KB_HUMAN inositol-trisphosphate 3-kinase B 74 NA cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829) ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440) central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1) 30 Prostate(94;0.0773) CTCCGCCAGCCCCCGGGGCTC 0.721 NA C||| 243 0.0485224 0.0015 0.1254 5008 , , NA 10961 0.0734 NA 0.0 False NA ,,, NA NA NA 2504 0.0818 NA NA NA Colon(84;110 1851 5306 33547) NA 0 3 4 4 NA NA 1 NA 226924940 1423 3117 4540 SO:0001583 missense AJ242780 CCDS1555.1 1q42.12 2011-04-28 2011-04-28 ENSG00000143772 ENSG00000143772 3707 2.7.1.127 6179 protein-coding gene gene with protein product 147522 inositol 1,4,5-trisphosphate 3-kinase B NA 1654894, 1330886 Standard NM_002221 NM_002221 NA Approved IP3KB, IP3-3KB uc010pvo.2 P27987 OTTHUMG00000037582 ENST00000272117.3:c.220G>A chr1.hg19:g.226924940C>T ENSP00000272117:p.Gly74Ser NA Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47 hg19 CCDS1555.1 0.02 4.654151 AGCxCCC COVERED 74 0.03388278388278388 2 0.0040650406504065045 29 0.08011049723756906 43 0.07517482517482517 0 0.0 C 10.89 1.478104 0.26511 . . ENSG00000143772 ENST00000272117;ENST00000429204;ENST00000366784 T;T;T 0.20738 2.1;2.1;2.05 3.78 1.67 0.24075 . 0.520313 0.16382 N 0.216858 T 0.00468 0.0015 N 0.14661 0.345 0.31622 N 0.650156 B 0.23891 0.093 B 0.18561 0.022 T 0.29427 -1.0012 10 0.15066 T 0.55 . 4.6081 0.12387 0.0:0.5914:0.0:0.4086 . 74 P27987 IP3KB_HUMAN S 74 ENSP00000272117:G74S;ENSP00000411152:G74S;ENSP00000355748:G74S ENSP00000272117:G74S G - 1 0 ITPKB 224991563 0.003000 0.15002 0.999000 0.59377 0.851000 0.48451 -0.149000 0.10204 0.776000 0.33473 0.561000 0.74099 GGC NOVEL ITPKB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000091632.1 1 18.358463 KEEP 0 0 0 61 2132 CC 1 0.999984 0 - 5 60 189 0 0 12.579289 99 70 3662 204 ENST00000272117.3 0.048077 0.999984 CTD-2090I13.1 0 __UNKNOWN__ __UNKNOWN__ 1 227598121 227598121 __UNKNOWN__ lincRNA SNP T T C rs3014289 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:227598121T>C ENST00000445817.1 + 0 340 NA NA NA GAGAGAAGTGTTACTTTCAAC 0.378 NA T||| 1313 0.262181 0.1929 0.2522 5008 , , NA 15563 0.3651 NA 0.3111 False NA ,,, NA NA NA 2504 0.2065 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000445817.1: chr1.hg19:g.227598121T>C NA hg19 0.02 18.169945 GTGxTAC COVERED NOVEL CTD-2090I13.1-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000091688.1 3 11.733803 KEEP 0 0 0 39 1182 TT 1 1 0 + 20 60 748 0 0 49.604738 392 60 13928 543 ENST00000445817.1 0.048544 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 227621562 227621562 __UNKNOWN__ IGR SNP C C G rs112728080|rs202217148 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:227621562C>G NA NA CTD-2090I13.1 (2826 upstream) : RP11-275O4.3 (76734 downstream) NA NA NA gagagagagacagagagagag 0.532 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.227621562C>G NA hg19 0.02 -0.175444 AGAxAGA COVERED NOVEL 0 5 2.407804 KEEP 5 0 0 8 282 AC 0.99257 0.384528 0 4 60 132 2 0 10.862407 15 60 522 36 0.210526 0.387407 ZNF678 339500 __UNKNOWN__ __UNKNOWN__ 1 227814390 227814390 __UNKNOWN__ Intron SNP C C A rs2132367 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:227814390C>A ENST00000343776.5 + 2 182 ZNF678_ENST00000465266.1_Intron|ZNF678_ENST00000397097.3_Intron|ZNF678_ENST00000608949.1_Intron NM_178549.3 NP_848644.2 Q5SXM1 ZN678_HUMAN zinc finger protein 678 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1) 24 Prostate(94;0.0885) gcaaaccatgcgaggtgggtt 0.468 NA -||| 2570 0.513179 0.6346 0.4236 5008 , , NA 20899 0.5516 NA 0.4026 False NA ,,, NA NA NA 2504 0.4867 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC042500 1q42.13 2013-01-08 ENSG00000181450 ENSG00000181450 339500 Zinc fingers, C2H2-type, - 28652 protein-coding gene gene with protein product hypothetical protein MGC42493 NA 12477932 Standard NM_178549 NM_178549 NA Approved MGC42493 uc021pjy.1 Q5SXM1 OTTHUMG00000037700 ENST00000343776.5:c.-163-19855C>A chr1.hg19:g.227814390C>A NA Q8IVQ9 hg19 0.02 6.66865 ATGxGAG COVERED NOVEL ZNF678-001 KNOWN basic protein_coding NA protein_coding OTTHUMT00000091976.2 1 7.523155 KEEP 0 0 0 25 831 CC 0.999931 0.999931 0 + 6 60 217 0 0 13.475147 153 60 5153 211 ENST00000343776.5 0.037736 1 ZNF678 339500 __UNKNOWN__ __UNKNOWN__ 1 227838727 227838727 __UNKNOWN__ Missense_Mutation SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:227838727C>T ENST00000343776.5 + 3 380 c.35C>T c.(34-36)gCa>gTa p.A12V ZNF678_ENST00000465266.1_3'UTR|ZNF678_ENST00000397097.3_Intron|ZNF678_ENST00000608949.1_Missense_Mutation_p.A12V NM_178549.3 NP_848644.2 Q5SXM1 ZN678_HUMAN zinc finger protein 678 12 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1) 24 Prostate(94;0.0885) ggtgtctgtgcatttgaagga 0.373 NA NA NA NA NA NA NA NA NA NA NA 0 154 167 163 NA NA 1 NA 227838727 2203 4300 6503 SO:0001583 missense BC042500 1q42.13 2013-01-08 ENSG00000181450 ENSG00000181450 339500 Zinc fingers, C2H2-type, - 28652 protein-coding gene gene with protein product hypothetical protein MGC42493 NA 12477932 Standard NM_178549 NM_178549 NA Approved MGC42493 uc021pjy.1 Q5SXM1 OTTHUMG00000037700 ENST00000343776.5:c.35C>T chr1.hg19:g.227838727C>T ENSP00000344828:p.Ala12Val NA Q8IVQ9 hg19 0.02 18.94074 GTGxATT COVERED . . . . . . . . . . C 12.03 1.814369 0.32053 . . ENSG00000181450 ENST00000343776 T 0.06068 3.35 0.499 0.499 0.16914 . . . . . T 0.11324 0.0276 . . . 0.09310 N 0.999994 D 0.57571 0.98 P 0.53988 0.739 T 0.19549 -1.0302 7 0.51188 T 0.08 . . . . . 12 Q5SXM1 ZN678_HUMAN V 12 ENSP00000344828:A12V ENSP00000344828:A12V A + 2 0 ZNF678 225905350 0.065000 0.20965 0.162000 0.22713 0.155000 0.21991 -0.427000 0.06999 0.509000 0.28195 0.514000 0.50259 GCA NOVEL ZNF678-001 KNOWN basic protein_coding NA protein_coding OTTHUMT00000091976.2 2 17.15593 KEEP 0 0 0 57 2034 CC 1 1 0 + 14 60 518 0 0 31.247706 448 60 17055 615 ENST00000343776.5 0.030303 1 JMJD4 65094 __UNKNOWN__ __UNKNOWN__ 1 227919190 227919190 __UNKNOWN__ 3'UTR SNP G G A rs3088389 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:227919190G>A ENST00000366758.3 - 0 2294 SNAP47_ENST00000366760.1_Intron|SNAP47_ENST00000480897.1_Intron|JMJD4_ENST00000438896.2_3'UTR|JMJD4_ENST00000485807.1_5'UTR NM_023007.2 NP_075383.2 Q9H9V9 JMJD4_HUMAN jumonji domain containing 4 NA NA endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1) 9 Prostate(94;0.0885) AGGGCTGGGAGAGTGCCAGTC 0.602 NA g||| 1350 0.269569 0.4327 0.2248 5008 , , NA 18686 0.1558 NA 0.2475 False NA ,,, NA NA NA 2504 0.2209 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK022579 CCDS1561.1, CCDS59203.1 1q42.13 2008-02-05 ENSG00000081692 ENSG00000081692 65094 25724 protein-coding gene gene with protein product NA 12477932 Standard NM_023007 NM_023007 NA Approved FLJ12517 uc001hrb.3 Q9H9V9 OTTHUMG00000037698 ENST00000366758.3:c.*903C>T chr1.hg19:g.227919190G>A NA Q5TBZ1|Q5TBZ6|Q9H970 hg19 CCDS1561.1 0.02 5.636774 GGAxAGT COVERED NOVEL JMJD4-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000091970.1 0 17.456094 KEEP 0 0 0 58 2061 GG 1 1 0 - 6 60 215 0 0 12.706036 191 60 7199 313 ENST00000366758.3 0.030457 1 WNT3A 89780 __UNKNOWN__ __UNKNOWN__ 1 228247627 228247627 __UNKNOWN__ 3'UTR SNP C C G rs752109 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:228247627C>G ENST00000284523.1 + 0 1598 WNT3A_ENST00000366753.2_Intron NM_033131.3 NP_149122.1 P56704 WNT3A_HUMAN wingless-type MMTV integration site family, member 3A NA NA axis elongation involved in somitogenesis (GO:0090245)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:0061317)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cellular response to retinoic acid (GO:0071300)|COP9 signalosome assembly (GO:0010387)|dorsal/ventral neural tube patterning (GO:0021904)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|mammary gland development (GO:0030879)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron projection development (GO:0010977)|neuron differentiation (GO:0030182)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesodermal cell fate commitment (GO:0048343)|platelet aggregation (GO:0070527)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation (GO:2000081)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of collateral sprouting in absence of injury (GO:0048697)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dermatome development (GO:0061184)|positive regulation of mesodermal cell fate specification (GO:0048337)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of receptor internalization (GO:0002092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|regulation of microtubule cytoskeleton organization (GO:0070507)|skeletal muscle cell differentiation (GO:0035914)|spinal cord association neuron differentiation (GO:0021527)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874) cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578) frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription coactivator activity (GO:0003713) kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1) 12 Prostate(94;0.0405) GGATGGGGCACGGCTCTGGGG 0.652 NA G||| 88 0.0175719 0.0522 0.0043 5008 , , NA 10562 0.0139 NA 0.0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB060284 CCDS1564.1 1q42 2013-02-28 ENSG00000154342 ENSG00000154342 89780 Wingless-type MMTV integration sites, Endogenous ligands 15983 protein-coding gene gene with protein product 606359 NA 11414706 Standard NM_033131 NM_033131 NA Approved uc001hrq.2 P56704 OTTHUMG00000037593 ENST00000284523.1:c.*461C>G chr1.hg19:g.228247627C>G NA Q3SY79|Q3SY80|Q969P2 hg19 CCDS1564.1 0.02 4.461166 GCAxGGC COVERED NOVEL WNT3A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000091648.1 1 7.220512 KEEP 0 0 0 24 762 CC 0.999909 0.999909 0 + 5 60 191 0 0 12.336352 122 60 4129 198 ENST00000284523.1 0.03937 1 MRPL55 128308 __UNKNOWN__ __UNKNOWN__ 1 228295697 228295697 __UNKNOWN__ Intron SNP C C T rs76046017 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:228295697C>T ENST00000411464.2 - 4 820 MRPL55_ENST00000366732.1_Intron|MRPL55_ENST00000366746.3_Intron|MRPL55_ENST00000366744.1_Intron|MRPL55_ENST00000366733.1_Intron|MRPL55_ENST00000366735.1_Intron|MRPL55_ENST00000391867.3_Intron|MRPL55_ENST00000366747.3_Intron|MRPL55_ENST00000366736.1_Intron|MRPL55_ENST00000336520.3_Intron|MRPL55_ENST00000336300.5_Intron|MRPL55_ENST00000366741.1_Intron|MRPL55_ENST00000366739.1_Intron|MRPL55_ENST00000366734.1_Intron|MRPL55_ENST00000430433.1_Missense_Mutation_p.G39S|MRPL55_ENST00000465397.1_5'UTR|MRPL55_ENST00000366740.1_Intron|MRPL55_ENST00000366738.1_Missense_Mutation_p.G39S|MRPL55_ENST00000366742.1_Intron|MRPL55_ENST00000348259.5_Intron|MRPL55_ENST00000366731.5_Missense_Mutation_p.G39S|MRPL55_ENST00000295008.4_Intron Q7Z7F7 RM55_HUMAN mitochondrial ribosomal protein L55 NA NA translation (GO:0006412) mitochondrial large ribosomal subunit (GO:0005762) structural constituent of ribosome (GO:0003735) central_nervous_system(1)|lung(4) 5 Prostate(94;0.0405) TGACCCGTGCCGGGGCAGGAT 0.652 NA C||| 55 0.0109824 0.028 0.0029 5008 , , NA 17728 0.0139 NA 0.0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 28 37 35 NA NA 1 NA 228295697 692 1590 2282 SO:0001627 intron_variant AK056987 CCDS1567.1, CCDS44325.1 1q42.13 2012-09-13 ENSG00000162910 ENSG00000162910 128308 Mitochondrial ribosomal proteins / large subunits 16686 protein-coding gene gene with protein product 611859 NA Standard XM_059233 NM_181463 NA Approved uc001hrz.4 Q7Z7F7 OTTHUMG00000037965 ENST00000411464.2:c.27-127G>A chr1.hg19:g.228295697C>T NA Q5TBY3|Q5TBY6|Q6UWI8 hg19 CCDS1567.1 0.02 4.431576 TGCxGGG COVERED 22 0.010073260073260074 12 0.024390243902439025 1 0.0027624309392265192 9 0.015734265734265736 0 0.0 C 8.865 0.947764 0.18356 . . ENSG00000162910 ENST00000366738;ENST00000430433;ENST00000366731 T;T;T 0.40476 1.03;1.03;1.03 1.27 0.337 0.15966 . . . . . T 0.12902 0.0313 . . . 0.09310 N 1 B 0.12013 0.005 B 0.01281 0.0 T 0.14839 -1.0458 8 0.39692 T 0.17 . 3.6301 0.08128 0.0:0.7446:0.0:0.2554 . 39 Q7Z7F7-2 . S 39 ENSP00000355699:G39S;ENSP00000403614:G39S;ENSP00000355692:G39S ENSP00000355692:G39S G - 1 0 MRPL55 226362320 0.000000 0.05858 0.000000 0.03702 0.003000 0.03518 -1.754000 0.01816 0.133000 0.18654 0.597000 0.82753 GGC NOVEL MRPL55-203 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000092808.1 3 17.153366 KEEP 0 0 0 57 1899 CC 1 0.999998 0 - 5 60 186 0 0 11.981143 114 60 3979 207 ENST00000411464.2 0.042017 0.999998 GUK1 2987 __UNKNOWN__ __UNKNOWN__ 1 228336416 228336416 __UNKNOWN__ 3'UTR SNP C C T rs182734829 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:228336416C>T ENST00000366718.1 + 0 1039 GUK1_ENST00000366730.1_3'UTR|GUK1_ENST00000366716.1_3'UTR|GUK1_ENST00000366721.1_3'UTR|GUK1_ENST00000366726.1_3'UTR|GUK1_ENST00000366723.1_3'UTR|GUK1_ENST00000470040.1_3'UTR|GUK1_ENST00000391865.3_3'UTR|GUK1_ENST00000366728.2_Missense_Mutation_p.R197W|GUK1_ENST00000366722.1_Missense_Mutation_p.S230L|GUK1_ENST00000312726.4_3'UTR NM_001159391.1 NP_001152863.1 Q16774 KGUA_HUMAN guanylate kinase 1 NA NA ATP metabolic process (GO:0046034)|dATP metabolic process (GO:0046060)|dGDP biosynthetic process (GO:0006185)|dGMP metabolic process (GO:0046054)|drug metabolic process (GO:0017144)|GDP biosynthetic process (GO:0046711)|GDP-mannose metabolic process (GO:0019673)|glycoprotein transport (GO:0034436)|GMP metabolic process (GO:0046037)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleotide metabolic process (GO:0006163)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829) ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385) endometrium(2)|lung(5)|prostate(1)|soft_tissue(1) 9 Prostate(94;0.0405) TGTCTGTTCTCGGCACCCCGG 0.617 NA C||| 17 0.00339457 0.0 0.0 5008 , , NA 17551 0.0149 NA 0.0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 ,,,,TRP/ARG 2,4404 2.1+/-5.4 0,2,2201 43 41 42 ,,,,589 -0.2 0 1 42 5,8595 4.3+/-15.6 0,5,4295 no utr-3,utr-3,utr-3,utr-3,missense GUK1 NM_000858.5,NM_001159390.1,NM_001159391.1,NM_001242839.1,NM_001242840.1 ,,,,101 0,7,6496 TT,TC,CC 0.0581,0.0454,0.0538 ,,,, ,,,,197/242 228336416 7,12999 2203 4300 6503 SO:0001624 3_prime_UTR_variant BC006249 CCDS1568.1, CCDS53481.1, CCDS55689.1 1q32-q41 2012-10-02 ENSG00000143774 ENSG00000143774 2987 2.7.4.8 4693 protein-coding gene gene with protein product 139270 NA 8647247 Standard NM_000858 NM_000858 NA Approved uc021pkf.1 Q16774 OTTHUMG00000039503 ENST00000366718.1:c.*18C>T chr1.hg19:g.228336416C>T NA B1ANH1 hg19 CCDS1568.1 0.02 10.114668 TCTxGGC COVERED 10|10 0.004578754578754579|0.004578754578754579 0|0 0.0|0.0 0|0 0.0|0.0 10|10 0.017482517482517484|0.017482517482517484 0|0 0.0|0.0 c|c 14.72|14.72 2.621074|2.621074 0.46736|0.46736 4.54E-4|4.54E-4 5.81E-4|5.81E-4 ENSG00000143774|ENSG00000143774 ENST00000366728;ENST00000435153|ENST00000366722 .|T .|0.34667 .|1.35 2.85|2.85 -0.231|-0.231 0.13086|0.13086 .|. .|. .|. .|. .|. T|T 0.09379|0.09379 0.0231|0.0231 N|N 0.08118|0.08118 0|0 0.09310|0.09310 N|N 0.999999|0.999999 .|. .|. .|. .|. .|. .|. T|T 0.21008|0.21008 -1.0258|-1.0258 6|7 0.87932|0.87932 D|D 0|0 .|. 5.2207|5.2207 0.15368|0.15368 0.0:0.5525:0.0:0.4475|0.0:0.5525:0.0:0.4475 .|. .|. .|. .|. W|L 197;242|230 .|ENSP00000355683:S230L ENSP00000355689:R197W|ENSP00000355683:S230L R|S +|+ 1|2 2|0 GUK1|GUK1 226403039|226403039 0.000000|0.000000 0.05858|0.05858 0.000000|0.000000 0.03702|0.03702 0.004000|0.004000 0.04260|0.04260 0.040000|0.040000 0.13905|0.13905 -0.043000|-0.043000 0.13513|0.13513 0.457000|0.457000 0.33378|0.33378 CGG|TCG NOVEL GUK1-021 KNOWN alternative_5_UTR|basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000095944.1 1 38.185897 KEEP 0 0 0 127 4235 CC 1 1 0 + 11 60 378 0 0 22.785159 277 60 9416 498 ENST00000366718.1 0.038194 1 GUK1 2987 __UNKNOWN__ __UNKNOWN__ 1 228336518 228336518 __UNKNOWN__ 3'UTR SNP A A G rs15109 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:228336518A>G ENST00000366718.1 + 0 1141 GUK1_ENST00000366730.1_3'UTR|GUK1_ENST00000366716.1_3'UTR|GUK1_ENST00000366726.1_3'UTR|GUK1_ENST00000366723.1_3'UTR|GUK1_ENST00000470040.1_3'UTR|GUK1_ENST00000391865.3_3'UTR|GUK1_ENST00000366728.2_Missense_Mutation_p.R231G|GUK1_ENST00000312726.4_3'UTR NM_001159391.1 NP_001152863.1 Q16774 KGUA_HUMAN guanylate kinase 1 NA NA ATP metabolic process (GO:0046034)|dATP metabolic process (GO:0046060)|dGDP biosynthetic process (GO:0006185)|dGMP metabolic process (GO:0046054)|drug metabolic process (GO:0017144)|GDP biosynthetic process (GO:0046711)|GDP-mannose metabolic process (GO:0019673)|glycoprotein transport (GO:0034436)|GMP metabolic process (GO:0046037)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleotide metabolic process (GO:0006163)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829) ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385) endometrium(2)|lung(5)|prostate(1)|soft_tissue(1) 9 Prostate(94;0.0405) GGAGTGGAGGAGATGCTGCCC 0.657 NA G||| 58 0.0115815 0.0295 0.0029 5008 , , NA 15920 0.0149 NA 0.0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC006249 CCDS1568.1, CCDS53481.1, CCDS55689.1 1q32-q41 2012-10-02 ENSG00000143774 ENSG00000143774 2987 2.7.4.8 4693 protein-coding gene gene with protein product 139270 NA 8647247 Standard NM_000858 NM_000858 NA Approved uc021pkf.1 Q16774 OTTHUMG00000039503 ENST00000366718.1:c.*120A>G chr1.hg19:g.228336518A>G NA B1ANH1 hg19 CCDS1568.1 0.02 13.640321 AGGxGAT COVERED 24 0.01098901098901099 13 0.026422764227642278 1 0.0027624309392265192 10 0.017482517482517484 0 0.0 G 0.012 -1.665986 0.00765 . . ENSG00000143774 ENST00000366728 . . . 1.54 0.558 0.17266 . 1.353500 0.04860 N 0.443950 T 0.06554 0.0168 N 0.08118 0 0.09310 N 1 . . . . . . T 0.18335 -1.0340 7 0.87932 D 0 . 2.1897 0.03895 0.1988:0.0:0.4981:0.3032 rs15109;rs59971859;rs15109 . . . G 231 . ENSP00000355689:R231G R + 1 2 GUK1 226403141 0.000000 0.05858 0.000000 0.03702 0.025000 0.11179 -0.516000 0.06282 -0.152000 0.11156 -0.355000 0.07637 AGA NOVEL GUK1-021 KNOWN alternative_5_UTR|basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000095944.1 3 40.313748 KEEP 0 1 5 136 4119 AA 1 1 0 + 12 60 405 0 0 24.581353 306 60 10595 561 ENST00000366718.1 0.037736 1 IBA57 200205 __UNKNOWN__ __UNKNOWN__ 1 228363703 228363703 __UNKNOWN__ 3'UTR SNP A A G rs191426321 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:228363703A>G ENST00000366711.3 + 0 1562 IBA57_ENST00000484749.1_3'UTR NM_001010867.2 NP_001010867.1 Q5T440 CAF17_HUMAN IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae) NA NA glycine catabolic process (GO:0006546)|heme biosynthetic process (GO:0006783) mitochondrion (GO:0005739) aminomethyltransferase activity (GO:0004047)|poly(A) RNA binding (GO:0044822) central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1) 11 GGGTGGGGCTATGCGTGGTCT 0.597 NA A||| 16 0.00319489 0.0 0.0 5008 , , NA 17901 0.0149 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK022796 CCDS31046.1 1q42.13 2011-03-11 2011-03-11 2011-03-11 ENSG00000181873 ENSG00000181873 200205 27302 protein-coding gene gene with protein product iron-sulfur cluster assembly factor for biotin synthase- and aconitase-like mitochondrial proteins, with a mass of 57kDa 615316 chromosome 1 open reading frame 69 C1orf69 NA Standard NM_001010867 NM_001010867 NA Approved FLJ12734 uc001hsl.4 Q5T440 OTTHUMG00000039769 ENST00000366711.3:c.*489A>G chr1.hg19:g.228363703A>G NA hg19 CCDS31046.1 0.02 13.178208 GCTxTGC COVERED NOVEL IBA57-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000095980.1 4 24.068246 KEEP 0 0 0 80 2419 AA 1 1 0 + 11 60 406 0 0 24.992454 314 60 10851 481 ENST00000366711.3 0.033846 1 IBA57 200205 __UNKNOWN__ __UNKNOWN__ 1 228364568 228364568 __UNKNOWN__ 3'UTR SNP G G A rs74142625 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:228364568G>A ENST00000366711.3 + 0 2427 IBA57_ENST00000484749.1_3'UTR NM_001010867.2 NP_001010867.1 Q5T440 CAF17_HUMAN IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae) NA NA glycine catabolic process (GO:0006546)|heme biosynthetic process (GO:0006783) mitochondrion (GO:0005739) aminomethyltransferase activity (GO:0004047)|poly(A) RNA binding (GO:0044822) central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1) 11 AGGGAAGAGAGGGGCCGTCCA 0.627 NA A||| 26 0.00519169 0.0068 0.0 5008 , , NA 16548 0.0149 NA 0.0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK022796 CCDS31046.1 1q42.13 2011-03-11 2011-03-11 2011-03-11 ENSG00000181873 ENSG00000181873 200205 27302 protein-coding gene gene with protein product iron-sulfur cluster assembly factor for biotin synthase- and aconitase-like mitochondrial proteins, with a mass of 57kDa 615316 chromosome 1 open reading frame 69 C1orf69 NA Standard NM_001010867 NM_001010867 NA Approved FLJ12734 uc001hsl.4 Q5T440 OTTHUMG00000039769 ENST00000366711.3:c.*1354G>A chr1.hg19:g.228364568G>A NA hg19 CCDS31046.1 0.02 6.153383 AGAxGGG COVERED NOVEL IBA57-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000095980.1 1 12.938762 KEEP 0 0 0 43 1528 GG 1 1 0 + 9 60 322 0 0 21.432862 152 60 5600 260 ENST00000366711.3 0.055901 1 OBSCN 84033 __UNKNOWN__ __UNKNOWN__ 1 228403334 228403334 __UNKNOWN__ Silent SNP C C T rs193175485 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:228403334C>T ENST00000570156.2 + 6 1973 c.1899C>T c.(1897-1899)tcC>tcT p.S633S OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.S633S|OBSCN_ENST00000422127.1_Silent_p.S633S|OBSCN_ENST00000366707.4_5'UTR NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 633 Ig-like 6. NA apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018) ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432) NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) TCACTTTCTCCGTGGACCTCA 0.662 NA C||| 18 0.00359425 0.0 0.0 5008 , , NA 16271 0.0159 NA 0.0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 C , 1,4127 0,1,2063 48 58 55 1899,1899 -8.3 0.7 1 55 4,8406 0,4,4201 no coding-synonymous,coding-synonymous OBSCN NM_001098623.1,NM_052843.2 , 0,5,6264 TT,TC,CC 0.0476,0.0242,0.0399 , 633/7969,633/6621 228403334 5,12533 2064 4205 6269 SO:0001819 synonymous_variant AJ002535 CCDS1570.2, CCDS58065.1, CCDS59204.1 1q42 2014-09-17 ENSG00000154358 ENSG00000154358 84033 Rho guanine nucleotide exchange factors, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing 15719 protein-coding gene gene with protein product 608616 NA 11448995, 11814696 Standard NM_052843 NM_001098623 NA Approved KIAA1556, UNC89, KIAA1639, ARHGEF30 uc001hsq.2 Q5VST9 OTTHUMG00000039772 ENST00000570156.2:c.1899C>T chr1.hg19:g.228403334C>T NA Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6 hg19 CCDS59204.1 0.02 4.358639 CTCxGTG COVERED NOVEL OBSCN-011 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000421354.3 0 5.416762 KEEP 0 0 0 18 602 CC 0.999859 0.999856 0 + 5 60 185 0 0 11.958067 110 60 4051 157 ENST00000570156.2 0.043478 0.999997 OBSCN 84033 __UNKNOWN__ __UNKNOWN__ 1 228412308 228412308 __UNKNOWN__ Silent SNP G G A rs1757152 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:228412308G>A ENST00000570156.2 + 10 3152 c.3078G>A c.(3076-3078)tcG>tcA p.S1026S OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.S934S|OBSCN_ENST00000422127.1_Silent_p.S934S|OBSCN_ENST00000366707.4_5'UTR NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 1026 Ig-like 10. NA apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018) ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432) NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GCTCCAGCTCGAAAGTGTGCA 0.662 NA G||| 2066 0.41254 0.5885 0.402 5008 , , NA 19773 0.3839 NA 0.3678 False NA ,,, NA NA NA 2504 0.2577 NA NA NA NA 0 G , 2342,1864 643,1056,404 58 59 59 2802,2802 -9 0 1 dbSNP_89 59 3317,5133 663,1991,1571 no coding-synonymous,coding-synonymous OBSCN NM_001098623.1,NM_052843.2 , 1306,3047,1975 AA,AG,GG 39.2544,44.3176,44.714 , 934/7969,934/6621 228412308 5659,6997 2103 4225 6328 SO:0001819 synonymous_variant AJ002535 CCDS1570.2, CCDS58065.1, CCDS59204.1 1q42 2014-09-17 ENSG00000154358 ENSG00000154358 84033 Rho guanine nucleotide exchange factors, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing 15719 protein-coding gene gene with protein product 608616 NA 11448995, 11814696 Standard NM_052843 NM_001098623 NA Approved KIAA1556, UNC89, KIAA1639, ARHGEF30 uc001hsq.2 Q5VST9 OTTHUMG00000039772 ENST00000570156.2:c.3078G>A chr1.hg19:g.228412308G>A NA Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6 hg19 CCDS59204.1 0.02 6.729347 CTCxAAA COVERED NOVEL OBSCN-011 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000421354.3 2 12.396896 KEEP 0 2 62 63 2052 GG 1 1 0 + 10 60 359 0 0 24.036767 165 60 5643 283 ENST00000570156.2 0.057143 1 OBSCN 84033 __UNKNOWN__ __UNKNOWN__ 1 228447221 228447221 __UNKNOWN__ Silent SNP T T C rs187817295 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:228447221T>C ENST00000570156.2 + 17 4955 c.4881T>C c.(4879-4881)gcT>gcC p.A1627A OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000359599.6_Silent_p.A99A|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366707.4_Intron NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 615 Ig-like 17. NA apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018) ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432) NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CGGTGTTTGCTAAGGAGCAGC 0.632 NA T||| 18 0.00359425 0.0 0.0 5008 , , NA 21938 0.0159 NA 0.0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 T , 2,1750 0,2,874 75 67 70 , 3.4 1 1 70 2,3980 0,2,1989 no intron,intron OBSCN NM_001098623.1,NM_052843.2 , 0,4,2863 CC,CT,TT 0.0502,0.1142,0.0698 , , 228447221 4,5730 876 1991 2867 SO:0001819 synonymous_variant AJ002535 CCDS1570.2, CCDS58065.1, CCDS59204.1 1q42 2014-09-17 ENSG00000154358 ENSG00000154358 84033 Rho guanine nucleotide exchange factors, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing 15719 protein-coding gene gene with protein product 608616 NA 11448995, 11814696 Standard NM_052843 NM_001098623 NA Approved KIAA1556, UNC89, KIAA1639, ARHGEF30 uc001hsq.2 Q5VST9 OTTHUMG00000039772 ENST00000570156.2:c.4881T>C chr1.hg19:g.228447221T>C NA Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6 hg19 CCDS59204.1 0.02 6.703701 TGCxAAG COVERED NOVEL OBSCN-011 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000421354.3 0 10.530623 KEEP 0 0 0 35 1073 TT 0.999999 0.999999 0 + 10 60 369 0 0 25.572678 145 60 5278 232 ENST00000570156.2 0.064516 1 OBSCN 84033 __UNKNOWN__ __UNKNOWN__ 1 228471647 228471647 __UNKNOWN__ Intron SNP T T C rs192208708 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:228471647T>C ENST00000570156.2 + 38 10365 OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000359599.6_Intron NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF NA NA apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018) ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432) NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CGTGTGTTTATTTGGTCACTG 0.542 NA t||| 17 0.00339457 0.0 0.0 5008 , , NA 19433 0.0149 NA 0.0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ002535 CCDS1570.2, CCDS58065.1, CCDS59204.1 1q42 2014-09-17 ENSG00000154358 ENSG00000154358 84033 Rho guanine nucleotide exchange factors, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing 15719 protein-coding gene gene with protein product 608616 NA 11448995, 11814696 Standard NM_052843 NM_001098623 NA Approved KIAA1556, UNC89, KIAA1639, ARHGEF30 uc001hsq.2 Q5VST9 OTTHUMG00000039772 ENST00000570156.2:c.10291+177T>C chr1.hg19:g.228471647T>C NA Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6 hg19 CCDS59204.1 0.02 8.53406 TTAxTTG COVERED NOVEL OBSCN-011 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000421354.3 1 8.726113 KEEP 0 0 0 29 901 TT 0.999997 0.999997 0 + 7 60 254 0 0 15.155121 222 60 8087 305 ENST00000570156.2 0.030568 1 OBSCN 84033 __UNKNOWN__ __UNKNOWN__ 1 228509610 228509610 __UNKNOWN__ Missense_Mutation SNP C C T rs182318410 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:228509610C>T ENST00000570156.2 + 66 18013 c.17939C>T c.(17938-17940)cCg>cTg p.P5980L OBSCN_ENST00000366707.4_Missense_Mutation_p.P2657L|OBSCN_ENST00000284548.11_Missense_Mutation_p.P5023L|OBSCN_ENST00000366709.4_Missense_Mutation_p.P2142L|OBSCN_ENST00000422127.1_Missense_Mutation_p.P5023L NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 5023 PH. {ECO:0000255|PROSITE- ProRule:PRU00145}. NA apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018) ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432) NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) ACCAAAAGTCCGGCTGAAGTT 0.637 NA C||| 17 0.00339457 0.0 0.0 5008 , , NA 17596 0.0149 NA 0.0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 C LEU/PRO,LEU/PRO 2,3842 0,2,1920 24 27 26 15068,15068 5.1 0.3 1 26 4,8228 0,4,4112 yes missense,missense OBSCN NM_001098623.1,NM_052843.2 98,98 0,6,6032 TT,TC,CC 0.0486,0.052,0.0497 benign,benign 5023/7969,5023/6621 228509610 6,12070 1922 4116 6038 SO:0001583 missense AJ002535 CCDS1570.2, CCDS58065.1, CCDS59204.1 1q42 2014-09-17 ENSG00000154358 ENSG00000154358 84033 Rho guanine nucleotide exchange factors, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing 15719 protein-coding gene gene with protein product 608616 NA 11448995, 11814696 Standard NM_052843 NM_001098623 NA Approved KIAA1556, UNC89, KIAA1639, ARHGEF30 uc001hsq.2 Q5VST9 OTTHUMG00000039772 ENST00000570156.2:c.17939C>T chr1.hg19:g.228509610C>T ENSP00000455507:p.Pro5980Leu NA Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6 hg19 CCDS59204.1 0.02 13.076108 GTCxGGC COVERED 6 0.0027472527472527475 0 0.0 0 0.0 6 0.01048951048951049 0 0.0 C 13.12 2.141720 0.37825 5.2E-4 4.86E-4 ENSG00000154358 ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709 T;T;T;T 0.69806 0.02;-0.43;0.02;0.51 5.07 5.07 0.68467 . 0.372655 0.24678 N 0.036482 T 0.47395 0.1443 L 0.27053 0.805 0.21782 N 0.999542 B;P 0.36587 0.423;0.559 B;B 0.32022 0.066;0.139 T 0.56013 -0.8049 10 0.72032 D 0.01 . 18.4625 0.90745 0.0:1.0:0.0:0.0 . 5023;5023 Q5VST9;Q5VST9-3 OBSCN_HUMAN;. L 5023;5023;2657;2142 ENSP00000284548:P5023L;ENSP00000409493:P5023L;ENSP00000355668:P2657L;ENSP00000355670:P2142L ENSP00000284548:P5023L P + 2 0 OBSCN 226576233 0.989000 0.36119 0.322000 0.25334 0.004000 0.04260 6.967000 0.76079 2.359000 0.80004 0.655000 0.94253 CCG NOVEL OBSCN-011 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000421354.3 2 25.868266 KEEP 0 0 0 86 2884 CC 1 1 0 + 11 60 395 0 0 23.91411 314 60 11010 507 ENST00000570156.2 0.033846 1 OBSCN 84033 __UNKNOWN__ __UNKNOWN__ 1 228509733 228509733 __UNKNOWN__ Missense_Mutation SNP C C T rs56359770 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:228509733C>T ENST00000570156.2 + 66 18136 c.18062C>T c.(18061-18063)gCg>gTg p.A6021V OBSCN_ENST00000366707.4_Missense_Mutation_p.A2698V|OBSCN_ENST00000284548.11_Missense_Mutation_p.A5064V|OBSCN_ENST00000366709.4_Missense_Mutation_p.A2183V|OBSCN_ENST00000422127.1_Missense_Mutation_p.A5064V NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 5064 Ig-like 52. NA apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018) ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432) p.A5646V(1) NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CGTTTTGAGGCGCTCACTGAG 0.612 NA C||| 18 0.00359425 0.0008 0.0 5008 , , NA 19623 0.0149 NA 0.0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 1 Substitution - Missense(1) stomach(1) C VAL/ALA,VAL/ALA 5,4001 0,5,1998 27 30 29 15191,15191 3.2 0 1 dbSNP_129 29 4,8312 0,4,4154 yes missense,missense OBSCN NM_001098623.1,NM_052843.2 64,64 0,9,6152 TT,TC,CC 0.0481,0.1248,0.073 benign,benign 5064/7969,5064/6621 228509733 9,12313 2003 4158 6161 SO:0001583 missense AJ002535 CCDS1570.2, CCDS58065.1, CCDS59204.1 1q42 2014-09-17 ENSG00000154358 ENSG00000154358 84033 Rho guanine nucleotide exchange factors, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing 15719 protein-coding gene gene with protein product 608616 NA 11448995, 11814696 Standard NM_052843 NM_001098623 NA Approved KIAA1556, UNC89, KIAA1639, ARHGEF30 uc001hsq.2 Q5VST9 OTTHUMG00000039772 ENST00000570156.2:c.18062C>T chr1.hg19:g.228509733C>T ENSP00000455507:p.Ala6021Val NA Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6 hg19 CCDS59204.1 0.02 13.899474 AGGxGCT COVERED 6 0.0027472527472527475 0 0.0 0 0.0 6 0.01048951048951049 0 0.0 C 10.72 1.430599 0.25726 0.001248 4.81E-4 ENSG00000154358 ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709 T;T;T;T 0.61980 0.48;0.06;0.1;0.61 5.06 3.16 0.36331 . 0.885835 0.09789 N 0.755621 T 0.26340 0.0643 N 0.03608 -0.345 0.09310 N 1 B;B 0.19073 0.033;0.024 B;B 0.13407 0.004;0.009 T 0.17561 -1.0365 10 0.27082 T 0.32 . 3.7874 0.08705 0.3576:0.4694:0.0:0.1731 rs56359770 5064;5064 Q5VST9;Q5VST9-3 OBSCN_HUMAN;. V 5064;5064;2698;2183 ENSP00000284548:A5064V;ENSP00000409493:A5064V;ENSP00000355668:A2698V;ENSP00000355670:A2183V ENSP00000284548:A5064V A + 2 0 OBSCN 226576356 0.617000 0.27043 0.025000 0.17156 0.024000 0.10985 2.237000 0.43061 0.517000 0.28361 0.650000 0.86243 GCG NOVEL OBSCN-011 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000421354.3 2 15.649117 KEEP 0 0 0 52 1760 CC 1 1 0 + 13 60 461 0 0 28.940022 296 60 10371 438 ENST00000570156.2 0.042071 1 OBSCN 84033 __UNKNOWN__ __UNKNOWN__ 1 228548474 228548474 __UNKNOWN__ Intron SNP C C A rs184753761 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:228548474C>A ENST00000570156.2 + 91 21606 OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000284548.11_3'UTR|OBSCN_ENST00000422127.1_Intron NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF NA NA apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018) ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432) NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GCCATGGTGGCTTGGGGCAGC 0.672 NA C||| 17 0.00339457 0.0 0.0 5008 , , NA 18426 0.0149 NA 0.0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 C , 1,4163 0,1,2081 15 15 15 , 0.8 0 1 15 4,8392 0,4,4194 no intron,utr-3 OBSCN NM_001098623.1,NM_052843.2 , 0,5,6275 AA,AC,CC 0.0476,0.024,0.0398 , , 228548474 5,12555 2082 4198 6280 SO:0001627 intron_variant AJ002535 CCDS1570.2, CCDS58065.1, CCDS59204.1 1q42 2014-09-17 ENSG00000154358 ENSG00000154358 84033 Rho guanine nucleotide exchange factors, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing 15719 protein-coding gene gene with protein product 608616 NA 11448995, 11814696 Standard NM_052843 NM_001098623 NA Approved KIAA1556, UNC89, KIAA1639, ARHGEF30 uc001hsq.2 Q5VST9 OTTHUMG00000039772 ENST00000570156.2:c.21533-1803C>A chr1.hg19:g.228548474C>A NA Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6 hg19 CCDS59204.1 0.02 14.849894 TGGxTTG COVERED NOVEL OBSCN-011 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000421354.3 1 10.534364 KEEP 0 0 0 35 1281 CC 0.999999 0.999999 0 + 12 60 447 0 0 27.571954 349 60 13088 448 ENST00000570156.2 0.033241 1 OBSCN 84033 __UNKNOWN__ __UNKNOWN__ 1 228559933 228559933 __UNKNOWN__ Missense_Mutation SNP A A T rs186684024 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:228559933A>T ENST00000570156.2 + 105 24399 c.24325A>T c.(24325-24327)Acc>Tcc p.T8109S OBSCN_ENST00000366707.4_Missense_Mutation_p.T4786S|OBSCN_ENST00000422127.1_Missense_Mutation_p.T7152S NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 7152 NA apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018) ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432) NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GGAGGGCTGGACCCAGGAGGC 0.677 NA T||| 17 0.00339457 0.0 0.0 5008 , , NA 15791 0.0149 NA 0.0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 T SER/THR 1,4039 0,1,2019 11 12 12 21454 -2.5 0 1 12 4,8302 0,4,4149 yes missense OBSCN NM_001098623.1 58 0,5,6168 TT,TA,AA 0.0482,0.0248,0.0405 benign 7152/7969 228559933 5,12341 2020 4153 6173 SO:0001583 missense AJ002535 CCDS1570.2, CCDS58065.1, CCDS59204.1 1q42 2014-09-17 ENSG00000154358 ENSG00000154358 84033 Rho guanine nucleotide exchange factors, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing 15719 protein-coding gene gene with protein product 608616 NA 11448995, 11814696 Standard NM_052843 NM_001098623 NA Approved KIAA1556, UNC89, KIAA1639, ARHGEF30 uc001hsq.2 Q5VST9 OTTHUMG00000039772 ENST00000570156.2:c.24325A>T chr1.hg19:g.228559933A>T ENSP00000455507:p.Thr8109Ser NA Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6 hg19 CCDS59204.1 0.02 12.275767 TGGxCCC COVERED 6|6 0.0027472527472527475|0.0027472527472527475 0|0 0.0|0.0 0|0 0.0|0.0 6|6 0.01048951048951049|0.01048951048951049 0|0 0.0|0.0 T|T 15.26|15.26 2.781512|2.781512 0.49891|0.49891 2.48E-4|2.48E-4 4.82E-4|4.82E-4 ENSG00000154358|ENSG00000154358 ENST00000441106|ENST00000422127;ENST00000366707 .|T;T .|0.60920 .|0.15;0.19 4.43|4.43 -2.55|-2.55 0.06288|0.06288 .|. .|. .|. .|. .|. T|T 0.16342|0.16342 0.0393|0.0393 N|N 0.02539|0.02539 -0.55|-0.55 0.09310|0.09310 N|N 1|1 .|B .|0.02656 .|0.0 .|B .|0.01281 .|0.0 T|T 0.17048|0.17048 -1.0382|-1.0382 5|9 .|0.08179 .|T .|0.78 .|. 5.3461|5.3461 0.16010|0.16010 0.445:0.0:0.1647:0.3903|0.445:0.0:0.1647:0.3903 .|. .|7152 .|Q5VST9 .|OBSCN_HUMAN V|S 1768|7152;4786 .|ENSP00000409493:T7152S;ENSP00000355668:T4786S .|ENSP00000355668:T4786S D|T +|+ 2|1 0|0 OBSCN|OBSCN 226626556|226626556 0.000000|0.000000 0.05858|0.05858 0.000000|0.000000 0.03702|0.03702 0.072000|0.072000 0.16883|0.16883 -3.107000|-3.107000 0.00601|0.00601 -1.137000|-1.137000 0.02888|0.02888 -0.514000|-0.514000 0.04452|0.04452 GAC|ACC NOVEL OBSCN-011 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000421354.3 1 22.251905 KEEP 0 0 0 74 2324 AA 1 1 0 + 12 60 432 0 0 26.814558 302 60 10564 489 ENST00000570156.2 0.038217 1 OBSCN 84033 __UNKNOWN__ __UNKNOWN__ 1 228560289 228560289 __UNKNOWN__ Silent SNP A A G rs184132520 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:228560289A>G ENST00000570156.2 + 105 24755 c.24681A>G c.(24679-24681)ccA>ccG p.P8227P OBSCN_ENST00000366707.4_Silent_p.P4904P|OBSCN_ENST00000422127.1_Silent_p.P7270P NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 7270 NA apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018) ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432) NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) AGCCCACCCCATGGGAGGACA 0.662 NA A||| 17 0.00339457 0.0 0.0 5008 , , NA 16810 0.0149 NA 0.0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 A 0,3976 0,0,1988 13 16 15 21810 -9.3 0 1 15 4,8282 0,4,4139 no coding-synonymous OBSCN NM_001098623.1 0,4,6127 GG,GA,AA 0.0483,0.0,0.0326 7270/7969 228560289 4,12258 1988 4143 6131 SO:0001819 synonymous_variant AJ002535 CCDS1570.2, CCDS58065.1, CCDS59204.1 1q42 2014-09-17 ENSG00000154358 ENSG00000154358 84033 Rho guanine nucleotide exchange factors, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing 15719 protein-coding gene gene with protein product 608616 NA 11448995, 11814696 Standard NM_052843 NM_001098623 NA Approved KIAA1556, UNC89, KIAA1639, ARHGEF30 uc001hsq.2 Q5VST9 OTTHUMG00000039772 ENST00000570156.2:c.24681A>G chr1.hg19:g.228560289A>G NA Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6 hg19 CCDS59204.1 0.02 9.193462 CCCxTGG COVERED 6 0.0027472527472527475 0 0.0 0 0.0 6 0.01048951048951049 0 0.0 A 6.722 0.501968 0.12822 0.0 4.83E-4 ENSG00000154358 ENST00000441106 . . . 4.64 -9.28 0.00656 . . . . . T 0.16599 0.0399 . . . 0.09310 N 0.999998 . . . . . . T 0.12682 -1.0538 4 . . . . 6.5569 0.22466 0.1356:0.3633:0.4114:0.0897 . . . . V 1887 . . M + 1 0 OBSCN 226626912 0.000000 0.05858 0.000000 0.03702 0.006000 0.05464 -4.302000 0.00257 -3.076000 0.00252 -0.512000 0.04463 ATG NOVEL OBSCN-011 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000421354.3 1 16.549076 KEEP 0 0 0 55 1711 AA 1 1 0 + 8 60 294 0 0 17.909654 238 60 8479 366 ENST00000570156.2 0.03252 1 OBSCN 84033 __UNKNOWN__ __UNKNOWN__ 1 228566387 228566387 __UNKNOWN__ Missense_Mutation SNP G G A rs200919408 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:228566387G>A ENST00000570156.2 + 116 26737 c.26663G>A c.(26662-26664)cGg>cAg p.R8888Q OBSCN_ENST00000366707.4_Missense_Mutation_p.R5567Q|OBSCN_ENST00000422127.1_Missense_Mutation_p.R7933Q NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 7933 NA apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018) ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432) NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GCCTGTTCGCGGCCCGCGCCC 0.706 NA g||| 17 0.00339457 0.0 0.0 5008 , , NA 8493 0.0149 NA 0.0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 GLN/ARG 1,3743 0,1,1871 11 13 12 23798 -2.1 0 1 12 3,8071 0,3,4034 yes missense OBSCN NM_001098623.1 43 0,4,5905 AA,AG,GG 0.0372,0.0267,0.0338 possibly-damaging 7933/7969 228566387 4,11814 1872 4037 5909 SO:0001583 missense AJ002535 CCDS1570.2, CCDS58065.1, CCDS59204.1 1q42 2014-09-17 ENSG00000154358 ENSG00000154358 84033 Rho guanine nucleotide exchange factors, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing 15719 protein-coding gene gene with protein product 608616 NA 11448995, 11814696 Standard NM_052843 NM_001098623 NA Approved KIAA1556, UNC89, KIAA1639, ARHGEF30 uc001hsq.2 Q5VST9 OTTHUMG00000039772 ENST00000570156.2:c.26663G>A chr1.hg19:g.228566387G>A ENSP00000455507:p.Arg8888Gln NA Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6 hg19 CCDS59204.1 0.02 9.161789 CGCxGCC COVERED . . . . . . . . . . g 19.40 3.820072 0.71028 2.67E-4 3.72E-4 ENSG00000154358 ENST00000422127;ENST00000366707 T;T 0.40476 1.03;1.03 4.99 -2.11 0.07187 Protein kinase-like domain (1); 0.168049 0.40144 N 0.001175 T 0.14917 0.0360 N 0.05124 -0.11 0.43913 D 0.996554 B 0.10296 0.003 B 0.04013 0.001 T 0.14643 -1.0465 10 0.11485 T 0.65 . 6.7024 0.23232 0.6427:0.1323:0.225:0.0 . 7933 Q5VST9 OBSCN_HUMAN Q 7933;5567 ENSP00000409493:R7933Q;ENSP00000355668:R5567Q ENSP00000355668:R5567Q R + 2 0 OBSCN 226633010 0.012000 0.17670 0.032000 0.17829 0.352000 0.29268 -0.026000 0.12392 -0.229000 0.09854 0.177000 0.17058 CGG NOVEL OBSCN-011 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000421354.3 1 42.974006 KEEP 0 0 0 143 4846 GG 1 1 0 + 8 60 285 0 0 17.672562 196 60 6548 443 ENST00000570156.2 0.039216 1 TRIM17 51127 __UNKNOWN__ __UNKNOWN__ 1 228596802 228596802 __UNKNOWN__ Intron SNP G G C rs201251938 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:228596802G>C ENST00000366697.2 - 5 1840 RP11-245P10.4_ENST00000436779.1_RNA|TRIM17_ENST00000295033.3_Intron|TRIM17_ENST00000366698.2_Intron|TRIM17_ENST00000456946.2_Silent_p.A318A Q9Y577 TRI17_HUMAN tripartite motif containing 17 NA NA protein autoubiquitination (GO:0051865) intracellular (GO:0005622) ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1) 10 Prostate(94;0.0724) TGGCTTCCGAGGCTAGGGGGT 0.582 NA G||| 7 0.00139776 0.0 0.0 5008 , , NA 13922 0.006 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 44 56 53 NA NA 1 NA 228596802 692 1591 2283 SO:0001627 intron_variant AF156271 CCDS1571.1, CCDS44327.1 1q42 2013-01-09 2011-01-25 2001-11-30 ENSG00000162931 ENSG00000162931 51127 Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers 13430 protein-coding gene gene with protein product ring finger protein 16, RING finger protein terf, testis RING finger protein 606123 tripartite motif-containing 17 RNF16 NA 9792805, 10894938 Standard NM_016102 NM_016102 NA Approved terf, RBCC uc001hsv.3 Q9Y577 OTTHUMG00000039974 ENST00000366697.2:c.883+70C>G chr1.hg19:g.228596802G>C NA B4DVJ2|Q5VST8 hg19 CCDS1571.1 0.02 12.089853 CGAxGCT COVERED NOVEL TRIM17-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000096439.2 3 24.358339 KEEP 0 0 0 81 2820 GG 1 1 0 - 10 60 337 0 0 19.122363 314 60 11602 474 ENST00000366697.2 0.030864 1 TRIM17 51127 __UNKNOWN__ __UNKNOWN__ 1 228602660 228602660 __UNKNOWN__ Silent SNP G G C rs503203 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:228602660G>C ENST00000366697.2 - 1 1070 c.114C>G c.(112-114)gcC>gcG p.A38A TRIM17_ENST00000295033.3_Silent_p.A38A|TRIM17_ENST00000366698.2_Silent_p.A38A|TRIM17_ENST00000456946.2_Silent_p.A38A Q9Y577 TRI17_HUMAN tripartite motif containing 17 38 NA protein autoubiquitination (GO:0051865) intracellular (GO:0005622) ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1) 10 Prostate(94;0.0724) GCTGGATGCAGGCTCGGCAGA 0.597 NA C||| 1482 0.295927 0.6513 0.098 5008 , , NA 18452 0.3095 NA 0.1014 False NA ,,, NA NA NA 2504 0.1421 NA NA NA NA 0 C ,, 2358,2048 556.5+/-379.5 615,1128,460 35 31 33 114,114,114 1.4 0.5 1 dbSNP_83 33 824,7776 767.5+/-407.6 41,742,3517 no coding-synonymous,coding-synonymous,coding-synonymous TRIM17 NM_001024940.2,NM_001134855.1,NM_016102.3 ,, 656,1870,3977 CC,CG,GG 9.5814,46.4821,24.4656 ,, 38/478,38/344,38/478 228602660 3182,9824 2203 4300 6503 SO:0001819 synonymous_variant AF156271 CCDS1571.1, CCDS44327.1 1q42 2013-01-09 2011-01-25 2001-11-30 ENSG00000162931 ENSG00000162931 51127 Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers 13430 protein-coding gene gene with protein product ring finger protein 16, RING finger protein terf, testis RING finger protein 606123 tripartite motif-containing 17 RNF16 NA 9792805, 10894938 Standard NM_016102 NM_016102 NA Approved terf, RBCC uc001hsv.3 Q9Y577 OTTHUMG00000039974 ENST00000366697.2:c.114C>G chr1.hg19:g.228602660G>C NA B4DVJ2|Q5VST8 hg19 CCDS1571.1 0.02 13.19954 GCAxGCT COVERED NOVEL TRIM17-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000096439.2 4 25.279327 KEEP 0 0 0 84 2957 GG 1 1 0 - 14 60 505 0 0 32.40271 297 60 11151 486 ENST00000366697.2 0.045016 1 TRIM17 51127 __UNKNOWN__ __UNKNOWN__ 1 228602816 228602816 __UNKNOWN__ Splice_Site SNP T T C rs74141230 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:228602816T>C ENST00000366698.2 - 2 108 c.e2-2 TRIM17_ENST00000295033.3_Intron|TRIM17_ENST00000456946.2_Intron|TRIM17_ENST00000366697.2_5'UTR NM_016102.3 NP_057186.1 Q9Y577 TRI17_HUMAN tripartite motif containing 17 NA NA protein autoubiquitination (GO:0051865) intracellular (GO:0005622) ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1) 10 Prostate(94;0.0724) tgagggactctgGAGAGAGTT 0.607 NA T||| 204 0.0407348 0.1384 0.013 5008 , , NA 16907 0.006 NA 0.002 False NA ,,, NA NA NA 2504 0.0041 NA NA NA NA 0 T ,, 464,3660 18,428,1616 9 10 10 ,, 0.2 0 1 dbSNP_130 10 42,8068 3,36,4016 yes intron,intron,splice-3 TRIM17 NM_001024940.2,NM_001134855.1,NM_016102.3 ,, 21,464,5632 CC,CT,TT 0.5179,11.2512,4.136 ,, ,, 228602816 506,11728 2062 4055 6117 SO:0001630 splice_region_variant AF156271 CCDS1571.1, CCDS44327.1 1q42 2013-01-09 2011-01-25 2001-11-30 ENSG00000162931 ENSG00000162931 51127 Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers 13430 protein-coding gene gene with protein product ring finger protein 16, RING finger protein terf, testis RING finger protein 606123 tripartite motif-containing 17 RNF16 NA 9792805, 10894938 Standard NM_016102 NM_016102 NA Approved terf, RBCC uc001hsv.3 Q9Y577 OTTHUMG00000039974 ENST00000366698.2:c.41-2A>G chr1.hg19:g.228602816T>C NA B4DVJ2|Q5VST8 hg19 CCDS1571.1 0.02 9.344377 CTCxGGA COVERED NOVEL TRIM17-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000096437.2 4 14.13759 KEEP 0 0 0 47 1427 TT 1 1 0 Intron - 10 60 338 0 0 20.33482 241 60 8762 325 ENST00000366698.2 0.039841 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 228645782 228645782 __UNKNOWN__ IGR SNP A A G rs546151991 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:228645782A>G NA NA HIST3H2A (222 upstream) : HIST3H2BB (25 downstream) NA NA NA ACGTACAAATAGAGTTACTCC 0.478 NA A||| 1 0.000199681 0.0 0.0 5008 , , NA 18823 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 26 29 28 NA NA 1 NA 228645782 2203 4300 6503 SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.228645782A>G NA hg19 0.02 16.07348 AATxGAG COVERED NOVEL 0 3 59.278477 KEEP 0 0 0 197 6261 AA 1 1 0 11 60 408 0 0 24.737129 346 60 12478 713 0.030812 1 RNF187 149603 __UNKNOWN__ __UNKNOWN__ 1 228674978 228674978 __UNKNOWN__ 5'UTR SNP C C A rs372162441 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:228674978C>A ENST00000305943.7 + 0 217 NM_001010858.2 NP_001010858.2 Q5TA31 RN187_HUMAN ring finger protein 187 NA NA positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936) cytoplasm (GO:0005737)|nucleus (GO:0005634) ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) stomach(1) 1 CGGCCAGGACCTCCGGCTGCA 0.716 NA C||| 3 0.000599042 0.0 0.0 5008 , , NA 11129 0.003 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant BC008022 1q42.13 2010-07-14 2005-08-09 ENSG00000168159 ENSG00000168159 149603 RING-type (C3HC4) zinc fingers 27146 protein-coding gene gene with protein product 613754 NA 12477932 Standard NM_001010858 NM_001010858 NA Approved uc001htb.3 Q5TA31 OTTHUMG00000040043 ENST00000305943.7:c.-539C>A chr1.hg19:g.228674978C>A NA A6NL57|Q6P2J7|Q6PJR0 hg19 0.02 14.672095 GACxTCC COVERED NOVEL RNF187-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000096590.2 1 78.8545 KEEP 0 0 0 262 9332 CC 1 1 0 + 13 60 452 0 0 26.998409 357 60 13416 797 ENST00000305943.7 0.035135 1 RNF187 149603 __UNKNOWN__ __UNKNOWN__ 1 228680869 228680869 __UNKNOWN__ Missense_Mutation SNP C C G rs76967353 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:228680869C>G ENST00000305943.7 + 3 1027 c.272C>G c.(271-273)cCt>cGt p.P91R RNF187_ENST00000482739.2_3'UTR NM_001010858.2 NP_001010858.2 Q5TA31 RN187_HUMAN ring finger protein 187 200 NA positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936) cytoplasm (GO:0005737)|nucleus (GO:0005634) ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) stomach(1) 1 GAGGGGCTCCCTGAGGACGAG 0.612 NA C||| 24 0.00479233 0.0 0.0 5008 , , NA 17776 0.0218 NA 0.0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 48 53 52 NA NA 1 NA 228680869 692 1591 2283 SO:0001583 missense BC008022 1q42.13 2010-07-14 2005-08-09 ENSG00000168159 ENSG00000168159 149603 RING-type (C3HC4) zinc fingers 27146 protein-coding gene gene with protein product 613754 NA 12477932 Standard NM_001010858 NM_001010858 NA Approved uc001htb.3 Q5TA31 OTTHUMG00000040043 ENST00000305943.7:c.272C>G chr1.hg19:g.228680869C>G ENSP00000306396:p.Pro91Arg NA A6NL57|Q6P2J7|Q6PJR0 hg19 0.02 1.980617 TCCxTGA COVERED 10 0.004578754578754579 0 0.0 0 0.0 10 0.017482517482517484 0 0.0 c 0.181 -1.061799 0.01950 . . ENSG00000168159 ENST00000305943 . . . 3.79 0.616 0.17613 . 1.719330 0.03258 N 0.182879 T 0.10165 0.0249 N 0.08118 0 0.09310 N 1 B 0.22909 0.077 B 0.23018 0.043 T 0.15867 -1.0422 9 0.44086 T 0.13 -0.202 3.9813 0.09497 0.181:0.6181:0.0:0.2009 . 200 Q5TA31 RN187_HUMAN R 91 . ENSP00000306396:P91R P + 2 0 RNF187 226747492 0.000000 0.05858 0.000000 0.03702 0.007000 0.05969 -0.466000 0.06672 -0.000000 0.14550 -0.343000 0.07986 CCT NOVEL RNF187-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000096590.2 0 7.224081 KEEP 0 0 0 24 905 CC 0.999909 0.99979 0 + 6 60 214 0 0 14.635008 86 60 3298 163 ENST00000305943.7 0.065217 0.999881 RNF187 149603 __UNKNOWN__ __UNKNOWN__ 1 228681728 228681728 __UNKNOWN__ 3'UTR SNP A A G rs372114718 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:228681728A>G ENST00000305943.7 + 0 1278 RNF187_ENST00000482739.2_3'UTR NM_001010858.2 NP_001010858.2 Q5TA31 RN187_HUMAN ring finger protein 187 NA NA positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936) cytoplasm (GO:0005737)|nucleus (GO:0005634) ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) stomach(1) 1 TGTTTCAACAATGTCCATTTA 0.587 NA A||| 3 0.000599042 0.0 0.0 5008 , , NA 18829 0.003 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC008022 1q42.13 2010-07-14 2005-08-09 ENSG00000168159 ENSG00000168159 149603 RING-type (C3HC4) zinc fingers 27146 protein-coding gene gene with protein product 613754 NA 12477932 Standard NM_001010858 NM_001010858 NA Approved uc001htb.3 Q5TA31 OTTHUMG00000040043 ENST00000305943.7:c.*142A>G chr1.hg19:g.228681728A>G NA A6NL57|Q6P2J7|Q6PJR0 hg19 0.02 3.900977 ACAxTGT COVERED NOVEL RNF187-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000096590.2 1 3.308424 KEEP 0 0 0 11 321 AA 0.993072 0.993072 0 + 5 60 186 0 0 11.718495 129 60 4601 148 ENST00000305943.7 0.037313 1 RAB4A 5867 __UNKNOWN__ __UNKNOWN__ 1 229422193 229422193 __UNKNOWN__ Intron SNP T T C rs237764 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:229422193T>C ENST00000366690.4 + 2 239 RAB4A_ENST00000473894.1_Intron NM_004578.2 NP_004569.2 P20338 RAB4A_HUMAN RAB4A, member RAS oncogene family NA NA antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|regulation of endocytosis (GO:0030100)|small GTPase mediated signal transduction (GO:0007264) endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982) GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein transporter activity (GO:0008565) central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(1) 11 Breast(184;0.0858)|Ovarian(103;0.103) Prostate(94;0.178) TTCACAGCACTATTTTGAAGT 0.303 NA C||| 3041 0.607228 0.7209 0.6484 5008 , , NA 17815 0.494 NA 0.673 False NA ,,, NA NA NA 2504 0.4734 NA NA NA Esophageal Squamous(11;250 603 9619 16563) NA 0 C 3171,1209 1154,863,173 63 65 64 1.3 0 1 dbSNP_79 64 5562,3016 1814,1934,541 no intron RAB4A NM_004578.2 2968,2797,714 CC,CT,TT 35.1597,27.6027,32.6053 229422193 8733,4225 2190 4289 6479 SO:0001627 intron_variant BC004309 CCDS31050.1, CCDS73046.1 1q42-q43 2014-04-03 2002-02-28 ENSG00000168118 ENSG00000168118 5867 RAB, member RAS oncogene 9781 protein-coding gene gene with protein product 179511 RAB4 NA Standard NM_004578 NM_004578 NA Approved HRES-1/RAB4 uc001hth.4 P20338 OTTHUMG00000037627 ENST00000366690.4:c.32-40T>C chr1.hg19:g.229422193T>C NA Q5T7P7|Q9BQ44 hg19 CCDS31050.1 0.02 2.127731 CACxATT COVERED NOVEL RAB4A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000091727.3 0 9.32846 KEEP 0 0 0 31 979 TT 0.999997 0.999945 0 + 4 60 157 0 0 10.352847 94 60 3440 150 ENST00000366690.4 0.040816 0.999948 RAB4A 5867 __UNKNOWN__ __UNKNOWN__ 1 229438828 229438828 __UNKNOWN__ Intron SNP G G A rs237787 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:229438828G>A ENST00000366690.4 + 7 877 RAB4A_ENST00000473894.1_Intron NM_004578.2 NP_004569.2 P20338 RAB4A_HUMAN RAB4A, member RAS oncogene family NA NA antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|regulation of endocytosis (GO:0030100)|small GTPase mediated signal transduction (GO:0007264) endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982) GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein transporter activity (GO:0008565) central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(1) 11 Breast(184;0.0858)|Ovarian(103;0.103) Prostate(94;0.178) TGAAAAAGAGGGGATCCCAgc 0.552 NA A||| 3030 0.605032 0.7171 0.6455 5008 , , NA 15462 0.4921 NA 0.671 False NA ,,, NA NA NA 2504 0.4734 NA NA NA Esophageal Squamous(11;250 603 9619 16563) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC004309 CCDS31050.1, CCDS73046.1 1q42-q43 2014-04-03 2002-02-28 ENSG00000168118 ENSG00000168118 5867 RAB, member RAS oncogene 9781 protein-coding gene gene with protein product 179511 RAB4 NA Standard NM_004578 NM_004578 NA Approved HRES-1/RAB4 uc001hth.4 P20338 OTTHUMG00000037627 ENST00000366690.4:c.654+92G>A chr1.hg19:g.229438828G>A NA Q5T7P7|Q9BQ44 hg19 CCDS31050.1 0.02 4.065057 GAGxGGA COVERED NOVEL RAB4A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000091727.3 2 11.134935 KEEP 0 0 0 37 1255 GG 1 1 0 + 5 60 184 1 0 11.453489 133 60 4851 201 ENST00000366690.4 0.036232 1 TAF5L 27097 __UNKNOWN__ __UNKNOWN__ 1 229750343 229750343 __UNKNOWN__ Intron SNP T T G rs2273574 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:229750343T>G ENST00000366675.3 - 2 86 TAF5L_ENST00000477957.1_Intron|TAF5L_ENST00000258281.2_Intron|TAF5L_ENST00000366674.1_Intron NM_001025247.1 NP_001020418.1 O75529 TAF5L_HUMAN TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa NA NA chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366) STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276) sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1) 11 Breast(184;0.193)|Ovarian(103;0.249) Prostate(94;0.167) AGACCAGCCATGTGGCTAAGT 0.483 NA T||| 1316 0.26278 0.0893 0.2248 5008 , , NA 20558 0.3085 NA 0.3072 False NA ,,, NA NA NA 2504 0.4315 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF069736 CCDS1581.1, CCDS31051.1 1q42.11-q42.3 2013-01-10 2002-08-29 ENSG00000135801 ENSG00000135801 27097 WD repeat domain containing 17304 protein-coding gene gene with protein product PCAF associated factor 65 beta TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD NA 9674425, 11124703 Standard NM_014409 XM_005273100 NA Approved PAF65B uc001htq.3 O75529 OTTHUMG00000039463 ENST00000366675.3:c.3-111A>C chr1.hg19:g.229750343T>G NA Q5TDI5|Q5TDI6|Q8IW31 hg19 CCDS31051.1 0.02 16.258929 CCAxGTG COVERED NOVEL TAF5L-002 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000095230.1 3 19.259255 KEEP 0 0 0 64 2051 TT 1 1 0 - 25 60 910 0 0 63.171563 346 60 12734 477 ENST00000366675.3 0.067385 1 GALNT2 2590 __UNKNOWN__ __UNKNOWN__ 1 230313911 230313911 __UNKNOWN__ Intron SNP T T C rs678050 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:230313911T>C ENST00000366672.4 + 2 198 GALNT2_ENST00000543760.1_Intron|GALNT2_ENST00000541865.1_Intron NM_004481.3 NP_004472.1 Q10471 GALT2_HUMAN polypeptide N-acetylgalactosaminyltransferase 2 NA NA cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243) extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471) carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2) 32 Breast(184;0.193)|Ovarian(103;0.249) all_cancers(173;0.156)|Prostate(94;0.179) AACTGATGAATGAAGGTGTGC 0.458 NA t||| 1329 0.265375 0.4334 0.0908 5008 , , NA 19567 0.376 NA 0.171 False NA ,,, NA NA NA 2504 0.1452 NA NA NA NA 0 C 520,864 90,340,262 79 64 68 -0.3 0 1 dbSNP_83 68 498,2684 42,414,1135 no intron GALNT2 NM_004481.3 132,754,1397 CC,CT,TT 15.6505,37.5723,22.2952 230313911 1018,3548 692 1591 2283 SO:0001627 intron_variant BC041120 CCDS1582.1 1q41-q42 2014-03-13 2014-03-13 ENSG00000143641 ENSG00000143641 2590 2.4.1.41 Glycosyltransferase family 2 domain containing 4124 protein-coding gene gene with protein product polypeptide GalNAc transferase 2 602274 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2) NA 9592121, 7592619 Standard NM_004481 NM_004481 NA Approved GalNAc-T2 uc010pwa.1 Q10471 OTTHUMG00000037771 ENST00000366672.4:c.127-53T>C chr1.hg19:g.230313911T>C NA A8K1Y3|B7Z8V8|C5HU00|Q9NPY4 hg19 CCDS1582.1 0.02 4.164734 GAAxGAA COVERED NOVEL GALNT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000092158.1 0 17.449126 KEEP 0 0 0 58 1744 TT 1 0.999981 0 + 5 60 173 0 0 10.985018 99 60 3595 194 ENST00000366672.4 0.048077 0.999981 GALNT2 2590 __UNKNOWN__ __UNKNOWN__ 1 230372025 230372025 __UNKNOWN__ Intron SNP A A G rs3811487 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:230372025A>G ENST00000366672.4 + 5 545 GALNT2_ENST00000543760.1_Intron|GALNT2_ENST00000541865.1_Intron NM_004481.3 NP_004472.1 Q10471 GALT2_HUMAN polypeptide N-acetylgalactosaminyltransferase 2 NA NA cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243) extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471) carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2) 32 Breast(184;0.193)|Ovarian(103;0.249) all_cancers(173;0.156)|Prostate(94;0.179) CCAACATATGAGAATTTTCTA 0.488 NA A||| 712 0.142173 0.2859 0.0648 5008 , , NA 18004 0.1716 NA 0.0169 False NA ,,, NA NA NA 2504 0.1012 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC041120 CCDS1582.1 1q41-q42 2014-03-13 2014-03-13 ENSG00000143641 ENSG00000143641 2590 2.4.1.41 Glycosyltransferase family 2 domain containing 4124 protein-coding gene gene with protein product polypeptide GalNAc transferase 2 602274 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2) NA 9592121, 7592619 Standard NM_004481 NM_004481 NA Approved GalNAc-T2 uc010pwa.1 Q10471 OTTHUMG00000037771 ENST00000366672.4:c.474-74A>G chr1.hg19:g.230372025A>G NA A8K1Y3|B7Z8V8|C5HU00|Q9NPY4 hg19 CCDS1582.1 0.02 11.501473 ATGxGAA COVERED NOVEL GALNT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000092158.1 0 24.373417 KEEP 0 0 0 81 2594 AA 1 1 0 + 11 60 404 0 1 25.967488 244 60 9127 434 ENST00000366672.4 0.043137 1 GALNT2 2590 __UNKNOWN__ __UNKNOWN__ 1 230416044 230416044 __UNKNOWN__ 3'UTR SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:230416044G>A ENST00000366672.4 + 0 2628 GALNT2_ENST00000485438.1_3'UTR NM_004481.3 NP_004472.1 Q10471 GALT2_HUMAN polypeptide N-acetylgalactosaminyltransferase 2 NA NA cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243) extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471) carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2) 32 Breast(184;0.193)|Ovarian(103;0.249) all_cancers(173;0.156)|Prostate(94;0.179) CCTCGGCCCCGGCATCCCTGT 0.617 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC041120 CCDS1582.1 1q41-q42 2014-03-13 2014-03-13 ENSG00000143641 ENSG00000143641 2590 2.4.1.41 Glycosyltransferase family 2 domain containing 4124 protein-coding gene gene with protein product polypeptide GalNAc transferase 2 602274 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2) NA 9592121, 7592619 Standard NM_004481 NM_004481 NA Approved GalNAc-T2 uc010pwa.1 Q10471 OTTHUMG00000037771 ENST00000366672.4:c.*840G>A chr1.hg19:g.230416044G>A NA A8K1Y3|B7Z8V8|C5HU00|Q9NPY4 hg19 CCDS1582.1 0.02 9.075855 CCCxGCA COVERED NOVEL GALNT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000092158.1 1 36.414597 KEEP 0 0 0 121 4125 GG 1 1 0 + 10 60 324 0 0 19.32502 238 60 8248 471 ENST00000366672.4 0.040323 1 GALNT2 2590 __UNKNOWN__ __UNKNOWN__ 1 230416218 230416218 __UNKNOWN__ 3'UTR SNP T T C rs13728 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:230416218T>C ENST00000366672.4 + 0 2802 GALNT2_ENST00000485438.1_3'UTR|RP5-956O18.3_ENST00000414640.1_RNA NM_004481.3 NP_004472.1 Q10471 GALT2_HUMAN polypeptide N-acetylgalactosaminyltransferase 2 NA NA cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243) extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471) carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2) 32 Breast(184;0.193)|Ovarian(103;0.249) all_cancers(173;0.156)|Prostate(94;0.179) CATAGCTCTGTGTGAGCCAGC 0.468 NA T||| 2063 0.411941 0.4985 0.4121 5008 , , NA 19833 0.756 NA 0.159 False NA ,,, NA NA NA 2504 0.2004 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC041120 CCDS1582.1 1q41-q42 2014-03-13 2014-03-13 ENSG00000143641 ENSG00000143641 2590 2.4.1.41 Glycosyltransferase family 2 domain containing 4124 protein-coding gene gene with protein product polypeptide GalNAc transferase 2 602274 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2) NA 9592121, 7592619 Standard NM_004481 NM_004481 NA Approved GalNAc-T2 uc010pwa.1 Q10471 OTTHUMG00000037771 ENST00000366672.4:c.*1014T>C chr1.hg19:g.230416218T>C NA A8K1Y3|B7Z8V8|C5HU00|Q9NPY4 hg19 CCDS1582.1 0.02 6.086157 CTGxGTG COVERED NOVEL GALNT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000092158.1 1 12.335602 KEEP 0 0 0 41 1262 TT 1 1 0 + 7 60 241 0 0 14.599784 173 60 6226 260 ENST00000366672.4 0.038889 1 GALNT2 2590 __UNKNOWN__ __UNKNOWN__ 1 230416319 230416319 __UNKNOWN__ 3'UTR SNP A A C rs3213496 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:230416319A>C ENST00000366672.4 + 0 2903 GALNT2_ENST00000485438.1_3'UTR|RP5-956O18.3_ENST00000414640.1_RNA NM_004481.3 NP_004472.1 Q10471 GALT2_HUMAN polypeptide N-acetylgalactosaminyltransferase 2 NA NA cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243) extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471) carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2) 32 Breast(184;0.193)|Ovarian(103;0.249) all_cancers(173;0.156)|Prostate(94;0.179) TGAGCCCTGCACGCTGGGCCT 0.612 NA A||| 656 0.13099 0.0545 0.1499 5008 , , NA 15638 0.3224 NA 0.0437 False NA ,,, NA NA NA 2504 0.1135 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC041120 CCDS1582.1 1q41-q42 2014-03-13 2014-03-13 ENSG00000143641 ENSG00000143641 2590 2.4.1.41 Glycosyltransferase family 2 domain containing 4124 protein-coding gene gene with protein product polypeptide GalNAc transferase 2 602274 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2) NA 9592121, 7592619 Standard NM_004481 NM_004481 NA Approved GalNAc-T2 uc010pwa.1 Q10471 OTTHUMG00000037771 ENST00000366672.4:c.*1115A>C chr1.hg19:g.230416319A>C NA A8K1Y3|B7Z8V8|C5HU00|Q9NPY4 hg19 CCDS1582.1 0.02 2.062886 TGCxCGC COVERED NOVEL GALNT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000092158.1 1 5.716347 KEEP 0 0 0 19 566 AA 0.99986 0.999767 0 + 5 60 183 0 0 12.205502 89 60 3115 118 ENST00000366672.4 0.053191 0.999907 GALNT2 2590 __UNKNOWN__ __UNKNOWN__ 1 230416760 230416760 __UNKNOWN__ 3'UTR SNP A A G rs13490 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:230416760A>G ENST00000366672.4 + 0 3344 GALNT2_ENST00000485438.1_3'UTR|RP5-956O18.3_ENST00000414640.1_RNA NM_004481.3 NP_004472.1 Q10471 GALT2_HUMAN polypeptide N-acetylgalactosaminyltransferase 2 NA NA cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243) extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471) carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2) 32 Breast(184;0.193)|Ovarian(103;0.249) all_cancers(173;0.156)|Prostate(94;0.179) ACAGATGCTCAGTCTCAGAGA 0.637 NA A||| 2570 0.513179 0.6914 0.4654 5008 , , NA 17323 0.8462 NA 0.1918 False NA ,,, NA NA NA 2504 0.2935 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC041120 CCDS1582.1 1q41-q42 2014-03-13 2014-03-13 ENSG00000143641 ENSG00000143641 2590 2.4.1.41 Glycosyltransferase family 2 domain containing 4124 protein-coding gene gene with protein product polypeptide GalNAc transferase 2 602274 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2) NA 9592121, 7592619 Standard NM_004481 NM_004481 NA Approved GalNAc-T2 uc010pwa.1 Q10471 OTTHUMG00000037771 ENST00000366672.4:c.*1556A>G chr1.hg19:g.230416760A>G NA A8K1Y3|B7Z8V8|C5HU00|Q9NPY4 hg19 CCDS1582.1 0.02 8.056598 CTCxGTC COVERED NOVEL GALNT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000092158.1 1 15.612848 KEEP 0 2 69 76 2356 AA 1 1 0 + 9 60 308 0 0 19.126515 193 60 7099 330 ENST00000366672.4 0.044554 1 GALNT2 2590 __UNKNOWN__ __UNKNOWN__ 1 230417056 230417056 __UNKNOWN__ 3'UTR SNP G G C rs7544606 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:230417056G>C ENST00000366672.4 + 0 3640 GALNT2_ENST00000485438.1_3'UTR|RP5-956O18.3_ENST00000414640.1_RNA NM_004481.3 NP_004472.1 Q10471 GALT2_HUMAN polypeptide N-acetylgalactosaminyltransferase 2 NA NA cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243) extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471) carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2) 32 Breast(184;0.193)|Ovarian(103;0.249) all_cancers(173;0.156)|Prostate(94;0.179) CAGATGTGTTGTGAGTGGGCA 0.632 NA C||| 1443 0.288139 0.4085 0.2781 5008 , , NA 16410 0.3899 NA 0.1451 False NA ,,, NA NA NA 2504 0.1748 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC041120 CCDS1582.1 1q41-q42 2014-03-13 2014-03-13 ENSG00000143641 ENSG00000143641 2590 2.4.1.41 Glycosyltransferase family 2 domain containing 4124 protein-coding gene gene with protein product polypeptide GalNAc transferase 2 602274 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2) NA 9592121, 7592619 Standard NM_004481 NM_004481 NA Approved GalNAc-T2 uc010pwa.1 Q10471 OTTHUMG00000037771 ENST00000366672.4:c.*1852G>C chr1.hg19:g.230417056G>C NA A8K1Y3|B7Z8V8|C5HU00|Q9NPY4 hg19 CCDS1582.1 0.02 14.723926 GTTxTGA COVERED NOVEL GALNT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000092158.1 2 29.730963 KEEP 0 1 32 110 3887 GG 1 1 0 + 14 60 552 0 0 36.501186 328 60 12356 550 ENST00000366672.4 0.040936 1 GALNT2 2590 __UNKNOWN__ __UNKNOWN__ 1 230417664 230417664 __UNKNOWN__ 3'UTR SNP C C G rs7022 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:230417664C>G ENST00000366672.4 + 0 4248 GALNT2_ENST00000485438.1_3'UTR NM_004481.3 NP_004472.1 Q10471 GALT2_HUMAN polypeptide N-acetylgalactosaminyltransferase 2 NA NA cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243) extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471) carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2) 32 Breast(184;0.193)|Ovarian(103;0.249) all_cancers(173;0.156)|Prostate(94;0.179) CTTCTCTGTGCTGGTCCTTTC 0.388 NA G||| 2496 0.498403 0.7723 0.4409 5008 , , NA 15613 0.5694 NA 0.329 False NA ,,, NA NA NA 2504 0.2699 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC041120 CCDS1582.1 1q41-q42 2014-03-13 2014-03-13 ENSG00000143641 ENSG00000143641 2590 2.4.1.41 Glycosyltransferase family 2 domain containing 4124 protein-coding gene gene with protein product polypeptide GalNAc transferase 2 602274 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2) NA 9592121, 7592619 Standard NM_004481 NM_004481 NA Approved GalNAc-T2 uc010pwa.1 Q10471 OTTHUMG00000037771 ENST00000366672.4:c.*2460C>G chr1.hg19:g.230417664C>G NA A8K1Y3|B7Z8V8|C5HU00|Q9NPY4 hg19 CCDS1582.1 0.02 5.854234 GTGxTGG COVERED NOVEL GALNT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000092158.1 1 7.75791 KEEP 0 1 35 38 1321 CC 1 1 0 + 6 60 217 0 0 12.93363 189 60 7162 272 ENST00000366672.4 0.030769 1 TTC13 79573 __UNKNOWN__ __UNKNOWN__ 1 231042732 231042732 __UNKNOWN__ Silent SNP T T A rs3811502 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:231042732T>A ENST00000366661.4 - 23 2509 c.2502A>T c.(2500-2502)gtA>gtT p.V834V TTC13_ENST00000366662.4_Silent_p.V780V|TTC13_ENST00000414259.1_Silent_p.V781V NM_024525.4 NP_078801.3 Q8NBP0 TTC13_HUMAN tetratricopeptide repeat domain 13 834 NA central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 39 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) COAD - Colon adenocarcinoma(196;0.243) ACGTTTCTGATACTGATGGAA 0.358 NA T||| 2582 0.515575 0.4198 0.6556 5008 , , NA 15841 0.5446 NA 0.5338 False NA ,,, NA NA NA 2504 0.4969 NA NA NA NA 0 T , 1789,2617 528.6+/-372.4 353,1083,767 82 80 81 2340,2502 -2 0.9 1 dbSNP_107 81 4480,4120 589.4+/-392.5 1167,2146,987 no coding-synonymous,coding-synonymous TTC13 NM_001122835.2,NM_024525.4 , 1520,3229,1754 AA,AT,TT 47.907,40.6037,48.2008 , 780/807,834/861 231042732 6269,6737 2203 4300 6503 SO:0001819 synonymous_variant CCDS1588.1, CCDS44332.1, CCDS44332.2 1q42.2 2013-01-10 ENSG00000143643 ENSG00000143643 79573 Tetratricopeptide (TTC) repeat domain containing 26204 protein-coding gene gene with protein product NA Standard NM_024525 NM_024525 NA Approved FLJ22584 uc001huf.4 Q8NBP0 OTTHUMG00000037788 ENST00000366661.4:c.2502A>T chr1.hg19:g.231042732T>A NA B1AQI1|B1AQI2|Q8IVP8|Q8NBI0|Q8ND20 hg19 CCDS1588.1 0.02 20.122025 TGAxACT COVERED NOVEL TTC13-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000092229.2 1 22.199698 KEEP 0 1 35 86 2704 TT 1 1 0 - 15 60 534 0 0 31.064017 505 60 18178 703 ENST00000366661.4 0.028846 1 TTC13 79573 __UNKNOWN__ __UNKNOWN__ 1 231060736 231060736 __UNKNOWN__ Intron SNP T T C rs3748775 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:231060736T>C ENST00000366661.4 - 14 1596 TTC13_ENST00000366662.4_Intron|TTC13_ENST00000414259.1_Intron NM_024525.4 NP_078801.3 Q8NBP0 TTC13_HUMAN tetratricopeptide repeat domain 13 NA NA central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 39 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) COAD - Colon adenocarcinoma(196;0.243) GAAAGGAATATCGAGAAGAGT 0.453 NA T||| 2430 0.485224 0.3351 0.6297 5008 , , NA 20811 0.5565 NA 0.507 False NA ,,, NA NA NA 2504 0.4898 NA NA NA NA 0 T , 1486,2920 475.0+/-357.2 250,986,967 105 93 97 , -8.4 0 1 dbSNP_107 97 4307,4293 576.1+/-390.3 1086,2135,1079 no intron,intron TTC13 NM_001122835.2,NM_024525.4 , 1336,3121,2046 CC,CT,TT 49.9186,33.7267,44.541 , , 231060736 5793,7213 2203 4300 6503 SO:0001627 intron_variant CCDS1588.1, CCDS44332.1, CCDS44332.2 1q42.2 2013-01-10 ENSG00000143643 ENSG00000143643 79573 Tetratricopeptide (TTC) repeat domain containing 26204 protein-coding gene gene with protein product NA Standard NM_024525 NM_024525 NA Approved FLJ22584 uc001huf.4 Q8NBP0 OTTHUMG00000037788 ENST00000366661.4:c.1589-17A>G chr1.hg19:g.231060736T>C NA B1AQI1|B1AQI2|Q8IVP8|Q8NBI0|Q8ND20 hg19 CCDS1588.1 0.02 9.343225 ATAxCGA COVERED NOVEL TTC13-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000092229.2 2 8.726142 KEEP 0 0 0 29 942 TT 0.999997 0.999997 0 - 12 60 455 0 0 31.383397 193 60 7006 274 ENST00000366661.4 0.058537 1 TTC13 79573 __UNKNOWN__ __UNKNOWN__ 1 231067236 231067236 __UNKNOWN__ Intron SNP C C T rs11122624 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:231067236C>T ENST00000366661.4 - 11 1133 TTC13_ENST00000366662.4_Intron|TTC13_ENST00000414259.1_Intron NM_024525.4 NP_078801.3 Q8NBP0 TTC13_HUMAN tetratricopeptide repeat domain 13 NA NA central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 39 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) COAD - Colon adenocarcinoma(196;0.243) CAAAATGCTGCATTAGTATCA 0.408 NA C||| 2429 0.485024 0.3343 0.6297 5008 , , NA 20556 0.5565 NA 0.507 False NA ,,, NA NA NA 2504 0.4898 NA NA NA NA 0 C , 1474,2932 471.7+/-356.1 245,984,974 79 74 76 , -9.6 0 1 dbSNP_120 76 4308,4292 576.5+/-390.4 1086,2136,1078 no intron,intron TTC13 NM_001122835.2,NM_024525.4 , 1331,3120,2052 TT,TC,CC 49.907,33.4544,44.4564 , , 231067236 5782,7224 2203 4300 6503 SO:0001627 intron_variant CCDS1588.1, CCDS44332.1, CCDS44332.2 1q42.2 2013-01-10 ENSG00000143643 ENSG00000143643 79573 Tetratricopeptide (TTC) repeat domain containing 26204 protein-coding gene gene with protein product NA Standard NM_024525 NM_024525 NA Approved FLJ22584 uc001huf.4 Q8NBP0 OTTHUMG00000037788 ENST00000366661.4:c.1126-18G>A chr1.hg19:g.231067236C>T NA B1AQI1|B1AQI2|Q8IVP8|Q8NBI0|Q8ND20 hg19 CCDS1588.1 0.02 4.273392 CTGxATT COVERED NOVEL TTC13-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000092229.2 0 6.019834 KEEP 0 0 0 20 721 CC 0.999863 0.999863 0 - 5 60 189 0 0 11.968619 132 60 5079 184 ENST00000366661.4 0.036496 1 TRIM67 440730 __UNKNOWN__ __UNKNOWN__ 1 231355058 231355058 __UNKNOWN__ 3'UTR SNP C C T rs10864675 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:231355058C>T ENST00000444294.3 + 0 7076 TRIM67_ENST00000366652.2_Intron NM_001004342.3 NP_001004342.3 Q6ZTA4 TRI67_HUMAN tripartite motif containing 67 NA NA negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856) zinc ion binding (GO:0008270) breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(184;0.0871) all_cancers(173;0.189)|Prostate(94;0.167) aagtatctgtcgacattgcta 0.512 NA C||| 1320 0.263578 0.1157 0.3991 5008 , , NA 18038 0.3542 NA 0.2654 False NA ,,, NA NA NA 2504 0.272 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK126782 CCDS44333.1, CCDS73048.1 1q42.2 2014-02-17 2011-01-25 ENSG00000119283 ENSG00000119283 440730 Tripartite motif containing / Tripartite motif containing, Fibronectin type III domain containing, RING-type (C3HC4) zinc fingers 31859 protein-coding gene gene with protein product 610584 tripartite motif-containing 67 NA Standard NM_001004342 NM_001004342 NA Approved TNL uc009xfn.1 Q6ZTA4 OTTHUMG00000037958 ENST00000444294.3:c.*3872C>T chr1.hg19:g.231355058C>T NA Q5TER7|Q5TER8|Q7Z4K7 hg19 0.02 8.891792 TGTxGAC COVERED NOVEL TRIM67-003 NOVEL not_organism_supported|basic|appris_candidate protein_coding NA protein_coding OTTHUMT00000092851.2 0 7.523629 KEEP 0 0 0 25 850 CC 0.999931 0.999931 0 + 8 60 286 0 0 17.682107 202 60 7089 271 ENST00000444294.3 0.038095 1 TRIM67 440730 __UNKNOWN__ __UNKNOWN__ 1 231357102 231357102 __UNKNOWN__ 3'UTR SNP G G C rs3795653 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:231357102G>C ENST00000444294.3 + 0 9120 NM_001004342.3 NP_001004342.3 Q6ZTA4 TRI67_HUMAN tripartite motif containing 67 NA NA negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856) zinc ion binding (GO:0008270) breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(184;0.0871) all_cancers(173;0.189)|Prostate(94;0.167) GAAAACACGGGGGGTAGCGGG 0.458 NA G||| 1329 0.265375 0.2057 0.3588 5008 , , NA 16855 0.3234 NA 0.2485 False NA ,,, NA NA NA 2504 0.2372 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK126782 CCDS44333.1, CCDS73048.1 1q42.2 2014-02-17 2011-01-25 ENSG00000119283 ENSG00000119283 440730 Tripartite motif containing / Tripartite motif containing, Fibronectin type III domain containing, RING-type (C3HC4) zinc fingers 31859 protein-coding gene gene with protein product 610584 tripartite motif-containing 67 NA Standard NM_001004342 NM_001004342 NA Approved TNL uc009xfn.1 Q6ZTA4 OTTHUMG00000037958 ENST00000444294.3:c.*5916G>C chr1.hg19:g.231357102G>C NA Q5TER7|Q5TER8|Q7Z4K7 hg19 0.02 5.64603 CGGxGGG COVERED NOVEL TRIM67-003 NOVEL not_organism_supported|basic|appris_candidate protein_coding NA protein_coding OTTHUMT00000092851.2 1 8.427356 KEEP 0 0 0 28 992 GG 0.999997 0.999997 0 + 7 60 240 0 0 14.251733 188 60 6808 261 ENST00000444294.3 0.035897 1 TRIM67 440730 __UNKNOWN__ __UNKNOWN__ 1 231357109 231357109 __UNKNOWN__ 3'UTR SNP C C G rs3795652 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:231357109C>G ENST00000444294.3 + 0 9127 NM_001004342.3 NP_001004342.3 Q6ZTA4 TRI67_HUMAN tripartite motif containing 67 NA NA negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856) zinc ion binding (GO:0008270) breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(184;0.0871) all_cancers(173;0.189)|Prostate(94;0.167) CGGGGGGTAGCGGGGAGTGGT 0.443 NA G||| 1328 0.265176 0.2057 0.3602 5008 , , NA 16414 0.3264 NA 0.2455 False NA ,,, NA NA NA 2504 0.2352 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK126782 CCDS44333.1, CCDS73048.1 1q42.2 2014-02-17 2011-01-25 ENSG00000119283 ENSG00000119283 440730 Tripartite motif containing / Tripartite motif containing, Fibronectin type III domain containing, RING-type (C3HC4) zinc fingers 31859 protein-coding gene gene with protein product 610584 tripartite motif-containing 67 NA Standard NM_001004342 NM_001004342 NA Approved TNL uc009xfn.1 Q6ZTA4 OTTHUMG00000037958 ENST00000444294.3:c.*5923C>G chr1.hg19:g.231357109C>G NA Q5TER7|Q5TER8|Q7Z4K7 hg19 0.02 6.264847 TAGxGGG COVERED NOVEL TRIM67-003 NOVEL not_organism_supported|basic|appris_candidate protein_coding NA protein_coding OTTHUMT00000092851.2 1 7.819062 KEEP 0 0 0 26 845 CC 0.999957 0.999957 0 + 8 60 290 0 0 18.36583 185 60 6226 251 ENST00000444294.3 0.041451 1 C1orf131 128061 __UNKNOWN__ __UNKNOWN__ 1 231362923 231362923 __UNKNOWN__ Intron SNP G G A rs491182 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:231362923G>A ENST00000366649.2 - 4 536 C1orf131_ENST00000318906.2_Intron|C1orf131_ENST00000366651.3_Intron Q8NDD1 CA131_HUMAN chromosome 1 open reading frame 131 NA NA poly(A) RNA binding (GO:0044822) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1) 8 Breast(184;0.0871) all_cancers(173;0.2)|Prostate(94;0.183) TAATGACAGCGTACAGGAATA 0.418 NA G||| 1627 0.32488 0.2943 0.4222 5008 , , NA 21751 0.3502 NA 0.2922 False NA ,,, NA NA NA 2504 0.3047 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC062353 CCDS1591.2, CCDS73049.1 1q42.2 2012-06-27 ENSG00000143633 ENSG00000143633 128061 25332 protein-coding gene gene with protein product NA 12975309 Standard NM_152379 XM_005273051 NA Approved DKFZp547B1713 uc001hul.3 Q8NDD1 OTTHUMG00000038023 ENST00000366649.2:c.511-109C>T chr1.hg19:g.231362923G>A NA Q5TBI0|Q5TBI1|Q6P6B4|Q7Z6H5|Q8N432|Q96NM6 hg19 CCDS1591.2 0.02 4.657379 AGCxTAC COVERED NOVEL C1orf131-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000092864.1 0 3.912569 KEEP 0 0 0 13 442 GG 0.994391 0.994388 0 - 5 60 194 0 0 12.836353 111 60 4067 142 ENST00000366649.2 0.043103 0.999997 GNPAT 8443 __UNKNOWN__ __UNKNOWN__ 1 231401204 231401204 __UNKNOWN__ Intron SNP T T C rs6702011 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:231401204T>C ENST00000366647.4 + 5 865 GNPAT_ENST00000366646.3_Intron NM_014236.3 NP_055051.1 O15228 GNPAT_HUMAN glyceronephosphate O-acyltransferase NA NA cellular lipid metabolic process (GO:0044255)|cerebellum morphogenesis (GO:0021587)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|paranodal junction assembly (GO:0030913)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416) membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777) glycerone-phosphate O-acyltransferase activity (GO:0016287)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102) breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1) 23 Breast(184;0.0871) all_cancers(173;0.2)|Prostate(94;0.183) TTAAGCCATATTTTCTTCACT 0.353 NA T||| 1341 0.267772 0.2738 0.3718 5008 , , NA 17787 0.2411 NA 0.2306 False NA ,,, NA NA NA 2504 0.2515 NA NA NA NA 0 T 1297,3109 422.5+/-339.8 169,959,1075 70 72 71 2 0 1 dbSNP_116 71 2217,6383 362.4+/-332.7 278,1661,2361 no intron GNPAT NM_014236.3 447,2620,3436 CC,CT,TT 25.7791,29.4371,27.0183 231401204 3514,9492 2203 4300 6503 SO:0001627 intron_variant AF043937 CCDS1592.1 1q42 2008-02-05 ENSG00000116906 ENSG00000116906 8443 2.3.1.42 4416 protein-coding gene gene with protein product 602744 NA 9459311, 9536089 Standard NM_014236 NA Approved DHAPAT, DAPAT, DAP-AT uc001hup.4 O15228 OTTHUMG00000038024 ENST00000366647.4:c.696+38T>C chr1.hg19:g.231401204T>C NA B4DNM9|Q5TBH7|Q9BWC2 hg19 CCDS1592.1 0.02 6.51051 ATAxTTT COVERED NOVEL GNPAT-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000092871.1 1 2.54284 KEEP 0 1 33 20 652 TT 0.999869 0.999869 0 + 8 60 306 0 0 20.266838 169 60 6075 218 ENST00000366647.4 0.045198 1 DISC1 27185 __UNKNOWN__ __UNKNOWN__ 1 231830295 231830295 __UNKNOWN__ Missense_Mutation SNP G G A rs3738401 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:231830295G>A ENST00000602281.1 + 2 844 c.791G>A c.(790-792)cGg>cAg p.R264Q DISC1_ENST00000539444.1_Missense_Mutation_p.R264Q|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000317586.4_Missense_Mutation_p.R264Q|DISC1_ENST00000366633.3_Missense_Mutation_p.R264Q|DISC1_ENST00000537876.1_Missense_Mutation_p.R264Q|DISC1_ENST00000439617.2_Missense_Mutation_p.R264Q|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000535983.1_Missense_Mutation_p.R264Q|DISC1_ENST00000366636.4_Missense_Mutation_p.R264Q|TSNAX-DISC1_ENST00000602962.1_3'UTR NM_001164542.1|NM_001164544.1 NP_001158014.1|NP_001158016.1 Q9NRI5 DISC1_HUMAN disrupted in schizophrenia 1 264 Interaction with MAP1A. NA R -> Q (in dbSNP:rs3738401). {ECO:0000269|PubMed:10814723, ECO:0000269|PubMed:12573262, ECO:0000269|PubMed:9455484}. canonical Wnt signaling pathway (GO:0060070)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cerebral cortex radially oriented cell migration (GO:0021799)|microtubule cytoskeleton organization (GO:0000226)|mitochondrial calcium ion homeostasis (GO:0051560)|neuron migration (GO:0001764)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neuron projection development (GO:0010975)|regulation of synapse maturation (GO:0090128)|TOR signaling (GO:0031929) cell junction (GO:0030054)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|postsynaptic membrane (GO:0045211) breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 15 all_cancers(173;0.0208)|Prostate(94;0.0975) TGTCTCTCTCGGCCCTTCAGT 0.612 NA G||| 1163 0.232228 0.1172 0.3329 5008 , , NA 19997 0.2173 NA 0.339 False NA ,,, NA NA NA 2504 0.2219 NA NA NA NA 0 G GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,,GLN/ARG 648,3758 276.3+/-273.0 54,540,1609 46 52 50 http://www.ncbi.nlm.nih.gov/sites/varvu?gene 791,791,791,791,791,791,791,791,791,791,791,791,791,791,791,791,791,791,791,791,791,,791 -9.9 0 1 dbSNP_107 50 2734,5866 434.7+/-357.8 426,1882,1992 yes missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,intron,missense DISC1 NM_001012957.1,NM_001012958.1,NM_001012959.1,NM_001164537.1,NM_001164538.1,NM_001164539.1,NM_001164540.1,NM_001164541.1,NM_001164542.1,NM_001164544.1,NM_001164545.1,NM_001164546.1,NM_001164547.1,NM_001164548.1,NM_001164549.1,NM_001164550.1,NM_001164551.1,NM_001164552.1,NM_001164553.1,NM_001164554.1,NM_001164555.1,NM_001164556.1,NM_018662.2 43,43,43,43,43,43,43,43,43,43,43,43,43,43,43,43,43,43,43,43,43,,43 480,2422,3601 AA,AG,GG 31.7907,14.7072,26.0034 benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,,benign 264/833,264/370,264/679,264/887,264/804,264/756,264/733,264/696,264/682,264/663,264/580,264/560,264/560,264/552,264/548,264/430,264/424,264/388,264/388,264/376,264/357,,264/855 231830295 3382,9624 2203 4300 6503 SO:0001583 missense AF222980 CCDS31055.1, CCDS31056.1, CCDS53482.1, CCDS53483.1, CCDS53484.1, CCDS59205.1, CCDS59206.1, CCDS59207.1 1q42.1 2008-02-05 ENSG00000162946 ENSG00000162946 27185 2888 protein-coding gene gene with protein product 605210 NA 10814723 Standard NM_018662 NM_001164550 NA Approved uc010pxh.2 Q9NRI5 OTTHUMG00000037835 ENST00000602281.1:c.791G>A chr1.hg19:g.231830295G>A ENSP00000473425:p.Arg264Gln NA A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4 hg19 CCDS59205.1 0.02 11.370077 CTCxGCC COVERED 612 0.2802197802197802 68 0.13821138211382114 142 0.39226519337016574 147 0.256993006993007 255 0.33641160949868076 G 9.745 1.165955 0.21538 0.147072 0.317907 ENSG00000162946 ENST00000439617;ENST00000366637;ENST00000317586;ENST00000366636;ENST00000366638;ENST00000532576;ENST00000535983;ENST00000537876;ENST00000366633;ENST00000539444;ENST00000295051;ENST00000535944;ENST00000366632 T;T;T;T;T;T;T;T;T 0.24723 1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84 4.94 -9.87 0.00470 . 1.746570 0.02520 N 0.092507 T 0.00012 0.0000 N 0.01352 -0.895 0.80722 P 0.0 B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B 0.27559 0.001;0.025;0.068;0.012;0.009;0.181;0.025;0.068;0.009;0.025;0.001;0.004;0.002;0.025;0.026;0.004;0.026;0.026;0.009;0.001 B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B 0.12156 0.001;0.007;0.007;0.007;0.004;0.007;0.007;0.007;0.004;0.007;0.0;0.004;0.001;0.007;0.004;0.002;0.004;0.004;0.004;0.0 T 0.32402 -0.9908 9 0.25751 T 0.34 4.3858 1.7516 0.02973 0.1374:0.1906:0.3457:0.3262 rs3738401;rs52831689;rs57749630;rs3738401 264;264;264;264;264;264;264;264;264;264;264;264;264;264;264;264;264;264;264;264 C4P094;C4P0A3;C4P098;C4P0A1;C4P0A4;A6NLH2;C4P0A5;C4P095;C4P0B6;C4P0C4;C4P091;C4P0D2;C4P0D3;C4P0B1;Q5T409;C4P0D0;Q9NRI5-2;Q9NRI5;Q9NRI5-3;Q9NRI5-4 .;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;DISC1_HUMAN;.;. Q 264;264;264;264;264;264;264;264;264;264;264;264;115 ENSP00000403888:R264Q;ENSP00000320784:R264Q;ENSP00000355596:R264Q;ENSP00000443996:R264Q;ENSP00000440909:R264Q;ENSP00000355593:R264Q;ENSP00000440953:R264Q;ENSP00000295051:R264Q;ENSP00000441193:R264Q ENSP00000295051:R264Q R + 2 0 DISC1 229896918 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -1.466000 0.02355 -3.304000 0.00192 -1.288000 0.01363 CGG NOVEL DISC1-019 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000467451.1 0 24.97719 KEEP 0 0 0 83 2790 GG 1 1 0 + 8 60 304 0 0 18.291833 285 60 9545 445 ENST00000602281.1 0.027304 1 DISC1 27185 __UNKNOWN__ __UNKNOWN__ 1 231859181 231859181 __UNKNOWN__ 3'UTR SNP G G A rs11122324 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:231859181G>A ENST00000317586.4 + 0 1997 DISC1_ENST00000539444.1_Intron|DISC1_ENST00000366637.3_Intron|DISC1_ENST00000366633.3_Intron|DISC1_ENST00000537876.1_Intron|DISC1_ENST00000439617.2_Intron|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000535983.1_Intron|DISC1_ENST00000366636.4_Intron|TSNAX-DISC1_ENST00000602962.1_Intron|DISC1_ENST00000602281.1_Intron NM_001012958.1 NP_001012976.1 Q9NRI5 DISC1_HUMAN disrupted in schizophrenia 1 NA NA canonical Wnt signaling pathway (GO:0060070)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cerebral cortex radially oriented cell migration (GO:0021799)|microtubule cytoskeleton organization (GO:0000226)|mitochondrial calcium ion homeostasis (GO:0051560)|neuron migration (GO:0001764)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neuron projection development (GO:0010975)|regulation of synapse maturation (GO:0090128)|TOR signaling (GO:0031929) cell junction (GO:0030054)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|postsynaptic membrane (GO:0045211) breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 15 all_cancers(173;0.0208)|Prostate(94;0.0975) AGGTGCACTGGCTACGACCTT 0.443 NA g||| 1822 0.363818 0.4281 0.3689 5008 , , NA 20574 0.3472 NA 0.3698 False NA ,,, NA NA NA 2504 0.2843 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF222980 CCDS31055.1, CCDS31056.1, CCDS53482.1, CCDS53483.1, CCDS53484.1, CCDS59205.1, CCDS59206.1, CCDS59207.1 1q42.1 2008-02-05 ENSG00000162946 ENSG00000162946 27185 2888 protein-coding gene gene with protein product 605210 NA 10814723 Standard NM_018662 NM_001164550 NA Approved uc010pxh.2 Q9NRI5 OTTHUMG00000037835 ENST00000317586.4:c.*834G>A chr1.hg19:g.231859181G>A NA A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4 hg19 CCDS31056.1 0.02 6.196863 CTGxCTA COVERED NOVEL DISC1-005 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000092355.2 0 7.223346 KEEP 0 0 0 24 862 GG 0.999909 0.999909 0 + 6 60 215 0 0 12.805302 184 60 6841 265 ENST00000317586.4 0.031579 1 DISC1 27185 __UNKNOWN__ __UNKNOWN__ 1 231903010 231903010 __UNKNOWN__ Silent SNP C C T rs3738402 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:231903010C>T ENST00000602281.1 + 5 1446 c.1393C>T c.(1393-1395)Cta>Tta p.L465L DISC1_ENST00000539444.1_Silent_p.L465L|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000366633.3_Silent_p.L465L|DISC1_ENST00000537876.1_Silent_p.L465L|DISC1_ENST00000439617.2_Silent_p.L465L|DISC1_ENST00000602873.1_Silent_p.L115L|DISC1_ENST00000535983.1_Silent_p.L465L|DISC1_ENST00000366636.4_Silent_p.L465L|TSNAX-DISC1_ENST00000602962.1_3'UTR NM_001164542.1|NM_001164544.1 NP_001158014.1|NP_001158016.1 Q9NRI5 DISC1_HUMAN disrupted in schizophrenia 1 465 Interaction with TRAF3IP1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.|Required for localization to punctate cytoplasmic foci. NA canonical Wnt signaling pathway (GO:0060070)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cerebral cortex radially oriented cell migration (GO:0021799)|microtubule cytoskeleton organization (GO:0000226)|mitochondrial calcium ion homeostasis (GO:0051560)|neuron migration (GO:0001764)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neuron projection development (GO:0010975)|regulation of synapse maturation (GO:0090128)|TOR signaling (GO:0031929) cell junction (GO:0030054)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|postsynaptic membrane (GO:0045211) breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 15 all_cancers(173;0.0208)|Prostate(94;0.0975) AAAGCAGCAGCTACAGGTGAG 0.512 NA C||| 496 0.0990415 0.0575 0.1383 5008 , , NA 17514 0.2044 NA 0.0268 False NA ,,, NA NA NA 2504 0.093 NA NA NA NA 0 C ,,,,,,,,,,,,,,, 198,4208 125.3+/-162.5 6,186,2011 77 69 72 1393,1393,1489,1393,1393,,1393,1393,1393,1393,1393,1393,1393,1393,343,1393 -7.6 0 1 dbSNP_107 72 265,8335 102.3+/-163.5 1,263,4036 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,intron,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous DISC1 NM_001012957.1,NM_001012959.1,NM_001164537.1,NM_001164538.1,NM_001164539.1,NM_001164540.1,NM_001164541.1,NM_001164542.1,NM_001164544.1,NM_001164545.1,NM_001164546.1,NM_001164547.1,NM_001164548.1,NM_001164549.1,NM_001164556.1,NM_018662.2 ,,,,,,,,,,,,,,, 7,449,6047 TT,TC,CC 3.0814,4.4939,3.5599 ,,,,,,,,,,,,,,, 465/833,465/679,497/887,465/804,465/756,,465/696,465/682,465/663,465/580,465/560,465/560,465/552,465/548,115/202,465/855 231903010 463,12543 2203 4300 6503 SO:0001819 synonymous_variant AF222980 CCDS31055.1, CCDS31056.1, CCDS53482.1, CCDS53483.1, CCDS53484.1, CCDS59205.1, CCDS59206.1, CCDS59207.1 1q42.1 2008-02-05 ENSG00000162946 ENSG00000162946 27185 2888 protein-coding gene gene with protein product 605210 NA 10814723 Standard NM_018662 NM_001164550 NA Approved uc010pxh.2 Q9NRI5 OTTHUMG00000037835 ENST00000602281.1:c.1393C>T chr1.hg19:g.231903010C>T NA A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4 hg19 CCDS59205.1 0.02 4.159666 CAGxTAC COVERED NOVEL DISC1-019 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000467451.1 1 6.922417 KEEP 0 0 0 23 797 CC 0.999892 0.999892 0 + 6 60 222 0 0 14.126508 144 60 5398 215 ENST00000602281.1 0.04 1 DISC1 27185 __UNKNOWN__ __UNKNOWN__ 1 232002332 232002332 __UNKNOWN__ 3'UTR SNP C C G rs3081 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:232002332C>G ENST00000366636.4 + 0 2098 DISC1_ENST00000427560.1_Intron|DISC1_ENST00000366637.3_Intron|DISC1_ENST00000537876.1_Intron|DISC1_ENST00000439617.2_Intron|DISC1_ENST00000535983.1_Intron NM_001012959.1 NP_001012977.1 Q9NRI5 DISC1_HUMAN disrupted in schizophrenia 1 NA NA canonical Wnt signaling pathway (GO:0060070)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cerebral cortex radially oriented cell migration (GO:0021799)|microtubule cytoskeleton organization (GO:0000226)|mitochondrial calcium ion homeostasis (GO:0051560)|neuron migration (GO:0001764)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neuron projection development (GO:0010975)|regulation of synapse maturation (GO:0090128)|TOR signaling (GO:0031929) cell junction (GO:0030054)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|postsynaptic membrane (GO:0045211) breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 15 all_cancers(173;0.0208)|Prostate(94;0.0975) tgaggacagcctgcaggacac 0.453 NA C||| 211 0.0421326 0.0076 0.0375 5008 , , NA 16647 0.0724 NA 0.0437 False NA ,,, NA NA NA 2504 0.0593 NA NA NA NA 0 C ,,,,,,,,, 53,4353 53.6+/-89.4 1,51,2151 65 67 67 ,,,,,,,,, 0.7 0 1 dbSNP_36 67 458,8142 137.9+/-194.8 11,436,3853 no intron,utr-3,intron,intron,intron,intron,intron,intron,intron,intron DISC1 NM_001012957.1,NM_001012959.1,NM_001164537.1,NM_001164538.1,NM_001164540.1,NM_001164541.1,NM_001164542.1,NM_001164546.1,NM_001164547.1,NM_018662.2 ,,,,,,,,, 12,487,6004 GG,GC,CC 5.3256,1.2029,3.929 ,,,,,,,,, ,,,,,,,,, 232002332 511,12495 2203 4300 6503 SO:0001624 3_prime_UTR_variant AF222980 CCDS31055.1, CCDS31056.1, CCDS53482.1, CCDS53483.1, CCDS53484.1, CCDS59205.1, CCDS59206.1, CCDS59207.1 1q42.1 2008-02-05 ENSG00000162946 ENSG00000162946 27185 2888 protein-coding gene gene with protein product 605210 NA 10814723 Standard NM_018662 NM_001164550 NA Approved uc010pxh.2 Q9NRI5 OTTHUMG00000037835 ENST00000366636.4:c.*8C>G chr1.hg19:g.232002332C>G NA A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4 hg19 CCDS31055.1 0.02 12.86839 AGCxTGC COVERED NOVEL DISC1-006 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000092356.1 0 36.413931 KEEP 0 0 0 121 4306 CC 1 1 0 + 10 60 358 0 0 21.179527 316 60 11899 590 ENST00000366636.4 0.030675 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 232259468 232259468 __UNKNOWN__ IGR SNP A A T rs12064215 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:232259468A>T NA NA DISC1 (82450 upstream) : RP5-865N13.2 (36368 downstream) NA NA NA ctcaaaaagcacccccactga 0.483 NA A||| 3428 0.684505 0.8026 0.6268 5008 , , NA 18436 0.7768 NA 0.5209 False NA ,,, NA NA NA 2504 0.6391 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.232259468A>T NA hg19 0.02 -0.188868 AGCxCCC UNCOVERED NOVEL 0 0 3.610763 KEEP 19 0 0 12 373 AA 0 0 0 3 25 99 0 0 7.55895 19 40 516 67 0.136364 0.490544 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 232259487 232259487 __UNKNOWN__ IGR SNP C C T rs200843226 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:232259487C>T NA NA DISC1 (82469 upstream) : RP5-865N13.2 (36349 downstream) NA NA NA gagcaccttgcgacccccact 0.502 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.232259487C>T NA hg19 0.02 -0.166656 TTGxGAC UNCOVERED NOVEL 0 0 2.407749 KEEP 18 0 0 8 282 CG 0 0 0 7 24 254 0 0 23.310274 12 40 378 53 0.368421 0.353947 SIPA1L2 57568 __UNKNOWN__ __UNKNOWN__ 1 232539219 232539219 __UNKNOWN__ Missense_Mutation SNP C C T rs2275303 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:232539219C>T ENST00000366630.1 - 20 5273 c.4915G>A c.(4915-4917)Ggc>Agc p.G1639S SIPA1L2_ENST00000308942.4_Missense_Mutation_p.G695S|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.G1639S Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 1639 NA G -> S (in dbSNP:rs2275303). regulation of small GTPase mediated signal transduction (GO:0051056) GTPase activator activity (GO:0005096) NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) AACTCTTTGCCACTGCCTGGA 0.562 NA C||| 617 0.123203 0.0 0.072 5008 , , NA 17239 0.4593 NA 0.0089 False NA ,,, NA NA NA 2504 0.0971 NA NA NA NA 0 C SER/GLY 18,3958 0,18,1970 90 101 98 4915 2.1 0.2 1 dbSNP_100 98 52,8272 0,52,4110 yes missense SIPA1L2 NM_020808.3 56 0,70,6080 TT,TC,CC 0.6247,0.4527,0.5691 possibly-damaging 1639/1723 232539219 70,12230 1988 4162 6150 SO:0001583 missense AB037810 CCDS41474.1 1q42.2 2008-02-05 ENSG00000116991 ENSG00000116991 57568 23800 protein-coding gene gene with protein product 611609 NA Standard XM_045839 NM_020808 NA Approved KIAA1389 uc001hvg.3 Q9P2F8 OTTHUMG00000037820 ENST00000366630.1:c.4915G>A chr1.hg19:g.232539219C>T ENSP00000355589:p.Gly1639Ser NA Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6 hg19 CCDS41474.1 0.02 12.055211 TGCxACT COVERED 304 0.1391941391941392 0 0.0 23 0.06353591160220995 272 0.4755244755244755 9 0.011873350923482849 C 8.696 0.908662 0.17833 0.004527 0.006247 ENSG00000116991 ENST00000366630;ENST00000262861;ENST00000308942 T;T;T 0.29397 1.57;1.57;1.57 4.94 2.09 0.27110 . 0.953922 0.08825 N 0.888251 T 0.00012 0.0000 L 0.43152 1.355 0.31410 P 0.675603 B;B 0.23735 0.09;0.001 B;B 0.28385 0.089;0.002 T 0.47100 -0.9143 9 0.30078 T 0.28 -7.8586 10.1777 0.42948 0.0:0.7843:0.0:0.2157 rs2275303;rs52800362;rs2275303 1639;695 Q9P2F8;Q9P2F8-2 SI1L2_HUMAN;. S 1639;1639;695 ENSP00000355589:G1639S;ENSP00000262861:G1639S;ENSP00000309102:G695S ENSP00000262861:G1639S G - 1 0 SIPA1L2 230605842 0.993000 0.37304 0.186000 0.23195 0.689000 0.40095 1.823000 0.39062 0.309000 0.22966 -0.149000 0.13747 GGC NOVEL SIPA1L2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000092318.1 1 13.543258 KEEP 0 0 0 45 1555 CC 1 1 0 - 18 60 694 0 0 48.896566 265 60 9769 398 ENST00000366630.1 0.063604 1 SIPA1L2 57568 __UNKNOWN__ __UNKNOWN__ 1 232539412 232539412 __UNKNOWN__ Intron SNP T T C rs2275304 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:232539412T>C ENST00000366630.1 - 20 5175 SIPA1L2_ENST00000308942.4_Intron|SIPA1L2_ENST00000262861.4_Intron Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 NA NA regulation of small GTPase mediated signal transduction (GO:0051056) GTPase activator activity (GO:0005096) NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) TAAAATCTTTTCCCCCCTTCA 0.418 NA T||| 682 0.136182 0.0023 0.0937 5008 , , NA 20575 0.4593 NA 0.0517 False NA ,,, NA NA NA 2504 0.1012 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB037810 CCDS41474.1 1q42.2 2008-02-05 ENSG00000116991 ENSG00000116991 57568 23800 protein-coding gene gene with protein product 611609 NA Standard XM_045839 NM_020808 NA Approved KIAA1389 uc001hvg.3 Q9P2F8 OTTHUMG00000037820 ENST00000366630.1:c.4817-95A>G chr1.hg19:g.232539412T>C NA Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6 hg19 CCDS41474.1 0.02 6.97855 TTTxCCC COVERED NOVEL SIPA1L2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000092318.1 1 5.65331 KEEP 0 0 0 19 526 TT 0.99986 0.99986 0 - 7 60 260 0 0 16.902123 151 60 4988 203 ENST00000366630.1 0.044304 1 SIPA1L2 57568 __UNKNOWN__ __UNKNOWN__ 1 232551416 232551416 __UNKNOWN__ Intron SNP G G A rs12569188 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:232551416G>A ENST00000366630.1 - 18 4989 SIPA1L2_ENST00000308942.4_Intron|SIPA1L2_ENST00000262861.4_Intron Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 NA NA regulation of small GTPase mediated signal transduction (GO:0051056) GTPase activator activity (GO:0005096) NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) GTCACAGCACGGGCACCAGCC 0.547 NA g||| 1578 0.315096 0.1589 0.3905 5008 , , NA 22106 0.4306 NA 0.3827 False NA ,,, NA NA NA 2504 0.2843 NA NA NA NA 0 A 871,3453 90,691,1381 58 66 63 -2.3 0 1 dbSNP_120 63 3186,5332 614,1958,1687 no intron SIPA1L2 NM_020808.3 704,2649,3068 AA,AG,GG 37.4031,20.1434,31.5917 232551416 4057,8785 2162 4259 6421 SO:0001627 intron_variant AB037810 CCDS41474.1 1q42.2 2008-02-05 ENSG00000116991 ENSG00000116991 57568 23800 protein-coding gene gene with protein product 611609 NA Standard XM_045839 NM_020808 NA Approved KIAA1389 uc001hvg.3 Q9P2F8 OTTHUMG00000037820 ENST00000366630.1:c.4631-45C>T chr1.hg19:g.232551416G>A NA Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6 hg19 CCDS41474.1 0.02 4.725555 CACxGGC COVERED NOVEL SIPA1L2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000092318.1 1 12.038742 KEEP 0 0 0 40 1386 GG 1 1 0 - 8 60 305 0 0 21.240496 123 60 4487 211 ENST00000366630.1 0.061069 1 SIPA1L2 57568 __UNKNOWN__ __UNKNOWN__ 1 232574921 232574921 __UNKNOWN__ Missense_Mutation SNP T T C rs2275307 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:232574921T>C ENST00000366630.1 - 14 4322 c.3964A>G c.(3964-3966)Acc>Gcc p.T1322A SIPA1L2_ENST00000308942.4_Missense_Mutation_p.T396A|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.T1322A Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 1322 Ser-rich. NA T -> A (in dbSNP:rs2275307). {ECO:0000269|PubMed:10718198, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.1, ECO:0000269|Ref.4}. regulation of small GTPase mediated signal transduction (GO:0051056) GTPase activator activity (GO:0005096) NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) GCGGAGATGGTGGACGCGTAG 0.607 NA C||| 1764 0.352236 0.41 0.3473 5008 , , NA 19452 0.4643 NA 0.2008 False NA ,,, NA NA NA 2504 0.318 NA NA NA NA 0 C ALA/THR 1603,2551 312,979,786 32 35 34 3964 -1.9 0 1 dbSNP_100 34 1823,6619 204,1415,2602 yes missense SIPA1L2 NM_020808.3 58 516,2394,3388 CC,CT,TT 21.5944,38.5893,27.1991 benign 1322/1723 232574921 3426,9170 2077 4221 6298 SO:0001583 missense AB037810 CCDS41474.1 1q42.2 2008-02-05 ENSG00000116991 ENSG00000116991 57568 23800 protein-coding gene gene with protein product 611609 NA Standard XM_045839 NM_020808 NA Approved KIAA1389 uc001hvg.3 Q9P2F8 OTTHUMG00000037820 ENST00000366630.1:c.3964A>G chr1.hg19:g.232574921T>C ENSP00000355589:p.Thr1322Ala NA Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6 hg19 CCDS41474.1 0.02 8.810571 TGGxGGA COVERED 745 0.3411172161172161 206 0.4186991869918699 118 0.3259668508287293 274 0.479020979020979 147 0.19393139841688653 C 0.008 -1.930233 0.00488 0.385893 0.215944 ENSG00000116991 ENST00000366630;ENST00000262861;ENST00000308942 T;T;T 0.76968 -1.06;-1.06;2.89 5.16 -1.91 0.07641 . 0.762839 0.12744 N 0.442752 T 0.00012 0.0000 N 0.00707 -1.245 0.80722 P 0.0 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.17048 -1.0382 9 0.02654 T 1 -1.9707 7.3522 0.26697 0.0:0.3717:0.1155:0.5127 rs2275307;rs2275307 1322;396 Q9P2F8;Q9P2F8-2 SI1L2_HUMAN;. A 1322;1322;396 ENSP00000355589:T1322A;ENSP00000262861:T1322A;ENSP00000309102:T396A ENSP00000262861:T1322A T - 1 0 SIPA1L2 230641544 0.487000 0.25988 0.000000 0.03702 0.037000 0.13140 1.127000 0.31357 -0.905000 0.03871 -0.213000 0.12676 ACC NOVEL SIPA1L2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000092318.1 2 19.85516 KEEP 0 0 0 66 1988 TT 1 1 0 - 9 60 330 0 0 20.569025 235 60 8235 389 ENST00000366630.1 0.036885 1 NTPCR 84284 __UNKNOWN__ __UNKNOWN__ 1 233086456 233086456 __UNKNOWN__ 5'UTR SNP T T C rs13381 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:233086456T>C ENST00000366628.5 + 0 87 NTPCR_ENST00000366627.4_5'UTR NM_032324.1 NP_115700.1 Q9BSD7 NTPCR_HUMAN nucleoside-triphosphatase, cancer-related NA NA extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) ATP binding (GO:0005524)|nucleoside-triphosphatase activity (GO:0017111)|nucleotide phosphatase activity, acting on free nucleotides (GO:0098519)|poly(A) RNA binding (GO:0044822) large_intestine(2)|lung(1)|ovary(1) 4 CGCCCACCAGTATGGCCCGGC 0.706 NA C||| 1138 0.227236 0.3336 0.1513 5008 , , NA 12286 0.1825 NA 0.1988 False NA ,,, NA NA NA 2504 0.2127 NA NA NA NA 0 C 1441,2965 655.5+/-399.9 241,959,1003 30 32 31 1.5 0 1 dbSNP_52 31 2070,6528 691.9+/-404.5 252,1566,2481 no utr-5 NTPCR NM_032324.1 493,2525,3484 CC,CT,TT 24.0754,32.7054,26.9994 233086456 3511,9493 2203 4299 6502 SO:0001623 5_prime_UTR_variant BC005102 CCDS1597.1 1q42.2 2010-12-20 2010-12-20 2010-12-20 ENSG00000135778 ENSG00000135778 84284 3.6.1.15 28204 protein-coding gene gene with protein product human cancer-related NTPase chromosome 1 open reading frame 57 C1orf57 NA 17291528 Standard NM_032324 NM_032324 NA Approved MGC13186, HCR-NTPase uc001hvj.1 Q9BSD7 OTTHUMG00000037822 ENST00000366628.5:c.-1T>C chr1.hg19:g.233086456T>C NA hg19 CCDS1597.1 0.02 11.24152 CAGxATG COVERED NOVEL NTPCR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000092324.2 1 44.221919 KEEP 0 0 0 147 4356 TT 1 1 0 + 9 60 329 0 0 20.188577 253 60 8781 559 ENST00000366628.5 0.034351 1 NTPCR 84284 __UNKNOWN__ __UNKNOWN__ 1 233113196 233113196 __UNKNOWN__ Intron SNP C C T rs2236218 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:233113196C>T ENST00000366628.5 + 5 591 NTPCR_ENST00000490098.1_Intron|NTPCR_ENST00000366627.4_3'UTR NM_032324.1 NP_115700.1 Q9BSD7 NTPCR_HUMAN nucleoside-triphosphatase, cancer-related NA NA extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) ATP binding (GO:0005524)|nucleoside-triphosphatase activity (GO:0017111)|nucleotide phosphatase activity, acting on free nucleotides (GO:0098519)|poly(A) RNA binding (GO:0044822) large_intestine(2)|lung(1)|ovary(1) 4 GTGATGGGAGCAGAGATGGCC 0.512 NA C||| 851 0.169928 0.2179 0.1254 5008 , , NA 19602 0.1647 NA 0.1918 False NA ,,, NA NA NA 2504 0.1196 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC005102 CCDS1597.1 1q42.2 2010-12-20 2010-12-20 2010-12-20 ENSG00000135778 ENSG00000135778 84284 3.6.1.15 28204 protein-coding gene gene with protein product human cancer-related NTPase chromosome 1 open reading frame 57 C1orf57 NA 17291528 Standard NM_032324 NM_032324 NA Approved MGC13186, HCR-NTPase uc001hvj.1 Q9BSD7 OTTHUMG00000037822 ENST00000366628.5:c.505-713C>T chr1.hg19:g.233113196C>T NA hg19 CCDS1597.1 0.02 4.056557 GAGxAGA COVERED NOVEL NTPCR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000092324.2 0 3.544675 KEEP 0 1 23 20 705 CC 0.999869 0.999869 0 + 10 60 336 0 0 22.775047 129 60 4762 190 ENST00000366628.5 0.071942 1 PCNXL2 80003 __UNKNOWN__ __UNKNOWN__ 1 233120192 233120192 __UNKNOWN__ Missense_Mutation SNP G G A rs113070999 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:233120192G>A ENST00000258229.9 - 34 6506 c.6272C>T c.(6271-6273)gCc>gTc p.A2091V PCNXL2_ENST00000344698.2_3'UTR NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) 2091 NA integral component of membrane (GO:0016021) NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) CTGCTCGGTGGCATCAGGGGG 0.577 NA G||| 159 0.0317492 0.0151 0.0216 5008 , , NA 16842 0.0665 NA 0.0258 False NA ,,, NA NA NA 2504 0.0317 NA NA NA NA 0 G VAL/ALA 83,4129 0,83,2023 61 67 65 6272 0.3 0 1 dbSNP_132 65 258,8212 1,256,3978 yes missense PCNXL2 NM_014801.3 64 1,339,6001 AA,AG,GG 3.046,1.9706,2.6889 benign 2091/2138 233120192 341,12341 2106 4235 6341 SO:0001583 missense AK055374 CCDS44335.1 1q42.2 2008-02-05 2001-11-28 ENSG00000135749 ENSG00000135749 80003 8736 protein-coding gene gene with protein product pecanex (Drosophila)-like 2 NA 12477932 Standard NM_014801 NM_014801 NA Approved KIAA0435, FLJ11383 uc001hvl.2 A6NKB5 OTTHUMG00000037824 ENST00000258229.9:c.6272C>T chr1.hg19:g.233120192G>A ENSP00000258229:p.Ala2091Val NA O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8 hg19 CCDS44335.1 0.02 15.520333 GTGxCAT COVERED 98 0.04487179487179487 11 0.022357723577235773 10 0.027624309392265192 48 0.08391608391608392 29 0.03825857519788918 G 8.732 0.916918 0.17907 0.019706 0.03046 ENSG00000135749 ENST00000258229 T 0.09911 2.93 5.84 0.298 0.15766 . 0.480636 0.20445 N 0.092215 T 0.00356 0.0011 L 0.27053 0.805 0.09310 N 1 B 0.06786 0.001 B 0.08055 0.003 T 0.35450 -0.9788 10 0.44086 T 0.13 . 7.5791 0.27955 0.1476:0.4021:0.4503:0.0 . 2091 A6NKB5 PCX2_HUMAN V 2091 ENSP00000258229:A2091V ENSP00000258229:A2091V A - 2 0 PCNXL2 231186815 0.006000 0.16342 0.000000 0.03702 0.007000 0.05969 1.347000 0.33975 0.070000 0.16634 0.655000 0.94253 GCC NOVEL PCNXL2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000092480.3 1 20.166034 KEEP 0 0 0 67 2412 GG 1 1 0 - 13 60 461 0 0 26.98263 419 60 15086 591 ENST00000258229.9 0.030093 1 PCNXL2 80003 __UNKNOWN__ __UNKNOWN__ 1 233122127 233122127 __UNKNOWN__ Missense_Mutation SNP C C T rs41309639 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:233122127C>T ENST00000258229.9 - 33 6185 c.5951G>A c.(5950-5952)cGg>cAg p.R1984Q PCNXL2_ENST00000344698.2_Missense_Mutation_p.R636Q NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) 1984 Ser-rich. NA R -> Q (in dbSNP:rs41309639). integral component of membrane (GO:0016021) NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) CAAGGAGAGCCGGCTGCCCGA 0.677 NA C||| 863 0.172324 0.2163 0.1254 5008 , , NA 15104 0.1667 NA 0.2008 False NA ,,, NA NA NA 2504 0.1227 NA NA NA NA 0 C GLN/ARG 941,3155 122,697,1229 18 25 23 5951 1.6 1 1 dbSNP_127 23 1981,6397 239,1503,2447 yes missense PCNXL2 NM_014801.3 43 361,2200,3676 TT,TC,CC 23.6453,22.9736,23.4247 benign 1984/2138 233122127 2922,9552 2048 4189 6237 SO:0001583 missense AK055374 CCDS44335.1 1q42.2 2008-02-05 2001-11-28 ENSG00000135749 ENSG00000135749 80003 8736 protein-coding gene gene with protein product pecanex (Drosophila)-like 2 NA 12477932 Standard NM_014801 NM_014801 NA Approved KIAA0435, FLJ11383 uc001hvl.2 A6NKB5 OTTHUMG00000037824 ENST00000258229.9:c.5951G>A chr1.hg19:g.233122127C>T ENSP00000258229:p.Arg1984Gln NA O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8 hg19 CCDS44335.1 0.02 4.427338 AGCxGGC COVERED 436 0.19963369963369965 107 0.21747967479674796 55 0.15193370165745856 117 0.20454545454545456 157 0.20712401055408972 C 1.460 -0.562604 0.03939 0.229736 0.236453 ENSG00000135749 ENST00000344698;ENST00000258229 T;T 0.19806 2.12;3.33 5.85 1.57 0.23409 . 0.260739 0.32624 N 0.005850 T 0.00012 0.0000 N 0.12746 0.255 0.09310 P 1.0 B;B 0.15473 0.003;0.013 B;B 0.10450 0.002;0.005 T 0.40496 -0.9560 9 0.02654 T 1 . 3.1769 0.06571 0.1857:0.3746:0.0:0.4397 rs41309639;rs61731485 1984;636 A6NKB5;A6NKB5-3 PCX2_HUMAN;. Q 636;1984 ENSP00000340759:R636Q;ENSP00000258229:R1984Q ENSP00000258229:R1984Q R - 2 0 PCNXL2 231188750 1.000000 0.71417 0.999000 0.59377 0.110000 0.19582 1.388000 0.34442 0.318000 0.23185 -0.258000 0.10820 CGG NOVEL PCNXL2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000092480.3 1 11.73764 KEEP 0 0 0 39 1334 CC 1 1 0 - 7 60 263 0 0 17.808506 123 60 4285 211 ENST00000258229.9 0.053846 1 PCNXL2 80003 __UNKNOWN__ __UNKNOWN__ 1 233134086 233134086 __UNKNOWN__ Missense_Mutation SNP C C T rs56231757 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:233134086C>T ENST00000258229.9 - 32 5936 c.5702G>A c.(5701-5703)aGt>aAt p.S1901N PCNXL2_ENST00000344698.2_Missense_Mutation_p.S553N NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) 1901 NA S -> N (in dbSNP:rs56231757). {ECO:0000269|PubMed:9455477}. integral component of membrane (GO:0016021) NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) GCTGCCACCACTCGGGGCATT 0.627 NA C||| 919 0.183506 0.2542 0.1657 5008 , , NA 18270 0.12 NA 0.2147 False NA ,,, NA NA NA 2504 0.1339 NA NA NA NA 0 C ASN/SER 1011,3043 106,799,1122 47 48 48 5702 3.8 0 1 dbSNP_129 48 1921,6477 222,1477,2500 yes missense PCNXL2 NM_014801.3 46 328,2276,3622 TT,TC,CC 22.8745,24.9383,23.5464 benign 1901/2138 233134086 2932,9520 2027 4199 6226 SO:0001583 missense AK055374 CCDS44335.1 1q42.2 2008-02-05 2001-11-28 ENSG00000135749 ENSG00000135749 80003 8736 protein-coding gene gene with protein product pecanex (Drosophila)-like 2 NA 12477932 Standard NM_014801 NM_014801 NA Approved KIAA0435, FLJ11383 uc001hvl.2 A6NKB5 OTTHUMG00000037824 ENST00000258229.9:c.5702G>A chr1.hg19:g.233134086C>T ENSP00000258229:p.Ser1901Asn NA O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8 hg19 CCDS44335.1 0.02 8.472979 CCAxTCG COVERED 434 0.1987179487179487 132 0.2682926829268293 67 0.1850828729281768 75 0.13111888111888112 160 0.21108179419525067 C 13.99 2.402301 0.42613 0.249383 0.228745 ENSG00000135749 ENST00000344698;ENST00000258229 T;T 0.23754 1.89;3.06 5.71 3.82 0.43975 . 0.900119 0.09944 N 0.735589 T 0.00012 0.0000 L 0.31294 0.92 0.41241 P 0.01335900000000001 B;B 0.11235 0.0;0.004 B;B 0.09377 0.002;0.004 T 0.29027 -1.0025 9 0.44086 T 0.13 . 9.345 0.38102 0.0:0.7795:0.0:0.2205 rs56231757;rs61738804 1901;553 A6NKB5;A6NKB5-3 PCX2_HUMAN;. N 553;1901 ENSP00000340759:S553N;ENSP00000258229:S1901N ENSP00000258229:S1901N S - 2 0 PCNXL2 231200709 0.003000 0.15002 0.009000 0.14445 0.119000 0.20118 1.895000 0.39778 0.757000 0.33036 0.563000 0.77884 AGT NOVEL PCNXL2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000092480.3 0 18.960366 KEEP 0 0 0 63 2224 CC 1 1 0 - 10 60 333 0 0 20.151632 227 60 8393 378 ENST00000258229.9 0.042194 1 PCNXL2 80003 __UNKNOWN__ __UNKNOWN__ 1 233336044 233336044 __UNKNOWN__ Intron SNP T T A rs12024129 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:233336044T>A ENST00000258229.9 - 14 3098 PCNXL2_ENST00000488780.2_Intron NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) NA NA integral component of membrane (GO:0016021) NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) ACGATAAGCATGGGGAACTGT 0.443 NA T||| 1345 0.26857 0.1362 0.3963 5008 , , NA 18379 0.5496 NA 0.1889 False NA ,,, NA NA NA 2504 0.1493 NA NA NA NA 0 T 461,3359 20,421,1469 22 22 22 -3.5 0 1 dbSNP_120 22 1313,6831 99,1115,2858 no intron PCNXL2 NM_014801.3 119,1536,4327 AA,AT,TT 16.1223,12.0681,14.8278 233336044 1774,10190 1910 4072 5982 SO:0001627 intron_variant AK055374 CCDS44335.1 1q42.2 2008-02-05 2001-11-28 ENSG00000135749 ENSG00000135749 80003 8736 protein-coding gene gene with protein product pecanex (Drosophila)-like 2 NA 12477932 Standard NM_014801 NM_014801 NA Approved KIAA0435, FLJ11383 uc001hvl.2 A6NKB5 OTTHUMG00000037824 ENST00000258229.9:c.2864-34A>T chr1.hg19:g.233336044T>A NA O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8 hg19 CCDS44335.1 0.02 6.801331 GCAxGGG COVERED NOVEL PCNXL2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000092480.3 4 19.857519 KEEP 0 0 0 66 2055 TT 1 1 0 - 6 60 233 0 0 14.771257 172 60 6399 306 ENST00000258229.9 0.033708 1 PCNXL2 80003 __UNKNOWN__ __UNKNOWN__ 1 233397909 233397909 __UNKNOWN__ Missense_Mutation SNP T T C rs78404265 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:233397909T>C ENST00000258229.9 - 3 596 c.362A>G c.(361-363)aAt>aGt p.N121S PCNXL2_ENST00000430153.1_5'UTR NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) 121 NA integral component of membrane (GO:0016021) NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) CTGCCTATTATTGCTAACCCA 0.448 NA T||| 82 0.0163738 0.0015 0.0043 5008 , , NA 20897 0.0258 NA 0.0189 False NA ,,, NA NA NA 2504 0.0327 NA NA NA NA 0 T SER/ASN 6,3888 0,6,1941 180 188 186 362 -1.3 0 1 dbSNP_131 186 100,8180 0,100,4040 yes missense PCNXL2 NM_014801.3 46 0,106,5981 CC,CT,TT 1.2077,0.1541,0.8707 possibly-damaging 121/2138 233397909 106,12068 1947 4140 6087 SO:0001583 missense AK055374 CCDS44335.1 1q42.2 2008-02-05 2001-11-28 ENSG00000135749 ENSG00000135749 80003 8736 protein-coding gene gene with protein product pecanex (Drosophila)-like 2 NA 12477932 Standard NM_014801 NM_014801 NA Approved KIAA0435, FLJ11383 uc001hvl.2 A6NKB5 OTTHUMG00000037824 ENST00000258229.9:c.362A>G chr1.hg19:g.233397909T>C ENSP00000258229:p.Asn121Ser NA O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8 hg19 CCDS44335.1 0.02 14.178498 TTAxTGC COVERED 32 0.014652014652014652 0 0.0 1 0.0027624309392265192 15 0.026223776223776224 16 0.021108179419525065 T 11.61 1.691363 0.30052 0.001541 0.012077 ENSG00000135749 ENST00000258229 T 0.38401 1.14 5.2 -1.34 0.09143 . . . . . T 0.07369 0.0186 N 0.22421 0.69 0.58432 D 0.999993 B 0.09022 0.002 B 0.08055 0.003 T 0.06215 -1.0839 9 0.32370 T 0.25 . 9.1993 0.37249 0.0:0.3821:0.0:0.6179 . 121 A6NKB5 PCX2_HUMAN S 121 ENSP00000258229:N121S ENSP00000258229:N121S N - 2 0 PCNXL2 231464532 0.857000 0.29778 0.006000 0.13384 0.586000 0.36452 0.066000 0.14489 -0.427000 0.07350 -0.256000 0.11100 AAT NOVEL PCNXL2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000092480.3 0 14.4426 KEEP 0 0 0 48 1544 TT 1 1 0 - 10 60 392 0 0 24.437969 326 60 11972 490 ENST00000258229.9 0.029762 1 MLK4 0 __UNKNOWN__ __UNKNOWN__ 1 233508430 233508430 __UNKNOWN__ Intron SNP G G A rs12568697 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:233508430G>A ENST00000366624.3 + 6 1936 MLK4_ENST00000366623.3_3'UTR NM_032435.2 NP_115811.2 NA NA NA AGACAGTACAGACAGCTGATT 0.353 NA G||| 1110 0.221645 0.0265 0.1427 5008 , , NA 19283 0.3819 NA 0.2982 False NA ,,, NA NA NA 2504 0.2975 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000366624.3:c.1675+524G>A chr1.hg19:g.233508430G>A NA hg19 CCDS1598.1 0.02 10.239347 ACAxACA COVERED NOVEL MLK4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000092495.1 7 2.342656 KEEP 0 1 32 19 675 GG 0.999863 0.999863 0 + 8 60 284 1 0 16.837667 243 60 9304 310 ENST00000366624.3 0.031873 1 MLK4 0 __UNKNOWN__ __UNKNOWN__ 1 233518682 233518682 __UNKNOWN__ 3'UTR SNP G G A rs1294236 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:233518682G>A ENST00000366624.3 + 0 3597 MLK4_ENST00000366622.1_3'UTR NM_032435.2 NP_115811.2 NA NA NA ACACAAAAGTGTAAAACAAGA 0.338 NA G||| 2077 0.414736 0.5038 0.3761 5008 , , NA 18805 0.4048 NA 0.4026 False NA ,,, NA NA NA 2504 0.3446 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant NA NA NA NA ENST00000366624.3:c.*225G>A chr1.hg19:g.233518682G>A NA hg19 CCDS1598.1 0.02 6.193694 AGTxTAA COVERED NOVEL MLK4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000092495.1 1 3.245742 KEEP 0 1 32 22 777 GG 0.999892 0.999892 0 + 6 60 224 0 0 13.857612 173 60 6486 228 ENST00000366624.3 0.03352 1 MLK4 0 __UNKNOWN__ __UNKNOWN__ 1 233518998 233518998 __UNKNOWN__ 3'UTR SNP C C T rs1294233 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:233518998C>T ENST00000366624.3 + 0 3913 MLK4_ENST00000366622.1_3'UTR NM_032435.2 NP_115811.2 NA NA NA AAAAGTCTGACGACTGGAATA 0.333 NA c||| 2075 0.414337 0.5045 0.3761 5008 , , NA 16801 0.4048 NA 0.4026 False NA ,,, NA NA NA 2504 0.3415 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant NA NA NA NA ENST00000366624.3:c.*541C>T chr1.hg19:g.233518998C>T NA hg19 CCDS1598.1 0.02 4.412317 TGAxGAC COVERED NOVEL MLK4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000092495.1 9 2.642874 KEEP 0 1 29 19 668 CC 0.999863 0.999857 0 + 5 60 189 0 0 12.458769 105 60 3766 164 ENST00000366624.3 0.045455 0.999994 MLK4 0 __UNKNOWN__ __UNKNOWN__ 1 233519825 233519825 __UNKNOWN__ 3'UTR SNP C C T rs1294230 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:233519825C>T ENST00000366624.3 + 0 4740 MLK4_ENST00000366622.1_3'UTR NM_032435.2 NP_115811.2 NA NA NA GACAGACAATCGACATTTAAA 0.333 NA C||| 2074 0.414137 0.5045 0.3761 5008 , , NA 18158 0.4048 NA 0.4016 False NA ,,, NA NA NA 2504 0.3415 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant NA NA NA NA ENST00000366624.3:c.*1368C>T chr1.hg19:g.233519825C>T NA hg19 CCDS1598.1 0.02 6.053624 AATxGAC COVERED NOVEL MLK4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000092495.1 1 8.424818 KEEP 0 0 0 28 903 CC 0.999997 0.999997 0 + 6 60 223 0 0 13.531806 189 60 6326 255 ENST00000366624.3 0.030769 1 MLK4 0 __UNKNOWN__ __UNKNOWN__ 1 233520144 233520144 __UNKNOWN__ 3'UTR SNP A A G rs1294229 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:233520144A>G ENST00000366624.3 + 0 5059 MLK4_ENST00000366622.1_3'UTR NM_032435.2 NP_115811.2 NA NA NA AAAGTCTCAGATACTTAATAC 0.353 NA G||| 2088 0.416933 0.5121 0.3775 5008 , , NA 19805 0.4048 NA 0.4016 False NA ,,, NA NA NA 2504 0.3446 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant NA NA NA NA ENST00000366624.3:c.*1687A>G chr1.hg19:g.233520144A>G NA hg19 CCDS1598.1 0.02 9.078827 CAGxTAC COVERED NOVEL MLK4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000092495.1 2 5.11548 KEEP 0 0 0 17 540 AA 0.999366 0.999366 0 + 8 60 301 0 0 19.299431 194 60 7009 241 ENST00000366624.3 0.039604 1 MLK4 0 __UNKNOWN__ __UNKNOWN__ 1 233520845 233520845 __UNKNOWN__ 3'UTR SNP T T C rs1294227 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:233520845T>C ENST00000366624.3 + 0 5760 MLK4_ENST00000366622.1_3'UTR NM_032435.2 NP_115811.2 NA NA NA TGTTTACATATGTTGTCTATT 0.323 NA T||| 1889 0.377196 0.503 0.2565 5008 , , NA 15734 0.3343 NA 0.4016 False NA ,,, NA NA NA 2504 0.3119 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant NA NA NA NA ENST00000366624.3:c.*2388T>C chr1.hg19:g.233520845T>C NA hg19 CCDS1598.1 0.02 3.769197 ATAxGTT COVERED NOVEL MLK4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000092495.1 0 4.213017 KEEP 0 0 0 14 448 TT 0.995343 0.995343 0 + 7 60 238 0 0 14.884282 142 60 5309 187 ENST00000366624.3 0.04698 1 SLC35F3 148641 __UNKNOWN__ __UNKNOWN__ 1 234041317 234041317 __UNKNOWN__ Silent SNP C C T rs79244900 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:234041317C>T ENST00000366618.3 + 2 241 c.96C>T c.(94-96)tcC>tcT p.S32S NM_173508.2 NP_775779.1 Q8IY50 S35F3_HUMAN solute carrier family 35, member F3 0 NA thiamine transport (GO:0015888) integral component of membrane (GO:0016021) breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1) 32 Ovarian(103;0.0454) all_cancers(173;0.145)|Prostate(94;0.0885) OV - Ovarian serous cystadenocarcinoma(106;0.00531) GGAGACTGTCCGACATCAGCC 0.652 NA C||| 295 0.0589058 0.0015 0.0346 5008 , , NA 15452 0.1508 NA 0.0258 False NA ,,, NA NA NA 2504 0.093 NA NA NA NA 0 C 24,4382 30.8+/-60.4 0,24,2179 33 37 36 96 -10.5 0.8 1 dbSNP_131 36 223,8377 90.9+/-153.0 1,221,4078 no coding-synonymous SLC35F3 NM_173508.2 1,245,6257 TT,TC,CC 2.593,0.5447,1.8991 32/491 234041317 247,12759 2203 4300 6503 SO:0001819 synonymous_variant CCDS1600.1, CCDS73050.1 1q42.3 2013-05-22 ENSG00000183780 ENSG00000183780 148641 Solute carriers 23616 protein-coding gene gene with protein product NA Standard NM_173508 XM_005273070 NA Approved FLJ37712 uc001hvy.1 Q8IY50 OTTHUMG00000037929 ENST00000366618.3:c.96C>T chr1.hg19:g.234041317C>T NA Q5TDD6|Q8N9C9 hg19 CCDS1600.1 0.02 13.001122 GTCxGAC COVERED NOVEL SLC35F3-001 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000092579.2 0 6.922125 KEEP 0 0 0 23 797 CC 0.999892 0.999892 0 + 16 60 597 0 0 39.241141 328 60 11800 428 ENST00000366618.3 0.046512 1 SLC35F3 148641 __UNKNOWN__ __UNKNOWN__ 1 234456021 234456021 __UNKNOWN__ Intron SNP T T C rs79691078 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:234456021T>C ENST00000366618.3 + 7 1382 SLC35F3_ENST00000366617.3_Intron NM_173508.2 NP_775779.1 Q8IY50 S35F3_HUMAN solute carrier family 35, member F3 NA NA thiamine transport (GO:0015888) integral component of membrane (GO:0016021) breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1) 32 Ovarian(103;0.0454) all_cancers(173;0.145)|Prostate(94;0.0885) OV - Ovarian serous cystadenocarcinoma(106;0.00531) catgcatacatacacactcac 0.423 NA T||| 191 0.038139 0.0015 0.111 5008 , , NA 22187 0.1071 NA 0.0 False NA ,,, NA NA NA 2504 0.0041 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS1600.1, CCDS73050.1 1q42.3 2013-05-22 ENSG00000183780 ENSG00000183780 148641 Solute carriers 23616 protein-coding gene gene with protein product NA Standard NM_173508 XM_005273070 NA Approved FLJ37712 uc001hvy.1 Q8IY50 OTTHUMG00000037929 ENST00000366618.3:c.1237+88T>C chr1.hg19:g.234456021T>C NA Q5TDD6|Q8N9C9 hg19 CCDS1600.1 0.02 7.150771 ACAxACA COVERED NOVEL SLC35F3-001 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000092579.2 5 9.629126 KEEP 0 0 0 32 1004 TT 0.999997 0.999997 0 + 7 60 252 0 0 16.128514 152 60 5348 215 ENST00000366618.3 0.044025 1 TARBP1 6894 __UNKNOWN__ __UNKNOWN__ 1 234541801 234541801 __UNKNOWN__ Silent SNP A A G rs12073170 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:234541801A>G ENST00000040877.1 - 24 3836 c.3837T>C c.(3835-3837)tgT>tgC p.C1279C TARBP1_ENST00000483404.1_5'UTR NM_005646.3 NP_005637.3 Q13395 TARB1_HUMAN TAR (HIV-1) RNA binding protein 1 1279 NA regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396) nucleus (GO:0005634) RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 55 Ovarian(103;0.0339) all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172) OV - Ovarian serous cystadenocarcinoma(106;0.000263) TGTGATTGAAACACCACTGCA 0.373 NA A||| 569 0.113618 0.146 0.1744 5008 , , NA 21750 0.0853 NA 0.0885 False NA ,,, NA NA NA 2504 0.0818 NA NA NA NA 0 A 579,3827 259.2+/-262.9 48,483,1672 117 113 114 3837 -4.3 0.1 1 dbSNP_120 114 773,7827 183.0+/-231.3 39,695,3566 no coding-synonymous TARBP1 NM_005646.3 87,1178,5238 GG,GA,AA 8.9884,13.1412,10.3952 1279/1622 234541801 1352,11654 2203 4300 6503 SO:0001819 synonymous_variant CCDS1601.1 1q42.2 2012-06-12 2007-06-26 ENSG00000059588 ENSG00000059588 6894 11568 protein-coding gene gene with protein product tRNA methyltransferase 3 homolog (S. cerevisiae) 605052 Tar (HIV-1) RNA binding protein 1 NA 1936997 Standard NM_005646 NM_005646 NA Approved TRP-185, TRM3 uc001hwd.3 Q13395 OTTHUMG00000037947 ENST00000040877.1:c.3837T>C chr1.hg19:g.234541801A>G NA Q9H581 hg19 CCDS1601.1 0.02 9.543148 GAAxCAC COVERED NOVEL TARBP1-001 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000092616.1 0 9.624571 KEEP 0 0 0 32 944 AA 0.999997 0.999997 0 - 9 60 335 0 0 21.747938 197 60 6990 293 ENST00000040877.1 0.043689 1 IRF2BP2 359948 __UNKNOWN__ __UNKNOWN__ 1 234740141 234740141 __UNKNOWN__ 3'UTR SNP G G A rs8823 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:234740141G>A ENST00000366610.3 - 0 4488 IRF2BP2_ENST00000366609.3_3'UTR NM_001077397.1 NP_001070865.1 Q7Z5L9 I2BP2_HUMAN interferon regulatory factor 2 binding protein 2 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) metal ion binding (GO:0046872) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 11 Ovarian(103;0.0303) all_cancers(173;0.0236)|Prostate(94;0.0115) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05) AATAATGTTGGTATCTGAGAT 0.294 NA A||| 3011 0.601238 0.8661 0.5519 5008 , , NA 16723 0.2639 NA 0.7734 False NA ,,, NA NA NA 2504 0.4489 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY278023 CCDS1602.1, CCDS41475.1 1q42.3 2008-02-05 ENSG00000168264 ENSG00000168264 359948 21729 protein-coding gene gene with protein product 615332 NA 12799427 Standard NM_182972 NM_182972 NA Approved IRF-2BP2 uc001hwg.3 Q7Z5L9 OTTHUMG00000037981 ENST00000366610.3:c.*2742C>T chr1.hg19:g.234740141G>A NA B1AM35|B1AM36|Q6P083|Q7Z5L8|Q8N351|Q8WUH8 hg19 CCDS41475.1 0.02 8.545436 TTGxTAT COVERED NOVEL IRF2BP2-001 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000092704.1 3 49.927608 KEEP 0 2 60 187 6528 GG 1 1 0 - 8 60 297 0 0 18.848751 197 60 7223 516 ENST00000366610.3 0.039024 1 IRF2BP2 359948 __UNKNOWN__ __UNKNOWN__ 1 234744250 234744250 __UNKNOWN__ Silent SNP G G A rs8722 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:234744250G>A ENST00000366610.3 - 1 1021 c.991C>T c.(991-993)Ctg>Ttg p.L331L IRF2BP2_ENST00000366609.3_Silent_p.L331L|RP4-781K5.2_ENST00000436039.1_RNA NM_001077397.1 NP_001070865.1 Q7Z5L9 I2BP2_HUMAN interferon regulatory factor 2 binding protein 2 331 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) metal ion binding (GO:0046872) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 11 Ovarian(103;0.0303) all_cancers(173;0.0236)|Prostate(94;0.0115) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05) CCTGCAGTCAGGGCCGGCTCC 0.642 NA G||| 680 0.135783 0.0129 0.1398 5008 , , NA 14867 0.2034 NA 0.2455 False NA ,,, NA NA NA 2504 0.1166 NA NA NA NA 0 G , 199,4203 5,189,2007 22 21 22 991,991 4.8 1 1 dbSNP_52 22 1983,6617 240,1503,2557 no coding-synonymous,coding-synonymous IRF2BP2 NM_001077397.1,NM_182972.2 , 245,1692,4564 AA,AG,GG 23.0581,4.5207,16.782 , 331/572,331/588 234744250 2182,10820 2201 4300 6501 SO:0001819 synonymous_variant AY278023 CCDS1602.1, CCDS41475.1 1q42.3 2008-02-05 ENSG00000168264 ENSG00000168264 359948 21729 protein-coding gene gene with protein product 615332 NA 12799427 Standard NM_182972 NM_182972 NA Approved IRF-2BP2 uc001hwg.3 Q7Z5L9 OTTHUMG00000037981 ENST00000366610.3:c.991C>T chr1.hg19:g.234744250G>A NA B1AM35|B1AM36|Q6P083|Q7Z5L8|Q8N351|Q8WUH8 hg19 CCDS41475.1 0.02 6.871505 TCAxGGC COVERED NOVEL IRF2BP2-001 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000092704.1 1 56.446755 KEEP 0 5 149 240 8619 GG 1 1 0 - 8 60 301 0 0 19.93227 161 60 6071 563 ENST00000366610.3 0.047337 1 GNG4 2786 __UNKNOWN__ __UNKNOWN__ 1 235714571 235714571 __UNKNOWN__ 3'UTR SNP T T C rs386640603|rs67745431|rs12064698 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:235714571T>C ENST00000366598.4 - 0 1281 GNG4_ENST00000450593.1_3'UTR|GNG4_ENST00000391854.2_3'UTR|GNG4_ENST00000366597.1_3'UTR P50150 GBG4_HUMAN guanine nucleotide binding protein (G protein), gamma 4 NA NA cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of cell growth (GO:0030308)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268) extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886) signal transducer activity (GO:0004871) NS(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1) 8 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00168)|Prostate(94;0.0776)|Acute lymphoblastic leukemia(190;0.23) OV - Ovarian serous cystadenocarcinoma(106;0.000882) Cggccgggtgtggtggctcac 0.612 NA C||| 2461 0.491414 0.4955 0.5764 5008 , , NA 16819 0.6825 NA 0.2475 False NA ,,, NA NA NA 2504 0.4796 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC022485 CCDS1607.1 1q42.3 2008-02-05 ENSG00000168243 ENSG00000168243 2786 4407 protein-coding gene gene with protein product 604388 NA 7665596 Standard NM_004485 NM_001098721 NA Approved uc001hxh.4 P50150 OTTHUMG00000040740 ENST00000366598.4:c.*838A>G chr1.hg19:g.235714571T>C NA hg19 CCDS1607.1 0.02 6.498151 GTGxGGT COVERED NOVEL GNG4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000097906.1 3 6.987645 KEEP 0 2 71 48 1473 TT 1 1 0 - 7 60 237 0 0 14.057345 182 60 6438 274 ENST00000366598.4 0.037037 1 GNG4 2786 __UNKNOWN__ __UNKNOWN__ 1 235715029 235715029 __UNKNOWN__ 3'UTR SNP G G A rs923942 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:235715029G>A ENST00000366598.4 - 0 823 GNG4_ENST00000450593.1_3'UTR|GNG4_ENST00000391854.2_3'UTR|GNG4_ENST00000366597.1_3'UTR P50150 GBG4_HUMAN guanine nucleotide binding protein (G protein), gamma 4 NA NA cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of cell growth (GO:0030308)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268) extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886) signal transducer activity (GO:0004871) NS(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1) 8 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00168)|Prostate(94;0.0776)|Acute lymphoblastic leukemia(190;0.23) OV - Ovarian serous cystadenocarcinoma(106;0.000882) ACTGAATATTGCAAATAAGGG 0.289 NA G||| 1897 0.378794 0.298 0.4813 5008 , , NA 16806 0.6647 NA 0.1571 False NA ,,, NA NA NA 2504 0.3487 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC022485 CCDS1607.1 1q42.3 2008-02-05 ENSG00000168243 ENSG00000168243 2786 4407 protein-coding gene gene with protein product 604388 NA 7665596 Standard NM_004485 NM_001098721 NA Approved uc001hxh.4 P50150 OTTHUMG00000040740 ENST00000366598.4:c.*380C>T chr1.hg19:g.235715029G>A NA hg19 CCDS1607.1 0.02 3.761072 ATTxCAA COVERED NOVEL GNG4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000097906.1 1 6.617007 KEEP 0 0 0 22 762 GG 0.999879 0.999879 0 - 5 60 178 0 0 10.67254 145 60 5443 207 ENST00000366598.4 0.033333 1 GNG4 2786 __UNKNOWN__ __UNKNOWN__ 1 235715523 235715523 __UNKNOWN__ Silent SNP A A G rs14326 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:235715523A>G ENST00000366598.4 - 3 329 c.114T>C c.(112-114)gcT>gcC p.A38A GNG4_ENST00000450593.1_Silent_p.A38A|GNG4_ENST00000391854.2_Silent_p.A38A|GNG4_ENST00000484517.1_5'UTR|GNG4_ENST00000366597.1_Silent_p.A38A P50150 GBG4_HUMAN guanine nucleotide binding protein (G protein), gamma 4 38 NA cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of cell growth (GO:0030308)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268) extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886) signal transducer activity (GO:0004871) NS(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1) 8 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00168)|Prostate(94;0.0776)|Acute lymphoblastic leukemia(190;0.23) OV - Ovarian serous cystadenocarcinoma(106;0.000882) GGAGGTCCGCAGCTGCCTGGG 0.562 NA A||| 3161 0.63119 0.5893 0.6599 5008 , , NA 19704 0.8383 NA 0.495 False NA ,,, NA NA NA 2504 0.5941 NA NA NA NA 0 A ,, 2636,1770 644.4+/-398.0 795,1046,362 90 91 91 114,114,114 -9.5 0 1 dbSNP_52 91 4376,4224 583.3+/-391.5 1110,2156,1034 no coding-synonymous,coding-synonymous,coding-synonymous GNG4 NM_001098721.1,NM_001098722.1,NM_004485.3 ,, 1905,3202,1396 GG,GA,AA 49.1163,40.1725,46.0864 ,, 38/76,38/76,38/76 235715523 7012,5994 2203 4300 6503 SO:0001819 synonymous_variant BC022485 CCDS1607.1 1q42.3 2008-02-05 ENSG00000168243 ENSG00000168243 2786 4407 protein-coding gene gene with protein product 604388 NA 7665596 Standard NM_004485 NM_001098721 NA Approved uc001hxh.4 P50150 OTTHUMG00000040740 ENST00000366598.4:c.114T>C chr1.hg19:g.235715523A>G NA hg19 CCDS1607.1 0.02 21.135546 CGCxGCT COVERED NOVEL GNG4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000097906.1 3 6.856188 KEEP 0 1 38 36 1111 AA 1 1 0 - 16 60 579 0 0 35.431872 441 60 16460 569 ENST00000366598.4 0.035011 1 GNG4 2786 __UNKNOWN__ __UNKNOWN__ 1 235747005 235747005 __UNKNOWN__ Intron SNP C C T rs2774335 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:235747005C>T ENST00000366598.4 - 2 315 GNG4_ENST00000450593.1_Intron|GNG4_ENST00000391854.2_Intron|GNG4_ENST00000484517.1_Intron|GNG4_ENST00000366597.1_Intron P50150 GBG4_HUMAN guanine nucleotide binding protein (G protein), gamma 4 NA NA cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of cell growth (GO:0030308)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268) extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886) signal transducer activity (GO:0004871) NS(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1) 8 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00168)|Prostate(94;0.0776)|Acute lymphoblastic leukemia(190;0.23) OV - Ovarian serous cystadenocarcinoma(106;0.000882) AGCTGAGCTTCGGGCGGAGGG 0.537 NA C||| 2501 0.499401 0.3903 0.5231 5008 , , NA 21108 0.7996 NA 0.3757 False NA ,,, NA NA NA 2504 0.4479 NA NA NA NA 0 C ,, 1728,2678 518.1+/-369.6 340,1048,815 93 88 90 ,, -6.8 0 1 dbSNP_100 90 3089,5511 473.7+/-368.7 588,1913,1799 no intron,intron,intron GNG4 NM_001098721.1,NM_001098722.1,NM_004485.3 ,, 928,2961,2614 TT,TC,CC 35.9186,39.2192,37.0368 ,, ,, 235747005 4817,8189 2203 4300 6503 SO:0001627 intron_variant BC022485 CCDS1607.1 1q42.3 2008-02-05 ENSG00000168243 ENSG00000168243 2786 4407 protein-coding gene gene with protein product 604388 NA 7665596 Standard NM_004485 NM_001098721 NA Approved uc001hxh.4 P50150 OTTHUMG00000040740 ENST00000366598.4:c.99+34G>A chr1.hg19:g.235747005C>T NA hg19 CCDS1607.1 0.02 5.915498 CTTxGGG COVERED NOVEL GNG4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000097906.1 0 5.108478 KEEP 0 0 0 17 534 CC 0.999366 0.999366 0 - 12 60 393 0 0 26.843443 142 60 5168 180 ENST00000366598.4 0.077922 1 GNG4 2786 __UNKNOWN__ __UNKNOWN__ 1 235747154 235747154 __UNKNOWN__ Intron SNP A A G rs2774336 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:235747154A>G ENST00000366598.4 - 2 206 GNG4_ENST00000450593.1_Intron|GNG4_ENST00000391854.2_Intron|GNG4_ENST00000484517.1_Intron|GNG4_ENST00000366597.1_Intron P50150 GBG4_HUMAN guanine nucleotide binding protein (G protein), gamma 4 NA NA cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of cell growth (GO:0030308)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268) extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886) signal transducer activity (GO:0004871) NS(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1) 8 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00168)|Prostate(94;0.0776)|Acute lymphoblastic leukemia(190;0.23) OV - Ovarian serous cystadenocarcinoma(106;0.000882) TGCCCCTAGAAGTAACCAAAG 0.512 NA A||| 2478 0.494808 0.3722 0.5231 5008 , , NA 20671 0.7996 NA 0.3767 False NA ,,, NA NA NA 2504 0.4479 NA NA NA NA 0 A ,, 1655,2751 503.5+/-365.6 310,1035,858 116 113 114 ,, 4.4 0 1 dbSNP_100 114 3087,5513 470.9+/-367.9 586,1915,1799 no intron,intron,intron GNG4 NM_001098721.1,NM_001098722.1,NM_004485.3 ,, 896,2950,2657 GG,GA,AA 35.8953,37.5624,36.4601 ,, ,, 235747154 4742,8264 2203 4300 6503 SO:0001627 intron_variant BC022485 CCDS1607.1 1q42.3 2008-02-05 ENSG00000168243 ENSG00000168243 2786 4407 protein-coding gene gene with protein product 604388 NA 7665596 Standard NM_004485 NM_001098721 NA Approved uc001hxh.4 P50150 OTTHUMG00000040740 ENST00000366598.4:c.10-6T>C chr1.hg19:g.235747154A>G NA hg19 CCDS1607.1 0.02 25.192003 AGAxGTA COVERED NOVEL GNG4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000097906.1 0 30.390355 KEEP 0 0 0 101 3198 AA 1 1 0 - 30 60 1128 0 0 77.586786 481 60 17678 760 ENST00000366598.4 0.058708 1 NID1 4811 __UNKNOWN__ __UNKNOWN__ 1 236139817 236139817 __UNKNOWN__ 3'UTR SNP C C T rs1048316 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:236139817C>T ENST00000264187.6 - 0 5176 NID1_ENST00000366595.3_3'UTR NM_002508.2 NP_002499.2 P14543 NID1_HUMAN nidogen 1 NA NA basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811) basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062) calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394) breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1) 66 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Urokinase(DB00013) ATCATCTCGACTCCTTTATCC 0.353 NA C||| 1541 0.307708 0.2564 0.245 5008 , , NA 18163 0.6131 NA 0.1431 False NA ,,, NA NA NA 2504 0.2761 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC045606 CCDS1608.1 1q43 2011-05-08 2005-06-02 2005-06-02 ENSG00000116962 ENSG00000116962 4811 7821 protein-coding gene gene with protein product 131390 nidogen (enactin) NID NA 2471408, 7557988 Standard NM_002508 NM_002508 NA Approved entactin uc001hxo.3 P14543 OTTHUMG00000040071 ENST00000264187.6:c.*1350G>A chr1.hg19:g.236139817C>T NA Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7 hg19 CCDS1608.1 0.02 11.351482 CGAxTCC COVERED NOVEL NID1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000096647.2 2 31.904772 KEEP 0 0 0 106 3838 CC 1 1 0 - 17 60 624 0 0 42.293048 278 60 10436 493 ENST00000264187.6 0.057627 1 NID1 4811 __UNKNOWN__ __UNKNOWN__ 1 236139894 236139894 __UNKNOWN__ 3'UTR SNP T T G rs1048311 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:236139894T>G ENST00000264187.6 - 0 5099 NID1_ENST00000366595.3_3'UTR NM_002508.2 NP_002499.2 P14543 NID1_HUMAN nidogen 1 NA NA basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811) basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062) calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394) breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1) 66 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Urokinase(DB00013) GTTTTAGGACTCTGGGAAGCA 0.338 NA T||| 1465 0.292532 0.2103 0.2305 5008 , , NA 19161 0.6131 NA 0.1382 False NA ,,, NA NA NA 2504 0.2761 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC045606 CCDS1608.1 1q43 2011-05-08 2005-06-02 2005-06-02 ENSG00000116962 ENSG00000116962 4811 7821 protein-coding gene gene with protein product 131390 nidogen (enactin) NID NA 2471408, 7557988 Standard NM_002508 NM_002508 NA Approved entactin uc001hxo.3 P14543 OTTHUMG00000040071 ENST00000264187.6:c.*1273A>C chr1.hg19:g.236139894T>G NA Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7 hg19 CCDS1608.1 0.02 8.346972 GACxCTG COVERED NOVEL NID1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000096647.2 3 25.852224 KEEP 0 0 0 86 2742 TT 1 1 0 - 14 60 480 0 0 31.808152 225 60 8213 384 ENST00000264187.6 0.058577 1 NID1 4811 __UNKNOWN__ __UNKNOWN__ 1 236140266 236140266 __UNKNOWN__ 3'UTR SNP A A C rs1048253 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:236140266A>C ENST00000264187.6 - 0 4727 NID1_ENST00000366595.3_3'UTR NM_002508.2 NP_002499.2 P14543 NID1_HUMAN nidogen 1 NA NA basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811) basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062) calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394) breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1) 66 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Urokinase(DB00013) ACATCAGTGCAAGCAGTGGGG 0.488 NA C||| 1953 0.389976 0.5499 0.2781 5008 , , NA 19378 0.6131 NA 0.1441 False NA ,,, NA NA NA 2504 0.2761 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC045606 CCDS1608.1 1q43 2011-05-08 2005-06-02 2005-06-02 ENSG00000116962 ENSG00000116962 4811 7821 protein-coding gene gene with protein product 131390 nidogen (enactin) NID NA 2471408, 7557988 Standard NM_002508 NM_002508 NA Approved entactin uc001hxo.3 P14543 OTTHUMG00000040071 ENST00000264187.6:c.*901T>G chr1.hg19:g.236140266A>C NA Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7 hg19 CCDS1608.1 0.02 11.774403 TGCxAGC COVERED NOVEL NID1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000096647.2 2 25.875785 KEEP 0 0 0 86 2662 AA 1 1 0 - 16 60 601 0 0 41.692516 242 60 8819 419 ENST00000264187.6 0.062016 1 NID1 4811 __UNKNOWN__ __UNKNOWN__ 1 236140739 236140739 __UNKNOWN__ 3'UTR SNP G G A rs873 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:236140739G>A ENST00000264187.6 - 0 4254 NID1_ENST00000366595.3_3'UTR NM_002508.2 NP_002499.2 P14543 NID1_HUMAN nidogen 1 NA NA basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811) basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062) calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394) breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1) 66 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Urokinase(DB00013) GTCAGGCCCCGGCTCATAGGT 0.463 NA G||| 1465 0.292532 0.2103 0.2291 5008 , , NA 19539 0.6141 NA 0.1382 False NA ,,, NA NA NA 2504 0.2761 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC045606 CCDS1608.1 1q43 2011-05-08 2005-06-02 2005-06-02 ENSG00000116962 ENSG00000116962 4811 7821 protein-coding gene gene with protein product 131390 nidogen (enactin) NID NA 2471408, 7557988 Standard NM_002508 NM_002508 NA Approved entactin uc001hxo.3 P14543 OTTHUMG00000040071 ENST00000264187.6:c.*428C>T chr1.hg19:g.236140739G>A NA Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7 hg19 CCDS1608.1 0.02 7.297656 CCCxGCT COVERED NOVEL NID1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000096647.2 0 25.279734 KEEP 0 0 0 84 2876 GG 1 1 0 - 14 60 517 0 0 37.54796 153 60 5219 321 ENST00000264187.6 0.083832 1 NID1 4811 __UNKNOWN__ __UNKNOWN__ 1 236141174 236141174 __UNKNOWN__ Missense_Mutation SNP T T C rs3213190 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:236141174T>C ENST00000264187.6 - 20 3819 c.3737A>G c.(3736-3738)cAg>cGg p.Q1246R NID1_ENST00000366595.3_Missense_Mutation_p.Q1113R NM_002508.2 NP_002499.2 P14543 NID1_HUMAN nidogen 1 1246 NA Q -> R (in dbSNP:rs3213190). {ECO:0000269|PubMed:2471408, ECO:0000269|PubMed:2574658, ECO:0000269|PubMed:7557988}. basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811) basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062) calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394) breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1) 66 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Urokinase(DB00013) TCTTCATTTCTGTTCGATACA 0.502 NA C||| 1724 0.344249 0.385 0.2608 5008 , , NA 21512 0.6131 NA 0.1451 False NA ,,, NA NA NA 2504 0.2761 NA NA NA NA 0 C ARG/GLN 1539,2867 671.9+/-402.5 257,1025,921 109 106 107 3737 2.8 1 1 dbSNP_106 107 1504,7096 748.1+/-407.3 123,1258,2919 yes missense NID1 NM_002508.2 43 380,2283,3840 CC,CT,TT 17.4884,34.9296,23.3969 benign 1246/1248 236141174 3043,9963 2203 4300 6503 SO:0001583 missense BC045606 CCDS1608.1 1q43 2011-05-08 2005-06-02 2005-06-02 ENSG00000116962 ENSG00000116962 4811 7821 protein-coding gene gene with protein product 131390 nidogen (enactin) NID NA 2471408, 7557988 Standard NM_002508 NM_002508 NA Approved entactin uc001hxo.3 P14543 OTTHUMG00000040071 ENST00000264187.6:c.3737A>G chr1.hg19:g.236141174T>C ENSP00000264187:p.Gln1246Arg NA Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7 hg19 CCDS1608.1 0.02 21.656933 TTCxGTT COVERED 712 0.326007326007326 174 0.35365853658536583 86 0.23756906077348067 348 0.6083916083916084 104 0.13720316622691292 C 5.517 0.280385 0.10458 0.349296 0.174884 ENSG00000116962 ENST00000264187;ENST00000366595 T;D 0.86769 -1.48;-2.17 5.67 2.79 0.32731 . 0.054020 0.64402 N 0.000001 T 0.00012 0.0000 N 0.00075 -2.25 0.58432 P 2.9999999999752447E-6 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.45440 -0.9261 9 0.02654 T 1 . 7.3131 0.26485 0.1194:0.6886:0.0:0.1919 rs3213190;rs3768077;rs60739893;rs3213190 1113;1246 P14543-2;P14543 .;NID1_HUMAN R 1246;1113 ENSP00000264187:Q1246R;ENSP00000355554:Q1113R ENSP00000264187:Q1246R Q - 2 0 NID1 234207797 0.971000 0.33674 0.953000 0.39169 0.928000 0.56348 0.131000 0.15870 0.072000 0.16694 -0.226000 0.12346 CAG NOVEL NID1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000096647.2 5 52.056366 KEEP 0 0 0 173 5450 TT 1 1 0 - 24 60 796 0 0 47.855159 548 70 20378 940 ENST00000264187.6 0.041958 1 NID1 4811 __UNKNOWN__ __UNKNOWN__ 1 236142253 236142253 __UNKNOWN__ Intron SNP T T G rs12032474 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:236142253T>G ENST00000264187.6 - 19 3705 NID1_ENST00000366595.3_Intron NM_002508.2 NP_002499.2 P14543 NID1_HUMAN nidogen 1 NA NA basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811) basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062) calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394) breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1) 66 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Urokinase(DB00013) TGAGCCTCCATGTGCCCCCAG 0.562 NA G||| 1722 0.34385 0.3843 0.2594 5008 , , NA 19066 0.6141 NA 0.1441 False NA ,,, NA NA NA 2504 0.2761 NA NA NA NA 0 G 1529,2877 672.8+/-402.7 253,1023,927 89 78 82 -0.5 0 1 dbSNP_120 82 1504,7096 747.9+/-407.3 123,1258,2919 no intron NID1 NM_002508.2 376,2281,3846 GG,GT,TT 17.4884,34.7027,23.32 236142253 3033,9973 2203 4300 6503 SO:0001627 intron_variant BC045606 CCDS1608.1 1q43 2011-05-08 2005-06-02 2005-06-02 ENSG00000116962 ENSG00000116962 4811 7821 protein-coding gene gene with protein product 131390 nidogen (enactin) NID NA 2471408, 7557988 Standard NM_002508 NM_002508 NA Approved entactin uc001hxo.3 P14543 OTTHUMG00000040071 ENST00000264187.6:c.3622+41A>C chr1.hg19:g.236142253T>G NA Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7 hg19 CCDS1608.1 0.02 9.605647 CCAxGTG COVERED NOVEL NID1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000096647.2 4 22.264424 KEEP 0 0 0 74 2252 TT 1 1 0 - 15 60 573 0 0 40.292812 218 60 8068 372 ENST00000264187.6 0.064378 1 NID1 4811 __UNKNOWN__ __UNKNOWN__ 1 236142570 236142570 __UNKNOWN__ Intron SNP C C G rs3738524 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:236142570C>G ENST00000264187.6 - 19 3592 NID1_ENST00000366595.3_Intron NM_002508.2 NP_002499.2 P14543 NID1_HUMAN nidogen 1 NA NA basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811) basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062) calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394) breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1) 66 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Urokinase(DB00013) GTGGGTCAAGCCTGCATTTCT 0.498 NA C||| 1492 0.297923 0.2269 0.2363 5008 , , NA 20114 0.6141 NA 0.1382 False NA ,,, NA NA NA 2504 0.2761 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC045606 CCDS1608.1 1q43 2011-05-08 2005-06-02 2005-06-02 ENSG00000116962 ENSG00000116962 4811 7821 protein-coding gene gene with protein product 131390 nidogen (enactin) NID NA 2471408, 7557988 Standard NM_002508 NM_002508 NA Approved entactin uc001hxo.3 P14543 OTTHUMG00000040071 ENST00000264187.6:c.3510-163G>C chr1.hg19:g.236142570C>G NA Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7 hg19 CCDS1608.1 0.02 5.118375 AAGxCTG COVERED NOVEL NID1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000096647.2 2 4.815557 KEEP 0 0 0 16 553 CC 0.997832 0.997823 0 - 5 60 196 0 0 13.174568 104 60 3763 126 ENST00000264187.6 0.045872 0.999992 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 236260557 236260557 __UNKNOWN__ IGR SNP G G A rs4006428 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:236260557G>A NA NA NID1 (32095 upstream) : GPR137B (45274 downstream) NA NA NA Ggagcaggcggccaggggtga 0.642 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.236260557G>A NA hg19 0.02 -0.333368 GCGxCCA COVERED NOVEL 0 0 3.645028 KEEP 26 1 25 21 722 GG 0.99986 0.865624 0 4 20 128 0 0 9.206599 33 20 1194 138 0.108108 0.865745 ERO1LB 56605 __UNKNOWN__ __UNKNOWN__ 1 236378916 236378916 __UNKNOWN__ 3'UTR SNP T T C rs1111667 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:236378916T>C ENST00000354619.5 - 0 4505 GPR137B_ENST00000477559.1_Intron NM_019891.3 NP_063944.3 Q86YB8 ERO1B_HUMAN ERO1-like beta (S. cerevisiae) NA NA 4-hydroxyproline metabolic process (GO:0019471)|cell redox homeostasis (GO:0045454)|extracellular matrix organization (GO:0030198)|glucose homeostasis (GO:0042593)|insulin processing (GO:0030070)|protein folding (GO:0006457)|protein maturation by protein folding (GO:0022417) endoplasmic reticulum (GO:0005783)|membrane (GO:0016020) oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|unfolded protein binding (GO:0051082) NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1) 23 Ovarian(103;0.0634)|Breast(184;0.247) all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Flavin adenine dinucleotide(DB03147) CAGTAAATTATTTGGAATTCT 0.318 NA T||| 1421 0.283746 0.5371 0.2853 5008 , , NA 19638 0.2083 NA 0.1362 False NA ,,, NA NA NA 2504 0.1697 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF252538 CCDS31064.1 1q42.2-q43 2008-02-05 ENSG00000086619 ENSG00000086619 56605 14355 protein-coding gene gene with protein product 615437 NA 10818100 Standard NM_019891 NM_019891 NA Approved ERO1-L(beta) uc001hxt.3 Q86YB8 OTTHUMG00000039955 ENST00000354619.5:c.*2900A>G chr1.hg19:g.236378916T>C NA B4DF57|Q5T1H4|Q8IZ11|Q9NR62 hg19 CCDS31064.1 0.02 4.485735 TTAxTTG COVERED NOVEL ERO1LB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000096371.1 2 10.533023 KEEP 0 0 0 35 1148 TT 0.999999 0.999999 0 - 6 60 233 0 0 15.279615 141 60 5057 223 ENST00000354619.5 0.040816 1 EDARADD 128178 __UNKNOWN__ __UNKNOWN__ 1 236572475 236572475 __UNKNOWN__ Intron SNP A A G rs669710 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:236572475A>G ENST00000359362.5 + 2 245 EDARADD_ENST00000334232.4_Intron NM_080738.3 NP_542776.1 Q8WWZ3 EDAD_HUMAN EDAR-associated death domain NA NA cell differentiation (GO:0030154)|hair follicle development (GO:0001942)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)|trachea gland development (GO:0061153) cytoplasm (GO:0005737) endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1) 12 Ovarian(103;0.0634)|Breast(184;0.247) all_cancers(173;0.0232)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00117) TTTAAATTAAAGCAAACCCGC 0.333 NA A||| 2313 0.461861 0.4584 0.4899 5008 , , NA 15840 0.2927 NA 0.5785 False NA ,,, NA NA NA 2504 0.501 NA NA NA NA 0 A , 2089,2317 508,1073,622 56 57 57 , -0.6 0 1 dbSNP_83 57 4996,3604 1466,2064,770 no intron,intron EDARADD NM_080738.3,NM_145861.2 , 1974,3137,1392 GG,GA,AA 41.907,47.4126,45.5251 , , 236572475 7085,5921 2203 4300 6503 SO:0001627 intron_variant AY028914 CCDS1610.1, CCDS31065.1 1q42.3 2013-05-22 ENSG00000186197 ENSG00000186197 128178 14341 protein-coding gene gene with protein product 606603 NA 11780064 Standard NM_145861 NM_145861 NA Approved uc001hxu.1 Q8WWZ3 OTTHUMG00000039954 ENST00000359362.5:c.32-41A>G chr1.hg19:g.236572475A>G NA A2VCK5|A8K7B5|B1AL54|B9ZVW5|Q5VYJ7 hg19 CCDS31065.1 0.02 24.821929 TAAxGCA COVERED NOVEL EDARADD-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000096369.2 1 7.156277 KEEP 0 1 32 35 1121 AA 0.999999 0.999999 0 + 24 60 943 1 0 63.54512 495 60 18060 651 ENST00000359362.5 0.046243 1 EDARADD 128178 __UNKNOWN__ __UNKNOWN__ 1 236590563 236590563 __UNKNOWN__ Intron SNP C C T rs1778861 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:236590563C>T ENST00000359362.5 + 4 344 EDARADD_ENST00000334232.4_Intron NM_080738.3 NP_542776.1 Q8WWZ3 EDAD_HUMAN EDAR-associated death domain NA NA cell differentiation (GO:0030154)|hair follicle development (GO:0001942)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)|trachea gland development (GO:0061153) cytoplasm (GO:0005737) endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1) 12 Ovarian(103;0.0634)|Breast(184;0.247) all_cancers(173;0.0232)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00117) gtagtccagcccttctgattt 0.413 NA C||| 1794 0.358227 0.1316 0.4481 5008 , , NA 15483 0.2619 NA 0.5815 False NA ,,, NA NA NA 2504 0.4703 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY028914 CCDS1610.1, CCDS31065.1 1q42.3 2013-05-22 ENSG00000186197 ENSG00000186197 128178 14341 protein-coding gene gene with protein product 606603 NA 11780064 Standard NM_145861 NM_145861 NA Approved uc001hxu.1 Q8WWZ3 OTTHUMG00000039954 ENST00000359362.5:c.131-129C>T chr1.hg19:g.236590563C>T NA A2VCK5|A8K7B5|B1AL54|B9ZVW5|Q5VYJ7 hg19 CCDS31065.1 0.02 1.786437 AGCxCTT COVERED NOVEL EDARADD-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000096369.2 0 3.611818 KEEP 0 0 0 12 429 CC 0.993634 0.992857 0 + 4 60 148 0 0 9.813457 76 60 2774 114 ENST00000359362.5 0.05 0.999218 LGALS8 3964 __UNKNOWN__ __UNKNOWN__ 1 236687782 236687782 __UNKNOWN__ Intron SNP A A G rs3820564 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:236687782A>G ENST00000526589.1 + 4 417 LGALS8_ENST00000527974.1_Intron|LGALS8_ENST00000323938.6_Intron|LGALS8_ENST00000352231.2_Intron|LGALS8_ENST00000416919.2_Intron|LGALS8_ENST00000341872.6_Intron|LGALS8-AS1_ENST00000493812.2_RNA|LGALS8_ENST00000450372.2_Intron|LGALS8_ENST00000366584.4_Intron|LGALS8-AS1_ENST00000487567.1_RNA O00214 LEG8_HUMAN lectin, galactoside-binding, soluble, 8 NA NA plasma cell differentiation (GO:0002317)|T cell costimulation (GO:0031295) cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) carbohydrate binding (GO:0030246) kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(5) 20 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.0253)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00117) TTGTAGTGACAGTGGAGTGAC 0.532 NA A||| 575 0.114816 0.2723 0.0432 5008 , , NA 19973 0.1121 NA 0.0338 False NA ,,, NA NA NA 2504 0.0389 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X91790 CCDS1611.1, CCDS1612.1 1q43 2011-08-04 2008-07-25 ENSG00000116977 ENSG00000116977 3964 Lectins, galactoside-binding 6569 protein-coding gene gene with protein product galectin 8 606099 NA 7852431, 8692978 Standard NM_006499 NM_201545 NA Approved PCTA-1 uc001hxy.2 O00214 OTTHUMG00000039953 ENST00000526589.1:c.-104+421A>G chr1.hg19:g.236687782A>G NA O15215|Q5T3P5|Q5T3Q4|Q8TEV1|Q96B92|Q9BXC8|Q9H584|Q9H585|Q9UEZ6|Q9UP32|Q9UP33|Q9UP34 hg19 CCDS1611.1 0.02 5.810414 GACxGTG COVERED NOVEL LGALS8-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000096364.4 2 28.882416 KEEP 0 0 0 96 2944 AA 1 1 0 + 8 60 281 0 0 17.339033 192 60 7115 364 ENST00000526589.1 0.04 1 HEATR1 55127 __UNKNOWN__ __UNKNOWN__ 1 236713287 236713287 __UNKNOWN__ 3'UTR SNP A A T rs10077 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:236713287A>T ENST00000366582.3 - 0 7464 LGALS8_ENST00000366584.4_3'UTR|RP11-385F5.4_ENST00000433131.1_RNA|LGALS8_ENST00000526589.1_3'UTR NM_018072.5 NP_060542.4 Q9H583 HEAT1_HUMAN HEAT repeat containing 1 NA NA rRNA processing (GO:0006364) membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529) poly(A) RNA binding (GO:0044822) NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 87 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) AGGCTTTTAAACTCAATGCGA 0.393 NA A||| 691 0.137979 0.2216 0.1225 5008 , , NA 18024 0.1806 NA 0.0318 False NA ,,, NA NA NA 2504 0.1012 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC065205 CCDS31066.1 1q43 2011-08-12 ENSG00000119285 ENSG00000119285 55127 25517 protein-coding gene gene with protein product UTP10, small subunit (SSU) processome component, homolog (yeast) NA 17699751 Standard XM_375853 NM_018072 NA Approved FLJ10359, BAP28, UTP10 uc001hyd.2 Q9H583 OTTHUMG00000040061 ENST00000366582.3:c.*915T>A chr1.hg19:g.236713287A>T NA Q5T3Q8|Q6P197|Q9NW23 hg19 CCDS31066.1 0.02 5.909706 TAAxCTC COVERED NOVEL HEATR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000096635.1 1 10.228362 KEEP 0 0 0 34 1038 AA 0.999998 0.999998 0 - 6 60 223 0 0 13.464494 194 60 6826 264 ENST00000366582.3 0.03 1 HEATR1 55127 __UNKNOWN__ __UNKNOWN__ 1 236723108 236723108 __UNKNOWN__ Missense_Mutation SNP C C T rs6661946 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:236723108C>T ENST00000366582.3 - 34 4790 c.4676G>A c.(4675-4677)aGt>aAt p.S1559N HEATR1_ENST00000366581.2_Missense_Mutation_p.S1478N NM_018072.5 NP_060542.4 Q9H583 HEAT1_HUMAN HEAT repeat containing 1 1559 NA S -> N (in dbSNP:rs6661946). rRNA processing (GO:0006364) membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529) poly(A) RNA binding (GO:0044822) NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 87 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) TGCAACTGCACTGATATAGCC 0.502 NA T||| 860 0.171725 0.3684 0.1398 5008 , , NA 17205 0.1766 NA 0.0328 False NA ,,, NA NA NA 2504 0.0665 NA NA NA NA 0 T ASN/SER 1397,3009 687.6+/-404.9 210,977,1016 117 96 103 4676 4.6 0 1 dbSNP_116 103 339,8261 804.4+/-407.3 3,333,3964 yes missense HEATR1 NM_018072.5 46 213,1310,4980 TT,TC,CC 3.9419,31.7068,13.3477 benign 1559/2145 236723108 1736,11270 2203 4300 6503 SO:0001583 missense BC065205 CCDS31066.1 1q43 2011-08-12 ENSG00000119285 ENSG00000119285 55127 25517 protein-coding gene gene with protein product UTP10, small subunit (SSU) processome component, homolog (yeast) NA 17699751 Standard XM_375853 NM_018072 NA Approved FLJ10359, BAP28, UTP10 uc001hyd.2 Q9H583 OTTHUMG00000040061 ENST00000366582.3:c.4676G>A chr1.hg19:g.236723108C>T ENSP00000355541:p.Ser1559Asn NA Q5T3Q8|Q6P197|Q9NW23 hg19 CCDS31066.1 0.02 4.296457 GCAxTGA COVERED 330 0.1510989010989011 171 0.3475609756097561 45 0.12430939226519337 93 0.16258741258741258 21 0.027704485488126648 T 4.221 0.039925 0.08148 0.317068 0.039419 ENSG00000119285 ENST00000366582;ENST00000366581 T;T 0.30448 1.53;1.53 5.74 4.59 0.56863 Armadillo-like helical (1);Armadillo-type fold (1); 0.326894 0.35708 N 0.003034 T 0.00012 0.0000 N 0.00237 -1.79 0.18873 P 0.9999890781 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.41945 -0.9480 9 0.07813 T 0.8 . 7.7065 0.28653 0.1247:0.0683:0.0:0.807 rs6661946;rs56728358;rs6661946 1478;1559 Q5T3Q7;Q9H583 .;HEAT1_HUMAN N 1559;1478 ENSP00000355541:S1559N;ENSP00000355540:S1478N ENSP00000355540:S1478N S - 2 0 HEATR1 234789731 0.999000 0.42202 0.001000 0.08648 0.012000 0.07955 3.763000 0.55257 0.429000 0.26202 -0.390000 0.06520 AGT NOVEL HEATR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000096635.1 1 10.834798 KEEP 0 0 0 36 1278 CC 0.999999 0.999998 0 - 6 60 224 0 0 14.875922 116 60 4385 190 ENST00000366582.3 0.04918 0.999999 HEATR1 55127 __UNKNOWN__ __UNKNOWN__ 1 236737983 236737983 __UNKNOWN__ Missense_Mutation SNP A A G rs79225714 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:236737983A>G ENST00000366582.3 - 23 3419 c.3305T>C c.(3304-3306)aTt>aCt p.I1102T HEATR1_ENST00000366581.2_Intron NM_018072.5 NP_060542.4 Q9H583 HEAT1_HUMAN HEAT repeat containing 1 1102 NA rRNA processing (GO:0006364) membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529) poly(A) RNA binding (GO:0044822) NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 87 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) TGTGATCTGAATGGTTGGCAT 0.388 NA A||| 338 0.067492 0.0356 0.0879 5008 , , NA 17639 0.1756 NA 0.0139 False NA ,,, NA NA NA 2504 0.0399 NA NA NA NA 0 A THR/ILE 125,4279 91.1+/-129.8 1,123,2078 79 84 83 3305 4.7 0.9 1 dbSNP_131 83 92,8506 50.6+/-110.7 1,90,4208 yes missense HEATR1 NM_018072.5 89 2,213,6286 GG,GA,AA 1.07,2.8383,1.669 benign 1102/2145 236737983 217,12785 2202 4299 6501 SO:0001583 missense BC065205 CCDS31066.1 1q43 2011-08-12 ENSG00000119285 ENSG00000119285 55127 25517 protein-coding gene gene with protein product UTP10, small subunit (SSU) processome component, homolog (yeast) NA 17699751 Standard XM_375853 NM_018072 NA Approved FLJ10359, BAP28, UTP10 uc001hyd.2 Q9H583 OTTHUMG00000040061 ENST00000366582.3:c.3305T>C chr1.hg19:g.236737983A>G ENSP00000355541:p.Ile1102Thr NA Q5T3Q8|Q6P197|Q9NW23 hg19 CCDS31066.1 0.02 11.193581 TGAxTGG COVERED 143 0.06547619047619048 22 0.044715447154471545 20 0.055248618784530384 92 0.16083916083916083 9 0.011873350923482849 A 11.18 1.561993 0.27915 0.028383 0.0107 ENSG00000119285 ENST00000366582 T 0.65549 -0.16 5.84 4.73 0.59995 Armadillo-type fold (1); 0.879348 0.10292 N 0.692195 T 0.00210 0.0006 N 0.12182 0.205 0.19300 P 0.9999701146 B 0.02656 0.0 B 0.01281 0.0 T 0.03354 -1.1045 9 0.28530 T 0.3 . 8.6024 0.33754 0.8574:0.0:0.1426:0.0 . 1102 Q9H583 HEAT1_HUMAN T 1102 ENSP00000355541:I1102T ENSP00000355541:I1102T I - 2 0 HEATR1 234804606 0.995000 0.38212 0.914000 0.36105 0.996000 0.88848 3.543000 0.53633 2.228000 0.72767 0.533000 0.62120 ATT NOVEL HEATR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000096635.1 2 21.666316 KEEP 0 0 0 72 2331 AA 1 1 0 - 8 60 309 0 0 19.262116 248 60 9082 426 ENST00000366582.3 0.03125 1 HEATR1 55127 __UNKNOWN__ __UNKNOWN__ 1 236751269 236751269 __UNKNOWN__ Silent SNP C C T rs78459283 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:236751269C>T ENST00000366582.3 - 13 1719 c.1605G>A c.(1603-1605)ttG>ttA p.L535L HEATR1_ENST00000366581.2_Silent_p.L535L NM_018072.5 NP_060542.4 Q9H583 HEAT1_HUMAN HEAT repeat containing 1 535 NA rRNA processing (GO:0006364) membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529) poly(A) RNA binding (GO:0044822) NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 87 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) TTATAGCCGACAAAACAACAT 0.348 NA C||| 337 0.0672923 0.0356 0.0879 5008 , , NA 17353 0.1756 NA 0.0139 False NA ,,, NA NA NA 2504 0.0389 NA NA NA NA 0 C 125,4281 91.6+/-130.3 1,123,2079 126 118 121 1605 1.8 0.6 1 dbSNP_131 121 91,8505 51.5+/-111.7 1,89,4208 no coding-synonymous HEATR1 NM_018072.5 2,212,6287 TT,TC,CC 1.0586,2.837,1.6613 535/2145 236751269 216,12786 2203 4298 6501 SO:0001819 synonymous_variant BC065205 CCDS31066.1 1q43 2011-08-12 ENSG00000119285 ENSG00000119285 55127 25517 protein-coding gene gene with protein product UTP10, small subunit (SSU) processome component, homolog (yeast) NA 17699751 Standard XM_375853 NM_018072 NA Approved FLJ10359, BAP28, UTP10 uc001hyd.2 Q9H583 OTTHUMG00000040061 ENST00000366582.3:c.1605G>A chr1.hg19:g.236751269C>T NA Q5T3Q8|Q6P197|Q9NW23 hg19 CCDS31066.1 0.02 6.305351 CGAxAAA COVERED NOVEL HEATR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000096635.1 1 11.136543 KEEP 0 0 0 37 1329 CC 1 1 0 - 7 60 251 0 0 15.445597 182 60 6932 286 ENST00000366582.3 0.037037 1 ACTN2 88 __UNKNOWN__ __UNKNOWN__ 1 236912597 236912597 __UNKNOWN__ Intron SNP A A G rs2297955 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:236912597A>G ENST00000366578.4 + 14 1822 ACTN2_ENST00000546208.1_Intron|ACTN2_ENST00000542672.1_Intron NM_001103.2|NM_001278343.1 NP_001094.1|NP_001265272.1 P35609 ACTN2_HUMAN actinin, alpha 2 NA NA blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268) actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018) calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080) endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3) 86 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) TGCCCTATGCATTAGAAGTGA 0.388 NA A||| 951 0.189896 0.2383 0.2133 5008 , , NA 19253 0.2351 NA 0.0835 False NA ,,, NA NA NA 2504 0.1708 NA NA NA NA 0 A 1012,3394 374.4+/-321.2 118,776,1309 59 52 55 -2.7 0 1 dbSNP_100 55 923,7677 203.4+/-246.4 52,819,3429 no intron ACTN2 NM_001103.2 170,1595,4738 GG,GA,AA 10.7326,22.9687,14.8777 236912597 1935,11071 2203 4300 6503 SO:0001627 intron_variant BC047901 CCDS1613.1, CCDS60455.1, CCDS73053.1 1q42-q43 2014-09-17 ENSG00000077522 ENSG00000077522 88 EF-hand domain containing 164 protein-coding gene gene with protein product 102573 NA 1339456 Standard NM_001103 NM_001103 NA Approved uc001hyf.2 P35609 OTTHUMG00000040059 ENST00000366578.4:c.1656+33A>G chr1.hg19:g.236912597A>G NA B1ANE4|B2RCS5|Q86TF4|Q86TI8 hg19 CCDS1613.1 0.02 4.267373 TGCxTTA COVERED NOVEL ACTN2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000096628.1 0 5.114751 KEEP 0 0 0 17 523 AA 0.999366 0.999363 0 + 5 60 187 0 0 12.157372 110 60 3979 157 ENST00000366578.4 0.043478 0.999997 MTR 4548 __UNKNOWN__ __UNKNOWN__ 1 237038007 237038007 __UNKNOWN__ Intron SNP T T A rs11809449|rs560616924 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:237038007T>A ENST00000366577.5 + 24 2867 MTR_ENST00000535889.1_Intron NM_000254.2 NP_000245.2 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase NA NA cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805) cytosol (GO:0005829) cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 67 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) CCttttttttttaaaaaaaaa 0.323 NA NA NA NA NA NA NA NA NA NA NA 0 10 10 10 NA NA 1 NA 237038007 2175 4270 6445 SO:0001627 intron_variant U73338 CCDS1614.1, CCDS73054.1 1q43 2011-05-12 ENSG00000116984 ENSG00000116984 4548 2.1.1.13 7468 protein-coding gene gene with protein product 156570 NA 8968735 Standard NM_000254 NM_000254 NA Approved cblG uc001hyi.4 Q99707 OTTHUMG00000040060 ENST00000366577.5:c.2474-19T>A chr1.hg19:g.237038007T>A NA A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723 hg19 CCDS1614.1 0.02 -0.342145 TTTxTAA COVERED NOVEL MTR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000096632.2 1 3.644224 KEEP 0 1 19 19 573 TT 0.999863 0.865627 0 + 3 60 102 1 1 7.14966 33 70 1188 73 ENST00000366577.5 0.083333 0.865745 MTR 4548 __UNKNOWN__ __UNKNOWN__ 1 237061097 237061097 __UNKNOWN__ 3'UTR SNP A A G rs11799670 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:237061097A>G ENST00000366577.5 + 0 4345 MTR_ENST00000470570.1_3'UTR|MTR_ENST00000535889.1_3'UTR NM_000254.2 NP_000245.2 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase NA NA cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805) cytosol (GO:0005829) cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 67 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) GGAACCTTGTAGAGGAGCAGG 0.488 NA A||| 566 0.113019 0.239 0.0548 5008 , , NA 17027 0.0377 NA 0.0189 False NA ,,, NA NA NA 2504 0.1585 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U73338 CCDS1614.1, CCDS73054.1 1q43 2011-05-12 ENSG00000116984 ENSG00000116984 4548 2.1.1.13 7468 protein-coding gene gene with protein product 156570 NA 8968735 Standard NM_000254 NM_000254 NA Approved cblG uc001hyi.4 Q99707 OTTHUMG00000040060 ENST00000366577.5:c.*153A>G chr1.hg19:g.237061097A>G NA A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723 hg19 CCDS1614.1 0.02 22.029939 TGTxGAG COVERED NOVEL MTR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000096632.2 2 12.035857 KEEP 0 0 0 40 1247 AA 1 1 0 + 17 60 657 0 0 42.004855 457 60 17031 581 ENST00000366577.5 0.035865 1 RYR2 6262 __UNKNOWN__ __UNKNOWN__ 1 237918506 237918506 __UNKNOWN__ Intron SNP T T A rs6670609 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:237918506T>A ENST00000366574.2 + 81 11462 RYR2_ENST00000542537.1_Intron|RYR2_ENST00000360064.6_Intron|RYR2_ENST00000609119.1_Intron NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) NA NA BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005) calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018) calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CCCCTCCTTTTAGTTCACTTT 0.338 NA T||| 173 0.0345447 0.0144 0.0101 5008 , , NA 17864 0.0754 NA 0.0298 False NA ,,, NA NA NA 2504 0.0419 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X91869 CCDS55691.1 1q43 2014-09-17 ENSG00000198626 ENSG00000198626 6262 Ion channels / Ryanodine receptors, EF-hand domain containing 10484 protein-coding gene gene with protein product 180902 arrhythmogenic right ventricular dysplasia 2 ARVD2 NA 2380170, 8406504, 11159936 Standard NM_001035 NM_001035 NA Approved ARVC2, VTSIP uc001hyl.1 Q92736 OTTHUMG00000039543 ENST00000366574.2:c.11146-1082T>A chr1.hg19:g.237918506T>A NA Q15411|Q546N8|Q5T3P2 hg19 CCDS55691.1 0.02 10.566798 TTTxAGT COVERED NOVEL RYR2-001 KNOWN non_canonical_conserved|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000095402.2 1 14.444125 KEEP 0 0 0 48 1519 TT 1 1 0 + 11 60 404 0 0 25.47794 271 60 9756 388 ENST00000366574.2 0.039007 1 RYR2 6262 __UNKNOWN__ __UNKNOWN__ 1 237949147 237949147 __UNKNOWN__ Intron SNP G G A rs117613944 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:237949147G>A ENST00000366574.2 + 91 13577 RYR2_ENST00000542537.1_Intron|RYR2_ENST00000360064.6_Intron|RYR2_ENST00000609119.1_Intron NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) NA NA BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005) calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018) calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CGCTTTTATCGTGGTATAAGC 0.443 NA G||| 11 0.00219649 0.0 0.0 5008 , , NA 16774 0.0109 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X91869 CCDS55691.1 1q43 2014-09-17 ENSG00000198626 ENSG00000198626 6262 Ion channels / Ryanodine receptors, EF-hand domain containing 10484 protein-coding gene gene with protein product 180902 arrhythmogenic right ventricular dysplasia 2 ARVD2 NA 2380170, 8406504, 11159936 Standard NM_001035 NM_001035 NA Approved ARVC2, VTSIP uc001hyl.1 Q92736 OTTHUMG00000039543 ENST00000366574.2:c.13261-122G>A chr1.hg19:g.237949147G>A NA Q15411|Q546N8|Q5T3P2 hg19 CCDS55691.1 0.02 4.285726 ATCxTGG COVERED NOVEL RYR2-001 KNOWN non_canonical_conserved|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000095402.2 0 3.610029 KEEP 0 0 0 12 375 GG 0.993634 0.993634 0 + 6 60 226 0 0 14.579952 141 60 4717 170 ENST00000366574.2 0.040816 1 RYR2 6262 __UNKNOWN__ __UNKNOWN__ 1 237982270 237982270 __UNKNOWN__ Intron SNP C C T rs2275691 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:237982270C>T ENST00000366574.2 + 101 14750 RYR2_ENST00000542537.1_Intron|RYR2_ENST00000360064.6_Intron NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) NA NA BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005) calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018) calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AGAGATAACTCGGGTTTGTCG 0.373 NA C||| 884 0.176518 0.3374 0.0663 5008 , , NA 21378 0.2123 NA 0.0089 False NA ,,, NA NA NA 2504 0.1728 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X91869 CCDS55691.1 1q43 2014-09-17 ENSG00000198626 ENSG00000198626 6262 Ion channels / Ryanodine receptors, EF-hand domain containing 10484 protein-coding gene gene with protein product 180902 arrhythmogenic right ventricular dysplasia 2 ARVD2 NA 2380170, 8406504, 11159936 Standard NM_001035 NM_001035 NA Approved ARVC2, VTSIP uc001hyl.1 Q92736 OTTHUMG00000039543 ENST00000366574.2:c.14434-66C>T chr1.hg19:g.237982270C>T NA Q15411|Q546N8|Q5T3P2 hg19 CCDS55691.1 0.02 4.231772 ACTxGGG COVERED NOVEL RYR2-001 KNOWN non_canonical_conserved|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000095402.2 1 2.407916 KEEP 0 0 0 8 285 CC 0.99257 0.992569 0 + 8 60 291 0 0 20.185956 111 60 4065 144 ENST00000366574.2 0.067227 0.999999 RYR2 6262 __UNKNOWN__ __UNKNOWN__ 1 237995832 237995832 __UNKNOWN__ Intron SNP C C T rs141119268 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:237995832C>T ENST00000366574.2 + 105 15125 RYR2_ENST00000542537.1_Intron|RYR2_ENST00000360064.6_Intron NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) NA NA BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005) calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018) calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AATGTTAATACATTTCCTTGA 0.378 NA C||| 50 0.00998403 0.0 0.0 5008 , , NA 18478 0.0119 NA 0.0 False NA ,,, NA NA NA 2504 0.0389 NA NA NA NA 0 C 1,3735 0,1,1867 75 72 73 -0.8 0 1 dbSNP_134 73 0,8244 0,0,4122 no intron RYR2 NM_001035.2 0,1,5989 TT,TC,CC 0.0,0.0268,0.0083 237995832 1,11979 1868 4122 5990 SO:0001627 intron_variant X91869 CCDS55691.1 1q43 2014-09-17 ENSG00000198626 ENSG00000198626 6262 Ion channels / Ryanodine receptors, EF-hand domain containing 10484 protein-coding gene gene with protein product 180902 arrhythmogenic right ventricular dysplasia 2 ARVD2 NA 2380170, 8406504, 11159936 Standard NM_001035 NM_001035 NA Approved ARVC2, VTSIP uc001hyl.1 Q92736 OTTHUMG00000039543 ENST00000366574.2:c.14809-20C>T chr1.hg19:g.237995832C>T NA Q15411|Q546N8|Q5T3P2 hg19 CCDS55691.1 0.02 14.559616 ATAxATT COVERED NOVEL RYR2-001 KNOWN non_canonical_conserved|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000095402.2 3 5.115977 KEEP 0 0 0 17 571 CC 0.999366 0.999366 0 + 11 60 400 0 0 23.897333 349 60 12834 394 ENST00000366574.2 0.030556 1 RP11-193H5.1 0 __UNKNOWN__ __UNKNOWN__ 1 238045590 238045590 __UNKNOWN__ RNA SNP C C T rs2794813 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:238045590C>T ENST00000450451.1 + 0 307 NR_027247.2 NA NA NA GTATCAGTTTCTATTCTATTC 0.318 NA T||| 2746 0.548323 0.6906 0.4063 5008 , , NA 20989 0.6458 NA 0.3499 False NA ,,, NA NA NA 2504 0.5603 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000450451.1: chr1.hg19:g.238045590C>T NA hg19 0.02 6.663556 TTTxTAT COVERED NOVEL RP11-193H5.1-001 KNOWN basic antisense NA antisense OTTHUMT00000095477.1 0 3.009116 KEEP 0 0 0 10 328 CC 0.992708 0.992708 0 + 13 60 470 0 0 33.236483 158 60 5817 181 ENST00000450451.1 0.076023 1 ZP4 57829 __UNKNOWN__ __UNKNOWN__ 1 238045995 238045995 __UNKNOWN__ Intron SNP T T C rs2275694 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:238045995T>C ENST00000366570.4 - 11 1654 RP11-193H5.1_ENST00000450451.1_RNA NM_021186.3 NP_067009.1 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 NA NA acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338) extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578) acrosin binding (GO:0032190)|signal transducer activity (GO:0004871) breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) TTGCTTTGATTAGTAATTTAG 0.428 NA T||| 1507 0.300919 0.3707 0.1916 5008 , , NA 19042 0.4276 NA 0.2107 False NA ,,, NA NA NA 2504 0.2464 NA NA NA NSCLC(166;160 2029 11600 18754 19936) NA 0 T 1503,2903 477.4+/-357.9 246,1011,946 84 81 82 -0.5 0 1 dbSNP_100 82 1882,6718 335.8+/-321.6 231,1420,2649 no intron ZP4 NM_021186.3 477,2431,3595 CC,CT,TT 21.8837,34.1126,26.0264 238045995 3385,9621 2203 4300 6503 SO:0001627 intron_variant U05781 CCDS1615.1 1q43 2013-01-17 ENSG00000116996 ENSG00000116996 57829 Zona pellucida glycoproteins 15770 protein-coding gene gene with protein product 613514 NA 7841460 Standard NM_021186 NA Approved ZPB uc001hym.3 Q12836 OTTHUMG00000039586 ENST00000366570.4:c.1495+46A>G chr1.hg19:g.238045995T>C NA B2RAE1 hg19 CCDS1615.1 0.02 6.810811 GATxAGT COVERED NOVEL ZP4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000095476.1 1 2.405861 KEEP 0 0 0 8 225 TT 0.99257 0.99257 0 - 10 60 358 0 0 23.892483 167 60 5979 201 ENST00000366570.4 0.056497 1 FMN2 56776 __UNKNOWN__ __UNKNOWN__ 1 240637571 240637571 __UNKNOWN__ 3'UTR SNP A A G rs882869 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:240637571A>G ENST00000319653.9 + 0 5516 FMN2_ENST00000496950.1_3'UTR|AL646016.1_ENST00000596886.1_Intron|FMN2_ENST00000545751.1_3'UTR NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 NA NA cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192) cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819) actin binding (GO:0003779) NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) GACCTCTTGCATAATCTTTTT 0.363 NA A||| 1503 0.30012 0.093 0.4092 5008 , , NA 17074 0.4851 NA 0.326 False NA ,,, NA NA NA 2504 0.2853 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF218942 CCDS31069.2 1q43 2008-02-05 ENSG00000155816 ENSG00000155816 56776 14074 protein-coding gene gene with protein product 606373 NA 10781961 Standard XM_371352 NM_020066 NA Approved uc010pyd.2 Q9NZ56 OTTHUMG00000039883 ENST00000319653.9:c.*117A>G chr1.hg19:g.240637571A>G NA B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55 hg19 CCDS31069.2 0.02 27.59817 TGCxTAA COVERED NOVEL FMN2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000096217.2 1 22.801398 KEEP 0 1 29 86 2680 AA 1 1 0 + 35 60 1300 0 0 88.806387 564 60 20945 818 ENST00000319653.9 0.058431 1 AL646016.1 0 __UNKNOWN__ __UNKNOWN__ 1 240643435 240643435 __UNKNOWN__ Intron SNP A A T rs12748248 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:240643435A>T ENST00000596886.1 - 1 26 NA NA NA gtgaaaccatacccttgggag 0.418 NA A||| 1894 0.378195 0.2852 0.4582 5008 , , NA 19593 0.4821 NA 0.3897 False NA ,,, NA NA NA 2504 0.3282 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000596886.1:c.26+43T>A chr1.hg19:g.240643435A>T NA hg19 0.02 4.346744 CATxCCC COVERED NOVEL AL646016.1-201 NOVEL basic|appris_principal protein_coding NA protein_coding 1 3.606616 KEEP 0 0 0 12 322 AA 0.993634 0.993621 0 - 6 60 187 0 0 11.833817 100 60 3290 125 ENST00000596886.1 0.056604 0.999987 GREM2 64388 __UNKNOWN__ __UNKNOWN__ 1 240654931 240654931 __UNKNOWN__ 3'UTR SNP C C A rs3748536 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:240654931C>A ENST00000318160.4 - 0 2111 NM_022469.3 NP_071914.3 Q9H772 GREM2_HUMAN gremlin 2, DAN family BMP antagonist NA NA BMP signaling pathway (GO:0030509)|cytokine-mediated signaling pathway (GO:0019221)|determination of dorsal identity (GO:0048263)|embryonic body morphogenesis (GO:0010172)|regulation of cytokine activity (GO:0060300)|sequestering of BMP from receptor via BMP binding (GO:0038098) extracellular region (GO:0005576)|extracellular space (GO:0005615) heparin binding (GO:0008201) endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 10 all_cancers(173;0.0196) OV - Ovarian serous cystadenocarcinoma(106;0.0123) AACAGTTCAACTAGATTACTA 0.328 NA C||| 918 0.183307 0.087 0.1268 5008 , , NA 18658 0.3105 NA 0.1123 False NA ,,, NA NA NA 2504 0.2955 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK024848 CCDS31070.1 1q43 2013-02-26 2013-02-26 ENSG00000180875 ENSG00000180875 64388 17655 protein-coding gene gene with protein product protein related to DAN and cerberus 608832 gremlin 2, cysteine knot superfamily, homolog (Xenopus laevis), gremlin 2 NA 15039429 Standard NM_022469 XM_005273226 NA Approved Prdc, FLJ21195, CKTSF1B2, DAND3 uc001hys.3 Q9H772 OTTHUMG00000039909 ENST00000318160.4:c.*1338G>T chr1.hg19:g.240654931C>A NA Q86UD9 hg19 CCDS31070.1 0.02 8.900334 CAAxTAG COVERED NOVEL GREM2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000096286.1 1 9.932489 KEEP 0 0 0 33 1201 CC 0.999998 0.999998 0 - 11 60 403 0 0 26.794672 200 60 7596 305 ENST00000318160.4 0.052133 1 GREM2 64388 __UNKNOWN__ __UNKNOWN__ 1 240656797 240656797 __UNKNOWN__ Intron SNP G G A rs11806449 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:240656797G>A ENST00000318160.4 - 2 266 NM_022469.3 NP_071914.3 Q9H772 GREM2_HUMAN gremlin 2, DAN family BMP antagonist NA NA BMP signaling pathway (GO:0030509)|cytokine-mediated signaling pathway (GO:0019221)|determination of dorsal identity (GO:0048263)|embryonic body morphogenesis (GO:0010172)|regulation of cytokine activity (GO:0060300)|sequestering of BMP from receptor via BMP binding (GO:0038098) extracellular region (GO:0005576)|extracellular space (GO:0005615) heparin binding (GO:0008201) endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 10 all_cancers(173;0.0196) OV - Ovarian serous cystadenocarcinoma(106;0.0123) GAAAAGAGAGGGGCTGGCTGT 0.537 NA G||| 1017 0.203075 0.053 0.1599 5008 , , NA 18221 0.3214 NA 0.1819 False NA ,,, NA NA NA 2504 0.3364 NA NA NA NA 0 G 245,4015 5,235,1890 8 9 8 0 0 1 dbSNP_120 8 1608,6806 173,1262,2772 no intron GREM2 NM_022469.3 178,1497,4662 AA,AG,GG 19.111,5.7512,14.6205 240656797 1853,10821 2130 4207 6337 SO:0001627 intron_variant AK024848 CCDS31070.1 1q43 2013-02-26 2013-02-26 ENSG00000180875 ENSG00000180875 64388 17655 protein-coding gene gene with protein product protein related to DAN and cerberus 608832 gremlin 2, cysteine knot superfamily, homolog (Xenopus laevis), gremlin 2 NA 15039429 Standard NM_022469 XM_005273226 NA Approved Prdc, FLJ21195, CKTSF1B2, DAND3 uc001hys.3 Q9H772 OTTHUMG00000039909 ENST00000318160.4:c.1-21C>T chr1.hg19:g.240656797G>A NA Q86UD9 hg19 CCDS31070.1 0.02 17.446539 GAGxGGC COVERED NOVEL GREM2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000096286.1 8 13.179524 KEEP 0 4 120 86 3031 GG 1 1 0 - 23 60 794 0 0 51.808502 394 60 14509 645 ENST00000318160.4 0.055156 1 GREM2 64388 __UNKNOWN__ __UNKNOWN__ 1 240656841 240656841 __UNKNOWN__ Intron SNP A A T rs202232959|rs45519645 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:240656841A>T ENST00000318160.4 - 2 266 NM_022469.3 NP_071914.3 Q9H772 GREM2_HUMAN gremlin 2, DAN family BMP antagonist NA NA BMP signaling pathway (GO:0030509)|cytokine-mediated signaling pathway (GO:0019221)|determination of dorsal identity (GO:0048263)|embryonic body morphogenesis (GO:0010172)|regulation of cytokine activity (GO:0060300)|sequestering of BMP from receptor via BMP binding (GO:0038098) extracellular region (GO:0005576)|extracellular space (GO:0005615) heparin binding (GO:0008201) endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 10 all_cancers(173;0.0196) OV - Ovarian serous cystadenocarcinoma(106;0.0123) AATCTTACTTAtttttttttt 0.507 NA A||| 1279 0.255391 0.112 0.2176 5008 , , NA 17358 0.3462 NA 0.2525 False NA ,,, NA NA NA 2504 0.3855 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK024848 CCDS31070.1 1q43 2013-02-26 2013-02-26 ENSG00000180875 ENSG00000180875 64388 17655 protein-coding gene gene with protein product protein related to DAN and cerberus 608832 gremlin 2, cysteine knot superfamily, homolog (Xenopus laevis), gremlin 2 NA 15039429 Standard NM_022469 XM_005273226 NA Approved Prdc, FLJ21195, CKTSF1B2, DAND3 uc001hys.3 Q9H772 OTTHUMG00000039909 ENST00000318160.4:c.1-65T>A chr1.hg19:g.240656841A>T NA Q86UD9 hg19 CCDS31070.1 0.02 8.528081 CTTxTTT COVERED NOVEL GREM2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000096286.1 4 7.983628 KEEP 0 2 64 49 1389 AA 1 1 0 - 16 60 551 0 1 37.814388 215 60 7251 332 ENST00000318160.4 0.069264 1 FH 2271 __UNKNOWN__ __UNKNOWN__ 1 241667233 241667233 __UNKNOWN__ Intron SNP C C T rs4660099 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:241667233C>T ENST00000366560.3 - 7 1147 NM_000143.3 NP_000134.2 P07954 FUMH_HUMAN fumarate hydratase NA NA cellular metabolic process (GO:0044237)|fumarate metabolic process (GO:0006106)|homeostasis of number of cells within a tissue (GO:0048873)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|tricarboxylic acid cycle enzyme complex (GO:0045239) fumarate hydratase activity (GO:0004333) biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2) 26 Ovarian(103;0.103) all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118) OV - Ovarian serous cystadenocarcinoma(106;0.0214) Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109) GTGCGCCTTGCGCATCCAGCT 0.473 NA Mis, N, F lieomyomatosis, renal Hereditary Leiomyomatosis and Renal Cell Cancer C||| 1073 0.214257 0.059 0.2435 5008 , , NA 21216 0.1974 NA 0.3926 False NA ,,, NA NA NA 2504 0.2372 NA NA NA Melanoma(148;1573 2486 7381 46575) yes Rec hereditary leiomyomatosis and renal cell cancer 1 1q42.1 2271 fumarate hydratase E, M 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database HLRCC, Reed syndrome, Hereditary Multiple Leiomyomata of Skin and Uterus BC003108 CCDS1617.1 1q42.1 2014-09-17 ENSG00000091483 ENSG00000091483 2271 4.2.1.2 3700 protein-coding gene gene with protein product 136850 NA Standard NM_000143 NM_000143 NA Approved fumarase uc001hyx.3 P07954 OTTHUMG00000039597 ENST00000366560.3:c.1108+108G>A chr1.hg19:g.241667233C>T NA B1ANK7 hg19 CCDS1617.1 0.02 3.631162 TTGxGCA COVERED NOVEL FH-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000095490.1 0 2.708812 KEEP 0 0 0 9 316 CC 0.99254 0.99254 0 - 5 60 175 0 0 10.508223 136 60 5014 157 ENST00000366560.3 0.035461 1 KMO 8564 __UNKNOWN__ __UNKNOWN__ 1 241758302 241758302 __UNKNOWN__ 3'UTR SNP T T C rs588246 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:241758302T>C ENST00000366559.4 + 0 4619 OPN3_ENST00000331838.5_Intron|OPN3_ENST00000366554.2_Intron|KMO_ENST00000366557.4_3'UTR|OPN3_ENST00000469376.1_Intron NM_003679.4 NP_003670.2 kynurenine 3-monooxygenase (kynurenine 3-hydroxylase) NA NA NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2) 33 Ovarian(103;0.103)|all_lung(81;0.23) OV - Ovarian serous cystadenocarcinoma(106;0.0176) AACattaagttagtccacaaa 0.378 NA C||| 916 0.182907 0.3048 0.2565 5008 , , NA 17384 0.1935 NA 0.0517 False NA ,,, NA NA NA 2504 0.09 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF056032 CCDS1618.1 1q42-q44 2010-11-23 ENSG00000117009 ENSG00000117009 8564 1.14.13.9 6381 protein-coding gene gene with protein product 603538 NA 9237672 Standard NM_003679 NM_003679 NA Approved uc009xgp.3 O15229 OTTHUMG00000039635 ENST00000366559.4:c.*2847T>C chr1.hg19:g.241758302T>C NA hg19 CCDS1618.1 0.02 4.285547 AGTxAGT COVERED NOVEL KMO-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000095612.1 2 3.911918 KEEP 0 0 0 13 411 TT 0.994391 0.994391 0 + 5 60 187 0 0 11.616264 142 60 5105 180 ENST00000366559.4 0.034014 1 EXO1 9156 __UNKNOWN__ __UNKNOWN__ 1 242045283 242045283 __UNKNOWN__ Silent SNP T T A rs4149984 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:242045283T>A ENST00000366548.3 + 14 2768 c.2175T>A c.(2173-2175)tcT>tcA p.S725S EXO1_ENST00000518483.1_Silent_p.S725S|EXO1_ENST00000348581.5_Silent_p.S725S NM_130398.3 NP_569082.2 Q9UQ84 EXO1_HUMAN exonuclease 1 725 Interaction with MSH2. NA DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|somatic hypermutation of immunoglobulin genes (GO:0016446) nucleus (GO:0005634) 5'-3' exodeoxyribonuclease activity (GO:0035312)|5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|double-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0051908)|exonuclease activity (GO:0004527)|flap endonuclease activity (GO:0048256)|metal ion binding (GO:0046872)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)|structure-specific DNA binding (GO:0043566) NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2) 45 Ovarian(103;0.103) all_cancers(173;0.0555) OV - Ovarian serous cystadenocarcinoma(106;0.0107) TACGTTTATCTCATTTCTCAA 0.308 NA Editing and processing nucleases T||| 250 0.0499201 0.003 0.0159 5008 , , NA 13527 0.131 NA 0.0288 False NA ,,, NA NA NA 2504 0.0757 NA NA NA NA 0 T ,, 43,4363 46.7+/-81.2 0,43,2160 59 58 58 2175,2175,2175 4.8 1 1 dbSNP_110 58 203,8385 87.9+/-150.2 1,201,4092 no coding-synonymous,coding-synonymous,coding-synonymous EXO1 NM_003686.4,NM_006027.4,NM_130398.3 ,, 1,244,6252 AA,AT,TT 2.3638,0.9759,1.8932 ,, 725/804,725/847,725/847 242045283 246,12748 2203 4294 6497 SO:0001819 synonymous_variant AF042282 CCDS1620.1, CCDS44336.1 1q42-q43 2008-07-18 ENSG00000174371 ENSG00000174371 9156 3511 protein-coding gene gene with protein product rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1 606063 NA 9685493, 9788596 Standard NM_006027 NM_003686 NA Approved HEX1, hExoI uc001hzh.3 Q9UQ84 OTTHUMG00000039965 ENST00000366548.3:c.2175T>A chr1.hg19:g.242045283T>A NA O60545|O75214|O75466|Q5T396|Q96IJ1|Q9UG38|Q9UNW0 hg19 CCDS1620.1 0.02 3.98466 ATCxCAT COVERED NOVEL EXO1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000096405.1 1 9.629502 KEEP 0 0 0 32 1022 TT 0.999997 0.999997 0 + 6 60 211 0 0 13.311677 129 60 4755 221 ENST00000366548.3 0.044444 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 242083806 242083806 __UNKNOWN__ IGR SNP G G C rs10754739 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:242083806G>C NA NA EXO1 (30565 upstream) : MAP1LC3C (74985 downstream) NA NA NA ttctgacctcgtgatccaccc 0.488 NA C||| 3543 0.707468 0.5613 0.7305 5008 , , NA 15642 0.8859 NA 0.7555 False NA ,,, NA NA NA 2504 0.6554 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.242083806G>C NA hg19 0.02 -0.078959 CTCxTGA UNCOVERED NOVEL 0 1 2.407677 KEEP 0 0 0 8 268 GG 0.99257 0.076761 0 4 60 148 0 0 14.023242 5 60 188 18 0.444444 0.077336 PLD5 200150 __UNKNOWN__ __UNKNOWN__ 1 242612661 242612661 __UNKNOWN__ Intron SNP C C T rs75401237 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:242612661C>T ENST00000536534.2 - 1 431 PLD5_ENST00000442594.2_Intron|PLD5_ENST00000427495.1_5'UTR Q8N7P1 PLD5_HUMAN phospholipase D family, member 5 NA NA integral component of membrane (GO:0016021) catalytic activity (GO:0003824) breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1) 55 Melanoma(84;0.242) OV - Ovarian serous cystadenocarcinoma(106;0.0329) CTTACCATTGCGACCAATCTT 0.517 NA C||| 254 0.0507188 0.0015 0.098 5008 , , NA 18730 0.1369 NA 0.0099 False NA ,,, NA NA NA 2504 0.0368 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK098092 CCDS1621.1, CCDS1621.2, CCDS55692.1 1q43 2008-02-05 ENSG00000180287 ENSG00000180287 200150 26879 protein-coding gene gene with protein product NA Standard NM_152666 NM_001195811 NA Approved FLJ40773 uc001hzn.2 Q8N7P1 OTTHUMG00000039867 ENST00000536534.2:c.189+74728G>A chr1.hg19:g.242612661C>T NA A1KXV0|B7Z324|Q494U9|Q8NB22 hg19 CCDS1621.2 0.02 23.425964 TTGxGAC COVERED NOVEL PLD5-006 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000397213.2 1 10.769459 KEEP 0 1 32 47 1628 CC 1 1 0 - 18 60 668 0 0 40.327678 580 60 20087 781 ENST00000536534.2 0.0301 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 242690691 242690691 __UNKNOWN__ IGR SNP G G C rs7529303 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:242690691G>C NA NA PLD5 (2693 upstream) : AL445675.1 (370480 downstream) NA NA NA gcccgcctcggcctcccaaag 0.488 NA G||| 904 0.180511 0.2837 0.1556 5008 , , NA 14113 0.1776 NA 0.1421 False NA ,,, NA NA NA 2504 0.1012 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.242690691G>C NA hg19 0.02 -0.043868 TCGxCCT UNCOVERED NOVEL 0 5 3.310996 KEEP 1 0 0 11 407 GG 0.992708 0.023898 0 2 60 76 0 0 7.092779 3 60 121 22 0.4 0.024074 CEP170 9859 __UNKNOWN__ __UNKNOWN__ 1 243327939 243327939 __UNKNOWN__ Missense_Mutation SNP A A C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:243327939A>C ENST00000366542.1 - 13 3374 c.3323T>G c.(3322-3324)cTt>cGt p.L1108R CEP170_ENST00000366544.1_Missense_Mutation_p.L1010R|RP11-261C10.4_ENST00000437499.1_RNA|CEP170_ENST00000366543.1_Missense_Mutation_p.L1010R NM_014812.2 NP_055627.2 Q5SW79 CE170_HUMAN centrosomal protein 170kDa 1108 Targeting to microtubules. NA centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965) NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 62 all_neural(11;0.101) all_cancers(173;0.003) all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101) AGCTTCACCAAGTCGTGCTCT 0.478 NA NA NA NA NA NA NA NA NA NA NA 0 66 61 63 NA NA 1 NA 243327939 1951 4144 6095 SO:0001583 missense AB022657 CCDS44337.1, CCDS44338.1, CCDS44339.1 1q44 2014-02-20 2006-01-12 2006-01-12 ENSG00000143702 ENSG00000143702 9859 28920 protein-coding gene gene with protein product KARP 1 binding protein, XRCC5 binding protein 613023 KIAA0470 KIAA0470 NA 15616186 Standard NM_014812 NM_014812 NA Approved KAB, FAM68A uc021plo.1 Q5SW79 OTTHUMG00000039862 ENST00000366542.1:c.3323T>G chr1.hg19:g.243327939A>C ENSP00000355500:p.Leu1108Arg NA O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09 hg19 CCDS44339.1 0.02 10.184313 CCAxGTC COVERED .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. A|A 13.95|13.95 2.389291|2.389291 0.42410|0.42410 .|. .|. ENSG00000143702|ENSG00000143702 ENST00000366542;ENST00000366544;ENST00000366543;ENST00000532008|ENST00000336415 T;T;T|T 0.75938|0.69806 -0.48;-0.51;-0.98|-0.43 5.04|5.04 5.04|5.04 0.67666|0.67666 .|. 0.000000|0.000000 0.85682|0.85682 D|D 0.000000|0.000000 T|T 0.77032|0.77032 0.4071|0.4071 M|M 0.75777|0.75777 2.31|2.31 0.80722|0.80722 D|D 1|1 B;D;D;D|. 0.76494|. 0.005;0.999;0.999;0.999|. B;D;D;D|. 0.85130|. 0.021;0.996;0.996;0.997|. T|T 0.78272|0.78272 -0.2268|-0.2268 10|8 0.37606|0.46703 T|T 0.19|0.11 -10.3616|-10.3616 13.9643|13.9643 0.64199|0.64199 1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0 .|. 1071;1010;1010;1108|. B1ARM6;Q5SW79-3;Q5SW79-2;Q5SW79|. .;.;.;CE170_HUMAN|. R|V 1108;1010;1010;69|1072 ENSP00000355500:L1108R;ENSP00000355502:L1010R;ENSP00000355501:L1010R|ENSP00000338161:L1072V ENSP00000355500:L1108R|ENSP00000338161:L1072V L|L -|- 2|1 0|2 CEP170|CEP170 241394562|241394562 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.996000|0.996000 0.88848|0.88848 8.663000|8.663000 0.91134|0.91134 1.879000|1.879000 0.54435|0.54435 0.454000|0.454000 0.30748|0.30748 CTT|TTG NOVEL CEP170-003 KNOWN non_canonical_U12|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000096178.2 1 2.391234 KEEP 28 5 133 55 1798 AA 1 1 0 - 19 39 644 0 0 43.318149 261 60 9655 439 ENST00000366542.1 0.067857 1 CEP170 9859 __UNKNOWN__ __UNKNOWN__ 1 243335974 243335974 __UNKNOWN__ Intron SNP A A G rs546380703 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:243335974A>G ENST00000366542.1 - 11 1768 CEP170_ENST00000366544.1_Intron|CEP170_ENST00000366543.1_Intron NM_014812.2 NP_055627.2 Q5SW79 CE170_HUMAN centrosomal protein 170kDa NA NA centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965) NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 62 all_neural(11;0.101) all_cancers(173;0.003) all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101) ATGCATTCAAATAGGTACACA 0.428 NA A||| 1 0.000199681 0.0 0.0 5008 , , NA 17843 0.0 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 60 49 52 NA NA 1 NA 243335974 1824 4084 5908 SO:0001627 intron_variant AB022657 CCDS44337.1, CCDS44338.1, CCDS44339.1 1q44 2014-02-20 2006-01-12 2006-01-12 ENSG00000143702 ENSG00000143702 9859 28920 protein-coding gene gene with protein product KARP 1 binding protein, XRCC5 binding protein 613023 KIAA0470 KIAA0470 NA 15616186 Standard NM_014812 NM_014812 NA Approved KAB, FAM68A uc021plo.1 Q5SW79 OTTHUMG00000039862 ENST00000366542.1:c.1716+24T>C chr1.hg19:g.243335974A>G NA O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09 hg19 CCDS44339.1 0.02 4.29648 CAAxTAG COVERED NOVEL CEP170-003 KNOWN non_canonical_U12|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000096178.2 1 5.045525 KEEP 2 1 26 26 796 AA 0.999988 0.999987 0 - 9 33 328 0 0 23.11793 114 67 4047 176 ENST00000366542.1 0.073171 0.999999 SDCCAG8 10806 __UNKNOWN__ __UNKNOWN__ 1 243471542 243471542 __UNKNOWN__ Intron SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:243471542C>T ENST00000366541.3 + 8 1047 SDCCAG8_ENST00000355875.4_Intron|SDCCAG8_ENST00000343783.6_Intron|SDCCAG8_ENST00000391846.1_Intron NM_006642.3 NP_006633.1 Q86SQ7 SDCG8_HUMAN serologically defined colon cancer antigen 8 NA NA establishment of cell polarity (GO:0030010)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|tube formation (GO:0035148) cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829) breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218) all_cancers(173;0.00395) all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392) COAD - Colon adenocarcinoma(196;0.145) TTTAAAGGGGCATTGTGTTCT 0.378 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF039690 CCDS31075.1 1q43 2011-08-02 ENSG00000054282 ENSG00000054282 10806 10671 protein-coding gene gene with protein product 613524 NA 9610721, 20835237 Standard NM_006642 NM_006642 NA Approved NY-CO-8, CCCAP, SLSN7, NPHP10, BBS16 uc001hzw.3 Q86SQ7 OTTHUMG00000039996 ENST00000366541.3:c.929+63C>T chr1.hg19:g.243471542C>T NA O60527|Q3ZCR6|Q8N5F2|Q9P0F1 hg19 CCDS31075.1 0.02 7.777562 GGGxATT COVERED NOVEL SDCCAG8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000096485.1 3 11.437541 KEEP 0 0 0 38 1365 CC 1 1 0 + 12 60 417 0 0 26.572506 236 60 8913 322 ENST00000366541.3 0.048387 1 C1orf101 257044 __UNKNOWN__ __UNKNOWN__ 1 244624635 244624635 __UNKNOWN__ Intron SNP G G C rs3006006 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:244624635G>C ENST00000473875.1 + 3 314 Q5SY80 CA101_HUMAN chromosome 1 open reading frame 101 NA NA CatSper complex (GO:0036128) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3) 36 all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121) all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154) CCGGGACCCAGGCGCCTGCAG 0.761 NA g||| 3273 0.653554 0.829 0.6167 5008 , , NA 11315 0.7282 NA 0.6143 False NA ,,, NA NA NA 2504 0.4059 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC032859 CCDS1625.1, CCDS44340.1, CCDS55693.1 1q44 2012-12-20 ENSG00000179397 ENSG00000179397 257044 28491 protein-coding gene gene with protein product NA 12477932 Standard NM_173807 NM_173807 NA Approved MGC33370 uc001iam.3 Q5SY80 OTTHUMG00000040103 ENST00000473875.1:c.315-2575G>C chr1.hg19:g.244624635G>C NA B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6 hg19 0.02 -0.403234 CCAxGCG COVERED NOVEL C1orf101-004 KNOWN basic processed_transcript NA protein_coding OTTHUMT00000096704.1 0 4.514578 KEEP 0 0 0 15 526 GG 0.99649 0.931212 0 + 5 60 174 0 0 12.922379 41 60 1437 68 ENST00000473875.1 0.108696 0.934492 C1orf101 257044 __UNKNOWN__ __UNKNOWN__ 1 244624887 244624887 __UNKNOWN__ Intron SNP T T C rs3124058 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:244624887T>C ENST00000366534.4 + 1 119 C1orf101_ENST00000366533.4_Intron|C1orf101_ENST00000366531.3_Intron|C1orf101_ENST00000473875.1_Intron NM_001130957.1 NP_001124429.1 Q5SY80 CA101_HUMAN chromosome 1 open reading frame 101 NA NA CatSper complex (GO:0036128) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3) 36 all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121) all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154) CCCATGCGCCTCGGGACCGCT 0.697 NA C||| 3172 0.633387 0.6914 0.6153 5008 , , NA 11633 0.7361 NA 0.6352 False NA ,,, NA NA NA 2504 0.4601 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC032859 CCDS1625.1, CCDS44340.1, CCDS55693.1 1q44 2012-12-20 ENSG00000179397 ENSG00000179397 257044 28491 protein-coding gene gene with protein product NA 12477932 Standard NM_173807 NM_173807 NA Approved MGC33370 uc001iam.3 Q5SY80 OTTHUMG00000040103 ENST00000366534.4:c.65+91T>C chr1.hg19:g.244624887T>C NA B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6 hg19 CCDS44340.1 0.02 2.065965 GCCxCGG COVERED NOVEL C1orf101-001 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000096701.1 1 18.830308 KEEP 0 0 0 63 1883 TT 1 0.999907 0 + 6 60 181 0 0 11.65983 87 60 2899 202 ENST00000366534.4 0.064516 0.999907 EFCAB2 84288 __UNKNOWN__ __UNKNOWN__ 1 245179003 245179003 __UNKNOWN__ Intron SNP C C T rs143716759 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:245179003C>T ENST00000366523.1 + 3 290 EFCAB2_ENST00000366522.2_Intron|EFCAB2_ENST00000447569.2_Intron|EFCAB2_ENST00000487845.1_Intron NM_032328.3 NP_115704.1 Q5VUJ9 EFCB2_HUMAN EF-hand calcium binding domain 2 NA NA calcium ion binding (GO:0005509) breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|stomach(2) 13 all_cancers(71;2.93e-06)|all_epithelial(71;2.13e-05)|all_lung(81;0.0337)|Lung NSC(105;0.0472)|Ovarian(71;0.0584)|Breast(184;0.0716)|all_neural(11;0.0982) OV - Ovarian serous cystadenocarcinoma(106;0.015) cagagagagactctgtctcaa 0.483 NA c||| 4 0.000798722 0.0 0.0 5008 , , NA 10807 0.004 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB209286 CCDS31082.1, CCDS44341.1 1q44 2014-07-18 ENSG00000203666 ENSG00000203666 84288 EF-hand domain containing 28166 protein-coding gene gene with protein product dynein regulatory complex subunit 8 NA 23427265 Standard NM_032328 NA Approved MGC12458, DRC8, CFAP200 uc001ibc.2 Q5VUJ9 OTTHUMG00000040474 ENST00000366523.1:c.26-1541C>T chr1.hg19:g.245179003C>T NA B4DZE9|Q59G23|Q9BS36 hg19 CCDS31082.1 0.02 1.755082 AGAxTCT COVERED NOVEL EFCAB2-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000097409.1 6 13.539091 KEEP 0 0 0 45 1529 CC 1 0.999919 0 + 5 60 186 0 0 12.553888 87 60 3088 181 ENST00000366523.1 0.054348 0.999919 KIF26B 55083 __UNKNOWN__ __UNKNOWN__ 1 245851289 245851289 __UNKNOWN__ Silent SNP G G T rs58427858 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:245851289G>T ENST00000407071.2 + 12 5444 c.5004G>T c.(5002-5004)tcG>tcT p.S1668S KIF26B_ENST00000366518.4_Silent_p.S1287S NM_018012.3 NP_060482.2 Q2KJY2 KI26B_HUMAN kinesin family member 26B 1668 Ser-rich. NA establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092) cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874) ATP binding (GO:0005524)|microtubule motor activity (GO:0003777) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) GAAGCAACTCGCTGGGCAGGG 0.672 NA C||| 282 0.0563099 0.0015 0.1412 5008 , , NA 14006 0.1111 NA 0.0119 False NA ,,, NA NA NA 2504 0.0593 NA NA NA NA 0 C 12,3974 0,12,1981 6 9 8 5004 -10.6 0 1 dbSNP_129 8 82,8102 1,80,4011 no coding-synonymous KIF26B NM_018012.3 1,92,5992 TT,TG,GG 1.002,0.3011,0.7724 1668/2109 245851289 94,12076 1993 4092 6085 SO:0001819 synonymous_variant AK001019 CCDS44342.1 1q44 2008-02-05 ENSG00000162849 ENSG00000162849 55083 Kinesins 25484 protein-coding gene gene with protein product 614026 NA Standard XM_371354 NM_018012 NA Approved FLJ10157 uc001ibf.1 Q2KJY2 OTTHUMG00000040079 ENST00000407071.2:c.5004G>T chr1.hg19:g.245851289G>T NA Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4 hg19 CCDS44342.1 0.02 9.237499 CTCxCTG COVERED NOVEL KIF26B-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000381037.1 2 13.242014 KEEP 0 0 0 44 1514 GG 1 1 0 + 10 60 373 0 0 24.010324 231 60 8123 348 ENST00000407071.2 0.041494 1 SMYD3 64754 __UNKNOWN__ __UNKNOWN__ 1 246670481 246670481 __UNKNOWN__ Missense_Mutation SNP C C G rs7520453 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:246670481C>G ENST00000403792.3 - 1 133 c.39G>C c.(37-39)aaG>aaC p.K13N SMYD3_ENST00000490107.1_5'UTR|SMYD3_ENST00000388985.4_Missense_Mutation_p.K13N Q9H7B4 SMYD3_HUMAN SET and MYND domain containing 3 13 SET. {ECO:0000255|PROSITE- ProRule:PRU00190}. NA K -> N (in Ref. 1; BAB86333 and 6; AAH31010). {ECO:0000305}. cellular response to dexamethasone stimulus (GO:0071549)|establishment of protein localization (GO:0045184)|myotube cell development (GO:0014904)|negative regulation of protein kinase activity (GO:0006469)|nucleosome assembly (GO:0006334)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944) cytoplasm (GO:0005737)|nucleus (GO:0005634) histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162) breast(3)|large_intestine(5)|lung(8)|skin(1) 17 all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242) all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164) OV - Ovarian serous cystadenocarcinoma(106;0.0129) all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537) CGTTTCCCCTCTTGGCGGTTG 0.687 NA G||| 3749 0.748602 0.472 0.8329 5008 , , NA 11891 0.9028 NA 0.8618 False NA ,,, NA NA NA 2504 0.7873 NA NA NA NA 0 G ASN/LYS 757,627 204,349,139 31 42 38 39 2.1 0 1 dbSNP_116 38 2789,393 1216,357,18 yes missense SMYD3 NM_001167740.1 94 1420,706,157 GG,GC,CC 12.3507,45.3035,22.339 13/429 246670481 3546,1020 692 1591 2283 SO:0001583 missense AK023594 CCDS31083.1 1q44 2011-07-01 2003-05-14 2003-05-16 ENSG00000185420 ENSG00000185420 64754 Zinc fingers, MYND-type, Chromatin-modifying enzymes / K-methyltransferases 15513 protein-coding gene gene with protein product 608783 zinc finger, MYND domain containing 1 ZNFN3A1, ZMYND1 NA Standard NM_022743 NM_022743 NA Approved KMT3E uc001ibl.3 Q9H7B4 OTTHUMG00000040508 ENST00000403792.3:c.39G>C chr1.hg19:g.246670481C>G ENSP00000385380:p.Lys13Asn NA A8K0P0|B1AN38|Q86TL8|Q8N5Z6|Q96AI5 hg19 0.02 22.442463 CCTxTTG COVERED 1709 0.7825091575091575 239 0.48577235772357724 303 0.8370165745856354 514 0.8986013986013986 653 0.8614775725593667 G 9.680 1.149145 0.21288 0.546965 0.876493 ENSG00000185420 ENST00000388985;ENST00000403792 T;T 0.13196 2.61;2.61 5.31 2.13 0.27403 SET domain (1); 0.788812 0.11174 N 0.591676 T 0.00012 0.0000 N 0.14661 0.345 0.58432 P 4.000000000004E-6 B 0.02656 0.0 B 0.01281 0.0 T 0.14448 -1.0472 9 0.17369 T 0.5 -0.0363 8.0023 0.30304 0.09:0.4822:0.4278:0.0 rs7520453;rs59425251;rs7520453 13 Q9H7B4 SMYD3_HUMAN N 13 ENSP00000373637:K13N;ENSP00000385380:K13N ENSP00000373637:K13N K - 3 2 SMYD3 244737104 0.004000 0.15560 0.006000 0.13384 0.609000 0.37215 0.597000 0.24059 0.222000 0.20900 -0.322000 0.08575 AAG NOVEL SMYD3-012 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000318376.1 4 39.073025 KEEP 0 4 147 181 6506 CC 1 1 0 - 29 60 1045 0 0 71.464086 432 60 16322 843 ENST00000403792.3 0.062907 1 SCCPDH 51097 __UNKNOWN__ __UNKNOWN__ 1 246890158 246890158 __UNKNOWN__ Intron SNP T T C rs34677128 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:246890158T>C ENST00000366510.3 + 2 566 NM_016002.2 NP_057086.2 Q8NBX0 SCPDL_HUMAN saccharopine dehydrogenase (putative) NA NA lipid particle (GO:0005811)|membrane (GO:0016020)|midbody (GO:0030496)|mitochondrion (GO:0005739)|nucleus (GO:0005634) oxidoreductase activity (GO:0016491) cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|ovary(1) 17 all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618) all_cancers(173;0.0343) OV - Ovarian serous cystadenocarcinoma(106;0.00323) GBM - Glioblastoma multiforme(49;0.0896) AATCCTCTACTGGGATTTACT 0.363 NA C||| 1027 0.205072 0.41 0.1902 5008 , , NA 19107 0.1786 NA 0.0845 False NA ,,, NA NA NA 2504 0.09 NA NA NA NA 0 C 1430,2976 678.3+/-403.5 225,980,998 77 77 77 -1.9 0 1 dbSNP_126 77 782,7818 776.4+/-407.7 32,718,3550 no intron SCCPDH NM_016002.2 257,1698,4548 CC,CT,TT 9.093,32.4557,17.0075 246890158 2212,10794 2203 4300 6503 SO:0001627 intron_variant CCDS31084.1 1q44 2009-11-06 ENSG00000143653 ENSG00000143653 51097 24275 protein-coding gene gene with protein product NA 10810093 Standard NM_016002 NM_016002 NA Approved CGI-49, NET11 uc001ibr.3 Q8NBX0 OTTHUMG00000040221 ENST00000366510.3:c.191-36T>C chr1.hg19:g.246890158T>C NA Q8TAR0|Q9Y363 hg19 CCDS31084.1 0.02 5.823469 TACxGGG COVERED NOVEL SCCPDH-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000096902.2 2 5.71647 KEEP 0 0 0 19 585 TT 0.99986 0.99986 0 + 7 60 249 0 0 15.898525 146 60 5467 191 ENST00000366510.3 0.045752 1 SCCPDH 51097 __UNKNOWN__ __UNKNOWN__ 1 246899123 246899123 __UNKNOWN__ Intron SNP T T C rs61852479 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:246899123T>C ENST00000366510.3 + 3 679 NM_016002.2 NP_057086.2 Q8NBX0 SCPDL_HUMAN saccharopine dehydrogenase (putative) NA NA lipid particle (GO:0005811)|membrane (GO:0016020)|midbody (GO:0030496)|mitochondrion (GO:0005739)|nucleus (GO:0005634) oxidoreductase activity (GO:0016491) cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|ovary(1) 17 all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618) all_cancers(173;0.0343) OV - Ovarian serous cystadenocarcinoma(106;0.00323) GBM - Glioblastoma multiforme(49;0.0896) tgtgagccactgtgcctggcc 0.448 NA C||| 1020 0.203674 0.4221 0.183 5008 , , NA 18257 0.1766 NA 0.0706 False NA ,,, NA NA NA 2504 0.0879 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS31084.1 1q44 2009-11-06 ENSG00000143653 ENSG00000143653 51097 24275 protein-coding gene gene with protein product NA 10810093 Standard NM_016002 NM_016002 NA Approved CGI-49, NET11 uc001ibr.3 Q8NBX0 OTTHUMG00000040221 ENST00000366510.3:c.304-154T>C chr1.hg19:g.246899123T>C NA Q8TAR0|Q9Y363 hg19 CCDS31084.1 0.02 -0.350775 CACxGTG COVERED NOVEL SCCPDH-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000096902.2 2 3.008988 KEEP 0 0 0 10 313 TT 0.992708 0.871307 0 + 3 60 108 0 0 7.605574 37 60 1348 54 ENST00000366510.3 0.075 0.877708 SCCPDH 51097 __UNKNOWN__ __UNKNOWN__ 1 246922390 246922390 __UNKNOWN__ Silent SNP A A G rs1127098 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:246922390A>G ENST00000366510.3 + 7 1126 c.750A>G c.(748-750)ggA>ggG p.G250G NM_016002.2 NP_057086.2 Q8NBX0 SCPDL_HUMAN saccharopine dehydrogenase (putative) 250 NA lipid particle (GO:0005811)|membrane (GO:0016020)|midbody (GO:0030496)|mitochondrion (GO:0005739)|nucleus (GO:0005634) oxidoreductase activity (GO:0016491) cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|ovary(1) 17 all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618) all_cancers(173;0.0343) OV - Ovarian serous cystadenocarcinoma(106;0.00323) GBM - Glioblastoma multiforme(49;0.0896) CTTTTATGGGATCTGATGTGT 0.358 NA A||| 481 0.0960463 0.093 0.1585 5008 , , NA 18402 0.1736 NA 0.0268 False NA ,,, NA NA NA 2504 0.047 NA NA NA NA 0 A 371,4035 189.2+/-215.4 15,341,1847 211 208 209 750 4.9 1 1 dbSNP_86 209 275,8325 104.0+/-165.0 2,271,4027 no coding-synonymous SCCPDH NM_016002.2 17,612,5874 GG,GA,AA 3.1977,8.4203,4.9669 250/430 246922390 646,12360 2203 4300 6503 SO:0001819 synonymous_variant CCDS31084.1 1q44 2009-11-06 ENSG00000143653 ENSG00000143653 51097 24275 protein-coding gene gene with protein product NA 10810093 Standard NM_016002 NM_016002 NA Approved CGI-49, NET11 uc001ibr.3 Q8NBX0 OTTHUMG00000040221 ENST00000366510.3:c.750A>G chr1.hg19:g.246922390A>G NA Q8TAR0|Q9Y363 hg19 CCDS31084.1 0.02 15.637038 GGGxTCT COVERED NOVEL SCCPDH-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000096902.2 5 18.654152 KEEP 0 0 0 62 1953 AA 1 1 0 + 16 60 573 0 0 36.262737 369 60 13658 547 ENST00000366510.3 0.041558 1 SCCPDH 51097 __UNKNOWN__ __UNKNOWN__ 1 246931119 246931119 __UNKNOWN__ 3'UTR SNP A A G rs41310575 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:246931119A>G ENST00000366510.3 + 0 2183 NM_016002.2 NP_057086.2 Q8NBX0 SCPDL_HUMAN saccharopine dehydrogenase (putative) NA NA lipid particle (GO:0005811)|membrane (GO:0016020)|midbody (GO:0030496)|mitochondrion (GO:0005739)|nucleus (GO:0005634) oxidoreductase activity (GO:0016491) cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|ovary(1) 17 all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618) all_cancers(173;0.0343) OV - Ovarian serous cystadenocarcinoma(106;0.00323) GBM - Glioblastoma multiforme(49;0.0896) TTGAAAAATAAAAGGTTGTCA 0.378 NA A||| 484 0.0966454 0.093 0.1585 5008 , , NA 19061 0.1756 NA 0.0268 False NA ,,, NA NA NA 2504 0.0481 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS31084.1 1q44 2009-11-06 ENSG00000143653 ENSG00000143653 51097 24275 protein-coding gene gene with protein product NA 10810093 Standard NM_016002 NM_016002 NA Approved CGI-49, NET11 uc001ibr.3 Q8NBX0 OTTHUMG00000040221 ENST00000366510.3:c.*517A>G chr1.hg19:g.246931119A>G NA Q8TAR0|Q9Y363 hg19 CCDS31084.1 0.02 6.53941 ATAxAAG COVERED NOVEL SCCPDH-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000096902.2 1 9.928052 KEEP 0 0 0 33 1030 AA 0.999998 0.999998 0 + 6 60 228 0 0 14.708529 145 60 5193 227 ENST00000366510.3 0.039735 1 RP11-439E19.8 0 __UNKNOWN__ __UNKNOWN__ 1 246939856 246939856 __UNKNOWN__ RNA SNP G G A rs3795465 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:246939856G>A ENST00000451123.1 - 0 1224 RP11-439E19.3_ENST00000505748.1_RNA|RP11-439E19.3_ENST00000509202.1_RNA|RP11-439E19.3_ENST00000421003.1_RNA NA NA NA ACCAGAAGCAGTTTTCGCAAG 0.468 NA A||| 2375 0.474241 0.562 0.5173 5008 , , NA 19924 0.3958 NA 0.4085 False NA ,,, NA NA NA 2504 0.4734 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000451123.1: chr1.hg19:g.246939856G>A NA hg19 0.02 8.646154 GCAxTTT COVERED 1021 0.4674908424908425 291 0.5914634146341463 194 0.5359116022099447 227 0.3968531468531469 309 0.4076517150395778 A 9.816 1.184576 0.21870 . . ENSG00000223519 ENST00000451123 . . . 5.44 -10.9 0.00192 . . . . . T 0.00012 0.0000 . . . . . . . . . . . . T 0.06643 -1.0815 4 0.42905 T 0.14 . 14.2148 0.65786 0.2396:0.1024:0.658:0.0 rs3795465;rs17233496;rs56548232;rs58829055;rs3795465 . . . I 257 . ENSP00000412987:T257I T - 2 0 RP11-439E19.8 245006479 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -2.190000 0.01247 -2.044000 0.00911 -2.661000 0.00147 ACT NOVEL RP11-439E19.8-002 KNOWN basic|exp_conf processed_transcript NA pseudogene OTTHUMT00000331247.2 1 9.631615 KEEP 0 0 0 32 1153 GG 0.999997 0.999997 0 - 12 60 441 0 0 29.142529 228 60 8637 328 ENST00000451123.1 0.05 1 RP11-439E19.8 0 __UNKNOWN__ __UNKNOWN__ 1 246939943 246939943 __UNKNOWN__ RNA SNP T T C rs6685364 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:246939943T>C ENST00000451123.1 - 0 1137 RP11-439E19.3_ENST00000505748.1_RNA|RP11-439E19.3_ENST00000509202.1_RNA|RP11-439E19.3_ENST00000421003.1_RNA NA NA NA CTGCTCTAGCTTGAGCAGCTT 0.453 NA T||| 1372 0.273962 0.093 0.3213 5008 , , NA 21034 0.2282 NA 0.3807 False NA ,,, NA NA NA 2504 0.4223 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000451123.1: chr1.hg19:g.246939943T>C NA hg19 0.02 6.59829 AGCxTGA COVERED 609 0.27884615384615385 58 0.11788617886178862 127 0.35082872928176795 142 0.24825174825174826 282 0.3720316622691293 T 11.40 1.628818 0.28978 . . ENSG00000223519 ENST00000451123 . . . 5.44 0.26 0.15588 . . . . . T 0.00012 0.0000 . . . . . . . . . . . . T 0.45264 -0.9273 4 0.25751 T 0.34 . 5.2294 0.15414 0.1216:0.209:0.0:0.6695 rs6685364;rs6685364 . . . R 228 . ENSP00000412987:K228R K - 2 0 RP11-439E19.8 245006566 0.806000 0.28996 0.854000 0.33618 0.274000 0.26718 0.279000 0.18771 -0.205000 0.10219 0.533000 0.62120 AAG NOVEL RP11-439E19.8-002 KNOWN basic|exp_conf processed_transcript NA pseudogene OTTHUMT00000331247.2 0 10.832115 KEEP 0 0 0 36 1134 TT 0.999999 0.999999 0 - 7 60 257 0 0 16.426402 160 60 5860 244 ENST00000451123.1 0.041916 1 RP11-439E19.8 0 __UNKNOWN__ __UNKNOWN__ 1 246940179 246940179 __UNKNOWN__ RNA SNP G G A rs3795464 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:246940179G>A ENST00000451123.1 - 0 1094 RP11-439E19.3_ENST00000505748.1_RNA|RP11-439E19.3_ENST00000509202.1_RNA|RP11-439E19.3_ENST00000421003.1_RNA NA NA NA TCAAGCAGCCGTCCTCAGAGA 0.468 NA G||| 1273 0.254193 0.0197 0.3184 5008 , , NA 21536 0.2282 NA 0.3807 False NA ,,, NA NA NA 2504 0.4223 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000451123.1: chr1.hg19:g.246940179G>A NA hg19 0.02 4.161772 GCCxTCC COVERED NOVEL RP11-439E19.8-002 KNOWN basic|exp_conf processed_transcript NA pseudogene OTTHUMT00000331247.2 1 7.823089 KEEP 0 0 0 26 838 GG 0.999957 0.999956 0 - 7 60 257 0 0 17.278353 120 60 4059 180 ENST00000451123.1 0.055118 1 RP11-439E19.8 0 __UNKNOWN__ __UNKNOWN__ 1 246940182 246940182 __UNKNOWN__ RNA SNP C C A rs3795463 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:246940182C>A ENST00000451123.1 - 0 1094 RP11-439E19.3_ENST00000505748.1_RNA|RP11-439E19.3_ENST00000509202.1_RNA|RP11-439E19.3_ENST00000421003.1_RNA NA NA NA AGCAGCCGTCCTCAGAGATTT 0.473 NA A||| 1463 0.292133 0.0946 0.33 5008 , , NA 21644 0.2292 NA 0.4225 False NA ,,, NA NA NA 2504 0.4632 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000451123.1: chr1.hg19:g.246940182C>A NA hg19 0.02 4.00091 GTCxTCA COVERED NOVEL RP11-439E19.8-002 KNOWN basic|exp_conf processed_transcript NA pseudogene OTTHUMT00000331247.2 1 4.248444 KEEP 0 1 31 25 872 CC 0.999957 0.999957 0 - 7 60 263 0 0 17.711031 127 60 4669 190 ENST00000451123.1 0.052239 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 247419534 247419534 __UNKNOWN__ IGR SNP G G C rs188292510 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:247419534G>C NA NA RP11-488L18.8 (14409 upstream) : Y_RNA (38602 downstream) NA NA NA CCACAAGCCAGCTTTGGAATT 0.358 NA G||| 13 0.00259585 0.0 0.0 5008 , , NA 18807 0.0129 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 172 170 170 NA NA 1 NA 247419534 1866 4098 5964 SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.247419534G>C NA hg19 0.02 21.55623 CCAxCTT COVERED NOVEL 0 4 16.554869 KEEP 0 0 0 55 2031 GG 1 1 0 19 60 702 0 0 43.761892 508 60 19408 694 0.036053 1 OR2C3 81472 __UNKNOWN__ __UNKNOWN__ 1 247694550 247694550 __UNKNOWN__ 3'UTR SNP C C G rs6678867 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:247694550C>G ENST00000366487.3 - 0 1625 GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000531662.1_Intron NM_198074.4 NP_932340 Q8N628 OR2C3_HUMAN olfactory receptor, family 2, subfamily C, member 3 NA NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2) 43 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0242) OV - Ovarian serous cystadenocarcinoma(106;0.0241) ctggaatccacccgcttcgga 0.537 NA C||| 3156 0.630192 0.6657 0.5807 5008 , , NA 16285 0.5417 NA 0.7087 False NA ,,, NA NA NA 2504 0.6278 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC030717 CCDS1634.2 1q44 2014-02-19 2002-02-28 ENSG00000196242 ENSG00000196242 81472 GPCR / Class A : Olfactory receptors 15005 protein-coding gene gene with protein product olfactory receptor, family 2, subfamily C, member 4 OR2C4, OR2C5P NA Standard NM_198074 NM_198074 NA Approved OST742 uc009xgy.3 Q8N628 OTTHUMG00000040579 ENST00000366487.3:c.*301G>C chr1.hg19:g.247694550C>G NA Q5JQS4|Q6IEZ1|Q8NGW7 hg19 CCDS1634.2 0.02 4.564218 CCAxCCG COVERED NOVEL OR2C3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000097626.2 3 6.055385 KEEP 0 1 34 32 1137 CC 0.999998 0.999998 0 - 6 60 235 0 0 15.646364 132 60 4950 208 ENST00000366487.3 0.043478 1 GCSAML 148823 __UNKNOWN__ __UNKNOWN__ 1 247738962 247738962 __UNKNOWN__ 3'UTR SNP A A G rs12562345 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:247738962A>G ENST00000366488.4 + 0 1790 GCSAML_ENST00000366489.1_3'UTR|RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA|GCSAML_ENST00000536561.1_3'UTR|GCSAML_ENST00000366491.2_3'UTR NM_001281836.1|NM_001281837.1|NM_001281853.1|NM_145278.3 NP_001268765.1|NP_001268766.1|NP_001268782.1|NP_660321.1 Q5JQS6 GSAML_HUMAN germinal center-associated, signaling and motility-like NA NA NA ATAATTGTCAATTTTTTCAAT 0.259 NA A||| 923 0.184305 0.0121 0.1542 5008 , , NA 16683 0.4385 NA 0.2058 False NA ,,, NA NA NA 2504 0.1544 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK126682 CCDS1635.1, CCDS60470.1, CCDS73058.1 1q44 2012-08-23 2012-08-23 2012-08-23 ENSG00000169224 ENSG00000169224 148823 29583 protein-coding gene gene with protein product chromosome 1 open reading frame 150 C1orf150 NA Standard NM_145278 NM_001281834 NA Approved FLJ44728 uc001idf.3 Q5JQS6 OTTHUMG00000040648 ENST00000366488.4:c.*1278A>G chr1.hg19:g.247738962A>G NA B2R4Y5|B3KX46|Q5JQT3 hg19 CCDS1635.1 0.02 4.282783 TCAxTTT COVERED NOVEL GCSAML-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000097745.4 1 4.501851 KEEP 0 0 0 15 466 AA 0.99649 0.99649 0 + 9 60 327 0 0 22.611576 127 60 4613 166 ENST00000366488.4 0.066176 1 OR2G2 81470 __UNKNOWN__ __UNKNOWN__ 1 247752161 247752161 __UNKNOWN__ Missense_Mutation SNP T T C rs10925085 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:247752161T>C ENST00000320065.1 + 1 500 c.500T>C c.(499-501)cTg>cCg p.L167P RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA NM_001001915.1 NP_001001915.1 Q8NGZ5 OR2G2_HUMAN olfactory receptor, family 2, subfamily G, member 2 167 NA L -> P (in dbSNP:rs10925085). integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) ACCCTCACCCTGCAGCTGCCC 0.542 NA T||| 1540 0.307508 0.0582 0.3501 5008 , , NA 21547 0.5228 NA 0.4125 False NA ,,, NA NA NA 2504 0.2843 NA NA NA NA 0 T PRO/LEU 465,3941 220.4+/-237.8 28,409,1766 187 170 176 500 4.3 1 1 dbSNP_120 176 3464,5136 508.7+/-377.1 676,2112,1512 yes missense OR2G2 NM_001001915.1 98 704,2521,3278 CC,CT,TT 40.2791,10.5538,30.2091 probably-damaging 167/318 247752161 3929,9077 2203 4300 6503 SO:0001583 missense BK004472 CCDS31092.1 1q44 2012-08-09 2008-05-23 ENSG00000177489 ENSG00000177489 81470 GPCR / Class A : Olfactory receptors 15007 protein-coding gene gene with protein product olfactory receptor, family 2, subfamily G, member 2, olfactory receptor, family 2, subfamily G, member 2 pseudogene NA Standard NM_001001915 NA Approved uc010pyy.2 Q8NGZ5 OTTHUMG00000040575 ENST00000320065.1:c.500T>C chr1.hg19:g.247752161T>C ENSP00000326349:p.Leu167Pro NA Q5JQT2|Q6IEZ0 hg19 CCDS31092.1 0.02 9.888165 CCCxGCA COVERED 772 0.3534798534798535 31 0.06300813008130081 127 0.35082872928176795 303 0.5297202797202797 311 0.4102902374670185 T 14.84 2.655025 0.47467 0.105538 0.402791 ENSG00000177489 ENST00000320065 T 0.00235 8.48 4.29 4.29 0.51040 GPCR, rhodopsin-like superfamily (1); 0.000000 0.30890 U 0.008678 T 0.00012 0.0000 M 0.87180 2.865 0.34693 P 0.274065 D 0.76494 0.999 D 0.77557 0.99 T 0.04165 -1.0972 9 0.87932 D 0 . 11.4683 0.50252 0.0:0.0:0.0:1.0 rs10925085;rs52797659;rs61693533;rs10925085 167 Q8NGZ5 OR2G2_HUMAN P 167 ENSP00000326349:L167P ENSP00000326349:L167P L + 2 0 OR2G2 245818784 0.000000 0.05858 0.995000 0.50966 0.624000 0.37722 0.342000 0.19926 1.789000 0.52484 0.481000 0.45027 CTG NOVEL OR2G2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000097623.1 1 10.231362 KEEP 0 0 0 34 1078 TT 0.999998 0.999998 0 + 11 60 410 0 0 26.966989 224 60 8238 317 ENST00000320065.1 0.046809 1 OR2G2 81470 __UNKNOWN__ __UNKNOWN__ 1 247752367 247752367 __UNKNOWN__ Missense_Mutation SNP A A G rs869111 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:247752367A>G ENST00000320065.1 + 1 706 c.706A>G c.(706-708)Agg>Ggg p.R236G RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA NM_001001915.1 NP_001001915.1 Q8NGZ5 OR2G2_HUMAN olfactory receptor, family 2, subfamily G, member 2 236 NA R -> G (in dbSNP:rs869111). integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) GTCAGCTACCAGGAGACAGAA 0.483 NA G||| 1947 0.388778 0.3116 0.3444 5008 , , NA 19344 0.4444 NA 0.5159 False NA ,,, NA NA NA 2504 0.3364 NA NA NA NA 0 G GLY/ARG 1377,3029 690.5+/-405.3 220,937,1046 146 134 138 706 4.3 0 1 dbSNP_86 138 4290,4310 577.6+/-390.6 1074,2142,1084 yes missense OR2G2 NM_001001915.1 125 1294,3079,2130 GG,GA,AA 49.8837,31.2528,43.5722 benign 236/318 247752367 5667,7339 2203 4300 6503 SO:0001583 missense BK004472 CCDS31092.1 1q44 2012-08-09 2008-05-23 ENSG00000177489 ENSG00000177489 81470 GPCR / Class A : Olfactory receptors 15007 protein-coding gene gene with protein product olfactory receptor, family 2, subfamily G, member 2, olfactory receptor, family 2, subfamily G, member 2 pseudogene NA Standard NM_001001915 NA Approved uc010pyy.2 Q8NGZ5 OTTHUMG00000040575 ENST00000320065.1:c.706A>G chr1.hg19:g.247752367A>G ENSP00000326349:p.Arg236Gly NA Q5JQT2|Q6IEZ0 hg19 CCDS31092.1 0.02 16.175025 ACCxGGA COVERED 928 0.4249084249084249 145 0.29471544715447157 143 0.39502762430939226 252 0.4405594405594406 388 0.5118733509234829 G 0.006 -2.051580 0.00394 0.312528 0.498837 ENSG00000177489 ENST00000320065 T 0.00013 9.24 4.29 4.29 0.51040 GPCR, rhodopsin-like superfamily (1); 0.000000 0.36972 N 0.002316 T 0.00012 0.0000 N 0.00012 -2.96 0.58432 P 1.0000000000287557E-6 B 0.02656 0.0 B 0.01281 0.0 T 0.22034 -1.0228 9 0.02654 T 1 . 10.1869 0.43002 0.0989:0.0:0.9011:0.0 rs869111;rs17318855;rs52811386;rs58487812;rs869111 236 Q8NGZ5 OR2G2_HUMAN G 236 ENSP00000326349:R236G ENSP00000326349:R236G R + 1 2 OR2G2 245818990 0.290000 0.24343 0.038000 0.18304 0.008000 0.06430 0.583000 0.23849 1.023000 0.39654 -0.186000 0.12905 AGG NOVEL OR2G2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000097623.1 3 6.350731 KEEP 0 1 31 32 981 AA 0.999998 0.999998 0 + 24 60 852 0 0 57.456184 368 60 13615 484 ENST00000320065.1 0.061224 1 OR2G3 81469 __UNKNOWN__ __UNKNOWN__ 1 247769752 247769752 __UNKNOWN__ Missense_Mutation SNP A A G rs61730407 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:247769752A>G ENST00000320002.2 + 1 897 c.865A>G c.(865-867)Atc>Gtc p.I289V RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA NM_001001914.1 NP_001001914.1 Q8NGZ4 OR2G3_HUMAN olfactory receptor, family 2, subfamily G, member 3 289 NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5) 50 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) AAATCCTATCATCTATACTTT 0.418 NA A||| 1693 0.338059 0.2307 0.3127 5008 , , NA 19391 0.4325 NA 0.4394 False NA ,,, NA NA NA 2504 0.2996 NA NA NA NA 0 A VAL/ILE 1057,3349 385.1+/-325.6 140,777,1286 85 82 83 865 3.7 0.5 1 dbSNP_129 83 3646,4954 524.7+/-380.6 790,2066,1444 yes missense OR2G3 NM_001001914.1 29 930,2843,2730 GG,GA,AA 42.3953,23.99,36.1602 probably-damaging 289/310 247769752 4703,8303 2203 4300 6503 SO:0001583 missense BK004417 CCDS31093.1 1q44 2012-08-09 ENSG00000177476 ENSG00000177476 81469 GPCR / Class A : Olfactory receptors 15008 protein-coding gene gene with protein product NA Standard NM_001001914 NA Approved uc010pyz.2 Q8NGZ4 OTTHUMG00000040576 ENST00000320002.2:c.865A>G chr1.hg19:g.247769752A>G ENSP00000326301:p.Ile289Val NA B2RN64|Q5JQT1|Q6IF45 hg19 CCDS31093.1 0.02 24.791316 ATCxTCT COVERED 814 0.3727106227106227 104 0.21138211382113822 134 0.3701657458563536 247 0.4318181818181818 329 0.4340369393139842 A 14.76 2.630914 0.46944 0.2399 0.423953 ENSG00000177476 ENST00000320002 T 0.52057 0.68 3.65 3.65 0.41850 GPCR, rhodopsin-like superfamily (1); 0.000000 0.37178 U 0.002213 T 0.00012 0.0000 M 0.86651 2.83 0.49130 P 2.4500000000005073E-4 D 0.63046 0.992 D 0.80764 0.994 T 0.37731 -0.9693 9 0.66056 D 0.02 . 10.5906 0.45308 1.0:0.0:0.0:0.0 rs61730407 289 Q8NGZ4 OR2G3_HUMAN V 289 ENSP00000326301:I289V ENSP00000326301:I289V I + 1 0 OR2G3 245836375 0.445000 0.25657 0.531000 0.27976 0.988000 0.76386 0.983000 0.29552 1.648000 0.50643 0.403000 0.27427 ATC NOVEL OR2G3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000097624.1 1 11.098303 KEEP 0 0 0 37 1127 AA 1 1 0 + 37 60 1324 0 0 90.687038 530 60 19698 739 ENST00000320002.2 0.065256 1 OR13G1 441933 __UNKNOWN__ __UNKNOWN__ 1 247835674 247835674 __UNKNOWN__ Missense_Mutation SNP G G A rs28446289 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:247835674G>A ENST00000359688.2 - 1 691 c.670C>T c.(670-672)Cgt>Tgt p.R224C RP11-634B7.4_ENST00000449298.1_RNA NM_001005487.1 NP_001005487.1 Q8NGZ3 O13G1_HUMAN olfactory receptor, family 13, subfamily G, member 1 224 NA R -> C (in dbSNP:rs28446289). integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2) 35 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) GTGCGGATACGGAGAATAGCA 0.428 NA G||| 1657 0.330871 0.2958 0.2392 5008 , , NA 24096 0.3839 NA 0.3519 False NA ,,, NA NA NA 2504 0.3671 NA NA NA NA 0 G CYS/ARG 1312,3094 441.4+/-346.4 188,936,1079 119 106 111 670 1.1 0 1 dbSNP_125 111 3098,5502 474.1+/-368.8 562,1974,1764 yes missense OR13G1 NM_001005487.1 180 750,2910,2843 AA,AG,GG 36.0233,29.7776,33.9074 possibly-damaging 224/308 247835674 4410,8596 2203 4300 6503 SO:0001583 missense AB065623 CCDS31094.1 1q44 2012-08-09 ENSG00000197437 ENSG00000197437 441933 GPCR / Class A : Olfactory receptors 14999 protein-coding gene gene with protein product 611677 NA Standard NM_001005487 NM_001005487 NA Approved uc001idi.1 Q8NGZ3 OTTHUMG00000040212 ENST00000359688.2:c.670C>T chr1.hg19:g.247835674G>A ENSP00000352717:p.Arg224Cys NA B2RN80|Q5T2T2|Q6IF86 hg19 CCDS31094.1 0.02 19.219866 TACxGAG COVERED 682 0.31227106227106227 138 0.2804878048780488 88 0.2430939226519337 191 0.3339160839160839 265 0.3496042216358839 G 7.576 0.667780 0.14710 0.297776 0.360233 ENSG00000197437 ENST00000359688 T 0.00267 8.38 4.2 1.11 0.20524 GPCR, rhodopsin-like superfamily (1); 0.317710 0.22947 N 0.053716 T 0.00012 0.0000 M 0.87180 2.865 0.80722 P 0.0 B 0.24823 0.112 B 0.24269 0.052 T 0.43734 -0.9373 9 0.72032 D 0.01 -8.4764 6.3931 0.21597 0.0908:0.0:0.5911:0.3181 rs28446289;rs58765113;rs28446289 224 Q8NGZ3 O13G1_HUMAN C 224 ENSP00000352717:R224C ENSP00000352717:R224C R - 1 0 OR13G1 245902297 0.000000 0.05858 0.001000 0.08648 0.335000 0.28730 0.339000 0.19875 0.122000 0.18314 0.563000 0.77884 CGT NOVEL OR13G1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000096869.1 3 6.455173 KEEP 0 1 30 32 1094 GG 0.999998 0.999998 0 - 15 60 497 0 0 28.908989 438 60 15074 550 ENST00000359688.2 0.033113 1 OR2T8 343172 __UNKNOWN__ __UNKNOWN__ 1 248085149 248085149 __UNKNOWN__ Missense_Mutation SNP C C G rs112174271 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:248085149C>G ENST00000319968.4 + 1 830 c.830C>G c.(829-831)aCt>aGt p.T277S NM_001005522.1 NP_001005522.1 A6NH00 OR2T8_HUMAN olfactory receptor, family 2, subfamily T, member 8 277 NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 34 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0211) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GCCTTCTATACTATGTTCACC 0.488 NA C||| 447 0.0892572 0.1573 0.0144 5008 , , NA 14338 0.1954 NA 0.007 False NA ,,, NA NA NA 2504 0.0256 NA NA NA NA 0 C SER/THR 551,3855 241.2+/-251.7 39,473,1691 136 126 130 830 2.4 0 1 dbSNP_132 130 145,8451 70.0+/-132.6 0,145,4153 no missense OR2T8 NM_001005522.1 58 39,618,5844 GG,GC,CC 1.6868,12.5057,5.353 benign 277/313 248085149 696,12306 2203 4298 6501 SO:0001583 missense CCDS31100.1 1q44 2012-08-09 2004-03-10 ENSG00000177462 ENSG00000177462 343172 GPCR / Class A : Olfactory receptors 15020 protein-coding gene gene with protein product OR2T8P NA Standard NM_001005522 XM_005273117 NA Approved uc010pzc.2 A6NH00 OTTHUMG00000040205 ENST00000319968.4:c.830C>G chr1.hg19:g.248085149C>G ENSP00000326225:p.Thr277Ser NA hg19 CCDS31100.1 0.02 8.746506 ATAxTAT COVERED 193 0.08836996336996338 59 0.11991869918699187 8 0.022099447513812154 118 0.2062937062937063 8 0.010554089709762533 c 8.318 0.823650 0.16678 0.125057 0.016868 ENSG00000177462 ENST00000319968 T 0.00211 8.54 3.37 2.43 0.29744 GPCR, rhodopsin-like superfamily (1); 0.000000 0.34178 U 0.004198 T 0.00012 0.0000 L 0.56769 1.78 0.80722 P 0.0 B 0.21381 0.055 B 0.30646 0.118 T 0.39251 -0.9623 9 0.49607 T 0.09 . 12.0121 0.53293 0.0:0.8234:0.1766:0.0 . 277 A6NH00 OR2T8_HUMAN S 277 ENSP00000326225:T277S ENSP00000326225:T277S T + 2 0 OR2T8 246151772 0.000000 0.05858 0.001000 0.08648 0.032000 0.12392 0.106000 0.15354 0.584000 0.29591 0.404000 0.27445 ACT NOVEL OR2T8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000096862.1 0 4.815176 KEEP 0 0 0 16 553 CC 0.997832 0.997832 0 + 13 60 487 0 0 32.983985 226 60 8303 276 ENST00000319968.4 0.054393 1 OR2L13 284521 __UNKNOWN__ __UNKNOWN__ 1 248166472 248166472 __UNKNOWN__ Intron SNP C C T rs74155869 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:248166472C>T ENST00000366478.2 + 1 194 NM_175911.2 NP_787107.1 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, member 13 NA NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 59 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) TTTCATCTTACTGGGGCTGTT 0.408 NA t||| 1087 0.217053 0.5628 0.0893 5008 , , NA 21170 0.1597 NA 0.0507 False NA ,,, NA NA NA 2504 0.0706 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC028158 CCDS1637.1 1q44 2012-08-09 ENSG00000196071 ENSG00000196071 284521 GPCR / Class A : Olfactory receptors 19578 protein-coding gene gene with protein product OR2L14 NA Standard NM_175911 NM_175911 NA Approved uc001ids.3 Q8N349 OTTHUMG00000040446 ENST00000366478.2:c.-144+65786C>T chr1.hg19:g.248166472C>T NA Q5VUR5 hg19 CCDS1637.1 0.02 21.638409 TTAxTGG COVERED NOVEL OR2L13-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding 5 8.126882 KEEP 0 0 0 27 996 CC 0.999988 0.999988 0 + 15 60 545 0 0 32.058479 513 60 19654 700 ENST00000366478.2 0.028409 1 OR2L13 284521 __UNKNOWN__ __UNKNOWN__ 1 248166526 248166526 __UNKNOWN__ Intron SNP T T C rs61856388 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:248166526T>C ENST00000366478.2 + 1 194 NM_175911.2 NP_787107.1 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, member 13 NA NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 59 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) CCTCATTGTTTTCATTTTCCT 0.413 NA N||| 1738 0.347045 0.7852 0.1484 5008 , , NA 21502 0.3016 NA 0.1561 False NA ,,, NA NA NA 2504 0.1391 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC028158 CCDS1637.1 1q44 2012-08-09 ENSG00000196071 ENSG00000196071 284521 GPCR / Class A : Olfactory receptors 19578 protein-coding gene gene with protein product OR2L14 NA Standard NM_175911 NM_175911 NA Approved uc001ids.3 Q8N349 OTTHUMG00000040446 ENST00000366478.2:c.-144+65840T>C chr1.hg19:g.248166526T>C NA Q5VUR5 hg19 CCDS1637.1 0.02 21.614956 GTTxTCA COVERED NOVEL OR2L13-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding 2 2.744024 KEEP 1 1 34 21 695 TT 0.999879 0.999879 0 + 34 60 1298 0 0 92.519913 452 60 16383 614 ENST00000366478.2 0.069959 1 OR2L13 284521 __UNKNOWN__ __UNKNOWN__ 1 248167139 248167139 __UNKNOWN__ Intron SNP C C G rs72763234 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:248167139C>G ENST00000366478.2 + 1 194 NM_175911.2 NP_787107.1 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, member 13 NA NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 59 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) AAGAAGAAGGCCTACCTGACC 0.463 NA c||| 432 0.086262 0.1157 0.0288 5008 , , NA 22610 0.1419 NA 0.0666 False NA ,,, NA NA NA 2504 0.0501 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC028158 CCDS1637.1 1q44 2012-08-09 ENSG00000196071 ENSG00000196071 284521 GPCR / Class A : Olfactory receptors 19578 protein-coding gene gene with protein product OR2L14 NA Standard NM_175911 NM_175911 NA Approved uc001ids.3 Q8N349 OTTHUMG00000040446 ENST00000366478.2:c.-144+66453C>G chr1.hg19:g.248167139C>G NA Q5VUR5 hg19 CCDS1637.1 0.02 18.550852 AGGxCTA COVERED NOVEL OR2L13-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding 0 5.090203 KEEP 0 2 75 43 1530 CC 1 1 0 + 15 60 567 0 0 36.124411 383 60 14041 532 ENST00000366478.2 0.037688 1 OR2L13 284521 __UNKNOWN__ __UNKNOWN__ 1 248167268 248167268 __UNKNOWN__ Intron SNP C C T rs112212885 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:248167268C>T ENST00000366478.2 + 1 194 NM_175911.2 NP_787107.1 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, member 13 NA NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 59 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) TTCTACACCACCCTCACCCCA 0.483 NA t||| 761 0.151957 0.3275 0.0706 5008 , , NA 19432 0.1597 NA 0.0487 False NA ,,, NA NA NA 2504 0.0706 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC028158 CCDS1637.1 1q44 2012-08-09 ENSG00000196071 ENSG00000196071 284521 GPCR / Class A : Olfactory receptors 19578 protein-coding gene gene with protein product OR2L14 NA Standard NM_175911 NM_175911 NA Approved uc001ids.3 Q8N349 OTTHUMG00000040446 ENST00000366478.2:c.-144+66582C>T chr1.hg19:g.248167268C>T NA Q5VUR5 hg19 CCDS1637.1 0.02 8.100631 CCAxCCT COVERED NOVEL OR2L13-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding 1 6.621311 KEEP 0 0 0 22 770 CC 0.999879 0.999879 0 + 8 60 289 0 0 17.613998 224 60 8160 283 ENST00000366478.2 0.034483 1 OR2L2 26246 __UNKNOWN__ __UNKNOWN__ 1 248202344 248202344 __UNKNOWN__ Missense_Mutation SNP G G C rs6658141 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:248202344G>C ENST00000366479.2 + 1 871 c.775G>C c.(775-777)Gta>Cta p.V259L OR2L13_ENST00000366478.2_Intron NM_001004686.2 NP_001004686.1 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, member 2 259 NA V -> L (in dbSNP:rs6658141). integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1) 42 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) TTATACCTATGTACGTCCAAG 0.507 NA N||| 1728 0.345048 0.7799 0.1484 5008 , , NA 20898 0.3036 NA 0.1551 False NA ,,, NA NA NA 2504 0.135 NA NA NA NA 0 C LEU/VAL, 3005,1401 1027,951,225 157 141 146 775, 1.9 0 1 dbSNP_116 146 1249,7351 91,1067,3142 no missense,intron OR2L2,OR2L13 NM_001004686.2,NM_175911.2 32, 1118,2018,3367 CC,CG,GG 14.5233,31.7975,32.708 benign, 259/313, 248202344 4254,8752 2203 4300 6503 SO:0001583 missense X64978 CCDS31103.1 1q44 2012-08-09 ENSG00000203663 ENSG00000203663 26246 GPCR / Class A : Olfactory receptors 8266 protein-coding gene gene with protein product OR2L4P, OR2L12 NA 1370859 Standard NM_001004686 NM_001004686 NA Approved HTPCRH07, HSHTPCRH07 uc001idw.3 Q8NH16 OTTHUMG00000040214 ENST00000366479.2:c.775G>C chr1.hg19:g.248202344G>C ENSP00000355435:p.Val259Leu NA Q2M3T5 hg19 CCDS31103.1 0.02 32.550527 TATxTAC COVERED 751 0.34386446886446886 381 0.774390243902439 58 0.16022099447513813 201 0.3513986013986014 111 0.14643799472295516 . 0.161 -1.081535 0.01888 0.682025 0.145233 ENSG00000203663 ENST00000366479 T 0.33654 1.4 1.9 1.9 0.25705 GPCR, rhodopsin-like superfamily (1); 0.000000 0.26055 N 0.026610 T 0.00012 0.0000 . . . 0.80722 P 0.0 B 0.02656 0.0 B 0.04013 0.001 T 0.32771 -0.9894 8 0.12103 T 0.63 . 3.3465 0.07137 0.0:0.5:0.2296:0.2703 rs6658141;rs6658141 259 Q8NH16 OR2L2_HUMAN L 259 ENSP00000355435:V259L ENSP00000355435:V259L V + 1 0 OR2L2 246268967 0.000000 0.05858 0.007000 0.13788 0.132000 0.20833 -3.472000 0.00459 0.046000 0.15833 -1.041000 0.02371 GTA NOVEL OR2L2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000096871.1 2 6.252952 KEEP 0 1 38 34 1205 GG 0.999999 0.999999 0 + 41 60 1585 0 0 111.057347 630 60 23590 830 ENST00000366479.2 0.061103 1 OR2L3 391192 __UNKNOWN__ __UNKNOWN__ 1 248224099 248224099 __UNKNOWN__ Missense_Mutation SNP T T C rs6666048 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:248224099T>C ENST00000359959.3 + 1 116 c.116T>C c.(115-117)aTt>aCt p.I39T OR2L13_ENST00000366478.2_Intron NM_001004687.1 NP_001004687.1 Q8NG85 OR2L3_HUMAN olfactory receptor, family 2, subfamily L, member 3 39 NA I -> T (in dbSNP:rs6666048). integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1) 41 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) ATGGCTCTAATTGGAAACCTA 0.393 NA t||| 943 0.188299 0.298 0.098 5008 , , NA 20570 0.254 NA 0.1461 False NA ,,, NA NA NA 2504 0.0798 NA NA NA NA 0 T THR/ILE, 1206,3200 158,890,1155 249 246 247 116, 0.7 0 1 dbSNP_116 247 1186,7408 90,1006,3201 no missense,intron OR2L13,OR2L3 NM_001004687.1,NM_175911.2 89, 248,1896,4356 CC,CT,TT 13.8003,27.3718,18.4 benign, 39/313, 248224099 2392,10608 2203 4297 6500 SO:0001583 missense AB065950 CCDS31104.1 1q44 2012-08-09 ENSG00000198128 ENSG00000198128 391192 GPCR / Class A : Olfactory receptors 15009 protein-coding gene gene with protein product NA Standard NM_001004687 NM_001004687 NA Approved uc001idx.1 Q8NG85 OTTHUMG00000040195 ENST00000359959.3:c.116T>C chr1.hg19:g.248224099T>C ENSP00000353044:p.Ile39Thr NA B9EH44 hg19 CCDS31104.1 0.02 13.335623 TAAxTGG COVERED 465 0.2129120879120879 147 0.29878048780487804 37 0.10220994475138122 172 0.3006993006993007 109 0.1437994722955145 . 0 -2.828662 0.00070 0.273718 0.138003 ENSG00000198128 ENST00000359959 T 0.00472 7.19 2.05 0.726 0.18248 . . . . . T 0.00012 0.0000 N 0.04805 -0.155 0.80722 P 0.0 B 0.02656 0.0 B 0.06405 0.002 T 0.00341 -1.1804 8 0.12430 T 0.62 . 7.3385 0.26623 0.0:0.0:0.2246:0.7754 rs6666048;rs59835396 39 Q8NG85 OR2L3_HUMAN T 39 ENSP00000353044:I39T ENSP00000353044:I39T I + 2 0 OR2L3 246290722 0.000000 0.05858 0.006000 0.13384 0.016000 0.09150 0.425000 0.21346 0.023000 0.15187 0.379000 0.24179 ATT NOVEL OR2L3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000096852.1 4 5.250018 KEEP 0 1 27 27 889 TT 0.999997 0.999997 0 + 13 60 468 0 0 29.195997 328 60 11928 419 ENST00000359959.3 0.038123 1 OR2L3 391192 __UNKNOWN__ __UNKNOWN__ 1 248224216 248224216 __UNKNOWN__ Missense_Mutation SNP C C T rs6658227 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:248224216C>T ENST00000359959.3 + 1 233 c.233C>T c.(232-234)cCt>cTt p.P78L OR2L13_ENST00000366478.2_Intron NM_001004687.1 NP_001004687.1 Q8NG85 OR2L3_HUMAN olfactory receptor, family 2, subfamily L, member 3 78 NA P -> L (in dbSNP:rs6658227). integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1) 41 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) ACCATTGTTCCTAAGATGGCA 0.443 NA c||| 941 0.187899 0.298 0.098 5008 , , NA 22692 0.254 NA 0.1441 False NA ,,, NA NA NA 2504 0.0798 NA NA NA NA 0 C LEU/PRO, 1206,3200 158,890,1155 298 275 283 233, 2 0.9 1 dbSNP_116 283 1187,7413 90,1007,3203 no missense,intron OR2L13,OR2L3 NM_001004687.1,NM_175911.2 98, 248,1897,4358 TT,TC,CC 13.8023,27.3718,18.3992 probably-damaging, 78/313, 248224216 2393,10613 2203 4300 6503 SO:0001583 missense AB065950 CCDS31104.1 1q44 2012-08-09 ENSG00000198128 ENSG00000198128 391192 GPCR / Class A : Olfactory receptors 15009 protein-coding gene gene with protein product NA Standard NM_001004687 NM_001004687 NA Approved uc001idx.1 Q8NG85 OTTHUMG00000040195 ENST00000359959.3:c.233C>T chr1.hg19:g.248224216C>T ENSP00000353044:p.Pro78Leu NA B9EH44 hg19 CCDS31104.1 0.02 15.72232 TTCxTAA COVERED 465 0.2129120879120879 148 0.3008130081300813 37 0.10220994475138122 172 0.3006993006993007 108 0.1424802110817942 . 14.47 2.544357 0.45280 0.273718 0.138023 ENSG00000198128 ENST00000359959 T 0.01854 4.6 2.05 2.05 0.26809 GPCR, rhodopsin-like superfamily (1); 0.000000 0.31697 U 0.007204 T 0.00012 0.0000 M 0.93854 3.465 0.09310 P 0.99999426361 D 0.54964 0.969 P 0.61070 0.883 T 0.31943 -0.9925 9 0.87932 D 0 . 11.9647 0.53027 0.0:1.0:0.0:0.0 rs6658227;rs59129511;rs6658227 78 Q8NG85 OR2L3_HUMAN L 78 ENSP00000353044:P78L ENSP00000353044:P78L P + 2 0 OR2L3 246290839 0.991000 0.36638 0.866000 0.34008 0.388000 0.30384 2.852000 0.48310 1.124000 0.41980 0.462000 0.41574 CCT NOVEL OR2L3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000096852.1 4 8.42724 KEEP 0 0 0 28 977 CC 0.999997 0.999997 0 + 23 60 866 0 0 59.437197 374 60 13852 495 ENST00000359959.3 0.057935 1 OR2L3 391192 __UNKNOWN__ __UNKNOWN__ 1 248224294 248224294 __UNKNOWN__ Missense_Mutation SNP C C T rs6658256 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:248224294C>T ENST00000359959.3 + 1 311 c.311C>T c.(310-312)tCg>tTg p.S104L OR2L13_ENST00000366478.2_Intron NM_001004687.1 NP_001004687.1 Q8NG85 OR2L3_HUMAN olfactory receptor, family 2, subfamily L, member 3 104 NA S -> L (in dbSNP:rs6658256). integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1) 41 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) TTCTTCTTCTCGGCATTAGGA 0.433 NA t||| 1555 0.310503 0.7398 0.1326 5008 , , NA 23310 0.254 NA 0.1481 False NA ,,, NA NA NA 2504 0.0818 NA NA NA NA 0 T LEU/SER, 2644,1762 888,868,447 195 238 224 311, -2.4 0 1 dbSNP_116 224 970,7630 91,788,3421 no missense,intron OR2L13,OR2L3 NM_001004687.1,NM_175911.2 145, 979,1656,3868 TT,TC,CC 11.2791,39.9909,27.7872 benign, 104/313, 248224294 3614,9392 2203 4300 6503 SO:0001583 missense AB065950 CCDS31104.1 1q44 2012-08-09 ENSG00000198128 ENSG00000198128 391192 GPCR / Class A : Olfactory receptors 15009 protein-coding gene gene with protein product NA Standard NM_001004687 NM_001004687 NA Approved uc001idx.1 Q8NG85 OTTHUMG00000040195 ENST00000359959.3:c.311C>T chr1.hg19:g.248224294C>T ENSP00000353044:p.Ser104Leu NA B9EH44 hg19 CCDS31104.1 0.02 24.762909 TCTxGGC COVERED 574 0.26282051282051283 291 0.5914634146341463 42 0.11602209944751381 152 0.26573426573426573 89 0.11741424802110818 . 0.006 -2.115650 0.00349 0.600091 0.112791 ENSG00000198128 ENST00000359959 T 0.01335 5.0 1.91 -2.42 0.06542 GPCR, rhodopsin-like superfamily (1); 0.000000 0.26642 N 0.023253 T 0.00012 0.0000 N 0.00278 -1.715 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.11470 -1.0586 9 0.02654 T 1 . 5.0096 0.14306 0.0:0.235:0.1594:0.6056 rs6658256;rs6658256 104 Q8NG85 OR2L3_HUMAN L 104 ENSP00000353044:S104L ENSP00000353044:S104L S + 2 0 OR2L3 246290917 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -0.918000 0.04021 -0.429000 0.07329 -1.562000 0.00884 TCG NOVEL OR2L3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000096852.1 4 12.674167 KEEP 2 1 25 51 1740 CC 1 1 0 + 25 60 927 0 0 59.661912 567 60 20231 780 ENST00000359959.3 0.04223 1 OR2L3 391192 __UNKNOWN__ __UNKNOWN__ 1 248224398 248224398 __UNKNOWN__ Missense_Mutation SNP A A G rs55937620 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:248224398A>G ENST00000359959.3 + 1 415 c.415A>G c.(415-417)Atg>Gtg p.M139V OR2L13_ENST00000366478.2_Intron NM_001004687.1 NP_001004687.1 Q8NG85 OR2L3_HUMAN olfactory receptor, family 2, subfamily L, member 3 139 NA M -> V (in dbSNP:rs55937620). integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1) 41 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) GAGCAAAAGAATGTGTGTGCT 0.438 NA N||| 944 0.188498 0.298 0.098 5008 , , NA 24310 0.255 NA 0.1461 False NA ,,, NA NA NA 2504 0.0798 NA NA NA NA 0 G VAL/MET, 991,3415 158,675,1370 256 265 262 415, -2.2 0.9 1 dbSNP_129 262 944,7656 90,764,3446 no missense,intron OR2L13,OR2L3 NM_001004687.1,NM_175911.2 21, 248,1439,4816 GG,GA,AA 10.9767,22.4921,14.8777 benign, 139/313, 248224398 1935,11071 2203 4300 6503 SO:0001583 missense AB065950 CCDS31104.1 1q44 2012-08-09 ENSG00000198128 ENSG00000198128 391192 GPCR / Class A : Olfactory receptors 15009 protein-coding gene gene with protein product NA Standard NM_001004687 NM_001004687 NA Approved uc001idx.1 Q8NG85 OTTHUMG00000040195 ENST00000359959.3:c.415A>G chr1.hg19:g.248224398A>G ENSP00000353044:p.Met139Val NA B9EH44 hg19 CCDS31104.1 0.02 22.393058 AGAxTGT COVERED 479 0.21932234432234432 148 0.3008130081300813 38 0.10497237569060773 177 0.3094405594405594 116 0.15303430079155672 . 0.003 -2.460401 0.00171 0.224921 0.109767 ENSG00000198128 ENST00000359959 T 0.00024 8.97 1.91 -2.25 0.06888 GPCR, rhodopsin-like superfamily (1); 0.609878 0.12371 N 0.474751 T 0.00012 0.0000 N 0.00572 -1.36 0.80722 P 0.0 B 0.02656 0.0 B 0.04013 0.001 T 0.43491 -0.9388 9 0.02654 T 1 . 0.5076 0.00590 0.3842:0.2373:0.1884:0.1901 rs55937620;rs59840025;rs61856406 139 Q8NG85 OR2L3_HUMAN V 139 ENSP00000353044:M139V ENSP00000353044:M139V M + 1 0 OR2L3 246291021 0.000000 0.05858 0.889000 0.34880 0.071000 0.16799 -1.463000 0.02361 -0.738000 0.04817 -1.365000 0.01206 ATG NOVEL OR2L3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000096852.1 3 2.478126 KEEP 1 2 68 32 1048 AA 0.999998 0.999998 0 + 28 52 1009 0 0 66.71168 505 60 18459 657 ENST00000359959.3 0.052533 1 OR2L3 391192 __UNKNOWN__ __UNKNOWN__ 1 248224754 248224754 __UNKNOWN__ Silent SNP T T C rs55893924 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:248224754T>C ENST00000359959.3 + 1 771 c.771T>C c.(769-771)acT>acC p.T257T OR2L13_ENST00000366478.2_Intron NM_001004687.1 NP_001004687.1 Q8NG85 OR2L3_HUMAN olfactory receptor, family 2, subfamily L, member 3 257 NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1) 41 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) TTGTCTACACTTATCTACGTC 0.488 NA N||| 1555 0.310503 0.7398 0.1326 5008 , , NA 20515 0.254 NA 0.1481 False NA ,,, NA NA NA 2504 0.0818 NA NA NA NA 0 C , 2706,1700 500.3+/-364.7 826,1054,323 121 115 117 771, -4 0 1 dbSNP_129 117 1145,7449 760.4+/-407.6 69,1007,3221 no coding-synonymous,intron OR2L13,OR2L3 NM_001004687.1,NM_175911.2 , 895,2061,3544 CC,CT,TT 13.3232,38.5837,29.6231 , 257/313, 248224754 3851,9149 2203 4297 6500 SO:0001819 synonymous_variant AB065950 CCDS31104.1 1q44 2012-08-09 ENSG00000198128 ENSG00000198128 391192 GPCR / Class A : Olfactory receptors 15009 protein-coding gene gene with protein product NA Standard NM_001004687 NM_001004687 NA Approved uc001idx.1 Q8NG85 OTTHUMG00000040195 ENST00000359959.3:c.771T>C chr1.hg19:g.248224754T>C NA B9EH44 hg19 CCDS31104.1 0.02 17.353267 CACxTAT COVERED NOVEL OR2L3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000096852.1 1 5.253155 KEEP 7 1 39 31 1006 TT 0.999997 0.999997 0 + 22 60 847 0 0 58.663969 360 60 12998 490 ENST00000359959.3 0.057592 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 248285441 248285441 __UNKNOWN__ IGR SNP G G T rs6587422 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:248285441G>T NA NA OR2L13 (21217 upstream) : OR2M5 (23008 downstream) NA NA NA GTCCCCCATGGACGTCAGGCT 0.522 NA G||| 785 0.156749 0.3351 0.0706 5008 , , NA 21406 0.1796 NA 0.0736 False NA ,,, NA NA NA 2504 0.0389 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.248285441G>T NA hg19 0.02 5.419569 ATGxACG COVERED NOVEL 0 3 3.611349 KEEP 0 0 0 12 405 GG 0.993634 0.993634 0 6 60 203 0 0 11.994196 158 60 5727 180 0.036585 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 248285487 248285487 __UNKNOWN__ IGR SNP A A G rs6587423 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:248285487A>G NA NA OR2L13 (21263 upstream) : OR2M5 (22962 downstream) NA NA NA GCCTTCAACTACTTGTCTGGC 0.507 NA A||| 833 0.166334 0.3699 0.0735 5008 , , NA 22988 0.1796 NA 0.0736 False NA ,,, NA NA NA 2504 0.0389 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.248285487A>G NA hg19 0.02 9.209683 ACTxCTT COVERED NOVEL 0 3 8.095532 KEEP 0 0 0 27 801 AA 0.999988 0.999988 0 9 60 349 0 0 22.465157 235 60 8208 294 0.036885 1 OR2M5 127059 __UNKNOWN__ __UNKNOWN__ 1 248309356 248309356 __UNKNOWN__ Missense_Mutation SNP A A G rs73141283 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:248309356A>G ENST00000366476.1 + 1 907 c.907A>G c.(907-909)Aaa>Gaa p.K303E NM_001004690.1 NP_001004690.1 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, member 5 303 NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 49 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) AGCACTCAGGAAAGTGTTAGG 0.453 NA a||| 273 0.0545128 0.0575 0.0187 5008 , , NA 17595 0.0754 NA 0.0646 False NA ,,, NA NA NA 2504 0.044 NA NA NA NA 0 A GLU/LYS 248,4158 123.3+/-160.7 10,228,1965 61 57 58 907 2.7 0.1 1 dbSNP_130 58 457,8143 109.4+/-169.9 19,419,3862 yes missense OR2M5 NM_001004690.1 56 29,647,5827 GG,GA,AA 5.314,5.6287,5.4206 possibly-damaging 303/313 248309356 705,12301 2203 4300 6503 SO:0001583 missense CCDS31105.1 1q44 2012-08-09 2004-03-10 ENSG00000162727 ENSG00000162727 127059 GPCR / Class A : Olfactory receptors 19576 protein-coding gene gene with protein product OR2M5P NA Standard NM_001004690 NM_001004690 NA Approved uc010pze.2 A3KFT3 OTTHUMG00000040447 ENST00000366476.1:c.907A>G chr1.hg19:g.248309356A>G ENSP00000355432:p.Lys303Glu NA hg19 CCDS31105.1 0.02 21.715983 AGGxAAG COVERED 140 0.0641025641025641 30 0.06097560975609756 8 0.022099447513812154 57 0.09965034965034965 45 0.059366754617414245 a 12.30 1.896938 0.33535 0.056287 0.05314 ENSG00000162727 ENST00000366476 T 0.40476 1.03 2.65 2.65 0.31530 . . . . . T 0.01558 0.0050 M 0.82923 2.615 0.80722 P 0.0 B 0.14805 0.011 B 0.18871 0.023 T 0.29119 -1.0022 8 0.87932 D 0 . 8.6949 0.34289 1.0:0.0:0.0:0.0 . 303 A3KFT3 OR2M5_HUMAN E 303 ENSP00000355432:K303E ENSP00000355432:K303E K + 1 0 OR2M5 246375979 0.003000 0.15002 0.066000 0.19879 0.030000 0.12068 1.499000 0.35671 0.948000 0.37687 0.317000 0.21355 AAA NOVEL OR2M5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000097343.1 2 21.950366 KEEP 0 0 0 73 2284 AA 1 1 0 + 15 60 550 0 0 32.800568 494 60 17741 717 ENST00000366476.1 0.02947 1 OR2T12 127064 __UNKNOWN__ __UNKNOWN__ 1 248457993 248457993 __UNKNOWN__ Missense_Mutation SNP C C G rs11204625 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:248457993C>G ENST00000317996.1 - 1 887 c.888G>C c.(886-888)aaG>aaC p.K296N NM_001004692.1 NP_001004692.1 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, member 12 296 NA K -> N (in dbSNP:rs11204625). integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0201) TCAGGGCTTCCTTGACCTCAC 0.473 NA N||| 1067 0.213059 0.0091 0.2464 5008 , , NA 18443 0.3591 NA 0.174 False NA ,,, NA NA NA 2504 0.3548 NA NA NA NA 0 C ASN/LYS 194,4212 4,186,2013 165 160 161 888 -3.4 0 1 dbSNP_120 161 1474,7126 128,1218,2954 no missense OR2T12 NM_001004692.1 94 132,1404,4967 GG,GC,CC 17.1395,4.4031,12.8249 probably-damaging 296/321 248457993 1668,11338 2203 4300 6503 SO:0001583 missense BK004485 CCDS31110.1 1q44 2012-08-09 ENSG00000177201 ENSG00000177201 127064 GPCR / Class A : Olfactory receptors 19592 protein-coding gene gene with protein product NA Standard NM_001004692 NM_001004692 NA Approved uc010pzj.2 Q8NG77 OTTHUMG00000040457 ENST00000317996.1:c.888G>C chr1.hg19:g.248457993C>G ENSP00000324583:p.Lys296Asn NA hg19 CCDS31110.1 0.02 24.448104 TTCxTTG COVERED 424 0.19413919413919414 8 0.016260162601626018 74 0.20441988950276244 198 0.34615384615384615 144 0.18997361477572558 - 11.27 1.588879 0.28357 0.044031 0.171395 ENSG00000177201 ENST00000317996 T 0.40756 1.02 1.71 -3.42 0.04825 . 0.258640 0.19945 U 0.102541 T 0.00012 0.0000 M 0.69248 2.105 0.80722 P 0.0 P 0.52316 0.952 P 0.52598 0.703 T 0.11108 -1.0601 9 0.34782 T 0.22 . 4.0137 0.09634 0.1652:0.4839:0.0:0.351 rs11204625;rs11204625 296 Q8NG77 O2T12_HUMAN N 296 ENSP00000324583:K296N ENSP00000324583:K296N K - 3 2 OR2T12 246524616 0.000000 0.05858 0.000000 0.03702 0.059000 0.15707 -0.317000 0.08060 -0.825000 0.04290 0.418000 0.28097 AAG NOVEL OR2T12-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000097353.1 2 18.360638 KEEP 0 0 0 61 2232 CC 1 1 0 - 25 60 912 0 0 58.544615 547 60 21012 774 ENST00000317996.1 0.043706 1 OR14C36 127066 __UNKNOWN__ __UNKNOWN__ 1 248512498 248512498 __UNKNOWN__ Missense_Mutation SNP A A G rs28448343 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:248512498A>G ENST00000317861.1 + 1 422 c.422A>G c.(421-423)cAg>cGg p.Q141R NM_001001918.1 NP_001001918.1 Q8NHC7 O14CZ_HUMAN olfactory receptor, family 14, subfamily C, member 36 141 NA Q -> R (in dbSNP:rs28448343). integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2) 43 ATCTGCATCCAGATGACACTG 0.522 NA a||| 1274 0.254393 0.0923 0.2594 5008 , , NA 22483 0.4276 NA 0.1938 False NA ,,, NA NA NA 2504 0.3538 NA NA NA NA 0 A ARG/GLN 484,3922 225.2+/-241.2 28,428,1747 108 94 99 422 -1.4 0 1 dbSNP_125 99 1637,6963 303.4+/-306.4 154,1329,2817 yes missense OR14C36 NM_001001918.1 43 182,1757,4564 GG,GA,AA 19.0349,10.985,16.3079 probably-damaging 141/313 248512498 2121,10885 2203 4300 6503 SO:0001583 missense BK004466 CCDS31112.1 1q44 2012-08-09 2008-04-02 2008-04-02 ENSG00000177174 ENSG00000177174 127066 GPCR / Class A : Olfactory receptors 15026 protein-coding gene gene with protein product olfactory receptor, family 5, subfamily BF, member 1 OR5BF1 NA Standard NM_001001918 NM_001001918 NA Approved uc010pzl.2 Q8NHC7 OTTHUMG00000040463 ENST00000317861.1:c.422A>G chr1.hg19:g.248512498A>G ENSP00000324534:p.Gln141Arg NA Q6IEZ6 hg19 CCDS31112.1 0.02 8.566821 TCCxGAT COVERED 530 0.24267399267399267 61 0.12398373983739837 80 0.22099447513812154 232 0.40559440559440557 157 0.20712401055408972 A 10.28 1.305831 0.23736 0.10985 0.190349 ENSG00000177174 ENST00000317861 T 0.00091 8.74 4.05 -1.39 0.08997 GPCR, rhodopsin-like superfamily (1); 0.581781 0.14757 N 0.300211 T 0.00012 0.0000 L 0.42686 1.345 0.80722 P 0.0 D 0.60575 0.988 D 0.64877 0.93 T 0.11227 -1.0596 9 0.17832 T 0.49 . 1.3952 0.02259 0.4131:0.2239:0.2448:0.1182 rs28448343 141 Q8NHC7 O14CZ_HUMAN R 141 ENSP00000324534:Q141R ENSP00000324534:Q141R Q + 2 0 OR14C36 246579121 0.000000 0.05858 0.000000 0.03702 0.388000 0.30384 -1.082000 0.03400 -0.119000 0.11830 -0.560000 0.04181 CAG NOVEL OR14C36-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000097359.1 1 2.70846 KEEP 0 0 0 9 290 AA 0.99254 0.99254 0 + 8 60 269 0 0 15.913203 206 60 7676 254 ENST00000317861.1 0.037383 1 OR2T6 254879 __UNKNOWN__ __UNKNOWN__ 1 248550970 248550970 __UNKNOWN__ Missense_Mutation SNP A A G rs7417616 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:248550970A>G ENST00000355728.2 + 1 61 c.61A>G c.(61-63)Aat>Gat p.N21D NM_001005471.1 NP_001005471.1 Q8NHC8 OR2T6_HUMAN olfactory receptor, family 2, subfamily T, member 6 21 NA N -> D (in dbSNP:rs7417616). integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CTTCACTCACAATAAATGCTC 0.433 NA g||| 1890 0.377396 0.5234 0.3156 5008 , , NA 15093 0.4375 NA 0.1769 False NA ,,, NA NA NA 2504 0.3681 NA NA NA NA 0 G ASP/ASN 2003,2403 615.1+/-392.5 466,1071,666 148 142 144 61 -6.2 0 1 dbSNP_116 144 1299,7301 758.8+/-407.5 92,1115,3093 yes missense OR2T6 NM_001005471.1 23 558,2186,3759 GG,GA,AA 15.1047,45.4607,25.3883 benign 21/309 248550970 3302,9704 2203 4300 6503 SO:0001583 missense AF399481 CCDS31114.1 1q44 2012-08-09 2004-03-10 ENSG00000198104 ENSG00000198104 254879 GPCR / Class A : Olfactory receptors 15018 protein-coding gene gene with protein product OR2T6P, OR2T9 NA Standard NM_001005471 NM_001005471 NA Approved OST703 uc001iei.1 Q8NHC8 OTTHUMG00000040448 ENST00000355728.2:c.61A>G chr1.hg19:g.248550970A>G ENSP00000347965:p.Asn21Asp NA A6NE36 hg19 CCDS31114.1 0.02 14.905276 CACxATA COVERED 744 0.34065934065934067 262 0.532520325203252 96 0.26519337016574585 243 0.42482517482517484 143 0.18865435356200527 G 11.81 1.749870 0.30955 0.454607 0.151047 ENSG00000198104 ENST00000355728 T 0.02974 4.09 4.48 -6.15 0.02105 . 1.525930 0.03801 N 0.264518 T 0.00012 0.0000 N 0.20685 0.6 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.41070 -0.9529 9 0.62326 D 0.03 . 4.0254 0.09685 0.4105:0.1039:0.3836:0.102 rs7417616;rs60973717;rs7417616 21 Q8NHC8 OR2T6_HUMAN D 21 ENSP00000347965:N21D ENSP00000347965:N21D N + 1 0 OR2T6 246617593 0.000000 0.05858 0.000000 0.03702 0.009000 0.06853 -3.757000 0.00374 -1.171000 0.02765 -1.555000 0.00892 AAT NOVEL OR2T6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000097344.1 2 12.037363 KEEP 0 0 0 40 1288 AA 1 1 0 + 11 60 381 0 0 21.974645 351 60 12852 497 ENST00000355728.2 0.030387 1 OR2T6 254879 __UNKNOWN__ __UNKNOWN__ 1 248550976 248550976 __UNKNOWN__ Missense_Mutation SNP T T G rs6587467 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:248550976T>G ENST00000355728.2 + 1 67 c.67T>G c.(67-69)Tgc>Ggc p.C23G NM_001005471.1 NP_001005471.1 Q8NHC8 OR2T6_HUMAN olfactory receptor, family 2, subfamily T, member 6 23 NA C -> G (in dbSNP:rs6587467). integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TCACAATAAATGCTCAGGATT 0.428 NA g||| 3870 0.772764 0.8684 0.7406 5008 , , NA 14943 0.749 NA 0.66 False NA ,,, NA NA NA 2504 0.8067 NA NA NA NA 0 G GLY/CYS 3743,663 281.6+/-276.1 1595,553,55 158 149 152 67 -2 0 1 dbSNP_116 152 6026,2574 419.8+/-353.2 2115,1796,389 yes missense OR2T6 NM_001005471.1 159 3710,2349,444 GG,GT,TT 29.9302,15.0477,24.8885 benign 23/309 248550976 9769,3237 2203 4300 6503 SO:0001583 missense AF399481 CCDS31114.1 1q44 2012-08-09 2004-03-10 ENSG00000198104 ENSG00000198104 254879 GPCR / Class A : Olfactory receptors 15018 protein-coding gene gene with protein product OR2T6P, OR2T9 NA Standard NM_001005471 NM_001005471 NA Approved OST703 uc001iei.1 Q8NHC8 OTTHUMG00000040448 ENST00000355728.2:c.67T>G chr1.hg19:g.248550976T>G ENSP00000347965:p.Cys23Gly NA A6NE36 hg19 CCDS31114.1 0.02 14.938777 AAAxGCT COVERED 1597 0.7312271062271062 424 0.8617886178861789 250 0.6906077348066298 416 0.7272727272727273 507 0.6688654353562006 G 6.506 0.461581 0.12342 0.849523 0.700698 ENSG00000198104 ENST00000355728 T 0.02974 4.09 4.9 -2.04 0.07343 . 2.232540 0.01927 N 0.040922 T 0.00012 0.0000 N 0.00926 -1.1 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.18461 -1.0336 9 0.26408 T 0.33 . 4.5913 0.12307 0.4641:0.0:0.2915:0.2444 rs6587467;rs59341329;rs6587467 23 Q8NHC8 OR2T6_HUMAN G 23 ENSP00000347965:C23G ENSP00000347965:C23G C + 1 0 OR2T6 246617599 0.000000 0.05858 0.000000 0.03702 0.012000 0.07955 -1.583000 0.02115 -0.662000 0.05338 -0.132000 0.14878 TGC NOVEL OR2T6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000097344.1 2 7.960698 KEEP 0 1 39 40 1263 TT 1 1 0 + 12 60 447 0 0 27.287596 369 60 13445 512 ENST00000355728.2 0.031496 1 OR2T6 254879 __UNKNOWN__ __UNKNOWN__ 1 248551636 248551636 __UNKNOWN__ Missense_Mutation SNP T T G rs954475 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:248551636T>G ENST00000355728.2 + 1 727 c.727T>G c.(727-729)Tca>Gca p.S243A NM_001005471.1 NP_001005471.1 Q8NHC8 OR2T6_HUMAN olfactory receptor, family 2, subfamily T, member 6 243 NA S -> A (in dbSNP:rs954475). integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CACCTGCTCTTCACACATGAT 0.507 NA t||| 1851 0.369609 0.4962 0.3127 5008 , , NA 22655 0.4365 NA 0.1769 False NA ,,, NA NA NA 2504 0.3681 NA NA NA NA 0 T ALA/SER 1921,2485 548.5+/-377.6 423,1075,705 259 220 234 727 2.8 0 1 dbSNP_86 234 1297,7303 256.6+/-281.0 92,1113,3095 yes missense OR2T6 NM_001005471.1 99 515,2188,3800 GG,GT,TT 15.0814,43.5996,24.7424 probably-damaging 243/309 248551636 3218,9788 2203 4300 6503 SO:0001583 missense AF399481 CCDS31114.1 1q44 2012-08-09 2004-03-10 ENSG00000198104 ENSG00000198104 254879 GPCR / Class A : Olfactory receptors 15018 protein-coding gene gene with protein product OR2T6P, OR2T9 NA Standard NM_001005471 NM_001005471 NA Approved OST703 uc001iei.1 Q8NHC8 OTTHUMG00000040448 ENST00000355728.2:c.727T>G chr1.hg19:g.248551636T>G ENSP00000347965:p.Ser243Ala NA A6NE36 hg19 CCDS31114.1 0.02 15.47453 TCTxCAC COVERED 720 0.32967032967032966 241 0.4898373983739837 94 0.2596685082872928 242 0.4230769230769231 143 0.18865435356200527 T 11.11 1.542475 0.27563 0.435996 0.150814 ENSG00000198104 ENST00000355728 T 0.38887 1.11 4.02 2.85 0.33270 GPCR, rhodopsin-like superfamily (1); 0.000000 0.37219 N 0.002182 T 0.00012 0.0000 M 0.76938 2.355 0.50632 P 1.1300000000002974E-4 D 0.89917 1.0 D 0.97110 1.0 T 0.45381 -0.9265 9 0.87932 D 0 . 6.292 0.21065 0.0:0.089:0.1626:0.7484 rs954475;rs52796985;rs954475 243 Q8NHC8 OR2T6_HUMAN A 243 ENSP00000347965:S243A ENSP00000347965:S243A S + 1 0 OR2T6 246618259 0.237000 0.23815 0.048000 0.18961 0.377000 0.30045 0.605000 0.24179 0.673000 0.31224 0.523000 0.50628 TCA NOVEL OR2T6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000097344.1 2 9.027004 KEEP 0 0 0 30 931 TT 0.999997 0.999997 0 + 12 60 436 0 0 26.53735 346 60 12334 440 ENST00000355728.2 0.03352 1 OR2T7 81458 __UNKNOWN__ __UNKNOWN__ 1 248604839 248604839 __UNKNOWN__ Missense_Mutation SNP G G A rs61834488 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:248604839G>A ENST00000460972.3 + 1 332 c.332G>A c.(331-333)tGt>tAt p.C111Y P0C7T2 OR2T7_HUMAN olfactory receptor, family 2, subfamily T, member 7 111 NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) NA CTCATGTCCTGTGATCGCTAC 0.552 NA .||| 495 0.0988419 0.2632 0.0346 5008 , , NA 23933 0.0367 NA 0.0477 False NA ,,, NA NA NA 2504 0.0389 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense 1q44 2013-09-05 2004-03-10 ENSG00000227152 ENSG00000227152 81458 GPCR / Class A : Olfactory receptors 15019 protein-coding gene gene with protein product OR2T7P NA Standard NG_004272 NA Approved OST723 P0C7T2 OTTHUMG00000040449 ENST00000460972.3:c.332G>A chr1.hg19:g.248604839G>A ENSP00000475521:p.Cys111Tyr NA hg19 0.02 11.747611 CCTxTGA COVERED NOVEL OR2T7-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000097345.3 1 7.193005 KEEP 83 2 60 45 1628 GG 1 1 0 + 13 27 462 0 0 28.452272 327 60 12230 560 ENST00000460972.3 0.038235 1 OR2T7 81458 __UNKNOWN__ __UNKNOWN__ 1 248605395 248605395 __UNKNOWN__ Silent SNP T T G rs28631666 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:248605395T>G ENST00000460972.3 + 1 888 c.888T>G c.(886-888)gtT>gtG p.V296V P0C7T2 OR2T7_HUMAN olfactory receptor, family 2, subfamily T, member 7 296 NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) NA AGAAGGTTGTTGGGAGGTGTG 0.453 NA G||| 1515 0.302516 0.2595 0.2968 5008 , , NA 21491 0.4286 NA 0.168 False NA ,,, NA NA NA 2504 0.3732 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001819 synonymous_variant 1q44 2013-09-05 2004-03-10 ENSG00000227152 ENSG00000227152 81458 GPCR / Class A : Olfactory receptors 15019 protein-coding gene gene with protein product OR2T7P NA Standard NG_004272 NA Approved OST723 P0C7T2 OTTHUMG00000040449 ENST00000460972.3:c.888T>G chr1.hg19:g.248605395T>G NA hg19 0.02 10.14355 TGTxGGG COVERED NOVEL OR2T7-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000097345.3 3 5.71732 KEEP 14 0 0 19 597 TT 0.999366 0.999366 0 + 21 60 803 0 0 59.437513 218 60 8082 332 ENST00000460972.3 0.087866 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 248651867 248651867 __UNKNOWN__ IGR SNP C C A rs35071334 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:248651867C>A NA NA RP11-407H12.8 (3082 upstream) : OR2T5 (17 downstream) NA NA NA CAAAACTCTCCTTGGTGGCCT 0.488 NA .||| 1022 0.204073 0.0968 0.1585 5008 , , NA 12972 0.4127 NA 0.0835 False NA ,,, NA NA NA 2504 0.2904 NA NA NA NA 0 7 13 11 NA NA 1 NA 248651867 2125 4227 6352 SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.248651867C>A NA hg19 0.02 17.428391 CTCxTTG COVERED NOVEL 0 2 9.932505 KEEP 116 0 0 33 1207 CC 0.99986 0.99986 0 14 50 507 0 0 30.776355 404 50 15375 651 0.033493 1 RP11-438F14.3 0 __UNKNOWN__ __UNKNOWN__ 1 248722883 248722883 __UNKNOWN__ RNA SNP A A G rs78125102 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:248722883A>G ENST00000438623.1 + 0 91 NA NA NA ACATTTGTGTATGCTCATTGT 0.413 NA .||| 2259 0.451078 0.4841 0.353 5008 , , NA 26159 0.6141 NA 0.2913 False NA ,,, NA NA NA 2504 0.4724 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000438623.1: chr1.hg19:g.248722883A>G NA hg19 0.02 20.041568 TGTxTGC COVERED NOVEL RP11-438F14.3-001 KNOWN basic antisense NA antisense OTTHUMT00000097136.1 2 9.627876 KEEP 69 0 0 32 981 AA 0.999997 0.999997 0 + 12 49 459 0 0 27.343843 461 50 16983 670 ENST00000438623.1 0.02537 1 OR2T35 403244 __UNKNOWN__ __UNKNOWN__ 1 248801897 248801897 __UNKNOWN__ Silent SNP G G A rs79303917 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:248801897G>A ENST00000317450.3 - 1 662 c.663C>T c.(661-663)atC>atT p.I221I NM_001001827.1 NP_001001827.1 Q8NGX2 O2T35_HUMAN olfactory receptor, family 2, subfamily T, member 35 221 NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) p.I221I(1) endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1) 6 all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.237) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CAGTCAGGAGGATGTGCGTGT 0.542 NA NA NA NA NA NA NA NA NA NA NA 1 Substitution - coding silent(1) ovary(1) G 125,3975 2,121,1927 102 89 93 663 -0.2 0 1 dbSNP_131 93 877,7621 4,869,3376 no coding-synonymous OR2T35 NM_001001827.1 6,990,5303 AA,AG,GG 10.3201,3.0488,7.9536 221/324 248801897 1002,11596 2050 4249 6299 SO:0001819 synonymous_variant BK004475 CCDS31123.1 1q44 2012-08-09 ENSG00000177151 ENSG00000177151 403244 GPCR / Class A : Olfactory receptors 31257 protein-coding gene gene with protein product NA Standard NM_001001827 NM_001001827 NA Approved uc001ies.1 Q8NGX2 OTTHUMG00000040380 ENST00000317450.3:c.663C>T chr1.hg19:g.248801897G>A NA Q6IEY7 hg19 CCDS31123.1 0.02 18.73013 GAGxATG COVERED NOVEL OR2T35-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000097130.1 3 9.63101 KEEP 39 0 0 32 1118 GG 0.999997 0.999997 0 - 17 49 613 0 0 37.423279 469 60 17199 643 ENST00000317450.3 0.034979 1 OR2T27 403239 __UNKNOWN__ __UNKNOWN__ 1 248813723 248813723 __UNKNOWN__ Missense_Mutation SNP C C T rs138825902 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:248813723C>T ENST00000344889.3 - 1 462 c.463G>A c.(463-465)Gat>Aat p.D155N NM_001001824.1 NP_001001824.1 Q8NH04 O2T27_HUMAN olfactory receptor, family 2, subfamily T, member 27 155 NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1) 32 all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199) all_cancers(173;0.237) OV - Ovarian serous cystadenocarcinoma(106;0.0265) AAGAAACCATCGATAGACCCT 0.577 NA C||| 690 0.13778 0.1906 0.0836 5008 , , NA 19973 0.2599 NA 0.0835 False NA ,,, NA NA NA 2504 0.0348 NA NA NA NA 0 21 12 15 NA NA 1 NA 248813723 2156 3870 6026 SO:0001583 missense CCDS31124.1 1q44 2012-08-09 ENSG00000187701 ENSG00000187701 403239 GPCR / Class A : Olfactory receptors 31252 protein-coding gene gene with protein product NA Standard NM_001001824 NM_001001824 NA Approved uc010pzo.2 Q8NH04 OTTHUMG00000040376 ENST00000344889.3:c.463G>A chr1.hg19:g.248813723C>T ENSP00000342008:p.Asp155Asn NA hg19 CCDS31124.1 0.02 4.563834 CATxGAT COVERED 325 0.1488095238095238 73 0.1483739837398374 33 0.09116022099447514 146 0.25524475524475526 73 0.09630606860158311 . 2.953 -0.216289 0.06101 . . ENSG00000187701 ENST00000344889 T 0.36520 1.25 3.3 1.12 0.20585 GPCR, rhodopsin-like superfamily (1); 0.000000 0.42821 D 0.000647 T 0.00012 0.0000 N 0.03253 -0.375 0.80722 P 0.0 D 0.54964 0.969 P 0.51297 0.665 T 0.14392 -1.0474 9 0.16420 T 0.52 . 2.5773 0.04809 0.2123:0.4412:0.0:0.3465 . 155 Q8NH04 O2T27_HUMAN N 155 ENSP00000342008:D155N ENSP00000342008:D155N D - 1 0 OR2T27 246880346 0.000000 0.05858 0.049000 0.19019 0.021000 0.10359 -1.352000 0.02619 0.714000 0.32081 0.194000 0.17425 GAT NOVEL OR2T27-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000097124.1 3 5.416787 KEEP 97 0 0 18 588 CC 0.99257 0.992552 0 - 9 49 310 0 0 22.004364 95 45 3358 250 ENST00000344889.3 0.086538 0.999981 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 248907678 248907678 __UNKNOWN__ IGR SNP C C T rs35731280 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:248907678C>T NA NA LYPD8 (4528 upstream) : SH3BP5L (196971 downstream) NA NA NA GGCCAGCACCCACCCAGGGCA 0.463 NA C||| 1932 0.385783 0.618 0.268 5008 , , NA 22192 0.4821 NA 0.1223 False NA ,,, NA NA NA 2504 0.3272 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.248907678C>T NA hg19 0.02 -0.254416 ACCxACC COVERED NOVEL 0 0 2.407789 KEEP 1 0 0 8 275 CC 0.99257 0.663556 0 3 60 112 0 0 11.16977 2 60 75 71 0.6 0.668523 SH3BP5L 80851 __UNKNOWN__ __UNKNOWN__ 1 249105163 249105163 __UNKNOWN__ 3'UTR SNP T T C rs4307600 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:249105163T>C ENST00000366472.5 - 0 3347 SH3BP5L_ENST00000475978.1_5'UTR NM_030645.1 NP_085148.1 Q7L8J4 3BP5L_HUMAN SH3-binding domain protein 5-like NA NA endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.19) OV - Ovarian serous cystadenocarcinoma(106;0.00805) CCTAACCCCGTCCTGCAGGAG 0.537 NA C||| 2325 0.464257 0.8593 0.2262 5008 , , NA 21276 0.5565 NA 0.1451 False NA ,,, NA NA NA 2504 0.3323 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB051507 CCDS31126.1 1q44 2008-02-05 ENSG00000175137 ENSG00000175137 80851 29360 protein-coding gene gene with protein product NA Standard NM_030645 NM_030645 NA Approved KIAA1720 uc001iew.1 Q7L8J4 OTTHUMG00000040389 ENST00000366472.5:c.*936A>G chr1.hg19:g.249105163T>C NA B4DQ94|Q96FI5|Q9BQH8|Q9C0E3 hg19 CCDS31126.1 0.02 8.917689 CCGxCCT COVERED NOVEL SH3BP5L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000097140.1 2 8.124607 KEEP 0 0 0 27 858 TT 0.999988 0.999988 0 - 11 60 389 0 0 24.969977 221 60 7699 299 ENST00000366472.5 0.047414 1 SH3BP5L 80851 __UNKNOWN__ __UNKNOWN__ 1 249108640 249108640 __UNKNOWN__ Intron SNP C C T rs12031808 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:249108640C>T ENST00000366472.5 - 5 1767 SH3BP5L_ENST00000411742.2_Intron|SH3BP5L_ENST00000475978.1_Intron NM_030645.1 NP_085148.1 Q7L8J4 3BP5L_HUMAN SH3-binding domain protein 5-like NA NA endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.19) OV - Ovarian serous cystadenocarcinoma(106;0.00805) TGGCACCGCCCGGCTCACCTT 0.552 NA C||| 1310 0.261581 0.5174 0.0879 5008 , , NA 19513 0.3869 NA 0.0934 False NA ,,, NA NA NA 2504 0.0828 NA NA NA NA 0 C 2042,2364 556.0+/-379.4 478,1086,639 71 56 61 -3.8 0 1 dbSNP_120 61 872,7728 194.5+/-239.9 39,794,3467 no intron SH3BP5L NM_030645.1 517,1880,4106 TT,TC,CC 10.1395,46.3459,22.405 249108640 2914,10092 2203 4300 6503 SO:0001627 intron_variant AB051507 CCDS31126.1 1q44 2008-02-05 ENSG00000175137 ENSG00000175137 80851 29360 protein-coding gene gene with protein product NA Standard NM_030645 NM_030645 NA Approved KIAA1720 uc001iew.1 Q7L8J4 OTTHUMG00000040389 ENST00000366472.5:c.537+7G>A chr1.hg19:g.249108640C>T NA B4DQ94|Q96FI5|Q9BQH8|Q9C0E3 hg19 CCDS31126.1 0.02 2.37356 GCCxGGC COVERED NOVEL SH3BP5L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000097140.1 0 3.611752 KEEP 0 0 0 12 422 CC 0.993634 0.990378 0 - 5 60 194 0 0 13.965508 65 60 2329 101 ENST00000366472.5 0.071429 0.996724 SH3BP5L 80851 __UNKNOWN__ __UNKNOWN__ 1 249120684 249120684 __UNKNOWN__ 5'UTR SNP T T G rs11205415 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:249120684T>G ENST00000366472.5 - 0 148 NM_030645.1 NP_085148.1 Q7L8J4 3BP5L_HUMAN SH3-binding domain protein 5-like NA NA endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.19) OV - Ovarian serous cystadenocarcinoma(106;0.00805) GGCTCCGATGTGTAAATCCCA 0.552 NA OREG0014372 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) G||| 1966 0.392572 0.6415 0.1859 5008 , , NA 18568 0.5823 NA 0.0875 False NA ,,, NA NA NA 2504 0.3211 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AB051507 CCDS31126.1 1q44 2008-02-05 ENSG00000175137 ENSG00000175137 80851 29360 protein-coding gene gene with protein product NA Standard NM_030645 NM_030645 NA Approved KIAA1720 uc001iew.1 Q7L8J4 OTTHUMG00000040389 ENST00000366472.5:c.-1082A>C chr1.hg19:g.249120684T>G 2485 B4DQ94|Q96FI5|Q9BQH8|Q9C0E3 hg19 CCDS31126.1 0.02 7.509506 ATGxGTA COVERED NOVEL SH3BP5L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000097140.1 0 32.468205 KEEP 0 2 72 133 4183 TT 1 1 0 - 17 60 606 0 0 44.514239 159 60 5678 421 ENST00000366472.5 0.096591 1 ZNF672 79894 __UNKNOWN__ __UNKNOWN__ 1 249142169 249142169 __UNKNOWN__ Silent SNP C C T rs58906520 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:249142169C>T ENST00000306562.3 + 4 1442 c.696C>T c.(694-696)tgC>tgT p.C232C NM_024836.1 NP_079112.1 Q499Z4 ZN672_HUMAN zinc finger protein 672 232 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(2)|kidney(2)|large_intestine(1) 5 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.19) OV - Ovarian serous cystadenocarcinoma(106;0.00805) GCCCGGAGTGCGGCAAGGGCT 0.652 NA C||| 603 0.120407 0.0628 0.1239 5008 , , NA 14270 0.1915 NA 0.0388 False NA ,,, NA NA NA 2504 0.2065 NA NA NA NA 0 C 244,4142 3,238,1952 10 10 10 696 -7.9 0.1 1 dbSNP_129 10 306,8250 5,296,3977 no coding-synonymous ZNF672 NM_024836.1 8,534,5929 TT,TC,CC 3.5764,5.5632,4.2497 232/453 249142169 550,12392 2193 4278 6471 SO:0001819 synonymous_variant AK027476 CCDS1638.1 1q44 2013-01-08 ENSG00000171161 ENSG00000171161 79894 Zinc fingers, C2H2-type 26179 protein-coding gene gene with protein product hypothetical protein FLJ22301 NA 12477932 Standard NM_024836 NM_024836 NA Approved FLJ22301 uc001iex.3 Q499Z4 OTTHUMG00000040377 ENST00000306562.3:c.696C>T chr1.hg19:g.249142169C>T NA Q96H65|Q96IM3|Q9H6G5 hg19 CCDS1638.1 0.02 10.960223 GTGxGGC COVERED NOVEL ZNF672-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000097125.2 1 28.824273 KEEP 0 1 32 107 3645 CC 1 1 0 + 12 60 414 0 0 25.648125 281 60 9745 501 ENST00000306562.3 0.040956 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 249230943 249230943 __UNKNOWN__ IGR SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:249230943G>A NA NA PGBD2 (16798 upstream) : None (None downstream) NA NA NA CTGCGACTCCGGAGGCAGCCC 0.562 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.249230943G>A NA hg19 0.02 -0.324372 TCCxGAG UNCOVERED NOVEL 0 1 4.514658 KEEP 34 0 0 15 522 GG 0 0 0 8 26 275 0 0 23.761226 22 40 766 95 0.266667 0.835716 Unknown 0 __UNKNOWN__ __UNKNOWN__ 1 249230964 249230964 __UNKNOWN__ IGR SNP G G A rs538120334 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr1:249230964G>A NA NA PGBD2 (16819 upstream) : None (None downstream) NA NA NA AGATATCCTCGGAAGAGCACC 0.547 NA .||| 1 0.000199681 0.0 0.0 5008 , , NA 18894 0.0 NA 0.001 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr1.hg19:g.249230964G>A NA hg19 0.02 -0.289081 CTCxGAA UNCOVERED NOVEL 0 0 3.310664 KEEP 37 0 0 11 378 GG 0 0 0 8 26 297 0 0 26.107027 21 40 765 88 0.275862 0.760887 FAM110C 642273 __UNKNOWN__ __UNKNOWN__ 2 45611 45611 __UNKNOWN__ Missense_Mutation SNP C C T rs200415885 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:45611C>T ENST00000327669.4 - 1 774 c.775G>A c.(775-777)Ggc>Agc p.G259S NM_001077710.2 NP_001071178.2 Q1W6H9 F110C_HUMAN family with sequence similarity 110, member C 259 NA positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell projection assembly (GO:0060491) cell cortex (GO:0005938)|microtubule (GO:0005874)|nucleus (GO:0005634) alpha-tubulin binding (GO:0043014) central_nervous_system(1)|kidney(1)|lung(2) 4 all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.00221) all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232) CGGGAGAAGCCGCTGCCGGAG 0.697 NA C||| 41 0.0081869 0.0 0.0014 5008 , , NA 13846 0.0377 NA 0.0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 C SER/GLY 0,4146 0,0,2073 15 21 19 775 3.8 1 2 19 1,8405 0,1,4202 yes missense FAM110C NM_001077710.2 56 0,1,6275 TT,TC,CC 0.0119,0.0,0.0080 benign 259/322 45611 1,12551 2073 4203 6276 SO:0001583 missense DQ431183 CCDS42645.1 2p25.3 2011-12-01 ENSG00000184731 ENSG00000184731 642273 33340 protein-coding gene gene with protein product 611395 NA 17499476, 19698782 Standard NM_001077710 NM_001077710 NA Approved uc010yim.2 Q1W6H9 OTTHUMG00000151321 ENST00000327669.4:c.775G>A chr2.hg19:g.45611C>T ENSP00000328347:p.Gly259Ser NA hg19 CCDS42645.1 0.02 11.320661 AGCxGCT COVERED 23 0.010531135531135532 0 0.0 1 0.0027624309392265192 22 0.038461538461538464 0 0.0 C 14.59 2.581747 0.46006 0.0 1.19E-4 ENSG00000184731 ENST00000327669 T 0.39056 1.1 4.64 3.76 0.43208 . 0.108236 0.64402 N 0.000008 T 0.11537 0.0281 L 0.40543 1.245 0.25876 N 0.983644 D 0.63880 0.993 P 0.49922 0.626 T 0.04440 -1.0951 10 0.14656 T 0.56 -12.0676 10.4628 0.44590 0.0:0.9023:0.0:0.0977 . 259 Q1W6H9 F110C_HUMAN S 259 ENSP00000328347:G259S ENSP00000328347:G259S G - 1 0 FAM110C 35611 0.997000 0.39634 0.996000 0.52242 0.044000 0.14063 4.306000 0.59117 1.061000 0.40601 0.561000 0.74099 GGC NOVEL FAM110C-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322220.1 4 42.431663 KEEP 0 0 0 141 4810 CC 1 1 0 - 16 60 575 0 0 38.420407 271 60 9477 528 ENST00000327669.4 0.055749 1 SNTG2 54221 __UNKNOWN__ __UNKNOWN__ 2 1243447 1243447 __UNKNOWN__ Intron SNP A A G rs58094864 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:1243447A>G ENST00000308624.5 + 11 978 SNTG2_ENST00000407292.1_Intron NM_018968.3 NP_061841.2 Q9NY99 SNTG2_HUMAN syntrophin, gamma 2 NA NA central nervous system development (GO:0007417) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013) PDZ domain binding (GO:0030165) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) TCCAGCTGTCACTCAGGTGAG 0.512 NA A||| 1371 0.273762 0.4644 0.1571 5008 , , NA 18307 0.3105 NA 0.1054 False NA ,,, NA NA NA 2504 0.2342 NA NA NA NA 0 A 563,821 109,345,238 210 158 174 0.6 0 2 dbSNP_129 174 360,2822 23,314,1254 no intron SNTG2 NM_018968.3 132,659,1492 GG,GA,AA 11.3136,40.6792,20.2146 1243447 923,3643 692 1591 2283 SO:0001627 intron_variant AJ003029 CCDS46220.1 2p25 2008-05-23 ENSG00000172554 ENSG00000172554 54221 13741 protein-coding gene gene with protein product 608715 NA 10747910 Standard NM_018968 NM_018968 NA Approved SYN5, G2SYN uc002qwq.3 Q9NY99 OTTHUMG00000151370 ENST00000308624.5:c.850-63A>G chr2.hg19:g.1243447A>G NA Q05AH5 hg19 CCDS46220.1 0.02 6.055945 GTCxCTC COVERED NOVEL SNTG2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322454.1 0 3.910716 KEEP 0 0 0 13 397 AA 0.994391 0.994391 0 + 9 60 314 0 0 20.366239 163 60 5871 224 ENST00000308624.5 0.052326 1 SNTG2 54221 __UNKNOWN__ __UNKNOWN__ 2 1251088 1251088 __UNKNOWN__ Intron SNP C C T rs375675419|rs55953201 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:1251088C>T ENST00000308624.5 + 12 1017 SNTG2_ENST00000407292.1_Intron NM_018968.3 NP_061841.2 Q9NY99 SNTG2_HUMAN syntrophin, gamma 2 NA NA central nervous system development (GO:0007417) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013) PDZ domain binding (GO:0030165) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) GTAATTTTCACCCCTCTGCAG 0.498 NA NA NA NA NA NA NA NA NA NA NA 0 32 37 35 NA NA 2 NA 1251088 1972 4186 6158 SO:0001627 intron_variant AJ003029 CCDS46220.1 2p25 2008-05-23 ENSG00000172554 ENSG00000172554 54221 13741 protein-coding gene gene with protein product 608715 NA 10747910 Standard NM_018968 NM_018968 NA Approved SYN5, G2SYN uc002qwq.3 Q9NY99 OTTHUMG00000151370 ENST00000308624.5:c.889-11C>T chr2.hg19:g.1251088C>T NA Q05AH5 hg19 CCDS46220.1 0.02 1.52009 TCAxCCC COVERED NOVEL SNTG2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322454.1 0 2.407974 KEEP 0 0 0 8 294 CC 0.99257 0.992526 0 + 7 60 241 0 0 16.460556 92 60 3349 126 ENST00000308624.5 0.070707 0.999956 SNTG2 54221 __UNKNOWN__ __UNKNOWN__ 2 1271230 1271230 __UNKNOWN__ Missense_Mutation SNP A A G rs13023962 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:1271230A>G ENST00000308624.5 + 14 1300 c.1171A>G c.(1171-1173)Atc>Gtc p.I391V SNTG2_ENST00000407292.1_Missense_Mutation_p.I264V NM_018968.3 NP_061841.2 Q9NY99 SNTG2_HUMAN syntrophin, gamma 2 391 PH. NA I -> V (in dbSNP:rs13023962). central nervous system development (GO:0007417) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013) PDZ domain binding (GO:0030165) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) TTGCTTCAGCATCGTGGCCGG 0.517 NA G||| 1803 0.360024 0.5015 0.232 5008 , , NA 17276 0.3204 NA 0.2515 False NA ,,, NA NA NA 2504 0.4121 NA NA NA NA 0 G VAL/ILE 1707,2159 401,905,627 53 52 53 1171 1.7 0 2 dbSNP_121 53 1994,6276 238,1518,2379 yes missense SNTG2 NM_018968.3 29 639,2423,3006 GG,GA,AA 24.1112,44.1542,30.496 benign 391/540 1271230 3701,8435 1933 4135 6068 SO:0001583 missense AJ003029 CCDS46220.1 2p25 2008-05-23 ENSG00000172554 ENSG00000172554 54221 13741 protein-coding gene gene with protein product 608715 NA 10747910 Standard NM_018968 NM_018968 NA Approved SYN5, G2SYN uc002qwq.3 Q9NY99 OTTHUMG00000151370 ENST00000308624.5:c.1171A>G chr2.hg19:g.1271230A>G ENSP00000311837:p.Ile391Val NA Q05AH5 hg19 CCDS46220.1 0.02 4.844977 AGCxTCG COVERED 660 0.3021978021978022 217 0.4410569105691057 76 0.20994475138121546 177 0.3094405594405594 190 0.25065963060686014 G 0 -2.618827 0.00118 0.441542 0.241112 ENSG00000172554 ENST00000308624;ENST00000407292 T;T 0.68765 1.34;-0.35 4.61 1.67 0.24075 Pleckstrin homology domain (1); 0.208918 0.41097 N 0.000951 T 0.00012 0.0000 N 0.00387 -1.565 0.46774 P 8.010000000000517E-4 B;B 0.06786 0.001;0.0 B;B 0.06405 0.002;0.0 T 0.38308 -0.9667 9 0.02654 T 1 . 5.3079 0.15813 0.2331:0.2745:0.4924:0.0 rs13023962;rs60136596 264;391 Q9NY99-2;Q9NY99 .;SNTG2_HUMAN V 391;264 ENSP00000311837:I391V;ENSP00000385020:I264V ENSP00000311837:I391V I + 1 0 SNTG2 1253811 0.999000 0.42202 0.047000 0.18901 0.028000 0.11728 1.877000 0.39598 -0.223000 0.09943 -0.733000 0.03571 ATC NOVEL SNTG2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322454.1 0 6.904737 KEEP 0 0 0 23 694 AA 0.999892 0.999879 0 + 5 60 186 0 0 12.237794 101 60 3683 164 ENST00000308624.5 0.04717 0.999987 TPO 7173 __UNKNOWN__ __UNKNOWN__ 2 1437163 1437163 __UNKNOWN__ Intron SNP A A C rs1473936 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:1437163A>C ENST00000345913.4 + 4 270 TPO_ENST00000329066.4_Intron|TPO_ENST00000382269.3_Intron|TPO_ENST00000497517.2_Intron|TPO_ENST00000539820.1_Intron|TPO_ENST00000382198.1_Intron|TPO_ENST00000337415.3_Intron|TPO_ENST00000349624.3_Intron|TPO_ENST00000346956.3_Intron|TPO_ENST00000382201.3_Intron NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase NA NA cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590) extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601) breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550) AGTACCAAAGATACCATAGAC 0.368 NA C||| 1999 0.399161 0.5113 0.3746 5008 , , NA 19281 0.2708 NA 0.2515 False NA ,,, NA NA NA 2504 0.5491 NA NA NA NA 0 C ,,,,, 2080,2326 561.8+/-380.8 513,1054,636 35 37 36 ,,,,, 1.5 0 2 dbSNP_88 36 2038,6562 708.0+/-405.6 259,1520,2521 no intron,intron,intron,intron,intron,intron TPO NM_000547.5,NM_001206744.1,NM_001206745.1,NM_175719.3,NM_175721.3,NM_175722.3 ,,,,, 772,2574,3157 CC,CA,AA 23.6977,47.2084,31.6623 ,,,,, ,,,,, 1437163 4118,8888 2203 4300 6503 SO:0001627 intron_variant CCDS1643.1, CCDS1644.1, CCDS1646.1 2p25 2008-02-05 ENSG00000115705 ENSG00000115705 7173 1.11.1.7 12015 protein-coding gene gene with protein product 606765 NA Standard NM_000547 NM_175722 NA Approved TPX uc002qww.3 P07202 OTTHUMG00000090271 ENST00000345913.4:c.180-47A>C chr2.hg19:g.1437163A>C NA P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9 hg19 CCDS1643.1 0.02 3.89509 AAGxTAC COVERED NOVEL TPO-202 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000206594.2 1 6.017941 KEEP 0 0 0 20 649 AA 0.999863 0.999863 0 + 9 60 321 0 0 21.751617 136 60 4895 178 ENST00000345913.4 0.062069 1 TPO 7173 __UNKNOWN__ __UNKNOWN__ 2 1442476 1442476 __UNKNOWN__ Intron SNP T T C rs1969248 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:1442476T>C ENST00000345913.4 + 5 573 TPO_ENST00000349624.3_Intron|TPO_ENST00000382201.3_Intron|TPO_ENST00000382198.1_Intron|TPO_ENST00000382269.3_Intron|TPO_ENST00000329066.4_Intron|TPO_ENST00000539820.1_Intron|TPO_ENST00000497517.2_Intron|TPO_ENST00000346956.3_Intron|TPO_ENST00000337415.3_Intron NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase NA NA cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590) extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601) breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550) ggggaatccctgagcaaagcc 0.428 NA T||| 1929 0.385184 0.4675 0.3746 5008 , , NA 11452 0.2649 NA 0.2475 False NA ,,, NA NA NA 2504 0.547 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS1643.1, CCDS1644.1, CCDS1646.1 2p25 2008-02-05 ENSG00000115705 ENSG00000115705 7173 1.11.1.7 12015 protein-coding gene gene with protein product 606765 NA Standard NM_000547 NM_175722 NA Approved TPX uc002qww.3 P07202 OTTHUMG00000090271 ENST00000345913.4:c.482+2320T>C chr2.hg19:g.1442476T>C NA P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9 hg19 CCDS1643.1 0.02 6.587765 CCCxGAG COVERED NOVEL TPO-202 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000206594.2 1 3.009225 KEEP 0 0 0 10 318 TT 0.992708 0.992708 0 + 14 60 498 0 0 34.747183 177 60 6552 225 ENST00000345913.4 0.073298 1 TPO 7173 __UNKNOWN__ __UNKNOWN__ 2 1443068 1443068 __UNKNOWN__ Intron SNP A A G rs11896057 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:1443068A>G ENST00000345913.4 + 5 573 TPO_ENST00000349624.3_Intron|TPO_ENST00000382201.3_Intron|TPO_ENST00000382198.1_Intron|TPO_ENST00000382269.3_3'UTR|TPO_ENST00000329066.4_Intron|TPO_ENST00000539820.1_3'UTR|TPO_ENST00000497517.2_Intron|TPO_ENST00000346956.3_Intron|TPO_ENST00000337415.3_Intron NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase NA NA cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590) extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601) breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550) CTTCTGTGGTAACAGCTACAG 0.443 NA G||| 1947 0.388778 0.4803 0.3746 5008 , , NA 17530 0.2649 NA 0.2475 False NA ,,, NA NA NA 2504 0.5481 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS1643.1, CCDS1644.1, CCDS1646.1 2p25 2008-02-05 ENSG00000115705 ENSG00000115705 7173 1.11.1.7 12015 protein-coding gene gene with protein product 606765 NA Standard NM_000547 NM_175722 NA Approved TPX uc002qww.3 P07202 OTTHUMG00000090271 ENST00000345913.4:c.482+2912A>G chr2.hg19:g.1443068A>G NA P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9 hg19 CCDS1643.1 0.02 11.015055 GGTxACA COVERED NOVEL TPO-202 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000206594.2 1 6.918014 KEEP 0 0 0 23 665 AA 0.999892 0.999892 0 + 10 60 359 0 0 22.193603 255 60 8972 339 ENST00000345913.4 0.037736 1 TPO 7173 __UNKNOWN__ __UNKNOWN__ 2 1460004 1460004 __UNKNOWN__ Missense_Mutation SNP G G T rs4927611 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:1460004G>T ENST00000345913.4 + 7 860 c.769G>T c.(769-771)Gct>Tct p.A257S TPO_ENST00000349624.3_Missense_Mutation_p.A257S|TPO_ENST00000382201.3_Missense_Mutation_p.A257S|TPO_ENST00000382198.1_Missense_Mutation_p.A257S|TPO_ENST00000329066.4_Missense_Mutation_p.A257S|TPO_ENST00000497517.2_Intron|TPO_ENST00000346956.3_Missense_Mutation_p.A257S|TPO_ENST00000337415.3_Missense_Mutation_p.A257S NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 257 NA A -> S (in dbSNP:rs4927611). {ECO:0000269|PubMed:7550241, ECO:0000269|Ref.5, ECO:0000269|Ref.6}. cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590) extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601) breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550) CGGGGGAGGGGCTGACTGCCA 0.468 NA G||| 1830 0.365415 0.3918 0.3674 5008 , , NA 20988 0.1825 NA 0.3668 False NA ,,, NA NA NA 2504 0.5153 NA NA NA NA 0 G SER/ALA,SER/ALA,SER/ALA,SER/ALA,SER/ALA,SER/ALA 1657,2749 501.8+/-365.1 312,1033,858 82 73 76 769,769,769,769,769,769 0.5 0 2 dbSNP_111 76 3302,5298 493.1+/-373.5 620,2062,1618 yes missense,missense,missense,missense,missense,missense TPO NM_000547.5,NM_001206744.1,NM_001206745.1,NM_175719.3,NM_175721.3,NM_175722.3 99,99,99,99,99,99 932,3095,2476 TT,TG,GG 38.3953,37.6078,38.1286 benign,benign,benign,benign,benign,benign 257/934,257/934,257/877,257/877,257/890,257/761 1460004 4959,8047 2203 4300 6503 SO:0001583 missense CCDS1643.1, CCDS1644.1, CCDS1646.1 2p25 2008-02-05 ENSG00000115705 ENSG00000115705 7173 1.11.1.7 12015 protein-coding gene gene with protein product 606765 NA Standard NM_000547 NM_175722 NA Approved TPX uc002qww.3 P07202 OTTHUMG00000090271 ENST00000345913.4:c.769G>T chr2.hg19:g.1460004G>T ENSP00000318820:p.Ala257Ser NA P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9 hg19 CCDS1643.1 0.02 5.613873 GGGxCTG COVERED 718 0.32875457875457875 203 0.41260162601626016 133 0.3674033149171271 104 0.18181818181818182 278 0.36675461741424803 G 6.803 0.517173 0.13005 0.376078 0.383953 ENSG00000115705 ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464 T;T;T;T;T;T;T;T 0.73152 -0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72 4.81 0.493 0.16878 . 1.146100 0.06111 N 0.667134 T 0.00012 0.0000 L 0.39467 1.215 0.80722 P 0.0 P;P;B;B 0.40398 0.716;0.617;0.045;0.056 B;B;B;B 0.43082 0.407;0.173;0.026;0.065 T 0.17531 -1.0366 9 0.51188 T 0.08 -4.4593 9.7845 0.40668 0.4302:0.0:0.5698:0.0 rs4927611;rs52835610;rs57959348;rs4927611 257;257;257;257 P07202-4;P07202-5;P07202-2;P07202 .;.;.;PERT_HUMAN S 257;257;257;257;257;257;257;186 ENSP00000337263:A257S;ENSP00000318820:A257S;ENSP00000263886:A257S;ENSP00000332044:A257S;ENSP00000329869:A257S;ENSP00000371636:A257S;ENSP00000371633:A257S;ENSP00000405788:A186S ENSP00000329869:A257S A + 1 0 TPO 1439011 0.001000 0.12720 0.000000 0.03702 0.072000 0.16883 1.055000 0.30467 0.121000 0.18284 0.563000 0.77884 GCT NOVEL TPO-202 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000206594.2 0 16.553503 KEEP 0 0 0 55 1947 GG 1 1 0 + 6 60 206 0 0 12.094004 171 60 6223 284 ENST00000345913.4 0.033898 1 TPO 7173 __UNKNOWN__ __UNKNOWN__ 2 1480734 1480734 __UNKNOWN__ Intron SNP A A G rs115298811 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:1480734A>G ENST00000345913.4 + 8 910 TPO_ENST00000349624.3_Intron|TPO_ENST00000382201.3_Intron|TPO_ENST00000382198.1_Intron|TPO_ENST00000329066.4_Intron|TPO_ENST00000497517.2_Intron|TPO_ENST00000346956.3_Intron|TPO_ENST00000337415.3_Intron NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase NA NA cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590) extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601) breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550) ACTGACCCCTACAGAGGACTG 0.682 NA G||| 346 0.0690895 0.0318 0.0216 5008 , , NA 12106 0.1131 NA 0.0557 False NA ,,, NA NA NA 2504 0.1217 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS1643.1, CCDS1644.1, CCDS1646.1 2p25 2008-02-05 ENSG00000115705 ENSG00000115705 7173 1.11.1.7 12015 protein-coding gene gene with protein product 606765 NA Standard NM_000547 NM_175722 NA Approved TPX uc002qww.3 P07202 OTTHUMG00000090271 ENST00000345913.4:c.820-124A>G chr2.hg19:g.1480734A>G NA P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9 hg19 CCDS1643.1 0.02 3.973796 CCTxCAG COVERED NOVEL TPO-202 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000206594.2 0 6.615246 KEEP 0 0 0 22 606 AA 0.999879 0.999879 0 + 5 60 182 0 0 11.093879 144 60 4183 195 ENST00000345913.4 0.033557 1 PXDN 7837 __UNKNOWN__ __UNKNOWN__ 2 1667267 1667267 __UNKNOWN__ Intron SNP C C G rs2241455 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:1667267C>G ENST00000252804.4 - 12 1618 NM_012293.1 NP_036425.1 Q92626 PXDN_HUMAN peroxidasin homolog (Drosophila) NA NA extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114) endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578) extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601) breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 112 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) GCAGAGAGAACAGCCAACGCT 0.453 NA G||| 2065 0.41234 0.5893 0.4452 5008 , , NA 20535 0.3353 NA 0.2694 False NA ,,, NA NA NA 2504 0.3763 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF200348 CCDS46221.1 2p25.3 2013-01-11 ENSG00000130508 ENSG00000130508 7837 Immunoglobulin superfamily / I-set domain containing 14966 protein-coding gene gene with protein product 605158 NA 10441517, 9039502 Standard XM_056455 XM_005264707 NA Approved KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN uc002qxa.3 Q92626 OTTHUMG00000059697 ENST00000252804.4:c.1567+109G>C chr2.hg19:g.1667267C>G NA A8QM65|D6W4Y0|Q4KMG2 hg19 CCDS46221.1 0.02 4.384652 GAAxAGC COVERED NOVEL PXDN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322505.1 0 3.310726 KEEP 0 0 0 11 386 CC 0.993072 0.993069 0 - 5 60 188 0 0 12.296013 108 60 3969 134 ENST00000252804.4 0.044248 0.999997 MYT1L 23040 __UNKNOWN__ __UNKNOWN__ 2 1946646 1946646 __UNKNOWN__ Intron SNP A A C rs7355555 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:1946646A>C ENST00000428368.2 - 9 1175 MYT1L_ENST00000399161.2_Intron Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like NA NA cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) ATTGACCAAGAAGAACAATTT 0.343 NA C||| 2169 0.433107 0.441 0.3127 5008 , , NA 19336 0.6448 NA 0.3569 False NA ,,, NA NA NA 2504 0.3681 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF036943 CCDS46222.1 2p25.3 2013-01-10 ENSG00000186487 ENSG00000186487 23040 Zinc fingers, C2HC-type containing 7623 protein-coding gene gene with protein product neural zinc finger transcription factor 1 613084 NA 9373037 Standard NM_015025 XM_006711862 NA Approved KIAA1106, NZF1, ZC2HC4B uc002qxd.3 Q9UL68 OTTHUMG00000151407 ENST00000428368.2:c.505+107T>G chr2.hg19:g.1946646A>C NA A7E2C7|B2RP54|Q6IQ17|Q9UPP6 hg19 CCDS46222.1 0.02 13.891317 AAGxAGA COVERED NOVEL MYT1L-013 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000377210.1 1 4.349248 KEEP 0 1 36 27 882 AA 0.999997 0.999997 0 - 15 60 547 0 0 35.351407 331 60 12090 462 ENST00000428368.2 0.043353 1 MYT1L 23040 __UNKNOWN__ __UNKNOWN__ 2 1946914 1946914 __UNKNOWN__ Silent SNP A A G rs3748988 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:1946914A>G ENST00000428368.2 - 9 1014 c.345T>C c.(343-345)gaT>gaC p.D115D MYT1L_ENST00000399161.2_Silent_p.D115D Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 0 Asp/Glu-rich. NA cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) ccCCTGGCTCATCATTGTCCT 0.587 NA a||| 2558 0.510783 0.7133 0.3329 5008 , , NA 14735 0.6448 NA 0.3708 False NA ,,, NA NA NA 2504 0.3691 NA NA NA NA 0 G 2509,1653 799,911,371 105 104 104 345 -10.7 0 2 dbSNP_107 104 2745,5453 547,1651,1901 no coding-synonymous MYT1L NM_015025.2 1346,2562,2272 GG,GA,AA 33.4838,39.7165,42.5081 115/1185 1946914 5254,7106 2081 4099 6180 SO:0001819 synonymous_variant AF036943 CCDS46222.1 2p25.3 2013-01-10 ENSG00000186487 ENSG00000186487 23040 Zinc fingers, C2HC-type containing 7623 protein-coding gene gene with protein product neural zinc finger transcription factor 1 613084 NA 9373037 Standard NM_015025 XM_006711862 NA Approved KIAA1106, NZF1, ZC2HC4B uc002qxd.3 Q9UL68 OTTHUMG00000151407 ENST00000428368.2:c.345T>C chr2.hg19:g.1946914A>G NA A7E2C7|B2RP54|Q6IQ17|Q9UPP6 hg19 CCDS46222.1 0.02 7.790942 CTCxTCA COVERED NOVEL MYT1L-013 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000377210.1 3 7.221187 KEEP 0 0 0 24 738 AA 0.999909 0.999909 0 - 10 60 300 0 0 17.304937 214 60 7460 304 ENST00000428368.2 0.044643 1 MYT1L 23040 __UNKNOWN__ __UNKNOWN__ 2 1946968 1946968 __UNKNOWN__ Silent SNP C C T rs3748989 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:1946968C>T ENST00000428368.2 - 9 960 c.291G>A c.(289-291)gaG>gaA p.E97E MYT1L_ENST00000399161.2_Silent_p.E97E Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 0 Asp/Glu-rich. NA cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) catccatgtcctcAGTCCCAT 0.567 NA C||| 829 0.165535 0.1437 0.1081 5008 , , NA 17458 0.3442 NA 0.0944 False NA ,,, NA NA NA 2504 0.1247 NA NA NA NA 0 C 518,3730 31,456,1637 103 103 103 291 -3.1 0.2 2 dbSNP_107 103 683,7683 28,627,3528 no coding-synonymous MYT1L NM_015025.2 59,1083,5165 TT,TC,CC 8.164,12.194,9.5212 97/1185 1946968 1201,11413 2124 4183 6307 SO:0001819 synonymous_variant AF036943 CCDS46222.1 2p25.3 2013-01-10 ENSG00000186487 ENSG00000186487 23040 Zinc fingers, C2HC-type containing 7623 protein-coding gene gene with protein product neural zinc finger transcription factor 1 613084 NA 9373037 Standard NM_015025 XM_006711862 NA Approved KIAA1106, NZF1, ZC2HC4B uc002qxd.3 Q9UL68 OTTHUMG00000151407 ENST00000428368.2:c.291G>A chr2.hg19:g.1946968C>T NA A7E2C7|B2RP54|Q6IQ17|Q9UPP6 hg19 CCDS46222.1 0.02 13.780179 GTCxTCA COVERED NOVEL MYT1L-013 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000377210.1 3 11.437367 KEEP 0 0 0 38 1355 CC 1 1 0 - 14 60 534 0 0 35.253001 299 60 11266 456 ENST00000428368.2 0.044728 1 MYT1L 23040 __UNKNOWN__ __UNKNOWN__ 2 1982877 1982877 __UNKNOWN__ Intron SNP T T G rs2304007 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:1982877T>G ENST00000428368.2 - 8 822 MYT1L_ENST00000399161.2_Intron Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like NA NA cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) TCATCAGGACTGGGTCCCCAA 0.423 NA T||| 1201 0.239816 0.3101 0.1455 5008 , , NA 22256 0.3403 NA 0.167 False NA ,,, NA NA NA 2504 0.183 NA NA NA NA 0 T 442,942 77,288,327 51 49 49 -4.8 0 2 dbSNP_100 49 562,2620 42,478,1071 no intron MYT1L NM_015025.2 119,766,1398 GG,GT,TT 17.6618,31.9364,21.9886 1982877 1004,3562 692 1591 2283 SO:0001627 intron_variant AF036943 CCDS46222.1 2p25.3 2013-01-10 ENSG00000186487 ENSG00000186487 23040 Zinc fingers, C2HC-type containing 7623 protein-coding gene gene with protein product neural zinc finger transcription factor 1 613084 NA 9373037 Standard NM_015025 XM_006711862 NA Approved KIAA1106, NZF1, ZC2HC4B uc002qxd.3 Q9UL68 OTTHUMG00000151407 ENST00000428368.2:c.152+59A>C chr2.hg19:g.1982877T>G NA A7E2C7|B2RP54|Q6IQ17|Q9UPP6 hg19 CCDS46222.1 0.02 3.892318 GACxGGG COVERED NOVEL MYT1L-013 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000377210.1 1 6.920614 KEEP 0 0 0 23 712 TT 0.999892 0.999892 0 - 5 60 173 0 0 10.405177 130 60 4856 190 ENST00000428368.2 0.037037 1 MYT1L 23040 __UNKNOWN__ __UNKNOWN__ 2 1983395 1983395 __UNKNOWN__ Intron SNP C C T rs2304009 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:1983395C>T ENST00000428368.2 - 7 725 MYT1L_ENST00000399161.2_Intron Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like NA NA cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) CAGAAAATTACCAAAAGGGTG 0.507 NA C||| 853 0.170327 0.0976 0.1239 5008 , , NA 17476 0.3393 NA 0.1531 False NA ,,, NA NA NA 2504 0.1452 NA NA NA NA 0 C 187,1197 8,171,513 57 63 61 2.4 0 2 dbSNP_100 61 519,2663 33,453,1105 no intron MYT1L NM_015025.2 41,624,1618 TT,TC,CC 16.3105,13.5116,15.4621 1983395 706,3860 692 1591 2283 SO:0001627 intron_variant AF036943 CCDS46222.1 2p25.3 2013-01-10 ENSG00000186487 ENSG00000186487 23040 Zinc fingers, C2HC-type containing 7623 protein-coding gene gene with protein product neural zinc finger transcription factor 1 613084 NA 9373037 Standard NM_015025 XM_006711862 NA Approved KIAA1106, NZF1, ZC2HC4B uc002qxd.3 Q9UL68 OTTHUMG00000151407 ENST00000428368.2:c.56-69G>A chr2.hg19:g.1983395C>T NA A7E2C7|B2RP54|Q6IQ17|Q9UPP6 hg19 CCDS46222.1 0.02 8.201697 TTAxCAA COVERED NOVEL MYT1L-013 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000377210.1 2 5.718522 KEEP 0 0 0 19 678 CC 0.99986 0.99986 0 - 8 60 291 0 0 18.146405 203 60 7467 266 ENST00000428368.2 0.037915 1 MYT1L 23040 __UNKNOWN__ __UNKNOWN__ 2 2299321 2299321 __UNKNOWN__ Intron SNP G G T rs12472469 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:2299321G>T ENST00000428368.2 - 2 150 MYT1L_ENST00000399161.2_Intron Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like NA NA cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) gagagagagagagagagacag 0.507 NA g||| 3940 0.786741 0.6823 0.7205 5008 , , NA 29801 0.7976 NA 0.9652 False NA ,,, NA NA NA 2504 0.7802 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF036943 CCDS46222.1 2p25.3 2013-01-10 ENSG00000186487 ENSG00000186487 23040 Zinc fingers, C2HC-type containing 7623 protein-coding gene gene with protein product neural zinc finger transcription factor 1 613084 NA 9373037 Standard NM_015025 XM_006711862 NA Approved KIAA1106, NZF1, ZC2HC4B uc002qxd.3 Q9UL68 OTTHUMG00000151407 ENST00000428368.2:c.521-11046C>A chr2.hg19:g.2299321G>T NA A7E2C7|B2RP54|Q6IQ17|Q9UPP6 hg19 CCDS46222.1 0.02 2.241313 AGAxAGA COVERED NOVEL MYT1L-013 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000377210.1 27 8.426763 KEEP 14 0 0 28 955 GG 0.999879 0.963657 0 - 3 60 82 0 0 8.544714 1 60 37 105 ENST00000428368.2 0.75 0.963774 TSSC1 7260 __UNKNOWN__ __UNKNOWN__ 2 3212105 3212105 __UNKNOWN__ 3'UTR SNP A A G rs4854138 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:3212105A>G ENST00000443925.2 - 0 1240 TSSC1_ENST00000398659.4_Intron|TSSC1_ENST00000382125.4_Intron|TSSC1_ENST00000478754.1_Intron Q53HC9 TSSC1_HUMAN tumor suppressing subtransferable candidate 1 NA NA breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1) 18 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) all_cancers(51;0.212) OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464) GGCAGGAGCCACCGTGAGCAC 0.517 NA G||| 4497 0.897963 0.8578 0.9179 5008 , , NA 16109 0.9573 NA 0.8787 False NA ,,, NA NA NA 2504 0.8967 NA NA NA Colon(140;1261 1762 4183 34270 49743) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF019952 CCDS1651.1 2p25.3 2013-01-10 ENSG00000032389 ENSG00000032389 7260 WD repeat domain containing 12383 protein-coding gene gene with protein product 608998 NA 9403053, 9925925 Standard NM_003310 NM_003310 NA Approved uc002qxj.2 Q53HC9 OTTHUMG00000090329 ENST00000443925.2:c.*195T>C chr2.hg19:g.3212105A>G NA D6W4Y1|O43179|Q53S19|Q53SG2 hg19 0.02 6.837432 GCCxCCG COVERED NOVEL TSSC1-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000322630.1 0 7.221555 KEEP 0 0 0 24 745 AA 0.999909 0.999909 0 - 12 60 424 0 0 29.174599 162 60 5670 218 ENST00000443925.2 0.068966 1 TSSC1 7260 __UNKNOWN__ __UNKNOWN__ 2 3322777 3322777 __UNKNOWN__ Intron SNP C C T rs142896750 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:3322777C>T ENST00000398659.4 - 3 400 TSSC1_ENST00000443925.2_Intron|TSSC1_ENST00000382125.4_Intron|TSSC1_ENST00000478754.1_Intron Q53HC9 TSSC1_HUMAN tumor suppressing subtransferable candidate 1 NA NA breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1) 18 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) all_cancers(51;0.212) OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464) ACCCCAGCAACAAAATAGTTG 0.368 NA C||| 37 0.00738818 0.0 0.0 5008 , , NA 21598 0.0347 NA 0.0 False NA ,,, NA NA NA 2504 0.002 NA NA NA Colon(140;1261 1762 4183 34270 49743) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF019952 CCDS1651.1 2p25.3 2013-01-10 ENSG00000032389 ENSG00000032389 7260 WD repeat domain containing 12383 protein-coding gene gene with protein product 608998 NA 9403053, 9925925 Standard NM_003310 NM_003310 NA Approved uc002qxj.2 Q53HC9 OTTHUMG00000090329 ENST00000398659.4:c.259+19010G>A chr2.hg19:g.3322777C>T NA D6W4Y1|O43179|Q53S19|Q53SG2 hg19 0.02 7.680045 CAAxAAA COVERED NOVEL TSSC1-003 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000322629.1 1 11.73072 KEEP 0 0 0 39 1369 CC 1 1 0 - 7 60 248 0 0 14.606692 218 60 8358 329 ENST00000398659.4 0.031111 1 ADI1 55256 __UNKNOWN__ __UNKNOWN__ 2 3501815 3501815 __UNKNOWN__ 3'UTR SNP C C T rs183828285 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:3501815C>T ENST00000327435.6 - 0 1707 NM_018269.3 NP_060739.2 acireductone dioxygenase 1 NA NA breast(2)|large_intestine(2)|lung(4)|ovary(1)|stomach(1) 10 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) OV - Ovarian serous cystadenocarcinoma(76;0.0729)|Epithelial(75;0.173)|all cancers(51;0.228) ACAGAGTTTACTTAAACATTT 0.373 NA C||| 12 0.00239617 0.0 0.0 5008 , , NA 16278 0.0119 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS1653.1 2p25.2 2013-05-29 ENSG00000182551 ENSG00000182551 55256 1.13.11.54 30576 protein-coding gene gene with protein product membrane-type 1 matrix metalloproteinase cytoplasmic tail binding protein-1 613400 NA 14718544, 15938715 Standard NM_018269 NM_018269 NA Approved SIPL, MTCBP-1, ARD, APL1, FLJ10913, HMFT1638, mtnD uc002qxp.4 Q9BV57 OTTHUMG00000112441 ENST00000327435.6:c.*919G>A chr2.hg19:g.3501815C>T NA hg19 CCDS1653.1 0.02 4.285519 TTAxTTA COVERED NOVEL ADI1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000231914.6 0 12.340105 KEEP 0 0 0 41 1467 CC 1 1 0 - 5 60 191 0 0 12.028229 141 60 5310 224 ENST00000327435.6 0.034247 1 ADI1 55256 __UNKNOWN__ __UNKNOWN__ 2 3519616 3519616 __UNKNOWN__ Intron SNP A A G rs13012176 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:3519616A>G ENST00000327435.6 - 2 369 ADI1_ENST00000382093.5_5'UTR NM_018269.3 NP_060739.2 acireductone dioxygenase 1 NA NA breast(2)|large_intestine(2)|lung(4)|ovary(1)|stomach(1) 10 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) OV - Ovarian serous cystadenocarcinoma(76;0.0729)|Epithelial(75;0.173)|all cancers(51;0.228) cagctggccgacacttatgga 0.453 NA A||| 2222 0.44369 0.0893 0.5605 5008 , , NA 17944 0.5377 NA 0.6064 False NA ,,, NA NA NA 2504 0.5757 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS1653.1 2p25.2 2013-05-29 ENSG00000182551 ENSG00000182551 55256 1.13.11.54 30576 protein-coding gene gene with protein product membrane-type 1 matrix metalloproteinase cytoplasmic tail binding protein-1 613400 NA 14718544, 15938715 Standard NM_018269 NM_018269 NA Approved SIPL, MTCBP-1, ARD, APL1, FLJ10913, HMFT1638, mtnD uc002qxp.4 Q9BV57 OTTHUMG00000112441 ENST00000327435.6:c.121-1869T>C chr2.hg19:g.3519616A>G NA hg19 CCDS1653.1 0.02 -0.307037 CCGxCAC COVERED NOVEL ADI1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000231914.6 0 2.372502 KEEP 0 0 0 8 222 AA 0.99257 0.7943 0 - 3 60 109 0 0 7.886174 32 60 1126 47 ENST00000327435.6 0.085714 0.800245 ADI1 55256 __UNKNOWN__ __UNKNOWN__ 2 3523324 3523324 __UNKNOWN__ 5'UTR SNP A A G rs10179340 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:3523324A>G ENST00000327435.6 - 0 183 AC142528.1_ENST00000450917.1_RNA NM_018269.3 NP_060739.2 acireductone dioxygenase 1 NA NA breast(2)|large_intestine(2)|lung(4)|ovary(1)|stomach(1) 10 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) OV - Ovarian serous cystadenocarcinoma(76;0.0729)|Epithelial(75;0.173)|all cancers(51;0.228) GCCGCGCTTTATCTTATAGGG 0.711 NA g||| 3733 0.745407 0.5855 0.7305 5008 , , NA 12613 0.8175 NA 0.841 False NA ,,, NA NA NA 2504 0.7996 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant CCDS1653.1 2p25.2 2013-05-29 ENSG00000182551 ENSG00000182551 55256 1.13.11.54 30576 protein-coding gene gene with protein product membrane-type 1 matrix metalloproteinase cytoplasmic tail binding protein-1 613400 NA 14718544, 15938715 Standard NM_018269 NM_018269 NA Approved SIPL, MTCBP-1, ARD, APL1, FLJ10913, HMFT1638, mtnD uc002qxp.4 Q9BV57 OTTHUMG00000112441 ENST00000327435.6:c.-66T>C chr2.hg19:g.3523324A>G NA hg19 CCDS1653.1 0.02 4.329774 TTTxTCT COVERED NOVEL ADI1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000231914.6 2 23.68798 KEEP 0 1 38 92 2702 AA 1 1 0 - 9 60 338 0 0 23.562114 132 60 4565 281 ENST00000327435.6 0.06383 1 RPS7 6201 __UNKNOWN__ __UNKNOWN__ 2 3624303 3624303 __UNKNOWN__ Intron SNP G G A rs80103345 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:3624303G>A ENST00000304921.5 + 4 455 RPS7_ENST00000403564.1_Intron|RPS7_ENST00000407445.3_Intron|RPS7_ENST00000406376.1_Intron NM_001011.3 NP_001002.1 P62081 RS7_HUMAN ribosomal protein S7 NA NA cellular protein metabolic process (GO:0044267)|cytoplasmic translation (GO:0002181)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083) 90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ribosome (GO:0005840)|small-subunit processome (GO:0032040) poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735) endometrium(1)|lung(2)|urinary_tract(1) 4 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) OV - Ovarian serous cystadenocarcinoma(76;0.0963)|Epithelial(75;0.208) GGTAGTTGGAGTCATGAAAAC 0.438 NA G||| 286 0.0571086 0.0113 0.036 5008 , , NA 17874 0.0575 NA 0.0636 False NA ,,, NA NA NA 2504 0.1268 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS1648.1 2p25 2011-04-05 ENSG00000171863 ENSG00000171863 6201 S ribosomal proteins 10440 protein-coding gene gene with protein product 603658 NA 8522193, 10625621 Standard NM_001011 NM_001011 NA Approved S7 uc002qxw.3 P62081 OTTHUMG00000090305 ENST00000304921.5:c.291+83G>A chr2.hg19:g.3624303G>A NA P23821|P24818|Q57Z92|Q6IPH1 hg19 CCDS1648.1 0.02 14.638974 GGAxTCA COVERED NOVEL RPS7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000206667.1 7 48.456705 KEEP 0 0 0 161 5699 GG 1 1 0 + 14 60 507 0 0 31.275451 371 60 13839 651 ENST00000304921.5 0.036364 1 ALLC 55821 __UNKNOWN__ __UNKNOWN__ 2 3708472 3708472 __UNKNOWN__ Intron SNP A A T rs567586203 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:3708472A>T ENST00000252505.3 + 1 100 NM_018436.3 NP_060906.3 Q8N6M5 ALLC_HUMAN allantoicase NA NA allantoin catabolic process (GO:0000256) allantoicase activity (GO:0004037) breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 30 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088) all_cancers(51;0.24) OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206) ggtgatcggaatgagtcaggg 0.458 NA HNSCC(21;0.051) NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF215924 CCDS46223.1 2p25.3 2008-02-05 ENSG00000151360 ENSG00000151360 55821 17377 protein-coding gene gene with protein product 612396 NA 11054555 Standard NM_018436 NA Approved ALC uc010ewt.3 Q8N6M5 OTTHUMG00000151485 ENST00000252505.3:c.-63+2588A>T chr2.hg19:g.3708472A>T NA Q53T95|Q5RL81|Q96RE6|Q9NZA7 hg19 CCDS46223.1 0.02 -0.412335 GGAxTGA COVERED NOVEL ALLC-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322855.1 0 5.416636 KEEP 0 0 0 18 567 AA 0.999859 0.941609 0 + 3 60 107 0 0 7.316475 43 60 1558 87 ENST00000252505.3 0.065217 0.941741 ALLC 55821 __UNKNOWN__ __UNKNOWN__ 2 3726163 3726163 __UNKNOWN__ Intron SNP T T C rs2043080 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:3726163T>C ENST00000252505.3 + 4 334 NM_018436.3 NP_060906.3 Q8N6M5 ALLC_HUMAN allantoicase NA NA allantoin catabolic process (GO:0000256) allantoicase activity (GO:0004037) breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 30 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088) all_cancers(51;0.24) OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206) CAACGGTTCGTTCATCGAAGT 0.498 NA HNSCC(21;0.051) C||| 2263 0.451877 0.7035 0.3112 5008 , , NA 20752 0.375 NA 0.4751 False NA ,,, NA NA NA 2504 0.2669 NA NA NA NA 0 C 2640,1248 893,854,197 71 71 71 -5.3 0 2 dbSNP_94 71 4025,4281 988,2049,1116 no intron ALLC NM_018436.3 1881,2903,1313 CC,CT,TT 48.4589,32.0988,45.342 3726163 6665,5529 1944 4153 6097 SO:0001627 intron_variant AF215924 CCDS46223.1 2p25.3 2008-02-05 ENSG00000151360 ENSG00000151360 55821 17377 protein-coding gene gene with protein product 612396 NA 11054555 Standard NM_018436 NA Approved ALC uc010ewt.3 Q8N6M5 OTTHUMG00000151485 ENST00000252505.3:c.172+18T>C chr2.hg19:g.3726163T>C NA Q53T95|Q5RL81|Q96RE6|Q9NZA7 hg19 CCDS46223.1 0.02 4.795773 TCGxTCA COVERED NOVEL ALLC-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322855.1 0 2.708262 KEEP 0 0 0 9 285 TT 0.99254 0.992539 0 + 11 60 431 0 0 32.259986 112 60 3971 160 ENST00000252505.3 0.089431 0.999999 ALLC 55821 __UNKNOWN__ __UNKNOWN__ 2 3749084 3749084 __UNKNOWN__ Intron SNP T T C rs11689171 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:3749084T>C ENST00000252505.3 + 11 1012 ALLC_ENST00000471711.1_Intron NM_018436.3 NP_060906.3 Q8N6M5 ALLC_HUMAN allantoicase NA NA allantoin catabolic process (GO:0000256) allantoicase activity (GO:0004037) breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 30 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088) all_cancers(51;0.24) OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206) AAAATCACGCTGTGTTTTGCT 0.448 NA HNSCC(21;0.051) T||| 1476 0.294728 0.3585 0.2233 5008 , , NA 19940 0.2411 NA 0.3748 False NA ,,, NA NA NA 2504 0.2321 NA NA NA NA 0 T 1328,2556 226,876,840 41 39 40 1.6 0 2 dbSNP_120 40 2860,5412 509,1842,1785 no intron ALLC NM_018436.3 735,2718,2625 CC,CT,TT 34.5745,34.1916,34.4521 3749084 4188,7968 1942 4136 6078 SO:0001627 intron_variant AF215924 CCDS46223.1 2p25.3 2008-02-05 ENSG00000151360 ENSG00000151360 55821 17377 protein-coding gene gene with protein product 612396 NA 11054555 Standard NM_018436 NA Approved ALC uc010ewt.3 Q8N6M5 OTTHUMG00000151485 ENST00000252505.3:c.851-18T>C chr2.hg19:g.3749084T>C NA Q53T95|Q5RL81|Q96RE6|Q9NZA7 hg19 CCDS46223.1 0.02 9.884793 CGCxGTG COVERED NOVEL ALLC-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322855.1 1 11.435136 KEEP 0 0 0 38 1222 TT 1 1 0 + 12 60 444 0 0 29.811888 212 60 8000 348 ENST00000252505.3 0.053571 1 DCDC2C 728597 __UNKNOWN__ __UNKNOWN__ 2 3774505 3774505 __UNKNOWN__ Intron SNP T T A rs150733327 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:3774505T>A ENST00000537457.1 + 2 82 A8MYV0 DCD2C_HUMAN doublecortin domain containing 2C NA NA intracellular signal transduction (GO:0035556) breast(1) 1 CTTTCTTATGTTTTAGGGCAG 0.498 NA T||| 8 0.00159744 0.0 0.0 5008 , , NA 15541 0.0079 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AC010907 CCDS74481.1 2p25.3 2010-09-24 2010-09-24 ENSG00000214866 ENSG00000214866 728597 32696 protein-coding gene gene with protein product doublecortin domain containing 2C pseudogene NA Standard XM_001715903 NM_001287444 NA Approved A8MYV0 OTTHUMG00000151490 ENST00000537457.1:c.83-88T>A chr2.hg19:g.3774505T>A NA hg19 0.02 6.589692 ATGxTTT COVERED NOVEL DCDC2C-002 KNOWN not_organism_supported|mRNA_end_NF|basic processed_transcript NA protein_coding OTTHUMT00000396777.1 1 7.821961 KEEP 0 0 0 26 775 TT 0.999957 0.999957 0 + 7 60 256 0 0 16.32684 160 60 5632 222 ENST00000537457.1 0.041916 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 6417963 6417963 __UNKNOWN__ IGR SNP G G A rs62109374 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:6417963G>A NA NA AC073479.1 (292938 upstream) : AC017053.1 (35122 downstream) NA NA NA AAGTTTggccgggcgctgtga 0.483 NA G||| 848 0.169329 0.118 0.245 5008 , , NA 15837 0.2966 NA 0.1213 False NA ,,, NA NA NA 2504 0.1033 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.6417963G>A NA hg19 0.02 11.910097 GCCxGGC COVERED NOVEL 0 4 5.251355 KEEP 0 1 33 29 994 GG 0.999997 0.999997 0 11 60 416 0 0 27.186163 243 60 8789 336 0.043307 1 CMPK2 129607 __UNKNOWN__ __UNKNOWN__ 2 6990033 6990033 __UNKNOWN__ Missense_Mutation SNP T T C rs6712141 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:6990033T>C ENST00000256722.5 - 5 1297 c.1298A>G c.(1297-1299)aAg>aGg p.K433R CMPK2_ENST00000458098.1_Intron|CMPK2_ENST00000478738.1_5'UTR NM_207315.3 NP_997198.2 Q5EBM0 CMPK2_HUMAN cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial 433 NA K -> R (in dbSNP:rs6712141). cellular response to lipopolysaccharide (GO:0071222)|dTDP biosynthetic process (GO:0006233)|dUDP biosynthetic process (GO:0006227)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142) mitochondrion (GO:0005739)|nucleus (GO:0005634) ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)|thymidylate kinase activity (GO:0004798)|UMP kinase activity (GO:0033862) large_intestine(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(1) 16 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) CTGCAGGACCTTTTCTCTGGA 0.483 NA T||| 167 0.0333466 0.0257 0.0231 5008 , , NA 18134 0.0823 NA 0.007 False NA ,,, NA NA NA 2504 0.0276 NA NA NA NA 0 T ARG/LYS 79,3729 1,77,1826 101 102 102 1298 0.3 0 2 dbSNP_116 102 45,8185 0,45,4070 yes missense CMPK2 NM_207315.2 26 1,122,5896 CC,CT,TT 0.5468,2.0746,1.0301 benign 433/450 6990033 124,11914 1904 4115 6019 SO:0001583 missense CCDS42648.1, CCDS58695.1, CCDS58696.1 2p25.2 2008-01-25 ENSG00000134326 ENSG00000134326 129607 2.7.4.14 27015 protein-coding gene gene with protein product cytidylate kinase 2 611787 NA 17999954 Standard NM_207315 NM_207315 NA Approved TYKi, UMP-CMPK2 uc002qyo.4 Q5EBM0 OTTHUMG00000151629 ENST00000256722.5:c.1298A>G chr2.hg19:g.6990033T>C ENSP00000256722:p.Lys433Arg NA A2RUB0|A5D8T2|B7ZM18|Q6ZRU2|Q96AL8 hg19 CCDS42648.1 0.02 13.41102 ACCxTTT COVERED 86 0.039377289377289376 17 0.034552845528455285 7 0.019337016574585635 57 0.09965034965034965 5 0.006596306068601583 T 10.47 1.359825 0.24598 0.020746 0.005468 ENSG00000134326 ENST00000256722 T 0.42900 0.96 5.69 0.351 0.16042 . 0.795454 0.12053 N 0.503937 T 0.00637 0.0021 L 0.29908 0.895 0.09310 N 1 B 0.17667 0.023 B 0.15870 0.014 T 0.10917 -1.0609 10 0.42905 T 0.14 -3.3414 2.2459 0.04031 0.1141:0.1301:0.2495:0.5063 rs6712141;rs58160473;rs6712141 433 Q5EBM0 CMPK2_HUMAN R 433 ENSP00000256722:K433R ENSP00000256722:K433R K - 2 0 CMPK2 6907484 0.262000 0.24073 0.041000 0.18516 0.756000 0.42949 1.122000 0.31295 -0.093000 0.12396 0.533000 0.62120 AAG NOVEL CMPK2-002 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000323339.2 1 12.63895 KEEP 0 0 0 42 1346 TT 1 1 0 - 13 60 485 0 0 31.080372 308 60 11397 444 ENST00000256722.5 0.040498 1 RNF144A 9781 __UNKNOWN__ __UNKNOWN__ 2 7181478 7181478 __UNKNOWN__ 3'UTR SNP C C T rs3732330 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:7181478C>T ENST00000320892.6 + 0 2908 NM_014746.3 NP_055561.2 P50876 R144A_HUMAN ring finger protein 144A NA NA protein ubiquitination (GO:0016567) Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) ligase activity (GO:0016874)|zinc ion binding (GO:0008270) breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1) 25 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) all_cancers(51;0.226) OV - Ovarian serous cystadenocarcinoma(76;0.195) ACATTGAATTCGTTAGAAAAA 0.373 NA C||| 1345 0.26857 0.1604 0.1182 5008 , , NA 16790 0.5526 NA 0.0895 False NA ,,, NA NA NA 2504 0.4131 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D79983 CCDS1657.1 2p25.2 2008-02-05 2007-08-20 2007-08-20 ENSG00000151692 ENSG00000151692 9781 RING-type (C3HC4) zinc fingers 20457 protein-coding gene gene with protein product ring finger protein 144 RNF144 NA 8724849, 10431818 Standard NM_014746 NM_014746 NA Approved UBCE7IP4, KIAA0161 uc002qys.3 P50876 OTTHUMG00000090353 ENST00000320892.6:c.*1587C>T chr2.hg19:g.7181478C>T NA D6W4Y6|Q585H5 hg19 CCDS1657.1 0.02 7.050798 ATTxGTT COVERED NOVEL RNF144A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000206725.2 1 9.629775 KEEP 0 0 0 32 1052 CC 0.999997 0.999997 0 + 13 60 471 0 0 33.727135 147 60 5213 237 ENST00000320892.6 0.08125 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 7421778 7421778 __UNKNOWN__ IGR SNP A A T rs4668534 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:7421778A>T NA NA RP11-557L19.1 (20143 upstream) : AC013460.1 (139617 downstream) NA NA NA TAGCTGCTGAAGCACGAAGCA 0.512 NA a||| 1483 0.296126 0.4251 0.1772 5008 , , NA 18760 0.4018 NA 0.1819 False NA ,,, NA NA NA 2504 0.2147 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.7421778A>T NA hg19 0.02 5.964662 TGAxGCA COVERED NOVEL 0 0 3.609697 KEEP 0 0 0 12 361 AA 0.993634 0.993634 0 7 60 244 0 0 15.05636 164 60 6093 203 0.040936 1 KIDINS220 57498 __UNKNOWN__ __UNKNOWN__ 2 8887426 8887426 __UNKNOWN__ Intron SNP A A G rs12622593 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:8887426A>G ENST00000256707.3 - 26 3710 KIDINS220_ENST00000418530.1_Intron|KIDINS220_ENST00000427284.1_Intron|KIDINS220_ENST00000473731.1_Intron NM_020738.2 NP_065789.1 Q9ULH0 KDIS_HUMAN kinase D-interacting substrate, 220kDa NA NA activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976) cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234) PDZ domain binding (GO:0030165) NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 60 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) AATATACAACACTGAAACTCA 0.338 NA A||| 727 0.145168 0.0991 0.1614 5008 , , NA 18584 0.1746 NA 0.1302 False NA ,,, NA NA NA 2504 0.181 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK025528 CCDS42650.1 2p24 2013-01-10 ENSG00000134313 ENSG00000134313 57498 Ankyrin repeat domain containing 29508 protein-coding gene gene with protein product ankyrin repeat-rich membrane-spanning protein 615759 NA 10998417, 10574462 Standard NM_020738 NM_020738 NA Approved ARMS uc002qzc.2 Q9ULH0 OTTHUMG00000151658 ENST00000256707.3:c.3529-95T>C chr2.hg19:g.8887426A>G NA A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42 hg19 CCDS42650.1 0.02 1.985972 AACxCTG COVERED NOVEL KIDINS220-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000323408.2 0 6.317246 KEEP 0 0 0 21 608 AA 0.999869 0.999088 0 - 4 60 142 0 0 9.214622 76 60 2672 117 ENST00000256707.3 0.05 0.999218 MBOAT2 129642 __UNKNOWN__ __UNKNOWN__ 2 8996728 8996728 __UNKNOWN__ 3'UTR SNP A A G rs1550254 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:8996728A>G ENST00000305997.3 - 0 3842 NM_138799.2 NP_620154.2 Q6ZWT7 MBOA2_HUMAN membrane bound O-acyltransferase domain containing 2 NA NA glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) 1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841) MBOAT2/PRKCE(2) endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1) 15 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) tctgtcacccaggctggagtg 0.448 NA A||| 2198 0.438898 0.0401 0.6643 5008 , , NA 14346 0.7361 NA 0.5706 False NA ,,, NA NA NA 2504 0.3763 NA NA NA Ovarian(194;1699 3813 22401) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC016005 CCDS1660.1 2p25 2008-02-05 2006-06-29 2006-06-29 ENSG00000143797 ENSG00000143797 129642 25193 protein-coding gene gene with protein product 611949 O-acyltransferase (membrane bound) domain containing 2 OACT2 NA Standard NM_138799 NM_138799 NA Approved FLJ14415, FLJ90298 uc002qzg.1 Q6ZWT7 OTTHUMG00000090363 ENST00000305997.3:c.*2081T>C chr2.hg19:g.8996728A>G NA A9EDR2|Q8NCE7|Q96KY4 hg19 CCDS1660.1 0.02 -0.377252 CCCxGGC COVERED NOVEL MBOAT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000206735.1 3 3.009131 KEEP 0 0 0 10 312 AA 0.992708 0.90244 0 - 3 60 105 0 0 7.239261 39 64 1459 56 ENST00000305997.3 0.071429 0.909069 ASAP2 8853 __UNKNOWN__ __UNKNOWN__ 2 9419415 9419415 __UNKNOWN__ Intron SNP C C T rs10170149 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:9419415C>T ENST00000281419.3 + 2 466 ASAP2_ENST00000315273.4_Intron NM_003887.2 NP_003878.1 O43150 ASAP2_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 NA NA positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312) Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886) ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 36 AGCACAGACACGGTTTAATGA 0.507 NA C||| 2744 0.547923 0.3048 0.5014 5008 , , NA 20184 0.7073 NA 0.6322 False NA ,,, NA NA NA 2504 0.6585 NA NA NA NA 0 C , 1645,2761 504.2+/-365.8 323,999,881 125 114 117 , 0.3 0 2 dbSNP_119 117 5322,3278 647.7+/-400.4 1653,2016,631 no intron,intron ASAP2 NM_001135191.1,NM_003887.2 , 1976,3015,1512 TT,TC,CC 38.1163,37.3355,46.4324 , , 9419415 6967,6039 2203 4300 6503 SO:0001627 intron_variant AB007860 CCDS1661.1, CCDS46224.1 2p24 2013-01-10 2008-09-22 2008-09-22 ENSG00000151693 ENSG00000151693 8853 ADP-ribosylation factor GTPase activating proteins, Pleckstrin homology (PH) domain containing, Ankyrin repeat domain containing 2721 protein-coding gene gene with protein product centaurin, beta 3 603817 development and differentiation enhancing factor 2 DDEF2 NA 10022920, 9455477 Standard NM_003887 NM_003887 NA Approved KIAA0400, PAP, SHAG1, CENTB3 uc002qzh.2 O43150 OTTHUMG00000117485 ENST00000281419.3:c.127-31C>T chr2.hg19:g.9419415C>T NA D6W4Y8 hg19 CCDS1661.1 0.02 11.99184 ACAxGGT COVERED NOVEL ASAP2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000237522.1 0 11.07123 KEEP 0 1 32 48 1708 CC 1 1 0 + 16 60 595 0 0 41.205613 238 60 8532 370 ENST00000281419.3 0.062992 1 ASAP2 8853 __UNKNOWN__ __UNKNOWN__ 2 9463454 9463454 __UNKNOWN__ Intron SNP C C T rs12475160 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:9463454C>T ENST00000281419.3 + 6 940 ASAP2_ENST00000315273.4_Intron NM_003887.2 NP_003878.1 O43150 ASAP2_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 NA NA positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312) Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886) ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 36 AGCATCTCACCGGTACCAGCG 0.572 NA C||| 3101 0.619209 0.289 0.7435 5008 , , NA 18285 0.8502 NA 0.6332 False NA ,,, NA NA NA 2504 0.7249 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB007860 CCDS1661.1, CCDS46224.1 2p24 2013-01-10 2008-09-22 2008-09-22 ENSG00000151693 ENSG00000151693 8853 ADP-ribosylation factor GTPase activating proteins, Pleckstrin homology (PH) domain containing, Ankyrin repeat domain containing 2721 protein-coding gene gene with protein product centaurin, beta 3 603817 development and differentiation enhancing factor 2 DDEF2 NA 10022920, 9455477 Standard NM_003887 NM_003887 NA Approved KIAA0400, PAP, SHAG1, CENTB3 uc002qzh.2 O43150 OTTHUMG00000117485 ENST00000281419.3:c.600+75C>T chr2.hg19:g.9463454C>T NA D6W4Y8 hg19 CCDS1661.1 0.02 6.868534 CACxGGT COVERED NOVEL ASAP2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000237522.1 2 8.461596 KEEP 0 1 31 39 1326 CC 1 1 0 + 11 60 406 0 0 27.82695 171 60 5725 266 ENST00000281419.3 0.06044 1 ASAP2 8853 __UNKNOWN__ __UNKNOWN__ 2 9498863 9498863 __UNKNOWN__ Intron SNP T T C rs80340978 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:9498863T>C ENST00000281419.3 + 15 1667 ASAP2_ENST00000315273.4_Intron NM_003887.2 NP_003878.1 O43150 ASAP2_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 NA NA positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312) Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886) ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 36 GAAGCTCAAATCTGCCCTGTT 0.488 NA T||| 255 0.0509185 0.0023 0.0259 5008 , , NA 20163 0.2113 NA 0.0139 False NA ,,, NA NA NA 2504 0.0072 NA NA NA NA 0 T , 24,4382 30.8+/-60.4 0,24,2179 194 195 194 , -8.2 0 2 dbSNP_132 194 89,8511 51.1+/-111.2 2,85,4213 no intron,intron ASAP2 NM_001135191.1,NM_003887.2 , 2,109,6392 CC,CT,TT 1.0349,0.5447,0.8688 , , 9498863 113,12893 2203 4300 6503 SO:0001627 intron_variant AB007860 CCDS1661.1, CCDS46224.1 2p24 2013-01-10 2008-09-22 2008-09-22 ENSG00000151693 ENSG00000151693 8853 ADP-ribosylation factor GTPase activating proteins, Pleckstrin homology (PH) domain containing, Ankyrin repeat domain containing 2721 protein-coding gene gene with protein product centaurin, beta 3 603817 development and differentiation enhancing factor 2 DDEF2 NA 10022920, 9455477 Standard NM_003887 NM_003887 NA Approved KIAA0400, PAP, SHAG1, CENTB3 uc002qzh.2 O43150 OTTHUMG00000117485 ENST00000281419.3:c.1328-22T>C chr2.hg19:g.9498863T>C NA D6W4Y8 hg19 CCDS1661.1 0.02 7.211486 AAAxCTG COVERED NOVEL ASAP2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000237522.1 1 11.132384 KEEP 0 0 0 37 1149 TT 1 1 0 + 7 60 266 0 0 17.597202 146 60 5341 228 ENST00000281419.3 0.045752 1 TAF1B 9014 __UNKNOWN__ __UNKNOWN__ 2 10059097 10059097 __UNKNOWN__ Intron SNP A A C rs2303921|rs568805994 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:10059097A>C ENST00000263663.5 + 13 1459 TAF1B_ENST00000396242.3_Intron NM_005680.2 NP_005671 Q53T94 TAF1B_HUMAN TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa NA NA gene expression (GO:0010467)|RNA polymerase I transcriptional preinitiation complex assembly at the promoter for the nuclear large rRNA transcript (GO:0001189)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription, DNA-templated (GO:0006351) extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I core factor complex (GO:0070860) metal ion binding (GO:0046872)|RNA polymerase I CORE element sequence-specific DNA binding (GO:0001164)|RNA polymerase I CORE element sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001187)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TBP-class protein binding (GO:0017025) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 14 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) GAAATCTCAGATAGTGCTTCA 0.443 NA A||| 2515 0.502196 0.5688 0.4813 5008 , , NA 19370 0.5476 NA 0.3996 False NA ,,, NA NA NA 2504 0.4857 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L39061 CCDS33143.1 2p25 2008-06-02 2002-08-29 ENSG00000115750 ENSG00000115750 9014 11533 protein-coding gene gene with protein product 604904 TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kD NA 7801123 Standard NM_005680 NM_005680 NA Approved TAFI63, SL1, RAF1B, RAFI63 uc002qzz.3 Q53T94 OTTHUMG00000151673 ENST00000263663.5:c.1272-73A>C chr2.hg19:g.10059097A>C NA B4DI42|F8WD72|Q15574|Q8WVC3 hg19 CCDS33143.1 0.02 19.067485 CAGxTAG COVERED NOVEL TAF1B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000323426.2 2 13.672194 KEEP 0 1 36 58 1863 AA 1 1 0 + 13 60 501 0 0 31.374969 390 60 14110 554 ENST00000263663.5 0.032258 1 TAF1B 9014 __UNKNOWN__ __UNKNOWN__ 2 10074384 10074384 __UNKNOWN__ 3'UTR SNP G G A rs1062160 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:10074384G>A ENST00000263663.5 + 0 2226 NM_005680.2 NP_005671 Q53T94 TAF1B_HUMAN TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa NA NA gene expression (GO:0010467)|RNA polymerase I transcriptional preinitiation complex assembly at the promoter for the nuclear large rRNA transcript (GO:0001189)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription, DNA-templated (GO:0006351) extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I core factor complex (GO:0070860) metal ion binding (GO:0046872)|RNA polymerase I CORE element sequence-specific DNA binding (GO:0001164)|RNA polymerase I CORE element sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001187)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TBP-class protein binding (GO:0017025) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 14 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) TATACTCATCGTATTTTAAAG 0.279 NA G||| 887 0.177117 0.0098 0.2363 5008 , , NA 14685 0.2887 NA 0.2038 False NA ,,, NA NA NA 2504 0.2188 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L39061 CCDS33143.1 2p25 2008-06-02 2002-08-29 ENSG00000115750 ENSG00000115750 9014 11533 protein-coding gene gene with protein product 604904 TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kD NA 7801123 Standard NM_005680 NM_005680 NA Approved TAFI63, SL1, RAF1B, RAFI63 uc002qzz.3 Q53T94 OTTHUMG00000151673 ENST00000263663.5:c.*271G>A chr2.hg19:g.10074384G>A NA B4DI42|F8WD72|Q15574|Q8WVC3 hg19 CCDS33143.1 0.02 6.313185 ATCxTAT COVERED NOVEL TAF1B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000323426.2 1 6.921897 KEEP 0 0 0 23 768 GG 0.999892 0.999892 0 + 8 60 276 0 0 17.770173 146 60 5265 192 ENST00000263663.5 0.051948 1 GRHL1 29841 __UNKNOWN__ __UNKNOWN__ 2 10126330 10126330 __UNKNOWN__ Missense_Mutation SNP G G A rs2303920 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:10126330G>A ENST00000324907.9 + 9 1325 c.1189G>A c.(1189-1191)Gtt>Att p.V397I GRHL1_ENST00000324883.5_Missense_Mutation_p.V208I|GRHL1_ENST00000405379.2_Missense_Mutation_p.V397I NM_198182.2 NP_937825.2 Q9NZI5 GRHL1_HUMAN grainyhead-like 1 (Drosophila) 397 NA V -> I (in dbSNP:rs2303920). {ECO:0000269|PubMed:15489334}. cellular lipid metabolic process (GO:0044255)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA binding (GO:0003677) p.V208I(1) cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 17 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246) TAACATTCAAGTTGATACCTA 0.488 NA A||| 1316 0.26278 0.3064 0.402 5008 , , NA 12735 0.2599 NA 0.2316 False NA ,,, NA NA NA 2504 0.1401 NA NA NA NA 1 Substitution - Missense(1) stomach(1) A ILE/VAL 1374,3032 689.5+/-405.1 222,930,1051 204 208 207 1189 5.5 0.4 2 dbSNP_100 207 1832,6768 731.2+/-406.8 199,1434,2667 yes missense GRHL1 NM_198182.2 29 421,2364,3718 AA,AG,GG 21.3023,31.1847,24.6502 benign 397/619 10126330 3206,9800 2203 4300 6503 SO:0001583 missense AF198489 CCDS33144.1, CCDS33144.2 2p25.2 2008-02-05 2005-07-11 2005-07-11 ENSG00000134317 ENSG00000134317 29841 17923 protein-coding gene gene with protein product 609786 transcription factor CP2-like 2 TFCP2L2 NA 10644752, 12393799 Standard NM_014552 NM_198182 NA Approved LBP-32, MGR uc002raa.3 Q9NZI5 OTTHUMG00000151704 ENST00000324907.9:c.1189G>A chr2.hg19:g.10126330G>A ENSP00000324693:p.Val397Ile NA A6NLA4|B2R7E4|B5MEC2|Q53T93|Q6NWN7|Q6NWN8|Q6NWN9|Q8NI33 hg19 CCDS33144.2 0.02 6.637405 CAAxTTG COVERED 625 0.28617216117216115 168 0.34146341463414637 142 0.39226519337016574 143 0.25 172 0.22691292875989447 A 8.514 0.867179 0.17250 0.311847 0.213023 ENSG00000134317 ENST00000405379;ENST00000324883;ENST00000324907 T;T;T 0.15487 2.42;2.42;2.42 5.49 5.49 0.81192 CP2 transcription factor (1); 0.000000 0.85682 N 0.000000 T 0.00012 0.0000 N 0.00465 -1.465 0.47659 P 5.159999999999609E-4 B;B 0.02656 0.0;0.0 B;B 0.04013 0.001;0.001 T 0.45041 -0.9288 9 0.02654 T 1 -2.9841 11.4774 0.50306 0.9295:0.0:0.0705:0.0 rs2303920;rs52812320;rs59250653;rs2303920 208;397 Q9NZI5-2;Q9NZI5 .;GRHL1_HUMAN I 397;208;397 ENSP00000384209:V397I;ENSP00000324494:V208I;ENSP00000324693:V397I ENSP00000324494:V208I V + 1 0 GRHL1 10043781 1.000000 0.71417 0.392000 0.26245 0.930000 0.56654 6.326000 0.72905 0.922000 0.37019 -0.490000 0.04691 GTT NOVEL GRHL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000323543.2 1 15.952394 KEEP 0 0 0 53 1929 GG 1 1 0 + 6 60 230 0 0 14.532976 168 60 6299 292 ENST00000324907.9 0.034483 1 GRHL1 29841 __UNKNOWN__ __UNKNOWN__ 2 10140651 10140651 __UNKNOWN__ Intron SNP A A G rs2163338 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:10140651A>G ENST00000324907.9 + 16 1878 GRHL1_ENST00000324883.5_Intron|GRHL1_ENST00000480736.1_Intron|GRHL1_ENST00000405379.2_Intron NM_198182.2 NP_937825.2 Q9NZI5 GRHL1_HUMAN grainyhead-like 1 (Drosophila) NA NA cellular lipid metabolic process (GO:0044255)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA binding (GO:0003677) cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 17 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246) gagagctaacaggtcaatcta 0.453 NA A||| 1966 0.392572 0.4327 0.5504 5008 , , NA 18798 0.4038 NA 0.329 False NA ,,, NA NA NA 2504 0.2802 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF198489 CCDS33144.1, CCDS33144.2 2p25.2 2008-02-05 2005-07-11 2005-07-11 ENSG00000134317 ENSG00000134317 29841 17923 protein-coding gene gene with protein product 609786 transcription factor CP2-like 2 TFCP2L2 NA 10644752, 12393799 Standard NM_014552 NM_198182 NA Approved LBP-32, MGR uc002raa.3 Q9NZI5 OTTHUMG00000151704 ENST00000324907.9:c.1743-70A>G chr2.hg19:g.10140651A>G NA A6NLA4|B2R7E4|B5MEC2|Q53T93|Q6NWN7|Q6NWN8|Q6NWN9|Q8NI33 hg19 CCDS33144.2 0.02 4.572037 AACxGGT COVERED NOVEL GRHL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000323543.2 0 6.018358 KEEP 0 0 0 20 634 AA 0.999863 0.99984 0 + 6 60 210 0 0 13.93127 97 60 3618 147 ENST00000324907.9 0.058252 0.999978 GRHL1 29841 __UNKNOWN__ __UNKNOWN__ 2 10141191 10141191 __UNKNOWN__ 3'UTR SNP G G A rs1465638 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:10141191G>A ENST00000324907.9 + 0 2349 GRHL1_ENST00000324883.5_3'UTR|GRHL1_ENST00000405379.2_3'UTR NM_198182.2 NP_937825.2 Q9NZI5 GRHL1_HUMAN grainyhead-like 1 (Drosophila) NA NA cellular lipid metabolic process (GO:0044255)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA binding (GO:0003677) cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 17 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246) TGTGCCTACAGTGTCGTGGGC 0.458 NA A||| 2121 0.423522 0.5484 0.5562 5008 , , NA 17087 0.4038 NA 0.327 False NA ,,, NA NA NA 2504 0.2802 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF198489 CCDS33144.1, CCDS33144.2 2p25.2 2008-02-05 2005-07-11 2005-07-11 ENSG00000134317 ENSG00000134317 29841 17923 protein-coding gene gene with protein product 609786 transcription factor CP2-like 2 TFCP2L2 NA 10644752, 12393799 Standard NM_014552 NM_198182 NA Approved LBP-32, MGR uc002raa.3 Q9NZI5 OTTHUMG00000151704 ENST00000324907.9:c.*356G>A chr2.hg19:g.10141191G>A NA A6NLA4|B2R7E4|B5MEC2|Q53T93|Q6NWN7|Q6NWN8|Q6NWN9|Q8NI33 hg19 CCDS33144.2 0.02 8.763132 ACAxTGT COVERED NOVEL GRHL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000323543.2 1 18.059177 KEEP 0 0 0 60 2182 GG 1 1 0 + 10 60 373 0 0 24.061335 228 60 8610 339 ENST00000324907.9 0.042017 1 GRHL1 29841 __UNKNOWN__ __UNKNOWN__ 2 10142073 10142073 __UNKNOWN__ 3'UTR SNP T T C rs1052835 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:10142073T>C ENST00000324907.9 + 0 3231 GRHL1_ENST00000324883.5_3'UTR|GRHL1_ENST00000405379.2_3'UTR NM_198182.2 NP_937825.2 Q9NZI5 GRHL1_HUMAN grainyhead-like 1 (Drosophila) NA NA cellular lipid metabolic process (GO:0044255)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA binding (GO:0003677) cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 17 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246) CACAAAAATATGTTACTATGG 0.294 NA C||| 2583 0.515775 0.7345 0.621 5008 , , NA 19337 0.4067 NA 0.4384 False NA ,,, NA NA NA 2504 0.3374 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF198489 CCDS33144.1, CCDS33144.2 2p25.2 2008-02-05 2005-07-11 2005-07-11 ENSG00000134317 ENSG00000134317 29841 17923 protein-coding gene gene with protein product 609786 transcription factor CP2-like 2 TFCP2L2 NA 10644752, 12393799 Standard NM_014552 NM_198182 NA Approved LBP-32, MGR uc002raa.3 Q9NZI5 OTTHUMG00000151704 ENST00000324907.9:c.*1238T>C chr2.hg19:g.10142073T>C NA A6NLA4|B2R7E4|B5MEC2|Q53T93|Q6NWN7|Q6NWN8|Q6NWN9|Q8NI33 hg19 CCDS33144.2 0.02 6.111555 ATAxGTT COVERED NOVEL GRHL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000323543.2 0 14.441156 KEEP 0 0 0 48 1467 TT 1 1 0 + 7 60 250 0 0 15.547833 170 60 6277 260 ENST00000324907.9 0.039548 1 GRHL1 29841 __UNKNOWN__ __UNKNOWN__ 2 10142302 10142302 __UNKNOWN__ 3'UTR SNP G G A rs11246 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:10142302G>A ENST00000324907.9 + 0 3460 GRHL1_ENST00000324883.5_3'UTR|GRHL1_ENST00000405379.2_3'UTR NM_198182.2 NP_937825.2 Q9NZI5 GRHL1_HUMAN grainyhead-like 1 (Drosophila) NA NA cellular lipid metabolic process (GO:0044255)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA binding (GO:0003677) cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 17 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246) TATAACTTTTGTATTTTTTAT 0.274 NA A||| 2124 0.424121 0.5492 0.5562 5008 , , NA 17251 0.4038 NA 0.329 False NA ,,, NA NA NA 2504 0.2802 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF198489 CCDS33144.1, CCDS33144.2 2p25.2 2008-02-05 2005-07-11 2005-07-11 ENSG00000134317 ENSG00000134317 29841 17923 protein-coding gene gene with protein product 609786 transcription factor CP2-like 2 TFCP2L2 NA 10644752, 12393799 Standard NM_014552 NM_198182 NA Approved LBP-32, MGR uc002raa.3 Q9NZI5 OTTHUMG00000151704 ENST00000324907.9:c.*1467G>A chr2.hg19:g.10142302G>A NA A6NLA4|B2R7E4|B5MEC2|Q53T93|Q6NWN7|Q6NWN8|Q6NWN9|Q8NI33 hg19 CCDS33144.2 0.02 12.753469 TTTxTAT COVERED NOVEL GRHL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000323543.2 1 17.457315 KEEP 0 0 0 58 2115 GG 1 1 0 + 10 60 353 0 0 20.578028 329 60 12603 491 ENST00000324907.9 0.029499 1 GRHL1 29841 __UNKNOWN__ __UNKNOWN__ 2 10142331 10142331 __UNKNOWN__ 3'UTR SNP C C T rs1052838 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:10142331C>T ENST00000324907.9 + 0 3489 GRHL1_ENST00000324883.5_3'UTR|GRHL1_ENST00000405379.2_3'UTR NM_198182.2 NP_937825.2 Q9NZI5 GRHL1_HUMAN grainyhead-like 1 (Drosophila) NA NA cellular lipid metabolic process (GO:0044255)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA binding (GO:0003677) cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 17 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246) TTTTGTCTTGCGTGTTATTTT 0.259 NA T||| 1968 0.392971 0.4342 0.5504 5008 , , NA 17581 0.4038 NA 0.329 False NA ,,, NA NA NA 2504 0.2802 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF198489 CCDS33144.1, CCDS33144.2 2p25.2 2008-02-05 2005-07-11 2005-07-11 ENSG00000134317 ENSG00000134317 29841 17923 protein-coding gene gene with protein product 609786 transcription factor CP2-like 2 TFCP2L2 NA 10644752, 12393799 Standard NM_014552 NM_198182 NA Approved LBP-32, MGR uc002raa.3 Q9NZI5 OTTHUMG00000151704 ENST00000324907.9:c.*1496C>T chr2.hg19:g.10142331C>T NA A6NLA4|B2R7E4|B5MEC2|Q53T93|Q6NWN7|Q6NWN8|Q6NWN9|Q8NI33 hg19 CCDS33144.2 0.02 11.013365 TTGxGTG COVERED NOVEL GRHL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000323543.2 2 13.844416 KEEP 0 0 0 46 1581 CC 1 1 0 + 8 60 306 0 0 18.548985 280 60 9582 386 ENST00000324907.9 0.027778 1 HPCAL1 3241 __UNKNOWN__ __UNKNOWN__ 2 10563297 10563297 __UNKNOWN__ Intron SNP G G A rs2270305 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:10563297G>A ENST00000381765.3 + 5 1010 HPCAL1_ENST00000307845.3_Intron NM_134421.2 NP_602293.1 P37235 HPCL1_HUMAN hippocalcin-like 1 NA NA signal transduction (GO:0007165) extracellular vesicular exosome (GO:0070062) calcium ion binding (GO:0005509) endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 9 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.214) CCTCCCCTCTGCAGCTTCTTG 0.667 NA G||| 886 0.176917 0.2625 0.121 5008 , , NA 14595 0.0794 NA 0.1928 False NA ,,, NA NA NA 2504 0.1851 NA NA NA Pancreas(70;1384 1800 31595 46836) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS1671.1 2p25.1 2013-01-10 ENSG00000115756 ENSG00000115756 3241 EF-hand domain containing 5145 protein-coding gene gene with protein product visinin-like protein 3, calcium-binding protein BDR-1 600207 NA 8038222, 14739275 Standard NM_002149 NM_002149 NA Approved BDR1, HLP2, VILIP-3 uc031rnq.1 P37235 OTTHUMG00000090451 ENST00000381765.3:c.484+83G>A chr2.hg19:g.10563297G>A NA Q969S5 hg19 CCDS1671.1 0.02 1.587174 TCTxCAG COVERED NOVEL HPCAL1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000206898.1 1 6.621322 KEEP 0 0 0 22 764 GG 0.999879 0.999097 0 + 4 60 132 0 0 8.216737 76 60 2817 106 ENST00000381765.3 0.05 0.999218 NOL10 79954 __UNKNOWN__ __UNKNOWN__ 2 10729897 10729897 __UNKNOWN__ Intron SNP C C T rs759403 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:10729897C>T ENST00000381685.5 - 18 1528 NOL10_ENST00000538384.1_Intron|NOL10_ENST00000542668.1_Intron|AC092687.5_ENST00000414538.1_RNA|NOL10_ENST00000345985.3_Intron NM_024894.3 NP_079170.2 Q9BSC4 NOL10_HUMAN nucleolar protein 10 NA NA nucleus (GO:0005634) poly(A) RNA binding (GO:0044822) NA Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207) GGAAAAAGTACGTAAAAATTT 0.323 NA C||| 2957 0.590455 0.7753 0.5634 5008 , , NA 16802 0.626 NA 0.5169 False NA ,,, NA NA NA 2504 0.3988 NA NA NA NA 0 C 3297,1085 1274,749,168 15 15 15 -4.1 0 2 dbSNP_86 15 4322,4224 1124,2074,1075 no intron NOL10 NM_024894.2 2398,2823,1243 TT,TC,CC 49.4266,24.7604,41.0659 10729897 7619,5309 2191 4273 6464 SO:0001627 intron_variant AK024137 CCDS1673.2, CCDS58697.1, CCDS58698.1 2p25.1 2008-05-23 ENSG00000115761 ENSG00000115761 79954 25862 protein-coding gene gene with protein product polyglutamine binding protein 5 PQBP5 NA 12477932 Standard NM_024894 NM_024894 NA Approved FLJ14075 uc002raq.3 Q9BSC4 OTTHUMG00000119023 ENST00000381685.5:c.1423-20G>A chr2.hg19:g.10729897C>T NA A8K3R5|B4DLV0|Q53RC9|Q96TA5|Q9H7Y7|Q9H855 hg19 CCDS1673.2 0.02 4.077018 GTAxGTA COVERED NOVEL NOL10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000239227.1 0 2.84319 KEEP 0 1 33 21 688 CC 0.999879 0.999875 0 - 6 60 216 1 0 14.284059 107 60 3518 158 ENST00000381685.5 0.053097 0.999996 ROCK2 9475 __UNKNOWN__ __UNKNOWN__ 2 11333994 11333994 __UNKNOWN__ Intron SNP T T G rs2271621 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:11333994T>G ENST00000315872.6 - 30 4057 ROCK2_ENST00000401753.1_Intron NM_004850.3 NP_004841.2 O75116 ROCK2_HUMAN Rho-associated, coiled-coil containing protein kinase 2 NA NA actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939) centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198) breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2) 43 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162) CTATAAAAAATTTTGAATAAA 0.308 NA T||| 1512 0.301917 0.09 0.2305 5008 , , NA 14498 0.5526 NA 0.2853 False NA ,,, NA NA NA 2504 0.3978 NA NA NA NA 0 T 417,3161 31,355,1403 49 45 46 2.9 1 2 dbSNP_100 46 2284,5834 322,1640,2097 no intron ROCK2 NM_004850.3 353,1995,3500 GG,GT,TT 28.135,11.6546,23.0934 11333994 2701,8995 1789 4059 5848 SO:0001627 intron_variant D87931 CCDS42654.1 2p24 2013-01-10 ENSG00000134318 ENSG00000134318 9475 2.7.11.1 Pleckstrin homology (PH) domain containing 10252 protein-coding gene gene with protein product 604002 NA 9933571 Standard NM_004850 NA Approved uc002rbd.1 O75116 OTTHUMG00000149916 ENST00000315872.6:c.3609-11A>C chr2.hg19:g.11333994T>G NA Q53QZ0|Q53SJ7|Q9UQN5 hg19 CCDS42654.1 0.02 4.60376 AAAxTTT COVERED NOVEL ROCK2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000313886.3 0 10.231298 KEEP 0 0 0 34 1117 TT 0.999998 0.999998 0 - 7 60 273 0 0 18.465587 138 60 4868 203 ENST00000315872.6 0.048276 1 GREB1 9687 __UNKNOWN__ __UNKNOWN__ 2 11696674 11696674 __UNKNOWN__ 5'UTR SNP C C T rs10197364 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:11696674C>T ENST00000381486.2 + 0 234 GREB1_ENST00000234142.5_5'UTR|GREB1_ENST00000381483.2_5'UTR|GREB1_ENST00000389825.3_Intron|GREB1_ENST00000263834.5_5'UTR NM_014668.3 NP_055483.2 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 NA NA integral component of membrane (GO:0016021) breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1) 30 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) TTCTACCTTGCGTGGAGCCAG 0.527 NA C||| 366 0.0730831 0.2269 0.0303 5008 , , NA 19394 0.0198 NA 0.002 False NA ,,, NA NA NA 2504 0.0235 NA NA NA Ovarian(39;850 945 2785 23371 33093) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant CCDS33146.1, CCDS33147.1, CCDS42655.1 2p25.1 2010-02-17 2009-09-10 ENSG00000196208 ENSG00000196208 9687 24885 protein-coding gene gene with protein product gene regulated by estrogen in breast cancer 611736 NA 11103799 Standard NM_014668 NM_014668 NA Approved KIAA0575 uc002rbk.1 Q4ZG55 OTTHUMG00000141276 ENST00000381486.2:c.-67C>T chr2.hg19:g.11696674C>T NA A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8 hg19 CCDS42655.1 0.02 14.575155 TTGxGTG COVERED NOVEL GREB1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000280490.1 1 76.111048 KEEP 0 0 0 253 8785 CC 1 1 0 + 14 60 499 0 0 30.543962 367 60 13061 797 ENST00000381486.2 0.036745 1 GREB1 9687 __UNKNOWN__ __UNKNOWN__ 2 11706693 11706693 __UNKNOWN__ Missense_Mutation SNP T T C rs4669751 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:11706693T>C ENST00000381486.2 + 4 665 c.365T>C c.(364-366)gTc>gCc p.V122A GREB1_ENST00000234142.5_Missense_Mutation_p.V122A|GREB1_ENST00000381483.2_Missense_Mutation_p.V122A|GREB1_ENST00000389825.3_Missense_Mutation_p.V12A|GREB1_ENST00000263834.5_Missense_Mutation_p.V122A NM_014668.3 NP_055483.2 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 122 NA V -> A (in dbSNP:rs4669751). integral component of membrane (GO:0016021) breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1) 30 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) CTCGTGGGGGTCAAGTCCCCC 0.597 NA C||| 1719 0.343251 0.7663 0.1499 5008 , , NA 16677 0.2401 NA 0.1093 False NA ,,, NA NA NA 2504 0.2556 NA NA NA Ovarian(39;850 945 2785 23371 33093) NA 0 C ALA/VAL,ALA/VAL,ALA/VAL 2710,1696 512.1+/-368.0 853,1004,346 105 95 99 365,365,365 4.6 1 2 dbSNP_111 99 921,7679 777.5+/-407.7 51,819,3430 yes missense,missense,missense GREB1 NM_014668.3,NM_033090.2,NM_148903.2 64,64,64 904,1823,3776 CC,CT,TT 10.7093,38.493,27.9179 benign,benign,benign 122/1950,122/458,122/410 11706693 3631,9375 2203 4300 6503 SO:0001583 missense CCDS33146.1, CCDS33147.1, CCDS42655.1 2p25.1 2010-02-17 2009-09-10 ENSG00000196208 ENSG00000196208 9687 24885 protein-coding gene gene with protein product gene regulated by estrogen in breast cancer 611736 NA 11103799 Standard NM_014668 NM_014668 NA Approved KIAA0575 uc002rbk.1 Q4ZG55 OTTHUMG00000141276 ENST00000381486.2:c.365T>C chr2.hg19:g.11706693T>C ENSP00000370896:p.Val122Ala NA A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8 hg19 CCDS42655.1 0.02 11.653312 GGGxCAA COVERED 643 0.2944139194139194 358 0.7276422764227642 58 0.16022099447513813 144 0.2517482517482518 83 0.10949868073878628 C 6.279 0.419512 0.11928 0.61507 0.107093 ENSG00000196208 ENST00000381486;ENST00000263834;ENST00000389825;ENST00000381483;ENST00000234142 T;T;T;T;T 0.39787 3.46;2.37;1.06;2.39;3.46 5.51 4.63 0.57726 . 0.069830 0.64402 N 0.000020 T 0.00012 0.0000 N 0.00841 -1.15 0.41610 P 0.011090999999999962 B;B;B;B 0.02656 0.0;0.0;0.0;0.0 B;B;B;B 0.01281 0.0;0.0;0.0;0.0 T 0.43653 -0.9378 9 0.02654 T 1 -40.3849 9.3506 0.38136 0.0:0.7832:0.0:0.2168 rs4669751;rs57292736;rs4669751 122;12;122;122 Q4ZG55-2;F8W6E5;Q4ZG55-3;Q4ZG55 .;.;.;GREB1_HUMAN A 122;122;12;122;122 ENSP00000370896:V122A;ENSP00000263834:V122A;ENSP00000374475:V12A;ENSP00000370892:V122A;ENSP00000234142:V122A ENSP00000234142:V122A V + 2 0 GREB1 11624144 0.950000 0.32346 1.000000 0.80357 0.984000 0.73092 1.195000 0.32186 0.709000 0.31976 -0.119000 0.15052 GTC NOVEL GREB1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000280490.1 1 49.914179 KEEP 0 0 0 166 5011 TT 1 1 0 + 13 60 487 0 0 32.237342 259 60 8852 565 ENST00000381486.2 0.047794 1 GREB1 9687 __UNKNOWN__ __UNKNOWN__ 2 11706730 11706730 __UNKNOWN__ Silent SNP C C T rs13383579 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:11706730C>T ENST00000381486.2 + 4 702 c.402C>T c.(400-402)tgC>tgT p.C134C GREB1_ENST00000234142.5_Silent_p.C134C|GREB1_ENST00000381483.2_Silent_p.C134C|GREB1_ENST00000389825.3_Silent_p.C24C|GREB1_ENST00000263834.5_Silent_p.C134C NM_014668.3 NP_055483.2 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 134 NA integral component of membrane (GO:0016021) breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1) 30 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) TCCTGGTGTGCGCCGTTGACA 0.567 NA C||| 296 0.0591054 0.1785 0.0231 5008 , , NA 18658 0.0198 NA 0.001 False NA ,,, NA NA NA 2504 0.0235 NA NA NA Ovarian(39;850 945 2785 23371 33093) NA 0 C ,, 641,3765 276.3+/-273.0 51,539,1613 155 127 136 402,402,402 -6.7 0.6 2 dbSNP_121 136 18,8582 13.3+/-46.6 0,18,4282 no coding-synonymous,coding-synonymous,coding-synonymous GREB1 NM_014668.3,NM_033090.2,NM_148903.2 ,, 51,557,5895 TT,TC,CC 0.2093,14.5483,5.0669 ,, 134/1950,134/458,134/410 11706730 659,12347 2203 4300 6503 SO:0001819 synonymous_variant CCDS33146.1, CCDS33147.1, CCDS42655.1 2p25.1 2010-02-17 2009-09-10 ENSG00000196208 ENSG00000196208 9687 24885 protein-coding gene gene with protein product gene regulated by estrogen in breast cancer 611736 NA 11103799 Standard NM_014668 NM_014668 NA Approved KIAA0575 uc002rbk.1 Q4ZG55 OTTHUMG00000141276 ENST00000381486.2:c.402C>T chr2.hg19:g.11706730C>T NA A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8 hg19 CCDS42655.1 0.02 10.542984 GTGxGCC COVERED NOVEL GREB1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000280490.1 1 42.81282 KEEP 0 2 41 157 5301 CC 1 1 0 + 12 60 401 0 0 25.191499 239 60 8229 533 ENST00000381486.2 0.047809 1 GREB1 9687 __UNKNOWN__ __UNKNOWN__ 2 11736305 11736305 __UNKNOWN__ Missense_Mutation SNP G G A rs36030386 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:11736305G>A ENST00000381486.2 + 13 2194 c.1894G>A c.(1894-1896)Gct>Act p.A632T GREB1_ENST00000234142.5_Missense_Mutation_p.A632T NM_014668.3 NP_055483.2 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 632 NA A -> T (in dbSNP:rs36030386). integral component of membrane (GO:0016021) breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1) 30 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) TTCCTCACTCGCTGCCTCTTC 0.478 NA A||| 1079 0.215455 0.5696 0.1182 5008 , , NA 15567 0.0317 NA 0.1362 False NA ,,, NA NA NA 2504 0.0767 NA NA NA Ovarian(39;850 945 2785 23371 33093) NA 0 A THR/ALA 1771,2279 397,977,651 118 111 113 1894 1.4 0.1 2 dbSNP_126 113 1194,7216 93,1008,3104 yes missense GREB1 NM_014668.3 58 490,1985,3755 AA,AG,GG 14.1974,43.7284,23.7961 benign 632/1950 11736305 2965,9495 2025 4205 6230 SO:0001583 missense CCDS33146.1, CCDS33147.1, CCDS42655.1 2p25.1 2010-02-17 2009-09-10 ENSG00000196208 ENSG00000196208 9687 24885 protein-coding gene gene with protein product gene regulated by estrogen in breast cancer 611736 NA 11103799 Standard NM_014668 NM_014668 NA Approved KIAA0575 uc002rbk.1 Q4ZG55 OTTHUMG00000141276 ENST00000381486.2:c.1894G>A chr2.hg19:g.11736305G>A ENSP00000370896:p.Ala632Thr NA A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8 hg19 CCDS42655.1 0.02 8.819001 CTCxCTG COVERED 422 0.19322344322344323 253 0.5142276422764228 44 0.12154696132596685 20 0.03496503496503497 105 0.13852242744063326 A 1.886 -0.456552 0.04540 0.437284 0.141974 ENSG00000196208 ENST00000381486;ENST00000234142;ENST00000432985 T;T;T 0.43294 3.29;3.29;0.95 4.63 1.38 0.22167 . 1.029010 0.07715 N 0.942640 T 0.00012 0.0000 N 0.03608 -0.345 0.80722 P 0.0 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.45906 -0.9229 9 0.08599 T 0.76 -34.9125 0.7537 0.00995 0.458:0.129:0.2244:0.1886 rs36030386 266;632 C9JIG0;Q4ZG55 .;GREB1_HUMAN T 632;632;266 ENSP00000370896:A632T;ENSP00000234142:A632T;ENSP00000403886:A266T ENSP00000234142:A632T A + 1 0 GREB1 11653756 0.010000 0.17322 0.058000 0.19502 0.940000 0.58332 -0.047000 0.11963 -0.071000 0.12886 -1.189000 0.01698 GCT NOVEL GREB1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000280490.1 0 25.281636 KEEP 0 0 0 84 2936 GG 1 1 0 + 10 60 357 0 0 23.043838 199 60 7238 371 ENST00000381486.2 0.047847 1 NTSR2 23620 __UNKNOWN__ __UNKNOWN__ 2 11798955 11798955 __UNKNOWN__ Intron SNP A A C rs80254523 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:11798955A>C ENST00000306928.5 - 4 1024 NM_012344.3 NP_036476 O95665 NTR2_HUMAN neurotensin receptor 2 NA NA cell surface receptor signaling pathway (GO:0007166)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of membrane potential (GO:0042391)|sensory perception (GO:0007600) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930) breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1) 17 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24) Levocabastine(DB01106) GACGAAGCCTATTTTCTGCTA 0.517 NA A||| 185 0.0369409 0.0 0.0778 5008 , , NA 20859 0.126 NA 0.001 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Y10148 CCDS1681.1 2p25.1 2012-08-08 ENSG00000169006 ENSG00000169006 23620 GPCR / Class A : Neurotensin receptors 8040 protein-coding gene gene with protein product 605538 NA 8647296, 9851594 Standard NM_012344 NA Approved NTR2 uc002rbq.4 O95665 OTTHUMG00000119083 ENST00000306928.5:c.990-107T>G chr2.hg19:g.11798955A>C NA Q53QQ5|Q57Z87|Q8IY58|Q8TBH6 hg19 CCDS1681.1 0.02 1.868608 CCTxTTT COVERED NOVEL NTSR2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000239297.1 0 2.407044 KEEP 0 0 0 8 243 AA 0.99257 0.991982 0 - 4 60 151 0 0 10.091036 77 60 2756 90 ENST00000306928.5 0.049383 0.999407 LPIN1 23175 __UNKNOWN__ __UNKNOWN__ 2 11966317 11966317 __UNKNOWN__ 3'UTR SNP T T C rs11524 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:11966317T>C ENST00000396097.1 + 0 3666 LPIN1_ENST00000256720.2_3'UTR Q14693 LPIN1_HUMAN lipin 1 NA NA cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642) cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634) phosphatidate phosphatase activity (GO:0008195) autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 45 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173) TAAATTTCATTGTTAGAATCA 0.313 NA C||| 1158 0.23123 0.4985 0.1916 5008 , , NA 18220 0.1806 NA 0.1004 False NA ,,, NA NA NA 2504 0.0849 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D80010 CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1 2p25.1 2008-05-23 ENSG00000134324 ENSG00000134324 23175 13345 protein-coding gene gene with protein product 605518 NA 11138012, 8724849, 16950137 Standard NM_145693 NM_145693 NA Approved KIAA0188 uc010yjm.3 Q14693 OTTHUMG00000119082 ENST00000396097.1:c.*1400T>C chr2.hg19:g.11966317T>C NA A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25 hg19 0.02 7.819563 CATxGTT COVERED NOVEL LPIN1-005 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000277151.1 2 16.249347 KEEP 0 0 0 54 1715 TT 1 1 0 + 7 60 267 0 0 17.698916 146 60 5481 275 ENST00000396097.1 0.045752 1 AC096559.1 0 __UNKNOWN__ __UNKNOWN__ 2 12165157 12165157 __UNKNOWN__ lincRNA SNP C C T rs12466928 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:12165157C>T ENST00000412294.1 + 0 197 NA NA NA AAATAAAAGTCATTAGTGCGA 0.308 NA T||| 2853 0.569688 0.2186 0.6758 5008 , , NA 17770 0.6161 NA 0.7247 False NA ,,, NA NA NA 2504 0.7618 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000412294.1: chr2.hg19:g.12165157C>T NA hg19 0.02 5.938193 AGTxATT COVERED NOVEL AC096559.1-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000323583.2 1 14.143074 KEEP 0 0 0 47 1632 CC 1 1 0 + 10 60 355 0 0 23.656613 164 60 6392 294 ENST00000412294.1 0.057471 1 NBAS 51594 __UNKNOWN__ __UNKNOWN__ 2 15415525 15415525 __UNKNOWN__ Intron SNP C C T rs3755127 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:15415525C>T ENST00000281513.5 - 44 5750 NBAS_ENST00000441750.1_Intron NM_015909.3 NP_056993.2 A2RRP1 NBAS_HUMAN neuroblastoma amplified sequence NA NA negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956) cytoplasm (GO:0005737)|membrane (GO:0016020) NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 AGAAAGGAAACAAAAATAAAA 0.279 NA T||| 3572 0.713259 0.9508 0.5663 5008 , , NA 18894 0.8601 NA 0.4423 False NA ,,, NA NA NA 2504 0.6237 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC051792 CCDS1685.1 2p24.3 2009-02-23 ENSG00000151779 ENSG00000151779 51594 15625 protein-coding gene gene with protein product 608025 NA 9926938, 12706883 Standard NM_015909 NM_015909 NA Approved NAG uc002rcc.2 A2RRP1 OTTHUMG00000121153 ENST00000281513.5:c.5724+82G>A chr2.hg19:g.15415525C>T NA O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5 hg19 CCDS1685.1 0.02 1.998238 AAAxAAA COVERED NOVEL NBAS-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000241638.1 0 4.513669 KEEP 0 0 0 15 487 CC 0.99649 0.996326 0 - 6 60 192 0 0 12.582774 84 60 3092 107 ENST00000281513.5 0.066667 0.999835 NBAS 51594 __UNKNOWN__ __UNKNOWN__ 2 15427173 15427173 __UNKNOWN__ Intron SNP C C T rs4668892 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:15427173C>T ENST00000281513.5 - 42 5164 NBAS_ENST00000441750.1_Intron NM_015909.3 NP_056993.2 A2RRP1 NBAS_HUMAN neuroblastoma amplified sequence NA NA negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956) cytoplasm (GO:0005737)|membrane (GO:0016020) NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 TGGAAACAAACGTACATATGA 0.398 NA C||| 3342 0.667332 0.8313 0.5389 5008 , , NA 21540 0.8591 NA 0.4215 False NA ,,, NA NA NA 2504 0.592 NA NA NA NA 0 C 3266,1140 716.1+/-408.6 1222,822,159 75 76 75 0.9 0 2 dbSNP_111 75 3696,4904 528.9+/-381.5 785,2126,1389 no intron NBAS NM_015909.2 2007,2948,1548 TT,TC,CC 42.9767,25.8738,46.4709 15427173 6962,6044 2203 4300 6503 SO:0001627 intron_variant BC051792 CCDS1685.1 2p24.3 2009-02-23 ENSG00000151779 ENSG00000151779 51594 15625 protein-coding gene gene with protein product 608025 NA 9926938, 12706883 Standard NM_015909 NM_015909 NA Approved NAG uc002rcc.2 A2RRP1 OTTHUMG00000121153 ENST00000281513.5:c.5138+23G>A chr2.hg19:g.15427173C>T NA O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5 hg19 CCDS1685.1 0.02 8.936622 AAAxGTA COVERED NOVEL NBAS-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000241638.1 1 18.359647 KEEP 0 0 0 61 2138 CC 1 1 0 - 11 60 409 0 0 26.742811 230 60 8395 392 ENST00000281513.5 0.045643 1 NBAS 51594 __UNKNOWN__ __UNKNOWN__ 2 15447050 15447050 __UNKNOWN__ Intron SNP C C G rs1808361 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:15447050C>G ENST00000281513.5 - 40 4823 NBAS_ENST00000441750.1_Intron NM_015909.3 NP_056993.2 A2RRP1 NBAS_HUMAN neuroblastoma amplified sequence NA NA negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956) cytoplasm (GO:0005737)|membrane (GO:0016020) NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 TCCTGCTCCTCTCAGCAATTC 0.433 NA G||| 3368 0.672524 0.7912 0.5548 5008 , , NA 18539 0.8581 NA 0.4503 False NA ,,, NA NA NA 2504 0.6329 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC051792 CCDS1685.1 2p24.3 2009-02-23 ENSG00000151779 ENSG00000151779 51594 15625 protein-coding gene gene with protein product 608025 NA 9926938, 12706883 Standard NM_015909 NM_015909 NA Approved NAG uc002rcc.2 A2RRP1 OTTHUMG00000121153 ENST00000281513.5:c.4797+1289G>C chr2.hg19:g.15447050C>G NA O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5 hg19 CCDS1685.1 0.02 2.124173 CCTxTCA COVERED NOVEL NBAS-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000241638.1 1 5.718875 KEEP 0 0 0 19 691 CC 0.99986 0.999586 0 - 6 60 227 0 0 16.082538 81 60 3087 128 ENST00000281513.5 0.068966 0.999726 NBAS 51594 __UNKNOWN__ __UNKNOWN__ 2 15448311 15448311 __UNKNOWN__ Intron SNP A A T rs1318102 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:15448311A>T ENST00000281513.5 - 40 4823 NBAS_ENST00000441750.1_Intron NM_015909.3 NP_056993.2 A2RRP1 NBAS_HUMAN neuroblastoma amplified sequence NA NA negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956) cytoplasm (GO:0005737)|membrane (GO:0016020) NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 ACTCTGCTCAATAATAAGCTG 0.403 NA T||| 3347 0.668331 0.7935 0.549 5008 , , NA 19184 0.8601 NA 0.4334 False NA ,,, NA NA NA 2504 0.6278 NA NA NA NA 0 T 3217,1189 413.0+/-336.3 1173,871,159 59 61 60 1.3 0 2 dbSNP_88 60 3838,4762 609.6+/-395.6 863,2112,1325 no intron NBAS NM_015909.2 2036,2983,1484 TT,TA,AA 44.6279,26.9859,45.7558 15448311 7055,5951 2203 4300 6503 SO:0001627 intron_variant BC051792 CCDS1685.1 2p24.3 2009-02-23 ENSG00000151779 ENSG00000151779 51594 15625 protein-coding gene gene with protein product 608025 NA 9926938, 12706883 Standard NM_015909 NM_015909 NA Approved NAG uc002rcc.2 A2RRP1 OTTHUMG00000121153 ENST00000281513.5:c.4797+28T>A chr2.hg19:g.15448311A>T NA O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5 hg19 CCDS1685.1 0.02 9.425422 TCAxTAA COVERED NOVEL NBAS-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000241638.1 2 12.613271 KEEP 0 0 0 42 1352 AA 1 1 0 - 11 60 425 0 0 29.060215 197 60 7187 304 ENST00000281513.5 0.052885 1 DDX1 1653 __UNKNOWN__ __UNKNOWN__ 2 15731859 15731859 __UNKNOWN__ 5'UTR SNP A A C rs10153729 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:15731859A>C ENST00000381341.2 + 0 191 DDX1_ENST00000233084.3_5'UTR Q92499 DDX1_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 1 NA NA ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|multicellular organismal development (GO:0007275)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translational initiation (GO:0006446)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388) cleavage body (GO:0071920)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|tRNA-splicing ligase complex (GO:0072669) ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA/RNA helicase activity (GO:0033677)|double-stranded RNA binding (GO:0003725)|exonuclease activity (GO:0004527)|nuclease activity (GO:0004518)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|transcription cofactor activity (GO:0003712) autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197) all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694) GBM - Glioblastoma multiforme(3;0.00969) Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133) TAGGTCCCAGAGGTCCGCTCA 0.657 NA C||| 3805 0.759784 0.8495 0.6499 5008 , , NA 15018 0.869 NA 0.5775 False NA ,,, NA NA NA 2504 0.7914 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant X70649 CCDS1686.1 2p24 2012-02-23 2012-02-23 ENSG00000079785 ENSG00000079785 1653 DEAD-boxes 2734 protein-coding gene gene with protein product 601257 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 1, DEAD (Asp-Glu-Ala-Asp) box polypeptide 1 NA 1552844, 19058135 Standard NM_004939 NM_004939 NA Approved DBP-RB uc002rce.4 Q92499 OTTHUMG00000090593 ENST00000381341.2:c.-199A>C chr2.hg19:g.15731859A>C NA B4DME8|B4DPN6 hg19 CCDS1686.1 0.02 3.470641 CAGxGGT COVERED NOVEL DDX1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207141.2 0 16.846504 KEEP 0 0 0 56 1732 AA 1 1 0 + 9 60 287 1 0 18.266116 140 60 5109 243 ENST00000381341.2 0.060403 1 DDX1 1653 __UNKNOWN__ __UNKNOWN__ 2 15731998 15731998 __UNKNOWN__ 5'UTR SNP A A G rs10221770 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:15731998A>G ENST00000381341.2 + 0 330 DDX1_ENST00000233084.3_5'UTR Q92499 DDX1_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 1 NA NA ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|multicellular organismal development (GO:0007275)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translational initiation (GO:0006446)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388) cleavage body (GO:0071920)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|tRNA-splicing ligase complex (GO:0072669) ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA/RNA helicase activity (GO:0033677)|double-stranded RNA binding (GO:0003725)|exonuclease activity (GO:0004527)|nuclease activity (GO:0004518)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|transcription cofactor activity (GO:0003712) autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197) all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694) GBM - Glioblastoma multiforme(3;0.00969) Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133) CGCCACTGCCACGCCGTGTCA 0.697 NA G||| 3857 0.770168 0.8888 0.6499 5008 , , NA 13264 0.869 NA 0.5775 False NA ,,, NA NA NA 2504 0.7914 NA NA NA NA 0 G 1175,203 501,173,15 14 23 20 -1.9 0 2 dbSNP_119 20 1966,1214 598,770,222 no utr-5 DDX1 NM_004939.1 1099,943,237 GG,GA,AA 38.1761,14.7315,31.0882 15731998 3141,1417 689 1590 2279 SO:0001623 5_prime_UTR_variant X70649 CCDS1686.1 2p24 2012-02-23 2012-02-23 ENSG00000079785 ENSG00000079785 1653 DEAD-boxes 2734 protein-coding gene gene with protein product 601257 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 1, DEAD (Asp-Glu-Ala-Asp) box polypeptide 1 NA 1552844, 19058135 Standard NM_004939 NM_004939 NA Approved DBP-RB uc002rce.4 Q92499 OTTHUMG00000090593 ENST00000381341.2:c.-60A>G chr2.hg19:g.15731998A>G NA B4DME8|B4DPN6 hg19 CCDS1686.1 0.02 3.998179 GCCxCGC COVERED NOVEL DDX1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207141.2 1 21.340424 KEEP 0 1 31 82 2427 AA 1 0.999999 0 + 7 60 236 0 0 15.284929 116 60 4012 261 ENST00000381341.2 0.056911 0.999999 DDX1 1653 __UNKNOWN__ __UNKNOWN__ 2 15735648 15735648 __UNKNOWN__ Silent SNP T T C rs2302929 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:15735648T>C ENST00000381341.2 + 4 492 c.103T>C c.(103-105)Ttg>Ctg p.L35L DDX1_ENST00000233084.3_Silent_p.L35L Q92499 DDX1_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 1 35 Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Necessary for interaction with HNRNPK.|Necessary for interaction with RELA. NA ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|multicellular organismal development (GO:0007275)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translational initiation (GO:0006446)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388) cleavage body (GO:0071920)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|tRNA-splicing ligase complex (GO:0072669) ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA/RNA helicase activity (GO:0033677)|double-stranded RNA binding (GO:0003725)|exonuclease activity (GO:0004527)|nuclease activity (GO:0004518)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|transcription cofactor activity (GO:0003712) autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197) all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694) GBM - Glioblastoma multiforme(3;0.00969) Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133) ATCTATCCCATTGATCTTAGG 0.383 NA T||| 876 0.17492 0.0333 0.1354 5008 , , NA 18132 0.371 NA 0.164 False NA ,,, NA NA NA 2504 0.2035 NA NA NA NA 0 T 272,4134 154.0+/-187.5 8,256,1939 130 122 125 103 -5.1 0 2 dbSNP_100 125 1624,6976 301.6+/-305.5 162,1300,2838 no coding-synonymous DDX1 NM_004939.1 170,1556,4777 CC,CT,TT 18.8837,6.1734,14.5779 35/741 15735648 1896,11110 2203 4300 6503 SO:0001819 synonymous_variant X70649 CCDS1686.1 2p24 2012-02-23 2012-02-23 ENSG00000079785 ENSG00000079785 1653 DEAD-boxes 2734 protein-coding gene gene with protein product 601257 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 1, DEAD (Asp-Glu-Ala-Asp) box polypeptide 1 NA 1552844, 19058135 Standard NM_004939 NM_004939 NA Approved DBP-RB uc002rce.4 Q92499 OTTHUMG00000090593 ENST00000381341.2:c.103T>C chr2.hg19:g.15735648T>C NA B4DME8|B4DPN6 hg19 CCDS1686.1 0.02 12.434246 CCAxTGA COVERED NOVEL DDX1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207141.2 2 21.061737 KEEP 0 0 0 70 2203 TT 1 1 0 + 11 60 434 0 0 28.615674 263 60 9591 443 ENST00000381341.2 0.040146 1 DDX1 1653 __UNKNOWN__ __UNKNOWN__ 2 15744123 15744123 __UNKNOWN__ Intron SNP T T G rs3213793 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:15744123T>G ENST00000381341.2 + 10 941 DDX1_ENST00000233084.3_Intron Q92499 DDX1_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 1 NA NA ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|multicellular organismal development (GO:0007275)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translational initiation (GO:0006446)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388) cleavage body (GO:0071920)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|tRNA-splicing ligase complex (GO:0072669) ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA/RNA helicase activity (GO:0033677)|double-stranded RNA binding (GO:0003725)|exonuclease activity (GO:0004527)|nuclease activity (GO:0004518)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|transcription cofactor activity (GO:0003712) autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197) all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694) GBM - Glioblastoma multiforme(3;0.00969) Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133) TGAGCAGATTTTCTGTATATT 0.289 NA T||| 1465 0.292532 0.5068 0.2205 5008 , , NA 17775 0.1944 NA 0.1531 False NA ,,, NA NA NA 2504 0.2986 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X70649 CCDS1686.1 2p24 2012-02-23 2012-02-23 ENSG00000079785 ENSG00000079785 1653 DEAD-boxes 2734 protein-coding gene gene with protein product 601257 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 1, DEAD (Asp-Glu-Ala-Asp) box polypeptide 1 NA 1552844, 19058135 Standard NM_004939 NM_004939 NA Approved DBP-RB uc002rce.4 Q92499 OTTHUMG00000090593 ENST00000381341.2:c.552+109T>G chr2.hg19:g.15744123T>G NA B4DME8|B4DPN6 hg19 CCDS1686.1 0.02 2.364505 ATTxTCT COVERED NOVEL DDX1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207141.2 0 3.309894 KEEP 0 0 0 11 357 TT 0.993072 0.990255 0 + 4 60 151 0 0 10.326336 67 60 2391 91 ENST00000381341.2 0.056338 0.997163 DDX1 1653 __UNKNOWN__ __UNKNOWN__ 2 15747393 15747393 __UNKNOWN__ Silent SNP C C T rs10929378 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:15747393C>T ENST00000381341.2 + 14 1301 c.912C>T c.(910-912)aaC>aaT p.N304N DDX1_ENST00000233084.3_Silent_p.N304N Q92499 DDX1_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 1 304 Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Necessary for interaction with RELA. NA ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|multicellular organismal development (GO:0007275)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translational initiation (GO:0006446)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388) cleavage body (GO:0071920)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|tRNA-splicing ligase complex (GO:0072669) ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA/RNA helicase activity (GO:0033677)|double-stranded RNA binding (GO:0003725)|exonuclease activity (GO:0004527)|nuclease activity (GO:0004518)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|transcription cofactor activity (GO:0003712) autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197) all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694) GBM - Glioblastoma multiforme(3;0.00969) Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133) AAACTTTGAACAACATCAAGC 0.373 NA T||| 3730 0.744808 0.8389 0.6196 5008 , , NA 16576 0.869 NA 0.5497 False NA ,,, NA NA NA 2504 0.7791 NA NA NA NA 0 T 3564,842 332.5+/-302.5 1439,686,78 96 95 95 912 -0.7 1 2 dbSNP_120 95 4944,3656 525.0+/-380.7 1405,2134,761 no coding-synonymous DDX1 NM_004939.1 2844,2820,839 TT,TC,CC 42.5116,19.1103,34.584 304/741 15747393 8508,4498 2203 4300 6503 SO:0001819 synonymous_variant X70649 CCDS1686.1 2p24 2012-02-23 2012-02-23 ENSG00000079785 ENSG00000079785 1653 DEAD-boxes 2734 protein-coding gene gene with protein product 601257 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 1, DEAD (Asp-Glu-Ala-Asp) box polypeptide 1 NA 1552844, 19058135 Standard NM_004939 NM_004939 NA Approved DBP-RB uc002rce.4 Q92499 OTTHUMG00000090593 ENST00000381341.2:c.912C>T chr2.hg19:g.15747393C>T NA B4DME8|B4DPN6 hg19 CCDS1686.1 0.02 11.015362 GAAxAAC COVERED NOVEL DDX1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207141.2 0 12.576179 KEEP 0 1 32 53 1903 CC 1 1 0 + 21 60 770 0 0 54.013772 278 60 10604 415 ENST00000381341.2 0.070234 1 AC008271.1 0 __UNKNOWN__ __UNKNOWN__ 2 15840623 15840623 __UNKNOWN__ Silent SNP A A G rs58183965 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:15840623A>G ENST00000436967.1 + 1 99 c.99A>G c.(97-99)taA>taG p.*33* AC008271.1_ENST00000492352.1_3'UTR NA NA NA tgcttaattaaccagccctgg 0.373 NA A||| 669 0.133586 0.1407 0.1427 5008 , , NA 17226 0.2659 NA 0.0567 False NA ,,, NA NA NA 2504 0.0603 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001819 synonymous_variant NA NA NA NA ENST00000436967.1:c.99A>G chr2.hg19:g.15840623A>G NA hg19 0.02 13.108196 TTAxCCA COVERED NOVEL AC008271.1-002 PUTATIVE mRNA_start_NF|cds_start_NF|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000323663.1 0 17.749446 KEEP 0 0 0 59 1802 AA 1 1 0 + 16 60 633 0 0 45.002198 238 60 8408 397 ENST00000436967.1 0.062992 1 FAM49A 81553 __UNKNOWN__ __UNKNOWN__ 2 16769240 16769240 __UNKNOWN__ Intron SNP A A G rs73211552 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:16769240A>G ENST00000381323.3 - 3 291 FAM49A_ENST00000355549.2_Intron|FAM49A_ENST00000406434.1_Intron NM_030797.3 NP_110424.1 Q9H0Q0 FA49A_HUMAN family with sequence similarity 49, member A NA NA intracellular (GO:0005622) breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088) GBM - Glioblastoma multiforme(3;0.00969) TGATATAAATATTTATGTTAT 0.269 NA A||| 308 0.0615016 0.1286 0.013 5008 , , NA 17662 0.0099 NA 0.002 False NA ,,, NA NA NA 2504 0.1196 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK001942 CCDS1688.1 2p24.3 2008-02-05 ENSG00000197872 ENSG00000197872 81553 25373 protein-coding gene gene with protein product NA Standard NM_030797 NM_030797 NA Approved DKFZP566A1524, FLJ11080 uc002rck.2 Q9H0Q0 OTTHUMG00000090615 ENST00000381323.3:c.70+77T>C chr2.hg19:g.16769240A>G NA B3KNZ1|Q53QW2 hg19 CCDS1688.1 0.02 6.941681 AATxTTT COVERED NOVEL FAM49A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207203.2 2 4.812641 KEEP 0 0 0 16 485 AA 0.997832 0.997832 0 - 7 60 273 0 0 18.118576 155 60 5435 178 ENST00000381323.3 0.04321 1 TTC32 130502 __UNKNOWN__ __UNKNOWN__ 2 20097874 20097874 __UNKNOWN__ Intron SNP T T C rs12328613 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:20097874T>C ENST00000333610.3 - 2 281 TTC32_ENST00000402414.1_Intron NM_001008237.1 NP_001008238.1 Q5I0X7 TTC32_HUMAN tetratricopeptide repeat domain 32 NA NA kidney(2)|large_intestine(1)|lung(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTTTTGGGTATTGTCAAACTT 0.348 NA T||| 1412 0.281949 0.2057 0.2305 5008 , , NA 20426 0.4058 NA 0.1759 False NA ,,, NA NA NA 2504 0.4029 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC057850 CCDS33151.1 2p24.1 2013-01-10 ENSG00000183891 ENSG00000183891 130502 Tetratricopeptide (TTC) repeat domain containing 32954 protein-coding gene gene with protein product NA Standard NM_001008237 NM_001008237 NA Approved uc002rdg.3 Q5I0X7 OTTHUMG00000151776 ENST00000333610.3:c.150-78A>G chr2.hg19:g.20097874T>C NA hg19 CCDS33151.1 0.02 6.194298 GTAxTGT COVERED NOVEL TTC32-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000323868.1 4 11.734418 KEEP 0 0 0 39 1229 TT 1 1 0 - 8 60 301 0 0 19.729068 171 60 6121 226 ENST00000333610.3 0.044693 1 TTC32 130502 __UNKNOWN__ __UNKNOWN__ 2 20101363 20101363 __UNKNOWN__ Intron SNP G G A rs7584726 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:20101363G>A ENST00000333610.3 - 1 281 TTC32_ENST00000402414.1_Intron NM_001008237.1 NP_001008238.1 Q5I0X7 TTC32_HUMAN tetratricopeptide repeat domain 32 NA NA kidney(2)|large_intestine(1)|lung(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCTGGGTTATGACAAGCGCCG 0.647 NA A||| 2547 0.508586 0.4675 0.4568 5008 , , NA 15744 0.624 NA 0.3996 False NA ,,, NA NA NA 2504 0.5941 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC057850 CCDS33151.1 2p24.1 2013-01-10 ENSG00000183891 ENSG00000183891 130502 Tetratricopeptide (TTC) repeat domain containing 32954 protein-coding gene gene with protein product NA Standard NM_001008237 NM_001008237 NA Approved uc002rdg.3 Q5I0X7 OTTHUMG00000151776 ENST00000333610.3:c.149+103C>T chr2.hg19:g.20101363G>A NA hg19 CCDS33151.1 0.02 5.795041 TATxACA COVERED NOVEL TTC32-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000323868.1 2 39.5959 KEEP 0 2 58 152 5279 GG 1 1 0 - 7 60 248 0 0 15.313623 172 60 6460 421 ENST00000333610.3 0.039106 1 WDR35 57539 __UNKNOWN__ __UNKNOWN__ 2 20126723 20126723 __UNKNOWN__ Intron SNP G G A rs6736663 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:20126723G>A ENST00000281405.4 - 25 3228 WDR35_ENST00000345530.3_Intron|WDR35_ENST00000416055.2_Intron NM_020779.3 NP_065830.2 Q9P2L0 WDR35_HUMAN WD repeat domain 35 NA NA cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721) axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991) breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) cccagctgtcgcaagcaacac 0.557 NA A||| 2541 0.507388 0.4614 0.4582 5008 , , NA 18904 0.622 NA 0.4026 False NA ,,, NA NA NA 2504 0.5941 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB037757 CCDS1695.1, CCDS33152.1 2p24.3 2014-02-21 ENSG00000118965 ENSG00000118965 57539 WD repeat domain containing, Intraflagellar transport homologs 29250 protein-coding gene gene with protein product 613602 NA 10718198 Standard NM_020779 NM_001006657 NA Approved MGC33196, KIAA1336, IFT121, IFTA1 uc002rdi.3 Q9P2L0 OTTHUMG00000090737 ENST00000281405.4:c.3121+3433C>T chr2.hg19:g.20126723G>A NA B3KVI5|Q4ZG01|Q8NE11 hg19 CCDS1695.1 0.02 -0.358682 GTCxCAA COVERED NOVEL WDR35-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207473.1 0 4.815229 KEEP 0 0 0 16 547 GG 0.997832 0.886948 0 - 3 60 105 0 0 7.27591 38 60 1360 71 ENST00000281405.4 0.073171 0.888875 WDR35 57539 __UNKNOWN__ __UNKNOWN__ 2 20135283 20135283 __UNKNOWN__ Silent SNP T T C rs6741091 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:20135283T>C ENST00000281405.4 - 21 2602 c.2496A>G c.(2494-2496)gaA>gaG p.E832E WDR35_ENST00000345530.3_Silent_p.E843E|WDR35_ENST00000416055.2_Silent_p.E408E NM_020779.3 NP_065830.2 Q9P2L0 WDR35_HUMAN WD repeat domain 35 843 NA cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721) axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991) breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCTCTAACCCTTCATAATCCT 0.348 NA C||| 2558 0.510783 0.472 0.4597 5008 , , NA 15149 0.623 NA 0.4026 False NA ,,, NA NA NA 2504 0.5951 NA NA NA NA 0 C , 1990,2416 614.2+/-392.3 473,1044,686 106 103 104 2529,2496 -4 0.2 2 dbSNP_116 104 3599,5001 625.0+/-397.7 757,2085,1458 no coding-synonymous,coding-synonymous WDR35 NM_001006657.1,NM_020779.3 , 1230,3129,2144 CC,CT,TT 41.8488,45.1657,42.9725 , 843/1182,832/1171 20135283 5589,7417 2203 4300 6503 SO:0001819 synonymous_variant AB037757 CCDS1695.1, CCDS33152.1 2p24.3 2014-02-21 ENSG00000118965 ENSG00000118965 57539 WD repeat domain containing, Intraflagellar transport homologs 29250 protein-coding gene gene with protein product 613602 NA 10718198 Standard NM_020779 NM_001006657 NA Approved MGC33196, KIAA1336, IFT121, IFTA1 uc002rdi.3 Q9P2L0 OTTHUMG00000090737 ENST00000281405.4:c.2496A>G chr2.hg19:g.20135283T>C NA B3KVI5|Q4ZG01|Q8NE11 hg19 CCDS1695.1 0.02 27.78514 CCCxTCA COVERED NOVEL WDR35-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207473.1 2 25.111538 KEEP 0 1 39 97 3137 TT 1 1 0 - 24 60 880 0 0 55.036672 622 60 23292 954 ENST00000281405.4 0.037152 1 WDR35 57539 __UNKNOWN__ __UNKNOWN__ 2 20189089 20189089 __UNKNOWN__ Intron SNP C C T rs3731663 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:20189089C>T ENST00000281405.4 - 2 131 WDR35_ENST00000345530.3_Intron NM_020779.3 NP_065830.2 Q9P2L0 WDR35_HUMAN WD repeat domain 35 NA NA cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721) axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991) breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CACGAAGGAGCTGGGAAGTAA 0.438 NA T||| 3113 0.621605 0.7738 0.513 5008 , , NA 19378 0.6518 NA 0.4682 False NA ,,, NA NA NA 2504 0.6196 NA NA NA NA 0 T , 3116,1290 431.2+/-342.8 1123,870,210 50 51 51 , -9.4 0 2 dbSNP_107 51 4273,4327 571.1+/-389.5 1055,2163,1082 no intron,intron WDR35 NM_001006657.1,NM_020779.3 , 2178,3033,1292 TT,TC,CC 49.686,29.2783,43.1878 , , 20189089 7389,5617 2203 4300 6503 SO:0001627 intron_variant AB037757 CCDS1695.1, CCDS33152.1 2p24.3 2014-02-21 ENSG00000118965 ENSG00000118965 57539 WD repeat domain containing, Intraflagellar transport homologs 29250 protein-coding gene gene with protein product 613602 NA 10718198 Standard NM_020779 NM_001006657 NA Approved MGC33196, KIAA1336, IFT121, IFTA1 uc002rdi.3 Q9P2L0 OTTHUMG00000090737 ENST00000281405.4:c.25-46G>A chr2.hg19:g.20189089C>T NA B3KVI5|Q4ZG01|Q8NE11 hg19 CCDS1695.1 0.02 12.092972 GAGxTGG COVERED NOVEL WDR35-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207473.1 2 30.570334 KEEP 0 2 61 123 4497 CC 1 1 0 - 13 60 454 0 0 28.150985 299 60 11370 528 ENST00000281405.4 0.041667 1 MATN3 4148 __UNKNOWN__ __UNKNOWN__ 2 20192696 20192696 __UNKNOWN__ 3'UTR SNP G G A rs7569975 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:20192696G>A ENST00000407540.3 - 0 1699 AC079145.4_ENST00000416575.1_RNA NM_002381.4 NP_002372.1 O15232 MATN3_HUMAN matrilin 3 NA NA extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501) extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578) extracellular matrix structural constituent (GO:0005201) central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1) 13 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTCCTTGGAAGAATCATGCTG 0.308 NA A||| 2550 0.509185 0.469 0.4582 5008 , , NA 18566 0.622 NA 0.4026 False NA ,,, NA NA NA 2504 0.593 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ001047 CCDS46226.1 2p24-p23 2008-06-03 ENSG00000132031 ENSG00000132031 4148 6909 protein-coding gene gene with protein product 602109 NA 9287130, 9350998 Standard NM_002381 NM_002381 NA Approved EDM5, HOA uc002rdl.3 O15232 OTTHUMG00000151788 ENST00000407540.3:c.*176C>T chr2.hg19:g.20192696G>A NA B2CPU0|Q4ZG02 hg19 CCDS46226.1 0.02 21.626934 GAAxAAT COVERED NOVEL MATN3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000323925.1 3 9.932 KEEP 0 0 0 33 1155 GG 0.999998 0.999998 0 - 21 60 728 0 0 43.354492 577 60 21491 667 ENST00000407540.3 0.035117 1 MATN3 4148 __UNKNOWN__ __UNKNOWN__ 2 20205680 20205680 __UNKNOWN__ Silent SNP C C T rs28401180 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:20205680C>T ENST00000407540.3 - 2 677 c.615G>A c.(613-615)gaG>gaA p.E205E MATN3_ENST00000421259.2_Silent_p.E205E NM_002381.4 NP_002372.1 O15232 MATN3_HUMAN matrilin 3 205 VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}. NA extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501) extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578) extracellular matrix structural constituent (GO:0005201) central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1) 13 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GAGCCGCCACCTCATTCACCT 0.597 NA C||| 2626 0.524361 0.528 0.4625 5008 , , NA 17859 0.619 NA 0.4026 False NA ,,, NA NA NA 2504 0.591 NA NA NA NA 0 C 1964,2134 494,976,579 21 25 23 615 3.5 1 2 dbSNP_125 23 3408,4988 716,1976,1506 no coding-synonymous MATN3 NM_002381.4 1210,2952,2085 TT,TC,CC 40.5908,47.9258,42.9966 205/487 20205680 5372,7122 2049 4198 6247 SO:0001819 synonymous_variant AJ001047 CCDS46226.1 2p24-p23 2008-06-03 ENSG00000132031 ENSG00000132031 4148 6909 protein-coding gene gene with protein product 602109 NA 9287130, 9350998 Standard NM_002381 NM_002381 NA Approved EDM5, HOA uc002rdl.3 O15232 OTTHUMG00000151788 ENST00000407540.3:c.615G>A chr2.hg19:g.20205680C>T NA B2CPU0|Q4ZG02 hg19 CCDS46226.1 0.02 11.593699 CACxTCA COVERED NOVEL MATN3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000323925.1 0 13.243598 KEEP 0 0 0 44 1606 CC 1 1 0 - 18 60 623 0 0 41.671893 272 60 10115 404 ENST00000407540.3 0.062069 1 MATN3 4148 __UNKNOWN__ __UNKNOWN__ 2 20205848 20205848 __UNKNOWN__ Silent SNP G G A rs28598872 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:20205848G>A ENST00000407540.3 - 2 509 c.447C>T c.(445-447)gcC>gcT p.A149A MATN3_ENST00000421259.2_Silent_p.A149A NM_002381.4 NP_002372.1 O15232 MATN3_HUMAN matrilin 3 149 VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}. NA extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501) extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578) extracellular matrix structural constituent (GO:0005201) central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1) 13 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTCGACCCACGGCCTGCTTCA 0.587 NA A||| 2628 0.52476 0.531 0.4625 5008 , , NA 19853 0.619 NA 0.4016 False NA ,,, NA NA NA 2504 0.59 NA NA NA NA 0 A 2056,2156 528,1000,578 66 71 69 447 -11.7 0.1 2 dbSNP_125 69 3481,4981 723,2035,1473 no coding-synonymous MATN3 NM_002381.4 1251,3035,2051 AA,AG,GG 41.1368,48.8129,43.6879 149/487 20205848 5537,7137 2106 4231 6337 SO:0001819 synonymous_variant AJ001047 CCDS46226.1 2p24-p23 2008-06-03 ENSG00000132031 ENSG00000132031 4148 6909 protein-coding gene gene with protein product 602109 NA 9287130, 9350998 Standard NM_002381 NM_002381 NA Approved EDM5, HOA uc002rdl.3 O15232 OTTHUMG00000151788 ENST00000407540.3:c.447C>T chr2.hg19:g.20205848G>A NA B2CPU0|Q4ZG02 hg19 CCDS46226.1 0.02 11.054488 CACxGCC COVERED NOVEL MATN3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000323925.1 1 9.029019 KEEP 0 0 0 30 1038 GG 0.999997 0.999997 0 - 15 60 517 0 0 33.690784 257 60 8956 346 ENST00000407540.3 0.055147 1 LAPTM4A 9741 __UNKNOWN__ __UNKNOWN__ 2 20251758 20251758 __UNKNOWN__ 5'UTR SNP C C T rs3754907 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:20251758C>T ENST00000175091.4 - 0 31 NM_014713.4 NP_055528.1 Q15012 LAP4A_HUMAN lysosomal protein transmembrane 4 alpha NA NA transport (GO:0006810) Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCACAAGGGGCTTTTCTGAGC 0.557 NA C||| 1396 0.278754 0.2216 0.1571 5008 , , NA 18568 0.4157 NA 0.1461 False NA ,,, NA NA NA 2504 0.4376 NA NA NA Ovarian(90;1240 1386 7711 14384 46863) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant D14696 CCDS1696.1 2p24.1 2008-08-11 2008-08-11 ENSG00000068697 ENSG00000068697 9741 6924 protein-coding gene gene with protein product lysosomal-associated protein transmembrane 4 alpha MBNT NA 8621662, 7788527 Standard NM_014713 NM_014713 NA Approved HUMORF13, KIAA0108, Mtrp, LAPTM4 uc002rdm.3 Q15012 OTTHUMG00000090750 ENST00000175091.4:c.-477G>A chr2.hg19:g.20251758C>T NA Q6UW22 hg19 CCDS1696.1 0.02 6.204137 GGGxTTT COVERED NOVEL LAPTM4A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207494.1 2 41.534548 KEEP 0 0 0 138 4989 CC 1 1 0 - 6 60 219 0 0 13.376212 172 60 6506 386 ENST00000175091.4 0.033708 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 20440321 20440321 __UNKNOWN__ IGR SNP C C T rs2072465 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:20440321C>T NA NA SDC1 (15127 upstream) : RNU7-113P (5765 downstream) NA NA NA ACTTCCAGCTCATTTTCAATT 0.473 NA C||| 1039 0.207468 0.0061 0.2421 5008 , , NA 20164 0.4871 NA 0.1382 False NA ,,, NA NA NA 2504 0.2382 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.20440321C>T NA hg19 0.02 4.296444 GCTxATT COVERED NOVEL 0 1 5.116719 KEEP 0 0 0 17 601 CC 0.999366 0.999366 0 5 60 184 0 0 11.707942 118 60 4510 158 0.04065 0.999999 HS1BP3 64342 __UNKNOWN__ __UNKNOWN__ 2 20817673 20817673 __UNKNOWN__ 3'UTR SNP G G A rs1047176 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:20817673G>A ENST00000304031.3 - 0 2278 NM_022460.3 NP_071905.3 Q53T59 H1BP3_HUMAN HCLS1 binding protein 3 NA NA phosphatidylinositol binding (GO:0035091) endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2) 15 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCTGGGGGTCGGGAGAAGTCT 0.542 NA G||| 713 0.142372 0.0976 0.1412 5008 , , NA 18157 0.0913 NA 0.2038 False NA ,,, NA NA NA 2504 0.1933 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS1700.1 2p24.1 2006-08-15 ENSG00000118960 ENSG00000118960 64342 24979 protein-coding gene gene with protein product 609359 NA 10590261, 15699368 Standard NM_022460 NM_022460 NA Approved HS1-BP3,FLJ14249 uc002rdw.1 Q53T59 OTTHUMG00000122099 ENST00000304031.3:c.*1074C>T chr2.hg19:g.20817673G>A NA B2RAW2|D6W529|Q86VC2|Q8N367 hg19 CCDS1700.1 0.02 7.232631 GTCxGGA COVERED NOVEL HS1BP3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000242863.1 1 40.870843 KEEP 0 2 51 154 5204 GG 1 1 0 - 6 60 225 0 0 14.224003 156 60 5277 399 ENST00000304031.3 0.037037 1 HS1BP3 64342 __UNKNOWN__ __UNKNOWN__ 2 20818764 20818764 __UNKNOWN__ Missense_Mutation SNP C C T rs3732149 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:20818764C>T ENST00000304031.3 - 7 1187 c.1162G>A c.(1162-1164)Gcc>Acc p.A388T NM_022460.3 NP_071905.3 Q53T59 H1BP3_HUMAN HCLS1 binding protein 3 388 NA A -> T (in dbSNP:rs3732149). {ECO:0000269|PubMed:15489334}. phosphatidylinositol binding (GO:0035091) endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2) 15 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGGCTGGGGGCGGCCTGGGCT 0.637 NA C||| 743 0.148363 0.1248 0.1398 5008 , , NA 16574 0.0913 NA 0.2048 False NA ,,, NA NA NA 2504 0.1871 NA NA NA NA 0 C THR/ALA 611,3795 265.3+/-266.6 43,525,1635 76 84 81 1162 -1.7 0 2 dbSNP_107 81 1793,6807 321.5+/-315.1 190,1413,2697 yes missense HS1BP3 NM_022460.3 58 233,1938,4332 TT,TC,CC 20.8488,13.8675,18.4838 benign 388/393 20818764 2404,10602 2203 4300 6503 SO:0001583 missense CCDS1700.1 2p24.1 2006-08-15 ENSG00000118960 ENSG00000118960 64342 24979 protein-coding gene gene with protein product 609359 NA 10590261, 15699368 Standard NM_022460 NM_022460 NA Approved HS1-BP3,FLJ14249 uc002rdw.1 Q53T59 OTTHUMG00000122099 ENST00000304031.3:c.1162G>A chr2.hg19:g.20818764C>T ENSP00000305193:p.Ala388Thr NA B2RAW2|D6W529|Q86VC2|Q8N367 hg19 CCDS1700.1 0.02 14.96166 GGGxGGC COVERED 310 0.14194139194139194 66 0.13414634146341464 59 0.16298342541436464 44 0.07692307692307693 141 0.18601583113456466 C 0.009 -1.802600 0.00611 0.138675 0.208488 ENSG00000118960 ENST00000304031 T 0.20200 2.09 5.84 -1.71 0.08133 . 0.813759 0.10956 N 0.615542 T 0.00012 0.0000 L 0.54323 1.7 0.28058 P 0.9330867 B 0.13594 0.008 B 0.08055 0.003 T 0.41770 -0.9490 9 0.14656 T 0.56 -2.4403 5.7246 0.18006 0.1467:0.3933:0.0:0.46 rs3732149;rs17662808;rs17855692;rs3732149 388 Q53T59 H1BP3_HUMAN T 388 ENSP00000305193:A388T ENSP00000305193:A388T A - 1 0 HS1BP3 20682245 0.000000 0.05858 0.015000 0.15790 0.064000 0.16182 -1.464000 0.02359 -0.708000 0.05015 -1.202000 0.01658 GCC NOVEL HS1BP3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000242863.1 1 70.616686 KEEP 0 2 60 256 8558 CC 1 1 0 - 11 60 383 0 0 21.815322 382 60 12619 824 ENST00000304031.3 0.02799 1 HS1BP3 64342 __UNKNOWN__ __UNKNOWN__ 2 20835450 20835450 __UNKNOWN__ Intron SNP A A G rs56336286 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:20835450A>G ENST00000304031.3 - 4 649 HS1BP3_ENST00000402541.1_3'UTR NM_022460.3 NP_071905.3 Q53T59 H1BP3_HUMAN HCLS1 binding protein 3 NA NA phosphatidylinositol binding (GO:0035091) endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2) 15 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CATAGGGTGGAAAAGCAGAGT 0.507 NA OREG0014480 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) A||| 726 0.144968 0.0983 0.1354 5008 , , NA 18152 0.0962 NA 0.2167 False NA ,,, NA NA NA 2504 0.1912 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS1700.1 2p24.1 2006-08-15 ENSG00000118960 ENSG00000118960 64342 24979 protein-coding gene gene with protein product 609359 NA 10590261, 15699368 Standard NM_022460 NM_022460 NA Approved HS1-BP3,FLJ14249 uc002rdw.1 Q53T59 OTTHUMG00000122099 ENST00000304031.3:c.623+2745T>C chr2.hg19:g.20835450A>G 743 B2RAW2|D6W529|Q86VC2|Q8N367 hg19 CCDS1700.1 0.02 8.567531 TGGxAAA COVERED NOVEL HS1BP3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000242863.1 2 25.640498 KEEP 0 2 71 110 3359 AA 1 1 0 - 8 60 293 0 0 17.778309 240 60 8519 441 ENST00000304031.3 0.032258 1 HS1BP3 64342 __UNKNOWN__ __UNKNOWN__ 2 20837719 20837719 __UNKNOWN__ Intron SNP G G A rs11680086 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:20837719G>A ENST00000304031.3 - 4 649 HS1BP3_ENST00000402541.1_3'UTR NM_022460.3 NP_071905.3 Q53T59 H1BP3_HUMAN HCLS1 binding protein 3 NA NA phosphatidylinositol binding (GO:0035091) endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2) 15 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) gaagaaaagagattgtaaatg 0.483 NA G||| 1355 0.270567 0.261 0.2723 5008 , , NA 21646 0.2202 NA 0.2624 False NA ,,, NA NA NA 2504 0.3425 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS1700.1 2p24.1 2006-08-15 ENSG00000118960 ENSG00000118960 64342 24979 protein-coding gene gene with protein product 609359 NA 10590261, 15699368 Standard NM_022460 NM_022460 NA Approved HS1-BP3,FLJ14249 uc002rdw.1 Q53T59 OTTHUMG00000122099 ENST00000304031.3:c.623+476C>T chr2.hg19:g.20837719G>A NA B2RAW2|D6W529|Q86VC2|Q8N367 hg19 CCDS1700.1 0.02 7.199843 AGAxATT COVERED NOVEL HS1BP3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000242863.1 3 20.458783 KEEP 0 0 0 68 2398 GG 1 1 0 - 8 60 268 0 0 15.666008 215 60 8175 359 ENST00000304031.3 0.035874 1 HS1BP3 64342 __UNKNOWN__ __UNKNOWN__ 2 20838222 20838222 __UNKNOWN__ Silent SNP C C T rs3796065 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:20838222C>T ENST00000304031.3 - 4 622 c.597G>A c.(595-597)gaG>gaA p.E199E HS1BP3_ENST00000402541.1_Silent_p.E199E NM_022460.3 NP_071905.3 Q53T59 H1BP3_HUMAN HCLS1 binding protein 3 199 Poly-Glu. NA phosphatidylinositol binding (GO:0035091) endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2) 15 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGTCCAGCGCCTCCTCCTCCT 0.582 NA C||| 690 0.13778 0.0976 0.1282 5008 , , NA 19365 0.0962 NA 0.1948 False NA ,,, NA NA NA 2504 0.183 NA NA NA NA 0 C 529,3877 240.9+/-251.5 34,461,1708 115 104 108 597 0.5 0.1 2 dbSNP_107 108 1698,6902 310.4+/-309.8 168,1362,2770 no coding-synonymous HS1BP3 NM_022460.3 202,1823,4478 TT,TC,CC 19.7442,12.0064,17.1229 199/393 20838222 2227,10779 2203 4300 6503 SO:0001819 synonymous_variant CCDS1700.1 2p24.1 2006-08-15 ENSG00000118960 ENSG00000118960 64342 24979 protein-coding gene gene with protein product 609359 NA 10590261, 15699368 Standard NM_022460 NM_022460 NA Approved HS1-BP3,FLJ14249 uc002rdw.1 Q53T59 OTTHUMG00000122099 ENST00000304031.3:c.597G>A chr2.hg19:g.20838222C>T NA B2RAW2|D6W529|Q86VC2|Q8N367 hg19 CCDS1700.1 0.02 18.37735 CGCxTCC COVERED NOVEL HS1BP3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000242863.1 2 49.957002 KEEP 0 0 0 166 5944 CC 1 1 0 - 14 60 513 1 0 31.619112 388 60 14576 710 ENST00000304031.3 0.034826 1 APOB 338 __UNKNOWN__ __UNKNOWN__ 2 21225281 21225281 __UNKNOWN__ Missense_Mutation SNP C C T rs1042034 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:21225281C>T ENST00000233242.1 - 29 13140 c.13013G>A c.(13012-13014)aGt>aAt p.S4338N NM_000384.2 NP_000375 P04114 APOB_HUMAN apolipoprotein B 4338 NA S -> N (in dbSNP:rs1042034). {ECO:0000269|PubMed:1979313, ECO:0000269|PubMed:22095935, ECO:0000269|PubMed:2883086, ECO:0000269|PubMed:2932736, ECO:0000269|PubMed:2994225, ECO:0000269|PubMed:3030729, ECO:0000269|PubMed:3464946, ECO:0000269|PubMed:3652907, ECO:0000269|PubMed:3759943, ECO:0000269|PubMed:3763409, ECO:0000269|Ref.6}. artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379) actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361) cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543) NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GATATAATCACTGAAGATTGT 0.279 NA T||| 3153 0.629593 0.8759 0.7493 5008 , , NA 19325 0.2798 NA 0.7823 False NA ,,, NA NA NA 2504 0.4151 NA NA NA NA 0 T ASN/SER 3708,690 257.0+/-261.6 1562,584,53 28 31 30 http://www.ncbi.nlm.nih.gov/pubmed?term 13013 1.6 0 2 dbSNP_86 30 6721,1869 317.6+/-313.3 2655,1411,229 yes missense APOB NM_000384.2 46 4217,1995,282 TT,TC,CC http://www.ncbi.nlm.nih.gov/pubmed?term 21.7579,15.6889,19.7028 benign 4338/4564 21225281 10429,2559 2199 4295 6494 SO:0001583 missense M14162 CCDS1703.1 2p24-p23 2013-05-29 2013-05-29 ENSG00000084674 ENSG00000084674 338 Apolipoproteins 603 protein-coding gene gene with protein product 107730 apolipoprotein B (including Ag(x) antigen) NA Standard NM_000384 NA Approved uc002red.3 P04114 OTTHUMG00000090785 ENST00000233242.1:c.13013G>A chr2.hg19:g.21225281C>T ENSP00000233242:p.Ser4338Asn NA O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0 hg19 CCDS1703.1 0.02 10.883255 TCAxTGA COVERED 1446 0.6620879120879121 415 0.8434959349593496 283 0.7817679558011049 166 0.2902097902097902 582 0.7678100263852242 T 0.140 -1.103068 0.01828 0.843111 0.782421 ENSG00000084674 ENST00000233242;ENST00000535079 T 0.36520 1.25 5.41 1.61 0.23674 . 1.173870 0.06125 N 0.669497 T 0.00012 0.0000 N 0.00368 -1.59 0.58432 P 2.9999999999752447E-6 B 0.02656 0.0 B 0.01281 0.0 T 0.36480 -0.9746 9 0.02654 T 1 . 5.789 0.18349 0.0:0.269:0.1281:0.6029 rs1042034;rs3181514;rs17041706;rs17240958;rs52829794;rs60186088;rs1042034 4338 P04114 APOB_HUMAN N 4338 ENSP00000233242:S4338N ENSP00000233242:S4338N S - 2 0 APOB 21078786 0.001000 0.12720 0.000000 0.03702 0.001000 0.01503 0.640000 0.24705 -0.124000 0.11724 -0.516000 0.04426 AGT NOVEL APOB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207571.1 2 4.649771 KEEP 0 1 30 26 928 CC 0.999988 0.999988 0 - 11 60 407 1 0 25.811903 269 60 10081 344 ENST00000233242.1 0.039286 1 KLHL29 114818 __UNKNOWN__ __UNKNOWN__ 2 23860168 23860168 __UNKNOWN__ Intron SNP G G A rs2288697 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:23860168G>A ENST00000486442.1 + 4 1002 NM_052920.1 NP_443152.1 Q96CT2 KLH29_HUMAN kelch-like family member 29 NA NA breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|lung(1)|ovary(3) 10 CCTTCAGACAGGGCACTCGTT 0.502 NA G||| 923 0.184305 0.0182 0.3775 5008 , , NA 20057 0.4802 NA 0.0427 False NA ,,, NA NA NA 2504 0.1125 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS54335.1 2p23.3 2013-09-27 2013-02-22 2007-01-09 ENSG00000119771 ENSG00000119771 114818 Kelch-like, BTB/POZ domain containing 29404 protein-coding gene gene with protein product kelch repeat and BTB (POZ) domain containing 9, kelch-like 29 (Drosophila) KBTBD9 NA 11572484 Standard NM_052920 NM_052920 NA Approved KIAA1921 uc010ykg.2 Q96CT2 OTTHUMG00000151899 ENST00000486442.1:c.286-1841G>A chr2.hg19:g.23860168G>A NA Q8N388|Q96BF0|Q96PW7 hg19 CCDS54335.1 0.02 6.936427 ACAxGGC COVERED NOVEL KLHL29-001 KNOWN mRNA_start_NF|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000324315.3 2 16.252714 KEEP 0 0 0 54 1917 GG 1 1 0 + 13 60 487 0 0 34.933297 158 60 5866 294 ENST00000486442.1 0.076023 1 KLHL29 114818 __UNKNOWN__ __UNKNOWN__ 2 23860216 23860216 __UNKNOWN__ Intron SNP C C A rs2288698 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:23860216C>A ENST00000486442.1 + 4 1002 NM_052920.1 NP_443152.1 Q96CT2 KLH29_HUMAN kelch-like family member 29 NA NA breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|lung(1)|ovary(3) 10 AAAAACCATGCTATTGTTCCC 0.522 NA C||| 926 0.184904 0.0204 0.3775 5008 , , NA 19016 0.4802 NA 0.0427 False NA ,,, NA NA NA 2504 0.1125 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS54335.1 2p23.3 2013-09-27 2013-02-22 2007-01-09 ENSG00000119771 ENSG00000119771 114818 Kelch-like, BTB/POZ domain containing 29404 protein-coding gene gene with protein product kelch repeat and BTB (POZ) domain containing 9, kelch-like 29 (Drosophila) KBTBD9 NA 11572484 Standard NM_052920 NM_052920 NA Approved KIAA1921 uc010ykg.2 Q96CT2 OTTHUMG00000151899 ENST00000486442.1:c.286-1793C>A chr2.hg19:g.23860216C>A NA Q8N388|Q96BF0|Q96PW7 hg19 CCDS54335.1 0.02 7.029261 ATGxTAT COVERED NOVEL KLHL29-001 KNOWN mRNA_start_NF|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000324315.3 0 12.942084 KEEP 0 0 0 43 1548 CC 1 1 0 + 11 60 390 0 0 27.15408 140 60 5315 242 ENST00000486442.1 0.072848 1 KLHL29 114818 __UNKNOWN__ __UNKNOWN__ 2 23865139 23865139 __UNKNOWN__ Intron SNP C C T rs3806509 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:23865139C>T ENST00000486442.1 + 5 1144 NM_052920.1 NP_443152.1 Q96CT2 KLH29_HUMAN kelch-like family member 29 NA NA breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|lung(1)|ovary(3) 10 agtgcagggccggggatggtc 0.567 NA C||| 921 0.183906 0.0234 0.3761 5008 , , NA 20683 0.4722 NA 0.0427 False NA ,,, NA NA NA 2504 0.1125 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS54335.1 2p23.3 2013-09-27 2013-02-22 2007-01-09 ENSG00000119771 ENSG00000119771 114818 Kelch-like, BTB/POZ domain containing 29404 protein-coding gene gene with protein product kelch repeat and BTB (POZ) domain containing 9, kelch-like 29 (Drosophila) KBTBD9 NA 11572484 Standard NM_052920 NM_052920 NA Approved KIAA1921 uc010ykg.2 Q96CT2 OTTHUMG00000151899 ENST00000486442.1:c.428-69C>T chr2.hg19:g.23865139C>T NA Q8N388|Q96BF0|Q96PW7 hg19 CCDS54335.1 0.02 6.32373 GGCxGGG COVERED NOVEL KLHL29-001 KNOWN mRNA_start_NF|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000324315.3 1 12.004366 KEEP 0 0 0 40 1380 CC 1 1 0 + 9 60 328 0 0 21.472979 176 60 6392 282 ENST00000486442.1 0.048649 1 KLHL29 114818 __UNKNOWN__ __UNKNOWN__ 2 23865176 23865176 __UNKNOWN__ Intron SNP G G A rs3806510 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:23865176G>A ENST00000486442.1 + 5 1144 NM_052920.1 NP_443152.1 Q96CT2 KLH29_HUMAN kelch-like family member 29 NA NA breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|lung(1)|ovary(3) 10 aAATGTAACCGGCAGATGACG 0.587 NA G||| 904 0.180511 0.0098 0.3761 5008 , , NA 19732 0.4722 NA 0.0427 False NA ,,, NA NA NA 2504 0.1135 NA NA NA NA 0 G 26,1358 0,26,666 14 16 15 1.1 0 2 dbSNP_107 15 196,2986 3,190,1398 no intron KLHL29 NM_052920.1 3,216,2064 AA,AG,GG 6.1596,1.8786,4.862 23865176 222,4344 692 1591 2283 SO:0001627 intron_variant CCDS54335.1 2p23.3 2013-09-27 2013-02-22 2007-01-09 ENSG00000119771 ENSG00000119771 114818 Kelch-like, BTB/POZ domain containing 29404 protein-coding gene gene with protein product kelch repeat and BTB (POZ) domain containing 9, kelch-like 29 (Drosophila) KBTBD9 NA 11572484 Standard NM_052920 NM_052920 NA Approved KIAA1921 uc010ykg.2 Q96CT2 OTTHUMG00000151899 ENST00000486442.1:c.428-32G>A chr2.hg19:g.23865176G>A NA Q8N388|Q96BF0|Q96PW7 hg19 CCDS54335.1 0.02 11.333458 ACCxGCA COVERED NOVEL KLHL29-001 KNOWN mRNA_start_NF|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000324315.3 1 18.041582 KEEP 0 0 0 60 2032 GG 1 1 0 + 9 60 316 0 0 18.983602 251 60 8661 408 ENST00000486442.1 0.034615 1 KLHL29 114818 __UNKNOWN__ __UNKNOWN__ 2 23866082 23866082 __UNKNOWN__ Intron SNP C C T rs3731615 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:23866082C>T ENST00000486442.1 + 5 1657 NM_052920.1 NP_443152.1 Q96CT2 KLH29_HUMAN kelch-like family member 29 NA NA breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|lung(1)|ovary(3) 10 CCACTCCTCTCAGGGCACCGC 0.602 NA T||| 932 0.186102 0.0234 0.3775 5008 , , NA 17682 0.4802 NA 0.0427 False NA ,,, NA NA NA 2504 0.1145 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS54335.1 2p23.3 2013-09-27 2013-02-22 2007-01-09 ENSG00000119771 ENSG00000119771 114818 Kelch-like, BTB/POZ domain containing 29404 protein-coding gene gene with protein product kelch repeat and BTB (POZ) domain containing 9, kelch-like 29 (Drosophila) KBTBD9 NA 11572484 Standard NM_052920 NM_052920 NA Approved KIAA1921 uc010ykg.2 Q96CT2 OTTHUMG00000151899 ENST00000486442.1:c.940+362C>T chr2.hg19:g.23866082C>T NA Q8N388|Q96BF0|Q96PW7 hg19 CCDS54335.1 0.02 2.108721 TCTxAGG COVERED NOVEL KLHL29-001 KNOWN mRNA_start_NF|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000324315.3 0 2.708949 KEEP 0 0 0 9 327 CC 0.99254 0.987004 0 + 5 60 181 0 0 12.797613 61 60 2325 80 ENST00000486442.1 0.075758 0.994422 UBXN2A 165324 __UNKNOWN__ __UNKNOWN__ 2 24167323 24167323 __UNKNOWN__ Intron SNP G G T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:24167323G>T ENST00000309033.4 + 1 230 UBXN2A_ENST00000446425.2_Intron|UBXN2A_ENST00000535786.1_Intron|UBXN2A_ENST00000404924.1_Intron NM_181713.3 NP_859064.2 P68543 UBX2A_HUMAN UBX domain protein 2A NA NA regulation of gene expression (GO:0010468)|regulation of protein catabolic process (GO:0042176)|regulation of protein ubiquitination (GO:0031396) cis-Golgi network (GO:0005801)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783) endometrium(1)|large_intestine(3)|liver(1)|lung(6) 11 CTCCTTATTTGTTTAGATTCT 0.413 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC037901 CCDS1704.1 2p24.1 2008-07-25 2008-07-25 2008-07-25 ENSG00000173960 ENSG00000173960 165324 UBX domain containing 27265 protein-coding gene gene with protein product UBX domain containing 4 UBXD4 NA 12477932 Standard NM_181713 NM_181713 NA Approved uc002ren.3 P68543 OTTHUMG00000125497 ENST00000309033.4:c.-15+3805G>T chr2.hg19:g.24167323G>T NA A8K577|B7ZKP8|Q569G8 hg19 CCDS1704.1 0.02 -0.43851 TTTxTTT COVERED NOVEL UBXN2A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000246824.2 0 6.01982 KEEP 0 0 0 20 724 GG 0.999863 0.959727 0 + 3 60 100 0 0 6.533469 46 60 1768 86 ENST00000309033.4 0.061224 0.959859 C2orf44 80304 __UNKNOWN__ __UNKNOWN__ 2 24252436 24252436 __UNKNOWN__ 3'UTR SNP A A G rs3204 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:24252436A>G ENST00000406895.3 - 0 3480 C2orf44_ENST00000295148.4_3'UTR NM_001142319.1 NP_001135791.1 Q9H6R7 CB044_HUMAN chromosome 2 open reading frame 44 NA NA C2orf44/ALK(2) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 24 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ACAGCTGATTACAGACATTGC 0.493 NA T ALK NSCLC A||| 2694 0.537939 0.3903 0.6599 5008 , , NA 20249 0.8254 NA 0.4433 False NA ,,, NA NA NA 2504 0.4519 NA NA NA Dom yes 2 2p23.3 80304 chromosome 2 open reading frame 44 E 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK025598 CCDS1705.1, CCDS46229.1 2p23.3 2012-07-30 ENSG00000163026 ENSG00000163026 80304 26157 protein-coding gene gene with protein product NA 22327622 Standard NM_025203 NM_025203 NA Approved FLJ21945 uc002rep.2 Q9H6R7 OTTHUMG00000125498 ENST00000406895.3:c.*1546T>C chr2.hg19:g.24252436A>G NA D6W532|Q8IYK0|Q9HBP5 hg19 CCDS46229.1 0.02 6.510519 ATTxCAG COVERED NOVEL C2orf44-002 NOVEL basic|appris_candidate|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000324347.2 1 6.448638 KEEP 0 1 33 33 954 AA 0.999998 0.999998 0 - 9 60 330 0 0 21.84849 168 60 6018 245 ENST00000406895.3 0.050847 1 NCOA1 8648 __UNKNOWN__ __UNKNOWN__ 2 24896389 24896389 __UNKNOWN__ Intron SNP T T G rs4665712 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:24896389T>G ENST00000406961.1 + 7 1006 NCOA1_ENST00000405141.1_Intron|NCOA1_ENST00000407230.1_Intron|NCOA1_ENST00000395856.3_Intron|NCOA1_ENST00000538539.1_Intron|NCOA1_ENST00000288599.5_Intron|NCOA1_ENST00000348332.3_Intron Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 NA NA androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654) androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713) PAX3/NCOA1(8) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 53 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCCAGTTTGGTTTTTTCTTTT 0.289 NA T PAX3 alveolar rhadomyosarcoma T||| 2921 0.583267 0.3268 0.7334 5008 , , NA 15137 0.7004 NA 0.6292 False NA ,,, NA NA NA 2504 0.6554 NA NA NA Dom yes 2 2p23 8648 nuclear receptor coactivator 1 M 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U40396 CCDS1712.1, CCDS1713.1, CCDS42660.1 2p23 2011-07-01 ENSG00000084676 ENSG00000084676 8648 Chromatin-modifying enzymes / K-acetyltransferases, Basic helix-loop-helix proteins 7668 protein-coding gene gene with protein product 602691 NA 7481822, 9575154 Standard NM_147223 XM_005264625 NA Approved SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74 uc002rfk.3 Q15788 OTTHUMG00000125523 ENST00000406961.1:c.354+57T>G chr2.hg19:g.24896389T>G NA O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3 hg19 CCDS1712.1 0.02 1.742544 TGGxTTT COVERED NOVEL NCOA1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000246852.3 0 2.543737 KEEP 0 1 36 21 694 TT 0.999879 0.999501 0 + 5 60 185 0 0 12.629149 80 60 2835 119 ENST00000406961.1 0.058824 0.999622 NCOA1 8648 __UNKNOWN__ __UNKNOWN__ 2 24905927 24905927 __UNKNOWN__ Silent SNP G G C rs11125744 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:24905927G>C ENST00000406961.1 + 8 1114 c.462G>C c.(460-462)acG>acC p.T154T NCOA1_ENST00000405141.1_Silent_p.T154T|NCOA1_ENST00000407230.1_Silent_p.T3T|NCOA1_ENST00000395856.3_Silent_p.T154T|NCOA1_ENST00000538539.1_Silent_p.T154T|NCOA1_ENST00000288599.5_Silent_p.T154T|NCOA1_ENST00000348332.3_Silent_p.T154T Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 154 PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}. NA androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654) androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713) PAX3/NCOA1(8) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 53 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TAATGAATACGAGCGTCTACA 0.368 NA T PAX3 alveolar rhadomyosarcoma C||| 4039 0.80651 0.5242 0.9063 5008 , , NA 13774 0.996 NA 0.8966 False NA ,,, NA NA NA 2504 0.8292 NA NA NA Dom yes 2 2p23 8648 nuclear receptor coactivator 1 M 0 C ,, 2523,1883 541.9+/-375.9 720,1083,400 87 85 86 462,462,462 3.7 1 2 dbSNP_120 86 7705,895 200.9+/-244.5 3456,793,51 no coding-synonymous,coding-synonymous,coding-synonymous NCOA1 NM_003743.4,NM_147223.2,NM_147233.2 ,, 4176,1876,451 CC,CG,GG 10.407,42.7372,21.3594 ,, 154/1442,154/1400,154/1441 24905927 10228,2778 2203 4300 6503 SO:0001819 synonymous_variant U40396 CCDS1712.1, CCDS1713.1, CCDS42660.1 2p23 2011-07-01 ENSG00000084676 ENSG00000084676 8648 Chromatin-modifying enzymes / K-acetyltransferases, Basic helix-loop-helix proteins 7668 protein-coding gene gene with protein product 602691 NA 7481822, 9575154 Standard NM_147223 XM_005264625 NA Approved SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74 uc002rfk.3 Q15788 OTTHUMG00000125523 ENST00000406961.1:c.462G>C chr2.hg19:g.24905927G>C NA O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3 hg19 CCDS1712.1 0.02 34.82306 TACxAGC COVERED NOVEL NCOA1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000246852.3 3 20.041594 KEEP 0 5 170 126 4337 GG 1 1 0 + 50 60 1876 0 0 133.13452 657 60 23932 1053 ENST00000406961.1 0.070721 1 NCOA1 8648 __UNKNOWN__ __UNKNOWN__ 2 24974945 24974945 __UNKNOWN__ Silent SNP T T G rs11125763 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:24974945T>G ENST00000406961.1 + 20 4453 c.3801T>G c.(3799-3801)ctT>ctG p.L1267L NCOA1_ENST00000405141.1_Silent_p.L1267L|NCOA1_ENST00000407230.1_Silent_p.L1116L|NCOA1_ENST00000395856.3_Silent_p.L1267L|NCOA1_ENST00000538539.1_Silent_p.L1267L|NCOA1_ENST00000288599.5_Silent_p.L1267L|NCOA1_ENST00000348332.3_Silent_p.L1267L Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 1267 NA androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654) androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713) PAX3/NCOA1(8) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 53 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGAGTTCTCTTCTCCAGCAAA 0.532 NA T PAX3 alveolar rhadomyosarcoma G||| 4187 0.836062 0.6278 0.9193 5008 , , NA 17454 0.996 NA 0.8976 False NA ,,, NA NA NA 2504 0.8303 NA NA NA Dom yes 2 2p23 8648 nuclear receptor coactivator 1 M 0 G ,, 2945,1461 471.8+/-356.2 983,979,241 75 69 71 3801,3801,3801 5.1 1 2 dbSNP_120 71 7706,894 200.7+/-244.4 3456,794,50 no coding-synonymous,coding-synonymous,coding-synonymous NCOA1 NM_003743.4,NM_147223.2,NM_147233.2 ,, 4439,1773,291 GG,GT,TT 10.3953,33.1593,18.107 ,, 1267/1442,1267/1400,1267/1441 24974945 10651,2355 2203 4300 6503 SO:0001819 synonymous_variant U40396 CCDS1712.1, CCDS1713.1, CCDS42660.1 2p23 2011-07-01 ENSG00000084676 ENSG00000084676 8648 Chromatin-modifying enzymes / K-acetyltransferases, Basic helix-loop-helix proteins 7668 protein-coding gene gene with protein product 602691 NA 7481822, 9575154 Standard NM_147223 XM_005264625 NA Approved SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74 uc002rfk.3 Q15788 OTTHUMG00000125523 ENST00000406961.1:c.3801T>G chr2.hg19:g.24974945T>G NA O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3 hg19 CCDS1712.1 0.02 4.183203 TCTxCTC COVERED NOVEL NCOA1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000246852.3 0 10.531389 KEEP 0 0 0 35 1089 TT 0.999999 0.999998 0 + 6 60 224 0 0 14.587858 130 60 4578 212 ENST00000406961.1 0.044118 1 ADCY3 109 __UNKNOWN__ __UNKNOWN__ 2 25042625 25042625 __UNKNOWN__ 3'UTR SNP C C G rs1044040 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:25042625C>G ENST00000405392.1 - 0 2551 CENPO_ENST00000395845.2_3'UTR|CENPO_ENST00000473706.1_3'UTR|CENPO_ENST00000380834.2_3'UTR|CENPO_ENST00000260662.1_3'UTR|ADCY3_ENST00000260600.5_3'UTR O60266 ADCY3_HUMAN adenylate cyclase 3 NA NA activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833) cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886) adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872) NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2) 44 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203) CAGGCACACACAGGAATAGCA 0.547 NA G||| 4131 0.82488 0.6029 0.9135 5008 , , NA 19488 0.9931 NA 0.8996 False NA ,,, NA NA NA 2504 0.8119 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF033861 CCDS1715.1 2p23.3 2013-02-04 ENSG00000138031 ENSG00000138031 109 4.6.1.1 Adenylate cyclases 234 protein-coding gene gene with protein product 600291 NA 9920776 Standard NM_004036 NA Approved AC3 uc002rfs.4 O60266 OTTHUMG00000094765 ENST00000405392.1:c.*176G>C chr2.hg19:g.25042625C>G NA B3KT86|Q53T54|Q9UDB1 hg19 0.02 4.758614 ACAxAGG COVERED NOVEL ADCY3-201 KNOWN basic|exp_conf protein_coding NA protein_coding 1 8.126857 KEEP 0 0 0 27 985 CC 0.999997 0.999997 0 - 11 60 437 0 0 31.871214 139 60 5237 208 ENST00000405392.1 0.073333 1 ADCY3 109 __UNKNOWN__ __UNKNOWN__ 2 25064193 25064193 __UNKNOWN__ 5'UTR SNP G G A rs2241759 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:25064193G>A ENST00000405392.1 - 0 143 ADCY3_ENST00000260600.5_Silent_p.P377P O60266 ADCY3_HUMAN adenylate cyclase 3 NA NA activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833) cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886) adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872) NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2) 44 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203) CCCGGTAGTCGGGCAAGCCGC 0.632 NA A||| 2557 0.510583 0.3555 0.4438 5008 , , NA 17167 0.7421 NA 0.4791 False NA ,,, NA NA NA 2504 0.5613 NA NA NA NA 0 A 1609,2793 304,1001,896 36 36 36 1131 -7.6 0.9 2 dbSNP_98 36 4197,4399 1066,2065,1167 yes coding-synonymous ADCY3 NM_004036.3 1370,3066,2063 AA,AG,GG 48.825,36.5516,44.6684 377/1145 25064193 5806,7192 2201 4298 6499 SO:0001623 5_prime_UTR_variant AF033861 CCDS1715.1 2p23.3 2013-02-04 ENSG00000138031 ENSG00000138031 109 4.6.1.1 Adenylate cyclases 234 protein-coding gene gene with protein product 600291 NA 9920776 Standard NM_004036 NA Approved AC3 uc002rfs.4 O60266 OTTHUMG00000094765 ENST00000405392.1:c.-37C>T chr2.hg19:g.25064193G>A NA B3KT86|Q53T54|Q9UDB1 hg19 0.02 4.172689 GTCxGGC COVERED NOVEL ADCY3-201 KNOWN basic|exp_conf protein_coding NA protein_coding 1 2.977726 KEEP 0 2 60 31 1043 GG 0.999998 0.999975 0 - 7 60 251 0 0 17.334928 96 60 3304 174 ENST00000405392.1 0.067961 0.999978 ADCY3 109 __UNKNOWN__ __UNKNOWN__ 2 25065274 25065274 __UNKNOWN__ Intron SNP T T G rs41281519 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:25065274T>G ENST00000260600.5 - 3 1677 NM_004036.3 NP_004027.2 O60266 ADCY3_HUMAN adenylate cyclase 3 NA NA activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833) cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886) adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872) NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2) 44 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203) CAGGAGAGGGTCAGAGGCAAA 0.547 NA T||| 242 0.0483227 0.0038 0.0519 5008 , , NA 21188 0.1022 NA 0.0845 False NA ,,, NA NA NA 2504 0.0133 NA NA NA NA 0 T 88,4318 70.9+/-108.8 2,84,2117 102 87 92 -5.6 0 2 dbSNP_127 92 678,7922 160.8+/-213.9 21,636,3643 no intron ADCY3 NM_004036.3 23,720,5760 GG,GT,TT 7.8837,1.9973,5.8896 25065274 766,12240 2203 4300 6503 SO:0001627 intron_variant AF033861 CCDS1715.1 2p23.3 2013-02-04 ENSG00000138031 ENSG00000138031 109 4.6.1.1 Adenylate cyclases 234 protein-coding gene gene with protein product 600291 NA 9920776 Standard NM_004036 NA Approved AC3 uc002rfs.4 O60266 OTTHUMG00000094765 ENST00000260600.5:c.826-21A>C chr2.hg19:g.25065274T>G NA B3KT86|Q53T54|Q9UDB1 hg19 CCDS1715.1 0.02 13.260837 GGGxCAG COVERED NOVEL ADCY3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000211574.2 1 20.154307 KEEP 0 0 0 67 2070 TT 1 1 0 - 13 60 472 0 0 30.105347 291 60 10186 457 ENST00000260600.5 0.042763 1 DNAJC27 51277 __UNKNOWN__ __UNKNOWN__ 2 25194741 25194741 __UNKNOWN__ Silent SNP G G A rs7593864 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:25194741G>A ENST00000264711.2 - 1 222 c.33C>T c.(31-33)ccC>ccT p.P11P DNAJC27-AS1_ENST00000451291.1_RNA|DNAJC27-AS1_ENST00000421904.1_RNA NM_001198559.1|NM_016544.2 NP_001185488.1|NP_057628.1 Q9NZQ0 DJC27_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 27 11 Required for interaction with MAPK1. {ECO:0000250|UniProtKB:Q8CFP6}. NA small GTPase mediated signal transduction (GO:0007264) mitochondrion (GO:0005739) GTP binding (GO:0005525) breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1) 13 GAGACCTGCCGGGCTCCTTCC 0.692 NA G||| 3570 0.712859 0.6324 0.8588 5008 , , NA 14385 0.744 NA 0.7873 False NA ,,, NA NA NA 2504 0.6094 NA NA NA NA 0 G , 2955,1451 672.5+/-402.6 1002,951,250 45 39 41 33,33 -11.6 0 2 dbSNP_116 41 6642,1958 714.2+/-406.0 2560,1522,218 no coding-synonymous,coding-synonymous DNAJC27 NM_001198559.1,NM_016544.2 , 3562,2473,468 AA,AG,GG 22.7674,32.9324,26.211 , 11/178,11/274 25194741 9597,3409 2203 4300 6503 SO:0001819 synonymous_variant CCDS1716.1, CCDS74493.1 2p23.3 2011-09-02 2008-08-20 2008-08-20 ENSG00000115137 ENSG00000115137 51277 Heat shock proteins / DNAJ (HSP40) 30290 protein-coding gene gene with protein product 613527 rab and DnaJ domain containing RBJ NA 14980719 Standard NM_016544 NM_016544 NA Approved RabJS uc002rft.2 Q9NZQ0 OTTHUMG00000125524 ENST00000264711.2:c.33C>T chr2.hg19:g.25194741G>A NA Q5JV88|Q86Y24 hg19 CCDS1716.1 0.02 6.763095 GCCxGGC COVERED NOVEL DNAJC27-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000246855.3 1 81.524718 KEEP 0 0 0 271 9258 GG 1 1 0 - 14 60 518 0 0 37.445562 157 60 5446 609 ENST00000264711.2 0.081871 1 DNAJC27-AS1 729723 __UNKNOWN__ __UNKNOWN__ 2 25205427 25205427 __UNKNOWN__ RNA SNP C C T rs1982200 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:25205427C>T ENST00000434897.1 + 0 107 DNAJC27-AS1_ENST00000451291.1_RNA|DNAJC27-AS1_ENST00000445389.1_RNA|DNAJC27-AS1_ENST00000428614.1_RNA NR_034113.1 DNAJC27 antisense RNA 1 NA NA NA ggagggaaatctttagagcta 0.443 NA C||| 2047 0.408746 0.0522 0.6225 5008 , , NA 20301 0.5188 NA 0.5328 False NA ,,, NA NA NA 2504 0.498 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA 2p23.3 2012-10-12 2012-08-15 ENSG00000224165 ENSG00000224165 729723 Long non-coding RNAs 42943 non-coding RNA RNA, long non-coding DNAJC27 antisense RNA 1 (non-protein coding) NA Standard NR_034113 NR_034113 NA Approved uc002rfv.4 OTTHUMG00000151981 ENST00000434897.1: chr2.hg19:g.25205427C>T NA hg19 0.02 -0.193013 AATxTTT COVERED NOVEL DNAJC27-AS1-004 KNOWN basic antisense NA antisense OTTHUMT00000324695.1 2 2.708902 KEEP 0 0 0 9 324 CC 0.99254 0.454342 0 + 6 60 219 0 0 19.164358 16 60 611 36 ENST00000434897.1 0.272727 0.457757 EFR3B 22979 __UNKNOWN__ __UNKNOWN__ 2 25314186 25314186 __UNKNOWN__ Intron SNP T T C rs2918630 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:25314186T>C ENST00000403714.3 + 2 190 EFR3B_ENST00000402191.1_Intron|EFR3B_ENST00000401432.3_Intron NM_014971.1 NP_055786.1 Q9Y2G0 EFR3B_HUMAN EFR3 homolog B (S. cerevisiae) NA NA endometrium(1) 1 TTCCCATTCTTATTCCAGGTG 0.582 NA C||| 2921 0.583267 0.475 0.6081 5008 , , NA 20496 0.7887 NA 0.4861 False NA ,,, NA NA NA 2504 0.6002 NA NA NA NA 0 C 701,683 171,359,162 149 128 134 3 0 2 dbSNP_101 134 1382,1800 290,802,499 no intron EFR3B NM_014971.1 461,1161,661 CC,CT,TT 43.4318,49.3497,45.6198 25314186 2083,2483 692 1591 2283 SO:0001627 intron_variant AB023170 CCDS46231.1 2p24.1 2008-02-05 2007-11-14 2007-11-14 ENSG00000084710 ENSG00000084710 22979 29155 protein-coding gene gene with protein product KIAA0953 KIAA0953 NA 10231032 Standard NM_014971 NM_014971 NA Approved FLJ37871 uc010eyh.3 Q9Y2G0 OTTHUMG00000151988 ENST00000403714.3:c.8-8T>C chr2.hg19:g.25314186T>C NA B7WPL8|Q86XU6 hg19 CCDS46231.1 0.02 8.946204 TCTxATT COVERED NOVEL EFR3B-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000324808.1 0 14.74238 KEEP 0 0 0 49 1497 TT 1 1 0 + 11 60 412 0 0 27.067174 229 60 8209 355 ENST00000403714.3 0.045833 1 ASXL2 55252 __UNKNOWN__ __UNKNOWN__ 2 26082212 26082212 __UNKNOWN__ Intron SNP T T C rs13425195 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:26082212T>C ENST00000435504.4 - 2 351 ASXL2_ENST00000336112.4_Intron|ASXL2_ENST00000272341.4_Intron Q76L83 ASXL2_HUMAN additional sex combs like transcriptional regulator 2 NA NA adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351) nuclear chromatin (GO:0000790) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TATTTAATTATAGCTGAACTT 0.269 NA T||| 1228 0.245208 0.3268 0.2464 5008 , , NA 16144 0.0962 NA 0.2793 False NA ,,, NA NA NA 2504 0.2526 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant 2p24.1 2014-06-17 2014-06-17 ENSG00000143970 ENSG00000143970 55252 23805 protein-coding gene gene with protein product 612991 additional sex combs like 2 (Drosophila) NA 12888926 Standard NM_018263 NM_018263 NA Approved ASXH2, FLJ10898, KIAA1685 uc002rgs.2 Q76L83 OTTHUMG00000152176 ENST00000435504.4:c.58-13780A>G chr2.hg19:g.26082212T>C NA Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67 hg19 0.02 -0.228106 TTAxAGC COVERED NOVEL ASXL2-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000325593.3 0 2.70767 KEEP 0 0 0 9 269 TT 0.99254 0.578582 0 - 12 60 452 0 0 43.131934 14 60 510 40 ENST00000435504.4 0.461538 0.58293 EPT1 85465 __UNKNOWN__ __UNKNOWN__ 2 26614090 26614090 __UNKNOWN__ 3'UTR SNP A A C rs141855332 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:26614090A>C ENST00000260585.7 + 0 3432 NM_033505.2 NP_277040.1 Q9C0D9 EPT1_HUMAN ethanolaminephosphotransferase 1 (CDP-ethanolamine-specific) NA NA glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) ethanolaminephosphotransferase activity (GO:0004307)|metal ion binding (GO:0046872) NA ATGATGCCATAGTCAGTTTTA 0.343 NA A||| 145 0.0289537 0.0008 0.0029 5008 , , NA 19493 0.0605 NA 0.0 False NA ,,, NA NA NA 2504 0.0828 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS46240.1 2p23.3 2012-03-01 ENSG00000138018 ENSG00000138018 85465 2.7.8.1 29361 protein-coding gene gene with protein product selenoprotein I 607915 NA 11214970, 17132865 Standard NM_033505.2 NM_033505 NA Approved KIAA1724, SELI, SEPI uc021veu.1 Q9C0D9 OTTHUMG00000151931 ENST00000260585.7:c.*2119A>C chr2.hg19:g.26614090A>C NA Q63ZE3 hg19 CCDS46240.1 0.02 9.183105 CATxGTC COVERED NOVEL EPT1-001 KNOWN basic|appris_principal|CCDS|seleno protein_coding NA protein_coding OTTHUMT00000324484.3 1 8.398822 KEEP 0 0 0 28 851 AA 0.999997 0.999997 0 + 12 60 440 0 0 29.682845 201 60 7397 286 ENST00000260585.7 0.056338 1 EPT1 85465 __UNKNOWN__ __UNKNOWN__ 2 26616624 26616624 __UNKNOWN__ 3'UTR SNP G G C rs3820937 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:26616624G>C ENST00000260585.7 + 0 5966 NM_033505.2 NP_277040.1 Q9C0D9 EPT1_HUMAN ethanolaminephosphotransferase 1 (CDP-ethanolamine-specific) NA NA glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) ethanolaminephosphotransferase activity (GO:0004307)|metal ion binding (GO:0046872) NA CCTTAATGCTGTGTTGAAATT 0.408 NA G||| 927 0.185104 0.0303 0.2579 5008 , , NA 17902 0.5605 NA 0.0726 False NA ,,, NA NA NA 2504 0.0716 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS46240.1 2p23.3 2012-03-01 ENSG00000138018 ENSG00000138018 85465 2.7.8.1 29361 protein-coding gene gene with protein product selenoprotein I 607915 NA 11214970, 17132865 Standard NM_033505.2 NM_033505 NA Approved KIAA1724, SELI, SEPI uc021veu.1 Q9C0D9 OTTHUMG00000151931 ENST00000260585.7:c.*4653G>C chr2.hg19:g.26616624G>C NA Q63ZE3 hg19 CCDS46240.1 0.02 6.613812 GCTxTGT COVERED NOVEL EPT1-001 KNOWN basic|appris_principal|CCDS|seleno protein_coding NA protein_coding OTTHUMT00000324484.3 0 9.926726 KEEP 0 0 0 33 1165 GG 0.999998 0.999998 0 + 6 60 227 0 0 14.027579 182 60 7018 277 ENST00000260585.7 0.031915 1 DRC1 92749 __UNKNOWN__ __UNKNOWN__ 2 26652400 26652400 __UNKNOWN__ Intron SNP A A G rs117442096 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:26652400A>G ENST00000288710.2 + 5 614 NM_145038.2 NP_659475.2 Q96MC2 DRC1_HUMAN dynein regulatory complex subunit 1 NA NA axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285) axoneme (GO:0005930)|cytoskeleton (GO:0005856) NA ATGTCCTAACATTGACAGATT 0.493 NA G||| 145 0.0289537 0.0 0.0 5008 , , NA 16362 0.0615 NA 0.0 False NA ,,, NA NA NA 2504 0.0849 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL833892 CCDS1723.1 2p23.3 2014-07-18 2014-07-18 2013-03-14 ENSG00000157856 ENSG00000157856 92749 24245 protein-coding gene gene with protein product 615288 chromosome 2 open reading frame 39, coiled-coil domain containing 164, dynein regulatory complex subunit 1 homolog (Chlamydomonas) C2orf39, CCDC164 NA 23354437 Standard NM_145038 NM_145038 NA Approved MGC16372, FLJ32660, CILD21 uc002rhg.2 Q96MC2 OTTHUMG00000125531 ENST00000288710.2:c.541-96A>G chr2.hg19:g.26652400A>G NA A8K1N8|Q53R91|Q53TA3|Q8NDI5 hg19 CCDS1723.1 0.02 4.102416 AACxTTG COVERED NOVEL DRC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000246862.1 0 6.017999 KEEP 0 0 0 20 638 AA 0.999863 0.999857 0 + 6 60 207 0 0 13.430852 105 60 3867 150 ENST00000288710.2 0.054054 0.999994 DRC1 92749 __UNKNOWN__ __UNKNOWN__ 2 26667128 26667128 __UNKNOWN__ Missense_Mutation SNP C C T rs78892546 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:26667128C>T ENST00000288710.2 + 9 1141 c.1067C>T c.(1066-1068)gCc>gTc p.A356V DRC1_ENST00000483675.1_3'UTR NM_145038.2 NP_659475.2 Q96MC2 DRC1_HUMAN dynein regulatory complex subunit 1 356 NA axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285) axoneme (GO:0005930)|cytoskeleton (GO:0005856) NA TCAAAATATGCCAAGCAAATA 0.408 NA C||| 166 0.033147 0.0121 0.0043 5008 , , NA 23689 0.0615 NA 0.001 False NA ,,, NA NA NA 2504 0.0859 NA NA NA NA 0 C VAL/ALA 45,4361 47.5+/-82.1 0,45,2158 111 101 105 1067 2.5 0.2 2 dbSNP_131 105 4,8596 3.7+/-12.6 0,4,4296 yes missense CCDC164 NM_145038.2 64 0,49,6454 TT,TC,CC 0.0465,1.0213,0.3767 benign 356/741 26667128 49,12957 2203 4300 6503 SO:0001583 missense AL833892 CCDS1723.1 2p23.3 2014-07-18 2014-07-18 2013-03-14 ENSG00000157856 ENSG00000157856 92749 24245 protein-coding gene gene with protein product 615288 chromosome 2 open reading frame 39, coiled-coil domain containing 164, dynein regulatory complex subunit 1 homolog (Chlamydomonas) C2orf39, CCDC164 NA 23354437 Standard NM_145038 NM_145038 NA Approved MGC16372, FLJ32660, CILD21 uc002rhg.2 Q96MC2 OTTHUMG00000125531 ENST00000288710.2:c.1067C>T chr2.hg19:g.26667128C>T ENSP00000288710:p.Ala356Val NA A8K1N8|Q53R91|Q53TA3|Q8NDI5 hg19 CCDS1723.1 0.02 14.122468 ATGxCAA COVERED 48 0.02197802197802198 5 0.01016260162601626 2 0.0055248618784530384 40 0.06993006993006994 1 0.0013192612137203166 C 16.10 3.027820 0.54790 0.010213 4.65E-4 ENSG00000157856 ENST00000288710 T 0.16897 2.31 5.39 2.55 0.30701 . 0.904574 0.09641 N 0.775021 T 0.01092 0.0036 L 0.51914 1.62 0.22468 N 0.999077 B 0.27910 0.193 B 0.29077 0.098 T 0.31943 -0.9925 10 0.30078 T 0.28 -0.3483 5.5768 0.17228 0.152:0.638:0.1313:0.0787 . 356 Q96MC2 CC164_HUMAN V 356 ENSP00000288710:A356V ENSP00000288710:A356V A + 2 0 CCDC164 26520632 0.101000 0.21875 0.249000 0.24280 0.996000 0.88848 0.345000 0.19979 0.309000 0.22966 0.650000 0.86243 GCC NOVEL DRC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000246862.1 1 9.330279 KEEP 0 0 0 31 1089 CC 0.999997 0.999997 0 + 10 60 361 0 0 21.12583 343 60 12749 459 ENST00000288710.2 0.028329 1 DRC1 92749 __UNKNOWN__ __UNKNOWN__ 2 26671163 26671163 __UNKNOWN__ Intron SNP G G A rs115148454 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:26671163G>A ENST00000288710.2 + 11 1470 NM_145038.2 NP_659475.2 Q96MC2 DRC1_HUMAN dynein regulatory complex subunit 1 NA NA axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285) axoneme (GO:0005930)|cytoskeleton (GO:0005856) NA ggctgcttctgtctaatctgt 0.428 NA A||| 335 0.066893 0.1339 0.0101 5008 , , NA 17231 0.0615 NA 0.003 False NA ,,, NA NA NA 2504 0.0879 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL833892 CCDS1723.1 2p23.3 2014-07-18 2014-07-18 2013-03-14 ENSG00000157856 ENSG00000157856 92749 24245 protein-coding gene gene with protein product 615288 chromosome 2 open reading frame 39, coiled-coil domain containing 164, dynein regulatory complex subunit 1 homolog (Chlamydomonas) C2orf39, CCDC164 NA 23354437 Standard NM_145038 NM_145038 NA Approved MGC16372, FLJ32660, CILD21 uc002rhg.2 Q96MC2 OTTHUMG00000125531 ENST00000288710.2:c.1397-396G>A chr2.hg19:g.26671163G>A NA A8K1N8|Q53R91|Q53TA3|Q8NDI5 hg19 CCDS1723.1 0.02 19.244692 TCTxTCT COVERED NOVEL DRC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000246862.1 16 22.568767 KEEP 0 0 0 75 2573 GG 1 1 0 + 15 70 468 0 0 26.015652 458 70 16855 702 ENST00000288710.2 0.031712 1 OTOF 9381 __UNKNOWN__ __UNKNOWN__ 2 26693967 26693967 __UNKNOWN__ Intron SNP C C T rs2272072 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:26693967C>T ENST00000272371.2 - 31 4021 OTOF_ENST00000402415.3_Intron|OTOF_ENST00000338581.6_Intron|OTOF_ENST00000339598.3_Intron|OTOF_ENST00000403946.3_Intron NM_194248.2 NP_919224.1 Q9HC10 OTOF_HUMAN otoferlin NA NA membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079) cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672) calcium ion binding (GO:0005509) NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCCCAGAGCCCCTGCATGGCC 0.612 NA C||| 1023 0.204273 0.025 0.2651 5008 , , NA 17911 0.5903 NA 0.0835 False NA ,,, NA NA NA 2504 0.1299 NA NA NA GBM(102;732 1451 20652 24062 31372) NA 0 C ,,, 139,4267 98.5+/-137.1 1,137,2065 124 121 122 ,,, -1 0 2 dbSNP_100 122 616,7984 161.1+/-214.1 24,568,3708 no intron,intron,intron,intron OTOF NM_004802.3,NM_194248.2,NM_194322.2,NM_194323.2 ,,, 25,705,5773 TT,TC,CC 7.1628,3.1548,5.805 ,,, ,,, 26693967 755,12251 2203 4300 6503 SO:0001627 intron_variant AF107403 CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1 2p23.1 2014-06-27 ENSG00000115155 ENSG00000115155 9381 8515 protein-coding gene gene with protein product fer-1-like family member 2 603681 DFNB9 NA 10192385, 18381613 Standard NM_194248 NA Approved FER1L2, DFNB6 uc002rhk.3 Q9HC10 OTTHUMG00000096977 ENST00000272371.2:c.3894+21G>A chr2.hg19:g.26693967C>T NA B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650 hg19 CCDS1725.1 0.02 11.235067 GCCxCTG COVERED NOVEL OTOF-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000214047.3 1 9.631685 KEEP 0 0 0 32 1159 CC 0.999997 0.999997 0 - 12 60 449 0 0 29.23502 262 60 9632 404 ENST00000272371.2 0.043796 1 OTOF 9381 __UNKNOWN__ __UNKNOWN__ 2 26699822 26699822 __UNKNOWN__ Silent SNP G G A rs2272068 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:26699822G>A ENST00000272371.2 - 22 2739 c.2613C>T c.(2611-2613)ctC>ctT p.L871L OTOF_ENST00000402415.3_Silent_p.L181L|OTOF_ENST00000338581.6_Silent_p.L124L|OTOF_ENST00000339598.3_Silent_p.L124L|OTOF_ENST00000403946.3_Silent_p.L871L NM_194248.2 NP_919224.1 Q9HC10 OTOF_HUMAN otoferlin 871 NA membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079) cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672) calcium ion binding (GO:0005509) NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CGATGGAGAAGAGCAGGTCCT 0.607 NA G||| 287 0.0573083 0.0492 0.036 5008 , , NA 7727 0.129 NA 0.0169 False NA ,,, NA NA NA 2504 0.0511 NA NA NA GBM(102;732 1451 20652 24062 31372) NA 0 G ,,, 244,4150 141.9+/-177.2 11,222,1964 76 62 67 372,2613,543,372 0.5 1 2 dbSNP_100 67 105,8483 56.4+/-117.6 1,103,4190 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous OTOF NM_004802.3,NM_194248.2,NM_194322.2,NM_194323.2 ,,, 12,325,6154 AA,AG,GG 1.2226,5.553,2.6883 ,,, 124/1231,871/1998,181/1308,124/1231 26699822 349,12633 2197 4294 6491 SO:0001819 synonymous_variant AF107403 CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1 2p23.1 2014-06-27 ENSG00000115155 ENSG00000115155 9381 8515 protein-coding gene gene with protein product fer-1-like family member 2 603681 DFNB9 NA 10192385, 18381613 Standard NM_194248 NA Approved FER1L2, DFNB6 uc002rhk.3 Q9HC10 OTTHUMG00000096977 ENST00000272371.2:c.2613C>T chr2.hg19:g.26699822G>A NA B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650 hg19 CCDS1725.1 0.02 1.919181 GAAxAGC COVERED NOVEL OTOF-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000214047.3 0 6.621756 KEEP 0 0 0 22 799 GG 0.999879 0.999835 0 - 4 60 153 0 0 9.935016 95 60 3611 157 ENST00000272371.2 0.040404 0.999956 DPYSL5 56896 __UNKNOWN__ __UNKNOWN__ 2 27171245 27171245 __UNKNOWN__ 3'UTR SNP C C T rs10181727 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:27171245C>T ENST00000288699.6 + 0 3235 NM_001253724.1|NM_020134.3 NP_001240653.1|NP_064519.2 Q9BPU6 DPYL5_HUMAN dihydropyrimidinase-like 5 NA NA axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)|signal transduction (GO:0007165) cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025) hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812) breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTCCCTGCTTCTAAAGCCCCA 0.612 NA C||| 1663 0.332069 0.267 0.4856 5008 , , NA 15885 0.2887 NA 0.3648 False NA ,,, NA NA NA 2504 0.3221 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF264015 CCDS1730.1 2p23.3 2008-02-05 ENSG00000157851 ENSG00000157851 56896 20637 protein-coding gene gene with protein product 608383 NA 10851247, 11034345 Standard NM_020134 NM_020134 NA Approved CRMP5, Ulip6, CRMP-5, CRAM uc002rhu.4 Q9BPU6 OTTHUMG00000097071 ENST00000288699.6:c.*1382C>T chr2.hg19:g.27171245C>T NA Q8TCL6|Q9NQC4|Q9NRY9 hg19 CCDS1730.1 0.02 8.248958 CTTxTAA COVERED NOVEL DPYSL5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000214187.2 1 10.534104 KEEP 0 0 0 35 1234 CC 0.999999 0.999999 0 + 8 60 286 0 0 17.548949 209 60 7963 304 ENST00000288699.6 0.036866 1 DPYSL5 56896 __UNKNOWN__ __UNKNOWN__ 2 27172069 27172069 __UNKNOWN__ 3'UTR SNP T T C rs1057115 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:27172069T>C ENST00000288699.6 + 0 4059 NM_001253724.1|NM_020134.3 NP_001240653.1|NP_064519.2 Q9BPU6 DPYL5_HUMAN dihydropyrimidinase-like 5 NA NA axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)|signal transduction (GO:0007165) cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025) hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812) breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGATTTTTTTTCTCATCTTTC 0.448 NA T||| 1665 0.332468 0.2678 0.4856 5008 , , NA 21107 0.2897 NA 0.3648 False NA ,,, NA NA NA 2504 0.3221 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF264015 CCDS1730.1 2p23.3 2008-02-05 ENSG00000157851 ENSG00000157851 56896 20637 protein-coding gene gene with protein product 608383 NA 10851247, 11034345 Standard NM_020134 NM_020134 NA Approved CRMP5, Ulip6, CRMP-5, CRAM uc002rhu.4 Q9BPU6 OTTHUMG00000097071 ENST00000288699.6:c.*2206T>C chr2.hg19:g.27172069T>C NA Q8TCL6|Q9NQC4|Q9NRY9 hg19 CCDS1730.1 0.02 14.007403 TTTxCTC COVERED NOVEL DPYSL5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000214187.2 3 9.629428 KEEP 0 0 0 32 1017 TT 0.999997 0.999997 0 + 10 60 386 0 0 24.194123 300 60 10697 391 ENST00000288699.6 0.032258 1 TMEM214 54867 __UNKNOWN__ __UNKNOWN__ 2 27263126 27263126 __UNKNOWN__ Intron SNP A A G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:27263126A>G ENST00000238788.9 + 15 1853 TMEM214_ENST00000404032.3_Intron NM_017727.4 NP_060197.4 Q6NUQ4 TM214_HUMAN transmembrane protein 214 NA NA apoptotic process (GO:0006915) cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2) 18 GAATTCTGGGAAAGGAGCAGC 0.532 NA NA NA NA NA NA NA NA NA NA NA 0 129 130 129 NA NA 2 NA 27263126 692 1591 2283 SO:0001627 intron_variant CCDS42664.1, CCDS46242.1 2p23.3 2013-06-19 ENSG00000119777 ENSG00000119777 54867 25983 protein-coding gene gene with protein product NA 23661706 Standard NM_017727 NM_001083590 NA Approved FLJ20254 uc002ria.4 Q6NUQ4 OTTHUMG00000151999 ENST00000238788.9:c.1791+60A>G chr2.hg19:g.27263126A>G NA A6NNF2|B3KUI9|B5MCD8|D6W547|Q53SW1|Q69YH4|Q8NC45|Q8WZ37|Q9NXH2 hg19 CCDS42664.1 0.02 15.341847 GGGxAAG COVERED NOVEL TMEM214-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000324748.1 1 17.151761 KEEP 0 0 0 57 1798 AA 1 1 0 + 12 60 430 0 0 25.895213 348 60 12240 472 ENST00000238788.9 0.033333 1 ABHD1 84696 __UNKNOWN__ __UNKNOWN__ 2 27351593 27351593 __UNKNOWN__ Intron SNP T T C rs3795960 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:27351593T>C ENST00000316470.4 + 2 389 NM_032604.3 NP_115993 Q96SE0 ABHD1_HUMAN abhydrolase domain containing 1 NA NA integral component of membrane (GO:0016021) carboxylic ester hydrolase activity (GO:0052689) endometrium(1)|kidney(1)|lung(3) 5 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCAATGACAATGGATGTTATA 0.408 NA T||| 64 0.0127796 0.0 0.0 5008 , , NA 23014 0.0635 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK093447 CCDS1736.1 2p23.3 2011-01-21 ENSG00000143994 ENSG00000143994 84696 Abhydrolase domain containing 17553 protein-coding gene gene with protein product 612195 NA 11922611 Standard NM_032604 NM_032604 NA Approved LABH1, FLJ36128 uc002rit.3 Q96SE0 OTTHUMG00000097072 ENST00000316470.4:c.275+124T>C chr2.hg19:g.27351593T>C NA B3KSF6|E9PDR9|Q05BY3|Q53SZ1|Q8IXQ7 hg19 CCDS1736.1 0.02 1.60182 CAAxGGA COVERED NOVEL ABHD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000214188.1 0 2.407361 KEEP 0 0 0 8 259 TT 0.99257 0.98769 0 + 4 60 128 0 0 8.133612 63 60 2242 76 ENST00000316470.4 0.059701 0.995084 CAD 790 __UNKNOWN__ __UNKNOWN__ 2 27445669 27445669 __UNKNOWN__ Intron SNP G G T rs78264879 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:27445669G>T ENST00000403525.1 + 6 781 CAD_ENST00000264705.4_Intron O76075 DFFB_HUMAN carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase NA NA apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921) cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899) NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 92 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGGCTGGGGGGGCTGCAGGTG 0.463 NA G||| 2 0.000399361 0.0008 0.0 5008 , , NA 19745 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D78586 CCDS1742.1 2p22-p21 2012-10-02 ENSG00000084774 ENSG00000084774 790 2.1.3.2, 3.5.2.- 1424 protein-coding gene gene with protein product 114010 NA 8619816, 2565865 Standard NM_004341 NA Approved uc002rji.3 P27708 OTTHUMG00000097070 ENST00000403525.1:c.638-65G>T chr2.hg19:g.27445669G>T NA O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6 hg19 0.02 3.385753 GGGxGCT COVERED NOVEL CAD-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000324970.1 1 5.417496 KEEP 0 0 0 18 629 GG 0.999859 0.999859 0 + 6 60 202 0 0 12.392601 130 60 4606 178 ENST00000403525.1 0.044118 1 AC109829.1 0 __UNKNOWN__ __UNKNOWN__ 2 27789861 27789861 __UNKNOWN__ Missense_Mutation SNP T T A rs965813 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:27789861T>A ENST00000447166.1 + 5 675 c.634T>A c.(634-636)Ttc>Atc p.F212I NA NA NA ATCCTCTGTGTTCAGGAACCA 0.438 NA T||| 1263 0.252196 0.2163 0.1326 5008 , , NA 18406 0.3383 NA 0.2167 False NA ,,, NA NA NA 2504 0.3333 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense NA NA NA NA ENST00000447166.1:c.634T>A chr2.hg19:g.27789861T>A ENSP00000403181:p.Phe212Ile NA hg19 0.02 21.858361 GTGxTCA COVERED 502 0.22985347985347984 135 0.27439024390243905 48 0.13259668508287292 168 0.2937062937062937 151 0.19920844327176782 T 3.707 -0.060284 0.07317 . . ENSG00000233438 ENST00000447166 . . . 5.48 -5.85 0.02311 . . . . . T 0.00012 0.0000 . . . . . . . . . . . . T 0.38714 -0.9648 4 0.87932 D 0 . 0.7679 0.01018 0.1487:0.2439:0.2266:0.3808 rs965813;rs965813 . . . I 212 . ENSP00000403181:F212I F + 1 0 AC109829.1 27643365 0.000000 0.05858 0.000000 0.03702 0.070000 0.16714 -0.802000 0.04545 -0.473000 0.06871 0.529000 0.55759 TTC NOVEL AC109829.1-001 PUTATIVE mRNA_end_NF|cds_end_NF|basic|appris_principal|exp_conf protein_coding NA protein_coding OTTHUMT00000324535.2 4 24.373021 KEEP 0 0 0 81 2551 TT 1 1 0 + 25 60 915 0 0 60.272362 478 60 17044 690 ENST00000447166.1 0.049702 1 C2orf16 84226 __UNKNOWN__ __UNKNOWN__ 2 27801403 27801403 __UNKNOWN__ Missense_Mutation SNP C C G rs1919125 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:27801403C>G ENST00000408964.2 + 1 2015 c.1964C>G c.(1963-1965)aCt>aGt p.T655S NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 655 NA T -> S (in dbSNP:rs1919125). extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) AGTCCATGTACTCAAGTGAAG 0.393 NA T||| 3303 0.659545 0.7368 0.6888 5008 , , NA 21823 0.8462 NA 0.498 False NA ,,, NA NA NA 2504 0.5082 NA NA NA NA 0 T SER/THR 2616,1152 902,812,170 97 95 95 1964 -0.7 0 2 dbSNP_92 95 4085,4151 1029,2027,1062 yes missense C2orf16 NM_032266.3 58 1931,2839,1232 GG,GC,CC 49.5993,30.5732,44.1769 benign 655/1985 27801403 6701,5303 1884 4118 6002 SO:0001583 missense AL136898 CCDS42666.1 2p23.3 2013-09-20 ENSG00000221843 ENSG00000221843 84226 25275 protein-coding gene gene with protein product P-S-E-R-S-H-H-S repeats containing NA Standard NM_032266 NM_032266 NA Approved DKFZp434G118 uc002rkz.4 Q68DN1 OTTHUMG00000159099 ENST00000408964.2:c.1964C>G chr2.hg19:g.27801403C>G ENSP00000386190:p.Thr655Ser NA B9EIQ4|Q53S01|Q8ND64|Q9H088 hg19 CCDS42666.1 0.02 18.16293 GTAxTCA COVERED 1448 0.663003663003663 359 0.7296747967479674 229 0.6325966850828729 490 0.8566433566433567 370 0.48812664907651715 T 0.082 -1.181599 0.01633 0.694268 0.495993 ENSG00000221843 ENST00000408964 T 0.05649 3.41 4.27 -0.677 0.11357 . . . . . T 0.00012 0.0000 N 0.12182 0.205 0.80722 P 0.0 B 0.06786 0.001 B 0.04013 0.001 T 0.12218 -1.0556 8 0.10377 T 0.69 . 5.683 0.17786 0.0:0.2722:0.5177:0.2101 rs1919125;rs17756208;rs60093522;rs1919125 655 Q68DN1 CB016_HUMAN S 655 ENSP00000386190:T655S ENSP00000386190:T655S T + 2 0 C2orf16 27654907 0.001000 0.12720 0.040000 0.18447 0.033000 0.12548 -0.497000 0.06428 -0.356000 0.08187 -1.482000 0.00985 ACT NOVEL C2orf16-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000353292.1 3 20.165866 KEEP 0 0 0 67 2410 CC 1 1 0 + 18 60 663 0 0 42.103493 431 60 16316 615 ENST00000408964.2 0.040089 1 C2orf16 84226 __UNKNOWN__ __UNKNOWN__ 2 27801418 27801418 __UNKNOWN__ Missense_Mutation SNP C C A rs1919126 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:27801418C>A ENST00000408964.2 + 1 2030 c.1979C>A c.(1978-1980)gCa>gAa p.A660E NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 660 NA A -> E (in dbSNP:rs1919126). extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) GTGAAGTCTGCAGAATTAACC 0.393 NA A||| 3303 0.659545 0.7368 0.6888 5008 , , NA 21677 0.8462 NA 0.498 False NA ,,, NA NA NA 2504 0.5082 NA NA NA NA 0 A GLU/ALA 2621,1157 901,819,169 97 94 95 1979 -3.1 0.6 2 dbSNP_92 95 4093,4147 1033,2027,1060 yes missense C2orf16 NM_032266.3 107 1934,2846,1229 AA,AC,CC 49.6723,30.6247,44.1338 benign 660/1985 27801418 6714,5304 1889 4120 6009 SO:0001583 missense AL136898 CCDS42666.1 2p23.3 2013-09-20 ENSG00000221843 ENSG00000221843 84226 25275 protein-coding gene gene with protein product P-S-E-R-S-H-H-S repeats containing NA Standard NM_032266 NM_032266 NA Approved DKFZp434G118 uc002rkz.4 Q68DN1 OTTHUMG00000159099 ENST00000408964.2:c.1979C>A chr2.hg19:g.27801418C>A ENSP00000386190:p.Ala660Glu NA B9EIQ4|Q53S01|Q8ND64|Q9H088 hg19 CCDS42666.1 0.02 16.684028 CTGxAGA COVERED 1446 0.6620879120879121 359 0.7296747967479674 228 0.6298342541436464 490 0.8566433566433567 369 0.4868073878627968 A 3.617 -0.078286 0.07184 0.693753 0.496723 ENSG00000221843 ENST00000408964 T 0.08807 3.05 4.83 -3.09 0.05331 . . . . . T 0.00012 0.0000 L 0.27053 0.805 0.58432 P 2.9999999999752447E-6 B 0.02656 0.0 B 0.04013 0.001 T 0.10064 -1.0646 8 0.33141 T 0.24 . 1.8543 0.03175 0.3285:0.3785:0.1261:0.1669 rs1919126;rs17705292;rs56730508;rs1919126 660 Q68DN1 CB016_HUMAN E 660 ENSP00000386190:A660E ENSP00000386190:A660E A + 2 0 C2orf16 27654922 0.755000 0.28372 0.604000 0.28916 0.421000 0.31385 -1.056000 0.03489 -1.023000 0.03342 -0.363000 0.07495 GCA NOVEL C2orf16-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000353292.1 2 19.56442 KEEP 0 0 0 65 2355 CC 1 1 0 + 23 60 800 0 0 51.80565 424 60 16165 611 ENST00000408964.2 0.051454 1 C2orf16 84226 __UNKNOWN__ __UNKNOWN__ 2 27802805 27802805 __UNKNOWN__ Silent SNP A A G rs3811644 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:27802805A>G ENST00000408964.2 + 1 3417 c.3366A>G c.(3364-3366)ctA>ctG p.L1122L NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 1122 NA extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) CTATCTGCCTACAGTGTGGCC 0.463 NA A||| 1025 0.204673 0.0499 0.111 5008 , , NA 20009 0.3383 NA 0.2137 False NA ,,, NA NA NA 2504 0.3333 NA NA NA NA 0 A 293,3591 6,281,1655 108 109 109 3366 2.5 1 2 dbSNP_107 109 1677,6613 169,1339,2637 no coding-synonymous C2orf16 NM_032266.3 175,1620,4292 GG,GA,AA 20.2292,7.5438,16.182 1122/1985 27802805 1970,10204 1942 4145 6087 SO:0001819 synonymous_variant AL136898 CCDS42666.1 2p23.3 2013-09-20 ENSG00000221843 ENSG00000221843 84226 25275 protein-coding gene gene with protein product P-S-E-R-S-H-H-S repeats containing NA Standard NM_032266 NM_032266 NA Approved DKFZp434G118 uc002rkz.4 Q68DN1 OTTHUMG00000159099 ENST00000408964.2:c.3366A>G chr2.hg19:g.27802805A>G NA B9EIQ4|Q53S01|Q8ND64|Q9H088 hg19 CCDS42666.1 0.02 11.319119 CCTxCAG COVERED NOVEL C2orf16-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000353292.1 1 12.937751 KEEP 0 0 0 43 1313 AA 1 1 0 + 18 60 667 0 0 47.101585 235 60 8331 360 ENST00000408964.2 0.071146 1 C2orf16 84226 __UNKNOWN__ __UNKNOWN__ 2 27804432 27804432 __UNKNOWN__ Missense_Mutation SNP T T C rs28381983 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:27804432T>C ENST00000408964.2 + 1 5044 c.4993T>C c.(4993-4995)Tcc>Ccc p.S1665P NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 1665 27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich. NA S -> P (in dbSNP:rs28381983). {ECO:0000269|PubMed:11230166, ECO:0000269|PubMed:17974005}. extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) CCATCGCAGTTCCTCTGAGAG 0.582 NA C||| 3478 0.694489 0.8502 0.7147 5008 , , NA 19630 0.8452 NA 0.506 False NA ,,, NA NA NA 2504 0.5082 NA NA NA NA 0 C PRO/SER 2957,853 1143,671,91 156 158 157 4993 -5.1 0 2 dbSNP_125 157 4132,4110 1057,2018,1046 no missense C2orf16 NM_032266.3 74 2200,2689,1137 CC,CT,TT 49.8665,22.3885,41.1799 benign 1665/1985 27804432 7089,4963 1905 4121 6026 SO:0001583 missense AL136898 CCDS42666.1 2p23.3 2013-09-20 ENSG00000221843 ENSG00000221843 84226 25275 protein-coding gene gene with protein product P-S-E-R-S-H-H-S repeats containing NA Standard NM_032266 NM_032266 NA Approved DKFZp434G118 uc002rkz.4 Q68DN1 OTTHUMG00000159099 ENST00000408964.2:c.4993T>C chr2.hg19:g.27804432T>C ENSP00000386190:p.Ser1665Pro NA B9EIQ4|Q53S01|Q8ND64|Q9H088 hg19 CCDS42666.1 0.02 9.307198 AGTxCCT COVERED 1518 0.695054945054945 405 0.823170731707317 239 0.6602209944751382 490 0.8566433566433567 384 0.5065963060686016 C 1.081 -0.667074 0.03428 0.776115 0.501335 ENSG00000221843 ENST00000408964 T 0.04809 3.55 3.71 -5.11 0.02901 . . . . . T 0.00012 0.0000 N 0.00801 -1.175 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.38693 -0.9649 8 0.02654 T 1 . 0.1883 0.00131 0.242:0.2449:0.2388:0.2743 rs28381983 1665 Q68DN1 CB016_HUMAN P 1665 ENSP00000386190:S1665P ENSP00000386190:S1665P S + 1 0 C2orf16 27657936 0.000000 0.05858 0.000000 0.03702 0.002000 0.02628 -2.659000 0.00852 -1.880000 0.01125 -0.642000 0.03964 TCC NOVEL C2orf16-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000353292.1 2 11.402749 KEEP 0 2 75 64 1964 TT 1 1 0 + 18 60 647 0 0 45.783861 215 60 7484 379 ENST00000408964.2 0.077253 1 ZNF512 84450 __UNKNOWN__ __UNKNOWN__ 2 27824168 27824168 __UNKNOWN__ Intron SNP G G C rs56725354 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:27824168G>C ENST00000355467.4 + 7 665 ZNF512_ENST00000416005.2_Intron|ZNF512_ENST00000413371.2_Intron|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000556601.1_Intron|ZNF512_ENST00000379717.1_Intron NM_001271287.1|NM_001271288.1|NM_001271289.1|NM_001271318.1|NM_032434.3 NP_001258216.1|NP_001258217.1|NP_001258218.1|NP_001258247.1|NP_115810.2 Q96ME7 ZN512_HUMAN zinc finger protein 512 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Acute lymphoblastic leukemia(172;0.155) CGGACTTCATGACATTCTGTT 0.383 NA g||| 1206 0.240815 0.1762 0.1282 5008 , , NA 18803 0.3383 NA 0.2157 False NA ,,, NA NA NA 2504 0.3333 NA NA NA NA 0 A 242,1142 18,206,468 161 128 138 -1.2 0 2 dbSNP_129 138 661,2521 65,531,995 no intron ZNF512 NM_032434.2 83,737,1463 CC,CG,GG 20.7731,17.4855,19.7766 27824168 903,3663 692 1591 2283 SO:0001627 intron_variant AL833748 CCDS1758.1, CCDS59428.1, CCDS59429.1 2p23 2008-02-05 ENSG00000243943 ENSG00000243943 84450 Zinc fingers, C2H2-type 29380 protein-coding gene gene with protein product NA 11347906 Standard NM_032434 NM_032434 NA Approved KIAA1805 uc002rla.4 Q96ME7 OTTHUMG00000097786 ENST00000355467.4:c.583-55G>C chr2.hg19:g.27824168G>C NA B4DSM5|Q53RZ7|Q86XK6|Q96JM0 hg19 CCDS1758.1 0.02 31.783789 CATxACA COVERED NOVEL ZNF512-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000215029.2 2 30.698529 KEEP 0 0 0 102 3559 GG 1 1 0 + 49 60 1865 0 0 133.105535 641 60 24800 970 ENST00000355467.4 0.071014 1 ZNF512 84450 __UNKNOWN__ __UNKNOWN__ 2 27838058 27838058 __UNKNOWN__ Silent SNP C C A rs11127071 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:27838058C>A ENST00000355467.4 + 11 1238 c.1155C>A c.(1153-1155)ctC>ctA p.L385L ZNF512_ENST00000416005.2_Silent_p.L356L|ZNF512_ENST00000413371.2_Silent_p.L308L|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000556601.1_Silent_p.L254L|ZNF512_ENST00000379717.1_Silent_p.L384L NM_001271287.1|NM_001271288.1|NM_001271289.1|NM_001271318.1|NM_032434.3 NP_001258216.1|NP_001258217.1|NP_001258218.1|NP_001258247.1|NP_115810.2 Q96ME7 ZN512_HUMAN zinc finger protein 512 385 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Acute lymphoblastic leukemia(172;0.155) GTCCAGGGCTCCCTACCTTCA 0.378 NA A||| 3269 0.652756 0.7148 0.6873 5008 , , NA 17541 0.8452 NA 0.497 False NA ,,, NA NA NA 2504 0.5061 NA NA NA NA 0 A 2965,1441 466.0+/-354.4 979,1007,217 176 168 170 1155 -6 0.4 2 dbSNP_120 170 4252,4348 581.1+/-391.2 1064,2124,1112 no coding-synonymous ZNF512 NM_032434.2 2043,3131,1329 AA,AC,CC 49.4419,32.7054,44.5102 385/568 27838058 7217,5789 2203 4300 6503 SO:0001819 synonymous_variant AL833748 CCDS1758.1, CCDS59428.1, CCDS59429.1 2p23 2008-02-05 ENSG00000243943 ENSG00000243943 84450 Zinc fingers, C2H2-type 29380 protein-coding gene gene with protein product NA 11347906 Standard NM_032434 NM_032434 NA Approved KIAA1805 uc002rla.4 Q96ME7 OTTHUMG00000097786 ENST00000355467.4:c.1155C>A chr2.hg19:g.27838058C>A NA B4DSM5|Q53RZ7|Q86XK6|Q96JM0 hg19 CCDS1758.1 0.02 13.187259 GCTxCCT COVERED NOVEL ZNF512-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000215029.2 1 24.07804 KEEP 0 0 0 80 2813 CC 1 1 0 + 19 60 683 0 0 46.595868 282 60 10457 469 ENST00000355467.4 0.063123 1 ZNF512 84450 __UNKNOWN__ __UNKNOWN__ 2 27839107 27839107 __UNKNOWN__ Intron SNP T T C rs6737921 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:27839107T>C ENST00000355467.4 + 12 1316 ZNF512_ENST00000416005.2_Intron|ZNF512_ENST00000413371.2_Intron|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000556601.1_Intron|ZNF512_ENST00000379717.1_Intron NM_001271287.1|NM_001271288.1|NM_001271289.1|NM_001271318.1|NM_032434.3 NP_001258216.1|NP_001258217.1|NP_001258218.1|NP_001258247.1|NP_115810.2 Q96ME7 ZN512_HUMAN zinc finger protein 512 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Acute lymphoblastic leukemia(172;0.155) ATAGTCTTCATACTATTTCTT 0.413 NA C||| 3269 0.652756 0.7148 0.6873 5008 , , NA 18974 0.8452 NA 0.497 False NA ,,, NA NA NA 2504 0.5061 NA NA NA NA 0 C 2966,1440 465.7+/-354.3 979,1008,216 147 137 141 1.5 0 2 dbSNP_116 141 4254,4346 580.9+/-391.1 1065,2124,1111 no intron ZNF512 NM_032434.2 2044,3132,1327 CC,CT,TT 49.4651,32.6827,44.4872 27839107 7220,5786 2203 4300 6503 SO:0001627 intron_variant AL833748 CCDS1758.1, CCDS59428.1, CCDS59429.1 2p23 2008-02-05 ENSG00000243943 ENSG00000243943 84450 Zinc fingers, C2H2-type 29380 protein-coding gene gene with protein product NA 11347906 Standard NM_032434 NM_032434 NA Approved KIAA1805 uc002rla.4 Q96ME7 OTTHUMG00000097786 ENST00000355467.4:c.1234-22T>C chr2.hg19:g.27839107T>C NA B4DSM5|Q53RZ7|Q86XK6|Q96JM0 hg19 CCDS1758.1 0.02 7.013032 TCAxACT COVERED NOVEL ZNF512-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000215029.2 0 7.691493 KEEP 0 2 67 49 1497 TT 1 1 0 + 12 60 433 0 0 29.651669 176 60 6467 288 ENST00000355467.4 0.06383 1 ZNF512 84450 __UNKNOWN__ __UNKNOWN__ 2 27844601 27844601 __UNKNOWN__ 3'UTR SNP T T G rs1881396 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:27844601T>G ENST00000355467.4 + 0 2060 ZNF512_ENST00000416005.2_3'UTR|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000556601.1_Intron|ZNF512_ENST00000379717.1_3'UTR NM_001271287.1|NM_001271288.1|NM_001271289.1|NM_001271318.1|NM_032434.3 NP_001258216.1|NP_001258217.1|NP_001258218.1|NP_001258247.1|NP_115810.2 Q96ME7 ZN512_HUMAN zinc finger protein 512 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Acute lymphoblastic leukemia(172;0.155) TATAGGCTCCTCTTGCCCTGT 0.453 NA T||| 1197 0.239018 0.1725 0.1268 5008 , , NA 17487 0.3323 NA 0.2197 False NA ,,, NA NA NA 2504 0.3323 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL833748 CCDS1758.1, CCDS59428.1, CCDS59429.1 2p23 2008-02-05 ENSG00000243943 ENSG00000243943 84450 Zinc fingers, C2H2-type 29380 protein-coding gene gene with protein product NA 11347906 Standard NM_032434 NM_032434 NA Approved KIAA1805 uc002rla.4 Q96ME7 OTTHUMG00000097786 ENST00000355467.4:c.*273T>G chr2.hg19:g.27844601T>G NA B4DSM5|Q53RZ7|Q86XK6|Q96JM0 hg19 CCDS1758.1 0.02 12.526615 TCCxCTT COVERED NOVEL ZNF512-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000215029.2 1 18.054702 KEEP 0 0 0 60 1913 TT 1 1 0 + 17 60 576 1 0 37.196824 291 60 10719 431 ENST00000355467.4 0.055195 1 ZNF512 84450 __UNKNOWN__ __UNKNOWN__ 2 27848397 27848397 __UNKNOWN__ Intron SNP A A G rs4665384 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:27848397A>G ENST00000556601.1 + 12 1388 RP11-158I13.2_ENST00000505973.1_RNA Q96ME7 ZN512_HUMAN zinc finger protein 512 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Acute lymphoblastic leukemia(172;0.155) CTAAAATCCTAATTTCTGCAT 0.318 NA A||| 3215 0.641973 0.649 0.6671 5008 , , NA 18609 0.9028 NA 0.4821 False NA ,,, NA NA NA 2504 0.5102 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL833748 CCDS1758.1, CCDS59428.1, CCDS59429.1 2p23 2008-02-05 ENSG00000243943 ENSG00000243943 84450 Zinc fingers, C2H2-type 29380 protein-coding gene gene with protein product NA 11347906 Standard NM_032434 NM_032434 NA Approved KIAA1805 uc002rla.4 Q96ME7 OTTHUMG00000097786 ENST00000556601.1:c.1112+4268A>G chr2.hg19:g.27848397A>G NA B4DSM5|Q53RZ7|Q86XK6|Q96JM0 hg19 0.02 2.057164 CCTxATT COVERED NOVEL ZNF512-203 KNOWN basic protein_coding NA protein_coding 1 2.405972 KEEP 0 0 0 8 229 AA 0.99257 0.990141 0 + 4 60 154 0 0 10.603774 68 60 2383 80 ENST00000556601.1 0.055556 0.997553 CCDC121 79635 __UNKNOWN__ __UNKNOWN__ 2 27848586 27848586 __UNKNOWN__ 3'UTR SNP A A C rs4666003 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:27848586A>C ENST00000324364.3 - 0 2261 RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000556601.1_Intron NM_024584.4 NP_078860.2 Q6ZUS5 CC121_HUMAN coiled-coil domain containing 121 NA NA breast(1)|endometrium(3)|large_intestine(2)|lung(6)|prostate(2) 14 Acute lymphoblastic leukemia(172;0.155) TGTTAAAGCTACAAGGTAAAG 0.259 NA A||| 3215 0.641973 0.649 0.6671 5008 , , NA 14241 0.9028 NA 0.4821 False NA ,,, NA NA NA 2504 0.5102 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK125354 CCDS1759.1, CCDS46247.1 2p23.2 2008-02-05 ENSG00000176714 ENSG00000176714 79635 25833 protein-coding gene gene with protein product NA Standard NM_024584 NM_024584 NA Approved FLJ43364, FLJ13646 uc002rld.3 Q6ZUS5 OTTHUMG00000128427 ENST00000324364.3:c.*1244T>G chr2.hg19:g.27848586A>C NA B3KW66|J3KQZ8|Q9H8G6 hg19 CCDS1759.1 0.02 23.184595 GCTxCAA COVERED NOVEL CCDC121-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000250215.1 2 36.709312 KEEP 0 0 0 122 3841 AA 1 1 0 - 26 60 957 0 0 63.48371 486 60 17595 828 ENST00000324364.3 0.050781 1 CCDC121 79635 __UNKNOWN__ __UNKNOWN__ 2 27849700 27849700 __UNKNOWN__ 3'UTR SNP C C T rs546976807 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:27849700C>T ENST00000324364.3 - 0 1147 RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000556601.1_Intron NM_024584.4 NP_078860.2 Q6ZUS5 CC121_HUMAN coiled-coil domain containing 121 NA NA breast(1)|endometrium(3)|large_intestine(2)|lung(6)|prostate(2) 14 Acute lymphoblastic leukemia(172;0.155) CCATCTAATCCTTCACTCCAA 0.368 NA C||| 1 0.000199681 0.0 0.0 5008 , , NA 20917 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK125354 CCDS1759.1, CCDS46247.1 2p23.2 2008-02-05 ENSG00000176714 ENSG00000176714 79635 25833 protein-coding gene gene with protein product NA Standard NM_024584 NM_024584 NA Approved FLJ43364, FLJ13646 uc002rld.3 Q6ZUS5 OTTHUMG00000128427 ENST00000324364.3:c.*130G>A chr2.hg19:g.27849700C>T NA B3KW66|J3KQZ8|Q9H8G6 hg19 CCDS1759.1 0.02 30.189824 ATCxTTC COVERED NOVEL CCDC121-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000250215.1 2 43.039673 KEEP 2 0 0 143 5091 CC 1 1 0 - 25 60 924 0 0 57.152725 698 60 26238 1044 ENST00000324364.3 0.034578 1 GPN1 11321 __UNKNOWN__ __UNKNOWN__ 2 27852118 27852118 __UNKNOWN__ Intron SNP A A C rs66672615|rs367603552|rs58737572 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:27852118A>C ENST00000610189.1 + 1 118 GPN1_ENST00000424214.1_Intron|GPN1_ENST00000503738.1_Intron|GPN1_ENST00000407583.3_Intron|GPN1_ENST00000461249.1_3'UTR|GPN1_ENST00000458167.2_Intron|RP11-158I13.2_ENST00000505973.1_RNA|GPN1_ENST00000264718.3_Intron|ZNF512_ENST00000556601.1_Intron|GPN1_ENST00000515877.1_Intron NM_007266.3 NP_009197.2 GPN-loop GTPase 1 NA NA endometrium(1)|large_intestine(1)|lung(12) 14 AAGGGAGGGAAGAGGATTTGG 0.562 NA G||| 3246 0.648163 0.6702 0.6671 5008 , , NA 14996 0.8958 NA 0.4831 False NA ,,, NA NA NA 2504 0.5194 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB044661 CCDS1760.2, CCDS46248.1, CCDS46249.1, CCDS46250.1 2p23.3 2011-11-04 2008-04-30 2008-04-30 ENSG00000198522 ENSG00000198522 11321 GPN-loop GTPases 17030 protein-coding gene gene with protein product RNA polymerase II associated protein 4 611479 XPA binding protein 1, XPA binding protein 1, GTPase XAB1 NA 11058119, 11124703 Standard NM_007266 NM_007266 NA Approved NTPBP, MBDIN, ATPBD1A, RPAP4 uc010ymc.2 Q9HCN4 OTTHUMG00000097784 ENST00000610189.1:c.111+82A>C chr2.hg19:g.27852118A>C NA hg19 0.02 9.216715 GGAxGAG COVERED NOVEL GPN1-010 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000473126.1 3 16.030563 KEEP 0 1 30 64 1873 AA 1 1 0 + 10 60 368 0 0 23.679829 222 60 7863 334 ENST00000610189.1 0.043103 1 GPN1 11321 __UNKNOWN__ __UNKNOWN__ 2 27852637 27852637 __UNKNOWN__ Intron SNP A A G rs6547738 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:27852637A>G ENST00000610189.1 + 2 118 GPN1_ENST00000424214.1_Intron|GPN1_ENST00000503738.1_Intron|GPN1_ENST00000407583.3_Intron|GPN1_ENST00000461249.1_Intron|GPN1_ENST00000458167.2_Intron|RP11-158I13.2_ENST00000505973.1_RNA|GPN1_ENST00000264718.3_Intron|ZNF512_ENST00000556601.1_Intron|GPN1_ENST00000515877.1_Intron NM_007266.3 NP_009197.2 GPN-loop GTPase 1 NA NA endometrium(1)|large_intestine(1)|lung(12) 14 TCTAAGTGCAATATTCTTAAG 0.433 NA A||| 3226 0.644169 0.649 0.67 5008 , , NA 20460 0.9028 NA 0.4831 False NA ,,, NA NA NA 2504 0.5184 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB044661 CCDS1760.2, CCDS46248.1, CCDS46249.1, CCDS46250.1 2p23.3 2011-11-04 2008-04-30 2008-04-30 ENSG00000198522 ENSG00000198522 11321 GPN-loop GTPases 17030 protein-coding gene gene with protein product RNA polymerase II associated protein 4 611479 XPA binding protein 1, XPA binding protein 1, GTPase XAB1 NA 11058119, 11124703 Standard NM_007266 NM_007266 NA Approved NTPBP, MBDIN, ATPBD1A, RPAP4 uc010ymc.2 Q9HCN4 OTTHUMG00000097784 ENST00000610189.1:c.112-89A>G chr2.hg19:g.27852637A>G NA hg19 0.02 13.431539 GCAxTAT COVERED NOVEL GPN1-010 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000473126.1 6 16.84987 KEEP 0 0 0 56 1804 AA 1 1 0 + 21 60 792 0 0 55.282933 309 60 11004 426 ENST00000610189.1 0.063636 1 GPN1 11321 __UNKNOWN__ __UNKNOWN__ 2 27855397 27855397 __UNKNOWN__ Intron SNP A A T rs10173720 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:27855397A>T ENST00000610189.1 + 5 319 GPN1_ENST00000424214.1_Intron|GPN1_ENST00000503738.1_Intron|GPN1_ENST00000407583.3_Intron|GPN1_ENST00000461249.1_Intron|GPN1_ENST00000458167.2_Intron|RP11-158I13.2_ENST00000505973.1_RNA|GPN1_ENST00000264718.3_Intron|ZNF512_ENST00000556601.1_Intron|GPN1_ENST00000515877.1_Intron NM_007266.3 NP_009197.2 GPN-loop GTPase 1 NA NA endometrium(1)|large_intestine(1)|lung(12) 14 TGATTGAGGGATTCAGTAGGT 0.423 NA A||| 1612 0.321885 0.1225 0.4251 5008 , , NA 20355 0.5813 NA 0.2237 False NA ,,, NA NA NA 2504 0.3517 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB044661 CCDS1760.2, CCDS46248.1, CCDS46249.1, CCDS46250.1 2p23.3 2011-11-04 2008-04-30 2008-04-30 ENSG00000198522 ENSG00000198522 11321 GPN-loop GTPases 17030 protein-coding gene gene with protein product RNA polymerase II associated protein 4 611479 XPA binding protein 1, XPA binding protein 1, GTPase XAB1 NA 11058119, 11124703 Standard NM_007266 NM_007266 NA Approved NTPBP, MBDIN, ATPBD1A, RPAP4 uc010ymc.2 Q9HCN4 OTTHUMG00000097784 ENST00000610189.1:c.313-103A>T chr2.hg19:g.27855397A>T NA hg19 0.02 4.283865 GGGxTTC COVERED NOVEL GPN1-010 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000473126.1 0 3.845377 KEEP 0 1 29 23 747 AA 0.999909 0.999909 0 + 13 60 455 0 0 33.094696 123 60 4341 190 ENST00000610189.1 0.095588 1 GPN1 11321 __UNKNOWN__ __UNKNOWN__ 2 27857992 27857992 __UNKNOWN__ Intron SNP T T A rs4666009 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:27857992T>A ENST00000610189.1 + 7 436 GPN1_ENST00000424214.1_Intron|GPN1_ENST00000503738.1_Intron|GPN1_ENST00000407583.3_Intron|GPN1_ENST00000461249.1_Intron|GPN1_ENST00000458167.2_Intron|RP11-158I13.2_ENST00000505973.1_RNA|GPN1_ENST00000264718.3_Intron|ZNF512_ENST00000556601.1_Intron|GPN1_ENST00000515877.1_Intron NM_007266.3 NP_009197.2 GPN-loop GTPase 1 NA NA endometrium(1)|large_intestine(1)|lung(12) 14 GGCTTTGATTTTTTTGTGGCT 0.453 NA A||| 3390 0.676917 0.7451 0.6945 5008 , , NA 20073 0.9028 NA 0.5 False NA ,,, NA NA NA 2504 0.5215 NA NA NA NA 0 A ,,, 3060,1346 447.5+/-348.4 1049,962,192 182 168 173 ,,, 0.2 0.7 2 dbSNP_111 173 4271,4329 579.7+/-390.9 1074,2123,1103 no intron,intron,intron,intron GPN1 NM_001145047.1,NM_001145048.1,NM_001145049.1,NM_007266.3 ,,, 2123,3085,1295 AA,AT,TT 49.6628,30.5493,43.6337 ,,, ,,, 27857992 7331,5675 2203 4300 6503 SO:0001627 intron_variant AB044661 CCDS1760.2, CCDS46248.1, CCDS46249.1, CCDS46250.1 2p23.3 2011-11-04 2008-04-30 2008-04-30 ENSG00000198522 ENSG00000198522 11321 GPN-loop GTPases 17030 protein-coding gene gene with protein product RNA polymerase II associated protein 4 611479 XPA binding protein 1, XPA binding protein 1, GTPase XAB1 NA 11058119, 11124703 Standard NM_007266 NM_007266 NA Approved NTPBP, MBDIN, ATPBD1A, RPAP4 uc010ymc.2 Q9HCN4 OTTHUMG00000097784 ENST00000610189.1:c.430-15T>A chr2.hg19:g.27857992T>A NA hg19 0.02 15.2392 ATTxTTT COVERED NOVEL GPN1-010 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000473126.1 3 24.37147 KEEP 0 0 0 81 2523 TT 1 1 0 + 25 60 876 0 0 59.409613 359 60 12844 545 ENST00000610189.1 0.065104 1 GPN1 11321 __UNKNOWN__ __UNKNOWN__ 2 27873326 27873326 __UNKNOWN__ 3'UTR SNP C C G rs8731 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:27873326C>G ENST00000610189.1 + 0 1391 GPN1_ENST00000424214.1_3'UTR|GPN1_ENST00000458167.2_3'UTR|GPN1_ENST00000264718.3_3'UTR NM_007266.3 NP_009197.2 GPN-loop GTPase 1 NA NA endometrium(1)|large_intestine(1)|lung(12) 14 AGCTGATACTCTTCCAAGCCT 0.428 NA C||| 1585 0.316494 0.118 0.4265 5008 , , NA 21744 0.5813 NA 0.2256 False NA ,,, NA NA NA 2504 0.3272 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB044661 CCDS1760.2, CCDS46248.1, CCDS46249.1, CCDS46250.1 2p23.3 2011-11-04 2008-04-30 2008-04-30 ENSG00000198522 ENSG00000198522 11321 GPN-loop GTPases 17030 protein-coding gene gene with protein product RNA polymerase II associated protein 4 611479 XPA binding protein 1, XPA binding protein 1, GTPase XAB1 NA 11058119, 11124703 Standard NM_007266 NM_007266 NA Approved NTPBP, MBDIN, ATPBD1A, RPAP4 uc010ymc.2 Q9HCN4 OTTHUMG00000097784 ENST00000610189.1:c.*259C>G chr2.hg19:g.27873326C>G NA hg19 0.02 6.311136 ACTxTTC COVERED NOVEL GPN1-010 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000473126.1 2 11.429241 KEEP 0 0 0 38 1295 CC 1 1 0 + 8 60 284 0 0 18.076107 169 60 6325 252 ENST00000610189.1 0.045198 1 AC074091.13 0 __UNKNOWN__ __UNKNOWN__ 2 27930837 27930837 __UNKNOWN__ Missense_Mutation SNP C C T rs4665385 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:27930837C>T ENST00000379677.2 - 2 675 c.196G>A c.(196-198)Ggg>Agg p.G66R NA NA NA ACCTGTCTCCCACCCTGGCTG 0.453 NA C||| 1330 0.265575 0.0106 0.3977 5008 , , NA 15764 0.5893 NA 0.1779 False NA ,,, NA NA NA 2504 0.273 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense NA NA NA NA ENST00000379677.2:c.196G>A chr2.hg19:g.27930837C>T ENSP00000368999:p.Gly66Arg NA hg19 0.02 6.933286 TCCxACC COVERED 578 0.26465201465201466 10 0.02032520325203252 111 0.30662983425414364 324 0.5664335664335665 133 0.17546174142480211 C 13.42 2.230956 0.39399 . . ENSG00000205334 ENST00000379677 . . . 4.22 2.44 0.29823 . . . . . T 0.00012 0.0000 . . . . . . P 0.46706 0.883 B 0.39805 0.31 T 0.46541 -0.9184 6 0.87932 D 0 -2.001 6.5146 0.22240 0.0:0.7855:0.0:0.2145 rs4665385;rs58033987;rs4665385 66 B7WNW1 . R 66 . ENSP00000368999:G66R G - 1 0 AC074091.13 27784341 0.996000 0.38824 0.964000 0.40570 0.913000 0.54294 0.700000 0.25601 0.721000 0.32231 0.650000 0.86243 GGG NOVEL AC074091.13-001 PUTATIVE basic|appris_principal|exp_conf protein_coding NA protein_coding OTTHUMT00000324558.1 2 37.006 KEEP 0 0 0 123 4033 CC 1 1 0 - 12 60 392 0 0 26.338001 151 60 5186 324 ENST00000379677.2 0.07362 1 BRE 9577 __UNKNOWN__ __UNKNOWN__ 2 28236120 28236120 __UNKNOWN__ Intron SNP C C T rs11127132 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:28236120C>T ENST00000342045.2 + 6 441 BRE_ENST00000379624.1_Intron|BRE_ENST00000344773.2_Intron|BRE_ENST00000361704.2_Intron|BRE_ENST00000379632.2_Intron|BRE_ENST00000603461.1_Intron NM_199194.2 NP_954664.1 brain and reproductive organ-expressed (TNFRSF1A modulator) NA NA NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2) 23 Acute lymphoblastic leukemia(172;0.155) ATTCTGACACCCTGGCACAAA 0.383 NA C||| 1259 0.251398 0.0151 0.3761 5008 , , NA 17692 0.6161 NA 0.1819 False NA ,,, NA NA NA 2504 0.1779 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF015767 CCDS1763.1, CCDS1764.1, CCDS1765.1 2p23 2008-02-05 ENSG00000158019 ENSG00000158019 9577 1106 protein-coding gene gene with protein product BRCA1/BRCA2-containing complex, subunit 4 610497 NA 9737713, 7826398 Standard NM_004899 NA Approved BRCC45, BRCC4 uc002rls.3 Q9NXR7 OTTHUMG00000097831 ENST00000342045.2:c.301-11973C>T chr2.hg19:g.28236120C>T NA hg19 CCDS1763.1 0.02 17.483651 CACxCTG COVERED NOVEL BRE-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000215114.1 2 21.649448 KEEP 0 0 0 72 2495 CC 1 1 0 + 24 60 921 0 0 65.029232 344 60 12513 537 ENST00000342045.2 0.065217 1 BRE 9577 __UNKNOWN__ __UNKNOWN__ 2 28561757 28561757 __UNKNOWN__ 3'UTR SNP C C T rs58720304|rs386644258|rs199930737 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:28561757C>T ENST00000342045.2 + 0 1670 BRE_ENST00000379624.1_3'UTR|BRE_ENST00000344773.2_3'UTR|BRE_ENST00000361704.2_3'UTR|BRE_ENST00000379632.2_3'UTR NM_199194.2 NP_954664.1 brain and reproductive organ-expressed (TNFRSF1A modulator) NA NA NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2) 23 Acute lymphoblastic leukemia(172;0.155) CCTCGCTGTTCTTCCTCTGAA 0.488 NA T||| 2407 0.480631 0.5877 0.4323 5008 , , NA 18187 0.621 NA 0.1561 False NA ,,, NA NA NA 2504 0.5593 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF015767 CCDS1763.1, CCDS1764.1, CCDS1765.1 2p23 2008-02-05 ENSG00000158019 ENSG00000158019 9577 1106 protein-coding gene gene with protein product BRCA1/BRCA2-containing complex, subunit 4 610497 NA 9737713, 7826398 Standard NM_004899 NA Approved BRCC45, BRCC4 uc002rls.3 Q9NXR7 OTTHUMG00000097831 ENST00000342045.2:c.*377C>T chr2.hg19:g.28561757C>T NA hg19 CCDS1763.1 0.02 3.760656 GTTxTTC COVERED NOVEL BRE-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000215114.1 0 27.691289 KEEP 0 0 0 92 3359 CC 1 1 0 + 7 60 250 0 0 16.081939 142 60 5387 327 ENST00000342045.2 0.04698 1 BRE 9577 __UNKNOWN__ __UNKNOWN__ 2 28561758 28561758 __UNKNOWN__ 3'UTR SNP T T C rs386644258|rs55977836 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:28561758T>C ENST00000342045.2 + 0 1671 BRE_ENST00000379624.1_3'UTR|BRE_ENST00000344773.2_3'UTR|BRE_ENST00000361704.2_3'UTR|BRE_ENST00000379632.2_3'UTR NM_199194.2 NP_954664.1 brain and reproductive organ-expressed (TNFRSF1A modulator) NA NA NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2) 23 Acute lymphoblastic leukemia(172;0.155) CTCGCTGTTCTTCCTCTGAAA 0.493 NA T||| 2207 0.440695 0.4834 0.4179 5008 , , NA 18305 0.5923 NA 0.1511 False NA ,,, NA NA NA 2504 0.5409 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF015767 CCDS1763.1, CCDS1764.1, CCDS1765.1 2p23 2008-02-05 ENSG00000158019 ENSG00000158019 9577 1106 protein-coding gene gene with protein product BRCA1/BRCA2-containing complex, subunit 4 610497 NA 9737713, 7826398 Standard NM_004899 NA Approved BRCC45, BRCC4 uc002rls.3 Q9NXR7 OTTHUMG00000097831 ENST00000342045.2:c.*378T>C chr2.hg19:g.28561758T>C NA hg19 CCDS1763.1 0.02 4.758658 TTCxTCC COVERED NOVEL BRE-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000215114.1 0 27.685384 KEEP 0 0 0 92 2994 TT 1 1 0 + 7 60 273 0 0 18.378581 142 60 5214 324 ENST00000342045.2 0.04698 1 WDR43 23160 __UNKNOWN__ __UNKNOWN__ 2 29129418 29129418 __UNKNOWN__ Silent SNP A A G rs11688605 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:29129418A>G ENST00000407426.3 + 3 512 c.456A>G c.(454-456)gaA>gaG p.E152E NM_015131.1 NP_055946.1 Q15061 WDR43_HUMAN WD repeat domain 43 152 NA nucleus (GO:0005634) poly(A) RNA binding (GO:0044822) breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 20 Acute lymphoblastic leukemia(172;0.155) ATATTGTGGAATGGAACGTAC 0.413 NA A||| 1860 0.371406 0.1732 0.4524 5008 , , NA 18995 0.7907 NA 0.2256 False NA ,,, NA NA NA 2504 0.2996 NA NA NA NA 0 A 717,3275 61,595,1340 92 90 91 456 -0.9 1 2 dbSNP_120 91 1849,6505 196,1457,2524 no coding-synonymous WDR43 NM_015131.1 257,2052,3864 GG,GA,AA 22.1331,17.9609,20.7841 152/678 29129418 2566,9780 1996 4177 6173 SO:0001819 synonymous_variant D87716 CCDS46251.1 2p23.3 2013-01-09 ENSG00000163811 ENSG00000163811 23160 WD repeat domain containing 28945 protein-coding gene gene with protein product UTP5, small subunit (SSU) processome component, homolog (yeast) NA 7584026, 7584028, 17699751 Standard XM_087089 NM_015131 NA Approved KIAA0007, NET12, UTP5 uc002rmo.2 Q15061 OTTHUMG00000152015 ENST00000407426.3:c.456A>G chr2.hg19:g.29129418A>G NA Q15395|Q92577 hg19 CCDS46251.1 0.02 16.804986 GGAxTGG COVERED NOVEL WDR43-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000324865.1 2 23.770038 KEEP 0 0 0 79 2443 AA 1 1 0 + 26 60 980 0 0 69.325308 351 60 13006 568 ENST00000407426.3 0.068966 1 WDR43 23160 __UNKNOWN__ __UNKNOWN__ 2 29136489 29136489 __UNKNOWN__ Intron SNP G G T rs4666132 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:29136489G>T ENST00000407426.3 + 5 662 NM_015131.1 NP_055946.1 Q15061 WDR43_HUMAN WD repeat domain 43 NA NA nucleus (GO:0005634) poly(A) RNA binding (GO:0044822) breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 20 Acute lymphoblastic leukemia(172;0.155) TATATTTTTGGAGGAGGAAAA 0.363 NA G||| 1891 0.377596 0.1967 0.4524 5008 , , NA 17520 0.7907 NA 0.2266 False NA ,,, NA NA NA 2504 0.2986 NA NA NA NA 0 G 377,1375 39,299,538 48 44 45 3.9 0 2 dbSNP_111 45 916,3066 93,730,1168 no intron WDR43 NM_015131.1 132,1029,1706 TT,TG,GG 23.0035,21.5183,22.5497 29136489 1293,4441 876 1991 2867 SO:0001627 intron_variant D87716 CCDS46251.1 2p23.3 2013-01-09 ENSG00000163811 ENSG00000163811 23160 WD repeat domain containing 28945 protein-coding gene gene with protein product UTP5, small subunit (SSU) processome component, homolog (yeast) NA 7584026, 7584028, 17699751 Standard XM_087089 NM_015131 NA Approved KIAA0007, NET12, UTP5 uc002rmo.2 Q15061 OTTHUMG00000152015 ENST00000407426.3:c.607-446G>T chr2.hg19:g.29136489G>T NA Q15395|Q92577 hg19 CCDS46251.1 0.02 10.304329 TTGxAGG COVERED NOVEL WDR43-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000324865.1 0 16.854895 KEEP 0 0 0 56 1970 GG 1 1 0 + 12 60 425 0 0 27.221184 243 60 8928 378 ENST00000407426.3 0.047059 1 WDR43 23160 __UNKNOWN__ __UNKNOWN__ 2 29136623 29136623 __UNKNOWN__ Intron SNP T T C rs4666133 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:29136623T>C ENST00000407426.3 + 5 662 NM_015131.1 NP_055946.1 Q15061 WDR43_HUMAN WD repeat domain 43 NA NA nucleus (GO:0005634) poly(A) RNA binding (GO:0044822) breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 20 Acute lymphoblastic leukemia(172;0.155) ACCCAAAGTATGCCTTTTAAA 0.388 NA C||| 1893 0.377995 0.1974 0.4524 5008 , , NA 16974 0.7907 NA 0.2276 False NA ,,, NA NA NA 2504 0.2986 NA NA NA NA 0 C 378,1374 39,300,537 95 83 86 2.1 0 2 dbSNP_111 86 916,3066 93,730,1168 no intron WDR43 NM_015131.1 132,1030,1705 CC,CT,TT 23.0035,21.5753,22.5671 29136623 1294,4440 876 1991 2867 SO:0001627 intron_variant D87716 CCDS46251.1 2p23.3 2013-01-09 ENSG00000163811 ENSG00000163811 23160 WD repeat domain containing 28945 protein-coding gene gene with protein product UTP5, small subunit (SSU) processome component, homolog (yeast) NA 7584026, 7584028, 17699751 Standard XM_087089 NM_015131 NA Approved KIAA0007, NET12, UTP5 uc002rmo.2 Q15061 OTTHUMG00000152015 ENST00000407426.3:c.607-312T>C chr2.hg19:g.29136623T>C NA Q15395|Q92577 hg19 CCDS46251.1 0.02 8.074677 GTAxGCC COVERED NOVEL WDR43-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000324865.1 1 16.548154 KEEP 0 0 0 55 1703 TT 1 1 0 + 8 60 282 0 0 16.854965 228 60 8359 332 ENST00000407426.3 0.033898 1 WDR43 23160 __UNKNOWN__ __UNKNOWN__ 2 29136653 29136653 __UNKNOWN__ Intron SNP T T C rs4666134 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:29136653T>C ENST00000407426.3 + 5 662 NM_015131.1 NP_055946.1 Q15061 WDR43_HUMAN WD repeat domain 43 NA NA nucleus (GO:0005634) poly(A) RNA binding (GO:0044822) breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 20 Acute lymphoblastic leukemia(172;0.155) ATTAAGTGAATCTTTAATTCA 0.368 NA T||| 1854 0.370208 0.171 0.4524 5008 , , NA 17057 0.7907 NA 0.2237 False NA ,,, NA NA NA 2504 0.2986 NA NA NA NA 0 T 346,1406 36,274,566 55 49 50 -2 0 2 dbSNP_111 50 909,3073 93,723,1175 no intron WDR43 NM_015131.1 129,997,1741 CC,CT,TT 22.8277,19.7489,21.887 29136653 1255,4479 876 1991 2867 SO:0001627 intron_variant D87716 CCDS46251.1 2p23.3 2013-01-09 ENSG00000163811 ENSG00000163811 23160 WD repeat domain containing 28945 protein-coding gene gene with protein product UTP5, small subunit (SSU) processome component, homolog (yeast) NA 7584026, 7584028, 17699751 Standard XM_087089 NM_015131 NA Approved KIAA0007, NET12, UTP5 uc002rmo.2 Q15061 OTTHUMG00000152015 ENST00000407426.3:c.607-282T>C chr2.hg19:g.29136653T>C NA Q15395|Q92577 hg19 CCDS46251.1 0.02 6.575316 GAAxCTT COVERED NOVEL WDR43-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000324865.1 0 10.532528 KEEP 0 0 0 35 1137 TT 0.999999 0.999999 0 + 6 60 225 0 0 13.958014 173 60 6200 236 ENST00000407426.3 0.03352 1 WDR43 23160 __UNKNOWN__ __UNKNOWN__ 2 29140711 29140711 __UNKNOWN__ Intron SNP G G A rs4389288 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:29140711G>A ENST00000407426.3 + 6 802 NM_015131.1 NP_055946.1 Q15061 WDR43_HUMAN WD repeat domain 43 NA NA nucleus (GO:0005634) poly(A) RNA binding (GO:0044822) breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 20 Acute lymphoblastic leukemia(172;0.155) TTTTTAGGAAGAAAATTAAAT 0.368 NA A||| 1894 0.378195 0.1974 0.4524 5008 , , NA 19958 0.7907 NA 0.2266 False NA ,,, NA NA NA 2504 0.3006 NA NA NA NA 0 A 697,3053 66,565,1244 26 25 26 0.8 0 2 dbSNP_111 26 1716,6422 194,1328,2547 no intron WDR43 NM_015131.1 260,1893,3791 AA,AG,GG 21.0863,18.5867,20.2978 29140711 2413,9475 1875 4069 5944 SO:0001627 intron_variant D87716 CCDS46251.1 2p23.3 2013-01-09 ENSG00000163811 ENSG00000163811 23160 WD repeat domain containing 28945 protein-coding gene gene with protein product UTP5, small subunit (SSU) processome component, homolog (yeast) NA 7584026, 7584028, 17699751 Standard XM_087089 NM_015131 NA Approved KIAA0007, NET12, UTP5 uc002rmo.2 Q15061 OTTHUMG00000152015 ENST00000407426.3:c.747-48G>A chr2.hg19:g.29140711G>A NA Q15395|Q92577 hg19 CCDS46251.1 0.02 13.091246 GAAxAAA COVERED NOVEL WDR43-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000324865.1 2 24.680941 KEEP 0 0 0 82 2967 GG 1 1 0 + 17 60 609 0 0 39.597909 329 60 12674 535 ENST00000407426.3 0.049133 1 WDR43 23160 __UNKNOWN__ __UNKNOWN__ 2 29152376 29152376 __UNKNOWN__ Intron SNP A A T rs373812740|rs569646059|rs11685826 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:29152376A>T ENST00000407426.3 + 11 1361 NM_015131.1 NP_055946.1 Q15061 WDR43_HUMAN WD repeat domain 43 NA NA nucleus (GO:0005634) poly(A) RNA binding (GO:0044822) breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 20 Acute lymphoblastic leukemia(172;0.155) attttattttattttttttGT 0.323 NA A||| 1573 0.314097 0.1664 0.3919 5008 , , NA 14663 0.6776 NA 0.1501 False NA ,,, NA NA NA 2504 0.2526 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D87716 CCDS46251.1 2p23.3 2013-01-09 ENSG00000163811 ENSG00000163811 23160 WD repeat domain containing 28945 protein-coding gene gene with protein product UTP5, small subunit (SSU) processome component, homolog (yeast) NA 7584026, 7584028, 17699751 Standard XM_087089 NM_015131 NA Approved KIAA0007, NET12, UTP5 uc002rmo.2 Q15061 OTTHUMG00000152015 ENST00000407426.3:c.1306-69A>T chr2.hg19:g.29152376A>T NA Q15395|Q92577 hg19 CCDS46251.1 0.02 1.872925 TTTxTTT COVERED NOVEL WDR43-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000324865.1 1 3.008646 KEEP 0 0 0 10 300 AA 0.992708 0.992603 0 + 4 60 141 1 2 8.887936 87 60 2976 108 ENST00000407426.3 0.043956 0.999895 WDR43 23160 __UNKNOWN__ __UNKNOWN__ 2 29170623 29170623 __UNKNOWN__ 3'UTR SNP G G T rs11680458 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:29170623G>T ENST00000407426.3 + 0 3068 NM_015131.1 NP_055946.1 Q15061 WDR43_HUMAN WD repeat domain 43 NA NA nucleus (GO:0005634) poly(A) RNA binding (GO:0044822) breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 20 Acute lymphoblastic leukemia(172;0.155) TCTTGGCAGTGTTAGGGTATC 0.254 NA G||| 1852 0.369808 0.1679 0.4524 5008 , , NA 12132 0.7897 NA 0.2247 False NA ,,, NA NA NA 2504 0.3006 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D87716 CCDS46251.1 2p23.3 2013-01-09 ENSG00000163811 ENSG00000163811 23160 WD repeat domain containing 28945 protein-coding gene gene with protein product UTP5, small subunit (SSU) processome component, homolog (yeast) NA 7584026, 7584028, 17699751 Standard XM_087089 NM_015131 NA Approved KIAA0007, NET12, UTP5 uc002rmo.2 Q15061 OTTHUMG00000152015 ENST00000407426.3:c.*978G>T chr2.hg19:g.29170623G>T NA Q15395|Q92577 hg19 CCDS46251.1 0.02 -0.236877 AGTxTTA COVERED NOVEL WDR43-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000324865.1 0 2.708943 KEEP 0 0 0 9 328 GG 0.99254 0.607839 0 + 6 60 215 0 0 18.151729 21 60 791 41 ENST00000407426.3 0.222222 0.612407 FAM179A 165186 __UNKNOWN__ __UNKNOWN__ 2 29222070 29222070 __UNKNOWN__ Missense_Mutation SNP G G A rs13009279 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:29222070G>A ENST00000379558.4 + 4 514 c.163G>A c.(163-165)Gcc>Acc p.A55T FAM179A_ENST00000403861.2_Missense_Mutation_p.A55T NM_199280.2 NP_954974.2 Q6ZUX3 F179A_HUMAN family with sequence similarity 179, member A 55 NA A -> T (in dbSNP:rs13009279). breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 TGAGCCAAGAGCCCTGCTGAA 0.617 NA G||| 1645 0.328474 0.2337 0.281 5008 , , NA 19748 0.627 NA 0.2813 False NA ,,, NA NA NA 2504 0.2311 NA NA NA NA 0 G THR/ALA 981,3273 112,757,1258 37 41 40 163 -0.1 0 2 dbSNP_121 40 2284,6178 318,1648,2265 yes missense FAM179A NM_199280.2 58 430,2405,3523 AA,AG,GG 26.9913,23.0606,25.6763 benign 55/1020 29222070 3265,9451 2127 4231 6358 SO:0001583 missense AK125239, AK125744 CCDS1769.2 2p23.2 2008-10-30 ENSG00000189350 ENSG00000189350 165186 33715 protein-coding gene gene with protein product NA 16344560 Standard NM_199280 NM_199280 NA Approved FLJ43249, LOC165186 uc010ezl.3 Q6ZUX3 OTTHUMG00000128432 ENST00000379558.4:c.163G>A chr2.hg19:g.29222070G>A ENSP00000368876:p.Ala55Thr NA Q6ZUF5 hg19 CCDS1769.2 0.02 2.082448 AGAxCCC COVERED 752 0.3443223443223443 107 0.21747967479674796 95 0.26243093922651933 334 0.583916083916084 216 0.2849604221635884 G 7.400 0.632493 0.14322 0.230606 0.269913 ENSG00000189350 ENST00000420297;ENST00000379558;ENST00000403861 T;T;T 0.44881 0.91;3.16;3.01 5.31 -0.0693 0.13752 . . . . . T 0.00012 0.0000 N 0.08118 0 0.80722 P 0.0 B;B 0.02656 0.0;0.0 B;B 0.04013 0.001;0.0 T 0.45381 -0.9265 8 0.41790 T 0.15 . 9.9487 0.41626 0.3511:0.0:0.6489:0.0 rs13009279;rs13009279 55;55 F8W8E4;Q6ZUX3 .;F179A_HUMAN T 55 ENSP00000402415:A55T;ENSP00000368876:A55T;ENSP00000384699:A55T ENSP00000368876:A55T A + 1 0 FAM179A 29075574 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -0.377000 0.07456 -0.323000 0.08602 -1.303000 0.01326 GCC NOVEL FAM179A-003 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000317848.4 3 4.815934 KEEP 0 0 0 16 586 GG 0.997832 0.994072 0 + 9 60 295 0 0 22.20152 60 60 2337 108 ENST00000379558.4 0.130435 0.996233 FAM179A 165186 __UNKNOWN__ __UNKNOWN__ 2 29222388 29222388 __UNKNOWN__ Intron SNP G G C rs57018089 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:29222388G>C ENST00000379558.4 + 4 778 FAM179A_ENST00000403861.2_Intron NM_199280.2 NP_954974.2 Q6ZUX3 F179A_HUMAN family with sequence similarity 179, member A NA NA breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 GTCAAGGGCCGCAGGCCTCCA 0.637 NA C||| 2600 0.519169 0.6815 0.3833 5008 , , NA 16539 0.7907 NA 0.3479 False NA ,,, NA NA NA 2504 0.2924 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK125239, AK125744 CCDS1769.2 2p23.2 2008-10-30 ENSG00000189350 ENSG00000189350 165186 33715 protein-coding gene gene with protein product NA 16344560 Standard NM_199280 NM_199280 NA Approved FLJ43249, LOC165186 uc010ezl.3 Q6ZUX3 OTTHUMG00000128432 ENST00000379558.4:c.427+54G>C chr2.hg19:g.29222388G>C NA Q6ZUF5 hg19 CCDS1769.2 0.02 2.141752 GCCxCAG COVERED NOVEL FAM179A-003 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000317848.4 0 5.417396 KEEP 0 0 0 18 620 GG 0.999859 0.999481 0 + 6 60 225 0 0 15.945818 79 60 2929 116 ENST00000379558.4 0.070588 0.999622 FAM179A 165186 __UNKNOWN__ __UNKNOWN__ 2 29239942 29239942 __UNKNOWN__ Intron SNP T T G rs11685375 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:29239942T>G ENST00000379558.4 + 9 1395 FAM179A_ENST00000465300.1_Intron|FAM179A_ENST00000403861.2_Intron NM_199280.2 NP_954974.2 Q6ZUX3 F179A_HUMAN family with sequence similarity 179, member A NA NA breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 tggcacacagtagaaacattt 0.418 NA G||| 1051 0.209864 0.2564 0.1859 5008 , , NA 19655 0.1567 NA 0.2485 False NA ,,, NA NA NA 2504 0.1789 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK125239, AK125744 CCDS1769.2 2p23.2 2008-10-30 ENSG00000189350 ENSG00000189350 165186 33715 protein-coding gene gene with protein product NA 16344560 Standard NM_199280 NM_199280 NA Approved FLJ43249, LOC165186 uc010ezl.3 Q6ZUX3 OTTHUMG00000128432 ENST00000379558.4:c.1045-78T>G chr2.hg19:g.29239942T>G NA Q6ZUF5 hg19 CCDS1769.2 0.02 10.568281 CAGxAGA COVERED NOVEL FAM179A-003 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000317848.4 2 18.351275 KEEP 0 0 0 61 1869 TT 1 1 0 + 12 60 437 0 0 28.335395 247 60 8649 383 ENST00000379558.4 0.046332 1 FAM179A 165186 __UNKNOWN__ __UNKNOWN__ 2 29240060 29240060 __UNKNOWN__ Missense_Mutation SNP A A G rs11127202 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:29240060A>G ENST00000379558.4 + 9 1436 c.1085A>G c.(1084-1086)cAg>cGg p.Q362R FAM179A_ENST00000465300.1_Intron|FAM179A_ENST00000403861.2_Missense_Mutation_p.Q362R NM_199280.2 NP_954974.2 Q6ZUX3 F179A_HUMAN family with sequence similarity 179, member A 362 NA Q -> R (in dbSNP:rs11127202). breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 GAGAAGATGCAGCTGAAGCAG 0.542 NA G||| 1065 0.21266 0.267 0.1859 5008 , , NA 16571 0.1567 NA 0.2485 False NA ,,, NA NA NA 2504 0.1789 NA NA NA NA 0 G ARG/GLN 920,3124 106,708,1208 108 112 110 1085 3.8 1 2 dbSNP_120 110 1979,6397 243,1493,2452 yes missense FAM179A NM_199280.2 43 349,2201,3660 GG,GA,AA 23.627,22.7498,23.3414 benign 362/1020 29240060 2899,9521 2022 4188 6210 SO:0001583 missense AK125239, AK125744 CCDS1769.2 2p23.2 2008-10-30 ENSG00000189350 ENSG00000189350 165186 33715 protein-coding gene gene with protein product NA 16344560 Standard NM_199280 NM_199280 NA Approved FLJ43249, LOC165186 uc010ezl.3 Q6ZUX3 OTTHUMG00000128432 ENST00000379558.4:c.1085A>G chr2.hg19:g.29240060A>G ENSP00000368876:p.Gln362Arg NA Q6ZUF5 hg19 CCDS1769.2 0.02 13.616395 TGCxGCT COVERED 463 0.211996336996337 126 0.25609756097560976 69 0.19060773480662985 80 0.13986013986013987 188 0.24802110817941952 G 0.634 -0.815920 0.02776 0.227498 0.23627 ENSG00000189350 ENST00000379558;ENST00000403861 T;T 0.14766 3.73;2.48 4.75 3.85 0.44370 . . . . . T 0.00012 0.0000 N 0.01048 -1.04 0.80722 P 0.0 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.44544 -0.9321 8 0.02654 T 1 . 10.3911 0.44168 0.1669:0.0:0.8331:0.0 rs11127202;rs59508471;rs11127202 362;362 F8W8E4;Q6ZUX3 .;F179A_HUMAN R 362 ENSP00000368876:Q362R;ENSP00000384699:Q362R ENSP00000368876:Q362R Q + 2 0 FAM179A 29093564 1.000000 0.71417 0.999000 0.59377 0.396000 0.30629 1.748000 0.38308 0.510000 0.28216 -0.186000 0.12905 CAG NOVEL FAM179A-003 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000317848.4 0 18.053968 KEEP 0 0 0 60 1899 AA 1 1 0 + 13 60 478 0 0 30.636997 294 60 11024 457 ENST00000379558.4 0.042345 1 FAM179A 165186 __UNKNOWN__ __UNKNOWN__ 2 29240582 29240582 __UNKNOWN__ Intron SNP T T C rs66482868 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:29240582T>C ENST00000379558.4 + 10 1546 FAM179A_ENST00000465300.1_Intron|FAM179A_ENST00000403861.2_Intron NM_199280.2 NP_954974.2 Q6ZUX3 F179A_HUMAN family with sequence similarity 179, member A NA NA breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 cagccATGGGTCCATTTTCAA 0.587 NA C||| 1049 0.209465 0.2549 0.1859 5008 , , NA 17156 0.1567 NA 0.2485 False NA ,,, NA NA NA 2504 0.1789 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK125239, AK125744 CCDS1769.2 2p23.2 2008-10-30 ENSG00000189350 ENSG00000189350 165186 33715 protein-coding gene gene with protein product NA 16344560 Standard NM_199280 NM_199280 NA Approved FLJ43249, LOC165186 uc010ezl.3 Q6ZUX3 OTTHUMG00000128432 ENST00000379558.4:c.1196-76T>C chr2.hg19:g.29240582T>C NA Q6ZUF5 hg19 CCDS1769.2 0.02 1.824886 GGGxCCA COVERED NOVEL FAM179A-003 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000317848.4 0 6.316921 KEEP 0 0 0 21 613 TT 0.999879 0.999605 0 + 4 60 144 0 0 9.265342 83 60 2809 125 ENST00000379558.4 0.045977 0.999726 FAM179A 165186 __UNKNOWN__ __UNKNOWN__ 2 29240673 29240673 __UNKNOWN__ Missense_Mutation SNP G G A rs35166194 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:29240673G>A ENST00000379558.4 + 10 1562 c.1211G>A c.(1210-1212)cGg>cAg p.R404Q FAM179A_ENST00000465300.1_Intron|FAM179A_ENST00000403861.2_Intron NM_199280.2 NP_954974.2 Q6ZUX3 F179A_HUMAN family with sequence similarity 179, member A 404 NA breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 CTTCCCCTCCGGGGCAGCGGG 0.612 NA G||| 1030 0.205671 0.2413 0.1859 5008 , , NA 20368 0.1567 NA 0.2485 False NA ,,, NA NA NA 2504 0.1779 NA NA NA NA 0 G GLN/ARG 858,3198 92,674,1262 27 31 30 1211 3.3 1 2 dbSNP_126 30 1952,6390 240,1472,2459 yes missense FAM179A NM_199280.2 43 332,2146,3721 AA,AG,GG 23.3997,21.1538,22.6649 probably-damaging 404/1020 29240673 2810,9588 2028 4171 6199 SO:0001583 missense AK125239, AK125744 CCDS1769.2 2p23.2 2008-10-30 ENSG00000189350 ENSG00000189350 165186 33715 protein-coding gene gene with protein product NA 16344560 Standard NM_199280 NM_199280 NA Approved FLJ43249, LOC165186 uc010ezl.3 Q6ZUX3 OTTHUMG00000128432 ENST00000379558.4:c.1211G>A chr2.hg19:g.29240673G>A ENSP00000368876:p.Arg404Gln NA Q6ZUF5 hg19 CCDS1769.2 0.02 6.605068 TCCxGGG COVERED 454 0.2078754578754579 114 0.23170731707317074 70 0.19337016574585636 80 0.13986013986013987 190 0.25065963060686014 G 9.972 1.225871 0.22542 0.211538 0.233997 ENSG00000189350 ENST00000379558 T 0.09538 2.97 4.18 3.29 0.37713 . . . . . T 0.00012 0.0000 L 0.29908 0.895 0.53688 P 2.8999999999945736E-5 P 0.47253 0.892 B 0.35182 0.197 T 0.48163 -0.9059 8 0.39692 T 0.17 . 3.4568 0.07518 0.1891:0.2611:0.5498:0.0 rs35166194 404 Q6ZUX3 F179A_HUMAN Q 404 ENSP00000368876:R404Q ENSP00000368876:R404Q R + 2 0 FAM179A 29094177 0.258000 0.24033 0.956000 0.39512 0.038000 0.13279 1.692000 0.37731 2.312000 0.78011 0.563000 0.77884 CGG NOVEL FAM179A-003 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000317848.4 1 24.076001 KEEP 0 0 0 80 2718 GG 1 1 0 + 6 60 231 0 0 14.413051 183 60 6391 343 ENST00000379558.4 0.031746 1 ALK 238 __UNKNOWN__ __UNKNOWN__ 2 29416366 29416366 __UNKNOWN__ Missense_Mutation SNP G G C rs1881421 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:29416366G>C ENST00000389048.3 - 29 5493 c.4587C>G c.(4585-4587)gaC>gaG p.D1529E ALK_ENST00000431873.1_Missense_Mutation_p.D359E NM_004304.4 NP_004295.2 Q9UM73 ALK_HUMAN anaplastic lymphoma receptor tyrosine kinase 1529 NA D -> E (in dbSNP:rs1881421). {ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:9053841, ECO:0000269|Ref.4}. activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234) ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714) ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171)|Crizotinib(DB08865) GGTTACCCCTGTCGTGTGGCT 0.547 NA T, Mis, A NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22 ALCL, NSCLC, Neuroblastoma neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome C||| 2869 0.572883 0.643 0.5706 5008 , , NA 17724 0.7292 NA 0.3837 False NA ,,, NA NA NA 2504 0.5133 NA NA NA yes Dom yes Familial neuroblastoma 2 2p23 238 anaplastic lymphoma kinase (Ki-1) L, E, M 0 C GLU/ASP 2681,1725 517.7+/-369.5 834,1013,356 180 196 191 4587 -3.4 0 2 dbSNP_92 191 2957,5643 667.4+/-402.5 508,1941,1851 yes missense ALK NM_004304.4 45 1342,2954,2207 CC,CG,GG 34.3837,39.1512,43.3492 benign 1529/1621 29416366 5638,7368 2203 4300 6503 SO:0001583 missense Familial Cancer Database Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease D45915 CCDS33172.1 2p23 2014-09-17 2008-01-23 ENSG00000171094 ENSG00000171094 238 CD molecules 427 protein-coding gene gene with protein product 105590 anaplastic lymphoma kinase (Ki-1) NA 8122112 Standard NM_004304 NM_004304 NA Approved CD246 uc002rmy.3 Q9UM73 OTTHUMG00000152034 ENST00000389048.3:c.4587C>G chr2.hg19:g.29416366G>C ENSP00000373700:p.Asp1529Glu NA Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6 hg19 CCDS33172.1 0.02 14.604331 CCTxTCG COVERED 1235 0.5654761904761905 327 0.6646341463414634 191 0.5276243093922652 415 0.7255244755244755 302 0.39841688654353563 C 2.203 -0.382484 0.04966 0.608488 0.343837 ENSG00000171094 ENST00000389048;ENST00000431873 T;T 0.26957 1.7;1.7 5.11 -3.42 0.04825 . 0.428474 0.19238 N 0.119246 T 0.00012 0.0000 N 0.00246 -1.78 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.31861 -0.9928 9 0.02654 T 1 . 11.8015 0.52130 0.0:0.2641:0.5636:0.1723 rs1881421;rs3738872;rs17007643;rs52821197;rs60882094;rs1881421 1529 Q9UM73 ALK_HUMAN E 1529;359 ENSP00000373700:D1529E;ENSP00000414027:D359E ENSP00000373700:D1529E D - 3 2 ALK 29269870 0.000000 0.05858 0.000000 0.03702 0.047000 0.14425 -0.022000 0.12480 -1.464000 0.01902 -0.357000 0.07601 GAC NOVEL ALK-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000324994.1 2 17.454957 KEEP 0 0 0 58 2030 GG 1 1 0 - 16 60 627 0 0 42.491531 316 60 11717 459 ENST00000389048.3 0.048193 1 ALK 238 __UNKNOWN__ __UNKNOWN__ 2 29416481 29416481 __UNKNOWN__ Missense_Mutation SNP T T C rs1881420 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:29416481T>C ENST00000389048.3 - 29 5378 c.4472A>G c.(4471-4473)aAg>aGg p.K1491R ALK_ENST00000431873.1_Missense_Mutation_p.K321R NM_004304.4 NP_004295.2 Q9UM73 ALK_HUMAN anaplastic lymphoma receptor tyrosine kinase 1491 NA K -> R (in dbSNP:rs1881420). {ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:9053841, ECO:0000269|Ref.4}. activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234) ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714) p.K1491R(1) ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171)|Crizotinib(DB08865) TCCGTGGACCTTGTGCAACTC 0.532 NA T, Mis, A NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22 ALCL, NSCLC, Neuroblastoma neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome T||| 2079 0.415136 0.2405 0.4467 5008 , , NA 18547 0.7312 NA 0.2336 False NA ,,, NA NA NA 2504 0.4898 NA NA NA yes Dom yes Familial neuroblastoma 2 2p23 238 anaplastic lymphoma kinase (Ki-1) L, E, M 1 Substitution - Missense(1) prostate(1) ARG/LYS 1068,3338 389.1+/-327.2 147,774,1282 113 118 116 4472 1.9 0.4 2 dbSNP_92 116 1837,6763 330.1+/-319.0 216,1405,2679 yes missense ALK NM_004304.4 26 363,2179,3961 CC,CT,TT 21.3605,24.2397,22.3358 benign 1491/1621 29416481 2905,10101 2203 4300 6503 SO:0001583 missense Familial Cancer Database Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease D45915 CCDS33172.1 2p23 2014-09-17 2008-01-23 ENSG00000171094 ENSG00000171094 238 CD molecules 427 protein-coding gene gene with protein product 105590 anaplastic lymphoma kinase (Ki-1) NA 8122112 Standard NM_004304 NM_004304 NA Approved CD246 uc002rmy.3 Q9UM73 OTTHUMG00000152034 ENST00000389048.3:c.4472A>G chr2.hg19:g.29416481T>C ENSP00000373700:p.Lys1491Arg NA Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6 hg19 CCDS33172.1 0.02 16.621871 ACCxTGT COVERED 863 0.39514652014652013 114 0.23170731707317074 151 0.4171270718232044 415 0.7255244755244755 183 0.24142480211081793 t 13.96 2.391818 0.42410 0.242397 0.213605 ENSG00000171094 ENST00000389048;ENST00000431873 T;T 0.77489 -1.1;2.84 5.64 1.9 0.25705 . 0.124743 0.35349 U 0.003264 T 0.00012 0.0000 L 0.60455 1.87 0.51233 P 8.500000000000174E-5 B 0.02656 0.0 B 0.08055 0.003 T 0.44467 -0.9326 9 0.23302 T 0.38 . 6.8496 0.24008 0.0:0.1336:0.1271:0.7393 rs1881420;rs3738871;rs56441963;rs59805402;rs1881420 1491 Q9UM73 ALK_HUMAN R 1491;321 ENSP00000373700:K1491R;ENSP00000414027:K321R ENSP00000373700:K1491R K - 2 0 ALK 29269985 1.000000 0.71417 0.353000 0.25747 0.942000 0.58702 2.447000 0.44917 0.089000 0.17243 0.454000 0.30748 AAG NOVEL ALK-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000324994.1 1 20.763201 KEEP 0 0 0 69 2182 TT 1 1 0 - 17 60 647 0 0 42.358152 379 60 13858 589 ENST00000389048.3 0.042929 1 ALK 238 __UNKNOWN__ __UNKNOWN__ 2 29444076 29444076 __UNKNOWN__ Intron SNP G G T rs1534545 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:29444076G>T ENST00000389048.3 - 23 4422 ALK_ENST00000431873.1_Intron NM_004304.4 NP_004295.2 Q9UM73 ALK_HUMAN anaplastic lymphoma receptor tyrosine kinase NA NA activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234) ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714) ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171)|Crizotinib(DB08865) GGCAGAAGGTGAAGCAAAACA 0.532 NA T, Mis, A NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22 ALCL, NSCLC, Neuroblastoma neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome G||| 1876 0.374601 0.1203 0.4294 5008 , , NA 21403 0.7173 NA 0.2256 False NA ,,, NA NA NA 2504 0.4796 NA NA NA yes Dom yes Familial neuroblastoma 2 2p23 238 anaplastic lymphoma kinase (Ki-1) L, E, M 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease D45915 CCDS33172.1 2p23 2014-09-17 2008-01-23 ENSG00000171094 ENSG00000171094 238 CD molecules 427 protein-coding gene gene with protein product 105590 anaplastic lymphoma kinase (Ki-1) NA 8122112 Standard NM_004304 NM_004304 NA Approved CD246 uc002rmy.3 Q9UM73 OTTHUMG00000152034 ENST00000389048.3:c.3516-375C>A chr2.hg19:g.29444076G>T NA Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6 hg19 CCDS33172.1 0.02 4.31946 GGTxAAG COVERED 793 0.3630952380952381 63 0.12804878048780488 145 0.4005524861878453 403 0.7045454545454546 182 0.24010554089709762 G 6.564 0.472332 0.12461 . . ENSG00000171094 ENST00000453137 T 0.74315 -0.83 3.32 2.44 0.29823 . . . . . T 0.00012 0.0000 . . . 0.58432 P 2.9999999999752447E-6 . . . . . . T 0.46884 -0.9159 4 . . . . 6.3721 0.21487 0.1339:0.0:0.8661:0.0 rs1534545;rs3738873;rs17728458;rs61624179 . . . L 79 ENSP00000387488:F79L . F - 3 2 ALK 29297580 0.235000 0.23794 0.002000 0.10522 0.005000 0.04900 1.687000 0.37680 0.975000 0.38392 0.557000 0.71058 TTC NOVEL ALK-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000324994.1 0 2.708902 KEEP 0 0 0 9 323 GG 0.99254 0.992532 0 - 6 60 213 0 0 14.079971 103 60 3864 134 ENST00000389048.3 0.055046 0.999992 ALK 238 __UNKNOWN__ __UNKNOWN__ 2 29445458 29445458 __UNKNOWN__ Silent SNP G G T rs3795850 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:29445458G>T ENST00000389048.3 - 21 4281 c.3375C>A c.(3373-3375)ggC>ggA p.G1125G ALK_ENST00000431873.1_Intron NM_004304.4 NP_004295.2 Q9UM73 ALK_HUMAN anaplastic lymphoma receptor tyrosine kinase 1125 Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}. NA activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234) ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714) ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171)|Crizotinib(DB08865) CCCCAAAGGCGCCATGGCCCA 0.587 NA T, Mis, A NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22 ALCL, NSCLC, Neuroblastoma neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome G||| 2083 0.415935 0.2602 0.4481 5008 , , NA 15975 0.7173 NA 0.2346 False NA ,,, NA NA NA 2504 0.4796 NA NA NA yes Dom yes Familial neuroblastoma 2 2p23 238 anaplastic lymphoma kinase (Ki-1) L, E, M 0 G 1110,3296 398.1+/-330.7 148,814,1241 40 39 39 3375 -8.5 0.4 2 dbSNP_107 39 1770,6830 321.1+/-314.9 204,1362,2734 no coding-synonymous ALK NM_004304.4 352,2176,3975 TT,TG,GG 20.5814,25.1929,22.1436 1125/1621 29445458 2880,10126 2203 4300 6503 SO:0001819 synonymous_variant Familial Cancer Database Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease D45915 CCDS33172.1 2p23 2014-09-17 2008-01-23 ENSG00000171094 ENSG00000171094 238 CD molecules 427 protein-coding gene gene with protein product 105590 anaplastic lymphoma kinase (Ki-1) NA 8122112 Standard NM_004304 NM_004304 NA Approved CD246 uc002rmy.3 Q9UM73 OTTHUMG00000152034 ENST00000389048.3:c.3375C>A chr2.hg19:g.29445458G>T NA Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6 hg19 CCDS33172.1 0.02 1.919044 GGCxCCA COVERED NOVEL ALK-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000324994.1 0 2.40732 KEEP 0 0 0 8 270 GG 0.99257 0.992526 0 - 4 60 151 0 0 9.735076 95 60 3484 126 ENST00000389048.3 0.040404 0.999956 ALK 238 __UNKNOWN__ __UNKNOWN__ 2 29446184 29446184 __UNKNOWN__ Intron SNP C C G rs2276550 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:29446184C>G ENST00000389048.3 - 20 4266 ALK_ENST00000431873.1_Intron NM_004304.4 NP_004295.2 Q9UM73 ALK_HUMAN anaplastic lymphoma receptor tyrosine kinase NA NA activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234) ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714) ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171)|Crizotinib(DB08865) CCCTCTCCTCCCAGGACGGCA 0.597 NA T, Mis, A NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22 ALCL, NSCLC, Neuroblastoma neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome C||| 2107 0.420727 0.2595 0.4496 5008 , , NA 19616 0.7381 NA 0.2356 False NA ,,, NA NA NA 2504 0.4816 NA NA NA yes Dom yes Familial neuroblastoma 2 2p23 238 anaplastic lymphoma kinase (Ki-1) L, E, M 0 C 1116,3290 398.3+/-330.8 151,814,1238 60 52 55 -1 0 2 dbSNP_100 55 1790,6810 323.0+/-315.8 210,1370,2720 no intron ALK NM_004304.4 361,2184,3958 GG,GC,CC 20.814,25.3291,22.3435 29446184 2906,10100 2203 4300 6503 SO:0001627 intron_variant Familial Cancer Database Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease D45915 CCDS33172.1 2p23 2014-09-17 2008-01-23 ENSG00000171094 ENSG00000171094 238 CD molecules 427 protein-coding gene gene with protein product 105590 anaplastic lymphoma kinase (Ki-1) NA 8122112 Standard NM_004304 NM_004304 NA Approved CD246 uc002rmy.3 Q9UM73 OTTHUMG00000152034 ENST00000389048.3:c.3359+23G>C chr2.hg19:g.29446184C>G NA Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6 hg19 CCDS33172.1 0.02 5.662776 CTCxCAG COVERED NOVEL ALK-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000324994.1 0 6.304667 KEEP 0 0 0 21 701 CC 0.999869 0.999869 0 - 12 60 361 0 0 23.363196 148 60 5337 205 ENST00000389048.3 0.075 1 ALK 238 __UNKNOWN__ __UNKNOWN__ 2 29541104 29541104 __UNKNOWN__ Intron SNP C C T rs2276549 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:29541104C>T ENST00000389048.3 - 8 2554 ALK_ENST00000498037.1_Intron|ALK_ENST00000431873.1_Intron NM_004304.4 NP_004295.2 Q9UM73 ALK_HUMAN anaplastic lymphoma receptor tyrosine kinase NA NA activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234) ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714) ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171)|Crizotinib(DB08865) CTTTCTTAATCTGGGTTCCGG 0.522 NA T, Mis, A NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22 ALCL, NSCLC, Neuroblastoma neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome C||| 2928 0.584665 0.1354 0.7248 5008 , , NA 18433 0.7966 NA 0.6938 False NA ,,, NA NA NA 2504 0.7618 NA NA NA yes Dom yes Familial neuroblastoma 2 2p23 238 anaplastic lymphoma kinase (Ki-1) L, E, M 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease D45915 CCDS33172.1 2p23 2014-09-17 2008-01-23 ENSG00000171094 ENSG00000171094 238 CD molecules 427 protein-coding gene gene with protein product 105590 anaplastic lymphoma kinase (Ki-1) NA 8122112 Standard NM_004304 NM_004304 NA Approved CD246 uc002rmy.3 Q9UM73 OTTHUMG00000152034 ENST00000389048.3:c.1647+65G>A chr2.hg19:g.29541104C>T NA Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6 hg19 CCDS33172.1 0.02 4.238881 AATxTGG COVERED NOVEL ALK-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000324994.1 1 4.514664 KEEP 0 0 0 15 528 CC 0.99649 0.99649 0 - 9 60 321 0 0 21.89283 131 60 4931 182 ENST00000389048.3 0.064286 1 BIRC6 57448 __UNKNOWN__ __UNKNOWN__ 2 32640420 32640420 __UNKNOWN__ Silent SNP C C T rs3769599 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:32640420C>T ENST00000421745.2 + 10 2195 c.2061C>T c.(2059-2061)taC>taT p.Y687Y NM_016252.3 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 687 NA apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712) endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802) acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842) p.Y659*(1) NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) CTGTGACTTACATTCAGCAAT 0.448 NA C||| 157 0.0313498 0.0 0.0 5008 , , NA 20263 0.1548 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA Pancreas(94;175 1509 16028 18060 45422) NA 1 Substitution - Nonsense(1) ovary(1) C 7,4399 12.9+/-30.5 0,7,2196 104 94 97 2061 1.8 1 2 dbSNP_107 97 2,8598 1.2+/-3.3 0,2,4298 no coding-synonymous BIRC6 NM_016252.3 0,9,6494 TT,TC,CC 0.0233,0.1589,0.0692 687/4858 32640420 9,12997 2203 4300 6503 SO:0001819 synonymous_variant AF265555 CCDS33175.2 2p22.3 2011-01-25 2011-01-25 ENSG00000115760 ENSG00000115760 57448 Baculoviral IAP repeat containing, Ubiquitin-conjugating enzymes E2 13516 protein-coding gene gene with protein product apollon 605638 baculoviral IAP repeat-containing 6 NA 10544019 Standard NM_016252 NM_016252 NA Approved BRUCE uc010ezu.3 Q9NR09 OTTHUMG00000150528 ENST00000421745.2:c.2061C>T chr2.hg19:g.32640420C>T NA Q9ULD1 hg19 CCDS33175.2 0.02 12.982179 TTAxATT COVERED NOVEL BIRC6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000318769.3 1 15.049221 KEEP 0 0 0 50 1804 CC 1 1 0 + 10 60 367 0 0 22.258189 303 60 11467 442 ENST00000421745.2 0.031949 1 BIRC6 57448 __UNKNOWN__ __UNKNOWN__ 2 32664814 32664814 __UNKNOWN__ Intron SNP A A G rs369603789 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:32664814A>G ENST00000421745.2 + 16 3944 NM_016252.3 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 NA NA apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712) endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802) acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842) NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) GATCAGATTTAACACACTATT 0.328 NA A||| 4 0.000798722 0.0 0.0 5008 , , NA 20252 0.004 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA Pancreas(94;175 1509 16028 18060 45422) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF265555 CCDS33175.2 2p22.3 2011-01-25 2011-01-25 ENSG00000115760 ENSG00000115760 57448 Baculoviral IAP repeat containing, Ubiquitin-conjugating enzymes E2 13516 protein-coding gene gene with protein product apollon 605638 baculoviral IAP repeat-containing 6 NA 10544019 Standard NM_016252 NM_016252 NA Approved BRUCE uc010ezu.3 Q9NR09 OTTHUMG00000150528 ENST00000421745.2:c.3810+60A>G chr2.hg19:g.32664814A>G NA Q9ULD1 hg19 CCDS33175.2 0.02 9.061391 TTTxACA COVERED NOVEL BIRC6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000318769.3 6 4.512258 KEEP 0 0 0 15 435 AA 0.99649 0.99649 0 + 8 60 295 0 0 18.668512 196 60 6989 222 ENST00000421745.2 0.039216 1 BIRC6 57448 __UNKNOWN__ __UNKNOWN__ 2 32730068 32730068 __UNKNOWN__ Intron SNP C C T rs543706301 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:32730068C>T ENST00000421745.2 + 50 9633 NM_016252.3 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 NA NA apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712) endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802) acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842) NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) AATATCTTCTCTAGGTACAAT 0.358 NA c||| 1 0.000199681 0.0 0.0 5008 , , NA 16299 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA Pancreas(94;175 1509 16028 18060 45422) NA 0 47 42 43 NA NA 2 NA 32730068 2203 4300 6503 SO:0001627 intron_variant AF265555 CCDS33175.2 2p22.3 2011-01-25 2011-01-25 ENSG00000115760 ENSG00000115760 57448 Baculoviral IAP repeat containing, Ubiquitin-conjugating enzymes E2 13516 protein-coding gene gene with protein product apollon 605638 baculoviral IAP repeat-containing 6 NA 10544019 Standard NM_016252 NM_016252 NA Approved BRUCE uc010ezu.3 Q9NR09 OTTHUMG00000150528 ENST00000421745.2:c.9500-4C>T chr2.hg19:g.32730068C>T NA Q9ULD1 hg19 CCDS33175.2 0.02 4.408561 TCTxTAG COVERED NOVEL BIRC6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000318769.3 0 9.631087 KEEP 0 0 0 32 1106 CC 0.999997 0.999997 0 + 6 60 223 0 0 14.546458 127 60 4792 196 ENST00000421745.2 0.045113 1 TTC27 55622 __UNKNOWN__ __UNKNOWN__ 2 32983526 32983526 __UNKNOWN__ Silent SNP C C T rs2273665 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:32983526C>T ENST00000317907.4 + 13 1851 c.1620C>T c.(1618-1620)aaC>aaT p.N540N NM_001193509.1|NM_017735.4 NP_001180438.1|NP_060205.3 Q6P3X3 TTC27_HUMAN tetratricopeptide repeat domain 27 540 NA p.N540N(1) breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 38 ATCTTCGGAACAAGGAGTTTC 0.527 NA C||| 1467 0.292931 0.1536 0.3718 5008 , , NA 17491 0.3671 NA 0.4125 False NA ,,, NA NA NA 2504 0.226 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) C , 923,3483 351.3+/-311.2 88,747,1368 100 92 94 1470,1620 5.9 0.7 2 dbSNP_100 94 3528,5072 514.7+/-378.4 732,2064,1504 no coding-synonymous,coding-synonymous TTC27 NM_001193509.1,NM_017735.4 , 820,2811,2872 TT,TC,CC 41.0233,20.9487,34.2227 , 490/794,540/844 32983526 4451,8555 2203 4300 6503 SO:0001819 synonymous_variant BC063791, AK000279 CCDS33176.1 2p22.3 2013-01-10 ENSG00000018699 ENSG00000018699 55622 Tetratricopeptide (TTC) repeat domain containing 25986 protein-coding gene gene with protein product NA Standard NM_017735 NM_001193509 NA Approved FLJ20272 uc002rom.3 Q6P3X3 OTTHUMG00000152134 ENST00000317907.4:c.1620C>T chr2.hg19:g.32983526C>T NA A6NKJ0|Q96SS5|Q9BVF1|Q9NWR4|Q9NXG4 hg19 CCDS33176.1 0.02 6.244268 GAAxAAG COVERED NOVEL TTC27-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000325395.1 1 15.048781 KEEP 0 0 0 50 1775 CC 1 1 0 + 8 60 268 0 0 16.236625 188 60 7102 285 ENST00000317907.4 0.040816 1 AC009499.1 0 __UNKNOWN__ __UNKNOWN__ 2 33952621 33952621 __UNKNOWN__ lincRNA SNP G G A rs11684598 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:33952621G>A ENST00000366209.2 + 0 68 MYADML_ENST00000474610.1_RNA NA NA NA CTTCGGTGGCGTAAGCCACAC 0.647 NA G||| 2228 0.444888 0.3366 0.5951 5008 , , NA 17498 0.4425 NA 0.4761 False NA ,,, NA NA NA 2504 0.455 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000366209.2: chr2.hg19:g.33952621G>A NA hg19 0.02 19.974753 GGCxTAA COVERED NOVEL AC009499.1-002 KNOWN non_canonical_polymorphism|basic lincRNA NA lincRNA OTTHUMT00000325406.1 4 28.591545 KEEP 0 0 0 95 3277 GG 1 1 0 + 28 60 983 0 0 65.569692 452 60 15334 696 ENST00000366209.2 0.058333 1 AC007401.2 0 __UNKNOWN__ __UNKNOWN__ 2 36775619 36775619 __UNKNOWN__ Intron SNP T T C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:36775619T>C ENST00000406220.1 - 1 213 CRIM1_ENST00000280527.2_Intron NA NA NA tTTGAGATAATGTAAAGCAAC 0.338 NA NA NA NA NA NA NA NA NA NA NA 0 22 24 23 NA NA 2 NA 36775619 2199 4299 6498 SO:0001627 intron_variant NA NA NA NA ENST00000406220.1:c.64+3579A>G chr2.hg19:g.36775619T>C NA hg19 0.02 3.830452 TAAxGTA COVERED NOVEL AC007401.2-001 PUTATIVE basic|appris_principal|exp_conf protein_coding NA protein_coding OTTHUMT00000325456.1 1 5.114443 KEEP 0 0 0 17 507 TT 0.999366 0.999366 0 - 5 60 185 1 0 11.489996 137 60 4966 162 ENST00000406220.1 0.035211 1 FEZ2 9637 __UNKNOWN__ __UNKNOWN__ 2 36782886 36782886 __UNKNOWN__ Missense_Mutation SNP G G A rs848642 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:36782886G>A ENST00000379245.4 - 8 1114 c.1066C>T c.(1066-1068)Cgt>Tgt p.R356C FEZ2_ENST00000305852.7_Missense_Mutation_p.R158C|FEZ2_ENST00000487919.1_5'UTR|FEZ2_ENST00000405912.3_Missense_Mutation_p.R329C NM_001042548.1 NP_001036013.1 Q9UHY8 FEZ2_HUMAN fasciculation and elongation protein zeta 2 (zygin II) 329 NA axon guidance (GO:0007411)|nervous system development (GO:0007399)|signal transduction (GO:0007165) breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1) 7 all_hematologic(82;0.21) TTCATGGCACGAAGAACTGCA 0.338 NA G||| 2721 0.543331 0.5938 0.5159 5008 , , NA 16726 0.7768 NA 0.2893 False NA ,,, NA NA NA 2504 0.5153 NA NA NA NA 0 G CYS/ARG,CYS/ARG 2058,1562 593,872,345 57 54 55 985,1066 2.9 0.8 2 dbSNP_86 55 2544,5588 425,1694,1947 yes missense,missense FEZ2 NM_005102.2,NM_001042548.1 180,180 1018,2566,2292 AA,AG,GG 31.2838,43.1492,39.1593 benign,benign 329/354,356/381 36782886 4602,7150 1810 4066 5876 SO:0001583 missense U60061 CCDS46257.1, CCDS46258.1 2p21 2008-05-15 ENSG00000171055 ENSG00000171055 9637 3660 protein-coding gene gene with protein product 604826 NA 9096408 Standard NM_005102 NA Approved uc002rpg.2 Q9UHY8 OTTHUMG00000152148 ENST00000379245.4:c.1066C>T chr2.hg19:g.36782886G>A ENSP00000368547:p.Arg356Cys NA Q5EBN3|Q76LN0|Q99690 hg19 CCDS46258.1 0.02 14.042788 CACxAAG COVERED 1145|1145 0.5242673992673993|0.5242673992673993 293|293 0.5955284552845529|0.5955284552845529 177|177 0.4889502762430939|0.4889502762430939 457|457 0.798951048951049|0.798951048951049 218|218 0.287598944591029|0.287598944591029 G|G 12.93|12.93 2.086010|2.086010 0.36855|0.36855 0.568508|0.568508 0.312838|0.312838 ENSG00000171055|ENSG00000171055 ENST00000379245;ENST00000305852;ENST00000405912;ENST00000357996|ENST00000441005 T;T;T;T|. 0.46451|. 4.13;0.9;1.87;0.87|. 5.59|5.59 2.87|2.87 0.33458|0.33458 .|. 0.293474|. 0.42682|. N|. 0.000676|. T|T 0.00012|0.00012 0.0000|0.0000 L|L 0.38175|0.38175 1.15|1.15 0.26331|0.26331 P|P 0.9775287|0.9775287 P;B;B|. 0.48503|. 0.911;0.019;0.001|. P;B;B|. 0.44860|. 0.462;0.004;0.001|. T|T 0.20505|0.20505 -1.0273|-1.0273 9|4 0.38643|. T|. 0.18|. -25.4913|-25.4913 10.2732|10.2732 0.43495|0.43495 0.2133:0.0:0.7867:0.0|0.2133:0.0:0.7867:0.0 rs848642;rs1132438;rs3178168;rs3193188;rs3770804;rs11545206;rs17417887;rs52807216;rs58380546;rs848642|rs848642;rs1132438;rs3178168;rs3193188;rs3770804;rs11545206;rs17417887;rs52807216;rs58380546;rs848642 329;356;158|. Q9UHY8;Q9UHY8-2;Q7Z674|. FEZ2_HUMAN;.;.|. C|L 356;158;329;228|158 ENSP00000368547:R356C;ENSP00000305843:R158C;ENSP00000385112:R329C;ENSP00000350685:R228C|. ENSP00000305843:R158C|. R|S -|- 1|2 0|0 FEZ2|FEZ2 36636390|36636390 0.999000|0.999000 0.42202|0.42202 0.820000|0.820000 0.32676|0.32676 0.852000|0.852000 0.48524|0.48524 1.855000|1.855000 0.39378|0.39378 0.334000|0.334000 0.23590|0.23590 -0.759000|-0.759000 0.03464|0.03464 CGT|TCG NOVEL FEZ2-001 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000325431.2 3 22.439094 KEEP 0 2 55 94 3181 GG 1 1 0 - 19 60 672 0 0 43.951754 342 60 12687 559 ENST00000379245.4 0.052632 1 VIT 5212 __UNKNOWN__ __UNKNOWN__ 2 37000881 37000881 __UNKNOWN__ Intron SNP T T A rs538179203|rs3770783 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:37000881T>A ENST00000404084.1 + 6 779 VIT_ENST00000379241.3_Intron|VIT_ENST00000379242.3_Intron|VIT_ENST00000497382.1_Intron|VIT_ENST00000389975.3_Intron|VIT_ENST00000401530.1_Intron Q6UXI7 VITRN_HUMAN vitrin NA NA extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811) interstitial matrix (GO:0005614) glycosaminoglycan binding (GO:0005539) autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_hematologic(82;0.248) ataaataaattaattaattaa 0.453 NA t||| 885 0.176717 0.2239 0.1513 5008 , , NA 13224 0.252 NA 0.0815 False NA ,,, NA NA NA 2504 0.1513 NA NA NA NA 0 7 8 8 NA NA 2 NA 37000881 685 1576 2261 SO:0001627 intron_variant AF063833 CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1 2p22.2 2008-05-15 ENSG00000205221 ENSG00000205221 5212 12697 protein-coding gene gene with protein product NA Standard NM_001177969 NA Approved uc002rpl.3 Q6UXI7 OTTHUMG00000152149 ENST00000404084.1:c.613+6453T>A chr2.hg19:g.37000881T>A NA A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0 hg19 0.02 -0.307054 AATxAAT COVERED NOVEL VIT-003 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000325453.1 0 4.510841 KEEP 0 0 0 15 429 TT 0.99649 0.797437 0 + 3 60 101 0 0 7.126655 31 60 1105 54 ENST00000404084.1 0.088235 0.800245 VIT 5212 __UNKNOWN__ __UNKNOWN__ 2 37000915 37000915 __UNKNOWN__ Intron SNP C C A rs3770782 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:37000915C>A ENST00000404084.1 + 6 779 VIT_ENST00000379241.3_Intron|VIT_ENST00000379242.3_Intron|VIT_ENST00000497382.1_Intron|VIT_ENST00000389975.3_Intron|VIT_ENST00000401530.1_Intron Q6UXI7 VITRN_HUMAN vitrin NA NA extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811) interstitial matrix (GO:0005614) glycosaminoglycan binding (GO:0005539) autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_hematologic(82;0.248) ATGCTCTGACCAGTCAAATGT 0.433 NA C||| 517 0.103235 0.1634 0.0576 5008 , , NA 15031 0.1855 NA 0.004 False NA ,,, NA NA NA 2504 0.0716 NA NA NA NA 0 C ,,, 619,3787 254.0+/-259.7 47,525,1631 53 48 49 ,,, 3.1 0.3 2 dbSNP_107 49 14,8586 9.1+/-34.3 0,14,4286 no intron,intron,intron,intron VIT NM_001177969.1,NM_001177970.1,NM_001177971.1,NM_053276.3 ,,, 47,539,5917 AA,AC,CC 0.1628,14.049,4.867 ,,, ,,, 37000915 633,12373 2203 4300 6503 SO:0001627 intron_variant AF063833 CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1 2p22.2 2008-05-15 ENSG00000205221 ENSG00000205221 5212 12697 protein-coding gene gene with protein product NA Standard NM_001177969 NA Approved uc002rpl.3 Q6UXI7 OTTHUMG00000152149 ENST00000404084.1:c.613+6487C>A chr2.hg19:g.37000915C>A NA A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0 hg19 0.02 4.15037 GACxAGT COVERED NOVEL VIT-003 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000325453.1 0 10.232563 KEEP 0 0 0 34 1168 CC 0.999998 0.999996 0 + 8 60 269 0 0 18.236694 108 60 3767 169 ENST00000404084.1 0.068966 0.999998 STRN 6801 __UNKNOWN__ __UNKNOWN__ 2 37075013 37075013 __UNKNOWN__ 3'UTR SNP T T A rs1861435 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:37075013T>A ENST00000263918.4 - 0 3937 NM_003162.3 NP_003153.2 O43815 STRN_HUMAN striatin, calmodulin binding protein NA NA dendrite development (GO:0016358)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|tight junction assembly (GO:0070830)|Wnt signaling pathway (GO:0016055) cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923) armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|estrogen receptor binding (GO:0030331)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 33 Ovarian(717;0.0129)|all_hematologic(82;0.21) ATGTAGAAATTGTTTTAATTG 0.294 NA T||| 2354 0.470048 0.4327 0.4207 5008 , , NA 17281 0.5675 NA 0.4374 False NA ,,, NA NA NA 2504 0.4888 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ223814 CCDS1784.1 2p22.2 2013-01-10 2001-11-28 ENSG00000115808 ENSG00000115808 6801 WD repeat domain containing 11424 protein-coding gene gene with protein product 614765 striatin, calmodulin-binding protein NA 9693043, 8769426 Standard NM_003162 NA Approved SG2NA uc002rpn.3 O43815 OTTHUMG00000100959 ENST00000263918.4:c.*1586A>T chr2.hg19:g.37075013T>A NA Q3KP65|Q53TQ8|Q9NP38 hg19 CCDS1784.1 0.02 9.281785 AATxGTT COVERED NOVEL STRN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000218568.1 2 9.929714 KEEP 0 0 0 33 1046 TT 0.999998 0.999998 0 - 18 60 667 0 0 48.538812 194 60 7102 283 ENST00000263918.4 0.084906 1 STRN 6801 __UNKNOWN__ __UNKNOWN__ 2 37076498 37076498 __UNKNOWN__ 3'UTR SNP A A C rs62132520 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:37076498A>C ENST00000263918.4 - 0 2452 STRN_ENST00000379213.2_3'UTR NM_003162.3 NP_003153.2 O43815 STRN_HUMAN striatin, calmodulin binding protein NA NA dendrite development (GO:0016358)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|tight junction assembly (GO:0070830)|Wnt signaling pathway (GO:0016055) cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923) armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|estrogen receptor binding (GO:0030331)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 33 Ovarian(717;0.0129)|all_hematologic(82;0.21) CTTCAGCAGAACAAAAGGGCA 0.408 NA A||| 954 0.190495 0.0151 0.1599 5008 , , NA 21200 0.5407 NA 0.0954 False NA ,,, NA NA NA 2504 0.1861 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ223814 CCDS1784.1 2p22.2 2013-01-10 2001-11-28 ENSG00000115808 ENSG00000115808 6801 WD repeat domain containing 11424 protein-coding gene gene with protein product 614765 striatin, calmodulin-binding protein NA 9693043, 8769426 Standard NM_003162 NA Approved SG2NA uc002rpn.3 O43815 OTTHUMG00000100959 ENST00000263918.4:c.*101T>G chr2.hg19:g.37076498A>C NA Q3KP65|Q53TQ8|Q9NP38 hg19 CCDS1784.1 0.02 10.505585 AGAxCAA COVERED NOVEL STRN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000218568.1 1 9.629734 KEEP 0 0 0 32 1034 AA 0.999997 0.999997 0 - 16 60 589 0 0 39.684387 273 60 9599 361 ENST00000263918.4 0.055363 1 STRN 6801 __UNKNOWN__ __UNKNOWN__ 2 37076594 37076594 __UNKNOWN__ 3'UTR SNP T T C rs62132521 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:37076594T>C ENST00000263918.4 - 0 2356 STRN_ENST00000379213.2_3'UTR NM_003162.3 NP_003153.2 O43815 STRN_HUMAN striatin, calmodulin binding protein NA NA dendrite development (GO:0016358)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|tight junction assembly (GO:0070830)|Wnt signaling pathway (GO:0016055) cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923) armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|estrogen receptor binding (GO:0030331)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 33 Ovarian(717;0.0129)|all_hematologic(82;0.21) AGATGATGCATTGCGTCATAC 0.433 NA T||| 1075 0.214657 0.0968 0.17 5008 , , NA 19199 0.5407 NA 0.0994 False NA ,,, NA NA NA 2504 0.1881 NA NA NA NA 0 T 478,3928 225.2+/-241.2 27,424,1752 82 80 81 -1.4 0 2 dbSNP_129 81 756,7844 181.9+/-230.5 30,696,3574 no utr-3 STRN NM_003162.3 57,1120,5326 CC,CT,TT 8.7907,10.8488,9.4879 37076594 1234,11772 2203 4300 6503 SO:0001624 3_prime_UTR_variant AJ223814 CCDS1784.1 2p22.2 2013-01-10 2001-11-28 ENSG00000115808 ENSG00000115808 6801 WD repeat domain containing 11424 protein-coding gene gene with protein product 614765 striatin, calmodulin-binding protein NA 9693043, 8769426 Standard NM_003162 NA Approved SG2NA uc002rpn.3 O43815 OTTHUMG00000100959 ENST00000263918.4:c.*5A>G chr2.hg19:g.37076594T>C NA Q3KP65|Q53TQ8|Q9NP38 hg19 CCDS1784.1 0.02 21.656926 GCAxTGC COVERED NOVEL STRN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000218568.1 0 18.955018 KEEP 0 0 0 63 1950 TT 1 1 0 - 18 60 691 0 0 44.517086 453 60 16473 632 ENST00000263918.4 0.038217 1 HEATR5B 54497 __UNKNOWN__ __UNKNOWN__ 2 37230728 37230728 __UNKNOWN__ Silent SNP T T C rs1007823 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:37230728T>C ENST00000233099.5 - 31 5102 c.5007A>G c.(5005-5007)gtA>gtG p.V1669V HEATR5B_ENST00000354531.2_Silent_p.V1669V NM_019024.1 NP_061897.1 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 1669 NA extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) p.V1669V(1) breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 77 all_hematologic(82;0.21) GAGCAGCTCTTACTATCTGTT 0.368 NA T||| 904 0.180511 0.0061 0.1614 5008 , , NA 15078 0.5278 NA 0.0855 False NA ,,, NA NA NA 2504 0.1697 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) T 92,4314 74.7+/-112.8 1,90,2112 85 85 85 5007 -3.6 1 2 dbSNP_86 85 663,7937 168.6+/-220.1 29,605,3666 no coding-synonymous HEATR5B NM_019024.1 30,695,5778 CC,CT,TT 7.7093,2.0881,5.805 1669/2072 37230728 755,12251 2203 4300 6503 SO:0001819 synonymous_variant AB037835 CCDS33181.1 2p22.2 2007-01-02 ENSG00000008869 ENSG00000008869 54497 29273 protein-coding gene gene with protein product NA 10718198 Standard NM_019024 XM_005264379 NA Approved KIAA1414, DKFZp686P15184 uc002rpp.1 Q9P2D3 OTTHUMG00000152158 ENST00000233099.5:c.5007A>G chr2.hg19:g.37230728T>C NA B5MDU8|Q7Z3B2|Q9NVL7 hg19 CCDS33181.1 0.02 11.522183 TCTxACT COVERED NOVEL HEATR5B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000325492.1 3 17.145589 KEEP 0 0 0 57 1665 TT 1 1 0 - 11 60 415 0 0 26.896434 253 60 9008 380 ENST00000233099.5 0.041667 1 HEATR5B 54497 __UNKNOWN__ __UNKNOWN__ 2 37241050 37241050 __UNKNOWN__ Silent SNP G G A rs17020125 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:37241050G>A ENST00000233099.5 - 27 4313 c.4218C>T c.(4216-4218)tcC>tcT p.S1406S HEATR5B_ENST00000354531.2_Silent_p.S1406S NM_019024.1 NP_061897.1 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 1406 NA extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 77 all_hematologic(82;0.21) ACAGCTGGCTGGAAGATCCTT 0.463 NA G||| 1304 0.260383 0.0484 0.2651 5008 , , NA 14467 0.5288 NA 0.1948 False NA ,,, NA NA NA 2504 0.3344 NA NA NA NA 0 G 336,4070 176.2+/-205.4 11,314,1878 131 125 127 4218 -0.9 1 2 dbSNP_123 127 1590,7010 297.9+/-303.7 164,1262,2874 no coding-synonymous HEATR5B NM_019024.1 175,1576,4752 AA,AG,GG 18.4884,7.626,14.8085 1406/2072 37241050 1926,11080 2203 4300 6503 SO:0001819 synonymous_variant AB037835 CCDS33181.1 2p22.2 2007-01-02 ENSG00000008869 ENSG00000008869 54497 29273 protein-coding gene gene with protein product NA 10718198 Standard NM_019024 XM_005264379 NA Approved KIAA1414, DKFZp686P15184 uc002rpp.1 Q9P2D3 OTTHUMG00000152158 ENST00000233099.5:c.4218C>T chr2.hg19:g.37241050G>A NA B5MDU8|Q7Z3B2|Q9NVL7 hg19 CCDS33181.1 0.02 11.899518 GCTxGAA COVERED NOVEL HEATR5B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000325492.1 2 16.085503 KEEP 0 1 30 64 2201 GG 1 1 0 - 23 60 862 0 0 62.727532 255 60 9417 408 ENST00000233099.5 0.082734 1 HEATR5B 54497 __UNKNOWN__ __UNKNOWN__ 2 37255806 37255806 __UNKNOWN__ Intron SNP C C T rs17020143 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:37255806C>T ENST00000233099.5 - 23 3697 HEATR5B_ENST00000354531.2_Intron NM_019024.1 NP_061897.1 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B NA NA extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 77 all_hematologic(82;0.21) ATTTTAAGAACGCACATTAAA 0.294 NA C||| 879 0.175519 0.0068 0.1614 5008 , , NA 15490 0.5188 NA 0.0815 False NA ,,, NA NA NA 2504 0.1564 NA NA NA NA 0 C 90,4314 69.8+/-107.6 1,88,2113 46 47 47 2.4 0 2 dbSNP_123 47 654,7946 161.4+/-214.4 25,604,3671 no intron HEATR5B NM_019024.1 26,692,5784 TT,TC,CC 7.6047,2.0436,5.7213 37255806 744,12260 2202 4300 6502 SO:0001627 intron_variant AB037835 CCDS33181.1 2p22.2 2007-01-02 ENSG00000008869 ENSG00000008869 54497 29273 protein-coding gene gene with protein product NA 10718198 Standard NM_019024 XM_005264379 NA Approved KIAA1414, DKFZp686P15184 uc002rpp.1 Q9P2D3 OTTHUMG00000152158 ENST00000233099.5:c.3601+17G>A chr2.hg19:g.37255806C>T NA B5MDU8|Q7Z3B2|Q9NVL7 hg19 CCDS33181.1 0.02 8.411468 GAAxGCA COVERED NOVEL HEATR5B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000325492.1 0 8.426773 KEEP 0 0 0 28 954 CC 0.999997 0.999997 0 - 16 60 558 0 0 37.812929 228 60 8274 281 ENST00000233099.5 0.065574 1 GPATCH11 253635 __UNKNOWN__ __UNKNOWN__ 2 37325780 37325780 __UNKNOWN__ 3'UTR SNP A A G rs1060957 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:37325780A>G ENST00000409774.1 + 0 3299 GPATCH11_ENST00000281932.5_3'UTR Q8N954 GPT11_HUMAN G patch domain containing 11 NA NA nucleic acid binding (GO:0003676) NA CCAGGATAACACTGATGGAAC 0.438 NA A||| 956 0.190895 0.0393 0.2767 5008 , , NA 16325 0.1518 NA 0.3668 False NA ,,, NA NA NA 2504 0.1943 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK095667 CCDS1785.2, CCDS62891.1, CCDS1785.3 2p22.2 2013-11-05 2013-01-28 2013-01-28 ENSG00000152133 ENSG00000152133 253635 G patch domain containing 26768 protein-coding gene gene with protein product centromere protein Y coiled-coil domain containing 75 CCDC75 NA Standard NM_174931 NM_001278505 NA Approved FLJ38348, CENPY, CENP-Y uc010ezz.3 Q8N954 OTTHUMG00000128469 ENST00000409774.1:c.*2374A>G chr2.hg19:g.37325780A>G NA A8K0D9|B7Z2G4|B8ZZ44 hg19 0.02 3.883323 AACxCTG COVERED NOVEL GPATCH11-002 KNOWN downstream_ATG|basic protein_coding NA protein_coding OTTHUMT00000250269.3 0 8.423755 KEEP 0 0 0 28 868 AA 0.999997 0.999997 0 + 6 60 186 0 0 10.819471 130 60 4629 191 ENST00000409774.1 0.044118 1 EIF2AK2 5610 __UNKNOWN__ __UNKNOWN__ 2 37327684 37327684 __UNKNOWN__ 3'UTR SNP A A C rs35978346 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:37327684A>C ENST00000233057.4 - 0 8710 NM_001135651.2 NP_001129123.1 P19525 E2AK2_HUMAN eukaryotic translation initiation factor 2-alpha kinase 2 NA NA activation of MAPKK activity (GO:0000186)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|evasion or tolerance by virus of host immune response (GO:0030683)|innate immune response (GO:0045087)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production (GO:0001819)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of hematopoietic progenitor cell differentiation (GO:1901532)|regulation of hematopoietic stem cell differentiation (GO:1902036)|regulation of hematopoietic stem cell proliferation (GO:1902033)|regulation of NLRP3 inflammasome complex assembly (GO:1900225)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|viral life cycle (GO:0019058) cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471) ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine kinase activity (GO:0004674) breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1) 22 all_hematologic(82;0.248) ATTTAAGCCAATAATGTCACC 0.318 NA A||| 3604 0.719649 0.6089 0.6715 5008 , , NA 20733 0.7659 NA 0.834 False NA ,,, NA NA NA 2504 0.7382 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC057805 CCDS1786.1, CCDS46259.1 2p22-p21 2014-06-12 2005-01-19 2005-01-19 ENSG00000055332 ENSG00000055332 5610 9437 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 83 176871 protein kinase, interferon-inducible double stranded RNA dependent PRKR NA 1351683 Standard NM_002759 NM_001135651 NA Approved PKR, EIF2AK1, PPP1R83 uc010fac.3 P19525 OTTHUMG00000100962 ENST00000233057.4:c.*6732T>G chr2.hg19:g.37327684A>C NA A8K3P0|D6W584|E9PC80|Q52M43|Q7Z6F6|Q9UIR4 hg19 CCDS1786.1 0.02 6.736517 CCAxTAA COVERED NOVEL EIF2AK2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000218571.2 2 6.254026 KEEP 0 1 35 33 1038 AA 0.999998 0.999998 0 - 18 60 660 0 0 49.465405 156 60 5716 248 ENST00000233057.4 0.103448 1 EIF2AK2 5610 __UNKNOWN__ __UNKNOWN__ 2 37327806 37327806 __UNKNOWN__ 3'UTR SNP C C T rs17020213 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:37327806C>T ENST00000233057.4 - 0 8588 NM_001135651.2 NP_001129123.1 P19525 E2AK2_HUMAN eukaryotic translation initiation factor 2-alpha kinase 2 NA NA activation of MAPKK activity (GO:0000186)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|evasion or tolerance by virus of host immune response (GO:0030683)|innate immune response (GO:0045087)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production (GO:0001819)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of hematopoietic progenitor cell differentiation (GO:1901532)|regulation of hematopoietic stem cell differentiation (GO:1902036)|regulation of hematopoietic stem cell proliferation (GO:1902033)|regulation of NLRP3 inflammasome complex assembly (GO:1900225)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|viral life cycle (GO:0019058) cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471) ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine kinase activity (GO:0004674) breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1) 22 all_hematologic(82;0.248) CCTGGATGGCCGTTTAGAGAG 0.403 NA C||| 999 0.199481 0.0855 0.2651 5008 , , NA 20217 0.1677 NA 0.3509 False NA ,,, NA NA NA 2504 0.184 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC057805 CCDS1786.1, CCDS46259.1 2p22-p21 2014-06-12 2005-01-19 2005-01-19 ENSG00000055332 ENSG00000055332 5610 9437 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 83 176871 protein kinase, interferon-inducible double stranded RNA dependent PRKR NA 1351683 Standard NM_002759 NM_001135651 NA Approved PKR, EIF2AK1, PPP1R83 uc010fac.3 P19525 OTTHUMG00000100962 ENST00000233057.4:c.*6610G>A chr2.hg19:g.37327806C>T NA A8K3P0|D6W584|E9PC80|Q52M43|Q7Z6F6|Q9UIR4 hg19 CCDS1786.1 0.02 5.437722 GGCxGTT COVERED NOVEL EIF2AK2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000218571.2 0 9.931851 KEEP 0 0 0 33 1120 CC 0.999998 0.999998 0 - 7 60 239 0 0 14.11964 190 60 6596 268 ENST00000233057.4 0.035533 1 AC007390.5 0 __UNKNOWN__ __UNKNOWN__ 2 37438993 37438993 __UNKNOWN__ Intron SNP G G A rs1137437 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:37438993G>A ENST00000397064.2 + 5 279 RP11-423P10.2_ENST00000606229.1_RNA|CEBPZ_ENST00000234170.5_Silent_p.S931S NA NA NA TACCTGGAACGCTCTCACTTT 0.353 NA G||| 1600 0.319489 0.2579 0.3674 5008 , , NA 20249 0.3462 NA 0.4264 False NA ,,, NA NA NA 2504 0.2311 NA NA NA NA 0 G 1242,3162 426.6+/-341.2 165,912,1125 124 109 114 2793 0 0 2 dbSNP_86 114 3454,5144 506.3+/-376.6 708,2038,1553 no coding-synonymous CEBPZ NM_005760.2 873,2950,2678 AA,AG,GG 40.1721,28.2016,36.1175 931/1055 37438993 4696,8306 2202 4299 6501 SO:0001627 intron_variant NA NA NA NA ENST00000397064.2:c.241-1587G>A chr2.hg19:g.37438993G>A NA hg19 0.02 8.447743 AACxCTC COVERED NOVEL AC007390.5-007 NOVEL basic|appris_principal|exp_conf protein_coding NA protein_coding OTTHUMT00000325574.1 4 13.242037 KEEP 0 0 0 44 1508 GG 1 1 0 + 9 60 327 0 0 20.337624 231 60 7814 348 ENST00000397064.2 0.0375 1 CEBPZ 10153 __UNKNOWN__ __UNKNOWN__ 2 37458711 37458711 __UNKNOWN__ 5'UTR SNP G G A rs3213745 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:37458711G>A ENST00000234170.5 - 0 145 NM_005760.2 NP_005751.2 Q03701 CEBPZ_HUMAN CCAAT/enhancer binding protein (C/EBP), zeta NA NA positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366) nucleus (GO:0005634) DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077) breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 28 all_hematologic(82;0.21) CTGCGGCCATGGCGGGCAAAG 0.587 NA G||| 1468 0.293131 0.1634 0.3314 5008 , , NA 18528 0.37 NA 0.4235 False NA ,,, NA NA NA 2504 0.228 NA NA NA NA 0 G 818,3588 307.7+/-290.2 77,664,1462 49 56 54 -2 0 2 dbSNP_106 54 3424,5176 495.9+/-374.2 691,2042,1567 no utr-5 CEBPZ NM_005760.2 768,2706,3029 AA,AG,GG 39.814,18.5656,32.6157 37458711 4242,8764 2203 4300 6503 SO:0001623 5_prime_UTR_variant M37197 CCDS1787.1 2p22.3 2008-09-03 2008-09-03 ENSG00000115816 ENSG00000115816 10153 24218 protein-coding gene gene with protein product 612828 NA 2247079, 12534345 Standard NM_005760 NM_005760 NA Approved CBF2, CTF2 uc002rpz.3 Q03701 OTTHUMG00000100960 ENST00000234170.5:c.-1C>T chr2.hg19:g.37458711G>A NA Q8NE75 hg19 CCDS1787.1 0.02 21.489442 CATxGCG COVERED NOVEL CEBPZ-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000218569.2 4 73.7226 KEEP 0 0 0 245 8470 GG 1 1 0 - 21 60 761 0 0 47.48426 525 60 19520 933 ENST00000234170.5 0.038462 1 PRKD3 23683 __UNKNOWN__ __UNKNOWN__ 2 37477914 37477914 __UNKNOWN__ 3'UTR SNP A A G rs9318 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:37477914A>G ENST00000379066.1 - 0 5841 PRKD3_ENST00000234179.2_3'UTR O94806 KPCD3_HUMAN protein kinase D3 NA NA intracellular signal transduction (GO:0035556)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468) cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697) breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 all_hematologic(82;0.21) GTTGGATATAACCAAAAAAAT 0.274 NA A||| 1023 0.204273 0.152 0.2017 5008 , , NA 16302 0.2351 NA 0.1342 False NA ,,, NA NA NA 2504 0.317 NA NA NA Melanoma(80;621 1355 8613 11814 51767) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB015982 CCDS1789.1 2p21 2013-01-10 2004-10-28 2004-10-30 ENSG00000115825 ENSG00000115825 23683 Pleckstrin homology (PH) domain containing 9408 protein-coding gene gene with protein product 607077 protein kinase C, nu PRKCN NA 10231560 Standard NM_005813 NM_005813 NA Approved EPK2 uc002rqd.3 O94806 OTTHUMG00000100961 ENST00000379066.1:c.*2406T>C chr2.hg19:g.37477914A>G NA D6W587|Q53TR7|Q8NEL8 hg19 CCDS1789.1 0.02 6.819055 ATAxCCA COVERED NOVEL PRKD3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000218570.3 3 9.328155 KEEP 0 0 0 31 990 AA 0.999997 0.999997 0 - 6 60 229 0 0 14.401904 170 60 6086 244 ENST00000379066.1 0.034091 1 RMDN2 151393 __UNKNOWN__ __UNKNOWN__ 2 38178362 38178362 __UNKNOWN__ Intron SNP T T C rs2197561 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:38178362T>C ENST00000406384.1 + 2 646 RMDN2_ENST00000234195.3_Intron|RMDN2_ENST00000402091.3_Intron|RMDN2_ENST00000417700.2_Intron|RMDN2_ENST00000354545.2_Intron|RMDN2_ENST00000407257.1_Intron|RMDN2-AS1_ENST00000414365.2_RNA NM_001170792.1 NP_001164263.1 Q96LZ7 RMD2_HUMAN regulator of microtubule dynamics 2 NA NA cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739) NA ATTTGACCCTTTTCTCACTCT 0.458 NA T||| 1970 0.393371 0.3442 0.4697 5008 , , NA 18529 0.6587 NA 0.2475 False NA ,,, NA NA NA 2504 0.2822 NA NA NA NA 0 T ,,, 1487,2919 458.4+/-352.0 249,989,965 53 55 54 ,,, 4 1 2 dbSNP_96 54 2163,6435 360.8+/-332.1 268,1627,2404 no intron,intron,intron,intron FAM82A1 NM_001170791.1,NM_001170792.1,NM_001170793.1,NM_144713.3 ,,, 517,2616,3369 CC,CT,TT 25.157,33.7494,28.0683 ,,, ,,, 38178362 3650,9354 2203 4299 6502 SO:0001627 intron_variant AK057516 CCDS1792.1, CCDS54351.1, CCDS54352.1 2p22.2 2013-01-11 2013-01-11 2013-01-11 ENSG00000115841 ENSG00000115841 151393 26567 protein-coding gene gene with protein product 611872 family with sequence similarity 82, member A1 FAM82A, FAM82A1 NA 12477932 Standard NM_144713 XM_005264161 NA Approved FLJ32954, RMD2 uc002rqn.2 Q96LZ7 OTTHUMG00000128487 ENST00000406384.1:c.452+21490T>C chr2.hg19:g.38178362T>C NA A9UMZ7|A9UN00|Q4ZG33|Q6UXN4|Q8N657|Q8N9A2|Q8NCV6|Q8NHM0 hg19 CCDS54351.1 0.02 2.019276 CCTxTTC COVERED NOVEL RMDN2-004 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000325577.1 1 3.910535 KEEP 0 0 0 13 374 TT 0.994391 0.994347 0 + 7 60 270 0 0 19.39127 91 60 3217 119 ENST00000406384.1 0.071429 0.999956 RMDN2 151393 __UNKNOWN__ __UNKNOWN__ 2 38218281 38218281 __UNKNOWN__ Intron SNP T T C rs17021813 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:38218281T>C ENST00000406384.1 + 7 1061 RMDN2_ENST00000234195.3_Intron|RMDN2_ENST00000417700.2_Intron|RMDN2_ENST00000354545.2_Intron|RMDN2_ENST00000407257.1_Intron|RMDN2-AS1_ENST00000414365.2_RNA NM_001170792.1 NP_001164263.1 Q96LZ7 RMD2_HUMAN regulator of microtubule dynamics 2 NA NA cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739) NA AAAACCACTTTTGAGTTACTA 0.328 NA T||| 1121 0.223842 0.0083 0.3559 5008 , , NA 15301 0.6161 NA 0.1093 False NA ,,, NA NA NA 2504 0.135 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK057516 CCDS1792.1, CCDS54351.1, CCDS54352.1 2p22.2 2013-01-11 2013-01-11 2013-01-11 ENSG00000115841 ENSG00000115841 151393 26567 protein-coding gene gene with protein product 611872 family with sequence similarity 82, member A1 FAM82A, FAM82A1 NA 12477932 Standard NM_144713 XM_005264161 NA Approved FLJ32954, RMD2 uc002rqn.2 Q96LZ7 OTTHUMG00000128487 ENST00000406384.1:c.868-82T>C chr2.hg19:g.38218281T>C NA A9UMZ7|A9UN00|Q4ZG33|Q6UXN4|Q8N657|Q8N9A2|Q8NCV6|Q8NHM0 hg19 CCDS54351.1 0.02 4.071096 CTTxTGA COVERED NOVEL RMDN2-004 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000325577.1 0 5.716206 KEEP 0 0 0 19 595 TT 0.99986 0.999859 0 + 5 60 186 0 0 11.855079 121 60 4398 190 ENST00000406384.1 0.039683 1 RMDN2 151393 __UNKNOWN__ __UNKNOWN__ 2 38244818 38244818 __UNKNOWN__ 3'UTR SNP A A C rs11901988 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:38244818A>C ENST00000406384.1 + 0 1863 RMDN2_ENST00000469469.1_Intron|RMDN2_ENST00000234195.3_Intron|RMDN2_ENST00000417700.2_3'UTR|RMDN2-AS1_ENST00000414365.2_RNA NM_001170792.1 NP_001164263.1 Q96LZ7 RMD2_HUMAN regulator of microtubule dynamics 2 NA NA cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739) NA aaaacaaacaaatgtagtatt 0.323 NA A||| 2054 0.410144 0.5113 0.4741 5008 , , NA 17428 0.5536 NA 0.2346 False NA ,,, NA NA NA 2504 0.2607 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK057516 CCDS1792.1, CCDS54351.1, CCDS54352.1 2p22.2 2013-01-11 2013-01-11 2013-01-11 ENSG00000115841 ENSG00000115841 151393 26567 protein-coding gene gene with protein product 611872 family with sequence similarity 82, member A1 FAM82A, FAM82A1 NA 12477932 Standard NM_144713 XM_005264161 NA Approved FLJ32954, RMD2 uc002rqn.2 Q96LZ7 OTTHUMG00000128487 ENST00000406384.1:c.*436A>C chr2.hg19:g.38244818A>C NA A9UMZ7|A9UN00|Q4ZG33|Q6UXN4|Q8N657|Q8N9A2|Q8NCV6|Q8NHM0 hg19 CCDS54351.1 0.02 27.96081 ACAxATG COVERED NOVEL RMDN2-004 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000325577.1 6 24.069751 KEEP 0 0 0 80 2490 AA 1 1 0 + 19 60 731 0 0 45.219273 607 60 22071 885 ENST00000406384.1 0.030351 1 RMDN2 151393 __UNKNOWN__ __UNKNOWN__ 2 38244824 38244824 __UNKNOWN__ 3'UTR SNP G G A rs11891536 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:38244824G>A ENST00000406384.1 + 0 1869 RMDN2_ENST00000469469.1_Intron|RMDN2_ENST00000234195.3_Intron|RMDN2_ENST00000417700.2_3'UTR|RMDN2-AS1_ENST00000414365.2_RNA NM_001170792.1 NP_001164263.1 Q96LZ7 RMD2_HUMAN regulator of microtubule dynamics 2 NA NA cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739) NA aacaaatgtagtattgtaact 0.323 NA G||| 2026 0.404553 0.4924 0.4697 5008 , , NA 17208 0.5536 NA 0.2346 False NA ,,, NA NA NA 2504 0.2607 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK057516 CCDS1792.1, CCDS54351.1, CCDS54352.1 2p22.2 2013-01-11 2013-01-11 2013-01-11 ENSG00000115841 ENSG00000115841 151393 26567 protein-coding gene gene with protein product 611872 family with sequence similarity 82, member A1 FAM82A, FAM82A1 NA 12477932 Standard NM_144713 XM_005264161 NA Approved FLJ32954, RMD2 uc002rqn.2 Q96LZ7 OTTHUMG00000128487 ENST00000406384.1:c.*442G>A chr2.hg19:g.38244824G>A NA A9UMZ7|A9UN00|Q4ZG33|Q6UXN4|Q8N657|Q8N9A2|Q8NCV6|Q8NHM0 hg19 CCDS54351.1 0.02 26.174043 GTAxTAT COVERED NOVEL RMDN2-004 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000325577.1 6 23.176155 KEEP 0 0 0 77 2784 GG 1 1 0 + 19 60 702 0 0 42.651938 583 60 22301 846 ENST00000406384.1 0.031561 1 CYP1B1 1545 __UNKNOWN__ __UNKNOWN__ 2 38296790 38296790 __UNKNOWN__ 3'UTR SNP C C G rs77105857 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:38296790C>G ENST00000260630.3 - 0 3108 NM_000104.3 NP_000095 Q16678 CP1B1_HUMAN cytochrome P450, family 1, subfamily B, polypeptide 1 NA NA angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|blood vessel morphogenesis (GO:0048514)|cell adhesion (GO:0007155)|cellular aromatic compound metabolic process (GO:0006725)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to organic cyclic compound (GO:0071407)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell-cell adhesion (GO:0071603)|epoxygenase P450 pathway (GO:0019373)|estrogen metabolic process (GO:0008210)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|membrane lipid catabolic process (GO:0046466)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nitric oxide biosynthetic process (GO:0006809)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to toxic substance (GO:0009636)|retinal blood vessel morphogenesis (GO:0061304)|retinal metabolic process (GO:0042574)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|toxin metabolic process (GO:0009404)|trabecular meshwork development (GO:0002930)|visual perception (GO:0007601)|xenobiotic metabolic process (GO:0006805) endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739) aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825) breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1) 13 all_hematologic(82;0.21) Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Biotin(DB00121)|Caffeine(DB00201)|Clozapine(DB00363)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Flutamide(DB00499)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Melatonin(DB01065)|Mitoxantrone(DB01204)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Primaquine(DB01087)|Procarbazine(DB01168)|Progesterone(DB00396)|Propofol(DB00818)|Tamoxifen(DB00675)|Testosterone(DB00624)|Theophylline(DB00277) AGAAAAGAAACCCTGCTTCAT 0.284 NA C||| 15 0.00299521 0.0 0.0 5008 , , NA 15723 0.0129 NA 0.0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U56438 CCDS1793.1 2p22.2 2008-02-05 2003-01-14 ENSG00000138061 ENSG00000138061 1545 Cytochrome P450s 2597 protein-coding gene gene with protein product 601771 cytochrome P450, subfamily I (dioxin-inducible), polypeptide 1 (glaucoma 3, primary infantile) GLC3A NA 8175734, 15128046 Standard NM_000104 NM_000104 NA Approved CP1B uc002rqo.2 Q16678 OTTHUMG00000100970 ENST00000260630.3:c.*1075G>C chr2.hg19:g.38296790C>G NA Q5TZW8|Q93089|Q9H316 hg19 CCDS1793.1 0.02 9.220367 AAAxCCT COVERED NOVEL CYP1B1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000218580.3 1 17.757252 KEEP 0 0 0 59 2077 CC 1 1 0 - 7 60 269 0 0 16.772154 213 60 8034 363 ENST00000260630.3 0.031818 1 CYP1B1 1545 __UNKNOWN__ __UNKNOWN__ 2 38302544 38302544 __UNKNOWN__ Intron SNP G G A rs2617266 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:38302544G>A ENST00000260630.3 - 2 401 CYP1B1_ENST00000407341.1_Intron|CYP1B1_ENST00000494864.1_Intron NM_000104.3 NP_000095 Q16678 CP1B1_HUMAN cytochrome P450, family 1, subfamily B, polypeptide 1 NA NA angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|blood vessel morphogenesis (GO:0048514)|cell adhesion (GO:0007155)|cellular aromatic compound metabolic process (GO:0006725)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to organic cyclic compound (GO:0071407)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell-cell adhesion (GO:0071603)|epoxygenase P450 pathway (GO:0019373)|estrogen metabolic process (GO:0008210)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|membrane lipid catabolic process (GO:0046466)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nitric oxide biosynthetic process (GO:0006809)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to toxic substance (GO:0009636)|retinal blood vessel morphogenesis (GO:0061304)|retinal metabolic process (GO:0042574)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|toxin metabolic process (GO:0009404)|trabecular meshwork development (GO:0002930)|visual perception (GO:0007601)|xenobiotic metabolic process (GO:0006805) endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739) aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825) breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1) 13 all_hematologic(82;0.21) Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Biotin(DB00121)|Caffeine(DB00201)|Clozapine(DB00363)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Flutamide(DB00499)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Melatonin(DB01065)|Mitoxantrone(DB01204)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Primaquine(DB01087)|Procarbazine(DB01168)|Progesterone(DB00396)|Propofol(DB00818)|Tamoxifen(DB00675)|Testosterone(DB00624)|Theophylline(DB00277) TGGGGACAGAGAGGAGAAGGC 0.672 NA A||| 1473 0.294129 0.2821 0.2839 5008 , , NA 15989 0.1806 NA 0.2853 False NA ,,, NA NA NA 2504 0.4438 NA NA NA NA 0 A 1132,3270 693.4+/-405.7 153,826,1222 42 41 41 -0.5 0 2 dbSNP_100 41 2349,6251 685.0+/-404.0 332,1685,2283 no intron CYP1B1 NM_000104.3 485,2511,3505 AA,AG,GG 27.314,25.7156,26.7728 38302544 3481,9521 2201 4300 6501 SO:0001627 intron_variant U56438 CCDS1793.1 2p22.2 2008-02-05 2003-01-14 ENSG00000138061 ENSG00000138061 1545 Cytochrome P450s 2597 protein-coding gene gene with protein product 601771 cytochrome P450, subfamily I (dioxin-inducible), polypeptide 1 (glaucoma 3, primary infantile) GLC3A NA 8175734, 15128046 Standard NM_000104 NM_000104 NA Approved CP1B uc002rqo.2 Q16678 OTTHUMG00000100970 ENST00000260630.3:c.1-12C>T chr2.hg19:g.38302544G>A NA Q5TZW8|Q93089|Q9H316 hg19 CCDS1793.1 0.02 1.897292 AGAxAGG COVERED NOVEL CYP1B1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000218580.3 1 7.824712 KEEP 0 0 0 26 875 GG 0.999957 0.979484 0 - 5 60 173 0 0 12.370022 51 60 1912 103 ENST00000260630.3 0.089286 0.979526 AC009229.5 0 __UNKNOWN__ __UNKNOWN__ 2 38459015 38459015 __UNKNOWN__ lincRNA SNP G G C rs10221962 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:38459015G>C ENST00000450854.1 - 0 533 NA NA NA ATGGTGTGAGGCCAAAGGTCC 0.438 NA C||| 1379 0.275359 0.4508 0.1873 5008 , , NA 21288 0.1171 NA 0.1998 False NA ,,, NA NA NA 2504 0.3415 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000450854.1: chr2.hg19:g.38459015G>C NA hg19 0.02 2.299686 GAGxCCA COVERED NOVEL AC009229.5-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000325655.2 1 6.019803 KEEP 0 0 0 20 722 GG 0.999863 0.994947 0 - 4 60 141 0 0 9.431559 63 60 2324 107 ENST00000450854.1 0.059701 0.995084 HNRNPLL 92906 __UNKNOWN__ __UNKNOWN__ 2 38790515 38790515 __UNKNOWN__ 3'UTR SNP T T G rs76401936 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:38790515T>G ENST00000449105.3 - 0 2777 HNRNPLL_ENST00000378915.3_3'UTR|HNRNPLL_ENST00000608859.1_3'UTR|HNRNPLL_ENST00000409636.1_3'UTR Q8WVV9 HNRLL_HUMAN heterogeneous nuclear ribonucleoprotein L-like NA NA mRNA processing (GO:0006397)|positive regulation of RNA splicing (GO:0033120) membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529) mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822) NA gtacacagattctctgaagcc 0.299 NA T||| 32 0.00638978 0.0 0.0 5008 , , NA 15639 0.0308 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC008217 CCDS46261.1, CCDS1796.2 2p22 2014-02-10 2013-06-12 ENSG00000143889 ENSG00000143889 92906 RNA binding motif (RRM) containing 25127 protein-coding gene gene with protein product 611208 HNRPLL NA 18669861 Standard NM_138394 NM_138394 NA Approved uc021vgc.1 Q8WVV9 OTTHUMG00000102075 ENST00000449105.3:c.*809A>C chr2.hg19:g.38790515T>G NA Q53T80|Q5JB51|Q5JB52|Q659B9|Q8IVH5|Q8IVH6|Q96HR5 hg19 0.02 6.33188 GATxCTC COVERED NOVEL HNRNPLL-001 KNOWN non_canonical_conserved|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000219887.2 2 15.948002 KEEP 0 0 0 53 1663 TT 1 1 0 - 6 60 229 0 0 14.255381 180 60 6452 285 ENST00000449105.3 0.032258 1 GALM 130589 __UNKNOWN__ __UNKNOWN__ 2 38916906 38916906 __UNKNOWN__ Intron SNP T T C rs11687518 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:38916906T>C ENST00000272252.5 + 4 804 GALM_ENST00000410063.1_Intron NM_138801.2 NP_620156.1 Q96C23 GALM_HUMAN galactose mutarotase (aldose 1-epimerase) NA NA galactose metabolic process (GO:0006012)|glucose metabolic process (GO:0006006) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062) aldose 1-epimerase activity (GO:0004034)|carbohydrate binding (GO:0030246) NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 14 all_hematologic(82;0.248) AAAACAAATATATGAAATAAG 0.323 NA T||| 1013 0.202276 0.0477 0.2968 5008 , , NA 18517 0.1875 NA 0.3121 False NA ,,, NA NA NA 2504 0.2464 NA NA NA NA 0 T 474,3932 220.7+/-238.1 31,412,1760 60 67 65 0.3 0 2 dbSNP_120 65 2708,5892 432.3+/-357.1 435,1838,2027 no intron GALM NM_138801.2 466,2250,3787 CC,CT,TT 31.4884,10.7581,24.4656 38916906 3182,9824 2203 4300 6503 SO:0001627 intron_variant CCDS1797.1 2p22.3 2008-02-05 ENSG00000143891 ENSG00000143891 130589 24063 protein-coding gene gene with protein product aldose 1 epimerase 608883 NA 12753898 Standard NM_138801 NM_138801 NA Approved uc002rqy.3 Q96C23 OTTHUMG00000102077 ENST00000272252.5:c.553-49T>C chr2.hg19:g.38916906T>C NA Q53RY1|Q8NIA2|V9HWA8 hg19 CCDS1797.1 0.02 10.125225 ATAxATG COVERED NOVEL GALM-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000219891.2 0 10.230317 KEEP 0 0 0 34 1045 TT 0.999998 0.999998 0 + 9 60 347 0 0 22.922839 198 60 7207 277 ENST00000272252.5 0.043478 1 GALM 130589 __UNKNOWN__ __UNKNOWN__ 2 38960967 38960967 __UNKNOWN__ 3'UTR SNP G G A rs3112178 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:38960967G>A ENST00000272252.5 + 0 1541 GALM_ENST00000410063.1_3'UTR NM_138801.2 NP_620156.1 Q96C23 GALM_HUMAN galactose mutarotase (aldose 1-epimerase) NA NA galactose metabolic process (GO:0006012)|glucose metabolic process (GO:0006006) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062) aldose 1-epimerase activity (GO:0004034)|carbohydrate binding (GO:0030246) NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 14 all_hematologic(82;0.248) TCTAAGCCCTGACCCTAGCCA 0.507 NA G||| 862 0.172125 0.1051 0.268 5008 , , NA 20186 0.1141 NA 0.2465 False NA ,,, NA NA NA 2504 0.1779 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS1797.1 2p22.3 2008-02-05 ENSG00000143891 ENSG00000143891 130589 24063 protein-coding gene gene with protein product aldose 1 epimerase 608883 NA 12753898 Standard NM_138801 NM_138801 NA Approved uc002rqy.3 Q96C23 OTTHUMG00000102077 ENST00000272252.5:c.*260G>A chr2.hg19:g.38960967G>A NA Q53RY1|Q8NIA2|V9HWA8 hg19 CCDS1797.1 0.02 8.800525 CCTxACC COVERED NOVEL GALM-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000219891.2 1 10.668106 KEEP 0 1 30 46 1618 GG 1 1 0 + 7 60 264 0 0 16.402053 204 60 7622 300 ENST00000272252.5 0.033175 1 SLC8A1 6546 __UNKNOWN__ __UNKNOWN__ 2 40339717 40339717 __UNKNOWN__ 3'UTR SNP T T G rs5553 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:40339717T>G ENST00000406785.2 - 0 5679 SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000542756.1_3'UTR|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 NA NA blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829) basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018) ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872) NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) AGTGCAAAAATTTTTCTAATG 0.279 NA T||| 388 0.077476 0.1021 0.0504 5008 , , NA 15642 0.1141 NA 0.0606 False NA ,,, NA NA NA 2504 0.0429 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1 2p22.1 2013-07-15 ENSG00000183023 ENSG00000183023 6546 Solute carriers 11068 protein-coding gene gene with protein product Na+/Ca++ exchanger 182305 NCX1 NA 1559714 Standard NM_021097 NM_021097 NA Approved uc002rrx.3 P32418 OTTHUMG00000102183 ENST00000406785.2:c.*2676A>C chr2.hg19:g.40339717T>G NA A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6 hg19 CCDS46264.1 0.02 6.414079 AAAxTTT COVERED NOVEL SLC8A1-005 KNOWN alternative_5_UTR|basic|CCDS protein_coding NA protein_coding OTTHUMT00000326025.2 2 15.945355 KEEP 0 0 0 53 1643 TT 1 1 0 - 9 70 333 0 0 21.90762 179 70 6425 264 ENST00000406785.2 0.047872 1 SLC8A1 6546 __UNKNOWN__ __UNKNOWN__ 2 40341605 40341605 __UNKNOWN__ 3'UTR SNP G G A rs5543 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:40341605G>A ENST00000406785.2 - 0 3791 SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000542756.1_3'UTR|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 NA NA blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829) basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018) ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872) NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) GCTGGAAGAAGGACCTTGCCA 0.502 NA G||| 1703 0.340056 0.1831 0.2853 5008 , , NA 19470 0.6409 NA 0.2366 False NA ,,, NA NA NA 2504 0.3875 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1 2p22.1 2013-07-15 ENSG00000183023 ENSG00000183023 6546 Solute carriers 11068 protein-coding gene gene with protein product Na+/Ca++ exchanger 182305 NCX1 NA 1559714 Standard NM_021097 NM_021097 NA Approved uc002rrx.3 P32418 OTTHUMG00000102183 ENST00000406785.2:c.*788C>T chr2.hg19:g.40341605G>A NA A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6 hg19 CCDS46264.1 0.02 6.42624 GAAxGAC COVERED NOVEL SLC8A1-005 KNOWN alternative_5_UTR|basic|CCDS protein_coding NA protein_coding OTTHUMT00000326025.2 0 9.931169 KEEP 0 0 0 33 1127 GG 0.999998 0.999998 0 - 7 60 261 0 0 16.298645 191 60 7059 257 ENST00000406785.2 0.035354 1 SLC8A1 6546 __UNKNOWN__ __UNKNOWN__ 2 40341847 40341847 __UNKNOWN__ 3'UTR SNP C C T rs5541 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:40341847C>T ENST00000406785.2 - 0 3549 SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000542756.1_3'UTR|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 NA NA blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829) basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018) ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872) NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) TTTGGTAATACGATGAAGACA 0.413 NA C||| 1270 0.253594 0.0371 0.2277 5008 , , NA 18233 0.5367 NA 0.1829 False NA ,,, NA NA NA 2504 0.3456 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1 2p22.1 2013-07-15 ENSG00000183023 ENSG00000183023 6546 Solute carriers 11068 protein-coding gene gene with protein product Na+/Ca++ exchanger 182305 NCX1 NA 1559714 Standard NM_021097 NM_021097 NA Approved uc002rrx.3 P32418 OTTHUMG00000102183 ENST00000406785.2:c.*546G>A chr2.hg19:g.40341847C>T NA A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6 hg19 CCDS46264.1 0.02 4.481488 ATAxGAT COVERED NOVEL SLC8A1-005 KNOWN alternative_5_UTR|basic|CCDS protein_coding NA protein_coding OTTHUMT00000326025.2 1 8.1243 KEEP 0 0 0 27 906 CC 0.999988 0.999961 0 - 7 60 264 0 0 18.667001 95 60 3264 152 ENST00000406785.2 0.068627 0.999973 C2orf91 400950 __UNKNOWN__ __UNKNOWN__ 2 42165462 42165462 __UNKNOWN__ 3'UTR SNP A A G rs7602635 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:42165462A>G ENST00000378711.2 - 0 766 NM_001242815.1 NP_001229744.1 Q6ZV80 CB091_HUMAN chromosome 2 open reading frame 91 NA NA NA CTGGGCCCTTATCCTGCAGCT 0.582 NA A||| 1454 0.290335 0.388 0.3919 5008 , , NA 16687 0.2381 NA 0.2773 False NA ,,, NA NA NA 2504 0.1534 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS56116.1 2p21 2012-02-17 ENSG00000205086 ENSG00000205086 400950 42966 protein-coding gene gene with protein product NA Standard NM_001242815 NM_001242815 NA Approved uc002rsf.1 Q6ZV80 OTTHUMG00000152307 ENST00000378711.2:c.*281T>C chr2.hg19:g.42165462A>G NA hg19 CCDS56116.1 0.02 6.839587 CTTxTCC COVERED NOVEL C2orf91-001 NOVEL basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000325755.1 1 19.847401 KEEP 0 0 0 66 1935 AA 1 1 0 - 6 60 231 0 0 15.009708 145 60 5169 254 ENST00000378711.2 0.039735 1 C2orf91 400950 __UNKNOWN__ __UNKNOWN__ 2 42165754 42165754 __UNKNOWN__ Splice_Site SNP C C T rs10192292 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:42165754C>T ENST00000378711.2 - 4 475 c.e4-1 NM_001242815.1 NP_001229744.1 Q6ZV80 CB091_HUMAN chromosome 2 open reading frame 91 NA NA NA CAGGTGGAACCTGCAAGAAAG 0.522 NA C||| 1263 0.252196 0.2557 0.3703 5008 , , NA 18626 0.2381 NA 0.2773 False NA ,,, NA NA NA 2504 0.1524 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001630 splice_region_variant CCDS56116.1 2p21 2012-02-17 ENSG00000205086 ENSG00000205086 400950 42966 protein-coding gene gene with protein product NA Standard NM_001242815 NM_001242815 NA Approved uc002rsf.1 Q6ZV80 OTTHUMG00000152307 ENST00000378711.2:c.386-1G>A chr2.hg19:g.42165754C>T NA hg19 CCDS56116.1 0.02 17.880166 AACxTGC COVERED 607 0.27793040293040294 115 0.23373983739837398 138 0.3812154696132597 149 0.26048951048951047 205 0.2704485488126649 C 13.75 2.330050 0.41297 . . ENSG00000205086 ENST00000378711 . . . 3.16 -0.673 0.11373 . . . . . . . . . . . 0.47737 P 4.96000000000052E-4 . . . . . . . . . . . . . . 3.3978 0.07312 0.0:0.4572:0.208:0.3348 rs10192292;rs56746019 . . . . -1 . . . - . . AC013480.1 42019258 0.000000 0.05858 0.005000 0.12908 0.873000 0.50193 -0.302000 0.08221 -0.124000 0.11724 0.561000 0.74099 . NOVEL C2orf91-001 NOVEL basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000325755.1 3 68.616791 KEEP 0 0 0 228 8082 CC 1 1 0 Intron - 25 60 919 0 0 62.009024 421 60 15844 848 ENST00000378711.2 0.056054 1 C2orf91 400950 __UNKNOWN__ __UNKNOWN__ 2 42174733 42174733 __UNKNOWN__ Intron SNP A A G rs28548998 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:42174733A>G ENST00000378711.2 - 3 398 NM_001242815.1 NP_001229744.1 Q6ZV80 CB091_HUMAN chromosome 2 open reading frame 91 NA NA NA aagaacattaaagagttttag 0.413 NA A||| 553 0.110423 0.1157 0.2406 5008 , , NA 20300 0.0823 NA 0.1113 False NA ,,, NA NA NA 2504 0.0389 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS56116.1 2p21 2012-02-17 ENSG00000205086 ENSG00000205086 400950 42966 protein-coding gene gene with protein product NA Standard NM_001242815 NM_001242815 NA Approved uc002rsf.1 Q6ZV80 OTTHUMG00000152307 ENST00000378711.2:c.309-22T>C chr2.hg19:g.42174733A>G NA hg19 CCDS56116.1 0.02 14.52638 TTAxAGA COVERED NOVEL C2orf91-001 NOVEL basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000325755.1 2 53.556454 KEEP 0 0 0 178 5540 AA 1 1 0 - 19 60 720 0 0 49.796741 300 60 10880 622 ENST00000378711.2 0.059561 1 EML4 27436 __UNKNOWN__ __UNKNOWN__ 2 42515437 42515437 __UNKNOWN__ Missense_Mutation SNP A A G rs28651764 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:42515437A>G ENST00000318522.5 + 11 1455 c.1193A>G c.(1192-1194)aAg>aGg p.K398R EML4_ENST00000402711.2_Missense_Mutation_p.K340R|EML4_ENST00000401738.3_Missense_Mutation_p.K409R NM_019063.3 NP_061936 Q9HC35 EMAL4_HUMAN echinoderm microtubule associated protein like 4 398 NA K -> R (in dbSNP:rs28651764). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}. microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026) cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686) EML4/ALK(543) NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 12 GACTGGCAGAAGAAAGCAAAA 0.333 NA T ALK NSCLC A||| 1365 0.272564 0.1679 0.1657 5008 , , NA 17440 0.5784 NA 0.3131 False NA ,,, NA NA NA 2504 0.1329 NA NA NA Dom yes 2 2p21 27436 echinoderm microtubule associated protein like 4 E 0 A ARG/LYS,ARG/LYS 765,3641 306.6+/-289.6 80,605,1518 128 133 131 1019,1193 1.8 1 2 dbSNP_125 131 2649,5951 425.5+/-355.0 406,1837,2057 yes missense,missense EML4 NM_001145076.1,NM_019063.3 26,26 486,2442,3575 GG,GA,AA 30.8023,17.3627,26.2494 benign,benign 340/924,398/982 42515437 3414,9592 2203 4300 6503 SO:0001583 missense AF177377 CCDS1807.1, CCDS46266.1 2p21 2013-01-10 2002-02-15 ENSG00000143924 ENSG00000143924 27436 WD repeat domain containing 1316 protein-coding gene gene with protein product 607442 C2orf2 NA Standard NM_019063 NM_019063 NA Approved ROPP120, ELP120 uc002rsi.3 Q9HC35 OTTHUMG00000128603 ENST00000318522.5:c.1193A>G chr2.hg19:g.42515437A>G ENSP00000320663:p.Lys398Arg NA A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40 hg19 CCDS1807.1 0.02 4.084857 AGAxGAA COVERED 716 0.32783882783882784 83 0.16869918699186992 74 0.20441988950276244 310 0.541958041958042 249 0.32849604221635886 A 13.48 2.249720 0.39797 0.173627 0.308023 ENSG00000143924 ENST00000318522;ENST00000402711;ENST00000401738 T;T;T 0.56941 0.43;0.43;0.43 5.43 1.76 0.24704 WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1); 0.100460 0.64402 N 0.000003 T 0.00012 0.0000 N 0.13168 0.305 0.09310 P 0.9999999999936345 B;B;B 0.10296 0.003;0.003;0.002 B;B;B 0.13407 0.005;0.009;0.006 T 0.48502 -0.9030 9 0.20519 T 0.43 -9.7437 9.4373 0.38646 0.7214:0.0:0.2786:0.0 rs28651764 340;409;398 B5MCW9;B5MBZ0;Q9HC35 .;.;EMAL4_HUMAN R 398;340;409 ENSP00000320663:K398R;ENSP00000385059:K340R;ENSP00000384939:K409R ENSP00000320663:K398R K + 2 0 EML4 42368941 1.000000 0.71417 0.998000 0.56505 0.992000 0.81027 3.107000 0.50329 0.352000 0.24053 0.482000 0.46254 AAG NOVEL EML4-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000250463.3 0 11.135024 KEEP 0 0 0 37 1233 AA 1 0.999995 0 + 5 60 179 0 0 11.396265 108 60 4058 198 ENST00000318522.5 0.044248 0.999995 EML4 27436 __UNKNOWN__ __UNKNOWN__ 2 42515501 42515501 __UNKNOWN__ Intron SNP C C T rs10179237 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:42515501C>T ENST00000318522.5 + 11 1480 EML4_ENST00000402711.2_Intron|EML4_ENST00000401738.3_Intron NM_019063.3 NP_061936 Q9HC35 EMAL4_HUMAN echinoderm microtubule associated protein like 4 NA NA microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026) cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686) EML4/ALK(543) NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 12 TTTTAGAGTACGTTACTTGTT 0.348 NA T ALK NSCLC C||| 1056 0.210863 0.413 0.1527 5008 , , NA 18375 0.1528 NA 0.1312 False NA ,,, NA NA NA 2504 0.1207 NA NA NA Dom yes 2 2p21 27436 echinoderm microtubule associated protein like 4 E 0 C , 1569,2837 462.1+/-353.1 282,1005,916 52 56 55 , -1.1 0 2 dbSNP_119 55 1193,7407 238.6+/-270.0 90,1013,3197 no intron,intron EML4 NM_001145076.1,NM_019063.3 , 372,2018,4113 TT,TC,CC 13.8721,35.6105,21.2364 , , 42515501 2762,10244 2203 4300 6503 SO:0001627 intron_variant AF177377 CCDS1807.1, CCDS46266.1 2p21 2013-01-10 2002-02-15 ENSG00000143924 ENSG00000143924 27436 WD repeat domain containing 1316 protein-coding gene gene with protein product 607442 C2orf2 NA Standard NM_019063 NM_019063 NA Approved ROPP120, ELP120 uc002rsi.3 Q9HC35 OTTHUMG00000128603 ENST00000318522.5:c.1218+39C>T chr2.hg19:g.42515501C>T NA A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40 hg19 CCDS1807.1 0.02 2.222146 GTAxGTT COVERED NOVEL EML4-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000250463.3 0 4.813869 KEEP 0 0 0 16 519 CC 0.997832 0.99653 0 + 5 60 185 0 0 12.885204 71 60 2333 104 ENST00000318522.5 0.065789 0.998696 EML4 27436 __UNKNOWN__ __UNKNOWN__ 2 42553210 42553210 __UNKNOWN__ Intron SNP C C A rs2286703 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:42553210C>A ENST00000318522.5 + 21 2504 EML4_ENST00000402711.2_Intron|EML4_ENST00000401738.3_Intron|EML4_ENST00000453191.2_Intron NM_019063.3 NP_061936 Q9HC35 EMAL4_HUMAN echinoderm microtubule associated protein like 4 NA NA microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026) cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686) EML4/ALK(543) NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 12 TACAAGTAAACGTGGCTAGTT 0.308 NA T ALK NSCLC C||| 1105 0.220647 0.0605 0.1427 5008 , , NA 17238 0.5556 NA 0.2694 False NA ,,, NA NA NA 2504 0.0971 NA NA NA Dom yes 2 2p21 27436 echinoderm microtubule associated protein like 4 E 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF177377 CCDS1807.1, CCDS46266.1 2p21 2013-01-10 2002-02-15 ENSG00000143924 ENSG00000143924 27436 WD repeat domain containing 1316 protein-coding gene gene with protein product 607442 C2orf2 NA Standard NM_019063 NM_019063 NA Approved ROPP120, ELP120 uc002rsi.3 Q9HC35 OTTHUMG00000128603 ENST00000318522.5:c.2243-84C>A chr2.hg19:g.42553210C>A NA A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40 hg19 CCDS1807.1 0.02 7.982352 AAAxGTG COVERED NOVEL EML4-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000250463.3 0 9.028892 KEEP 0 0 0 30 1026 CC 0.999997 0.999997 0 + 7 60 246 0 0 14.740466 195 60 7164 247 ENST00000318522.5 0.034653 1 COX7A2L 9167 __UNKNOWN__ __UNKNOWN__ 2 42577170 42577170 __UNKNOWN__ 3'UTR SNP A A G rs1981664 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:42577170A>G ENST00000378669.1 - 0 2363 O14548 COX7R_HUMAN cytochrome c oxidase subunit VIIa polypeptide 2 like NA NA cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281) mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746) cytochrome-c oxidase activity (GO:0004129) lung(4) 4 aaaaacttggaggaaataCCA 0.328 NA G||| 3097 0.618411 0.7564 0.3919 5008 , , NA 16769 0.7282 NA 0.5895 False NA ,,, NA NA NA 2504 0.5092 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB007618 CCDS1808.1 2p21 2010-06-14 ENSG00000115944 ENSG00000115944 9167 2289 protein-coding gene gene with protein product 605771 NA 9418891 Standard NM_004718 NM_004718 NA Approved EB1, COX7RP, COX7AR, SIG81 uc002rsk.3 O14548 OTTHUMG00000128605 ENST00000378669.1:c.*1189T>C chr2.hg19:g.42577170A>G NA Q9P118 hg19 CCDS1808.1 0.02 10.521081 TGGxGGA COVERED NOVEL COX7A2L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250466.3 0 16.85101 KEEP 0 0 0 56 1780 AA 1 1 0 - 11 60 397 0 0 25.325317 241 60 8740 341 ENST00000378669.1 0.043651 1 COX7A2L 9167 __UNKNOWN__ __UNKNOWN__ 2 42578143 42578143 __UNKNOWN__ 3'UTR SNP A A G rs3088290 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:42578143A>G ENST00000378669.1 - 0 1390 COX7A2L_ENST00000234301.2_3'UTR|COX7A2L_ENST00000482463.1_5'UTR O14548 COX7R_HUMAN cytochrome c oxidase subunit VIIa polypeptide 2 like NA NA cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281) mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746) cytochrome-c oxidase activity (GO:0004129) lung(4) 4 CACAGAGCAAAGCACCATTTC 0.423 NA A||| 661 0.131989 0.1074 0.1182 5008 , , NA 18321 0.1617 NA 0.1382 False NA ,,, NA NA NA 2504 0.138 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB007618 CCDS1808.1 2p21 2010-06-14 ENSG00000115944 ENSG00000115944 9167 2289 protein-coding gene gene with protein product 605771 NA 9418891 Standard NM_004718 NM_004718 NA Approved EB1, COX7RP, COX7AR, SIG81 uc002rsk.3 O14548 OTTHUMG00000128605 ENST00000378669.1:c.*216T>C chr2.hg19:g.42578143A>G NA Q9P118 hg19 CCDS1808.1 0.02 3.632203 CAAxGCA COVERED NOVEL COX7A2L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250466.3 2 13.795336 KEEP 0 0 0 46 1430 AA 1 1 0 - 5 60 177 0 0 10.693491 137 60 4930 220 ENST00000378669.1 0.035211 1 COX7A2L 9167 __UNKNOWN__ __UNKNOWN__ 2 42578149 42578149 __UNKNOWN__ 3'UTR SNP A A G rs8162 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:42578149A>G ENST00000378669.1 - 0 1384 COX7A2L_ENST00000234301.2_3'UTR|COX7A2L_ENST00000482463.1_5'UTR O14548 COX7R_HUMAN cytochrome c oxidase subunit VIIa polypeptide 2 like NA NA cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281) mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746) cytochrome-c oxidase activity (GO:0004129) lung(4) 4 GCAAAGCACCATTTCTTTAAA 0.418 NA A||| 2224 0.444089 0.4402 0.2954 5008 , , NA 18394 0.7262 NA 0.4523 False NA ,,, NA NA NA 2504 0.2556 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB007618 CCDS1808.1 2p21 2010-06-14 ENSG00000115944 ENSG00000115944 9167 2289 protein-coding gene gene with protein product 605771 NA 9418891 Standard NM_004718 NM_004718 NA Approved EB1, COX7RP, COX7AR, SIG81 uc002rsk.3 O14548 OTTHUMG00000128605 ENST00000378669.1:c.*210T>C chr2.hg19:g.42578149A>G NA Q9P118 hg19 CCDS1808.1 0.02 4.03877 ACCxTTT COVERED NOVEL COX7A2L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250466.3 2 14.440618 KEEP 0 0 0 48 1462 AA 1 1 0 - 10 60 351 0 0 24.202567 131 60 4760 226 ENST00000378669.1 0.070922 1 MTA3 57504 __UNKNOWN__ __UNKNOWN__ 2 42981990 42981990 __UNKNOWN__ 3'UTR SNP C C T rs2289355 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:42981990C>T ENST00000405592.1 + 0 3735 MTA3_ENST00000406652.1_3'UTR NM_001282755.1 NP_001269684.1 Q9BTC8 MTA3_HUMAN metastasis associated 1 family, member 3 NA NA intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634) chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270) endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1) 15 GGCTGAGCTCCGCTTGGCAGA 0.512 NA .||| 3357 0.670327 0.5764 0.696 5008 , , NA 21074 0.8254 NA 0.5318 False NA ,,, NA NA NA 2504 0.7618 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB033092 CCDS46267.1, CCDS62900.1 2p22.1 2013-01-25 2004-12-15 ENSG00000057935 ENSG00000057935 57504 GATA zinc finger domain containing 23784 protein-coding gene gene with protein product 609050 metastasis associated gene family, member 3 NA 12705869, 14613024 Standard NM_020744 NM_001282755 NA Approved KIAA1266 uc002rsq.3 Q9BTC8 OTTHUMG00000150452 ENST00000405592.1:c.*1451C>T chr2.hg19:g.42981990C>T NA Q9NSP2|Q9ULF4 hg19 0.02 9.588182 CTCxGCT COVERED NOVEL MTA3-005 PUTATIVE basic protein_coding NA protein_coding OTTHUMT00000318147.1 2 21.366891 KEEP 0 0 0 71 2405 CC 1 1 0 + 15 60 582 0 0 41.135086 220 60 7566 364 ENST00000405592.1 0.06383 1 MTA3 57504 __UNKNOWN__ __UNKNOWN__ 2 42983004 42983004 __UNKNOWN__ 3'UTR SNP T T C rs4953641 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:42983004T>C ENST00000405592.1 + 0 4749 MTA3_ENST00000406652.1_3'UTR NM_001282755.1 NP_001269684.1 Q9BTC8 MTA3_HUMAN metastasis associated 1 family, member 3 NA NA intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634) chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270) endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1) 15 CTCTGCAGGCTATCTCCCCCT 0.617 NA .||| 3853 0.769369 0.913 0.7262 5008 , , NA 17221 0.8284 NA 0.5447 False NA ,,, NA NA NA 2504 0.7761 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB033092 CCDS46267.1, CCDS62900.1 2p22.1 2013-01-25 2004-12-15 ENSG00000057935 ENSG00000057935 57504 GATA zinc finger domain containing 23784 protein-coding gene gene with protein product 609050 metastasis associated gene family, member 3 NA 12705869, 14613024 Standard NM_020744 NM_001282755 NA Approved KIAA1266 uc002rsq.3 Q9BTC8 OTTHUMG00000150452 ENST00000405592.1:c.*2465T>C chr2.hg19:g.42983004T>C NA Q9NSP2|Q9ULF4 hg19 0.02 8.704666 GGCxATC COVERED NOVEL MTA3-005 PUTATIVE basic protein_coding NA protein_coding OTTHUMT00000318147.1 2 15.946743 KEEP 0 0 0 53 1616 TT 1 1 0 + 8 60 292 0 0 18.068228 214 60 7655 327 ENST00000405592.1 0.036036 1 OXER1 165140 __UNKNOWN__ __UNKNOWN__ 2 42989744 42989744 __UNKNOWN__ 3'UTR SNP G G C rs2278584 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:42989744G>C ENST00000378661.2 - 0 1657 NM_148962.4 NP_683765.1 Q8TDS5 OXER1_HUMAN oxoeicosanoid (OXE) receptor 1 NA NA G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cAMP biosynthetic process (GO:0030817) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) 5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050648)|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050647)|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050646)|G-protein coupled receptor activity (GO:0004930) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1) 10 AGTGATTGGCGTCTGTCCCCT 0.542 NA .||| 3900 0.778754 0.9569 0.7536 5008 , , NA 18869 0.8175 NA 0.5338 False NA ,,, NA NA NA 2504 0.7679 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB083055 CCDS1810.1 2p22.1 2012-08-10 ENSG00000162881 ENSG00000162881 165140 GPCR / Class A : Leukotriene receptors 24884 protein-coding gene gene with protein product 5-oxo-ETE acid G-protein-coupled receptor 1 NA 12065583, 15001665 Standard NM_148962 NM_148962 NA Approved GPCR, TG1019, GPR170 uc002rss.3 Q8TDS5 OTTHUMG00000128643 ENST00000378661.2:c.*304C>G chr2.hg19:g.42989744G>C NA Q86WP7|Q8NGW4 hg19 CCDS1810.1 0.02 14.343911 GGCxTCT COVERED NOVEL OXER1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250514.1 2 30.095531 KEEP 0 0 0 100 3412 GG 1 1 0 - 17 60 625 0 0 41.31656 323 60 11215 557 ENST00000378661.2 0.05 1 OXER1 165140 __UNKNOWN__ __UNKNOWN__ 2 42989994 42989994 __UNKNOWN__ 3'UTR SNP G G T rs2278585 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:42989994G>T ENST00000378661.2 - 0 1407 NM_148962.4 NP_683765.1 Q8TDS5 OXER1_HUMAN oxoeicosanoid (OXE) receptor 1 NA NA G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cAMP biosynthetic process (GO:0030817) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) 5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050648)|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050647)|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050646)|G-protein coupled receptor activity (GO:0004930) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1) 10 TGTCCCTCCAGGCCAGAGCGC 0.672 NA .||| 1674 0.334265 0.2035 0.2363 5008 , , NA 18836 0.5942 NA 0.2406 False NA ,,, NA NA NA 2504 0.409 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB083055 CCDS1810.1 2p22.1 2012-08-10 ENSG00000162881 ENSG00000162881 165140 GPCR / Class A : Leukotriene receptors 24884 protein-coding gene gene with protein product 5-oxo-ETE acid G-protein-coupled receptor 1 NA 12065583, 15001665 Standard NM_148962 NM_148962 NA Approved GPCR, TG1019, GPR170 uc002rss.3 Q8TDS5 OTTHUMG00000128643 ENST00000378661.2:c.*54C>A chr2.hg19:g.42989994G>T NA Q86WP7|Q8NGW4 hg19 CCDS1810.1 0.02 11.223132 CCAxGCC COVERED NOVEL OXER1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250514.1 2 18.359395 KEEP 0 0 0 61 2166 GG 1 1 0 - 18 60 643 0 0 44.402194 245 60 9139 359 ENST00000378661.2 0.068441 1 OXER1 165140 __UNKNOWN__ __UNKNOWN__ 2 42990010 42990010 __UNKNOWN__ 3'UTR SNP C C A rs12617777 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:42990010C>A ENST00000378661.2 - 0 1391 NM_148962.4 NP_683765.1 Q8TDS5 OXER1_HUMAN oxoeicosanoid (OXE) receptor 1 NA NA G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cAMP biosynthetic process (GO:0030817) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) 5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050648)|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050647)|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050646)|G-protein coupled receptor activity (GO:0004930) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1) 10 AGCGCGGCAGCCCTTACCCCC 0.652 NA .||| 2008 0.400958 0.4455 0.2608 5008 , , NA 19096 0.5893 NA 0.2416 False NA ,,, NA NA NA 2504 0.41 NA NA NA NA 0 C 1865,2539 508.1+/-366.9 383,1099,720 38 37 37 -3.3 0 2 dbSNP_120 37 1814,6786 306.2+/-307.8 197,1420,2683 no utr-3 OXER1 NM_148962.4 580,2519,3403 AA,AC,CC 21.093,42.3479,28.2913 42990010 3679,9325 2202 4300 6502 SO:0001624 3_prime_UTR_variant AB083055 CCDS1810.1 2p22.1 2012-08-10 ENSG00000162881 ENSG00000162881 165140 GPCR / Class A : Leukotriene receptors 24884 protein-coding gene gene with protein product 5-oxo-ETE acid G-protein-coupled receptor 1 NA 12065583, 15001665 Standard NM_148962 NM_148962 NA Approved GPCR, TG1019, GPR170 uc002rss.3 Q8TDS5 OTTHUMG00000128643 ENST00000378661.2:c.*38G>T chr2.hg19:g.42990010C>A NA Q86WP7|Q8NGW4 hg19 CCDS1810.1 0.02 10.658816 CAGxCCT COVERED NOVEL OXER1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250514.1 2 20.765521 KEEP 0 0 0 69 2439 CC 1 1 0 - 20 60 700 0 0 48.176932 263 60 9514 398 ENST00000378661.2 0.070671 1 OXER1 165140 __UNKNOWN__ __UNKNOWN__ 2 42990101 42990101 __UNKNOWN__ Missense_Mutation SNP G G C rs2278586 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:42990101G>C ENST00000378661.2 - 1 1300 c.1219C>G c.(1219-1221)Ctg>Gtg p.L407V NM_148962.4 NP_683765.1 Q8TDS5 OXER1_HUMAN oxoeicosanoid (OXE) receptor 1 407 NA L -> V (in dbSNP:rs2278586). {ECO:0000269|PubMed:12606753}. G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cAMP biosynthetic process (GO:0030817) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) 5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050648)|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050647)|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050646)|G-protein coupled receptor activity (GO:0004930) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1) 10 TGCACTTTCAGCTTCCCTATG 0.687 NA .||| 1677 0.334864 0.2042 0.2363 5008 , , NA 20163 0.5952 NA 0.2406 False NA ,,, NA NA NA 2504 0.41 NA NA NA NA 0 G VAL/LEU 1012,3394 371.5+/-320.0 114,784,1305 61 61 61 1219 2.9 0 2 dbSNP_100 61 1807,6793 322.8+/-315.7 191,1425,2684 yes missense OXER1 NM_148962.4 32 305,2209,3989 CC,CG,GG 21.0116,22.9687,21.6746 possibly-damaging 407/424 42990101 2819,10187 2203 4300 6503 SO:0001583 missense AB083055 CCDS1810.1 2p22.1 2012-08-10 ENSG00000162881 ENSG00000162881 165140 GPCR / Class A : Leukotriene receptors 24884 protein-coding gene gene with protein product 5-oxo-ETE acid G-protein-coupled receptor 1 NA 12065583, 15001665 Standard NM_148962 NM_148962 NA Approved GPCR, TG1019, GPR170 uc002rss.3 Q8TDS5 OTTHUMG00000128643 ENST00000378661.2:c.1219C>G chr2.hg19:g.42990101G>C ENSP00000367930:p.Leu407Val NA Q86WP7|Q8NGW4 hg19 CCDS1810.1 0.02 20.583946 TCAxCTT COVERED 718 0.32875457875457875 99 0.20121951219512196 83 0.2292817679558011 359 0.6276223776223776 177 0.23350923482849603 G 13.36 2.214215 0.39102 0.229687 0.210116 ENSG00000162881 ENST00000378661 T 0.63096 -0.02 3.93 2.94 0.34122 . . . . . T 0.00012 0.0000 N 0.08118 0 0.80722 P 0.0 B 0.17038 0.02 B 0.12837 0.008 T 0.44847 -0.9301 8 0.17369 T 0.5 . 12.0117 0.53291 0.0:0.2206:0.7794:0.0 rs2278586;rs56603157;rs60919568;rs2278586 407 Q8TDS5 OXER1_HUMAN V 407 ENSP00000367930:L407V ENSP00000367930:L407V L - 1 2 OXER1 42843605 0.000000 0.05858 0.012000 0.15200 0.035000 0.12851 -0.036000 0.12185 0.936000 0.37367 0.655000 0.94253 CTG NOVEL OXER1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250514.1 3 43.29578 KEEP 0 0 0 144 5174 GG 1 1 0 - 24 60 860 0 0 56.138385 466 60 17650 800 ENST00000378661.2 0.04898 1 OXER1 165140 __UNKNOWN__ __UNKNOWN__ 2 42990336 42990336 __UNKNOWN__ Silent SNP T T G rs1992286 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:42990336T>G ENST00000378661.2 - 1 1065 c.984A>C c.(982-984)cgA>cgC p.R328R NM_148962.4 NP_683765.1 Q8TDS5 OXER1_HUMAN oxoeicosanoid (OXE) receptor 1 328 NA G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cAMP biosynthetic process (GO:0030817) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) 5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050648)|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050647)|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050646)|G-protein coupled receptor activity (GO:0004930) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1) 10 GGTCCAGGGATCGGCAGGCGG 0.592 NA .||| 3907 0.780152 0.9569 0.7536 5008 , , NA 16668 0.8165 NA 0.5408 False NA ,,, NA NA NA 2504 0.7689 NA NA NA NA 0 G 3884,522 231.4+/-245.2 1712,460,31 41 44 43 984 -2.6 0 2 dbSNP_92 43 4706,3894 534.2+/-382.6 1271,2164,865 no coding-synonymous OXER1 NM_148962.4 2983,2624,896 GG,GT,TT 45.2791,11.8475,33.9536 328/424 42990336 8590,4416 2203 4300 6503 SO:0001819 synonymous_variant AB083055 CCDS1810.1 2p22.1 2012-08-10 ENSG00000162881 ENSG00000162881 165140 GPCR / Class A : Leukotriene receptors 24884 protein-coding gene gene with protein product 5-oxo-ETE acid G-protein-coupled receptor 1 NA 12065583, 15001665 Standard NM_148962 NM_148962 NA Approved GPCR, TG1019, GPR170 uc002rss.3 Q8TDS5 OTTHUMG00000128643 ENST00000378661.2:c.984A>C chr2.hg19:g.42990336T>G NA Q86WP7|Q8NGW4 hg19 CCDS1810.1 0.02 12.019578 GGAxCGG COVERED NOVEL OXER1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250514.1 2 16.522804 KEEP 0 0 0 55 1686 TT 1 1 0 - 14 60 542 0 0 38.00533 215 60 7623 352 ENST00000378661.2 0.061135 1 OXER1 165140 __UNKNOWN__ __UNKNOWN__ 2 42990522 42990522 __UNKNOWN__ Silent SNP C C T rs12712859 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:42990522C>T ENST00000378661.2 - 1 879 c.798G>A c.(796-798)gcG>gcA p.A266A NM_148962.4 NP_683765.1 Q8TDS5 OXER1_HUMAN oxoeicosanoid (OXE) receptor 1 266 NA G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cAMP biosynthetic process (GO:0030817) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) 5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050648)|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050647)|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050646)|G-protein coupled receptor activity (GO:0004930) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1) 10 AGAGGATGAGCGCCAGTGGCA 0.667 NA .||| 1714 0.342252 0.236 0.2363 5008 , , NA 18313 0.5913 NA 0.2396 False NA ,,, NA NA NA 2504 0.41 NA NA NA NA 0 C 1112,3292 143,826,1233 15 17 16 798 -5.8 0 2 dbSNP_121 16 1794,6804 197,1400,2702 no coding-synonymous OXER1 NM_148962.4 340,2226,3935 TT,TC,CC 20.8653,25.2498,22.3504 266/424 42990522 2906,10096 2202 4299 6501 SO:0001819 synonymous_variant AB083055 CCDS1810.1 2p22.1 2012-08-10 ENSG00000162881 ENSG00000162881 165140 GPCR / Class A : Leukotriene receptors 24884 protein-coding gene gene with protein product 5-oxo-ETE acid G-protein-coupled receptor 1 NA 12065583, 15001665 Standard NM_148962 NM_148962 NA Approved GPCR, TG1019, GPR170 uc002rss.3 Q8TDS5 OTTHUMG00000128643 ENST00000378661.2:c.798G>A chr2.hg19:g.42990522C>T NA Q86WP7|Q8NGW4 hg19 CCDS1810.1 0.02 6.38783 GAGxGCC COVERED NOVEL OXER1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250514.1 1 14.17881 KEEP 0 1 31 58 1958 CC 1 1 0 - 9 60 328 0 0 21.347157 182 60 6221 310 ENST00000378661.2 0.04712 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 42991468 42991468 __UNKNOWN__ IGR SNP G G C rs10194180 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:42991468G>C NA NA OXER1 (67 upstream) : HAAO (2760 downstream) NA NA NA AGCCCAGCCTGGGGGTTGTGC 0.622 NA .||| 1717 0.342851 0.2201 0.2363 5008 , , NA 19091 0.6042 NA 0.2396 False NA ,,, NA NA NA 2504 0.4213 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.42991468G>C NA hg19 0.02 3.355661 CCTxGGG COVERED NOVEL 0 2 3.611573 KEEP 0 0 0 12 413 GG 0.993634 0.993633 0 11 60 356 0 0 24.566801 117 60 4222 146 0.085937 1 ZFP36L2 678 __UNKNOWN__ __UNKNOWN__ 2 43452268 43452268 __UNKNOWN__ Silent SNP C C A rs560875385 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:43452268C>A ENST00000282388.3 - 2 968 c.675G>T c.(673-675)ccG>ccT p.P225P THADA_ENST00000330266.7_Intron NM_006887.4 NP_008818.3 P47974 TISD_HUMAN ZFP36 ring finger protein-like 2 225 NA cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077) cytoplasm (GO:0005737)|nucleus (GO:0005634) AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 15 Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824) cgccccccgacggcgcgggcc 0.701 NA C||| 3 0.000599042 0.0 0.0 5008 , , NA 9523 0.003 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 7 9 8 NA NA 2 NA 43452268 2080 4139 6219 SO:0001819 synonymous_variant X78992 CCDS1811.1 2p22.3-p21 2012-11-27 2012-11-27 2001-11-23 ENSG00000152518 ENSG00000152518 678 RING-type (C3HC4) zinc fingers 1108 protein-coding gene gene with protein product 612053 zinc finger protein 36, C3H type-like 1, zinc finger protein 36, C3H type-like 2 BRF2 NA 7835719, 8545129, 14981510, 17172869 Standard NM_006887 NM_006887 NA Approved ERF2, RNF162C, TIS11D uc002rsv.4 P47974 OTTHUMG00000128642 ENST00000282388.3:c.675G>T chr2.hg19:g.43452268C>A NA Q53TB4|Q9BSJ3 hg19 CCDS1811.1 0.02 9.56214 CGAxGGC COVERED NOVEL ZFP36L2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250513.2 3 69.785902 KEEP 0 0 0 232 7546 CC 1 1 0 - 14 60 458 0 0 28.331657 268 60 9040 662 ENST00000282388.3 0.049645 1 PLEKHH2 130271 __UNKNOWN__ __UNKNOWN__ 2 43989398 43989398 __UNKNOWN__ Intron SNP T T C rs17031411 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:43989398T>C ENST00000282406.4 + 28 4181 NM_172069.3 NP_742066.2 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 NA NA negative regulation of actin filament depolymerization (GO:0030835) cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886) actin binding (GO:0003779) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) ATTCCTGTAATTTTGCTTAGT 0.323 NA T||| 41 0.0081869 0.0 0.0 5008 , , NA 19181 0.0407 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 54 54 54 NA NA 2 NA 43989398 2203 4300 6503 SO:0001627 intron_variant AB095948 CCDS1812.1 2p22 2013-01-10 ENSG00000152527 ENSG00000152527 130271 Pleckstrin homology (PH) domain containing 30506 protein-coding gene gene with protein product 612723 NA Standard NM_172069 NM_172069 NA Approved KIAA2028, PLEKHH1L uc010yny.2 Q8IVE3 OTTHUMG00000128657 ENST00000282406.4:c.4072-45T>C chr2.hg19:g.43989398T>C NA Q5JPJ6|Q6P4Q1|Q8N3Q3 hg19 CCDS1812.1 0.02 4.563201 TAAxTTT COVERED NOVEL PLEKHH2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250537.1 0 5.716381 KEEP 0 0 0 19 570 TT 0.99986 0.999841 0 + 5 60 190 0 0 12.679537 99 60 3604 130 ENST00000282406.4 0.048077 0.999981 ABCG8 64241 __UNKNOWN__ __UNKNOWN__ 2 44099433 44099433 __UNKNOWN__ Missense_Mutation SNP C C A rs4148217 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:44099433C>A ENST00000272286.2 + 8 1289 c.1199C>A c.(1198-1200)aCg>aAg p.T400K NM_022437.2 NP_071882.1 Q9H221 ABCG8_HUMAN ATP-binding cassette, sub-family G (WHITE), member 8 400 NA T -> K (in dbSNP:rs4148217). {ECO:0000269|PubMed:11452359, ECO:0000269|PubMed:11668628, ECO:0000269|PubMed:12111378}. ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085) apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248) NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 45 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) Ezetimibe(DB00973) CAGCAGTTTACGACGCTGATC 0.502 NA C||| 1080 0.215655 0.2912 0.3228 5008 , , NA 18266 0.1141 NA 0.2008 False NA ,,, NA NA NA 2504 0.1575 NA NA NA NA 0 GRCh37 CM042913 ABCG8 M rs4148217 C LYS/THR 1202,3204 413.7+/-336.6 178,846,1179 46 44 45 1199 3.9 0 2 dbSNP_110 45 1647,6953 300.6+/-305.0 162,1323,2815 yes missense ABCG8 NM_022437.2 78 340,2169,3994 AA,AC,CC 19.1512,27.281,21.9053 benign 400/674 44099433 2849,10157 2203 4300 6503 SO:0001583 missense AF320294 CCDS1815.1 2p21 2012-03-14 2008-07-31 ENSG00000143921 ENSG00000143921 64241 ATP binding cassette transporters / subfamily G 13887 protein-coding gene gene with protein product gallbladder disease 4, sterolin 2 605460 ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2) NA 11099417, 17626266 Standard NM_022437 NM_022437 NA Approved GBD4 uc002rtq.3 Q9H221 OTTHUMG00000128756 ENST00000272286.2:c.1199C>A chr2.hg19:g.44099433C>A ENSP00000272286:p.Thr400Lys NA Q53QN8 hg19 CCDS1815.1 0.02 17.28638 TTAxGAC COVERED 476 0.21794871794871795 154 0.3130081300813008 117 0.32320441988950277 60 0.1048951048951049 145 0.19129287598944592 C 9.876 1.200333 0.22121 0.27281 0.191512 ENSG00000143921 ENST00000272286 T 0.69806 -0.43 4.81 3.93 0.45458 ABC-2 type transporter (1); 0.400469 0.29451 N 0.012101 T 0.00012 0.0000 N 0.17474 0.49 0.58432 P 1.999999999946489E-6 B;B 0.21688 0.009;0.059 B;B 0.23419 0.016;0.046 T 0.19647 -1.0299 9 0.27785 T 0.31 . 9.9542 0.41657 0.0:0.9036:0.0:0.0964 rs4148217;rs59591548;rs4148217 399;400 Q9H221-2;Q9H221 .;ABCG8_HUMAN K 400 ENSP00000272286:T400K ENSP00000272286:T400K T + 2 0 ABCG8 43952937 0.001000 0.12720 0.011000 0.14972 0.089000 0.18198 1.368000 0.34216 1.015000 0.39444 0.591000 0.81541 ACG NOVEL ABCG8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250671.1 1 16.250591 KEEP 0 0 0 54 1815 CC 1 1 0 + 17 60 600 0 0 37.167153 407 60 13472 554 ENST00000272286.2 0.040094 1 LRPPRC 10128 __UNKNOWN__ __UNKNOWN__ 2 44123759 44123759 __UNKNOWN__ Intron SNP G G A rs3795859 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:44123759G>A ENST00000260665.7 - 35 3958 NM_133259.3 NP_573566.2 P42704 LPPRC_HUMAN leucine-rich pentatricopeptide repeat containing NA NA mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529) beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697) breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2) 41 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) TTGTAAGCAGGTAAAGCACAG 0.363 NA G||| 1027 0.205072 0.0061 0.1873 5008 , , NA 20031 0.4573 NA 0.1133 False NA ,,, NA NA NA 2504 0.3211 NA NA NA NA 0 G 120,4286 90.2+/-128.9 2,116,2085 102 96 98 3.8 0 2 dbSNP_107 98 950,7650 207.6+/-249.3 35,880,3385 no intron LRPPRC NM_133259.3 37,996,5470 AA,AG,GG 11.0465,2.7236,8.227 44123759 1070,11936 2203 4300 6503 SO:0001627 intron_variant M92439 CCDS33189.1 2p21 2012-02-24 2012-02-24 ENSG00000138095 ENSG00000138095 10128 15714 protein-coding gene gene with protein product 607544 Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency) LSFC NA 8012652, 8619474, 22045337 Standard NM_133259 NM_133259 NA Approved GP130, LRP130 uc002rtr.2 P42704 OTTHUMG00000152782 ENST00000260665.7:c.3900+13C>T chr2.hg19:g.44123759G>A NA A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84 hg19 CCDS33189.1 0.02 18.424502 CAGxTAA COVERED NOVEL LRPPRC-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000327823.1 2 22.573079 KEEP 0 0 0 75 2644 GG 1 1 0 - 25 70 934 0 0 63.637411 416 70 15202 642 ENST00000260665.7 0.056689 1 LRPPRC 10128 __UNKNOWN__ __UNKNOWN__ 2 44201376 44201376 __UNKNOWN__ Silent SNP T T C rs4953042 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:44201376T>C ENST00000409946.1 - 9 1098 c.1068A>G c.(1066-1068)caA>caG p.Q356Q LRPPRC_ENST00000260665.7_Silent_p.Q356Q|LRPPRC_ENST00000409659.1_Silent_p.Q356Q P42704 LPPRC_HUMAN leucine-rich pentatricopeptide repeat containing 356 NA mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529) beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697) breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2) 41 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) CTAGTAAAATTTGCAACGCTA 0.373 NA T||| 1281 0.255791 0.025 0.2666 5008 , , NA 19268 0.5198 NA 0.1521 False NA ,,, NA NA NA 2504 0.3947 NA NA NA NA 0 T 212,4194 129.4+/-166.1 4,204,1995 76 76 76 1068 -3.3 0 2 dbSNP_111 76 1286,7314 254.0+/-279.5 89,1108,3103 no coding-synonymous LRPPRC NM_133259.3 93,1312,5098 CC,CT,TT 14.9535,4.8116,11.5178 356/1395 44201376 1498,11508 2203 4300 6503 SO:0001819 synonymous_variant M92439 CCDS33189.1 2p21 2012-02-24 2012-02-24 ENSG00000138095 ENSG00000138095 10128 15714 protein-coding gene gene with protein product 607544 Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency) LSFC NA 8012652, 8619474, 22045337 Standard NM_133259 NM_133259 NA Approved GP130, LRP130 uc002rtr.2 P42704 OTTHUMG00000152782 ENST00000409946.1:c.1068A>G chr2.hg19:g.44201376T>C NA A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84 hg19 0.02 27.674613 AATxTGC COVERED NOVEL LRPPRC-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000327824.1 3 34.304349 KEEP 0 0 0 114 3638 TT 1 1 0 - 34 60 1342 0 0 94.836598 523 60 19171 834 ENST00000409946.1 0.061041 1 PPM1B 5495 __UNKNOWN__ __UNKNOWN__ 2 44428338 44428338 __UNKNOWN__ 5'UTR SNP C C T rs375875874 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:44428338C>T ENST00000378551.2 + 0 412 PPM1B_ENST00000378540.4_3'UTR|PPM1B_ENST00000282412.4_5'UTR|PPM1B_ENST00000409432.3_5'UTR|PPM1B_ENST00000409895.4_5'UTR|PPM1B_ENST00000345249.4_Intron NM_177968.2 NP_808907.1 O75688 PPM1B_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1B NA NA cytokine-mediated signaling pathway (GO:0019221)|N-terminal protein myristoylation (GO:0006499)|negative regulation of defense response to virus (GO:0050687)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470) cytosol (GO:0005829)|membrane (GO:0016020) magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722) kidney(4)|large_intestine(3)|lung(7)|skin(2) 16 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) TATTGCTAAACATGGGTGCAT 0.363 NA C||| 2 0.000399361 0.0 0.0 5008 , , NA 21663 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 55 56 55 NA NA 2 NA 44428338 2203 4299 6502 SO:0001623 5_prime_UTR_variant AJ005801 CCDS1816.1, CCDS1817.1, CCDS1818.1, CCDS46271.1 2p22.1 2012-04-17 2010-03-05 ENSG00000138032 ENSG00000138032 5495 3.1.3.16 Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent 9276 protein-coding gene gene with protein product protein phosphatase 2C, beta isoform 603770 protein phosphatase 1B (formerly 2C), magnesium-dependent, beta isoform NA 9684878 Standard NM_002706 NM_002706 NA Approved PPC2BETAX, PP2CB, PP2CBETA uc002rtt.3 O75688 OTTHUMG00000128757 ENST00000378551.2:c.-1C>T chr2.hg19:g.44428338C>T NA Q461Q2|Q4J6C1|Q4J6C2|Q658R4|Q96ER6|Q9HAY8 hg19 CCDS1816.1 0.02 16.620755 AAAxATG COVERED NOVEL PPM1B-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000250673.2 4 17.591392 KEEP 0 1 21 66 2368 CC 1 1 0 + 16 60 579 0 0 36.030804 404 60 15152 581 ENST00000378551.2 0.038095 1 SIX2 10736 __UNKNOWN__ __UNKNOWN__ 2 45235666 45235666 __UNKNOWN__ Intron SNP C C G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:45235666C>G ENST00000303077.6 - 1 880 NM_016932.4 NP_058628.3 Q9NPC8 SIX2_HUMAN SIX homeobox 2 NA NA anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|kidney development (GO:0001822)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|mesenchymal stem cell maintenance involved in nephron morphogenesis (GO:0072038)|mesenchymal stem cell proliferation (GO:0097168)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate specification (GO:0007501)|middle ear morphogenesis (GO:0042474)|nephron development (GO:0072006)|nephron morphogenesis (GO:0072028)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus (GO:0006606)|regulation of branching involved in ureteric bud morphogenesis (GO:0090189) nucleus (GO:0005634) sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 22 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) GAGCTGGCGCCGAAGAAGGTC 0.697 NA NA NA NA NA NA NA NA NA NA NA 0 24 28 27 NA NA 2 NA 45235666 2194 4294 6488 SO:0001627 intron_variant AF136939 CCDS1822.1 2p21 2011-06-20 2007-07-13 ENSG00000170577 ENSG00000170577 10736 Homeoboxes / SINE class 10888 protein-coding gene gene with protein product 604994 sine oculis homeobox (Drosophila) homolog 2, sine oculis homeobox homolog 2 (Drosophila) NA Standard NM_016932 NA Approved uc002ruo.3 Q9NPC8 OTTHUMG00000152421 ENST00000303077.6:c.560+23G>C chr2.hg19:g.45235666C>G NA Q9BXH7 hg19 CCDS1822.1 0.02 3.989827 CGCxGAA COVERED NOVEL SIX2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000326188.2 0 8.727695 KEEP 0 0 0 29 976 CC 0.999997 0.999996 0 - 6 60 196 0 0 12.046581 118 60 4134 162 ENST00000303077.6 0.048387 0.999999 PRKCE 5581 __UNKNOWN__ __UNKNOWN__ 2 46211645 46211645 __UNKNOWN__ Intron SNP A A C rs60465117 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:46211645A>C ENST00000306156.3 + 6 1020 NM_005400.2 NP_005391.1 Q02156 KPCE_HUMAN protein kinase C, epsilon NA NA activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to ethanol (GO:0071361)|cellular response to hypoxia (GO:0071456)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|locomotory exploration behavior (GO:0035641)|macrophage activation involved in immune response (GO:0002281)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cellular glucuronidation (GO:2001031)|positive regulation of cytokinesis (GO:0032467)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of insulin secretion (GO:0032024)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|release of sequestered calcium ion into cytosol (GO:0051209)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|TRAM-dependent toll-like receptor 4 signaling pathway (GO:0035669) cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886) actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|ethanol binding (GO:0035276)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|receptor activator activity (GO:0030546)|signal transducer activity (GO:0004871) MBOAT2/PRKCE(2) breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2) 34 all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209) LUSC - Lung squamous cell carcinoma(58;0.171) Tamoxifen(DB00675) TCTTCTGGGGAACTGAGGAGC 0.532 NA C||| 272 0.0543131 0.0658 0.0173 5008 , , NA 19058 0.0853 NA 0.005 False NA ,,, NA NA NA 2504 0.0838 NA NA NA NA 0 C 163,3701 5,153,1774 89 96 94 -4.5 0 2 dbSNP_129 94 20,8034 0,20,4007 no intron PRKCE NM_005400.2 5,173,5781 CC,CA,AA 0.2483,4.2184,1.5355 46211645 183,11735 1932 4027 5959 SO:0001627 intron_variant CCDS1824.1 2p21 2009-07-10 ENSG00000171132 ENSG00000171132 5581 2.7.11.1 9401 protein-coding gene gene with protein product 176975 NA 1382605, 7877991 Standard NM_005400 NA Approved uc002rut.3 Q02156 OTTHUMG00000128817 ENST00000306156.3:c.694-45A>C chr2.hg19:g.46211645A>C NA B0LPH7|Q32MQ3|Q53SL4|Q53SM5|Q9UE81 hg19 CCDS1824.1 0.02 8.940078 GGGxACT COVERED NOVEL PRKCE-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250751.2 0 12.303191 KEEP 0 0 0 41 1313 AA 1 1 0 + 11 60 399 0 0 26.514411 196 60 6660 278 ENST00000306156.3 0.05314 1 PRKCE 5581 __UNKNOWN__ __UNKNOWN__ 2 46237446 46237446 __UNKNOWN__ Intron SNP C C A rs1987070 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:46237446C>A ENST00000394874.1 + 5 541 PRKCE_ENST00000306156.3_Intron Q02156 KPCE_HUMAN protein kinase C, epsilon NA NA activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to ethanol (GO:0071361)|cellular response to hypoxia (GO:0071456)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|locomotory exploration behavior (GO:0035641)|macrophage activation involved in immune response (GO:0002281)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cellular glucuronidation (GO:2001031)|positive regulation of cytokinesis (GO:0032467)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of insulin secretion (GO:0032024)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|release of sequestered calcium ion into cytosol (GO:0051209)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|TRAM-dependent toll-like receptor 4 signaling pathway (GO:0035669) cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886) actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|ethanol binding (GO:0035276)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|receptor activator activity (GO:0030546)|signal transducer activity (GO:0004871) MBOAT2/PRKCE(2) breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2) 34 all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209) LUSC - Lung squamous cell carcinoma(58;0.171) Tamoxifen(DB00675) TTATTCCATACATGCATAGAT 0.348 NA C||| 988 0.197284 0.152 0.1412 5008 , , NA 21586 0.2192 NA 0.2734 False NA ,,, NA NA NA 2504 0.1973 NA NA NA NA 0 C 516,2972 34,448,1262 129 115 120 -2.7 0 2 dbSNP_92 120 1989,5449 288,1413,2018 no intron PRKCE NM_005400.2 322,1861,3280 AA,AC,CC 26.7411,14.7936,22.927 46237446 2505,8421 1744 3719 5463 SO:0001627 intron_variant CCDS1824.1 2p21 2009-07-10 ENSG00000171132 ENSG00000171132 5581 2.7.11.1 9401 protein-coding gene gene with protein product 176975 NA 1382605, 7877991 Standard NM_005400 NA Approved uc002rut.3 Q02156 OTTHUMG00000128817 ENST00000394874.1:c.433-37C>A chr2.hg19:g.46237446C>A NA B0LPH7|Q32MQ3|Q53SL4|Q53SM5|Q9UE81 hg19 0.02 10.968162 ATAxATG COVERED NOVEL PRKCE-008 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000258149.1 2 4.955111 KEEP 0 4 130 62 2164 CC 1 1 0 + 8 60 294 0 1 17.724918 251 60 9405 391 ENST00000394874.1 0.030888 1 PRKCE 5581 __UNKNOWN__ __UNKNOWN__ 2 46412422 46412422 __UNKNOWN__ 3'UTR SNP C C G rs2278773 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:46412422C>G ENST00000306156.3 + 0 2943 NM_005400.2 NP_005391.1 Q02156 KPCE_HUMAN protein kinase C, epsilon NA NA activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to ethanol (GO:0071361)|cellular response to hypoxia (GO:0071456)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|locomotory exploration behavior (GO:0035641)|macrophage activation involved in immune response (GO:0002281)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cellular glucuronidation (GO:2001031)|positive regulation of cytokinesis (GO:0032467)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of insulin secretion (GO:0032024)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|release of sequestered calcium ion into cytosol (GO:0051209)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|TRAM-dependent toll-like receptor 4 signaling pathway (GO:0035669) cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886) actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|ethanol binding (GO:0035276)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|receptor activator activity (GO:0030546)|signal transducer activity (GO:0004871) MBOAT2/PRKCE(2) breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2) 34 all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209) LUSC - Lung squamous cell carcinoma(58;0.171) Tamoxifen(DB00675) GATCCTGATCCCTCTTGCTTC 0.527 NA C||| 101 0.0201677 0.0008 0.0202 5008 , , NA 21111 0.0585 NA 0.0229 False NA ,,, NA NA NA 2504 0.0041 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS1824.1 2p21 2009-07-10 ENSG00000171132 ENSG00000171132 5581 2.7.11.1 9401 protein-coding gene gene with protein product 176975 NA 1382605, 7877991 Standard NM_005400 NA Approved uc002rut.3 Q02156 OTTHUMG00000128817 ENST00000306156.3:c.*402C>G chr2.hg19:g.46412422C>G NA B0LPH7|Q32MQ3|Q53SL4|Q53SM5|Q9UE81 hg19 CCDS1824.1 0.02 8.187354 ATCxCTC COVERED NOVEL PRKCE-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250751.2 2 23.175926 KEEP 0 0 0 77 2757 CC 1 1 0 + 10 60 351 0 0 22.135067 214 60 7796 395 ENST00000306156.3 0.044643 1 PRKCE 5581 __UNKNOWN__ __UNKNOWN__ 2 46413161 46413161 __UNKNOWN__ 3'UTR SNP C C T rs41281467 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:46413161C>T ENST00000306156.3 + 0 3682 NM_005400.2 NP_005391.1 Q02156 KPCE_HUMAN protein kinase C, epsilon NA NA activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to ethanol (GO:0071361)|cellular response to hypoxia (GO:0071456)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|locomotory exploration behavior (GO:0035641)|macrophage activation involved in immune response (GO:0002281)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cellular glucuronidation (GO:2001031)|positive regulation of cytokinesis (GO:0032467)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of insulin secretion (GO:0032024)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|release of sequestered calcium ion into cytosol (GO:0051209)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|TRAM-dependent toll-like receptor 4 signaling pathway (GO:0035669) cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886) actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|ethanol binding (GO:0035276)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|receptor activator activity (GO:0030546)|signal transducer activity (GO:0004871) MBOAT2/PRKCE(2) breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2) 34 all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209) LUSC - Lung squamous cell carcinoma(58;0.171) Tamoxifen(DB00675) ATGGGTTATACAAAGGGTATC 0.353 NA C||| 108 0.0215655 0.0008 0.0187 5008 , , NA 22556 0.0585 NA 0.0308 False NA ,,, NA NA NA 2504 0.0041 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS1824.1 2p21 2009-07-10 ENSG00000171132 ENSG00000171132 5581 2.7.11.1 9401 protein-coding gene gene with protein product 176975 NA 1382605, 7877991 Standard NM_005400 NA Approved uc002rut.3 Q02156 OTTHUMG00000128817 ENST00000306156.3:c.*1141C>T chr2.hg19:g.46413161C>T NA B0LPH7|Q32MQ3|Q53SL4|Q53SM5|Q9UE81 hg19 CCDS1824.1 0.02 8.059073 ATAxAAA COVERED NOVEL PRKCE-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250751.2 4 24.680594 KEEP 0 0 0 82 2907 CC 1 1 0 + 8 60 296 0 0 18.046951 242 60 9107 386 ENST00000306156.3 0.032 1 SOCS5 9655 __UNKNOWN__ __UNKNOWN__ 2 46987139 46987139 __UNKNOWN__ Silent SNP G G A rs17771838 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:46987139G>A ENST00000306503.5 + 2 1642 c.1470G>A c.(1468-1470)gcG>gcA p.A490A SOCS5_ENST00000394861.2_Silent_p.A490A NM_014011.4 NP_054730.1 O75159 SOCS5_HUMAN suppressor of cytokine signaling 5 490 SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}. NA cell growth (GO:0016049)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|JAK-STAT cascade (GO:0007259)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of signal transduction (GO:0009968)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008) receptor tyrosine kinase binding (GO:0030971) breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2) 22 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) LUSC - Lung squamous cell carcinoma(58;0.114) TCTGTCGCGCGGTAATCTGCA 0.373 NA G||| 328 0.0654952 0.031 0.085 5008 , , NA 22274 0.0357 NA 0.0885 False NA ,,, NA NA NA 2504 0.1053 NA NA NA NA 0 G , 171,4235 112.9+/-151.0 3,165,2035 85 81 82 1470,1470 -4.1 0.9 2 dbSNP_123 82 811,7789 188.7+/-235.6 35,741,3524 no coding-synonymous,coding-synonymous SOCS5 NM_014011.4,NM_144949.2 , 38,906,5559 AA,AG,GG 9.4302,3.8811,7.5504 , 490/537,490/537 46987139 982,12024 2203 4300 6503 SO:0001819 synonymous_variant AB014571 CCDS1830.1 2p21 2013-02-14 ENSG00000171150 ENSG00000171150 9655 Suppressors of cytokine signaling, SH2 domain containing 16852 protein-coding gene gene with protein product 607094 NA 9734811, 11230166 Standard NM_014011 NA Approved KIAA0671, SOCS-5, CIS6, CISH6, Cish5 uc002rvf.3 O75159 OTTHUMG00000128852 ENST00000306503.5:c.1470G>A chr2.hg19:g.46987139G>A NA Q53SD4|Q8IYZ4 hg19 CCDS1830.1 0.02 8.958965 CGCxGTA COVERED NOVEL SOCS5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250791.2 3 23.472534 KEEP 0 0 0 78 2599 GG 1 1 0 + 7 60 271 0 0 16.58035 243 60 8310 398 ENST00000306503.5 0.028 1 MCFD2 90411 __UNKNOWN__ __UNKNOWN__ 2 47135246 47135246 __UNKNOWN__ Intron SNP A A G rs2289927 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:47135246A>G ENST00000409800.1 - 2 74 MCFD2_ENST00000409973.1_Intron|MCFD2_ENST00000409147.1_Intron|MCFD2_ENST00000493804.1_Intron|MCFD2_ENST00000444761.2_Intron|MCFD2_ENST00000409105.1_Intron|MCFD2_ENST00000319466.4_Intron|AC016722.4_ENST00000429761.1_RNA|MCFD2_ENST00000409913.1_Intron|MCFD2_ENST00000409207.1_Intron|MCFD2_ENST00000409218.1_Intron NM_001171510.2 NP_001164981.1 Q8NI22 MCFD2_HUMAN multiple coagulation factor deficiency 2 NA NA cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192) endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794) calcium ion binding (GO:0005509) central_nervous_system(1)|large_intestine(1)|lung(2) 4 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114) Antihemophilic Factor(DB00025) GACCACACTCAAGGATTACAC 0.418 NA G||| 700 0.139776 0.289 0.1542 5008 , , NA 18505 0.0784 NA 0.0755 False NA ,,, NA NA NA 2504 0.0573 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF475284 CCDS33192.1, CCDS54354.1, CCDS54355.1 2p21 2014-09-17 ENSG00000180398 ENSG00000180398 90411 EF-hand domain containing 18451 protein-coding gene gene with protein product 607788 NA 12717434, 2463956 Standard NM_139279 NM_139279 NA Approved F5F8D, LMAN1IP, SDNSF uc021vha.1 Q8NI22 OTTHUMG00000153100 ENST00000409800.1:c.7-138T>C chr2.hg19:g.47135246A>G NA A8K7W2|D6W5A9|E9PD95|Q53SS3|Q68D61|Q8N3M5 hg19 CCDS54354.1 0.02 2.010152 CTCxAGG COVERED NOVEL MCFD2-008 PUTATIVE alternative_5_UTR|basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000329524.1 0 2.707622 KEEP 0 0 0 9 263 AA 0.99254 0.992503 0 - 4 60 149 0 0 9.517605 96 60 3409 110 ENST00000409800.1 0.04 0.999962 TTC7A 57217 __UNKNOWN__ __UNKNOWN__ 2 47251555 47251555 __UNKNOWN__ Intron SNP G G T rs72872958 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:47251555G>T ENST00000319190.5 + 14 2009 TTC7A_ENST00000394850.2_Intron|TTC7A_ENST00000263737.6_Intron|TTC7A_ENST00000461601.1_Intron|TTC7A_ENST00000409245.1_Intron NM_020458.2 NP_065191.2 Q9ULT0 TTC7A_HUMAN tetratricopeptide repeat domain 7A NA NA cellular iron ion homeostasis (GO:0006879)|hemopoiesis (GO:0030097) breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114) TCTTCTCCTGGAAACCCAGct 0.562 NA G||| 1246 0.248802 0.3124 0.2291 5008 , , NA 20088 0.1637 NA 0.1491 False NA ,,, NA NA NA 2504 0.3671 NA NA NA NA 0 G 370,1014 44,282,366 49 51 50 3.4 0.1 2 dbSNP_130 50 431,2751 32,367,1192 no intron TTC7A NM_020458.2 76,649,1558 TT,TG,GG 13.5449,26.7341,17.5427 47251555 801,3765 692 1591 2283 SO:0001627 intron_variant AB032966 CCDS33193.1, CCDS74510.1, CCDS74511.1 2p16.3 2013-01-10 2004-06-02 2004-06-02 ENSG00000068724 ENSG00000068724 57217 Tetratricopeptide (TTC) repeat domain containing 19750 protein-coding gene gene with protein product 609332 tetratricopeptide repeat domain 7 TTC7 NA 10574461 Standard XM_372927 XM_005264439 NA Approved KIAA1140 uc002rvo.3 Q9ULT0 OTTHUMG00000153121 ENST00000319190.5:c.1641+57G>T chr2.hg19:g.47251555G>T NA Q6PIX4|Q8ND67|Q9BUS3 hg19 CCDS33193.1 0.02 18.564679 CTGxAAA COVERED NOVEL TTC7A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000329667.2 3 40.929088 KEEP 0 0 0 136 4755 GG 1 1 0 + 12 60 441 0 0 25.447671 470 60 17557 786 ENST00000319190.5 0.024896 1 TTC7A 57217 __UNKNOWN__ __UNKNOWN__ 2 47277207 47277207 __UNKNOWN__ Intron SNP C C A rs3816066|rs71416119 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:47277207C>A ENST00000319190.5 + 17 2385 TTC7A_ENST00000394850.2_Intron|TTC7A_ENST00000263737.6_Intron|TTC7A_ENST00000409245.1_Intron NM_020458.2 NP_065191.2 Q9ULT0 TTC7A_HUMAN tetratricopeptide repeat domain 7A NA NA cellular iron ion homeostasis (GO:0006879)|hemopoiesis (GO:0030097) breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114) CTCCTTGGGCCACTGTGTGCA 0.612 NA A||| 3060 0.611022 0.8041 0.5519 5008 , , NA 20494 0.748 NA 0.3936 False NA ,,, NA NA NA 2504 0.4744 NA NA NA NA 0 A 734,3672 165,404,1634 63 54 57 1.3 0 2 dbSNP_107 57 320,8280 54,212,4034 no intron TTC7A NM_020458.2 219,616,5668 AA,AC,CC 3.7209,16.6591,8.104 47277207 1054,11952 2203 4300 6503 SO:0001627 intron_variant AB032966 CCDS33193.1, CCDS74510.1, CCDS74511.1 2p16.3 2013-01-10 2004-06-02 2004-06-02 ENSG00000068724 ENSG00000068724 57217 Tetratricopeptide (TTC) repeat domain containing 19750 protein-coding gene gene with protein product 609332 tetratricopeptide repeat domain 7 TTC7 NA 10574461 Standard XM_372927 XM_005264439 NA Approved KIAA1140 uc002rvo.3 Q9ULT0 OTTHUMG00000153121 ENST00000319190.5:c.2017+22C>A chr2.hg19:g.47277207C>A NA Q6PIX4|Q8ND67|Q9BUS3 hg19 CCDS33193.1 0.02 9.259658 GGCxACT COVERED NOVEL TTC7A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000329667.2 3 22.272582 KEEP 0 0 0 74 2614 CC 1 1 0 + 15 60 563 0 0 39.501577 211 60 7905 407 ENST00000319190.5 0.066372 1 TTC7A 57217 __UNKNOWN__ __UNKNOWN__ 2 47277208 47277208 __UNKNOWN__ Intron SNP A A G rs3816065|rs71416119 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:47277208A>G ENST00000319190.5 + 17 2385 TTC7A_ENST00000394850.2_Intron|TTC7A_ENST00000263737.6_Intron|TTC7A_ENST00000409245.1_Intron NM_020458.2 NP_065191.2 Q9ULT0 TTC7A_HUMAN tetratricopeptide repeat domain 7A NA NA cellular iron ion homeostasis (GO:0006879)|hemopoiesis (GO:0030097) breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114) TCCTTGGGCCACTGTGTGCAT 0.617 NA G||| 3070 0.613019 0.8094 0.5519 5008 , , NA 20609 0.75 NA 0.3936 False NA ,,, NA NA NA 2504 0.4755 NA NA NA NA 0 G 825,3581 236,353,1614 63 54 57 -0.5 0 2 dbSNP_129 57 317,8283 64,189,4047 no intron TTC7A NM_020458.2 300,542,5661 GG,GA,AA 3.686,18.7245,8.7806 47277208 1142,11864 2203 4300 6503 SO:0001627 intron_variant AB032966 CCDS33193.1, CCDS74510.1, CCDS74511.1 2p16.3 2013-01-10 2004-06-02 2004-06-02 ENSG00000068724 ENSG00000068724 57217 Tetratricopeptide (TTC) repeat domain containing 19750 protein-coding gene gene with protein product 609332 tetratricopeptide repeat domain 7 TTC7 NA 10574461 Standard XM_372927 XM_005264439 NA Approved KIAA1140 uc002rvo.3 Q9ULT0 OTTHUMG00000153121 ENST00000319190.5:c.2017+23A>G chr2.hg19:g.47277208A>G NA Q6PIX4|Q8ND67|Q9BUS3 hg19 CCDS33193.1 0.02 9.87755 GCCxCTG COVERED NOVEL TTC7A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000329667.2 3 21.964717 KEEP 0 0 0 73 2254 AA 1 1 0 + 16 60 581 0 0 40.895193 208 60 7387 405 ENST00000319190.5 0.071429 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 47905390 47905390 __UNKNOWN__ IGR SNP C C A rs17036817 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:47905390C>A NA NA AC138655.1 (103392 upstream) : MSH6 (17278 downstream) NA NA p.0?(2)|p.?(1) NA TTTCCTAGGCCTGAAATTCAT 0.463 NA C||| 405 0.0808706 0.003 0.0418 5008 , , NA 22588 0.2937 NA 0.0408 False NA ,,, NA NA NA 2504 0.0358 NA NA NA NA 3 Whole gene deletion(2)|Unknown(1) haematopoietic_and_lymphoid_tissue(2)|prostate(1) NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.47905390C>A NA hg19 0.02 8.395951 GGCxTGA COVERED NOVEL 0 1 9.02959 KEEP 0 0 0 30 1078 CC 0.999997 0.999997 0 13 60 444 1 0 29.242724 210 60 7795 296 0.058296 1 PPP1R21 129285 __UNKNOWN__ __UNKNOWN__ 2 48725610 48725610 __UNKNOWN__ Intron SNP C C T rs3811519 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:48725610C>T ENST00000294952.8 + 17 1849 PPP1R21_ENST00000281394.4_Intron|PPP1R21_ENST00000449090.2_Intron NM_001135629.2 NP_001129101.1 Q6ZMI0 PPR21_HUMAN protein phosphatase 1, regulatory subunit 21 NA NA membrane (GO:0016020) phosphatase binding (GO:0019902) endometrium(2)|kidney(4)|lung(9) 15 CTCTAAGATACAACACTCTGT 0.338 NA C||| 2391 0.477436 0.5371 0.5173 5008 , , NA 18800 0.244 NA 0.5089 False NA ,,, NA NA NA 2504 0.5767 NA NA NA NA 0 C ,, 2242,2160 532.0+/-373.3 567,1108,526 40 41 41 ,, -5.9 0 2 dbSNP_107 41 4466,4134 569.1+/-389.1 1171,2124,1005 no intron,intron,intron KLRAQ1 NM_001135629.2,NM_001193475.1,NM_152994.4 ,, 1738,3232,1531 TT,TC,CC 48.0698,49.0686,48.4079 ,, ,, 48725610 6708,6294 2201 4300 6501 SO:0001627 intron_variant AY134855 CCDS1839.1, CCDS46278.1, CCDS54358.1 2p16.3 2012-04-17 2011-10-11 2011-10-11 ENSG00000162869 ENSG00000162869 129285 Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits 30595 protein-coding gene gene with protein product coiled-coil domain containing 128, KLRAQ motif containing 1 CCDC128, KLRAQ1 NA 12477932 Standard NM_152994 NM_001135629 NA Approved FLJ16566 uc002rwm.3 Q6ZMI0 OTTHUMG00000129167 ENST00000294952.8:c.1693-22C>T chr2.hg19:g.48725610C>T NA B7ZKY5|B7ZKY7|E1B6W7|Q2TA78|Q6ZMI6|Q8IW83|Q8J029|Q96ES8 hg19 CCDS46278.1 0.02 1.965517 ATAxAAC COVERED NOVEL PPP1R21-009 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251238.4 0 4.213173 KEEP 0 0 0 14 473 CC 0.995343 0.992519 0 + 4 60 144 0 0 9.628169 67 60 2433 92 ENST00000294952.8 0.056338 0.997163 STON1-GTF2A1L 286749 __UNKNOWN__ __UNKNOWN__ 2 48844968 48844968 __UNKNOWN__ Intron SNP C C G rs2293269 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:48844968C>G ENST00000394754.1 + 4 2247 STON1-GTF2A1L_ENST00000394751.3_Intron|STON1-GTF2A1L_ENST00000405008.1_Intron|GTF2A1L_ENST00000430487.2_5'UTR|STON1-GTF2A1L_ENST00000402114.2_Intron|STON1-GTF2A1L_ENST00000309827.2_Intron NM_172311.2 NP_758515.1 STON1-GTF2A1L readthrough NA NA NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4) 91 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) TCCGAGGGCACTGCGTGCCGC 0.627 NA C||| 3249 0.648762 0.3986 0.7147 5008 , , NA 17903 0.9315 NA 0.6829 False NA ,,, NA NA NA 2504 0.6135 NA NA NA NA 0 C ,,,, 1962,1752 552,858,447 21 28 26 ,,,, -1.9 0 2 dbSNP_100 26 4836,2248 1703,1430,409 no utr-5,intron,intron,utr-5,intron GTF2A1L,STON1-GTF2A1L NM_001193487.1,NM_001198593.1,NM_001198594.1,NM_006872.3,NM_172311.2 ,,,, 2255,2288,856 GG,GC,CC 31.7335,47.1729,37.0439 ,,,, ,,,, 48844968 6798,4000 1857 3542 5399 SO:0001627 intron_variant AF026169 CCDS1840.1, CCDS56118.1, CCDS56119.1 2p16.3 2009-09-17 ENSG00000068781 ENSG00000068781 286749 30651 other readthrough stoned B/TFIIA alpha/beta like factor NA 10364255, 11159353 Standard NM_172311 NA Approved SALF uc010yol.2 OTTHUMG00000152037 ENST00000394754.1:c.2134-3022C>G chr2.hg19:g.48844968C>G NA hg19 CCDS1840.1 0.02 14.840034 GCAxTGC COVERED NOVEL STON1-GTF2A1L-002 KNOWN alternative_5_UTR|basic|appris_principal|readthrough_transcript|CCDS protein_coding NA protein_coding OTTHUMT00000251241.1 4 12.947097 KEEP 0 3 100 78 2793 CC 1 1 0 + 16 60 605 0 0 40.872913 290 60 10940 509 ENST00000394754.1 0.052288 1 LHCGR 3973 __UNKNOWN__ __UNKNOWN__ 2 48915871 48915871 __UNKNOWN__ Silent SNP A A G rs11125179 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:48915871A>G ENST00000294954.7 - 11 1086 c.1065T>C c.(1063-1065)gaT>gaC p.D355D LHCGR_ENST00000344775.3_Silent_p.D293D|LHCGR_ENST00000403273.1_Intron|LHCGR_ENST00000401907.1_Intron|LHCGR_ENST00000405626.1_Silent_p.D328D|STON1-GTF2A1L_ENST00000402114.2_Intron NM_000233.3 NP_000224.2 P22888 LSHR_HUMAN luteinizing hormone/choriogonadotropin receptor 355 NA activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065) endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964) NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 56 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032) AGCCCATAATATCTTCACAGG 0.438 NA A||| 2966 0.592252 0.2542 0.6643 5008 , , NA 19323 0.9236 NA 0.6382 False NA ,,, NA NA NA 2504 0.6094 NA NA NA NA 0 A , 1382,3024 454.9+/-350.8 224,934,1045 134 134 134 1065, -0.9 1 2 dbSNP_120 134 5078,3522 631.5+/-398.5 1497,2084,719 no coding-synonymous,intron LHCGR,STON1-GTF2A1L NM_000233.3,NM_001198593.1 , 1721,3018,1764 GG,GA,AA 40.9535,31.3663,49.6694 , 355/700, 48915871 6460,6546 2203 4300 6503 SO:0001819 synonymous_variant CCDS1842.1 2p21 2012-08-10 ENSG00000138039 ENSG00000138039 3973 GPCR / Class A : Gonadotropin and TSH receptors 6585 protein-coding gene gene with protein product 152790 hypergonadotropic hypogonadism HHG NA Standard NM_000233.3 NM_000233 NA Approved LHR, LCGR, LGR2, ULG5 uc002rwu.4 P22888 OTTHUMG00000129257 ENST00000294954.7:c.1065T>C chr2.hg19:g.48915871A>G NA Q14751|Q15996|Q9UEW9 hg19 CCDS1842.1 0.02 19.797249 AATxTCT COVERED NOVEL LHCGR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251364.4 3 8.861478 KEEP 0 1 39 43 1337 AA 1 1 0 - 34 60 1294 0 0 94.287496 388 60 13994 543 ENST00000294954.7 0.080569 1 LHCGR 3973 __UNKNOWN__ __UNKNOWN__ 2 48921375 48921375 __UNKNOWN__ Missense_Mutation SNP T T C rs2293275 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:48921375T>C ENST00000294954.7 - 10 956 c.935A>G c.(934-936)aAt>aGt p.N312S LHCGR_ENST00000344775.3_Missense_Mutation_p.N250S|LHCGR_ENST00000403273.1_Missense_Mutation_p.N312S|LHCGR_ENST00000401907.1_Missense_Mutation_p.N312S|LHCGR_ENST00000405626.1_Intron|STON1-GTF2A1L_ENST00000402114.2_Intron NM_000233.3 NP_000224.2 P22888 LSHR_HUMAN luteinizing hormone/choriogonadotropin receptor 312 NA N -> S (in dbSNP:rs2293275). {ECO:0000269|PubMed:2244890, ECO:0000269|PubMed:7556872}. Missing (in Ref. 3; AAA70231). {ECO:0000305}. activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065) endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964) NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 56 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032) TGTTTTGTTATTCACTTTCCT 0.323 NA T||| 2960 0.591054 0.2352 0.6657 5008 , , NA 18928 0.9276 NA 0.6402 False NA ,,, NA NA NA 2504 0.6217 NA NA NA NA 0 T SER/ASN, 1307,3093 429.3+/-342.2 203,901,1096 137 102 114 935, 3.9 0.8 2 dbSNP_100 114 5074,3516 612.9+/-396.0 1492,2090,713 yes missense,intron LHCGR,STON1-GTF2A1L NM_000233.3,NM_001198593.1 46, 1695,2991,1809 CC,CT,TT 40.9313,29.7045,49.1224 benign, 312/700, 48921375 6381,6609 2200 4295 6495 SO:0001583 missense CCDS1842.1 2p21 2012-08-10 ENSG00000138039 ENSG00000138039 3973 GPCR / Class A : Gonadotropin and TSH receptors 6585 protein-coding gene gene with protein product 152790 hypergonadotropic hypogonadism HHG NA Standard NM_000233.3 NM_000233 NA Approved LHR, LCGR, LGR2, ULG5 uc002rwu.4 P22888 OTTHUMG00000129257 ENST00000294954.7:c.935A>G chr2.hg19:g.48921375T>C ENSP00000294954:p.Asn312Ser NA Q14751|Q15996|Q9UEW9 hg19 CCDS1842.1 0.02 4.590545 TTAxTCA COVERED 1387 0.63507326007326 125 0.2540650406504065 262 0.7237569060773481 529 0.9248251748251748 471 0.6213720316622692 T 4.051 0.007198 0.07866 0.297045 0.590687 ENSG00000138039 ENST00000344775;ENST00000294954;ENST00000403273;ENST00000401907 T;T;T;T 0.78003 -0.95;-0.77;-1.14;-0.97 5.09 3.9 0.45041 . 0.636684 0.17257 N 0.180938 T 0.00012 0.0000 N 0.17564 0.495 0.35412 P 0.20750199999999996 B 0.11235 0.004 B 0.08055 0.003 T 0.34030 -0.9845 8 . . . . 9.9216 0.41468 0.0:0.0:0.3586:0.6414 rs2293275;rs17398177;rs52807977;rs60456102;rs2293275 312 P22888 LSHR_HUMAN S 250;312;312;312 ENSP00000344301:N250S;ENSP00000294954:N312S;ENSP00000385847:N312S;ENSP00000385406:N312S . N - 2 0 LHCGR 48774879 0.889000 0.30405 0.794000 0.32065 0.151000 0.21798 1.185000 0.32065 0.848000 0.35191 0.460000 0.39030 AAT NOVEL LHCGR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251364.4 0 7.219261 KEEP 0 0 0 24 719 TT 0.999909 0.999909 0 - 6 60 238 0 0 16.00465 129 60 4827 195 ENST00000294954.7 0.044444 1 LHCGR 3973 __UNKNOWN__ __UNKNOWN__ 2 48948707 48948707 __UNKNOWN__ Intron SNP A A C rs68073206 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:48948707A>C ENST00000294954.7 - 6 558 LHCGR_ENST00000344775.3_Intron|LHCGR_ENST00000403273.1_Intron|LHCGR_ENST00000401907.1_Intron|LHCGR_ENST00000405626.1_Intron|STON1-GTF2A1L_ENST00000402114.2_Intron NM_000233.3 NP_000224.2 P22888 LSHR_HUMAN luteinizing hormone/choriogonadotropin receptor NA NA activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065) endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964) NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 56 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032) TACATGTAAAATTACATCTAC 0.333 NA A||| 1331 0.265775 0.0681 0.2983 5008 , , NA 19684 0.3433 NA 0.4105 False NA ,,, NA NA NA 2504 0.2812 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS1842.1 2p21 2012-08-10 ENSG00000138039 ENSG00000138039 3973 GPCR / Class A : Gonadotropin and TSH receptors 6585 protein-coding gene gene with protein product 152790 hypergonadotropic hypogonadism HHG NA Standard NM_000233.3 NM_000233 NA Approved LHR, LCGR, LGR2, ULG5 uc002rwu.4 P22888 OTTHUMG00000129257 ENST00000294954.7:c.536+1887T>G chr2.hg19:g.48948707A>C NA Q14751|Q15996|Q9UEW9 hg19 CCDS1842.1 0.02 12.559374 AAAxTTA COVERED NOVEL LHCGR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251364.4 2 9.864493 KEEP 0 1 35 45 1421 AA 1 1 0 - 9 60 335 0 0 19.905758 318 60 11494 418 ENST00000294954.7 0.027523 1 NRXN1 9378 __UNKNOWN__ __UNKNOWN__ 2 51255832 51255832 __UNKNOWN__ 5'UTR SNP T T G rs67661616 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:51255832T>G ENST00000404971.1 - 0 919 NRXN1_ENST00000405581.1_5'UTR|NRXN1_ENST00000406316.2_5'UTR|NRXN1_ENST00000405472.3_5'UTR|NRXN1_ENST00000401669.2_5'UTR NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 NA NA adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625) axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734) acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872) breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) GTTCCACCAGTGGTACCAGGC 0.428 NA T||| 866 0.172923 0.0787 0.1873 5008 , , NA 20880 0.1647 NA 0.2684 False NA ,,, NA NA NA 2504 0.2004 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AB011150 CCDS1845.1, CCDS46282.1, CCDS54360.1 2p16.3 2008-05-15 ENSG00000179915 ENSG00000179915 9378 8008 protein-coding gene gene with protein product 600565 NA Standard NM_001135659 NA Approved KIAA0578, Hs.22998 uc021vhj.1 P58400 OTTHUMG00000129263 ENST00000404971.1:c.-421A>C chr2.hg19:g.51255832T>G NA A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6 hg19 CCDS46282.1 0.02 4.021276 CAGxGGT COVERED NOVEL NRXN1-002 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000323894.3 0 4.210963 KEEP 0 0 0 14 405 TT 0.995343 0.995343 0 - 5 60 178 0 0 10.777155 138 60 4938 181 ENST00000404971.1 0.034965 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 52799612 52799612 __UNKNOWN__ IGR SNP G G C rs60870297 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:52799612G>C NA NA AC139712.4 (71722 upstream) : MIR4431 (130047 downstream) NA NA NA TGACCCCGACGTGGTTCTGGC 0.647 NA G||| 733 0.146366 0.152 0.2334 5008 , , NA 14294 0.1468 NA 0.1252 False NA ,,, NA NA NA 2504 0.0982 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.52799612G>C NA hg19 0.02 11.831753 GACxTGG COVERED NOVEL 0 0 15.049715 KEEP 0 1 34 62 2127 GG 1 1 0 17 60 627 0 0 42.587853 278 60 10033 457 0.057627 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 52799669 52799669 __UNKNOWN__ IGR SNP G G A rs58520233 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:52799669G>A NA NA AC139712.4 (71779 upstream) : MIR4431 (129990 downstream) NA NA NA CCTGTGAGCGGGCATGCCGGC 0.652 NA G||| 734 0.146565 0.1528 0.2334 5008 , , NA 12611 0.1468 NA 0.1252 False NA ,,, NA NA NA 2504 0.0982 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.52799669G>A NA hg19 0.02 6.587428 GCGxGCA COVERED NOVEL 0 0 3.881694 KEEP 0 2 63 35 1202 GG 1 1 0 11 60 387 0 0 25.737035 178 60 6368 272 0.058201 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 53682107 53682107 __UNKNOWN__ IGR SNP G G A rs4672432 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:53682107G>A NA NA AC010967.2 (544949 upstream) : SCARNA16 (15477 downstream) NA NA NA gtcatagcacgctgggcagaa 0.443 NA G||| 1813 0.362021 0.2852 0.3559 5008 , , NA 20403 0.38 NA 0.3569 False NA ,,, NA NA NA 2504 0.4571 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.53682107G>A NA hg19 0.02 -0.306967 CACxCTG COVERED NOVEL 0 1 2.7081 KEEP 0 0 0 9 287 GG 0.99254 0.794276 0 4 60 143 0 0 10.808223 31 60 984 45 0.114286 0.800245 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 54557360 54557360 __UNKNOWN__ IGR SNP A A G rs59595339 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:54557360A>G NA NA ACYP2 (24923 upstream) : C2orf73 (678 downstream) NA NA NA AGTGCTACACATACAAGCCCC 0.517 NA A||| 459 0.0916534 0.003 0.0793 5008 , , NA 17457 0.2569 NA 0.0308 False NA ,,, NA NA NA 2504 0.1125 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.54557360A>G NA hg19 0.02 8.662569 CACxTAC COVERED NOVEL 0 2 19.551776 KEEP 0 0 0 65 1916 AA 1 1 0 13 60 458 0 0 31.008631 191 60 6794 312 0.063725 1 SPTBN1 6711 __UNKNOWN__ __UNKNOWN__ 2 54839240 54839240 __UNKNOWN__ Intron SNP G G A rs3796015 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:54839240G>A ENST00000356805.4 + 4 581 SPTBN1_ENST00000333896.5_Intron NM_003128.2 NP_003119.2 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 NA NA actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661) axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731) actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200) NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 82 Lung(47;0.24) GCAGTAACTCGGGGTTCATCT 0.483 NA G||| 334 0.0666933 0.1188 0.1052 5008 , , NA 21538 0.005 NA 0.0298 False NA ,,, NA NA NA 2504 0.0706 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS33198.1, CCDS33199.1 2p21 2013-01-10 ENSG00000115306 ENSG00000115306 6711 Pleckstrin homology (PH) domain containing 11275 protein-coding gene gene with protein product 182790 NA Standard NM_003128 NA Approved uc002rxu.3 Q01082 OTTHUMG00000133746 ENST00000356805.4:c.301-58G>A chr2.hg19:g.54839240G>A NA B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99 hg19 CCDS33198.1 0.02 6.250819 CTCxGGG COVERED NOVEL SPTBN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000258115.3 2 18.05669 KEEP 0 0 0 60 2036 GG 1 1 0 + 8 60 283 0 0 17.83797 176 60 5982 295 ENST00000356805.4 0.043478 1 SPTBN1 6711 __UNKNOWN__ __UNKNOWN__ 2 54858439 54858439 __UNKNOWN__ Silent SNP C C T rs1804472 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:54858439C>T ENST00000356805.4 + 16 3536 c.3255C>T c.(3253-3255)atC>atT p.I1085I SPTBN1_ENST00000333896.5_Silent_p.I1072I NM_003128.2 NP_003119.2 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 1085 NA actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661) axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731) actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200) NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 82 Lung(47;0.24) AGACAGCGATCGCCTCGGAGG 0.587 NA C||| 138 0.0275559 0.0151 0.0965 5008 , , NA 22112 0.004 NA 0.0298 False NA ,,, NA NA NA 2504 0.0174 NA NA NA NA 0 C , 71,4335 64.7+/-102.0 1,69,2133 99 92 94 3255,3216 1.8 1 2 dbSNP_89 94 410,8190 128.8+/-187.0 9,392,3899 no coding-synonymous,coding-synonymous SPTBN1 NM_003128.2,NM_178313.2 , 10,461,6032 TT,TC,CC 4.7674,1.6114,3.6983 , 1085/2365,1072/2156 54858439 481,12525 2203 4300 6503 SO:0001819 synonymous_variant CCDS33198.1, CCDS33199.1 2p21 2013-01-10 ENSG00000115306 ENSG00000115306 6711 Pleckstrin homology (PH) domain containing 11275 protein-coding gene gene with protein product 182790 NA Standard NM_003128 NA Approved uc002rxu.3 Q01082 OTTHUMG00000133746 ENST00000356805.4:c.3255C>T chr2.hg19:g.54858439C>T NA B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99 hg19 CCDS33198.1 0.02 14.824522 GATxGCC COVERED NOVEL SPTBN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000258115.3 0 34.907148 KEEP 0 0 0 116 3876 CC 1 1 0 + 16 60 561 0 0 34.832947 380 60 13404 582 ENST00000356805.4 0.040404 1 SPTBN1 6711 __UNKNOWN__ __UNKNOWN__ 2 54882291 54882291 __UNKNOWN__ Silent SNP C C A rs17344343 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:54882291C>A ENST00000356805.4 + 28 6188 c.5907C>A c.(5905-5907)acC>acA p.T1969T SPTBN1_ENST00000333896.5_Silent_p.T1956T NM_003128.2 NP_003119.2 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 1969 Interaction with ANK2. NA actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661) axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731) actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200) NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 82 Lung(47;0.24) GTTTCACAACCTGCATTGAAC 0.413 NA C||| 137 0.0273562 0.0121 0.0951 5008 , , NA 22624 0.003 NA 0.0298 False NA ,,, NA NA NA 2504 0.0225 NA NA NA NA 0 C , 69,4337 63.5+/-100.7 0,69,2134 166 129 141 5907,5868 2.7 1 2 dbSNP_123 141 408,8192 128.7+/-186.9 9,390,3901 no coding-synonymous,coding-synonymous SPTBN1 NM_003128.2,NM_178313.2 , 9,459,6035 AA,AC,CC 4.7442,1.566,3.6675 , 1969/2365,1956/2156 54882291 477,12529 2203 4300 6503 SO:0001819 synonymous_variant CCDS33198.1, CCDS33199.1 2p21 2013-01-10 ENSG00000115306 ENSG00000115306 6711 Pleckstrin homology (PH) domain containing 11275 protein-coding gene gene with protein product 182790 NA Standard NM_003128 NA Approved uc002rxu.3 Q01082 OTTHUMG00000133746 ENST00000356805.4:c.5907C>A chr2.hg19:g.54882291C>A NA B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99 hg19 CCDS33198.1 0.02 11.684521 AACxTGC COVERED NOVEL SPTBN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000258115.3 1 27.690337 KEEP 0 0 0 92 3276 CC 1 1 0 + 17 60 634 0 0 43.387825 274 60 10288 473 ENST00000356805.4 0.058419 1 EML6 400954 __UNKNOWN__ __UNKNOWN__ 2 55155551 55155551 __UNKNOWN__ Silent SNP C C T rs733916 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:55155551C>T ENST00000356458.6 + 26 4297 c.3777C>T c.(3775-3777)gcC>gcT p.A1259A NM_001039753.2 NP_001034842.2 Q6ZMW3 EMAL6_HUMAN echinoderm microtubule associated protein like 6 1259 NA cytoplasm (GO:0005737)|microtubule (GO:0005874) breast(1)|endometrium(6) 7 TGGGCGGCGCCGACACAGCCC 0.587 NA C||| 612 0.122204 0.0061 0.1988 5008 , , NA 18230 0.1855 NA 0.0706 False NA ,,, NA NA NA 2504 0.2127 NA NA NA NA 0 C 23,1361 0,23,669 62 62 62 3777 -11.9 0 2 dbSNP_86 62 223,2959 8,207,1376 no coding-synonymous EML6 NM_001039753.2 8,230,2045 TT,TC,CC 7.0082,1.6618,5.3876 1259/1959 55155551 246,4320 692 1591 2283 SO:0001819 synonymous_variant CCDS46286.1 2p16.1 2013-01-10 ENSG00000214595 ENSG00000214595 400954 WD repeat domain containing 35412 protein-coding gene gene with protein product NA Standard XM_001725002 NM_001039753 NA Approved FLJ42562 uc002ryb.4 Q6ZMW3 OTTHUMG00000152035 ENST00000356458.6:c.3777C>T chr2.hg19:g.55155551C>T NA A8MUB5|B6ZDG7 hg19 CCDS46286.1 0.02 11.196796 CGCxGAC COVERED NOVEL EML6-001 NOVEL basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000324997.3 1 14.145035 KEEP 0 0 0 47 1605 CC 1 1 0 + 9 60 335 0 0 20.725191 257 60 8994 375 ENST00000356458.6 0.033835 1 EML6 400954 __UNKNOWN__ __UNKNOWN__ 2 55191141 55191141 __UNKNOWN__ Missense_Mutation SNP G G C rs566090691 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:55191141G>C ENST00000356458.6 + 36 5697 c.5177G>C c.(5176-5178)aGc>aCc p.S1726T EML6_ENST00000490828.1_3'UTR NM_001039753.2 NP_001034842.2 Q6ZMW3 EMAL6_HUMAN echinoderm microtubule associated protein like 6 1726 NA cytoplasm (GO:0005737)|microtubule (GO:0005874) breast(1)|endometrium(6) 7 AACAAGGTGAGCTTGGGCCAT 0.542 NA G||| 5 0.000998403 0.0 0.0 5008 , , NA 20093 0.002 NA 0.001 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 137 127 130 NA NA 2 NA 55191141 692 1591 2283 SO:0001583 missense CCDS46286.1 2p16.1 2013-01-10 ENSG00000214595 ENSG00000214595 400954 WD repeat domain containing 35412 protein-coding gene gene with protein product NA Standard XM_001725002 NM_001039753 NA Approved FLJ42562 uc002ryb.4 Q6ZMW3 OTTHUMG00000152035 ENST00000356458.6:c.5177G>C chr2.hg19:g.55191141G>C ENSP00000348842:p.Ser1726Thr NA A8MUB5|B6ZDG7 hg19 CCDS46286.1 0.02 6.113946 TGAxCTT COVERED . . . . . . . . . . G 14.28 2.487126 0.44249 . . ENSG00000214595 ENST00000356458 T 0.17370 2.28 5.85 -4.14 0.03892 WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1); 0.302034 0.45606 D 0.000345 T 0.09202 0.0227 L 0.34521 1.04 0.19575 N 0.999965 B 0.02656 0.0 B 0.04013 0.001 T 0.33904 -0.9850 10 0.19147 T 0.46 . 9.0855 0.36579 0.3162:0.215:0.4688:0.0 . 1726 Q6ZMW3 EMAL6_HUMAN T 1726 ENSP00000348842:S1726T ENSP00000348842:S1726T S + 2 0 EML6 55044645 0.270000 0.24152 0.930000 0.37139 0.937000 0.57800 0.501000 0.22578 -0.511000 0.06514 0.643000 0.83706 AGC NOVEL EML6-001 NOVEL basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000324997.3 3 8.728394 KEEP 0 0 0 29 1044 GG 0.999997 0.999997 0 + 7 60 237 0 0 14.691368 147 60 5490 201 ENST00000356458.6 0.045455 1 EML6 400954 __UNKNOWN__ __UNKNOWN__ 2 55195768 55195768 __UNKNOWN__ Intron SNP G G C rs114778157 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:55195768G>C ENST00000356458.6 + 40 6271 EML6_ENST00000490828.1_Intron NM_001039753.2 NP_001034842.2 Q6ZMW3 EMAL6_HUMAN echinoderm microtubule associated protein like 6 NA NA cytoplasm (GO:0005737)|microtubule (GO:0005874) breast(1)|endometrium(6) 7 GAGGAGCCAGGGTCTCTTAGC 0.502 NA G||| 84 0.0167732 0.0015 0.0187 5008 , , NA 21468 0.002 NA 0.0328 False NA ,,, NA NA NA 2504 0.0348 NA NA NA NA 0 G 6,1378 0,6,686 114 96 101 1.4 0 2 dbSNP_132 101 96,3086 2,92,1497 no intron EML6 NM_001039753.2 2,98,2183 CC,CG,GG 3.017,0.4335,2.2339 55195768 102,4464 692 1591 2283 SO:0001627 intron_variant CCDS46286.1 2p16.1 2013-01-10 ENSG00000214595 ENSG00000214595 400954 WD repeat domain containing 35412 protein-coding gene gene with protein product NA Standard XM_001725002 NM_001039753 NA Approved FLJ42562 uc002ryb.4 Q6ZMW3 OTTHUMG00000152035 ENST00000356458.6:c.5752-36G>C chr2.hg19:g.55195768G>C NA A8MUB5|B6ZDG7 hg19 CCDS46286.1 0.02 6.125847 CAGxGTC COVERED NOVEL EML6-001 NOVEL basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000324997.3 0 13.24323 KEEP 0 0 0 44 1554 GG 1 1 0 + 8 60 282 0 0 18.142399 156 60 5692 246 ENST00000356458.6 0.04878 1 RTN4 57142 __UNKNOWN__ __UNKNOWN__ 2 55277712 55277712 __UNKNOWN__ 5'UTR SNP C C T rs2241958 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:55277712C>T ENST00000394611.2 - 0 22 RTN4_ENST00000404909.1_Intron Q9NQC3 RTN4_HUMAN reticulon 4 NA NA angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334) cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886) poly(A) RNA binding (GO:0044822) NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1) 36 GTGACTCACCCTCCCCAGGGG 0.677 NA C||| 545 0.108826 0.0053 0.1671 5008 , , NA 15632 0.1746 NA 0.0686 False NA ,,, NA NA NA 2504 0.181 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF087901 CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1 2p14-p13 2008-05-23 ENSG00000115310 ENSG00000115310 57142 14085 protein-coding gene gene with protein product 604475 NA 10667797, 10773680 Standard NM_020532 NA Approved NSP-CL, KIAA0886, NOGO, ASY uc002rye.3 Q9NQC3 OTTHUMG00000129337 ENST00000394611.2:c.-211G>A chr2.hg19:g.55277712C>T NA O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6 hg19 CCDS1852.1 0.02 6.298891 ACCxTCC COVERED NOVEL RTN4-013 KNOWN alternative_5_UTR|basic|CCDS protein_coding NA protein_coding OTTHUMT00000326454.1 2 40.31535 KEEP 0 0 0 134 4791 CC 1 1 0 - 6 60 210 0 0 12.647337 161 60 6012 376 ENST00000394611.2 0.035928 1 CLHC1 130162 __UNKNOWN__ __UNKNOWN__ 2 55404925 55404925 __UNKNOWN__ Intron SNP C C T rs6545477 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:55404925C>T ENST00000401408.1 - 12 1730 CLHC1_ENST00000407122.1_Intron|CLHC1_ENST00000406437.2_Intron|CLHC1_ENST00000406076.1_Intron|CLHC1_ENST00000494539.1_Intron NM_152385.2 NP_689598.2 Q8NHS4 CLHC1_HUMAN clathrin heavy chain linker domain containing 1 NA NA NA CATCTGAAGGCAAAAATGAAA 0.338 NA C||| 999 0.199481 0.3669 0.1715 5008 , , NA 18009 0.0367 NA 0.2147 False NA ,,, NA NA NA 2504 0.1452 NA NA NA NA 0 C , 1572,2834 483.2+/-359.6 277,1018,908 52 53 53 , 2.2 0.3 2 dbSNP_116 53 1887,6713 332.1+/-320.0 225,1437,2638 no intron,intron C2orf63 NM_001135598.1,NM_152385.2 , 502,2455,3546 TT,TC,CC 21.9419,35.6786,26.5954 , , 55404925 3459,9547 2203 4300 6503 SO:0001627 intron_variant CCDS33201.1, CCDS46287.1 2p16.1 2012-08-03 2012-08-03 2012-08-03 ENSG00000162994 ENSG00000162994 130162 26453 protein-coding gene gene with protein product chromosome 2 open reading frame 63 C2orf63 NA Standard NM_152385 NM_152385 NA Approved FLJ31438 uc002ryi.2 Q8NHS4 OTTHUMG00000151918 ENST00000401408.1:c.1385-8G>A chr2.hg19:g.55404925C>T NA B2RDV1|Q53R93|Q8N403 hg19 CCDS33201.1 0.02 1.698676 AGGxAAA COVERED NOVEL CLHC1-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000324412.4 0 7.223888 KEEP 0 0 0 24 880 CC 0.999909 0.999745 0 - 5 60 177 0 0 11.702528 85 60 3228 139 ENST00000401408.1 0.055556 0.999835 CLHC1 130162 __UNKNOWN__ __UNKNOWN__ 2 55436934 55436934 __UNKNOWN__ Missense_Mutation SNP G G A rs9677948 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:55436934G>A ENST00000401408.1 - 6 878 c.533C>T c.(532-534)gCt>gTt p.A178V CLHC1_ENST00000407122.1_Missense_Mutation_p.A178V|CLHC1_ENST00000406437.2_Intron|CLHC1_ENST00000406076.1_Missense_Mutation_p.A56V|CLHC1_ENST00000494539.1_Intron NM_152385.2 NP_689598.2 Q8NHS4 CLHC1_HUMAN clathrin heavy chain linker domain containing 1 178 NA A -> V (in dbSNP:rs9677948). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}. NA TTTAGTGAGAGCATCTAGATT 0.393 NA G||| 1053 0.210264 0.3699 0.1715 5008 , , NA 16962 0.0853 NA 0.2137 False NA ,,, NA NA NA 2504 0.1472 NA NA NA NA 0 G VAL/ALA,VAL/ALA 1585,2821 484.4+/-360.0 288,1009,906 48 46 46 167,533 3.3 0.9 2 dbSNP_119 46 1885,6709 321.3+/-315.0 224,1437,2636 yes missense,missense C2orf63 NM_001135598.1,NM_152385.2 64,64 512,2446,3542 AA,AG,GG 21.9339,35.9737,26.6923 benign,benign 56/465,178/587 55436934 3470,9530 2203 4297 6500 SO:0001583 missense CCDS33201.1, CCDS46287.1 2p16.1 2012-08-03 2012-08-03 2012-08-03 ENSG00000162994 ENSG00000162994 130162 26453 protein-coding gene gene with protein product chromosome 2 open reading frame 63 C2orf63 NA Standard NM_152385 NM_152385 NA Approved FLJ31438 uc002ryi.2 Q8NHS4 OTTHUMG00000151918 ENST00000401408.1:c.533C>T chr2.hg19:g.55436934G>A ENSP00000384869:p.Ala178Val NA B2RDV1|Q53R93|Q8N403 hg19 CCDS33201.1 0.02 9.419584 AGAxCAT COVERED 463 0.211996336996337 199 0.40447154471544716 60 0.16574585635359115 43 0.07517482517482517 161 0.21240105540897097 G 19.13 3.767599 0.69878 0.359737 0.219339 ENSG00000162994 ENST00000407122;ENST00000401408;ENST00000406076 T;T;T 0.19669 2.13;2.13;2.15 5.21 3.33 0.38152 . 0.382481 0.23098 N 0.051951 T 0.00012 0.0000 M 0.62723 1.935 0.19300 P 0.9999714307 P 0.52463 0.953 P 0.47744 0.556 T 0.47446 -0.9117 9 0.33141 T 0.24 -5.2384 5.1184 0.14847 0.0801:0.1438:0.6276:0.1485 rs9677948;rs17846200;rs17859215;rs52789690;rs59173455;rs9677948 178 Q8NHS4 CB063_HUMAN V 178;178;56 ENSP00000385778:A178V;ENSP00000384869:A178V;ENSP00000385512:A56V ENSP00000384869:A178V A - 2 0 C2orf63 55290438 0.991000 0.36638 0.892000 0.35008 0.942000 0.58702 2.381000 0.44336 1.195000 0.43115 0.655000 0.94253 GCT NOVEL CLHC1-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000324412.4 0 15.046065 KEEP 0 0 0 50 1745 GG 1 1 0 - 9 60 307 0 0 17.473946 290 60 10940 405 ENST00000401408.1 0.0301 1 CLHC1 130162 __UNKNOWN__ __UNKNOWN__ 2 55449412 55449412 __UNKNOWN__ Missense_Mutation SNP C C A rs74785222 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:55449412C>A ENST00000401408.1 - 3 481 c.136G>T c.(136-138)Gct>Tct p.A46S CLHC1_ENST00000407122.1_Missense_Mutation_p.A46S|CLHC1_ENST00000494539.1_Intron|CLHC1_ENST00000406437.2_5'UTR|CLHC1_ENST00000406076.1_Intron NM_152385.2 NP_689598.2 Q8NHS4 CLHC1_HUMAN clathrin heavy chain linker domain containing 1 46 NA NA TATTCATCAGCAGGTCCTTCC 0.343 NA C||| 132 0.0263578 0.0061 0.0202 5008 , , NA 17592 0.0278 NA 0.0358 False NA ,,, NA NA NA 2504 0.047 NA NA NA NA 0 C ,SER/ALA 61,4345 58.7+/-95.3 0,61,2142 207 199 202 ,136 4.7 1 2 dbSNP_131 202 339,8261 117.0+/-176.6 7,325,3968 yes intron,missense C2orf63 NM_001135598.1,NM_152385.2 ,99 7,386,6110 AA,AC,CC 3.9419,1.3845,3.0755 ,benign ,46/587 55449412 400,12606 2203 4300 6503 SO:0001583 missense CCDS33201.1, CCDS46287.1 2p16.1 2012-08-03 2012-08-03 2012-08-03 ENSG00000162994 ENSG00000162994 130162 26453 protein-coding gene gene with protein product chromosome 2 open reading frame 63 C2orf63 NA Standard NM_152385 NM_152385 NA Approved FLJ31438 uc002ryi.2 Q8NHS4 OTTHUMG00000151918 ENST00000401408.1:c.136G>T chr2.hg19:g.55449412C>A ENSP00000384869:p.Ala46Ser NA B2RDV1|Q53R93|Q8N403 hg19 CCDS33201.1 0.02 30.700446 CAGxAGG COVERED 43 0.019688644688644688 2 0.0040650406504065045 11 0.03038674033149171 8 0.013986013986013986 22 0.029023746701846966 C 22.9 4.348895 0.82132 0.013845 0.039419 ENSG00000162994 ENST00000407122;ENST00000401408;ENST00000451916;ENST00000403506 T;T 0.20598 2.06;2.06 5.58 4.69 0.59074 . 0.067586 0.56097 D 0.000031 T 0.10937 0.0267 M 0.66939 2.045 0.80722 D 1 D 0.69078 0.997 P 0.55923 0.787 T 0.00945 -1.1505 10 0.33940 T 0.23 -8.8901 13.9101 0.63862 0.0:0.8476:0.1524:0.0 . 46 Q8NHS4 CB063_HUMAN S 46 ENSP00000385778:A46S;ENSP00000384869:A46S ENSP00000384869:A46S A - 1 0 C2orf63 55302916 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 2.566000 0.45948 1.315000 0.45114 0.561000 0.74099 GCT NOVEL CLHC1-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000324412.4 4 42.43896 KEEP 0 0 0 141 5083 CC 1 1 0 - 27 60 960 0 0 58.355474 750 60 28550 1145 ENST00000401408.1 0.034749 1 CLHC1 130162 __UNKNOWN__ __UNKNOWN__ 2 55449464 55449464 __UNKNOWN__ Silent SNP T T C rs17852670 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:55449464T>C ENST00000401408.1 - 3 429 c.84A>G c.(82-84)caA>caG p.Q28Q CLHC1_ENST00000407122.1_Silent_p.Q28Q|CLHC1_ENST00000494539.1_Intron|CLHC1_ENST00000406437.2_5'UTR|CLHC1_ENST00000406076.1_Intron NM_152385.2 NP_689598.2 Q8NHS4 CLHC1_HUMAN clathrin heavy chain linker domain containing 1 28 NA NA TTATGTATCTTTGCACACTTT 0.353 NA T||| 1142 0.228035 0.1324 0.2248 5008 , , NA 17106 0.3482 NA 0.2107 False NA ,,, NA NA NA 2504 0.2536 NA NA NA NA 0 T , 656,3748 281.9+/-276.2 59,538,1605 200 198 199 ,84 1.9 1 2 dbSNP_123 199 1862,6738 333.7+/-320.7 206,1450,2644 no intron,coding-synonymous C2orf63 NM_001135598.1,NM_152385.2 , 265,1988,4249 CC,CT,TT 21.6512,14.8955,19.3633 , ,28/587 55449464 2518,10486 2202 4300 6502 SO:0001819 synonymous_variant CCDS33201.1, CCDS46287.1 2p16.1 2012-08-03 2012-08-03 2012-08-03 ENSG00000162994 ENSG00000162994 130162 26453 protein-coding gene gene with protein product chromosome 2 open reading frame 63 C2orf63 NA Standard NM_152385 NM_152385 NA Approved FLJ31438 uc002ryi.2 Q8NHS4 OTTHUMG00000151918 ENST00000401408.1:c.84A>G chr2.hg19:g.55449464T>C NA B2RDV1|Q53R93|Q8N403 hg19 CCDS33201.1 0.02 35.0409 TCTxTGC COVERED NOVEL CLHC1-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000324412.4 1 44.901929 KEEP 0 2 65 172 5463 TT 1 1 0 - 32 60 1225 0 0 79.527711 763 60 27719 1202 ENST00000401408.1 0.040252 1 CCDC104 0 __UNKNOWN__ __UNKNOWN__ 2 55771050 55771050 __UNKNOWN__ Intron SNP C C G rs3816489 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:55771050C>G ENST00000349456.4 + 8 788 CCDC104_ENST00000407816.3_Intron|CCDC104_ENST00000490934.1_Intron|CCDC104_ENST00000339012.3_Intron Q96G28 CFA36_HUMAN NA NA breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2) 14 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) ATTCTAATTGCTCTTATTGTC 0.328 NA G||| 3034 0.605831 0.5711 0.7522 5008 , , NA 21965 0.4315 NA 0.7813 False NA ,,, NA NA NA 2504 0.5481 NA NA NA NA 0 G 2604,1798 478.5+/-358.2 788,1028,385 76 83 81 1.2 1 2 dbSNP_107 81 6621,1973 330.3+/-319.2 2554,1513,230 no intron CCDC104 NM_080667.5 3342,2541,615 GG,GC,CC 22.9579,40.8451,29.0166 55771050 9225,3771 2201 4297 6498 SO:0001627 intron_variant NA NA NA NA ENST00000349456.4:c.641-24C>G chr2.hg19:g.55771050C>G NA Q53SF0|Q53ST9|Q6UY34 hg19 CCDS1854.2 0.02 6.61165 TTGxTCT COVERED NOVEL CCDC104-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000319610.2 2 4.213555 KEEP 0 0 0 14 480 CC 0.995343 0.995343 0 + 14 60 485 0 0 34.124661 163 60 6013 201 ENST00000349456.4 0.079096 1 SMEK2 57223 __UNKNOWN__ __UNKNOWN__ 2 55775724 55775724 __UNKNOWN__ 3'UTR SNP A A G rs8080 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:55775724A>G ENST00000272313.5 - 0 3945 SMEK2_ENST00000407823.3_3'UTR|SMEK2_ENST00000345102.5_3'UTR NM_020463.2 NP_065196.1 Q5MIZ7 P4R3B_HUMAN SMEK homolog 2, suppressor of mek1 (Dictyostelium) NA NA positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)|regulation of lipid metabolic process (GO:0019216) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289) kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1) 16 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) AAAATCTCCAAAACAGGGGAA 0.333 NA A||| 1351 0.269768 0.27 0.2622 5008 , , NA 15668 0.3433 NA 0.2008 False NA ,,, NA NA NA 2504 0.2699 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB037808 CCDS1855.1, CCDS46289.1, CCDS62913.1 2p16.1 2008-09-15 ENSG00000138041 57223 29267 protein-coding gene gene with protein product 610352 NA 16085932, 18614045 Standard NM_020463 NM_001122964 NA Approved PSY2, FLFL2, KIAA1387, FLJ31474 uc002rzc.3 Q5MIZ7 OTTHUMG00000129336 ENST00000272313.5:c.*1323T>C chr2.hg19:g.55775724A>G NA Q6P9B0|Q86XB8|Q9BQJ0|Q9BRK2|Q9H913|Q9P2G0 hg19 CCDS1855.1 0.02 4.221548 CCAxAAC COVERED NOVEL SMEK2-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000251482.1 6 6.919829 KEEP 0 0 0 23 698 AA 0.999892 0.999892 0 - 6 60 230 0 0 15.070822 136 60 4834 174 ENST00000272313.5 0.042254 1 SMEK2 57223 __UNKNOWN__ __UNKNOWN__ 2 55776793 55776793 __UNKNOWN__ 3'UTR SNP G G A rs3748945 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:55776793G>A ENST00000272313.5 - 0 2876 SMEK2_ENST00000407823.3_3'UTR|SMEK2_ENST00000345102.5_3'UTR NM_020463.2 NP_065196.1 Q5MIZ7 P4R3B_HUMAN SMEK homolog 2, suppressor of mek1 (Dictyostelium) NA NA positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)|regulation of lipid metabolic process (GO:0019216) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289) kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1) 16 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) CTGAGAAGCTGTCTCCCAGGT 0.453 NA G||| 2971 0.593251 0.5749 0.7305 5008 , , NA 17477 0.4355 NA 0.7266 False NA ,,, NA NA NA 2504 0.546 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB037808 CCDS1855.1, CCDS46289.1, CCDS62913.1 2p16.1 2008-09-15 ENSG00000138041 57223 29267 protein-coding gene gene with protein product 610352 NA 16085932, 18614045 Standard NM_020463 NM_001122964 NA Approved PSY2, FLFL2, KIAA1387, FLJ31474 uc002rzc.3 Q5MIZ7 OTTHUMG00000129336 ENST00000272313.5:c.*254C>T chr2.hg19:g.55776793G>A NA Q6P9B0|Q86XB8|Q9BQJ0|Q9BRK2|Q9H913|Q9P2G0 hg19 CCDS1855.1 0.02 11.592308 GCTxTCT COVERED NOVEL SMEK2-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000251482.1 5 2.246509 KEEP 0 4 124 51 1820 GG 1 1 0 - 15 60 545 0 0 36.865007 241 60 9089 383 ENST00000272313.5 0.058594 1 VRK2 7444 __UNKNOWN__ __UNKNOWN__ 2 58381785 58381785 __UNKNOWN__ Intron SNP T T C rs848294 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:58381785T>C ENST00000417641.2 + 15 1809 VRK2_ENST00000340157.4_Intron|VRK2_ENST00000440705.2_Intron|VRK2_ENST00000435505.2_Intron|VRK2_ENST00000412104.2_Intron Q86Y07 VRK2_HUMAN vaccinia related kinase 2 NA NA cellular response to oxidative stress (GO:0034599)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interleukin-1-mediated signaling pathway (GO:2000659)|regulation of MAPK cascade (GO:0043408)|viral process (GO:0016032) cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674) endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1) 24 tggggtctctttgacccattt 0.318 NA T||| 1304 0.260383 0.0325 0.33 5008 , , NA 15249 0.3056 NA 0.3509 False NA ,,, NA NA NA 2504 0.3793 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK058199 CCDS1859.1, CCDS46291.1, CCDS46292.1 2p16.1 2008-05-15 ENSG00000028116 ENSG00000028116 7444 12719 protein-coding gene gene with protein product 602169 NA Standard NM_006296 NM_001130480 NA Approved uc002rzv.3 Q86Y07 OTTHUMG00000129348 ENST00000417641.2:c.1183-104T>C chr2.hg19:g.58381785T>C NA B4DKL0|D6W5D4|D6W5D6|Q49AK9|Q53EU9|Q53S39|Q53S77|Q53TU1|Q86Y08|Q86Y09|Q86Y10|Q86Y11|Q86Y12|Q8IXI5|Q99987 hg19 CCDS46291.1 0.02 9.388771 TCTxTGA COVERED NOVEL VRK2-004 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000325303.2 0 2.741329 KEEP 0 1 31 20 603 TT 0.999869 0.999869 0 + 11 60 416 0 0 27.565191 224 60 7905 267 ENST00000417641.2 0.046809 1 FANCL 55120 __UNKNOWN__ __UNKNOWN__ 2 58392789 58392789 __UNKNOWN__ Intron SNP T T C rs848288 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:58392789T>C ENST00000402135.3 - 8 743 FANCL_ENST00000540646.1_Intron|FANCL_ENST00000233741.4_Intron|FANCL_ENST00000403676.1_Intron|FANCL_ENST00000403295.3_Intron NM_001114636.1 NP_001108108.1 Q9NW38 FANCL_HUMAN Fanconi anemia, complementation group L NA NA cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|gamete generation (GO:0007276)|protein monoubiquitination (GO:0006513)|regulation of cell proliferation (GO:0042127) cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654) ligase activity (GO:0016874)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) endometrium(1)|large_intestine(1)|lung(4)|ovary(2) 8 CCAACTGTCATTGTTAGATTT 0.308 NA Involved in tolerance or repair of DNA crosslinks Fanconi Anemia T||| 1386 0.276757 0.1104 0.33 5008 , , NA 17126 0.2887 NA 0.3469 False NA ,,, NA NA NA 2504 0.3793 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database Pancytopenia Dysmelia, FA (several complementation groups) AK001197 CCDS1860.1, CCDS46294.1 2p16.1 2014-09-17 2003-10-14 2003-10-15 ENSG00000115392 ENSG00000115392 55120 Zinc fingers, PHD-type, Fanconi anemia, complementation groups 20748 protein-coding gene gene with protein product 608111 PHD finger protein 9 PHF9 NA Standard NM_018062 NM_018062 NA Approved FLJ10335, FAAP43, Pog uc002rzx.4 Q9NW38 OTTHUMG00000129349 ENST00000402135.3:c.706+69A>G chr2.hg19:g.58392789T>C NA Q6GU60 hg19 CCDS46294.1 0.02 8.99801 TCAxTGT COVERED NOVEL FANCL-002 PUTATIVE basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000325254.1 1 2.378112 KEEP 0 2 75 34 1054 TT 0.999999 0.999999 0 - 11 60 411 0 0 27.086535 223 60 8222 309 ENST00000402135.3 0.047009 1 AC007092.1 0 __UNKNOWN__ __UNKNOWN__ 2 58688907 58688907 __UNKNOWN__ lincRNA SNP G G A rs2075171 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:58688907G>A ENST00000452840.1 + 0 127 NA NA NA TTCCTCCTTCGTGCAGCTGGG 0.507 NA G||| 827 0.165136 0.0386 0.183 5008 , , NA 22101 0.2391 NA 0.2644 False NA ,,, NA NA NA 2504 0.1452 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000452840.1: chr2.hg19:g.58688907G>A NA hg19 0.02 6.801567 TTCxTGC COVERED NOVEL AC007092.1-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000327022.1 0 6.921326 KEEP 0 0 0 23 759 GG 0.999892 0.999892 0 + 10 60 366 0 0 24.681009 167 60 5637 231 ENST00000452840.1 0.056497 1 AC007381.2 0 __UNKNOWN__ __UNKNOWN__ 2 60614577 60614577 __UNKNOWN__ lincRNA SNP A A G rs56239160 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:60614577A>G ENST00000453476.1 - 0 70 MIR4432_ENST00000581823.1_RNA NA NA NA GCTCTGCAAGATGCCTTTCTG 0.488 NA A||| 1222 0.24401 0.025 0.2795 5008 , , NA 20522 0.6042 NA 0.0616 False NA ,,, NA NA NA 2504 0.3313 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000453476.1: chr2.hg19:g.60614577A>G NA hg19 0.02 4.373407 AAGxTGC COVERED NOVEL AC007381.2-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000327025.1 1 4.211555 KEEP 0 0 0 14 428 AA 0.995343 0.995343 0 - 5 60 183 0 0 11.370281 132 60 4843 192 ENST00000453476.1 0.036496 1 PAPOLG 64895 __UNKNOWN__ __UNKNOWN__ 2 61009909 61009909 __UNKNOWN__ Intron SNP C C T rs10197672 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:61009909C>T ENST00000238714.3 + 12 1361 PAPOLG_ENST00000483370.1_Intron NM_022894.3 NP_075045.2 Q9BWT3 PAPOG_HUMAN poly(A) polymerase gamma NA NA mRNA polyadenylation (GO:0006378)|RNA polyadenylation (GO:0043631) cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 35 all_hematologic(2;0.0797) LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768) AGTATAGGTACGTGAAATTTT 0.294 NA T||| 2179 0.435104 0.68 0.4164 5008 , , NA 13295 0.1468 NA 0.5368 False NA ,,, NA NA NA 2504 0.3098 NA NA NA GBM(183;1497 2932 21839 46797) NA 0 T 2860,1544 473.7+/-356.8 931,998,273 46 49 48 2.6 0.7 2 dbSNP_119 48 4212,4382 577.3+/-390.5 1032,2148,1117 no intron PAPOLG NM_022894.3 1963,3146,1390 TT,TC,CC 49.0109,35.059,45.5916 61009909 7072,5926 2202 4297 6499 SO:0001627 intron_variant AC012498 CCDS1863.1 2p16.1 2008-02-08 ENSG00000115421 ENSG00000115421 64895 2.7.7.19 14982 protein-coding gene gene with protein product NA Standard NM_022894 NM_022894 NA Approved FLJ12972 uc002sai.3 Q9BWT3 OTTHUMG00000129419 ENST00000238714.3:c.1112+4C>T chr2.hg19:g.61009909C>T NA B2RBH4|Q59G05|Q969N1|Q9H8L2|Q9HAD0 hg19 CCDS1863.1 0.02 4.58061 GTAxGTG COVERED NOVEL PAPOLG-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251577.3 1 11.434589 KEEP 0 0 0 38 1237 CC 1 0.999973 0 + 5 60 184 0 0 12.124165 97 60 3508 200 ENST00000238714.3 0.04902 0.999973 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 61026177 61026177 __UNKNOWN__ IGR SNP A A G rs2288712 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:61026177A>G NA NA PAPOLG (79 upstream) : RN7SL632P (32622 downstream) NA NA NA CAAATAGTCTATTTGAGCAAA 0.318 NA A||| 520 0.103834 0.1074 0.121 5008 , , NA 18876 0.1052 NA 0.1163 False NA ,,, NA NA NA 2504 0.0726 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.61026177A>G NA hg19 0.02 6.309504 TCTxTTT COVERED NOVEL 0 3 8.721939 KEEP 0 0 0 29 867 AA 0.999997 0.999997 0 11 60 414 0 0 28.155781 189 60 6808 269 0.055 1 PUS10 150962 __UNKNOWN__ __UNKNOWN__ 2 61236957 61236957 __UNKNOWN__ Intron SNP T T C rs80277181 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:61236957T>C ENST00000316752.6 - 3 388 PUS10_ENST00000407787.1_Intron NM_144709.2 NP_653310.2 Q3MIT2 PUS10_HUMAN pseudouridylate synthase 10 NA NA pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033) pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723) breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2) 22 LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113) TTACTGACTGTAAAGGGAAAA 0.274 NA T||| 32 0.00638978 0.0 0.0 5008 , , NA 17819 0.0308 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK056874 CCDS1865.1 2p16.1 2008-02-05 2008-01-09 2008-01-09 ENSG00000162927 ENSG00000162927 150962 26505 protein-coding gene gene with protein product 612787 coiled-coil domain containing 139 CCDC139 NA 17900615 Standard NM_144709 NM_144709 NA Approved FLJ32312 uc002sao.3 Q3MIT2 OTTHUMG00000129423 ENST00000316752.6:c.127-807A>G chr2.hg19:g.61236957T>C NA Q5JPJ5|Q96MI8 hg19 CCDS1865.1 0.02 1.918022 CTGxAAA COVERED NOVEL PUS10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251582.2 0 3.00636 KEEP 0 0 0 10 272 TT 0.992708 0.986456 0 - 5 60 172 0 0 11.933866 60 60 2135 79 ENST00000316752.6 0.076923 0.993703 KIAA1841 84542 __UNKNOWN__ __UNKNOWN__ 2 61304002 61304002 __UNKNOWN__ Intron SNP A A G rs1729657 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:61304002A>G ENST00000402291.1 + 6 672 KIAA1841_ENST00000356719.2_Intron|KIAA1841_ENST00000453873.1_Intron|KIAA1841_ENST00000482513.1_Intron|KIAA1841_ENST00000295031.5_Intron NM_001129993.1 NP_001123465.1 Q6NSI8 K1841_HUMAN KIAA1841 NA NA breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 25 Epithelial(17;0.193) AGTATTCTTGACTCCTTTTCT 0.313 NA G||| 3091 0.617212 0.9576 0.6455 5008 , , NA 16816 0.505 NA 0.5765 False NA ,,, NA NA NA 2504 0.2945 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC070104 CCDS1867.1, CCDS46296.1 2p15 2010-06-22 ENSG00000162929 ENSG00000162929 84542 29387 protein-coding gene gene with protein product NA 11347906 Standard NM_032506 NM_032506 NA Approved uc002saw.4 Q6NSI8 OTTHUMG00000129421 ENST00000402291.1:c.432-53A>G chr2.hg19:g.61304002A>G NA Q49AF0|Q6ZND0|Q96JI6 hg19 CCDS46296.1 0.02 2.061596 TTGxCTC COVERED NOVEL KIAA1841-003 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000325477.1 0 2.708501 KEEP 0 0 0 9 296 AA 0.99254 0.980573 0 + 5 60 182 0 0 13.112895 55 60 1977 71 ENST00000402291.1 0.083333 0.987943 KIAA1841 84542 __UNKNOWN__ __UNKNOWN__ 2 61304271 61304271 __UNKNOWN__ Silent SNP A A G rs1729659 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:61304271A>G ENST00000402291.1 + 6 889 c.648A>G c.(646-648)aaA>aaG p.K216K KIAA1841_ENST00000356719.2_Silent_p.K216K|KIAA1841_ENST00000453873.1_Silent_p.K216K|KIAA1841_ENST00000482513.1_3'UTR|KIAA1841_ENST00000295031.5_Silent_p.K216K NM_001129993.1 NP_001123465.1 Q6NSI8 K1841_HUMAN KIAA1841 216 NA p.K216K(1) breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 25 Epithelial(17;0.193) AGGAGAATAAAGATTGTGAGA 0.383 NA A||| 1732 0.345847 0.3911 0.4294 5008 , , NA 18960 0.4167 NA 0.3191 False NA ,,, NA NA NA 2504 0.18 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) A , 1673,2733 500.0+/-364.6 326,1021,856 77 83 81 648,648 1.9 1 2 dbSNP_89 81 2868,5732 446.7+/-361.3 501,1866,1933 no coding-synonymous,coding-synonymous KIAA1841 NM_001129993.1,NM_032506.2 , 827,2887,2789 GG,GA,AA 33.3488,37.9709,34.9147 , 216/719,216/708 61304271 4541,8465 2203 4300 6503 SO:0001819 synonymous_variant BC070104 CCDS1867.1, CCDS46296.1 2p15 2010-06-22 ENSG00000162929 ENSG00000162929 84542 29387 protein-coding gene gene with protein product NA 11347906 Standard NM_032506 NM_032506 NA Approved uc002saw.4 Q6NSI8 OTTHUMG00000129421 ENST00000402291.1:c.648A>G chr2.hg19:g.61304271A>G NA Q49AF0|Q6ZND0|Q96JI6 hg19 CCDS46296.1 0.02 8.875065 TAAxGAT COVERED NOVEL KIAA1841-003 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000325477.1 1 9.024185 KEEP 0 0 0 30 907 AA 0.999997 0.999997 0 + 16 60 580 0 0 39.905663 231 60 8624 320 ENST00000402291.1 0.064777 1 KIAA1841 84542 __UNKNOWN__ __UNKNOWN__ 2 61349446 61349446 __UNKNOWN__ 3'UTR SNP G G A rs1177284 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:61349446G>A ENST00000402291.1 + 0 2547 KIAA1841_ENST00000453873.1_3'UTR|KIAA1841_ENST00000295031.5_Intron NM_001129993.1 NP_001123465.1 Q6NSI8 K1841_HUMAN KIAA1841 NA NA breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 25 Epithelial(17;0.193) TAAAAGAAATGCATAGTTAGG 0.249 NA A||| 3397 0.678315 0.9856 0.696 5008 , , NA 17833 0.4643 NA 0.7396 False NA ,,, NA NA NA 2504 0.408 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC070104 CCDS1867.1, CCDS46296.1 2p15 2010-06-22 ENSG00000162929 ENSG00000162929 84542 29387 protein-coding gene gene with protein product NA 11347906 Standard NM_032506 NM_032506 NA Approved uc002saw.4 Q6NSI8 OTTHUMG00000129421 ENST00000402291.1:c.*149G>A chr2.hg19:g.61349446G>A NA Q49AF0|Q6ZND0|Q96JI6 hg19 CCDS46296.1 0.02 12.59007 AATxCAT COVERED NOVEL KIAA1841-003 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000325477.1 0 3.646557 KEEP 0 1 31 23 803 GG 0.999909 0.999909 0 + 23 60 782 0 0 54.110785 278 60 10256 334 ENST00000402291.1 0.076412 1 C2orf74 339804 __UNKNOWN__ __UNKNOWN__ 2 61389737 61389737 __UNKNOWN__ Missense_Mutation SNP T T G rs1729674 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:61389737T>G ENST00000432605.1 + 1 109 c.109T>G c.(109-111)Tat>Gat p.Y37D C2orf74_ENST00000426997.1_Intron NM_001143959.1 NP_001137431.1 A8MZ97 CB074_HUMAN chromosome 2 open reading frame 74 37 NA integral component of membrane (GO:0016021) endometrium(1) 1 GGTTTTTTTATATAAATGGTA 0.318 NA T||| 1972 0.39377 0.4455 0.389 5008 , , NA 20712 0.3968 NA 0.4533 False NA ,,, NA NA NA 2504 0.2628 NA NA NA NA 0 218 173 187 NA NA 2 NA 61389737 692 1591 2283 SO:0001583 missense 2p15 2012-08-06 ENSG00000237651 ENSG00000237651 339804 34439 protein-coding gene gene with protein product NA Standard NM_001143959 NM_001143959 NA Approved LOC339804 uc010ypm.1 A8MZ97 ENST00000432605.1:c.109T>G chr2.hg19:g.61389737T>G ENSP00000402915:p.Tyr37Asp NA C9JP62 hg19 0.02 6.058822 TTAxATA COVERED 938 0.42948717948717946 210 0.4268292682926829 158 0.43646408839779005 223 0.38986013986013984 347 0.4577836411609499 T 12.42 1.933117 0.34096 . . ENSG00000237651 ENST00000432605 . . . 4.9 2.31 0.28768 . . . . . T 0.00012 0.0000 L 0.27053 0.805 0.58432 P 1.0000000000287557E-6 D 0.54207 0.965 P 0.54312 0.748 T 0.45190 -0.9278 7 0.87932 D 0 . 1.6236 0.02719 0.1687:0.0969:0.1747:0.5597 rs1729674;rs52790424;rs56837693;rs1729674 37 A8MZ97 CB074_HUMAN D 37 . ENSP00000402915:Y37D Y + 1 0 C2orf74 61243241 0.829000 0.29322 0.939000 0.37840 0.582000 0.36321 1.552000 0.36244 0.831000 0.34780 0.254000 0.18369 TAT NOVEL C2orf74-202 KNOWN basic|appris_principal protein_coding NA protein_coding 2 7.522508 KEEP 0 0 0 25 788 TT 0.999931 0.999931 0 + 6 60 214 0 0 12.802256 177 60 6352 230 ENST00000432605.1 0.032787 1 AHSA2 130872 __UNKNOWN__ __UNKNOWN__ 2 61413723 61413723 __UNKNOWN__ Intron SNP A A G rs1809028 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:61413723A>G ENST00000394457.3 + 6 1987 AHSA2_ENST00000357022.2_Intron|AHSA2_ENST00000410073.1_Intron|AHSA2_ENST00000489653.1_Intron Q719I0 AHSA2_HUMAN AHA1, activator of heat shock 90kDa protein ATPase homolog 2 (yeast) NA NA response to stress (GO:0006950) ATPase activator activity (GO:0001671) breast(1)|lung(3)|prostate(1) 5 Epithelial(17;0.0994) TTCATAATGCAGTAATAAGGT 0.363 NA G||| 3984 0.795527 0.9871 0.7795 5008 , , NA 19063 0.6786 NA 0.8012 False NA ,,, NA NA NA 2504 0.6626 NA NA NA NA 0 G 4173,233 1978,217,8 70 67 68 2.6 0.4 2 dbSNP_92 68 6676,1924 2604,1468,228 no intron AHSA2 NM_152392.3 4582,1685,236 GG,GA,AA 22.3721,5.2882,16.5847 61413723 10849,2157 2203 4300 6503 SO:0001627 intron_variant AK092817 CCDS1868.1 2p14 2008-02-05 ENSG00000173209 ENSG00000173209 130872 20437 protein-coding gene gene with protein product NA 12504007 Standard NM_152392 NM_152392 NA Approved DKFZp564C236, Hch1 uc002sbc.2 Q719I0 OTTHUMG00000129437 ENST00000394457.3:c.245-29A>G chr2.hg19:g.61413723A>G NA B3KS51|D6W5E0|Q8NDU5 hg19 CCDS1868.1 0.02 7.223177 TGCxGTA COVERED NOVEL AHSA2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251598.4 0 7.656395 KEEP 0 1 33 37 1160 AA 1 1 0 + 14 60 455 0 0 29.888147 195 60 7177 280 ENST00000394457.3 0.066986 1 AHSA2 130872 __UNKNOWN__ __UNKNOWN__ 2 61414470 61414470 __UNKNOWN__ 3'UTR SNP C C G rs1059541 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:61414470C>G ENST00000394457.3 + 0 2706 AHSA2_ENST00000357022.2_3'UTR Q719I0 AHSA2_HUMAN AHA1, activator of heat shock 90kDa protein ATPase homolog 2 (yeast) NA NA response to stress (GO:0006950) ATPase activator activity (GO:0001671) breast(1)|lung(3)|prostate(1) 5 Epithelial(17;0.0994) TGTGGGGACACATTAGTTCTG 0.478 NA C||| 991 0.197883 0.0129 0.2363 5008 , , NA 15991 0.2877 NA 0.166 False NA ,,, NA NA NA 2504 0.3609 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK092817 CCDS1868.1 2p14 2008-02-05 ENSG00000173209 ENSG00000173209 130872 20437 protein-coding gene gene with protein product NA 12504007 Standard NM_152392 NM_152392 NA Approved DKFZp564C236, Hch1 uc002sbc.2 Q719I0 OTTHUMG00000129437 ENST00000394457.3:c.*549C>G chr2.hg19:g.61414470C>G NA B3KS51|D6W5E0|Q8NDU5 hg19 CCDS1868.1 0.02 6.866059 ACAxATT COVERED NOVEL AHSA2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251598.4 4 9.327849 KEEP 0 0 0 31 1056 CC 0.999997 0.999997 0 + 7 60 271 0 0 17.557911 175 60 6594 239 ENST00000394457.3 0.038462 1 AHSA2 130872 __UNKNOWN__ __UNKNOWN__ 2 61417617 61417617 __UNKNOWN__ 3'UTR SNP A A G rs777591 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:61417617A>G ENST00000394457.3 + 0 5853 USP34_ENST00000398571.2_Intron Q719I0 AHSA2_HUMAN AHA1, activator of heat shock 90kDa protein ATPase homolog 2 (yeast) NA NA response to stress (GO:0006950) ATPase activator activity (GO:0001671) breast(1)|lung(3)|prostate(1) 5 Epithelial(17;0.0994) TTAACTAATTAGAAATGACAC 0.328 NA G||| 3150 0.628994 0.5651 0.6527 5008 , , NA 20438 0.6766 NA 0.6521 False NA ,,, NA NA NA 2504 0.6258 NA NA NA NA 0 G 2153,1539 649,855,342 60 59 59 -11.1 0 2 dbSNP_86 59 5159,3013 1627,1905,554 no intron USP34 NM_014709.3 2276,2760,896 GG,GA,AA 36.8698,41.6847,38.3682 61417617 7312,4552 1846 4086 5932 SO:0001624 3_prime_UTR_variant AK092817 CCDS1868.1 2p14 2008-02-05 ENSG00000173209 ENSG00000173209 130872 20437 protein-coding gene gene with protein product NA 12504007 Standard NM_152392 NM_152392 NA Approved DKFZp564C236, Hch1 uc002sbc.2 Q719I0 OTTHUMG00000129437 ENST00000394457.3:c.*3696A>G chr2.hg19:g.61417617A>G NA B3KS51|D6W5E0|Q8NDU5 hg19 CCDS1868.1 0.02 7.435492 ATTxGAA COVERED NOVEL AHSA2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251598.4 1 4.648291 KEEP 0 1 36 28 864 AA 0.999997 0.999997 0 + 17 60 654 0 0 49.332562 157 60 5797 239 ENST00000394457.3 0.097701 1 USP34 9736 __UNKNOWN__ __UNKNOWN__ 2 61577435 61577435 __UNKNOWN__ Silent SNP T T C rs2166720 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:61577435T>C ENST00000398571.2 - 12 1543 c.1467A>G c.(1465-1467)gcA>gcG p.A489A NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 489 NA positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055) cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843) autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) TTAATAAAGATGCAAAAGAAC 0.323 NA T||| 1014 0.202476 0.0182 0.2421 5008 , , NA 18110 0.2907 NA 0.1779 False NA ,,, NA NA NA 2504 0.3579 NA NA NA NA 0 T 160,3472 4,152,1660 84 79 81 1467 4.4 1 2 dbSNP_96 81 1250,6902 99,1052,2925 no coding-synonymous USP34 NM_014709.3 103,1204,4585 CC,CT,TT 15.3337,4.4053,11.9654 489/3547 61577435 1410,10374 1816 4076 5892 SO:0001819 synonymous_variant AB011142 CCDS42686.1 2p16.1-p15 2005-08-08 2005-08-08 ENSG00000115464 ENSG00000115464 9736 Ubiquitin-specific peptidases 20066 protein-coding gene gene with protein product 615295 ubiquitin specific protease 34 NA 12838346 Standard NM_014709 NA Approved KIAA0570, KIAA0729 uc002sbe.3 Q70CQ2 OTTHUMG00000152265 ENST00000398571.2:c.1467A>G chr2.hg19:g.61577435T>C NA A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1 hg19 CCDS42686.1 0.02 2.071553 AGAxGCA COVERED NOVEL USP34-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000325650.4 0 7.22118 KEEP 0 0 0 24 749 TT 0.999909 0.999804 0 - 6 60 223 0 0 15.503506 87 60 3241 149 ENST00000398571.2 0.064516 0.999895 XPO1 7514 __UNKNOWN__ __UNKNOWN__ 2 61729258 61729258 __UNKNOWN__ Intron SNP A A G rs2305155 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:61729258A>G ENST00000401558.2 - 6 1091 XPO1_ENST00000404992.2_Intron|XPO1_ENST00000406957.1_Intron NM_003400.3 NP_003391.1 O14980 XPO1_HUMAN exportin 1 NA NA gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein export from nucleus (GO:0006611)|protein localization to nucleus (GO:0034504)|regulation of centrosome duplication (GO:0010824)|regulation of protein catabolic process (GO:0042176)|regulation of protein export from nucleus (GO:0046825)|response to drug (GO:0042493)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|RNA metabolic process (GO:0016070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032) annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529) nucleocytoplasmic transporter activity (GO:0005487)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|transporter activity (GO:0005215) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 39 LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226) AAATGATTACAGCTCTACTGT 0.333 NA Mis CLL A||| 3114 0.621805 0.6384 0.5403 5008 , , NA 17834 0.6617 NA 0.6312 False NA ,,, NA NA NA 2504 0.6063 NA NA NA -' Dom yes 2 2p15 7514 exportin 1 (CRM1 homolog, yeast) L 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Y08614 CCDS33205.1 2p15 2014-02-19 2014-02-19 ENSG00000082898 ENSG00000082898 7514 Exportins 12825 protein-coding gene gene with protein product chromosome region maintenance 1 homolog (yeast) 602559 exportin 1 (CRM1, yeast, homolog), exportin 1 (CRM1 homolog, yeast) NA 9205132, 9368044 Standard NM_003400 XM_005264544 NA Approved CRM1, emb uc002sbj.3 O14980 OTTHUMG00000152316 ENST00000401558.2:c.364-83T>C chr2.hg19:g.61729258A>G NA A6NL14|A8K1K5|D6W5E2|Q63HP8|Q68CP3|Q99433 hg19 CCDS33205.1 0.02 1.919031 TACxGCT COVERED NOVEL XPO1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000325872.3 0 3.310178 KEEP 0 0 0 11 352 AA 0.993072 0.993029 0 - 5 60 181 0 0 11.890027 94 60 3545 125 ENST00000401558.2 0.050505 0.999956 XPO1 7514 __UNKNOWN__ __UNKNOWN__ 2 61729268 61729268 __UNKNOWN__ Intron SNP T T C rs2305156 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:61729268T>C ENST00000401558.2 - 6 1091 XPO1_ENST00000404992.2_Intron|XPO1_ENST00000406957.1_Intron NM_003400.3 NP_003391.1 O14980 XPO1_HUMAN exportin 1 NA NA gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein export from nucleus (GO:0006611)|protein localization to nucleus (GO:0034504)|regulation of centrosome duplication (GO:0010824)|regulation of protein catabolic process (GO:0042176)|regulation of protein export from nucleus (GO:0046825)|response to drug (GO:0042493)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|RNA metabolic process (GO:0016070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032) annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529) nucleocytoplasmic transporter activity (GO:0005487)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|transporter activity (GO:0005215) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 39 LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226) AGCTCTACTGTAAATGACTGA 0.333 NA Mis CLL C||| 3210 0.640974 0.7095 0.5447 5008 , , NA 17941 0.6617 NA 0.6312 False NA ,,, NA NA NA 2504 0.6053 NA NA NA -' Dom yes 2 2p15 7514 exportin 1 (CRM1 homolog, yeast) L 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Y08614 CCDS33205.1 2p15 2014-02-19 2014-02-19 ENSG00000082898 ENSG00000082898 7514 Exportins 12825 protein-coding gene gene with protein product chromosome region maintenance 1 homolog (yeast) 602559 exportin 1 (CRM1, yeast, homolog), exportin 1 (CRM1 homolog, yeast) NA 9205132, 9368044 Standard NM_003400 XM_005264544 NA Approved CRM1, emb uc002sbj.3 O14980 OTTHUMG00000152316 ENST00000401558.2:c.364-93A>G chr2.hg19:g.61729268T>C NA A6NL14|A8K1K5|D6W5E2|Q63HP8|Q68CP3|Q99433 hg19 CCDS33205.1 0.02 2.14522 CTGxAAA COVERED NOVEL XPO1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000325872.3 0 3.610033 KEEP 0 0 0 12 359 TT 0.993634 0.993564 0 - 5 60 192 0 0 13.057483 91 60 3226 121 ENST00000401558.2 0.052083 0.99993 XPO1 7514 __UNKNOWN__ __UNKNOWN__ 2 61749716 61749716 __UNKNOWN__ Intron SNP C C T rs3732170 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:61749716C>T ENST00000401558.2 - 4 1029 XPO1_ENST00000404992.2_Intron|XPO1_ENST00000406957.1_Intron NM_003400.3 NP_003391.1 O14980 XPO1_HUMAN exportin 1 NA NA gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein export from nucleus (GO:0006611)|protein localization to nucleus (GO:0034504)|regulation of centrosome duplication (GO:0010824)|regulation of protein catabolic process (GO:0042176)|regulation of protein export from nucleus (GO:0046825)|response to drug (GO:0042493)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|RNA metabolic process (GO:0016070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032) annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529) nucleocytoplasmic transporter activity (GO:0005487)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|transporter activity (GO:0005215) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 39 LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226) AAAAACAAAACTCTGAATTTA 0.328 NA Mis CLL T||| 3208 0.640575 0.7095 0.5447 5008 , , NA 17645 0.6587 NA 0.6322 False NA ,,, NA NA NA 2504 0.6053 NA NA NA -' Dom yes 2 2p15 7514 exportin 1 (CRM1 homolog, yeast) L 0 T 3040,1364 430.6+/-342.6 1055,930,217 51 51 51 -1.2 0 2 dbSNP_107 51 5278,3318 473.4+/-368.6 1632,2014,652 no intron XPO1 NM_003400.3 2687,2944,869 TT,TC,CC 38.5993,30.9718,36.0154 61749716 8318,4682 2202 4298 6500 SO:0001627 intron_variant Y08614 CCDS33205.1 2p15 2014-02-19 2014-02-19 ENSG00000082898 ENSG00000082898 7514 Exportins 12825 protein-coding gene gene with protein product chromosome region maintenance 1 homolog (yeast) 602559 exportin 1 (CRM1, yeast, homolog), exportin 1 (CRM1 homolog, yeast) NA 9205132, 9368044 Standard NM_003400 XM_005264544 NA Approved CRM1, emb uc002sbj.3 O14980 OTTHUMG00000152316 ENST00000401558.2:c.301+29G>A chr2.hg19:g.61749716C>T NA A6NL14|A8K1K5|D6W5E2|Q63HP8|Q68CP3|Q99433 hg19 CCDS33205.1 0.02 4.399592 AAAxTCT COVERED NOVEL XPO1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000325872.3 0 2.713525 KEEP 0 3 94 42 1528 CC 1 1 0 - 9 60 326 0 0 22.569175 125 60 4781 231 ENST00000401558.2 0.067164 1 CCT4 10575 __UNKNOWN__ __UNKNOWN__ 2 62112081 62112081 __UNKNOWN__ Intron SNP C C T rs78484945 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:62112081C>T ENST00000394440.3 - 2 477 CCT4_ENST00000544185.1_Intron|AC107081.5_ENST00000425779.1_RNA|CCT4_ENST00000544079.1_Intron|CCT4_ENST00000538252.1_Intron NM_006430.3 NP_006421.2 P50991 TCPD_HUMAN chaperonin containing TCP1, subunit 4 (delta) NA NA 'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457) cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199) ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082) breast(1)|large_intestine(2)|lung(6)|ovary(2) 11 Lung NSC(7;0.035)|all_lung(7;0.0691) LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221) AACAGCACATCTAACCCTTCA 0.463 NA C||| 134 0.0267572 0.0 0.0 5008 , , NA 17536 0.128 NA 0.0 False NA ,,, NA NA NA 2504 0.0051 NA NA NA NA 0 C 2,1382 0,2,690 224 191 201 2.3 0 2 dbSNP_131 201 0,3182 0,0,1591 no intron CCT4 NM_006430.2 0,2,2281 TT,TC,CC 0.0,0.1445,0.0438 62112081 2,4564 692 1591 2283 SO:0001627 intron_variant CCDS33206.1, CCDS58711.1 2p15 2011-09-02 ENSG00000115484 ENSG00000115484 10575 Heat Shock Proteins / Chaperonins 1617 protein-coding gene gene with protein product 605142 NA 9819444 Standard NM_001256721 NA Approved Cctd uc002sbo.4 P50991 OTTHUMG00000152166 ENST00000394440.3:c.180+73G>A chr2.hg19:g.62112081C>T NA B2R6I3|B7Z8B1|F5H5W3|O14870|Q53QP9|Q96C51 hg19 CCDS33206.1 0.02 3.63708 CATxTAA COVERED NOVEL CCT4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000325548.2 4 12.339091 KEEP 0 0 0 41 1404 CC 1 1 0 - 7 60 247 0 0 16.207004 123 60 4579 195 ENST00000394440.3 0.053846 1 TMEM17 200728 __UNKNOWN__ __UNKNOWN__ 2 62733253 62733253 __UNKNOWN__ Silent SNP C C T rs11676567 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:62733253C>T ENST00000335390.5 - 1 223 c.12G>A c.(10-12)ccG>ccA p.P4P NM_198276.2 NP_938017.2 Q86X19 TMM17_HUMAN transmembrane protein 17 4 NA cilium assembly (GO:0042384)|smoothened signaling pathway (GO:0007224) ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3) 9 Lung NSC(7;0.0274)|all_lung(7;0.0568) LUSC - Lung squamous cell carcinoma(7;1.31e-05)|Epithelial(17;0.169) GCACCGGATCCGGCAGCTCCA 0.672 NA C||| 2167 0.432708 0.4433 0.4568 5008 , , NA 13268 0.5248 NA 0.3569 False NA ,,, NA NA NA 2504 0.3845 NA NA NA NA 0 C 1912,2494 431,1050,722 23 25 25 12 -1.9 1 2 dbSNP_120 25 3217,5383 619,1979,1702 no coding-synonymous TMEM17 NM_198276.2 1050,3029,2424 TT,TC,CC 37.407,43.3954,39.4356 4/199 62733253 5129,7877 2203 4300 6503 SO:0001819 synonymous_variant CCDS1871.1 2p15 2008-02-05 ENSG00000186889 ENSG00000186889 200728 26623 protein-coding gene gene with protein product 614950 NA 12477932 Standard NM_198276 NM_198276 NA Approved FLJ34583 uc002sbt.2 Q86X19 OTTHUMG00000129455 ENST00000335390.5:c.12G>A chr2.hg19:g.62733253C>T NA Q53QP7|Q53R98 hg19 CCDS1871.1 0.02 10.629175 ATCxGGC COVERED NOVEL TMEM17-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251618.3 2 49.357851 KEEP 0 3 94 197 6640 CC 1 1 0 - 8 60 301 0 0 18.251544 264 60 8925 590 ENST00000335390.5 0.029412 1 WDPCP 51057 __UNKNOWN__ __UNKNOWN__ 2 63486429 63486429 __UNKNOWN__ Intron SNP C C T rs992214 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:63486429C>T ENST00000272321.7 - 14 2443 WDPCP_ENST00000409199.1_Intron|WDPCP_ENST00000398544.3_Intron|WDPCP_ENST00000409120.1_Intron|WDPCP_ENST00000409562.3_Intron NM_015910.5 NP_056994.3 O95876 FRITZ_HUMAN WD repeat containing planar cell polarity effector NA NA auditory receptor cell morphogenesis (GO:0002093)|camera-type eye development (GO:0043010)|cardiovascular system development (GO:0072358)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|digestive system development (GO:0055123)|embryonic digit morphogenesis (GO:0042733)|establishment of protein localization (GO:0045184)|glomerular visceral epithelial cell migration (GO:0090521)|kidney development (GO:0001822)|palate development (GO:0060021)|regulation of embryonic cell shape (GO:0016476)|regulation of establishment of cell polarity (GO:2000114)|regulation of fibroblast migration (GO:0010762)|regulation of focal adhesion assembly (GO:0051893)|regulation of protein localization (GO:0032880)|regulation of ruffle assembly (GO:1900027)|respiratory system development (GO:0060541)|septin cytoskeleton organization (GO:0032185)|smoothened signaling pathway (GO:0007224) axonemal basal plate (GO:0097541)|axoneme (GO:0005930)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1) 35 TTAAAAATAGCGTTAATTCTT 0.328 NA C||| 3825 0.763778 0.9592 0.6556 5008 , , NA 16620 0.8423 NA 0.5109 False NA ,,, NA NA NA 2504 0.7556 NA NA NA NA 0 C 3215,413 1425,365,24 102 101 101 3 1 2 dbSNP_86 101 4124,4030 1050,2024,1003 no intron WDPCP NM_015910.5 2475,2389,1027 TT,TC,CC 49.4236,11.3837,37.7101 63486429 7339,4443 1814 4077 5891 SO:0001627 intron_variant CCDS42688.1, CCDS46301.1 2p15 2014-04-24 2011-02-01 2011-02-01 ENSG00000143951 ENSG00000143951 51057 28027 protein-coding gene gene with protein product 613580 chromosome 2 open reading frame 86 C2orf86 NA 15654087, 20671153 Standard NM_015910 NM_015910 NA Approved hFrtz, fritz, BBS15 uc002sch.3 O95876 OTTHUMG00000152566 ENST00000272321.7:c.1915+12G>A chr2.hg19:g.63486429C>T NA Q53RW4|Q7Z2Z3 hg19 CCDS42688.1 0.02 3.430279 TAGxGTT COVERED NOVEL WDPCP-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000326820.1 0 7.524142 KEEP 0 0 0 25 864 CC 0.999931 0.999931 0 - 6 60 182 0 0 10.533176 125 60 4476 192 ENST00000272321.7 0.045802 1 WDPCP 51057 __UNKNOWN__ __UNKNOWN__ 2 63798333 63798333 __UNKNOWN__ Intron SNP C C T rs4671068 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:63798333C>T ENST00000272321.7 - 1 603 WDPCP_ENST00000409835.1_Intron|WDPCP_ENST00000409562.3_Intron NM_015910.5 NP_056994.3 O95876 FRITZ_HUMAN WD repeat containing planar cell polarity effector NA NA auditory receptor cell morphogenesis (GO:0002093)|camera-type eye development (GO:0043010)|cardiovascular system development (GO:0072358)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|digestive system development (GO:0055123)|embryonic digit morphogenesis (GO:0042733)|establishment of protein localization (GO:0045184)|glomerular visceral epithelial cell migration (GO:0090521)|kidney development (GO:0001822)|palate development (GO:0060021)|regulation of embryonic cell shape (GO:0016476)|regulation of establishment of cell polarity (GO:2000114)|regulation of fibroblast migration (GO:0010762)|regulation of focal adhesion assembly (GO:0051893)|regulation of protein localization (GO:0032880)|regulation of ruffle assembly (GO:1900027)|respiratory system development (GO:0060541)|septin cytoskeleton organization (GO:0032185)|smoothened signaling pathway (GO:0007224) axonemal basal plate (GO:0097541)|axoneme (GO:0005930)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1) 35 gcataagccaccgcgcctggt 0.468 NA C||| 4286 0.855831 0.8979 0.8516 5008 , , NA 17420 0.9841 NA 0.7058 False NA ,,, NA NA NA 2504 0.8241 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS42688.1, CCDS46301.1 2p15 2014-04-24 2011-02-01 2011-02-01 ENSG00000143951 ENSG00000143951 51057 28027 protein-coding gene gene with protein product 613580 chromosome 2 open reading frame 86 C2orf86 NA 15654087, 20671153 Standard NM_015910 NM_015910 NA Approved hFrtz, fritz, BBS15 uc002sch.3 O95876 OTTHUMG00000152566 ENST00000272321.7:c.75+16997G>A chr2.hg19:g.63798333C>T NA Q53RW4|Q7Z2Z3 hg19 CCDS42688.1 0.02 2.040838 CCAxCGC COVERED NOVEL WDPCP-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000326820.1 0 4.815192 KEEP 0 0 0 16 541 CC 0.997832 0.961684 0 - 5 60 177 0 0 12.98295 46 60 1640 75 ENST00000272321.7 0.098039 0.963774 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 63849491 63849491 __UNKNOWN__ IGR SNP T T C rs262496 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:63849491T>C NA NA MDH1 (15160 upstream) : RPS4XP5 (20097 downstream) NA NA NA AAACCCTTCATAGTCTTGGTC 0.512 NA T||| 1851 0.369609 0.1513 0.3905 5008 , , NA 17164 0.7103 NA 0.2545 False NA ,,, NA NA NA 2504 0.4172 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.63849491T>C NA hg19 0.02 14.908641 TCAxAGT COVERED NOVEL 0 2 9.325236 KEEP 0 0 0 31 956 TT 0.999997 0.999997 0 20 60 767 0 0 53.73208 301 60 10854 428 0.062305 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 63933975 63933975 __UNKNOWN__ IGR SNP C C T rs147511109 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:63933975C>T NA NA AC096664.3 (11306 upstream) : UGP2 (134098 downstream) NA NA NA tggtctcgatctcctgacctc 0.532 NA -||| 639 0.127596 0.0976 0.1369 5008 , , NA 14135 0.0218 NA 0.2396 False NA ,,, NA NA NA 2504 0.1554 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.63933975C>T NA hg19 0.02 -0.035091 GATxTCC UNCOVERED NOVEL 0 4 2.708439 KEEP 7 0 0 9 300 CC 0 0 0 4 60 139 0 0 15.80785 0 0 0 17 1 0.019982 VPS54 51542 __UNKNOWN__ __UNKNOWN__ 2 64120434 64120434 __UNKNOWN__ 3'UTR SNP C C A rs188413774 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:64120434C>A ENST00000354504.3 - 0 3194 VPS54_ENST00000272322.4_3'UTR|VPS54_ENST00000409558.4_3'UTR Q9P1Q0 VPS54_HUMAN vacuolar protein sorting 54 homolog (S. cerevisiae) NA NA growth (GO:0040007)|homeostasis of number of cells within a tissue (GO:0048873)|musculoskeletal movement (GO:0050881)|neurofilament cytoskeleton organization (GO:0060052)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147) GARP complex (GO:0000938) endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 27 TTGATACTTTCCTTTTTCCCT 0.428 NA C||| 5 0.000998403 0.0 0.0 5008 , , NA 18792 0.004 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF102177 CCDS33208.1, CCDS46302.1 2p15-p14 2014-06-13 2006-12-19 ENSG00000143952 ENSG00000143952 51542 18652 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 164 614633 vacuolar protein sorting 54 (yeast) NA 12039048 Standard NM_016516 NM_016516 NA Approved HCC8, PPP1R164 uc002scq.3 Q9P1Q0 OTTHUMG00000152627 ENST00000354504.3:c.*130G>T chr2.hg19:g.64120434C>A NA Q5VIR5|Q86YF7|Q8N6G3|Q9NPV0|Q9NT07|Q9NUJ0 hg19 0.02 19.514257 TTTxCTT COVERED NOVEL VPS54-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000327064.1 2 37.320367 KEEP 0 0 0 124 4341 CC 1 1 0 - 18 60 609 0 0 35.56047 526 60 19594 806 ENST00000354504.3 0.033088 1 AC007386.2 0 __UNKNOWN__ __UNKNOWN__ 2 65132050 65132050 __UNKNOWN__ lincRNA SNP G G A rs78893802 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:65132050G>A ENST00000449259.1 - 0 147 NR_036586.1 NA NA NA ATGACAACAAGCCACAGACTT 0.483 NA G||| 863 0.172324 0.0287 0.2046 5008 , , NA 19979 0.3909 NA 0.168 False NA ,,, NA NA NA 2504 0.1227 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000449259.1: chr2.hg19:g.65132050G>A NA hg19 0.02 5.674414 CAAxCCA COVERED NOVEL AC007386.2-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000327471.1 0 9.029731 KEEP 0 0 0 30 1089 GG 0.999997 0.999997 0 - 7 60 243 0 0 14.973974 163 60 6190 234 ENST00000449259.1 0.041176 1 ACTR2 10097 __UNKNOWN__ __UNKNOWN__ 2 65496058 65496058 __UNKNOWN__ 3'UTR SNP A A G rs17038564 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:65496058A>G ENST00000260641.5 + 0 1532 ACTR2_ENST00000377982.4_3'UTR NM_005722.3 NP_005713.1 P61160 ARP2_HUMAN ARP2 actin-related protein 2 homolog (yeast) NA NA Arp2/3 complex-mediated actin nucleation (GO:0034314)|asymmetric cell division (GO:0008356)|cellular component movement (GO:0006928)|cilium assembly (GO:0042384)|cytoplasmic transport (GO:0016482)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|meiotic chromosome movement towards spindle pole (GO:0016344)|meiotic cytokinesis (GO:0033206)|spindle localization (GO:0051653) actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020) ATP binding (GO:0005524)|structural constituent of cytoskeleton (GO:0005200) NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|prostate(1) 12 TCTGAGTTTAATTCAACTGCT 0.398 NA A||| 556 0.111022 0.0666 0.1628 5008 , , NA 18262 0.2232 NA 0.0318 False NA ,,, NA NA NA 2504 0.1002 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF006082 CCDS1881.1, CCDS46307.1 2p14 2008-05-20 2001-11-28 ENSG00000138071 ENSG00000138071 10097 169 protein-coding gene gene with protein product 604221 ARP2 (actin-related protein 2, yeast) homolog NA 9230079 Standard NM_001005386 NM_001005386 NA Approved ARP2 uc002sdp.3 P61160 OTTHUMG00000129540 ENST00000260641.5:c.*190A>G chr2.hg19:g.65496058A>G NA B2RCP5|D6W5F4|E9PF41|O15142|Q96C82 hg19 CCDS1881.1 0.02 6.249481 TTAxTTC COVERED NOVEL ACTR2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251730.1 0 6.918758 KEEP 0 0 0 23 666 AA 0.999892 0.999892 0 + 8 60 297 0 0 19.230179 176 60 6408 208 ENST00000260641.5 0.043478 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 68075161 68075161 __UNKNOWN__ IGR SNP T T A rs2566798 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:68075161T>A NA NA AC010987.6 (22467 upstream) : C1D (193100 downstream) NA NA NA CTGTCTCAGATCTGTCCTGCT 0.458 NA T||| 625 0.1248 0.0522 0.245 5008 , , NA 17002 0.123 NA 0.1044 False NA ,,, NA NA NA 2504 0.1605 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.68075161T>A NA hg19 0.02 -0.245634 AGAxCTG COVERED NOVEL 0 0 3.108585 KEEP 0 1 21 18 562 TT 0.99986 0.641257 0 3 60 101 0 0 7.392196 25 60 875 56 0.107143 0.641347 WDR92 116143 __UNKNOWN__ __UNKNOWN__ 2 68382969 68382969 __UNKNOWN__ Intron SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:68382969C>T ENST00000295121.6 - 1 300 WDR92_ENST00000409164.1_Intron|WDR92_ENST00000406245.2_Intron|RP11-474G23.1_ENST00000406334.3_Intron|WDR92_ENST00000492039.2_Intron NM_138458.3 NP_612467.1 Q96MX6 WDR92_HUMAN WD repeat domain 92 NA NA apoptotic process (GO:0006915)|histone lysine methylation (GO:0034968) methylated histone binding (GO:0035064) endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|stomach(1) 12 tggctcacgcctgtaatccca 0.478 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK056303 CCDS1884.1, CCDS58712.1 2p14 2013-01-09 ENSG00000243667 ENSG00000243667 116143 WD repeat domain containing 25176 protein-coding gene gene with protein product 610729 NA 16487927 Standard NM_138458 NM_138458 NA Approved FLJ31741, Monad uc002see.2 Q96MX6 OTTHUMG00000152561 ENST00000295121.6:c.183+1423G>A chr2.hg19:g.68382969C>T NA Q96CR6 hg19 CCDS1884.1 0.02 -0.070187 CGCxTGT UNCOVERED NOVEL WDR92-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251754.2 2 2.407806 KEEP 0 0 0 8 280 CC 0.99257 0.053735 0 - 3 60 109 0 0 10.03274 5 60 195 20 ENST00000295121.6 0.375 0.054137 PNO1 56902 __UNKNOWN__ __UNKNOWN__ 2 68388823 68388823 __UNKNOWN__ Silent SNP A A G rs1137930 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:68388823A>G ENST00000263657.2 + 3 457 c.366A>G c.(364-366)aaA>aaG p.K122K RP11-474G23.1_ENST00000406334.3_Intron NM_020143.2 NP_064528.1 Q9NRX1 PNO1_HUMAN partner of NOB1 homolog (S. cerevisiae) 122 NA nucleolus (GO:0005730)|nucleus (GO:0005634) poly(A) RNA binding (GO:0044822) endometrium(1)|large_intestine(1)|lung(2) 4 AGACTTGTAAAGAAACCAAGG 0.348 NA A||| 1702 0.339856 0.0809 0.353 5008 , , NA 19239 0.4881 NA 0.327 False NA ,,, NA NA NA 2504 0.5409 NA NA NA NSCLC(83;642 1410 13044 32832 40058) NA 0 A 562,3844 247.2+/-255.5 36,490,1677 100 103 102 366 3.4 1 2 dbSNP_86 102 2618,5982 420.3+/-353.3 402,1814,2084 yes coding-synonymous PNO1 NM_020143.2 438,2304,3761 GG,GA,AA 30.4419,12.7553,24.4503 122/253 68388823 3180,9826 2203 4300 6503 SO:0001819 synonymous_variant AF164799 CCDS1885.1 2p14 2010-07-06 ENSG00000115946 ENSG00000115946 56902 32790 protein-coding gene gene with protein product RNA binding protein KH-type RNA binding protein 1, KH-type RNA-binding protein 1 KHRBP1 NA 15497447 Standard NM_020143 NM_020143 NA Approved RRP20 uc002seh.3 Q9NRX1 OTTHUMG00000129563 ENST00000263657.2:c.366A>G chr2.hg19:g.68388823A>G NA A8K6Q0|Q53G13|Q8WVB8 hg19 CCDS1885.1 0.02 20.314564 TAAxGAA COVERED NOVEL PNO1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251756.1 3 39.723124 KEEP 0 0 0 132 4336 AA 1 1 0 + 29 60 1091 0 0 77.188928 391 60 14322 714 ENST00000263657.2 0.069048 1 PPP3R1 5534 __UNKNOWN__ __UNKNOWN__ 2 68407926 68407926 __UNKNOWN__ 3'UTR SNP A A G rs875 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:68407926A>G ENST00000234310.3 - 0 1085 RP11-474G23.1_ENST00000406334.3_Intron NM_000945.3 NP_000936.1 P63098 CANB1_HUMAN protein phosphatase 3, regulatory subunit B, alpha NA NA apoptotic process (GO:0006915)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|lung epithelial cell differentiation (GO:0060487)|NFAT protein import into nucleus (GO:0051531)|patterning of blood vessels (GO:0001569)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein dephosphorylation (GO:0006470) calcineurin complex (GO:0005955)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|sarcolemma (GO:0042383) calcium ion binding (GO:0005509)|calcium-dependent protein serine/threonine phosphatase activity (GO:0004723)|calmodulin binding (GO:0005516)|protein domain specific binding (GO:0019904) large_intestine(1) 1 TGAGAGAATTACAGTTCAATA 0.393 NA A||| 1736 0.346645 0.0802 0.3559 5008 , , NA 16909 0.4881 NA 0.3459 False NA ,,, NA NA NA 2504 0.5552 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M30773 CCDS46310.1 2p14 2013-01-10 2010-04-14 ENSG00000221823 ENSG00000221823 5534 3.1.3.16 Serine/threonine phosphatases / Protein phosphatase 3, regulatory subunits, EF-hand domain containing 9317 protein-coding gene gene with protein product calcineurin B, type I (19kDa), protein phosphatase 2B regulatory subunit B alpha 601302 protein phosphatase 3 (formerly 2B), regulatory subunit B (19kD), alpha isoform (calcineurin B, type I), protein phosphatase 3 (formerly 2B), regulatory subunit B, 19kDa, alpha isoform (calcineurin B, type I), protein phosphatase 3 (formerly 2B), regulatory subunit B, alpha isoform NA 8978785, 2558868 Standard NM_000945 NM_000945 NA Approved CALNB1, CNB, CNB1 uc002sei.1 P63098 OTTHUMG00000129561 ENST00000234310.3:c.*169T>C chr2.hg19:g.68407926A>G NA B2RC10|B5MDU4|P06705|P15117|Q08044|Q53SL0 hg19 CCDS46310.1 0.02 7.102879 ATTxCAG COVERED NOVEL PPP3R1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000326765.4 0 6.318191 KEEP 0 0 0 21 634 AA 0.999869 0.999869 0 - 7 60 256 0 0 16.565836 148 60 5334 208 ENST00000234310.3 0.045161 1 PPP3R1 5534 __UNKNOWN__ __UNKNOWN__ 2 68415767 68415767 __UNKNOWN__ Silent SNP G G A rs687 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:68415767G>A ENST00000234310.3 - 3 502 c.99C>T c.(97-99)gaC>gaT p.D33D PPP3R1_ENST00000409377.1_Silent_p.D23D|RP11-474G23.1_ENST00000406334.3_Silent_p.D23D|PPP3R1_ENST00000409752.1_Silent_p.D52D NM_000945.3 NP_000936.1 P63098 CANB1_HUMAN protein phosphatase 3, regulatory subunit B, alpha 33 EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}. NA apoptotic process (GO:0006915)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|lung epithelial cell differentiation (GO:0060487)|NFAT protein import into nucleus (GO:0051531)|patterning of blood vessels (GO:0001569)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein dephosphorylation (GO:0006470) calcineurin complex (GO:0005955)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|sarcolemma (GO:0042383) calcium ion binding (GO:0005509)|calcium-dependent protein serine/threonine phosphatase activity (GO:0004723)|calmodulin binding (GO:0005516)|protein domain specific binding (GO:0019904) large_intestine(1) 1 AACCAGAATTGTCCAAATCAA 0.353 NA G||| 2582 0.515575 0.5227 0.4798 5008 , , NA 15459 0.494 NA 0.4195 False NA ,,, NA NA NA 2504 0.6524 NA NA NA NA 0 G 1763,1895 425,913,491 78 74 75 99 5.9 1 2 dbSNP_120 75 3226,4950 658,1910,1520 no coding-synonymous PPP3R1 NM_000945.3 1083,2823,2011 AA,AG,GG 39.4569,48.1957,42.1582 33/171 68415767 4989,6845 1829 4088 5917 SO:0001819 synonymous_variant M30773 CCDS46310.1 2p14 2013-01-10 2010-04-14 ENSG00000221823 ENSG00000221823 5534 3.1.3.16 Serine/threonine phosphatases / Protein phosphatase 3, regulatory subunits, EF-hand domain containing 9317 protein-coding gene gene with protein product calcineurin B, type I (19kDa), protein phosphatase 2B regulatory subunit B alpha 601302 protein phosphatase 3 (formerly 2B), regulatory subunit B (19kD), alpha isoform (calcineurin B, type I), protein phosphatase 3 (formerly 2B), regulatory subunit B, 19kDa, alpha isoform (calcineurin B, type I), protein phosphatase 3 (formerly 2B), regulatory subunit B, alpha isoform NA 8978785, 2558868 Standard NM_000945 NM_000945 NA Approved CALNB1, CNB, CNB1 uc002sei.1 P63098 OTTHUMG00000129561 ENST00000234310.3:c.99C>T chr2.hg19:g.68415767G>A NA B2RC10|B5MDU4|P06705|P15117|Q08044|Q53SL0 hg19 CCDS46310.1 0.02 9.061131 ATTxTCC COVERED NOVEL PPP3R1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000326765.4 3 29.195722 KEEP 0 0 0 97 3487 GG 1 1 0 - 12 60 453 0 0 31.209246 192 60 7293 381 ENST00000234310.3 0.058824 1 PPP3R1 5534 __UNKNOWN__ __UNKNOWN__ 2 68479576 68479576 __UNKNOWN__ 5'UTR SNP G G A rs4519508 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:68479576G>A ENST00000234310.3 - 0 87 RP11-474G23.1_ENST00000406334.3_Intron|PPP3R1_ENST00000409752.1_Intron NM_000945.3 NP_000936.1 P63098 CANB1_HUMAN protein phosphatase 3, regulatory subunit B, alpha NA NA apoptotic process (GO:0006915)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|lung epithelial cell differentiation (GO:0060487)|NFAT protein import into nucleus (GO:0051531)|patterning of blood vessels (GO:0001569)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein dephosphorylation (GO:0006470) calcineurin complex (GO:0005955)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|sarcolemma (GO:0042383) calcium ion binding (GO:0005509)|calcium-dependent protein serine/threonine phosphatase activity (GO:0004723)|calmodulin binding (GO:0005516)|protein domain specific binding (GO:0019904) large_intestine(1) 1 AAGACGGCCGGGAAACTCGGG 0.672 NA G||| 2316 0.46246 0.3245 0.4568 5008 , , NA 4972 0.504 NA 0.4165 False NA ,,, NA NA NA 2504 0.6575 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant M30773 CCDS46310.1 2p14 2013-01-10 2010-04-14 ENSG00000221823 ENSG00000221823 5534 3.1.3.16 Serine/threonine phosphatases / Protein phosphatase 3, regulatory subunits, EF-hand domain containing 9317 protein-coding gene gene with protein product calcineurin B, type I (19kDa), protein phosphatase 2B regulatory subunit B alpha 601302 protein phosphatase 3 (formerly 2B), regulatory subunit B (19kD), alpha isoform (calcineurin B, type I), protein phosphatase 3 (formerly 2B), regulatory subunit B, 19kDa, alpha isoform (calcineurin B, type I), protein phosphatase 3 (formerly 2B), regulatory subunit B, alpha isoform NA 8978785, 2558868 Standard NM_000945 NM_000945 NA Approved CALNB1, CNB, CNB1 uc002sei.1 P63098 OTTHUMG00000129561 ENST00000234310.3:c.-317C>T chr2.hg19:g.68479576G>A NA B2RC10|B5MDU4|P06705|P15117|Q08044|Q53SL0 hg19 CCDS46310.1 0.02 4.457765 CCGxGAA COVERED NOVEL PPP3R1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000326765.4 2 54.694127 KEEP 0 0 0 182 6341 GG 1 0.999998 0 - 8 60 281 0 0 19.374957 105 60 3941 438 ENST00000234310.3 0.070796 0.999998 FBXO48 554251 __UNKNOWN__ __UNKNOWN__ 2 68689992 68689992 __UNKNOWN__ 3'UTR SNP G G C rs113018168 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:68689992G>C ENST00000377957.3 - 0 2224 NM_001024680.1 NP_001019851.1 Q5FWF7 FBX48_HUMAN F-box protein 48 NA NA endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1) 4 aaacgttacagagaggtggtc 0.468 NA g||| 137 0.0273562 0.003 0.0159 5008 , , NA 20438 0.0357 NA 0.0398 False NA ,,, NA NA NA 2504 0.047 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC089423 CCDS33213.1 2p13.3 2011-03-09 ENSG00000204923 ENSG00000204923 554251 F-boxes / other 33857 protein-coding gene gene with protein product NA Standard NM_001024680 XM_005264407 NA Approved uc002seo.3 Q5FWF7 OTTHUMG00000152585 ENST00000377957.3:c.*1349C>G chr2.hg19:g.68689992G>C NA hg19 CCDS33213.1 0.02 7.11514 ACAxAGA COVERED NOVEL FBXO48-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000326900.2 0 9.931419 KEEP 0 0 0 33 1157 GG 0.999998 0.999998 0 - 8 60 312 0 0 21.116495 157 60 5970 235 ENST00000377957.3 0.048485 1 FBXO48 554251 __UNKNOWN__ __UNKNOWN__ 2 68690710 68690710 __UNKNOWN__ 3'UTR SNP G G A rs113552873 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:68690710G>A ENST00000377957.3 - 0 1506 NM_001024680.1 NP_001019851.1 Q5FWF7 FBX48_HUMAN F-box protein 48 NA NA endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1) 4 TTCAGCTCCTGAGAGCCGTTC 0.398 NA g||| 136 0.0271565 0.003 0.0159 5008 , , NA 15921 0.0357 NA 0.0388 False NA ,,, NA NA NA 2504 0.047 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC089423 CCDS33213.1 2p13.3 2011-03-09 ENSG00000204923 ENSG00000204923 554251 F-boxes / other 33857 protein-coding gene gene with protein product NA Standard NM_001024680 XM_005264407 NA Approved uc002seo.3 Q5FWF7 OTTHUMG00000152585 ENST00000377957.3:c.*631C>T chr2.hg19:g.68690710G>A NA hg19 CCDS33213.1 0.02 4.287629 CCTxAGA COVERED NOVEL FBXO48-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000326900.2 4 12.94167 KEEP 0 0 0 43 1501 GG 1 0.999999 0 - 5 60 188 0 0 12.089111 119 60 4528 199 ENST00000377957.3 0.040323 0.999999 APLF 200558 __UNKNOWN__ __UNKNOWN__ 2 68699423 68699423 __UNKNOWN__ Intron SNP G G A rs111685109 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:68699423G>A ENST00000303795.4 + 1 267 NM_173545.2 NP_775816.1 Q8IW19 APLF_HUMAN aprataxin and PNKP like factor NA NA cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of DNA ligation (GO:0051106)|regulation of isotype switching (GO:0045191)|single strand break repair (GO:0000012) cytoplasm (GO:0005737)|nucleus (GO:0005634)|site of double-strand break (GO:0035861) 3'-5' exonuclease activity (GO:0008408)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|endodeoxyribonuclease activity (GO:0004520)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166) autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1) 25 attctctatagaatgtgggtt 0.383 NA G||| 136 0.0271565 0.003 0.0144 5008 , , NA 17971 0.0357 NA 0.0398 False NA ,,, NA NA NA 2504 0.047 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC030711 CCDS1888.1 2p14 2014-02-20 2008-10-01 2008-10-01 ENSG00000169621 ENSG00000169621 200558 28724 protein-coding gene gene with protein product XRCC1-interacting protein 1, zinc finger, CX5CX6HX5H motif containing 1 611035 chromosome 2 open reading frame 13 C2orf13 NA 18474613, 18077224, 17353262 Standard NM_173545 NM_173545 NA Approved MGC47799, Xip1, ZCCHH1 uc002sep.3 Q8IW19 OTTHUMG00000129566 ENST00000303795.4:c.96+4464G>A chr2.hg19:g.68699423G>A NA A8K476|Q53P47|Q53PB9|Q53QU0 hg19 CCDS1888.1 0.02 -0.359553 ATAxAAT COVERED NOVEL APLF-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251759.1 0 4.213921 KEEP 0 0 0 14 510 GG 0.995343 0.884736 0 + 3 60 107 0 0 7.472206 38 60 1446 78 ENST00000303795.4 0.073171 0.888875 ARHGAP25 9938 __UNKNOWN__ __UNKNOWN__ 2 69053497 69053497 __UNKNOWN__ 3'UTR SNP G G A rs3749132 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:69053497G>A ENST00000409202.3 + 0 2477 ARHGAP25_ENST00000409220.1_3'UTR|ARHGAP25_ENST00000409030.3_3'UTR|ARHGAP25_ENST00000295381.3_3'UTR|ARHGAP25_ENST00000479844.1_3'UTR P42331 RHG25_HUMAN Rho GTPase activating protein 25 NA NA regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829) GTPase activator activity (GO:0005096) breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 52 GAAGGTGAGGGTGAGCAGAGA 0.433 NA G||| 207 0.0413339 0.0038 0.0461 5008 , , NA 22568 0.0744 NA 0.0447 False NA ,,, NA NA NA 2504 0.0511 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D29642 CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1 2p13.3 2013-01-10 ENSG00000163219 ENSG00000163219 9938 Rho GTPase activating proteins, Pleckstrin homology (PH) domain containing 28951 protein-coding gene gene with protein product 610587 NA 7584044 Standard NM_014882 NM_001007231 NA Approved KIAA0053 uc010fdg.3 P42331 OTTHUMG00000152621 ENST00000409202.3:c.*171G>A chr2.hg19:g.69053497G>A NA A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2 hg19 CCDS33214.2 0.02 9.360925 AGGxTGA COVERED NOVEL ARHGAP25-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000327031.2 4 6.320252 KEEP 0 0 0 21 726 GG 0.999869 0.999869 0 + 13 60 484 0 0 33.631674 190 60 6914 239 ENST00000409202.3 0.064039 1 ARHGAP25 9938 __UNKNOWN__ __UNKNOWN__ 2 69053754 69053754 __UNKNOWN__ 3'UTR SNP C C T rs75478626 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:69053754C>T ENST00000409202.3 + 0 2734 ARHGAP25_ENST00000409220.1_3'UTR|ARHGAP25_ENST00000409030.3_3'UTR|ARHGAP25_ENST00000295381.3_3'UTR|ARHGAP25_ENST00000479844.1_3'UTR P42331 RHG25_HUMAN Rho GTPase activating protein 25 NA NA regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829) GTPase activator activity (GO:0005096) breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 52 AAATGACATTCATCTTTTGAG 0.507 NA C||| 207 0.0413339 0.0038 0.0461 5008 , , NA 17612 0.0744 NA 0.0447 False NA ,,, NA NA NA 2504 0.0511 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D29642 CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1 2p13.3 2013-01-10 ENSG00000163219 ENSG00000163219 9938 Rho GTPase activating proteins, Pleckstrin homology (PH) domain containing 28951 protein-coding gene gene with protein product 610587 NA 7584044 Standard NM_014882 NM_001007231 NA Approved KIAA0053 uc010fdg.3 P42331 OTTHUMG00000152621 ENST00000409202.3:c.*428C>T chr2.hg19:g.69053754C>T NA A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2 hg19 CCDS33214.2 0.02 6.715764 ATTxATC COVERED NOVEL ARHGAP25-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000327031.2 4 13.842947 KEEP 0 0 0 46 1545 CC 1 1 0 + 16 60 570 0 0 41.826 149 60 5659 246 ENST00000409202.3 0.09697 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 69058139 69058139 __UNKNOWN__ IGR SNP C C G rs76013353 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:69058139C>G NA NA ARHGAP25 (4174 upstream) : AC097495.2 (1036 downstream) NA NA NA gccagtctggccaacatagtg 0.557 NA C||| 232 0.0463259 0.0234 0.0447 5008 , , NA 17311 0.0734 NA 0.0457 False NA ,,, NA NA NA 2504 0.0511 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.69058139C>G NA hg19 0.02 -0.061412 TGGxCAA UNCOVERED NOVEL 0 1 2.708976 KEEP 0 0 0 9 331 CC 0.99254 0.04346 0 2 60 73 0 0 6.435515 5 60 181 20 0.285714 0.043787 BMP10 27302 __UNKNOWN__ __UNKNOWN__ 2 69093312 69093312 __UNKNOWN__ Silent SNP A A G rs2231344 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:69093312A>G ENST00000295379.1 - 2 884 c.726T>C c.(724-726)gaT>gaC p.D242D NM_014482.1 NP_055297.1 O95393 BMP10_HUMAN bone morphogenetic protein 10 242 NA activin receptor signaling pathway (GO:0032924)|adult heart development (GO:0007512)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heart trabecula formation (GO:0060347)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell migration (GO:0010596)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction (GO:0055117)|sarcomere organization (GO:0045214)|ventricular cardiac muscle cell development (GO:0055015)|ventricular cardiac muscle tissue morphogenesis (GO:0055010) cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Z disc (GO:0030018) hormone activity (GO:0005179)|receptor serine/threonine kinase binding (GO:0033612) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2) 27 GGGCACTGGTATCTATTTCTA 0.488 NA G||| 710 0.141773 0.3048 0.0908 5008 , , NA 21484 0.1151 NA 0.0606 False NA ,,, NA NA NA 2504 0.0685 NA NA NA NA 0 G 1168,3238 713.3+/-408.2 158,852,1193 106 95 98 726 3.2 1 2 dbSNP_98 98 570,8030 793.8+/-407.5 17,536,3747 no coding-synonymous BMP10 NM_014482.1 175,1388,4940 GG,GA,AA 6.6279,26.5093,13.3631 242/425 69093312 1738,11268 2203 4300 6503 SO:0001819 synonymous_variant AF101441 CCDS1890.1 2p13.2 2014-09-17 ENSG00000163217 ENSG00000163217 27302 Bone morphogenetic proteins, Endogenous ligands 20869 protein-coding gene gene with protein product 608748 NA 10072785 Standard NM_014482 NM_014482 NA Approved uc002sez.1 O95393 OTTHUMG00000129573 ENST00000295379.1:c.726T>C chr2.hg19:g.69093312A>G NA Q53R17|Q6NTE0 hg19 CCDS1890.1 0.02 11.17678 GGTxTCT COVERED NOVEL BMP10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251768.1 3 14.442536 KEEP 0 0 0 48 1469 AA 1 1 0 - 16 60 598 0 0 40.506442 276 60 9921 406 ENST00000295379.1 0.054795 1 GKN1 56287 __UNKNOWN__ __UNKNOWN__ 2 69207987 69207987 __UNKNOWN__ 3'UTR SNP A A G rs73934216 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:69207987A>G ENST00000377938.2 + 0 695 NM_019617.3 NP_062563.3 Q9NS71 GKN1_HUMAN gastrokine 1 NA NA digestion (GO:0007586)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284) extracellular region (GO:0005576)|secretory granule (GO:0030141) breast(2)|large_intestine(4)|lung(5) 11 GGATTTAGTCATCTGAATATG 0.368 NA A||| 250 0.0499201 0.0666 0.0231 5008 , , NA 18479 0.0873 NA 0.007 False NA ,,, NA NA NA 2504 0.0521 NA NA NA NA 0 A 218,4188 130.6+/-167.2 5,208,1990 47 45 46 3 0 2 dbSNP_130 46 29,8571 19.8+/-62.0 0,29,4271 no utr-3 GKN1 NM_019617.3 5,237,6261 GG,GA,AA 0.3372,4.9478,1.8991 69207987 247,12759 2203 4300 6503 SO:0001624 3_prime_UTR_variant AY139182 CCDS1891.2 2p13.3 2012-10-10 ENSG00000169605 ENSG00000169605 56287 BRICHOS domain containing 23217 protein-coding gene gene with protein product BRICHOS domain containing 1 606402 NA 12851218, 11562744 Standard NM_019617 NM_019617 NA Approved AMP18, CA11, BRICD1 uc002sfc.3 Q9NS71 OTTHUMG00000129574 ENST00000377938.2:c.*32A>G chr2.hg19:g.69207987A>G NA Q8IUA9 hg19 CCDS1891.2 0.02 8.149575 GTCxTCT COVERED NOVEL GKN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251769.2 0 6.920245 KEEP 0 0 0 23 703 AA 0.999892 0.999892 0 + 8 60 279 0 0 16.852078 209 60 7618 268 ENST00000377938.2 0.036866 1 ANTXR1 84168 __UNKNOWN__ __UNKNOWN__ 2 69379280 69379280 __UNKNOWN__ Intron SNP G G A rs79337921 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:69379280G>A ENST00000303714.4 + 13 1273 ANTXR1_ENST00000409349.3_Intron NM_032208.2 NP_115584.1 Q9H6X2 ANTR1_HUMAN anthrax toxin receptor 1 NA NA actin cytoskeleton reorganization (GO:0031532)|reproductive process (GO:0022414)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446) cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|lamellipodium membrane (GO:0031258) actin filament binding (GO:0051015)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|transmembrane signaling receptor activity (GO:0004888) haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 29 GCTGCTGACCGCCTCTCTCTT 0.582 NA Familial Infantile Hemangioma G||| 117 0.0233626 0.0 0.0216 5008 , , NA 19495 0.0933 NA 0.005 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 G , 7,4399 12.9+/-30.5 0,7,2196 149 108 122 , -4 0 2 dbSNP_131 122 42,8558 27.4+/-76.7 0,42,4258 no intron,intron ANTXR1 NM_032208.2,NM_053034.2 , 0,49,6454 AA,AG,GG 0.4884,0.1589,0.3767 , , 69379280 49,12957 2203 4300 6503 SO:0001627 intron_variant Familial Cancer Database Infantile Capillary Hemangioma, HCI, Hereditary Capillary Hemangioma AF421380 CCDS1892.1, CCDS46313.1, CCDS46314.1 2p13.1 2006-04-12 ENSG00000169604 ENSG00000169604 84168 21014 protein-coding gene gene with protein product anthrax toxin receptor, tumor endothelial marker 8 precursor 606410 NA 10947988, 11559528 Standard NM_032208 NM_032208 NA Approved TEM8, FLJ21776, FLJ10601, ATR uc002sfg.3 Q9H6X2 OTTHUMG00000129575 ENST00000303714.4:c.952-21G>A chr2.hg19:g.69379280G>A NA A8K7U8|J7K7G4|J7KF88|Q4ZFV6|Q53QD8|Q96P02|Q9NVP3 hg19 CCDS1892.1 0.02 6.560665 ACCxCCT COVERED NOVEL ANTXR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251770.2 0 30.956229 KEEP 0 0 0 103 3487 GG 1 1 0 + 7 60 261 0 0 16.565441 175 60 5865 356 ENST00000303714.4 0.038462 1 AAK1 22848 __UNKNOWN__ __UNKNOWN__ 2 69709664 69709664 __UNKNOWN__ Intron SNP G G A rs3732274 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:69709664G>A ENST00000409085.4 - 18 2844 AAK1_ENST00000406297.3_3'UTR|AAK1_ENST00000409068.1_Intron NM_014911.3 NP_055726 Q2M2I8 AAK1_HUMAN AP2 associated kinase 1 NA NA endocytosis (GO:0006897)|positive regulation of Notch signaling pathway (GO:0045747)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of clathrin-mediated endocytosis (GO:2000369)|regulation of protein localization (GO:0032880) cell leading edge (GO:0031252)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extrinsic component of plasma membrane (GO:0019897)|terminal bouton (GO:0043195) AP-2 adaptor complex binding (GO:0035612)|ATP binding (GO:0005524)|Notch binding (GO:0005112)|protein serine/threonine kinase activity (GO:0004674) NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1) 17 AAAAATAGACGTTGTACCCCC 0.408 NA G||| 73 0.0145767 0.0 0.0 5008 , , NA 19743 0.0635 NA 0.007 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB028971 CCDS1893.2 2p13.3 2012-07-10 ENSG00000115977 ENSG00000115977 22848 19679 protein-coding gene gene with protein product NA 11877461, 12471243 Standard NM_014911 NM_014911 NA Approved KIAA1048, DKFZp686K16132 uc002sfp.2 Q2M2I8 OTTHUMG00000129648 ENST00000409085.4:c.2467+178C>T chr2.hg19:g.69709664G>A NA Q4ZFZ3|Q53RX6|Q9UPV4 hg19 CCDS1893.2 0.02 2.061169 GACxTTG COVERED NOVEL AAK1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251847.4 0 2.708495 KEEP 0 0 0 9 296 GG 0.99254 0.992031 0 - 4 60 151 0 0 10.052037 79 60 2647 94 ENST00000409085.4 0.048193 0.999487 ANXA4 307 __UNKNOWN__ __UNKNOWN__ 2 70015181 70015181 __UNKNOWN__ Intron SNP C C T rs10496171 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:70015181C>T ENST00000394295.4 + 3 257 ANXA4_ENST00000409920.1_Intron|ANXA4_ENST00000536030.1_Intron NM_001153.3 NP_001144.1 P09525 ANXA4_HUMAN annexin A4 NA NA epithelial cell differentiation (GO:0030855)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of interleukin-8 secretion (GO:2000483)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165) cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506) calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phospholipase inhibitor activity (GO:0004859) endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1) 11 CTCTTGTGTGCTCAGGCAACC 0.507 NA C||| 1409 0.28135 0.2663 0.2378 5008 , , NA 21461 0.3333 NA 0.2435 False NA ,,, NA NA NA 2504 0.318 NA NA NA NA 0 C 1084,3322 393.3+/-328.8 136,812,1255 113 99 104 -1.6 0 2 dbSNP_119 104 1958,6642 343.5+/-324.9 223,1512,2565 no intron ANXA4 NM_001153.3 359,2324,3820 TT,TC,CC 22.7674,24.6028,23.3892 70015181 3042,9964 2203 4300 6503 SO:0001627 intron_variant M82809 CCDS1894.1 2p13.3 2008-02-05 ENSG00000196975 ENSG00000196975 307 Annexins 542 protein-coding gene gene with protein product 106491 ANX4 NA 1346776 Standard NM_001153 NM_001153 NA Approved uc002sfr.4 P09525 OTTHUMG00000129649 ENST00000394295.4:c.10-5C>T chr2.hg19:g.70015181C>T NA B4DDF9|Q96F33|Q9BWK1 hg19 CCDS1894.1 0.02 8.289537 GTGxTCA COVERED NOVEL ANXA4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251848.2 0 15.350362 KEEP 0 0 0 51 1843 CC 1 1 0 + 12 60 418 0 0 27.793003 189 60 7215 321 ENST00000394295.4 0.059701 1 ANXA4 307 __UNKNOWN__ __UNKNOWN__ 2 70031797 70031797 __UNKNOWN__ Intron SNP C C G rs3771541 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:70031797C>G ENST00000394295.4 + 4 440 ANXA4_ENST00000409920.1_Intron|ANXA4_ENST00000536030.1_Intron NM_001153.3 NP_001144.1 P09525 ANXA4_HUMAN annexin A4 NA NA epithelial cell differentiation (GO:0030855)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of interleukin-8 secretion (GO:2000483)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165) cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506) calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phospholipase inhibitor activity (GO:0004859) endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1) 11 TGGCTGACTTCGCAGCAACAG 0.532 NA G||| 3289 0.656749 0.9198 0.6888 5008 , , NA 20118 0.6677 NA 0.4622 False NA ,,, NA NA NA 2504 0.4673 NA NA NA NA 0 G 3706,698 1560,586,56 52 36 41 -1.9 0 2 dbSNP_107 41 3836,4762 870,2096,1333 no intron ANXA4 NM_001153.3 2430,2682,1389 GG,GC,CC 44.615,15.8492,41.9935 70031797 7542,5460 2202 4299 6501 SO:0001627 intron_variant M82809 CCDS1894.1 2p13.3 2008-02-05 ENSG00000196975 ENSG00000196975 307 Annexins 542 protein-coding gene gene with protein product 106491 ANX4 NA 1346776 Standard NM_001153 NM_001153 NA Approved uc002sfr.4 P09525 OTTHUMG00000129649 ENST00000394295.4:c.192+38C>G chr2.hg19:g.70031797C>G NA B4DDF9|Q96F33|Q9BWK1 hg19 CCDS1894.1 0.02 4.163941 CTTxGCA COVERED NOVEL ANXA4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251848.2 1 9.027704 KEEP 0 0 0 30 968 CC 0.999997 0.999978 0 + 6 60 217 0 0 14.603811 98 60 3261 156 ENST00000394295.4 0.057692 0.999981 GMCL1 64395 __UNKNOWN__ __UNKNOWN__ 2 70106832 70106832 __UNKNOWN__ 3'UTR SNP T T C rs6747542 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:70106832T>C ENST00000282570.3 + 0 2495 NM_178439.3 NP_848526.1 Q96IK5 GMCL1_HUMAN germ cell-less, spermatogenesis associated 1 NA NA cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283) nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363) endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 15 AAGTTAGCTTTGCACCTTCAA 0.318 NA C||| 2945 0.588059 0.59 0.67 5008 , , NA 17252 0.6696 NA 0.4612 False NA ,,, NA NA NA 2504 0.5736 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK023119 CCDS1895.1 2p13.3 2013-01-09 2012-08-20 ENSG00000087338 ENSG00000087338 64395 BTB/POZ domain containing 23843 protein-coding gene gene with protein product spermatogenesis associated 29 germ cell-less homolog 1 (Drosophila) NA Standard NM_178439 NM_178439 NA Approved FLJ13057, BTBD13, GCL1, SPATA29 uc002sfu.3 Q96IK5 OTTHUMG00000129643 ENST00000282570.3:c.*696T>C chr2.hg19:g.70106832T>C NA Q9H826|Q9H8V7|Q9H927 hg19 CCDS1895.1 0.02 6.689909 CTTxGCA COVERED NOVEL GMCL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251841.2 4 13.84068 KEEP 0 0 0 46 1431 TT 1 1 0 + 10 60 358 0 0 24.11519 158 60 5798 257 ENST00000282570.3 0.059524 1 GMCL1 64395 __UNKNOWN__ __UNKNOWN__ 2 70107409 70107409 __UNKNOWN__ 3'UTR SNP A A G rs2124007 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:70107409A>G ENST00000282570.3 + 0 3072 NM_178439.3 NP_848526.1 Q96IK5 GMCL1_HUMAN germ cell-less, spermatogenesis associated 1 NA NA cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283) nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363) endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 15 CTTACATAAAATGGACCAAAA 0.249 NA A||| 942 0.188099 0.2428 0.1686 5008 , , NA 15113 0.2014 NA 0.2018 False NA ,,, NA NA NA 2504 0.1002 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK023119 CCDS1895.1 2p13.3 2013-01-09 2012-08-20 ENSG00000087338 ENSG00000087338 64395 BTB/POZ domain containing 23843 protein-coding gene gene with protein product spermatogenesis associated 29 germ cell-less homolog 1 (Drosophila) NA Standard NM_178439 NM_178439 NA Approved FLJ13057, BTBD13, GCL1, SPATA29 uc002sfu.3 Q96IK5 OTTHUMG00000129643 ENST00000282570.3:c.*1273A>G chr2.hg19:g.70107409A>G NA Q9H826|Q9H8V7|Q9H927 hg19 CCDS1895.1 0.02 9.62516 AAAxTGG COVERED NOVEL GMCL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251841.2 2 17.755593 KEEP 0 0 0 59 1939 AA 1 1 0 + 10 60 392 0 0 26.57872 197 60 7319 355 ENST00000282570.3 0.048309 1 GMCL1 64395 __UNKNOWN__ __UNKNOWN__ 2 70108256 70108256 __UNKNOWN__ 3'UTR SNP T T A rs1056482 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:70108256T>A ENST00000282570.3 + 0 3919 NM_178439.3 NP_848526.1 Q96IK5 GMCL1_HUMAN germ cell-less, spermatogenesis associated 1 NA NA cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283) nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363) endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 15 CCAAATTGGATTTATATGTGG 0.323 NA A||| 2938 0.586661 0.5885 0.6686 5008 , , NA 16884 0.6687 NA 0.4602 False NA ,,, NA NA NA 2504 0.5716 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK023119 CCDS1895.1 2p13.3 2013-01-09 2012-08-20 ENSG00000087338 ENSG00000087338 64395 BTB/POZ domain containing 23843 protein-coding gene gene with protein product spermatogenesis associated 29 germ cell-less homolog 1 (Drosophila) NA Standard NM_178439 NM_178439 NA Approved FLJ13057, BTBD13, GCL1, SPATA29 uc002sfu.3 Q96IK5 OTTHUMG00000129643 ENST00000282570.3:c.*2120T>A chr2.hg19:g.70108256T>A NA Q9H826|Q9H8V7|Q9H927 hg19 CCDS1895.1 0.02 4.557678 GGAxTTA COVERED NOVEL GMCL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251841.2 3 6.320269 KEEP 0 0 0 21 714 TT 0.999869 0.999866 0 + 11 60 410 0 0 30.4551 105 60 3772 164 ENST00000282570.3 0.094828 0.999997 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 70119469 70119469 __UNKNOWN__ IGR SNP T T C rs3755389 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:70119469T>C NA NA GMCL1 (10941 upstream) : SNRNP27 (1222 downstream) NA NA NA caagcatgcgtcaccacgcct 0.537 NA C||| 2922 0.583466 0.8442 0.3963 5008 , , NA 16919 0.5466 NA 0.4433 False NA ,,, NA NA NA 2504 0.546 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.70119469T>C NA hg19 0.02 -0.043865 GCGxCAC UNCOVERED NOVEL 0 6 2.407472 KEEP 0 0 0 8 257 TT 0.99257 0.023895 0 2 60 72 0 0 6.692805 3 60 106 15 0.4 0.024074 SNRNP27 11017 __UNKNOWN__ __UNKNOWN__ 2 70131584 70131584 __UNKNOWN__ 3'UTR SNP G G A rs1048130 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:70131584G>A ENST00000244227.3 + 0 1037 SNRNP27_ENST00000409116.1_3'UTR NM_006857.2 NP_006848.1 Q8WVK2 SNR27_HUMAN small nuclear ribonucleoprotein 27kDa (U4/U6.U5) NA NA mRNA processing (GO:0006397)|RNA splicing (GO:0008380) nucleus (GO:0005634) nucleic acid binding (GO:0003676) cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 11 TATGATATATGCAGTTAACTT 0.303 NA G||| 888 0.177316 0.2436 0.1138 5008 , , NA 16468 0.1845 NA 0.1978 False NA ,,, NA NA NA 2504 0.1043 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X76302 CCDS33219.1 2p14 2011-10-11 ENSG00000124380 ENSG00000124380 11017 30240 protein-coding gene gene with protein product nucleic acid binding protein RY 1 NA 7931148 Standard NM_006857 NM_006857 NA Approved RY1 uc002sfw.3 Q8WVK2 OTTHUMG00000152689 ENST00000244227.3:c.*144G>A chr2.hg19:g.70131584G>A NA Q15410 hg19 CCDS33219.1 0.02 16.222352 TATxCAG COVERED NOVEL SNRNP27-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000327369.1 2 24.379618 KEEP 0 0 0 81 2912 GG 1 1 0 + 11 60 399 0 0 23.06028 408 60 15398 579 ENST00000244227.3 0.026253 1 ASPRV1 151516 __UNKNOWN__ __UNKNOWN__ 2 70187727 70187727 __UNKNOWN__ 3'UTR SNP A A C rs139486708|rs12464297|rs569824707|rs374470014 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:70187727A>C ENST00000320256.4 - 0 1670 NM_152792.2 NP_690005.2 aspartic peptidase, retroviral-like 1 NA NA endometrium(3)|large_intestine(4)|lung(6)|ovary(1) 14 AGGATATGCAACCCCCCCCAC 0.567 NA C||| 1948 0.388978 0.6044 0.3674 5008 , , NA 19356 0.4405 NA 0.1123 False NA ,,, NA NA NA 2504 0.3446 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK055994 CCDS1897.1 2p13.3 2008-02-20 ENSG00000244617 ENSG00000244617 151516 26321 protein-coding gene gene with protein product Skin ASpartic Protease 611765 NA 16098038, 16565508 Standard NM_152792 NM_152792 NA Approved Taps, SASPase, FLJ25084 uc002sfz.4 Q53RT3 OTTHUMG00000129647 ENST00000320256.4:c.*62T>G chr2.hg19:g.70187727A>C NA hg19 CCDS1897.1 0.02 11.67966 GCAxCCC COVERED NOVEL ASPRV1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000334161.1 4 10.832688 KEEP 0 0 0 36 1161 AA 0.999999 0.999999 0 - 17 60 587 0 0 39.367421 264 60 9046 399 ENST00000320256.4 0.060498 1 ASPRV1 151516 __UNKNOWN__ __UNKNOWN__ 2 70188676 70188676 __UNKNOWN__ Missense_Mutation SNP T T C rs3796097 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:70188676T>C ENST00000320256.4 - 1 721 c.145A>G c.(145-147)Act>Gct p.T49A NM_152792.2 NP_690005.2 aspartic peptidase, retroviral-like 1 NA NA endometrium(3)|large_intestine(4)|lung(6)|ovary(1) 14 CGAAGCAGAGTGGGGATGACT 0.637 NA C||| 3496 0.698083 0.9145 0.7421 5008 , , NA 17996 0.6815 NA 0.503 False NA ,,, NA NA NA 2504 0.592 NA NA NA NA 0 C ALA/THR 3733,673 283.1+/-276.9 1585,563,55 45 46 46 145 -4.7 0 2 dbSNP_107 46 4480,4120 560.7+/-387.6 1171,2138,991 yes missense ASPRV1 NM_152792.2 58 2756,2701,1046 CC,CT,TT 47.907,15.2746,36.8522 benign 49/344 70188676 8213,4793 2203 4300 6503 SO:0001583 missense AK055994 CCDS1897.1 2p13.3 2008-02-20 ENSG00000244617 ENSG00000244617 151516 26321 protein-coding gene gene with protein product Skin ASpartic Protease 611765 NA 16098038, 16565508 Standard NM_152792 NM_152792 NA Approved Taps, SASPase, FLJ25084 uc002sfz.4 Q53RT3 OTTHUMG00000129647 ENST00000320256.4:c.145A>G chr2.hg19:g.70188676T>C ENSP00000315383:p.Thr49Ala NA hg19 CCDS1897.1 0.02 8.030093 GAGxGGG COVERED 1456 0.6666666666666666 450 0.9146341463414634 255 0.7044198895027625 370 0.6468531468531469 381 0.5026385224274407 C 2.190 -0.385484 0.04966 0.847254 0.52093 ENSG00000244617 ENST00000320256 T 0.43294 0.95 3.88 -4.7 0.03288 . 1.015840 0.07926 N 0.976770 T 0.00012 0.0000 N 0.08118 0 0.80722 P 0.0 B 0.09022 0.002 B 0.04013 0.001 T 0.23868 -1.0176 9 0.27082 T 0.32 . 11.8715 0.52523 0.0:0.5647:0.0:0.4353 rs3796097;rs13025324;rs3796097 49 Q53RT3 APRV1_HUMAN A 49 ENSP00000315383:T49A ENSP00000315383:T49A T - 1 0 ASPRV1 70042180 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -0.869000 0.04232 -1.206000 0.02641 -1.088000 0.02184 ACT NOVEL ASPRV1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000334161.1 0 7.153701 KEEP 0 1 38 37 1091 TT 1 1 0 - 15 60 489 0 0 32.675799 193 60 6867 268 ENST00000320256.4 0.072115 1 PCBP1-AS1 400960 __UNKNOWN__ __UNKNOWN__ 2 70190489 70190489 __UNKNOWN__ RNA SNP C C G rs75197723 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:70190489C>G ENST00000435880.2 - 0 1291 PCBP1-AS1_ENST00000419542.1_RNA|PCBP1-AS1_ENST00000596259.1_RNA NR_033872.1 PCBP1 antisense RNA 1 NA NA NA CCCAGCCACACGCAAGACCAG 0.502 NA C||| 39 0.00778754 0.0 0.0 5008 , , NA 22082 0.0377 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA 2p13.3 2012-10-12 2012-08-15 ENSG00000179818 ENSG00000179818 400960 Long non-coding RNAs 42948 non-coding RNA RNA, long non-coding PCBP1 antisense RNA 1 (non-protein coding) NA Standard NR_033872 NR_033872 NA Approved uc002sga.3 OTTHUMG00000153728 ENST00000435880.2: chr2.hg19:g.70190489C>G NA hg19 0.02 4.654968 ACAxGCA COVERED NOVEL PCBP1-AS1-001 KNOWN basic antisense NA antisense OTTHUMT00000329414.2 0 5.115792 KEEP 0 0 0 17 563 CC 0.999366 0.999351 0 - 5 60 175 0 0 11.174716 100 60 3539 144 ENST00000435880.2 0.047619 0.999984 PCBP1-AS1 400960 __UNKNOWN__ __UNKNOWN__ 2 70191360 70191360 __UNKNOWN__ RNA SNP C C T rs10203732 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:70191360C>T ENST00000435880.2 - 0 1148 PCBP1-AS1_ENST00000419542.1_RNA|PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000596259.1_RNA NR_033872.1 PCBP1 antisense RNA 1 NA NA NA AGCCCAAGCCCACCTTGGCCC 0.547 NA C||| 1133 0.226238 0.3548 0.1268 5008 , , NA 18719 0.2351 NA 0.0746 False NA ,,, NA NA NA 2504 0.2699 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA 2p13.3 2012-10-12 2012-08-15 ENSG00000179818 ENSG00000179818 400960 Long non-coding RNAs 42948 non-coding RNA RNA, long non-coding PCBP1 antisense RNA 1 (non-protein coding) NA Standard NR_033872 NR_033872 NA Approved uc002sga.3 OTTHUMG00000153728 ENST00000435880.2: chr2.hg19:g.70191360C>T NA hg19 0.02 2.214482 GCCxACC COVERED NOVEL PCBP1-AS1-001 KNOWN basic antisense NA antisense OTTHUMT00000329414.2 0 2.407824 KEEP 0 0 0 8 278 CC 0.99257 0.966729 0 - 7 60 254 0 0 19.699618 47 60 1696 74 ENST00000435880.2 0.12963 0.973965 C2orf42 54980 __UNKNOWN__ __UNKNOWN__ 2 70436551 70436551 __UNKNOWN__ Intron SNP C C T rs3732258 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:70436551C>T ENST00000470096.1 - 2 211 Q9NWW7 CB042_HUMAN chromosome 2 open reading frame 42 NA NA endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1) 12 GAATTATGGTCTTCAAATGAA 0.284 NA C||| 411 0.0820687 0.0643 0.0807 5008 , , NA 18612 0.1597 NA 0.0686 False NA ,,, NA NA NA 2504 0.0409 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK000565 CCDS1899.1 2p14 2011-03-08 ENSG00000115998 ENSG00000115998 54980 26056 protein-coding gene gene with protein product NA 12477932 Standard NM_017880 XM_005264389 NA Approved FLJ20558 uc002sgh.3 Q9NWW7 OTTHUMG00000129642 ENST00000470096.1:c.369-27422G>A chr2.hg19:g.70436551C>T NA D6W5G3|Q9H629 hg19 0.02 3.475721 GGTxTTC COVERED NOVEL C2orf42-015 PUTATIVE basic processed_transcript NA protein_coding OTTHUMT00000333758.1 1 3.044261 KEEP 0 1 31 21 710 CC 0.999879 0.999879 0 - 5 60 171 0 0 10.172746 132 60 4901 177 ENST00000470096.1 0.036496 1 TIA1 7072 __UNKNOWN__ __UNKNOWN__ 2 70436818 70436818 __UNKNOWN__ 3'UTR SNP C C T rs1059408 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:70436818C>T ENST00000415783.2 - 0 4390 C2orf42_ENST00000470096.1_Intron|TIA1_ENST00000433529.2_3'UTR NM_022037.2 NP_071320.2 P31483 TIA1_HUMAN TIA1 cytotoxic granule-associated RNA binding protein NA NA apoptotic process (GO:0006915)|negative regulation of cytokine biosynthetic process (GO:0042036)|negative regulation of translation (GO:0017148)|regulation of mRNA splicing, via spliceosome (GO:0048024) cytoplasmic stress granule (GO:0010494)|nuclear stress granule (GO:0097165) AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822) endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1) 17 TTAAGATTGACGATTTCGTGA 0.318 NA T||| 474 0.0946486 0.1112 0.0807 5008 , , NA 19683 0.1607 NA 0.0686 False NA ,,, NA NA NA 2504 0.0409 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS1900.1, CCDS1901.1 2p13 2013-02-12 2001-11-28 ENSG00000116001 ENSG00000116001 7072 RNA binding motif (RRM) containing 11802 protein-coding gene gene with protein product T-cell-restricted intracellular antigen-1, nucleolysin TIA-1 isoform p40 603518 TIA1 cytotoxic granule-associated RNA-binding protein NA 8176212, 12486009 Standard NM_022037 NM_022173 NA Approved uc002sgj.4 P31483 OTTHUMG00000129644 ENST00000415783.2:c.*3033G>A chr2.hg19:g.70436818C>T NA Q53SS9 hg19 CCDS1900.1 0.02 9.14821 TGAxGAT COVERED NOVEL TIA1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251843.1 2 12.64024 KEEP 0 0 0 42 1421 CC 1 1 0 - 7 60 265 0 0 16.417916 210 60 7216 296 ENST00000415783.2 0.032258 1 PCYOX1 51449 __UNKNOWN__ __UNKNOWN__ 2 70485320 70485320 __UNKNOWN__ Silent SNP C C T rs11556184 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:70485320C>T ENST00000264441.5 + 1 40 c.24C>T c.(22-24)ctC>ctT p.L8L PCYOX1_ENST00000505044.2_Intron|PCYOX1_ENST00000433351.2_Silent_p.L8L Q9UHG3 PCYOX_HUMAN prenylcysteine oxidase 1 8 NA prenylated protein catabolic process (GO:0030327)|prenylcysteine catabolic process (GO:0030328)|prenylcysteine metabolic process (GO:0030329) extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361) chloride-transporting ATPase activity (GO:0008555)|prenylcysteine oxidase activity (GO:0001735) breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6) 15 TCGCGGAGCTCGTCTCCTCGC 0.697 NA c||| 345 0.0688898 0.0144 0.0778 5008 , , NA 9673 0.1617 NA 0.0686 False NA ,,, NA NA NA 2504 0.0409 NA NA NA NA 0 A 106,4298 76.2+/-114.5 1,104,2097 38 39 39 24 -7.5 0 2 dbSNP_120 39 546,8054 145.7+/-201.4 11,524,3765 no coding-synonymous PCYOX1 NM_016297.3 12,628,5862 TT,TC,CC 6.3488,2.4069,5.0138 8/506 70485320 652,12352 2202 4300 6502 SO:0001819 synonymous_variant AB020715 CCDS1902.1 2p13.3 2008-02-05 ENSG00000116005 ENSG00000116005 51449 1.8.3.5 20588 protein-coding gene gene with protein product 610995 NA 10585463, 12186880 Standard NM_016297 NM_016297 NA Approved KIAA0908, PCL1 uc002sgn.4 Q9UHG3 OTTHUMG00000129671 ENST00000264441.5:c.24C>T chr2.hg19:g.70485320C>T NA B2RB14|B7Z9P8|O94982|Q8N4N5|Q96QM8 hg19 0.02 2.05068 GCTxGTC COVERED NOVEL PCYOX1-002 PUTATIVE not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000331593.2 2 22.223811 KEEP 0 0 0 74 2477 CC 1 0.999559 0 + 4 60 152 0 0 10.126366 80 60 2845 230 ENST00000264441.5 0.047619 0.999559 PCYOX1 51449 __UNKNOWN__ __UNKNOWN__ 2 70505908 70505908 __UNKNOWN__ 3'UTR SNP G G A rs6751173 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:70505908G>A ENST00000264441.5 + 0 2632 PCYOX1_ENST00000433351.2_3'UTR Q9UHG3 PCYOX_HUMAN prenylcysteine oxidase 1 NA NA prenylated protein catabolic process (GO:0030327)|prenylcysteine catabolic process (GO:0030328)|prenylcysteine metabolic process (GO:0030329) extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361) chloride-transporting ATPase activity (GO:0008555)|prenylcysteine oxidase activity (GO:0001735) breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6) 15 CATCTACTGTGCAAAGATCAT 0.363 NA A||| 347 0.0692891 0.0144 0.0778 5008 , , NA 21620 0.1637 NA 0.0686 False NA ,,, NA NA NA 2504 0.0409 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB020715 CCDS1902.1 2p13.3 2008-02-05 ENSG00000116005 ENSG00000116005 51449 1.8.3.5 20588 protein-coding gene gene with protein product 610995 NA 10585463, 12186880 Standard NM_016297 NM_016297 NA Approved KIAA0908, PCL1 uc002sgn.4 Q9UHG3 OTTHUMG00000129671 ENST00000264441.5:c.*1734G>A chr2.hg19:g.70505908G>A NA B2RB14|B7Z9P8|O94982|Q8N4N5|Q96QM8 hg19 0.02 3.918226 TGTxCAA COVERED NOVEL PCYOX1-002 PUTATIVE not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000331593.2 2 3.645396 KEEP 0 1 31 23 809 GG 0.999909 0.999909 0 + 8 60 265 0 0 17.249912 124 60 4680 191 ENST00000264441.5 0.060606 1 CLEC4F 165530 __UNKNOWN__ __UNKNOWN__ 2 71036082 71036082 __UNKNOWN__ 3'UTR SNP G G A rs2287100 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:71036082G>A ENST00000426626.1 - 0 1874 CLEC4F_ENST00000272367.2_3'UTR Q8N1N0 CLC4F_HUMAN C-type lectin domain family 4, member F NA NA endocytosis (GO:0006897) integral component of membrane (GO:0016021) carbohydrate binding (GO:0030246) endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2) 37 CCTGGCCCATGGGCTTCTTGC 0.592 NA G||| 722 0.144169 0.2209 0.0764 5008 , , NA 21133 0.2391 NA 0.0577 False NA ,,, NA NA NA 2504 0.0798 NA NA NA Colon(107;10 2157 6841 26035) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK096429 CCDS1910.1 2p13.3 2008-02-05 2005-02-09 2005-02-11 ENSG00000152672 ENSG00000152672 165530 C-type lectin domain containing 25357 protein-coding gene gene with protein product C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13 CLECSF13 NA 8889548, 1846367 Standard NM_173535 NM_001258027 NA Approved FLJ39110, KCLR uc002shf.3 Q8N1N0 OTTHUMG00000129713 ENST00000426626.1:c.*147C>T chr2.hg19:g.71036082G>A NA A4QPA5 hg19 0.02 7.877255 CATxGGC COVERED NOVEL CLEC4F-002 PUTATIVE basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000330185.2 3 4.213825 KEEP 0 0 0 14 501 GG 0.995343 0.995343 0 - 20 60 670 0 0 46.398083 228 60 8541 286 ENST00000426626.1 0.080645 1 CD207 50489 __UNKNOWN__ __UNKNOWN__ 2 71058230 71058230 __UNKNOWN__ Missense_Mutation SNP T T A rs57302492 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:71058230T>A ENST00000410009.3 - 6 983 c.938A>T c.(937-939)aAa>aTa p.K313I NM_015717.3 NP_056532 Q9UJ71 CLC4K_HUMAN CD207 molecule, langerin 313 C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}. NA antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|defense response to virus (GO:0051607) clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) carbohydrate binding (GO:0030246)|mannose binding (GO:0005537) endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1) 20 AAGAAACGTTTTGTCACATGG 0.483 NA t||| 649 0.129593 0.2179 0.0533 5008 , , NA 18442 0.1369 NA 0.0616 False NA ,,, NA NA NA 2504 0.1268 NA NA NA NA 0 A ILE/LYS 622,3278 48,526,1376 123 116 118 938 -7.9 0 2 dbSNP_129 118 435,7839 15,405,3717 yes missense CD207 NM_015717.3 102 63,931,5093 AA,AT,TT 5.2574,15.9487,8.6824 benign 313/329 71058230 1057,11117 1950 4137 6087 SO:0001583 missense AJ242859 CCDS74520.1 2p13 2011-08-30 2006-03-28 ENSG00000116031 ENSG00000116031 50489 C-type lectin domain containing, CD molecules 17935 protein-coding gene gene with protein product 604862 CD207 antigen, langerin NA 10661407, 9847074 Standard NM_015717 NM_015717 NA Approved Langerin, CLEC4K uc002shg.3 Q9UJ71 OTTHUMG00000153176 ENST00000410009.3:c.938A>T chr2.hg19:g.71058230T>A ENSP00000386378:p.Lys313Ile NA hg19 0.02 10.569157 GTTxTGT COVERED 233 0.10668498168498168 95 0.19308943089430894 23 0.06353591160220995 67 0.11713286713286714 48 0.0633245382585752 t 3.826 -0.036723 0.07497 0.159487 0.052574 ENSG00000116031 ENST00000410009 T 0.20069 2.1 3.94 -7.87 0.01183 C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3); 2.255640 0.01467 N 0.016115 T 0.00012 0.0000 N 0.17594 0.5 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.19257 -1.0311 9 0.22706 T 0.39 . 2.4443 0.04502 0.5165:0.2239:0.1049:0.1546 rs57302492 313 Q9UJ71 CLC4K_HUMAN I 313 ENSP00000386378:K313I ENSP00000386378:K313I K - 2 0 CD207 70911738 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -4.723000 0.00194 -2.816000 0.00345 -3.723000 0.00023 AAA NOVEL CD207-001 KNOWN non_canonical_conserved|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000329959.4 3 9.328466 KEEP 0 0 0 31 997 TT 0.999997 0.999997 0 - 11 60 395 0 0 24.394687 282 60 10148 371 ENST00000410009.3 0.037543 1 CD207 50489 __UNKNOWN__ __UNKNOWN__ 2 71058906 71058906 __UNKNOWN__ Silent SNP G G T rs3213749 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:71058906G>T ENST00000410009.3 - 5 807 c.762C>A c.(760-762)ggC>ggA p.G254G NM_015717.3 NP_056532 Q9UJ71 CLC4K_HUMAN CD207 molecule, langerin 254 C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}. NA antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|defense response to virus (GO:0051607) clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) carbohydrate binding (GO:0030246)|mannose binding (GO:0005537) endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1) 20 CTTTAGTCAGGCCAATCCAGT 0.542 NA G||| 648 0.129393 0.2179 0.0504 5008 , , NA 20026 0.1379 NA 0.0616 False NA ,,, NA NA NA 2504 0.1268 NA NA NA NA 0 G 622,3384 48,526,1429 129 133 132 762 0.4 1 2 dbSNP_106 132 432,7896 14,404,3746 no coding-synonymous CD207 NM_015717.3 62,930,5175 TT,TG,GG 5.1873,15.5267,8.5455 254/329 71058906 1054,11280 2003 4164 6167 SO:0001819 synonymous_variant AJ242859 CCDS74520.1 2p13 2011-08-30 2006-03-28 ENSG00000116031 ENSG00000116031 50489 C-type lectin domain containing, CD molecules 17935 protein-coding gene gene with protein product 604862 CD207 antigen, langerin NA 10661407, 9847074 Standard NM_015717 NM_015717 NA Approved Langerin, CLEC4K uc002shg.3 Q9UJ71 OTTHUMG00000153176 ENST00000410009.3:c.762C>A chr2.hg19:g.71058906G>T NA hg19 0.02 8.16814 CAGxCCA COVERED NOVEL CD207-001 KNOWN non_canonical_conserved|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000329959.4 1 8.401082 KEEP 0 0 0 28 983 GG 0.999997 0.999997 0 - 10 60 351 0 0 22.318998 205 60 7584 314 ENST00000410009.3 0.046512 1 CD207 50489 __UNKNOWN__ __UNKNOWN__ 2 71061001 71061001 __UNKNOWN__ Missense_Mutation SNP T T A rs72836219 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:71061001T>A ENST00000410009.3 - 3 386 c.341A>T c.(340-342)gAg>gTg p.E114V NM_015717.3 NP_056532 Q9UJ71 CLC4K_HUMAN CD207 molecule, langerin 114 NA antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|defense response to virus (GO:0051607) clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) carbohydrate binding (GO:0030246)|mannose binding (GO:0005537) endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1) 20 ACCCAGGCTCTCATTCACCAT 0.473 NA A||| 700 0.139776 0.2156 0.0504 5008 , , NA 19876 0.1379 NA 0.0974 False NA ,,, NA NA NA 2504 0.1462 NA NA NA NA 0 A VAL/GLU 634,3454 44,546,1454 102 94 97 341 -4.2 0 2 dbSNP_130 97 652,7744 26,600,3572 yes missense CD207 NM_015717.3 121 70,1146,5026 AA,AT,TT 7.7656,15.5088,10.3012 benign 114/329 71061001 1286,11198 2044 4198 6242 SO:0001583 missense AJ242859 CCDS74520.1 2p13 2011-08-30 2006-03-28 ENSG00000116031 ENSG00000116031 50489 C-type lectin domain containing, CD molecules 17935 protein-coding gene gene with protein product 604862 CD207 antigen, langerin NA 10661407, 9847074 Standard NM_015717 NM_015717 NA Approved Langerin, CLEC4K uc002shg.3 Q9UJ71 OTTHUMG00000153176 ENST00000410009.3:c.341A>T chr2.hg19:g.71061001T>A ENSP00000386378:p.Glu114Val NA hg19 0.02 8.957007 CTCxCAT COVERED 259 0.11858974358974358 93 0.18902439024390244 21 0.058011049723756904 67 0.11713286713286714 78 0.10290237467018469 A 5.496 0.276461 0.10403 0.155088 0.077656 ENSG00000116031 ENST00000410009 T 0.32023 1.47 4.23 -4.19 0.03835 . 0.833363 0.10541 N 0.662633 T 0.00012 0.0000 N 0.08118 0 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.32903 -0.9889 9 0.32370 T 0.25 . 0.3044 0.00278 0.3481:0.2477:0.1547:0.2495 . 114 Q9UJ71 CLC4K_HUMAN V 114 ENSP00000386378:E114V ENSP00000386378:E114V E - 2 0 CD207 70914509 0.076000 0.21285 0.000000 0.03702 0.001000 0.01503 -0.277000 0.08502 -1.264000 0.02452 -1.220000 0.01600 GAG NOVEL CD207-001 KNOWN non_canonical_conserved|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000329959.4 1 7.824361 KEEP 0 0 0 26 852 TT 0.999957 0.999957 0 - 7 60 262 0 0 16.131455 209 60 7570 283 ENST00000410009.3 0.032407 1 NAGK 55577 __UNKNOWN__ __UNKNOWN__ 2 71297982 71297982 __UNKNOWN__ Intron SNP C C T rs2287327 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:71297982C>T ENST00000418807.3 + 2 224 NAGK_ENST00000428360.2_Intron|NAGK_ENST00000443938.2_Intron|NAGK_ENST00000443872.2_Intron|NAGK_ENST00000244204.6_Intron|NAGK_ENST00000455662.2_Intron Q9UJ70 NAGK_HUMAN N-acetylglucosamine kinase NA NA carbohydrate phosphorylation (GO:0046835)|N-acetylglucosamine metabolic process (GO:0006044)|N-acetylmannosamine metabolic process (GO:0006051)|N-acetylneuraminate catabolic process (GO:0019262) extracellular vesicular exosome (GO:0070062) ATP binding (GO:0005524)|N-acetylglucosamine kinase activity (GO:0045127) breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|urinary_tract(1) 18 N-Acetyl-D-glucosamine(DB00141) GAGTCTGGGGCGGAGCCTGGG 0.527 NA OREG0014689 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) T||| 2186 0.436502 0.5613 0.353 5008 , , NA 20963 0.3978 NA 0.2992 False NA ,,, NA NA NA 2504 0.5082 NA NA NA NA 0 T 2338,2068 570.2+/-382.8 627,1084,492 80 78 79 -2.2 0 2 dbSNP_100 79 2805,5795 675.8+/-403.2 475,1855,1970 no intron NAGK NM_017567.4 1102,2939,2462 TT,TC,CC 32.6163,46.936,39.5433 71297982 5143,7863 2203 4300 6503 SO:0001627 intron_variant AJ242910 CCDS33220.1, CCDS33220.2 2p24.3-p24.1 2008-02-05 ENSG00000124357 ENSG00000124357 55577 2.7.1.59 17174 protein-coding gene gene with protein product 606828 NA 10824116 Standard NM_017567 NA Approved GNK uc002shp.4 Q9UJ70 OTTHUMG00000153239 ENST00000418807.3:c.60+13C>T chr2.hg19:g.71297982C>T 1128 B4DLZ5|Q53HD5|Q6IA84|Q9BS29|Q9BVP0|Q9NV37 hg19 0.02 23.443293 GGGxGGA COVERED NOVEL NAGK-002 PUTATIVE not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000330337.6 3 50.025571 KEEP 0 2 56 186 6377 CC 1 1 0 + 16 60 578 0 0 33.472942 580 60 19679 961 ENST00000418807.3 0.026846 1 NAGK 55577 __UNKNOWN__ __UNKNOWN__ 2 71305812 71305812 __UNKNOWN__ 3'UTR SNP A A C rs77436320 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:71305812A>C ENST00000418807.3 + 0 1220 NAGK_ENST00000455662.2_3'UTR Q9UJ70 NAGK_HUMAN N-acetylglucosamine kinase NA NA carbohydrate phosphorylation (GO:0046835)|N-acetylglucosamine metabolic process (GO:0006044)|N-acetylmannosamine metabolic process (GO:0006051)|N-acetylneuraminate catabolic process (GO:0019262) extracellular vesicular exosome (GO:0070062) ATP binding (GO:0005524)|N-acetylglucosamine kinase activity (GO:0045127) breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|urinary_tract(1) 18 N-Acetyl-D-glucosamine(DB00141) GTACATCCTCAGTGCACCTGC 0.433 NA A||| 661 0.131989 0.0257 0.0706 5008 , , NA 21312 0.4891 NA 0.0099 False NA ,,, NA NA NA 2504 0.0767 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ242910 CCDS33220.1, CCDS33220.2 2p24.3-p24.1 2008-02-05 ENSG00000124357 ENSG00000124357 55577 2.7.1.59 17174 protein-coding gene gene with protein product 606828 NA 10824116 Standard NM_017567 NA Approved GNK uc002shp.4 Q9UJ70 OTTHUMG00000153239 ENST00000418807.3:c.*174A>C chr2.hg19:g.71305812A>C NA B4DLZ5|Q53HD5|Q6IA84|Q9BS29|Q9BVP0|Q9NV37 hg19 0.02 24.725169 CTCxGTG COVERED NOVEL NAGK-002 PUTATIVE not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000330337.6 5 24.074264 KEEP 0 0 0 80 2581 AA 1 1 0 + 18 60 587 0 0 31.861924 636 60 23813 920 ENST00000418807.3 0.027523 1 NAGK 55577 __UNKNOWN__ __UNKNOWN__ 2 71306510 71306510 __UNKNOWN__ 3'UTR SNP C C T rs12615175 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:71306510C>T ENST00000418807.3 + 0 1918 Q9UJ70 NAGK_HUMAN N-acetylglucosamine kinase NA NA carbohydrate phosphorylation (GO:0046835)|N-acetylglucosamine metabolic process (GO:0006044)|N-acetylmannosamine metabolic process (GO:0006051)|N-acetylneuraminate catabolic process (GO:0019262) extracellular vesicular exosome (GO:0070062) ATP binding (GO:0005524)|N-acetylglucosamine kinase activity (GO:0045127) breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|urinary_tract(1) 18 N-Acetyl-D-glucosamine(DB00141) ACAGGAGTCTCGATCCACAAT 0.483 NA T||| 674 0.134585 0.0378 0.072 5008 , , NA 19582 0.4871 NA 0.0099 False NA ,,, NA NA NA 2504 0.0746 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ242910 CCDS33220.1, CCDS33220.2 2p24.3-p24.1 2008-02-05 ENSG00000124357 ENSG00000124357 55577 2.7.1.59 17174 protein-coding gene gene with protein product 606828 NA 10824116 Standard NM_017567 NA Approved GNK uc002shp.4 Q9UJ70 OTTHUMG00000153239 ENST00000418807.3:c.*872C>T chr2.hg19:g.71306510C>T NA B4DLZ5|Q53HD5|Q6IA84|Q9BS29|Q9BVP0|Q9NV37 hg19 0.02 9.61292 TCTxGAT COVERED NOVEL NAGK-002 PUTATIVE not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000330337.6 3 18.043765 KEEP 71 0 0 60 1970 CC 0.999999 0.999999 0 + 10 60 379 0 0 24.994761 211 60 7312 393 ENST00000418807.3 0.045249 1 MCEE 84693 __UNKNOWN__ __UNKNOWN__ 2 71351403 71351403 __UNKNOWN__ Missense_Mutation SNP C C A rs6748672 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:71351403C>A ENST00000244217.5 - 2 328 c.311G>T c.(310-312)cGt>cTt p.R104L NM_032601.3 NP_115990.3 Q96PE7 MCEE_HUMAN methylmalonyl CoA epimerase 104 NA R -> L (in dbSNP:rs6748672). {ECO:0000269|PubMed:15489334}. cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|L-methylmalonyl-CoA metabolic process (GO:0046491)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281) mitochondrial matrix (GO:0005759) metal ion binding (GO:0046872)|methylmalonyl-CoA epimerase activity (GO:0004493) kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 9 TGGACTGTCACGTCCCAATGG 0.428 NA C||| 1009 0.201478 0.2277 0.1729 5008 , , NA 17794 0.2282 NA 0.1342 False NA ,,, NA NA NA 2504 0.228 NA NA NA NA 0 C LEU/ARG 1003,3403 373.4+/-320.8 113,777,1313 80 76 77 311 -4.6 0 2 dbSNP_116 77 1449,7151 277.2+/-292.7 121,1207,2972 yes missense MCEE NM_032601.3 102 234,1984,4285 AA,AC,CC 16.8488,22.7644,18.8528 benign 104/177 71351403 2452,10554 2203 4300 6503 SO:0001583 missense AF364547 CCDS1915.1 2p13.3 2011-05-12 ENSG00000124370 ENSG00000124370 84693 5.1.99.1 16732 protein-coding gene gene with protein product glyoxalase domain containing 2 608419 NA 16697227, 16752391, 16843692 Standard NM_032601 NM_032601 NA Approved GLOD2 uc002shs.2 Q96PE7 OTTHUMG00000129709 ENST00000244217.5:c.311G>T chr2.hg19:g.71351403C>A ENSP00000244217:p.Arg104Leu NA Q53TP1|Q8WW63 hg19 CCDS1915.1 0.02 16.484958 TCAxGTC COVERED 377 0.17261904761904762 108 0.21951219512195122 61 0.1685082872928177 102 0.17832167832167833 106 0.13984168865435356 C 10.04 1.241494 0.22711 0.227644 0.168488 ENSG00000124370 ENST00000244217;ENST00000494660;ENST00000486135 T;T;T 0.64438 -0.1;-0.1;-0.1 5.38 -4.61 0.03380 Glyoxalase/fosfomycin resistance/dioxygenase (1); 0.710167 0.14406 N 0.321551 T 0.00012 0.0000 N 0.12746 0.255 0.80722 P 0.0 B 0.14438 0.01 B 0.10450 0.005 T 0.06698 -1.0812 9 0.62326 D 0.03 -12.157 6.8041 0.23768 0.1109:0.3619:0.0:0.5272 rs6748672;rs17851835;rs52804383;rs58491237;rs6748672 104 Q96PE7 MCEE_HUMAN L 104;9;9 ENSP00000244217:R104L;ENSP00000437361:R9L;ENSP00000441569:R9L ENSP00000244217:R104L R - 2 0 MCEE 71204911 0.658000 0.27402 0.000000 0.03702 0.217000 0.24651 0.803000 0.27083 -1.053000 0.03218 -0.259000 0.10710 CGT NOVEL MCEE-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251917.3 0 19.561009 KEEP 0 0 0 65 2220 CC 1 1 0 - 11 60 408 0 0 24.606889 356 60 12761 524 ENST00000244217.5 0.029973 1 MPHOSPH10 10199 __UNKNOWN__ __UNKNOWN__ 2 71360282 71360282 __UNKNOWN__ Missense_Mutation SNP G G A rs13010513 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:71360282G>A ENST00000244230.2 + 2 696 c.344G>A c.(343-345)cGt>cAt p.R115H MPHOSPH10_ENST00000468427.1_3'UTR|MPHOSPH10_ENST00000498451.2_Missense_Mutation_p.R115H NM_005791.2 NP_005782.1 O00566 MPP10_HUMAN M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein) 115 NA R -> H (in dbSNP:rs13010513). negative regulation of phosphatase activity (GO:0010923)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|rRNA processing (GO:0006364) chromosome (GO:0005694)|nucleolus (GO:0005730)|small nucleolar ribonucleoprotein complex (GO:0005732) poly(A) RNA binding (GO:0044822) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1) 26 GAACAGGAACGTGAAGAGGAT 0.403 NA G||| 957 0.191094 0.1891 0.1729 5008 , , NA 19641 0.2282 NA 0.1342 False NA ,,, NA NA NA 2504 0.227 NA NA NA NA 0 G HIS/ARG 862,3544 335.2+/-303.8 83,696,1424 71 69 70 344 2.8 0 2 dbSNP_121 70 1450,7150 276.9+/-292.6 121,1208,2971 yes missense MPHOSPH10 NM_005791.2 29 204,1904,4395 AA,AG,GG 16.8605,19.5642,17.7764 benign 115/682 71360282 2312,10694 2203 4300 6503 SO:0001583 missense X98494 CCDS1916.1 2p13.3 2014-06-12 ENSG00000124383 ENSG00000124383 10199 7213 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 106 605503 NA 8885239, 9450966 Standard NM_005791 NM_005791 NA Approved MPP10, MPP10P, CT90, PPP1R106 uc002sht.2 O00566 OTTHUMG00000129715 ENST00000244230.2:c.344G>A chr2.hg19:g.71360282G>A ENSP00000244230:p.Arg115His NA A0AVJ8 hg19 CCDS1916.1 0.02 23.071047 AACxTGA COVERED 365 0.1671245421245421 95 0.19308943089430894 61 0.1685082872928177 103 0.18006993006993008 106 0.13984168865435356 G 5.476 0.272902 0.10349 0.195642 0.168605 ENSG00000124383 ENST00000244230 T 0.10288 2.89 4.61 2.81 0.32909 . 0.722586 0.14295 N 0.328668 T 0.00012 0.0000 N 0.14661 0.345 0.29172 P 0.877071 P;P 0.40250 0.709;0.455 B;B 0.28638 0.092;0.083 T 0.47302 -0.9128 9 0.45353 T 0.12 . 5.0267 0.14389 0.1887:0.1724:0.6389:0.0 rs13010513;rs52815322;rs13010513 115;115 B3KPV5;O00566 .;MPP10_HUMAN H 115 ENSP00000244230:R115H ENSP00000244230:R115H R + 2 0 MPHOSPH10 71213790 0.137000 0.22531 0.003000 0.11579 0.632000 0.37999 0.394000 0.20834 0.696000 0.31696 -0.228000 0.12330 CGT NOVEL MPHOSPH10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251924.2 3 25.751634 KEEP 0 2 67 109 3733 GG 1 1 0 + 16 60 586 0 0 34.577372 554 60 19562 824 ENST00000244230.2 0.02807 1 MPHOSPH10 10199 __UNKNOWN__ __UNKNOWN__ 2 71366957 71366957 __UNKNOWN__ Missense_Mutation SNP C C A rs3732240 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:71366957C>A ENST00000244230.2 + 6 1625 c.1273C>A c.(1273-1275)Ctg>Atg p.L425M NM_005791.2 NP_005782.1 O00566 MPP10_HUMAN M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein) 425 NA L -> M (in dbSNP:rs3732240). negative regulation of phosphatase activity (GO:0010923)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|rRNA processing (GO:0006364) chromosome (GO:0005694)|nucleolus (GO:0005730)|small nucleolar ribonucleoprotein complex (GO:0005732) poly(A) RNA binding (GO:0044822) p.L425M(1) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1) 26 CACCCTTCAACTGGAAGATAT 0.343 NA C||| 584 0.116613 0.0015 0.0735 5008 , , NA 22147 0.4345 NA 0.0159 False NA ,,, NA NA NA 2504 0.0787 NA NA NA NA 1 Substitution - Missense(1) stomach(1) C MET/LEU 28,4378 34.3+/-65.2 0,28,2175 138 141 140 1273 5.3 0.7 2 dbSNP_107 140 122,8478 63.1+/-125.2 0,122,4178 yes missense MPHOSPH10 NM_005791.2 15 0,150,6353 AA,AC,CC 1.4186,0.6355,1.1533 probably-damaging 425/682 71366957 150,12856 2203 4300 6503 SO:0001583 missense X98494 CCDS1916.1 2p13.3 2014-06-12 ENSG00000124383 ENSG00000124383 10199 7213 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 106 605503 NA 8885239, 9450966 Standard NM_005791 NM_005791 NA Approved MPP10, MPP10P, CT90, PPP1R106 uc002sht.2 O00566 OTTHUMG00000129715 ENST00000244230.2:c.1273C>A chr2.hg19:g.71366957C>A ENSP00000244230:p.Leu425Met NA A0AVJ8 hg19 CCDS1916.1 0.02 3.886069 CAAxTGG COVERED 287 0.13141025641025642 1 0.0020325203252032522 22 0.06077348066298342 251 0.4388111888111888 13 0.017150395778364115 C 23.8 4.464524 0.84425 0.006355 0.014186 ENSG00000124383 ENST00000244230;ENST00000425650 T;T 0.22134 1.97;1.97 5.33 5.33 0.75918 . 0.000000 0.85682 D 0.000000 T 0.00012 0.0000 M 0.82517 2.595 0.09310 P 0.999999709811 D 0.89917 1.0 D 0.87578 0.998 T 0.42413 -0.9453 9 0.66056 D 0.02 . 16.8902 0.86085 0.0:1.0:0.0:0.0 rs3732240;rs17006677;rs3732240 425 O00566 MPP10_HUMAN M 425;285 ENSP00000244230:L425M;ENSP00000393034:L285M ENSP00000244230:L425M L + 1 2 MPHOSPH10 71220465 1.000000 0.71417 0.736000 0.30914 0.989000 0.77384 5.452000 0.66638 2.669000 0.90835 0.585000 0.79938 CTG NOVEL MPHOSPH10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251924.2 1 4.514245 KEEP 0 0 0 15 498 CC 0.99649 0.996486 0 + 6 60 213 0 0 13.983361 107 60 3866 131 ENST00000244230.2 0.053097 0.999995 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 71409237 71409237 __UNKNOWN__ IGR SNP A A C rs411758 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:71409237A>C NA NA MPHOSPH10 (32006 upstream) : PAIP2B (631 downstream) NA NA NA GCAGCTTTGTAAATGGAGACA 0.488 NA A||| 615 0.122804 0.0787 0.0922 5008 , , NA 19830 0.1369 NA 0.1412 False NA ,,, NA NA NA 2504 0.1708 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.71409237A>C NA hg19 0.02 2.399611 TGTxAAT COVERED NOVEL 0 0 3.008821 KEEP 0 0 0 10 308 AA 0.992708 0.987827 0 5 60 193 0 0 13.997152 61 60 2205 91 0.075758 0.995084 PAIP2B 400961 __UNKNOWN__ __UNKNOWN__ 2 71411913 71411913 __UNKNOWN__ 3'UTR SNP C C T rs61447668 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:71411913C>T ENST00000244221.8 - 0 4234 NM_020459.1 NP_065192.1 Q9ULR5 PAI2B_HUMAN poly(A) binding protein interacting protein 2B NA NA negative regulation of translational initiation (GO:0045947) cytoplasm (GO:0005737) translation repressor activity, nucleic acid binding (GO:0000900) large_intestine(1)|lung(1) 2 CCACCCACTTCGCAAACTAAT 0.502 NA C||| 764 0.152556 0.0166 0.1239 5008 , , NA 17240 0.5437 NA 0.0278 False NA ,,, NA NA NA 2504 0.0818 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS46322.1 2p13.3 2007-07-16 ENSG00000124374 ENSG00000124374 400961 29200 protein-coding gene gene with protein product 611018 NA 16804161 Standard XM_376062 NM_020459 NA Approved KIAA1155 uc002shu.2 Q9ULR5 OTTHUMG00000153284 ENST00000244221.8:c.*3696G>A chr2.hg19:g.71411913C>T NA hg19 CCDS46322.1 0.02 30.744538 CTTxGCA COVERED NOVEL PAIP2B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000330547.2 3 27.085218 KEEP 18 0 0 90 3031 CC 1 1 0 - 27 50 958 0 0 58.932425 700 60 25104 1028 ENST00000244221.8 0.037139 1 ZNF638 27332 __UNKNOWN__ __UNKNOWN__ 2 71620563 71620563 __UNKNOWN__ Intron SNP A A G rs12713748 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:71620563A>G ENST00000409544.1 + 11 3007 ZNF638_ENST00000355812.3_Intron|ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000264447.4_Intron NM_001252612.1 NP_001239541.1 Q14966 ZN638_HUMAN zinc finger protein 638 NA NA regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 63 agaccataccatggcgtggct 0.527 NA A||| 570 0.113818 0.1248 0.0576 5008 , , NA 17076 0.1558 NA 0.0805 False NA ,,, NA NA NA 2504 0.1299 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D83032 CCDS1917.1 2p13.1 2013-02-12 2004-07-29 2004-07-30 ENSG00000075292 ENSG00000075292 27332 RNA binding motif (RRM) containing 17894 protein-coding gene gene with protein product 614349 zinc finger, matrin-like ZFML NA 8647861 Standard NM_014497 NM_014497 NA Approved NP220, MGC26130, Zfp638 uc002shy.3 Q14966 OTTHUMG00000129735 ENST00000409544.1:c.2378-2708A>G chr2.hg19:g.71620563A>G NA B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37 hg19 CCDS1917.1 0.02 8.143709 ACCxTGG COVERED 222 0.10164835164835165 53 0.10772357723577236 28 0.07734806629834254 77 0.1346153846153846 64 0.08443271767810026 A 2.071 -0.413071 0.04799 . . ENSG00000075292 ENST00000410075;ENST00000544512 T;T 0.71579 0.02;-0.58 0.149 0.149 0.14863 . . . . . T 0.00440 0.0014 . . . 0.54753 P 1.3000000000040757E-5 . . . . . . T 0.10222 -1.0639 4 0.02654 T 1 . . . . rs12713748;rs12713748 946 F5H330 . V 840;946 ENSP00000386669:M840V;ENSP00000438189:M946V ENSP00000386669:M840V M + 1 0 ZNF638 71474071 0.145000 0.22656 0.249000 0.24280 0.252000 0.25951 0.241000 0.18065 0.166000 0.19597 0.164000 0.16699 ATG NOVEL ZNF638-002 NOVEL alternative_5_UTR|basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000327431.1 1 15.479788 KEEP 0 1 33 63 1975 AA 1 1 0 + 10 60 350 0 0 21.940796 219 60 7964 381 ENST00000409544.1 0.043668 1 ZNF638 27332 __UNKNOWN__ __UNKNOWN__ 2 71654175 71654175 __UNKNOWN__ Missense_Mutation SNP G G A rs1804020 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:71654175G>A ENST00000409544.1 + 24 5806 c.5176G>A c.(5176-5178)Gtg>Atg p.V1726M ZNF638_ENST00000355812.3_3'UTR|ZNF638_ENST00000409407.1_Missense_Mutation_p.V666M|ZNF638_ENST00000264447.4_Missense_Mutation_p.V1726M NM_001252612.1 NP_001239541.1 Q14966 ZN638_HUMAN zinc finger protein 638 1726 NA V -> M (in dbSNP:rs1804020). {ECO:0000269|PubMed:17974005}. regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 63 TTCTTCTCAGGTGCCCGAAGA 0.383 NA A||| 1719 0.343251 0.2262 0.2435 5008 , , NA 19941 0.7034 NA 0.2376 False NA ,,, NA NA NA 2504 0.3098 NA NA NA NA 0 A MET/VAL,MET/VAL 1105,3301 720.2+/-409.0 146,813,1244 122 125 124 5176,5176 3.3 1 2 dbSNP_89 124 2047,6553 719.4+/-406.3 260,1527,2513 yes missense,missense ZNF638 NM_001014972.1,NM_014497.3 21,21 406,2340,3757 AA,AG,GG 23.8023,25.0794,24.235 benign,benign 1726/1979,1726/1979 71654175 3152,9854 2203 4300 6503 SO:0001583 missense D83032 CCDS1917.1 2p13.1 2013-02-12 2004-07-29 2004-07-30 ENSG00000075292 ENSG00000075292 27332 RNA binding motif (RRM) containing 17894 protein-coding gene gene with protein product 614349 zinc finger, matrin-like ZFML NA 8647861 Standard NM_014497 NM_014497 NA Approved NP220, MGC26130, Zfp638 uc002shy.3 Q14966 OTTHUMG00000129735 ENST00000409544.1:c.5176G>A chr2.hg19:g.71654175G>A ENSP00000386433:p.Val1726Met NA B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37 hg19 CCDS1917.1 0.02 20.203388 CAGxTGC COVERED 753 0.3447802197802198 101 0.20528455284552846 93 0.2569060773480663 376 0.6573426573426573 183 0.24142480211081793 A 1.046 -0.677433 0.03378 0.250794 0.238023 ENSG00000075292 ENST00000264447;ENST00000409544;ENST00000409407 T;T;T 0.30448 1.53;1.53;1.94 5.85 3.35 0.38373 . 0.089095 0.49916 N 0.000133 T 0.00012 0.0000 N 0.08118 0 0.09310 P 0.99999999834298 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.37220 -0.9715 9 0.19590 T 0.45 -6.9875 5.2117 0.15320 0.6696:0.1557:0.1747:0.0 rs1804020;rs3198783;rs57778009;rs1804020 1726;1726 Q14966-3;Q14966 .;ZN638_HUMAN M 1726;1726;666 ENSP00000264447:V1726M;ENSP00000386433:V1726M;ENSP00000386813:V666M ENSP00000264447:V1726M V + 1 0 ZNF638 71507683 0.993000 0.37304 1.000000 0.80357 0.957000 0.61999 0.199000 0.17237 1.048000 0.40298 -0.254000 0.11334 GTG NOVEL ZNF638-002 NOVEL alternative_5_UTR|basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000327431.1 3 16.621069 KEEP 0 3 93 88 3027 GG 1 1 0 + 29 60 1066 0 0 73.288033 437 60 15888 647 ENST00000409544.1 0.062232 1 ZNF638 27332 __UNKNOWN__ __UNKNOWN__ 2 71654450 71654450 __UNKNOWN__ Silent SNP A A G rs60163900 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:71654450A>G ENST00000409544.1 + 24 6081 c.5451A>G c.(5449-5451)aaA>aaG p.K1817K ZNF638_ENST00000355812.3_3'UTR|ZNF638_ENST00000409407.1_Silent_p.K757K|ZNF638_ENST00000264447.4_Silent_p.K1817K NM_001252612.1 NP_001239541.1 Q14966 ZN638_HUMAN zinc finger protein 638 1817 NA regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 63 TGGACACAAAAAAGACAAAAC 0.353 NA A||| 591 0.118011 0.1369 0.0576 5008 , , NA 17859 0.1617 NA 0.0795 False NA ,,, NA NA NA 2504 0.1299 NA NA NA NA 0 A , 621,3785 257.0+/-261.6 46,529,1628 74 76 75 5451,5451 3.3 1 2 dbSNP_129 75 782,7818 179.3+/-228.5 41,700,3559 no coding-synonymous,coding-synonymous ZNF638 NM_001014972.1,NM_014497.3 , 87,1229,5187 GG,GA,AA 9.093,14.0944,10.7873 , 1817/1979,1817/1979 71654450 1403,11603 2203 4300 6503 SO:0001819 synonymous_variant D83032 CCDS1917.1 2p13.1 2013-02-12 2004-07-29 2004-07-30 ENSG00000075292 ENSG00000075292 27332 RNA binding motif (RRM) containing 17894 protein-coding gene gene with protein product 614349 zinc finger, matrin-like ZFML NA 8647861 Standard NM_014497 NM_014497 NA Approved NP220, MGC26130, Zfp638 uc002shy.3 Q14966 OTTHUMG00000129735 ENST00000409544.1:c.5451A>G chr2.hg19:g.71654450A>G NA B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37 hg19 CCDS1917.1 0.02 2.036464 AAAxAAG COVERED NOVEL ZNF638-002 NOVEL alternative_5_UTR|basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000327431.1 2 3.945811 KEEP 0 1 31 24 750 AA 0.999931 0.99987 0 + 5 60 186 1 0 12.434617 92 60 3292 144 ENST00000409544.1 0.051546 0.99994 DYSF 8291 __UNKNOWN__ __UNKNOWN__ 2 71680950 71680950 __UNKNOWN__ 5'UTR SNP C C A rs6741336 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:71680950C>A ENST00000258104.3 + 0 99 DYSF_ENST00000413539.2_5'UTR|DYSF_ENST00000409582.3_5'UTR|DYSF_ENST00000409762.1_5'UTR|DYSF_ENST00000429174.2_5'UTR NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin NA NA plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906) cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315) calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543) autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 ACTGGAGCAGCCGGGGGTGGC 0.687 NA C||| 1026 0.204872 0.2345 0.098 5008 , , NA 11928 0.4405 NA 0.0706 False NA ,,, NA NA NA 2504 0.136 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF075575 CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1 2p13.3 2014-09-17 2013-09-12 ENSG00000135636 ENSG00000135636 8291 3097 protein-coding gene gene with protein product fer-1-like family member 1 603009 limb girdle muscular dystrophy 2B (autosomal recessive) LGMD2B NA 8320700 Standard NM_003494 NM_003494 NA Approved FER1L1 uc010fen.3 O75923 OTTHUMG00000129757 ENST00000258104.3:c.-179C>A chr2.hg19:g.71680950C>A NA A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7 hg19 CCDS1918.1 0.02 5.53809 CAGxCGG COVERED NOVEL DYSF-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000251970.3 1 16.251765 KEEP 0 0 0 54 1916 CC 1 1 0 + 11 60 362 0 0 23.972758 152 60 5430 265 ENST00000258104.3 0.067485 1 SFXN5 94097 __UNKNOWN__ __UNKNOWN__ 2 73226090 73226090 __UNKNOWN__ Silent SNP G G A rs12233055 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:73226090G>A ENST00000272433.2 - 9 652 c.522C>T c.(520-522)gcC>gcT p.A174A SFXN5_ENST00000410065.1_Silent_p.A174A|SFXN5_ENST00000474528.1_5'UTR NM_144579.2 NP_653180.1 Q8TD22 SFXN5_HUMAN sideroflexin 5 174 NA iron ion homeostasis (GO:0055072) integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743) cation transmembrane transporter activity (GO:0008324)|citrate transmembrane transporter activity (GO:0015137) breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1) 9 CAATGGAGACGGCGCTGATGA 0.592 NA g||| 1689 0.33726 0.4259 0.2795 5008 , , NA 20111 0.4931 NA 0.2197 False NA ,,, NA NA NA 2504 0.2188 NA NA NA NA 0 A 1841,2565 532.6+/-373.5 402,1037,764 112 101 105 522 -12.1 0.3 2 dbSNP_120 105 1897,6703 334.0+/-320.8 200,1497,2603 no coding-synonymous SFXN5 NM_144579.2 602,2534,3367 AA,AG,GG 22.0581,41.7839,28.7406 174/341 73226090 3738,9268 2203 4300 6503 SO:0001819 synonymous_variant AY044437 CCDS1922.1 2p13 2008-05-21 ENSG00000144040 ENSG00000144040 94097 Sideroflexins 16073 protein-coding gene gene with protein product 615572 NA 12039050, 12150972 Standard NM_144579 XM_005264648 NA Approved BBG-TCC uc002siq.3 Q8TD22 OTTHUMG00000129775 ENST00000272433.2:c.522C>T chr2.hg19:g.73226090G>A NA A8K116|Q494Y3|Q53T29 hg19 CCDS1922.1 0.02 4.787139 GACxGCG COVERED 772 0.3534798534798535 219 0.4451219512195122 100 0.27624309392265195 280 0.48951048951048953 173 0.22823218997361477 g 8.569 0.879549 0.17467 0.417839 0.220581 ENSG00000144040 ENST00000411783 . . . 6.07 -12.1 0.00011 . . . . . T 0.00012 0.0000 . . . 0.09310 P 0.999999129714 . . . . . . T 0.10776 -1.0615 3 . . . -7.2324 12.5892 0.56434 0.7043:0.1036:0.1921:0.0 rs12233055;rs12233055 . . . C 164 . . R - 1 0 SFXN5 73079598 0.011000 0.17503 0.287000 0.24848 0.837000 0.47467 -1.585000 0.02112 -2.225000 0.00724 -2.203000 0.00303 CGT NOVEL SFXN5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251991.1 1 7.524048 KEEP 0 0 0 25 858 GG 0.999931 0.99993 0 - 9 60 338 0 0 24.083816 115 60 3941 189 ENST00000272433.2 0.072581 0.999999 RAB11FIP5 26056 __UNKNOWN__ __UNKNOWN__ 2 73301817 73301817 __UNKNOWN__ 3'UTR SNP T T C rs1046183 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:73301817T>C ENST00000258098.6 - 0 3034 RAB11FIP5_ENST00000493523.2_5'UTR NM_015470.2 NP_056285.1 Q9BXF6 RFIP5_HUMAN RAB11 family interacting protein 5 (class I) NA NA cellular response to acidic pH (GO:0071468)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|regulation of protein localization to cell surface (GO:2000008) early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|recycling endosome (GO:0055037)|secretory granule (GO:0030141) gamma-tubulin binding (GO:0043015) biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 23 GCAACAAGAATAGACATGGAG 0.498 NA T||| 973 0.194289 0.0787 0.196 5008 , , NA 20252 0.4028 NA 0.1531 False NA ,,, NA NA NA 2504 0.1769 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF334812 CCDS1923.1 2p13 2008-02-05 ENSG00000135631 ENSG00000135631 26056 24845 protein-coding gene gene with protein product 605536 NA 10048485, 11163216 Standard NM_015470 NM_015470 NA Approved GAF1, KIAA0857, RIP11, pp75 uc002sis.4 Q9BXF6 OTTHUMG00000129779 ENST00000258098.6:c.*832A>G chr2.hg19:g.73301817T>C NA O94939|Q9P0M1 hg19 CCDS1923.1 0.02 10.893919 GAAxAGA COVERED NOVEL RAB11FIP5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251995.1 1 21.663299 KEEP 0 0 0 72 2220 TT 1 1 0 - 8 60 298 0 0 18.163757 248 60 9037 407 ENST00000258098.6 0.03125 1 DUSP11 8446 __UNKNOWN__ __UNKNOWN__ 2 73995419 73995419 __UNKNOWN__ Intron SNP T T C rs34737250 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:73995419T>C ENST00000272444.3 - 5 677 DUSP11_ENST00000443070.1_3'UTR|DUSP11_ENST00000480948.1_Intron NM_003584.2 NP_003575.2 O75319 DUS11_HUMAN dual specificity phosphatase 11 (RNA/RNP complex 1-interacting) NA NA peptidyl-tyrosine dephosphorylation (GO:0035335)|polynucleotide 5' dephosphorylation (GO:0098507)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396) nucleus (GO:0005634) nucleotide phosphatase activity, acting on free nucleotides (GO:0098519)|phosphatase activity (GO:0016791)|poly(A) RNA binding (GO:0044822)|polynucleotide 5'-phosphatase activity (GO:0004651)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA binding (GO:0003723) breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|skin(1) 12 cttgttggaattgtaattgta 0.443 NA t||| 154 0.0307508 0.0008 0.1124 5008 , , NA 20585 0.0665 NA 0.002 False NA ,,, NA NA NA 2504 0.0061 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF023917 CCDS1928.2 2p13.1 2011-06-09 ENSG00000144048 ENSG00000144048 8446 Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases 3066 protein-coding gene gene with protein product 603092 NA 9685386 Standard NM_003584 NA Approved PIR1 uc002sjp.3 O75319 OTTHUMG00000129816 ENST00000272444.3:c.635+972A>G chr2.hg19:g.73995419T>C NA B2RCT8|Q6AI47|Q9BWE3 hg19 CCDS1928.2 0.02 18.250547 GAAxTGT COVERED NOVEL DUSP11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252047.3 4 24.323454 KEEP 0 0 0 81 2527 TT 1 1 0 - 14 60 536 0 0 33.360726 425 60 15291 596 ENST00000272444.3 0.031891 1 STAMBP 10617 __UNKNOWN__ __UNKNOWN__ 2 74092829 74092829 __UNKNOWN__ 3'UTR SNP G G A rs72917409 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:74092829G>A ENST00000394070.2 + 0 5221 STAMBP_ENST00000409707.1_Intron NM_213622.2 NP_998787.1 O95630 STABP_HUMAN STAM binding protein NA NA JAK-STAT cascade (GO:0007259)|mitotic cytokinesis (GO:0000281)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of cell proliferation (GO:0008284)|protein deubiquitination (GO:0016579) cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886) metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|ubiquitin-specific protease activity (GO:0004843) NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 18 tgaggcctacgttagttgaaa 0.363 NA G||| 364 0.0726837 0.0998 0.1282 5008 , , NA 22084 0.0724 NA 0.0398 False NA ,,, NA NA NA 2504 0.0307 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC007682 CCDS1929.1 2p24.3-p24.1 2008-02-05 ENSG00000124356 ENSG00000124356 10617 16950 protein-coding gene gene with protein product 606247 NA 10383417 Standard NM_006463 NM_006463 NA Approved AMSH uc002sjs.3 O95630 OTTHUMG00000129817 ENST00000394070.2:c.*3443G>A chr2.hg19:g.74092829G>A NA B5M0B6|D6W5H7|Q3MJE7 hg19 CCDS1929.1 0.02 6.445973 TACxTTA COVERED NOVEL STAMBP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252048.2 2 3.644976 KEEP 0 1 22 20 682 GG 0.999869 0.999869 0 + 9 60 325 0 0 21.441276 164 60 5874 228 ENST00000394070.2 0.052023 1 STAMBP 10617 __UNKNOWN__ __UNKNOWN__ 2 74093652 74093652 __UNKNOWN__ 3'UTR SNP T T C rs3813230 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:74093652T>C ENST00000394070.2 + 0 6044 STAMBP_ENST00000409707.1_Intron NM_213622.2 NP_998787.1 O95630 STABP_HUMAN STAM binding protein NA NA JAK-STAT cascade (GO:0007259)|mitotic cytokinesis (GO:0000281)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of cell proliferation (GO:0008284)|protein deubiquitination (GO:0016579) cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886) metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|ubiquitin-specific protease activity (GO:0004843) NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 18 TATTGATCAGTTGTTCCTTGG 0.413 NA C||| 1399 0.279353 0.4955 0.3818 5008 , , NA 24140 0.0804 NA 0.2575 False NA ,,, NA NA NA 2504 0.1421 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC007682 CCDS1929.1 2p24.3-p24.1 2008-02-05 ENSG00000124356 ENSG00000124356 10617 16950 protein-coding gene gene with protein product 606247 NA 10383417 Standard NM_006463 NM_006463 NA Approved AMSH uc002sjs.3 O95630 OTTHUMG00000129817 ENST00000394070.2:c.*4266T>C chr2.hg19:g.74093652T>C NA B5M0B6|D6W5H7|Q3MJE7 hg19 CCDS1929.1 0.02 4.312108 CAGxTGT COVERED NOVEL STAMBP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252048.2 1 8.123048 KEEP 0 0 0 27 827 TT 0.999988 0.999988 0 + 5 60 193 0 0 12.258362 139 60 4925 193 ENST00000394070.2 0.034722 1 ACTG2 72 __UNKNOWN__ __UNKNOWN__ 2 74129664 74129664 __UNKNOWN__ Intron SNP A A G rs1653256 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:74129664A>G ENST00000409731.3 + 2 247 ACTG2_ENST00000409918.1_Intron|ACTG2_ENST00000345517.3_Intron|ACTG2_ENST00000409624.1_Intron NM_001199893.1 NP_001186822.1 P63267 ACTH_HUMAN actin, gamma 2, smooth muscle, enteric NA NA muscle contraction (GO:0006936) blood microparticle (GO:0072562)|cell periphery (GO:0071944)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) ATP binding (GO:0005524) large_intestine(3)|lung(14)|skin(1) 18 ATCACCCATCATCATGACCCT 0.458 NA G||| 2817 0.5625 0.4947 0.7147 5008 , , NA 21524 0.5188 NA 0.6123 False NA ,,, NA NA NA 2504 0.5399 NA NA NA NA 0 G , 2259,2147 576.3+/-384.2 588,1083,532 64 53 57 , -6.7 0 2 dbSNP_89 57 4985,3615 514.8+/-378.5 1478,2029,793 no intron,intron ACTG2 NM_001199893.1,NM_001615.3 , 2066,3112,1325 GG,GA,AA 42.0349,48.729,44.3026 , , 74129664 7244,5762 2203 4300 6503 SO:0001627 intron_variant CCDS1930.1, CCDS56124.1 2p13.1 2008-05-20 ENSG00000163017 ENSG00000163017 72 145 protein-coding gene gene with protein product 102545 ACTL3, ACTA3 NA 1710027, 1673027 Standard NM_001615 NM_001199893 NA Approved ACTSG uc002sjw.3 P63267 OTTHUMG00000129813 ENST00000409731.3:c.126+1100A>G chr2.hg19:g.74129664A>G NA B2R7E7|B4E315|D6W5H8|E9PG30|P12718|Q504R1|Q6FI22 hg19 CCDS56124.1 0.02 30.796989 ATCxTCA COVERED NOVEL ACTG2-008 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000328090.2 2 18.026055 KEEP 0 2 72 85 2709 AA 1 1 0 + 24 60 833 0 0 48.584086 732 60 27271 1038 ENST00000409731.3 0.031746 1 ACTG2 72 __UNKNOWN__ __UNKNOWN__ 2 74129712 74129712 __UNKNOWN__ Intron SNP C C G rs1721243 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:74129712C>G ENST00000409731.3 + 2 247 ACTG2_ENST00000409918.1_Intron|ACTG2_ENST00000345517.3_Intron|ACTG2_ENST00000409624.1_Intron NM_001199893.1 NP_001186822.1 P63267 ACTH_HUMAN actin, gamma 2, smooth muscle, enteric NA NA muscle contraction (GO:0006936) blood microparticle (GO:0072562)|cell periphery (GO:0071944)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) ATP binding (GO:0005524) large_intestine(3)|lung(14)|skin(1) 18 aactctccctctaaaatgctt 0.468 NA C||| 2722 0.54353 0.4183 0.7089 5008 , , NA 21379 0.5258 NA 0.6143 False NA ,,, NA NA NA 2504 0.5409 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS1930.1, CCDS56124.1 2p13.1 2008-05-20 ENSG00000163017 ENSG00000163017 72 145 protein-coding gene gene with protein product 102545 ACTL3, ACTA3 NA 1710027, 1673027 Standard NM_001615 NM_001199893 NA Approved ACTSG uc002sjw.3 P63267 OTTHUMG00000129813 ENST00000409731.3:c.126+1148C>G chr2.hg19:g.74129712C>G NA B2R7E7|B4E315|D6W5H8|E9PG30|P12718|Q504R1|Q6FI22 hg19 CCDS56124.1 0.02 35.038498 CCTxTAA COVERED NOVEL ACTG2-008 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000328090.2 3 15.759831 KEEP 0 3 108 90 3184 CC 1 1 0 + 21 60 817 1 0 50.011551 739 60 28250 1011 ENST00000409731.3 0.027632 1 ACTG2 72 __UNKNOWN__ __UNKNOWN__ 2 74129895 74129895 __UNKNOWN__ Intron SNP G G A rs1721244 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:74129895G>A ENST00000409731.3 + 2 247 ACTG2_ENST00000409918.1_3'UTR|ACTG2_ENST00000345517.3_Intron|ACTG2_ENST00000409624.1_Intron NM_001199893.1 NP_001186822.1 P63267 ACTH_HUMAN actin, gamma 2, smooth muscle, enteric NA NA muscle contraction (GO:0006936) blood microparticle (GO:0072562)|cell periphery (GO:0071944)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) ATP binding (GO:0005524) large_intestine(3)|lung(14)|skin(1) 18 ctaaacacaggtcagctcatg 0.468 NA G||| 2714 0.541933 0.4175 0.7104 5008 , , NA 20496 0.5188 NA 0.6133 False NA ,,, NA NA NA 2504 0.5409 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS1930.1, CCDS56124.1 2p13.1 2008-05-20 ENSG00000163017 ENSG00000163017 72 145 protein-coding gene gene with protein product 102545 ACTL3, ACTA3 NA 1710027, 1673027 Standard NM_001615 NM_001199893 NA Approved ACTSG uc002sjw.3 P63267 OTTHUMG00000129813 ENST00000409731.3:c.126+1331G>A chr2.hg19:g.74129895G>A NA B2R7E7|B4E315|D6W5H8|E9PG30|P12718|Q504R1|Q6FI22 hg19 CCDS56124.1 0.02 24.023758 CAGxTCA COVERED NOVEL ACTG2-008 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000328090.2 2 7.100338 KEEP 0 5 167 82 2893 GG 1 1 0 + 26 60 948 0 0 60.786836 572 60 20910 817 ENST00000409731.3 0.043478 1 RP11-287D1.3 0 __UNKNOWN__ __UNKNOWN__ 2 74589288 74589288 __UNKNOWN__ Intron SNP G G C rs2268427 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:74589288G>C ENST00000451608.2 - 4 348 DCTN1_ENST00000409567.3_Intron|DCTN1_ENST00000394003.3_Intron|DCTN1_ENST00000409240.1_Intron|DCTN1_ENST00000409438.1_Intron|DCTN1_ENST00000409868.1_Intron|DCTN1_ENST00000361874.3_Intron|DCTN1_ENST00000407639.2_Intron NA NA NA GGGAGAGGAAGACAAGGGTTC 0.542 NA G||| 880 0.175719 0.2292 0.1571 5008 , , NA 19319 0.3929 NA 0.0199 False NA ,,, NA NA NA 2504 0.0532 NA NA NA NA 0 G ,,,,, 884,3522 345.1+/-308.4 83,718,1402 69 57 61 ,,,,, -4.9 0 2 dbSNP_100 61 210,8390 88.6+/-150.9 2,206,4092 no intron,intron,intron,intron,intron,intron DCTN1 NM_001135040.2,NM_001135041.2,NM_001190836.1,NM_001190837.1,NM_004082.4,NM_023019.3 ,,,,, 85,924,5494 CC,CG,GG 2.4419,20.0635,8.4115 ,,,,, ,,,,, 74589288 1094,11912 2203 4300 6503 SO:0001627 intron_variant NA NA NA NA ENST00000451608.2:c.349-20C>G chr2.hg19:g.74589288G>C NA hg19 0.02 4.887371 GAAxACA COVERED NOVEL RP11-287D1.3-002 KNOWN mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000445907.1 0 8.426939 KEEP 0 0 0 28 980 GG 0.999997 0.999996 0 - 11 60 429 0 0 32.022207 113 60 4248 201 ENST00000451608.2 0.08871 0.999999 C2orf81 388963 __UNKNOWN__ __UNKNOWN__ 2 74641624 74641624 __UNKNOWN__ Silent SNP G G C rs2240444 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:74641624G>C ENST00000517883.1 - 1 2086 c.1395C>G c.(1393-1395)ccC>ccG p.P465P C2orf81_ENST00000290390.5_Silent_p.P533P A6NN90 CB081_HUMAN chromosome 2 open reading frame 81 526 NA endometrium(3)|kidney(1) 4 GCAGCAACACGGGCTTCCACA 0.622 NA C||| 2730 0.545128 0.91 0.3271 5008 , , NA 16936 0.8244 NA 0.1412 False NA ,,, NA NA NA 2504 0.3344 NA NA NA NA 0 C 1103,281 439,225,28 39 46 44 1599 -1.6 0 2 dbSNP_98 44 423,2759 31,361,1199 no coding-synonymous C2orf81 NM_001145054.1 470,586,1227 CC,CG,GG 13.2935,20.3035,33.4209 533/589 74641624 1526,3040 692 1591 2283 SO:0001819 synonymous_variant AC005041, CH471053 2p13.1 2012-08-07 ENSG00000159239 ENSG00000159239 388963 34350 protein-coding gene gene with protein product NA 15815621 Standard NM_001145054 NM_001145054 NA Approved LOC388963, hCG40743 uc010yrq.1 A6NN90 OTTHUMG00000164184 ENST00000517883.1:c.1395C>G chr2.hg19:g.74641624G>C NA hg19 0.02 14.428579 CACxGGC COVERED NOVEL C2orf81-002 PUTATIVE basic|appris_candidate protein_coding NA protein_coding OTTHUMT00000377683.1 0 30.158094 KEEP 0 1 7 103 3531 GG 1 1 0 - 22 60 775 0 0 53.250948 297 60 10363 513 ENST00000517883.1 0.068966 1 INO80B 83444 __UNKNOWN__ __UNKNOWN__ 2 74682512 74682512 __UNKNOWN__ Intron SNP C C T rs2268417 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:74682512C>T ENST00000233331.7 + 2 152 INO80B_ENST00000469849.1_Intron|INO80B_ENST00000409917.1_Intron NM_031288.3 NP_112578.2 Q9C086 IN80B_HUMAN INO80 complex subunit B NA NA chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)|plasma membrane (GO:0005886) metal ion binding (GO:0046872) endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 13 CAAACACTGTCGACAGGCTTT 0.552 NA T||| 2697 0.538538 0.8729 0.3256 5008 , , NA 17553 0.8214 NA 0.159 False NA ,,, NA NA NA 2504 0.3364 NA NA NA NA 0 T 3337,1069 370.5+/-319.6 1279,779,145 64 76 72 -1.4 0 2 dbSNP_100 72 1265,7335 731.5+/-406.8 101,1063,3136 no intron INO80B NM_031288.3 1380,1842,3281 TT,TC,CC 14.7093,24.2624,35.3837 74682512 4602,8404 2203 4300 6503 SO:0001627 intron_variant AB054538 CCDS1942.2 2p13.1 2011-07-06 2008-08-07 2008-08-07 ENSG00000115274 ENSG00000115274 83444 Zinc fingers, HIT-type, INO80 complex subunits 13324 protein-coding gene gene with protein product PAP-1 binding protein, IES2 homolog (S. cerevisiae) high mobility group AT-hook 1-like 4, zinc finger, HIT type 4 HMGA1L4, ZNHIT4 NA 16230350 Standard NM_031288 NM_031288 NA Approved HMGIYL4, PAPA-1, hIes2, PAP-1BP, IES2 uc002slg.3 Q9C086 OTTHUMG00000129959 ENST00000233331.7:c.59-21C>T chr2.hg19:g.74682512C>T NA hg19 CCDS1942.2 0.02 8.779682 TGTxGAC COVERED NOVEL INO80B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252223.2 0 44.937571 KEEP 0 1 24 158 5206 CC 1 1 0 + 9 60 334 0 0 21.294232 216 60 7576 472 ENST00000233331.7 0.04 1 WBP1 23559 __UNKNOWN__ __UNKNOWN__ 2 74687550 74687550 __UNKNOWN__ Silent SNP T T C rs8469 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:74687550T>C ENST00000393972.3 + 5 857 c.654T>C c.(652-654)ccT>ccC p.P218P WBP1_ENST00000233615.2_Silent_p.P184P|WBP1_ENST00000494741.1_3'UTR|WBP1_ENST00000409737.1_Silent_p.P181P Q96G27 WBP1_HUMAN WW domain binding protein 1 184 NA WW domain binding (GO:0050699) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1) 8 GTGCCCCCCCTCATCAGGAGG 0.612 NA T||| 2625 0.524161 0.8275 0.3156 5008 , , NA 15618 0.8214 NA 0.1581 False NA ,,, NA NA NA 2504 0.3323 NA NA NA NA 0 T 3085,1321 1140,805,258 52 70 64 552 2 1 2 dbSNP_52 64 1125,7473 88,949,3262 no coding-synonymous WBP1 NM_012477.3 1228,1754,3520 CC,CT,TT 13.0844,29.9818,32.3747 184/270 74687550 4210,8794 2203 4299 6502 SO:0001819 synonymous_variant U79457 CCDS1943.1 2p12 2012-04-20 ENSG00000239779 ENSG00000239779 23559 12737 protein-coding gene gene with protein product 606961 NA 7644498 Standard NM_012477 NM_012477 NA Approved WBP-1 uc002slj.2 Q96G27 OTTHUMG00000129958 ENST00000393972.3:c.654T>C chr2.hg19:g.74687550T>C NA B2RE02|O95637 hg19 0.02 1.881409 CCCxCAT COVERED NOVEL WBP1-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000252222.2 3 5.141841 KEEP 0 1 5 19 552 TT 0.999863 0.999744 0 + 4 60 147 0 0 9.467255 88 60 2977 130 ENST00000393972.3 0.043478 0.999881 MOGS 7841 __UNKNOWN__ __UNKNOWN__ 2 74690039 74690039 __UNKNOWN__ Missense_Mutation SNP G G A rs2268416 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:74690039G>A ENST00000233616.4 - 4 1039 c.877C>T c.(877-879)Ccc>Tcc p.P293S MOGS_ENST00000535045.1_3'UTR|MOGS_ENST00000452063.2_Missense_Mutation_p.P187S|MOGS_ENST00000462443.1_5'UTR|MOGS_ENST00000409065.1_3'UTR NM_006302.2 NP_006293.2 Q13724 MOGS_HUMAN mannosyl-oligosaccharide glucosidase 293 NA P -> S (in dbSNP:rs2268416). {ECO:0000269|PubMed:7635146}. cellular protein metabolic process (GO:0044267)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020) glucosidase activity (GO:0015926)|mannosyl-oligosaccharide glucosidase activity (GO:0004573) cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2) 23 CGTTCAGGGGGGGCCCCTGGG 0.592 NA A||| 2698 0.538738 0.8714 0.3242 5008 , , NA 18027 0.8214 NA 0.159 False NA ,,, NA NA NA 2504 0.3405 NA NA NA NA 0 A SER/PRO,SER/PRO 2873,1041 1062,749,146 112 120 118 559,877 0.9 0.1 2 dbSNP_100 118 1202,7096 95,1012,3042 yes missense,missense MOGS NM_001146158.1,NM_006302.2 74,74 1157,1761,3188 AA,AG,GG 14.4854,26.5968,33.3688 benign,benign 187/732,293/838 74690039 4075,8137 1957 4149 6106 SO:0001583 missense X87237 CCDS42700.1, CCDS54370.1 2p13.1 2012-01-31 ENSG00000115275 ENSG00000115275 7841 3.2.1.106 24862 protein-coding gene gene with protein product glucosidase I, processing A-glucosidase I 601336 NA 7635146, 8786151 Standard NM_006302 NM_006302 NA Approved GCS1, CWH41, DER7 uc010ffj.3 Q13724 OTTHUMG00000152886 ENST00000233616.4:c.877C>T chr2.hg19:g.74690039G>A ENSP00000233616:p.Pro293Ser NA A8K938|F5H6D0|Q17RN9|Q8TCT5 hg19 CCDS42700.1 0.02 18.689324 GGGxGGC COVERED 1100 0.5036630036630036 419 0.8516260162601627 97 0.26795580110497236 469 0.8199300699300699 115 0.1517150395778364 A 0.007 -1.939376 0.00484 0.734032 0.144854 ENSG00000115275 ENST00000233616;ENST00000452063;ENST00000448666 T;T;T 0.35973 1.28;1.28;1.28 4.85 0.945 0.19543 . 0.491884 0.22259 N 0.062440 T 0.00012 0.0000 N 0.01168 -0.975 0.09310 P 0.99999454037 B 0.02656 0.0 B 0.01281 0.0 T 0.33954 -0.9848 9 0.05721 T 0.95 -3.9946 1.0778 0.01636 0.5087:0.1551:0.1865:0.1497 rs2268416;rs58722329 293 Q13724 MOGS_HUMAN S 293;187;187 ENSP00000233616:P293S;ENSP00000388201:P187S;ENSP00000410992:P187S ENSP00000233616:P293S P - 1 0 MOGS 74543547 0.263000 0.24083 0.094000 0.20943 0.518000 0.34316 0.754000 0.26390 -0.235000 0.09767 -0.254000 0.11334 CCC NOVEL MOGS-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000328382.1 2 45.146756 KEEP 0 1 28 160 5505 GG 1 1 0 - 33 60 1204 0 0 85.097144 412 60 14735 737 ENST00000233616.4 0.074157 1 MOGS 7841 __UNKNOWN__ __UNKNOWN__ 2 74690378 74690378 __UNKNOWN__ Missense_Mutation SNP C C T rs1063588 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:74690378C>T ENST00000233616.4 - 3 877 c.715G>A c.(715-717)Gac>Aac p.D239N MOGS_ENST00000535045.1_3'UTR|MOGS_ENST00000452063.2_Missense_Mutation_p.D133N|MOGS_ENST00000462443.1_5'UTR|MOGS_ENST00000409065.1_Intron NM_006302.2 NP_006293.2 Q13724 MOGS_HUMAN mannosyl-oligosaccharide glucosidase 239 NA D -> N (in dbSNP:rs1063588). {ECO:0000269|PubMed:7635146}. cellular protein metabolic process (GO:0044267)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020) glucosidase activity (GO:0015926)|mannosyl-oligosaccharide glucosidase activity (GO:0004573) cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2) 23 AAGCGGAAGTCACCAAGTTCA 0.527 NA C||| 2598 0.51877 0.8086 0.3127 5008 , , NA 20904 0.8214 NA 0.1581 False NA ,,, NA NA NA 2504 0.3323 NA NA NA NA 0 C ASN/ASP,ASN/ASP 2661,1287 899,863,212 116 119 118 397,715 4.8 1 2 dbSNP_86 118 1138,7210 82,974,3118 yes missense,missense MOGS NM_001146158.1,NM_006302.2 23,23 981,1837,3330 TT,TC,CC 13.632,32.5988,30.8962 benign,benign 133/732,239/838 74690378 3799,8497 1974 4174 6148 SO:0001583 missense X87237 CCDS42700.1, CCDS54370.1 2p13.1 2012-01-31 ENSG00000115275 ENSG00000115275 7841 3.2.1.106 24862 protein-coding gene gene with protein product glucosidase I, processing A-glucosidase I 601336 NA 7635146, 8786151 Standard NM_006302 NM_006302 NA Approved GCS1, CWH41, DER7 uc010ffj.3 Q13724 OTTHUMG00000152886 ENST00000233616.4:c.715G>A chr2.hg19:g.74690378C>T ENSP00000233616:p.Asp239Asn NA A8K938|F5H6D0|Q17RN9|Q8TCT5 hg19 CCDS42700.1 0.02 6.258383 AGTxACC COVERED 1064 0.48717948717948717 387 0.7865853658536586 94 0.2596685082872928 469 0.8199300699300699 114 0.1503957783641161 C 12.59 1.983034 0.34942 0.674012 0.13632 ENSG00000115275 ENST00000233616;ENST00000452063;ENST00000448666;ENST00000414701 T;T;T;T 0.36878 1.23;1.23;1.23;1.23 4.85 4.85 0.62838 . 0.243944 0.41194 D 0.000925 T 0.00012 0.0000 N 0.17800 0.525 0.09310 P 1.0 P 0.36616 0.561 B 0.36666 0.23 T 0.07558 -1.0766 9 0.21014 T 0.42 -20.9003 13.3472 0.60580 0.0:1.0:0.0:0.0 rs1063588;rs3204621;rs58978224;rs1063588 239 Q13724 MOGS_HUMAN N 239;133;133;120 ENSP00000233616:D239N;ENSP00000388201:D133N;ENSP00000410992:D133N;ENSP00000396298:D120N ENSP00000233616:D239N D - 1 0 MOGS 74543886 0.998000 0.40836 1.000000 0.80357 0.950000 0.60333 0.994000 0.29693 2.504000 0.84457 0.655000 0.94253 GAC NOVEL MOGS-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000328382.1 1 9.764941 KEEP 0 1 30 43 1454 CC 1 1 0 - 9 60 307 0 0 19.445197 174 60 6425 265 ENST00000233616.4 0.04918 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 74692647 74692647 __UNKNOWN__ IGR SNP T T C rs2284708 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:74692647T>C NA NA MOGS (110 upstream) : MRPL53 (6437 downstream) NA NA NA CGGGATTGCGTTTATCTGGCG 0.577 NA C||| 2725 0.544129 0.8888 0.3271 5008 , , NA 15371 0.8214 NA 0.16 False NA ,,, NA NA NA 2504 0.3415 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.74692647T>C NA hg19 0.02 4.210137 GCGxTTA COVERED NOVEL 0 1 11.57227 KEEP 0 1 39 52 1692 TT 1 1 0 6 60 217 0 0 13.950389 127 60 4530 241 0.045113 1 MRPL53 116540 __UNKNOWN__ __UNKNOWN__ 2 74699778 74699778 __UNKNOWN__ Missense_Mutation SNP C C A rs1047911 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:74699778C>A ENST00000409710.1 - 1 36 c.10G>T c.(10-12)Gcc>Tcc p.A4S MRPL53_ENST00000258105.7_Missense_Mutation_p.A4S Q96EL3 RM53_HUMAN mitochondrial ribosomal protein L53 4 NA A -> S (in dbSNP:rs1047911). mitochondrion (GO:0005739)|ribosome (GO:0005840) central_nervous_system(1)|large_intestine(2)|lung(1)|urinary_tract(1) 5 CGAGCCAAGGCAGCTGCCATG 0.602 NA C||| 2588 0.516773 0.8064 0.3098 5008 , , NA 20314 0.8214 NA 0.1581 False NA ,,, NA NA NA 2504 0.3272 NA NA NA NA 0 C SER/ALA 3112,1294 679.3+/-403.7 1106,900,197 55 52 53 10 2.3 0.2 2 dbSNP_86 53 1187,7411 228.6+/-263.6 88,1011,3200 yes missense MRPL53 NM_053050.4 99 1194,1911,3397 AA,AC,CC 13.8055,29.369,33.0591 benign 4/113 74699778 4299,8705 2203 4299 6502 SO:0001583 missense BC012163 CCDS1944.1 2p13.1 2012-09-13 ENSG00000204822 ENSG00000204822 116540 Mitochondrial ribosomal proteins / large subunits 16684 protein-coding gene gene with protein product 611857 NA 11551941 Standard NM_053050 NM_053050 NA Approved uc002sln.3 Q96EL3 OTTHUMG00000129961 ENST00000409710.1:c.10G>T chr2.hg19:g.74699778C>A ENSP00000386920:p.Ala4Ser NA hg19 0.02 17.463754 AGGxAGC COVERED 1092 0.5 396 0.8048780487804879 99 0.27348066298342544 474 0.8286713286713286 123 0.16226912928759896 C 5.013 0.188132 0.09547 0.70631 0.138055 ENSG00000204822 ENST00000258105;ENST00000409710 T;T 0.57595 0.76;0.39 5.09 2.26 0.28386 . 0.532852 0.21296 N 0.076882 T 0.00012 0.0000 N 0.14661 0.345 0.52099 P 5.900000000003125E-5 B 0.02656 0.0 B 0.01281 0.0 T 0.38866 -0.9641 9 0.07482 T 0.82 -14.3176 3.6041 0.08035 0.1827:0.5686:0.1584:0.0903 rs1047911;rs3210341;rs11554618;rs56805532;rs1047911 4 Q96EL3 RM53_HUMAN S 4 ENSP00000258105:A4S;ENSP00000386920:A4S ENSP00000258105:A4S A - 1 0 MRPL53 74553286 0.793000 0.28825 0.169000 0.22859 0.002000 0.02628 0.255000 0.18333 0.280000 0.22209 -0.137000 0.14449 GCC NOVEL MRPL53-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000328435.1 3 56.458217 KEEP 0 3 98 222 7935 CC 1 1 0 - 26 60 935 0 0 62.872455 420 70 15958 877 ENST00000409710.1 0.058296 1 TTC31 64427 __UNKNOWN__ __UNKNOWN__ 2 74710491 74710491 __UNKNOWN__ Missense_Mutation SNP C C T rs6707475 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:74710491C>T ENST00000233623.5 + 2 90 c.83C>T c.(82-84)gCa>gTa p.A28V TTC31_ENST00000463189.1_3'UTR|TTC31_ENST00000410003.1_Missense_Mutation_p.A28V|TTC31_ENST00000442235.2_5'UTR NM_022492.4 NP_071937.4 Q49AM3 TTC31_HUMAN tetratricopeptide repeat domain 31 28 NA A -> V (in dbSNP:rs6707475). {ECO:0000269|PubMed:15489334}. breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1) 9 GTCGCTGCTGCACCCAAACTT 0.582 NA OREG0014719 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) T||| 2741 0.547324 0.907 0.3256 5008 , , NA 17254 0.8224 NA 0.159 False NA ,,, NA NA NA 2504 0.3344 NA NA NA NA 0 T VAL/ALA 2987,943 1146,695,124 63 71 68 83 0.3 0.8 2 dbSNP_116 68 1204,7124 95,1014,3055 yes missense TTC31 NM_022492.4 64 1241,1709,3179 TT,TC,CC 14.4573,23.9949,34.1899 benign 28/520 74710491 4191,8067 1965 4164 6129 SO:0001583 missense AK026819 CCDS42701.1 2p13.1 2013-01-11 ENSG00000115282 ENSG00000115282 64427 Tetratricopeptide (TTC) repeat domain containing 25759 protein-coding gene gene with protein product NA 12477932 Standard NM_022492 NM_022492 NA Approved FLJ12788 uc002slt.2 Q49AM3 OTTHUMG00000152887 ENST00000233623.5:c.83C>T chr2.hg19:g.74710491C>T ENSP00000233623:p.Ala28Val 1154 Q4KN40|Q53FD4|Q9H9F7 hg19 CCDS42701.1 0.02 6.141149 CTGxACC COVERED 1119 0.5123626373626373 436 0.8861788617886179 98 0.27071823204419887 470 0.8216783216783217 115 0.1517150395778364 T 14.44 2.534928 0.45073 0.760051 0.144573 ENSG00000115282 ENST00000410003;ENST00000435361;ENST00000441635;ENST00000233623 T;T 0.38077 1.16;1.16 4.27 0.28 0.15682 . 0.280031 0.23373 N 0.048891 T 0.00012 0.0000 N 0.00347 -1.61 0.09310 P 0.9999999999531156 B 0.02656 0.0 B 0.01281 0.0 T 0.29579 -1.0007 9 0.02654 T 1 -1.4487 3.1691 0.06546 0.1962:0.3671:0.0:0.4367 rs6707475;rs52813769;rs59381657;rs6707475 28 Q49AM3 TTC31_HUMAN V 28 ENSP00000387213:A28V;ENSP00000233623:A28V ENSP00000233623:A28V A + 2 0 TTC31 74563999 0.061000 0.20836 0.771000 0.31576 0.900000 0.52787 -0.054000 0.11826 -0.006000 0.14370 -0.254000 0.11334 GCA NOVEL TTC31-001 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000328422.1 0 9.865636 KEEP 0 1 23 41 1446 CC 1 1 0 + 11 60 379 0 0 26.04691 140 60 5095 220 ENST00000233623.5 0.072848 1 TTC31 64427 __UNKNOWN__ __UNKNOWN__ 2 74719910 74719910 __UNKNOWN__ Intron SNP G G T rs17009980 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:74719910G>T ENST00000233623.5 + 12 1270 TTC31_ENST00000410003.1_3'UTR|TTC31_ENST00000442235.2_Intron NM_022492.4 NP_071937.4 Q49AM3 TTC31_HUMAN tetratricopeptide repeat domain 31 NA NA breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1) 9 GCTGAGGCGGGTATCAGGGAG 0.617 NA G||| 1669 0.333267 0.1407 0.2579 5008 , , NA 17540 0.8214 NA 0.1531 False NA ,,, NA NA NA 2504 0.3292 NA NA NA NA 0 G 548,3452 46,456,1498 25 28 27 2.2 0 2 dbSNP_123 27 1092,7236 78,936,3150 no intron TTC31 NM_022492.4 124,1392,4648 TT,TG,GG 13.1124,13.7,13.303 74719910 1640,10688 2000 4164 6164 SO:0001627 intron_variant AK026819 CCDS42701.1 2p13.1 2013-01-11 ENSG00000115282 ENSG00000115282 64427 Tetratricopeptide (TTC) repeat domain containing 25759 protein-coding gene gene with protein product NA 12477932 Standard NM_022492 NM_022492 NA Approved FLJ12788 uc002slt.2 Q49AM3 OTTHUMG00000152887 ENST00000233623.5:c.1263+36G>T chr2.hg19:g.74719910G>T NA Q4KN40|Q53FD4|Q9H9F7 hg19 CCDS42701.1 0.02 10.128585 CGGxTAT COVERED NOVEL TTC31-001 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000328422.1 3 5.150313 KEEP 0 1 34 29 980 GG 0.999997 0.999997 0 + 12 60 410 0 0 25.344312 262 60 9628 341 ENST00000233623.5 0.043796 1 TTC31 64427 __UNKNOWN__ __UNKNOWN__ 2 74721055 74721055 __UNKNOWN__ 3'UTR SNP A A G rs2301984 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:74721055A>G ENST00000233623.5 + 0 2277 TTC31_ENST00000410003.1_3'UTR NM_022492.4 NP_071937.4 Q49AM3 TTC31_HUMAN tetratricopeptide repeat domain 31 NA NA breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1) 9 CAGGTGCCCAAGCTGCTACAA 0.527 NA G||| 2696 0.538339 0.8729 0.3228 5008 , , NA 20237 0.8214 NA 0.159 False NA ,,, NA NA NA 2504 0.3374 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK026819 CCDS42701.1 2p13.1 2013-01-11 ENSG00000115282 ENSG00000115282 64427 Tetratricopeptide (TTC) repeat domain containing 25759 protein-coding gene gene with protein product NA 12477932 Standard NM_022492 NM_022492 NA Approved FLJ12788 uc002slt.2 Q49AM3 OTTHUMG00000152887 ENST00000233623.5:c.*710A>G chr2.hg19:g.74721055A>G NA Q4KN40|Q53FD4|Q9H9F7 hg19 CCDS42701.1 0.02 7.640895 CCAxGCT COVERED NOVEL TTC31-001 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000328422.1 0 4.212701 KEEP 0 0 0 14 437 AA 0.995343 0.995343 0 + 14 60 519 0 0 37.888515 148 60 5426 197 ENST00000233623.5 0.08642 1 LBX2 85474 __UNKNOWN__ __UNKNOWN__ 2 74725178 74725178 __UNKNOWN__ 3'UTR SNP G G A rs17009998 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:74725178G>A ENST00000341396.2 - 0 416 LBX2_ENST00000460508.3_Missense_Mutation_p.S154F|LBX2_ENST00000550249.1_5'UTR|LBX2_ENST00000377566.4_Missense_Mutation_p.S158F Q6XYB7 LBX2_HUMAN ladybird homeobox 2 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677) central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1) 4 GACTTCCGGGGACAACGCGCG 0.687 NA G||| 1668 0.333067 0.1399 0.2579 5008 , , NA 15440 0.8204 NA 0.1551 False NA ,,, NA NA NA 2504 0.3282 NA NA NA NA 0 G PHE/SER 662,3744 276.3+/-273.0 54,554,1595 49 48 48 461 3 0.2 2 dbSNP_123 48 1139,7459 227.9+/-263.1 77,985,3237 yes missense LBX2 NM_001009812.1 155 131,1539,4832 AA,AG,GG 13.2473,15.025,13.8496 probably-damaging 154/195 74725178 1801,11203 2203 4299 6502 SO:0001624 3_prime_UTR_variant AC005041 CCDS33228.1, CCDS62938.1 2p13.1 2014-05-06 2007-02-15 ENSG00000179528 ENSG00000179528 85474 Homeoboxes / ANTP class : NKL subclass 15525 protein-coding gene gene with protein product 607164 ladybird homeobox homolog 2 (Drosophila) NA 11386758 Standard NM_001009812 NM_001282430 NA Approved uc002slw.3 Q6XYB7 OTTHUMG00000170595 ENST00000341396.2:c.*118C>T chr2.hg19:g.74725178G>A NA Q7Z5Y8 hg19 0.02 10.328445 GGGxACA COVERED 718 0.32875457875457875 63 0.12804878048780488 72 0.19889502762430938 471 0.8234265734265734 112 0.14775725593667546 G 15.19 2.759678 0.49468 0.15025 0.132473 ENSG00000179528 ENST00000377566;ENST00000460508 D;D 0.91945 -2.82;-2.94 4.76 2.95 0.34219 . 0.647217 0.13712 N 0.367991 T 0.00012 0.0000 L 0.29908 0.895 0.20563 P 0.999885927 B;B 0.12630 0.006;0.002 B;B 0.19148 0.024;0.002 T 0.44174 -0.9345 9 0.66056 D 0.02 . 7.3598 0.26739 0.0893:0.0:0.7431:0.1677 rs17009998;rs60339187;rs17009998 154;158 Q6XYB7-2;Q6XYB7 .;LBX2_HUMAN F 158;154 ENSP00000366789:S158F;ENSP00000417116:S154F ENSP00000366789:S158F S - 2 0 LBX2 74578686 0.000000 0.05858 0.178000 0.23040 0.034000 0.12701 0.297000 0.19101 0.605000 0.29947 0.561000 0.74099 TCC NOVEL LBX2-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000328491.3 0 22.873047 KEEP 0 0 0 76 2677 GG 1 1 0 - 14 60 483 0 0 30.985008 261 60 9596 420 ENST00000341396.2 0.050909 1 PCGF1 84759 __UNKNOWN__ __UNKNOWN__ 2 74732415 74732415 __UNKNOWN__ Intron SNP T T G rs2240443 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:74732415T>G ENST00000233630.6 - 8 1644 PCGF1_ENST00000480844.2_Intron NM_032673.2 NP_116062.2 Q9BSM1 PCGF1_HUMAN polycomb group ring finger 1 NA NA histone H2A monoubiquitination (GO:0035518)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634)|PcG protein complex (GO:0031519) protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270) endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(2) 12 TGTAGGATGGTTGGGGGGAGT 0.542 NA T||| 2606 0.520367 0.8109 0.3141 5008 , , NA 15145 0.8244 NA 0.1561 False NA ,,, NA NA NA 2504 0.3354 NA NA NA NA 0 T 3080,1324 1105,870,227 22 24 24 -0.7 0 2 dbSNP_98 24 1159,7439 84,991,3224 no intron PCGF1 NM_032673.2 1189,1861,3451 GG,GT,TT 13.4799,30.0636,32.6027 74732415 4239,8763 2202 4299 6501 SO:0001627 intron_variant AF087884 CCDS1946.2 2p13.1 2013-01-09 ENSG00000115289 ENSG00000115289 84759 RING-type (C3HC4) zinc fingers, Polycomb group ring fingers 17615 protein-coding gene gene with protein product 610231 NA 11287196 Standard NM_032673 NM_032673 NA Approved NSPC1, RNF68, MGC10882 uc002slz.3 Q9BSM1 OTTHUMG00000129954 ENST00000233630.6:c.732+50A>C chr2.hg19:g.74732415T>G NA Q7Z506 hg19 CCDS1946.2 0.02 9.173425 TGGxTGG COVERED NOVEL PCGF1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252216.1 0 6.620495 KEEP 0 0 0 22 714 TT 0.999892 0.999892 0 - 13 60 483 1 0 33.223945 201 60 7015 254 ENST00000233630.6 0.060748 1 PCGF1 84759 __UNKNOWN__ __UNKNOWN__ 2 74735614 74735614 __UNKNOWN__ 5'UTR SNP T T C rs3806607 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:74735614T>C ENST00000233630.6 - 0 93 NM_032673.2 NP_116062.2 Q9BSM1 PCGF1_HUMAN polycomb group ring finger 1 NA NA histone H2A monoubiquitination (GO:0035518)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634)|PcG protein complex (GO:0031519) protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270) endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(2) 12 CACCGCCGGCTCTGGGTACTT 0.522 NA C||| 2785 0.55611 0.9183 0.3271 5008 , , NA 16970 0.8224 NA 0.165 False NA ,,, NA NA NA 2504 0.3569 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF087884 CCDS1946.2 2p13.1 2013-01-09 ENSG00000115289 ENSG00000115289 84759 RING-type (C3HC4) zinc fingers, Polycomb group ring fingers 17615 protein-coding gene gene with protein product 610231 NA 11287196 Standard NM_032673 NM_032673 NA Approved NSPC1, RNF68, MGC10882 uc002slz.3 Q9BSM1 OTTHUMG00000129954 ENST00000233630.6:c.-819A>G chr2.hg19:g.74735614T>C NA Q7Z506 hg19 CCDS1946.2 0.02 7.445766 GGCxCTG COVERED NOVEL PCGF1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252216.1 1 30.030823 KEEP 0 0 0 100 3234 TT 1 1 0 - 16 60 584 0 0 42.910056 157 60 5699 361 ENST00000233630.6 0.092486 1 AUP1 550 __UNKNOWN__ __UNKNOWN__ 2 74756176 74756176 __UNKNOWN__ Intron SNP G G C rs2231250 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:74756176G>C ENST00000377526.3 - 3 649 NM_181575.3 NP_853553.1 Q9Y679 AUP1_HUMAN ancient ubiquitous protein 1 NA NA endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020) breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7) 11 ATCCTCCATGGGGAACGCGAG 0.552 NA G||| 2504 0.5 0.6891 0.3646 5008 , , NA 18641 0.8304 NA 0.169 False NA ,,, NA NA NA 2504 0.3405 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS42702.1 2p13 2008-05-21 ENSG00000115307 ENSG00000115307 550 891 protein-coding gene gene with protein product 602434 NA 8812468, 12042322 Standard NM_181575 XM_005264392 NA Approved uc002smf.3 Q9Y679 OTTHUMG00000129964 ENST00000377526.3:c.339+82C>G chr2.hg19:g.74756176G>C NA C0H5W8|Q9H866|Q9UNQ6|Q9Y685 hg19 CCDS42702.1 0.02 8.963111 ATGxGGA COVERED 1037 0.4748168498168498 334 0.6788617886178862 110 0.30386740331491713 474 0.8286713286713286 119 0.15699208443271767 G 11.15 1.555375 0.27739 . . ENSG00000115307 ENST00000258081 . . . 4.13 1.26 0.21427 . 0.576566 0.15300 N 0.269662 T 0.00012 0.0000 . . . 0.54753 P 1.0999999999983245E-5 . . . . . . T 0.15492 -1.0435 5 0.33141 T 0.24 . 5.4728 0.16680 0.1951:0.1667:0.6382:0.0 rs2231250;rs57620448;rs2231250 . . . R 141 . ENSP00000258081:P141R P - 2 0 AUP1 74609684 0.015000 0.18098 0.000000 0.03702 0.204000 0.24138 0.817000 0.27281 0.139000 0.18822 0.561000 0.74099 CCC NOVEL AUP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252228.2 1 28.727974 KEEP 0 1 33 107 3712 GG 1 1 0 - 20 60 710 0 0 50.732562 218 60 8023 397 ENST00000377526.3 0.084034 1 HTRA2 27429 __UNKNOWN__ __UNKNOWN__ 2 74758666 74758666 __UNKNOWN__ Intron SNP G G A rs2241027 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:74758666G>A ENST00000258080.3 + 5 1569 HTRA2_ENST00000352222.3_Intron|HTRA2_ENST00000467961.1_Intron NM_013247.4 NP_037379.1 O43464 HTRA2_HUMAN HtrA serine peptidase 2 NA NA adult walking behavior (GO:0007628)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|ceramide metabolic process (GO:0006672)|execution phase of apoptosis (GO:0097194)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitochondrion organization (GO:0007005)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|neuron development (GO:0048666)|pentacyclic triterpenoid metabolic process (GO:0019742)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell death (GO:0010942)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of mitochondrion degradation (GO:1903146)|regulation of multicellular organism growth (GO:0040014)|response to herbicide (GO:0009635) CD40 receptor complex (GO:0035631)|chromatin (GO:0000785)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634) peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)|unfolded protein binding (GO:0051082) endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 12 TTTTGTTCGGGTGCCCCCATC 0.488 NA G||| 510 0.101837 0.031 0.1354 5008 , , NA 19664 0.3353 NA 0.003 False NA ,,, NA NA NA 2504 0.0348 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS1951.1, CCDS1952.1 2p13.1 2011-07-21 2005-08-19 2005-08-19 ENSG00000115317 ENSG00000115317 27429 Serine peptidases / Serine peptidases, Parkinson disease 14348 protein-coding gene gene with protein product 606441 protease, serine, 25 PRSS25 NA 10644717, 10971580 Standard NM_013247 XM_005264266 NA Approved OMI, PARK13 uc002smi.1 O43464 OTTHUMG00000129957 ENST00000258080.3:c.940-58G>A chr2.hg19:g.74758666G>A NA Q9HBZ4|Q9P0Y3|Q9P0Y4 hg19 CCDS1951.1 0.02 9.169843 CGGxTGC COVERED NOVEL HTRA2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252219.2 3 20.46532 KEEP 0 0 0 68 2367 GG 1 1 0 + 17 60 628 0 0 45.579991 185 60 6768 328 ENST00000258080.3 0.084158 1 LOXL3 84695 __UNKNOWN__ __UNKNOWN__ 2 74761422 74761422 __UNKNOWN__ Intron SNP T T C rs6707302 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:74761422T>C ENST00000264094.3 - 11 2011 LOXL3_ENST00000409549.1_Intron|LOXL3_ENST00000393937.2_Intron|LOXL3_ENST00000409249.1_Intron|LOXL3_ENST00000409986.1_Intron NM_032603.2 NP_115992.1 P58215 LOXL3_HUMAN lysyl oxidase-like 3 NA NA epithelial to mesenchymal transition (GO:0001837)|negative regulation of transcription, DNA-templated (GO:0045892) cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|nucleus (GO:0005634) copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044) endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 30 ACCATGTGGTTCACTTCAGTC 0.512 NA C||| 2780 0.555112 0.9123 0.379 5008 , , NA 23163 0.8294 NA 0.1511 False NA ,,, NA NA NA 2504 0.3303 NA NA NA NA 0 C 3505,901 345.7+/-308.6 1405,695,103 154 151 152 2.1 0 2 dbSNP_116 152 1265,7335 760.8+/-407.6 100,1065,3135 no intron LOXL3 NM_032603.2 1505,1760,3238 CC,CT,TT 14.7093,20.4494,36.6754 74761422 4770,8236 2203 4300 6503 SO:0001627 intron_variant AF282619 CCDS1953.1, CCDS74527.1 2p13 2008-05-23 ENSG00000115318 ENSG00000115318 84695 13869 protein-coding gene gene with protein product 607163 NA 11386757 Standard NM_032603 NM_032603 NA Approved uc002smp.1 P58215 OTTHUMG00000129953 ENST00000264094.3:c.1939+20A>G chr2.hg19:g.74761422T>C NA D6W5J1|Q2EHP2|Q6IPL7|Q96RS1 hg19 CCDS1953.1 0.02 16.822822 GGTxCAC COVERED NOVEL LOXL3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252215.1 2 8.596282 KEEP 0 2 73 54 1691 TT 1 1 0 - 22 60 770 0 0 50.390595 398 60 14095 574 ENST00000264094.3 0.052381 1 LOXL3 84695 __UNKNOWN__ __UNKNOWN__ 2 74761539 74761539 __UNKNOWN__ Missense_Mutation SNP T T A rs17010021 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:74761539T>A ENST00000264094.3 - 11 1914 c.1843A>T c.(1843-1845)Atc>Ttc p.I615F LOXL3_ENST00000409549.1_Missense_Mutation_p.I559F|LOXL3_ENST00000393937.2_Missense_Mutation_p.I470F|LOXL3_ENST00000409249.1_Intron|LOXL3_ENST00000409986.1_Missense_Mutation_p.I470F NM_032603.2 NP_115992.1 P58215 LOXL3_HUMAN lysyl oxidase-like 3 615 Lysyl-oxidase like. NA I -> F (in dbSNP:rs17010021). epithelial to mesenchymal transition (GO:0001837)|negative regulation of transcription, DNA-templated (GO:0045892) cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|nucleus (GO:0005634) copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044) endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 30 TGAGTGAAGATGTCCATGCTG 0.532 NA T||| 651 0.129992 0.0257 0.0965 5008 , , NA 24452 0.3313 NA 0.0427 False NA ,,, NA NA NA 2504 0.1769 NA NA NA NA 0 T PHE/ILE 126,4280 93.0+/-131.7 1,124,2078 214 206 209 1843 3.7 1 2 dbSNP_123 209 309,8291 110.2+/-170.6 5,299,3996 yes missense LOXL3 NM_032603.2 21 6,423,6074 AA,AT,TT 3.593,2.8597,3.3446 benign 615/754 74761539 435,12571 2203 4300 6503 SO:0001583 missense AF282619 CCDS1953.1, CCDS74527.1 2p13 2008-05-23 ENSG00000115318 ENSG00000115318 84695 13869 protein-coding gene gene with protein product 607163 NA 11386757 Standard NM_032603 NM_032603 NA Approved uc002smp.1 P58215 OTTHUMG00000129953 ENST00000264094.3:c.1843A>T chr2.hg19:g.74761539T>A ENSP00000264094:p.Ile615Phe NA D6W5J1|Q2EHP2|Q6IPL7|Q96RS1 hg19 CCDS1953.1 0.02 24.481048 AGAxGTC COVERED 266 0.12179487179487179 10 0.02032520325203252 33 0.09116022099447514 194 0.33916083916083917 29 0.03825857519788918 T 16.07 3.018957 0.54576 0.028597 0.03593 ENSG00000115318 ENST00000264094;ENST00000393937;ENST00000409549;ENST00000409986 T;T;T;T 0.32272 1.46;1.46;1.46;1.46 4.87 3.7 0.42460 . 0.110173 0.64402 D 0.000010 T 0.00012 0.0000 L 0.44542 1.39 0.20489 P 0.999895742 D;D;D;P 0.67145 0.996;0.983;0.984;0.922 D;D;D;P 0.65443 0.935;0.932;0.917;0.697 T 0.32903 -0.9889 9 0.59425 D 0.04 . 6.3422 0.21328 0.0:0.192:0.0:0.808 rs17010021;rs52799143;rs17010021 470;559;470;615 B9A025;E7END4;Q6IPL7;P58215 .;.;.;LOXL3_HUMAN F 615;470;559;470 ENSP00000264094:I615F;ENSP00000377512:I470F;ENSP00000386696:I559F;ENSP00000386545:I470F ENSP00000264094:I615F I - 1 0 LOXL3 74615047 1.000000 0.71417 1.000000 0.80357 0.990000 0.78478 1.738000 0.38207 0.983000 0.38602 0.460000 0.39030 ATC NOVEL LOXL3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252215.1 8 21.061801 KEEP 0 0 0 70 2146 TT 1 1 0 - 17 60 623 0 0 37.420695 539 60 19619 698 ENST00000264094.3 0.030576 1 LOXL3 84695 __UNKNOWN__ __UNKNOWN__ 2 74763258 74763258 __UNKNOWN__ Silent SNP C C G rs17010022 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:74763258C>G ENST00000264094.3 - 7 1184 c.1113G>C c.(1111-1113)ctG>ctC p.L371L LOXL3_ENST00000409549.1_Silent_p.L371L|LOXL3_ENST00000393937.2_Silent_p.L226L|LOXL3_ENST00000409249.1_Intron|LOXL3_ENST00000409986.1_Silent_p.L226L NM_032603.2 NP_115992.1 P58215 LOXL3_HUMAN lysyl oxidase-like 3 371 SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}. NA epithelial to mesenchymal transition (GO:0001837)|negative regulation of transcription, DNA-templated (GO:0045892) cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|nucleus (GO:0005634) copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044) endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 30 GAACTTCACTCAGGTGGATAG 0.532 NA C||| 477 0.0952476 0.0023 0.1311 5008 , , NA 20285 0.3472 NA 0.0 False NA ,,, NA NA NA 2504 0.0337 NA NA NA NA 0 C 19,4387 27.2+/-55.0 1,17,2185 79 82 81 1113 2 1 2 dbSNP_123 81 10,8590 7.7+/-29.5 0,10,4290 no coding-synonymous LOXL3 NM_032603.2 1,27,6475 GG,GC,CC 0.1163,0.4312,0.223 371/754 74763258 29,12977 2203 4300 6503 SO:0001819 synonymous_variant AF282619 CCDS1953.1, CCDS74527.1 2p13 2008-05-23 ENSG00000115318 ENSG00000115318 84695 13869 protein-coding gene gene with protein product 607163 NA 11386757 Standard NM_032603 NM_032603 NA Approved uc002smp.1 P58215 OTTHUMG00000129953 ENST00000264094.3:c.1113G>C chr2.hg19:g.74763258C>G NA D6W5J1|Q2EHP2|Q6IPL7|Q96RS1 hg19 CCDS1953.1 0.02 16.304346 ACTxAGG COVERED 214 0.09798534798534798 2 0.0040650406504065045 28 0.07734806629834254 184 0.32167832167832167 0 0.0 C 4.829 0.154146 0.09236 0.004312 0.001163 ENSG00000115318 ENST00000420535 . . . 4.95 1.95 0.26073 . . . . . T 0.00012 0.0000 . . . 0.09310 P 1.0 . . . . . . T 0.33904 -0.9850 3 . . . . 7.7023 0.28630 0.0:0.6857:0.0:0.3143 rs17010022;rs60965668;rs17010022 . . . Q 98 . . E - 1 0 LOXL3 74616766 1.000000 0.71417 0.998000 0.56505 0.985000 0.73830 3.033000 0.49743 0.281000 0.22233 0.551000 0.68910 GAG NOVEL LOXL3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252215.1 4 20.465451 KEEP 0 0 0 68 2361 CC 1 1 0 - 15 60 557 0 0 35.090501 385 60 14616 537 ENST00000264094.3 0.0375 1 DOK1 1796 __UNKNOWN__ __UNKNOWN__ 2 74781577 74781577 __UNKNOWN__ 5'UTR SNP T T C rs75192983 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:74781577T>C ENST00000233668.5 + 0 365 DOK1_ENST00000409429.1_Intron NM_001381.3 NP_001372.1 Q99704 DOK1_HUMAN docking protein 1, 62kDa (downstream of tyrosine kinase 1) NA NA cell surface receptor signaling pathway (GO:0007166)|insulin receptor signaling pathway (GO:0008286)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634) receptor signaling protein activity (GO:0005057) endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 ACCTTGGGCATATGACGTCAC 0.667 NA t||| 1783 0.35603 0.1997 0.3573 5008 , , NA 10588 0.8185 NA 0.1421 False NA ,,, NA NA NA 2504 0.3098 NA NA NA Esophageal Squamous(36;520 860 12502 33616 51270) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant U70987 CCDS1954.1, CCDS56125.1 2p13 2008-05-21 2002-08-29 ENSG00000115325 ENSG00000115325 1796 2990 protein-coding gene gene with protein product 602919 docking protein 1, 62kD (downstream of tyrosine kinase 1) NA 9008160, 9790776, 15546884 Standard NM_001381 NM_001381 NA Approved p62dok uc002sms.3 Q99704 OTTHUMG00000129956 ENST00000233668.5:c.-305T>C chr2.hg19:g.74781577T>C NA O43204|Q53TY2|Q9UHG6 hg19 CCDS1954.1 0.02 7.247959 GCAxATG COVERED NOVEL DOK1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252218.3 1 45.179683 KEEP 0 2 74 176 5218 TT 1 1 0 + 10 60 378 0 0 25.705835 174 60 6309 457 ENST00000233668.5 0.054348 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 74784913 74784913 __UNKNOWN__ IGR SNP C C G rs74335493 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:74784913C>G NA NA DOK1 (232 upstream) : M1AP (96 downstream) NA NA NA ctgtgcccctctgtaaaatgg 0.463 NA c||| 481 0.0960463 0.0023 0.134 5008 , , NA 16123 0.3423 NA 0.002 False NA ,,, NA NA NA 2504 0.0389 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.74784913C>G NA hg19 0.02 7.233715 CCTxTGT COVERED NOVEL 0 1 12.941285 KEEP 0 0 0 43 1471 CC 1 1 0 6 60 238 0 0 15.00268 191 60 7220 288 0.030457 1 SEMA4F 10505 __UNKNOWN__ __UNKNOWN__ 2 74902855 74902855 __UNKNOWN__ Intron SNP T T A rs2075212 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:74902855T>A ENST00000357877.2 + 12 1631 SEMA4F_ENST00000339773.5_Intron|SEMA4F_ENST00000473350.1_Intron NM_004263.3 NP_004254.2 O95754 SEM4F_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F NA NA axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290) endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211) receptor activity (GO:0004872) biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2) 45 TGTATTCCCCTTCCCCACTCC 0.522 NA T||| 640 0.127796 0.0151 0.0533 5008 , , NA 20281 0.3353 NA 0.0577 False NA ,,, NA NA NA 2504 0.1912 NA NA NA NA 0 T 108,4298 84.8+/-123.5 0,108,2095 91 87 88 2 0 2 dbSNP_96 88 414,8186 129.0+/-187.1 8,398,3894 no intron SEMA4F NM_004263.3 8,506,5989 AA,AT,TT 4.814,2.4512,4.0135 74902855 522,12484 2203 4300 6503 SO:0001627 intron_variant AF038652 CCDS1955.1, CCDS62942.1, CCDS74529.1 2p13.1 2008-05-21 ENSG00000135622 ENSG00000135622 10505 Semaphorins 10734 protein-coding gene gene with protein product m-Sema M 603706 SEMAM NA 10051670 Standard NM_004263 NM_004263 NA Approved SEMAW uc002sna.2 O95754 OTTHUMG00000129952 ENST00000357877.2:c.1483-21T>A chr2.hg19:g.74902855T>A NA Q542Y7|Q9NS35 hg19 CCDS1955.1 0.02 10.989508 CCCxTCC COVERED NOVEL SEMA4F-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252214.2 3 9.928256 KEEP 0 0 0 33 1007 TT 0.999998 0.999998 0 + 18 60 639 0 0 44.166935 250 60 8994 348 ENST00000357877.2 0.067164 1 SEMA4F 10505 __UNKNOWN__ __UNKNOWN__ 2 74902872 74902872 __UNKNOWN__ Intron SNP A A G rs363609|rs397835201 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:74902872A>G ENST00000357877.2 + 12 1631 SEMA4F_ENST00000339773.5_Intron|SEMA4F_ENST00000473350.1_Intron NM_004263.3 NP_004254.2 O95754 SEM4F_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F NA NA axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290) endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211) receptor activity (GO:0004872) biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2) 45 CTCCGTTTTTATAGAGCTGGC 0.542 NA G||| 2658 0.530751 0.8517 0.3127 5008 , , NA 20118 0.8204 NA 0.1471 False NA ,,, NA NA NA 2504 0.3476 NA NA NA NA 0 G 3311,1095 393.7+/-329.0 1246,819,138 92 88 89 -2.4 0.1 2 dbSNP_79 89 1210,7390 763.4+/-407.6 79,1052,3169 no intron SEMA4F NM_004263.3 1325,1871,3307 GG,GA,AA 14.0698,24.8525,34.7609 74902872 4521,8485 2203 4300 6503 SO:0001627 intron_variant AF038652 CCDS1955.1, CCDS62942.1, CCDS74529.1 2p13.1 2008-05-21 ENSG00000135622 ENSG00000135622 10505 Semaphorins 10734 protein-coding gene gene with protein product m-Sema M 603706 SEMAM NA 10051670 Standard NM_004263 NM_004263 NA Approved SEMAW uc002sna.2 O95754 OTTHUMG00000129952 ENST00000357877.2:c.1483-4A>G chr2.hg19:g.74902872A>G NA Q542Y7|Q9NS35 hg19 CCDS1955.1 0.02 9.617807 TTTxTAG COVERED NOVEL SEMA4F-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252214.2 1 2.374006 KEEP 0 2 69 32 955 AA 0.999998 0.999998 0 + 24 60 898 0 0 67.237486 219 60 7933 317 ENST00000357877.2 0.098765 1 SEMA4F 10505 __UNKNOWN__ __UNKNOWN__ 2 74907964 74907964 __UNKNOWN__ 3'UTR SNP A A G rs3771749 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:74907964A>G ENST00000357877.2 + 0 3090 NM_004263.3 NP_004254.2 O95754 SEM4F_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F NA NA axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290) endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211) receptor activity (GO:0004872) biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2) 45 GGAGGGAGACAATTGGAATGG 0.483 NA G||| 2670 0.533147 0.8578 0.317 5008 , , NA 19996 0.8204 NA 0.1471 False NA ,,, NA NA NA 2504 0.3487 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF038652 CCDS1955.1, CCDS62942.1, CCDS74529.1 2p13.1 2008-05-21 ENSG00000135622 ENSG00000135622 10505 Semaphorins 10734 protein-coding gene gene with protein product m-Sema M 603706 SEMAM NA 10051670 Standard NM_004263 NM_004263 NA Approved SEMAW uc002sna.2 O95754 OTTHUMG00000129952 ENST00000357877.2:c.*628A>G chr2.hg19:g.74907964A>G NA Q542Y7|Q9NS35 hg19 CCDS1955.1 0.02 8.95345 GACxATT COVERED NOVEL SEMA4F-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252214.2 2 3.040804 KEEP 0 1 28 20 602 AA 0.999869 0.999869 0 + 11 60 353 0 0 21.963849 194 60 6994 258 ENST00000357877.2 0.053659 1 SEMA4F 10505 __UNKNOWN__ __UNKNOWN__ 2 74908299 74908299 __UNKNOWN__ 3'UTR SNP C C T rs3025994 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:74908299C>T ENST00000357877.2 + 0 3425 NM_004263.3 NP_004254.2 O95754 SEM4F_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F NA NA axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290) endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211) receptor activity (GO:0004872) biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2) 45 AGAAGGGGAACAGTCATAGGA 0.478 NA C||| 2382 0.475639 0.6861 0.2968 5008 , , NA 20869 0.8125 NA 0.1461 False NA ,,, NA NA NA 2504 0.3098 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF038652 CCDS1955.1, CCDS62942.1, CCDS74529.1 2p13.1 2008-05-21 ENSG00000135622 ENSG00000135622 10505 Semaphorins 10734 protein-coding gene gene with protein product m-Sema M 603706 SEMAM NA 10051670 Standard NM_004263 NM_004263 NA Approved SEMAW uc002sna.2 O95754 OTTHUMG00000129952 ENST00000357877.2:c.*963C>T chr2.hg19:g.74908299C>T NA Q542Y7|Q9NS35 hg19 CCDS1955.1 0.02 4.132166 GAAxAGT COVERED NOVEL SEMA4F-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252214.2 1 4.514464 KEEP 0 0 0 15 525 CC 0.99649 0.996489 0 + 8 60 287 0 0 19.787039 111 60 4089 144 ENST00000357877.2 0.067227 0.999998 HK2 3099 __UNKNOWN__ __UNKNOWN__ 2 75118620 75118620 __UNKNOWN__ 3'UTR SNP C C A rs3732296 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:75118620C>A ENST00000409174.1 + 0 3412 HK2_ENST00000290573.2_3'UTR P52789 HXK2_HUMAN hexokinase 2 NA NA apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085) cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741) ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 43 TTAACCTCATCTACAAGCATT 0.517 NA C||| 565 0.112819 0.3018 0.0101 5008 , , NA 17354 0.1131 NA 0.006 False NA ,,, NA NA NA 2504 0.0399 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS1956.1 2p13 2010-03-19 ENSG00000159399 ENSG00000159399 3099 2.7.1.1 4923 protein-coding gene gene with protein product 601125 NA Standard NM_000189 NM_000189 NA Approved uc002snd.3 P52789 OTTHUMG00000129972 ENST00000409174.1:c.*552C>A chr2.hg19:g.75118620C>A NA D6W5J2|Q8WU87|Q9UN82 hg19 0.02 8.389134 CATxTAC COVERED NOVEL HK2-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000328629.4 0 7.522819 KEEP 0 0 0 25 845 CC 0.999931 0.999931 0 + 8 60 282 0 0 17.422566 193 60 7289 250 ENST00000409174.1 0.039801 1 EVA1A 84141 __UNKNOWN__ __UNKNOWN__ 2 75745081 75745081 __UNKNOWN__ 5'UTR SNP T T C rs2286994 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:75745081T>C ENST00000410010.1 - 0 17 EVA1A_ENST00000410113.1_Intron|EVA1A_ENST00000233712.1_Intron|EVA1A_ENST00000490746.1_Intron|EVA1A_ENST00000393913.3_Intron|EVA1A_ENST00000410071.1_Intron Q9H8M9 EVA1A_HUMAN eva-1 homolog A (C. elegans) NA NA apoptotic process (GO:0006915)|autophagy (GO:0006914) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|plasma membrane (GO:0005886) NA GATTACGTAGTGTGTCTTTAC 0.493 NA C||| 2164 0.432109 0.6142 0.3948 5008 , , NA 20931 0.3948 NA 0.3439 False NA ,,, NA NA NA 2504 0.3415 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant BC016157 CCDS1959.1 2p12 2012-11-05 2012-11-05 2012-11-05 ENSG00000115363 ENSG00000115363 84141 25816 protein-coding gene gene with protein product transmembrane protein 166, family with sequence similarity 176, member A TMEM166, FAM176A NA 12477932 Standard NM_032181 NM_001135032 NA Approved FLJ13391 uc002sni.2 Q9H8M9 OTTHUMG00000129991 ENST00000410010.1:c.-94A>G chr2.hg19:g.75745081T>C NA D6W5J3|Q9HC41 hg19 0.02 17.234669 TAGxGTG COVERED NOVEL EVA1A-010 PUTATIVE not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000328712.1 1 15.947441 KEEP 0 0 0 53 1663 TT 1 1 0 - 19 60 669 0 0 41.967664 422 60 15266 588 ENST00000410010.1 0.043084 1 MRPL19 9801 __UNKNOWN__ __UNKNOWN__ 2 75883878 75883878 __UNKNOWN__ 3'UTR SNP T T C rs13397865 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:75883878T>C ENST00000393909.2 + 0 2371 MRPL19_ENST00000358788.6_Intron|MRPL19_ENST00000409374.1_Intron NM_014763.3 NP_055578.2 P49406 RM19_HUMAN mitochondrial ribosomal protein L19 NA NA translation (GO:0006412) mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|ribosome (GO:0005840) structural constituent of ribosome (GO:0003735) kidney(1)|large_intestine(1)|lung(6) 8 ttatccattgtattgggtttt 0.358 NA T||| 2468 0.492812 0.7474 0.4553 5008 , , NA 19114 0.381 NA 0.3718 False NA ,,, NA NA NA 2504 0.4151 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB051621 CCDS1960.2 2p11.1-q11.2 2012-09-13 ENSG00000115364 ENSG00000115364 9801 Mitochondrial ribosomal proteins / large subunits 14052 protein-coding gene gene with protein product 39S ribosomal protein L19 611832 NA 11543634, 17309879 Standard NM_014763 XM_006712155 NA Approved MRP-L15, RPML15, KIAA0104, RLX1 uc002snl.3 P49406 OTTHUMG00000129990 ENST00000393909.2:c.*1467T>C chr2.hg19:g.75883878T>C NA Q53TX9|Q96Q52 hg19 CCDS1960.2 0.02 9.442736 TTGxATT COVERED NOVEL MRPL19-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252256.1 4 7.821405 KEEP 0 0 0 26 766 TT 0.999957 0.999957 0 + 11 60 425 0 0 28.593381 218 60 7542 284 ENST00000393909.2 0.048035 1 GCFC2 6936 __UNKNOWN__ __UNKNOWN__ 2 75889906 75889906 __UNKNOWN__ 3'UTR SNP A A G rs17011635 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:75889906A>G ENST00000321027.3 - 0 4365 GCFC2_ENST00000541687.1_3'UTR|MRPL19_ENST00000358788.6_Intron|MRPL19_ENST00000409374.1_Intron NM_001201334.1|NM_003203.4 NP_001188263.1|NP_003194.3 P16383 GCFC2_HUMAN GC-rich sequence DNA-binding factor 2 NA NA negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245) nucleolus (GO:0005730)|nucleus (GO:0005634)|U2-type post-mRNA release spliceosomal complex (GO:0071008) RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078) NA GAACTTAAATATATAAAGGAA 0.264 NA A||| 520 0.103834 0.1354 0.1354 5008 , , NA 15419 0.1379 NA 0.0139 False NA ,,, NA NA NA 2504 0.0961 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB026911 CCDS1961.1, CCDS62943.1 2p12 2014-01-17 2011-11-24 2011-11-24 ENSG00000005436 ENSG00000005436 6936 1317 protein-coding gene gene with protein product GC binding factor 189901 transcription factor 9 (binds GC-rich sequences), chromosome 2 open reading frame 3 TCF9, C2orf3 NA 1370479, 2556218, 17309879, 24304693 Standard NM_003203 NM_003203 NA Approved DNABF, GCF uc002sno.3 P16383 OTTHUMG00000129989 ENST00000321027.3:c.*1886T>C chr2.hg19:g.75889906A>G NA A4UHQ8|O95032|Q53TY0|Q6P2F2 hg19 CCDS1961.1 0.02 12.359419 AATxTAT COVERED NOVEL GCFC2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252255.2 6 24.97511 KEEP 0 0 0 83 2630 AA 1 1 0 - 17 60 662 0 0 46.755351 253 60 9402 471 ENST00000321027.3 0.062963 1 GCFC2 6936 __UNKNOWN__ __UNKNOWN__ 2 75897176 75897176 __UNKNOWN__ Intron SNP C C G rs13429072 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:75897176C>G ENST00000409857.3 - 15 2026 RP11-342K6.2_ENST00000604219.1_RNA|GCFC2_ENST00000541687.1_Intron|MRPL19_ENST00000358788.6_Intron|GCFC2_ENST00000321027.3_Intron|MRPL19_ENST00000409374.1_Intron P16383 GCFC2_HUMAN GC-rich sequence DNA-binding factor 2 NA NA negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245) nucleolus (GO:0005730)|nucleus (GO:0005634)|U2-type post-mRNA release spliceosomal complex (GO:0071008) RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078) NA GAGTACCACACATTTAATTAT 0.393 NA C||| 1534 0.30631 0.6929 0.2219 5008 , , NA 17155 0.2173 NA 0.1282 False NA ,,, NA NA NA 2504 0.1186 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB026911 CCDS1961.1, CCDS62943.1 2p12 2014-01-17 2011-11-24 2011-11-24 ENSG00000005436 ENSG00000005436 6936 1317 protein-coding gene gene with protein product GC binding factor 189901 transcription factor 9 (binds GC-rich sequences), chromosome 2 open reading frame 3 TCF9, C2orf3 NA 1370479, 2556218, 17309879, 24304693 Standard NM_003203 NM_003203 NA Approved DNABF, GCF uc002sno.3 P16383 OTTHUMG00000129989 ENST00000409857.3:c.1989+87G>C chr2.hg19:g.75897176C>G NA A4UHQ8|O95032|Q53TY0|Q6P2F2 hg19 0.02 2.152617 ACAxATT COVERED NOVEL GCFC2-004 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000328715.1 2 2.708685 KEEP 0 0 0 9 305 CC 0.99254 0.983572 0 - 4 60 151 0 0 10.597816 57 60 2076 77 ENST00000409857.3 0.065574 0.990964 GCFC2 6936 __UNKNOWN__ __UNKNOWN__ 2 75917889 75917889 __UNKNOWN__ Intron SNP G G T rs2301979 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:75917889G>T ENST00000409857.3 - 8 1067 GCFC2_ENST00000541687.1_Intron|GCFC2_ENST00000321027.3_Intron P16383 GCFC2_HUMAN GC-rich sequence DNA-binding factor 2 NA NA negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245) nucleolus (GO:0005730)|nucleus (GO:0005634)|U2-type post-mRNA release spliceosomal complex (GO:0071008) RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078) NA ATTCTCAAAAGAAAAAAGTAA 0.264 NA G||| 527 0.105232 0.1475 0.1326 5008 , , NA 17389 0.1359 NA 0.0139 False NA ,,, NA NA NA 2504 0.091 NA NA NA NA 0 G , 480,3918 30,420,1749 37 41 40 , 0.3 0 2 dbSNP_100 40 38,8538 0,38,4250 no intron,intron C2orf3 NM_001201334.1,NM_003203.4 , 30,458,5999 TT,TG,GG 0.4431,10.9141,3.9926 , , 75917889 518,12456 2199 4288 6487 SO:0001627 intron_variant AB026911 CCDS1961.1, CCDS62943.1 2p12 2014-01-17 2011-11-24 2011-11-24 ENSG00000005436 ENSG00000005436 6936 1317 protein-coding gene gene with protein product GC binding factor 189901 transcription factor 9 (binds GC-rich sequences), chromosome 2 open reading frame 3 TCF9, C2orf3 NA 1370479, 2556218, 17309879, 24304693 Standard NM_003203 NM_003203 NA Approved DNABF, GCF uc002sno.3 P16383 OTTHUMG00000129989 ENST00000409857.3:c.1031-44C>A chr2.hg19:g.75917889G>T NA A4UHQ8|O95032|Q53TY0|Q6P2F2 hg19 0.02 1.803965 AAAxAAA COVERED NOVEL GCFC2-004 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000328715.1 0 4.51454 KEEP 0 0 0 15 523 GG 0.99649 0.995486 0 - 5 60 166 0 0 10.937795 73 60 2718 100 ENST00000409857.3 0.064103 0.998993 LRRTM4 80059 __UNKNOWN__ __UNKNOWN__ 2 76975383 76975383 __UNKNOWN__ 3'UTR SNP A A G rs7609111 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:76975383A>G ENST00000409911.1 - 0 2437 NM_001134745.1|NM_001282924.1 NP_001128217.1|NP_001269853.1 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 NA NA alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629) alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211) autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1) 64 Colorectal(11;0.059) ATCTGTGAGAATTACACACAC 0.373 NA G||| 2533 0.505791 0.593 0.5317 5008 , , NA 14103 0.4018 NA 0.5089 False NA ,,, NA NA NA 2504 0.4734 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK122612 CCDS46346.1, CCDS46347.1, CCDS74530.1 2p12 2008-02-05 ENSG00000176204 ENSG00000176204 80059 19411 protein-coding gene gene with protein product 610870 NA 12676565 Standard NM_024993 NM_024993 NA Approved FLJ12568 uc002snr.3 Q86VH4 OTTHUMG00000152842 ENST00000409911.1:c.*438T>C chr2.hg19:g.76975383A>G NA Q4FZ98|Q6UXJ7 hg19 0.02 3.930606 AGAxTTA COVERED NOVEL LRRTM4-005 KNOWN not_organism_supported|basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000328229.1 0 7.221337 KEEP 0 0 0 24 750 AA 0.999909 0.999909 0 - 7 60 249 0 0 16.133034 135 60 4936 197 ENST00000409911.1 0.049296 1 REG3G 130120 __UNKNOWN__ __UNKNOWN__ 2 79253150 79253150 __UNKNOWN__ 5'UTR SNP A A G rs369967 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:79253150A>G ENST00000409471.1 + 0 89 REG3G_ENST00000393897.2_Intron|REG3G_ENST00000272324.5_5'UTR NM_001270040.1 NP_001256969.1 Q6UW15 REG3G_HUMAN regenerating islet-derived 3 gamma NA NA acute-phase response (GO:0006953)|defense response to Gram-positive bacterium (GO:0050830)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303) cytoplasm (GO:0005737)|extracellular region (GO:0005576) carbohydrate binding (GO:0030246) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 AGGCAGTAGGATATCTGTGTG 0.502 NA G||| 1656 0.330671 0.3949 0.3055 5008 , , NA 21610 0.3194 NA 0.2167 False NA ,,, NA NA NA 2504 0.3906 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AY359047 CCDS1962.1, CCDS58714.1 2p12 2005-02-11 ENSG00000143954 ENSG00000143954 130120 29595 protein-coding gene gene with protein product 609933 NA 12975309 Standard NM_198448 NM_001008387 NA Approved UNQ429, LPPM429, PAP1B uc002snx.4 Q6UW15 OTTHUMG00000130018 ENST00000409471.1:c.-70A>G chr2.hg19:g.79253150A>G NA A8K980|D6W5J6|Q3SYE4|Q3SYE6|Q6FH18 hg19 CCDS58714.1 0.02 22.079743 AGGxTAT COVERED NOVEL REG3G-003 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000328248.1 0 12.033908 KEEP 0 0 0 40 1261 AA 1 1 0 + 31 60 1138 0 0 79.408196 426 60 15255 610 ENST00000409471.1 0.067834 1 REG3G 130120 __UNKNOWN__ __UNKNOWN__ 2 79253375 79253375 __UNKNOWN__ Intron SNP C C T rs425846 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:79253375C>T ENST00000409471.1 + 2 234 REG3G_ENST00000393897.2_Intron|REG3G_ENST00000272324.5_Intron NM_001270040.1 NP_001256969.1 Q6UW15 REG3G_HUMAN regenerating islet-derived 3 gamma NA NA acute-phase response (GO:0006953)|defense response to Gram-positive bacterium (GO:0050830)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303) cytoplasm (GO:0005737)|extracellular region (GO:0005576) carbohydrate binding (GO:0030246) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 CTGTGTGTCACGTGAGGTAAT 0.502 NA C||| 1652 0.329872 0.3949 0.3055 5008 , , NA 21302 0.3175 NA 0.2167 False NA ,,, NA NA NA 2504 0.3885 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY359047 CCDS1962.1, CCDS58714.1 2p12 2005-02-11 ENSG00000143954 ENSG00000143954 130120 29595 protein-coding gene gene with protein product 609933 NA 12975309 Standard NM_198448 NM_001008387 NA Approved UNQ429, LPPM429, PAP1B uc002snx.4 Q6UW15 OTTHUMG00000130018 ENST00000409471.1:c.76+80C>T chr2.hg19:g.79253375C>T NA A8K980|D6W5J6|Q3SYE4|Q3SYE6|Q6FH18 hg19 CCDS58714.1 0.02 8.8289 TCAxGTG COVERED NOVEL REG3G-003 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000328248.1 0 4.212772 KEEP 0 0 0 14 450 CC 0.995343 0.995343 0 + 9 60 331 0 0 21.308407 199 60 6455 240 ENST00000409471.1 0.043269 1 REG3G 130120 __UNKNOWN__ __UNKNOWN__ 2 79254065 79254065 __UNKNOWN__ Intron SNP C C T rs431912 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:79254065C>T ENST00000409471.1 + 3 353 REG3G_ENST00000393897.2_Intron|REG3G_ENST00000272324.5_Intron NM_001270040.1 NP_001256969.1 Q6UW15 REG3G_HUMAN regenerating islet-derived 3 gamma NA NA acute-phase response (GO:0006953)|defense response to Gram-positive bacterium (GO:0050830)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303) cytoplasm (GO:0005737)|extracellular region (GO:0005576) carbohydrate binding (GO:0030246) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 GATGAACACGCTTATCTTTCA 0.547 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY359047 CCDS1962.1, CCDS58714.1 2p12 2005-02-11 ENSG00000143954 ENSG00000143954 130120 29595 protein-coding gene gene with protein product 609933 NA 12975309 Standard NM_198448 NM_001008387 NA Approved UNQ429, LPPM429, PAP1B uc002snx.4 Q6UW15 OTTHUMG00000130018 ENST00000409471.1:c.195+108C>T chr2.hg19:g.79254065C>T NA A8K980|D6W5J6|Q3SYE4|Q3SYE6|Q6FH18 hg19 CCDS58714.1 0.02 15.49749 ACGxTTA COVERED NOVEL REG3G-003 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000328248.1 2 2.943492 KEEP 0 1 26 19 691 CC 0.999863 0.999863 0 + 14 60 492 0 0 29.363251 398 60 14874 480 ENST00000409471.1 0.033981 1 REG3G 130120 __UNKNOWN__ __UNKNOWN__ 2 79254101 79254101 __UNKNOWN__ Intron SNP T T G rs396461 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:79254101T>G ENST00000409471.1 + 3 353 REG3G_ENST00000393897.2_Intron|REG3G_ENST00000272324.5_Intron NM_001270040.1 NP_001256969.1 Q6UW15 REG3G_HUMAN regenerating islet-derived 3 gamma NA NA acute-phase response (GO:0006953)|defense response to Gram-positive bacterium (GO:0050830)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303) cytoplasm (GO:0005737)|extracellular region (GO:0005576) carbohydrate binding (GO:0030246) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 ACCTACCTTTTCCCTGCCCTC 0.557 NA G||| 2310 0.461262 0.5159 0.415 5008 , , NA 17526 0.4494 NA 0.338 False NA ,,, NA NA NA 2504 0.5593 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY359047 CCDS1962.1, CCDS58714.1 2p12 2005-02-11 ENSG00000143954 ENSG00000143954 130120 29595 protein-coding gene gene with protein product 609933 NA 12975309 Standard NM_198448 NM_001008387 NA Approved UNQ429, LPPM429, PAP1B uc002snx.4 Q6UW15 OTTHUMG00000130018 ENST00000409471.1:c.195+144T>G chr2.hg19:g.79254101T>G NA A8K980|D6W5J6|Q3SYE4|Q3SYE6|Q6FH18 hg19 CCDS58714.1 0.02 26.782974 TTTxCCC COVERED NOVEL REG3G-003 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000328248.1 7 5.948705 KEEP 0 1 29 30 895 TT 0.999997 0.999997 0 + 32 60 1244 0 0 85.935131 547 60 19472 697 ENST00000409471.1 0.055268 1 REG1A 5967 __UNKNOWN__ __UNKNOWN__ 2 79350505 79350505 __UNKNOWN__ 3'UTR SNP C C T rs12072 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:79350505C>T ENST00000233735.1 + 0 768 NM_002909.4 NP_002900.2 P05451 REG1A_HUMAN regenerating islet-derived 1 alpha NA NA positive regulation of cell proliferation (GO:0008284) extracellular vesicular exosome (GO:0070062) carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083) NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1) 39 CTTTGGAACCCTAAATAATAA 0.418 NA C||| 1637 0.326877 0.1498 0.3127 5008 , , NA 19040 0.495 NA 0.3887 False NA ,,, NA NA NA 2504 0.3395 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS1964.1 2p12 2008-09-04 2008-06-04 ENSG00000115386 ENSG00000115386 5967 9951 protein-coding gene gene with protein product pancreatic stone protein, pancreatic thread protein 167770 regenerating islet-derived 1 alpha (pancreatic stone protein, pancreatic thread protein) REG NA 2332435, 8333731 Standard NM_002909 NM_002909 NA Approved PSP, PTP, PSPS, PSPS1 uc002snz.3 P05451 OTTHUMG00000130016 ENST00000233735.1:c.*164C>T chr2.hg19:g.79350505C>T NA P11379|Q4ZG28 hg19 CCDS1964.1 0.02 31.439931 ACCxTAA COVERED NOVEL REG1A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252289.1 1 18.960603 KEEP 0 0 0 63 2230 CC 1 1 0 + 35 60 1286 1 0 84.624208 681 60 25561 924 ENST00000233735.1 0.048883 1 REG3A 5068 __UNKNOWN__ __UNKNOWN__ 2 79385758 79385758 __UNKNOWN__ Intron SNP A A C rs80188986 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:79385758A>C ENST00000409839.3 - 3 232 REG3A_ENST00000393878.1_Intron|REG3A_ENST00000305165.2_Intron|AC011754.1_ENST00000415201.1_RNA NM_002580.2|NM_138937.2 NP_002571.1|NP_620354.1 Q06141 REG3A_HUMAN regenerating islet-derived 3 alpha NA NA acute-phase response (GO:0006953)|cell proliferation (GO:0008283)|heterophilic cell-cell adhesion (GO:0007157)|multicellular organismal development (GO:0007275)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303) cytoplasm (GO:0005737)|extracellular space (GO:0005615) carbohydrate binding (GO:0030246) breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1) 50 CACCTCCAACACCACATCTAA 0.527 NA NA NA NA NA NA NA NA NA NA NA 0 120 110 113 NA NA 2 NA 79385758 2203 4300 6503 SO:0001627 intron_variant S51768 CCDS1965.1 2p12 2008-02-05 2005-02-11 2005-02-11 ENSG00000172016 ENSG00000172016 5068 8601 protein-coding gene gene with protein product 167805 pancreatitis-associated protein PAP NA 8188210 Standard NM_002580 NM_002580 NA Approved HIP, REG-III, REG3, PBCGF, PAP1 uc002sof.2 Q06141 OTTHUMG00000130017 ENST00000409839.3:c.195+18T>G chr2.hg19:g.79385758A>C NA hg19 CCDS1965.1 0.02 6.671111 AACxCCA COVERED NOVEL REG3A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252290.2 8 3.009169 KEEP 0 0 0 10 313 AA 0.992708 0.992708 0 - 10 60 329 0 0 21.017588 180 60 6248 237 ENST00000409839.3 0.052632 1 CTNNA2 1496 __UNKNOWN__ __UNKNOWN__ 2 79914803 79914803 __UNKNOWN__ 3'UTR SNP A A C rs78803334 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:79914803A>C ENST00000409266.1 + 0 380 CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000541047.1_Intron P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 NA NA axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337) actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027) structural constituent of cytoskeleton (GO:0005200) breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 CATGAAAATAACTTAAAAAAC 0.294 NA A||| 260 0.0519169 0.0484 0.0086 5008 , , NA 16621 0.1071 NA 0.004 False NA ,,, NA NA NA 2504 0.0798 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1 2p12-p11.1 2010-05-04 ENSG00000066032 ENSG00000066032 1496 2510 protein-coding gene gene with protein product cadherin-associated protein, related, cancer/testis antigen 114 114025 NA 8432524 Standard NM_004389 NM_004389 NA Approved CAP-R, CT114 uc010ysf.2 P26232 OTTHUMG00000152903 ENST00000409266.1:c.*81A>C chr2.hg19:g.79914803A>C NA B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0 hg19 0.02 9.392934 ATAxCTT COVERED NOVEL CTNNA2-005 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000328513.2 0 11.132001 KEEP 0 0 0 37 1143 AA 1 1 0 + 8 60 283 0 0 16.505143 260 60 9289 363 ENST00000409266.1 0.029851 1 CTNNA2 1496 __UNKNOWN__ __UNKNOWN__ 2 80529956 80529956 __UNKNOWN__ Intron SNP T T C rs6733871 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:80529956T>C ENST00000402739.4 + 7 1061 CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000540488.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.N330S|LRRTM1_ENST00000295057.3_Missense_Mutation_p.N330S|CTNNA2_ENST00000541047.1_Intron NM_001282597.1 NP_001269526.1 P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 NA NA axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337) actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027) structural constituent of cytoskeleton (GO:0005200) breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 CTGGAAGTTGTTGAGCCACGA 0.642 NA C||| 1840 0.367412 0.5076 0.3213 5008 , , NA 19987 0.4831 NA 0.1839 False NA ,,, NA NA NA 2504 0.2802 NA NA NA NA 0 C ,,SER/ASN 1982,2424 604.8+/-390.4 471,1040,692 34 32 32 ,,989 3.5 1 2 dbSNP_116 32 1535,7065 732.0+/-406.8 137,1261,2902 yes intron,intron,missense CTNNA2,LRRTM1 NM_001164883.1,NM_004389.3,NM_178839.4 ,,46 608,2301,3594 CC,CT,TT 17.8488,44.9841,27.0414 ,,benign ,,330/523 80529956 3517,9489 2203 4300 6503 SO:0001627 intron_variant CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1 2p12-p11.1 2010-05-04 ENSG00000066032 ENSG00000066032 1496 2510 protein-coding gene gene with protein product cadherin-associated protein, related, cancer/testis antigen 114 114025 NA 8432524 Standard NM_004389 NM_004389 NA Approved CAP-R, CT114 uc010ysf.2 P26232 OTTHUMG00000152903 ENST00000402739.4:c.1057-90380T>C chr2.hg19:g.80529956T>C NA B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0 hg19 0.02 9.174675 TTGxTGA COVERED 801 0.36675824175824173 238 0.483739837398374 103 0.2845303867403315 317 0.5541958041958042 143 0.18865435356200527 C 3.194 -0.165220 0.06461 0.449841 0.178488 ENSG00000162951 ENST00000295057;ENST00000409148 T;T 0.39406 1.08;1.08 5.26 3.46 0.39613 . 0.048240 0.85682 N 0.000000 T 0.00012 0.0000 N 0.00237 -1.79 0.58432 P 6.999999999979245E-6 B 0.02656 0.0 B 0.01281 0.0 T 0.45454 -0.9260 8 . . . . 10.5735 0.45214 0.0:0.7891:0.0:0.2109 rs6733871;rs17846373;rs17859410;rs58032559;rs6733871 330 Q86UE6 LRRT1_HUMAN S 330 ENSP00000295057:N330S;ENSP00000386646:N330S . N - 2 0 LRRTM1 80383467 1.000000 0.71417 0.999000 0.59377 0.948000 0.59901 2.149000 0.42244 0.219000 0.20840 -0.766000 0.03442 AAC NOVEL CTNNA2-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000328511.4 3 5.717563 KEEP 0 0 0 19 602 TT 0.99986 0.99986 0 + 14 60 528 0 1 36.104363 234 60 8231 309 ENST00000402739.4 0.056452 1 CTNNA2 1496 __UNKNOWN__ __UNKNOWN__ 2 80540600 80540600 __UNKNOWN__ Intron SNP C C T rs17018984 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:80540600C>T ENST00000402739.4 + 7 1061 CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000343114.3_5'UTR|CTNNA2_ENST00000541047.1_Intron NM_001282597.1 NP_001269526.1 P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 NA NA axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337) actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027) structural constituent of cytoskeleton (GO:0005200) breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 CATGCTATGGCAGAGATGTAA 0.423 NA C||| 555 0.110823 0.0242 0.134 5008 , , NA 21001 0.25 NA 0.0865 False NA ,,, NA NA NA 2504 0.093 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1 2p12-p11.1 2010-05-04 ENSG00000066032 ENSG00000066032 1496 2510 protein-coding gene gene with protein product cadherin-associated protein, related, cancer/testis antigen 114 114025 NA 8432524 Standard NM_004389 NM_004389 NA Approved CAP-R, CT114 uc010ysf.2 P26232 OTTHUMG00000152903 ENST00000402739.4:c.1057-79736C>T chr2.hg19:g.80540600C>T NA B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0 hg19 0.02 35.014421 TGGxAGA COVERED NOVEL CTNNA2-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000328511.4 1 15.651492 KEEP 0 0 0 52 1882 CC 1 1 0 + 44 60 1524 0 0 97.714046 830 60 31700 1074 ENST00000402739.4 0.050343 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 83085007 83085007 __UNKNOWN__ IGR SNP T T A rs78525531 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:83085007T>A NA NA AC010105.1 (319172 upstream) : AC010744.1 (664930 downstream) NA NA NA TATTTCTGTCTCAGACTGGGG 0.378 NA T||| 322 0.0642971 0.0008 0.0173 5008 , , NA 20286 0.254 NA 0.0119 False NA ,,, NA NA NA 2504 0.0419 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.83085007T>A NA hg19 0.02 6.630193 GTCxCAG COVERED NOVEL 0 1 4.212761 KEEP 0 0 0 14 438 TT 0.995343 0.995343 0 15 60 545 0 0 40.393168 137 60 4876 169 0.098684 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 83085008 83085008 __UNKNOWN__ IGR SNP C C A rs77268966 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:83085008C>A NA NA AC010105.1 (319173 upstream) : AC010744.1 (664929 downstream) NA NA NA ATTTCTGTCTCAGACTGGGGA 0.373 NA C||| 322 0.0642971 0.0008 0.0173 5008 , , NA 20418 0.254 NA 0.0119 False NA ,,, NA NA NA 2504 0.0419 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.83085008C>A NA hg19 0.02 4.567927 TCTxAGA COVERED NOVEL 0 1 4.213374 KEEP 0 0 0 14 476 CC 0.995343 0.995343 0 14 60 488 0 0 35.376866 135 60 5078 167 0.09396 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 83446208 83446208 __UNKNOWN__ IGR SNP T T C rs7591274 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:83446208T>C NA NA AC010105.1 (680373 upstream) : AC010744.1 (303729 downstream) NA NA NA GACAATTCTATGGCCACATCC 0.448 NA T||| 2624 0.523962 0.2352 0.5245 5008 , , NA 18298 0.8948 NA 0.5417 False NA ,,, NA NA NA 2504 0.5133 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.83446208T>C NA hg19 0.02 2.180254 CTAxGGC COVERED NOVEL 0 0 3.310032 KEEP 0 0 0 11 349 TT 0.993072 0.992954 0 5 60 177 0 0 11.654393 87 60 3183 118 0.054348 0.999881 SUCLG1 8802 __UNKNOWN__ __UNKNOWN__ 2 84668320 84668320 __UNKNOWN__ Intron SNP T T A rs80272300 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:84668320T>A ENST00000393868.2 - 4 742 NM_003849.3 NP_003840.2 P53597 SUCA_HUMAN succinate-CoA ligase, alpha subunit NA NA cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|tricarboxylic acid cycle (GO:0006099) extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|succinate-CoA ligase complex (GDP-forming) (GO:0045244) ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)|succinate-CoA ligase (GDP-forming) activity (GO:0004776) kidney(4)|large_intestine(4)|lung(2) 10 Succinic acid(DB00139) CAAAGCTGTTTAGCCTTGTGA 0.398 NA T||| 142 0.0283546 0.0507 0.0058 5008 , , NA 20244 0.0595 NA 0.0 False NA ,,, NA NA NA 2504 0.0112 NA NA NA Ovarian(48;203 1101 37206 40305 50790) NA 0 T 189,4217 118.8+/-156.5 5,179,2019 47 46 46 -11 0 2 dbSNP_132 46 2,8598 2.2+/-6.3 0,2,4298 no intron SUCLG1 NM_003849.3 5,181,6317 AA,AT,TT 0.0233,4.2896,1.4686 84668320 191,12815 2203 4300 6503 SO:0001627 intron_variant Z68204 CCDS1967.2 2p11.3 2008-02-05 2008-01-08 ENSG00000163541 ENSG00000163541 8802 6.2.1.4 11449 protein-coding gene gene with protein product 611224 succinate-CoA ligase, GDP-forming, alpha subunit NA 9128182 Standard NM_003849 NM_003849 NA Approved uc002son.3 P53597 OTTHUMG00000130023 ENST00000393868.2:c.531+50A>T chr2.hg19:g.84668320T>A NA Q9BWB0|Q9UNP6 hg19 CCDS1967.2 0.02 10.268896 GTTxAGC COVERED NOVEL SUCLG1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252298.2 1 21.963213 KEEP 0 0 0 73 2211 TT 1 1 0 - 10 60 359 0 0 22.289539 249 60 8954 428 ENST00000393868.2 0.03861 1 SUCLG1 8802 __UNKNOWN__ __UNKNOWN__ 2 84686526 84686526 __UNKNOWN__ 5'UTR SNP G G A rs12621740 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:84686526G>A ENST00000393868.2 - 0 78 NM_003849.3 NP_003840.2 P53597 SUCA_HUMAN succinate-CoA ligase, alpha subunit NA NA cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|tricarboxylic acid cycle (GO:0006099) extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|succinate-CoA ligase complex (GDP-forming) (GO:0045244) ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)|succinate-CoA ligase (GDP-forming) activity (GO:0004776) kidney(4)|large_intestine(4)|lung(2) 10 Succinic acid(DB00139) GGGAATGGCAGGTGAAGACAA 0.507 NA G||| 132 0.0263578 0.0431 0.0058 5008 , , NA 17917 0.0595 NA 0.0 False NA ,,, NA NA NA 2504 0.0112 NA NA NA Ovarian(48;203 1101 37206 40305 50790) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant Z68204 CCDS1967.2 2p11.3 2008-02-05 2008-01-08 ENSG00000163541 ENSG00000163541 8802 6.2.1.4 11449 protein-coding gene gene with protein product 611224 succinate-CoA ligase, GDP-forming, alpha subunit NA 9128182 Standard NM_003849 NM_003849 NA Approved uc002son.3 P53597 OTTHUMG00000130023 ENST00000393868.2:c.-133C>T chr2.hg19:g.84686526G>A NA Q9BWB0|Q9UNP6 hg19 CCDS1967.2 0.02 30.442279 GCAxGTG COVERED NOVEL SUCLG1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252298.2 3 86.082884 KEEP 0 0 0 286 10425 GG 1 1 0 - 21 60 779 0 0 46.756813 696 60 26327 1292 ENST00000393868.2 0.029289 1 TGOLN2 10618 __UNKNOWN__ __UNKNOWN__ 2 85555191 85555191 __UNKNOWN__ 5'UTR SNP C C A rs28365983 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:85555191C>A ENST00000377386.3 - 0 357 TGOLN2_ENST00000282120.2_5'UTR|TGOLN2_ENST00000398263.2_5'UTR O43493 TGON2_HUMAN trans-golgi network protein 2 NA NA Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133) NA CTCCCGCTGCCGCCAAGACGA 0.677 NA C||| 99 0.0197684 0.0 0.0173 5008 , , NA 12403 0.0833 NA 0.0 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF027515 CCDS46351.1, CCDS56126.1, CCDS56127.1 2p11.2 2012-06-25 ENSG00000152291 ENSG00000152291 10618 15450 protein-coding gene gene with protein product trans-Golgi network protein (46, 48, 51kD isoforms) 603062 NA 9422759, 21994457 Standard NM_006464 NM_001206840 NA Approved TGN51, TGN46, TGN48, TGN38, TTGN2 uc021vjw.1 O43493 OTTHUMG00000153017 ENST00000377386.3:c.-106G>T chr2.hg19:g.85555191C>A NA B2R686|B8ZZ88|D6W5K3|F8WBK2|O15282|O43492|O43499|O43500|O43501|Q53G68|Q53GV2|Q6MZV1|Q6ZTM7|Q8N6T8|Q92760|Q96QL2 hg19 CCDS46351.1 0.02 4.138795 TGCxGCC COVERED NOVEL TGOLN2-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000329025.2 1 15.347447 KEEP 0 0 0 51 1682 CC 1 1 0 - 5 60 180 0 0 11.008139 136 60 4629 209 ENST00000377386.3 0.035461 1 TGOLN2 10618 __UNKNOWN__ __UNKNOWN__ 2 85555357 85555357 __UNKNOWN__ 5'UTR SNP G G T rs17026228 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:85555357G>T ENST00000377386.3 - 0 191 TGOLN2_ENST00000282120.2_5'UTR|TGOLN2_ENST00000398263.2_5'UTR O43493 TGON2_HUMAN trans-golgi network protein 2 NA NA Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133) NA CCTCCGCCTCGTACTTCCGAG 0.627 NA G||| 99 0.0197684 0.0 0.0173 5008 , , NA 15949 0.0833 NA 0.0 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF027515 CCDS46351.1, CCDS56126.1, CCDS56127.1 2p11.2 2012-06-25 ENSG00000152291 ENSG00000152291 10618 15450 protein-coding gene gene with protein product trans-Golgi network protein (46, 48, 51kD isoforms) 603062 NA 9422759, 21994457 Standard NM_006464 NM_001206840 NA Approved TGN51, TGN46, TGN48, TGN38, TTGN2 uc021vjw.1 O43493 OTTHUMG00000153017 ENST00000377386.3:c.-272C>A chr2.hg19:g.85555357G>T NA B2R686|B8ZZ88|D6W5K3|F8WBK2|O15282|O43492|O43499|O43500|O43501|Q53G68|Q53GV2|Q6MZV1|Q6ZTM7|Q8N6T8|Q92760|Q96QL2 hg19 CCDS46351.1 0.02 10.317344 CTCxTAC COVERED NOVEL TGOLN2-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000329025.2 4 55.32658 KEEP 0 0 0 184 6232 GG 1 1 0 - 15 60 542 0 0 35.52628 284 60 9768 602 ENST00000377386.3 0.050167 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 85568217 85568217 __UNKNOWN__ IGR SNP G G A rs181157505 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:85568217G>A NA NA Y_RNA (8098 upstream) : RETSAT (993 downstream) NA NA NA AAATCAGAGTGAGTGAGTAAA 0.438 NA G||| 9 0.00179712 0.0 0.0 5008 , , NA 17849 0.0089 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.85568217G>A NA hg19 0.02 18.939853 AGTxAGT COVERED NOVEL 0 1 21.066071 KEEP 1 0 0 70 2369 GG 1 1 0 14 60 507 0 0 30.151742 448 60 16948 627 0.030303 1 RETSAT 54884 __UNKNOWN__ __UNKNOWN__ 2 85571433 85571433 __UNKNOWN__ Missense_Mutation SNP G G A rs76973216 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:85571433G>A ENST00000295802.4 - 8 1407 c.1295C>T c.(1294-1296)gCg>gTg p.A432V RETSAT_ENST00000457495.2_Missense_Mutation_p.A371V|RETSAT_ENST00000263854.6_Missense_Mutation_p.A432V|RETSAT_ENST00000475624.2_5'UTR NM_017750.3 NP_060220.3 Q6NUM9 RETST_HUMAN retinol saturase (all-trans-retinol 13,14-reductase) 432 NA oxidation-reduction process (GO:0055114)|retinol metabolic process (GO:0042572) endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640) all-trans-retinol 13,14-reductase activity (GO:0051786)|oxidoreductase activity (GO:0016491) NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 30 Vitamin A(DB00162) GATGTGTTCCGCAGCCTCTTC 0.582 NA G||| 92 0.0183706 0.0 0.0202 5008 , , NA 19642 0.0744 NA 0.0 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 G VAL/ALA 2,4404 4.2+/-10.8 0,2,2201 90 86 87 1295 -0.6 0 2 dbSNP_131 87 2,8598 2.2+/-6.3 0,2,4298 no missense RETSAT NM_017750.3 64 0,4,6499 AA,AG,GG 0.0233,0.0454,0.0308 benign 432/611 85571433 4,13002 2203 4300 6503 SO:0001583 missense AK075261 CCDS1972.1 2p11.2 2008-02-05 ENSG00000042445 ENSG00000042445 54884 1.3.99.23 25991 protein-coding gene gene with protein product NA 12975309, 15358783 Standard NM_017750 NM_017750 NA Approved FLJ20296 uc002spd.3 Q6NUM9 OTTHUMG00000154611 ENST00000295802.4:c.1295C>T chr2.hg19:g.85571433G>A ENSP00000295802:p.Ala432Val NA A6NIK3|Q53R95|Q53SA9|Q6UX05|Q8N2H5|Q96FA4|Q9NXE5 hg19 CCDS1972.1 0.02 8.264853 TCCxCAG COVERED 54|54 0.024725274725274724|0.024725274725274724 0|0 0.0|0.0 9|9 0.024861878453038673|0.024861878453038673 45|45 0.07867132867132867|0.07867132867132867 0|0 0.0|0.0 G|G 8.963|8.963 0.971163|0.971163 0.18659|0.18659 4.54E-4|4.54E-4 2.33E-4|2.33E-4 ENSG00000042445|ENSG00000042445 ENST00000295802;ENST00000263854;ENST00000457495|ENST00000449375 T;T|. 0.26223|. 1.77;1.75|. 4.58|4.58 -0.625|-0.625 0.11548|0.11548 .|. 0.627229|. 0.17076|. N|. 0.187989|. T|T 0.01976|0.01976 0.0062|0.0062 L|L 0.36672|0.36672 1.1|1.1 0.09310|0.09310 N|N 1|1 B;B;B|. 0.24317|. 0.101;0.101;0.015|. B;B;B|. 0.23275|. 0.045;0.034;0.005|. T|T 0.11421|0.11421 -1.0588|-1.0588 10|5 0.27082|. T|. 0.32|. 3.1347|3.1347 9.5285|9.5285 0.39180|0.39180 0.4255:0.0:0.5745:0.0|0.4255:0.0:0.5745:0.0 .|. 371;371;432|. G5E9N3;B4DKE1;Q6NUM9|. .;.;RETST_HUMAN|. V|W 432;432;371|221 ENSP00000295802:A432V;ENSP00000405040:A371V|. ENSP00000263854:A432V|. A|R -|- 2|1 0|2 RETSAT|RETSAT 85424944|85424944 0.001000|0.001000 0.12720|0.12720 0.001000|0.001000 0.08648|0.08648 0.255000|0.255000 0.26057|0.26057 0.944000|0.944000 0.29043|0.29043 -0.102000|-0.102000 0.12197|0.12197 0.561000|0.561000 0.74099|0.74099 GCG|CGG NOVEL RETSAT-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252489.1 1 6.921997 KEEP 0 0 0 23 789 GG 0.999892 0.999892 0 - 10 60 337 0 0 21.22007 194 60 6669 287 ENST00000295802.4 0.04902 1 RETSAT 54884 __UNKNOWN__ __UNKNOWN__ 2 85577369 85577369 __UNKNOWN__ Intron SNP G G A rs950361 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:85577369G>A ENST00000295802.4 - 4 710 RETSAT_ENST00000457495.2_Intron|RETSAT_ENST00000263854.6_Intron NM_017750.3 NP_060220.3 Q6NUM9 RETST_HUMAN retinol saturase (all-trans-retinol 13,14-reductase) NA NA oxidation-reduction process (GO:0055114)|retinol metabolic process (GO:0042572) endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640) all-trans-retinol 13,14-reductase activity (GO:0051786)|oxidoreductase activity (GO:0016491) NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 30 Vitamin A(DB00162) TACCACCTGGGGGAGTGAATG 0.567 NA G||| 248 0.0495208 0.1135 0.0288 5008 , , NA 16275 0.0744 NA 0.0 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 G 403,4003 196.0+/-220.5 16,371,1816 53 50 51 3.9 0.2 2 dbSNP_86 51 5,8595 4.3+/-15.6 0,5,4295 no intron RETSAT NM_017750.3 16,376,6111 AA,AG,GG 0.0581,9.1466,3.137 85577369 408,12598 2203 4300 6503 SO:0001627 intron_variant AK075261 CCDS1972.1 2p11.2 2008-02-05 ENSG00000042445 ENSG00000042445 54884 1.3.99.23 25991 protein-coding gene gene with protein product NA 12975309, 15358783 Standard NM_017750 NM_017750 NA Approved FLJ20296 uc002spd.3 Q6NUM9 OTTHUMG00000154611 ENST00000295802.4:c.598-5C>T chr2.hg19:g.85577369G>A NA A6NIK3|Q53R95|Q53SA9|Q6UX05|Q8N2H5|Q96FA4|Q9NXE5 hg19 CCDS1972.1 0.02 8.13726 TGGxGGA COVERED NOVEL RETSAT-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252489.1 1 17.156016 KEEP 0 0 0 57 2033 GG 1 1 0 - 7 60 255 0 0 15.562478 200 60 7359 327 ENST00000295802.4 0.033816 1 RETSAT 54884 __UNKNOWN__ __UNKNOWN__ 2 85577854 85577854 __UNKNOWN__ Intron SNP C C G rs73945713 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:85577854C>G ENST00000295802.4 - 3 710 RETSAT_ENST00000457495.2_Intron|RETSAT_ENST00000263854.6_Intron NM_017750.3 NP_060220.3 Q6NUM9 RETST_HUMAN retinol saturase (all-trans-retinol 13,14-reductase) NA NA oxidation-reduction process (GO:0055114)|retinol metabolic process (GO:0042572) endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640) all-trans-retinol 13,14-reductase activity (GO:0051786)|oxidoreductase activity (GO:0016491) NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 30 Vitamin A(DB00162) AATAAAGAAACCCAGCCTTAT 0.488 NA G||| 248 0.0495208 0.1135 0.0288 5008 , , NA 21364 0.0744 NA 0.0 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 G 401,4005 785.4+/-414.7 16,369,1818 87 90 89 0.6 0 2 dbSNP_130 89 5,8595 819.0+/-406.8 0,5,4295 no intron RETSAT NM_017750.3 16,374,6113 GG,GC,CC 0.0581,9.1012,3.1216 85577854 406,12600 2203 4300 6503 SO:0001627 intron_variant AK075261 CCDS1972.1 2p11.2 2008-02-05 ENSG00000042445 ENSG00000042445 54884 1.3.99.23 25991 protein-coding gene gene with protein product NA 12975309, 15358783 Standard NM_017750 NM_017750 NA Approved FLJ20296 uc002spd.3 Q6NUM9 OTTHUMG00000154611 ENST00000295802.4:c.597+48G>C chr2.hg19:g.85577854C>G NA A6NIK3|Q53R95|Q53SA9|Q6UX05|Q8N2H5|Q96FA4|Q9NXE5 hg19 CCDS1972.1 0.02 2.315224 AAAxCCA COVERED NOVEL RETSAT-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252489.1 1 6.922514 KEEP 0 0 0 23 806 CC 0.999892 0.999696 0 - 4 60 153 0 0 10.144044 84 60 3105 128 ENST00000295802.4 0.045455 0.999804 RETSAT 54884 __UNKNOWN__ __UNKNOWN__ 2 85577857 85577857 __UNKNOWN__ Intron SNP A A G rs73945715 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:85577857A>G ENST00000295802.4 - 3 710 RETSAT_ENST00000457495.2_Intron|RETSAT_ENST00000263854.6_Intron NM_017750.3 NP_060220.3 Q6NUM9 RETST_HUMAN retinol saturase (all-trans-retinol 13,14-reductase) NA NA oxidation-reduction process (GO:0055114)|retinol metabolic process (GO:0042572) endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640) all-trans-retinol 13,14-reductase activity (GO:0051786)|oxidoreductase activity (GO:0016491) NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 30 Vitamin A(DB00162) AAAGAAACCCAGCCTTATCGA 0.493 NA A||| 248 0.0495208 0.1135 0.0288 5008 , , NA 21527 0.0744 NA 0.0 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 A 403,4003 197.1+/-221.3 16,371,1816 95 96 96 0.6 0 2 dbSNP_130 96 5,8595 4.3+/-15.6 0,5,4295 no intron RETSAT NM_017750.3 16,376,6111 GG,GA,AA 0.0581,9.1466,3.137 85577857 408,12598 2203 4300 6503 SO:0001627 intron_variant AK075261 CCDS1972.1 2p11.2 2008-02-05 ENSG00000042445 ENSG00000042445 54884 1.3.99.23 25991 protein-coding gene gene with protein product NA 12975309, 15358783 Standard NM_017750 NM_017750 NA Approved FLJ20296 uc002spd.3 Q6NUM9 OTTHUMG00000154611 ENST00000295802.4:c.597+45T>C chr2.hg19:g.85577857A>G NA A6NIK3|Q53R95|Q53SA9|Q6UX05|Q8N2H5|Q96FA4|Q9NXE5 hg19 CCDS1972.1 0.02 1.455678 CCCxGCC COVERED NOVEL RETSAT-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252489.1 1 6.620096 KEEP 0 0 0 22 696 AA 0.999879 0.999798 0 - 4 60 133 0 0 8.011681 91 60 3282 135 ENST00000295802.4 0.042105 0.999919 RETSAT 54884 __UNKNOWN__ __UNKNOWN__ 2 85578702 85578702 __UNKNOWN__ Intron SNP C C T rs73945718 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:85578702C>T ENST00000295802.4 - 2 468 RETSAT_ENST00000457495.2_Intron|RETSAT_ENST00000263854.6_Intron NM_017750.3 NP_060220.3 Q6NUM9 RETST_HUMAN retinol saturase (all-trans-retinol 13,14-reductase) NA NA oxidation-reduction process (GO:0055114)|retinol metabolic process (GO:0042572) endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640) all-trans-retinol 13,14-reductase activity (GO:0051786)|oxidoreductase activity (GO:0016491) NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 30 Vitamin A(DB00162) GAAGATGGCACTTCCAAAACA 0.488 NA C||| 234 0.0467252 0.1036 0.0274 5008 , , NA 20236 0.0744 NA 0.0 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK075261 CCDS1972.1 2p11.2 2008-02-05 ENSG00000042445 ENSG00000042445 54884 1.3.99.23 25991 protein-coding gene gene with protein product NA 12975309, 15358783 Standard NM_017750 NM_017750 NA Approved FLJ20296 uc002spd.3 Q6NUM9 OTTHUMG00000154611 ENST00000295802.4:c.355+100G>A chr2.hg19:g.85578702C>T NA A6NIK3|Q53R95|Q53SA9|Q6UX05|Q8N2H5|Q96FA4|Q9NXE5 hg19 CCDS1972.1 0.02 4.101732 GCAxTTC COVERED NOVEL RETSAT-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252489.1 1 8.427155 KEEP 0 0 0 28 971 CC 0.999997 0.999997 0 - 6 60 198 0 0 12.056885 128 60 4535 178 ENST00000295802.4 0.044776 1 ELMOD3 84173 __UNKNOWN__ __UNKNOWN__ 2 85596739 85596739 __UNKNOWN__ Intron SNP A A G rs3821021 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:85596739A>G ENST00000409890.2 + 8 935 ELMOD3_ENST00000428955.2_Intron|ELMOD3_ENST00000409013.3_Intron|ELMOD3_ENST00000409344.3_Intron|ELMOD3_ENST00000315658.7_Intron|ELMOD3_ENST00000393852.4_Intron|ELMOD3_ENST00000490508.1_Intron Q96FG2 ELMD3_HUMAN ELMO/CED-12 domain containing 3 NA NA phagocytosis (GO:0006909) cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856) endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1) 12 TGTAGCTGTAAGtgtctgatg 0.473 NA G||| 599 0.119609 0.118 0.0677 5008 , , NA 21486 0.1468 NA 0.0934 False NA ,,, NA NA NA 2504 0.1575 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF258573 CCDS1973.1, CCDS46352.1 2p11.2 2014-01-28 2008-08-14 2008-08-14 ENSG00000115459 ENSG00000115459 84173 RNA binding motif (RRM) containing 26158 protein-coding gene gene with protein product 615427 RNA binding motif protein 29, RNA binding motif and ELMO/CED-12 domain 1, deafness, autosomal recessive 88 RBM29, RBED1, DFNB88 NA 24039609 Standard NM_032213 NM_032213 NA Approved FLJ21977 uc010ysn.2 Q96FG2 OTTHUMG00000130170 ENST00000409890.2:c.269-123A>G chr2.hg19:g.85596739A>G NA B8ZZD6|D6W5K4|Q2M1K3|Q2XSU3|Q2XSU4|Q8NAC1|Q8TCK4|Q8WV70|Q8WY75|Q9H6Q8 hg19 CCDS46352.1 0.02 2.129721 GTAxGTG COVERED NOVEL ELMOD3-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000329124.1 0 5.416157 KEEP 0 0 0 18 565 AA 0.999859 0.998325 0 + 6 60 207 0 0 14.53014 69 60 2523 109 ENST00000409890.2 0.08 0.998465 SH2D6 284948 __UNKNOWN__ __UNKNOWN__ 2 85662017 85662017 __UNKNOWN__ 5'UTR SNP G G A rs2271628 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:85662017G>A ENST00000340326.2 + 0 100 SH2D6_ENST00000481426.2_Intron|SH2D6_ENST00000389938.2_Intron NM_198482.1 NP_940884.1 Q7Z4S9 SH2D6_HUMAN SH2 domain containing 6 NA NA central_nervous_system(1)|lung(2) 3 GGTGGGTCCTGCCAGGGCACT 0.642 NA A||| 2327 0.464657 0.6611 0.3386 5008 , , NA 10327 0.3512 NA 0.5298 False NA ,,, NA NA NA 2504 0.3384 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF450483 CCDS1976.1 2p11.2 2013-02-14 ENSG00000152292 ENSG00000152292 284948 SH2 domain containing 30439 protein-coding gene gene with protein product NA 12477932 Standard NM_198482 NM_198482 NA Approved FLJ35993 uc002spq.3 Q7Z4S9 OTTHUMG00000130176 ENST00000340326.2:c.-62G>A chr2.hg19:g.85662017G>A NA A6ND14|Q6R306 hg19 CCDS1976.1 0.02 1.852539 CCTxCCA COVERED NOVEL SH2D6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252493.2 0 21.048383 KEEP 0 0 0 70 2474 GG 1 0.999622 0 + 7 60 246 0 0 17.48554 77 60 2819 199 ENST00000340326.2 0.083333 0.999622 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 85664399 85664399 __UNKNOWN__ IGR SNP G G T rs12473017 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:85664399G>T NA NA SH2D6 (247 upstream) : RNU7-64P (4639 downstream) NA NA NA GGAGGGAGGCGCAGTGCTGTC 0.522 NA T||| 2992 0.597444 0.7201 0.4683 5008 , , NA 17672 0.5823 NA 0.6223 False NA ,,, NA NA NA 2504 0.5133 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.85664399G>T NA hg19 0.02 -0.070187 GGCxCAG UNCOVERED NOVEL 0 1 2.407819 KEEP 0 0 0 8 283 GG 0.99257 0.053735 0 2 60 76 0 0 6.600547 6 60 225 23 0.25 0.054137 GGCX 2677 __UNKNOWN__ __UNKNOWN__ 2 85780592 85780592 __UNKNOWN__ Missense_Mutation SNP G G T rs191552939 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:85780592G>T ENST00000233838.4 - 8 998 c.918C>A c.(916-918)agC>agA p.S306R GGCX_ENST00000473665.1_5'UTR|GGCX_ENST00000430215.3_Missense_Mutation_p.S249R NM_000821.5 NP_000812.2 P38435 VKGC_HUMAN gamma-glutamyl carboxylase 306 NA blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020) gamma-glutamyl carboxylase activity (GO:0008488) endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2) 15 Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Phylloquinone(DB01022) AGAGAGGGCTGCTGGCCAGCA 0.567 NA NA NA NA NA NA NA NA NA NA NA 0 67 76 73 NA NA 2 NA 85780592 2203 4300 6503 SO:0001583 missense CCDS1978.1, CCDS46353.1 2p12 2008-05-21 ENSG00000115486 ENSG00000115486 2677 4247 protein-coding gene gene with protein product vitamin K-dependent gamma-carboxylase 137167 NA 1749935 Standard NM_000821 NM_000821 NA Approved VKCFD1 uc002sps.3 P38435 OTTHUMG00000130173 ENST00000233838.4:c.918C>A chr2.hg19:g.85780592G>T ENSP00000233838:p.Ser306Arg NA B4DMC5|E9PEE1|Q14415|Q6GU45 hg19 CCDS1978.1 0.02 2.88557 GCTxCTG COVERED . . . . . . . . . . G 16.26 3.072405 0.55646 . . ENSG00000115486 ENST00000233838;ENST00000430215 D;D 0.92249 -3.0;-3.0 5.64 5.64 0.86602 HTTM (1); 0.186893 0.56097 D 0.000026 D 0.93086 0.7799 L 0.46157 1.445 0.46298 D 0.998975 P;D;P 0.59357 0.91;0.985;0.953 P;P;P 0.54590 0.499;0.756;0.752 D 0.93574 0.6906 10 0.72032 D 0.01 -14.9248 17.1941 0.86887 0.0:0.0:1.0:0.0 . 249;145;306 E9PEE1;B4DQW4;P38435 .;.;VKGC_HUMAN R 306;249 ENSP00000233838:S306R;ENSP00000408045:S249R ENSP00000233838:S306R S - 3 2 GGCX 85634103 1.000000 0.71417 1.000000 0.80357 0.958000 0.62258 4.727000 0.61993 2.657000 0.90304 0.655000 0.94253 AGC NOVEL GGCX-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252490.3 1 6.019411 KEEP 0 0 0 20 713 GG 0.999863 0.999844 0 - 13 60 196 0 0 9.574961 91 60 2899 137 ENST00000233838.4 0.125 0.999981 GGCX 2677 __UNKNOWN__ __UNKNOWN__ 2 85788140 85788140 __UNKNOWN__ Intron SNP C C T rs1254898 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:85788140C>T ENST00000233838.4 - 2 124 GGCX_ENST00000430215.3_Intron NM_000821.5 NP_000812.2 P38435 VKGC_HUMAN gamma-glutamyl carboxylase NA NA blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020) gamma-glutamyl carboxylase activity (GO:0008488) endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2) 15 Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Phylloquinone(DB01022) AATATGTGTGCGGGGGTGGGC 0.507 NA C||| 824 0.164537 0.0129 0.1787 5008 , , NA 14294 0.1121 NA 0.3121 False NA ,,, NA NA NA 2504 0.2618 NA NA NA NA 0 C , 271,4135 141.9+/-177.2 15,241,1947 63 72 69 , -6.7 0 2 dbSNP_87 69 2723,5877 423.5+/-354.4 444,1835,2021 no intron,intron GGCX NM_000821.5,NM_001142269.2 , 459,2076,3968 TT,TC,CC 31.6628,6.1507,23.0201 , , 85788140 2994,10012 2203 4300 6503 SO:0001627 intron_variant CCDS1978.1, CCDS46353.1 2p12 2008-05-21 ENSG00000115486 ENSG00000115486 2677 4247 protein-coding gene gene with protein product vitamin K-dependent gamma-carboxylase 137167 NA 1749935 Standard NM_000821 NM_000821 NA Approved VKCFD1 uc002sps.3 P38435 OTTHUMG00000130173 ENST00000233838.4:c.44-32G>A chr2.hg19:g.85788140C>T NA B4DMC5|E9PEE1|Q14415|Q6GU45 hg19 CCDS1978.1 0.02 6.209521 GTGxGGG COVERED NOVEL GGCX-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252490.3 0 19.262199 KEEP 0 0 0 64 2233 CC 1 1 0 - 9 60 332 0 0 22.309354 157 60 5273 284 ENST00000233838.4 0.054217 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 85913812 85913812 __UNKNOWN__ IGR SNP T T C rs182779597 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:85913812T>C NA NA SFTPB (17948 upstream) : GNLY (7601 downstream) NA NA NA GAAAGGACATTGATGAGAATA 0.373 NA T||| 2 0.000399361 0.0 0.0 5008 , , NA 19910 0.002 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.85913812T>C NA hg19 0.02 2.508264 CATxGAT COVERED NOVEL 0 0 2.707253 KEEP 0 0 0 9 275 TT 0.99254 0.987004 0 4 60 138 0 0 9.161679 62 60 2276 92 0.060606 0.994422 POLR1A 25885 __UNKNOWN__ __UNKNOWN__ 2 86315780 86315780 __UNKNOWN__ Silent SNP G G A rs117639882 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:86315780G>A ENST00000263857.6 - 6 1017 c.639C>T c.(637-639)tcC>tcT p.S213S POLR1A_ENST00000409681.1_Silent_p.S213S O95602 RPA1_HUMAN polymerase (RNA) I polypeptide A, 194kDa 213 NA gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361) cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270) NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 63 TTCGGACAACGGATCGCCCGG 0.512 NA G||| 11 0.00219649 0.0 0.0 5008 , , NA 19508 0.0109 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 121 110 114 NA NA 2 NA 86315780 1994 4157 6151 SO:0001819 synonymous_variant AK025568 CCDS42706.1 2p11.2 2013-01-21 ENSG00000068654 ENSG00000068654 25885 RNA polymerase subunits 17264 protein-coding gene gene with protein product NA 9236775 Standard NM_015425 NM_015425 NA Approved DKFZP586M0122, FLJ21915, RPO1-4, RPA1 uc002sqs.3 O95602 OTTHUMG00000153165 ENST00000263857.6:c.639C>T chr2.hg19:g.86315780G>A NA B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9 hg19 CCDS42706.1 0.02 9.406526 AACxGAT COVERED NOVEL POLR1A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000329830.2 1 16.85358 KEEP 0 0 0 56 1921 GG 1 1 0 - 11 60 419 0 0 27.907349 222 60 7839 382 ENST00000263857.6 0.04721 1 POLR1A 25885 __UNKNOWN__ __UNKNOWN__ 2 86333051 86333051 __UNKNOWN__ 5'UTR SNP G G T rs17026904 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:86333051G>T ENST00000263857.6 - 0 227 POLR1A_ENST00000409681.1_5'UTR O95602 RPA1_HUMAN polymerase (RNA) I polypeptide A, 194kDa NA NA gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361) cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270) NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 63 ACGTGGATGAGATCACTTCTA 0.453 NA G||| 140 0.0279553 0.0 0.0 5008 , , NA 18551 0.0962 NA 0.004 False NA ,,, NA NA NA 2504 0.0399 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AK025568 CCDS42706.1 2p11.2 2013-01-21 ENSG00000068654 ENSG00000068654 25885 RNA polymerase subunits 17264 protein-coding gene gene with protein product NA 9236775 Standard NM_015425 NM_015425 NA Approved DKFZP586M0122, FLJ21915, RPO1-4, RPA1 uc002sqs.3 O95602 OTTHUMG00000153165 ENST00000263857.6:c.-152C>A chr2.hg19:g.86333051G>T NA B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9 hg19 CCDS42706.1 0.02 18.513044 TGAxATC COVERED NOVEL POLR1A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000329830.2 3 63.801946 KEEP 0 0 0 212 7282 GG 1 1 0 - 17 60 603 0 0 36.411052 470 60 17516 799 ENST00000263857.6 0.034908 1 PTCD3 55037 __UNKNOWN__ __UNKNOWN__ 2 86364353 86364353 __UNKNOWN__ Intron SNP A A G rs2241434 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:86364353A>G ENST00000254630.7 + 23 2045 NM_017952.5 NP_060422.4 Q96EY7 PTCD3_HUMAN pentatricopeptide repeat domain 3 NA NA mitochondrial translation (GO:0032543)|regulation of translation (GO:0006417) mitochondrion (GO:0005739) poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|rRNA binding (GO:0019843) NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1) 22 TATCCCTTCTATTTCCTTTCA 0.343 NA A||| 489 0.0976438 0.1331 0.0187 5008 , , NA 20851 0.1865 NA 0.0298 False NA ,,, NA NA NA 2504 0.0838 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS33235.1 2p11.2 2014-02-12 2012-02-24 ENSG00000132300 ENSG00000132300 55037 24717 protein-coding gene gene with protein product 614918 NA 8889548 Standard NM_017952 NM_017952 NA Approved FLJ20758, DKFZp666K071 uc002sqw.2 Q96EY7 OTTHUMG00000153168 ENST00000254630.7:c.1979+90A>G chr2.hg19:g.86364353A>G NA A6NHD2|D6W5M1|Q597H0|Q658Y9|Q9BUZ8|Q9NWL0 hg19 CCDS33235.1 0.02 4.886987 TCTxTTT COVERED NOVEL PTCD3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000329854.1 0 3.901034 KEEP 0 0 0 13 368 AA 0.994391 0.99439 0 + 6 60 233 0 0 15.732249 118 60 4223 147 ENST00000254630.7 0.048387 0.999999 PTCD3 55037 __UNKNOWN__ __UNKNOWN__ 2 86364653 86364653 __UNKNOWN__ Missense_Mutation SNP A A G rs2241433 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:86364653A>G ENST00000254630.7 + 24 2107 c.2041A>G c.(2041-2043)Agc>Ggc p.S681G NM_017952.5 NP_060422.4 Q96EY7 PTCD3_HUMAN pentatricopeptide repeat domain 3 681 NA S -> G (in dbSNP:rs2241433). mitochondrial translation (GO:0032543)|regulation of translation (GO:0006417) mitochondrion (GO:0005739) poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|rRNA binding (GO:0019843) NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1) 22 CAGCAGTGACAGCGACAGTGA 0.453 NA A||| 232 0.0463259 0.0 0.0 5008 , , NA 20772 0.1865 NA 0.004 False NA ,,, NA NA NA 2504 0.0409 NA NA NA NA 0 A GLY/SER 5,4401 9.9+/-24.2 0,5,2198 98 85 89 2041 3.2 0.9 2 dbSNP_98 89 8,8592 6.4+/-24.3 0,8,4292 yes missense PTCD3 NM_017952.5 56 0,13,6490 GG,GA,AA 0.093,0.1135,0.1 possibly-damaging 681/690 86364653 13,12993 2203 4300 6503 SO:0001583 missense CCDS33235.1 2p11.2 2014-02-12 2012-02-24 ENSG00000132300 ENSG00000132300 55037 24717 protein-coding gene gene with protein product 614918 NA 8889548 Standard NM_017952 NM_017952 NA Approved FLJ20758, DKFZp666K071 uc002sqw.2 Q96EY7 OTTHUMG00000153168 ENST00000254630.7:c.2041A>G chr2.hg19:g.86364653A>G ENSP00000254630:p.Ser681Gly NA A6NHD2|D6W5M1|Q597H0|Q658Y9|Q9BUZ8|Q9NWL0 hg19 CCDS33235.1 0.02 7.958988 GACxGCG COVERED 98 0.04487179487179487 0 0.0 0 0.0 94 0.16433566433566432 4 0.005277044854881266 A 15.14 2.746310 0.49257 0.001135 9.3E-4 ENSG00000132300 ENST00000254630 T 0.35789 1.29 4.38 3.23 0.37069 . 1.925870 0.01927 N 0.040958 T 0.00210 0.0006 M 0.69823 2.125 0.09310 P 0.9999999999914118 P;P 0.44139 0.827;0.734 B;B 0.41202 0.35;0.257 T 0.04664 -1.0935 9 0.29301 T 0.29 -0.0244 8.8375 0.35121 0.9117:0.0:0.0883:0.0 rs2241433 272;681 Q96EY7-2;Q96EY7 .;PTCD3_HUMAN G 681 ENSP00000254630:S681G ENSP00000254630:S681G S + 1 0 PTCD3 86218164 0.998000 0.40836 0.859000 0.33776 0.965000 0.64279 3.160000 0.50739 0.811000 0.34303 0.533000 0.62120 AGC NOVEL PTCD3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000329854.1 0 7.220774 KEEP 0 0 0 24 730 AA 0.999909 0.999909 0 + 14 70 492 0 0 33.373104 202 70 7413 251 ENST00000254630.7 0.064815 1 PTCD3 55037 __UNKNOWN__ __UNKNOWN__ 2 86368370 86368370 __UNKNOWN__ 3'UTR SNP C C T rs76096409 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:86368370C>T ENST00000254630.7 + 0 5824 NM_017952.5 NP_060422.4 Q96EY7 PTCD3_HUMAN pentatricopeptide repeat domain 3 NA NA mitochondrial translation (GO:0032543)|regulation of translation (GO:0006417) mitochondrion (GO:0005739) poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|rRNA binding (GO:0019843) NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1) 22 TCCCTGCCCCCATCCTTTGCT 0.502 NA C||| 140 0.0279553 0.0 0.0 5008 , , NA 19203 0.0962 NA 0.004 False NA ,,, NA NA NA 2504 0.0399 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS33235.1 2p11.2 2014-02-12 2012-02-24 ENSG00000132300 ENSG00000132300 55037 24717 protein-coding gene gene with protein product 614918 NA 8889548 Standard NM_017952 NM_017952 NA Approved FLJ20758, DKFZp666K071 uc002sqw.2 Q96EY7 OTTHUMG00000153168 ENST00000254630.7:c.*3688C>T chr2.hg19:g.86368370C>T NA A6NHD2|D6W5M1|Q597H0|Q658Y9|Q9BUZ8|Q9NWL0 hg19 CCDS33235.1 0.02 10.812639 CCCxATC COVERED NOVEL PTCD3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000329854.1 2 7.825669 KEEP 0 0 0 26 933 CC 0.999957 0.999957 0 + 9 60 335 0 0 20.908679 245 60 9088 335 ENST00000254630.7 0.035433 1 IMMT 10989 __UNKNOWN__ __UNKNOWN__ 2 86400791 86400791 __UNKNOWN__ Missense_Mutation SNP T T C rs59649940 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:86400791T>C ENST00000410111.3 - 4 790 c.403A>G c.(403-405)Act>Gct p.T135A IMMT_ENST00000409051.2_Missense_Mutation_p.T135A|IMMT_ENST00000254636.5_Missense_Mutation_p.T48A|IMMT_ENST00000449247.2_Missense_Mutation_p.T135A|IMMT_ENST00000442664.2_Missense_Mutation_p.T135A NM_001100169.1|NM_001100170.1|NM_006839.2 NP_001093639.1|NP_001093640.1|NP_006830.2 Q16891 MIC60_HUMAN inner membrane protein, mitochondrial 135 NA mitochondrial calcium ion homeostasis (GO:0051560)|response to cold (GO:0009409) integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739) poly(A) RNA binding (GO:0044822) breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 GAAGCTGGAGTATCTCCCTTT 0.343 NA T||| 144 0.028754 0.0 0.0 5008 , , NA 16279 0.0992 NA 0.005 False NA ,,, NA NA NA 2504 0.0399 NA NA NA NA 0 T ALA/THR,ALA/THR,ALA/THR 2,3652 0,2,1825 147 120 128 403,403,403 -0.4 0.2 2 dbSNP_129 128 8,8144 0,8,4068 yes missense,missense,missense IMMT NM_001100169.1,NM_001100170.1,NM_006839.2 58,58,58 0,10,5893 CC,CT,TT 0.0981,0.0547,0.0847 benign,benign,benign 135/758,135/748,135/759 86400791 10,11796 1827 4076 5903 SO:0001583 missense D21094 CCDS46355.1, CCDS46356.1, CCDS46357.1 2p11.2 2011-10-04 2010-04-29 ENSG00000132305 ENSG00000132305 10989 6047 protein-coding gene gene with protein product mitofilin, mitochondrial inner membrane organizing system 2 600378 inner membrane protein, mitochondrial (mitofilin) NA 9168817, 8039717 Standard NM_006839 NM_001100169 NA Approved P87, P89, HMP, MINOS2 uc002sqz.4 Q16891 OTTHUMG00000153170 ENST00000410111.3:c.403A>G chr2.hg19:g.86400791T>C ENSP00000387262:p.Thr135Ala NA B1H0U5|B2R5N6|Q14539|Q15092|Q68D41|Q69HW5|Q6IBL0|Q7Z3X1|Q8TAJ5|Q9P0V2 hg19 CCDS46355.1 0.02 2.050803 GAGxATC COVERED 68|68 0.031135531135531136|0.031135531135531136 0|0 0.0|0.0 0|0 0.0|0.0 63|63 0.11013986013986014|0.11013986013986014 5|5 0.006596306068601583|0.006596306068601583 T|T 1.510|1.510 -0.549764|-0.549764 0.03996|0.03996 5.47E-4|5.47E-4 9.81E-4|9.81E-4 ENSG00000132305|ENSG00000132305 ENST00000254636;ENST00000449247;ENST00000410111;ENST00000442664;ENST00000409051;ENST00000545283;ENST00000377310;ENST00000398211;ENST00000409715|ENST00000419070 T;T;T;T;T|. 0.34072|. 1.38;1.48;1.54;1.55;1.65|. 4.86|4.86 -0.414|-0.414 0.12359|0.12359 .|. 0.593745|. 0.17841|. N|. 0.160214|. T|T 0.00580|0.00580 0.0019|0.0019 L|L 0.28274|0.28274 0.84|0.84 0.19775|0.19775 N|N 0.999958|0.999958 B;B;B;B;B;B;B;B;B|. 0.12013|. 0.0;0.001;0.0;0.005;0.001;0.0;0.0;0.0;0.001|. B;B;B;B;B;B;B;B;B|. 0.21708|. 0.002;0.004;0.003;0.036;0.009;0.001;0.002;0.001;0.006|. T|T 0.09596|0.09596 -1.0667|-1.0667 10|5 0.07813|. T|. 0.8|. -2.7708|-2.7708 9.6254|9.6254 0.39748|0.39748 0.0:0.3828:0.0:0.6171|0.0:0.3828:0.0:0.6171 rs59649940|rs59649940 135;135;135;135;135;135;135;135;135|. F5GZ32;B9A067;B4DKR1;Q05DN3;B4E2B5;F8W9I1;Q16891-2;Q16891-3;Q16891|. .;.;.;.;.;.;.;.;IMMT_HUMAN|. A|C 48;135;135;135;135;135;135;135;135|32 ENSP00000254636:T48A;ENSP00000396899:T135A;ENSP00000387262:T135A;ENSP00000407788:T135A;ENSP00000387227:T135A|. ENSP00000254636:T48A|. T|Y -|- 1|2 0|0 IMMT|IMMT 86254302|86254302 0.066000|0.066000 0.20996|0.20996 0.181000|0.181000 0.23098|0.23098 0.555000|0.555000 0.35460|0.35460 0.048000|0.048000 0.14078|0.14078 -0.326000|-0.326000 0.08564|0.08564 -0.411000|-0.411000 0.06167|0.06167 ACT|TAC NOVEL IMMT-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000329909.2 0 4.208875 KEEP 0 0 0 14 408 TT 0.995343 0.994904 0 - 4 60 151 0 0 10.026749 80 60 2683 116 ENST00000410111.3 0.047619 0.999559 MRPL35 51318 __UNKNOWN__ __UNKNOWN__ 2 86438600 86438600 __UNKNOWN__ 3'UTR SNP T T C rs17438451 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:86438600T>C ENST00000337109.4 + 0 1410 MRPL35_ENST00000409180.1_Intron|MRPL35_ENST00000254644.8_Intron NM_016622.3 NP_057706.2 Q9NZE8 RM35_HUMAN mitochondrial ribosomal protein L35 NA NA translation (GO:0006412) mitochondrial ribosome (GO:0005761) structural constituent of ribosome (GO:0003735) cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(2) 14 CAGTTTCACTTGGAGGTTCAC 0.418 NA T||| 1981 0.395567 0.0204 0.5346 5008 , , NA 20386 0.6637 NA 0.3956 False NA ,,, NA NA NA 2504 0.5276 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF208849 CCDS1987.1, CCDS1988.1 2p11.2 2012-09-13 ENSG00000132313 ENSG00000132313 51318 Mitochondrial ribosomal proteins / large subunits 14489 protein-coding gene gene with protein product 611841 NA 11042152, 11551941 Standard NM_016622 NM_016622 NA Approved uc002srg.4 Q9NZE8 OTTHUMG00000037385 ENST00000337109.4:c.*809T>C chr2.hg19:g.86438600T>C NA A6NKV6|B2RB93|Q658U7|Q8WWA2 hg19 CCDS1988.1 0.02 4.645264 ACTxGGA COVERED NOVEL MRPL35-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000091002.2 1 7.822794 KEEP 0 0 0 26 803 TT 0.999957 0.999944 0 + 5 60 185 0 0 12.137729 101 60 3658 152 ENST00000337109.4 0.04717 0.999987 MRPL35 51318 __UNKNOWN__ __UNKNOWN__ 2 86439282 86439282 __UNKNOWN__ 3'UTR SNP A A G rs75197218 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:86439282A>G ENST00000337109.4 + 0 2092 MRPL35_ENST00000409180.1_Intron|MRPL35_ENST00000254644.8_Intron NM_016622.3 NP_057706.2 Q9NZE8 RM35_HUMAN mitochondrial ribosomal protein L35 NA NA translation (GO:0006412) mitochondrial ribosome (GO:0005761) structural constituent of ribosome (GO:0003735) cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(2) 14 TAATAAGATGAAATTCCTCTG 0.308 NA A||| 114 0.0227636 0.0 0.0 5008 , , NA 20112 0.0714 NA 0.005 False NA ,,, NA NA NA 2504 0.0378 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF208849 CCDS1987.1, CCDS1988.1 2p11.2 2012-09-13 ENSG00000132313 ENSG00000132313 51318 Mitochondrial ribosomal proteins / large subunits 14489 protein-coding gene gene with protein product 611841 NA 11042152, 11551941 Standard NM_016622 NM_016622 NA Approved uc002srg.4 Q9NZE8 OTTHUMG00000037385 ENST00000337109.4:c.*1491A>G chr2.hg19:g.86439282A>G NA A6NKV6|B2RB93|Q658U7|Q8WWA2 hg19 CCDS1988.1 0.02 11.834679 ATGxAAT COVERED NOVEL MRPL35-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000091002.2 2 11.432489 KEEP 0 0 0 38 1187 AA 1 1 0 + 19 60 699 0 0 48.997662 255 60 9187 363 ENST00000337109.4 0.069343 1 MRPL35 51318 __UNKNOWN__ __UNKNOWN__ 2 86440718 86440718 __UNKNOWN__ 3'UTR SNP T T C rs11944 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:86440718T>C ENST00000337109.4 + 0 3528 MRPL35_ENST00000409180.1_Intron NM_016622.3 NP_057706.2 Q9NZE8 RM35_HUMAN mitochondrial ribosomal protein L35 NA NA translation (GO:0006412) mitochondrial ribosome (GO:0005761) structural constituent of ribosome (GO:0003735) cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(2) 14 GGTTTAAGGGTGGCCCTTCAC 0.468 NA T||| 1859 0.371206 0.0295 0.5389 5008 , , NA 17914 0.5923 NA 0.3917 False NA ,,, NA NA NA 2504 0.4652 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF208849 CCDS1987.1, CCDS1988.1 2p11.2 2012-09-13 ENSG00000132313 ENSG00000132313 51318 Mitochondrial ribosomal proteins / large subunits 14489 protein-coding gene gene with protein product 611841 NA 11042152, 11551941 Standard NM_016622 NM_016622 NA Approved uc002srg.4 Q9NZE8 OTTHUMG00000037385 ENST00000337109.4:c.*2927T>C chr2.hg19:g.86440718T>C NA A6NKV6|B2RB93|Q658U7|Q8WWA2 hg19 CCDS1988.1 0.02 28.956321 GGGxGGC COVERED NOVEL MRPL35-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000091002.2 1 31.596598 KEEP 0 2 45 121 3650 TT 1 1 0 + 23 60 781 0 0 45.149095 716 60 25056 1042 ENST00000337109.4 0.031123 1 REEP1 65055 __UNKNOWN__ __UNKNOWN__ 2 86441303 86441303 __UNKNOWN__ 3'UTR SNP A A C rs708600 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:86441303A>C ENST00000165698.5 - 0 3669 REEP1_ENST00000541910.1_3'UTR|REEP1_ENST00000538924.1_3'UTR|REEP1_ENST00000535845.1_3'UTR NM_022912.2 NP_075063.1 Q9H902 REEP1_HUMAN receptor accessory protein 1 NA NA cell death (GO:0008219)|endoplasmic reticulum tubular network organization (GO:0071786)|protein insertion into membrane (GO:0051205)|regulation of intracellular transport (GO:0032386) cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739) microtubule binding (GO:0008017)|olfactory receptor binding (GO:0031849) breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 13 TGCACAGTCAAAATCCAGAAT 0.408 NA C||| 1871 0.373602 0.0295 0.5389 5008 , , NA 21012 0.5923 NA 0.4016 False NA ,,, NA NA NA 2504 0.4673 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK023172 CCDS1989.1, CCDS54372.1, CCDS54373.1, CCDS54374.1 2p11.2 2014-09-17 2006-02-07 2006-02-07 ENSG00000068615 ENSG00000068615 65055 Receptor accessory proteins 25786 protein-coding gene gene with protein product receptor expression enhancing protein 1 609139 chromosome 2 open reading frame 23 C2orf23 NA 16271481, 15550249 Standard NM_022912 NM_022912 NA Approved FLJ13110, SPG31 uc002srh.4 Q9H902 OTTHUMG00000130205 ENST00000165698.5:c.*2920T>G chr2.hg19:g.86441303A>C NA B7Z4D7|B7Z4F2|B7Z5R9|D6W5M2|Q53TI0 hg19 CCDS1989.1 0.02 9.03821 TCAxAAT COVERED NOVEL REEP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252523.2 0 12.638661 KEEP 0 0 0 42 1345 AA 1 1 0 - 9 60 343 0 0 22.314115 209 60 7572 325 ENST00000165698.5 0.041284 1 REEP1 65055 __UNKNOWN__ __UNKNOWN__ 2 86442548 86442548 __UNKNOWN__ 3'UTR SNP C C T rs3731817 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:86442548C>T ENST00000165698.5 - 0 2424 REEP1_ENST00000541910.1_3'UTR|REEP1_ENST00000538924.1_3'UTR|REEP1_ENST00000535845.1_3'UTR NM_022912.2 NP_075063.1 Q9H902 REEP1_HUMAN receptor accessory protein 1 NA NA cell death (GO:0008219)|endoplasmic reticulum tubular network organization (GO:0071786)|protein insertion into membrane (GO:0051205)|regulation of intracellular transport (GO:0032386) cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739) microtubule binding (GO:0008017)|olfactory receptor binding (GO:0031849) breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 13 TATGTGTTTGCGTAGTAATGG 0.383 NA C||| 71 0.0141773 0.0 0.0 5008 , , NA 18693 0.0625 NA 0.002 False NA ,,, NA NA NA 2504 0.0061 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK023172 CCDS1989.1, CCDS54372.1, CCDS54373.1, CCDS54374.1 2p11.2 2014-09-17 2006-02-07 2006-02-07 ENSG00000068615 ENSG00000068615 65055 Receptor accessory proteins 25786 protein-coding gene gene with protein product receptor expression enhancing protein 1 609139 chromosome 2 open reading frame 23 C2orf23 NA 16271481, 15550249 Standard NM_022912 NM_022912 NA Approved FLJ13110, SPG31 uc002srh.4 Q9H902 OTTHUMG00000130205 ENST00000165698.5:c.*1675G>A chr2.hg19:g.86442548C>T NA B7Z4D7|B7Z4F2|B7Z5R9|D6W5M2|Q53TI0 hg19 CCDS1989.1 0.02 5.742908 TTGxGTA COVERED NOVEL REEP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252523.2 3 9.621347 KEEP 0 0 0 32 1083 CC 0.999997 0.999997 0 - 7 60 226 0 0 13.648819 144 60 5137 219 ENST00000165698.5 0.046358 1 REEP1 65055 __UNKNOWN__ __UNKNOWN__ 2 86479287 86479287 __UNKNOWN__ Intron SNP G G T rs17438687 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:86479287G>T ENST00000165698.5 - 5 447 REEP1_ENST00000541910.1_Intron|REEP1_ENST00000538924.1_Intron|REEP1_ENST00000473407.1_Intron|REEP1_ENST00000540790.1_Intron|REEP1_ENST00000535845.1_Intron NM_022912.2 NP_075063.1 Q9H902 REEP1_HUMAN receptor accessory protein 1 NA NA cell death (GO:0008219)|endoplasmic reticulum tubular network organization (GO:0071786)|protein insertion into membrane (GO:0051205)|regulation of intracellular transport (GO:0032386) cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739) microtubule binding (GO:0008017)|olfactory receptor binding (GO:0031849) breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 13 TTGGCAGCTTGCCCAATCCTT 0.493 NA G||| 2173 0.433906 0.0825 0.611 5008 , , NA 21362 0.6577 NA 0.495 False NA ,,, NA NA NA 2504 0.4898 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK023172 CCDS1989.1, CCDS54372.1, CCDS54373.1, CCDS54374.1 2p11.2 2014-09-17 2006-02-07 2006-02-07 ENSG00000068615 ENSG00000068615 65055 Receptor accessory proteins 25786 protein-coding gene gene with protein product receptor expression enhancing protein 1 609139 chromosome 2 open reading frame 23 C2orf23 NA 16271481, 15550249 Standard NM_022912 NM_022912 NA Approved FLJ13110, SPG31 uc002srh.4 Q9H902 OTTHUMG00000130205 ENST00000165698.5:c.304-94C>A chr2.hg19:g.86479287G>T NA B7Z4D7|B7Z4F2|B7Z5R9|D6W5M2|Q53TI0 hg19 CCDS1989.1 0.02 4.32998 CTTxCCC COVERED NOVEL REEP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252523.2 0 4.572723 KEEP 0 1 10 19 688 GG 0.999863 0.999854 0 - 5 60 186 0 0 12.199758 103 60 3816 141 ENST00000165698.5 0.046296 0.999991 REEP1 65055 __UNKNOWN__ __UNKNOWN__ 2 86491245 86491245 __UNKNOWN__ Intron SNP C C T rs1863056 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:86491245C>T ENST00000165698.5 - 3 249 REEP1_ENST00000541910.1_Intron|REEP1_ENST00000538924.1_Intron|REEP1_ENST00000473407.1_Intron|REEP1_ENST00000540790.1_Intron|REEP1_ENST00000535845.1_Intron NM_022912.2 NP_075063.1 Q9H902 REEP1_HUMAN receptor accessory protein 1 NA NA cell death (GO:0008219)|endoplasmic reticulum tubular network organization (GO:0071786)|protein insertion into membrane (GO:0051205)|regulation of intracellular transport (GO:0032386) cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739) microtubule binding (GO:0008017)|olfactory receptor binding (GO:0031849) breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 13 CAGGCCCCGGCGGCAGATACG 0.522 NA C||| 1914 0.382188 0.025 0.5908 5008 , , NA 20516 0.5833 NA 0.4583 False NA ,,, NA NA NA 2504 0.4315 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK023172 CCDS1989.1, CCDS54372.1, CCDS54373.1, CCDS54374.1 2p11.2 2014-09-17 2006-02-07 2006-02-07 ENSG00000068615 ENSG00000068615 65055 Receptor accessory proteins 25786 protein-coding gene gene with protein product receptor expression enhancing protein 1 609139 chromosome 2 open reading frame 23 C2orf23 NA 16271481, 15550249 Standard NM_022912 NM_022912 NA Approved FLJ13110, SPG31 uc002srh.4 Q9H902 OTTHUMG00000130205 ENST00000165698.5:c.106-81G>A chr2.hg19:g.86491245C>T NA B7Z4D7|B7Z4F2|B7Z5R9|D6W5M2|Q53TI0 hg19 CCDS1989.1 0.02 8.464321 CGGxGGC COVERED NOVEL REEP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252523.2 0 7.824936 KEEP 0 0 0 26 897 CC 0.999957 0.999957 0 - 7 60 254 0 0 15.511172 197 60 6754 287 ENST00000165698.5 0.034314 1 REEP1 65055 __UNKNOWN__ __UNKNOWN__ 2 86507135 86507135 __UNKNOWN__ Intron SNP A A G rs58029983 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:86507135A>G ENST00000165698.5 - 2 249 REEP1_ENST00000541910.1_Intron|REEP1_ENST00000538924.1_Intron|REEP1_ENST00000473407.1_Intron|REEP1_ENST00000540790.1_Intron|REEP1_ENST00000535845.1_Intron NM_022912.2 NP_075063.1 Q9H902 REEP1_HUMAN receptor accessory protein 1 NA NA cell death (GO:0008219)|endoplasmic reticulum tubular network organization (GO:0071786)|protein insertion into membrane (GO:0051205)|regulation of intracellular transport (GO:0032386) cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739) microtubule binding (GO:0008017)|olfactory receptor binding (GO:0031849) breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 13 gcagagaaggacgacagacct 0.458 NA A||| 398 0.0794728 0.1634 0.0331 5008 , , NA 19533 0.0635 NA 0.0368 False NA ,,, NA NA NA 2504 0.0593 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK023172 CCDS1989.1, CCDS54372.1, CCDS54373.1, CCDS54374.1 2p11.2 2014-09-17 2006-02-07 2006-02-07 ENSG00000068615 ENSG00000068615 65055 Receptor accessory proteins 25786 protein-coding gene gene with protein product receptor expression enhancing protein 1 609139 chromosome 2 open reading frame 23 C2orf23 NA 16271481, 15550249 Standard NM_022912 NM_022912 NA Approved FLJ13110, SPG31 uc002srh.4 Q9H902 OTTHUMG00000130205 ENST00000165698.5:c.105+2157T>C chr2.hg19:g.86507135A>G NA B7Z4D7|B7Z4F2|B7Z5R9|D6W5M2|Q53TI0 hg19 CCDS1989.1 0.02 9.422372 AGGxCGA COVERED NOVEL REEP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252523.2 2 15.645568 KEEP 0 0 0 52 1630 AA 1 1 0 - 10 60 343 0 0 21.493525 210 60 7372 359 ENST00000165698.5 0.045455 1 REEP1 65055 __UNKNOWN__ __UNKNOWN__ 2 86507205 86507205 __UNKNOWN__ Intron SNP C C T rs57412282 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:86507205C>T ENST00000165698.5 - 2 249 REEP1_ENST00000541910.1_Intron|REEP1_ENST00000538924.1_Intron|REEP1_ENST00000473407.1_Intron|REEP1_ENST00000540790.1_5'UTR|REEP1_ENST00000535845.1_Intron NM_022912.2 NP_075063.1 Q9H902 REEP1_HUMAN receptor accessory protein 1 NA NA cell death (GO:0008219)|endoplasmic reticulum tubular network organization (GO:0071786)|protein insertion into membrane (GO:0051205)|regulation of intracellular transport (GO:0032386) cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739) microtubule binding (GO:0008017)|olfactory receptor binding (GO:0031849) breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 13 ctgggtggggcgtgggtgtgg 0.512 NA t||| 341 0.0680911 0.1256 0.0245 5008 , , NA 18685 0.0635 NA 0.0358 False NA ,,, NA NA NA 2504 0.0593 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK023172 CCDS1989.1, CCDS54372.1, CCDS54373.1, CCDS54374.1 2p11.2 2014-09-17 2006-02-07 2006-02-07 ENSG00000068615 ENSG00000068615 65055 Receptor accessory proteins 25786 protein-coding gene gene with protein product receptor expression enhancing protein 1 609139 chromosome 2 open reading frame 23 C2orf23 NA 16271481, 15550249 Standard NM_022912 NM_022912 NA Approved FLJ13110, SPG31 uc002srh.4 Q9H902 OTTHUMG00000130205 ENST00000165698.5:c.105+2087G>A chr2.hg19:g.86507205C>T NA B7Z4D7|B7Z4F2|B7Z5R9|D6W5M2|Q53TI0 hg19 CCDS1989.1 0.02 5.946868 GGGxGTG COVERED NOVEL REEP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252523.2 1 14.746888 KEEP 0 0 0 49 1695 CC 1 1 0 - 9 60 269 0 0 15.615101 187 60 6194 297 ENST00000165698.5 0.045918 1 REEP1 65055 __UNKNOWN__ __UNKNOWN__ 2 86509388 86509388 __UNKNOWN__ Intron SNP T T G rs1863059 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:86509388T>G ENST00000165698.5 - 2 176 REEP1_ENST00000473407.1_Intron|REEP1_ENST00000540790.1_Intron|REEP1_ENST00000535845.1_Intron|REEP1_ENST00000541910.1_Intron|REEP1_ENST00000538924.1_Intron NM_022912.2 NP_075063.1 Q9H902 REEP1_HUMAN receptor accessory protein 1 NA NA cell death (GO:0008219)|endoplasmic reticulum tubular network organization (GO:0071786)|protein insertion into membrane (GO:0051205)|regulation of intracellular transport (GO:0032386) cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739) microtubule binding (GO:0008017)|olfactory receptor binding (GO:0031849) breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 13 GAGACAAAAATAAATACGATT 0.378 NA t||| 2924 0.583866 0.6082 0.6556 5008 , , NA 21009 0.6488 NA 0.496 False NA ,,, NA NA NA 2504 0.5235 NA NA NA NA 0 G ,,, 2626,1780 641.7+/-397.5 782,1062,359 91 91 91 ,,, -0.9 0 2 dbSNP_92 91 4114,4486 563.2+/-388.1 989,2136,1175 no intron,intron,intron,intron REEP1 NM_001164730.1,NM_001164731.1,NM_001164732.1,NM_022912.2 ,,, 1771,3198,1534 GG,GT,TT 47.8372,40.3995,48.1778 ,,, ,,, 86509388 6740,6266 2203 4300 6503 SO:0001627 intron_variant AK023172 CCDS1989.1, CCDS54372.1, CCDS54373.1, CCDS54374.1 2p11.2 2014-09-17 2006-02-07 2006-02-07 ENSG00000068615 ENSG00000068615 65055 Receptor accessory proteins 25786 protein-coding gene gene with protein product receptor expression enhancing protein 1 609139 chromosome 2 open reading frame 23 C2orf23 NA 16271481, 15550249 Standard NM_022912 NM_022912 NA Approved FLJ13110, SPG31 uc002srh.4 Q9H902 OTTHUMG00000130205 ENST00000165698.5:c.33-23A>C chr2.hg19:g.86509388T>G NA B7Z4D7|B7Z4F2|B7Z5R9|D6W5M2|Q53TI0 hg19 CCDS1989.1 0.02 5.072461 AAAxAAA COVERED NOVEL REEP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252523.2 0 3.008446 KEEP 0 0 0 10 303 TT 0.992708 0.992685 0 - 5 60 198 0 0 13.503654 98 60 3491 134 ENST00000165698.5 0.048544 0.999978 KDM3A 55818 __UNKNOWN__ __UNKNOWN__ 2 86691250 86691250 __UNKNOWN__ Silent SNP G G A rs12714187 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:86691250G>A ENST00000409556.1 + 10 1283 c.918G>A c.(916-918)gcG>gcA p.A306A KDM3A_ENST00000542128.1_Silent_p.A254A|KDM3A_ENST00000312912.5_Silent_p.A306A|KDM3A_ENST00000409064.1_Silent_p.A306A Q9Y4C1 KDM3A_HUMAN lysine (K)-specific demethylase 3A 306 NA androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634) androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976) NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2) 47 GCTGTACTGCGGCAACTCCAC 0.483 NA A||| 4031 0.804912 0.9297 0.7608 5008 , , NA 14728 0.9425 NA 0.7594 False NA ,,, NA NA NA 2504 0.5726 NA NA NA NSCLC(96;1150 1523 6936 46253 49736) NA 0 A , 3954,452 216.8+/-235.3 1773,408,22 113 103 106 918,918 1.4 1 2 dbSNP_121 106 6472,2128 366.6+/-334.4 2448,1576,276 no coding-synonymous,coding-synonymous KDM3A NM_001146688.1,NM_018433.5 , 4221,1984,298 AA,AG,GG 24.7442,10.2587,19.837 , 306/1322,306/1322 86691250 10426,2580 2203 4300 6503 SO:0001819 synonymous_variant AB018285 CCDS1990.1 2p11.2 2011-07-01 2009-04-06 2009-04-06 ENSG00000115548 ENSG00000115548 55818 Chromatin-modifying enzymes / K-demethylases 20815 protein-coding gene gene with protein product jumonji C domain-containing histone demethylase 2A 611512 jumonji domain containing 1, jumonji domain containing 1A JMJD1, JMJD1A NA 9872452 Standard NM_018433 NM_018433 NA Approved TSGA, KIAA0742, JHMD2A uc010ytj.2 Q9Y4C1 OTTHUMG00000130204 ENST00000409556.1:c.918G>A chr2.hg19:g.86691250G>A NA D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08 hg19 CCDS1990.1 0.02 7.011713 TGCxGCA COVERED NOVEL KDM3A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252522.2 0 13.377409 KEEP 0 1 33 56 1881 GG 1 1 0 + 12 60 447 0 0 31.381247 165 60 5647 290 ENST00000409556.1 0.067797 1 CHMP3 51652 __UNKNOWN__ __UNKNOWN__ 2 86732524 86732524 __UNKNOWN__ 3'UTR SNP C C T rs3201448 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:86732524C>T ENST00000263856.4 - 0 1200 CHMP3_ENST00000409727.1_3'UTR NM_001193517.1|NM_016079.3 NP_001180446.1|NP_057163.1 Q9Y3E7 CHMP3_HUMAN charged multivesicular body protein 3 NA NA apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|endosomal transport (GO:0016197)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032) cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) NA CTGGGGCAGCCGACACCTTGA 0.418 NA C||| 2097 0.41873 0.0885 0.4597 5008 , , NA 17927 0.7262 NA 0.4592 False NA ,,, NA NA NA 2504 0.4775 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF219226 CCDS33236.1, CCDS42707.1, CCDS54375.1 2p11.2 2011-09-21 2011-09-21 2011-09-21 ENSG00000115561 ENSG00000115561 51652 Charged multivesicular body proteins 29865 protein-coding gene gene with protein product 610052 vacuolar protein sorting 24 (yeast), vacuolar protein sorting 24 homolog (S. cerevisiae) VPS24 NA 11549700, 12878588 Standard NM_016079 NM_016079 NA Approved NEDF, CGI-149 Q9Y3E7 OTTHUMG00000153189 ENST00000263856.4:c.*403G>A chr2.hg19:g.86732524C>T NA A8K3W0|B4DG34|B8ZZM0|B8ZZX5|Q3ZTS9|Q53S71|Q53SU5|Q9NZ51 hg19 CCDS33236.1 0.02 11.219716 AGCxGAC COVERED NOVEL CHMP3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000330015.2 0 15.08398 KEEP 0 1 34 62 2129 CC 1 1 0 - 10 60 369 0 0 23.394044 243 60 8334 407 ENST00000263856.4 0.039526 1 CHMP3 51652 __UNKNOWN__ __UNKNOWN__ 2 86732576 86732576 __UNKNOWN__ 3'UTR SNP A A G rs3731812 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:86732576A>G ENST00000263856.4 - 0 1148 CHMP3_ENST00000409225.2_3'UTR|CHMP3_ENST00000409727.1_3'UTR NM_001193517.1|NM_016079.3 NP_001180446.1|NP_057163.1 Q9Y3E7 CHMP3_HUMAN charged multivesicular body protein 3 NA NA apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|endosomal transport (GO:0016197)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032) cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) NA GCCAAGTGCTAAAGCAAAAAT 0.393 NA A||| 2097 0.41873 0.0885 0.4597 5008 , , NA 17202 0.7262 NA 0.4592 False NA ,,, NA NA NA 2504 0.4775 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF219226 CCDS33236.1, CCDS42707.1, CCDS54375.1 2p11.2 2011-09-21 2011-09-21 2011-09-21 ENSG00000115561 ENSG00000115561 51652 Charged multivesicular body proteins 29865 protein-coding gene gene with protein product 610052 vacuolar protein sorting 24 (yeast), vacuolar protein sorting 24 homolog (S. cerevisiae) VPS24 NA 11549700, 12878588 Standard NM_016079 NM_016079 NA Approved NEDF, CGI-149 Q9Y3E7 OTTHUMG00000153189 ENST00000263856.4:c.*351T>C chr2.hg19:g.86732576A>G NA A8K3W0|B4DG34|B8ZZM0|B8ZZX5|Q3ZTS9|Q53S71|Q53SU5|Q9NZ51 hg19 CCDS33236.1 0.02 6.814168 GCTxAAG COVERED NOVEL CHMP3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000330015.2 1 13.234809 KEEP 0 0 0 44 1283 AA 1 1 0 - 8 60 306 0 0 20.05489 180 60 6344 257 ENST00000263856.4 0.042553 1 CHMP3 51652 __UNKNOWN__ __UNKNOWN__ 2 86737649 86737649 __UNKNOWN__ Intron SNP G G A rs966477 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:86737649G>A ENST00000263856.4 - 4 415 CHMP3_ENST00000439940.2_Intron|CHMP3_ENST00000409225.2_Intron|RNF103-CHMP3_ENST00000604011.1_Intron|CHMP3_ENST00000494623.1_5'UTR|CHMP3_ENST00000409727.1_Intron NM_001193517.1|NM_016079.3 NP_001180446.1|NP_057163.1 Q9Y3E7 CHMP3_HUMAN charged multivesicular body protein 3 NA NA apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|endosomal transport (GO:0016197)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032) cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) NA GGATGGAATAGAGAGAGACAG 0.443 NA A||| 3362 0.671326 0.5711 0.6787 5008 , , NA 19255 0.9375 NA 0.6282 False NA ,,, NA NA NA 2504 0.5716 NA NA NA NA 0 A ,,, 2513,1893 543.7+/-376.3 723,1067,413 47 45 46 ,,, -5.1 0 2 dbSNP_86 46 5210,3390 501.1+/-375.4 1579,2052,669 no intron,intron,intron,intron CHMP3,RNF103-VPS24 NM_001005753.2,NM_001193517.1,NM_001198954.1,NM_016079.3 ,,, 2302,3119,1082 AA,AG,GG 39.4186,42.9641,40.6197 ,,, ,,, 86737649 7723,5283 2203 4300 6503 SO:0001627 intron_variant AF219226 CCDS33236.1, CCDS42707.1, CCDS54375.1 2p11.2 2011-09-21 2011-09-21 2011-09-21 ENSG00000115561 ENSG00000115561 51652 Charged multivesicular body proteins 29865 protein-coding gene gene with protein product 610052 vacuolar protein sorting 24 (yeast), vacuolar protein sorting 24 homolog (S. cerevisiae) VPS24 NA 11549700, 12878588 Standard NM_016079 NM_016079 NA Approved NEDF, CGI-149 Q9Y3E7 OTTHUMG00000153189 ENST00000263856.4:c.287-47C>T chr2.hg19:g.86737649G>A NA A8K3W0|B4DG34|B8ZZM0|B8ZZX5|Q3ZTS9|Q53S71|Q53SU5|Q9NZ51 hg19 CCDS33236.1 0.02 11.701255 ATAxAGA COVERED NOVEL CHMP3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000330015.2 3 16.887951 KEEP 0 1 31 67 2323 GG 1 1 0 - 19 60 697 1 0 49.410076 236 60 8933 396 ENST00000263856.4 0.07451 1 RNF103 7844 __UNKNOWN__ __UNKNOWN__ 2 86850022 86850022 __UNKNOWN__ 5'UTR SNP T T C rs396354 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:86850022T>C ENST00000237455.4 - 0 956 RNF103-CHMP3_ENST00000604011.1_Intron|CHMP3_ENST00000439940.2_Intron|RNF103_ENST00000477307.1_Intron NM_001198951.1|NM_005667.3 NP_001185880.1|NP_005658.1 O00237 RN103_HUMAN ring finger protein 103 NA NA central nervous system development (GO:0007417)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein ubiquitination (GO:0016567) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2) 25 TCCCTGGAGTTTCCTCTCTTT 0.582 NA C||| 3767 0.752196 0.8079 0.7104 5008 , , NA 13261 0.9375 NA 0.6998 False NA ,,, NA NA NA 2504 0.5695 NA NA NA NA 0 C ,,, 3534,852 1434,666,93 22 23 22 ,,, 0.2 0 2 dbSNP_80 22 6234,2356 2288,1658,349 no intron,utr-5,intron,utr-5 RNF103,RNF103-VPS24 NM_001198951.1,NM_001198952.1,NM_001198954.1,NM_005667.3 ,,, 3722,2324,442 CC,CT,TT 27.4272,19.4254,24.7226 ,,, ,,, 86850022 9768,3208 2193 4295 6488 SO:0001623 5_prime_UTR_variant D76444 CCDS33237.1 2p11.2 2013-01-09 2003-05-14 2003-05-16 ENSG00000239305 ENSG00000239305 7844 RING-type (C3HC4) zinc fingers 12859 protein-coding gene gene with protein product 602507 zinc finger protein 103 homolog (mouse) ZFP103 NA 9070305 Standard NM_005667 NM_005667 NA Approved hkf-1, KF1 uc021vkg.1 O00237 OTTHUMG00000153197 ENST00000237455.4:c.-13A>G chr2.hg19:g.86850022T>C NA A6NFV6|B2RAG4|Q53SU6|Q8IVB9 hg19 CCDS33237.1 0.02 8.8891 AGTxTCC COVERED NOVEL RNF103-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000330041.2 0 39.857749 KEEP 0 4 139 181 5711 TT 1 1 0 - 12 60 450 0 0 30.153219 223 60 7949 541 ENST00000237455.4 0.051064 1 CD8A 925 __UNKNOWN__ __UNKNOWN__ 2 87017034 87017034 __UNKNOWN__ Intron SNP C C G rs2944251 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:87017034C>G ENST00000409511.2 - 6 1434 CD8A_ENST00000352580.3_Intron|CD8A_ENST00000456996.2_Intron|CD8A_ENST00000538832.1_Intron|CD8A_ENST00000283635.3_Intron|CD8A_ENST00000409781.1_Intron NM_001145873.1 NP_001139345.1 P01732 CD8A_HUMAN CD8a molecule NA NA antigen processing and presentation (GO:0019882)|cytotoxic T cell differentiation (GO:0045065)|defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of calcium-mediated signaling (GO:0050850)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)|T cell mediated immunity (GO:0002456)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101) coreceptor activity (GO:0015026)|MHC class I protein binding (GO:0042288) lung(4)|ovary(1)|prostate(2)|urinary_tract(1) 8 TGCGCGCGGACCCCTGTGCTC 0.731 NA C||| 915 0.182708 0.23 0.1744 5008 , , NA 10751 0.2004 NA 0.1571 False NA ,,, NA NA NA 2504 0.1329 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS1992.1, CCDS1993.1 2p12 2014-09-17 2006-03-28 ENSG00000153563 ENSG00000153563 925 CD molecules, Immunoglobulin superfamily / V-set domain containing 1706 protein-coding gene gene with protein product 186910 CD8 antigen, alpha polypeptide (p32), T-cell surface glycoprotein CD8 alpha chain CD8 NA 1541829 Standard NM_001768 NM_171827 NA Approved uc002sru.3 P01732 OTTHUMG00000130265 ENST00000409511.2:c.404-161G>C chr2.hg19:g.87017034C>G NA B4DT80|D6W5M8|Q13970|Q4ZG17 hg19 CCDS1992.1 0.02 1.91045 GGAxCCC COVERED NOVEL CD8A-006 KNOWN alternative_5_UTR|basic|CCDS protein_coding NA protein_coding OTTHUMT00000330784.3 1 2.708291 KEEP 0 0 0 9 295 CC 0.99254 0.992503 0 - 6 60 222 0 0 15.208769 94 60 3402 117 ENST00000409511.2 0.06 0.999962 CD8B 926 __UNKNOWN__ __UNKNOWN__ 2 87073921 87073921 __UNKNOWN__ Intron SNP G G A rs115819014 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:87073921G>A ENST00000390655.6 - 4 552 CD8B_ENST00000349455.3_Intron|CD8B_ENST00000393761.2_Intron|CD8B_ENST00000393759.2_Intron|CD8B_ENST00000331469.2_Intron|CD8B_ENST00000431506.2_Intron NM_004931.4 NP_004922.1 P10966 CD8B_HUMAN CD8b molecule NA NA immune response (GO:0006955)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032) early endosome membrane (GO:0031901)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101) coreceptor activity (GO:0015026)|MHC class I protein binding (GO:0042288) NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 13 TGTGACATGTGTTCAACACGG 0.512 NA G||| 876 0.17492 0.0764 0.2911 5008 , , NA 18291 0.1577 NA 0.2087 False NA ,,, NA NA NA 2504 0.2086 NA NA NA NA 0 G ,,,, 439,3931 13,413,1759 44 37 39 ,,,, -1.2 0 2 dbSNP_132 39 1701,6851 165,1371,2740 no intron,intron,intron,intron,intron CD8B NM_001178100.1,NM_004931.4,NM_172101.3,NM_172102.3,NM_172213.3 ,,,, 178,1784,4499 AA,AG,GG 19.8901,10.0458,16.5609 ,,,, ,,,, 87073921 2140,10782 2185 4276 6461 SO:0001627 intron_variant CCDS1994.1, CCDS1995.1, CCDS42708.1, CCDS1997.1, CCDS54376.1 2p12 2013-01-11 2006-03-28 2006-03-09 ENSG00000172116 ENSG00000172116 926 CD molecules, Immunoglobulin superfamily / V-set domain containing 1707 protein-coding gene gene with protein product 186730 CD8 antigen, beta polypeptide 1 (p37) CD8B1 NA 1541829 Standard NM_172099 NM_172213 NA Approved uc002srw.3 P10966 OTTHUMG00000130264 ENST00000390655.6:c.494-25C>T chr2.hg19:g.87073921G>A NA P14860|P14861|Q15980|Q496E0|Q496E1|Q496E2|Q9UDB4|Q9UDB5|Q9UDB6|Q9UDB7|Q9UDB8|Q9UDB9|Q9UDC0|Q9UQ55 hg19 CCDS1997.1 0.02 2.073962 TGTxTTC COVERED NOVEL CD8B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000330402.1 0 3.009838 KEEP 0 0 0 10 356 GG 0.992708 0.989456 0 - 4 60 152 0 0 10.452122 66 60 2433 89 ENST00000390655.6 0.057143 0.996724 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 87586198 87586198 __UNKNOWN__ IGR SNP A A T rs12151413 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:87586198A>T NA NA IGKV3OR2-268 (20040 upstream) : LINC00152 (168688 downstream) NA NA NA tgtggctcatatctgtcatcc 0.468 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.87586198A>T NA hg19 0.02 -0.280745 CATxTCT COVERED NOVEL 0 3 3.309276 KEEP 2 0 0 11 328 AA 0.993072 0.734547 0 4 49 151 0 0 11.772939 28 60 1037 54 0.125 0.739671 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 87586370 87586370 __UNKNOWN__ IGR SNP G G A rs4117432 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:87586370G>A NA NA IGKV3OR2-268 (20212 upstream) : LINC00152 (168516 downstream) NA NA NA aatgtgggaggttttctcgag 0.458 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.87586370G>A NA hg19 0.02 -0.210559 GAGxTTT COVERED NOVEL 0 3 3.608544 KEEP 0 0 0 12 404 GG 0.993634 0.518837 0 3 40 107 0 0 8.204993 21 60 810 49 0.125 0.522161 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 87627368 87627368 __UNKNOWN__ IGR SNP C C T rs74385898 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:87627368C>T NA NA IGKV3OR2-268 (61210 upstream) : LINC00152 (127518 downstream) NA NA NA agtgagactccatctgaaaaa 0.498 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.87627368C>T NA hg19 0.02 -0.140366 CTCxATC COVERED NOVEL 0 8 3.009822 KEEP 1 0 0 10 351 CC 0.99254 0.289823 0 3 58 108 0 0 8.878381 13 60 461 33 0.1875 0.292001 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 87627476 87627476 __UNKNOWN__ IGR SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:87627476C>T NA NA IGKV3OR2-268 (61318 upstream) : LINC00152 (127410 downstream) NA NA NA ggtgaaaccccgtctcttcta 0.463 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.87627476C>T NA hg19 0.02 -0.140346 CCCxGTC COVERED NOVEL 0 3 3.603615 KEEP 3 0 0 12 380 CC 0.992708 0.259062 0 4 47 150 0 0 13.423813 9 60 309 34 0.307692 0.260965 THNSL2 55258 __UNKNOWN__ __UNKNOWN__ 2 88470593 88470593 __UNKNOWN__ Intron SNP G G A rs79892776 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:88470593G>A ENST00000449349.1 + 2 104 THNSL2_ENST00000358591.2_Intron|THNSL2_ENST00000377254.3_Intron|THNSL2_ENST00000343544.4_Intron|THNSL2_ENST00000402102.1_Intron Q86YJ6 THNS2_HUMAN threonine synthase-like 2 (S. cerevisiae) NA NA 2-oxobutyrate biosynthetic process (GO:0046360)|dephosphorylation (GO:0016311)|serine family amino acid catabolic process (GO:0009071) extracellular space (GO:0005615) lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|serine binding (GO:0070905) breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2) 27 AATCCCAGGGGACACGTAGTC 0.473 NA G||| 465 0.0928514 0.0552 0.2522 5008 , , NA 17392 0.0754 NA 0.1083 False NA ,,, NA NA NA 2504 0.0327 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS2002.2, CCDS58718.1, CCDS74539.1 2p11.2 2007-06-20 ENSG00000144115 ENSG00000144115 55258 25602 protein-coding gene gene with protein product 611261 NA 17034760 Standard NM_018271 NM_018271 NA Approved FLJ10916 uc021vkr.1 Q86YJ6 OTTHUMG00000130314 ENST00000449349.1:c.-77-153G>A chr2.hg19:g.88470593G>A NA B3KTB1|B5MDX8|B7WPF8|D9ZZB8|Q6P2M7|Q6PI27|Q9NV54 hg19 0.02 4.49299 GGGxACA COVERED NOVEL THNSL2-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000338223.1 2 2.407913 KEEP 0 0 0 8 287 GG 0.99257 0.992565 0 + 5 60 188 0 0 12.315291 107 60 3729 122 ENST00000449349.1 0.044643 0.999995 THNSL2 55258 __UNKNOWN__ __UNKNOWN__ 2 88485064 88485064 __UNKNOWN__ Intron SNP A A G rs370551703 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:88485064A>G ENST00000449349.1 + 7 887 THNSL2_ENST00000358591.2_Intron|THNSL2_ENST00000324166.5_Intron|THNSL2_ENST00000496844.1_Intron|THNSL2_ENST00000377254.3_Intron|THNSL2_ENST00000343544.4_Intron|THNSL2_ENST00000402102.1_Intron Q86YJ6 THNS2_HUMAN threonine synthase-like 2 (S. cerevisiae) NA NA 2-oxobutyrate biosynthetic process (GO:0046360)|dephosphorylation (GO:0016311)|serine family amino acid catabolic process (GO:0009071) extracellular space (GO:0005615) lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|serine binding (GO:0070905) breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2) 27 CTTCTTCTCCAAGCAGTGGGA 0.547 NA A||| 3 0.000599042 0.0 0.0 5008 , , NA 16229 0.002 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 A 1,1383 0,1,691 96 92 93 2.3 0 2 93 0,3182 0,0,1591 no intron THNSL2 NM_018271.4 0,1,2282 GG,GA,AA 0.0,0.0723,0.0219 88485064 1,4565 692 1591 2283 SO:0001627 intron_variant CCDS2002.2, CCDS58718.1, CCDS74539.1 2p11.2 2007-06-20 ENSG00000144115 ENSG00000144115 55258 25602 protein-coding gene gene with protein product 611261 NA 17034760 Standard NM_018271 NM_018271 NA Approved FLJ10916 uc021vkr.1 Q86YJ6 OTTHUMG00000130314 ENST00000449349.1:c.707-353A>G chr2.hg19:g.88485064A>G NA B3KTB1|B5MDX8|B7WPF8|D9ZZB8|Q6P2M7|Q6PI27|Q9NV54 hg19 0.02 11.238547 TCCxAGC COVERED NOVEL THNSL2-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000338223.1 1 7.2051 KEEP 0 0 0 24 718 AA 0.999909 0.999909 0 + 12 60 417 0 0 25.841383 273 60 9905 364 ENST00000449349.1 0.042105 1 EIF2AK3 9451 __UNKNOWN__ __UNKNOWN__ 2 88879131 88879131 __UNKNOWN__ Silent SNP T T C rs1805164 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:88879131T>C ENST00000303236.3 - 11 2092 c.1791A>G c.(1789-1791)caA>caG p.Q597Q EIF2AK3_ENST00000419748.1_Silent_p.Q446Q NM_004836.5 NP_004827.4 Q9NZJ5 E2AK3_HUMAN eukaryotic translation initiation factor 2-alpha kinase 3 597 Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}. NA activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|bone mineralization (GO:0030282)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|chondrocyte development (GO:0002063)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum organization (GO:0007029)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|fat cell differentiation (GO:0045444)|insulin secretion (GO:0030073)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of myelination (GO:0031642)|negative regulation of translation (GO:0017148)|negative regulation of translational initiation in response to stress (GO:0032057)|ossification (GO:0001503)|positive regulation of protein binding (GO:0032092)|positive regulation of signal transduction (GO:0009967)|protein autophosphorylation (GO:0046777)|protein homooligomerization (GO:0051260)|protein phosphorylation (GO:0006468)|regulation of fatty acid metabolic process (GO:0019217)|response to endoplasmic reticulum stress (GO:0034976)|skeletal system development (GO:0001501)|SREBP signaling pathway (GO:0032933)|translation (GO:0006412) cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020) ATP binding (GO:0005524)|enzyme binding (GO:0019899)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674) ovary(3) 3 GTCCCAGGCATTGAATTGGCT 0.338 NA T||| 1293 0.258187 0.1989 0.3617 5008 , , NA 17972 0.3115 NA 0.3062 False NA ,,, NA NA NA 2504 0.1605 NA NA NA GBM(138;671 1851 16235 39058 45249) NA 0 T 955,3451 361.1+/-315.5 104,747,1352 84 82 83 1791 3.2 1 2 dbSNP_89 83 2597,6003 420.0+/-353.3 404,1789,2107 no coding-synonymous EIF2AK3 NM_004836.5 508,2536,3459 CC,CT,TT 30.1977,21.675,27.3105 597/1117 88879131 3552,9454 2203 4300 6503 SO:0001819 synonymous_variant AF110146 CCDS33241.1 2p12 2008-05-21 ENSG00000172071 ENSG00000172071 9451 3255 protein-coding gene gene with protein product 604032 NA 10026192, 10575235 Standard NM_004836 NM_004836 NA Approved PEK, PERK uc002stc.4 Q9NZJ5 OTTHUMG00000155046 ENST00000303236.3:c.1791A>G chr2.hg19:g.88879131T>C NA A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1 hg19 CCDS33241.1 0.02 8.76633 GCAxTGA COVERED NOVEL EIF2AK3-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000338233.2 0 3.784926 KEEP 0 2 76 39 1296 TT 1 1 0 - 9 60 344 0 0 21.88491 240 60 8658 352 ENST00000303236.3 0.036145 1 RPIA 22934 __UNKNOWN__ __UNKNOWN__ 2 88999476 88999476 __UNKNOWN__ Intron SNP G G A rs1158603 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:88999476G>A ENST00000283646.4 + 3 401 NM_144563.2 NP_653164.2 P49247 RPIA_HUMAN ribose 5-phosphate isomerase A NA NA carbohydrate metabolic process (GO:0005975)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|ribose phosphate metabolic process (GO:0019693)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231) monosaccharide binding (GO:0048029)|ribose-5-phosphate isomerase activity (GO:0004751) breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1) 18 Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287) ATGACAAGAAGAATAAAGTAA 0.453 NA A||| 2348 0.46885 0.7474 0.4784 5008 , , NA 20969 0.3581 NA 0.4155 False NA ,,, NA NA NA 2504 0.2546 NA NA NA NA 0 A 2634,1104 930,774,165 75 74 75 -1.7 0 2 dbSNP_87 75 3473,4735 758,1957,1389 no intron RPIA NM_144563.2 1688,2731,1554 AA,AG,GG 42.3124,29.5345,48.8783 88999476 6107,5839 1869 4104 5973 SO:0001627 intron_variant L35035 CCDS2004.2 2p11.2 2008-07-31 2008-07-31 ENSG00000153574 ENSG00000153574 22934 5.3.1.6 10297 protein-coding gene gene with protein product ribose 5-phosphate epimerase 180430 NA 7758956 Standard NM_144563 NA Approved uc002ste.3 P49247 OTTHUMG00000130333 ENST00000283646.4:c.347-51G>A chr2.hg19:g.88999476G>A NA Q541P9|Q96BJ6 hg19 CCDS2004.2 0.02 13.583132 GAAxAAT COVERED NOVEL RPIA-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252683.2 4 7.33079 KEEP 0 3 102 60 2155 GG 1 1 0 + 11 60 386 0 0 22.377845 358 60 13714 529 ENST00000283646.4 0.02981 1 CH17-132F21.1 0 __UNKNOWN__ __UNKNOWN__ 2 90458606 90458606 __UNKNOWN__ Silent SNP C C T rs368855200 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:90458606C>T ENST00000603238.1 + 2 282 c.282C>T c.(280-282)acC>acT p.T94T NA NA NA ACACTCTCACCATCCGCAGCC 0.493 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001819 synonymous_variant NA NA NA NA ENST00000603238.1:c.282C>T chr2.hg19:g.90458606C>T NA hg19 0.02 36.707271 CACxATC COVERED NOVEL CH17-132F21.1-001 PUTATIVE not_best_in_genome_evidence|mRNA_end_NF|cds_end_NF|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000468882.1 4 6.69725 KEEP 103 8 247 109 3775 CC 1 1 0 + 85 49 3040 0 0 226.652753 722 51 26513 1163 ENST00000603238.1 0.105328 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 90458735 90458735 __UNKNOWN__ IGR SNP A A G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:90458735A>G NA NA CH17-132F21.1 (64 upstream) : RP11-685N3.1 (79103 downstream) NA NA NA GGCTGCCCCAATGCTCCTTCT 0.502 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.90458735A>G NA hg19 0.02 16.027492 CCAxTGC COVERED NOVEL 0 0 7.422428 KEEP 176 3 104 61 1798 AA 1 1 0 28 39 1011 0 0 70.913505 357 47 12924 668 0.072727 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 90468104 90468104 __UNKNOWN__ IGR SNP G G T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:90468104G>T NA NA CH17-132F21.1 (9433 upstream) : RP11-685N3.1 (69734 downstream) NA NA NA aatcagccaggcactgtattc 0.557 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.90468104G>T NA hg19 0.02 -0.157916 CAGxCAC UNCOVERED NOVEL 0 1 2.407804 KEEP 1 0 0 8 281 GG 0 0 0 3 49 110 0 0 8.90952 15 50 553 30 0.166667 0.322807 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 90479603 90479603 __UNKNOWN__ IGR SNP C C T rs60263454 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:90479603C>T NA NA CH17-132F21.1 (20932 upstream) : RP11-685N3.1 (58235 downstream) NA NA NA ccaccacgcccggccctattt 0.498 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.90479603C>T NA hg19 0.02 -0.245609 GCCxGGC COVERED NOVEL 0 11 11.136187 KEEP 0 0 0 37 1298 CC 1 0.641347 0 3 40 107 0 0 7.991838 25 60 844 86 0.107143 0.641347 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 91678982 91678982 __UNKNOWN__ IGR SNP G G A rs6594281 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:91678982G>A NA NA None (None upstream) : RP11-575H3.1 (89410 downstream) NA NA NA GATTATACTCGGTCAGTGTGC 0.493 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.91678982G>A NA hg19 0.02 7.011186 CTCxGTC COVERED NOVEL 0 3 2.542414 KEEP 56 1 33 20 640 GG 0.99986 0.99986 0 16 42 596 0 0 44.085493 157 50 5222 272 0.092486 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 91691018 91691018 __UNKNOWN__ IGR SNP C C T rs146264988|rs6730978 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:91691018C>T NA NA None (None upstream) : RP11-575H3.1 (77374 downstream) NA NA NA accaagatcacgccactgcac 0.473 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.91691018C>T NA hg19 0.02 -0.193009 TCAxGCC COVERED NOVEL 0 2 2.708813 KEEP 1 0 0 9 315 CC 0.99254 0.454342 0 3 42 115 0 0 9.126099 19 60 695 41 0.136364 0.457757 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 91766609 91766609 __UNKNOWN__ IGR SNP G G A rs2433883 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:91766609G>A NA NA None (None upstream) : RP11-575H3.1 (1783 downstream) NA NA NA TATGGGGGTTGTAATGTTTAT 0.343 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.91766609G>A NA hg19 0.02 41.163121 GTTxTAA COVERED NOVEL 0 6 21.750361 KEEP 1 11 326 187 6610 GG 1 1 0 51 60 1853 0 0 124.129052 867 60 32771 1294 0.055556 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 91801784 91801784 __UNKNOWN__ IGR SNP C C A rs13400002 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:91801784C>A NA NA RP11-575H3.1 (32864 upstream) : AC027612.6 (3401 downstream) NA NA NA ttgcctcagcctccagaatag 0.473 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.91801784C>A NA hg19 0.02 -0.157919 AGCxTCC COVERED NOVEL 0 4 2.708603 KEEP 1 0 0 9 316 CC 0.99257 0.320408 0 3 60 113 0 0 9.209443 15 60 560 30 0.166667 0.322807 AC027612.6 0 __UNKNOWN__ __UNKNOWN__ 2 91805444 91805444 __UNKNOWN__ RNA SNP G G A rs12612073 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:91805444G>A ENST00000609777.1 - 0 935 NA NA NA aagtgaatttgtggagtatta 0.448 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000609777.1: chr2.hg19:g.91805444G>A NA hg19 0.02 1.971676 TTTxTGG COVERED NOVEL AC027612.6-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000471986.1 0 4.815741 KEEP 2 0 0 16 573 GG 0.99649 0.996385 0 - 9 60 336 0 0 25.054769 84 60 3175 142 ENST00000609777.1 0.096774 0.999895 AC027612.6 0 __UNKNOWN__ __UNKNOWN__ 2 91815800 91815800 __UNKNOWN__ RNA SNP A A G rs1640022 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:91815800A>G ENST00000609777.1 - 0 199 NA NA NA atcaaatcagaccacctgcta 0.438 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000609777.1: chr2.hg19:g.91815800A>G NA hg19 0.02 -0.13153 CAGxCCA COVERED NOVEL AC027612.6-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000471986.1 2 3.310254 KEEP 0 0 0 11 354 AA 0.993072 0.227586 0 - 10 60 352 0 0 35.817885 5 60 170 33 ENST00000609777.1 0.666667 0.229173 AC027612.3 0 __UNKNOWN__ __UNKNOWN__ 2 91895932 91895932 __UNKNOWN__ RNA SNP G G T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:91895932G>T ENST00000436174.1 - 0 168 NA NA NA gcattctcctgcctcagcctc 0.507 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000436174.1: chr2.hg19:g.91895932G>T NA hg19 0.02 -0.07797 CCTxCCT UNCOVERED NOVEL AC027612.3-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000338339.1 0 3.009779 KEEP 2 0 0 10 350 GG 0.99254 0.076759 0 - 2 25 74 0 0 6.416427 6 50 195 25 ENST00000436174.1 0.25 0.077336 AC027612.3 0 __UNKNOWN__ __UNKNOWN__ 2 91895944 91895944 __UNKNOWN__ RNA SNP C C T rs111637440 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:91895944C>T ENST00000436174.1 - 0 168 NA NA NA ctcagcctcccgagtagctgg 0.527 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000436174.1: chr2.hg19:g.91895944C>T NA hg19 0.02 -0.060048 TCCxGAG UNCOVERED NOVEL AC027612.3-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000338339.1 0 2.407749 KEEP 2 0 0 8 272 CC 0 0 0 - 2 25 74 0 0 6.72789 4 50 109 21 ENST00000436174.1 0.333333 0.043787 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 91917364 91917364 __UNKNOWN__ IGR SNP G G A rs141400902 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:91917364G>A NA NA AC027612.3 (17228 upstream) : AC027612.2 (34586 downstream) NA NA NA gggggaggctgtactaagctg 0.483 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.91917364G>A NA hg19 0.02 -0.298259 GCTxTAC COVERED NOVEL 0 6 5.104575 KEEP 1 0 0 17 587 GG 0.999366 0.780565 0 3 53 114 0 0 8.691481 25 60 944 72 0.107143 0.78106 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 91927406 91927406 __UNKNOWN__ IGR SNP A A C rs62143841 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:91927406A>C NA NA AC027612.3 (27270 upstream) : AC027612.2 (24544 downstream) NA NA NA CCGAGGGAGCAGTGGTCAACG 0.567 NA a||| 1 0.000199681 0.0 0.0 5008 , , NA 17855 0.0 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.91927406A>C NA hg19 0.02 4.120378 AGCxGTG COVERED NOVEL 0 1 3.909873 KEEP 8 0 0 13 386 AA 0.994391 0.994383 0 8 42 254 0 0 16.910864 98 60 3656 158 0.075472 0.999992 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 91977583 91977583 __UNKNOWN__ IGR SNP T T A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:91977583T>A NA NA AC027612.2 (25539 upstream) : SLC9B1P2 (102914 downstream) NA NA NA ctgaccaacatggtgaaaccc 0.502 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.91977583T>A NA hg19 0.02 -0.114052 ACAxGGT UNCOVERED NOVEL 0 3 2.406393 KEEP 6 0 0 8 238 TT 0 0 0 3 28 105 0 0 9.132169 8 60 298 24 0.272727 0.162467 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 91977678 91977678 __UNKNOWN__ IGR SNP T T C rs62145473 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:91977678T>C NA NA AC027612.2 (25634 upstream) : SLC9B1P2 (102819 downstream) NA NA NA gctaggagaattacttgaccc 0.458 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.91977678T>C NA hg19 0.02 -0.175468 GAAxTAC UNCOVERED NOVEL 0 2 3.910311 KEEP 14 0 0 13 391 TT 0 0 0 3 20 118 1 0 10.300813 9 40 340 52 0.25 0.387407 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 92296341 92296341 __UNKNOWN__ IGR SNP G G T rs80209593 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:92296341G>T NA NA SLC9B1P2 (194103 upstream) : None (None downstream) NA NA NA gacatttggagcgctttcagg 0.403 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.92296341G>T NA hg19 0.02 -0.228103 GGAxCGC UNCOVERED NOVEL 0 4 4.815964 KEEP 35 0 0 16 587 GG 0 0 0 5 20 184 0 0 19.611258 1 43 37 83 0.833333 0.58293 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 92297388 92297388 __UNKNOWN__ IGR SNP A A G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:92297388A>G NA NA SLC9B1P2 (195150 upstream) : None (None downstream) NA NA NA gaaaaaggaaatatcttcccc 0.393 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.92297388A>G NA hg19 0.02 -0.280741 GAAxTAT UNCOVERED NOVEL 0 4 3.310382 KEEP 46 0 0 11 361 AA 0 0 0 4 27 152 0 0 13.471083 10 24 356 104 0.285714 0.760887 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 92308508 92308508 __UNKNOWN__ IGR SNP A A G rs2172570 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:92308508A>G NA NA SLC9B1P2 (206270 upstream) : None (None downstream) NA NA NA attctcagaaacttcattggg 0.363 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.92308508A>G NA hg19 0.02 2.255818 GAAxCTT COVERED NOVEL 0 26 12.639653 KEEP 94 0 0 42 1398 AA 0.99649 0.994052 0 8 40 296 2 0 33.416122 0 0 0 256 1 0.997553 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 92318592 92318592 __UNKNOWN__ IGR SNP C C A rs4111652 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:92318592C>A NA NA SLC9B1P2 (216354 upstream) : None (None downstream) NA NA NA agttttgaaactctctttttg 0.388 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.92318592C>A NA hg19 0.02 -0.280711 AAAxTCT COVERED NOVEL 0 9 4.815546 KEEP 19 0 0 16 553 CT 0.997832 0.759237 0 3 40 106 0 0 8.771771 12 40 438 81 0.2 0.760887 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 92319919 92319919 __UNKNOWN__ IGR SNP T T G rs138432968 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:92319919T>G NA NA SLC9B1P2 (217681 upstream) : None (None downstream) NA NA NA gctaacagagttgaacctttc 0.368 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.92319919T>G NA hg19 0.02 2.267954 GAGxTGA COVERED NOVEL 0 37 11.435902 KEEP 105 0 0 38 1256 TT 0.993072 0.992484 0 4 45 147 0 0 10.056838 62 47 2251 267 0.060606 0.999407 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 92320435 92320435 __UNKNOWN__ IGR SNP T T G rs4393208 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:92320435T>G NA NA SLC9B1P2 (218197 upstream) : None (None downstream) NA NA NA gtgttgaacattccctttcat 0.398 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.92320435T>G NA hg19 0.02 9.554933 ACAxTCC COVERED NOVEL 0 42 5.666984 KEEP 88 5 178 81 2567 TT 1 1 0 11 40 429 0 0 38.369814 26 55 942 522 0.297297 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 92321009 92321009 __UNKNOWN__ IGR SNP C C T rs149753254 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:92321009C>T NA NA SLC9B1P2 (218771 upstream) : None (None downstream) NA NA NA ggatatttgtctagctttgag 0.378 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.92321009C>T NA hg19 0.02 -0.245644 TGTxTAG COVERED NOVEL 0 16 5.718395 KEEP 41 0 0 19 669 AC 0.99649 0.832783 0 3 40 113 0 0 8.864031 20 47 727 116 0.130435 0.835716 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 92325055 92325055 __UNKNOWN__ IGR SNP T T C rs4309040 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:92325055T>C NA NA SLC9B1P2 (222817 upstream) : None (None downstream) NA NA NA acactctttttgtaaaatctg 0.373 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.92325055T>C NA hg19 0.02 6.598583 TTTxGTA COVERED NOVEL 0 17 15.447578 KEEP 153 3 105 88 2656 TT 1 1 0 8 22 289 1 0 20.404048 98 40 3433 449 0.075472 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 92325079 92325079 __UNKNOWN__ IGR SNP G G T rs4120206 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:92325079G>T NA NA SLC9B1P2 (222841 upstream) : None (None downstream) NA NA NA gaggatatttggatagctttg 0.373 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.92325079G>T NA hg19 0.02 9.100829 TTTxGAT COVERED NOVEL 0 19 22.478463 KEEP 200 3 95 108 3865 GG 1 1 0 13 40 475 2 0 33.768479 157 40 5943 665 0.076471 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 92325136 92325136 __UNKNOWN__ IGR SNP A A T rs59167504 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:92325136A>T NA NA SLC9B1P2 (222898 upstream) : None (None downstream) NA NA NA ctctagacagaagcattctca 0.368 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.92325136A>T NA hg19 0.02 12.539425 CAGxAGC COVERED NOVEL 0 18 12.962037 KEEP 221 7 228 123 3764 AA 1 1 0 10 40 351 0 0 22.093997 216 40 7926 768 0.044248 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 92325239 92325239 __UNKNOWN__ IGR SNP A A T rs11491325 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:92325239A>T NA NA SLC9B1P2 (223001 upstream) : None (None downstream) NA NA NA agtatctggaagtggacattt 0.383 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.92325239A>T NA hg19 0.02 8.154496 GGAxGTG COVERED NOVEL 0 10 3.316369 KEEP 166 6 197 80 2523 AA 0.999999 0.999999 0 11 40 404 0 0 29.284181 119 40 4394 485 0.084615 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 95527886 95527886 __UNKNOWN__ IGR SNP C C A rs201993359 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:95527886C>A NA NA ANKRD20A8P (4859 upstream) : AC097374.2 (5344 downstream) NA NA NA CACCGCCCTGCACTTGGCAGC 0.597 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.95527886C>A NA hg19 0.02 4.26367 CTGxACT COVERED NOVEL 0 0 3.912757 KEEP 0 0 0 13 458 CC 0.994391 0.994372 0 14 60 486 0 0 39.17076 66 60 2466 138 0.175 0.999981 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 95527978 95527978 __UNKNOWN__ IGR SNP C C T rs199518866 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:95527978C>T NA NA ANKRD20A8P (4951 upstream) : AC097374.2 (5252 downstream) NA NA NA GGGAAAAGGGCCTCCCAGTAT 0.602 NA .||| 3 0.000599042 0.0023 0.0 5008 , , NA 19694 0.0 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.95527978C>T NA hg19 0.02 4.165362 GGGxCTC COVERED NOVEL 0 3 4.815564 KEEP 2 0 0 16 567 CC 0.997832 0.997832 0 5 57 180 0 0 11.906492 89 60 3226 199 0.053191 1 TEKT4 150483 __UNKNOWN__ __UNKNOWN__ 2 95537245 95537245 __UNKNOWN__ 5'UTR SNP C C G rs4854234 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:95537245C>G ENST00000295201.4 + 0 58 AC097374.2_ENST00000568768.1_RNA NM_144705.2 NP_653306.1 Q8WW24 TEKT4_HUMAN tektin 4 NA NA cell projection organization (GO:0030030) cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634) NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 28 GGAGCTGCCCCGCTGACCGCA 0.652 NA .||| 2114 0.422125 0.5091 0.4452 5008 , , NA 17800 0.4792 NA 0.337 False NA ,,, NA NA NA 2504 0.317 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AK097438 CCDS2005.1 2q11.2 2008-02-05 ENSG00000163060 ENSG00000163060 150483 31012 protein-coding gene gene with protein product NA Standard NM_144705 XM_005263876 NA Approved MGC27019 uc002stw.1 Q8WW24 OTTHUMG00000130396 ENST00000295201.4:c.-80C>G chr2.hg19:g.95537245C>G NA hg19 CCDS2005.1 0.02 2.140655 CCCxGCT COVERED NOVEL TEKT4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252777.1 1 2.708758 KEEP 0 0 0 9 314 CC 0.99254 0.956584 0 + 5 60 134 0 0 8.7129 46 60 1666 68 ENST00000295201.4 0.098039 0.963774 TEKT4 150483 __UNKNOWN__ __UNKNOWN__ 2 95537622 95537622 __UNKNOWN__ Missense_Mutation SNP A A G rs11164112 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:95537622A>G ENST00000295201.4 + 1 435 c.298A>G c.(298-300)Agc>Ggc p.S100G AC097374.2_ENST00000568768.1_RNA|TEKT4_ENST00000427593.2_Missense_Mutation_p.S100G NM_144705.2 NP_653306.1 Q8WW24 TEKT4_HUMAN tektin 4 100 NA S -> G (in dbSNP:rs11164112). cell projection organization (GO:0030030) cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634) NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 28 GGACACGCACAGCTGGAAGTC 0.687 NA .||| 2141 0.427516 0.5166 0.4467 5008 , , NA 17318 0.4881 NA 0.3419 False NA ,,, NA NA NA 2504 0.319 NA NA NA NA 0 G GLY/SER 2150,2232 542,1066,583 15 14 15 298 -0.6 0.3 2 dbSNP_120 15 3138,5444 576,1986,1729 no missense TEKT4 NM_144705.2 56 1118,3052,2312 GG,GA,AA 36.5649,49.0644,40.7899 benign 100/436 95537622 5288,7676 2191 4291 6482 SO:0001583 missense AK097438 CCDS2005.1 2q11.2 2008-02-05 ENSG00000163060 ENSG00000163060 150483 31012 protein-coding gene gene with protein product NA Standard NM_144705 XM_005263876 NA Approved MGC27019 uc002stw.1 Q8WW24 OTTHUMG00000130396 ENST00000295201.4:c.298A>G chr2.hg19:g.95537622A>G ENSP00000295201:p.Ser100Gly NA hg19 CCDS2005.1 0.02 6.285573 CACxGCT COVERED 891 0.40796703296703296 246 0.5 139 0.3839779005524862 261 0.4562937062937063 245 0.3232189973614776 . 0.056 -1.235674 0.01505 0.490644 0.365649 ENSG00000163060 ENST00000295201;ENST00000427593 T;T 0.02579 4.24;4.24 1.97 -0.615 0.11587 . 0.633849 0.15549 N 0.256532 T 0.00012 0.0000 N 0.01048 -1.04 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.17776 -1.0358 9 0.27082 T 0.32 -5.0599 3.6684 0.08265 0.1555:0.0:0.2897:0.5547 rs11164112 100 Q8WW24 TEKT4_HUMAN G 100 ENSP00000295201:S100G;ENSP00000407596:S100G ENSP00000295201:S100G S + 1 0 TEKT4 94901349 0.608000 0.26966 0.328000 0.25416 0.040000 0.13550 0.388000 0.20735 -0.228000 0.09869 -1.144000 0.01866 AGC NOVEL TEKT4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252777.1 1 6.919882 KEEP 1 0 0 23 704 AA 0.999892 0.999892 0 + 8 60 273 0 0 16.974895 169 60 6217 225 ENST00000295201.4 0.045198 1 TEKT4 150483 __UNKNOWN__ __UNKNOWN__ 2 95540642 95540642 __UNKNOWN__ Missense_Mutation SNP G G A rs146551570 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:95540642G>A ENST00000295201.4 + 4 972 c.835G>A c.(835-837)Gag>Aag p.E279K AC097374.2_ENST00000568768.1_RNA NM_144705.2 NP_653306.1 Q8WW24 TEKT4_HUMAN tektin 4 279 NA cell projection organization (GO:0030030) cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634) NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 28 CGACACCTCCGAGGACCTGCG 0.677 NA .||| 18 0.00359425 0.0008 0.0 5008 , , NA 13073 0.0169 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 G LYS/GLU 2,4402 0,2,2200 26 32 30 835 2.2 0.7 2 dbSNP_134 30 0,8596 0,0,4298 no missense TEKT4 NM_144705.2 56 0,2,6498 AA,AG,GG 0.0,0.0454,0.0154 possibly-damaging 279/436 95540642 2,12998 2202 4298 6500 SO:0001583 missense AK097438 CCDS2005.1 2q11.2 2008-02-05 ENSG00000163060 ENSG00000163060 150483 31012 protein-coding gene gene with protein product NA Standard NM_144705 XM_005263876 NA Approved MGC27019 uc002stw.1 Q8WW24 OTTHUMG00000130396 ENST00000295201.4:c.835G>A chr2.hg19:g.95540642G>A ENSP00000295201:p.Glu279Lys NA hg19 CCDS2005.1 0.02 1.93661 TCCxAGG COVERED 7 0.003205128205128205 0 0.0 0 0.0 7 0.012237762237762238 0 0.0 . 16.83 3.230552 0.58777 4.54E-4 0.0 ENSG00000163060 ENST00000295201 T 0.02606 4.23 2.19 2.19 0.27852 . 0.114840 0.56097 D 0.000024 T 0.05181 0.0138 M 0.72576 2.205 0.80722 D 1 D 0.65815 0.995 P 0.54499 0.754 T 0.37820 -0.9689 10 0.30078 T 0.28 -13.5084 10.0565 0.42248 0.0:0.0:1.0:0.0 . 279 Q8WW24 TEKT4_HUMAN K 279 ENSP00000295201:E279K ENSP00000295201:E279K E + 1 0 TEKT4 94904369 0.996000 0.38824 0.691000 0.30163 0.381000 0.30169 2.507000 0.45442 1.235000 0.43724 0.466000 0.42574 GAG NOVEL TEKT4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252777.1 0 6.921355 KEEP 0 0 0 23 778 GG 0.999892 0.999832 0 + 4 60 153 0 0 9.97083 93 60 3422 152 ENST00000295201.4 0.041237 0.99994 AC097374.2 0 __UNKNOWN__ __UNKNOWN__ 2 95588091 95588091 __UNKNOWN__ RNA SNP C C T rs199686463 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:95588091C>T ENST00000568768.1 - 0 476 NA NA NA ctcatgtccccaagtagttgg 0.498 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000568768.1: chr2.hg19:g.95588091C>T NA hg19 0.02 -0.078958 CCCxAAG UNCOVERED NOVEL AC097374.2-003 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000431504.1 7 3.009851 KEEP 5 0 0 10 355 CC 0 0 0 - 4 59 147 0 0 13.923368 5 60 183 26 ENST00000568768.1 0.444444 0.077336 MRPS5 64969 __UNKNOWN__ __UNKNOWN__ 2 95787745 95787745 __UNKNOWN__ 5'UTR SNP G G T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:95787745G>T ENST00000272418.2 - 0 0 MRPS5_ENST00000475040.1_Intron NM_031902.3 NP_114108.1 P82675 RT05_HUMAN mitochondrial ribosomal protein S5 NA NA translation (GO:0006412) mitochondrion (GO:0005739)|ribosome (GO:0005840) poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735) central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 20 CCCCGCGGGCGCCTCCCGTTA 0.786 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AB049940 CCDS2010.1 2p11.2-q11.2 2012-09-13 ENSG00000144029 ENSG00000144029 64969 Mitochondrial ribosomal proteins / small subunits 14498 protein-coding gene gene with protein product mitochondrial 28S ribosomal protein S5 611972 NA Standard NM_031902 NM_031902 NA Approved MRP-S5, S5mt uc002sub.3 P82675 OTTHUMG00000130394 ENST00000272418.2:c.-209C>A chr2.hg19:g.95787745G>T NA Q4ZFY5|Q96LJ6|Q9BWI4|Q9BYC4 hg19 CCDS2010.1 0.02 -0.284506 GGCxCCT COVERED NOVEL MRPS5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252772.1 0 4.563933 KEEP 0 1 6 18 387 GG 0.999863 0.780953 0 - 9 60 158 0 0 11.704078 24 60 631 58 ENST00000272418.2 0.272727 0.78106 PROM2 150696 __UNKNOWN__ __UNKNOWN__ 2 95952641 95952641 __UNKNOWN__ Intron SNP A A G rs1006021 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:95952641A>G ENST00000317620.9 + 18 2227 PROM2_ENST00000403131.2_Intron|PROM2_ENST00000317668.4_Intron|PROM2_ENST00000542147.1_Intron NM_001165978.1 NP_001159450.1 Q8N271 PROM2_HUMAN prominin 2 NA NA negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of pinocytosis (GO:0048550)|positive regulation of cell projection organization (GO:0031346)|positive regulation of protein phosphorylation (GO:0001934)|regulation of Cdc42 GTPase activity (GO:0043088) cell projection (GO:0042995)|cell surface (GO:0009986)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microspike (GO:0044393)|microvillus (GO:0005902)|prominosome (GO:0071914) cholesterol binding (GO:0015485) breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 32 GGTGGAGCACAGGGGCTGCAG 0.632 NA G||| 1174 0.234425 0.3555 0.3804 5008 , , NA 11920 0.1776 NA 0.1372 False NA ,,, NA NA NA 2504 0.1258 NA NA NA NA 0 G ,, 1429,2977 670.7+/-402.4 224,981,998 42 37 39 ,, 4.8 0 2 dbSNP_86 39 1179,7421 755.7+/-407.5 97,985,3218 no intron,intron,intron PROM2 NM_001165977.1,NM_001165978.1,NM_144707.2 ,, 321,1966,4216 GG,GA,AA 13.7093,32.433,20.0523 ,, ,, 95952641 2608,10398 2203 4300 6503 SO:0001627 intron_variant AF245303 CCDS2012.1 2q11.1 2008-02-05 ENSG00000155066 ENSG00000155066 150696 20685 protein-coding gene gene with protein product NA 12514187 Standard NM_144707 NM_001165978 NA Approved uc002sui.3 Q8N271 OTTHUMG00000130393 ENST00000317620.9:c.2094+36A>G chr2.hg19:g.95952641A>G NA A8K2V1|Q2HIX6|Q8NB84|Q8TAE2 hg19 CCDS2012.1 0.02 9.553519 CACxGGG COVERED NOVEL PROM2-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252771.1 2 5.115014 KEEP 0 0 0 17 525 AA 0.999366 0.999366 0 + 24 60 865 0 0 64.214901 213 60 7933 299 ENST00000317620.9 0.101266 1 KCNIP3 30818 __UNKNOWN__ __UNKNOWN__ 2 96040178 96040178 __UNKNOWN__ Intron SNP C C G rs117109173 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:96040178C>G ENST00000468529.1 + 2 520 KCNIP3_ENST00000360990.3_Intron|KCNIP3_ENST00000377181.2_Intron|KCNIP3_ENST00000295225.5_Intron NM_001034914.1 NP_001030086.1 Q9Y2W7 CSEN_HUMAN Kv channel interacting protein 3, calsenilin NA NA apoptotic process (GO:0006915)|behavioral response to pain (GO:0048266)|intracellular protein transport (GO:0006886)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neuron apoptotic process (GO:0043523)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351) axon terminus (GO:0043679)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993) calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|voltage-gated ion channel activity (GO:0005244) p.?(1) NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 16 READ - Rectum adenocarcinoma(193;0.13) TGTGAGTGTTCCCCATTCCCC 0.582 NA C||| 287 0.0573083 0.0023 0.2262 5008 , , NA 18872 0.1062 NA 0.0 False NA ,,, NA NA NA 2504 0.0204 NA NA NA NA 1 Unknown(1) stomach(1) C , 21,4385 24.3+/-50.5 0,21,2182 62 63 63 , 0.9 0 2 dbSNP_132 63 15,8585 9.1+/-34.3 0,15,4285 no intron,intron KCNIP3 NM_001034914.1,NM_013434.4 , 0,36,6467 GG,GC,CC 0.1744,0.4766,0.2768 , , 96040178 36,12970 2203 4300 6503 SO:0001627 intron_variant AF199599 CCDS2013.1, CCDS33245.1 2q21.1 2013-01-10 2006-02-11 2006-02-11 ENSG00000115041 ENSG00000115041 30818 EF-hand domain containing 15523 protein-coding gene gene with protein product 604662 calsenilin, presenilin-binding protein, EF hand transcription factor CSEN NA 9771752, 10078534 Standard NM_013434 NM_013434 NA Approved DREAM, KCHIP3, calsenilin uc002sup.3 Q9Y2W7 OTTHUMG00000130392 ENST00000468529.1:c.228+10C>G chr2.hg19:g.96040178C>G NA H7BY46|Q3YAC3|Q3YAC4|Q53TJ5|Q96T40|Q9UJ84|Q9UJ85 hg19 CCDS33245.1 0.02 4.534746 GTTxCCC COVERED NOVEL KCNIP3-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000338590.1 0 13.543778 KEEP 0 0 0 45 1586 CC 1 1 0 + 6 60 222 0 0 14.50784 124 60 4654 234 ENST00000468529.1 0.046154 1 FAHD2A 51011 __UNKNOWN__ __UNKNOWN__ 2 96071495 96071495 __UNKNOWN__ Silent SNP G G A rs191409292 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:96071495G>A ENST00000233379.4 + 2 342 c.189G>A c.(187-189)ccG>ccA p.P63P FAHD2A_ENST00000447036.1_Silent_p.P63P NM_016044.2 NP_057128.2 Q96GK7 FAH2A_HUMAN fumarylacetoacetate hydrolase domain containing 2A 63 NA hydrolase activity (GO:0016787)|metal ion binding (GO:0046872) breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1) 8 CCACACTCCCGAAGACGATGA 0.607 NA NA NA NA NA NA NA NA NA NA NA 0 114 87 96 NA NA 2 NA 96071495 2203 4300 6503 SO:0001819 synonymous_variant AF151863 CCDS2014.1 2q11.2 2008-02-05 ENSG00000115042 ENSG00000115042 51011 24252 protein-coding gene gene with protein product NA Standard NM_016044 NM_016044 NA Approved CGI-105 uc002sur.3 Q96GK7 OTTHUMG00000130397 ENST00000233379.4:c.189G>A chr2.hg19:g.96071495G>A NA Q9Y3B0 hg19 CCDS2014.1 0.02 4.170411 CCCxAAG COVERED NOVEL FAHD2A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252778.1 2 7.824761 KEEP 0 0 0 26 880 GG 0.999957 0.999956 0 + 24 40 841 0 0 69.094957 100 50 3655 185 ENST00000233379.4 0.193548 1 FAHD2A 51011 __UNKNOWN__ __UNKNOWN__ 2 96071501 96071501 __UNKNOWN__ Silent SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:96071501G>A ENST00000233379.4 + 2 348 c.195G>A c.(193-195)acG>acA p.T65T FAHD2A_ENST00000447036.1_Silent_p.T65T NM_016044.2 NP_057128.2 Q96GK7 FAH2A_HUMAN fumarylacetoacetate hydrolase domain containing 2A 65 NA hydrolase activity (GO:0016787)|metal ion binding (GO:0046872) breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1) 8 TCCCGAAGACGATGACGCAGT 0.617 NA NA NA NA NA NA NA NA NA NA NA 0 102 78 86 NA NA 2 NA 96071501 2203 4300 6503 SO:0001819 synonymous_variant AF151863 CCDS2014.1 2q11.2 2008-02-05 ENSG00000115042 ENSG00000115042 51011 24252 protein-coding gene gene with protein product NA Standard NM_016044 NM_016044 NA Approved CGI-105 uc002sur.3 Q96GK7 OTTHUMG00000130397 ENST00000233379.4:c.195G>A chr2.hg19:g.96071501G>A NA Q9Y3B0 hg19 CCDS2014.1 0.02 4.523959 GACxATG COVERED NOVEL FAHD2A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252778.1 2 4.523442 KEEP 7 1 34 27 878 GG 0.999957 0.999956 0 + 19 40 676 0 0 54.063065 99 50 3573 178 ENST00000233379.4 0.161017 0.999999 AC008268.2 0 __UNKNOWN__ __UNKNOWN__ 2 96459661 96459661 __UNKNOWN__ RNA SNP T T G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:96459661T>G ENST00000471661.1 + 0 491 NA NA NA GGTAGGGGTGTTTGAGAGGGG 0.567 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000471661.1: chr2.hg19:g.96459661T>G NA hg19 0.02 -0.35091 GTGxTTG UNCOVERED NOVEL AC008268.2-002 KNOWN basic retained_intron NA pseudogene OTTHUMT00000338692.1 2 5.115321 KEEP 46 0 0 17 547 TT 0 0 0 + 3 27 116 0 0 8.404566 37 50 1321 110 ENST00000471661.1 0.075 0.877708 ANKRD36C 400986 __UNKNOWN__ __UNKNOWN__ 2 96521220 96521220 __UNKNOWN__ Silent SNP G G A rs5005870 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:96521220G>A ENST00000456556.1 - 63 4873 c.4789C>T c.(4789-4791)Ctg>Ttg p.L1597L ANKRD36C_ENST00000419039.2_Silent_p.L624L|ANKRD36C_ENST00000420871.2_Silent_p.L848L Q5JPF3 AN36C_HUMAN ankyrin repeat domain 36C 1597 NA ion channel inhibitor activity (GO:0008200) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 GCATCATCCAGTTGCTGTTGA 0.343 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001819 synonymous_variant AL832836 2q11.1 2013-01-10 ENSG00000174501 ENSG00000174501 400986 Ankyrin repeat domain containing 32946 protein-coding gene gene with protein product protein immuno-reactive with anti-PTH polyclonal antibodies NA Standard NM_001010914 XR_251121 NA Approved DKFZp667P0924 uc002suz.1 Q5JPF3 OTTHUMG00000155211 ENST00000456556.1:c.4789C>T chr2.hg19:g.96521220G>A NA C9JZ08|Q15694|Q53S06|Q658V2 hg19 0.02 2.255782 CCAxTTG COVERED NOVEL ANKRD36C-001 KNOWN not_best_in_genome_evidence|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000338799.2 4 2.708391 KEEP 10 0 0 9 304 GG 0.99254 0.990111 0 - 12 47 427 0 0 34.33832 60 48 2246 93 ENST00000456556.1 0.166667 0.997553 ANKRD36C 400986 __UNKNOWN__ __UNKNOWN__ 2 96604473 96604473 __UNKNOWN__ Intron SNP T T A rs75003856 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:96604473T>A ENST00000456556.1 - 22 1718 Q5JPF3 AN36C_HUMAN ankyrin repeat domain 36C NA NA ion channel inhibitor activity (GO:0008200) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TTACATCAAATCCTTCCATCT 0.303 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL832836 2q11.1 2013-01-10 ENSG00000174501 ENSG00000174501 400986 Ankyrin repeat domain containing 32946 protein-coding gene gene with protein product protein immuno-reactive with anti-PTH polyclonal antibodies NA Standard NM_001010914 XR_251121 NA Approved DKFZp667P0924 uc002suz.1 Q5JPF3 OTTHUMG00000155211 ENST00000456556.1:c.1633+103A>T chr2.hg19:g.96604473T>A NA C9JZ08|Q15694|Q53S06|Q658V2 hg19 0.02 8.220092 AAAxCCT COVERED NOVEL ANKRD36C-001 KNOWN not_best_in_genome_evidence|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000338799.2 2 3.041778 KEEP 19 1 34 22 636 TT 0.999869 0.999869 0 - 32 59 1136 0 0 88.38728 201 60 7340 284 ENST00000456556.1 0.137339 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 96687684 96687684 __UNKNOWN__ IGR SNP A A G rs2918924 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:96687684A>G NA NA FAHD2CP (102 upstream) : GPAT2 (9 downstream) NA NA NA ACACACATACACCAAAAAGAT 0.463 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.96687684A>G NA hg19 0.02 24.316857 TACxCCA COVERED NOVEL 0 3 11.996047 KEEP 4 5 184 104 3112 AA 1 1 0 21 33 685 0 0 37.326368 702 60 24837 963 0.029046 1 ADRA2B 151 __UNKNOWN__ __UNKNOWN__ 2 96781853 96781853 __UNKNOWN__ Silent SNP T T C rs9333567 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:96781853T>C ENST00000409345.3 - 1 131 c.36A>G c.(34-36)acA>acG p.T12T NM_000682.5 NP_000673 P18089 ADA2B_HUMAN adrenoceptor alpha 2B 12 NA activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|MAPK cascade (GO:0000165)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|platelet activation (GO:0030168)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of vascular smooth muscle contraction (GO:0003056) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379) endometrium(2)|large_intestine(2)|lung(9)|ovary(3) 16 Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Etomidate(DB00292)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246) CTATGGCCGCTGTGGCCTGCA 0.677 NA C||| 483 0.0964457 0.0847 0.1326 5008 , , NA 16315 0.2014 NA 0.0398 False NA ,,, NA NA NA 2504 0.0368 NA NA NA NA 0 C 249,3935 4,241,1847 17 22 20 36 -8.8 0.1 2 dbSNP_119 20 357,8061 8,341,3860 no coding-synonymous ADRA2B NM_000682.5 12,582,5707 CC,CT,TT 4.2409,5.9512,4.8088 12/448 96781853 606,11996 2092 4209 6301 SO:0001819 synonymous_variant M34041 CCDS56129.1 2q11.1 2014-05-06 2012-05-09 ENSG00000222040 ENSG00000274286 151 GPCR / Class A : Adrenoceptors : alpha 282 protein-coding gene gene with protein product 104260 adrenergic, alpha-2B-, receptor ADRA2L1, ADRA2RL1 NA 2164221 Standard NM_000682 NA Approved ADRARL1 uc021vlh.1 P18089 OTTHUMG00000188276 ENST00000409345.3:c.36A>G chr2.hg19:g.96781853T>C NA Q4TUH9|Q53RF2|Q9BZK0 hg19 CCDS56129.1 0.02 9.303425 CGCxGTG COVERED NOVEL ADRA2B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000334990.1 0 16.247788 KEEP 0 0 0 54 1670 TT 1 1 0 - 16 60 521 0 0 34.82555 206 60 7424 354 ENST00000409345.3 0.072072 1 STARD7 56910 __UNKNOWN__ __UNKNOWN__ 2 96850830 96850830 __UNKNOWN__ 3'UTR SNP T T A rs11164061 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:96850830T>A ENST00000337288.5 - 0 3134 NM_020151.3 NP_064536.2 Q9NQZ5 STAR7_HUMAN StAR-related lipid transfer (START) domain containing 7 NA NA mitochondrion (GO:0005739) lipid binding (GO:0008289) endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2) 14 TATGCACACATCCATCCACAT 0.478 NA T||| 293 0.0585064 0.0015 0.0937 5008 , , NA 21556 0.2093 NA 0.003 False NA ,,, NA NA NA 2504 0.0123 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF270647 CCDS2017.2 2p11.1 2011-09-12 2007-08-16 ENSG00000084090 ENSG00000084090 56910 StAR-related lipid transfer (START) domain containing 18063 protein-coding gene gene with protein product START domain containing 7 NA Standard NM_020151 NA Approved GTT1 uc002svm.4 Q9NQZ5 OTTHUMG00000130457 ENST00000337288.5:c.*1638A>T chr2.hg19:g.96850830T>A NA D3DXG9|Q53T44|Q6GU43|Q969M6 hg19 CCDS2017.2 0.02 15.059333 ACAxCCA COVERED NOVEL STARD7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252848.2 1 20.15898 KEEP 0 0 0 67 2097 TT 1 1 0 - 13 60 476 0 0 29.523717 347 60 12266 531 ENST00000337288.5 0.036111 1 STARD7 56910 __UNKNOWN__ __UNKNOWN__ 2 96851383 96851383 __UNKNOWN__ 3'UTR SNP G G A rs79311298 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:96851383G>A ENST00000337288.5 - 0 2581 NM_020151.3 NP_064536.2 Q9NQZ5 STAR7_HUMAN StAR-related lipid transfer (START) domain containing 7 NA NA mitochondrion (GO:0005739) lipid binding (GO:0008289) endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2) 14 ATTAGTATTTGAGACAAGATT 0.403 NA G||| 293 0.0585064 0.0023 0.0937 5008 , , NA 18024 0.2083 NA 0.003 False NA ,,, NA NA NA 2504 0.0123 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF270647 CCDS2017.2 2p11.1 2011-09-12 2007-08-16 ENSG00000084090 ENSG00000084090 56910 StAR-related lipid transfer (START) domain containing 18063 protein-coding gene gene with protein product START domain containing 7 NA Standard NM_020151 NA Approved GTT1 uc002svm.4 Q9NQZ5 OTTHUMG00000130457 ENST00000337288.5:c.*1085C>T chr2.hg19:g.96851383G>A NA D3DXG9|Q53T44|Q6GU43|Q969M6 hg19 CCDS2017.2 0.02 3.830542 TTTxAGA COVERED NOVEL STARD7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252848.2 0 6.921614 KEEP 0 0 0 23 773 GG 0.999892 0.999892 0 - 5 60 176 0 0 10.593008 137 60 5186 186 ENST00000337288.5 0.035211 1 AC012307.3 0 __UNKNOWN__ __UNKNOWN__ 2 96874590 96874590 __UNKNOWN__ RNA SNP T T C rs6725867 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:96874590T>C ENST00000446816.1 + 0 437 NA NA NA CGCACCCTACTTTTTCTCCGC 0.697 NA C||| 1273 0.254193 0.1543 0.2709 5008 , , NA 13890 0.3532 NA 0.2207 False NA ,,, NA NA NA 2504 0.3098 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000446816.1: chr2.hg19:g.96874590T>C NA hg19 0.02 21.485994 TACxTTT COVERED NOVEL AC012307.3-001 KNOWN basic|exp_conf antisense NA processed_transcript OTTHUMT00000338796.1 3 93.034614 KEEP 0 5 153 363 11441 TT 1 1 0 + 16 60 601 0 0 37.302328 463 60 16947 1108 ENST00000446816.1 0.033403 1 AC012307.3 0 __UNKNOWN__ __UNKNOWN__ 2 96874591 96874591 __UNKNOWN__ RNA SNP T T C rs6725872 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:96874591T>C ENST00000446816.1 + 0 438 NA NA NA GCACCCTACTTTTTCTCCGCC 0.697 NA C||| 1273 0.254193 0.1543 0.2709 5008 , , NA 13747 0.3532 NA 0.2207 False NA ,,, NA NA NA 2504 0.3098 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000446816.1: chr2.hg19:g.96874591T>C NA hg19 0.02 21.838525 ACTxTTT COVERED NOVEL AC012307.3-001 KNOWN basic|exp_conf antisense NA processed_transcript OTTHUMT00000338796.1 3 92.849449 KEEP 0 4 144 359 11078 TT 1 1 0 + 16 60 618 0 0 39.092978 457 60 16404 1098 ENST00000446816.1 0.033827 1 TMEM127 55654 __UNKNOWN__ __UNKNOWN__ 2 96918245 96918245 __UNKNOWN__ 3'UTR SNP A A G rs3770239 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:96918245A>G ENST00000258439.3 - 0 2274 TMEM127_ENST00000432959.1_3'UTR NM_001193304.2|NM_017849.3 NP_001180233.1|NP_060319.1 O75204 TM127_HUMAN transmembrane protein 127 NA NA negative regulation of cell proliferation (GO:0008285)|negative regulation of TOR signaling (GO:0032007) cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1) 5 GCTGAGCAAGAAAGTCCCAGC 0.532 NA A||| 294 0.0587061 0.0015 0.0965 5008 , , NA 19521 0.2083 NA 0.003 False NA ,,, NA NA NA 2504 0.0123 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK000514 CCDS2018.1 2q11.2 2014-09-17 ENSG00000135956 ENSG00000135956 55654 26038 protein-coding gene gene with protein product 613403 NA 10493829 Standard NM_017849 NM_017849 NA Approved FLJ20507, FLJ22257 uc002svr.3 O75204 OTTHUMG00000130454 ENST00000258439.3:c.*1301T>C chr2.hg19:g.96918245A>G NA D3DXH0 hg19 CCDS2018.1 0.02 9.265656 AAGxAAG COVERED NOVEL TMEM127-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252845.3 1 15.925491 KEEP 0 0 0 53 1614 AA 1 1 0 - 7 60 260 0 0 15.962909 207 60 7471 320 ENST00000258439.3 0.03271 1 ANKRD36 375248 __UNKNOWN__ __UNKNOWN__ 2 97808495 97808495 __UNKNOWN__ Intron SNP C C T rs62153045 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:97808495C>T ENST00000461153.2 + 8 1072 ANKRD36_ENST00000420699.2_Intron A6QL64 AN36A_HUMAN ankyrin repeat domain 36 NA NA endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 TCAAATCCCACTCAGGCTACA 0.313 NA NA NA NA NA NA NA NA NA NA NA 0 56 53 54 NA NA 2 NA 97808495 692 1590 2282 SO:0001627 intron_variant BC046186 CCDS54379.1 2q11.2 2013-09-24 ENSG00000135976 ENSG00000135976 375248 Ankyrin repeat domain containing 24079 protein-coding gene gene with protein product NA 12975309 Standard NM_001164315 NA Approved UNQ2430 uc010yva.2 A6QL64 OTTHUMG00000155256 ENST00000461153.2:c.829-5C>T chr2.hg19:g.97808495C>T NA B4E3I8|Q6UX02|Q86X62|Q9HCD1 hg19 CCDS54379.1 0.02 9.343088 CCAxTCA COVERED NOVEL ANKRD36-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000339154.5 1 12.275669 KEEP 2 1 32 52 1886 CC 1 1 0 + 8 48 305 0 0 19.664108 196 60 7430 346 ENST00000461153.2 0.039216 1 ANKRD36 375248 __UNKNOWN__ __UNKNOWN__ 2 97828864 97828864 __UNKNOWN__ Intron SNP C C T rs62153882 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:97828864C>T ENST00000461153.2 + 18 1673 ANKRD36_ENST00000420699.2_Intron A6QL64 AN36A_HUMAN ankyrin repeat domain 36 NA NA endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 gttagccaggcgtggtggcat 0.552 NA .||| 1726 0.344649 0.0877 0.4467 5008 , , NA 16405 0.246 NA 0.7793 False NA ,,, NA NA NA 2504 0.274 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC046186 CCDS54379.1 2q11.2 2013-09-24 ENSG00000135976 ENSG00000135976 375248 Ankyrin repeat domain containing 24079 protein-coding gene gene with protein product NA 12975309 Standard NM_001164315 NA Approved UNQ2430 uc010yva.2 A6QL64 OTTHUMG00000155256 ENST00000461153.2:c.1429+989C>T chr2.hg19:g.97828864C>T NA B4E3I8|Q6UX02|Q86X62|Q9HCD1 hg19 CCDS54379.1 0.02 2.044152 AGGxGTG COVERED NOVEL ANKRD36-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000339154.5 0 3.9126 KEEP 0 0 0 13 442 CC 0.994391 0.986529 0 + 8 60 231 0 0 16.639713 53 60 1886 78 ENST00000461153.2 0.131148 0.992094 ANKRD36 375248 __UNKNOWN__ __UNKNOWN__ 2 97828935 97828935 __UNKNOWN__ Intron SNP C C T rs201360881 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:97828935C>T ENST00000461153.2 + 18 1673 ANKRD36_ENST00000420699.2_Intron A6QL64 AN36A_HUMAN ankyrin repeat domain 36 NA NA endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 acccaggcggcggaggttgct 0.483 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC046186 CCDS54379.1 2q11.2 2013-09-24 ENSG00000135976 ENSG00000135976 375248 Ankyrin repeat domain containing 24079 protein-coding gene gene with protein product NA 12975309 Standard NM_001164315 NA Approved UNQ2430 uc010yva.2 A6QL64 OTTHUMG00000155256 ENST00000461153.2:c.1429+1060C>T chr2.hg19:g.97828935C>T NA B4E3I8|Q6UX02|Q86X62|Q9HCD1 hg19 CCDS54379.1 0.02 2.069673 CGGxGGA COVERED NOVEL ANKRD36-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000339154.5 2 3.312064 KEEP 17 3 79 39 1373 CC 0.999998 0.999405 0 + 11 60 312 0 0 23.131266 62 60 2335 149 ENST00000461153.2 0.150685 0.999407 ANKRD36 375248 __UNKNOWN__ __UNKNOWN__ 2 97830108 97830108 __UNKNOWN__ Intron SNP A A G rs74323232 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:97830108A>G ENST00000461153.2 + 20 1702 ANKRD36_ENST00000420699.2_Intron A6QL64 AN36A_HUMAN ankyrin repeat domain 36 NA NA endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 TGATATGTTAATCATTATGTT 0.348 NA NA NA NA NA NA NA NA NA NA NA 0 50 38 42 NA NA 2 NA 97830108 692 1590 2282 SO:0001627 intron_variant BC046186 CCDS54379.1 2q11.2 2013-09-24 ENSG00000135976 ENSG00000135976 375248 Ankyrin repeat domain containing 24079 protein-coding gene gene with protein product NA 12975309 Standard NM_001164315 NA Approved UNQ2430 uc010yva.2 A6QL64 OTTHUMG00000155256 ENST00000461153.2:c.1459-26A>G chr2.hg19:g.97830108A>G NA B4E3I8|Q6UX02|Q86X62|Q9HCD1 hg19 CCDS54379.1 0.02 13.804349 TTAxTCA COVERED NOVEL ANKRD36-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000339154.5 3 2.479459 KEEP 63 2 74 34 1101 AA 0.999997 0.999997 0 + 9 27 343 0 0 20.814327 309 60 11133 518 ENST00000461153.2 0.028302 1 VWA3B 200403 __UNKNOWN__ __UNKNOWN__ 2 98736225 98736225 __UNKNOWN__ Splice_Site SNP C C T rs2305355 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:98736225C>T ENST00000477737.1 + 4 745 c.541C>T c.(541-543)Cgg>Tgg p.R181W VWA3B_ENST00000451075.2_Intron|VWA3B_ENST00000435344.1_Splice_Site_p.R181W NM_144992.4 NP_659429.4 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 181 NA R -> W (in dbSNP:rs2305355). NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 CAATATCATACGGTGAGTTCC 0.453 NA C||| 645 0.128794 0.2496 0.0548 5008 , , NA 19824 0.1329 NA 0.0656 False NA ,,, NA NA NA 2504 0.0787 NA NA NA NA 0 C TRP/ARG 742,3066 69,604,1231 135 127 130 541 -2.8 1 2 dbSNP_100 130 602,7658 21,560,3549 yes missense-near-splice VWA3B NM_144992.4 101 90,1164,4780 TT,TC,CC 7.2881,19.4853,11.1369 benign 181/1295 98736225 1344,10724 1904 4130 6034 SO:0001630 splice_region_variant AL832761 CCDS42718.1 2q11.2 2008-02-05 ENSG00000168658 ENSG00000168658 200403 28385 protein-coding gene gene with protein product NA 12477932 Standard NM_144992 NM_144992 NA Approved DKFZp686F2227, MGC26733 uc002syo.3 Q502W6 OTTHUMG00000153104 ENST00000477737.1:c.542+1C>T chr2.hg19:g.98736225C>T NA B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02 hg19 CCDS42718.1 0.02 4.013383 ATAxGGT COVERED 266 0.12179487179487179 114 0.23170731707317074 22 0.06077348066298342 81 0.14160839160839161 49 0.06464379947229551 C 15.15 2.749237 0.49257 0.194853 0.072881 ENSG00000168658 ENST00000435344;ENST00000477737 T;T 0.07908 3.15;3.15 6.02 -2.82 0.05787 . 0.999489 0.08098 N 0.998373 T 0.00012 0.0000 N 0.02916 -0.46 0.09310 P 0.9999999736373 B;B 0.24043 0.096;0.078 B;B 0.19148 0.016;0.024 T 0.48790 -0.9004 9 0.30078 T 0.28 . 3.9747 0.09468 0.1147:0.4827:0.1301:0.2726 rs2305355;rs60567239;rs2305355 181;181 Q502W6;Q502W6-8 VWA3B_HUMAN;. W 181 ENSP00000401959:R181W;ENSP00000417955:R181W ENSP00000411168:R181W R + 1 2 VWA3B 98102657 0.721000 0.28007 0.997000 0.53966 0.974000 0.67602 -0.354000 0.07681 -0.105000 0.12132 0.655000 0.94253 CGG NOVEL VWA3B-020 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000353469.2 0 6.018063 KEEP 0 0 0 20 657 CC 0.999863 0.999863 0 Missense_Mutation + 5 60 184 0 0 11.361348 139 60 4716 191 ENST00000477737.1 0.034722 1 INPP4A 3631 __UNKNOWN__ __UNKNOWN__ 2 99162680 99162680 __UNKNOWN__ Intron SNP A A G rs184860576 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:99162680A>G ENST00000409016.4 + 12 1451 INPP4A_ENST00000074304.5_Intron|INPP4A_ENST00000409851.3_Intron|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000409540.3_Intron|INPP4A_ENST00000523221.1_Intron|INPP4A_ENST00000545415.1_Intron Q96PE3 INP4A_HUMAN inositol polyphosphate-4-phosphatase, type I, 107kDa NA NA inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829) phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597) breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4) 43 AGGACCTTCAAAAGGTTTCTG 0.512 NA A||| 19 0.00379393 0.0121 0.0043 5008 , , NA 19414 0.0 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U26398 CCDS46369.1, CCDS46370.1, CCDS46371.1, CCDS46372.1 2q11.2 2008-05-27 2002-08-29 ENSG00000040933 ENSG00000040933 3631 6074 protein-coding gene gene with protein product 600916 inositol polyphosphate-4-phosphatase, type I, 107kD INPP4 NA 7608176, 9295334 Standard NM_001566 NM_004027 NA Approved uc002syy.3 Q96PE3 OTTHUMG00000153106 ENST00000409016.4:c.1054+144A>G chr2.hg19:g.99162680A>G NA O15326|Q13187|Q53TD8|Q8TC02 hg19 CCDS46370.1 0.02 2.082423 TCAxAAG COVERED NOVEL INPP4A-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000329566.2 1 2.70728 KEEP 0 0 0 9 258 AA 0.99254 0.988801 0 + 4 60 152 0 0 10.476918 65 60 2323 80 ENST00000409016.4 0.057971 0.996233 INPP4A 3631 __UNKNOWN__ __UNKNOWN__ 2 99207180 99207180 __UNKNOWN__ 3'UTR SNP A A G rs12988976 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:99207180A>G ENST00000409016.4 + 0 6323 INPP4A_ENST00000074304.5_3'UTR|INPP4A_ENST00000545415.1_3'UTR Q96PE3 INP4A_HUMAN inositol polyphosphate-4-phosphatase, type I, 107kDa NA NA inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829) phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597) breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4) 43 GGCACACACGACCCGTTATCT 0.408 NA A||| 116 0.0231629 0.0068 0.0144 5008 , , NA 19583 0.0228 NA 0.0229 False NA ,,, NA NA NA 2504 0.0521 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U26398 CCDS46369.1, CCDS46370.1, CCDS46371.1, CCDS46372.1 2q11.2 2008-05-27 2002-08-29 ENSG00000040933 ENSG00000040933 3631 6074 protein-coding gene gene with protein product 600916 inositol polyphosphate-4-phosphatase, type I, 107kD INPP4 NA 7608176, 9295334 Standard NM_001566 NM_004027 NA Approved uc002syy.3 Q96PE3 OTTHUMG00000153106 ENST00000409016.4:c.*3109A>G chr2.hg19:g.99207180A>G NA O15326|Q13187|Q53TD8|Q8TC02 hg19 CCDS46370.1 0.02 2.11216 ACGxCCC COVERED NOVEL INPP4A-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000329566.2 2 6.318765 KEEP 0 0 0 21 650 AA 0.999869 0.998737 0 + 4 60 151 0 0 10.204804 72 60 2486 116 ENST00000409016.4 0.052632 0.998867 TSGA10 80705 __UNKNOWN__ __UNKNOWN__ 2 99688127 99688127 __UNKNOWN__ Intron SNP A A G rs75123748 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:99688127A>G ENST00000393483.3 - 14 1952 TSGA10_ENST00000478090.1_Intron|TSGA10_ENST00000539964.1_Intron|TSGA10_ENST00000355053.4_Intron|TSGA10_ENST00000410001.1_Intron NM_025244.2 NP_079520.1 Q9BZW7 TSG10_HUMAN testis specific, 10 NA NA cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283) cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634) NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 34 AGAAATTCATATTTTTTTTTC 0.338 NA A||| 464 0.0926518 0.0991 0.1037 5008 , , NA 17104 0.2113 NA 0.0219 False NA ,,, NA NA NA 2504 0.0266 NA NA NA NA 0 A , 434,3970 28,378,1796 38 40 39 , -9 0 2 dbSNP_132 39 122,8474 2,118,4178 no intron,intron TSGA10 NM_025244.2,NM_182911.3 , 30,496,5974 GG,GA,AA 1.4193,9.8547,4.2769 , , 99688127 556,12444 2202 4298 6500 SO:0001627 intron_variant AF254756 CCDS2037.1 2q11.2 2009-08-06 ENSG00000135951 ENSG00000135951 80705 14927 protein-coding gene gene with protein product cancer/testis antigen 79 607166 NA 11179690 Standard NM_182911 NM_025244 NA Approved CEP4L, CT79 uc002szi.4 Q9BZW7 OTTHUMG00000130637 ENST00000393483.3:c.1107+41T>C chr2.hg19:g.99688127A>G NA B7Z925|D3DVH7|Q8NEP0|Q9BWX0 hg19 CCDS2037.1 0.02 4.513912 CATxTTT COVERED NOVEL TSGA10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253125.1 1 7.821432 KEEP 0 0 0 26 784 AA 0.999957 0.999957 0 - 5 60 195 0 0 12.492983 137 60 4757 182 ENST00000393483.3 0.035211 1 LIPT1 51601 __UNKNOWN__ __UNKNOWN__ 2 99778735 99778735 __UNKNOWN__ Silent SNP A A G rs3791211 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:99778735A>G ENST00000393473.2 + 3 539 c.315A>G c.(313-315)acA>acG p.T105T LIPT1_ENST00000340066.1_Silent_p.T105T|LIPT1_ENST00000393477.3_Silent_p.T105T|MRPL30_ENST00000410042.1_Intron|LIPT1_ENST00000393471.2_Silent_p.T105T|LIPT1_ENST00000393474.3_Silent_p.T105T NM_001204830.1|NM_015929.3 NP_001191759.1|NP_057013.1 Q9Y234 LIPT_HUMAN lipoyltransferase 1 105 BPL/LPL catalytic. {ECO:0000255|PROSITE- ProRule:PRU01067}. NA cellular protein modification process (GO:0006464)|lipid metabolic process (GO:0006629)|protein lipoylation (GO:0009249) mitochondrion (GO:0005739) transferase activity, transferring acyl groups (GO:0016746) large_intestine(6)|lung(1) 7 Lipoic Acid(DB00166) GAGGAGGAACAGTCTACCATG 0.358 NA A||| 490 0.0978435 0.1233 0.1052 5008 , , NA 19041 0.2063 NA 0.0219 False NA ,,, NA NA NA 2504 0.0245 NA NA NA GBM(84;665 1268 21657 25485 30647) NA 0 A ,,,, 582,3824 254.0+/-259.7 50,482,1671 59 56 57 315,315,315,315,315 -8.6 0.1 2 dbSNP_107 57 118,8482 61.7+/-123.6 2,114,4184 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous LIPT1 NM_001204830.1,NM_015929.3,NM_145197.2,NM_145198.2,NM_145199.2 ,,,, 52,596,5855 GG,GA,AA 1.3721,13.2093,5.3821 ,,,, 105/374,105/374,105/374,105/374,105/374 99778735 700,12306 2203 4300 6503 SO:0001819 synonymous_variant AB017566 CCDS2039.1 2q11.2 2010-11-25 ENSG00000144182 ENSG00000144182 51601 2.3.1.181 29569 protein-coding gene gene with protein product 610284 NA 10103005 Standard NM_015929 NM_145197 NA Approved MGC12290, MGC13378 uc002szq.4 Q9Y234 OTTHUMG00000130640 ENST00000393473.2:c.315A>G chr2.hg19:g.99778735A>G NA Q4ZFZ1 hg19 CCDS2039.1 0.02 17.770195 AACxGTC COVERED NOVEL LIPT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253128.1 2 17.150028 KEEP 0 0 0 57 1759 AA 1 1 0 + 20 60 666 0 0 40.471881 439 60 16160 582 ENST00000393473.2 0.043573 1 MRPL30 51263 __UNKNOWN__ __UNKNOWN__ 2 99797598 99797598 __UNKNOWN__ 5'UTR SNP G G A rs2277876 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:99797598G>A ENST00000338148.3 + 0 57 C2orf15_ENST00000512183.2_5'UTR|MRPL30_ENST00000410042.1_Intron NM_145212.3 NP_660213.1 Q8TCC3 RM30_HUMAN mitochondrial ribosomal protein L30 NA NA mitochondrion (GO:0005739)|ribosome (GO:0005840) breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 10 AAATGCCTCAGTTTGGAGGTC 0.552 NA g||| 464 0.0926518 0.1014 0.1023 5008 , , NA 18858 0.2113 NA 0.0219 False NA ,,, NA NA NA 2504 0.0245 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AB051342 CCDS2041.1 2q11.2 2012-09-13 ENSG00000185414 ENSG00000185414 51263 Mitochondrial ribosomal proteins / large subunits 14036 protein-coding gene gene with protein product 611838 NA Standard NM_145212 NA Approved MRP-L28, RPML28 uc002szv.3 Q8TCC3 OTTHUMG00000130642 ENST00000338148.3:c.-142G>A chr2.hg19:g.99797598G>A NA A6NIC6|D3DVI0|D3DVI3|Q0D2Q7|Q6ZTP4|Q96Q69|Q9P0N0 hg19 CCDS2041.1 0.02 1.925236 TCAxTTT COVERED NOVEL MRPL30-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253130.2 0 12.941899 KEEP 0 0 0 43 1505 GG 1 0.999726 0 + 4 60 152 0 0 10.065577 83 60 3049 154 ENST00000338148.3 0.045977 0.999726 EIF5B 9669 __UNKNOWN__ __UNKNOWN__ 2 99978048 99978048 __UNKNOWN__ Silent SNP G G A rs12233086 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:99978048G>A ENST00000289371.6 + 4 886 c.684G>A c.(682-684)gtG>gtA p.V228V NM_015904.3 NP_056988.3 O60841 IF2P_HUMAN eukaryotic translation initiation factor 5B 228 NA cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413) cytosol (GO:0005829) GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743) breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 TTAAGACAGTGGCCCAAAAGA 0.398 NA G||| 848 0.169329 0.1051 0.2839 5008 , , NA 17320 0.25 NA 0.1481 False NA ,,, NA NA NA 2504 0.1135 NA NA NA Colon(162;2388 2567 2705 3444) NA 0 G 460,3224 38,384,1420 53 53 53 684 4 1 2 dbSNP_120 53 1104,7056 81,942,3057 no coding-synonymous EIF5B NM_015904.3 119,1326,4477 AA,AG,GG 13.5294,12.4864,13.205 228/1221 99978048 1564,10280 1842 4080 5922 SO:0001819 synonymous_variant AF078035 CCDS42721.1 2q11.2 2012-09-20 ENSG00000158417 ENSG00000158417 9669 30793 protein-coding gene gene with protein product translation initiation factor IF2 606086 NA 10200264, 10432305 Standard NM_015904 XM_005264075 NA Approved IF2, KIAA0741, DKFZp434I036, FLJ10524 uc002tab.3 O60841 OTTHUMG00000153242 ENST00000289371.6:c.684G>A chr2.hg19:g.99978048G>A NA O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7 hg19 CCDS42721.1 0.02 4.18571 AGTxGCC COVERED NOVEL EIF5B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000330364.2 0 14.446217 KEEP 0 0 0 48 1667 GG 1 1 0 + 6 60 212 1 0 13.193398 141 60 5335 246 ENST00000289371.6 0.040816 1 EIF5B 9669 __UNKNOWN__ __UNKNOWN__ 2 100017545 100017545 __UNKNOWN__ 3'UTR SNP G G A rs3792153 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:100017545G>A ENST00000289371.6 + 0 5533 REV1_ENST00000258428.3_3'UTR|REV1_ENST00000393445.3_3'UTR NM_015904.3 NP_056988.3 O60841 IF2P_HUMAN eukaryotic translation initiation factor 5B NA NA cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413) cytosol (GO:0005829) GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743) breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 ATGCAATACTGACAAATTTGG 0.249 NA G||| 33 0.00658946 0.0 0.0 5008 , , NA 15929 0.0308 NA 0.001 False NA ,,, NA NA NA 2504 0.001 NA NA NA Colon(162;2388 2567 2705 3444) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF078035 CCDS42721.1 2q11.2 2012-09-20 ENSG00000158417 ENSG00000158417 9669 30793 protein-coding gene gene with protein product translation initiation factor IF2 606086 NA 10200264, 10432305 Standard NM_015904 XM_005264075 NA Approved IF2, KIAA0741, DKFZp434I036, FLJ10524 uc002tab.3 O60841 OTTHUMG00000153242 ENST00000289371.6:c.*1668G>A chr2.hg19:g.100017545G>A NA O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7 hg19 CCDS42721.1 0.02 4.014686 ACTxACA COVERED NOVEL EIF5B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000330364.2 0 4.514371 KEEP 0 0 0 15 516 GG 0.99649 0.996489 0 + 6 60 219 0 0 14.398293 115 60 4316 139 ENST00000289371.6 0.049587 0.999999 EIF5B 9669 __UNKNOWN__ __UNKNOWN__ 2 100017609 100017609 __UNKNOWN__ 3'UTR SNP A A G rs189026693 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:100017609A>G ENST00000289371.6 + 0 5597 REV1_ENST00000258428.3_3'UTR|REV1_ENST00000393445.3_3'UTR NM_015904.3 NP_056988.3 O60841 IF2P_HUMAN eukaryotic translation initiation factor 5B NA NA cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413) cytosol (GO:0005829) GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743) breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 ATTTAAAATTATAAAAACTCC 0.308 NA A||| 11 0.00219649 0.0 0.0 5008 , , NA 14700 0.0109 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA Colon(162;2388 2567 2705 3444) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF078035 CCDS42721.1 2q11.2 2012-09-20 ENSG00000158417 ENSG00000158417 9669 30793 protein-coding gene gene with protein product translation initiation factor IF2 606086 NA 10200264, 10432305 Standard NM_015904 XM_005264075 NA Approved IF2, KIAA0741, DKFZp434I036, FLJ10524 uc002tab.3 O60841 OTTHUMG00000153242 ENST00000289371.6:c.*1732A>G chr2.hg19:g.100017609A>G NA O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7 hg19 CCDS42721.1 0.02 9.263162 ATTxTAA COVERED NOVEL EIF5B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000330364.2 2 17.749902 KEEP 0 0 0 59 1811 AA 1 1 0 + 9 60 342 0 0 21.867292 229 60 8245 350 ENST00000289371.6 0.037815 1 AFF3 3899 __UNKNOWN__ __UNKNOWN__ 2 100266225 100266225 __UNKNOWN__ Intron SNP C C A rs76822822 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:100266225C>A ENST00000409236.2 - 11 1256 AFF3_ENST00000409579.1_Intron|AFF3_ENST00000317233.4_Intron|AFF3_ENST00000356421.2_Intron P51826 AFF3_HUMAN AF4/FMR2 family, member 3 NA NA embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) double-stranded DNA binding (GO:0003690) NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 GCATTACACACATTTTTGCCA 0.373 NA C||| 115 0.0229633 0.0 0.0058 5008 , , NA 18558 0.0863 NA 0.0 False NA ,,, NA NA NA 2504 0.0245 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U34360 CCDS33258.1, CCDS42723.1 2q11.2-q12 2008-02-05 2005-06-27 2005-06-27 ENSG00000144218 ENSG00000144218 3899 6473 protein-coding gene gene with protein product 601464 lymphoid nuclear protein related to AF4 LAF4 NA 8662235, 8555498 Standard NM_002285 XM_005263945 NA Approved MLLT2-like uc002taf.3 P51826 OTTHUMG00000153011 ENST00000409236.2:c.1144-97G>T chr2.hg19:g.100266225C>A NA B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5 hg19 CCDS42723.1 0.02 4.375384 ACAxATT COVERED NOVEL AFF3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000328982.3 0 7.825428 KEEP 0 0 0 26 926 CC 0.999957 0.999953 0 - 5 60 180 0 0 11.477738 109 60 4200 161 ENST00000409236.2 0.04386 0.999996 AFF3 3899 __UNKNOWN__ __UNKNOWN__ 2 100454085 100454085 __UNKNOWN__ Intron SNP T T A rs1864273 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:100454085T>A ENST00000409236.2 - 6 986 AFF3_ENST00000409579.1_Intron|AFF3_ENST00000317233.4_Intron|AFF3_ENST00000356421.2_Intron P51826 AFF3_HUMAN AF4/FMR2 family, member 3 NA NA embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) double-stranded DNA binding (GO:0003690) NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 ACAAAAAAATTCAGCGAGTTA 0.488 NA T||| 741 0.147963 0.1225 0.2305 5008 , , NA 18773 0.1776 NA 0.1123 False NA ,,, NA NA NA 2504 0.1299 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U34360 CCDS33258.1, CCDS42723.1 2q11.2-q12 2008-02-05 2005-06-27 2005-06-27 ENSG00000144218 ENSG00000144218 3899 6473 protein-coding gene gene with protein product 601464 lymphoid nuclear protein related to AF4 LAF4 NA 8662235, 8555498 Standard NM_002285 XM_005263945 NA Approved MLLT2-like uc002taf.3 P51826 OTTHUMG00000153011 ENST00000409236.2:c.874-99A>T chr2.hg19:g.100454085T>A NA B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5 hg19 CCDS42723.1 0.02 6.265202 AATxCAG COVERED NOVEL AFF3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000328982.3 1 9.463639 KEEP 0 1 30 42 1384 TT 1 1 0 - 7 60 261 0 0 16.754854 164 70 5823 259 ENST00000409236.2 0.040936 1 RFX8 731220 __UNKNOWN__ __UNKNOWN__ 2 102083393 102083393 __UNKNOWN__ Intron SNP T T C rs11680478 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:102083393T>C ENST00000428343.1 - 2 68 RFX8_ENST00000376826.2_Intron NM_001145664.1 NP_001139136 Q6ZV50 RFX8_HUMAN RFX family member 8, lacking RFX DNA binding domain NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677) endometrium(1)|kidney(1)|stomach(1) 3 GAGGAGGAAATTGGCATTTGT 0.403 NA T||| 1222 0.24401 0.0946 0.4957 5008 , , NA 20808 0.1994 NA 0.2803 False NA ,,, NA NA NA 2504 0.2761 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK124976 CCDS46376.1 2q11.2 2012-11-15 2012-11-15 ENSG00000196460 ENSG00000196460 731220 37253 protein-coding gene gene with protein product regulatory factor X, 8, RFX gene family member 8, lacking RFX DNA binding domain NA Standard NM_001145664 NM_001145664 NA Approved FLJ42986 uc010yvx.1 Q6ZV50 OTTHUMG00000130693 ENST00000428343.1:c.52-31A>G chr2.hg19:g.102083393T>C NA B4DQ32 hg19 CCDS46376.1 0.02 14.108421 AAAxTGG COVERED NOVEL RFX8-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000339800.2 1 20.765662 KEEP 0 0 0 69 2304 TT 1 1 0 - 10 60 387 0 0 23.849736 333 60 11939 512 ENST00000428343.1 0.029155 1 IL1R2 7850 __UNKNOWN__ __UNKNOWN__ 2 102641201 102641201 __UNKNOWN__ Intron SNP A A G rs3218977 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:102641201A>G ENST00000332549.3 + 7 1116 IL1R2_ENST00000485335.1_Intron|IL1R2_ENST00000393414.2_Intron|IL1R2_ENST00000441002.1_3'UTR NM_004633.3 NP_004624.1 P27930 IL1R2_HUMAN interleukin 1 receptor, type II NA NA cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955) extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910) breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1) 28 AGTTATCACTATGACCCACAT 0.418 NA A||| 964 0.192492 0.1316 0.1556 5008 , , NA 18051 0.248 NA 0.1511 False NA ,,, NA NA NA 2504 0.2863 NA NA NA Pancreas(106;189 1628 2302 5133 12295) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X59770 CCDS2054.1, CCDS58719.1 2q12 2013-01-11 ENSG00000115590 ENSG00000115590 7850 Interleukins and interleukin receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 5994 protein-coding gene gene with protein product 147811 IL1RB NA 10191101, 1833184 Standard NM_004633 NM_004633 NA Approved CD121b uc002tbm.3 P27930 OTTHUMG00000130695 ENST00000332549.3:c.887+71A>G chr2.hg19:g.102641201A>G NA D3DVJ5|Q6LCE6|Q9UE68 hg19 CCDS2054.1 0.02 18.496073 ACTxTGA COVERED NOVEL IL1R2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253191.1 1 49.044724 KEEP 0 0 0 163 5082 AA 1 1 0 + 15 60 555 0 0 34.738928 396 60 14516 747 ENST00000332549.3 0.036496 1 IL1R1 3554 __UNKNOWN__ __UNKNOWN__ 2 102794603 102794603 __UNKNOWN__ 3'UTR SNP A A G rs3732131 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:102794603A>G ENST00000410023.1 + 0 3412 IL1R1_ENST00000409589.1_3'UTR|AC007271.3_ENST00000428188.1_RNA|IL1R1_ENST00000233946.3_3'UTR P14778 IL1R1_HUMAN interleukin 1 receptor, type I NA NA cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|interleukin-1-mediated signaling pathway (GO:0070498)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555) cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886) interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)|platelet-derived growth factor receptor binding (GO:0005161)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888) breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3) 19 Anakinra(DB00026) CTAGCTGATCAGAATTTTACC 0.537 NA A||| 912 0.182109 0.1997 0.3588 5008 , , NA 18924 0.2331 NA 0.0765 False NA ,,, NA NA NA 2504 0.089 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M27492 CCDS2055.1, CCDS74547.1 2q12 2013-01-29 ENSG00000115594 ENSG00000115594 3554 Interleukins and interleukin receptors, CD molecules, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 5993 protein-coding gene gene with protein product 147810 IL1R, IL1RA NA 1833184, 10191101 Standard XM_005263929 NA Approved D2S1473, CD121A uc002tbr.3 P14778 OTTHUMG00000130783 ENST00000410023.1:c.*1384A>G chr2.hg19:g.102794603A>G NA Q587I7 hg19 CCDS2055.1 0.02 6.875257 ATCxGAA COVERED NOVEL IL1R1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253299.1 1 16.850311 KEEP 0 0 0 56 1763 AA 1 1 0 + 6 60 220 0 0 13.430759 175 60 6481 288 ENST00000410023.1 0.033149 1 MFSD9 84804 __UNKNOWN__ __UNKNOWN__ 2 103334969 103334969 __UNKNOWN__ Silent SNP G G A rs1052431 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:103334969G>A ENST00000258436.5 - 6 1378 c.1335C>T c.(1333-1335)ggC>ggT p.G445G NM_032718.3 NP_116107.3 Q8NBP5 MFSD9_HUMAN major facilitator superfamily domain containing 9 445 NA transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) transporter activity (GO:0005215) breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1) 20 CTAACACAGCGCCCAGGCTGG 0.552 NA G||| 2056 0.410543 0.295 0.3271 5008 , , NA 18498 0.5714 NA 0.3539 False NA ,,, NA NA NA 2504 0.5184 NA NA NA NA 0 G 1245,3161 396.7+/-330.2 184,877,1142 40 45 43 1335 -7.6 0 2 dbSNP_86 43 2752,5846 404.9+/-348.3 437,1878,1984 no coding-synonymous MFSD9 NM_032718.3 621,2755,3126 AA,AG,GG 32.0074,28.2569,30.7367 445/475 103334969 3997,9007 2203 4299 6502 SO:0001819 synonymous_variant CCDS2063.1 2q12.1 2007-01-12 ENSG00000135953 ENSG00000135953 84804 28158 protein-coding gene gene with protein product NA Standard NM_032718 NM_032718 NA Approved MGC11332 uc002tcb.2 Q8NBP5 OTTHUMG00000130781 ENST00000258436.5:c.1335C>T chr2.hg19:g.103334969G>A NA Q4ZG89|Q53TU0|Q96GQ4|Q9BRI8 hg19 CCDS2063.1 0.02 16.069929 AGCxCCC COVERED NOVEL MFSD9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253295.2 1 23.476555 KEEP 0 0 0 78 2771 GG 1 1 0 - 16 60 531 0 0 31.023018 433 60 15600 660 ENST00000258436.5 0.035635 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 104995800 104995800 __UNKNOWN__ IGR SNP C C T rs4851692 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:104995800C>T NA NA AC096554.1 (232113 upstream) : AC068535.2 (31858 downstream) NA NA NA GTGACCCATACCTGATGTCTC 0.443 NA T||| 1914 0.382188 0.7458 0.2709 5008 , , NA 20717 0.3909 NA 0.164 False NA ,,, NA NA NA 2504 0.1851 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.104995800C>T NA hg19 0.02 15.571904 ATAxCTG COVERED NOVEL 0 5 3.079394 KEEP 0 2 62 32 1141 CC 0.999998 0.999998 0 15 60 559 0 0 35.812487 355 60 12936 474 0.040541 1 TGFBRAP1 9392 __UNKNOWN__ __UNKNOWN__ 2 105882601 105882601 __UNKNOWN__ 3'UTR SNP C C T rs2241796 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:105882601C>T ENST00000393359.2 - 0 4248 Q8WUH2 TGFA1_HUMAN transforming growth factor, beta receptor associated protein 1 NA NA intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192) cytoplasm (GO:0005737)|membrane (GO:0016020) SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160) central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 31 AAGGAATCCCCGGCCTGTGAT 0.502 NA c||| 1412 0.281949 0.2572 0.2147 5008 , , NA 20361 0.5248 NA 0.1312 False NA ,,, NA NA NA 2504 0.2679 NA NA NA Esophageal Squamous(183;794 2019 9730 21801 48859) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF022795 CCDS2067.1 2q12.1 2008-02-05 ENSG00000135966 ENSG00000135966 9392 16836 protein-coding gene gene with protein product 606237 NA 9545258, 11278302 Standard NM_004257 NM_001142621 NA Approved TRAP-1, TRAP1 uc002tcr.4 Q8WUH2 OTTHUMG00000130809 ENST00000393359.2:c.*1239G>A chr2.hg19:g.105882601C>T NA A8K5R7|D3DVJ8|O60466 hg19 CCDS2067.1 0.02 11.622152 CCCxGGC COVERED NOVEL TGFBRAP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253354.2 3 12.639791 KEEP 0 0 0 42 1414 CC 1 1 0 - 12 60 450 0 0 29.533154 252 60 8831 372 ENST00000393359.2 0.045455 1 TGFBRAP1 9392 __UNKNOWN__ __UNKNOWN__ 2 105882683 105882683 __UNKNOWN__ 3'UTR SNP C C T rs1866039 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:105882683C>T ENST00000393359.2 - 0 4166 Q8WUH2 TGFA1_HUMAN transforming growth factor, beta receptor associated protein 1 NA NA intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192) cytoplasm (GO:0005737)|membrane (GO:0016020) SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160) central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 31 GGTGACACAGCCTGTCTGGAT 0.597 NA C||| 1401 0.279752 0.2496 0.2147 5008 , , NA 17851 0.5248 NA 0.1302 False NA ,,, NA NA NA 2504 0.2679 NA NA NA Esophageal Squamous(183;794 2019 9730 21801 48859) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF022795 CCDS2067.1 2q12.1 2008-02-05 ENSG00000135966 ENSG00000135966 9392 16836 protein-coding gene gene with protein product 606237 NA 9545258, 11278302 Standard NM_004257 NM_001142621 NA Approved TRAP-1, TRAP1 uc002tcr.4 Q8WUH2 OTTHUMG00000130809 ENST00000393359.2:c.*1157G>A chr2.hg19:g.105882683C>T NA A8K5R7|D3DVJ8|O60466 hg19 CCDS2067.1 0.02 10.615777 CAGxCTG COVERED NOVEL TGFBRAP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253354.2 1 12.640647 KEEP 0 0 0 42 1477 CC 1 1 0 - 14 60 472 0 0 30.34562 251 60 9242 376 ENST00000393359.2 0.05283 1 TGFBRAP1 9392 __UNKNOWN__ __UNKNOWN__ 2 105882761 105882761 __UNKNOWN__ 3'UTR SNP G G A rs1866040 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:105882761G>A ENST00000393359.2 - 0 4088 Q8WUH2 TGFA1_HUMAN transforming growth factor, beta receptor associated protein 1 NA NA intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192) cytoplasm (GO:0005737)|membrane (GO:0016020) SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160) central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 31 TCCACCCGCTGTCGGTCCTGC 0.577 NA G||| 2200 0.439297 0.4955 0.3213 5008 , , NA 17659 0.6895 NA 0.2783 False NA ,,, NA NA NA 2504 0.3548 NA NA NA Esophageal Squamous(183;794 2019 9730 21801 48859) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF022795 CCDS2067.1 2q12.1 2008-02-05 ENSG00000135966 ENSG00000135966 9392 16836 protein-coding gene gene with protein product 606237 NA 9545258, 11278302 Standard NM_004257 NM_001142621 NA Approved TRAP-1, TRAP1 uc002tcr.4 Q8WUH2 OTTHUMG00000130809 ENST00000393359.2:c.*1079C>T chr2.hg19:g.105882761G>A NA A8K5R7|D3DVJ8|O60466 hg19 CCDS2067.1 0.02 6.102666 GCTxTCG COVERED NOVEL TGFBRAP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253354.2 2 9.631342 KEEP 0 0 0 32 1133 GG 0.999997 0.999997 0 - 7 60 241 0 0 14.63438 171 60 6270 236 ENST00000393359.2 0.039326 1 TGFBRAP1 9392 __UNKNOWN__ __UNKNOWN__ 2 105915128 105915128 __UNKNOWN__ Silent SNP G G A rs12476720 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:105915128G>A ENST00000393359.2 - 3 1149 c.723C>T c.(721-723)cgC>cgT p.R241R TGFBRAP1_ENST00000258449.1_Silent_p.R241R Q8WUH2 TGFA1_HUMAN transforming growth factor, beta receptor associated protein 1 241 CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}. NA intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192) cytoplasm (GO:0005737)|membrane (GO:0016020) SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160) p.R241R(1) central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 31 GCACGGGGGCGCGCTGGGATA 0.507 NA G||| 1489 0.297324 0.3147 0.2277 5008 , , NA 17354 0.5347 NA 0.1352 False NA ,,, NA NA NA 2504 0.2454 NA NA NA Esophageal Squamous(183;794 2019 9730 21801 48859) NA 1 Substitution - coding silent(1) stomach(1) G , 1323,3083 444.1+/-347.2 208,907,1088 51 49 49 723,723 -11.6 0.1 2 dbSNP_120 49 1171,7429 239.2+/-270.4 79,1013,3208 no coding-synonymous,coding-synonymous TGFBRAP1 NM_001142621.1,NM_004257.4 , 287,1920,4296 AA,AG,GG 13.6163,30.0272,19.1758 , 241/861,241/861 105915128 2494,10512 2203 4300 6503 SO:0001819 synonymous_variant AF022795 CCDS2067.1 2q12.1 2008-02-05 ENSG00000135966 ENSG00000135966 9392 16836 protein-coding gene gene with protein product 606237 NA 9545258, 11278302 Standard NM_004257 NM_001142621 NA Approved TRAP-1, TRAP1 uc002tcr.4 Q8WUH2 OTTHUMG00000130809 ENST00000393359.2:c.723C>T chr2.hg19:g.105915128G>A NA A8K5R7|D3DVJ8|O60466 hg19 CCDS2067.1 0.02 3.897434 GGCxCGC COVERED NOVEL TGFBRAP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253354.2 1 3.920392 KEEP 0 1 28 23 777 GG 0.999909 0.999909 0 - 6 60 211 0 0 13.555958 117 60 4279 159 ENST00000393359.2 0.04878 0.999999 FHL2 2274 __UNKNOWN__ __UNKNOWN__ 2 105976711 105976711 __UNKNOWN__ 3'UTR SNP A A G rs12476475 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:105976711A>G ENST00000409177.1 - 0 2338 Q14192 FHL2_HUMAN four and a half LIM domains 2 NA NA androgen receptor signaling pathway (GO:0030521)|atrial cardiac muscle cell development (GO:0055014)|cellular lipid metabolic process (GO:0044255)|heart trabecula formation (GO:0060347)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle cell development (GO:0055015) actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|M band (GO:0031430)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Z disc (GO:0030018) androgen receptor binding (GO:0050681)|identical protein binding (GO:0042802)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 9 gtgagctgagattgtgccatt 0.527 NA A||| 1008 0.201278 0.1702 0.196 5008 , , NA 12691 0.3879 NA 0.0934 False NA ,,, NA NA NA 2504 0.1656 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS2070.1 2q12.2 2014-09-17 ENSG00000115641 ENSG00000115641 2274 3703 protein-coding gene gene with protein product 602633 NA 8753811 Standard NM_201557 NA Approved SLIM3, DRAL uc002tcy.3 Q14192 OTTHUMG00000153120 ENST00000409177.1:c.*1029T>C chr2.hg19:g.105976711A>G NA Q13229|Q13644|Q2I5I4|Q5TM15|Q9P294 hg19 0.02 1.76341 GAGxTTG COVERED NOVEL FHL2-006 PUTATIVE alternative_5_UTR|downstream_ATG|basic protein_coding NA protein_coding OTTHUMT00000329659.2 3 23.470089 KEEP 0 0 0 78 2475 AA 1 0.999907 0 - 5 60 178 0 0 11.705824 89 70 3123 184 ENST00000409177.1 0.053191 0.999907 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 106962172 106962172 __UNKNOWN__ IGR SNP C C T rs544201279 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:106962172C>T NA NA UXS1 (151377 upstream) : PLGLA (40596 downstream) NA NA NA tgagccactgcgccctgccCC 0.547 NA c||| 5 0.000998403 0.0 0.0 5008 , , NA 16965 0.005 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.106962172C>T NA hg19 0.02 2.182885 CTGxGCC COVERED NOVEL 0 4 8.126154 KEEP 0 0 0 27 955 CC 0.999988 0.99622 0 4 60 148 0 0 10.079302 65 60 2298 129 0.057971 0.996233 PLGLA 285189 __UNKNOWN__ __UNKNOWN__ 2 107007467 107007467 __UNKNOWN__ RNA SNP G G A rs7575679 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:107007467G>A ENST00000484422.1 + 0 316 Q15195 PLGA_HUMAN plasminogen-like A (pseudogene) NA NA extracellular region (GO:0005576) NA ACTTCTCCCCGCAGACCTAGG 0.468 NA .||| 1467 0.292931 0.0772 0.3213 5008 , , NA 21059 0.7312 NA 0.1183 False NA ,,, NA NA NA 2504 0.2924 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA U67178, M86872, M86873 2q12.2 2013-03-28 2013-03-28 2008-02-07 ENSG00000240935 ENSG00000240935 285189 9074 pseudogene pseudogene 612212 plasminogen pseudogene 2, plasminogen-like A1, plasminogen-like A PLGP2, PLGLA1 NA 1986355 Standard NR_003506.2 NR_003506 NA Approved uc002tdp.4 Q15195 OTTHUMG00000153188 ENST00000484422.1: chr2.hg19:g.107007467G>A NA hg19 0.02 23.026889 CCCxCAG COVERED NOVEL PLGLA-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000331219.1 2 13.212404 KEEP 56 2 63 66 2310 GG 1 1 0 + 20 40 720 0 0 43.865846 555 60 19582 857 ENST00000484422.1 0.034783 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 107084845 107084845 __UNKNOWN__ IGR SNP G G C rs11893526 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:107084845G>C NA NA RGPD3 (13 upstream) : AC108868.1 (14882 downstream) NA NA NA CTGAGGCAGCGGCGTAGCCGG 0.647 NA .||| 1344 0.268371 0.1263 0.1988 5008 , , NA 13168 0.6895 NA 0.0974 False NA ,,, NA NA NA 2504 0.2515 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.107084845G>C NA hg19 0.02 4.622513 AGCxGCG COVERED NOVEL 0 0 12.339709 KEEP 0 0 0 41 1429 GG 1 0.999999 0 10 60 352 0 0 25.029117 110 60 3917 211 0.083333 0.999999 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 107123924 107123924 __UNKNOWN__ IGR SNP C C G rs11896902 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:107123924C>G NA NA CD8BP (3143 upstream) : AC108868.5 (14434 downstream) NA NA NA ATGTCAGTCTCTGAGGGCTTC 0.552 NA .||| 1126 0.22484 0.0295 0.1671 5008 , , NA 15987 0.6895 NA 0.0437 False NA ,,, NA NA NA 2504 0.2372 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.107123924C>G NA hg19 0.02 17.453496 TCTxTGA COVERED NOVEL 0 1 11.574372 KEEP 0 1 36 51 1844 CC 1 1 0 18 60 688 0 0 46.360146 342 60 13032 496 0.05 1 RGPD4 285190 __UNKNOWN__ __UNKNOWN__ 2 108462300 108462300 __UNKNOWN__ Intron SNP G G A rs376834737 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:108462300G>A ENST00000408999.3 + 6 859 RGPD4_ENST00000354986.4_Intron NM_182588.2 NP_872394.2 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 NA NA protein targeting to Golgi (GO:0000042) breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 gattacaggcgtgagccaccg 0.498 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BX537861 CCDS46381.1 2q12.3 2013-01-10 ENSG00000196862 ENSG00000196862 285190 Tetratricopeptide (TTC) repeat domain containing 32417 protein-coding gene gene with protein product 612707 NA 15710750, 15815621 Standard XM_496581 NM_182588 NA Approved RGP4, DKFZp686P0288 uc010ywk.2 Q7Z3J3 OTTHUMG00000153208 ENST00000408999.3:c.782+2114G>A chr2.hg19:g.108462300G>A NA B9A029 hg19 CCDS46381.1 0.02 -0.026319 GGCxTGA UNCOVERED NOVEL RGPD4-001 NOVEL not_best_in_genome_evidence|basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000330096.2 2 2.407501 KEEP 6 0 0 8 269 GG 0 0 0 + 2 30 69 0 0 7.024724 1 50 37 15 ENST00000408999.3 0.666667 0 SULT1C2 6819 __UNKNOWN__ __UNKNOWN__ 2 108915136 108915136 __UNKNOWN__ Intron SNP T T C rs7590599|rs78141152 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:108915136T>C ENST00000437390.2 + 4 454 SULT1C2_ENST00000326853.5_Intron|SULT1C2_ENST00000251481.6_Intron|SULT1C2_ENST00000409880.1_Intron O75897 ST1C4_HUMAN sulfotransferase family, cytosolic, 1C, member 2 NA NA 3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805) cytosol (GO:0005829) sulfotransferase activity (GO:0008146) NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 20 ctgcccctggtcttctttgca 0.443 NA T||| 3761 0.750998 0.8707 0.7882 5008 , , NA 18027 0.8085 NA 0.6571 False NA ,,, NA NA NA 2504 0.6002 NA NA NA NA 0 1 1 1 NA NA 2 NA 108915136 104 94 198 SO:0001627 intron_variant U66036, AF186255 CCDS2075.1, CCDS2076.1 2q12.3 2010-09-30 2007-03-16 2007-03-16 ENSG00000198203 ENSG00000198203 6819 Sulfotransferases, cytosolic 11456 protein-coding gene gene with protein product 602385 sulfotransferase family, cytosolic, 1C, member 1 SULT1C1 NA 9169148, 10783263 Standard NM_176825 NM_001056 NA Approved ST1C1 uc002tdx.3 O00338 OTTHUMG00000153215 ENST00000437390.2:c.278-2116T>C chr2.hg19:g.108915136T>C NA Q069I8|Q08AS5|Q53S63 hg19 0.02 2.387407 TGGxCTT COVERED NOVEL SULT1C2-007 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000329969.2 2 5.717768 KEEP 0 0 0 19 620 TT 0.99986 0.981818 0 + 4 60 146 0 0 10.220401 53 60 1864 99 ENST00000437390.2 0.070175 0.981955 EDAR 10913 __UNKNOWN__ __UNKNOWN__ 2 109513601 109513601 __UNKNOWN__ Missense_Mutation SNP A A G rs3827760 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:109513601A>G ENST00000258443.2 - 12 1539 c.1109T>C c.(1108-1110)gTt>gCt p.V370A EDAR_ENST00000409271.1_Missense_Mutation_p.V402A|EDAR_ENST00000376651.1_Missense_Mutation_p.V402A NM_022336.3 NP_071731.1 Q9UNE0 EDAR_HUMAN ectodysplasin A receptor 370 Death. NA V -> A (associated with increase in hair thickness; results in decreased downstream activity of NFKB1 48 hours after transfection into cells; dbSNP:rs3827760). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:18065779}. apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|epidermis development (GO:0008544)|hair follicle development (GO:0001942)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|salivary gland cavitation (GO:0060662) apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888) NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 16 CGTTTTCACAACAGCCTTCTC 0.562 NA A||| 1180 0.235623 0.003 0.3919 5008 , , NA 15669 0.873 NA 0.0109 False NA ,,, NA NA NA 2504 0.0133 NA NA NA NA 0 GRCh37 CM081233 EDAR M rs3827760 A ALA/VAL 59,4347 55.5+/-91.7 1,57,2145 92 80 84 http://www.ncbi.nlm.nih.gov/sites/varvu?gene 1109 5.6 0 2 dbSNP_107 84 76,8524 45.4+/-104.0 0,76,4224 yes missense EDAR NM_022336.3 64 1,133,6369 GG,GA,AA 0.8837,1.3391,1.038 benign 370/449 109513601 135,12871 2203 4300 6503 SO:0001583 missense AF130988 CCDS2081.1 2q13 2013-05-22 2004-08-09 ENSG00000135960 ENSG00000135960 10913 Tumor necrosis factor receptor superfamily 2895 protein-coding gene gene with protein product 604095 ectodysplasin 1, anhidrotic receptor ED3, DL NA 10431241, 9375732 Standard NM_022336 NA Approved ED5, EDA3, Edar, ED1R, EDA1R uc002teq.4 Q9UNE0 OTTHUMG00000130982 ENST00000258443.2:c.1109T>C chr2.hg19:g.109513601A>G ENSP00000258443:p.Val370Ala NA B2R9H2|B4DLC5|D3DX74|E9PC98|Q52LL5|Q9UND9 hg19 CCDS2081.1 0.02 13.668259 ACAxCAG COVERED 633 0.28983516483516486 3 0.006097560975609756 117 0.32320441988950277 502 0.8776223776223776 11 0.014511873350923483 A 16.90 3.249210 0.59103 0.013391 0.008837 ENSG00000135960 ENST00000409271;ENST00000258443;ENST00000376651 D;D;D 0.85484 -1.99;-1.99;-1.99 5.64 5.64 0.86602 Death (1);DEATH-like (2); 0.232705 0.41294 D 0.000901 T 0.00012 0.0000 N 0.19112 0.55 0.33796 P 0.373965 B;P 0.39044 0.429;0.656 B;B 0.38683 0.187;0.279 T 0.39961 -0.9588 9 0.87932 D 0 -14.1018 15.8747 0.79154 1.0:0.0:0.0:0.0 rs3827760;rs52811957;rs60688169;rs3827760 402;370 E9PC98;Q9UNE0 .;EDAR_HUMAN A 402;370;402 ENSP00000386371:V402A;ENSP00000258443:V370A;ENSP00000365839:V402A ENSP00000258443:V370A V - 2 0 EDAR 108880033 0.992000 0.36948 0.019000 0.16419 0.268000 0.26511 8.962000 0.93254 2.142000 0.66516 0.528000 0.53228 GTT NOVEL EDAR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253595.1 3 19.249934 KEEP 0 0 0 64 1903 AA 1 1 0 - 13 60 479 0 0 30.815478 290 60 10398 450 ENST00000258443.2 0.042904 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 110261696 110261696 __UNKNOWN__ IGR SNP C C T rs11680126 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:110261696C>T NA NA SH3RF3 (2448 upstream) : SEPT10 (38862 downstream) NA NA NA TGATGTAGCTCGCAGAGAAGA 0.483 NA T||| 1900 0.379393 0.6952 0.2622 5008 , , NA 20166 0.3899 NA 0.1789 False NA ,,, NA NA NA 2504 0.2311 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.110261696C>T NA hg19 0.02 4.241979 GCTxGCA COVERED NOVEL 0 1 4.814094 KEEP 0 0 0 16 516 CC 0.997832 0.99783 0 6 60 210 0 0 13.575528 112 60 3901 152 0.050847 0.999998 SEPT10 151011 __UNKNOWN__ __UNKNOWN__ 2 110371692 110371692 __UNKNOWN__ 5'UTR SNP C C A rs7579996 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:110371692C>A ENST00000356688.4 - 0 28 SEPT10_ENST00000397712.2_5'UTR Q9P0V9 SEP10_HUMAN septin 10 NA NA cell cycle (GO:0007049)|cell division (GO:0051301) septin complex (GO:0031105) GTP binding (GO:0005525) breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1) 18 TTGGGGCGGGCTGAAGGAGAG 0.687 NA C||| 1406 0.280751 0.0976 0.4496 5008 , , NA 9030 0.3938 NA 0.2555 False NA ,,, NA NA NA 2504 0.318 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF146760 CCDS42726.1, CCDS46383.1 2q13 2013-01-21 ENSG00000186522 ENSG00000186522 151011 Septins 14349 protein-coding gene gene with protein product sept1-like 611737 NA 12711328 Standard NM_144710 NM_144710 NA Approved FLJ11619 uc002tew.4 Q9P0V9 OTTHUMG00000154957 ENST00000356688.4:c.-288G>T chr2.hg19:g.110371692C>A NA B3KRQ9|Q86VP5|Q9HAH6 hg19 0.02 6.712671 GGGxTGA COVERED NOVEL SEPT10-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000337805.1 2 35.858534 KEEP 0 3 90 151 5431 CC 1 1 0 - 7 60 239 0 0 14.89855 147 60 5403 407 ENST00000356688.4 0.045455 1 SOWAHC 65124 __UNKNOWN__ __UNKNOWN__ 2 110373197 110373197 __UNKNOWN__ Silent SNP G G A rs1560884 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:110373197G>A ENST00000356454.3 + 1 1287 c.1131G>A c.(1129-1131)aaG>aaA p.K377K NM_023016.3 NP_075392.2 Q53LP3 SWAHC_HUMAN sosondowah ankyrin repeat domain family member C 377 NA NA GTGGGAAAAAGGCCTCCCAGT 0.657 NA G||| 1623 0.324081 0.2526 0.4697 5008 , , NA 16294 0.3929 NA 0.2575 False NA ,,, NA NA NA 2504 0.3149 NA NA NA NA 0 G 1206,3200 388.6+/-327.0 156,894,1153 48 55 53 1131 1.6 0.1 2 dbSNP_88 53 2121,6479 341.3+/-324.0 258,1605,2437 no coding-synonymous ANKRD57 NM_023016.3 414,2499,3590 AA,AG,GG 24.6628,27.3718,25.5805 377/526 110373197 3327,9679 2203 4300 6503 SO:0001819 synonymous_variant AK023346 CCDS33270.1 2q13 2013-01-10 2012-01-12 2012-01-12 ENSG00000198142 ENSG00000198142 65124 Ankyrin repeat domain containing 26149 protein-coding gene gene with protein product ankyrin repeat domain 57 C2orf26, ANKRD57 NA 22234889 Standard NM_023016 NM_023016 NA Approved FLJ21870 uc002tfb.3 Q53LP3 OTTHUMG00000153219 ENST00000356454.3:c.1131G>A chr2.hg19:g.110373197G>A NA Q8NE15|Q9H6U1 hg19 CCDS33270.1 0.02 10.543268 AAAxGCC COVERED NOVEL SOWAHC-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000330168.1 2 31.97245 KEEP 0 5 144 157 5469 GG 1 1 0 + 9 60 308 1 0 18.103257 253 60 9233 498 ENST00000356454.3 0.034351 1 SOWAHC 65124 __UNKNOWN__ __UNKNOWN__ 2 110374215 110374215 __UNKNOWN__ 3'UTR SNP T T C rs386649134|rs6726252 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:110374215T>C ENST00000356454.3 + 0 2305 NM_023016.3 NP_075392.2 Q53LP3 SWAHC_HUMAN sosondowah ankyrin repeat domain family member C NA NA NA AATGGGAATCTTCTTGGTATT 0.269 NA C||| 2367 0.472644 0.5696 0.5447 5008 , , NA 17575 0.4474 NA 0.3926 False NA ,,, NA NA NA 2504 0.3988 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK023346 CCDS33270.1 2q13 2013-01-10 2012-01-12 2012-01-12 ENSG00000198142 ENSG00000198142 65124 Ankyrin repeat domain containing 26149 protein-coding gene gene with protein product ankyrin repeat domain 57 C2orf26, ANKRD57 NA 22234889 Standard NM_023016 NM_023016 NA Approved FLJ21870 uc002tfb.3 Q53LP3 OTTHUMG00000153219 ENST00000356454.3:c.*571T>C chr2.hg19:g.110374215T>C NA Q8NE15|Q9H6U1 hg19 CCDS33270.1 0.02 6.56095 ATCxTCT COVERED NOVEL SOWAHC-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000330168.1 2 12.470415 KEEP 0 1 39 55 1719 TT 1 1 0 + 6 60 225 0 0 13.744957 188 60 6925 285 ENST00000356454.3 0.030928 1 SOWAHC 65124 __UNKNOWN__ __UNKNOWN__ 2 110376019 110376019 __UNKNOWN__ 3'UTR SNP A A G rs1046645 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:110376019A>G ENST00000356454.3 + 0 4109 NM_023016.3 NP_075392.2 Q53LP3 SWAHC_HUMAN sosondowah ankyrin repeat domain family member C NA NA NA TCAATATGTCATTTACCATGG 0.328 NA A||| 809 0.161542 0.0575 0.147 5008 , , NA 17907 0.1508 NA 0.2425 False NA ,,, NA NA NA 2504 0.2403 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK023346 CCDS33270.1 2q13 2013-01-10 2012-01-12 2012-01-12 ENSG00000198142 ENSG00000198142 65124 Ankyrin repeat domain containing 26149 protein-coding gene gene with protein product ankyrin repeat domain 57 C2orf26, ANKRD57 NA 22234889 Standard NM_023016 NM_023016 NA Approved FLJ21870 uc002tfb.3 Q53LP3 OTTHUMG00000153219 ENST00000356454.3:c.*2375A>G chr2.hg19:g.110376019A>G NA Q8NE15|Q9H6U1 hg19 CCDS33270.1 0.02 1.982627 GTCxTTT COVERED NOVEL SOWAHC-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000330168.1 0 3.911237 KEEP 0 0 0 13 390 AA 0.994391 0.990645 0 + 5 60 173 0 0 11.898906 64 60 2369 85 ENST00000356454.3 0.072464 0.996233 MERTK 10461 __UNKNOWN__ __UNKNOWN__ 2 112753020 112753020 __UNKNOWN__ Intron SNP A A G rs77702371 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:112753020A>G ENST00000295408.4 + 9 1707 MERTK_ENST00000409780.1_Intron|MERTK_ENST00000421804.2_Intron Q12866 MERTK_HUMAN MER proto-oncogene, tyrosine kinase NA NA apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068) cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028) ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714) breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10) 46 GTTTTTGCCAAACATGACCTT 0.428 NA A||| 1036 0.206869 0.0968 0.3069 5008 , , NA 23779 0.0853 NA 0.2575 False NA ,,, NA NA NA 2504 0.3579 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U08023 CCDS2094.1 2q14.1 2014-06-26 2014-06-26 ENSG00000153208 ENSG00000153208 10461 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing 7027 protein-coding gene gene with protein product 604705 c-mer proto-oncogene tyrosine kinase NA 8086340, 10343112 Standard XM_005263565 NA Approved mer, RP38 uc002thk.1 Q12866 OTTHUMG00000131278 ENST00000295408.4:c.1450+1039A>G chr2.hg19:g.112753020A>G NA Q9HBB4 hg19 CCDS2094.1 0.02 20.483818 CCAxACA COVERED NOVEL MERTK-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254046.2 0 22.869158 KEEP 0 0 0 76 2442 AA 1 1 0 + 13 60 503 0 0 30.72576 454 60 16328 658 ENST00000295408.4 0.027837 1 MERTK 10461 __UNKNOWN__ __UNKNOWN__ 2 112767406 112767406 __UNKNOWN__ Intron SNP A A G rs11884641 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:112767406A>G ENST00000295408.4 + 15 2217 MERTK_ENST00000409780.1_Intron|MERTK_ENST00000421804.2_Intron Q12866 MERTK_HUMAN MER proto-oncogene, tyrosine kinase NA NA apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068) cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028) ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714) breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10) 46 GGCGCTCTTGATTTTTTCAAA 0.438 NA G||| 1243 0.248203 0.2171 0.3545 5008 , , NA 19529 0.1012 NA 0.2565 False NA ,,, NA NA NA 2504 0.3579 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U08023 CCDS2094.1 2q14.1 2014-06-26 2014-06-26 ENSG00000153208 ENSG00000153208 10461 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing 7027 protein-coding gene gene with protein product 604705 c-mer proto-oncogene tyrosine kinase NA 8086340, 10343112 Standard XM_005263565 NA Approved mer, RP38 uc002thk.1 Q12866 OTTHUMG00000131278 ENST00000295408.4:c.1961-119A>G chr2.hg19:g.112767406A>G NA Q9HBB4 hg19 CCDS2094.1 0.02 4.484895 TTGxTTT COVERED NOVEL MERTK-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254046.2 0 6.918749 KEEP 0 0 0 23 722 AA 0.999892 0.999888 0 + 5 60 184 0 0 11.897618 108 60 3783 142 ENST00000295408.4 0.044248 0.999995 MERTK 10461 __UNKNOWN__ __UNKNOWN__ 2 112767483 112767483 __UNKNOWN__ Intron SNP A A G rs11884693 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:112767483A>G ENST00000295408.4 + 15 2217 MERTK_ENST00000409780.1_Intron|MERTK_ENST00000421804.2_Intron Q12866 MERTK_HUMAN MER proto-oncogene, tyrosine kinase NA NA apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068) cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028) ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714) breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10) 46 TGGTCACAGTAACAAGGACTC 0.423 NA A||| 1245 0.248602 0.2179 0.3545 5008 , , NA 19462 0.1022 NA 0.2565 False NA ,,, NA NA NA 2504 0.3579 NA NA NA NA 0 A 970,3436 365.4+/-317.4 114,742,1347 137 139 138 2.8 0.3 2 dbSNP_120 138 2077,6523 359.9+/-331.7 241,1595,2464 no intron MERTK NM_006343.2 355,2337,3811 GG,GA,AA 24.1512,22.0154,23.4276 112767483 3047,9959 2203 4300 6503 SO:0001627 intron_variant U08023 CCDS2094.1 2q14.1 2014-06-26 2014-06-26 ENSG00000153208 ENSG00000153208 10461 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing 7027 protein-coding gene gene with protein product 604705 c-mer proto-oncogene tyrosine kinase NA 8086340, 10343112 Standard XM_005263565 NA Approved mer, RP38 uc002thk.1 Q12866 OTTHUMG00000131278 ENST00000295408.4:c.1961-42A>G chr2.hg19:g.112767483A>G NA Q9HBB4 hg19 CCDS2094.1 0.02 11.826713 AGTxACA COVERED NOVEL MERTK-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254046.2 1 18.049582 KEEP 0 0 0 60 1810 AA 1 1 0 + 13 60 488 0 0 32.277206 262 60 9331 414 ENST00000295408.4 0.047273 1 MERTK 10461 __UNKNOWN__ __UNKNOWN__ 2 112767739 112767739 __UNKNOWN__ Intron SNP A A G rs75313362 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:112767739A>G ENST00000295408.4 + 15 2336 MERTK_ENST00000409780.1_Intron|MERTK_ENST00000421804.2_Intron Q12866 MERTK_HUMAN MER proto-oncogene, tyrosine kinase NA NA apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068) cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028) ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714) breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10) 46 TGAAGCCAGGAAGGAGAGGAC 0.473 NA A||| 943 0.188299 0.0287 0.3084 5008 , , NA 20046 0.0843 NA 0.2555 False NA ,,, NA NA NA 2504 0.3569 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U08023 CCDS2094.1 2q14.1 2014-06-26 2014-06-26 ENSG00000153208 ENSG00000153208 10461 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing 7027 protein-coding gene gene with protein product 604705 c-mer proto-oncogene tyrosine kinase NA 8086340, 10343112 Standard XM_005263565 NA Approved mer, RP38 uc002thk.1 Q12866 OTTHUMG00000131278 ENST00000295408.4:c.2079+96A>G chr2.hg19:g.112767739A>G NA Q9HBB4 hg19 CCDS2094.1 0.02 10.166806 AGGxAGG COVERED NOVEL MERTK-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254046.2 1 14.442885 KEEP 0 0 0 48 1496 AA 1 1 0 + 9 60 356 0 0 23.470434 217 60 7799 328 ENST00000295408.4 0.039823 1 MERTK 10461 __UNKNOWN__ __UNKNOWN__ 2 112767824 112767824 __UNKNOWN__ Intron SNP A A G rs77781750 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:112767824A>G ENST00000295408.4 + 15 2336 MERTK_ENST00000409780.1_Intron|MERTK_ENST00000421804.2_Intron Q12866 MERTK_HUMAN MER proto-oncogene, tyrosine kinase NA NA apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068) cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028) ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714) breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10) 46 GGCCTGCTCCAGGTATTATTA 0.517 NA A||| 1236 0.246805 0.2179 0.3415 5008 , , NA 20046 0.1022 NA 0.2565 False NA ,,, NA NA NA 2504 0.3579 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U08023 CCDS2094.1 2q14.1 2014-06-26 2014-06-26 ENSG00000153208 ENSG00000153208 10461 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing 7027 protein-coding gene gene with protein product 604705 c-mer proto-oncogene tyrosine kinase NA 8086340, 10343112 Standard XM_005263565 NA Approved mer, RP38 uc002thk.1 Q12866 OTTHUMG00000131278 ENST00000295408.4:c.2079+181A>G chr2.hg19:g.112767824A>G NA Q9HBB4 hg19 CCDS2094.1 0.02 7.011835 TCCxGGT COVERED NOVEL MERTK-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254046.2 0 6.620193 KEEP 0 0 0 22 701 AA 0.999879 0.999879 0 + 8 60 298 0 0 19.96339 146 60 5402 206 ENST00000295408.4 0.051948 1 MERTK 10461 __UNKNOWN__ __UNKNOWN__ 2 112776979 112776979 __UNKNOWN__ Intron SNP C C A rs3811640 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:112776979C>A ENST00000295408.4 + 16 2336 MERTK_ENST00000409780.1_Intron|MERTK_ENST00000421804.2_Intron Q12866 MERTK_HUMAN MER proto-oncogene, tyrosine kinase NA NA apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068) cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028) ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714) breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10) 46 CTTGTTTCCTCTATCATCTAG 0.398 NA C||| 1487 0.296925 0.3525 0.3646 5008 , , NA 18117 0.1091 NA 0.2992 False NA ,,, NA NA NA 2504 0.365 NA NA NA NA 0 C 1526,2880 483.3+/-359.7 272,982,949 142 152 149 2.5 0 2 dbSNP_107 149 2375,6225 396.9+/-345.6 323,1729,2248 no intron MERTK NM_006343.2 595,2711,3197 AA,AC,CC 27.6163,34.6346,29.9938 112776979 3901,9105 2203 4300 6503 SO:0001627 intron_variant U08023 CCDS2094.1 2q14.1 2014-06-26 2014-06-26 ENSG00000153208 ENSG00000153208 10461 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing 7027 protein-coding gene gene with protein product 604705 c-mer proto-oncogene tyrosine kinase NA 8086340, 10343112 Standard XM_005263565 NA Approved mer, RP38 uc002thk.1 Q12866 OTTHUMG00000131278 ENST00000295408.4:c.2080-11C>A chr2.hg19:g.112776979C>A NA Q9HBB4 hg19 CCDS2094.1 0.02 14.994442 CCTxTAT COVERED NOVEL MERTK-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254046.2 5 20.767414 KEEP 0 0 0 69 2498 CC 1 1 0 + 11 70 369 0 0 21.316445 345 60 13152 525 ENST00000295408.4 0.030899 1 CHCHD5 84269 __UNKNOWN__ __UNKNOWN__ 2 113342051 113342051 __UNKNOWN__ 5'UTR SNP G G T rs3748026 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:113342051G>T ENST00000324913.5 + 0 34 CHCHD5_ENST00000489052.1_3'UTR NM_032309.2 NP_115685.1 Q9BSY4 CHCH5_HUMAN coiled-coil-helix-coiled-coil-helix domain containing 5 NA NA mitochondrion (GO:0005739) NS(1)|endometrium(1)|large_intestine(4)|urinary_tract(1) 7 GACGAGCCGGGCCGGAAGAAG 0.592 NA OREG0014898 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) G||| 911 0.181909 0.0651 0.1988 5008 , , NA 15116 0.4345 NA 0.0706 False NA ,,, NA NA NA 2504 0.182 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant BC004498 CCDS2098.1 2q14.1 2012-10-15 2004-01-19 2004-01-21 ENSG00000125611 ENSG00000125611 84269 Coiled-coil-helix-coiled-coil-helix domain containing 17840 protein-coding gene gene with protein product mitochondrial intermembrane space cysteine motif protein of 14 kDa homolog (S. cerevisiae) chromosome 2 open reading frame 9 C2orf9 NA 22842048 Standard NM_032309 NM_032309 NA Approved MGC11104, MIC14 uc002thz.1 Q9BSY4 OTTHUMG00000131312 ENST00000324913.5:c.-174G>T chr2.hg19:g.113342051G>T 1449 Q585T4|Q8N8C4 hg19 CCDS2098.1 0.02 5.935785 CGGxCCG COVERED NOVEL CHCHD5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254081.2 3 35.810503 KEEP 0 0 0 119 4223 GG 1 1 0 + 7 60 238 0 0 14.609019 156 60 5675 371 ENST00000324913.5 0.042945 1 IL1F10 84639 __UNKNOWN__ __UNKNOWN__ 2 113831945 113831945 __UNKNOWN__ Silent SNP T T C rs3811058 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:113831945T>C ENST00000393197.2 + 2 493 c.72T>C c.(70-72)gaT>gaC p.D24D IL1F10_ENST00000341010.2_Silent_p.D24D|IL1F10_ENST00000337569.3_Intron NM_032556.5 NP_115945.4 Q8WWZ1 IL1FA_HUMAN interleukin 1 family, member 10 (theta) 24 NA extracellular space (GO:0005615) endometrium(1)|lung(6)|ovary(1) 8 ACACAAGAGATGGCCAGCTGC 0.547 NA T||| 885 0.176717 0.0477 0.1282 5008 , , NA 21509 0.5179 NA 0.0795 False NA ,,, NA NA NA 2504 0.1339 NA NA NA NA 0 T , 248,4158 145.0+/-179.8 8,232,1963 112 99 104 72,72 -8.5 0 2 dbSNP_107 104 627,7973 163.0+/-215.7 21,585,3694 no coding-synonymous,coding-synonymous IL1F10 NM_032556.5,NM_173161.2 , 29,817,5657 CC,CT,TT 7.2907,5.6287,6.7277 , 24/153,24/153 113831945 875,12131 2203 4300 6503 SO:0001819 synonymous_variant AY026753 CCDS2112.1 2q13 2011-07-14 ENSG00000136697 ENSG00000136697 84639 Interleukins and interleukin receptors 15552 protein-coding gene gene with protein product FIL1- theta, interleukin-1 receptor antagonist FKSG75 615296 NA 11747621, 11991723, 11991722 Standard NM_173161 NM_173161 NA Approved FKSG75, IL-1HY2, IL-1F10, IL1-theta, MGC11983, MGC119832, MGC119833 uc002tiu.3 Q8WWZ1 OTTHUMG00000131339 ENST00000393197.2:c.72T>C chr2.hg19:g.113831945T>C NA Q53SR9|Q56AT8|Q7RTZ5|Q969H5|Q9BYX1 hg19 CCDS2112.1 0.02 4.079359 AGAxGGC COVERED NOVEL IL1F10-002 KNOWN alternative_5_UTR|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000330725.1 2 6.319418 KEEP 0 0 0 21 677 TT 0.999869 0.999869 0 + 6 60 200 0 0 12.417126 119 60 4384 188 ENST00000393197.2 0.048 0.999999 IL1RN 3557 __UNKNOWN__ __UNKNOWN__ 2 113890304 113890304 __UNKNOWN__ Silent SNP T T C rs315952 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:113890304T>C ENST00000361779.3 + 6 633 c.288T>C c.(286-288)agT>agC p.S96S IL1RN_ENST00000409930.3_Silent_p.S130S|IL1RN_ENST00000259206.5_Silent_p.S133S|IL1RN_ENST00000409052.1_Silent_p.S96S|IL1RN_ENST00000354115.2_Silent_p.S112S NM_173843.2 NP_776215.1 P18510 IL1RA_HUMAN interleukin 1 receptor antagonist 130 NA acute-phase response (GO:0006953)|carboxylic acid metabolic process (GO:0019752)|chronic inflammatory response to antigenic stimulus (GO:0002439)|female pregnancy (GO:0007565)|fever generation (GO:0001660)|immune response (GO:0006955)|insulin secretion (GO:0030073)|lipid metabolic process (GO:0006629)|memory (GO:0007613)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of membrane potential (GO:0045837)|positive regulation of JUN kinase activity (GO:0043507)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|response to organonitrogen compound (GO:0010243) cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886) interleukin-1 receptor antagonist activity (GO:0005152)|interleukin-1 receptor binding (GO:0005149)|interleukin-1 Type I receptor antagonist activity (GO:0045352)|interleukin-1 Type II receptor antagonist activity (GO:0045353)|interleukin-1, Type I receptor binding (GO:0005150)|interleukin-1, Type II receptor binding (GO:0005151) breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2) 10 Rilonacept(DB06372) GCTCAGACAGTGGCCCCACCA 0.572 NA Lichen Sclerosis et Atrophicus, Familial Clustering of C||| 1753 0.35004 0.466 0.2147 5008 , , NA 18651 0.5556 NA 0.2803 False NA ,,, NA NA NA 2504 0.1493 NA NA NA NA 0 C ,,, 1921,2485 626.0+/-394.6 423,1075,705 94 94 94 336,399,390,288 -10.8 0 2 dbSNP_79 94 2412,6188 699.1+/-405.1 342,1728,2230 yes coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous IL1RN NM_000577.4,NM_173841.2,NM_173842.2,NM_173843.2 ,,, 765,2803,2935 CC,CT,TT 28.0465,43.5996,33.3154 ,,, 112/160,133/181,130/178,96/144 113890304 4333,8673 2203 4300 6503 SO:0001819 synonymous_variant Familial Cancer Database Lichen Sclerosis, Familial M55646 CCDS2113.1, CCDS2114.1, CCDS2115.1, CCDS46396.1 2q14.2 2014-09-17 ENSG00000136689 ENSG00000136689 3557 Interleukins and interleukin receptors, Endogenous ligands 6000 protein-coding gene gene with protein product interleukin-1 receptor antagonist protein, intracellular interleukin-1 receptor antagonist 147679 NA 1386337, 8432529 Standard NM_173841 NM_000577 NA Approved IL1RA, ICIL-1RA, IL1F3, IRAP, IL-1RN, MGC10430 uc002tjb.3 P18510 OTTHUMG00000131341 ENST00000361779.3:c.288T>C chr2.hg19:g.113890304T>C NA A8K4G1|Q14628|Q53SC2|Q7RTZ4|Q96GD6|Q9UPC0 hg19 CCDS2115.1 0.02 16.136574 CAGxGGC COVERED NOVEL IL1RN-003 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000254118.1 2 17.447101 KEEP 0 0 0 58 1741 TT 1 1 0 + 14 60 503 0 0 30.924611 371 60 13102 570 ENST00000361779.3 0.036364 1 IL1RN 3557 __UNKNOWN__ __UNKNOWN__ 2 113890586 113890586 __UNKNOWN__ 3'UTR SNP C C G rs315951 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:113890586C>G ENST00000361779.3 + 0 915 IL1RN_ENST00000409930.3_3'UTR|IL1RN_ENST00000259206.5_3'UTR|IL1RN_ENST00000409052.1_3'UTR|IL1RN_ENST00000354115.2_3'UTR NM_173843.2 NP_776215.1 P18510 IL1RA_HUMAN interleukin 1 receptor antagonist NA NA acute-phase response (GO:0006953)|carboxylic acid metabolic process (GO:0019752)|chronic inflammatory response to antigenic stimulus (GO:0002439)|female pregnancy (GO:0007565)|fever generation (GO:0001660)|immune response (GO:0006955)|insulin secretion (GO:0030073)|lipid metabolic process (GO:0006629)|memory (GO:0007613)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of membrane potential (GO:0045837)|positive regulation of JUN kinase activity (GO:0043507)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|response to organonitrogen compound (GO:0010243) cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886) interleukin-1 receptor antagonist activity (GO:0005152)|interleukin-1 receptor binding (GO:0005149)|interleukin-1 Type I receptor antagonist activity (GO:0045352)|interleukin-1 Type II receptor antagonist activity (GO:0045353)|interleukin-1, Type I receptor binding (GO:0005150)|interleukin-1, Type II receptor binding (GO:0005151) breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2) 10 Rilonacept(DB06372) GGCGTCACAACAACCTGGTCA 0.602 NA Lichen Sclerosis et Atrophicus, Familial Clustering of c||| 1778 0.355032 0.4592 0.2133 5008 , , NA 18094 0.5863 NA 0.2833 False NA ,,, NA NA NA 2504 0.1503 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Familial Cancer Database Lichen Sclerosis, Familial M55646 CCDS2113.1, CCDS2114.1, CCDS2115.1, CCDS46396.1 2q14.2 2014-09-17 ENSG00000136689 ENSG00000136689 3557 Interleukins and interleukin receptors, Endogenous ligands 6000 protein-coding gene gene with protein product interleukin-1 receptor antagonist protein, intracellular interleukin-1 receptor antagonist 147679 NA 1386337, 8432529 Standard NM_173841 NM_000577 NA Approved IL1RA, ICIL-1RA, IL1F3, IRAP, IL-1RN, MGC10430 uc002tjb.3 P18510 OTTHUMG00000131341 ENST00000361779.3:c.*138C>G chr2.hg19:g.113890586C>G NA A8K4G1|Q14628|Q53SC2|Q7RTZ4|Q96GD6|Q9UPC0 hg19 CCDS2115.1 0.02 9.473183 CAAxAAC COVERED NOVEL IL1RN-003 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000254118.1 1 2.944517 KEEP 0 1 32 21 734 CC 0.999879 0.999879 0 + 13 60 475 0 0 32.504523 201 60 7420 259 ENST00000361779.3 0.060748 1 PSD4 23550 __UNKNOWN__ __UNKNOWN__ 2 113956371 113956371 __UNKNOWN__ Silent SNP G G C rs2276561 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:113956371G>C ENST00000441564.3 + 15 2761 c.2592G>C c.(2590-2592)acG>acC p.T864T PSD4_ENST00000245796.6_Silent_p.T893T Q8NDX1 PSD4_HUMAN pleckstrin and Sec7 domain containing 4 893 PH. {ECO:0000255|PROSITE- ProRule:PRU00145}. NA neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012) cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886) ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543) cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CTGCGGCCACGCACTCCGCGC 0.706 NA G||| 2211 0.441494 0.1838 0.5288 5008 , , NA 10664 0.6498 NA 0.4692 False NA ,,, NA NA NA 2504 0.4847 NA NA NA NA 0 G 931,3401 105,721,1340 22 19 20 2679 -4.7 0.9 2 dbSNP_100 20 3876,4582 947,1982,1300 no coding-synonymous PSD4 NM_012455.2 1052,2703,2640 CC,CG,GG 45.8264,21.4912,37.5841 893/1057 113956371 4807,7983 2166 4229 6395 SO:0001819 synonymous_variant U63127 CCDS33276.1 2q13 2013-01-10 ENSG00000125637 ENSG00000125637 23550 Pleckstrin homology (PH) domain containing 19096 protein-coding gene gene with protein product 614442 NA 12082148 Standard NM_012455 XM_005263634 NA Approved TIC, EFA6B uc002tjc.3 Q8NDX1 OTTHUMG00000153339 ENST00000441564.3:c.2592G>C chr2.hg19:g.113956371G>C NA A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4 hg19 0.02 7.868069 CACxCAC COVERED NOVEL PSD4-003 NOVEL basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000330791.3 0 27.990413 KEEP 0 1 31 104 3389 GG 1 1 0 + 7 60 249 0 0 14.395187 243 60 7727 479 ENST00000441564.3 0.028 1 RABL2A 11159 __UNKNOWN__ __UNKNOWN__ 2 114400249 114400249 __UNKNOWN__ 3'UTR SNP C C T rs75661355 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:114400249C>T ENST00000393167.3 + 0 1455 RABL2A_ENST00000409875.1_3'UTR|RABL2A_ENST00000376439.3_Intron|RABL2A_ENST00000478880.1_3'UTR|RABL2A_ENST00000393166.3_Intron|RABL2A_ENST00000393165.3_Intron|RABL2A_ENST00000409842.1_3'UTR NM_013412.2 NP_038198.1 Q9UBK7 RBL2A_HUMAN RAB, member of RAS oncogene family-like 2A NA NA GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264) GTP binding (GO:0005525)|GTPase activity (GO:0003924) endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(3) 9 gacggagtctcgctctgtcgc 0.552 NA C||| 449 0.0896565 0.0053 0.0562 5008 , , NA 15850 0.1687 NA 0.1233 False NA ,,, NA NA NA 2504 0.1115 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS2118.1 2q13 2014-05-09 ENSG00000144134 ENSG00000144134 11159 RAB, member RAS oncogene 9799 protein-coding gene gene with protein product 605412 NA 10444334 Standard NM_007082 NA Approved uc010flb.3 Q9UBK7 OTTHUMG00000047828 ENST00000393167.3:c.*543C>T chr2.hg19:g.114400249C>T NA B7ZBD6|Q9NU37 hg19 CCDS2118.1 0.02 14.947861 TCTxGCT COVERED NOVEL RABL2A-002 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000109047.2 19 24.139227 KEEP 34 2 56 100 3501 CC 1 1 0 + 18 60 629 0 0 39.97629 366 60 12221 619 ENST00000393167.3 0.046875 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 114426090 114426090 __UNKNOWN__ IGR SNP C C T rs80162835 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:114426090C>T NA NA RABL2A (25117 upstream) : AC017074.1 (652 downstream) NA NA NA CAGGATACCCCGCGCACACAT 0.577 NA .||| 482 0.096246 0.0106 0.0548 5008 , , NA 19811 0.1786 NA 0.1282 False NA ,,, NA NA NA 2504 0.1237 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.114426090C>T NA hg19 0.02 7.032723 CCCxGCG COVERED NOVEL 0 0 6.621115 KEEP 11 0 0 22 758 CC 0.999863 0.999863 0 7 60 255 0 0 16.321901 155 60 5565 225 0.04321 1 ACTR3 10096 __UNKNOWN__ __UNKNOWN__ 2 114709476 114709476 __UNKNOWN__ Intron SNP A A T rs13418557 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:114709476A>T ENST00000263238.2 + 10 1397 ACTR3_ENST00000536059.1_Intron|ACTR3_ENST00000535589.2_Intron NM_001277140.1|NM_005721.3 NP_001264069.1|NP_005712.1 P61158 ARP3_HUMAN ARP3 actin-related protein 3 homolog (yeast) NA NA Arp2/3 complex-mediated actin nucleation (GO:0034314)|asymmetric cell division (GO:0008356)|cellular component movement (GO:0006928)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|meiotic chromosome movement towards spindle pole (GO:0016344)|meiotic cytokinesis (GO:0033206)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neuron differentiation (GO:0045666)|regulation of myosin II filament organization (GO:0043519)|response to antibiotic (GO:0046677)|response to carbohydrate (GO:0009743)|spindle localization (GO:0051653) actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|excitatory synapse (GO:0060076)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|hemidesmosome (GO:0030056)|lamellipodium (GO:0030027)|membrane (GO:0016020)|podosome (GO:0002102) ATP binding (GO:0005524)|structural constituent of cytoskeleton (GO:0005200) autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(2) 15 CTTGATTAGGATGAGAAATAT 0.383 NA A||| 1367 0.272963 0.447 0.1614 5008 , , NA 14487 0.3829 NA 0.0547 False NA ,,, NA NA NA 2504 0.228 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF006083 CCDS33277.1, CCDS63000.1 2q14.1 2010-07-20 2001-11-28 ENSG00000115091 ENSG00000115091 10096 170 protein-coding gene gene with protein product 604222 ARP3 (actin-related protein 3, yeast) homolog NA 9230079 Standard NM_005721 NM_005721 NA Approved ARP3 uc002tkx.2 P61158 OTTHUMG00000153497 ENST00000263238.2:c.1077+54A>T chr2.hg19:g.114709476A>T NA P32391|Q53QM2 hg19 CCDS33277.1 0.02 8.358425 AGGxTGA COVERED NOVEL ACTR3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000331366.2 1 13.537535 KEEP 0 0 0 45 1373 AA 1 1 0 + 13 60 475 0 0 31.521515 237 60 8742 347 ENST00000263238.2 0.052 1 DPP10 57628 __UNKNOWN__ __UNKNOWN__ 2 116600388 116600388 __UNKNOWN__ 3'UTR SNP A A G rs72830516 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:116600388A>G ENST00000410059.1 + 0 3338 DPP10_ENST00000409163.1_3'UTR|DPP10_ENST00000310323.8_3'UTR NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) NA NA integral component of membrane (GO:0016021)|membrane (GO:0016020) serine-type peptidase activity (GO:0008236) breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 GTCTATTATTATGCTTAAGAA 0.284 NA A||| 1125 0.224641 0.0061 0.2233 5008 , , NA 17994 0.5486 NA 0.2068 False NA ,,, NA NA NA 2504 0.2055 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY172661 CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1 2q14.1 2010-05-04 2010-05-04 ENSG00000175497 ENSG00000175497 57628 20823 protein-coding gene gene with protein product 608209 dipeptidylpeptidase 10, dipeptidyl-peptidase 10 NA 10819331, 12662155 Standard NM_020868 NM_020868 NA Approved DPRP3 uc002tle.3 Q8N608 OTTHUMG00000153294 ENST00000410059.1:c.*467A>G chr2.hg19:g.116600388A>G NA A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236 hg19 CCDS46400.1 0.02 4.799136 ATTxTGC COVERED NOVEL DPP10-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000330580.4 0 2.407124 KEEP 0 0 0 8 246 AA 0.99257 0.99257 0 + 6 60 237 0 0 15.944674 127 60 4624 152 ENST00000410059.1 0.045113 1 DPP10 57628 __UNKNOWN__ __UNKNOWN__ 2 116602671 116602671 __UNKNOWN__ 3'UTR SNP C C T rs4849429 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:116602671C>T ENST00000410059.1 + 0 5621 NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) NA NA integral component of membrane (GO:0016021)|membrane (GO:0016020) serine-type peptidase activity (GO:0008236) breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 AGACATTGGGCTTTACCATAT 0.373 NA C||| 766 0.152955 0.0166 0.1297 5008 , , NA 19252 0.4593 NA 0.1004 False NA ,,, NA NA NA 2504 0.092 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY172661 CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1 2q14.1 2010-05-04 2010-05-04 ENSG00000175497 ENSG00000175497 57628 20823 protein-coding gene gene with protein product 608209 dipeptidylpeptidase 10, dipeptidyl-peptidase 10 NA 10819331, 12662155 Standard NM_020868 NM_020868 NA Approved DPRP3 uc002tle.3 Q8N608 OTTHUMG00000153294 ENST00000410059.1:c.*2750C>T chr2.hg19:g.116602671C>T NA A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236 hg19 CCDS46400.1 0.02 6.058766 GGGxTTT COVERED NOVEL DPP10-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000330580.4 0 6.922661 KEEP 0 0 0 23 820 CC 0.999892 0.999892 0 + 7 60 254 0 0 15.859911 175 60 6717 241 ENST00000410059.1 0.038462 1 CCDC93 54520 __UNKNOWN__ __UNKNOWN__ 2 118673236 118673236 __UNKNOWN__ 3'UTR SNP C C G rs186349283 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:118673236C>G ENST00000376300.2 - 0 6716 HTR5BP_ENST00000434708.1_RNA|CCDC93_ENST00000319432.5_3'UTR NM_019044.4 NP_061917.3 Q567U6 CCD93_HUMAN coiled-coil domain containing 93 NA NA breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2) 29 AAAAGTCATTCCCACCCCTCT 0.383 NA C||| 10 0.00199681 0.0 0.0 5008 , , NA 18381 0.0089 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC028609 CCDS2121.2 2q14.1 2008-02-05 ENSG00000125633 ENSG00000125633 54520 25611 protein-coding gene gene with protein product NA 12477932 Standard NM_019044 NM_019044 NA Approved FLJ10996 uc002tlj.3 Q567U6 OTTHUMG00000058517 ENST00000376300.2:c.*4683G>C chr2.hg19:g.118673236C>G NA A8K3V7|Q4LE78|Q53TJ2|Q8TBX5|Q9H6R5|Q9NV15 hg19 CCDS2121.2 0.02 4.795693 ATTxCCA COVERED NOVEL CCDC93-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000129615.1 1 5.718662 KEEP 0 0 0 19 672 CC 0.99986 0.999859 0 - 5 60 199 0 0 13.20603 118 60 4408 172 ENST00000376300.2 0.04065 0.999999 CCDC93 54520 __UNKNOWN__ __UNKNOWN__ 2 118675977 118675977 __UNKNOWN__ 3'UTR SNP A A C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:118675977A>C ENST00000376300.2 - 0 3975 HTR5BP_ENST00000434708.1_RNA|CCDC93_ENST00000319432.5_3'UTR NM_019044.4 NP_061917.3 Q567U6 CCD93_HUMAN coiled-coil domain containing 93 NA NA breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2) 29 ACAGCTCAAAATAAATGCCTG 0.398 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC028609 CCDS2121.2 2q14.1 2008-02-05 ENSG00000125633 ENSG00000125633 54520 25611 protein-coding gene gene with protein product NA 12477932 Standard NM_019044 NM_019044 NA Approved FLJ10996 uc002tlj.3 Q567U6 OTTHUMG00000058517 ENST00000376300.2:c.*1942T>G chr2.hg19:g.118675977A>C NA A8K3V7|Q4LE78|Q53TJ2|Q8TBX5|Q9H6R5|Q9NV15 hg19 CCDS2121.2 0.02 12.094877 AAAxTAA COVERED NOVEL CCDC93-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000129615.1 1 14.443728 KEEP 0 0 0 48 1521 AA 1 1 0 - 14 60 539 0 0 36.742261 253 60 9177 367 ENST00000376300.2 0.052434 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 119695176 119695176 __UNKNOWN__ IGR SNP A A G rs10180048 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:119695176A>G NA NA EN1 (89922 upstream) : MARCO (4565 downstream) NA NA NA CCAGAGAGCTACCTTAGGCTC 0.443 NA G||| 2912 0.58147 0.5711 0.598 5008 , , NA 19671 0.6518 NA 0.6541 False NA ,,, NA NA NA 2504 0.4366 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.119695176A>G NA hg19 0.02 2.054044 GCTxCCT COVERED NOVEL 0 0 3.0039 KEEP 0 0 0 10 268 AA 0.992708 0.992638 0 7 60 264 0 0 18.888446 88 60 3088 121 0.073684 0.99993 STEAP3 55240 __UNKNOWN__ __UNKNOWN__ 2 119988565 119988565 __UNKNOWN__ 5'UTR SNP G G A rs838100 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:119988565G>A ENST00000354888.5 + 0 451 STEAP3_ENST00000393110.2_5'UTR|STEAP3_ENST00000409811.1_Intron|STEAP3_ENST00000393107.2_Intron|STEAP3_ENST00000393106.2_Intron|STEAP3_ENST00000450943.2_5'UTR|STEAP3_ENST00000393108.2_Intron NM_182915.2 NP_878919.2 Q658P3 STEA3_HUMAN STEAP family member 3, metalloreductase NA NA apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cellular iron ion homeostasis (GO:0006879)|copper ion import (GO:0015677)|exosomal secretion (GO:1990182)|ferric iron import into cell (GO:0097461)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|protein secretion (GO:0009306)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085) endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886) cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872) breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1) 17 TGACCTGAGAGCCTCAGACCC 0.597 NA G||| 1396 0.278754 0.1649 0.2637 5008 , , NA 20189 0.3363 NA 0.4185 False NA ,,, NA NA NA 2504 0.2403 NA NA NA NA 0 G ,, 839,3451 100,639,1406 65 78 74 ,, 1 0 2 dbSNP_86 74 3492,4984 747,1998,1493 no intron,intron,utr-5 STEAP3 NM_001008410.1,NM_018234.2,NM_182915.2 ,, 847,2637,2899 AA,AG,GG 41.1987,19.5571,33.9261 ,, ,, 119988565 4331,8435 2145 4238 6383 SO:0001623 5_prime_UTR_variant AY029585 CCDS2125.1, CCDS42738.1 2q14.2 2011-09-30 2011-09-30 ENSG00000115107 ENSG00000115107 55240 24592 protein-coding gene gene with protein product 609671 NA 12606722 Standard NM_018234 NM_182915 NA Approved TSAP6, dudlin-2, STMP3 uc002tlr.3 Q658P3 OTTHUMG00000131402 ENST00000354888.5:c.-54G>A chr2.hg19:g.119988565G>A NA A8K6E3|Q4VBR2|Q4ZG36|Q53SQ8|Q7Z389|Q86SF6|Q8NEW6|Q8TDP3|Q8TF03|Q9NVB5 hg19 CCDS2125.1 0.02 16.481255 AGAxCCT COVERED NOVEL STEAP3-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254193.1 1 7.603579 KEEP 0 3 93 58 2081 GG 1 1 0 + 19 60 666 0 0 41.989043 406 60 15104 593 ENST00000354888.5 0.044706 1 STEAP3 55240 __UNKNOWN__ __UNKNOWN__ 2 120021319 120021319 __UNKNOWN__ 3'UTR SNP C C T rs3769653 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:120021319C>T ENST00000354888.5 + 0 2376 STEAP3_ENST00000393110.2_3'UTR|STEAP3_ENST00000425223.2_3'UTR|STEAP3_ENST00000393106.2_3'UTR|STEAP3_ENST00000393108.2_3'UTR NM_182915.2 NP_878919.2 Q658P3 STEA3_HUMAN STEAP family member 3, metalloreductase NA NA apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cellular iron ion homeostasis (GO:0006879)|copper ion import (GO:0015677)|exosomal secretion (GO:1990182)|ferric iron import into cell (GO:0097461)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|protein secretion (GO:0009306)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085) endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886) cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872) breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1) 17 GCCCACCCCACCCCCACAACT 0.537 NA C||| 1472 0.29393 0.1604 0.2939 5008 , , NA 15826 0.3274 NA 0.4642 False NA ,,, NA NA NA 2504 0.2648 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY029585 CCDS2125.1, CCDS42738.1 2q14.2 2011-09-30 2011-09-30 ENSG00000115107 ENSG00000115107 55240 24592 protein-coding gene gene with protein product 609671 NA 12606722 Standard NM_018234 NM_182915 NA Approved TSAP6, dudlin-2, STMP3 uc002tlr.3 Q658P3 OTTHUMG00000131402 ENST00000354888.5:c.*405C>T chr2.hg19:g.120021319C>T NA A8K6E3|Q4VBR2|Q4ZG36|Q53SQ8|Q7Z389|Q86SF6|Q8NEW6|Q8TDP3|Q8TF03|Q9NVB5 hg19 CCDS2125.1 0.02 7.942952 CCAxCCC COVERED NOVEL STEAP3-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254193.1 1 6.45331 KEEP 0 1 33 33 1150 CC 0.999998 0.999998 0 + 11 60 358 0 0 22.201471 205 60 7163 311 ENST00000354888.5 0.050926 1 SCTR 6344 __UNKNOWN__ __UNKNOWN__ 2 120197670 120197670 __UNKNOWN__ 3'UTR SNP G G A rs1042656 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:120197670G>A ENST00000019103.5 - 0 1613 NM_002980.2 NP_002971.2 P47872 SCTR_HUMAN secretin receptor NA NA digestion (GO:0007586)|excretion (GO:0007588)|G-protein coupled receptor signaling pathway (GO:0007186) cytoplasmic microtubule (GO:0005881)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) secretin receptor activity (GO:0015055) central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3) 19 Secretin(DB00021) GTCTCTGTCCGTGGGTGACCC 0.622 NA G||| 2760 0.551118 0.3699 0.7089 5008 , , NA 19431 0.5565 NA 0.6879 False NA ,,, NA NA NA 2504 0.5378 NA NA NA NA 0 G 1751,2655 520.9+/-370.4 378,995,830 50 42 45 -6.2 0 2 dbSNP_86 45 5916,2684 679.7+/-403.6 2029,1858,413 no utr-3 SCTR NM_002980.2 2407,2853,1243 AA,AG,GG 31.2093,39.7413,41.0503 120197670 7667,5339 2203 4300 6503 SO:0001624 3_prime_UTR_variant CCDS2127.1 2q14.1 2012-08-10 ENSG00000080293 ENSG00000080293 6344 GPCR / Class B : Glucagon receptors 10608 protein-coding gene gene with protein product 182098 NA 1646711 Standard NM_002980 NA Approved uc002tma.3 P47872 OTTHUMG00000131407 ENST00000019103.5:c.*23C>T chr2.hg19:g.120197670G>A NA Q12961|Q13213|Q53T00 hg19 CCDS2127.1 0.02 2.068243 TCCxTGG COVERED NOVEL SCTR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254198.2 0 3.912247 KEEP 0 0 0 13 431 GG 0.994391 0.993801 0 - 4 60 152 0 0 10.169265 78 60 2717 115 ENST00000019103.5 0.04878 0.999407 FLJ14816 0 __UNKNOWN__ __UNKNOWN__ 2 121223274 121223274 __UNKNOWN__ Missense_Mutation SNP C C T rs17050160 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:121223274C>T ENST00000593290.1 - 1 423 c.413G>A c.(412-414)tGt>tAt p.C138Y NA NA NA ATAAAACTGACAGCCAACTCG 0.547 NA C||| 857 0.171126 0.233 0.0663 5008 , , NA 19009 0.1577 NA 0.0517 False NA ,,, NA NA NA 2504 0.2986 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense NA NA NA NA ENST00000593290.1:c.413G>A chr2.hg19:g.121223274C>T ENSP00000469038:p.Cys138Tyr NA hg19 0.02 5.998579 TGAxAGC COVERED NOVEL FLJ14816-201 KNOWN basic|appris_principal protein_coding NA protein_coding 1 16.553185 KEEP 0 0 0 55 1931 CC 1 1 0 - 7 60 230 0 0 13.445363 183 60 6841 318 ENST00000593290.1 0.036842 1 CLASP1 23332 __UNKNOWN__ __UNKNOWN__ 2 122168486 122168486 __UNKNOWN__ Silent SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:122168486G>A ENST00000409078.3 - 23 2772 c.2272C>T c.(2272-2274)Ctg>Ttg p.L758L CLASP1_ENST00000541859.1_Silent_p.L527L|CLASP1_ENST00000455322.2_Silent_p.L758L|CLASP1_ENST00000397587.3_Silent_p.L766L|CLASP1_ENST00000541377.1_Silent_p.L765L|CLASP1_ENST00000263710.4_Silent_p.L794L|CLASP1_ENST00000545861.1_Silent_p.L534L Q7Z460 CLAP1_HUMAN cytoplasmic linker associated protein 1 794 Interaction with microtubules, MAPRE1 and MAPRE3.|Ser-rich. NA axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111) cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876) kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010) NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1) 47 Renal(3;0.0496) CTTGTGCTCAGAACTCTCATG 0.403 NA NA NA NA NA NA NA NA NA NA NA 0 95 93 93 NA NA 2 NA 122168486 1933 4145 6078 SO:0001819 synonymous_variant AB014522 2q14.2-q14.3 2013-01-18 ENSG00000074054 ENSG00000074054 23332 17088 protein-coding gene gene with protein product multiple asters 1 605852 NA 9734811, 10899121, 16914514 Standard NM_015282 NM_015282 NA Approved KIAA0622, MAST1 uc002tnc.3 Q7Z460 OTTHUMG00000153331 ENST00000409078.3:c.2272C>T chr2.hg19:g.122168486G>A NA B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5 hg19 0.02 16.59242 TCAxAAC COVERED NOVEL CLASP1-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000330853.4 1 23.777289 KEEP 0 0 0 79 2804 GG 1 1 0 - 12 60 434 0 0 25.17296 433 60 16530 636 ENST00000409078.3 0.026966 1 BIN1 274 __UNKNOWN__ __UNKNOWN__ 2 127808161 127808161 __UNKNOWN__ Intron SNP G G A rs7558000 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:127808161G>A ENST00000316724.5 - 18 1984 BIN1_ENST00000352848.3_Intron|BIN1_ENST00000346226.3_Intron|BIN1_ENST00000393041.3_Intron|BIN1_ENST00000259238.4_Intron|BIN1_ENST00000393040.3_Intron|BIN1_ENST00000376113.2_Intron|BIN1_ENST00000351659.3_Intron|BIN1_ENST00000466111.1_Intron|BIN1_ENST00000409400.1_Intron|BIN1_ENST00000357970.3_Intron|BIN1_ENST00000348750.4_Intron NM_139343.2 NP_647593.1 O00499 BIN1_HUMAN bridging integrator 1 NA NA cell proliferation (GO:0008283)|endocytosis (GO:0006897)|lipid tube assembly (GO:0060988)|muscle cell differentiation (GO:0042692)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of endocytosis (GO:0045807)|positive regulation of GTPase activity (GO:0043547)|regulation of cell cycle arrest (GO:0071156)|regulation of neuron differentiation (GO:0045664)|viral process (GO:0016032) actin cytoskeleton (GO:0015629)|axon (GO:0030424)|axon initial segment (GO:0043194)|axon terminus (GO:0043679)|cerebellar mossy fiber (GO:0044300)|cytoplasm (GO:0005737)|I band (GO:0031674)|lipid tube (GO:0060987)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)|T-tubule (GO:0030315)|varicosity (GO:0043196)|Z disc (GO:0030018) identical protein binding (GO:0042802)|tau protein binding (GO:0048156) NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3) 24 Colorectal(110;0.0831) BRCA - Breast invasive adenocarcinoma(221;0.073) CACAGAGCACGGGCCTTGCGT 0.617 NA OREG0014962 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) G||| 1140 0.227636 0.3979 0.1225 5008 , , NA 20272 0.1528 NA 0.1799 False NA ,,, NA NA NA 2504 0.1984 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U68485 CCDS2137.1, CCDS2138.1, CCDS2139.1, CCDS2140.1, CCDS2141.1, CCDS2142.1, CCDS2143.1, CCDS42743.1, CCDS42744.1, CCDS46403.1 2q14 2014-09-17 ENSG00000136717 ENSG00000136717 274 1052 protein-coding gene gene with protein product amphiphysin II 601248 AMPHL NA 8725406, 8782822, 17676042 Standard NM_139343 NM_004305 NA Approved SH3P9, AMPH2 uc002tns.2 O00499 OTTHUMG00000131465 ENST00000316724.5:c.1573-63C>T chr2.hg19:g.127808161G>A 1560 O00297|O00545|O43867|O60552|O60553|O60554|O60555|O75514|O75515|O75516|O75517|O75518|Q659B7|Q92944|Q99688 hg19 CCDS2138.1 0.02 6.185605 CACxGGC COVERED NOVEL BIN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254298.2 0 10.8343 KEEP 0 0 0 36 1241 GG 0.999999 0.999999 0 - 8 60 285 0 0 18.112907 172 60 5957 251 ENST00000316724.5 0.044444 1 BIN1 274 __UNKNOWN__ __UNKNOWN__ 2 127808170 127808170 __UNKNOWN__ Intron SNP G G A rs7558001 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:127808170G>A ENST00000316724.5 - 18 1984 BIN1_ENST00000352848.3_Intron|BIN1_ENST00000346226.3_Intron|BIN1_ENST00000393041.3_Intron|BIN1_ENST00000259238.4_Intron|BIN1_ENST00000393040.3_Intron|BIN1_ENST00000376113.2_Intron|BIN1_ENST00000351659.3_Intron|BIN1_ENST00000466111.1_Intron|BIN1_ENST00000409400.1_Intron|BIN1_ENST00000357970.3_Intron|BIN1_ENST00000348750.4_Intron NM_139343.2 NP_647593.1 O00499 BIN1_HUMAN bridging integrator 1 NA NA cell proliferation (GO:0008283)|endocytosis (GO:0006897)|lipid tube assembly (GO:0060988)|muscle cell differentiation (GO:0042692)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of endocytosis (GO:0045807)|positive regulation of GTPase activity (GO:0043547)|regulation of cell cycle arrest (GO:0071156)|regulation of neuron differentiation (GO:0045664)|viral process (GO:0016032) actin cytoskeleton (GO:0015629)|axon (GO:0030424)|axon initial segment (GO:0043194)|axon terminus (GO:0043679)|cerebellar mossy fiber (GO:0044300)|cytoplasm (GO:0005737)|I band (GO:0031674)|lipid tube (GO:0060987)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)|T-tubule (GO:0030315)|varicosity (GO:0043196)|Z disc (GO:0030018) identical protein binding (GO:0042802)|tau protein binding (GO:0048156) NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3) 24 Colorectal(110;0.0831) BRCA - Breast invasive adenocarcinoma(221;0.073) CGGGCCTTGCGTGTGGGAGGT 0.617 NA OREG0014962 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) g||| 961 0.191893 0.2663 0.1167 5008 , , NA 20272 0.1528 NA 0.1789 False NA ,,, NA NA NA 2504 0.1984 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U68485 CCDS2137.1, CCDS2138.1, CCDS2139.1, CCDS2140.1, CCDS2141.1, CCDS2142.1, CCDS2143.1, CCDS42743.1, CCDS42744.1, CCDS46403.1 2q14 2014-09-17 ENSG00000136717 ENSG00000136717 274 1052 protein-coding gene gene with protein product amphiphysin II 601248 AMPHL NA 8725406, 8782822, 17676042 Standard NM_139343 NM_004305 NA Approved SH3P9, AMPH2 uc002tns.2 O00499 OTTHUMG00000131465 ENST00000316724.5:c.1573-72C>T chr2.hg19:g.127808170G>A 1560 O00297|O00545|O43867|O60552|O60553|O60554|O60555|O75514|O75515|O75516|O75517|O75518|Q659B7|Q92944|Q99688 hg19 CCDS2138.1 0.02 6.563244 TGCxTGT COVERED NOVEL BIN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254298.2 0 9.028816 KEEP 0 0 0 30 1047 GG 0.999997 0.999997 0 - 9 60 335 0 0 22.486031 162 60 5759 232 ENST00000316724.5 0.052632 1 BIN1 274 __UNKNOWN__ __UNKNOWN__ 2 127816743 127816743 __UNKNOWN__ Intron SNP G G T rs587783346|rs6720741 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:127816743G>T ENST00000316724.5 - 11 1269 BIN1_ENST00000352848.3_Intron|BIN1_ENST00000346226.3_Intron|BIN1_ENST00000393041.3_Intron|BIN1_ENST00000259238.4_Intron|BIN1_ENST00000393040.3_Intron|BIN1_ENST00000376113.2_Intron|BIN1_ENST00000351659.3_Intron|BIN1_ENST00000466111.1_Intron|BIN1_ENST00000409400.1_Intron|BIN1_ENST00000357970.3_Intron|BIN1_ENST00000348750.4_Intron NM_139343.2 NP_647593.1 O00499 BIN1_HUMAN bridging integrator 1 NA NA cell proliferation (GO:0008283)|endocytosis (GO:0006897)|lipid tube assembly (GO:0060988)|muscle cell differentiation (GO:0042692)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of endocytosis (GO:0045807)|positive regulation of GTPase activity (GO:0043547)|regulation of cell cycle arrest (GO:0071156)|regulation of neuron differentiation (GO:0045664)|viral process (GO:0016032) actin cytoskeleton (GO:0015629)|axon (GO:0030424)|axon initial segment (GO:0043194)|axon terminus (GO:0043679)|cerebellar mossy fiber (GO:0044300)|cytoplasm (GO:0005737)|I band (GO:0031674)|lipid tube (GO:0060987)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)|T-tubule (GO:0030315)|varicosity (GO:0043196)|Z disc (GO:0030018) identical protein binding (GO:0042802)|tau protein binding (GO:0048156) NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3) 24 Colorectal(110;0.0831) BRCA - Breast invasive adenocarcinoma(221;0.073) TGTGGGGGAGGACAAGAAAGG 0.597 NA G||| 938 0.1873 0.2458 0.1153 5008 , , NA 13010 0.1567 NA 0.1789 False NA ,,, NA NA NA 2504 0.1994 NA NA NA NA 0 G ,,,,,,,,, 978,3398 122,734,1332 13 18 16 ,,,,,,,,, 0.4 0 2 dbSNP_116 16 1583,6979 152,1279,2850 no intron,intron,intron,intron,intron,intron,intron,intron,intron,intron BIN1 NM_004305.3,NM_139343.2,NM_139344.2,NM_139345.2,NM_139346.2,NM_139347.2,NM_139348.2,NM_139349.2,NM_139350.2,NM_139351.2 ,,,,,,,,, 274,2013,4182 TT,TG,GG 18.4887,22.3492,19.7944 ,,,,,,,,, ,,,,,,,,, 127816743 2561,10377 2188 4281 6469 SO:0001627 intron_variant U68485 CCDS2137.1, CCDS2138.1, CCDS2139.1, CCDS2140.1, CCDS2141.1, CCDS2142.1, CCDS2143.1, CCDS42743.1, CCDS42744.1, CCDS46403.1 2q14 2014-09-17 ENSG00000136717 ENSG00000136717 274 1052 protein-coding gene gene with protein product amphiphysin II 601248 AMPHL NA 8725406, 8782822, 17676042 Standard NM_139343 NM_004305 NA Approved SH3P9, AMPH2 uc002tns.2 O00499 OTTHUMG00000131465 ENST00000316724.5:c.858-12C>A chr2.hg19:g.127816743G>T NA O00297|O00545|O43867|O60552|O60553|O60554|O60555|O75514|O75515|O75516|O75517|O75518|Q659B7|Q92944|Q99688 hg19 CCDS2138.1 0.02 5.464748 GAGxACA COVERED NOVEL BIN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254298.2 1 20.153077 KEEP 0 0 0 67 2257 GG 1 1 0 - 9 60 285 0 0 17.320053 185 60 6870 338 ENST00000316724.5 0.046392 1 BIN1 274 __UNKNOWN__ __UNKNOWN__ 2 127834158 127834158 __UNKNOWN__ Intron SNP G G A rs73953230 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:127834158G>A ENST00000316724.5 - 2 577 BIN1_ENST00000352848.3_Intron|BIN1_ENST00000346226.3_Intron|BIN1_ENST00000393041.3_Intron|BIN1_ENST00000259238.4_Intron|BIN1_ENST00000393040.3_Intron|BIN1_ENST00000376113.2_Intron|BIN1_ENST00000351659.3_Intron|BIN1_ENST00000409400.1_Intron|BIN1_ENST00000357970.3_Intron|BIN1_ENST00000348750.4_Intron NM_139343.2 NP_647593.1 O00499 BIN1_HUMAN bridging integrator 1 NA NA cell proliferation (GO:0008283)|endocytosis (GO:0006897)|lipid tube assembly (GO:0060988)|muscle cell differentiation (GO:0042692)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of endocytosis (GO:0045807)|positive regulation of GTPase activity (GO:0043547)|regulation of cell cycle arrest (GO:0071156)|regulation of neuron differentiation (GO:0045664)|viral process (GO:0016032) actin cytoskeleton (GO:0015629)|axon (GO:0030424)|axon initial segment (GO:0043194)|axon terminus (GO:0043679)|cerebellar mossy fiber (GO:0044300)|cytoplasm (GO:0005737)|I band (GO:0031674)|lipid tube (GO:0060987)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)|T-tubule (GO:0030315)|varicosity (GO:0043196)|Z disc (GO:0030018) identical protein binding (GO:0042802)|tau protein binding (GO:0048156) NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3) 24 Colorectal(110;0.0831) BRCA - Breast invasive adenocarcinoma(221;0.073) CCTGGCAGCCGAATTTTCACA 0.502 NA G||| 33 0.00658946 0.0159 0.0014 5008 , , NA 16758 0.0109 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 G ,,,,,,,,, 56,4350 53.6+/-89.4 0,56,2147 149 143 145 ,,,,,,,,, -4.4 0 2 dbSNP_130 145 0,8600 0,0,4300 no intron,intron,intron,intron,intron,intron,intron,intron,intron,intron BIN1 NM_004305.3,NM_139343.2,NM_139344.2,NM_139345.2,NM_139346.2,NM_139347.2,NM_139348.2,NM_139349.2,NM_139350.2,NM_139351.2 ,,,,,,,,, 0,56,6447 AA,AG,GG 0.0,1.271,0.4306 ,,,,,,,,, ,,,,,,,,, 127834158 56,12950 2203 4300 6503 SO:0001627 intron_variant U68485 CCDS2137.1, CCDS2138.1, CCDS2139.1, CCDS2140.1, CCDS2141.1, CCDS2142.1, CCDS2143.1, CCDS42743.1, CCDS42744.1, CCDS46403.1 2q14 2014-09-17 ENSG00000136717 ENSG00000136717 274 1052 protein-coding gene gene with protein product amphiphysin II 601248 AMPHL NA 8725406, 8782822, 17676042 Standard NM_139343 NM_004305 NA Approved SH3P9, AMPH2 uc002tns.2 O00499 OTTHUMG00000131465 ENST00000316724.5:c.165+43C>T chr2.hg19:g.127834158G>A NA O00297|O00545|O43867|O60552|O60553|O60554|O60555|O75514|O75515|O75516|O75517|O75518|Q659B7|Q92944|Q99688 hg19 CCDS2138.1 0.02 6.531702 GCCxAAT COVERED NOVEL BIN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254298.2 1 25.278242 KEEP 0 0 0 84 2831 GG 1 1 0 - 9 60 334 0 0 22.050005 177 60 6108 361 ENST00000316724.5 0.048387 1 CYP27C1 339761 __UNKNOWN__ __UNKNOWN__ 2 127942334 127942334 __UNKNOWN__ 3'UTR SNP C C T rs35887875 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:127942334C>T ENST00000335247.7 - 0 3762 NM_001001665.3 NP_001001665.3 Q4G0S4 C27C1_HUMAN cytochrome P450, family 27, subfamily C, polypeptide 1 NA NA membrane (GO:0016020) heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1) 16 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.071) gttggaaacccgagacattgg 0.483 NA C||| 2231 0.445487 0.2829 0.5965 5008 , , NA 20641 0.6111 NA 0.4911 False NA ,,, NA NA NA 2504 0.3405 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AC027142 CCDS33285.1 2q14.3 2008-05-14 2007-05-18 ENSG00000186684 ENSG00000186684 339761 Cytochrome P450s 33480 protein-coding gene gene with protein product NA Standard NM_001001665 NM_001001665 NA Approved FLJ16008 uc002tod.2 Q4G0S4 OTTHUMG00000153400 ENST00000335247.7:c.*2513G>A chr2.hg19:g.127942334C>T NA Q6ZNI7 hg19 CCDS33285.1 0.02 11.824204 ACCxGAG COVERED NOVEL CYP27C1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000331046.1 11 19.795849 KEEP 0 1 32 77 2619 CC 1 1 0 - 19 60 723 0 0 50.679459 279 60 9527 472 ENST00000335247.7 0.063758 1 CYP27C1 339761 __UNKNOWN__ __UNKNOWN__ 2 127953054 127953054 __UNKNOWN__ Silent SNP A A C rs7568070 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:127953054A>C ENST00000335247.7 - 5 706 c.576T>G c.(574-576)acT>acG p.T192T CYP27C1_ENST00000409327.1_Silent_p.T192T NM_001001665.3 NP_001001665.3 Q4G0S4 C27C1_HUMAN cytochrome P450, family 27, subfamily C, polypeptide 1 192 NA membrane (GO:0016020) heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705) p.T192T(1) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1) 16 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.071) GGAGGTACACAGTCCAAGACA 0.542 NA C||| 1399 0.279353 0.4644 0.1499 5008 , , NA 17596 0.1141 NA 0.2664 False NA ,,, NA NA NA 2504 0.3047 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) C 1929,2477 624.5+/-394.3 419,1091,693 87 74 79 576 -8.9 0.2 2 dbSNP_116 79 2374,6226 701.5+/-405.2 334,1706,2260 no coding-synonymous CYP27C1 NM_001001665.3 753,2797,2953 CC,CA,AA 27.6047,43.7812,33.0847 192/373 127953054 4303,8703 2203 4300 6503 SO:0001819 synonymous_variant AC027142 CCDS33285.1 2q14.3 2008-05-14 2007-05-18 ENSG00000186684 ENSG00000186684 339761 Cytochrome P450s 33480 protein-coding gene gene with protein product NA Standard NM_001001665 NM_001001665 NA Approved FLJ16008 uc002tod.2 Q4G0S4 OTTHUMG00000153400 ENST00000335247.7:c.576T>G chr2.hg19:g.127953054A>C NA Q6ZNI7 hg19 CCDS33285.1 0.02 3.417327 CACxGTC COVERED NOVEL CYP27C1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000331046.1 1 4.247111 KEEP 0 1 34 26 810 AA 0.999988 0.999987 0 - 7 60 221 0 0 13.867432 113 60 4220 176 ENST00000335247.7 0.058333 0.999999 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 128007074 128007074 __UNKNOWN__ IGR SNP A A T rs12465955 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:128007074A>T NA NA CYP27C1 (29420 upstream) : ERCC3 (7791 downstream) NA NA NA CCCAAGGCAGATGATATGATT 0.537 NA A||| 2140 0.427316 0.27 0.6138 5008 , , NA 18735 0.6052 NA 0.4642 False NA ,,, NA NA NA 2504 0.2863 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.128007074A>T NA hg19 0.02 4.161583 CAGxTGA COVERED NOVEL 0 1 5.115785 KEEP 0 0 0 17 548 AA 0.999366 0.999366 0 11 60 408 0 0 28.981681 139 60 4897 207 0.073333 1 MAP3K2 10746 __UNKNOWN__ __UNKNOWN__ 2 128060163 128060163 __UNKNOWN__ 3'UTR SNP C C T rs4233584 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:128060163C>T ENST00000409947.1 - 0 7134 Q9Y2U5 M3K2_HUMAN mitogen-activated protein kinase kinase kinase 2 NA NA activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634) ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674) central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2) 7 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0706) Bosutinib(DB06616) CCTGGATTTCCTACTCACTGT 0.368 NA C||| 1892 0.377796 0.1974 0.5634 5008 , , NA 21113 0.6022 NA 0.3767 False NA ,,, NA NA NA 2504 0.2597 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF111105 CCDS46404.1 2q21.1 2011-06-09 ENSG00000169967 ENSG00000169967 10746 Mitogen-activated protein kinase cascade / Kinase kinase kinases 6854 protein-coding gene gene with protein product MAP/ERK kinase kinase 2 609487 MEKK2 NA 8621389, 10085062 Standard NM_006609 NM_006609 NA Approved MEKK2B uc002toj.2 Q9Y2U5 OTTHUMG00000153397 ENST00000409947.1:c.*4992G>A chr2.hg19:g.128060163C>T NA B9EG87|Q53QL9|Q53S75|Q59GZ6|Q8NC32|Q9NYK3 hg19 CCDS46404.1 0.02 10.275512 TTCxTAC COVERED NOVEL MAP3K2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000331014.1 2 9.330215 KEEP 0 0 0 31 1096 CC 0.999997 0.999997 0 - 15 60 583 0 0 41.528684 210 60 7792 318 ENST00000409947.1 0.066667 1 MAP3K2 10746 __UNKNOWN__ __UNKNOWN__ 2 128061053 128061053 __UNKNOWN__ 3'UTR SNP A A G rs4497825 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:128061053A>G ENST00000409947.1 - 0 6244 Q9Y2U5 M3K2_HUMAN mitogen-activated protein kinase kinase kinase 2 NA NA activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634) ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674) central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2) 7 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0706) Bosutinib(DB06616) TCTAGTTTGGAGATACTTTTA 0.408 NA G||| 2199 0.439097 0.3578 0.598 5008 , , NA 15718 0.6022 NA 0.4324 False NA ,,, NA NA NA 2504 0.2751 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF111105 CCDS46404.1 2q21.1 2011-06-09 ENSG00000169967 ENSG00000169967 10746 Mitogen-activated protein kinase cascade / Kinase kinase kinases 6854 protein-coding gene gene with protein product MAP/ERK kinase kinase 2 609487 MEKK2 NA 8621389, 10085062 Standard NM_006609 NM_006609 NA Approved MEKK2B uc002toj.2 Q9Y2U5 OTTHUMG00000153397 ENST00000409947.1:c.*4102T>C chr2.hg19:g.128061053A>G NA B9EG87|Q53QL9|Q53S75|Q59GZ6|Q8NC32|Q9NYK3 hg19 CCDS46404.1 0.02 6.088663 TGGxGAT COVERED NOVEL MAP3K2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000331014.1 3 10.230637 KEEP 0 0 0 34 1079 AA 0.999998 0.999998 0 - 12 60 429 0 0 29.165399 179 60 6597 276 ENST00000409947.1 0.062827 1 MAP3K2 10746 __UNKNOWN__ __UNKNOWN__ 2 128062048 128062048 __UNKNOWN__ 3'UTR SNP T T C rs3088374 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:128062048T>C ENST00000409947.1 - 0 5249 Q9Y2U5 M3K2_HUMAN mitogen-activated protein kinase kinase kinase 2 NA NA activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634) ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674) central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2) 7 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0706) Bosutinib(DB06616) GAAAAGCACATATAAGACTGC 0.388 NA T||| 2398 0.478834 0.3896 0.6023 5008 , , NA 16306 0.6964 NA 0.4294 False NA ,,, NA NA NA 2504 0.3384 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF111105 CCDS46404.1 2q21.1 2011-06-09 ENSG00000169967 ENSG00000169967 10746 Mitogen-activated protein kinase cascade / Kinase kinase kinases 6854 protein-coding gene gene with protein product MAP/ERK kinase kinase 2 609487 MEKK2 NA 8621389, 10085062 Standard NM_006609 NM_006609 NA Approved MEKK2B uc002toj.2 Q9Y2U5 OTTHUMG00000153397 ENST00000409947.1:c.*3107A>G chr2.hg19:g.128062048T>C NA B9EG87|Q53QL9|Q53S75|Q59GZ6|Q8NC32|Q9NYK3 hg19 CCDS46404.1 0.02 7.342558 ACAxATA COVERED NOVEL MAP3K2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000331014.1 2 14.440315 KEEP 0 0 0 48 1464 TT 1 1 0 - 13 60 498 0 0 35.235349 183 60 6723 286 ENST00000409947.1 0.066327 1 MAP3K2 10746 __UNKNOWN__ __UNKNOWN__ 2 128081682 128081682 __UNKNOWN__ Intron SNP C C A rs12622436 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:128081682C>A ENST00000409947.1 - 10 1028 MAP3K2_ENST00000344908.5_Intron Q9Y2U5 M3K2_HUMAN mitogen-activated protein kinase kinase kinase 2 NA NA activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634) ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674) central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2) 7 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0706) Bosutinib(DB06616) AATCCCCCCTCTCCCTCCCAG 0.274 NA C||| 1890 0.377396 0.1959 0.5634 5008 , , NA 15636 0.6022 NA 0.3767 False NA ,,, NA NA NA 2504 0.2597 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF111105 CCDS46404.1 2q21.1 2011-06-09 ENSG00000169967 ENSG00000169967 10746 Mitogen-activated protein kinase cascade / Kinase kinase kinases 6854 protein-coding gene gene with protein product MAP/ERK kinase kinase 2 609487 MEKK2 NA 8621389, 10085062 Standard NM_006609 NM_006609 NA Approved MEKK2B uc002toj.2 Q9Y2U5 OTTHUMG00000153397 ENST00000409947.1:c.745+67G>T chr2.hg19:g.128081682C>A NA B9EG87|Q53QL9|Q53S75|Q59GZ6|Q8NC32|Q9NYK3 hg19 CCDS46404.1 0.02 6.073303 CCTxTCC COVERED NOVEL MAP3K2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000331014.1 4 15.95165 KEEP 0 0 0 53 1862 CC 1 1 0 - 12 60 413 0 0 28.198208 158 60 5859 277 ENST00000409947.1 0.070588 1 IWS1 55677 __UNKNOWN__ __UNKNOWN__ 2 128253784 128253784 __UNKNOWN__ Intron SNP T T C rs334150 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:128253784T>C ENST00000295321.4 - 7 1825 IWS1_ENST00000455721.2_Intron|AC010976.2_ENST00000599001.1_RNA NM_017969.2 NP_060439.2 Q96ST2 IWS1_HUMAN IWS1 homolog (S. cerevisiae) NA NA mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of histone H3-K36 trimethylation (GO:2001253)|regulation of histone H4 acetylation (GO:0090239)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634) DNA binding (GO:0003677) cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 28 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0735) ACATTTACTTTCACAACAATT 0.333 NA T||| 1030 0.205671 0.3805 0.1138 5008 , , NA 18367 0.2321 NA 0.0567 False NA ,,, NA NA NA 2504 0.1605 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK000868 CCDS2146.1 2q14.3 2006-03-17 ENSG00000163166 ENSG00000163166 55677 25467 protein-coding gene gene with protein product NA Standard NM_017969 NM_017969 NA Approved DKFZp761G0123, FLJ10006, FLJ14655, FLJ32319 uc002ton.2 Q96ST2 OTTHUMG00000131527 ENST00000295321.4:c.1566-60A>G chr2.hg19:g.128253784T>C NA Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8 hg19 CCDS2146.1 0.02 3.85381 CTTxCAC COVERED NOVEL IWS1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254384.2 0 9.327865 KEEP 0 0 0 31 1003 TT 0.999997 0.999997 0 - 5 60 180 0 0 11.220591 123 60 4425 164 ENST00000295321.4 0.039062 1 IWS1 55677 __UNKNOWN__ __UNKNOWN__ 2 128264246 128264246 __UNKNOWN__ Intron SNP T T C rs2078028 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:128264246T>C ENST00000486662.1 - 2 308 IWS1_ENST00000455721.2_Intron|IWS1_ENST00000295321.4_Intron Q96ST2 IWS1_HUMAN IWS1 homolog (S. cerevisiae) NA NA mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of histone H3-K36 trimethylation (GO:2001253)|regulation of histone H4 acetylation (GO:0090239)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634) DNA binding (GO:0003677) cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 28 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0735) GTACTTCTCATGATAACAAAA 0.383 NA T||| 942 0.188099 0.3185 0.1052 5008 , , NA 15140 0.2321 NA 0.0567 False NA ,,, NA NA NA 2504 0.1605 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK000868 CCDS2146.1 2q14.3 2006-03-17 ENSG00000163166 ENSG00000163166 55677 25467 protein-coding gene gene with protein product NA Standard NM_017969 NM_017969 NA Approved DKFZp761G0123, FLJ10006, FLJ14655, FLJ32319 uc002ton.2 Q96ST2 OTTHUMG00000131527 ENST00000486662.1:c.563-918A>G chr2.hg19:g.128264246T>C NA Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8 hg19 0.02 4.247359 TCAxGAT COVERED NOVEL IWS1-003 PUTATIVE basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000331074.1 1 11.988424 KEEP 0 1 11 44 1407 TT 1 1 0 - 6 60 210 0 0 13.115332 134 60 5053 250 ENST00000486662.1 0.042857 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 128284073 128284073 __UNKNOWN__ IGR SNP A A G rs17522960 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:128284073A>G NA NA IWS1 (15 upstream) : MYO7B (9304 downstream) NA NA NA TCTGCCCACGACCCTCAAAGG 0.652 NA A||| 905 0.180711 0.298 0.1023 5008 , , NA 15252 0.2321 NA 0.0557 False NA ,,, NA NA NA 2504 0.1534 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.128284073A>G NA hg19 0.02 7.208766 ACGxCCC COVERED NOVEL 0 4 28.566076 KEEP 0 0 0 95 2653 AA 1 1 0 10 60 350 0 0 23.735084 156 60 5121 301 0.060241 1 MYO7B 4648 __UNKNOWN__ __UNKNOWN__ 2 128379482 128379482 __UNKNOWN__ Intron SNP G G A rs77782292 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:128379482G>A ENST00000409816.2 + 26 3479 MYO7B_ENST00000428314.1_Intron|MYO7B_ENST00000389524.4_Intron|MYO7B_ENST00000409090.1_Intron Q6PIF6 MYO7B_HUMAN myosin VIIB NA NA extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|motor activity (GO:0003774) breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) taattcttaagtcCACCTGGG 0.493 NA G||| 74 0.0147764 0.0 0.0461 5008 , , NA 19628 0.0397 NA 0.001 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS46405.1 2q21.1 2011-09-27 ENSG00000169994 ENSG00000169994 4648 Myosins / Myosin superfamily : Class VII 7607 protein-coding gene gene with protein product 606541 NA 8022818, 8884266 Standard XM_291001 NM_001080527 NA Approved uc002top.3 Q6PIF6 OTTHUMG00000153419 ENST00000409816.2:c.3448-75G>A chr2.hg19:g.128379482G>A NA Q14786|Q8TEE1 hg19 CCDS46405.1 0.02 6.190857 TAAxTCC COVERED NOVEL MYO7B-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000331124.3 0 6.320657 KEEP 0 0 0 21 739 GG 0.999869 0.999869 0 + 9 60 319 0 0 20.960566 159 60 5993 217 ENST00000409816.2 0.053571 1 LIMS2 55679 __UNKNOWN__ __UNKNOWN__ 2 128400608 128400608 __UNKNOWN__ 5'UTR SNP C C T rs4662751 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:128400608C>T ENST00000410038.1 - 0 256 LIMS2_ENST00000409455.1_Silent_p.K128K|LIMS2_ENST00000409808.2_Silent_p.K128K|LIMS2_ENST00000324938.5_Silent_p.K157K|LIMS2_ENST00000409254.1_5'UTR|LIMS2_ENST00000409286.1_5'UTR|LIMS2_ENST00000545738.2_Silent_p.K155K|LIMS2_ENST00000409754.1_5'UTR|LIMS2_ENST00000355119.4_Silent_p.K133K|LIMS2_ENST00000410011.1_Silent_p.K128K NM_001256542.1 NP_001243471.1 Q7Z4I7 LIMS2_HUMAN LIM and senescent cell antigen-like domains 2 NA NA cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of neural precursor cell proliferation (GO:2000178)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|single organismal cell-cell adhesion (GO:0016337) cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886) zinc ion binding (GO:0008270) endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0681) TGCCCAGGCCCTTGGCCTTCT 0.652 NA C||| 2730 0.545128 0.4743 0.6527 5008 , , NA 17845 0.7113 NA 0.5427 False NA ,,, NA NA NA 2504 0.3957 NA NA NA NA 0 C ,,, 2026,2358 473,1080,639 58 44 49 465,399,384,471 4.6 1 2 dbSNP_111 49 4544,4046 1192,2160,943 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous LIMS2 NM_001136037.2,NM_001161403.1,NM_001161404.1,NM_017980.4 ,,, 1665,3240,1582 TT,TC,CC 47.1013,46.2135,49.3603 ,,, 155/364,133/342,128/337,157/366 128400608 6570,6404 2192 4295 6487 SO:0001623 5_prime_UTR_variant AF520987 CCDS2147.1, CCDS54394.1, CCDS54395.1, CCDS54396.1, CCDS58725.1 2q21.1 2008-02-05 ENSG00000072163 ENSG00000072163 55679 16084 protein-coding gene gene with protein product 607908 NA Standard NM_017980 NM_017980 NA Approved uc002tox.3 Q7Z4I7 OTTHUMG00000131529 ENST00000410038.1:c.-58G>A chr2.hg19:g.128400608C>T NA A6NLH0|B4DMV1|F5H6E6|Q7Z4I2|Q7Z4I6|Q7Z4I8|Q8NFE7|Q9HA13 hg19 CCDS58725.1 0.02 4.420829 GCCxTTG COVERED NOVEL LIMS2-006 PUTATIVE alternative_5_UTR|basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000331115.1 0 5.249136 KEEP 0 1 27 27 941 CC 0.999997 0.999997 0 - 7 60 250 0 0 16.212003 136 60 5112 209 ENST00000410038.1 0.048951 1 LIMS2 55679 __UNKNOWN__ __UNKNOWN__ 2 128400992 128400992 __UNKNOWN__ Intron SNP A A G rs2244513 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:128400992A>G ENST00000410038.1 - 2 217 LIMS2_ENST00000409455.1_Intron|LIMS2_ENST00000409808.2_Intron|LIMS2_ENST00000324938.5_Intron|LIMS2_ENST00000409254.1_Intron|LIMS2_ENST00000545738.2_Intron|LIMS2_ENST00000409754.1_Intron|LIMS2_ENST00000355119.4_Intron|LIMS2_ENST00000410011.1_Intron NM_001256542.1 NP_001243471.1 Q7Z4I7 LIMS2_HUMAN LIM and senescent cell antigen-like domains 2 NA NA cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of neural precursor cell proliferation (GO:2000178)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|single organismal cell-cell adhesion (GO:0016337) cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886) zinc ion binding (GO:0008270) endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0681) TTCCCAATGTATTTAACACAC 0.468 NA A||| 725 0.144768 0.121 0.1182 5008 , , NA 20623 0.1607 NA 0.167 False NA ,,, NA NA NA 2504 0.1564 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF520987 CCDS2147.1, CCDS54394.1, CCDS54395.1, CCDS54396.1, CCDS58725.1 2q21.1 2008-02-05 ENSG00000072163 ENSG00000072163 55679 16084 protein-coding gene gene with protein product 607908 NA Standard NM_017980 NM_017980 NA Approved uc002tox.3 Q7Z4I7 OTTHUMG00000131529 ENST00000410038.1:c.97-345T>C chr2.hg19:g.128400992A>G NA A6NLH0|B4DMV1|F5H6E6|Q7Z4I2|Q7Z4I6|Q7Z4I8|Q8NFE7|Q9HA13 hg19 CCDS58725.1 0.02 9.850136 TGTxTTT COVERED NOVEL LIMS2-006 PUTATIVE alternative_5_UTR|basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000331115.1 1 8.67958 KEEP 0 0 0 29 880 AA 0.999997 0.999997 0 - 17 60 640 0 0 45.852783 211 60 7509 293 ENST00000410038.1 0.074561 1 LIMS2 55679 __UNKNOWN__ __UNKNOWN__ 2 128401553 128401553 __UNKNOWN__ Intron SNP A A G rs2288658 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:128401553A>G ENST00000410038.1 - 2 217 LIMS2_ENST00000409455.1_Intron|LIMS2_ENST00000409808.2_Intron|LIMS2_ENST00000324938.5_Intron|LIMS2_ENST00000409254.1_Intron|LIMS2_ENST00000545738.2_Intron|LIMS2_ENST00000409754.1_Intron|LIMS2_ENST00000355119.4_Intron|LIMS2_ENST00000410011.1_Intron NM_001256542.1 NP_001243471.1 Q7Z4I7 LIMS2_HUMAN LIM and senescent cell antigen-like domains 2 NA NA cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of neural precursor cell proliferation (GO:2000178)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|single organismal cell-cell adhesion (GO:0016337) cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886) zinc ion binding (GO:0008270) endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0681) AAGAGATCCAATCGCAGACCC 0.652 NA A||| 265 0.0529153 0.0098 0.0879 5008 , , NA 17035 0.0377 NA 0.1262 False NA ,,, NA NA NA 2504 0.0266 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF520987 CCDS2147.1, CCDS54394.1, CCDS54395.1, CCDS54396.1, CCDS58725.1 2q21.1 2008-02-05 ENSG00000072163 ENSG00000072163 55679 16084 protein-coding gene gene with protein product 607908 NA Standard NM_017980 NM_017980 NA Approved uc002tox.3 Q7Z4I7 OTTHUMG00000131529 ENST00000410038.1:c.97-906T>C chr2.hg19:g.128401553A>G NA A6NLH0|B4DMV1|F5H6E6|Q7Z4I2|Q7Z4I6|Q7Z4I8|Q8NFE7|Q9HA13 hg19 CCDS58725.1 0.02 8.943096 CCAxTCG COVERED NOVEL LIMS2-006 PUTATIVE alternative_5_UTR|basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000331115.1 0 14.442885 KEEP 0 0 0 48 1498 AA 1 1 0 - 10 60 376 0 0 24.535148 219 60 7728 359 ENST00000410038.1 0.043668 1 SAP130 79595 __UNKNOWN__ __UNKNOWN__ 2 128744580 128744580 __UNKNOWN__ Intron SNP A A G rs2948068 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:128744580A>G ENST00000259234.6 - 14 1967 SAP130_ENST00000259235.3_Intron|SAP130_ENST00000357702.5_Intron Q9H0E3 SP130_HUMAN Sin3A-associated protein, 130kDa NA NA chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634)|STAGA complex (GO:0030914) transcription coactivator activity (GO:0003713) NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2) 45 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0771) AGAGAGGGAAACAAAATGCCA 0.418 NA A||| 3521 0.703075 0.4682 0.8112 5008 , , NA 21706 0.7212 NA 0.8926 False NA ,,, NA NA NA 2504 0.7301 NA NA NA NA 0 A , 2247,2159 589.2+/-387.1 613,1021,569 37 35 36 , 2.9 0 2 dbSNP_101 36 7598,1002 766.2+/-407.6 3368,862,70 no intron,intron SAP130 NM_001145928.1,NM_024545.3 , 3981,1883,639 GG,GA,AA 11.6512,49.0014,24.3042 , , 128744580 9845,3161 2203 4300 6503 SO:0001627 intron_variant BC017453 CCDS2153.1, CCDS54397.1 2q14.3 2008-02-05 2006-02-02 ENSG00000136715 ENSG00000136715 79595 29813 protein-coding gene gene with protein product 609697 sin3A-associated protein, 130kDa NA 11230166, 12724404 Standard NM_024545 NM_001145928 NA Approved FLJ12761 uc010fmd.2 Q9H0E3 OTTHUMG00000131571 ENST00000259234.6:c.1781-47T>C chr2.hg19:g.128744580A>G NA B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8 hg19 0.02 7.314775 GAAxCAA COVERED NOVEL SAP130-002 KNOWN alternative_5_UTR|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000254437.3 3 8.962303 KEEP 0 1 35 42 1318 AA 1 1 0 - 9 60 349 0 0 24.052584 155 60 5524 255 ENST00000259234.6 0.054878 1 HS6ST1 9394 __UNKNOWN__ __UNKNOWN__ 2 129023282 129023282 __UNKNOWN__ 3'UTR SNP G G C rs151306983 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:129023282G>C ENST00000259241.6 - 0 3703 NM_004807.2 NP_004798.3 O60243 H6ST1_HUMAN heparan sulfate 6-O-sulfotransferase 1 NA NA angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|labyrinthine layer blood vessel development (GO:0060716)|lung alveolus development (GO:0048286)|neuron development (GO:0048666)|small molecule metabolic process (GO:0044281) Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887) heparan sulfate 6-O-sulfotransferase activity (GO:0017095)|sulfotransferase activity (GO:0008146) endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1) 15 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.117) GCCTTGTTTTGTGGGCAGTTC 0.458 NA g||| 1448 0.289137 0.0416 0.3646 5008 , , NA 18290 0.7639 NA 0.1581 False NA ,,, NA NA NA 2504 0.2157 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB006179 CCDS42748.1 2q21 2010-03-19 2002-08-23 ENSG00000136720 ENSG00000136720 9394 Sulfotransferases, membrane-bound 5201 protein-coding gene gene with protein product 604846 HS6ST NA 9535912 Standard NM_004807 NM_004807 NA Approved uc002tpt.4 O60243 OTTHUMG00000153542 ENST00000259241.6:c.*2454C>G chr2.hg19:g.129023282G>C NA B4DEP2|B4DJ29|Q53SL2|Q9BVI1 hg19 CCDS42748.1 0.02 17.417024 TTTxTGG COVERED NOVEL HS6ST1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000331572.1 4 19.564488 KEEP 80 0 0 65 2361 GG 1 1 0 - 19 60 726 0 0 48.762427 368 60 13976 645 ENST00000259241.6 0.049096 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 129275717 129275717 __UNKNOWN__ IGR SNP C C T rs111341222 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:129275717C>T NA NA RNA5SP103 (72945 upstream) : AC012451.1 (62347 downstream) NA NA NA GAATCAAAGTCAGCTTGAGAT 0.443 NA C||| 503 0.100439 0.0802 0.1715 5008 , , NA 16880 0.0685 NA 0.1064 False NA ,,, NA NA NA 2504 0.1043 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.129275717C>T NA hg19 0.02 10.42546 AGTxAGC COVERED NOVEL 0 5 13.543828 KEEP 13 0 0 45 1588 CC 1 1 0 10 49 354 0 0 21.205259 287 50 11134 446 0.03367 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 129275756 129275756 __UNKNOWN__ IGR SNP C C T rs73956025 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:129275756C>T NA NA RNA5SP103 (72984 upstream) : AC012451.1 (62308 downstream) NA NA NA TATAGGGTGGCAAAAGAAATG 0.398 NA C||| 502 0.10024 0.0802 0.1715 5008 , , NA 18210 0.0675 NA 0.1064 False NA ,,, NA NA NA 2504 0.1043 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.129275756C>T NA hg19 0.02 11.958038 TGGxAAA COVERED NOVEL 0 4 14.7487 KEEP 10 0 0 49 1789 CC 1 1 0 9 49 319 0 0 18.446186 307 50 11806 471 0.028481 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 129275926 129275926 __UNKNOWN__ IGR SNP G G A rs705062 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:129275926G>A NA NA RNA5SP103 (73154 upstream) : AC012451.1 (62138 downstream) NA NA NA TAAAAAGGCTGTGTTAAGTTT 0.398 NA A||| 1562 0.311901 0.649 0.2651 5008 , , NA 18421 0.0952 NA 0.2167 False NA ,,, NA NA NA 2504 0.2106 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.129275926G>A NA hg19 0.02 11.961778 GCTxTGT COVERED NOVEL 0 0 7.659866 KEEP 0 1 30 36 1301 GG 1 1 0 11 60 398 0 0 24.158974 316 60 11988 421 0.033639 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 129276101 129276101 __UNKNOWN__ IGR SNP C C T rs57454204 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:129276101C>T NA NA RNA5SP103 (73329 upstream) : AC012451.1 (61963 downstream) NA NA NA AAACAAGTGCCCAGGAAGGCA 0.443 NA C||| 502 0.10024 0.0802 0.1715 5008 , , NA 19232 0.0675 NA 0.1064 False NA ,,, NA NA NA 2504 0.1043 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.129276101C>T NA hg19 0.02 22.258723 TGCxCAG COVERED NOVEL 0 3 13.479979 KEEP 0 1 35 57 2014 CC 1 1 0 20 60 740 0 0 47.021603 484 60 17444 652 0.039683 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 129276233 129276233 __UNKNOWN__ IGR SNP A A T rs386650293|rs2247926 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:129276233A>T NA NA RNA5SP103 (73461 upstream) : AC012451.1 (61831 downstream) NA NA NA CTAGAATCCAATACACTGGCT 0.383 NA A||| 1409 0.28135 0.5416 0.2536 5008 , , NA 19679 0.0942 NA 0.2167 False NA ,,, NA NA NA 2504 0.2086 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.129276233A>T NA hg19 0.02 15.236568 CCAxTAC COVERED NOVEL 0 1 8.726121 KEEP 0 0 0 29 912 AA 0.999997 0.999997 0 29 60 1038 0 0 74.187311 322 60 11750 439 0.082621 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 129276720 129276720 __UNKNOWN__ IGR SNP T T C rs841094 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:129276720T>C NA NA RNA5SP103 (73948 upstream) : AC012451.1 (61344 downstream) NA NA NA GCTCACAGCCTGGACAGTTGC 0.602 NA C||| 1912 0.381789 0.8782 0.2954 5008 , , NA 15608 0.0942 NA 0.2366 False NA ,,, NA NA NA 2504 0.2178 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.129276720T>C NA hg19 0.02 4.582393 GCCxGGA COVERED NOVEL 0 1 12.035123 KEEP 1 0 0 40 1224 TT 1 1 0 5 60 189 0 0 11.986387 131 60 4789 207 0.036765 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 130253977 130253977 __UNKNOWN__ IGR SNP T T G rs34242261 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:130253977T>G NA NA snoU13 (68879 upstream) : AC079776.1 (372788 downstream) NA NA NA AAAACTTTTGTGCTCTGAGCA 0.458 NA T||| 1679 0.335264 0.0915 0.3732 5008 , , NA 20342 0.374 NA 0.5318 False NA ,,, NA NA NA 2504 0.3957 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.130253977T>G NA hg19 0.02 4.34042 TTGxGCT COVERED NOVEL 0 1 3.6101 KEEP 0 0 0 12 367 TT 0.993634 0.993632 0 5 60 180 0 0 11.401199 113 60 4089 142 0.042373 0.999998 AC079776.7 0 __UNKNOWN__ __UNKNOWN__ 2 130724285 130724285 __UNKNOWN__ RNA SNP A A G rs558029905 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:130724285A>G ENST00000412425.1 - 0 2333 NR_036537.1 NA NA NA GTATTAAGAAATCGGGTTTGA 0.333 NA .||| 4 0.000798722 0.0 0.0 5008 , , NA 21092 0.004 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000412425.1: chr2.hg19:g.130724285A>G NA hg19 0.02 7.274251 GAAxTCG COVERED NOVEL AC079776.7-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000331383.1 1 5.415491 KEEP 20 0 0 18 575 AA 0.99649 0.99649 0 - 11 60 426 0 0 29.843558 170 60 6288 270 ENST00000412425.1 0.060773 1 MZT2B 80097 __UNKNOWN__ __UNKNOWN__ 2 130941318 130941318 __UNKNOWN__ Intron SNP T T C rs114537426 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:130941318T>C ENST00000409255.1 + 3 345 MZT2B_ENST00000281871.6_Intron|MZT2B_ENST00000491178.1_Intron Q6NZ67 MZT2B_HUMAN mitotic spindle organizing protein 2B NA NA centrosome (GO:0005813)|gamma-tubulin ring complex (GO:0008274)|spindle (GO:0005819) lung(1) 1 TTCACTGACCTTCGCTCTGTC 0.637 NA .||| 56 0.0111821 0.0015 0.0072 5008 , , NA 15432 0.0139 NA 0.0268 False NA ,,, NA NA NA 2504 0.0082 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC066296 CCDS2157.1 2q21.1 2013-10-11 2010-07-22 2010-07-22 ENSG00000152082 ENSG00000152082 80097 25886 protein-coding gene gene with protein product mitotic-spindle organizing protein associated with a ring of gamma-tubulin 2B 613450 family with sequence similarity 128, member B FAM128B NA 20360068 Standard NM_025029 NM_025029 NA Approved FLJ14346, MOZART2B uc002tqu.3 Q6NZ67 OTTHUMG00000131625 ENST00000409255.1:c.320-42T>C chr2.hg19:g.130941318T>C NA Q96CG4 hg19 0.02 1.852523 ACCxTCG COVERED NOVEL MZT2B-003 NOVEL not_organism_supported|basic|appris_candidate_longest|exp_conf protein_coding NA protein_coding OTTHUMT00000332319.1 2 12.635629 KEEP 0 0 0 42 1319 TT 1 0.999559 0 + 4 60 141 0 0 9.031592 80 60 2834 140 ENST00000409255.1 0.047619 0.999559 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 131026443 131026443 __UNKNOWN__ IGR SNP A A G rs376333292 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:131026443A>G NA NA AC018804.7 (36764 upstream) : CCDC115 (69370 downstream) NA NA NA TGACAACAACACTCCCCTCTC 0.597 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.131026443A>G NA hg19 0.02 -0.42109 AACxCTC COVERED NOVEL 0 0 2.707043 KEEP 9 0 0 9 268 AA 0.99254 0.941327 0 6 27 182 0 0 13.212302 42 60 1516 74 0.125 0.948402 PTPN18 26469 __UNKNOWN__ __UNKNOWN__ 2 131119642 131119642 __UNKNOWN__ Intron SNP A A G rs7560297 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:131119642A>G ENST00000175756.5 + 5 515 PTPN18_ENST00000420717.1_Intron|PTPN18_ENST00000347849.3_Intron NM_014369.3 NP_055184.2 Q99952 PTN18_HUMAN protein tyrosine phosphatase, non-receptor type 18 (brain-derived) NA NA peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470) cytoplasm (GO:0005737)|nucleus (GO:0005634) non-membrane spanning protein tyrosine phosphatase activity (GO:0004726) endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1) 15 Colorectal(110;0.1) ctgggctcaaatgatcatgct 0.428 NA a||| 619 0.123602 0.3185 0.0317 5008 , , NA 17560 0.1677 NA 0.0 False NA ,,, NA NA NA 2504 0.0072 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X79568 CCDS2161.1, CCDS46410.1 2q21 2011-06-09 ENSG00000072135 ENSG00000072135 26469 Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor 9649 protein-coding gene gene with protein product 606587 NA 8950995 Standard NM_014369 NA Approved BDP1 uc002trc.3 Q99952 OTTHUMG00000131630 ENST00000175756.5:c.414+2423A>G chr2.hg19:g.131119642A>G NA B4E1E6|Q53P42 hg19 CCDS2161.1 0.02 4.397028 CAAxTGA COVERED NOVEL PTPN18-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254523.2 1 7.824287 KEEP 0 0 0 26 842 AA 0.999957 0.999956 0 + 6 60 196 0 0 12.071309 117 60 4261 191 ENST00000175756.5 0.04878 0.999999 PTPN18 26469 __UNKNOWN__ __UNKNOWN__ 2 131128207 131128207 __UNKNOWN__ Intron SNP G G A rs76105048 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:131128207G>A ENST00000175756.5 + 9 857 PTPN18_ENST00000347849.3_Intron NM_014369.3 NP_055184.2 Q99952 PTN18_HUMAN protein tyrosine phosphatase, non-receptor type 18 (brain-derived) NA NA peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470) cytoplasm (GO:0005737)|nucleus (GO:0005634) non-membrane spanning protein tyrosine phosphatase activity (GO:0004726) endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1) 15 Colorectal(110;0.1) GTACGATACAGGCATCCTGTG 0.562 NA G||| 207 0.0413339 0.0219 0.0 5008 , , NA 18788 0.1657 NA 0.0 False NA ,,, NA NA NA 2504 0.0112 NA NA NA NA 0 G , 108,4298 84.4+/-122.9 2,104,2097 215 160 179 , -0.3 0 2 dbSNP_131 179 2,8598 2.2+/-6.3 0,2,4298 no intron,intron PTPN18 NM_001142370.1,NM_014369.3 , 2,106,6395 AA,AG,GG 0.0233,2.4512,0.8458 , , 131128207 110,12896 2203 4300 6503 SO:0001627 intron_variant X79568 CCDS2161.1, CCDS46410.1 2q21 2011-06-09 ENSG00000072135 ENSG00000072135 26469 Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor 9649 protein-coding gene gene with protein product 606587 NA 8950995 Standard NM_014369 NA Approved BDP1 uc002trc.3 Q99952 OTTHUMG00000131630 ENST00000175756.5:c.756+11G>A chr2.hg19:g.131128207G>A NA B4E1E6|Q53P42 hg19 CCDS2161.1 0.02 11.211854 ACAxGCA COVERED NOVEL PTPN18-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254523.2 0 24.076944 KEEP 0 0 0 80 2802 GG 1 1 0 + 11 60 398 0 0 24.80224 276 60 10365 435 ENST00000175756.5 0.038328 1 PTPN18 26469 __UNKNOWN__ __UNKNOWN__ 2 131130678 131130678 __UNKNOWN__ Intron SNP T T C rs10189689 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:131130678T>C ENST00000175756.5 + 15 1416 PTPN18_ENST00000347849.3_Intron NM_014369.3 NP_055184.2 Q99952 PTN18_HUMAN protein tyrosine phosphatase, non-receptor type 18 (brain-derived) NA NA peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470) cytoplasm (GO:0005737)|nucleus (GO:0005634) non-membrane spanning protein tyrosine phosphatase activity (GO:0004726) endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1) 15 Colorectal(110;0.1) GTCTGCCAGCTTCCACACACC 0.622 NA OREG0014978 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) C||| 1726 0.344649 0.6324 0.2378 5008 , , NA 16297 0.3214 NA 0.2008 False NA ,,, NA NA NA 2504 0.2035 NA NA NA NA 0 C , 1775,1361 497,781,290 28 30 29 , 0.1 0 2 dbSNP_119 29 1455,5709 145,1165,2272 no intron,intron PTPN18 NM_001142370.1,NM_014369.3 , 642,1946,2562 CC,CT,TT 20.3099,43.3992,31.3592 , , 131130678 3230,7070 1568 3582 5150 SO:0001627 intron_variant X79568 CCDS2161.1, CCDS46410.1 2q21 2011-06-09 ENSG00000072135 ENSG00000072135 26469 Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor 9649 protein-coding gene gene with protein product 606587 NA 8950995 Standard NM_014369 NA Approved BDP1 uc002trc.3 Q99952 OTTHUMG00000131630 ENST00000175756.5:c.1316-52T>C chr2.hg19:g.131130678T>C 1585 B4E1E6|Q53P42 hg19 CCDS2161.1 0.02 4.088211 AGCxTCC COVERED NOVEL PTPN18-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254523.2 1 3.576862 KEEP 0 2 75 38 1100 TT 1 0.999999 0 + 5 60 189 0 0 12.189212 119 60 4254 177 ENST00000175756.5 0.040323 0.999999 PTPN18 26469 __UNKNOWN__ __UNKNOWN__ 2 131130830 131130830 __UNKNOWN__ 3'UTR SNP T T G rs75768489 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:131130830T>G ENST00000175756.5 + 0 1517 PTPN18_ENST00000347849.3_3'UTR NM_014369.3 NP_055184.2 Q99952 PTN18_HUMAN protein tyrosine phosphatase, non-receptor type 18 (brain-derived) NA NA peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470) cytoplasm (GO:0005737)|nucleus (GO:0005634) non-membrane spanning protein tyrosine phosphatase activity (GO:0004726) endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1) 15 Colorectal(110;0.1) TTGCCTCTTGTGAGCTCGGAC 0.597 NA T||| 209 0.0417332 0.0212 0.0 5008 , , NA 18985 0.1687 NA 0.0 False NA ,,, NA NA NA 2504 0.0112 NA NA NA NA 0 T , 107,4297 2,103,2097 28 26 27 , -9.3 0 2 dbSNP_131 27 1,8589 0,1,4294 no utr-3,utr-3 PTPN18 NM_001142370.1,NM_014369.3 , 2,104,6391 GG,GT,TT 0.0116,2.4296,0.8312 , , 131130830 108,12886 2202 4295 6497 SO:0001624 3_prime_UTR_variant X79568 CCDS2161.1, CCDS46410.1 2q21 2011-06-09 ENSG00000072135 ENSG00000072135 26469 Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor 9649 protein-coding gene gene with protein product 606587 NA 8950995 Standard NM_014369 NA Approved BDP1 uc002trc.3 Q99952 OTTHUMG00000131630 ENST00000175756.5:c.*33T>G chr2.hg19:g.131130830T>G NA B4E1E6|Q53P42 hg19 CCDS2161.1 0.02 24.930804 TTGxGAG COVERED NOVEL PTPN18-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254523.2 5 64.99122 KEEP 0 0 0 216 6650 TT 1 1 0 + 19 60 674 0 0 40.687359 555 60 20217 1049 ENST00000175756.5 0.033101 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 132860781 132860781 __UNKNOWN__ IGR SNP C C A rs200449203 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:132860781C>A NA NA RP1-156L9.1 (109047 upstream) : ANKRD30BL (44382 downstream) NA NA NA TTTAAACAATCCTCAAAACTG 0.363 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.132860781C>A NA hg19 0.02 6.449021 AATxCTC COVERED NOVEL 0 3 3.516452 KEEP 7 3 98 46 1593 CC 1 1 0 13 49 453 0 0 32.428107 134 60 5055 317 0.088435 1 ANKRD30BL 554226 __UNKNOWN__ __UNKNOWN__ 2 132937109 132937109 __UNKNOWN__ Intron SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:132937109G>A ENST00000470729.1 - 2 441 NR_027020.2 A7E2S9 A30BL_HUMAN ankyrin repeat domain 30B-like NA NA endometrium(1)|kidney(3) 4 tgatcctcccgcctcagcctc 0.448 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant 2q21.2 2013-01-22 2010-06-14 2010-06-14 ENSG00000163046 ENSG00000163046 554226 Ankyrin repeat domain containing 35167 protein-coding gene gene with protein product non-protein coding RNA 164, ankyrin repeat domain 30B pseudogene 3 NCRNA00164, ANKRD30BP3 NA 17114284 Standard NR_027019 NR_027019 NA Approved uc002tti.3 A7E2S9 OTTHUMG00000153491 ENST00000470729.1:c.985-22390C>T chr2.hg19:g.132937109G>A NA B8ZZL7 hg19 0.02 -0.070184 CCCxCCT UNCOVERED NOVEL ANKRD30BL-002 KNOWN basic processed_transcript NA protein_coding OTTHUMT00000331354.1 1 2.407946 KEEP 6 0 0 8 290 GG 0 0 0 - 3 24 111 0 0 10.455337 4 31 140 27 ENST00000470729.1 0.428571 0.054137 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 133016909 133016909 __UNKNOWN__ IGR SNP C C G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:133016909C>G NA NA ANKRD30BL (1367 upstream) : AC097532.2 (26458 downstream) NA NA NA ACGTCTTAACCACACACCCAT 0.537 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.133016909C>G NA hg19 0.02 8.386935 AACxACA COVERED NOVEL 0 49 180.304167 KEEP 20 5 165 657 22472 CC 1 1 0 6 48 196 0 0 15.122136 34 60 1173 1826 0.15 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 133019322 133019322 __UNKNOWN__ IGR SNP G G A rs10153835 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:133019322G>A NA NA ANKRD30BL (3780 upstream) : AC097532.2 (24045 downstream) NA NA NA CACAGCACAAGTACCTAATCA 0.388 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.133019322G>A NA hg19 0.02 4.42591 CAAxTAC COVERED NOVEL 0 1 2.70892 KEEP 1 0 0 9 326 GG 0.99254 0.99254 0 11 60 392 0 0 36.52208 16 60 605 151 0.407407 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 133019578 133019578 __UNKNOWN__ IGR SNP C C G rs112681737 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:133019578C>G NA NA ANKRD30BL (4036 upstream) : AC097532.2 (23789 downstream) NA NA NA GGAGGACCAGCAGCTCTTAGT 0.393 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.133019578C>G NA hg19 0.02 38.353676 CAGxAGC COVERED NOVEL 0 20 39.789145 KEEP 18 10 343 252 9165 CC 1 1 0 19 60 723 0 0 69.345523 21 60 775 1404 0.475 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 133019948 133019948 __UNKNOWN__ IGR SNP T T A rs148551384 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:133019948T>A NA NA ANKRD30BL (4406 upstream) : AC097532.2 (23419 downstream) NA NA NA AAATTAAAAATGAAGTTTCCA 0.368 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.133019948T>A NA hg19 0.02 21.10062 AAAxGAA COVERED NOVEL 0 70 9.562324 KEEP 15 1 29 42 1332 TT 1 1 0 10 60 372 0 0 32.602576 27 60 960 640 0.27027 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 133020059 133020059 __UNKNOWN__ IGR SNP C C T rs113975411 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:133020059C>T NA NA ANKRD30BL (4517 upstream) : AC097532.2 (23308 downstream) NA NA NA TTGGACTCTTCCATCATTTCA 0.353 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.133020059C>T NA hg19 0.02 37.082416 CTTxCAT COVERED NOVEL 0 17 15.720644 KEEP 27 8 238 136 4684 CC 1 1 0 22 60 794 0 0 75.788841 25 60 960 1197 0.468085 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 133020304 133020304 __UNKNOWN__ IGR SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:133020304C>T NA NA ANKRD30BL (4762 upstream) : AC097532.2 (23063 downstream) NA NA NA AGAGTACATGCAAGCTGAAAG 0.373 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.133020304C>T NA hg19 0.02 6.890966 ATGxAAG COVERED NOVEL 0 6 17.454194 KEEP 1 0 0 58 2066 CC 1 1 0 5 60 176 0 0 14.115952 25 60 921 928 0.166667 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 133020539 133020539 __UNKNOWN__ IGR SNP A A G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:133020539A>G NA NA ANKRD30BL (4997 upstream) : AC097532.2 (22828 downstream) NA NA NA GAGCTATCCAAGTGGATCCAA 0.408 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.133020539A>G NA hg19 0.02 15.96472 CCAxGTG COVERED NOVEL 0 1 2.241229 KEEP 3 1 36 20 599 AA 0.999869 0.999869 0 11 60 397 0 0 29.380768 100 60 3640 399 0.099099 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 133020801 133020801 __UNKNOWN__ IGR SNP T T C rs112432912 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:133020801T>C NA NA ANKRD30BL (5259 upstream) : AC097532.2 (22566 downstream) NA NA NA GGTCAATAACTTCAAACTAAC 0.313 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.133020801T>C NA hg19 0.02 18.971031 AACxTCA COVERED NOVEL 0 22 4.750101 KEEP 6 1 38 29 918 TT 0.999997 0.999997 0 28 60 1079 0 0 85.894412 175 60 6152 508 0.137931 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 133029040 133029040 __UNKNOWN__ IGR SNP G G C rs201865616 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:133029040G>C NA NA ANKRD30BL (13498 upstream) : AC097532.2 (14327 downstream) NA NA NA cagagagagagagacagacag 0.458 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.133029040G>C NA hg19 0.02 4.762645 AGAxAGA COVERED NOVEL 0 18 4.685551 KEEP 23 2 70 40 1354 GG 0.999998 0.999979 0 4 40 154 0 0 12.072935 28 60 1035 165 0.125 0.999981 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 133030078 133030078 __UNKNOWN__ IGR SNP T T C rs113730567 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:133030078T>C NA NA ANKRD30BL (14536 upstream) : AC097532.2 (13289 downstream) NA NA NA tgtggtggtgtgcgcccgtaa 0.532 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.133030078T>C NA hg19 0.02 2.003513 GTGxGCG COVERED NOVEL 0 24 5.388861 KEEP 13 0 0 18 527 TT 0.992708 0.991708 0 3 60 97 0 0 11.129985 0 0 0 110 1 0.998993 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 133034054 133034054 __UNKNOWN__ IGR SNP G G A rs2176439 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:133034054G>A NA NA ANKRD30BL (18512 upstream) : AC097532.2 (9313 downstream) NA NA NA tccaccctgggcgtcaagagt 0.468 NA .||| 3679 0.734625 0.4554 0.6542 5008 , , NA 12260 0.8938 NA 0.9165 False NA ,,, NA NA NA 2504 0.818 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.133034054G>A NA hg19 0.02 8.238764 TGGxCGT COVERED NOVEL 0 6 18.960907 KEEP 6 0 0 63 2259 GG 1 1 0 5 60 167 0 0 17.26649 2 58 61 418 0.714286 1 NCKAP5 344148 __UNKNOWN__ __UNKNOWN__ 2 133489442 133489442 __UNKNOWN__ Missense_Mutation SNP G G A rs375675565 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:133489442G>A ENST00000409261.1 - 17 5684 c.5311C>T c.(5311-5313)Cgt>Tgt p.R1771C NCKAP5_ENST00000405974.3_Missense_Mutation_p.R452C|NCKAP5_ENST00000409213.1_Missense_Mutation_p.R452C|NCKAP5_ENST00000317721.6_Missense_Mutation_p.R1771C NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 1771 NA NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 GGCACTTCACGTTCAAGGGTT 0.587 NA NA NA NA NA NA NA NA NA NA NA 0 G CYS/ARG,CYS/ARG 1,4159 0,1,2079 100 106 104 5311,1354 4.3 1 2 104 0,8416 0,0,4208 no missense,missense NCKAP5 NM_207363.2,NM_207481.3 180,180 0,1,6287 AA,AG,GG 0.0,0.024,0.0080 probably-damaging,probably-damaging 1771/1910,452/591 133489442 1,12575 2080 4208 6288 SO:0001583 missense AB005217 CCDS46417.1, CCDS46418.1 2q21.2 2010-02-17 ENSG00000176771 ENSG00000176771 344148 29847 protein-coding gene gene with protein product Nck associated protein 5, peripheral clock protein 608789 NA 9344857 Standard NM_207481 NM_207363 NA Approved NAP5, ERIH1, ERIH2 uc002ttp.3 O14513 OTTHUMG00000153573 ENST00000409261.1:c.5311C>T chr2.hg19:g.133489442G>A ENSP00000387128:p.Arg1771Cys NA B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3 hg19 CCDS46418.1 0.02 19.82791 CACxTTC COVERED . . . . . . . . . . G 20.5 3.999393 0.74818 2.4E-4 0.0 ENSG00000176771 ENST00000409261;ENST00000409213;ENST00000317721;ENST00000405974;ENST00000537661 T;T;T;T 0.55588 2.52;0.51;2.52;0.51 5.2 4.31 0.51392 . 0.000000 0.29451 U 0.012120 T 0.60919 0.2306 L 0.32530 0.975 0.32490 N 0.540343 D;D 0.89917 0.999;1.0 P;D 0.69824 0.862;0.966 T 0.70985 -0.4723 10 0.87932 D 0 . 13.6092 0.62065 0.0:0.0:0.8449:0.1551 . 452;1771 O14513-2;O14513 .;NCKP5_HUMAN C 1771;452;1771;452;452 ENSP00000387128:R1771C;ENSP00000386952:R452C;ENSP00000380603:R1771C;ENSP00000385692:R452C ENSP00000380603:R1771C R - 1 0 NCKAP5 133205912 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 1.369000 0.34227 1.419000 0.47118 0.655000 0.94253 CGT NOVEL NCKAP5-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000331663.1 2 16.548913 KEEP 0 0 0 55 1886 GG 1 1 0 - 22 60 808 0 0 53.118277 430 60 14882 601 ENST00000409261.1 0.048673 1 NCKAP5 344148 __UNKNOWN__ __UNKNOWN__ 2 134060719 134060719 __UNKNOWN__ Intron SNP T T C rs386650763|rs7604084 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:134060719T>C ENST00000409261.1 - 4 443 NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Intron NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 NA NA NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 AAACTCACTATGACAGTCCCC 0.443 NA C||| 862 0.172125 0.3238 0.0994 5008 , , NA 16383 0.119 NA 0.1044 False NA ,,, NA NA NA 2504 0.1431 NA NA NA NA 0 C , 1024,2948 138,748,1100 67 67 67 , -2.2 0 2 dbSNP_116 67 954,7382 57,840,3271 no intron,intron NCKAP5 NM_207363.2,NM_207481.3 , 195,1588,4371 CC,CT,TT 11.4443,25.7805,16.0708 , , 134060719 1978,10330 1986 4168 6154 SO:0001627 intron_variant AB005217 CCDS46417.1, CCDS46418.1 2q21.2 2010-02-17 ENSG00000176771 ENSG00000176771 344148 29847 protein-coding gene gene with protein product Nck associated protein 5, peripheral clock protein 608789 NA 9344857 Standard NM_207481 NM_207363 NA Approved NAP5, ERIH1, ERIH2 uc002ttp.3 O14513 OTTHUMG00000153573 ENST00000409261.1:c.70-37A>G chr2.hg19:g.134060719T>C NA B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3 hg19 CCDS46418.1 0.02 15.041534 CTAxGAC COVERED NOVEL NCKAP5-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000331663.1 0 15.346925 KEEP 0 0 0 51 1621 TT 1 1 0 - 26 60 921 0 0 62.85925 370 60 13709 549 ENST00000409261.1 0.065657 1 MGAT5 4249 __UNKNOWN__ __UNKNOWN__ 2 135099144 135099144 __UNKNOWN__ Intron SNP G G A rs2290047 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:135099144G>A ENST00000409645.1 + 8 1059 MGAT5_ENST00000281923.2_Intron Q09328 MGT5A_HUMAN mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase NA NA cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279) extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021) alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3) 36 BRCA - Breast invasive adenocarcinoma(221;0.0964) ATCAGTATATGCCTCTTTGTT 0.433 NA G||| 474 0.0946486 0.0303 0.2205 5008 , , NA 19712 0.2192 NA 0.004 False NA ,,, NA NA NA 2504 0.0573 NA NA NA NA 0 G 179,4227 115.4+/-153.4 1,177,2025 107 96 100 2.6 0 2 dbSNP_100 100 68,8532 40.8+/-97.7 1,66,4233 no intron MGAT5 NM_002410.3 2,243,6258 AA,AG,GG 0.7907,4.0626,1.8991 135099144 247,12759 2203 4300 6503 SO:0001627 intron_variant D17716 CCDS2171.1 2q21 2013-02-25 ENSG00000152127 ENSG00000152127 4249 2.4.1.155 Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases 7049 protein-coding gene gene with protein product 601774 NA 8292036 Standard NM_002410 NM_002410 NA Approved GNT-V uc002ttw.4 Q09328 OTTHUMG00000131681 ENST00000409645.1:c.808-17G>A chr2.hg19:g.135099144G>A NA D3DP70 hg19 CCDS2171.1 0.02 6.313287 TATxCCT COVERED NOVEL MGAT5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254584.3 1 8.126119 KEEP 0 0 0 27 927 GG 0.999988 0.999988 0 + 7 60 254 0 0 16.378062 147 60 5520 189 ENST00000409645.1 0.045455 1 MGAT5 4249 __UNKNOWN__ __UNKNOWN__ 2 135160755 135160755 __UNKNOWN__ Intron SNP G G A rs3748900 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:135160755G>A ENST00000409645.1 + 12 1782 MGAT5_ENST00000281923.2_Intron Q09328 MGT5A_HUMAN mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase NA NA cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279) extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021) alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3) 36 BRCA - Breast invasive adenocarcinoma(221;0.0964) GCCATTGGCTGTGAAAATGGG 0.443 NA G||| 1772 0.353834 0.2201 0.3573 5008 , , NA 20619 0.4296 NA 0.339 False NA ,,, NA NA NA 2504 0.4693 NA NA NA NA 0 G 1096,3308 361.4+/-315.7 135,826,1241 24 25 25 -3.4 0 2 dbSNP_107 25 2718,5880 413.3+/-351.1 438,1842,2019 no intron MGAT5 NM_002410.3 573,2668,3260 AA,AG,GG 31.612,24.8865,29.3339 135160755 3814,9188 2202 4299 6501 SO:0001627 intron_variant D17716 CCDS2171.1 2q21 2013-02-25 ENSG00000152127 ENSG00000152127 4249 2.4.1.155 Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases 7049 protein-coding gene gene with protein product 601774 NA 8292036 Standard NM_002410 NM_002410 NA Approved GNT-V uc002ttw.4 Q09328 OTTHUMG00000131681 ENST00000409645.1:c.1530+47G>A chr2.hg19:g.135160755G>A NA D3DP70 hg19 CCDS2171.1 0.02 9.117417 GCTxTGA COVERED NOVEL MGAT5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254584.3 4 15.651609 KEEP 0 0 0 52 1890 GG 1 1 0 + 8 60 295 0 0 18.580943 201 60 7528 320 ENST00000409645.1 0.038278 1 MGAT5 4249 __UNKNOWN__ __UNKNOWN__ 2 135210390 135210390 __UNKNOWN__ 3'UTR SNP A A G rs2290483 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:135210390A>G ENST00000409645.1 + 0 6450 Q09328 MGT5A_HUMAN mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase NA NA cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279) extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021) alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3) 36 BRCA - Breast invasive adenocarcinoma(221;0.0964) ATCCCTGTGGAGCTGCAGAGC 0.393 NA G||| 1994 0.398163 0.6884 0.2536 5008 , , NA 18421 0.6042 NA 0.1074 False NA ,,, NA NA NA 2504 0.1953 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D17716 CCDS2171.1 2q21 2013-02-25 ENSG00000152127 ENSG00000152127 4249 2.4.1.155 Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases 7049 protein-coding gene gene with protein product 601774 NA 8292036 Standard NM_002410 NM_002410 NA Approved GNT-V uc002ttw.4 Q09328 OTTHUMG00000131681 ENST00000409645.1:c.*3972A>G chr2.hg19:g.135210390A>G NA D3DP70 hg19 CCDS2171.1 0.02 1.737054 TGGxGCT COVERED NOVEL MGAT5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254584.3 1 5.116056 KEEP 0 0 0 17 554 AA 0.999366 0.999306 0 + 9 60 311 0 0 22.38748 88 60 3161 126 ENST00000409645.1 0.092784 0.99994 MGAT5 4249 __UNKNOWN__ __UNKNOWN__ 2 135211544 135211544 __UNKNOWN__ 3'UTR SNP A A T rs1041938 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:135211544A>T ENST00000409645.1 + 0 7604 Q09328 MGT5A_HUMAN mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase NA NA cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279) extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021) alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3) 36 BRCA - Breast invasive adenocarcinoma(221;0.0964) GAGTTTGGTGACTTCGTCAAA 0.468 NA T||| 1623 0.324081 0.5862 0.1527 5008 , , NA 20266 0.4851 NA 0.0855 False NA ,,, NA NA NA 2504 0.1708 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D17716 CCDS2171.1 2q21 2013-02-25 ENSG00000152127 ENSG00000152127 4249 2.4.1.155 Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases 7049 protein-coding gene gene with protein product 601774 NA 8292036 Standard NM_002410 NM_002410 NA Approved GNT-V uc002ttw.4 Q09328 OTTHUMG00000131681 ENST00000409645.1:c.*5126A>T chr2.hg19:g.135211544A>T NA D3DP70 hg19 CCDS2171.1 0.02 10.379146 GTGxCTT COVERED NOVEL MGAT5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254584.3 2 13.840271 KEEP 0 0 0 46 1424 AA 1 1 0 + 17 60 592 0 0 39.174419 275 60 9752 394 ENST00000409645.1 0.058219 1 TMEM163 81615 __UNKNOWN__ __UNKNOWN__ 2 135262051 135262051 __UNKNOWN__ Intron SNP C C A rs563899 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:135262051C>A ENST00000281924.6 - 5 523 NM_030923.4 NP_112185.1 Q8TC26 TM163_HUMAN transmembrane protein 163 NA NA cell junction (GO:0030054)|early endosome membrane (GO:0031901)|integral component of synaptic vesicle membrane (GO:0030285) zinc ion binding (GO:0008270) endometrium(1)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(221;0.154) GAGGATCTTACCTGGGAGAAC 0.473 NA A||| 2260 0.451278 0.4009 0.3314 5008 , , NA 19948 0.4782 NA 0.4006 False NA ,,, NA NA NA 2504 0.6288 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS2172.1 2q21.3 2008-02-05 ENSG00000152128 ENSG00000152128 81615 25380 protein-coding gene gene with protein product NA 17623043 Standard NM_030923 NM_030923 NA Approved DKFZP566N034, SV31 uc002ttx.3 Q8TC26 OTTHUMG00000131713 ENST00000281924.6:c.459-1483G>T chr2.hg19:g.135262051C>A NA Q53QM3|Q53SV7|Q69YH3|Q9UFG3 hg19 CCDS2172.1 0.02 4.39458 TTAxCTG COVERED NOVEL TMEM163-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254631.2 0 4.213409 KEEP 0 0 0 14 485 CC 0.995343 0.995343 0 - 8 60 298 0 0 20.179211 137 60 5080 193 ENST00000281924.6 0.055172 1 MAP3K19 80122 __UNKNOWN__ __UNKNOWN__ 2 135740863 135740863 __UNKNOWN__ Intron SNP C C A rs79960383 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:135740863C>A ENST00000375845.3 - 8 3253 MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.Q1104H|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000358371.4_Intron NM_001018044.2|NM_025052.3 NP_001018054.1|NP_079328.3 Q56UN5 M3K19_HUMAN mitogen-activated protein kinase kinase kinase 19 NA NA ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674) NA ACATATTCAGCTGTTgaagga 0.408 NA C||| 456 0.0910543 0.0113 0.0317 5008 , , NA 18297 0.377 NA 0.004 False NA ,,, NA NA NA 2504 0.0358 NA NA NA NA 0 C , 17,1735 0,17,859 119 118 119 , 1.9 0 2 dbSNP_131 119 19,3963 0,19,1972 no intron,intron YSK4 NM_001018046.1,NM_025052.3 , 0,36,2831 AA,AC,CC 0.4771,0.9703,0.6278 , , 135740863 36,5698 876 1991 2867 SO:0001627 intron_variant AK026727 CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1 2q21.3 2012-10-16 2012-10-16 2012-10-16 ENSG00000176601 ENSG00000176601 80122 Mitogen-activated protein kinase cascade / Kinase kinase kinases 26249 protein-coding gene gene with protein product Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae), yeast Sps1/Ste20-related kinase 4 (S. cerevisiae), YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) YSK4 NA 12477932 Standard NM_025052 NM_001282883 NA Approved FLJ23074 uc002tue.1 Q56UN5 OTTHUMG00000074083 ENST00000375845.3:c.3222+382G>T chr2.hg19:g.135740863C>A NA B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2 hg19 CCDS2176.2 0.02 20.22797 CAGxTGT COVERED 237 0.10851648351648352 6 0.012195121951219513 8 0.022099447513812154 220 0.38461538461538464 3 0.00395778364116095 C 7.481 0.648603 0.14516 0.009703 0.004771 ENSG00000176601 ENST00000392915 T 0.24908 1.83 3.68 1.88 0.25563 . . . . . T 0.00012 0.0000 . . . 0.58432 P 1.0000000000287557E-6 D 0.64830 0.994 P 0.54590 0.756 T 0.40905 -0.9538 7 0.87932 D 0 . 5.8502 0.18689 0.0:0.7583:0.0:0.2417 . 1104 A8MWG7 . H 1104 ENSP00000376647:Q1104H ENSP00000376647:Q1104H Q - 3 2 YSK4 135457333 0.001000 0.12720 0.007000 0.13788 0.379000 0.30106 0.314000 0.19432 0.542000 0.28846 0.579000 0.79373 CAG NOVEL MAP3K19-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000158244.1 2 11.73828 KEEP 0 0 0 39 1402 CC 1 1 0 - 28 60 1034 0 0 70.871012 435 60 16597 580 ENST00000375845.3 0.060475 1 MAP3K19 80122 __UNKNOWN__ __UNKNOWN__ 2 135741425 135741425 __UNKNOWN__ Intron SNP C C A rs16831223 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:135741425C>A ENST00000375845.3 - 8 3103 MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392915.1_Intron|MAP3K19_ENST00000315513.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000358371.4_Intron NM_001018044.2|NM_025052.3 NP_001018054.1|NP_079328.3 Q56UN5 M3K19_HUMAN mitogen-activated protein kinase kinase kinase 19 NA NA ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674) NA GGAAAGATGACCATTAAACCA 0.408 NA C||| 456 0.0910543 0.0113 0.0317 5008 , , NA 15347 0.377 NA 0.004 False NA ,,, NA NA NA 2504 0.0358 NA NA NA NA 0 C , 58,4348 50.9+/-86.3 0,58,2145 65 64 65 , 0.7 0 2 dbSNP_123 65 44,8554 30.1+/-81.4 0,44,4255 no intron,intron YSK4 NM_001018046.1,NM_025052.3 , 0,102,6400 AA,AC,CC 0.5117,1.3164,0.7844 , , 135741425 102,12902 2203 4299 6502 SO:0001627 intron_variant AK026727 CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1 2q21.3 2012-10-16 2012-10-16 2012-10-16 ENSG00000176601 ENSG00000176601 80122 Mitogen-activated protein kinase cascade / Kinase kinase kinases 26249 protein-coding gene gene with protein product Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae), yeast Sps1/Ste20-related kinase 4 (S. cerevisiae), YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) YSK4 NA 12477932 Standard NM_025052 NM_001282883 NA Approved FLJ23074 uc002tue.1 Q56UN5 OTTHUMG00000074083 ENST00000375845.3:c.3073-30G>T chr2.hg19:g.135741425C>A NA B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2 hg19 CCDS2176.2 0.02 1.845523 TGAxCAT COVERED NOVEL MAP3K19-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000158244.1 2 6.019873 KEEP 0 0 0 20 723 CC 0.999863 0.999793 0 - 6 60 220 0 0 15.118003 90 60 3384 149 ENST00000375845.3 0.0625 0.99993 MAP3K19 80122 __UNKNOWN__ __UNKNOWN__ 2 135744007 135744007 __UNKNOWN__ Missense_Mutation SNP T T C rs3905317 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:135744007T>C ENST00000375845.3 - 7 2465 c.2435A>G c.(2434-2436)gAa>gGa p.E812G MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.E829G|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.E699G NM_001018044.2|NM_025052.3 NP_001018054.1|NP_079328.3 Q56UN5 M3K19_HUMAN mitogen-activated protein kinase kinase kinase 19 812 NA E -> G (in dbSNP:rs3905317). ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674) NA CATAGAAACTTCTTCAACAAT 0.408 NA T||| 462 0.0922524 0.0113 0.0317 5008 , , NA 20181 0.3819 NA 0.004 False NA ,,, NA NA NA 2504 0.0368 NA NA NA NA 0 T ,GLY/GLU 62,4344 57.4+/-93.9 0,62,2141 77 75 76 ,2435 2.5 0.7 2 dbSNP_108 76 46,8554 31.2+/-83.2 0,46,4254 yes intron,missense YSK4 NM_001018046.1,NM_025052.3 ,98 0,108,6395 CC,CT,TT 0.5349,1.4072,0.8304 ,probably-damaging ,812/1329 135744007 108,12898 2203 4300 6503 SO:0001583 missense AK026727 CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1 2q21.3 2012-10-16 2012-10-16 2012-10-16 ENSG00000176601 ENSG00000176601 80122 Mitogen-activated protein kinase cascade / Kinase kinase kinases 26249 protein-coding gene gene with protein product Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae), yeast Sps1/Ste20-related kinase 4 (S. cerevisiae), YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) YSK4 NA 12477932 Standard NM_025052 NM_001282883 NA Approved FLJ23074 uc002tue.1 Q56UN5 OTTHUMG00000074083 ENST00000375845.3:c.2435A>G chr2.hg19:g.135744007T>C ENSP00000365005:p.Glu812Gly NA B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2 hg19 CCDS2176.2 0.02 13.451032 ACTxCTT COVERED 237 0.10851648351648352 6 0.012195121951219513 8 0.022099447513812154 220 0.38461538461538464 3 0.00395778364116095 T 13.09 2.133403 0.37630 0.014072 0.005349 ENSG00000176601 ENST00000375845;ENST00000358371;ENST00000392915;ENST00000437365 T;T;T;T 0.74947 -0.79;-0.77;1.54;-0.89 4.87 2.49 0.30216 . 0.270402 0.26421 N 0.024470 T 0.00012 0.0000 L 0.46157 1.445 0.09310 P 0.9999999999868776 B;B;B 0.29115 0.233;0.233;0.149 B;B;B 0.29598 0.104;0.104;0.048 T 0.18618 -1.0331 9 0.46703 T 0.11 . 8.9737 0.35921 0.0:0.1515:0.0:0.8485 rs3905317;rs61212962;rs3905317 699;829;812 Q56UN5-3;A8MWG7;Q56UN5 .;.;YSK4_HUMAN G 812;699;829;202 ENSP00000365005:E812G;ENSP00000351140:E699G;ENSP00000376647:E829G;ENSP00000392827:E202G ENSP00000351140:E699G E - 2 0 YSK4 135460477 1.000000 0.71417 0.680000 0.29994 0.402000 0.30811 3.762000 0.55250 0.356000 0.24157 0.379000 0.24179 GAA NOVEL MAP3K19-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000158244.1 2 9.327436 KEEP 0 0 0 31 969 TT 0.999997 0.999997 0 - 15 60 555 0 0 36.690845 290 60 10401 382 ENST00000375845.3 0.04918 1 MAP3K19 80122 __UNKNOWN__ __UNKNOWN__ 2 135744416 135744416 __UNKNOWN__ Missense_Mutation SNP C C G rs1112542 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:135744416C>G ENST00000375845.3 - 7 2056 c.2026G>C c.(2026-2028)Gag>Cag p.E676Q MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.E693Q|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.E563Q NM_001018044.2|NM_025052.3 NP_001018054.1|NP_079328.3 Q56UN5 M3K19_HUMAN mitogen-activated protein kinase kinase kinase 19 676 NA E -> Q (in dbSNP:rs1112542). ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674) NA CTTTCAGTCTCTCGCACATGA 0.403 NA C||| 627 0.1252 0.1316 0.0403 5008 , , NA 21345 0.3819 NA 0.004 False NA ,,, NA NA NA 2504 0.0368 NA NA NA NA 0 C ,GLN/GLU 608,3798 266.2+/-267.1 40,528,1635 169 158 162 ,2026 4.7 1 2 dbSNP_86 162 47,8553 31.7+/-84.0 0,47,4253 yes intron,missense YSK4 NM_001018046.1,NM_025052.3 ,29 40,575,5888 GG,GC,CC 0.5465,13.7994,5.0361 ,possibly-damaging ,676/1329 135744416 655,12351 2203 4300 6503 SO:0001583 missense AK026727 CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1 2q21.3 2012-10-16 2012-10-16 2012-10-16 ENSG00000176601 ENSG00000176601 80122 Mitogen-activated protein kinase cascade / Kinase kinase kinases 26249 protein-coding gene gene with protein product Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae), yeast Sps1/Ste20-related kinase 4 (S. cerevisiae), YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) YSK4 NA 12477932 Standard NM_025052 NM_001282883 NA Approved FLJ23074 uc002tue.1 Q56UN5 OTTHUMG00000074083 ENST00000375845.3:c.2026G>C chr2.hg19:g.135744416C>G ENSP00000365005:p.Glu676Gln NA B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2 hg19 CCDS2176.2 0.02 14.855475 TCTxTCG COVERED 298 0.13644688644688643 65 0.13211382113821138 10 0.027624309392265192 220 0.38461538461538464 3 0.00395778364116095 C 10.03 1.237971 0.22711 0.137994 0.005465 ENSG00000176601 ENST00000375845;ENST00000358371;ENST00000392915;ENST00000437365 T;T;T;T 0.74632 -0.8;-0.76;1.52;-0.86 5.67 4.74 0.60224 . 0.122354 0.36815 N 0.002389 T 0.00012 0.0000 L 0.36672 1.1 0.09310 P 1.0 P;D;P 0.76494 0.679;0.999;0.813 B;D;B 0.65323 0.373;0.934;0.206 T 0.10683 -1.0619 9 0.87932 D 0 . 14.4797 0.67573 0.0:0.8537:0.1463:0.0 rs1112542;rs1112542 563;693;676 Q56UN5-3;A8MWG7;Q56UN5 .;.;YSK4_HUMAN Q 676;563;693;66 ENSP00000365005:E676Q;ENSP00000351140:E563Q;ENSP00000376647:E693Q;ENSP00000392827:E66Q ENSP00000351140:E563Q E - 1 0 YSK4 135460886 1.000000 0.71417 0.968000 0.41197 0.018000 0.09664 3.362000 0.52314 2.667000 0.90743 0.561000 0.74099 GAG NOVEL MAP3K19-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000158244.1 3 10.233295 KEEP 0 0 0 34 1205 CC 0.999998 0.999998 0 - 28 60 1058 0 0 77.696206 298 60 11275 422 ENST00000375845.3 0.08589 1 MAP3K19 80122 __UNKNOWN__ __UNKNOWN__ 2 135745545 135745545 __UNKNOWN__ Silent SNP C C T rs11899779 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:135745545C>T ENST00000375845.3 - 7 927 c.897G>A c.(895-897)agG>agA p.R299R MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392915.1_Silent_p.R316R|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000358371.4_Silent_p.R186R NM_001018044.2|NM_025052.3 NP_001018054.1|NP_079328.3 Q56UN5 M3K19_HUMAN mitogen-activated protein kinase kinase kinase 19 299 NA ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674) NA CCAGGCATTGCCTGTGATGGT 0.418 NA T||| 1816 0.36262 0.3306 0.232 5008 , , NA 21832 0.5417 NA 0.2704 False NA ,,, NA NA NA 2504 0.409 NA NA NA NA 0 T , 1393,3013 687.5+/-404.9 222,949,1032 93 96 95 ,897 4.8 0.1 2 dbSNP_120 95 1977,6623 723.2+/-406.4 259,1459,2582 no intron,coding-synonymous YSK4 NM_001018046.1,NM_025052.3 , 481,2408,3614 TT,TC,CC 22.9884,31.616,25.9111 , ,299/1329 135745545 3370,9636 2203 4300 6503 SO:0001819 synonymous_variant AK026727 CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1 2q21.3 2012-10-16 2012-10-16 2012-10-16 ENSG00000176601 ENSG00000176601 80122 Mitogen-activated protein kinase cascade / Kinase kinase kinases 26249 protein-coding gene gene with protein product Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae), yeast Sps1/Ste20-related kinase 4 (S. cerevisiae), YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) YSK4 NA 12477932 Standard NM_025052 NM_001282883 NA Approved FLJ23074 uc002tue.1 Q56UN5 OTTHUMG00000074083 ENST00000375845.3:c.897G>A chr2.hg19:g.135745545C>T NA B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2 hg19 CCDS2176.2 0.02 12.551536 TTGxCTG COVERED NOVEL MAP3K19-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000158244.1 0 11.136507 KEEP 0 0 0 37 1323 CC 1 1 0 - 12 60 438 0 0 27.181611 316 60 11535 413 ENST00000375845.3 0.036585 1 MAP3K19 80122 __UNKNOWN__ __UNKNOWN__ 2 135745722 135745722 __UNKNOWN__ Silent SNP A A G rs10928526 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:135745722A>G ENST00000375845.3 - 7 750 c.720T>C c.(718-720)agT>agC p.S240S MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392915.1_Silent_p.S257S|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000358371.4_Silent_p.S127S NM_001018044.2|NM_025052.3 NP_001018054.1|NP_079328.3 Q56UN5 M3K19_HUMAN mitogen-activated protein kinase kinase kinase 19 240 NA ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674) NA AAGATGTGAGACTTGGAATGT 0.478 NA G||| 1817 0.362819 0.3306 0.232 5008 , , NA 19049 0.5417 NA 0.2704 False NA ,,, NA NA NA 2504 0.41 NA NA NA NA 0 G , 1393,3013 685.6+/-404.6 222,949,1032 97 108 105 ,720 -0.5 0 2 dbSNP_120 105 1980,6620 721.7+/-406.4 259,1462,2579 no intron,coding-synonymous YSK4 NM_001018046.1,NM_025052.3 , 481,2411,3611 GG,GA,AA 23.0233,31.616,25.9342 , ,240/1329 135745722 3373,9633 2203 4300 6503 SO:0001819 synonymous_variant AK026727 CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1 2q21.3 2012-10-16 2012-10-16 2012-10-16 ENSG00000176601 ENSG00000176601 80122 Mitogen-activated protein kinase cascade / Kinase kinase kinases 26249 protein-coding gene gene with protein product Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae), yeast Sps1/Ste20-related kinase 4 (S. cerevisiae), YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) YSK4 NA 12477932 Standard NM_025052 NM_001282883 NA Approved FLJ23074 uc002tue.1 Q56UN5 OTTHUMG00000074083 ENST00000375845.3:c.720T>C chr2.hg19:g.135745722A>G NA B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2 hg19 CCDS2176.2 0.02 18.759024 GAGxCTT COVERED NOVEL MAP3K19-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000158244.1 3 16.246956 KEEP 0 0 0 54 1668 AA 1 1 0 - 25 60 922 0 0 62.514154 413 60 14630 595 ENST00000375845.3 0.057078 1 ZRANB3 84083 __UNKNOWN__ __UNKNOWN__ 2 135988235 135988235 __UNKNOWN__ Missense_Mutation SNP C C T rs76333606 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:135988235C>T ENST00000264159.6 - 13 1918 c.1802G>A c.(1801-1803)cGa>cAa p.R601Q ZRANB3_ENST00000401392.1_Missense_Mutation_p.R601Q|ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000536680.1_Missense_Mutation_p.R601Q NM_032143.2 NP_115519.2 Q5FWF4 ZRAB3_HUMAN zinc finger, RAN-binding domain containing 3 601 NA cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|DNA rewinding (GO:0036292)|DNA strand renaturation (GO:0000733)|negative regulation of DNA recombination (GO:0045910)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to UV (GO:0009411) nuclear replication fork (GO:0043596) annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|endodeoxyribonuclease activity (GO:0004520)|helicase activity (GO:0004386)|K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270) NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.135) GAGTGGAGTTCGGATTTGCTT 0.507 NA C||| 384 0.0766773 0.003 0.1081 5008 , , NA 19761 0.0992 NA 0.0249 False NA ,,, NA NA NA 2504 0.184 NA NA NA NA 0 C GLN/ARG 21,3923 0,21,1951 157 153 154 1802 -8.7 0 2 dbSNP_131 154 139,8155 2,135,4010 yes missense ZRANB3 NM_032143.2 43 2,156,5961 TT,TC,CC 1.6759,0.5325,1.3074 benign 601/1080 135988235 160,12078 1972 4147 6119 SO:0001583 missense AL136824 CCDS46419.1, CCDS67963.1, CCDS74580.1 2q21.3 2013-05-13 ENSG00000121988 ENSG00000121988 84083 Zinc fingers, RAN-binding domain containing 25249 protein-coding gene gene with protein product NA 11230166 Standard NM_032143 XM_005263809 NA Approved DKFZP434B1727 uc002tum.3 Q5FWF4 OTTHUMG00000150475 ENST00000264159.6:c.1802G>A chr2.hg19:g.135988235C>T ENSP00000264159:p.Arg601Gln NA B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8 hg19 CCDS46419.1 0.02 11.928513 GTTxGGA COVERED 95 0.043498168498168496 1 0.0020325203252032522 28 0.07734806629834254 50 0.08741258741258741 16 0.021108179419525065 C 13.14 2.146821 0.37923 0.005325 0.016759 ENSG00000121988 ENST00000538542;ENST00000283060;ENST00000401392;ENST00000264159;ENST00000536680 D;D;D 0.90563 -2.69;-2.69;-2.68 5.32 -8.74 0.00838 . 1.959680 0.01762 N 0.030630 T 0.09247 0.0228 N 0.08118 0 0.80722 P 0.0 B;B 0.34349 0.182;0.45 B;B 0.27500 0.037;0.08 T 0.62378 -0.6867 9 0.25106 T 0.35 -8.5281 1.2751 0.02029 0.2324:0.3373:0.2365:0.1937 . 601;601 Q5FWF4;Q5FWF4-3 ZRAB3_HUMAN;. Q 66;66;601;601;601 ENSP00000383979:R601Q;ENSP00000264159:R601Q;ENSP00000441320:R601Q ENSP00000264159:R601Q R - 2 0 ZRANB3 135704705 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -0.187000 0.09656 -1.734000 0.01355 -1.114000 0.02060 CGA NOVEL ZRANB3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000318254.1 0 12.631172 KEEP 0 0 0 42 1425 CC 1 1 0 - 17 60 644 0 1 45.489695 235 60 8535 371 ENST00000264159.6 0.06746 1 R3HDM1 23518 __UNKNOWN__ __UNKNOWN__ 2 136480126 136480126 __UNKNOWN__ Intron SNP A A G rs189130270 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:136480126A>G ENST00000410054.1 + 22 3110 R3HDM1_ENST00000264160.4_Intron|R3HDM1_ENST00000329971.3_Intron|R3HDM1_ENST00000409478.1_Intron|R3HDM1_ENST00000409606.1_Intron NM_001282800.1 NP_001269729.1 Q15032 R3HD1_HUMAN R3H domain containing 1 NA NA poly(A) RNA binding (GO:0044822) breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 38 BRCA - Breast invasive adenocarcinoma(221;0.127) AGAAACAGGTATGTCTCTGAG 0.493 NA A||| 15 0.00299521 0.0 0.0 5008 , , NA 20189 0.0149 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 55 49 51 NA NA 2 NA 136480126 2203 4300 6503 SO:0001627 intron_variant D21852 CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1 2q21.3 2012-09-20 2005-09-02 2005-09-02 ENSG00000048991 ENSG00000048991 23518 9757 protein-coding gene gene with protein product R3H domain (binds single-stranded nucleic acids) containing R3HDM NA 7584026 Standard NM_015361 NM_001282798 NA Approved KIAA0029 uc002tuo.3 Q15032 OTTHUMG00000131740 ENST00000410054.1:c.2779+3A>G chr2.hg19:g.136480126A>G NA A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32 hg19 0.02 4.317548 GGTxTGT COVERED NOVEL R3HDM1-005 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000331546.2 1 4.813653 KEEP 0 0 0 16 487 AA 0.997832 0.997831 0 + 8 60 297 0 0 20.415552 124 60 4501 175 ENST00000410054.1 0.060606 1 UBXN4 23190 __UNKNOWN__ __UNKNOWN__ 2 136530379 136530379 __UNKNOWN__ Intron SNP C C T rs148453066 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:136530379C>T ENST00000272638.9 + 9 1261 UBXN4_ENST00000490163.1_Intron NM_014607.3 NP_055422.1 Q92575 UBXN4_HUMAN UBX domain protein 4 NA NA response to unfolded protein (GO:0006986) cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634) NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 24 gaggccgagacgggcggatca 0.512 NA C||| 1240 0.247604 0.1808 0.3141 5008 , , NA 16308 0.2083 NA 0.2853 False NA ,,, NA NA NA 2504 0.2924 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D87684 CCDS42761.1 2q21.3-q22.1 2008-07-25 2008-07-25 2008-07-25 ENSG00000144224 ENSG00000144224 23190 UBX domain containing 14860 protein-coding gene gene with protein product erasin 611216 UBX domain-containing 2, UBX domain containing 2 UBXDC1, UBXD2 NA 16968747 Standard NM_014607 NM_014607 NA Approved KIAA0242 uc002tur.3 Q92575 OTTHUMG00000153577 ENST00000272638.9:c.950+262C>T chr2.hg19:g.136530379C>T NA A8K9W4|Q4ZG56|Q8IYM5 hg19 CCDS42761.1 0.02 -0.043864 AGAxGGG UNCOVERED NOVEL UBXN4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000331696.1 5 2.708591 KEEP 2 0 0 9 316 CC 0 0 0 + 3 60 106 0 0 10.569593 2 60 75 18 ENST00000272638.9 0.6 0.024074 LCT 3938 __UNKNOWN__ __UNKNOWN__ 2 136562472 136562472 __UNKNOWN__ Silent SNP G G A rs3739022 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:136562472G>A ENST00000264162.2 - 10 4339 c.4329C>T c.(4327-4329)ggC>ggT p.G1443G NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 1443 4 X approximate repeats. NA carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281) integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886) glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016) breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) Vitamin C(DB00126) AGTGGGACACGCCCAGGTTCT 0.542 NA G||| 1218 0.243211 0.2239 0.2839 5008 , , NA 20290 0.2153 NA 0.1501 False NA ,,, NA NA NA 2504 0.365 NA NA NA NA 0 G 922,3484 354.6+/-312.7 101,720,1382 125 107 113 4329 -7.1 0.1 2 dbSNP_107 113 838,7762 192.1+/-238.2 50,738,3512 no coding-synonymous LCT NM_002299.2 151,1458,4894 AA,AG,GG 9.7442,20.926,13.5322 1443/1928 136562472 1760,11246 2203 4300 6503 SO:0001819 synonymous_variant X07994 CCDS2178.1 2q21 2014-09-17 ENSG00000115850 ENSG00000115850 3938 3.2.1.108, 3.2.1.62 6530 protein-coding gene gene with protein product 603202 NA Standard NM_002299 NM_002299 NA Approved uc002tuu.1 P09848 OTTHUMG00000131738 ENST00000264162.2:c.4329C>T chr2.hg19:g.136562472G>A NA Q4ZG58 hg19 CCDS2178.1 0.02 7.233905 CACxCCC COVERED NOVEL LCT-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254657.1 0 2.407462 KEEP 0 0 0 8 266 GG 0.99257 0.99257 0 - 95 60 3410 0 0 338.309497 68 60 2328 202 ENST00000264162.2 0.582822 1 THSD7B 80731 __UNKNOWN__ __UNKNOWN__ 2 138169318 138169318 __UNKNOWN__ Silent SNP G G A rs181300458 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:138169318G>A ENST00000409968.1 + 14 3013 c.2835G>A c.(2833-2835)gaG>gaA p.E945E THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Silent_p.E945E|THSD7B_ENST00000413152.2_Silent_p.E914E Q9C0I4 THS7B_HUMAN thrombospondin, type I, domain containing 7B 945 TSP type-1 12. {ECO:0000255|PROSITE- ProRule:PRU00210}. NA integral component of membrane (GO:0016021) NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) GCAGAAGGGAGCCTCACCGAG 0.473 NA G||| 1 0.000199681 0.0 0.0 5008 , , NA 17609 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 124 122 123 NA NA 2 NA 138169318 1949 4136 6085 SO:0001819 synonymous_variant 2q22.1 2006-11-24 ENSG00000144229 ENSG00000144229 80731 29348 protein-coding gene gene with protein product NA 11214970 Standard XM_046570.9 NM_001080427 NA Approved KIAA1679 uc002tva.1 Q9C0I4 OTTHUMG00000153590 ENST00000409968.1:c.2835G>A chr2.hg19:g.138169318G>A NA hg19 0.02 15.59563 GGAxCCT COVERED NOVEL THSD7B-001 NOVEL not_organism_supported|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000331769.2 2 12.324568 KEEP 0 0 0 41 1447 GG 1 1 0 + 18 60 628 0 0 39.292489 394 60 14969 536 ENST00000409968.1 0.043689 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 139044863 139044863 __UNKNOWN__ IGR SNP G G A rs148079924 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:139044863G>A NA NA AC069394.1 (181388 upstream) : AC097721.2 (130990 downstream) NA NA NA TTgagcgagcgaaggagggga 0.443 NA G||| 41 0.0081869 0.0038 0.0 5008 , , NA 18260 0.0357 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.139044863G>A NA hg19 0.02 6.43935 AGCxAAG COVERED NOVEL 0 0 11.737614 KEEP 0 0 0 39 1331 GG 1 1 0 15 60 523 0 0 38.255109 136 60 4964 237 0.099338 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 139045852 139045852 __UNKNOWN__ IGR SNP A A G rs35211371 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:139045852A>G NA NA AC069394.1 (182377 upstream) : AC097721.2 (130001 downstream) NA NA NA AGCAAGACCTAAGCGAATAGG 0.438 NA A||| 428 0.0854633 0.0023 0.0865 5008 , , NA 19604 0.1687 NA 0.0716 False NA ,,, NA NA NA 2504 0.1258 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.139045852A>G NA hg19 0.02 18.430397 CCTxAGC COVERED NOVEL 0 0 10.265462 KEEP 0 1 34 46 1426 AA 1 1 0 20 60 758 0 0 50.226809 410 60 14657 574 0.046512 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 139658588 139658588 __UNKNOWN__ IGR SNP C C T rs6708881 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:139658588C>T NA NA RN7SKP286 (37123 upstream) : AC062021.1 (465146 downstream) NA NA NA ATAGCTCTTTCTCATCTGTCA 0.463 NA C||| 1447 0.288938 0.4274 0.2406 5008 , , NA 19940 0.4087 NA 0.0626 False NA ,,, NA NA NA 2504 0.2454 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.139658588C>T NA hg19 0.02 4.272814 TTTxTCA COVERED NOVEL 0 1 3.009783 KEEP 0 0 0 10 352 CC 0.992708 0.992689 0 6 60 192 0 0 12.258883 97 60 3630 124 0.058252 0.999981 LRP1B 53353 __UNKNOWN__ __UNKNOWN__ 2 141707868 141707868 __UNKNOWN__ Silent SNP G G T rs6748626 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:141707868G>T ENST00000389484.3 - 20 4043 c.3072C>A c.(3070-3072)gcC>gcA p.A1024A NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1024 LDL-receptor class A 7. {ECO:0000255|PROSITE-ProRule:PRU00124}. NA protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898) integral component of membrane (GO:0016021)|receptor complex (GO:0043235) calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041) NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CACCATCACAGGCCCAGTGGC 0.443 NA TSP Lung(27;0.18) G||| 1381 0.275759 0.4735 0.2378 5008 , , NA 16069 0.249 NA 0.1402 False NA ,,, NA NA NA 2504 0.2025 NA NA NA Colon(99;50 2074 2507 20106) NA 0 G 1721,2685 517.2+/-369.4 334,1053,816 89 64 73 3072 0.2 1 2 dbSNP_116 73 1182,7418 241.0+/-271.5 85,1012,3203 yes coding-synonymous LRP1B NM_018557.2 419,2065,4019 TT,TG,GG 13.7442,39.0604,22.3205 1024/4600 141707868 2903,10103 2203 4300 6503 SO:0001819 synonymous_variant AF176832 CCDS2182.1 2q21.2 2013-05-29 2010-01-26 ENSG00000168702 ENSG00000168702 53353 Low density lipoprotein receptors 6693 protein-coding gene gene with protein product LRP-deleted in tumors 608766 NA 10766186 Standard NM_018557 NM_018557 NA Approved LRP-DIT, LRPDIT uc002tvj.1 Q9NZR2 OTTHUMG00000131799 ENST00000389484.3:c.3072C>A chr2.hg19:g.141707868G>T NA Q8WY29|Q8WY30|Q8WY31 hg19 CCDS2182.1 0.02 6.783755 ACAxGCC COVERED NOVEL LRP1B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254736.2 0 5.417915 KEEP 0 0 0 18 659 GG 0.999859 0.999859 0 - 7 60 261 0 0 16.594575 173 60 6543 220 ENST00000389484.3 0.038889 1 LRP1B 53353 __UNKNOWN__ __UNKNOWN__ 2 141708021 141708021 __UNKNOWN__ Intron SNP T T A rs6706503 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:141708021T>A ENST00000389484.3 - 20 3940 NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B NA NA protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898) integral component of membrane (GO:0016021)|receptor complex (GO:0043235) calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041) NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CATGAAGAAATTTTTTCTTAT 0.433 NA TSP Lung(27;0.18) A||| 1381 0.275759 0.4735 0.2378 5008 , , NA 17144 0.249 NA 0.1402 False NA ,,, NA NA NA 2504 0.2025 NA NA NA Colon(99;50 2074 2507 20106) NA 0 A 1673,2733 333,1007,863 28 25 26 -7.2 0 2 dbSNP_116 26 1130,7470 85,960,3255 no intron LRP1B NM_018557.2 418,1967,4118 AA,AT,TT 13.1395,37.9709,21.5516 141708021 2803,10203 2203 4300 6503 SO:0001627 intron_variant AF176832 CCDS2182.1 2q21.2 2013-05-29 2010-01-26 ENSG00000168702 ENSG00000168702 53353 Low density lipoprotein receptors 6693 protein-coding gene gene with protein product LRP-deleted in tumors 608766 NA 10766186 Standard NM_018557 NM_018557 NA Approved LRP-DIT, LRPDIT uc002tvj.1 Q9NZR2 OTTHUMG00000131799 ENST00000389484.3:c.2969-50A>T chr2.hg19:g.141708021T>A NA Q8WY29|Q8WY30|Q8WY31 hg19 CCDS2182.1 0.02 8.792891 AAAxTTT COVERED NOVEL LRP1B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254736.2 2 9.891657 KEEP 0 0 0 33 1024 TT 0.999998 0.999998 0 - 7 60 262 0 0 16.189806 205 60 7379 296 ENST00000389484.3 0.033019 1 LRP1B 53353 __UNKNOWN__ __UNKNOWN__ 2 141709406 141709406 __UNKNOWN__ Intron SNP T T G rs1991540 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:141709406T>G ENST00000389484.3 - 19 3940 NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B NA NA protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898) integral component of membrane (GO:0016021)|receptor complex (GO:0043235) calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041) NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ATTAGTGCTATACAGTGAGCA 0.478 NA TSP Lung(27;0.18) T||| 788 0.157348 0.1823 0.1643 5008 , , NA 18185 0.2302 NA 0.0616 False NA ,,, NA NA NA 2504 0.1421 NA NA NA Colon(99;50 2074 2507 20106) NA 0 T 656,3750 279.3+/-274.7 57,542,1604 124 100 108 1.6 0 2 dbSNP_92 108 474,8126 139.5+/-196.2 17,440,3843 no intron LRP1B NM_018557.2 74,982,5447 GG,GT,TT 5.5116,14.8888,8.6883 141709406 1130,11876 2203 4300 6503 SO:0001627 intron_variant AF176832 CCDS2182.1 2q21.2 2013-05-29 2010-01-26 ENSG00000168702 ENSG00000168702 53353 Low density lipoprotein receptors 6693 protein-coding gene gene with protein product LRP-deleted in tumors 608766 NA 10766186 Standard NM_018557 NM_018557 NA Approved LRP-DIT, LRPDIT uc002tvj.1 Q9NZR2 OTTHUMG00000131799 ENST00000389484.3:c.2968+22A>C chr2.hg19:g.141709406T>G NA Q8WY29|Q8WY30|Q8WY31 hg19 CCDS2182.1 0.02 9.928388 CTAxACA COVERED NOVEL LRP1B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254736.2 2 7.220392 KEEP 0 0 0 24 742 TT 0.999909 0.999909 0 - 11 60 430 0 0 29.307924 208 60 7496 288 ENST00000389484.3 0.050228 1 ACVR2A 92 __UNKNOWN__ __UNKNOWN__ 2 148657117 148657117 __UNKNOWN__ Silent SNP G G A rs1128919 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:148657117G>A ENST00000241416.7 + 3 990 c.354G>A c.(352-354)ccG>ccA p.P118P ACVR2A_ENST00000404590.1_Silent_p.P118P|AC009480.3_ENST00000402410.2_RNA|ACVR2A_ENST00000535787.1_Silent_p.P10P NM_001278579.1|NM_001278580.1|NM_001616.3 NP_001265508.1|NP_001265509.1|NP_001607.1 P27037 AVR2A_HUMAN activin A receptor, type IIA 118 NA activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|gastrulation with mouth forming second (GO:0001702)|mesoderm development (GO:0007498)|penile erection (GO:0043084)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|regulation of BMP signaling pathway (GO:0030510)|regulation of nitric-oxide synthase activity (GO:0050999)|Sertoli cell proliferation (GO:0060011)|sperm ejaculation (GO:0042713)|spermatogenesis (GO:0007283)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178) cell surface (GO:0009986)|cytoplasm (GO:0005737)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|coreceptor activity (GO:0015026)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8) 45 BRCA - Breast invasive adenocarcinoma(221;0.0969) CTTATTTTCCGGAGATGGAAG 0.343 NA G||| 1766 0.352636 0.2852 0.4611 5008 , , NA 15465 0.4673 NA 0.327 False NA ,,, NA NA NA 2504 0.2751 NA NA NA NA 0 G 1368,3036 424.0+/-340.3 223,922,1057 151 159 156 354 0.4 1 2 dbSNP_86 156 2710,5888 427.5+/-355.6 419,1872,2008 no coding-synonymous ACVR2A NM_001616.3 642,2794,3065 AA,AG,GG 31.519,31.0627,31.3644 118/514 148657117 4078,8924 2202 4299 6501 SO:0001819 synonymous_variant CCDS33301.1, CCDS63030.1 2q22.2-q23.3 2008-02-05 2005-05-10 2005-05-10 ENSG00000121989 ENSG00000121989 92 173 protein-coding gene gene with protein product 102581 activin A receptor, type II ACVR2 NA 1314589, 10702675 Standard NM_001616 NM_001278579 NA Approved ACTRII uc002twh.3 P27037 OTTHUMG00000150603 ENST00000241416.7:c.354G>A chr2.hg19:g.148657117G>A NA B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474 hg19 CCDS33301.1 0.02 13.479188 TCCxGAG COVERED NOVEL ACVR2A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000319051.1 2 9.435904 KEEP 0 3 102 67 2294 GG 1 1 0 + 14 60 527 0 0 34.114197 322 60 10924 510 ENST00000241416.7 0.041667 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 149273517 149273517 __UNKNOWN__ IGR SNP C C T rs4972281 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:149273517C>T NA NA MBD5 (2497 upstream) : EPC2 (129035 downstream) NA NA NA TTGTACTTTTCAGTGCCATTA 0.328 NA T||| 2523 0.503794 0.5174 0.4568 5008 , , NA 17369 0.8085 NA 0.2485 False NA ,,, NA NA NA 2504 0.4673 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.149273517C>T NA hg19 0.02 8.989 TTTxAGT COVERED NOVEL 0 0 12.339582 KEEP 0 0 0 41 1432 CC 1 1 0 13 60 478 0 0 32.180333 222 60 8394 322 0.055319 1 NMI 9111 __UNKNOWN__ __UNKNOWN__ 2 152127161 152127161 __UNKNOWN__ 3'UTR SNP C C T rs3771884 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:152127161C>T ENST00000243346.5 - 0 1440 NM_004688.2 NP_004679.2 Q13287 NMI_HUMAN N-myc (and STAT) interactor NA NA inflammatory response (GO:0006954)|JAK-STAT cascade (GO:0007259)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366) cytoplasm (GO:0005737)|nucleus (GO:0005634) transcription cofactor activity (GO:0003712) endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 BRCA - Breast invasive adenocarcinoma(221;0.0571) CAAACATTTACAGTAATCCGG 0.294 NA C||| 366 0.0730831 0.1884 0.0331 5008 , , NA 18433 0.0774 NA 0.005 False NA ,,, NA NA NA 2504 0.0112 NA NA NA NA 0 C 775,3631 309.1+/-290.9 70,635,1498 49 51 50 -0.2 0 2 dbSNP_107 50 13,8587 8.4+/-32.0 0,13,4287 no utr-3 NMI NM_004688.2 70,648,5785 TT,TC,CC 0.1512,17.5897,6.0587 152127161 788,12218 2203 4300 6503 SO:0001624 3_prime_UTR_variant U32849 CCDS2192.1 2q23 2008-05-23 ENSG00000123609 ENSG00000123609 9111 7854 protein-coding gene gene with protein product 603525 NA 8668343, 9989503 Standard NM_004688 NM_004688 NA Approved uc002txi.2 Q13287 OTTHUMG00000131867 ENST00000243346.5:c.*46G>A chr2.hg19:g.152127161C>T NA B5BU69|Q53TI8|Q9BVE5 hg19 CCDS2192.1 0.02 26.395194 TTAxAGT COVERED NOVEL NMI-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254817.2 3 22.873568 KEEP 0 0 0 76 2655 CC 1 1 0 - 22 60 826 0 0 51.973607 589 60 22129 770 ENST00000243346.5 0.036007 1 RIF1 55183 __UNKNOWN__ __UNKNOWN__ 2 152295141 152295141 __UNKNOWN__ Intron SNP A A G rs16830036 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:152295141A>G ENST00000243326.5 + 13 1966 RIF1_ENST00000433166.2_Intron|RIF1_ENST00000444746.2_Intron|RIF1_ENST00000428287.2_Intron|RIF1_ENST00000430328.2_Intron|RIF1_ENST00000453091.2_Intron Q9Y581 INSL6_HUMAN replication timing regulatory factor 1 NA NA fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286) extracellular region (GO:0005576) hormone activity (GO:0005179) NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 97 BRCA - Breast invasive adenocarcinoma(221;0.0429) AGTGTTAGTCATAGTACGTAG 0.313 NA A||| 1091 0.217851 0.0408 0.3545 5008 , , NA 18778 0.3145 NA 0.2952 False NA ,,, NA NA NA 2504 0.181 NA NA NA NA 0 A ,,, 104,1280 2,100,590 167 143 150 ,,, -0.3 0 2 dbSNP_123 150 843,2339 100,643,848 no intron,intron,intron,intron RIF1 NM_001177663.1,NM_001177664.1,NM_001177665.1,NM_018151.4 ,,, 102,743,1438 GG,GA,AA 26.4928,7.5145,20.7403 ,,, ,,, 152295141 947,3619 692 1591 2283 SO:0001627 intron_variant AK022932 CCDS2194.1, CCDS54406.1 2q23.3 2014-06-02 2014-06-02 ENSG00000080345 ENSG00000080345 55183 23207 protein-coding gene gene with protein product 608952 RAP1 interacting factor homolog (yeast) NA 15342490, 15042697, 22850674 Standard NM_018151 NA Approved FLJ12870, FLJ10599 uc002txm.3 Q5UIP0 OTTHUMG00000131886 ENST00000243326.5:c.1484-57A>G chr2.hg19:g.152295141A>G NA A0AVS0|Q9NS16 hg19 CCDS2194.1 0.02 4.44352 GTCxTAG COVERED NOVEL RIF1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000254836.3 0 5.406292 KEEP 0 0 0 18 538 AA 0.999859 0.999859 0 + 8 60 280 0 0 18.798534 121 60 4377 158 ENST00000243326.5 0.062016 1 RIF1 55183 __UNKNOWN__ __UNKNOWN__ 2 152311570 152311570 __UNKNOWN__ Missense_Mutation SNP G G A rs2444263 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:152311570G>A ENST00000243326.5 + 21 2989 c.2506G>A c.(2506-2508)Ggc>Agc p.G836S RIF1_ENST00000444746.2_Missense_Mutation_p.G836S|RIF1_ENST00000428287.2_Missense_Mutation_p.G836S|RIF1_ENST00000430328.2_Missense_Mutation_p.G836S|RIF1_ENST00000453091.2_Missense_Mutation_p.G836S Q9Y581 INSL6_HUMAN replication timing regulatory factor 1 0 NA fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286) extracellular region (GO:0005576) hormone activity (GO:0005179) NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 97 BRCA - Breast invasive adenocarcinoma(221;0.0429) CTCAATCACCGGCATTATTTC 0.358 NA A||| 3202 0.639377 0.5756 0.7061 5008 , , NA 18133 0.756 NA 0.6779 False NA ,,, NA NA NA 2504 0.5184 NA NA NA NA 0 A SER/GLY,SER/GLY,SER/GLY,SER/GLY 2544,1862 539.1+/-375.2 738,1068,397 146 145 146 2506,2506,2506,2506 3.2 0.3 2 dbSNP_100 146 5701,2899 453.5+/-363.3 1887,1927,486 yes missense,missense,missense,missense RIF1 NM_001177663.1,NM_001177664.1,NM_001177665.1,NM_018151.4 56,56,56,56 2625,2995,883 AA,AG,GG 33.7093,42.2606,36.6062 benign,benign,benign,benign 836/2447,836/2447,836/2447,836/2473 152311570 8245,4761 2203 4300 6503 SO:0001583 missense AK022932 CCDS2194.1, CCDS54406.1 2q23.3 2014-06-02 2014-06-02 ENSG00000080345 ENSG00000080345 55183 23207 protein-coding gene gene with protein product 608952 RAP1 interacting factor homolog (yeast) NA 15342490, 15042697, 22850674 Standard NM_018151 NA Approved FLJ12870, FLJ10599 uc002txm.3 Q5UIP0 OTTHUMG00000131886 ENST00000243326.5:c.2506G>A chr2.hg19:g.152311570G>A ENSP00000243326:p.Gly836Ser NA A0AVS0|Q9NS16 hg19 CCDS2194.1 0.02 16.283067 ACCxGCA COVERED 1523|1523 0.6973443223443223|0.6973443223443223 309|309 0.6280487804878049|0.6280487804878049 258|258 0.712707182320442|0.712707182320442 452|452 0.7902097902097902|0.7902097902097902 504|504 0.6649076517150396|0.6649076517150396 A|A 2.271|2.271 -0.366915|-0.366915 0.05069|0.05069 0.577394|0.577394 0.662907|0.662907 ENSG00000080345|ENSG00000080345 ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328|ENST00000414861 D;D;D;D;D|. 0.98400|. -4.91;-4.91;-4.91;-4.91;-4.91|. 5.55|5.55 3.18|3.18 0.36537|0.36537 .|. 0.465658|. 0.26492|. N|. 0.024077|. T|T 0.00012|0.00012 0.0000|0.0000 N|N 0.00289|0.00289 -1.7|-1.7 0.80722|0.80722 P|P 0.0|0.0 B;B|. 0.15473|. 0.0;0.013|. B;B|. 0.08055|. 0.0;0.003|. T|T 0.30031|0.30031 -0.9992|-0.9992 9|4 0.02654|. T|. 1|. 0.295|0.295 8.7406|8.7406 0.34556|0.34556 0.5609:0.0:0.4391:0.0|0.5609:0.0:0.4391:0.0 rs2444263;rs61531851;rs2444263|rs2444263;rs61531851;rs2444263 836;836|. Q5UIP0;Q5UIP0-2|. RIF1_HUMAN;.|. S|Q 836|827 ENSP00000390181:G836S;ENSP00000414615:G836S;ENSP00000415691:G836S;ENSP00000243326:G836S;ENSP00000416123:G836S|. ENSP00000243326:G836S|. G|R +|+ 1|2 0|0 RIF1|RIF1 152019816|152019816 0.011000|0.011000 0.17503|0.17503 0.259000|0.259000 0.24435|0.24435 0.880000|0.880000 0.50808|0.50808 1.088000|1.088000 0.30877|0.30877 0.084000|0.084000 0.17077|0.17077 -0.254000|-0.254000 0.11334|0.11334 GGC|CGG NOVEL RIF1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000254836.3 1 10.473128 KEEP 0 4 126 79 2708 GG 1 1 0 + 16 60 616 1 0 40.228984 375 60 13203 591 ENST00000243326.5 0.040921 1 RIF1 55183 __UNKNOWN__ __UNKNOWN__ 2 152314385 152314385 __UNKNOWN__ Silent SNP G G A rs16830047 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:152314385G>A ENST00000243326.5 + 23 3246 c.2763G>A c.(2761-2763)ctG>ctA p.L921L RIF1_ENST00000444746.2_Silent_p.L921L|RIF1_ENST00000428287.2_Silent_p.L921L|RIF1_ENST00000430328.2_Silent_p.L921L|RIF1_ENST00000453091.2_Silent_p.L921L Q9Y581 INSL6_HUMAN replication timing regulatory factor 1 0 NA fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286) extracellular region (GO:0005576) hormone activity (GO:0005179) NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 97 BRCA - Breast invasive adenocarcinoma(221;0.0429) TAATATTTCTGCACAAGAATA 0.378 NA G||| 1244 0.248403 0.093 0.3631 5008 , , NA 15359 0.3224 NA 0.3211 False NA ,,, NA NA NA 2504 0.226 NA NA NA NA 0 G ,,, 557,3849 250.9+/-257.8 38,481,1684 91 90 90 2763,2763,2763,2763 0.4 1 2 dbSNP_123 90 2428,6172 400.3+/-346.7 337,1754,2209 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous RIF1 NM_001177663.1,NM_001177664.1,NM_001177665.1,NM_018151.4 ,,, 375,2235,3893 AA,AG,GG 28.2326,12.6419,22.9509 ,,, 921/2447,921/2447,921/2447,921/2473 152314385 2985,10021 2203 4300 6503 SO:0001819 synonymous_variant AK022932 CCDS2194.1, CCDS54406.1 2q23.3 2014-06-02 2014-06-02 ENSG00000080345 ENSG00000080345 55183 23207 protein-coding gene gene with protein product 608952 RAP1 interacting factor homolog (yeast) NA 15342490, 15042697, 22850674 Standard NM_018151 NA Approved FLJ12870, FLJ10599 uc002txm.3 Q5UIP0 OTTHUMG00000131886 ENST00000243326.5:c.2763G>A chr2.hg19:g.152314385G>A NA A0AVS0|Q9NS16 hg19 CCDS2194.1 0.02 4.235107 TCTxCAC COVERED NOVEL RIF1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000254836.3 2 4.515959 KEEP 0 2 42 30 1102 GG 0.999997 0.999997 0 + 9 60 332 0 0 23.290352 121 60 4616 205 ENST00000243326.5 0.069231 1 RIF1 55183 __UNKNOWN__ __UNKNOWN__ 2 152322095 152322095 __UNKNOWN__ Missense_Mutation SNP A A T rs2444257 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:152322095A>T ENST00000243326.5 + 29 6544 c.6061A>T c.(6061-6063)Aat>Tat p.N2021Y RIF1_ENST00000444746.2_Missense_Mutation_p.N2021Y|RIF1_ENST00000428287.2_Missense_Mutation_p.N2021Y|RIF1_ENST00000430328.2_Missense_Mutation_p.N2021Y|RIF1_ENST00000453091.2_Missense_Mutation_p.N2021Y Q9Y581 INSL6_HUMAN replication timing regulatory factor 1 0 NA fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286) extracellular region (GO:0005576) hormone activity (GO:0005179) NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 97 BRCA - Breast invasive adenocarcinoma(221;0.0429) AATGAAAAATAATGAAGAAAT 0.413 NA T||| 3303 0.659545 0.5802 0.7392 5008 , , NA 18023 0.7619 NA 0.7276 False NA ,,, NA NA NA 2504 0.5348 NA NA NA NA 0 T TYR/ASN,TYR/ASN,TYR/ASN,TYR/ASN 2616,1790 526.8+/-372.0 784,1048,371 62 59 60 6061,6061,6061,6061 -2.4 0 2 dbSNP_100 60 6269,2331 390.1+/-343.2 2283,1703,314 yes missense,missense,missense,missense RIF1 NM_001177663.1,NM_001177664.1,NM_001177665.1,NM_018151.4 143,143,143,143 3067,2751,685 TT,TA,AA 27.1047,40.6264,31.6854 benign,benign,benign,benign 2021/2447,2021/2447,2021/2447,2021/2473 152322095 8885,4121 2203 4300 6503 SO:0001583 missense AK022932 CCDS2194.1, CCDS54406.1 2q23.3 2014-06-02 2014-06-02 ENSG00000080345 ENSG00000080345 55183 23207 protein-coding gene gene with protein product 608952 RAP1 interacting factor homolog (yeast) NA 15342490, 15042697, 22850674 Standard NM_018151 NA Approved FLJ12870, FLJ10599 uc002txm.3 Q5UIP0 OTTHUMG00000131886 ENST00000243326.5:c.6061A>T chr2.hg19:g.152322095A>T ENSP00000243326:p.Asn2021Tyr NA A0AVS0|Q9NS16 hg19 CCDS2194.1 0.02 11.923765 AATxATG COVERED 1581 0.7239010989010989 311 0.6321138211382114 272 0.7513812154696132 455 0.7954545454545454 543 0.716358839050132 T 0.030 -1.339846 0.01277 0.593736 0.728953 ENSG00000080345 ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328 T;T;T;T;T 0.09073 3.02;3.02;3.02;3.02;3.02 5.04 -2.42 0.06542 . 1.811830 0.01857 N 0.036308 T 0.00012 0.0000 N 0.03608 -0.345 0.80722 P 0.0 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.27157 -1.0082 9 0.21540 T 0.41 6.8136 1.2839 0.02046 0.1966:0.1361:0.3055:0.3618 rs2444257;rs52791284;rs60963969;rs2444257 2021;2021 Q5UIP0;Q5UIP0-2 RIF1_HUMAN;. Y 2021 ENSP00000390181:N2021Y;ENSP00000414615:N2021Y;ENSP00000415691:N2021Y;ENSP00000243326:N2021Y;ENSP00000416123:N2021Y ENSP00000243326:N2021Y N + 1 0 RIF1 152030341 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -1.094000 0.03359 -0.792000 0.04480 -3.514000 0.00032 AAT NOVEL RIF1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000254836.3 4 11.697649 KEEP 0 2 57 59 1773 AA 1 1 0 + 16 60 572 0 0 37.258565 304 60 10867 436 ENST00000243326.5 0.05 1 RIF1 55183 __UNKNOWN__ __UNKNOWN__ 2 152331745 152331745 __UNKNOWN__ 3'UTR SNP T T G rs16830067 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:152331745T>G ENST00000243326.5 + 0 8062 RIF1_ENST00000444746.2_3'UTR|RIF1_ENST00000428287.2_3'UTR|RIF1_ENST00000430328.2_3'UTR|RIF1_ENST00000453091.2_3'UTR Q9Y581 INSL6_HUMAN replication timing regulatory factor 1 NA NA fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286) extracellular region (GO:0005576) hormone activity (GO:0005179) NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 97 BRCA - Breast invasive adenocarcinoma(221;0.0429) TAAGTTCAATTTTGTAAGTTC 0.303 NA T||| 1089 0.217452 0.0401 0.3545 5008 , , NA 17534 0.3145 NA 0.2942 False NA ,,, NA NA NA 2504 0.181 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK022932 CCDS2194.1, CCDS54406.1 2q23.3 2014-06-02 2014-06-02 ENSG00000080345 ENSG00000080345 55183 23207 protein-coding gene gene with protein product 608952 RAP1 interacting factor homolog (yeast) NA 15342490, 15042697, 22850674 Standard NM_018151 NA Approved FLJ12870, FLJ10599 uc002txm.3 Q5UIP0 OTTHUMG00000131886 ENST00000243326.5:c.*160T>G chr2.hg19:g.152331745T>G NA A0AVS0|Q9NS16 hg19 CCDS2194.1 0.02 6.997633 AATxTTG COVERED NOVEL RIF1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000254836.3 2 4.047111 KEEP 0 1 39 27 830 TT 0.999997 0.999997 0 + 8 60 295 0 0 19.397597 158 60 5678 226 ENST00000243326.5 0.048193 1 RIF1 55183 __UNKNOWN__ __UNKNOWN__ 2 152331999 152331999 __UNKNOWN__ 3'UTR SNP G G T rs372957656|rs2432955|rs376249793 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:152331999G>T ENST00000243326.5 + 0 8316 RIF1_ENST00000453091.2_3'UTR Q9Y581 INSL6_HUMAN replication timing regulatory factor 1 NA NA fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286) extracellular region (GO:0005576) hormone activity (GO:0005179) NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 97 BRCA - Breast invasive adenocarcinoma(221;0.0429) TTTGTTTGTTGGTTTGTTTAA 0.279 NA t||| 3309 0.660743 0.6445 0.7104 5008 , , NA 17109 0.7579 NA 0.6859 False NA ,,, NA NA NA 2504 0.5215 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK022932 CCDS2194.1, CCDS54406.1 2q23.3 2014-06-02 2014-06-02 ENSG00000080345 ENSG00000080345 55183 23207 protein-coding gene gene with protein product 608952 RAP1 interacting factor homolog (yeast) NA 15342490, 15042697, 22850674 Standard NM_018151 NA Approved FLJ12870, FLJ10599 uc002txm.3 Q5UIP0 OTTHUMG00000131886 ENST00000243326.5:c.*414G>T chr2.hg19:g.152331999G>T NA A0AVS0|Q9NS16 hg19 CCDS2194.1 0.02 9.139577 GTTxGTT COVERED NOVEL RIF1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000254836.3 1 5.854635 KEEP 0 1 33 31 1115 GG 0.999997 0.999997 0 + 8 60 303 0 0 19.232263 210 60 7716 275 ENST00000243326.5 0.036697 1 RIF1 55183 __UNKNOWN__ __UNKNOWN__ 2 152333118 152333118 __UNKNOWN__ 3'UTR SNP C C G rs4468813 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:152333118C>G ENST00000243326.5 + 0 9435 Q9Y581 INSL6_HUMAN replication timing regulatory factor 1 NA NA fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286) extracellular region (GO:0005576) hormone activity (GO:0005179) NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 97 BRCA - Breast invasive adenocarcinoma(221;0.0429) ATCATAAATTCATCATAATCA 0.338 NA C||| 1246 0.248802 0.093 0.3631 5008 , , NA 16762 0.3224 NA 0.3211 False NA ,,, NA NA NA 2504 0.228 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK022932 CCDS2194.1, CCDS54406.1 2q23.3 2014-06-02 2014-06-02 ENSG00000080345 ENSG00000080345 55183 23207 protein-coding gene gene with protein product 608952 RAP1 interacting factor homolog (yeast) NA 15342490, 15042697, 22850674 Standard NM_018151 NA Approved FLJ12870, FLJ10599 uc002txm.3 Q5UIP0 OTTHUMG00000131886 ENST00000243326.5:c.*1533C>G chr2.hg19:g.152333118C>G NA A0AVS0|Q9NS16 hg19 CCDS2194.1 0.02 9.781156 ATTxATC COVERED NOVEL RIF1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000254836.3 0 6.621247 KEEP 0 0 0 22 755 CC 0.999879 0.999879 0 + 8 60 317 0 0 20.710017 205 60 7709 255 ENST00000243326.5 0.037559 1 NEB 4703 __UNKNOWN__ __UNKNOWN__ 2 152342481 152342481 __UNKNOWN__ Intron SNP A A G rs16830090 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:152342481A>G ENST00000604864.1 - 180 25404 NEB_ENST00000427231.2_Intron|NEB_ENST00000409198.1_Intron|NEB_ENST00000397336.2_Intron|NEB_ENST00000397345.3_Intron|NEB_ENST00000509223.2_Intron|NEB_ENST00000603639.1_Intron|NEB_ENST00000172853.10_Intron P20929 NEBU_HUMAN nebulin NA NA muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525) actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018) structural constituent of muscle (GO:0008307) NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) GAAATATTATATGTTGGATTT 0.398 NA A||| 1245 0.248602 0.093 0.3631 5008 , , NA 22732 0.3224 NA 0.3211 False NA ,,, NA NA NA 2504 0.227 NA NA NA NA 0 A ,, 467,3351 34,399,1476 46 44 44 ,, 1.4 0 2 dbSNP_123 44 2326,5930 324,1678,2126 no intron,intron,intron NEB NM_001164507.1,NM_001164508.1,NM_004543.4 ,, 358,2077,3602 GG,GA,AA 28.1734,12.2315,23.1324 ,, ,, 152342481 2793,9281 1909 4128 6037 SO:0001627 intron_variant X83957 CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1 2q22 2014-09-17 ENSG00000183091 ENSG00000183091 4703 7720 protein-coding gene gene with protein product nemaline myopathy type 2 161650 NEM2 NA 10051637, 9359044 Standard NM_004543 NM_001164507 NA Approved NEB177D uc010fnx.3 P20929 OTTHUMG00000153784 ENST00000604864.1:c.25405-34T>C chr2.hg19:g.152342481A>G NA F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8 hg19 CCDS54408.1 0.02 9.29079 TATxTGT COVERED NOVEL NEB-018 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000469063.1 1 6.618678 KEEP 0 0 0 22 661 AA 0.999879 0.999879 0 - 9 60 338 0 0 21.926634 203 60 7451 281 ENST00000604864.1 0.042453 1 NEB 4703 __UNKNOWN__ __UNKNOWN__ 2 152350462 152350462 __UNKNOWN__ Intron SNP T T C rs4664455 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:152350462T>C ENST00000604864.1 - 173 24579 NEB_ENST00000427231.2_Intron|NEB_ENST00000498015.2_Intron|NEB_ENST00000409198.1_Intron|NEB_ENST00000397336.2_Intron|NEB_ENST00000397345.3_Intron|NEB_ENST00000509223.2_Intron|NEB_ENST00000603639.1_Intron|RIF1_ENST00000457745.1_Intron|NEB_ENST00000172853.10_Intron P20929 NEBU_HUMAN nebulin NA NA muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525) actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018) structural constituent of muscle (GO:0008307) NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) GGGGGAAATGTTATGTTTAAT 0.338 NA C||| 3211 0.641174 0.5764 0.7075 5008 , , NA 17308 0.7629 NA 0.6769 False NA ,,, NA NA NA 2504 0.5194 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X83957 CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1 2q22 2014-09-17 ENSG00000183091 ENSG00000183091 4703 7720 protein-coding gene gene with protein product nemaline myopathy type 2 161650 NEM2 NA 10051637, 9359044 Standard NM_004543 NM_001164507 NA Approved NEB177D uc010fnx.3 P20929 OTTHUMG00000153784 ENST00000604864.1:c.24580-81A>G chr2.hg19:g.152350462T>C NA F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8 hg19 CCDS54408.1 0.02 6.211773 ATGxTAT COVERED NOVEL NEB-018 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000469063.1 0 3.24502 KEEP 0 1 35 23 742 TT 0.999909 0.999909 0 - 6 60 220 0 0 13.489303 171 60 6084 222 ENST00000604864.1 0.033898 1 NEB 4703 __UNKNOWN__ __UNKNOWN__ 2 152403014 152403014 __UNKNOWN__ Intron SNP C C T rs4664486 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:152403014C>T ENST00000604864.1 - 132 20367 NEB_ENST00000427231.2_Intron|NEB_ENST00000409198.1_Intron|NEB_ENST00000397345.3_Intron|NEB_ENST00000603639.1_Intron|NEB_ENST00000172853.10_Intron P20929 NEBU_HUMAN nebulin NA NA muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525) actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018) structural constituent of muscle (GO:0008307) NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) TCAGGAAACACAAAAGATGGA 0.358 NA C||| 2626 0.524361 0.444 0.6599 5008 , , NA 19726 0.5536 NA 0.6302 False NA ,,, NA NA NA 2504 0.3978 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X83957 CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1 2q22 2014-09-17 ENSG00000183091 ENSG00000183091 4703 7720 protein-coding gene gene with protein product nemaline myopathy type 2 161650 NEM2 NA 10051637, 9359044 Standard NM_004543 NM_001164507 NA Approved NEB177D uc010fnx.3 P20929 OTTHUMG00000153784 ENST00000604864.1:c.20368-57G>A chr2.hg19:g.152403014C>T NA F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8 hg19 CCDS54408.1 0.02 3.801045 ACAxAAA COVERED NOVEL NEB-018 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000469063.1 1 2.24276 KEEP 0 1 33 19 678 CC 0.999863 0.999863 0 - 5 60 177 0 0 10.820115 129 60 4858 193 ENST00000604864.1 0.037313 1 NEB 4703 __UNKNOWN__ __UNKNOWN__ 2 152422076 152422076 __UNKNOWN__ Missense_Mutation SNP C C G rs2288210 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:152422076C>G ENST00000604864.1 - 114 18304 c.18305G>C c.(18304-18306)aGa>aCa p.R6102T NEB_ENST00000427231.2_Missense_Mutation_p.R6102T|NEB_ENST00000409198.1_Missense_Mutation_p.R4401T|NEB_ENST00000397345.3_Missense_Mutation_p.R6102T|NEB_ENST00000603639.1_Missense_Mutation_p.R6102T|NEB_ENST00000172853.10_Missense_Mutation_p.R4401T P20929 NEBU_HUMAN nebulin 6096 NA muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525) actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018) structural constituent of muscle (GO:0008307) NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) CACCACACTTCTAAAGTTAGG 0.393 NA G||| 3271 0.653155 0.6082 0.6988 5008 , , NA 19494 0.7758 NA 0.6839 False NA ,,, NA NA NA 2504 0.5235 NA NA NA NA 0 G THR/ARG,THR/ARG,THR/ARG 2280,1400 705,870,265 74 66 68 13202,18305,18305 5.3 1 2 dbSNP_100 68 5438,2760 1812,1814,473 yes missense,missense,missense NEB NM_004543.4,NM_001164508.1,NM_001164507.1 71,71,71 2517,2684,738 GG,GC,CC 33.6667,38.0435,35.0227 benign,benign,benign 4401/6670,6102/8526,6102/8526 152422076 7718,4160 1840 4099 5939 SO:0001583 missense X83957 CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1 2q22 2014-09-17 ENSG00000183091 ENSG00000183091 4703 7720 protein-coding gene gene with protein product nemaline myopathy type 2 161650 NEM2 NA 10051637, 9359044 Standard NM_004543 NM_001164507 NA Approved NEB177D uc010fnx.3 P20929 OTTHUMG00000153784 ENST00000604864.1:c.18305G>C chr2.hg19:g.152422076C>G ENSP00000474498:p.Arg6102Thr NA F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8 hg19 CCDS54408.1 0.02 15.610073 CTTxTAA COVERED 1537 0.7037545787545788 323 0.6565040650406504 247 0.6823204419889503 457 0.798951048951049 510 0.6728232189973615 G 8.163 0.789963 0.16258 0.619565 0.663333 ENSG00000183091 ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853 T;T;T;T;T 0.03635 3.89;3.86;3.87;3.88;3.89 6.16 5.28 0.74379 . 0.095074 0.64402 N 0.000001 T 0.00012 0.0000 N 0.00112 -2.095 0.09310 P 1.0 B 0.02656 0.0 B 0.01281 0.0 T 0.30504 -0.9976 9 0.02654 T 1 . 13.9976 0.64411 0.0:0.1173:0.7603:0.1224 rs2288210;rs17270276;rs52813994;rs2288210 4401 P20929 NEBU_HUMAN T 4401;6102;6102;450;832;4401 ENSP00000386259:R4401T;ENSP00000380505:R6102T;ENSP00000416578:R6102T;ENSP00000410961:R832T;ENSP00000172853:R4401T ENSP00000172853:R4401T R - 2 0 NEB 152130322 1.000000 0.71417 1.000000 0.80357 0.995000 0.86356 5.717000 0.68446 0.939000 0.37446 -0.127000 0.14921 AGA NOVEL NEB-018 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000469063.1 1 9.065431 KEEP 0 1 37 43 1523 CC 1 1 0 - 15 60 561 0 0 35.692929 373 60 14250 500 ENST00000604864.1 0.03866 1 NEB 4703 __UNKNOWN__ __UNKNOWN__ 2 152422087 152422087 __UNKNOWN__ Silent SNP A A G rs2288211 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:152422087A>G ENST00000604864.1 - 114 18293 c.18294T>C c.(18292-18294)taT>taC p.Y6098Y NEB_ENST00000427231.2_Silent_p.Y6098Y|NEB_ENST00000409198.1_Silent_p.Y4397Y|NEB_ENST00000397345.3_Silent_p.Y6098Y|NEB_ENST00000603639.1_Silent_p.Y6098Y|NEB_ENST00000172853.10_Silent_p.Y4397Y P20929 NEBU_HUMAN nebulin 6092 NA muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525) actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018) structural constituent of muscle (GO:0008307) p.Y4397Y(1) NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) TAAAGTTAGGATAGTTTTCAA 0.388 NA A||| 1121 0.223842 0.0363 0.3761 5008 , , NA 19432 0.3036 NA 0.328 False NA ,,, NA NA NA 2504 0.18 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) A ,, 314,3372 8,298,1537 70 63 65 18294,18294,13191 1.2 1 2 dbSNP_100 65 2380,5802 349,1682,2060 no coding-synonymous,coding-synonymous,coding-synonymous NEB NM_001164507.1,NM_001164508.1,NM_004543.4 ,, 357,1980,3597 GG,GA,AA 29.0882,8.5187,22.6997 ,, 6098/8526,6098/8526,4397/6670 152422087 2694,9174 1843 4091 5934 SO:0001819 synonymous_variant X83957 CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1 2q22 2014-09-17 ENSG00000183091 ENSG00000183091 4703 7720 protein-coding gene gene with protein product nemaline myopathy type 2 161650 NEM2 NA 10051637, 9359044 Standard NM_004543 NM_001164507 NA Approved NEB177D uc010fnx.3 P20929 OTTHUMG00000153784 ENST00000604864.1:c.18294T>C chr2.hg19:g.152422087A>G NA F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8 hg19 CCDS54408.1 0.02 16.779465 AGGxTAG COVERED NOVEL NEB-018 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000469063.1 1 9.562848 KEEP 0 1 32 43 1346 AA 1 1 0 - 16 60 533 0 0 32.198532 386 60 14070 510 ENST00000604864.1 0.039801 1 NEB 4703 __UNKNOWN__ __UNKNOWN__ 2 152490219 152490219 __UNKNOWN__ Silent SNP A A G rs6709886 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:152490219A>G ENST00000604864.1 - 63 9362 c.9363T>C c.(9361-9363)ccT>ccC p.P3121P NEB_ENST00000427231.2_Silent_p.P3121P|NEB_ENST00000409198.1_Intron|NEB_ENST00000397345.3_Silent_p.P3121P|NEB_ENST00000603639.1_Silent_p.P3121P|NEB_ENST00000172853.10_Intron P20929 NEBU_HUMAN nebulin 3121 NA muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525) actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018) structural constituent of muscle (GO:0008307) NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) CGCTCTGGTCAGGCAGGCATG 0.517 NA .||| 3135 0.625998 0.5227 0.683 5008 , , NA 19052 0.7728 NA 0.6521 False NA ,,, NA NA NA 2504 0.547 NA NA NA NA 0 G ,, 714,670 180,354,158 129 105 112 9363,9363, -11.9 0 2 dbSNP_116 112 2020,1162 652,716,223 no coding-synonymous,coding-synonymous,intron NEB NM_001164507.1,NM_001164508.1,NM_004543.4 ,, 832,1070,381 GG,GA,AA 36.5179,48.4104,40.1226 ,, 3121/8526,3121/8526, 152490219 2734,1832 692 1591 2283 SO:0001819 synonymous_variant X83957 CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1 2q22 2014-09-17 ENSG00000183091 ENSG00000183091 4703 7720 protein-coding gene gene with protein product nemaline myopathy type 2 161650 NEM2 NA 10051637, 9359044 Standard NM_004543 NM_001164507 NA Approved NEB177D uc010fnx.3 P20929 OTTHUMG00000153784 ENST00000604864.1:c.9363T>C chr2.hg19:g.152490219A>G NA F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8 hg19 CCDS54408.1 0.02 6.555181 GTCxGGC COVERED NOVEL NEB-018 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000469063.1 0 9.628518 KEEP 0 0 0 32 993 AA 0.999997 0.999997 0 - 7 60 240 0 0 14.650593 165 60 6094 247 ENST00000604864.1 0.040698 1 NEB 4703 __UNKNOWN__ __UNKNOWN__ 2 152544903 152544903 __UNKNOWN__ Missense_Mutation SNP T T C rs77151072 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:152544903T>C ENST00000604864.1 - 23 2317 c.2318A>G c.(2317-2319)tAc>tGc p.Y773C NEB_ENST00000427231.2_Missense_Mutation_p.Y773C|NEB_ENST00000409198.1_Missense_Mutation_p.Y773C|NEB_ENST00000397345.3_Missense_Mutation_p.Y773C|NEB_ENST00000603639.1_Missense_Mutation_p.Y773C|NEB_ENST00000172853.10_Missense_Mutation_p.Y773C P20929 NEBU_HUMAN nebulin 773 NA muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525) actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018) structural constituent of muscle (GO:0008307) NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) TTTTGCTTTGTAATTCAGCTG 0.378 NA T||| 91 0.0181709 0.0 0.0 5008 , , NA 19209 0.0873 NA 0.0 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 T CYS/TYR,CYS/TYR,CYS/TYR 0,3780 0,0,1890 138 128 131 2318,2318,2318 5.7 1 2 dbSNP_131 131 1,8215 0,1,4107 yes missense,missense,missense NEB NM_001164507.1,NM_001164508.1,NM_004543.4 194,194,194 0,1,5997 CC,CT,TT 0.0122,0.0,0.0083 probably-damaging,probably-damaging,probably-damaging 773/8526,773/8526,773/6670 152544903 1,11995 1890 4108 5998 SO:0001583 missense X83957 CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1 2q22 2014-09-17 ENSG00000183091 ENSG00000183091 4703 7720 protein-coding gene gene with protein product nemaline myopathy type 2 161650 NEM2 NA 10051637, 9359044 Standard NM_004543 NM_001164507 NA Approved NEB177D uc010fnx.3 P20929 OTTHUMG00000153784 ENST00000604864.1:c.2318A>G chr2.hg19:g.152544903T>C ENSP00000474498:p.Tyr773Cys NA F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8 hg19 CCDS54408.1 0.02 12.371669 TTGxAAT COVERED 41 0.018772893772893772 0 0.0 1 0.0027624309392265192 40 0.06993006993006994 0 0.0 T 22.7 4.318650 0.81469 0.0 1.22E-4 ENSG00000183091 ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853 T;T;T;T 0.19250 2.16;2.27;2.25;2.18 5.71 5.71 0.89125 . 0.191842 0.34133 N 0.004237 T 0.05914 0.0154 M 0.80982 2.52 0.80722 D 1 D 0.76494 0.999 D 0.70935 0.971 T 0.03555 -1.1025 10 0.87932 D 0 . 13.5177 0.61549 0.0:0.0:0.0:1.0 . 773 P20929 NEBU_HUMAN C 773 ENSP00000386259:Y773C;ENSP00000380505:Y773C;ENSP00000416578:Y773C;ENSP00000172853:Y773C ENSP00000172853:Y773C Y - 2 0 NEB 152253149 1.000000 0.71417 1.000000 0.80357 0.982000 0.71751 6.301000 0.72782 2.172000 0.68678 0.460000 0.39030 TAC NOVEL NEB-018 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000469063.1 5 12.638646 KEEP 0 0 0 42 1334 TT 1 1 0 - 8 60 324 0 0 20.43149 273 60 9898 398 ENST00000604864.1 0.02847 1 ARL5A 26225 __UNKNOWN__ __UNKNOWN__ 2 152659093 152659093 __UNKNOWN__ 3'UTR SNP C C A rs79886308 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:152659093C>A ENST00000295087.8 - 0 1548 NM_001037174.1|NM_012097.3 NP_001032251.1|NP_036229.1 Q9Y689 ARL5A_HUMAN ADP-ribosylation factor-like 5A NA NA small GTPase mediated signal transduction (GO:0007264) intracellular (GO:0005622) GTP binding (GO:0005525) breast(1)|large_intestine(2)|liver(1)|lung(2) 6 BRCA - Breast invasive adenocarcinoma(221;0.153) AAAATCGATACACAATGTCAT 0.358 NA C||| 144 0.028754 0.0416 0.0043 5008 , , NA 16812 0.0804 NA 0.001 False NA ,,, NA NA NA 2504 0.0041 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF100740 CCDS2195.1, CCDS46425.1 2q23.3 2014-05-09 2005-11-03 2005-11-03 ENSG00000162980 ENSG00000162980 26225 ADP-ribosylation factors-like, ADP-ribosylation factors 696 protein-coding gene gene with protein product 608960 ADP-ribosylation factor-like 5 ARL5 NA Standard NM_012097 NA Approved uc002txx.1 Q9Y689 OTTHUMG00000131887 ENST00000295087.8:c.*697G>T chr2.hg19:g.152659093C>A NA Q580I5 hg19 CCDS2195.1 0.02 4.172742 ATAxACA COVERED NOVEL ARL5A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254837.1 3 5.718513 KEEP 0 0 0 19 657 CC 0.99986 0.999837 0 - 5 60 180 0 0 11.835259 92 60 3366 134 ENST00000295087.8 0.051546 0.999978 ARL5A 26225 __UNKNOWN__ __UNKNOWN__ 2 152684615 152684615 __UNKNOWN__ Intron SNP A A T rs12619358 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:152684615A>T ENST00000487723.1 - 1 335 ARL5A_ENST00000295087.8_Intron|ARL5A_ENST00000428992.2_Intron Q9Y689 ARL5A_HUMAN ADP-ribosylation factor-like 5A NA NA small GTPase mediated signal transduction (GO:0007264) intracellular (GO:0005622) GTP binding (GO:0005525) breast(1)|large_intestine(2)|liver(1)|lung(2) 6 BRCA - Breast invasive adenocarcinoma(221;0.153) CCTCTCCCCAACCCGTACGCC 0.657 NA A||| 86 0.0171725 0.0 0.0 5008 , , NA 12883 0.0804 NA 0.0 False NA ,,, NA NA NA 2504 0.0051 NA NA NA NA 0 A ,, 4,4402 8.1+/-20.4 0,4,2199 28 34 32 ,, -3.5 0 2 dbSNP_120 32 0,8600 0,0,4300 no intron,intron,intron ARL5A NM_001037174.1,NM_012097.3,NM_177985.2 ,, 0,4,6499 TT,TA,AA 0.0,0.0908,0.0308 ,, ,, 152684615 4,13002 2203 4300 6503 SO:0001627 intron_variant AF100740 CCDS2195.1, CCDS46425.1 2q23.3 2014-05-09 2005-11-03 2005-11-03 ENSG00000162980 ENSG00000162980 26225 ADP-ribosylation factors-like, ADP-ribosylation factors 696 protein-coding gene gene with protein product 608960 ADP-ribosylation factor-like 5 ARL5 NA Standard NM_012097 NA Approved uc002txx.1 Q9Y689 OTTHUMG00000131887 ENST00000487723.1:c.361+29T>A chr2.hg19:g.152684615A>T NA Q580I5 hg19 0.02 16.478829 CCAxCCC COVERED NOVEL ARL5A-007 PUTATIVE basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000338354.1 1 73.617665 KEEP 0 0 0 245 7340 AA 1 1 0 - 12 60 424 0 0 24.725106 390 60 12998 876 ENST00000487723.1 0.029851 1 CACNB4 785 __UNKNOWN__ __UNKNOWN__ 2 152954985 152954985 __UNKNOWN__ Intron SNP G G C rs34347895 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:152954985G>C ENST00000201943.5 - 2 75 CACNB4_ENST00000427385.1_Intron|AC079790.2_ENST00000420365.1_RNA|CACNB4_ENST00000539935.1_Intron O00305 CACB4_HUMAN calcium channel, voltage-dependent, beta 4 subunit NA NA adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|cAMP metabolic process (GO:0046058)|cellular calcium ion homeostasis (GO:0006874)|detection of light stimulus involved in visual perception (GO:0050908)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|membrane depolarization (GO:0051899)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|neuronal action potential propagation (GO:0019227)|Peyer's patch development (GO:0048541)|regulation of voltage-gated calcium channel activity (GO:1901385)|spleen development (GO:0048536)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)|transport (GO:0006810) cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated calcium channel complex (GO:0005891) voltage-gated calcium channel activity (GO:0005245) endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2) 11 BRCA - Breast invasive adenocarcinoma(221;0.156) Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661) CGCAGAGCGGGGCGACCACCC 0.692 NA G||| 1398 0.279153 0.233 0.098 5008 , , NA 9790 0.5675 NA 0.1074 False NA ,,, NA NA NA 2504 0.3497 NA NA NA NA 0 G ,, 320,1062 45,230,416 9 10 10 ,, -1.2 0 2 dbSNP_126 10 339,2841 27,285,1278 no intron,intron,intron CACNB4 NM_000726.3,NM_001005746.2,NM_001145798.1 ,, 72,515,1694 CC,CG,GG 10.6604,23.1548,14.4454 ,, ,, 152954985 659,3903 691 1590 2281 SO:0001627 intron_variant AF038852 CCDS46426.1, CCDS46427.1, CCDS46428.1, CCDS54409.1 2q22-q23 2009-09-04 ENSG00000182389 ENSG00000182389 785 Calcium channel subunits 1404 protein-coding gene gene with protein product 601949 NA 9628818 Standard NM_000726.3 NM_000726 NA Approved EJM4 uc002tya.3 O00305 OTTHUMG00000155091 ENST00000201943.5:c.64-58C>G chr2.hg19:g.152954985G>C NA A7BJ74|A8K1Y4|B4DG40|O60515|Q6B000|Q96L40 hg19 CCDS54409.1 0.02 1.82713 CGGxGCG COVERED NOVEL CACNB4-004 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000338427.2 0 6.62103 KEEP 0 0 0 22 764 GG 0.999879 0.992805 0 - 4 60 134 0 0 8.813858 60 60 2197 94 ENST00000201943.5 0.0625 0.992926 STAM2 10254 __UNKNOWN__ __UNKNOWN__ 2 152976002 152976002 __UNKNOWN__ 3'UTR SNP G G C rs10497094 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:152976002G>C ENST00000263904.4 - 0 3013 NM_005843.4 NP_005834.4 O75886 STAM2_HUMAN signal transducing adaptor molecule (SH3 domain and ITAM motif) 2 NA NA endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059) cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634) endometrium(3)|large_intestine(4)|lung(8)|ovary(1) 16 BRCA - Breast invasive adenocarcinoma(221;0.22) AACGGTACTTGAATCACCTCT 0.358 NA G||| 1317 0.262979 0.1997 0.0706 5008 , , NA 20229 0.5813 NA 0.0815 False NA ,,, NA NA NA 2504 0.3436 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF042274 CCDS2196.1 2q23.3 2009-04-29 ENSG00000115145 ENSG00000115145 10254 11358 protein-coding gene gene with protein product HSE1 homolog (S. cerevisiae) 606244 NA 10899310, 10993906 Standard NM_005843 NM_005843 NA Approved Hbp uc002tyc.4 O75886 OTTHUMG00000131885 ENST00000263904.4:c.*1086C>G chr2.hg19:g.152976002G>C NA A8K8A0|D3DPA1|Q7LDQ0|Q9UF58 hg19 CCDS2196.1 0.02 12.135351 CTTxAAT COVERED NOVEL STAM2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254835.2 5 11.136071 KEEP 0 0 0 37 1312 GG 1 1 0 - 16 60 598 0 0 41.59098 235 60 8987 345 ENST00000263904.4 0.063745 1 FMNL2 114793 __UNKNOWN__ __UNKNOWN__ 2 153246995 153246995 __UNKNOWN__ Intron SNP A A G rs111529407 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:153246995A>G ENST00000288670.9 + 1 484 NM_052905.3 NP_443137.2 Q96PY5 FMNL2_HUMAN formin-like 2 NA NA cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604) cytoplasm (GO:0005737) central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 23 GACCTGGACAATGAGACTCGC 0.468 NA A||| 515 0.102835 0.1172 0.2233 5008 , , NA 21333 0.127 NA 0.0477 False NA ,,, NA NA NA 2504 0.0297 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB067489 CCDS46429.1 2q23.3 2008-02-05 2003-12-02 2003-12-03 ENSG00000157827 ENSG00000157827 114793 18267 protein-coding gene gene with protein product formin homology 2 domain containing 2 FHOD2 NA Standard NM_052905 XM_005246263 NA Approved KIAA1902 uc002tye.3 Q96PY5 OTTHUMG00000154035 ENST00000288670.9:c.117+54761A>G chr2.hg19:g.153246995A>G NA B2RZH5|Q14CC9|Q4ZG52|Q8N3E0 hg19 CCDS46429.1 0.02 2.126277 ACAxTGA COVERED NOVEL FMNL2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000333582.2 0 3.009336 KEEP 0 0 0 10 320 AA 0.992708 0.985685 0 + 5 60 182 0 0 12.967119 59 60 2171 90 ENST00000288670.9 0.078125 0.992926 FMNL2 114793 __UNKNOWN__ __UNKNOWN__ 2 153405594 153405594 __UNKNOWN__ Silent SNP G G A rs1155779 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:153405594G>A ENST00000288670.9 + 4 709 c.342G>A c.(340-342)ttG>ttA p.L114L NM_052905.3 NP_443137.2 Q96PY5 FMNL2_HUMAN formin-like 2 114 GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}. NA cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604) cytoplasm (GO:0005737) central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 23 AAATTTCTTTGAGAACTAACC 0.343 NA A||| 3267 0.652356 0.4902 0.6715 5008 , , NA 13509 0.7976 NA 0.5865 False NA ,,, NA NA NA 2504 0.7761 NA NA NA NA 0 A 1794,1830 449,896,467 71 65 67 342 5.9 1 2 dbSNP_87 67 4816,3328 1406,2004,662 no coding-synonymous FMNL2 NM_052905.3 1855,2900,1129 AA,AG,GG 40.8644,49.5033,43.8307 114/1093 153405594 6610,5158 1812 4072 5884 SO:0001819 synonymous_variant AB067489 CCDS46429.1 2q23.3 2008-02-05 2003-12-02 2003-12-03 ENSG00000157827 ENSG00000157827 114793 18267 protein-coding gene gene with protein product formin homology 2 domain containing 2 FHOD2 NA Standard NM_052905 XM_005246263 NA Approved KIAA1902 uc002tye.3 Q96PY5 OTTHUMG00000154035 ENST00000288670.9:c.342G>A chr2.hg19:g.153405594G>A NA B2RZH5|Q14CC9|Q4ZG52|Q8N3E0 hg19 CCDS46429.1 0.02 1.590219 TTTxAGA COVERED NOVEL FMNL2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000333582.2 0 14.747807 KEEP 0 0 0 49 1723 GG 1 0.999862 0 + 4 60 141 0 0 8.885497 87 60 3364 181 ENST00000288670.9 0.043956 0.999862 FMNL2 114793 __UNKNOWN__ __UNKNOWN__ 2 153468187 153468187 __UNKNOWN__ Intron SNP C C T rs2304558 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:153468187C>T ENST00000288670.9 + 11 1429 NM_052905.3 NP_443137.2 Q96PY5 FMNL2_HUMAN formin-like 2 NA NA cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604) cytoplasm (GO:0005737) central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 23 CTCAAAGGTACGCTTCCATAG 0.433 NA c||| 472 0.0942492 0.1203 0.0576 5008 , , NA 19758 0.0873 NA 0.0855 False NA ,,, NA NA NA 2504 0.1012 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB067489 CCDS46429.1 2q23.3 2008-02-05 2003-12-02 2003-12-03 ENSG00000157827 ENSG00000157827 114793 18267 protein-coding gene gene with protein product formin homology 2 domain containing 2 FHOD2 NA Standard NM_052905 XM_005246263 NA Approved KIAA1902 uc002tye.3 Q96PY5 OTTHUMG00000154035 ENST00000288670.9:c.1062+68C>T chr2.hg19:g.153468187C>T NA B2RZH5|Q14CC9|Q4ZG52|Q8N3E0 hg19 CCDS46429.1 0.02 9.392052 GTAxGCT COVERED NOVEL FMNL2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000333582.2 2 13.241477 KEEP 0 0 0 44 1488 CC 1 1 0 + 9 60 344 0 0 22.529073 203 60 6971 307 ENST00000288670.9 0.042453 1 FMNL2 114793 __UNKNOWN__ __UNKNOWN__ 2 153505376 153505376 __UNKNOWN__ 3'UTR SNP T T C rs2463 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:153505376T>C ENST00000475377.2 + 0 2687 FMNL2_ENST00000288670.9_3'UTR Q96PY5 FMNL2_HUMAN formin-like 2 NA NA cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604) cytoplasm (GO:0005737) central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 23 GGCTAAGTTTTTCATGCATTT 0.348 NA T||| 156 0.0311502 0.0 0.0043 5008 , , NA 19606 0.0794 NA 0.0129 False NA ,,, NA NA NA 2504 0.0613 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB067489 CCDS46429.1 2q23.3 2008-02-05 2003-12-02 2003-12-03 ENSG00000157827 ENSG00000157827 114793 18267 protein-coding gene gene with protein product formin homology 2 domain containing 2 FHOD2 NA Standard NM_052905 XM_005246263 NA Approved KIAA1902 uc002tye.3 Q96PY5 OTTHUMG00000154035 ENST00000475377.2:c.*1101T>C chr2.hg19:g.153505376T>C NA B2RZH5|Q14CC9|Q4ZG52|Q8N3E0 hg19 0.02 6.83423 TTTxTCA COVERED NOVEL FMNL2-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000333583.3 0 13.239529 KEEP 0 0 0 44 1412 TT 1 1 0 + 7 60 275 0 0 17.712191 190 60 6829 290 ENST00000475377.2 0.035533 1 PRPF40A 55660 __UNKNOWN__ __UNKNOWN__ 2 153508885 153508885 __UNKNOWN__ 3'UTR SNP C C G rs34419942 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:153508885C>G ENST00000410080.1 - 0 7269 NM_017892.3 NP_060362.3 O75400 PR40A_HUMAN PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae) NA NA cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|mRNA processing (GO:0006397)|regulation of cell shape (GO:0008360)|regulation of cytokinesis (GO:0032465)|RNA splicing (GO:0008380) cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634) poly(A) RNA binding (GO:0044822) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1) 21 TATTTCAGCCCTATTCAAAAA 0.378 NA C||| 428 0.0854633 0.0197 0.0504 5008 , , NA 21193 0.124 NA 0.1064 False NA ,,, NA NA NA 2504 0.138 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF049523 CCDS46430.1 2q23.3 2010-01-25 2007-01-12 2006-01-13 ENSG00000196504 ENSG00000196504 55660 16463 protein-coding gene gene with protein product 612941 formin-binding protein 3, formin binding protein 3, PRP40 pre-mRNA processing factor 40 homolog A (yeast) FNBP3 NA 9724750, 12460579 Standard XM_371575 NM_017892 NA Approved FLJ20585, FBP11, HYPA, NY-REN-6, HIP10, FBP-11, FLAF1, Prp40 uc002tyh.4 O75400 OTTHUMG00000154031 ENST00000410080.1:c.*3935G>C chr2.hg19:g.153508885C>G NA O43856|O75404|Q8TBQ1|Q9H782|Q9NWU9|Q9P0Q2|Q9Y5A8 hg19 CCDS46430.1 0.02 6.167343 GCCxTAT COVERED NOVEL PRPF40A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000333559.2 0 10.527102 KEEP 0 0 0 35 1242 CC 0.999999 0.999999 0 - 7 60 240 0 0 14.48391 175 60 6472 257 ENST00000410080.1 0.038462 1 GALNT13 114805 __UNKNOWN__ __UNKNOWN__ 2 154800999 154800999 __UNKNOWN__ 5'UTR SNP T T C rs1401518 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:154800999T>C ENST00000392825.3 + 0 556 NM_052917.2 NP_443149.2 Q8IUC8 GLT13_HUMAN polypeptide N-acetylgalactosaminyltransferase 13 NA NA cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021) carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653) NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 65 TAACTAGAAATCAAGGAAAGA 0.418 NA T||| 1717 0.342851 0.3903 0.111 5008 , , NA 18773 0.745 NA 0.0606 False NA ,,, NA NA NA 2504 0.319 NA NA NA NA 0 T 1514,2892 480.8+/-358.9 280,954,969 179 165 170 3.1 1 2 dbSNP_88 170 559,8041 152.7+/-207.2 22,515,3763 no utr-5 GALNT13 NM_052917.2 302,1469,4732 CC,CT,TT 6.5,34.3622,15.9388 154800999 2073,10933 2203 4300 6503 SO:0001623 5_prime_UTR_variant AB067505 CCDS2199.1 2q24.1 2014-03-13 2014-03-13 ENSG00000144278 ENSG00000144278 114805 2.4.1.41 Glycosyltransferase family 2 domain containing 23242 protein-coding gene gene with protein product UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13, polypeptide GalNAc transferase 13 608369 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) NA 11572484, 12407114 Standard NM_052917 XM_005246267 NA Approved KIAA1918, GalNAc-T13 uc002tyr.4 Q8IUC8 OTTHUMG00000131917 ENST00000392825.3:c.-12T>C chr2.hg19:g.154800999T>C NA Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5 hg19 CCDS2199.1 0.02 27.460841 AAAxCAA COVERED NOVEL GALNT13-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254870.2 1 17.45223 KEEP 0 0 0 58 1868 TT 1 1 0 + 22 60 788 0 0 47.30801 648 60 23622 867 ENST00000392825.3 0.032836 1 GPD2 2820 __UNKNOWN__ __UNKNOWN__ 2 157441301 157441301 __UNKNOWN__ 3'UTR SNP A A G rs79957763 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:157441301A>G ENST00000310454.6 + 0 4427 NM_001083112.2 NP_001076581.2 P43304 GPDM_HUMAN glycerol-3-phosphate dehydrogenase 2 (mitochondrial) NA NA camera-type eye development (GO:0043010)|cellular lipid metabolic process (GO:0044255)|gluconeogenesis (GO:0006094)|glycerol catabolic process (GO:0019563)|glycerol-3-phosphate metabolic process (GO:0006072)|multicellular organism growth (GO:0035264)|small molecule metabolic process (GO:0044281) glycerol-3-phosphate dehydrogenase complex (GO:0009331)|mitochondrial inner membrane (GO:0005743) calcium ion binding (GO:0005509)|glycerol-3-phosphate dehydrogenase activity (GO:0004368)|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity (GO:0052591) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1) 22 GAACCCAGTGACACTTAATAG 0.318 NA A||| 25 0.00499201 0.0008 0.0 5008 , , NA 19075 0.0228 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS2202.1 2q24.1 2013-01-10 ENSG00000115159 ENSG00000115159 2820 1.1.1.8 EF-hand domain containing 4456 protein-coding gene gene with protein product 138430 NA Standard NM_001083112 NA Approved uc002tzd.4 P43304 OTTHUMG00000131951 ENST00000310454.6:c.*1871A>G chr2.hg19:g.157441301A>G NA A8K4V0|B3KSA9|Q59FR1|Q9HAP9 hg19 CCDS2202.1 0.02 4.73443 GTGxCAC COVERED NOVEL GPD2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254910.3 1 7.496666 KEEP 0 1 8 28 871 AA 0.999997 0.999997 0 + 8 60 303 0 0 21.068651 122 60 4332 191 ENST00000310454.6 0.061538 1 ERMN 57471 __UNKNOWN__ __UNKNOWN__ 2 158182083 158182083 __UNKNOWN__ Silent SNP T T C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:158182083T>C ENST00000410096.1 - 1 363 c.72A>G c.(70-72)caA>caG p.Q24Q ERMN_ENST00000420719.2_Silent_p.Q24Q|ERMN_ENST00000409925.1_Silent_p.Q24Q|ERMN_ENST00000397283.2_Silent_p.Q37Q|ERMN_ENST00000409216.1_Silent_p.Q24Q NM_020711.1 NP_065762.1 Q8TAM6 ERMIN_HUMAN ermin, ERM-like protein 24 NA actin filament organization (GO:0007015)|morphogenesis of a branching structure (GO:0001763)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360) cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|internode region of axon (GO:0033269)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|paranode region of axon (GO:0033270) endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 TAGTGATTGTTTGTTGACCGT 0.488 NA NA NA NA NA NA NA NA NA NA NA 0 248 220 229 NA NA 2 NA 158182083 1909 4124 6033 SO:0001819 synonymous_variant AB033015 CCDS42764.1, CCDS46431.1 2q24 2008-02-05 2008-01-15 2008-01-15 ENSG00000136541 ENSG00000136541 57471 29208 protein-coding gene gene with protein product juxtanodin, ermin 610072 KIAA1189 KIAA1189 NA 16051705, 16421295 Standard NM_001009959 NM_020711 NA Approved JN, ERMIN uc002tzi.3 Q8TAM6 OTTHUMG00000153843 ENST00000410096.1:c.72A>G chr2.hg19:g.158182083T>C NA B4DKA6|Q9ULN1 hg19 CCDS46431.1 0.02 20.15831 TGTxTGT COVERED NOVEL ERMN-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000332659.1 2 13.539249 KEEP 0 0 0 45 1379 TT 1 1 0 - 29 60 1120 0 0 80.187994 386 60 13948 553 ENST00000410096.1 0.06988 1 CYTIP 9595 __UNKNOWN__ __UNKNOWN__ 2 158271239 158271239 __UNKNOWN__ 3'UTR SNP T T G rs16841706 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:158271239T>G ENST00000264192.3 - 0 2151 NM_004288.4 NP_004279.3 O60759 CYTIP_HUMAN cytohesin 1 interacting protein NA NA regulation of cell adhesion (GO:0030155) cell cortex (GO:0005938)|cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634) breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 15 CAATGGATATTAAATAAAACA 0.328 NA T||| 240 0.0479233 0.0015 0.1167 5008 , , NA 17454 0.1042 NA 0.005 False NA ,,, NA NA NA 2504 0.0481 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L06633 CCDS2204.1 2q11.2 2011-09-08 2008-08-14 2008-08-19 ENSG00000115165 ENSG00000115165 9595 9506 protein-coding gene gene with protein product cytohesin binding protein HE, cytohesin binder and regulator 604448 pleckstrin homology, Sec7 and coiled-coil domains, binding protein PSCDBP NA 18926288, 10343115, 11867758, 20530790, 21562043 Standard NM_004288 NM_004288 NA Approved B3-1, HE, CYBR, CASP, CYTHIP uc002tzj.1 O60759 OTTHUMG00000154551 ENST00000264192.3:c.*950A>C chr2.hg19:g.158271239T>G NA B4DWH9|Q15630|Q8NE32 hg19 CCDS2204.1 0.02 4.995523 TATxAAA COVERED NOVEL CYTIP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254926.1 2 6.283222 KEEP 0 0 0 21 634 TT 0.999869 0.999868 0 - 8 60 315 0 0 22.46563 115 60 4159 171 ENST00000264192.3 0.065041 0.999999 CYTIP 9595 __UNKNOWN__ __UNKNOWN__ 2 158271547 158271547 __UNKNOWN__ 3'UTR SNP A A G rs3739113 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:158271547A>G ENST00000264192.3 - 0 1843 NM_004288.4 NP_004279.3 O60759 CYTIP_HUMAN cytohesin 1 interacting protein NA NA regulation of cell adhesion (GO:0030155) cell cortex (GO:0005938)|cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634) breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 15 ACTGTCTATAAAAATGACTTT 0.403 NA A||| 238 0.047524 0.0015 0.1153 5008 , , NA 17148 0.1042 NA 0.005 False NA ,,, NA NA NA 2504 0.047 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L06633 CCDS2204.1 2q11.2 2011-09-08 2008-08-14 2008-08-19 ENSG00000115165 ENSG00000115165 9595 9506 protein-coding gene gene with protein product cytohesin binding protein HE, cytohesin binder and regulator 604448 pleckstrin homology, Sec7 and coiled-coil domains, binding protein PSCDBP NA 18926288, 10343115, 11867758, 20530790, 21562043 Standard NM_004288 NM_004288 NA Approved B3-1, HE, CYBR, CASP, CYTHIP uc002tzj.1 O60759 OTTHUMG00000154551 ENST00000264192.3:c.*642T>C chr2.hg19:g.158271547A>G NA B4DWH9|Q15630|Q8NE32 hg19 CCDS2204.1 0.02 7.541068 ATAxAAA COVERED NOVEL CYTIP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254926.1 3 8.124209 KEEP 0 0 0 27 861 AA 0.999988 0.999988 0 - 11 60 391 0 0 26.963788 151 60 5446 228 ENST00000264192.3 0.067901 1 CYTIP 9595 __UNKNOWN__ __UNKNOWN__ 2 158287329 158287329 __UNKNOWN__ Intron SNP T T C rs201867902 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:158287329T>C ENST00000264192.3 - 4 504 CYTIP_ENST00000540637.1_Intron NM_004288.4 NP_004279.3 O60759 CYTIP_HUMAN cytohesin 1 interacting protein NA NA regulation of cell adhesion (GO:0030155) cell cortex (GO:0005938)|cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634) breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 15 TTTATTTTCTTTCCATTTAAA 0.373 NA T||| 2 0.000399361 0.0 0.0 5008 , , NA 19132 0.002 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 20 21 21 NA NA 2 NA 158287329 2196 4299 6495 SO:0001627 intron_variant L06633 CCDS2204.1 2q11.2 2011-09-08 2008-08-14 2008-08-19 ENSG00000115165 ENSG00000115165 9595 9506 protein-coding gene gene with protein product cytohesin binding protein HE, cytohesin binder and regulator 604448 pleckstrin homology, Sec7 and coiled-coil domains, binding protein PSCDBP NA 18926288, 10343115, 11867758, 20530790, 21562043 Standard NM_004288 NM_004288 NA Approved B3-1, HE, CYBR, CASP, CYTHIP uc002tzj.1 O60759 OTTHUMG00000154551 ENST00000264192.3:c.382+42A>G chr2.hg19:g.158287329T>C NA B4DWH9|Q15630|Q8NE32 hg19 CCDS2204.1 0.02 11.632171 TCTxTCC COVERED NOVEL CYTIP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254926.1 3 14.142258 KEEP 0 0 0 47 1470 TT 1 1 0 - 21 60 768 0 0 53.959316 276 60 9838 398 ENST00000264192.3 0.070707 1 TANC1 85461 __UNKNOWN__ __UNKNOWN__ 2 160073881 160073881 __UNKNOWN__ Intron SNP C C T rs1035058 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:160073881C>T ENST00000263635.6 + 20 3481 TANC1_ENST00000454300.1_Intron NM_001145909.1|NM_033394.2 NP_001139381.1|NP_203752.2 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 NA NA dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542) axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211) breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 77 acagagcccccgcaggttcaa 0.517 NA C||| 1482 0.295927 0.4032 0.0821 5008 , , NA 20952 0.4901 NA 0.0924 False NA ,,, NA NA NA 2504 0.3119 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB051515 CCDS42766.1 2q24.2 2013-01-11 ENSG00000115183 ENSG00000115183 85461 Ankyrin repeat domain containing, Tetratricopeptide (TTC) repeat domain containing 29364 protein-coding gene gene with protein product rolling pebbles homolog B (Drosophila) 611397 NA 15673434 Standard NM_033394 NA Approved KIAA1728, ROLSB uc002uag.3 Q9C0D5 OTTHUMG00000153945 ENST00000263635.6:c.3245-127C>T chr2.hg19:g.160073881C>T NA C9JD88|Q49AI8 hg19 CCDS42766.1 0.02 2.273405 CCCxGCA COVERED NOVEL TANC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000333135.1 1 3.912194 KEEP 0 0 0 13 432 CC 0.994391 0.991133 0 + 8 60 307 0 0 23.767838 61 60 2170 89 ENST00000263635.6 0.115942 0.996724 TANC1 85461 __UNKNOWN__ __UNKNOWN__ 2 160087882 160087882 __UNKNOWN__ 3'UTR SNP G G A rs17576859 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:160087882G>A ENST00000263635.6 + 0 6182 TANC1_ENST00000454300.1_3'UTR NM_001145909.1|NM_033394.2 NP_001139381.1|NP_203752.2 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 NA NA dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542) axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211) breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 77 TATTGTTCAAGAGTAACAGGT 0.353 NA G||| 513 0.102436 0.0227 0.0187 5008 , , NA 16337 0.2411 NA 0.0557 False NA ,,, NA NA NA 2504 0.1748 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB051515 CCDS42766.1 2q24.2 2013-01-11 ENSG00000115183 ENSG00000115183 85461 Ankyrin repeat domain containing, Tetratricopeptide (TTC) repeat domain containing 29364 protein-coding gene gene with protein product rolling pebbles homolog B (Drosophila) 611397 NA 15673434 Standard NM_033394 NA Approved KIAA1728, ROLSB uc002uag.3 Q9C0D5 OTTHUMG00000153945 ENST00000263635.6:c.*359G>A chr2.hg19:g.160087882G>A NA C9JD88|Q49AI8 hg19 CCDS42766.1 0.02 8.770611 CAAxAGT COVERED NOVEL TANC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000333135.1 1 11.135529 KEEP 0 0 0 37 1281 GG 1 1 0 + 23 60 819 1 0 61.72633 180 60 6800 276 ENST00000263635.6 0.1133 1 BAZ2B 29994 __UNKNOWN__ __UNKNOWN__ 2 160285660 160285660 __UNKNOWN__ Intron SNP T T A rs10754963 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:160285660T>A ENST00000392783.2 - 11 2751 BAZ2B_ENST00000355831.2_Intron|BAZ2B_ENST00000392782.1_Intron|BAZ2B_ENST00000343439.5_Intron NM_013450.2 NP_038478.2 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|zinc ion binding (GO:0008270) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1) 82 TACATCAAACTTGCATAAATA 0.358 NA A||| 1670 0.333466 0.2458 0.2983 5008 , , NA 15790 0.3938 NA 0.496 False NA ,,, NA NA NA 2504 0.2474 NA NA NA NA 0 A 947,2683 127,693,995 54 51 52 1.2 0 2 dbSNP_120 52 3873,4261 942,1989,1136 no intron BAZ2B NM_013450.2 1069,2682,2131 AA,AT,TT 47.6149,26.0882,40.9725 160285660 4820,6944 1815 4067 5882 SO:0001627 intron_variant AB032255 CCDS2209.2, CCDS74594.1 2q24.2 2013-01-28 ENSG00000123636 ENSG00000123636 29994 Zinc fingers, PHD-type 963 protein-coding gene gene with protein product 605683 NA 10662543 Standard XM_005246488 NA Approved WALp4 uc002uao.3 Q9UIF8 OTTHUMG00000132027 ENST00000392783.2:c.2255+50A>T chr2.hg19:g.160285660T>A NA D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8 hg19 CCDS2209.2 0.02 4.683781 AACxTGC COVERED NOVEL BAZ2B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255037.2 1 8.123863 KEEP 0 0 0 27 855 TT 0.999988 0.999983 0 - 9 60 347 0 0 25.358325 104 60 3880 183 ENST00000392783.2 0.079646 0.999995 BAZ2B 29994 __UNKNOWN__ __UNKNOWN__ 2 160304741 160304741 __UNKNOWN__ Intron SNP A A T rs12470533 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:160304741A>T ENST00000392783.2 - 5 998 BAZ2B_ENST00000355831.2_Intron|BAZ2B_ENST00000392782.1_Intron|BAZ2B_ENST00000343439.5_Intron NM_013450.2 NP_038478.2 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|zinc ion binding (GO:0008270) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1) 82 TCACTTATGTAAATGTGGATA 0.318 NA T||| 1718 0.343051 0.3215 0.2997 5008 , , NA 19189 0.3938 NA 0.4652 False NA ,,, NA NA NA 2504 0.2249 NA NA NA NA 0 T 1231,2415 213,805,805 79 73 75 4.1 0 2 dbSNP_120 75 3711,4445 856,1999,1223 no intron BAZ2B NM_013450.2 1069,2804,2028 TT,TA,AA 45.5002,33.763,41.8743 160304741 4942,6860 1823 4078 5901 SO:0001627 intron_variant AB032255 CCDS2209.2, CCDS74594.1 2q24.2 2013-01-28 ENSG00000123636 ENSG00000123636 29994 Zinc fingers, PHD-type 963 protein-coding gene gene with protein product 605683 NA 10662543 Standard XM_005246488 NA Approved WALp4 uc002uao.3 Q9UIF8 OTTHUMG00000132027 ENST00000392783.2:c.502+11T>A chr2.hg19:g.160304741A>T NA D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8 hg19 CCDS2209.2 0.02 1.528913 TGTxAAT COVERED NOVEL BAZ2B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255037.2 1 4.513157 KEEP 0 0 0 15 459 AA 0.99649 0.996439 0 - 6 60 212 0 0 14.263619 92 60 3309 123 ENST00000392783.2 0.061224 0.999948 BAZ2B 29994 __UNKNOWN__ __UNKNOWN__ 2 160318403 160318403 __UNKNOWN__ Intron SNP C C A rs12471541 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:160318403C>A ENST00000392783.2 - 4 641 BAZ2B_ENST00000355831.2_Intron|BAZ2B_ENST00000392782.1_Intron|BAZ2B_ENST00000343439.5_Intron|BAZ2B_ENST00000483316.1_5'UTR NM_013450.2 NP_038478.2 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|zinc ion binding (GO:0008270) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1) 82 TACAGTTCTGCGATGCAATAA 0.428 NA A||| 2074 0.414137 0.3578 0.3545 5008 , , NA 20772 0.4147 NA 0.5795 False NA ,,, NA NA NA 2504 0.362 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB032255 CCDS2209.2, CCDS74594.1 2q24.2 2013-01-28 ENSG00000123636 ENSG00000123636 29994 Zinc fingers, PHD-type 963 protein-coding gene gene with protein product 605683 NA 10662543 Standard XM_005246488 NA Approved WALp4 uc002uao.3 Q9UIF8 OTTHUMG00000132027 ENST00000392783.2:c.146-8091G>T chr2.hg19:g.160318403C>A NA D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8 hg19 CCDS2209.2 0.02 14.815507 CTGxGAT COVERED NOVEL BAZ2B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255037.2 2 7.628384 KEEP 0 3 90 57 2009 CC 1 1 0 - 28 60 1051 0 0 76.388602 314 60 11239 486 ENST00000392783.2 0.081871 1 MARCH7 64844 __UNKNOWN__ __UNKNOWN__ 2 160604452 160604452 __UNKNOWN__ Silent SNP C C T rs11555185 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:160604452C>T ENST00000409591.1 + 4 616 c.537C>T c.(535-537)gaC>gaT p.D179D MARCH7_ENST00000259050.4_Silent_p.D217D|MARCH7_ENST00000539065.1_Silent_p.D161D|MARCH7_ENST00000473749.1_3'UTR|MARCH7_ENST00000409175.1_Silent_p.D217D Q9H992 MARH7_HUMAN membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase 217 Ser-rich. NA protein ubiquitination (GO:0016567) ligase activity (GO:0016874)|zinc ion binding (GO:0008270) p.D217D(1) breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2) 18 GTTCTAGGGACTCCAGAAATT 0.378 NA C||| 1104 0.220447 0.0287 0.4928 5008 , , NA 17238 0.2698 NA 0.33 False NA ,,, NA NA NA 2504 0.1227 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) C 305,4101 165.1+/-196.6 10,285,1908 84 85 85 651 2.8 0.9 2 dbSNP_120 85 2715,5885 431.8+/-356.9 425,1865,2010 no coding-synonymous MARCH7 NM_022826.2 435,2150,3918 TT,TC,CC 31.5698,6.9224,23.2201 217/705 160604452 3020,9986 2203 4300 6503 SO:0001819 synonymous_variant AK022973 CCDS2210.1, CCDS63038.1, CCDS63039.1 2q24.2 2013-01-09 2012-02-23 2005-01-27 ENSG00000136536 ENSG00000136536 64844 MARCH membrane-associated ring fingers, RING-type (C3HC4) zinc fingers 17393 protein-coding gene gene with protein product 613334 axotrophin, membrane-associated ring finger (C3HC4) 7 AXOT NA 14722266 Standard NM_022826 XM_005246773 NA Approved MARCH-VII, RNF177 uc002uax.3 Q9H992 OTTHUMG00000132029 ENST00000409591.1:c.537C>T chr2.hg19:g.160604452C>T NA A8K9X1|B7Z7P5|D3DPB0|Q53GQ1|Q9BTR9 hg19 0.02 28.687938 GGAxTCC COVERED NOVEL MARCH7-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000333702.1 3 24.922021 KEEP 0 4 126 127 4604 CC 1 1 0 + 57 60 2118 0 0 155.772768 577 60 21891 933 ENST00000409591.1 0.089905 1 MARCH7 64844 __UNKNOWN__ __UNKNOWN__ 2 160626622 160626622 __UNKNOWN__ 3'UTR SNP C C T rs1042666 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:160626622C>T ENST00000259050.4 + 0 5006 CD302_ENST00000480212.1_5'UTR|CD302_ENST00000259053.4_3'UTR NM_001282805.1|NM_001282807.1|NM_022826.2 NP_001269734.1|NP_001269736.1|NP_073737.1 Q9H992 MARH7_HUMAN membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase NA NA protein ubiquitination (GO:0016567) ligase activity (GO:0016874)|zinc ion binding (GO:0008270) breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2) 18 TCTTTTAGTTCACATAATACG 0.383 NA C||| 1297 0.258986 0.0325 0.5375 5008 , , NA 19210 0.2946 NA 0.4175 False NA ,,, NA NA NA 2504 0.1677 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK022973 CCDS2210.1, CCDS63038.1, CCDS63039.1 2q24.2 2013-01-09 2012-02-23 2005-01-27 ENSG00000136536 ENSG00000136536 64844 MARCH membrane-associated ring fingers, RING-type (C3HC4) zinc fingers 17393 protein-coding gene gene with protein product 613334 axotrophin, membrane-associated ring finger (C3HC4) 7 AXOT NA 14722266 Standard NM_022826 XM_005246773 NA Approved MARCH-VII, RNF177 uc002uax.3 Q9H992 OTTHUMG00000132029 ENST00000259050.4:c.*2769C>T chr2.hg19:g.160626622C>T NA A8K9X1|B7Z7P5|D3DPB0|Q53GQ1|Q9BTR9 hg19 CCDS2210.1 0.02 4.375375 GTTxACA COVERED NOVEL MARCH7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255040.3 1 5.184178 KEEP 0 2 53 36 1256 CC 1 0.999996 0 + 7 60 249 0 0 16.817369 107 60 4025 173 ENST00000259050.4 0.061404 0.999996 MARCH7 64844 __UNKNOWN__ __UNKNOWN__ 2 160626898 160626898 __UNKNOWN__ 3'UTR SNP T T C rs17815029 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:160626898T>C ENST00000259050.4 + 0 5282 CD302_ENST00000480212.1_5'UTR|CD302_ENST00000259053.4_3'UTR NM_001282805.1|NM_001282807.1|NM_022826.2 NP_001269734.1|NP_001269736.1|NP_073737.1 Q9H992 MARH7_HUMAN membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase NA NA protein ubiquitination (GO:0016567) ligase activity (GO:0016874)|zinc ion binding (GO:0008270) breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2) 18 ACTTTTTAGTTACTCATGTCT 0.378 NA T||| 1297 0.258986 0.0325 0.5389 5008 , , NA 20563 0.2937 NA 0.4175 False NA ,,, NA NA NA 2504 0.1677 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK022973 CCDS2210.1, CCDS63038.1, CCDS63039.1 2q24.2 2013-01-09 2012-02-23 2005-01-27 ENSG00000136536 ENSG00000136536 64844 MARCH membrane-associated ring fingers, RING-type (C3HC4) zinc fingers 17393 protein-coding gene gene with protein product 613334 axotrophin, membrane-associated ring finger (C3HC4) 7 AXOT NA 14722266 Standard NM_022826 XM_005246773 NA Approved MARCH-VII, RNF177 uc002uax.3 Q9H992 OTTHUMG00000132029 ENST00000259050.4:c.*3045T>C chr2.hg19:g.160626898T>C NA A8K9X1|B7Z7P5|D3DPB0|Q53GQ1|Q9BTR9 hg19 CCDS2210.1 0.02 2.245087 AGTxACT COVERED NOVEL MARCH7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255040.3 1 5.416546 KEEP 0 0 0 18 566 TT 0.999859 0.999789 0 + 11 60 414 0 0 31.808729 85 60 3028 129 ENST00000259050.4 0.114583 0.99993 MARCH7 64844 __UNKNOWN__ __UNKNOWN__ 2 160626980 160626980 __UNKNOWN__ 3'UTR SNP G G A rs17815040 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:160626980G>A ENST00000259050.4 + 0 5364 CD302_ENST00000480212.1_5'UTR|CD302_ENST00000259053.4_3'UTR NM_001282805.1|NM_001282807.1|NM_022826.2 NP_001269734.1|NP_001269736.1|NP_073737.1 Q9H992 MARH7_HUMAN membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase NA NA protein ubiquitination (GO:0016567) ligase activity (GO:0016874)|zinc ion binding (GO:0008270) breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2) 18 GACTACACAAGCTGGAACTTT 0.358 NA G||| 1097 0.21905 0.0287 0.4885 5008 , , NA 21084 0.2698 NA 0.327 False NA ,,, NA NA NA 2504 0.1217 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK022973 CCDS2210.1, CCDS63038.1, CCDS63039.1 2q24.2 2013-01-09 2012-02-23 2005-01-27 ENSG00000136536 ENSG00000136536 64844 MARCH membrane-associated ring fingers, RING-type (C3HC4) zinc fingers 17393 protein-coding gene gene with protein product 613334 axotrophin, membrane-associated ring finger (C3HC4) 7 AXOT NA 14722266 Standard NM_022826 XM_005246773 NA Approved MARCH-VII, RNF177 uc002uax.3 Q9H992 OTTHUMG00000132029 ENST00000259050.4:c.*3127G>A chr2.hg19:g.160626980G>A NA A8K9X1|B7Z7P5|D3DPB0|Q53GQ1|Q9BTR9 hg19 CCDS2210.1 0.02 1.745747 CAAxCTG COVERED NOVEL MARCH7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255040.3 0 5.116677 KEEP 0 0 0 17 602 GG 0.999366 0.999296 0 + 11 60 390 0 0 29.408845 85 60 3186 128 ENST00000259050.4 0.114583 0.99993 LY75-CD302 100526664 __UNKNOWN__ __UNKNOWN__ 2 160637267 160637267 __UNKNOWN__ Intron SNP C C A rs2303552 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:160637267C>A ENST00000504764.1 - 36 5246 CD302_ENST00000480212.1_Intron|CD302_ENST00000429078.2_Intron|CD302_ENST00000259053.4_Intron|LY75_ENST00000554112.1_Intron|LY75_ENST00000553424.1_Intron|LY75-CD302_ENST00000505052.1_Intron NM_001198759.1 NP_001185688.1 LY75-CD302 readthrough NA NA NA TAGGTGCACACTGAAAATTTA 0.388 NA C||| 1096 0.21885 0.0287 0.487 5008 , , NA 17183 0.2698 NA 0.327 False NA ,,, NA NA NA 2504 0.1217 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS56140.1, CCDS56141.1 2q24.2 2011-04-19 ENSG00000248672 ENSG00000248672 100526664 38828 other readthrough NA Standard NM_001198759 NA Approved uc002ubb.4 OTTHUMG00000161661 ENST00000504764.1:c.5218+125G>T chr2.hg19:g.160637267C>A NA hg19 CCDS56141.1 0.02 4.093625 ACAxTGA COVERED NOVEL LY75-CD302-001 PUTATIVE basic|appris_principal|readthrough_transcript|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000365654.1 0 4.192894 KEEP 0 0 0 14 433 CC 0.995343 0.995338 0 - 13 60 456 0 0 34.342815 99 60 3675 126 ENST00000504764.1 0.116071 0.999995 LY75-CD302 100526664 __UNKNOWN__ __UNKNOWN__ 2 160659996 160659996 __UNKNOWN__ Intron SNP G G A rs13307 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:160659996G>A ENST00000504764.1 - 34 5018 LY75_ENST00000263636.4_3'UTR|LY75_ENST00000554112.1_Intron|LY75_ENST00000553424.1_Intron|LY75-CD302_ENST00000505052.1_Intron NM_001198759.1 NP_001185688.1 LY75-CD302 readthrough NA NA NA ACAGATCACAGGACAAGAGAA 0.313 NA G||| 1328 0.265176 0.0318 0.5447 5008 , , NA 16887 0.2927 NA 0.4254 False NA ,,, NA NA NA 2504 0.1892 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS56140.1, CCDS56141.1 2q24.2 2011-04-19 ENSG00000248672 ENSG00000248672 100526664 38828 other readthrough NA Standard NM_001198759 NA Approved uc002ubb.4 OTTHUMG00000161661 ENST00000504764.1:c.4990+3487C>T chr2.hg19:g.160659996G>A NA hg19 CCDS56141.1 0.02 1.815957 ACAxGAC COVERED NOVEL LY75-CD302-001 PUTATIVE basic|appris_principal|readthrough_transcript|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000365654.1 1 6.320174 KEEP 0 0 0 21 713 GG 0.999869 0.999637 0 - 9 60 329 0 0 24.582487 79 60 2909 124 ENST00000504764.1 0.102273 0.999768 LY75-CD302 100526664 __UNKNOWN__ __UNKNOWN__ 2 160663435 160663435 __UNKNOWN__ Intron SNP T T C rs12463589 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:160663435T>C ENST00000504764.1 - 34 5018 LY75_ENST00000263636.4_Intron|LY75_ENST00000554112.1_Intron|LY75_ENST00000553424.1_Intron|LY75-CD302_ENST00000505052.1_Intron NM_001198759.1 NP_001185688.1 LY75-CD302 readthrough NA NA NA GTACATTTATTTCCTGACTGT 0.338 NA T||| 1329 0.265375 0.0318 0.5447 5008 , , NA 19636 0.2937 NA 0.4254 False NA ,,, NA NA NA 2504 0.1892 NA NA NA NA 0 T ,, 383,4023 189.5+/-215.6 15,353,1835 60 58 59 ,, 4.5 0 2 dbSNP_120 59 3525,5075 508.0+/-377.0 734,2057,1509 no intron,intron,intron LY75,LY75-CD302 NM_001198759.1,NM_001198760.1,NM_002349.3 ,, 749,2410,3344 CC,CT,TT 40.9884,8.6927,30.0477 ,, ,, 160663435 3908,9098 2203 4300 6503 SO:0001627 intron_variant CCDS56140.1, CCDS56141.1 2q24.2 2011-04-19 ENSG00000248672 ENSG00000248672 100526664 38828 other readthrough NA Standard NM_001198759 NA Approved uc002ubb.4 OTTHUMG00000161661 ENST00000504764.1:c.4990+48A>G chr2.hg19:g.160663435T>C NA hg19 CCDS56141.1 0.02 4.255898 TATxTCC COVERED NOVEL LY75-CD302-001 PUTATIVE basic|appris_principal|readthrough_transcript|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000365654.1 1 9.627779 KEEP 0 0 0 32 972 TT 0.999997 0.999997 0 - 5 60 189 0 0 11.93671 134 60 4793 201 ENST00000504764.1 0.035971 1 LY75-CD302 100526664 __UNKNOWN__ __UNKNOWN__ 2 160673526 160673526 __UNKNOWN__ Missense_Mutation SNP A A G rs2059696 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:160673526A>G ENST00000504764.1 - 30 4198 c.4171T>C c.(4171-4173)Tat>Cat p.Y1391H LY75_ENST00000263636.4_Missense_Mutation_p.Y1391H|LY75_ENST00000554112.1_Missense_Mutation_p.Y1391H|LY75_ENST00000553424.1_Missense_Mutation_p.Y1391H|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.Y1391H NM_001198759.1 NP_001185688.1 LY75-CD302 readthrough NA NA p.Y1391H(1) NA GTAGTATTATATTCTTCTTTG 0.284 NA A||| 1030 0.205671 0.0287 0.4827 5008 , , NA 18449 0.2212 NA 0.327 False NA ,,, NA NA NA 2504 0.1074 NA NA NA NA 1 Substitution - Missense(1) stomach(1) A HIS/TYR,HIS/TYR,HIS/TYR 307,4099 165.4+/-196.9 9,289,1905 75 75 75 4171,4171,4171 2 1 2 dbSNP_94 75 2652,5948 423.7+/-354.4 411,1830,2059 yes missense,missense,missense LY75,LY75-CD302 NM_001198759.1,NM_001198760.1,NM_002349.3 83,83,83 420,2119,3964 GG,GA,AA 30.8372,6.9678,22.751 benign,benign,benign 1391/1874,1391/1818,1391/1723 160673526 2959,10047 2203 4300 6503 SO:0001583 missense CCDS56140.1, CCDS56141.1 2q24.2 2011-04-19 ENSG00000248672 ENSG00000248672 100526664 38828 other readthrough NA Standard NM_001198759 NA Approved uc002ubb.4 OTTHUMG00000161661 ENST00000504764.1:c.4171T>C chr2.hg19:g.160673526A>G ENSP00000423463:p.Tyr1391His NA hg19 CCDS56141.1 0.02 4.562947 TATxTTC COVERED 543 0.24862637362637363 16 0.032520325203252036 156 0.430939226519337 122 0.21328671328671328 249 0.32849604221635886 A 9.660 1.143804 0.21205 0.069678 0.308372 ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672 ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052 T;T;T;T;T 0.17054 2.3;2.3;2.3;2.3;2.3 5.65 1.99 0.26369 . 0.269362 0.19663 N 0.108922 T 0.00012 0.0000 L 0.27053 0.805 0.40886 P 0.015965000000000007 B;B;B 0.14438 0.003;0.003;0.01 B;B;B 0.15484 0.013;0.004;0.01 T 0.48833 -0.9000 9 0.15952 T 0.53 -6.7853 5.9111 0.19029 0.5812:0.1296:0.2892:0.0 rs2059696;rs17230537;rs2059696 1391;1391;1391 O60449-3;O60449;O60449-2 .;LY75_HUMAN;. H 1391 ENSP00000451511:Y1391H;ENSP00000451446:Y1391H;ENSP00000263636:Y1391H;ENSP00000423463:Y1391H;ENSP00000421035:Y1391H ENSP00000423463:Y1391H Y - 1 0 LY75;LY75-CD302 160381772 0.991000 0.36638 0.995000 0.50966 0.994000 0.84299 0.893000 0.28336 0.166000 0.19597 0.528000 0.53228 TAT NOVEL LY75-CD302-001 PUTATIVE basic|appris_principal|readthrough_transcript|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000365654.1 0 3.609451 KEEP 0 0 0 12 349 AA 0.993634 0.993615 0 - 11 60 405 0 0 30.503736 93 60 3387 117 ENST00000504764.1 0.105769 0.999981 LY75-CD302 100526664 __UNKNOWN__ __UNKNOWN__ 2 160691978 160691978 __UNKNOWN__ Intron SNP G G A rs2303548 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:160691978G>A ENST00000504764.1 - 26 3701 LY75_ENST00000263636.4_Intron|LY75_ENST00000554112.1_Intron|LY75_ENST00000553424.1_Intron|LY75-CD302_ENST00000505052.1_Intron NM_001198759.1 NP_001185688.1 LY75-CD302 readthrough NA NA NA TAAAAGATCTGAAATTCACAT 0.328 NA G||| 693 0.138379 0.0076 0.1383 5008 , , NA 15634 0.2718 NA 0.165 False NA ,,, NA NA NA 2504 0.1503 NA NA NA NA 0 G ,, 154,4252 102.5+/-141.1 3,148,2052 41 40 40 ,, -2.1 0 2 dbSNP_100 40 1448,7152 269.7+/-288.6 109,1230,2961 no intron,intron,intron LY75,LY75-CD302 NM_001198759.1,NM_001198760.1,NM_002349.3 ,, 112,1378,5013 AA,AG,GG 16.8372,3.4952,12.3174 ,, ,, 160691978 1602,11404 2203 4300 6503 SO:0001627 intron_variant CCDS56140.1, CCDS56141.1 2q24.2 2011-04-19 ENSG00000248672 ENSG00000248672 100526664 38828 other readthrough NA Standard NM_001198759 NA Approved uc002ubb.4 OTTHUMG00000161661 ENST00000504764.1:c.3673+12C>T chr2.hg19:g.160691978G>A NA hg19 CCDS56141.1 0.02 4.255913 TCTxAAA COVERED NOVEL LY75-CD302-001 PUTATIVE basic|appris_principal|readthrough_transcript|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000365654.1 0 3.310677 KEEP 0 0 0 11 376 GG 0.993072 0.993072 0 - 12 60 443 0 0 32.28311 127 60 4774 152 ENST00000504764.1 0.086331 1 LY75-CD302 100526664 __UNKNOWN__ __UNKNOWN__ 2 160707075 160707075 __UNKNOWN__ Intron SNP C C T rs41264207 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:160707075C>T ENST00000504764.1 - 22 2911 LY75_ENST00000263636.4_Intron|LY75_ENST00000554112.1_Intron|LY75_ENST00000553424.1_Intron|LY75-CD302_ENST00000505052.1_Intron NM_001198759.1 NP_001185688.1 LY75-CD302 readthrough NA NA NA TGCTAATTTTCGGTCTGTGAG 0.353 NA C||| 494 0.0986422 0.0045 0.1023 5008 , , NA 13744 0.2619 NA 0.0785 False NA ,,, NA NA NA 2504 0.0757 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS56140.1, CCDS56141.1 2q24.2 2011-04-19 ENSG00000248672 ENSG00000248672 100526664 38828 other readthrough NA Standard NM_001198759 NA Approved uc002ubb.4 OTTHUMG00000161661 ENST00000504764.1:c.2884-97G>A chr2.hg19:g.160707075C>T NA hg19 CCDS56141.1 0.02 4.114629 TTTxGGT COVERED NOVEL LY75-CD302-001 PUTATIVE basic|appris_principal|readthrough_transcript|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000365654.1 1 3.611036 KEEP 0 0 0 12 384 CC 0.993634 0.993632 0 - 10 60 360 0 0 25.827482 110 60 3578 135 ENST00000504764.1 0.083333 0.999999 LY75-CD302 100526664 __UNKNOWN__ __UNKNOWN__ 2 160708645 160708645 __UNKNOWN__ Intron SNP C C G rs2162500 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:160708645C>G ENST00000504764.1 - 21 2911 LY75_ENST00000263636.4_Intron|LY75_ENST00000554112.1_Intron|LY75_ENST00000553424.1_Intron|LY75-CD302_ENST00000505052.1_Intron NM_001198759.1 NP_001185688.1 LY75-CD302 readthrough NA NA NA GGTTGCCATTCTGCCATAGGC 0.418 NA C||| 1452 0.289936 0.1626 0.3285 5008 , , NA 21049 0.2907 NA 0.5249 False NA ,,, NA NA NA 2504 0.1922 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS56140.1, CCDS56141.1 2q24.2 2011-04-19 ENSG00000248672 ENSG00000248672 100526664 38828 other readthrough NA Standard NM_001198759 NA Approved uc002ubb.4 OTTHUMG00000161661 ENST00000504764.1:c.2883+66G>C chr2.hg19:g.160708645C>G NA hg19 CCDS56141.1 0.02 2.026514 ATTxTGC COVERED NOVEL LY75-CD302-001 PUTATIVE basic|appris_principal|readthrough_transcript|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000365654.1 0 2.708612 KEEP 0 0 0 9 310 CC 0.99254 0.985519 0 - 4 60 145 0 0 9.912478 60 60 2223 82 ENST00000504764.1 0.0625 0.992926 LY75-CD302 100526664 __UNKNOWN__ __UNKNOWN__ 2 160710922 160710922 __UNKNOWN__ Silent SNP T T C rs2729705 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:160710922T>C ENST00000504764.1 - 18 2571 c.2544A>G c.(2542-2544)gcA>gcG p.A848A LY75_ENST00000263636.4_Silent_p.A848A|LY75_ENST00000554112.1_Silent_p.A848A|LY75_ENST00000553424.1_Silent_p.A848A|LY75-CD302_ENST00000505052.1_Silent_p.A848A NM_001198759.1 NP_001185688.1 LY75-CD302 readthrough NA NA NA ATGTTATAGTTGCAAGAAAGC 0.299 NA C||| 2616 0.522364 0.7413 0.438 5008 , , NA 15220 0.4583 NA 0.5736 False NA ,,, NA NA NA 2504 0.2996 NA NA NA NA 0 C ,, 3148,1258 428.5+/-341.9 1113,922,168 82 80 81 2544,2544,2544 -0.9 0.8 2 dbSNP_100 81 4858,3742 532.9+/-382.3 1360,2138,802 no coding-synonymous,coding-synonymous,coding-synonymous LY75,LY75-CD302 NM_001198759.1,NM_001198760.1,NM_002349.3 ,, 2473,3060,970 CC,CT,TT 43.5116,28.552,38.4438 ,, 848/1874,848/1818,848/1723 160710922 8006,5000 2203 4300 6503 SO:0001819 synonymous_variant CCDS56140.1, CCDS56141.1 2q24.2 2011-04-19 ENSG00000248672 ENSG00000248672 100526664 38828 other readthrough NA Standard NM_001198759 NA Approved uc002ubb.4 OTTHUMG00000161661 ENST00000504764.1:c.2544A>G chr2.hg19:g.160710922T>C NA hg19 CCDS56141.1 0.02 4.539987 AGTxGCA COVERED NOVEL LY75-CD302-001 PUTATIVE basic|appris_principal|readthrough_transcript|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000365654.1 2 2.676145 KEEP 0 2 69 33 999 TT 0.999999 0.999997 0 - 5 60 192 0 0 12.598606 113 60 4107 195 ENST00000504764.1 0.042373 0.999998 LY75-CD302 100526664 __UNKNOWN__ __UNKNOWN__ 2 160729005 160729005 __UNKNOWN__ Missense_Mutation SNP C C T rs1397706 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:160729005C>T ENST00000504764.1 - 13 2101 c.2074G>A c.(2074-2076)Gat>Aat p.D692N LY75_ENST00000263636.4_Missense_Mutation_p.D692N|LY75_ENST00000554112.1_Missense_Mutation_p.D692N|LY75_ENST00000553424.1_Missense_Mutation_p.D692N|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.D692N NM_001198759.1 NP_001185688.1 LY75-CD302 readthrough NA NA NA TTTATTTCATCCACATGGCTG 0.388 NA C||| 491 0.0980431 0.0045 0.0994 5008 , , NA 18572 0.2629 NA 0.0775 False NA ,,, NA NA NA 2504 0.0746 NA NA NA NA 0 C ASN/ASP,ASN/ASP,ASN/ASP 78,4328 68.7+/-106.4 2,74,2127 123 134 130 2074,2074,2074 -0.8 0 2 dbSNP_88 130 671,7929 168.7+/-220.2 24,623,3653 yes missense,missense,missense LY75,LY75-CD302 NM_001198759.1,NM_001198760.1,NM_002349.3 23,23,23 26,697,5780 TT,TC,CC 7.8023,1.7703,5.7589 benign,benign,benign 692/1874,692/1818,692/1723 160729005 749,12257 2203 4300 6503 SO:0001583 missense CCDS56140.1, CCDS56141.1 2q24.2 2011-04-19 ENSG00000248672 ENSG00000248672 100526664 38828 other readthrough NA Standard NM_001198759 NA Approved uc002ubb.4 OTTHUMG00000161661 ENST00000504764.1:c.2074G>A chr2.hg19:g.160729005C>T ENSP00000423463:p.Asp692Asn NA hg19 CCDS56141.1 0.02 20.425964 CATxCAC COVERED 228 0.1043956043956044 4 0.008130081300813009 26 0.0718232044198895 141 0.2465034965034965 57 0.07519788918205805 C 8.103 0.777188 0.16120 0.017703 0.078023 ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672 ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052 T;T;T;T;T 0.07908 3.15;3.15;3.15;3.15;3.15 5.17 -0.818 0.10833 C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3); 2.022460 0.03243 U 0.180745 T 0.00012 0.0000 N 0.17838 0.53 0.58432 P 1.0000000000287557E-6 B;B;B;B 0.12013 0.005;0.003;0.004;0.002 B;B;B;B 0.18561 0.022;0.009;0.015;0.006 T 0.47086 -0.9144 9 0.59425 D 0.04 -2.6917 10.2321 0.43260 0.0:0.5366:0.0:0.4634 rs1397706;rs60798164;rs1397706 310;692;692;692 Q59H44;O60449-3;O60449;O60449-2 .;.;LY75_HUMAN;. N 692 ENSP00000451511:D692N;ENSP00000451446:D692N;ENSP00000263636:D692N;ENSP00000423463:D692N;ENSP00000421035:D692N ENSP00000423463:D692N D - 1 0 LY75;LY75-CD302 160437251 0.014000 0.17966 0.009000 0.14445 0.169000 0.22640 0.148000 0.16224 -0.374000 0.07967 0.484000 0.47621 GAT NOVEL LY75-CD302-001 PUTATIVE basic|appris_principal|readthrough_transcript|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000365654.1 3 31.499898 KEEP 0 1 20 112 3859 CC 1 1 0 - 37 60 1351 0 0 97.163537 415 60 15414 713 ENST00000504764.1 0.081858 1 PLA2R1 22925 __UNKNOWN__ __UNKNOWN__ 2 160802644 160802644 __UNKNOWN__ Intron SNP A A C rs1511223 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:160802644A>C ENST00000283243.7 - 27 4174 PLA2R1_ENST00000392771.1_3'UTR NM_001195641.1|NM_007366.4 NP_001182570.1|NP_031392.3 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1, 180kDa NA NA cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399) cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872) PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 gtctgaaaataatttaaaact 0.383 NA A||| 1031 0.205871 0.0371 0.2421 5008 , , NA 16994 0.2738 NA 0.4235 False NA ,,, NA NA NA 2504 0.1145 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U17033 CCDS33309.1, CCDS42767.1 2q23-q24 2011-08-30 2002-08-29 ENSG00000153246 ENSG00000153246 22925 C-type lectin domain containing 9042 protein-coding gene gene with protein product 604939 phospholipase A2 receptor 1, 180kD NA 7721806, 7925459 Standard NM_007366 NA Approved PLA2G1R, PLA2IR, PLA2-R, CLEC13C uc002ube.2 Q13018 OTTHUMG00000154087 ENST00000283243.7:c.3967+667T>G chr2.hg19:g.160802644A>C NA B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7 hg19 CCDS33309.1 0.02 4.466658 AATxATT COVERED NOVEL PLA2R1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000333820.1 0 13.237841 KEEP 0 0 0 44 1305 AA 1 0.999997 0 - 12 60 446 0 0 33.62153 103 60 3604 180 ENST00000283243.7 0.104348 0.999997 PLA2R1 22925 __UNKNOWN__ __UNKNOWN__ 2 160885418 160885418 __UNKNOWN__ Missense_Mutation SNP G G C rs35771982 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:160885418G>C ENST00000283243.7 - 5 1104 c.898C>G c.(898-900)Cac>Gac p.H300D PLA2R1_ENST00000392771.1_Missense_Mutation_p.H300D NM_001195641.1|NM_007366.4 NP_001182570.1|NP_031392.3 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1, 180kDa 300 C-type lectin 1. {ECO:0000255|PROSITE- ProRule:PRU00040}. NA H -> D (in dbSNP:rs35771982). {ECO:0000269|PubMed:7721806}. cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399) cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872) PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 CAGCCAGCGTGTTCATCCAGC 0.478 NA G||| 1257 0.250998 0.0371 0.268 5008 , , NA 19325 0.3532 NA 0.4702 False NA ,,, NA NA NA 2504 0.1973 NA NA NA NA 0 G ASP/HIS,ASP/HIS,ASP/HIS 442,3964 213.1+/-232.8 23,396,1784 123 96 105 898,898,898 -0.9 0 2 dbSNP_126 105 4200,4400 569.8+/-389.2 1057,2086,1157 yes missense,missense,missense PLA2R1 NM_001007267.2,NM_001195641.1,NM_007366.4 81,81,81 1080,2482,2941 CC,CG,GG 48.8372,10.0318,35.6912 benign,benign,benign 300/1325,300/1462,300/1464 160885418 4642,8364 2203 4300 6503 SO:0001583 missense U17033 CCDS33309.1, CCDS42767.1 2q23-q24 2011-08-30 2002-08-29 ENSG00000153246 ENSG00000153246 22925 C-type lectin domain containing 9042 protein-coding gene gene with protein product 604939 phospholipase A2 receptor 1, 180kD NA 7721806, 7925459 Standard NM_007366 NA Approved PLA2G1R, PLA2IR, PLA2-R, CLEC13C uc002ube.2 Q13018 OTTHUMG00000154087 ENST00000283243.7:c.898C>G chr2.hg19:g.160885418G>C ENSP00000283243:p.His300Asp NA B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7 hg19 CCDS33309.1 0.02 12.594944 CGTxTTC COVERED 697 0.3191391941391941 23 0.046747967479674794 109 0.3011049723756906 201 0.3513986013986014 364 0.48021108179419525 G 0.014 -1.576005 0.00887 0.100318 0.488372 ENSG00000153246 ENST00000283243;ENST00000392771 T;T 0.15017 2.46;2.46 5.83 -0.954 0.10359 C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3); 0.824431 0.11259 N 0.582814 T 0.00012 0.0000 N 0.02247 -0.625 0.80722 P 0.0 B;B;B 0.02656 0.0;0.0;0.0 B;B;B 0.01281 0.0;0.0;0.0 T 0.44605 -0.9317 9 0.11794 T 0.64 . 5.4776 0.16704 0.0:0.3217:0.2728:0.4055 rs35771982;rs60910735;rs62175486 300;300;300 B7ZML4;Q13018-2;Q13018 .;.;PLA2R_HUMAN D 300 ENSP00000283243:H300D;ENSP00000376524:H300D ENSP00000283243:H300D H - 1 0 PLA2R1 160593664 0.000000 0.05858 0.000000 0.03702 0.029000 0.11900 -0.203000 0.09438 -0.102000 0.12197 -1.036000 0.02392 CAC NOVEL PLA2R1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000333820.1 2 23.084867 KEEP 0 3 110 115 4089 GG 1 1 0 - 15 60 586 0 0 40.67948 252 60 9399 493 ENST00000283243.7 0.05618 1 PLA2R1 22925 __UNKNOWN__ __UNKNOWN__ 2 160885442 160885442 __UNKNOWN__ Missense_Mutation SNP T T C rs3749117 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:160885442T>C ENST00000283243.7 - 5 1080 c.874A>G c.(874-876)Atg>Gtg p.M292V PLA2R1_ENST00000392771.1_Missense_Mutation_p.M292V NM_001195641.1|NM_007366.4 NP_001182570.1|NP_031392.3 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1, 180kDa 292 C-type lectin 1. {ECO:0000255|PROSITE- ProRule:PRU00040}. NA M -> V (in dbSNP:rs3749117). {ECO:0000269|PubMed:7721806}. cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399) cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872) PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 TTGAGGCCCATCCACACCTCC 0.458 NA T||| 1287 0.256989 0.0552 0.2695 5008 , , NA 19362 0.3542 NA 0.4742 False NA ,,, NA NA NA 2504 0.1973 NA NA NA NA 0 T VAL/MET,VAL/MET,VAL/MET 534,3872 243.1+/-252.9 31,472,1700 109 86 94 874,874,874 4.6 0.8 2 dbSNP_107 94 4212,4388 570.2+/-389.3 1062,2088,1150 yes missense,missense,missense PLA2R1 NM_001007267.2,NM_001195641.1,NM_007366.4 21,21,21 1093,2560,2850 CC,CT,TT 48.9767,12.1198,36.4909 benign,benign,benign 292/1325,292/1462,292/1464 160885442 4746,8260 2203 4300 6503 SO:0001583 missense U17033 CCDS33309.1, CCDS42767.1 2q23-q24 2011-08-30 2002-08-29 ENSG00000153246 ENSG00000153246 22925 C-type lectin domain containing 9042 protein-coding gene gene with protein product 604939 phospholipase A2 receptor 1, 180kD NA 7721806, 7925459 Standard NM_007366 NA Approved PLA2G1R, PLA2IR, PLA2-R, CLEC13C uc002ube.2 Q13018 OTTHUMG00000154087 ENST00000283243.7:c.874A>G chr2.hg19:g.160885442T>C ENSP00000283243:p.Met292Val NA B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7 hg19 CCDS33309.1 0.02 14.28892 CCAxCCA COVERED 710 0.3250915750915751 31 0.06300813008130081 110 0.30386740331491713 201 0.3513986013986014 368 0.48548812664907653 T 8.814 0.935883 0.18206 0.121198 0.489767 ENSG00000153246 ENST00000283243;ENST00000392771 T;T 0.15256 2.44;2.44 5.83 4.64 0.57946 C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3); 0.833616 0.11223 N 0.586525 T 0.00012 0.0000 L 0.37697 1.125 0.43364 P 0.004554999999999976 B;B;B 0.09022 0.001;0.001;0.002 B;B;B 0.14578 0.005;0.002;0.011 T 0.43909 -0.9362 9 0.59425 D 0.04 . 12.1668 0.54135 0.0:0.0:0.1431:0.8569 rs3749117;rs52812136;rs58475274;rs3749117 292;292;292 B7ZML4;Q13018-2;Q13018 .;.;PLA2R_HUMAN V 292 ENSP00000283243:M292V;ENSP00000376524:M292V ENSP00000283243:M292V M - 1 0 PLA2R1 160593688 1.000000 0.71417 0.830000 0.32933 0.119000 0.20118 3.267000 0.51577 0.991000 0.38814 0.528000 0.53228 ATG NOVEL PLA2R1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000333820.1 1 29.595635 KEEP 0 3 108 136 4268 TT 1 1 0 - 16 60 590 0 0 39.238779 296 60 10725 588 ENST00000283243.7 0.051282 1 PLA2R1 22925 __UNKNOWN__ __UNKNOWN__ 2 160901517 160901517 __UNKNOWN__ Silent SNP A A G rs4665143 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:160901517A>G ENST00000283243.7 - 2 467 c.261T>C c.(259-261)agT>agC p.S87S PLA2R1_ENST00000392771.1_Silent_p.S87S NM_001195641.1|NM_007366.4 NP_001182570.1|NP_031392.3 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1, 180kDa 87 Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}. NA cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399) cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872) PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 CCAGGCAACCACTGCCTCCTA 0.502 NA G||| 2290 0.457268 0.1278 0.6614 5008 , , NA 17561 0.5992 NA 0.6292 False NA ,,, NA NA NA 2504 0.4346 NA NA NA NA 0 G ,, 965,3441 734.6+/-410.6 102,761,1340 70 64 66 261,261,261 -6.6 0.5 2 dbSNP_111 66 5455,3145 478.0+/-369.8 1742,1971,587 no coding-synonymous,coding-synonymous,coding-synonymous PLA2R1 NM_001007267.2,NM_001195641.1,NM_007366.4 ,, 1844,2732,1927 GG,GA,AA 36.5698,21.902,49.3618 ,, 87/1325,87/1462,87/1464 160901517 6420,6586 2203 4300 6503 SO:0001819 synonymous_variant U17033 CCDS33309.1, CCDS42767.1 2q23-q24 2011-08-30 2002-08-29 ENSG00000153246 ENSG00000153246 22925 C-type lectin domain containing 9042 protein-coding gene gene with protein product 604939 phospholipase A2 receptor 1, 180kD NA 7721806, 7925459 Standard NM_007366 NA Approved PLA2G1R, PLA2IR, PLA2-R, CLEC13C uc002ube.2 Q13018 OTTHUMG00000154087 ENST00000283243.7:c.261T>C chr2.hg19:g.160901517A>G NA B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7 hg19 CCDS33309.1 0.02 13.434876 ACCxCTG COVERED NOVEL PLA2R1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000333820.1 1 13.172199 KEEP 0 1 20 51 1579 AA 1 1 0 - 20 60 684 0 0 45.847357 287 60 10328 406 ENST00000283243.7 0.065147 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 160938162 160938162 __UNKNOWN__ IGR SNP G G T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:160938162G>T NA NA PLA2R1 (19041 upstream) : ITGB6 (18014 downstream) NA NA NA actctttctggctacttcctg 0.488 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.160938162G>T NA hg19 0.02 -0.359701 CTGxCTA COVERED NOVEL 0 1 3.310687 KEEP 0 0 0 11 388 GG 0.993072 0.882717 0 7 60 261 0 0 21.302332 34 60 1267 70 0.170732 0.888875 ITGB6 3694 __UNKNOWN__ __UNKNOWN__ 2 160983060 160983060 __UNKNOWN__ Silent SNP G G C rs2305819 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:160983060G>C ENST00000428609.2 - 10 1821 c.1587C>G c.(1585-1587)ggC>ggG p.G529G ITGB6_ENST00000409967.2_Intron|ITGB6_ENST00000409872.1_Silent_p.G571G|ITGB6_ENST00000283249.2_Silent_p.G571G P18564 ITB6_HUMAN integrin, beta 6 571 Cysteine-rich tandem repeats. NA cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032) external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) virus receptor activity (GO:0001618) breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 23 TGCAGTACTCGCCAGTCCAGC 0.557 NA G||| 750 0.14976 0.0076 0.1455 5008 , , NA 16349 0.3185 NA 0.173 False NA ,,, NA NA NA 2504 0.1472 NA NA NA NA 0 G 156,4250 105.2+/-143.6 1,154,2048 81 76 77 1713 -3.4 1 2 dbSNP_100 77 1403,7197 270.9+/-289.3 110,1183,3007 no coding-synonymous ITGB6 NM_000888.3 111,1337,5055 CC,CG,GG 16.314,3.5406,11.9868 571/789 160983060 1559,11447 2203 4300 6503 SO:0001819 synonymous_variant CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1 2q24.2 2010-03-23 ENSG00000115221 ENSG00000115221 3694 Integrins 6161 protein-coding gene gene with protein product 147558 NA 1729173, 8120056 Standard NM_000888 NM_001282353 NA Approved uc002ubh.2 P18564 OTTHUMG00000132026 ENST00000428609.2:c.1587C>G chr2.hg19:g.160983060G>C NA B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6 hg19 0.02 2.155957 CTCxCCA COVERED NOVEL ITGB6-006 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000334016.1 0 3.288441 KEEP 0 0 0 11 331 GG 0.993072 0.993012 0 - 9 60 312 0 0 22.590122 86 60 2881 121 ENST00000428609.2 0.094737 0.99994 ITGB6 3694 __UNKNOWN__ __UNKNOWN__ 2 161029218 161029218 __UNKNOWN__ Silent SNP G G A rs2305818 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:161029218G>A ENST00000428609.2 - 5 891 c.657C>T c.(655-657)gaC>gaT p.D219D ITGB6_ENST00000409967.2_Silent_p.D261D|ITGB6_ENST00000409872.1_Silent_p.D261D|ITGB6_ENST00000485635.1_5'UTR|ITGB6_ENST00000283249.2_Silent_p.D261D P18564 ITB6_HUMAN integrin, beta 6 261 VWFA. NA cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032) external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) virus receptor activity (GO:0001618) breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 23 GGTGGAGGGAGTCATTCCGCC 0.453 NA G||| 1144 0.228435 0.0325 0.2594 5008 , , NA 17071 0.3323 NA 0.4225 False NA ,,, NA NA NA 2504 0.1646 NA NA NA NA 0 G 413,3993 200.8+/-224.0 14,385,1804 127 121 123 783 -5.1 0.8 2 dbSNP_100 123 3499,5101 512.2+/-377.9 740,2019,1541 no coding-synonymous ITGB6 NM_000888.3 754,2404,3345 AA,AG,GG 40.686,9.3736,30.0784 261/789 161029218 3912,9094 2203 4300 6503 SO:0001819 synonymous_variant CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1 2q24.2 2010-03-23 ENSG00000115221 ENSG00000115221 3694 Integrins 6161 protein-coding gene gene with protein product 147558 NA 1729173, 8120056 Standard NM_000888 NM_001282353 NA Approved uc002ubh.2 P18564 OTTHUMG00000132026 ENST00000428609.2:c.657C>T chr2.hg19:g.161029218G>A NA B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6 hg19 0.02 13.597063 GGAxTCA COVERED NOVEL ITGB6-006 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000334016.1 4 15.756921 KEEP 0 3 75 79 2797 GG 1 1 0 - 28 60 1002 0 0 71.800949 306 60 11370 516 ENST00000428609.2 0.083832 1 RBMS1 5937 __UNKNOWN__ __UNKNOWN__ 2 161174595 161174595 __UNKNOWN__ Intron SNP T T C rs79264682 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:161174595T>C ENST00000348849.3 - 3 741 RBMS1_ENST00000409289.2_Intron|RBMS1_ENST00000392753.3_Intron|RBMS1_ENST00000409972.1_Intron|RBMS1_ENST00000409075.1_Intron|RBMS1_ENST00000474820.1_Intron NM_002897.4|NM_016836.3 NP_002888.1|NP_058520.1 P29558 RBMS1_HUMAN RNA binding motif, single stranded interacting protein 1 NA NA DNA replication (GO:0006260)|RNA processing (GO:0006396) nucleus (GO:0005634) double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697) PLA2R1/RBMS1(2) NA AAAACGAAGGTGGTTTTGAAA 0.348 NA T||| 40 0.00798722 0.0 0.0 5008 , , NA 15827 0.0377 NA 0.0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D28482 CCDS2213.1 2q24.2 2013-02-12 ENSG00000153250 ENSG00000153250 5937 RNA binding motif (RRM) containing 9907 protein-coding gene gene with protein product suppressor of cdc 2 (cdc13) with RNA binding motif 2, c-myc gene single strand binding protein 2 602310 chromosome 2 open reading frame 12 C2orf12 NA 8041632, 8134115, 7838710 Standard NM_016836 NM_016836 NA Approved SCR2, MSSP-1, MSSP-2, MSSP-3, YC1, HCC-4, DKFZp564H0764 uc002ubo.3 P29558 OTTHUMG00000132031 ENST00000348849.3:c.310+84A>G chr2.hg19:g.161174595T>C NA Q14869|Q15433|Q53P46|Q53QX8|Q53RG6|Q8WV20 hg19 CCDS2213.1 0.02 2.194523 AGGxGGT COVERED NOVEL RBMS1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255043.4 0 17.749491 KEEP 0 0 0 59 1813 TT 1 0.99911 0 - 7 60 255 0 0 18.573897 72 60 2556 182 ENST00000348849.3 0.088608 0.99911 RBMS1 5937 __UNKNOWN__ __UNKNOWN__ 2 161174693 161174693 __UNKNOWN__ Silent SNP C C T rs1430 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:161174693C>T ENST00000348849.3 - 3 727 c.297G>A c.(295-297)acG>acA p.T99T RBMS1_ENST00000409289.2_Silent_p.T66T|RBMS1_ENST00000392753.3_Silent_p.T99T|RBMS1_ENST00000409972.1_Silent_p.T66T|RBMS1_ENST00000409075.1_Silent_p.T66T|RBMS1_ENST00000474820.1_5'UTR NM_002897.4|NM_016836.3 NP_002888.1|NP_058520.1 P29558 RBMS1_HUMAN RNA binding motif, single stranded interacting protein 1 99 RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}. NA DNA replication (GO:0006260)|RNA processing (GO:0006396) nucleus (GO:0005634) double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697) PLA2R1/RBMS1(2) NA TGCATTTGTTCGTTGTCTTAT 0.284 NA c||| 1308 0.261182 0.1195 0.2104 5008 , , NA 14319 0.5308 NA 0.3032 False NA ,,, NA NA NA 2504 0.1677 NA NA NA NA 0 T , 663,3743 277.2+/-273.6 48,567,1588 118 112 114 297,297 -12.1 0.1 2 dbSNP_36 114 2494,6104 408.8+/-349.6 380,1734,2185 no coding-synonymous,coding-synonymous RBMS1 NM_002897.4,NM_016836.3 , 428,2301,3773 TT,TC,CC 29.0067,15.0477,24.2771 , 99/404,99/407 161174693 3157,9847 2203 4299 6502 SO:0001819 synonymous_variant D28482 CCDS2213.1 2q24.2 2013-02-12 ENSG00000153250 ENSG00000153250 5937 RNA binding motif (RRM) containing 9907 protein-coding gene gene with protein product suppressor of cdc 2 (cdc13) with RNA binding motif 2, c-myc gene single strand binding protein 2 602310 chromosome 2 open reading frame 12 C2orf12 NA 8041632, 8134115, 7838710 Standard NM_016836 NM_016836 NA Approved SCR2, MSSP-1, MSSP-2, MSSP-3, YC1, HCC-4, DKFZp564H0764 uc002ubo.3 P29558 OTTHUMG00000132031 ENST00000348849.3:c.297G>A chr2.hg19:g.161174693C>T NA Q14869|Q15433|Q53P46|Q53QX8|Q53RG6|Q8WV20 hg19 CCDS2213.1 0.02 -0.342053 GTTxGTT COVERED NOVEL RBMS1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255043.4 1 6.31856 KEEP 0 0 0 21 660 CC 0.999869 0.865632 0 - 3 60 113 0 0 8.139306 36 60 1115 64 ENST00000348849.3 0.076923 0.865745 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 162137757 162137757 __UNKNOWN__ IGR SNP C C G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:162137757C>G NA NA AC009299.2 (26578 upstream) : PSMD14 (26791 downstream) NA NA NA CTTCGCAGAGCGGAGCAGCGG 0.607 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.162137757C>G NA hg19 0.02 -0.394735 GAGxGGA COVERED NOVEL 0 1 3.310961 KEEP 1 0 0 11 402 CC 0.993072 0.920221 0 4 60 156 0 0 11.908558 35 60 1252 76 0.102564 0.92664 GCG 2641 __UNKNOWN__ __UNKNOWN__ 2 163005584 163005584 __UNKNOWN__ Intron SNP A A G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:163005584A>G ENST00000418842.2 - 2 347 GCG_ENST00000375497.3_Intron NM_002054.4 NP_002045.1 P01275 GLUC_HUMAN glucagon NA NA adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|protein kinase A signaling (GO:0010737)|regulation of insulin secretion (GO:0050796)|response to starvation (GO:0042594)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281) endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|secretory granule lumen (GO:0034774) glucagon receptor binding (GO:0031769)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|receptor binding (GO:0005102) breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9) 14 GTTCGAGACTACGGATTTAAT 0.368 NA NA NA NA NA NA NA NA NA NA NA 0 114 110 111 NA NA 2 NA 163005584 1861 4101 5962 SO:0001627 intron_variant CCDS46439.1 2q36-q37 2013-02-26 ENSG00000115263 ENSG00000115263 2641 Endogenous ligands 4191 protein-coding gene gene with protein product glicentin-related polypeptide, glucagon-like peptide 1, glucagon-like peptide 2, preproglucagon 138030 NA 2753890, 3725587 Standard NM_002054 NM_002054 NA Approved GLP1, GLP2, GRPP uc002ucc.4 P01275 OTTHUMG00000153892 ENST00000418842.2:c.92+12T>C chr2.hg19:g.163005584A>G NA A6NN65|Q53TP6 hg19 CCDS46439.1 0.02 15.76096 ACTxCGG COVERED NOVEL GCG-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000332860.1 1 10.832904 KEEP 0 0 0 36 1133 AA 0.999999 0.999999 0 - 12 60 462 0 0 28.926947 359 60 12726 459 ENST00000418842.2 0.032345 1 IFIH1 64135 __UNKNOWN__ __UNKNOWN__ 2 163133156 163133156 __UNKNOWN__ Intron SNP A A G rs74269124 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:163133156A>G ENST00000263642.2 - 11 2700 NM_022168.3 NP_071451.2 Q9BYX4 IFIH1_HUMAN interferon induced with helicase C domain 1 NA NA cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|protein sumoylation (GO:0016925)|regulation of apoptotic process (GO:0042981)|regulation of type III interferon production (GO:0034344)|response to virus (GO:0009615)|viral process (GO:0016032) cytosol (GO:0005829)|nucleus (GO:0005634) ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|ribonucleoprotein complex binding (GO:0043021)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270) NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 39 agaagaaaagagaaagaaaag 0.438 NA A||| 220 0.0439297 0.0 0.0 5008 , , NA 19376 0.2054 NA 0.0 False NA ,,, NA NA NA 2504 0.0133 NA NA NA NA 0 A 7,4399 11.4+/-27.6 0,7,2196 86 87 86 0.4 0 2 dbSNP_130 86 1,8599 1.2+/-3.3 0,1,4299 no intron IFIH1 NM_022168.2 0,8,6495 GG,GA,AA 0.0116,0.1589,0.0615 163133156 8,12998 2203 4300 6503 SO:0001627 intron_variant AF095844 CCDS2217.1 2q24.2 2010-02-09 ENSG00000115267 ENSG00000115267 64135 18873 protein-coding gene gene with protein product helicard 606951 NA Standard NM_022168 NM_022168 NA Approved MDA-5, Hlcd, MDA5, IDDM19 uc002uce.4 Q9BYX4 OTTHUMG00000132055 ENST00000263642.2:c.2304+40T>C chr2.hg19:g.163133156A>G NA Q2NKL6|Q6DC96|Q86X56|Q96MX8|Q9H3G6 hg19 CCDS2217.1 0.02 9.538413 AAGxGAA COVERED NOVEL IFIH1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255078.2 4 12.038152 KEEP 0 0 0 40 1324 AA 1 1 0 - 8 60 284 0 0 16.674239 255 60 9005 335 ENST00000263642.2 0.030418 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 164152136 164152136 __UNKNOWN__ IGR SNP G G A rs540984264 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:164152136G>A NA NA RNU6-627P (6530 upstream) : FIGN (297769 downstream) NA NA NA gaagggatgagagatctctct 0.468 NA G||| 4 0.000798722 0.0 0.0 5008 , , NA 15627 0.004 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.164152136G>A NA hg19 0.02 2.531139 TGAxAGA COVERED NOVEL 0 0 2.708763 KEEP 0 0 0 9 323 GG 0.99254 0.960208 0 4 60 141 0 0 9.886826 48 60 1824 70 0.076923 0.967425 COBLL1 22837 __UNKNOWN__ __UNKNOWN__ 2 165657118 165657118 __UNKNOWN__ Intron SNP A A T rs75458208 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:165657118A>T ENST00000342193.4 - 1 257 COBLL1_ENST00000375458.2_Intron|COBLL1_ENST00000409184.3_Intron|COBLL1_ENST00000392717.2_Intron|COBLL1_ENST00000194871.6_Intron|COBLL1_ENST00000491126.2_Intron NM_014900.3 NP_055715.3 Q53SF7 COBL1_HUMAN cordon-bleu WH2 repeat protein-like 1 NA NA extracellular vesicular exosome (GO:0070062) central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 47 aaaatactgtacttgaatgtt 0.318 NA A||| 902 0.180112 0.2496 0.196 5008 , , NA 18620 0.1022 NA 0.1829 False NA ,,, NA NA NA 2504 0.1524 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB023194 CCDS2223.2, CCDS63045.1 2q24.3 2012-12-07 2012-12-07 ENSG00000082438 ENSG00000082438 22837 23571 protein-coding gene gene with protein product 610318 COBL-like 1 NA Standard NM_014900 NM_001278458 NA Approved KIAA0977 uc002ucp.3 Q53SF7 OTTHUMG00000074019 ENST00000342193.4:c.41+40547T>A chr2.hg19:g.165657118A>T NA A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3 hg19 CCDS2223.2 0.02 4.102565 TGTxCTT COVERED NOVEL COBLL1-004 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000157055.2 2 12.911718 KEEP 0 1 8 46 1392 AA 1 0.999994 0 - 5 60 178 0 0 11.356325 105 60 3740 198 ENST00000342193.4 0.045455 0.999994 COBLL1 22837 __UNKNOWN__ __UNKNOWN__ 2 165698547 165698547 __UNKNOWN__ Intron SNP G G A rs2279982 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:165698547G>A ENST00000491126.2 - 1 134 COBLL1_ENST00000194871.6_Missense_Mutation_p.P3L|AC019181.2_ENST00000414885.1_RNA Q53SF7 COBL1_HUMAN cordon-bleu WH2 repeat protein-like 1 NA NA extracellular vesicular exosome (GO:0070062) central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 47 GGACCAGCTCGGCGGCATTGG 0.687 NA G||| 937 0.187101 0.2489 0.1988 5008 , , NA 12557 0.1359 NA 0.1809 False NA ,,, NA NA NA 2504 0.1544 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB023194 CCDS2223.2, CCDS63045.1 2q24.3 2012-12-07 2012-12-07 ENSG00000082438 ENSG00000082438 22837 23571 protein-coding gene gene with protein product 610318 COBL-like 1 NA Standard NM_014900 NM_001278458 NA Approved KIAA0977 uc002ucp.3 Q53SF7 OTTHUMG00000074019 ENST00000491126.2:c.470+233C>T chr2.hg19:g.165698547G>A NA A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3 hg19 0.02 5.829259 CTCxGCG COVERED 402 0.18406593406593408 124 0.25203252032520324 72 0.19889502762430938 73 0.12762237762237763 133 0.17546174142480211 G 16.64 3.179197 0.57800 . . ENSG00000082438 ENST00000194871 . . . 4.65 2.82 0.32997 . . . . . T 0.00012 0.0000 . . . 0.48511 P 3.3600000000000296E-4 B 0.21688 0.059 B 0.14023 0.01 T 0.26815 -1.0092 5 . . . . 5.9874 0.19442 0.1036:0.1939:0.7025:0.0 rs2279982 3 B7Z2P5 . L 3 . . P - 2 0 COBLL1 165406793 0.940000 0.31905 0.010000 0.14722 0.685000 0.39939 1.709000 0.37909 0.551000 0.29008 0.563000 0.77884 CCG NOVEL COBLL1-017 KNOWN basic processed_transcript NA protein_coding OTTHUMT00000333122.2 2 40.291636 KEEP 0 0 0 134 4493 GG 1 1 0 - 16 60 532 0 0 36.739596 182 60 6167 423 ENST00000491126.2 0.080808 1 SLC38A11 151258 __UNKNOWN__ __UNKNOWN__ 2 165753118 165753118 __UNKNOWN__ 3'UTR SNP A A G rs3817135 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:165753118A>G ENST00000303735.4 - 0 3314 NM_173512.2 NP_775783.1 Q08AI6 S38AB_HUMAN solute carrier family 38, member 11 NA NA amino acid transport (GO:0006865)|sodium ion transport (GO:0006814) integral component of membrane (GO:0016021) endometrium(2)|large_intestine(4)|lung(8)|ovary(1) 15 AACATGTACCAATCTAAAAAC 0.284 NA A||| 1782 0.355831 0.1354 0.2997 5008 , , NA 17120 0.4613 NA 0.3598 False NA ,,, NA NA NA 2504 0.5808 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS2224.1, CCDS56142.1 2q24.3 2013-05-22 ENSG00000169507 ENSG00000169507 151258 Solute carriers 26836 protein-coding gene gene with protein product NA Standard NM_173512 NM_173512 NA Approved FLJ39822, AVT2 uc002ucw.2 Q08AI6 OTTHUMG00000132144 ENST00000303735.4:c.*1829T>C chr2.hg19:g.165753118A>G NA B4DF99|Q8N887 hg19 CCDS2224.1 0.02 4.807933 ACCxATC COVERED NOVEL SLC38A11-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000255190.1 1 13.673317 KEEP 0 1 33 57 1734 AA 1 1 0 - 6 60 220 0 0 14.253593 127 60 4645 229 ENST00000303735.4 0.045113 1 SLC38A11 151258 __UNKNOWN__ __UNKNOWN__ 2 165753763 165753763 __UNKNOWN__ 3'UTR SNP G G C rs12692750 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:165753763G>C ENST00000303735.4 - 0 2669 NM_173512.2 NP_775783.1 Q08AI6 S38AB_HUMAN solute carrier family 38, member 11 NA NA amino acid transport (GO:0006865)|sodium ion transport (GO:0006814) integral component of membrane (GO:0016021) endometrium(2)|large_intestine(4)|lung(8)|ovary(1) 15 agaccacctcgagctctcagt 0.512 NA C||| 3535 0.705871 0.5643 0.8516 5008 , , NA 17588 0.6716 NA 0.8111 False NA ,,, NA NA NA 2504 0.7209 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS2224.1, CCDS56142.1 2q24.3 2013-05-22 ENSG00000169507 ENSG00000169507 151258 Solute carriers 26836 protein-coding gene gene with protein product NA Standard NM_173512 NM_173512 NA Approved FLJ39822, AVT2 uc002ucw.2 Q08AI6 OTTHUMG00000132144 ENST00000303735.4:c.*1184C>G chr2.hg19:g.165753763G>C NA B4DF99|Q8N887 hg19 CCDS2224.1 0.02 4.643242 CTCxAGC COVERED NOVEL SLC38A11-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000255190.1 0 17.690938 KEEP 0 1 35 71 2382 GG 1 1 0 - 11 60 392 0 0 28.126658 118 60 4339 257 ENST00000303735.4 0.085271 1 SLC38A11 151258 __UNKNOWN__ __UNKNOWN__ 2 165754611 165754611 __UNKNOWN__ 3'UTR SNP A A T rs72884433 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:165754611A>T ENST00000303735.4 - 0 1821 NM_173512.2 NP_775783.1 Q08AI6 S38AB_HUMAN solute carrier family 38, member 11 NA NA amino acid transport (GO:0006865)|sodium ion transport (GO:0006814) integral component of membrane (GO:0016021) endometrium(2)|large_intestine(4)|lung(8)|ovary(1) 15 CAAAATTCCAACCCACAATCA 0.423 NA A||| 1539 0.307308 0.09 0.2233 5008 , , NA 9730 0.4554 NA 0.3012 False NA ,,, NA NA NA 2504 0.5143 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS2224.1, CCDS56142.1 2q24.3 2013-05-22 ENSG00000169507 ENSG00000169507 151258 Solute carriers 26836 protein-coding gene gene with protein product NA Standard NM_173512 NM_173512 NA Approved FLJ39822, AVT2 uc002ucw.2 Q08AI6 OTTHUMG00000132144 ENST00000303735.4:c.*336T>A chr2.hg19:g.165754611A>T NA B4DF99|Q8N887 hg19 CCDS2224.1 0.02 1.807213 CCAxCCC COVERED NOVEL SLC38A11-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000255190.1 2 13.025105 KEEP 0 1 7 46 1387 AA 1 0.999804 0 - 5 70 175 0 0 11.553822 83 60 2908 172 ENST00000303735.4 0.056818 0.999804 SCN3A 6328 __UNKNOWN__ __UNKNOWN__ 2 165996107 165996107 __UNKNOWN__ Silent SNP T T A rs1946892 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:165996107T>A ENST00000283254.7 - 14 2498 c.2031A>T c.(2029-2031)acA>acT p.T677T SCN3A_ENST00000409101.3_Silent_p.T628T|SCN3A_ENST00000360093.3_Silent_p.T677T NM_001081676.1|NM_006922.3 NP_001075145.1|NP_008853.3 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 677 NA membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814) cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518) voltage-gated sodium channel activity (GO:0005248) NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909) CTTCCGTTTCTGTGGTGGTGC 0.453 NA A||| 3178 0.634585 0.7277 0.5778 5008 , , NA 16901 0.8165 NA 0.4245 False NA ,,, NA NA NA 2504 0.5777 NA NA NA NA 0 A ,, 2919,1487 476.4+/-357.6 956,1007,240 126 110 115 1884,1884,2031 1.6 1 2 dbSNP_92 115 3622,4978 625.1+/-397.7 767,2088,1445 no coding-synonymous,coding-synonymous,coding-synonymous SCN3A NM_001081676.1,NM_001081677.1,NM_006922.3 ,, 1723,3095,1685 AA,AT,TT 42.1163,33.7494,49.7078 ,, 628/1952,628/1952,677/2001 165996107 6541,6465 2203 4300 6503 SO:0001819 synonymous_variant AF035685 CCDS33312.1, CCDS46440.1 2q24 2012-02-26 2007-01-23 ENSG00000153253 ENSG00000153253 6328 Sodium channels, Voltage-gated ion channels / Sodium channels 10590 protein-coding gene gene with protein product 182391 sodium channel, voltage-gated, type III, alpha polypeptide NA 9589372, 16382098 Standard NM_006922 NM_001081676 NA Approved Nav1.3 uc002ucx.3 Q9NY46 OTTHUMG00000044171 ENST00000283254.7:c.2031A>T chr2.hg19:g.165996107T>A NA Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4 hg19 CCDS33312.1 0.02 10.583196 TTCxGTG COVERED NOVEL SCN3A-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000102655.2 2 6.623987 KEEP 0 3 97 56 1785 TT 1 1 0 - 12 60 448 0 0 29.018289 268 60 10051 403 ENST00000283254.7 0.042857 1 SCN2A 6326 __UNKNOWN__ __UNKNOWN__ 2 166170127 166170127 __UNKNOWN__ Intron SNP T T C rs2121371 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:166170127T>C ENST00000375437.2 + 9 1324 SCN2A_ENST00000357398.3_Intron|SCN2A_ENST00000283256.6_Intron|SCN2A_ENST00000375427.2_Intron NM_001040142.1 NP_001035232.1 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit NA NA intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814) axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518) voltage-gated sodium channel activity (GO:0005248) NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909) AACCTAATTATAGCCAGTGTC 0.408 NA C||| 3868 0.772364 0.792 0.7939 5008 , , NA 16634 0.7431 NA 0.83 False NA ,,, NA NA NA 2504 0.7014 NA NA NA NA 0 C ,, 3545,861 338.1+/-305.1 1421,703,79 123 118 120 ,, 2 0.1 2 dbSNP_96 120 7233,1367 266.3+/-286.6 3029,1175,96 no intron,intron,intron SCN2A NM_001040142.1,NM_001040143.1,NM_021007.2 ,, 4450,1878,175 CC,CT,TT 15.8953,19.5415,17.1306 ,, ,, 166170127 10778,2228 2203 4300 6503 SO:0001627 intron_variant AB208888 CCDS33313.1, CCDS33314.1 2q24.3 2012-02-26 2007-01-23 2007-01-23 ENSG00000136531 ENSG00000136531 6326 Sodium channels, Voltage-gated ion channels / Sodium channels 10588 protein-coding gene gene with protein product 182390 sodium channel, voltage-gated, type II, alpha 2 polypeptide, sodium channel, voltage-gated, type II, alpha 1 polypeptide SCN2A1, SCN2A2 NA 1317301, 16382098 Standard NM_021007 XM_005246753 NA Approved Nav1.2, HBSCII, HBSCI uc002ude.3 Q99250 OTTHUMG00000044172 ENST00000375437.2:c.1035-3T>C chr2.hg19:g.166170127T>C NA A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0 hg19 CCDS33314.1 0.02 6.541018 TTAxAGC COVERED NOVEL SCN2A-202 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000102659.2 1 2.239541 KEEP 0 1 36 20 577 TT 0.999869 0.999869 0 + 13 60 468 0 0 32.578066 172 60 6345 229 ENST00000375437.2 0.07027 1 SCN2A 6326 __UNKNOWN__ __UNKNOWN__ 2 166248047 166248047 __UNKNOWN__ 3'UTR SNP G G A rs1007722 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:166248047G>A ENST00000375437.2 + 0 8021 SCN2A_ENST00000357398.3_3'UTR|SCN2A_ENST00000283256.6_3'UTR NM_001040142.1 NP_001035232.1 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit NA NA intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814) axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518) voltage-gated sodium channel activity (GO:0005248) NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909) AGGATGCAGTGTAGGTTTCTG 0.338 NA G||| 1920 0.383387 0.2572 0.438 5008 , , NA 16913 0.5238 NA 0.4254 False NA ,,, NA NA NA 2504 0.3272 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB208888 CCDS33313.1, CCDS33314.1 2q24.3 2012-02-26 2007-01-23 2007-01-23 ENSG00000136531 ENSG00000136531 6326 Sodium channels, Voltage-gated ion channels / Sodium channels 10588 protein-coding gene gene with protein product 182390 sodium channel, voltage-gated, type II, alpha 2 polypeptide, sodium channel, voltage-gated, type II, alpha 1 polypeptide SCN2A1, SCN2A2 NA 1317301, 16382098 Standard NM_021007 XM_005246753 NA Approved Nav1.2, HBSCII, HBSCI uc002ude.3 Q99250 OTTHUMG00000044172 ENST00000375437.2:c.*1713G>A chr2.hg19:g.166248047G>A NA A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0 hg19 CCDS33314.1 0.02 3.822222 AGTxTAG COVERED NOVEL SCN2A-202 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000102659.2 0 4.514807 KEEP 0 0 0 15 537 GG 0.99649 0.99649 0 + 9 60 327 0 0 22.407811 134 60 4989 185 ENST00000375437.2 0.062937 1 SCN1A 6323 __UNKNOWN__ __UNKNOWN__ 2 166896178 166896178 __UNKNOWN__ Intron SNP C C T rs490317 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:166896178C>T ENST00000409050.1 - 14 2331 SCN1A_ENST00000303395.4_Intron|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000375405.3_Intron|SCN1A_ENST00000423058.2_Intron P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit NA NA adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814) axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018) voltage-gated sodium channel activity (GO:0005248) NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909) GCTCTTAGAACATAATGCTTA 0.274 NA C||| 781 0.15595 0.0651 0.1988 5008 , , NA 17049 0.0933 NA 0.2763 False NA ,,, NA NA NA 2504 0.1892 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB093548 CCDS33316.1, CCDS54413.1, CCDS54414.1 2q24.3 2014-09-17 2007-01-23 ENSG00000144285 ENSG00000144285 6323 Sodium channels, Voltage-gated ion channels / Sodium channels 10585 protein-coding gene gene with protein product 182389 febrile convulsions 3 SCN1, FEB3 NA 8062593, 16382098, 11823106 Standard NM_006920 NM_006920 NA Approved Nav1.1, GEFSP2, HBSCI, NAC1, SMEI uc021vsb.1 P35498 OTTHUMG00000044173 ENST00000409050.1:c.2332-72G>A chr2.hg19:g.166896178C>T NA E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008 hg19 CCDS54414.1 0.02 -0.350924 GAAxATA COVERED NOVEL SCN1A-003 NOVEL non_canonical_U12|basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000333750.1 0 2.407825 KEEP 0 0 0 8 286 CC 0.99257 0.871187 0 - 22 60 788 0 0 77.340523 18 60 684 49 ENST00000409050.1 0.55 0.877708 SCN9A 6335 __UNKNOWN__ __UNKNOWN__ 2 167129256 167129256 __UNKNOWN__ Missense_Mutation SNP C C A rs4369876 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:167129256C>A ENST00000409672.1 - 17 3317 c.2971G>T c.(2971-2973)Gtg>Ttg p.V991L SCN9A_ENST00000375387.4_Missense_Mutation_p.V1003L|SCN9A_ENST00000303354.6_Missense_Mutation_p.V1003L|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409435.1_Missense_Mutation_p.V1002L NM_002977.3 NP_002968 Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 1002 NA behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814) plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518) sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248) NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909) GTTTGTTTCACATAATTTATT 0.353 NA C||| 166 0.033147 0.003 0.1268 5008 , , NA 16701 0.0605 NA 0.0 False NA ,,, NA NA NA 2504 0.0133 NA NA NA NA 0 C LEU/VAL 8,3616 0,8,1804 58 53 54 2971 -0.9 1 2 dbSNP_111 54 34,8106 0,34,4036 yes missense SCN9A NM_002977.3 32 0,42,5840 AA,AC,CC 0.4177,0.2208,0.357 benign 991/1978 167129256 42,11722 1812 4070 5882 SO:0001583 missense X82835 CCDS46441.1 2q24 2014-09-17 2007-01-23 ENSG00000169432 ENSG00000169432 6335 Sodium channels, Voltage-gated ion channels / Sodium channels 10597 protein-coding gene gene with protein product 603415 sodium channel, voltage-gated, type IX, alpha polypeptide NA 7720699, 10198179, 16382098 Standard NM_002977 NM_002977 NA Approved Nav1.7, PN1, NE-NA, NENA, ETHA uc010fpl.3 Q15858 OTTHUMG00000154044 ENST00000409672.1:c.2971G>T chr2.hg19:g.167129256C>A ENSP00000386306:p.Val991Leu NA A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4 hg19 CCDS46441.1 0.02 8.775409 TCAxATA COVERED 81 0.03708791208791209 3 0.006097560975609756 42 0.11602209944751381 36 0.06293706293706294 0 0.0 C 7.043 0.562988 0.13498 0.002208 0.004177 ENSG00000169432 ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435 D;D;D;D 0.85773 -2.03;-2.03;-2.03;-2.03 5.42 -0.949 0.10376 . 0.947749 0.08817 N 0.889328 T 0.04543 0.0124 L 0.51853 1.615 0.38332 P 0.05618999999999996 B 0.11235 0.004 B 0.16289 0.015 T 0.50118 -0.8865 9 0.51188 T 0.08 . 6.604 0.22716 0.1114:0.5602:0.0:0.3284 rs4369876;rs52836992;rs4369876 991 E7EUN6 . L 991;1003;1003;1002 ENSP00000386306:V991L;ENSP00000364536:V1003L;ENSP00000304748:V1003L;ENSP00000386330:V1002L ENSP00000304748:V1003L V - 1 0 SCN9A 166837502 0.000000 0.05858 0.982000 0.44146 0.155000 0.21991 -0.866000 0.04245 0.081000 0.16988 -0.145000 0.13849 GTG NOVEL SCN9A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000333636.1 1 9.931953 KEEP 0 0 0 33 1147 CC 0.999998 0.999998 0 - 20 60 716 0 0 50.955998 228 60 8670 318 ENST00000409672.1 0.080645 1 SCN9A 6335 __UNKNOWN__ __UNKNOWN__ 2 167133540 167133540 __UNKNOWN__ Missense_Mutation SNP T T G rs12478318 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:167133540T>G ENST00000409672.1 - 16 3140 c.2794A>C c.(2794-2796)Atg>Ctg p.M932L SCN9A_ENST00000375387.4_Missense_Mutation_p.M944L|SCN9A_ENST00000303354.6_Missense_Mutation_p.M944L|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409435.1_Missense_Mutation_p.M943L NM_002977.3 NP_002968 Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 943 NA M -> L (in dbSNP:rs12478318). behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814) plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518) sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248) NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909) ATAAGGCACATAGCTTGACCA 0.443 NA T||| 167 0.0333466 0.003 0.1282 5008 , , NA 14741 0.0605 NA 0.0 False NA ,,, NA NA NA 2504 0.0133 NA NA NA NA 0 T LEU/MET 9,4397 15.5+/-35.6 0,9,2194 244 228 233 2794 5.7 1 2 dbSNP_120 233 35,8565 22.2+/-67.0 0,35,4265 yes missense SCN9A NM_002977.3 15 0,44,6459 GG,GT,TT 0.407,0.2043,0.3383 probably-damaging 932/1978 167133540 44,12962 2203 4300 6503 SO:0001583 missense X82835 CCDS46441.1 2q24 2014-09-17 2007-01-23 ENSG00000169432 ENSG00000169432 6335 Sodium channels, Voltage-gated ion channels / Sodium channels 10597 protein-coding gene gene with protein product 603415 sodium channel, voltage-gated, type IX, alpha polypeptide NA 7720699, 10198179, 16382098 Standard NM_002977 NM_002977 NA Approved Nav1.7, PN1, NE-NA, NENA, ETHA uc010fpl.3 Q15858 OTTHUMG00000154044 ENST00000409672.1:c.2794A>C chr2.hg19:g.167133540T>G ENSP00000386306:p.Met932Leu NA A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4 hg19 CCDS46441.1 0.02 4.299859 ACAxAGC COVERED 81 0.03708791208791209 3 0.006097560975609756 42 0.11602209944751381 36 0.06293706293706294 0 0.0 T 12.68 2.011641 0.35511 0.002043 0.00407 ENSG00000169432 ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435 D;D;D;D 0.96774 -4.12;-4.12;-4.12;-4.12 5.65 5.65 0.86999 . 0.000000 0.85682 D 0.000000 T 0.11452 0.0279 N 0.01417 -0.88 0.21604 P 0.999623912 B 0.20261 0.043 B 0.27887 0.084 T 0.69194 -0.5209 9 0.15952 T 0.53 . 16.175 0.81844 0.0:0.0:0.0:1.0 rs12478318;rs12478318 932 E7EUN6 . L 932;944;944;943 ENSP00000386306:M932L;ENSP00000364536:M944L;ENSP00000304748:M944L;ENSP00000386330:M943L ENSP00000304748:M944L M - 1 0 SCN9A 166841786 1.000000 0.71417 1.000000 0.80357 0.955000 0.61496 6.213000 0.72194 2.274000 0.75844 0.528000 0.53228 ATG NOVEL SCN9A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000333636.1 0 6.31906 KEEP 0 0 0 21 661 TT 0.999869 0.999869 0 - 7 60 263 0 0 17.709945 127 60 4657 200 ENST00000409672.1 0.052239 1 SCN9A 6335 __UNKNOWN__ __UNKNOWN__ 2 167134578 167134578 __UNKNOWN__ Intron SNP T T C rs10930215 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:167134578T>C ENST00000409672.1 - 15 2831 SCN9A_ENST00000375387.4_Intron|SCN9A_ENST00000303354.6_Intron|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409435.1_Intron NM_002977.3 NP_002968 Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit NA NA behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814) plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518) sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248) NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909) CCAAAAGTTTTTAAAAATAAT 0.289 NA T||| 586 0.117013 0.1876 0.1859 5008 , , NA 13494 0.0774 NA 0.0805 False NA ,,, NA NA NA 2504 0.0511 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X82835 CCDS46441.1 2q24 2014-09-17 2007-01-23 ENSG00000169432 ENSG00000169432 6335 Sodium channels, Voltage-gated ion channels / Sodium channels 10597 protein-coding gene gene with protein product 603415 sodium channel, voltage-gated, type IX, alpha polypeptide NA 7720699, 10198179, 16382098 Standard NM_002977 NM_002977 NA Approved Nav1.7, PN1, NE-NA, NENA, ETHA uc010fpl.3 Q15858 OTTHUMG00000154044 ENST00000409672.1:c.2484+71A>G chr2.hg19:g.167134578T>C NA A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4 hg19 CCDS46441.1 0.02 4.904399 TTTxTAA COVERED NOVEL SCN9A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000333636.1 1 5.113498 KEEP 0 0 0 17 486 TT 0.999366 0.999366 0 - 7 60 264 0 0 18.103585 115 60 4114 150 ENST00000409672.1 0.057377 0.999999 SCN9A 6335 __UNKNOWN__ __UNKNOWN__ 2 167134775 167134775 __UNKNOWN__ Missense_Mutation SNP T T C rs149707354 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:167134775T>C ENST00000409672.1 - 15 2705 c.2359A>G c.(2359-2361)Atg>Gtg p.M787V SCN9A_ENST00000375387.4_Missense_Mutation_p.M799V|SCN9A_ENST00000303354.6_Missense_Mutation_p.M799V|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409435.1_Missense_Mutation_p.M798V NM_002977.3 NP_002968 Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 798 NA behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814) plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518) sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248) NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909) TATGGATCCATGGCAATCAGT 0.338 NA T||| 23 0.00459265 0.0 0.0014 5008 , , NA 16009 0.0208 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 T VAL/MET 0,3732 0,0,1866 67 63 64 2359 4.1 1 2 dbSNP_134 64 1,8299 0,1,4149 yes missense SCN9A NM_002977.3 21 0,1,6015 CC,CT,TT 0.012,0.0,0.0083 possibly-damaging 787/1978 167134775 1,12031 1866 4150 6016 SO:0001583 missense X82835 CCDS46441.1 2q24 2014-09-17 2007-01-23 ENSG00000169432 ENSG00000169432 6335 Sodium channels, Voltage-gated ion channels / Sodium channels 10597 protein-coding gene gene with protein product 603415 sodium channel, voltage-gated, type IX, alpha polypeptide NA 7720699, 10198179, 16382098 Standard NM_002977 NM_002977 NA Approved Nav1.7, PN1, NE-NA, NENA, ETHA uc010fpl.3 Q15858 OTTHUMG00000154044 ENST00000409672.1:c.2359A>G chr2.hg19:g.167134775T>C ENSP00000386306:p.Met787Val NA A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4 hg19 CCDS46441.1 0.02 3.279774 CCAxGGC COVERED 14 0.00641025641025641 0 0.0 0 0.0 14 0.024475524475524476 0 0.0 T 14.48 2.549028 0.45383 0.0 1.2E-4 ENSG00000169432 ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435 D;D;D;D 0.97303 -4.33;-4.33;-4.33;-4.33 5.23 4.05 0.47172 . 0.073970 0.64402 N 0.000016 D 0.92519 0.7624 M 0.75615 2.305 0.33942 D 0.643388 B 0.27732 0.187 B 0.28553 0.091 D 0.93699 0.7014 10 0.87932 D 0 . 11.3253 0.49446 0.0:0.0:0.2905:0.7095 . 787 E7EUN6 . V 787;799;799;798 ENSP00000386306:M787V;ENSP00000364536:M799V;ENSP00000304748:M799V;ENSP00000386330:M798V ENSP00000304748:M799V M - 1 0 SCN9A 166843021 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 2.011000 0.40922 0.897000 0.36392 0.533000 0.62120 ATG NOVEL SCN9A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000333636.1 1 3.608707 KEEP 0 0 0 12 366 TT 0.993634 0.993634 0 - 7 60 227 0 0 13.808763 141 60 5238 172 ENST00000409672.1 0.047297 1 SCN9A 6335 __UNKNOWN__ __UNKNOWN__ 2 167137119 167137119 __UNKNOWN__ Intron SNP G G A rs6432893 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:167137119G>A ENST00000409672.1 - 14 2418 SCN9A_ENST00000375387.4_Intron|SCN9A_ENST00000303354.6_Intron|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409435.1_Intron NM_002977.3 NP_002968 Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit NA NA behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814) plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518) sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248) NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909) GGAGAAAAAAGCAGAGAACAT 0.383 NA A||| 2733 0.545727 0.8026 0.5418 5008 , , NA 18618 0.3819 NA 0.4861 False NA ,,, NA NA NA 2504 0.4315 NA NA NA NA 0 A 2731,901 1045,641,130 25 25 25 0.4 0 2 dbSNP_116 25 3867,4249 946,1975,1137 no intron SCN9A NM_002977.3 1991,2616,1267 AA,AG,GG 47.6466,24.8073,43.8372 167137119 6598,5150 1816 4058 5874 SO:0001627 intron_variant X82835 CCDS46441.1 2q24 2014-09-17 2007-01-23 ENSG00000169432 ENSG00000169432 6335 Sodium channels, Voltage-gated ion channels / Sodium channels 10597 protein-coding gene gene with protein product 603415 sodium channel, voltage-gated, type IX, alpha polypeptide NA 7720699, 10198179, 16382098 Standard NM_002977 NM_002977 NA Approved Nav1.7, PN1, NE-NA, NENA, ETHA uc010fpl.3 Q15858 OTTHUMG00000154044 ENST00000409672.1:c.2072-14C>T chr2.hg19:g.167137119G>A NA A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4 hg19 CCDS46441.1 0.02 4.068324 AAAxCAG COVERED NOVEL SCN9A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000333636.1 0 8.126223 KEEP 0 0 0 27 973 GG 0.999988 0.999988 0 - 9 60 326 0 0 22.140367 140 60 5351 226 ENST00000409672.1 0.060403 1 SCN9A 6335 __UNKNOWN__ __UNKNOWN__ 2 167140955 167140955 __UNKNOWN__ Intron SNP G G A rs7608201 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:167140955G>A ENST00000409672.1 - 12 2288 SCN9A_ENST00000375387.4_Intron|SCN9A_ENST00000303354.6_Intron|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409435.1_Intron NM_002977.3 NP_002968 Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit NA NA behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814) plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518) sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248) NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909) TATGTAAAACGTCCTTACGCT 0.522 NA G||| 580 0.115815 0.1823 0.1873 5008 , , NA 18331 0.0774 NA 0.0805 False NA ,,, NA NA NA 2504 0.0511 NA NA NA NA 0 G 638,3704 42,554,1575 25 26 26 -3.3 0.4 2 dbSNP_116 26 677,7907 31,615,3646 no intron SCN9A NM_002977.3 73,1169,5221 AA,AG,GG 7.8868,14.6937,10.1733 167140955 1315,11611 2171 4292 6463 SO:0001627 intron_variant X82835 CCDS46441.1 2q24 2014-09-17 2007-01-23 ENSG00000169432 ENSG00000169432 6335 Sodium channels, Voltage-gated ion channels / Sodium channels 10597 protein-coding gene gene with protein product 603415 sodium channel, voltage-gated, type IX, alpha polypeptide NA 7720699, 10198179, 16382098 Standard NM_002977 NM_002977 NA Approved Nav1.7, PN1, NE-NA, NENA, ETHA uc010fpl.3 Q15858 OTTHUMG00000154044 ENST00000409672.1:c.1941+40C>T chr2.hg19:g.167140955G>A NA A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4 hg19 CCDS46441.1 0.02 6.95751 AACxTCC COVERED NOVEL SCN9A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000333636.1 1 5.115333 KEEP 0 0 0 17 544 GG 0.999366 0.999366 0 - 13 60 485 0 0 34.338443 170 60 5565 219 ENST00000409672.1 0.071038 1 SCN9A 6335 __UNKNOWN__ __UNKNOWN__ 2 167149693 167149693 __UNKNOWN__ Intron SNP G G A rs7588632 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:167149693G>A ENST00000409672.1 - 9 1454 SCN9A_ENST00000375387.4_Intron|SCN9A_ENST00000303354.6_Intron|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409435.1_Intron NM_002977.3 NP_002968 Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit NA NA behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814) plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518) sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248) NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909) CATACACCAGGTACATATGCC 0.348 NA A||| 3714 0.741613 0.9425 0.6542 5008 , , NA 19171 0.7272 NA 0.6252 False NA ,,, NA NA NA 2504 0.6667 NA NA NA NA 0 A 3276,384 1476,324,30 17 16 16 1.4 0 2 dbSNP_116 16 4948,3228 1515,1918,655 no intron SCN9A NM_002977.3 2991,2242,685 AA,AG,GG 39.4814,10.4918,30.5171 167149693 8224,3612 1830 4088 5918 SO:0001627 intron_variant X82835 CCDS46441.1 2q24 2014-09-17 2007-01-23 ENSG00000169432 ENSG00000169432 6335 Sodium channels, Voltage-gated ion channels / Sodium channels 10597 protein-coding gene gene with protein product 603415 sodium channel, voltage-gated, type IX, alpha polypeptide NA 7720699, 10198179, 16382098 Standard NM_002977 NM_002977 NA Approved Nav1.7, PN1, NE-NA, NENA, ETHA uc010fpl.3 Q15858 OTTHUMG00000154044 ENST00000409672.1:c.1107+47C>T chr2.hg19:g.167149693G>A NA A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4 hg19 CCDS46441.1 0.02 1.690897 CAGxTAC COVERED NOVEL SCN9A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000333636.1 0 2.708952 KEEP 0 0 0 9 329 GG 0.99254 0.992403 0 - 8 60 289 0 0 20.959544 83 60 2940 106 ENST00000409672.1 0.087912 0.999862 SCN9A 6335 __UNKNOWN__ __UNKNOWN__ 2 167160735 167160735 __UNKNOWN__ Intron SNP A A G rs74449889 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:167160735A>G ENST00000409672.1 - 6 1035 SCN9A_ENST00000375387.4_Intron|SCN9A_ENST00000303354.6_Intron|SCN9A_ENST00000409435.1_Intron NM_002977.3 NP_002968 Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit NA NA behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814) plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518) sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248) NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909) GCTTCACACCAATTACTTCTT 0.383 NA A||| 250 0.0499201 0.0023 0.1585 5008 , , NA 16477 0.12 NA 0.001 False NA ,,, NA NA NA 2504 0.0153 NA NA NA NA 0 A 12,4380 19.1+/-41.9 0,12,2184 86 89 88 5.7 1 2 dbSNP_132 88 40,8560 25.7+/-73.6 0,40,4260 no intron SCN9A NM_002977.3 0,52,6444 GG,GA,AA 0.4651,0.2732,0.4002 167160735 52,12940 2196 4300 6496 SO:0001627 intron_variant X82835 CCDS46441.1 2q24 2014-09-17 2007-01-23 ENSG00000169432 ENSG00000169432 6335 Sodium channels, Voltage-gated ion channels / Sodium channels 10597 protein-coding gene gene with protein product 603415 sodium channel, voltage-gated, type IX, alpha polypeptide NA 7720699, 10198179, 16382098 Standard NM_002977 NM_002977 NA Approved Nav1.7, PN1, NE-NA, NENA, ETHA uc010fpl.3 Q15858 OTTHUMG00000154044 ENST00000409672.1:c.688+12T>C chr2.hg19:g.167160735A>G NA A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4 hg19 CCDS46441.1 0.02 11.83391 ACCxATT COVERED NOVEL SCN9A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000333636.1 1 13.840098 KEEP 0 0 0 46 1390 AA 1 1 0 - 18 60 662 1 0 45.958062 256 60 9251 379 ENST00000409672.1 0.065693 1 XIRP2 129446 __UNKNOWN__ __UNKNOWN__ 2 168099738 168099738 __UNKNOWN__ Intron SNP T T C rs10497323 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:168099738T>C ENST00000409728.1 + 9 1364 XIRP2_ENST00000409195.1_Silent_p.G612G|XIRP2_ENST00000295237.9_Silent_p.G612G|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Silent_p.G390G|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron NM_001199143.1 NP_001186072.1 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 NA NA actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281) cell junction (GO:0030054)|Z disc (GO:0030018) NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 TTGCTGGTGGTGATGTGAAAT 0.428 NA C||| 1763 0.352037 0.5719 0.255 5008 , , NA 19983 0.3284 NA 0.169 False NA ,,, NA NA NA 2504 0.3364 NA NA NA NA 0 C ,,,, 1921,2051 459,1003,524 88 92 91 ,,1170,,1836 -5.3 0.7 2 dbSNP_119 91 1298,6980 100,1098,2941 no intron,intron,coding-synonymous,intron,coding-synonymous XIRP2 NM_001079810.3,NM_001199143.1,NM_001199144.1,NM_001199145.1,NM_152381.5 ,,,, 559,2101,3465 CC,CT,TT 15.6801,48.3635,26.2776 ,,,, ,,390/3328,,612/3550 168099738 3219,9031 1986 4139 6125 SO:0001627 intron_variant AK056582 CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1 2q31.1 2013-10-25 2007-06-27 2007-06-27 ENSG00000163092 ENSG00000163092 129446 14303 protein-coding gene gene with protein product myomaxin 609778 cardiomyopathy associated 3 CMYA3 NA 17046827, 12203715, 15454575 Standard NM_152381 NM_001079810 NA Approved uc002udx.3 A4UGR9 OTTHUMG00000154027 ENST00000409728.1:c.1275+1318T>C chr2.hg19:g.168099738T>C NA A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6 hg19 CCDS56143.1 0.02 17.781234 TGGxGAT COVERED NOVEL XIRP2-006 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000333552.1 3 14.441738 KEEP 0 0 0 48 1467 TT 1 1 0 + 14 60 472 0 0 27.07452 422 60 14783 577 ENST00000409728.1 0.03211 1 XIRP2 129446 __UNKNOWN__ __UNKNOWN__ 2 168099775 168099775 __UNKNOWN__ Intron SNP C C G rs16853305 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:168099775C>G ENST00000409728.1 + 9 1364 XIRP2_ENST00000409195.1_Missense_Mutation_p.P625A|XIRP2_ENST00000295237.9_Missense_Mutation_p.P625A|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.P403A|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron NM_001199143.1 NP_001186072.1 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 NA NA actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281) cell junction (GO:0030054)|Z disc (GO:0030018) NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 TGAAACCCAACCCATCGACAC 0.458 NA C||| 1165 0.232628 0.3828 0.1628 5008 , , NA 19982 0.1855 NA 0.1262 False NA ,,, NA NA NA 2504 0.2372 NA NA NA NA 0 C ALA/PRO,ALA/PRO,,, 1273,2641 211,851,895 83 87 86 1207,1873,,, 5.9 1 2 dbSNP_123 86 932,7326 55,822,3252 yes missense,missense,intron,intron,intron XIRP2 NM_001199144.1,NM_152381.5,NM_001079810.3,NM_001199143.1,NM_001199145.1 27,27,,, 266,1673,4147 GG,GC,CC 11.286,32.5243,18.1153 probably-damaging,probably-damaging,,, 403/3328,625/3550,,, 168099775 2205,9967 1957 4129 6086 SO:0001627 intron_variant AK056582 CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1 2q31.1 2013-10-25 2007-06-27 2007-06-27 ENSG00000163092 ENSG00000163092 129446 14303 protein-coding gene gene with protein product myomaxin 609778 cardiomyopathy associated 3 CMYA3 NA 17046827, 12203715, 15454575 Standard NM_152381 NM_001079810 NA Approved uc002udx.3 A4UGR9 OTTHUMG00000154027 ENST00000409728.1:c.1275+1355C>G chr2.hg19:g.168099775C>G NA A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6 hg19 CCDS56143.1 0.02 24.571196 CAAxCCA COVERED 466 0.21336996336996336 199 0.40447154471544716 52 0.143646408839779 117 0.20454545454545456 98 0.12928759894459102 C 22.4 4.282935 0.80692 0.325243 0.11286 ENSG00000163092 ENST00000409195;ENST00000295237;ENST00000409273 T;T;T 0.55052 0.54;0.54;0.54 5.93 5.93 0.95920 . 0.106308 0.64402 D 0.000004 T 0.00012 0.0000 L 0.32530 0.975 0.09310 P 0.9999999890341 D;D;D 0.89917 1.0;0.999;0.999 D;D;D 0.72338 0.977;0.961;0.961 T 0.30001 -0.9993 9 0.72032 D 0.01 -8.7118 19.9513 0.97200 0.0:1.0:0.0:0.0 rs16853305;rs52803621;rs56537632;rs58699025;rs16853305 450;450;403 A4UGR9;A4UGR9-3;A4UGR9-2 XIRP2_HUMAN;.;. A 625;625;403 ENSP00000386840:P625A;ENSP00000295237:P625A;ENSP00000387255:P403A ENSP00000295237:P625A P + 1 0 XIRP2 167808021 0.998000 0.40836 0.997000 0.53966 0.834000 0.47266 1.729000 0.38115 2.814000 0.96858 0.655000 0.94253 CCC NOVEL XIRP2-006 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000333552.1 1 16.854797 KEEP 0 0 0 56 1975 CC 1 1 0 + 22 60 803 0 0 51.792637 470 60 17436 658 ENST00000409728.1 0.044715 1 XIRP2 129446 __UNKNOWN__ __UNKNOWN__ 2 168099796 168099796 __UNKNOWN__ Intron SNP T T C rs16853306 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:168099796T>C ENST00000409728.1 + 9 1364 XIRP2_ENST00000409195.1_Missense_Mutation_p.Y632H|XIRP2_ENST00000295237.9_Missense_Mutation_p.Y632H|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.Y410H|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron NM_001199143.1 NP_001186072.1 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 NA NA actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281) cell junction (GO:0030054)|Z disc (GO:0030018) NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 ACTTGGGGCTTATTCTTCTGA 0.453 NA C||| 1211 0.241813 0.3858 0.17 5008 , , NA 20293 0.2163 NA 0.1282 False NA ,,, NA NA NA 2504 0.2413 NA NA NA NA 0 C ,,,HIS/TYR,HIS/TYR 1269,2611 212,845,883 70 74 73 ,,,1894,1228 5 0.6 2 dbSNP_123 73 931,7327 55,821,3253 yes intron,intron,intron,missense,missense XIRP2 NM_001079810.3,NM_001199143.1,NM_001199145.1,NM_152381.5,NM_001199144.1 ,,,83,83 267,1666,4136 CC,CT,TT 11.2739,32.7062,18.1249 ,,,benign,benign ,,,632/3550,410/3328 168099796 2200,9938 1940 4129 6069 SO:0001627 intron_variant AK056582 CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1 2q31.1 2013-10-25 2007-06-27 2007-06-27 ENSG00000163092 ENSG00000163092 129446 14303 protein-coding gene gene with protein product myomaxin 609778 cardiomyopathy associated 3 CMYA3 NA 17046827, 12203715, 15454575 Standard NM_152381 NM_001079810 NA Approved uc002udx.3 A4UGR9 OTTHUMG00000154027 ENST00000409728.1:c.1275+1376T>C chr2.hg19:g.168099796T>C NA A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6 hg19 CCDS56143.1 0.02 24.158872 GCTxATT COVERED 488 0.22344322344322345 200 0.4065040650406504 53 0.1464088397790055 135 0.23601398601398602 100 0.13192612137203166 C 0.018 -1.480157 0.01027 0.327062 0.112739 ENSG00000163092 ENST00000409195;ENST00000295237;ENST00000409273 T;T;T 0.02323 4.34;4.34;4.34 5.93 5.0 0.66597 . 0.552719 0.19301 N 0.117625 T 0.00012 0.0000 N 0.01048 -1.04 0.80722 P 0.0 B;B;B 0.02656 0.0;0.0;0.0 B;B;B 0.01281 0.0;0.0;0.0 T 0.31806 -0.9930 9 0.09084 T 0.74 -1.6335 9.997 0.41905 0.0:0.6817:0.2482:0.0701 rs16853306;rs52838025;rs58003618;rs16853306 457;457;410 A4UGR9;A4UGR9-3;A4UGR9-2 XIRP2_HUMAN;.;. H 632;632;410 ENSP00000386840:Y632H;ENSP00000295237:Y632H;ENSP00000387255:Y410H ENSP00000295237:Y632H Y + 1 0 XIRP2 167808042 0.000000 0.05858 0.574000 0.28523 0.446000 0.32137 -0.707000 0.05041 1.535000 0.49220 -0.119000 0.15052 TAT NOVEL XIRP2-006 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000333552.1 2 15.042103 KEEP 0 0 0 50 1535 TT 1 1 0 + 24 60 869 1 0 55.790203 513 60 18404 702 ENST00000409728.1 0.044693 1 XIRP2 129446 __UNKNOWN__ __UNKNOWN__ 2 168101570 168101570 __UNKNOWN__ Intron SNP T T C rs75802875 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:168101570T>C ENST00000409728.1 + 9 1364 XIRP2_ENST00000409195.1_Missense_Mutation_p.I1223T|XIRP2_ENST00000295237.9_Missense_Mutation_p.I1223T|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.I1001T|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron NM_001199143.1 NP_001186072.1 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 NA NA actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281) cell junction (GO:0030054)|Z disc (GO:0030018) NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 TTGAAAAAGATCAAAACCTTA 0.313 NA T||| 52 0.0103834 0.0 0.0 5008 , , NA 18679 0.0506 NA 0.001 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 T THR/ILE,THR/ILE,,, 1,3611 0,1,1805 49 47 47 3002,3668,,, 5.8 1 2 dbSNP_131 47 0,8140 0,0,4070 yes missense,missense,intron,intron,intron XIRP2 NM_001199144.1,NM_152381.5,NM_001079810.3,NM_001199143.1,NM_001199145.1 89,89,,, 0,1,5875 CC,CT,TT 0.0,0.0277,0.0085 probably-damaging,probably-damaging,,, 1001/3328,1223/3550,,, 168101570 1,11751 1806 4070 5876 SO:0001627 intron_variant AK056582 CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1 2q31.1 2013-10-25 2007-06-27 2007-06-27 ENSG00000163092 ENSG00000163092 129446 14303 protein-coding gene gene with protein product myomaxin 609778 cardiomyopathy associated 3 CMYA3 NA 17046827, 12203715, 15454575 Standard NM_152381 NM_001079810 NA Approved uc002udx.3 A4UGR9 OTTHUMG00000154027 ENST00000409728.1:c.1275+3150T>C chr2.hg19:g.168101570T>C NA A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6 hg19 CCDS56143.1 0.02 6.276105 AGAxCAA COVERED 31 0.014194139194139194 0 0.0 0 0.0 30 0.05244755244755245 1 0.0013192612137203166 T 15.35 2.808233 0.50421 2.77E-4 0.0 ENSG00000163092 ENST00000409195;ENST00000295237;ENST00000409273 T;T;T 0.02787 4.16;4.16;4.16 5.76 5.76 0.90799 . 0.177510 0.48286 D 0.000184 T 0.01976 0.0062 M 0.69823 2.125 0.50467 D 0.999879 D;D;D 0.76494 0.999;0.977;0.977 D;P;P 0.80764 0.994;0.787;0.787 T 0.01149 -1.1436 10 0.39692 T 0.17 -2.3572 15.0621 0.71964 0.0:0.0:0.0:1.0 . 1048;1048;1001 A4UGR9;A4UGR9-3;A4UGR9-2 XIRP2_HUMAN;.;. T 1223;1223;1001 ENSP00000386840:I1223T;ENSP00000295237:I1223T;ENSP00000387255:I1001T ENSP00000295237:I1223T I + 2 0 XIRP2 167809816 1.000000 0.71417 1.000000 0.80357 0.916000 0.54674 3.967000 0.56802 2.206000 0.71126 0.533000 0.62120 ATC NOVEL XIRP2-006 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000333552.1 2 6.316784 KEEP 0 0 0 21 624 TT 0.999879 0.999879 0 + 11 60 397 0 0 26.947509 170 60 6129 214 ENST00000409728.1 0.060773 1 XIRP2 129446 __UNKNOWN__ __UNKNOWN__ 2 168103418 168103418 __UNKNOWN__ Intron SNP G G A rs77219745 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:168103418G>A ENST00000409728.1 + 9 1364 XIRP2_ENST00000409195.1_Missense_Mutation_p.G1839D|XIRP2_ENST00000295237.9_Missense_Mutation_p.G1839D|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.G1617D|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron NM_001199143.1 NP_001186072.1 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 NA NA actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281) cell junction (GO:0030054)|Z disc (GO:0030018) NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 ATTATAAAAGGTGATTTGACA 0.393 NA G||| 52 0.0103834 0.0 0.0 5008 , , NA 20399 0.0506 NA 0.001 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 G ASP/GLY,ASP/GLY,,, 1,3703 0,1,1851 88 79 82 4850,5516,,, 4 1 2 dbSNP_131 82 0,8178 0,0,4089 yes missense,missense,intron,intron,intron XIRP2 NM_001199144.1,NM_152381.5,NM_001079810.3,NM_001199143.1,NM_001199145.1 94,94,,, 0,1,5940 AA,AG,GG 0.0,0.027,0.0084 probably-damaging,probably-damaging,,, 1617/3328,1839/3550,,, 168103418 1,11881 1852 4089 5941 SO:0001627 intron_variant AK056582 CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1 2q31.1 2013-10-25 2007-06-27 2007-06-27 ENSG00000163092 ENSG00000163092 129446 14303 protein-coding gene gene with protein product myomaxin 609778 cardiomyopathy associated 3 CMYA3 NA 17046827, 12203715, 15454575 Standard NM_152381 NM_001079810 NA Approved uc002udx.3 A4UGR9 OTTHUMG00000154027 ENST00000409728.1:c.1275+4998G>A chr2.hg19:g.168103418G>A NA A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6 hg19 CCDS56143.1 0.02 23.554945 AAGxTGA COVERED 31 0.014194139194139194 0 0.0 0 0.0 30 0.05244755244755245 1 0.0013192612137203166 G 16.37 3.104639 0.56291 2.7E-4 0.0 ENSG00000163092 ENST00000409195;ENST00000295237;ENST00000409273 T;T;T 0.04454 3.63;3.63;3.62 5.76 3.97 0.46021 . 0.156544 0.56097 N 0.000023 T 0.03053 0.0090 M 0.78049 2.395 0.58432 D 0.999999 D;D;P 0.89917 1.0;1.0;0.736 D;D;B 0.97110 0.999;1.0;0.275 T 0.00014 -1.2402 10 0.72032 D 0.01 -9.0373 11.3814 0.49759 0.1491:0.0:0.8509:0.0 . 1664;1664;1617 A4UGR9;A4UGR9-3;A4UGR9-2 XIRP2_HUMAN;.;. D 1839;1839;1617 ENSP00000386840:G1839D;ENSP00000295237:G1839D;ENSP00000387255:G1617D ENSP00000295237:G1839D G + 2 0 XIRP2 167811664 0.997000 0.39634 1.000000 0.80357 0.761000 0.43186 2.095000 0.41729 0.786000 0.33708 0.650000 0.86243 GGT NOVEL XIRP2-006 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000333552.1 2 14.446815 KEEP 0 0 0 48 1715 GG 1 1 0 + 41 60 1514 1 0 108.424341 486 60 17759 675 ENST00000409728.1 0.077799 1 XIRP2 129446 __UNKNOWN__ __UNKNOWN__ 2 168106246 168106246 __UNKNOWN__ Intron SNP G G A rs16853330 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:168106246G>A ENST00000409728.1 + 10 1364 XIRP2_ENST00000409195.1_Missense_Mutation_p.V2782I|XIRP2_ENST00000295237.9_Missense_Mutation_p.V2782I|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.V2560I|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron NM_001199143.1 NP_001186072.1 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 NA NA actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281) cell junction (GO:0030054)|Z disc (GO:0030018) NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AAGAGTGACAGTACAATTGCC 0.408 NA A||| 1181 0.235823 0.3623 0.1686 5008 , , NA 20362 0.2173 NA 0.1282 False NA ,,, NA NA NA 2504 0.2423 NA NA NA NA 0 A ,,ILE/VAL,,ILE/VAL 1194,2546 201,792,877 62 59 60 ,,7678,,8344 -5 0 2 dbSNP_123 60 926,7296 56,814,3241 yes intron,intron,missense,intron,missense XIRP2 NM_001079810.3,NM_001199143.1,NM_001199144.1,NM_001199145.1,NM_152381.5 ,,29,,29 257,1606,4118 AA,AG,GG 11.2625,31.9251,17.7228 ,,possibly-damaging,,possibly-damaging ,,2560/3328,,2782/3550 168106246 2120,9842 1870 4111 5981 SO:0001627 intron_variant AK056582 CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1 2q31.1 2013-10-25 2007-06-27 2007-06-27 ENSG00000163092 ENSG00000163092 129446 14303 protein-coding gene gene with protein product myomaxin 609778 cardiomyopathy associated 3 CMYA3 NA 17046827, 12203715, 15454575 Standard NM_152381 NM_001079810 NA Approved uc002udx.3 A4UGR9 OTTHUMG00000154027 ENST00000409728.1:c.1276-4296G>A chr2.hg19:g.168106246G>A NA A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6 hg19 CCDS56143.1 0.02 16.86302 ACAxTAC COVERED 480 0.21978021978021978 192 0.3902439024390244 52 0.143646408839779 136 0.23776223776223776 100 0.13192612137203166 A 0.029 -1.350948 0.01256 0.319251 0.112625 ENSG00000163092 ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534 T;T;T 0.02446 4.29;4.29;4.29 6.17 -5.01 0.02991 . 1.339210 0.04273 N 0.342418 T 0.00012 0.0000 N 0.02736 -0.51 0.80722 P 0.0 B;B;B 0.02656 0.0;0.0;0.0 B;B;B 0.01281 0.0;0.0;0.0 T 0.47849 -0.9085 9 0.05525 T 0.97 -0.4314 12.7259 0.57170 0.2092:0.2213:0.5694:0.0 rs16853330;rs52825904;rs61575660;rs16853330 2607;2607;2560 A4UGR9;A4UGR9-3;A4UGR9-2 XIRP2_HUMAN;.;. I 2782;2782;2560;196 ENSP00000386840:V2782I;ENSP00000295237:V2782I;ENSP00000387255:V2560I ENSP00000295237:V2782I V + 1 0 XIRP2 167814492 0.000000 0.05858 0.000000 0.03702 0.174000 0.22865 -0.912000 0.04046 -1.340000 0.02227 -0.254000 0.11334 GTA NOVEL XIRP2-006 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000333552.1 4 14.747938 KEEP 0 0 0 49 1762 GG 1 1 0 + 22 60 829 0 0 57.472317 337 60 12987 513 ENST00000409728.1 0.061281 1 XIRP2 129446 __UNKNOWN__ __UNKNOWN__ 2 168106479 168106479 __UNKNOWN__ Intron SNP T T C rs76493934 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:168106479T>C ENST00000409728.1 + 10 1364 XIRP2_ENST00000409195.1_Silent_p.D2859D|XIRP2_ENST00000295237.9_Silent_p.D2859D|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Silent_p.D2637D|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron NM_001199143.1 NP_001186072.1 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 NA NA actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281) cell junction (GO:0030054)|Z disc (GO:0030018) NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AGGTTATCGATGCACATCTTG 0.368 NA T||| 52 0.0103834 0.0 0.0 5008 , , NA 20719 0.0506 NA 0.001 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 T ,,,, 1,3777 0,1,1888 119 115 116 ,,7911,,8577 0.5 0 2 dbSNP_132 116 0,8222 0,0,4111 no intron,intron,coding-synonymous,intron,coding-synonymous XIRP2 NM_001079810.3,NM_001199143.1,NM_001199144.1,NM_001199145.1,NM_152381.5 ,,,, 0,1,5999 CC,CT,TT 0.0,0.0265,0.0083 ,,,, ,,2637/3328,,2859/3550 168106479 1,11999 1889 4111 6000 SO:0001627 intron_variant AK056582 CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1 2q31.1 2013-10-25 2007-06-27 2007-06-27 ENSG00000163092 ENSG00000163092 129446 14303 protein-coding gene gene with protein product myomaxin 609778 cardiomyopathy associated 3 CMYA3 NA 17046827, 12203715, 15454575 Standard NM_152381 NM_001079810 NA Approved uc002udx.3 A4UGR9 OTTHUMG00000154027 ENST00000409728.1:c.1276-4063T>C chr2.hg19:g.168106479T>C NA A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6 hg19 CCDS56143.1 0.02 17.727217 CGAxGCA COVERED NOVEL XIRP2-006 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000333552.1 4 15.944708 KEEP 0 0 0 53 1624 TT 1 1 0 + 21 60 754 0 0 49.251779 398 60 14654 560 ENST00000409728.1 0.050119 1 XIRP2 129446 __UNKNOWN__ __UNKNOWN__ 2 168107351 168107351 __UNKNOWN__ Intron SNP A A G rs3749003|rs386652433 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:168107351A>G ENST00000409728.1 + 10 1364 XIRP2_ENST00000409195.1_Missense_Mutation_p.Y3150C|XIRP2_ENST00000295237.9_Missense_Mutation_p.Y3150C|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.Y2928C|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron NM_001199143.1 NP_001186072.1 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 NA NA actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281) cell junction (GO:0030054)|Z disc (GO:0030018) NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AAGGACAGTTATGTTGAACCC 0.478 NA A||| 89 0.0177716 0.0 0.0058 5008 , , NA 18275 0.0774 NA 0.002 False NA ,,, NA NA NA 2504 0.0051 NA NA NA NA 0 A ,,,CYS/TYR,CYS/TYR 1,3755 0,1,1877 81 77 78 ,,,9449,8783 -5.2 0 2 dbSNP_107 78 0,8196 0,0,4098 yes intron,intron,intron,missense,missense XIRP2 NM_001079810.3,NM_001199143.1,NM_001199145.1,NM_152381.5,NM_001199144.1 ,,,194,194 0,1,5975 GG,GA,AA 0.0,0.0266,0.0084 ,,,benign,benign ,,,3150/3550,2928/3328 168107351 1,11951 1878 4098 5976 SO:0001627 intron_variant AK056582 CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1 2q31.1 2013-10-25 2007-06-27 2007-06-27 ENSG00000163092 ENSG00000163092 129446 14303 protein-coding gene gene with protein product myomaxin 609778 cardiomyopathy associated 3 CMYA3 NA 17046827, 12203715, 15454575 Standard NM_152381 NM_001079810 NA Approved uc002udx.3 A4UGR9 OTTHUMG00000154027 ENST00000409728.1:c.1276-3191A>G chr2.hg19:g.168107351A>G NA A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6 hg19 CCDS56143.1 0.02 24.953047 GTTxTGT COVERED 47 0.02152014652014652 0 0.0 1 0.0027624309392265192 44 0.07692307692307693 2 0.002638522427440633 A 0.384 -0.927303 0.02377 2.66E-4 0.0 ENSG00000163092 ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534 T;T;T 0.02345 4.33;4.33;4.33 5.88 -5.22 0.02806 . 1.384020 0.04190 N 0.328153 T 0.00109 0.0003 N 0.03115 -0.41 0.09310 N 1 B;B;B 0.02656 0.0;0.0;0.0 B;B;B 0.01281 0.0;0.0;0.0 T 0.47898 -0.9081 10 0.38643 T 0.18 0.7448 2.7319 0.05229 0.1542:0.3544:0.2981:0.1932 rs3749003;rs52829535;rs3749003 2975;2975;2928 A4UGR9;A4UGR9-3;A4UGR9-2 XIRP2_HUMAN;.;. C 3150;3150;2928;564 ENSP00000386840:Y3150C;ENSP00000295237:Y3150C;ENSP00000387255:Y2928C ENSP00000295237:Y3150C Y + 2 0 XIRP2 167815597 0.000000 0.05858 0.000000 0.03702 0.002000 0.02628 -0.191000 0.09601 -0.504000 0.06577 -0.479000 0.04858 TAT NOVEL XIRP2-006 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000333552.1 2 16.845891 KEEP 0 0 0 56 1680 AA 1 1 0 + 33 60 1243 0 0 87.14229 471 60 17061 704 ENST00000409728.1 0.065476 1 XIRP2 129446 __UNKNOWN__ __UNKNOWN__ 2 168108012 168108012 __UNKNOWN__ Intron SNP A A G rs2291111 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:168108012A>G ENST00000409728.1 + 10 1364 XIRP2_ENST00000409195.1_Silent_p.T3370T|XIRP2_ENST00000295237.9_Silent_p.T3370T|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Silent_p.T3148T|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron NM_001199143.1 NP_001186072.1 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 NA NA actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281) cell junction (GO:0030054)|Z disc (GO:0030018) p.T3370T(1) NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AAAGTCGTACATTTTGTAAGG 0.368 NA A||| 89 0.0177716 0.0 0.0058 5008 , , NA 21050 0.0774 NA 0.002 False NA ,,, NA NA NA 2504 0.0051 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) A ,,,, 1,3671 0,1,1835 131 127 128 ,,9444,,10110 -12.1 0 2 dbSNP_100 128 0,8178 0,0,4089 no intron,intron,coding-synonymous,intron,coding-synonymous XIRP2 NM_001079810.3,NM_001199143.1,NM_001199144.1,NM_001199145.1,NM_152381.5 ,,,, 0,1,5924 GG,GA,AA 0.0,0.0272,0.0084 ,,,, ,,3148/3328,,3370/3550 168108012 1,11849 1836 4089 5925 SO:0001627 intron_variant AK056582 CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1 2q31.1 2013-10-25 2007-06-27 2007-06-27 ENSG00000163092 ENSG00000163092 129446 14303 protein-coding gene gene with protein product myomaxin 609778 cardiomyopathy associated 3 CMYA3 NA 17046827, 12203715, 15454575 Standard NM_152381 NM_001079810 NA Approved uc002udx.3 A4UGR9 OTTHUMG00000154027 ENST00000409728.1:c.1276-2530A>G chr2.hg19:g.168108012A>G NA A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6 hg19 CCDS56143.1 0.02 10.838555 TACxTTT COVERED NOVEL XIRP2-006 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000333552.1 3 6.017024 KEEP 0 0 0 20 612 AA 0.999863 0.999863 0 + 17 60 585 0 0 39.62133 234 60 8503 306 ENST00000409728.1 0.067729 1 XIRP2 129446 __UNKNOWN__ __UNKNOWN__ 2 168108357 168108357 __UNKNOWN__ Intron SNP A A G rs1842233 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:168108357A>G ENST00000409728.1 + 10 1364 XIRP2_ENST00000409195.1_Silent_p.Q3485Q|XIRP2_ENST00000295237.9_Silent_p.Q3485Q|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Silent_p.Q3263Q|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron NM_001199143.1 NP_001186072.1 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 NA NA actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281) cell junction (GO:0030054)|Z disc (GO:0030018) NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AGACGTGGCAAGAGAGTGGAA 0.413 NA G||| 1729 0.345248 0.5477 0.2522 5008 , , NA 19870 0.3284 NA 0.169 False NA ,,, NA NA NA 2504 0.3364 NA NA NA NA 0 G ,,,, 1743,1959 418,907,526 61 63 62 ,,9789,,10455 1.4 1 2 dbSNP_92 62 1282,6876 99,1084,2896 yes intron,intron,coding-synonymous,intron,coding-synonymous XIRP2 NM_001079810.3,NM_001199143.1,NM_001199144.1,NM_001199145.1,NM_152381.5 ,,,, 517,1991,3422 GG,GA,AA 15.7146,47.0827,25.5059 ,,,, ,,3263/3328,,3485/3550 168108357 3025,8835 1851 4079 5930 SO:0001627 intron_variant AK056582 CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1 2q31.1 2013-10-25 2007-06-27 2007-06-27 ENSG00000163092 ENSG00000163092 129446 14303 protein-coding gene gene with protein product myomaxin 609778 cardiomyopathy associated 3 CMYA3 NA 17046827, 12203715, 15454575 Standard NM_152381 NM_001079810 NA Approved uc002udx.3 A4UGR9 OTTHUMG00000154027 ENST00000409728.1:c.1276-2185A>G chr2.hg19:g.168108357A>G NA A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6 hg19 CCDS56143.1 0.02 30.170397 GCAxGAG COVERED NOVEL XIRP2-006 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000333552.1 6 21.064506 KEEP 0 0 0 70 2250 AA 1 1 0 + 52 60 1967 0 0 143.388211 583 60 21302 829 ENST00000409728.1 0.08189 1 XIRP2 129446 __UNKNOWN__ __UNKNOWN__ 2 168115710 168115710 __UNKNOWN__ Missense_Mutation SNP T T G rs3749006 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:168115710T>G ENST00000409728.1 + 11 2842 c.2753T>G c.(2752-2754)gTt>gGt p.V918G XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409605.1_Missense_Mutation_p.V663G|XIRP2_ENST00000409756.2_Missense_Mutation_p.V885G|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409043.1_Missense_Mutation_p.V885G|XIRP2_ENST00000420519.1_Missense_Mutation_p.V918G NM_001199143.1 NP_001186072.1 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 0 NA actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281) cell junction (GO:0030054)|Z disc (GO:0030018) p.V918G(1) NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 CCTTGGCATGTTGAAACAACA 0.378 NA G||| 993 0.198283 0.3154 0.1297 5008 , , NA 19526 0.1974 NA 0.1143 False NA ,,, NA NA NA 2504 0.1759 NA NA NA NA 1 Substitution - Missense(1) stomach(1) G GLY/VAL,GLY/VAL,,GLY/VAL, 1061,2691 155,751,970 94 86 88 2654,2753,,1988, 0.6 0 2 dbSNP_107 88 800,7418 42,716,3351 yes missense,missense,utr-3,missense,utr-3 XIRP2 NM_001079810.3,NM_001199143.1,NM_001199144.1,NM_001199145.1,NM_152381.5 109,109,,109, 197,1467,4321 GG,GT,TT 9.7347,28.2783,15.5472 ,,,, 885/939,918/972,,663/717, 168115710 1861,10109 1876 4109 5985 SO:0001583 missense AK056582 CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1 2q31.1 2013-10-25 2007-06-27 2007-06-27 ENSG00000163092 ENSG00000163092 129446 14303 protein-coding gene gene with protein product myomaxin 609778 cardiomyopathy associated 3 CMYA3 NA 17046827, 12203715, 15454575 Standard NM_152381 NM_001079810 NA Approved uc002udx.3 A4UGR9 OTTHUMG00000154027 ENST00000409728.1:c.2753T>G chr2.hg19:g.168115710T>G ENSP00000386619:p.Val918Gly NA A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6 hg19 CCDS56143.1 0.02 25.661308 ATGxTGA COVERED 424 0.19413919413919414 175 0.3556910569105691 44 0.12154696132596685 115 0.20104895104895104 90 0.11873350923482849 G 1.293 -0.607143 0.03717 0.282783 0.097347 ENSG00000163092 ENST00000409043;ENST00000409728;ENST00000409756;ENST00000420519;ENST00000409605 T;T;T;T;T 0.74526 -0.81;-0.85;-0.81;-0.85;-0.78 5.78 0.61 0.17580 . . . . . T 0.00012 0.0000 . . . 0.80722 P 0.0 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.13791 -1.0496 7 0.02654 T 1 . 6.9138 0.24349 0.4555:0.0:0.4348:0.1097 rs3749006;rs52810449;rs58687090;rs3749006 885;918 A4UGR9-4;A4UGR9-6 .;. G 885;918;885;918;663 ENSP00000386454:V885G;ENSP00000386619:V918G;ENSP00000386724:V885G;ENSP00000415541:V918G;ENSP00000386981:V663G ENSP00000386454:V885G V + 2 0 XIRP2 167823956 0.001000 0.12720 0.001000 0.08648 0.253000 0.25986 -0.469000 0.06648 -0.148000 0.11234 -0.225000 0.12378 GTT NOVEL XIRP2-006 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000333552.1 3 17.03411 KEEP 0 1 6 59 1798 TT 1 1 0 + 49 60 1770 0 0 126.963697 544 60 19453 766 ENST00000409728.1 0.082631 1 XIRP2 129446 __UNKNOWN__ __UNKNOWN__ 2 168116187 168116187 __UNKNOWN__ 3'UTR SNP C C A rs386652434|rs1048981 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:168116187C>A ENST00000409728.1 + 0 3319 XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409605.1_3'UTR|XIRP2_ENST00000409756.2_3'UTR|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409043.1_3'UTR NM_001199143.1 NP_001186072.1 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 NA NA actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281) cell junction (GO:0030054)|Z disc (GO:0030018) NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 TATACTGCTGCTGCTTGTCAC 0.318 NA A||| 994 0.198482 0.3162 0.1297 5008 , , NA 17483 0.1974 NA 0.1143 False NA ,,, NA NA NA 2504 0.1759 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK056582 CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1 2q31.1 2013-10-25 2007-06-27 2007-06-27 ENSG00000163092 ENSG00000163092 129446 14303 protein-coding gene gene with protein product myomaxin 609778 cardiomyopathy associated 3 CMYA3 NA 17046827, 12203715, 15454575 Standard NM_152381 NM_001079810 NA Approved uc002udx.3 A4UGR9 OTTHUMG00000154027 ENST00000409728.1:c.*314C>A chr2.hg19:g.168116187C>A NA A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6 hg19 CCDS56143.1 0.02 11.238061 CTGxTGC COVERED NOVEL XIRP2-006 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000333552.1 2 7.524768 KEEP 0 0 0 25 907 CC 0.999931 0.999931 0 + 22 60 806 0 0 57.455763 263 60 10074 381 ENST00000409728.1 0.077193 1 XIRP2 129446 __UNKNOWN__ __UNKNOWN__ 2 168116189 168116189 __UNKNOWN__ 3'UTR SNP G G A rs1048982|rs386652434 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:168116189G>A ENST00000409728.1 + 0 3321 XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409605.1_3'UTR|XIRP2_ENST00000409756.2_3'UTR|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409043.1_3'UTR NM_001199143.1 NP_001186072.1 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 NA NA actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281) cell junction (GO:0030054)|Z disc (GO:0030018) NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 TACTGCTGCTGCTTGTCACAA 0.313 NA g||| 1106 0.220847 0.3616 0.1599 5008 , , NA 17416 0.2183 NA 0.1173 False NA ,,, NA NA NA 2504 0.183 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK056582 CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1 2q31.1 2013-10-25 2007-06-27 2007-06-27 ENSG00000163092 ENSG00000163092 129446 14303 protein-coding gene gene with protein product myomaxin 609778 cardiomyopathy associated 3 CMYA3 NA 17046827, 12203715, 15454575 Standard NM_152381 NM_001079810 NA Approved uc002udx.3 A4UGR9 OTTHUMG00000154027 ENST00000409728.1:c.*316G>A chr2.hg19:g.168116189G>A NA A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6 hg19 CCDS56143.1 0.02 10.78449 GCTxCTT COVERED NOVEL XIRP2-006 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000333552.1 2 7.22371 KEEP 0 0 0 24 864 GG 0.999909 0.999909 0 + 22 60 761 0 0 53.373131 258 60 9834 374 ENST00000409728.1 0.078571 1 STK39 27347 __UNKNOWN__ __UNKNOWN__ 2 168996775 168996775 __UNKNOWN__ Intron SNP T T C rs2278785 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:168996775T>C ENST00000355999.4 - 7 1546 NM_013233.2 NP_037365.2 Q9UEW8 STK39_HUMAN serine threonine kinase 39 NA NA cellular hypotonic response (GO:0071476)|intracellular signal transduction (GO:0035556)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of rubidium ion transmembrane transporter activity (GO:2000687)|negative regulation of rubidium ion transport (GO:2000681)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of potassium ion transport (GO:0043268)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|response to stress (GO:0006950)|signal transduction by phosphorylation (GO:0023014) apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702) central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2) 13 TCAACCCCGATGTAGTATTTC 0.403 NA C||| 2450 0.489217 0.5696 0.4366 5008 , , NA 20918 0.6845 NA 0.2922 False NA ,,, NA NA NA 2504 0.4192 NA NA NA NA 0 C 1826,1908 458,910,499 80 77 78 -1.4 0 2 dbSNP_100 78 2357,5845 329,1699,2073 no intron STK39 NM_013233.2 787,2609,2572 CC,CT,TT 28.7369,48.902,35.0452 168996775 4183,7753 1867 4101 5968 SO:0001627 intron_variant AF099989 CCDS42770.1 2q24.3 2010-06-25 2010-06-25 ENSG00000198648 ENSG00000198648 27347 17717 protein-coding gene gene with protein product STE20/SPS1 homolog (yeast) 607648 NA 10980603 Standard NM_013233 NM_013233 NA Approved DCHT, SPAK uc002uea.3 Q9UEW8 OTTHUMG00000133745 ENST00000355999.4:c.840+23A>G chr2.hg19:g.168996775T>C NA O14774|Q53S90|Q53SL7|Q53SS1|Q9UER4|X5D9C8 hg19 CCDS42770.1 0.02 2.159552 CGAxGTA COVERED NOVEL STK39-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000258112.2 1 3.308561 KEEP 0 0 0 11 320 TT 0.993072 0.992563 0 - 4 60 146 0 0 9.549685 79 60 2809 98 ENST00000355999.4 0.048193 0.999487 STK39 27347 __UNKNOWN__ __UNKNOWN__ 2 169088235 169088235 __UNKNOWN__ Intron SNP G G A rs7574739 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:169088235G>A ENST00000355999.4 - 1 914 NM_013233.2 NP_037365.2 Q9UEW8 STK39_HUMAN serine threonine kinase 39 NA NA cellular hypotonic response (GO:0071476)|intracellular signal transduction (GO:0035556)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of rubidium ion transmembrane transporter activity (GO:2000687)|negative regulation of rubidium ion transport (GO:2000681)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of potassium ion transport (GO:0043268)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|response to stress (GO:0006950)|signal transduction by phosphorylation (GO:0023014) apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702) central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2) 13 GTGTGCCAGAGTGCTCTGTGA 0.453 NA G||| 1074 0.214457 0.3109 0.2435 5008 , , NA 19449 0.3423 NA 0.0398 False NA ,,, NA NA NA 2504 0.1115 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF099989 CCDS42770.1 2q24.3 2010-06-25 2010-06-25 ENSG00000198648 ENSG00000198648 27347 17717 protein-coding gene gene with protein product STE20/SPS1 homolog (yeast) 607648 NA 10980603 Standard NM_013233 NM_013233 NA Approved DCHT, SPAK uc002uea.3 Q9UEW8 OTTHUMG00000133745 ENST00000355999.4:c.208+15502C>T chr2.hg19:g.169088235G>A NA O14774|Q53S90|Q53SL7|Q53SS1|Q9UER4|X5D9C8 hg19 CCDS42770.1 0.02 10.616189 AGAxTGC COVERED NOVEL STK39-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000258112.2 1 12.641699 KEEP 0 0 0 42 1535 GG 1 1 0 - 16 60 580 0 0 38.538959 283 60 10814 440 ENST00000355999.4 0.053512 1 ABCB11 8647 __UNKNOWN__ __UNKNOWN__ 2 169832971 169832971 __UNKNOWN__ Intron SNP C C T rs4148783 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:169832971C>T ENST00000263817.6 - 12 1433 NM_003742.2 NP_003733.2 O95342 ABCBB_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 11 NA NA bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810) apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215) breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1) 57 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541) AAGACACCTCCATTCCCTATT 0.413 NA C||| 317 0.0632987 0.0008 0.036 5008 , , NA 22831 0.2738 NA 0.0 False NA ,,, NA NA NA 2504 0.0153 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF091582 CCDS46444.1 2q24 2012-03-14 ENSG00000073734 ENSG00000073734 8647 ATP binding cassette transporters / subfamily B 42 protein-coding gene gene with protein product ABC member 16, MDR/TAP subfamily 603201 progressive familial intrahepatic cholestasis 2, bile salt export pump BSEP, PFIC2 NA 9806540 Standard NM_003742 NM_003742 NA Approved ABC16, SPGP, PFIC-2, PGY4 uc002ueo.1 O95342 OTTHUMG00000154039 ENST00000263817.6:c.1308+115G>A chr2.hg19:g.169832971C>T NA Q53TL2|Q9UNB2 hg19 CCDS46444.1 0.02 4.567641 CTCxATT COVERED NOVEL ABCB11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000333616.2 1 5.116514 KEEP 0 0 0 17 593 CC 0.999366 0.999366 0 - 14 60 519 0 0 38.419551 135 60 5009 187 ENST00000263817.6 0.09396 1 ABCB11 8647 __UNKNOWN__ __UNKNOWN__ 2 169847412 169847412 __UNKNOWN__ Silent SNP A A G rs2287616 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:169847412A>G ENST00000263817.6 - 9 931 c.807T>C c.(805-807)taT>taC p.Y269Y NM_003742.2 NP_003733.2 O95342 ABCBB_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 11 269 ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}. NA bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810) apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215) breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1) 57 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541) CCTTCAGCTCATAGTCCGTAA 0.398 NA A||| 324 0.0646965 0.0008 0.0346 5008 , , NA 20771 0.2867 NA 0.001 False NA ,,, NA NA NA 2504 0.0092 NA NA NA NA 0 A 15,3739 0,15,1862 131 129 130 807 -4.3 0 2 dbSNP_100 130 6,8222 0,6,4108 no coding-synonymous ABCB11 NM_003742.2 0,21,5970 GG,GA,AA 0.0729,0.3996,0.1753 269/1322 169847412 21,11961 1877 4114 5991 SO:0001819 synonymous_variant AF091582 CCDS46444.1 2q24 2012-03-14 ENSG00000073734 ENSG00000073734 8647 ATP binding cassette transporters / subfamily B 42 protein-coding gene gene with protein product ABC member 16, MDR/TAP subfamily 603201 progressive familial intrahepatic cholestasis 2, bile salt export pump BSEP, PFIC2 NA 9806540 Standard NM_003742 NM_003742 NA Approved ABC16, SPGP, PFIC-2, PGY4 uc002ueo.1 O95342 OTTHUMG00000154039 ENST00000263817.6:c.807T>C chr2.hg19:g.169847412A>G NA Q53TL2|Q9UNB2 hg19 CCDS46444.1 0.02 18.366182 CTCxTAG COVERED NOVEL ABCB11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000333616.2 3 17.451656 KEEP 0 0 0 58 1820 AA 1 1 0 - 35 60 1279 0 0 92.949594 368 60 13697 557 ENST00000263817.6 0.086849 1 ABCB11 8647 __UNKNOWN__ __UNKNOWN__ 2 169870855 169870855 __UNKNOWN__ Silent SNP A A G rs3815675 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:169870855A>G ENST00000263817.6 - 4 232 c.108T>C c.(106-108)gaT>gaC p.D36D NM_003742.2 NP_003733.2 O95342 ABCBB_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 11 36 NA bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810) apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215) breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1) 57 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541) CTTTCTTCTCATCTTGTAACC 0.363 NA a||| 316 0.063099 0.0008 0.0346 5008 , , NA 18565 0.2808 NA 0.0 False NA ,,, NA NA NA 2504 0.0082 NA NA NA NA 0 C 14,3704 0,14,1845 258 238 244 108 2.4 1 2 dbSNP_107 244 6,8184 0,6,4089 no coding-synonymous ABCB11 NM_003742.2 0,20,5934 GG,GA,AA 0.0733,0.3765,0.168 36/1322 169870855 20,11888 1859 4095 5954 SO:0001819 synonymous_variant AF091582 CCDS46444.1 2q24 2012-03-14 ENSG00000073734 ENSG00000073734 8647 ATP binding cassette transporters / subfamily B 42 protein-coding gene gene with protein product ABC member 16, MDR/TAP subfamily 603201 progressive familial intrahepatic cholestasis 2, bile salt export pump BSEP, PFIC2 NA 9806540 Standard NM_003742 NM_003742 NA Approved ABC16, SPGP, PFIC-2, PGY4 uc002ueo.1 O95342 OTTHUMG00000154039 ENST00000263817.6:c.108T>C chr2.hg19:g.169870855A>G NA Q53TL2|Q9UNB2 hg19 CCDS46444.1 0.02 11.693358 CTCxTCT COVERED NOVEL ABCB11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000333616.2 2 9.929202 KEEP 0 0 0 33 1033 AA 0.999998 0.999998 0 - 24 60 881 0 0 63.608067 266 60 9924 406 ENST00000263817.6 0.082759 1 LRP2 4036 __UNKNOWN__ __UNKNOWN__ 2 170029800 170029800 __UNKNOWN__ Intron SNP T T C rs17848190 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:170029800T>C ENST00000263816.3 - 57 11300 NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 NA NA cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359) apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) calcium ion binding (GO:0005509) biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) "Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013) CATTGTCACATTGAGGTTGTG 0.448 NA T||| 1068 0.213259 0.0998 0.0865 5008 , , NA 21491 0.371 NA 0.2097 False NA ,,, NA NA NA 2504 0.2975 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS2232.1 2q31.1 2013-05-28 2010-01-26 ENSG00000081479 ENSG00000081479 4036 Low density lipoprotein receptors 6694 protein-coding gene gene with protein product megalin 600073 NA 7959795 Standard NM_004525 NM_004525 NA Approved gp330, DBS uc002ues.3 P98164 OTTHUMG00000132179 ENST00000263816.3:c.11015-66A>G chr2.hg19:g.170029800T>C NA O00711|Q16215 hg19 CCDS2232.1 0.02 7.515042 ACAxTGA COVERED NOVEL LRP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255231.2 1 5.116198 KEEP 0 0 0 17 559 TT 0.999366 0.999366 0 - 13 60 505 0 0 36.94508 152 60 5535 212 ENST00000263816.3 0.078788 1 LRP2 4036 __UNKNOWN__ __UNKNOWN__ 2 170063783 170063783 __UNKNOWN__ Intron SNP T T C rs13417389 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:170063783T>C ENST00000263816.3 - 39 6755 NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 NA NA cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359) apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) calcium ion binding (GO:0005509) biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) "Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013) TGAAAGTGCATGCTGATCAAT 0.363 NA T||| 1396 0.278754 0.3275 0.1513 5008 , , NA 20301 0.3671 NA 0.2107 False NA ,,, NA NA NA 2504 0.2822 NA NA NA NA 0 T 1387,3015 220,947,1034 21 22 22 0.2 0 2 dbSNP_121 22 1685,6911 170,1345,2783 no intron LRP2 NM_004525.2 390,2292,3817 CC,CT,TT 19.6021,31.5084,23.6344 170063783 3072,9926 2201 4298 6499 SO:0001627 intron_variant CCDS2232.1 2q31.1 2013-05-28 2010-01-26 ENSG00000081479 ENSG00000081479 4036 Low density lipoprotein receptors 6694 protein-coding gene gene with protein product megalin 600073 NA 7959795 Standard NM_004525 NM_004525 NA Approved gp330, DBS uc002ues.3 P98164 OTTHUMG00000132179 ENST00000263816.3:c.6470-23A>G chr2.hg19:g.170063783T>C NA O00711|Q16215 hg19 CCDS2232.1 0.02 2.112071 GCAxGCT COVERED NOVEL LRP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255231.2 2 3.008561 KEEP 0 0 0 10 310 TT 0.992708 0.991583 0 - 8 60 271 0 0 19.765841 69 60 2505 90 ENST00000263816.3 0.103896 0.998867 LRP2 4036 __UNKNOWN__ __UNKNOWN__ 2 170089851 170089851 __UNKNOWN__ Intron SNP G G A rs2239595 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:170089851G>A ENST00000263816.3 - 30 5384 NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 NA NA cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359) apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) calcium ion binding (GO:0005509) biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) "Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013) GTAACAGTGTGCATTTAGCAT 0.418 NA G||| 1011 0.201877 0.0076 0.3184 5008 , , NA 22512 0.369 NA 0.1412 False NA ,,, NA NA NA 2504 0.272 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS2232.1 2q31.1 2013-05-28 2010-01-26 ENSG00000081479 ENSG00000081479 4036 Low density lipoprotein receptors 6694 protein-coding gene gene with protein product megalin 600073 NA 7959795 Standard NM_004525 NM_004525 NA Approved gp330, DBS uc002ues.3 P98164 OTTHUMG00000132179 ENST00000263816.3:c.5098+69C>T chr2.hg19:g.170089851G>A NA O00711|Q16215 hg19 CCDS2232.1 0.02 10.715028 TGTxCAT COVERED NOVEL LRP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255231.2 2 6.320469 KEEP 0 0 0 21 741 GG 0.999869 0.999869 0 - 21 60 737 0 0 51.861177 244 70 9244 338 ENST00000263816.3 0.079245 1 LRP2 4036 __UNKNOWN__ __UNKNOWN__ 2 170092395 170092395 __UNKNOWN__ Silent SNP A A G rs2229267 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:170092395A>G ENST00000263816.3 - 29 5160 c.4875T>C c.(4873-4875)tgT>tgC p.C1625C NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 1625 NA cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359) apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) calcium ion binding (GO:0005509) biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) "Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013) CATTATAATCACAAAAGTCCA 0.433 NA A||| 2310 0.461262 0.7088 0.4697 5008 , , NA 18625 0.4058 NA 0.2634 False NA ,,, NA NA NA 2504 0.3814 NA NA NA NA 0 A 2843,1563 668.4+/-402.0 933,977,293 133 122 126 4875 3 1 2 dbSNP_98 126 2073,6527 359.4+/-331.5 261,1551,2488 no coding-synonymous LRP2 NM_004525.2 1194,2528,2781 GG,GA,AA 24.1047,35.4744,37.7979 1625/4656 170092395 4916,8090 2203 4300 6503 SO:0001819 synonymous_variant CCDS2232.1 2q31.1 2013-05-28 2010-01-26 ENSG00000081479 ENSG00000081479 4036 Low density lipoprotein receptors 6694 protein-coding gene gene with protein product megalin 600073 NA 7959795 Standard NM_004525 NM_004525 NA Approved gp330, DBS uc002ues.3 P98164 OTTHUMG00000132179 ENST00000263816.3:c.4875T>C chr2.hg19:g.170092395A>G NA O00711|Q16215 hg19 CCDS2232.1 0.02 10.869042 ATCxCAA COVERED NOVEL LRP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255231.2 1 5.852594 KEEP 0 1 36 32 992 AA 0.999998 0.999998 0 - 28 60 959 1 0 69.165092 265 60 9625 404 ENST00000263816.3 0.095563 1 LRP2 4036 __UNKNOWN__ __UNKNOWN__ 2 170096018 170096018 __UNKNOWN__ Intron SNP G G A rs830973 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:170096018G>A ENST00000263816.3 - 26 4580 NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 NA NA cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359) apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) calcium ion binding (GO:0005509) biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) "Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013) AAACTGGCTCGGGTTAGTTCA 0.418 NA G||| 2224 0.444089 0.3684 0.513 5008 , , NA 18150 0.4742 NA 0.3191 False NA ,,, NA NA NA 2504 0.5951 NA NA NA NA 0 G 1821,2585 531.4+/-373.2 376,1069,758 87 78 81 -2.3 0 2 dbSNP_86 81 2623,5977 424.1+/-354.6 395,1833,2072 no intron LRP2 NM_004525.2 771,2902,2830 AA,AG,GG 30.5,41.33,34.1688 170096018 4444,8562 2203 4300 6503 SO:0001627 intron_variant CCDS2232.1 2q31.1 2013-05-28 2010-01-26 ENSG00000081479 ENSG00000081479 4036 Low density lipoprotein receptors 6694 protein-coding gene gene with protein product megalin 600073 NA 7959795 Standard NM_004525 NM_004525 NA Approved gp330, DBS uc002ues.3 P98164 OTTHUMG00000132179 ENST00000263816.3:c.4294+18C>T chr2.hg19:g.170096018G>A NA O00711|Q16215 hg19 CCDS2232.1 0.02 7.215173 CTCxGGT COVERED NOVEL LRP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255231.2 2 2.238224 KEEP 0 1 30 18 570 GG 0.99986 0.99986 0 - 14 60 534 0 0 39.27089 151 60 4923 214 ENST00000263816.3 0.084848 1 LRP2 4036 __UNKNOWN__ __UNKNOWN__ 2 170099446 170099446 __UNKNOWN__ Intron SNP T T G rs831041 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:170099446T>G ENST00000443831.1 - 22 3391 LRP2_ENST00000263816.3_Intron P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 NA NA cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359) apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) calcium ion binding (GO:0005509) biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) "Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013) TCTGAAACATTCTGGGTATGT 0.413 NA G||| 3098 0.61861 0.7201 0.6383 5008 , , NA 17663 0.4772 NA 0.4632 False NA ,,, NA NA NA 2504 0.773 NA NA NA NA 0 G 3047,1359 452.4+/-350.0 1064,919,220 140 141 141 -4.8 0 2 dbSNP_86 141 3919,4681 605.1+/-394.9 888,2143,1269 no intron LRP2 NM_004525.2 1952,3062,1489 GG,GT,TT 45.5698,30.8443,46.4401 170099446 6966,6040 2203 4300 6503 SO:0001627 intron_variant CCDS2232.1 2q31.1 2013-05-28 2010-01-26 ENSG00000081479 ENSG00000081479 4036 Low density lipoprotein receptors 6694 protein-coding gene gene with protein product megalin 600073 NA 7959795 Standard NM_004525 NM_004525 NA Approved gp330, DBS uc002ues.3 P98164 OTTHUMG00000132179 ENST00000443831.1:c.3256+19A>C chr2.hg19:g.170099446T>G NA O00711|Q16215 hg19 0.02 17.12054 CATxCTG COVERED NOVEL LRP2-005 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000337306.1 2 4.448338 KEEP 0 1 38 28 856 TT 0.999997 0.999997 0 - 22 60 855 0 0 59.081842 375 60 13521 513 ENST00000443831.1 0.055416 1 LRP2 4036 __UNKNOWN__ __UNKNOWN__ 2 170099473 170099473 __UNKNOWN__ Silent SNP T T C rs386652562|rs831042 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:170099473T>C ENST00000443831.1 - 22 3383 c.3249A>G c.(3247-3249)gcA>gcG p.A1083A LRP2_ENST00000263816.3_Silent_p.A1220A P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 1220 LDL-receptor class A 9. {ECO:0000255|PROSITE-ProRule:PRU00124}. NA H -> Q (in dbSNP:rs2302691). cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359) apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) calcium ion binding (GO:0005509) biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) "Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013) TACGACAGCCTGCTTCATCCG 0.413 NA C||| 2914 0.581869 0.6082 0.6153 5008 , , NA 18176 0.4772 NA 0.4612 False NA ,,, NA NA NA 2504 0.7546 NA NA NA NA 0 C 2681,1725 518.1+/-369.6 832,1017,354 161 158 159 3660 -7.4 0 2 dbSNP_86 159 3864,4736 608.9+/-395.5 862,2140,1298 no coding-synonymous LRP2 NM_004525.2 1694,3157,1652 CC,CT,TT 44.9302,39.1512,49.6771 1220/4656 170099473 6545,6461 2203 4300 6503 SO:0001819 synonymous_variant CCDS2232.1 2q31.1 2013-05-28 2010-01-26 ENSG00000081479 ENSG00000081479 4036 Low density lipoprotein receptors 6694 protein-coding gene gene with protein product megalin 600073 NA 7959795 Standard NM_004525 NM_004525 NA Approved gp330, DBS uc002ues.3 P98164 OTTHUMG00000132179 ENST00000443831.1:c.3249A>G chr2.hg19:g.170099473T>C NA O00711|Q16215 hg19 0.02 17.105713 GCCxGCT COVERED NOVEL LRP2-005 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000337306.1 2 4.281045 KEEP 0 2 65 37 1167 TT 1 1 0 - 23 60 792 0 0 51.277701 408 60 15388 603 ENST00000443831.1 0.053364 1 LRP2 4036 __UNKNOWN__ __UNKNOWN__ 2 170099895 170099895 __UNKNOWN__ Intron SNP A A C rs2075255 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:170099895A>C ENST00000443831.1 - 21 3274 LRP2_ENST00000263816.3_Intron P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 NA NA cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359) apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) calcium ion binding (GO:0005509) biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) "Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013) TGAATAAAAAAGAAGGCAATG 0.453 NA C||| 106 0.0211661 0.0575 0.0115 5008 , , NA 20355 0.0149 NA 0.007 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 C 3203,1203 397.9+/-330.6 1189,825,189 153 138 143 -2.8 0 2 dbSNP_96 143 3983,4617 584.2+/-391.7 945,2093,1262 no intron LRP2 NM_004525.2 2134,2918,1451 CC,CA,AA 46.314,27.3037,44.7486 170099895 7186,5820 2203 4300 6503 SO:0001627 intron_variant CCDS2232.1 2q31.1 2013-05-28 2010-01-26 ENSG00000081479 ENSG00000081479 4036 Low density lipoprotein receptors 6694 protein-coding gene gene with protein product megalin 600073 NA 7959795 Standard NM_004525 NM_004525 NA Approved gp330, DBS uc002ues.3 P98164 OTTHUMG00000132179 ENST00000443831.1:c.3139+17T>G chr2.hg19:g.170099895A>C NA O00711|Q16215 hg19 0.02 8.880578 AAAxGAA COVERED NOVEL LRP2-005 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000337306.1 0 6.31886 KEEP 0 0 0 21 671 AA 0.999869 0.999869 0 - 16 60 592 0 0 41.432382 220 60 7813 279 ENST00000443831.1 0.067797 1 LRP2 4036 __UNKNOWN__ __UNKNOWN__ 2 170099899 170099899 __UNKNOWN__ Intron SNP G G A rs2075254 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:170099899G>A ENST00000443831.1 - 21 3274 LRP2_ENST00000263816.3_Intron P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 NA NA cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359) apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) calcium ion binding (GO:0005509) biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) "Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013) TAAAAAAGAAGGCAATGCACT 0.448 NA A||| 3098 0.61861 0.7201 0.6383 5008 , , NA 19449 0.4772 NA 0.4632 False NA ,,, NA NA NA 2504 0.773 NA NA NA NA 0 A 3041,1365 445.9+/-347.8 1063,915,225 175 155 162 0.6 0 2 dbSNP_96 162 3913,4687 601.1+/-394.3 889,2135,1276 no intron LRP2 NM_004525.2 1952,3050,1501 AA,AG,GG 45.5,30.9805,46.5324 170099899 6954,6052 2203 4300 6503 SO:0001627 intron_variant CCDS2232.1 2q31.1 2013-05-28 2010-01-26 ENSG00000081479 ENSG00000081479 4036 Low density lipoprotein receptors 6694 protein-coding gene gene with protein product megalin 600073 NA 7959795 Standard NM_004525 NM_004525 NA Approved gp330, DBS uc002ues.3 P98164 OTTHUMG00000132179 ENST00000443831.1:c.3139+13C>T chr2.hg19:g.170099899G>A NA O00711|Q16215 hg19 0.02 8.047021 GAAxGCA COVERED NOVEL LRP2-005 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000337306.1 0 6.320417 KEEP 0 0 0 21 742 GG 0.999869 0.999869 0 - 16 60 571 0 0 39.212739 224 60 8504 287 ENST00000443831.1 0.066667 1 LRP2 4036 __UNKNOWN__ __UNKNOWN__ 2 170103336 170103336 __UNKNOWN__ Silent SNP T T C rs831043 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:170103336T>C ENST00000443831.1 - 19 2792 c.2658A>G c.(2656-2658)acA>acG p.T886T LRP2_ENST00000263816.3_Silent_p.T1023T P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 1023 NA cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359) apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) calcium ion binding (GO:0005509) biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) "Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013) CACACTGCTCTGTGGGTGGTT 0.493 NA C||| 3098 0.61861 0.7201 0.6369 5008 , , NA 17744 0.4792 NA 0.4622 False NA ,,, NA NA NA 2504 0.773 NA NA NA NA 0 C 3047,1359 452.6+/-350.1 1064,919,220 143 131 135 3069 -1.9 0 2 dbSNP_86 135 3921,4679 604.9+/-394.9 890,2141,1269 no coding-synonymous LRP2 NM_004525.2 1954,3060,1489 CC,CT,TT 45.593,30.8443,46.4247 1023/4656 170103336 6968,6038 2203 4300 6503 SO:0001819 synonymous_variant CCDS2232.1 2q31.1 2013-05-28 2010-01-26 ENSG00000081479 ENSG00000081479 4036 Low density lipoprotein receptors 6694 protein-coding gene gene with protein product megalin 600073 NA 7959795 Standard NM_004525 NM_004525 NA Approved gp330, DBS uc002ues.3 P98164 OTTHUMG00000132179 ENST00000443831.1:c.2658A>G chr2.hg19:g.170103336T>C NA O00711|Q16215 hg19 0.02 9.809551 CTCxGTG COVERED NOVEL LRP2-005 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000337306.1 4 3.005507 KEEP 0 3 97 44 1345 TT 1 1 0 - 17 60 593 0 0 39.061051 283 60 10501 411 ENST00000443831.1 0.056667 1 LRP2 4036 __UNKNOWN__ __UNKNOWN__ 2 170103351 170103351 __UNKNOWN__ Silent SNP G G T rs2075249 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:170103351G>T ENST00000443831.1 - 19 2777 c.2643C>A c.(2641-2643)acC>acA p.T881T LRP2_ENST00000263816.3_Silent_p.T1018T P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 1018 NA cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359) apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) calcium ion binding (GO:0005509) biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) "Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013) GTGGTTCATTGGTTGGGTCCC 0.512 NA G||| 2286 0.45647 0.208 0.5591 5008 , , NA 17421 0.4792 NA 0.4632 False NA ,,, NA NA NA 2504 0.6892 NA NA NA NA 0 G 1288,3118 436.6+/-344.7 185,918,1100 132 120 124 3054 3.3 0 2 dbSNP_96 124 3946,4654 550.0+/-385.7 910,2126,1264 no coding-synonymous LRP2 NM_004525.2 1095,3044,2364 TT,TG,GG 45.8837,29.2329,40.243 1018/4656 170103351 5234,7772 2203 4300 6503 SO:0001819 synonymous_variant CCDS2232.1 2q31.1 2013-05-28 2010-01-26 ENSG00000081479 ENSG00000081479 4036 Low density lipoprotein receptors 6694 protein-coding gene gene with protein product megalin 600073 NA 7959795 Standard NM_004525 NM_004525 NA Approved gp330, DBS uc002ues.3 P98164 OTTHUMG00000132179 ENST00000443831.1:c.2643C>A chr2.hg19:g.170103351G>T NA O00711|Q16215 hg19 0.02 12.782364 ATTxGTT COVERED NOVEL LRP2-005 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000337306.1 3 4.115878 KEEP 0 3 89 45 1610 GG 1 1 0 - 21 60 737 0 0 50.307704 292 60 10919 427 ENST00000443831.1 0.067093 1 LRP2 4036 __UNKNOWN__ __UNKNOWN__ 2 170115588 170115588 __UNKNOWN__ Silent SNP T T C rs2241190 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:170115588T>C ENST00000443831.1 - 15 2183 c.2049A>G c.(2047-2049)acA>acG p.T683T LRP2_ENST00000263816.3_Silent_p.T820T P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 809 EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}. NA cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359) apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) calcium ion binding (GO:0005509) biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) "Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013) ACTGAACTACTGTGCGTCTCG 0.393 NA T||| 3117 0.622404 0.7141 0.6383 5008 , , NA 16091 0.4841 NA 0.4791 False NA ,,, NA NA NA 2504 0.7771 NA NA NA NA 0 T 3037,1369 690.0+/-405.2 1052,933,218 152 149 150 2460 -0.8 0 2 dbSNP_98 150 4022,4578 555.8+/-386.7 941,2140,1219 no coding-synonymous LRP2 NM_004525.2 1993,3073,1437 CC,CT,TT 46.7674,31.0713,45.725 820/4656 170115588 7059,5947 2203 4300 6503 SO:0001819 synonymous_variant CCDS2232.1 2q31.1 2013-05-28 2010-01-26 ENSG00000081479 ENSG00000081479 4036 Low density lipoprotein receptors 6694 protein-coding gene gene with protein product megalin 600073 NA 7959795 Standard NM_004525 NM_004525 NA Approved gp330, DBS uc002ues.3 P98164 OTTHUMG00000132179 ENST00000443831.1:c.2049A>G chr2.hg19:g.170115588T>C NA O00711|Q16215 hg19 0.02 17.393198 TACxGTG COVERED NOVEL LRP2-005 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000337306.1 0 10.165436 KEEP 0 1 38 47 1494 TT 1 1 0 - 25 60 865 0 0 57.21696 398 60 15018 559 ENST00000443831.1 0.059102 1 SSB 6741 __UNKNOWN__ __UNKNOWN__ 2 170668106 170668106 __UNKNOWN__ Intron SNP G G A rs2246149 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:170668106G>A ENST00000409333.1 + 12 1385 SSB_ENST00000260956.4_Intron|METTL5_ENST00000409837.1_Intron P05455 LA_HUMAN Sjogren syndrome antigen B (autoantigen La) NA NA histone mRNA metabolic process (GO:0008334)|tRNA modification (GO:0006400) nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529) mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049) endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 ATCATTATTAGTAATTGTGCT 0.338 NA g||| 2822 0.563498 0.4781 0.7248 5008 , , NA 19221 0.4653 NA 0.7087 False NA ,,, NA NA NA 2504 0.5164 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS2237.1 2q31.1 2014-02-14 2005-06-16 ENSG00000138385 ENSG00000138385 6741 La ribonucleoprotein domain containing, RNA binding motif (RRM) containing 11316 protein-coding gene gene with protein product La ribonucleoprotein domain family, member 3 109090 NA Standard NM_003142 NM_003142 NA Approved LARP3, La, La/SSB uc002ufk.3 P05455 OTTHUMG00000132212 ENST00000409333.1:c.1139-72G>A chr2.hg19:g.170668106G>A NA Q15367|Q53XJ4 hg19 CCDS2237.1 0.02 2.326166 TTAxTAA COVERED NOVEL SSB-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000333316.1 3 4.51443 KEEP 0 0 0 15 523 GG 0.99649 0.989441 0 + 8 60 281 1 0 21.448158 56 60 2087 87 ENST00000409333.1 0.125 0.992926 METTL5 29081 __UNKNOWN__ __UNKNOWN__ 2 170668813 170668813 __UNKNOWN__ Intron SNP C C T rs3731674 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:170668813C>T ENST00000409340.1 - 5 370 METTL5_ENST00000260953.5_Intron|METTL5_ENST00000409965.1_Intron|METTL5_ENST00000410097.1_3'UTR|METTL5_ENST00000409837.1_Intron|METTL5_ENST00000392640.2_Intron|METTL5_ENST00000308099.3_Intron Q9NRN9 METL5_HUMAN methyltransferase like 5 NA NA methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676) breast(2)|central_nervous_system(1)|large_intestine(5)|lung(1)|prostate(1) 10 ttcagtggggcaatctcagct 0.483 NA C||| 2534 0.50599 0.3374 0.6916 5008 , , NA 16886 0.4474 NA 0.6769 False NA ,,, NA NA NA 2504 0.4867 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF201938 CCDS33320.1 2q31.1 2011-01-28 ENSG00000138382 ENSG00000138382 29081 25006 protein-coding gene gene with protein product NA 11042152 Standard NM_014168 XM_005246478 NA Approved HSPC133 uc002ufn.3 Q9NRN9 OTTHUMG00000154117 ENST00000409340.1:c.294+153G>A chr2.hg19:g.170668813C>T NA D3DPC9|Q9NVX1 hg19 0.02 1.731103 GGGxAAT COVERED NOVEL METTL5-006 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000333962.1 1 5.717491 KEEP 0 0 0 19 624 CC 0.99986 0.999808 0 - 8 60 255 0 0 17.335991 90 60 3249 122 ENST00000409340.1 0.081633 0.999948 MYO3B 140469 __UNKNOWN__ __UNKNOWN__ 2 171070810 171070810 __UNKNOWN__ Intron SNP G G T rs67994603 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:171070810G>T ENST00000408978.4 + 4 464 MYO3B_ENST00000602629.1_Intron|MYO3B_ENST00000334231.6_Intron|MYO3B_ENST00000409044.3_Intron NM_138995.4 NP_620482.3 Q8WXR4 MYO3B_HUMAN myosin IIIB NA NA peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601) cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426) ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674) breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 AGTATCAGTCGGCTTTTCTTA 0.398 NA G||| 2737 0.546526 0.5106 0.6297 5008 , , NA 16461 0.5466 NA 0.5388 False NA ,,, NA NA NA 2504 0.544 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS42773.1, CCDS46446.1 2q31.1-q31.2 2011-09-27 ENSG00000071909 ENSG00000071909 140469 Myosins / Myosin superfamily : Class III 15576 protein-coding gene gene with protein product 610040 NA Standard NM_001083615 NA Approved uc002ufy.3 Q8WXR4 OTTHUMG00000154002 ENST00000408978.4:c.322-79G>T chr2.hg19:g.171070810G>T NA B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94 hg19 CCDS42773.1 0.02 4.478518 GTCxGCT COVERED NOVEL MYO3B-004 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000333410.1 1 6.922235 KEEP 0 0 0 23 804 GG 0.999892 0.999892 0 + 10 60 369 0 0 25.787101 138 60 4493 195 ENST00000408978.4 0.067568 1 MYO3B 140469 __UNKNOWN__ __UNKNOWN__ 2 171225841 171225841 __UNKNOWN__ Missense_Mutation SNP A A G rs4668246 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:171225841A>G ENST00000408978.4 + 9 1068 c.925A>G c.(925-927)Aag>Gag p.K309E MYO3B_ENST00000334231.6_Missense_Mutation_p.K318E|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.K309E NM_138995.4 NP_620482.3 Q8WXR4 MYO3B_HUMAN myosin IIIB 309 NA K -> E (in dbSNP:rs4668246). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:17344846}. peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601) cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426) ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674) breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 ACAGCTGGCCAAGGTTCTCCA 0.408 NA A||| 1515 0.302516 0.0756 0.4164 5008 , , NA 17794 0.4216 NA 0.4056 False NA ,,, NA NA NA 2504 0.2996 NA NA NA NA 0 A GLU/LYS,GLU/LYS,GLU/LYS 407,3271 18,371,1450 122 106 111 925,925,925 3.7 1 2 dbSNP_111 111 3244,4966 621,2002,1482 yes missense,missense,missense MYO3B NM_001083615.2,NM_001171642.1,NM_138995.3 56,56,56 639,2373,2932 GG,GA,AA 39.5128,11.0658,30.7116 benign,benign,benign 309/1315,309/1276,309/1342 171225841 3651,8237 1839 4105 5944 SO:0001583 missense CCDS42773.1, CCDS46446.1 2q31.1-q31.2 2011-09-27 ENSG00000071909 ENSG00000071909 140469 Myosins / Myosin superfamily : Class III 15576 protein-coding gene gene with protein product 610040 NA Standard NM_001083615 NA Approved uc002ufy.3 Q8WXR4 OTTHUMG00000154002 ENST00000408978.4:c.925A>G chr2.hg19:g.171225841A>G ENSP00000386213:p.Lys309Glu NA B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94 hg19 CCDS42773.1 0.02 17.289981 GCCxAGG COVERED 703|703 0.3218864468864469|0.3218864468864469 49|49 0.09959349593495935|0.09959349593495935 127|127 0.35082872928176795|0.35082872928176795 221|221 0.38636363636363635|0.38636363636363635 306|306 0.40369393139841686|0.40369393139841686 A|A 4.671|4.671 0.124723|0.124723 0.08931|0.08931 0.110658|0.110658 0.395128|0.395128 ENSG00000071909|ENSG00000071909 ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231|ENST00000442690 T;T;T;T|. 0.77489|. -1.09;-1.1;-1.09;-1.1|. 6.06|6.06 3.72|3.72 0.42706|0.42706 Protein kinase-like domain (1);|. 0.514386|. 0.24072|. N|. 0.041812|. T|T 0.00012|0.00012 0.0000|0.0000 N|N 0.12569|0.12569 0.235|0.235 0.38797|0.38797 P|P 0.04488800000000004|0.04488800000000004 B;B;B;B|. 0.06786|. 0.001;0.0;0.001;0.0|. B;B;B;B|. 0.08055|. 0.003;0.001;0.002;0.001|. T|T 0.47649|0.47649 -0.9101|-0.9101 9|4 0.02654|. T|. 1|. .|. 7.3084|7.3084 0.26461|0.26461 0.7512:0.0:0.2488:0.0|0.7512:0.0:0.2488:0.0 rs4668246;rs17497378;rs52830177;rs57795564;rs4668246|rs4668246;rs17497378;rs52830177;rs57795564;rs4668246 309;309;309;309|. Q8WXR4-5;B7ZM71;Q8WXR4-4;Q8WXR4|. .;.;.;MYO3B_HUMAN|. E|R 309;309;308;318;318|308 ENSP00000386497:K309E;ENSP00000386213:K309E;ENSP00000446237:K318E;ENSP00000335100:K318E|. ENSP00000314213:K308E|. K|Q +|+ 1|2 0|0 MYO3B|MYO3B 170934087|170934087 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.989000|0.989000 0.77384|0.77384 2.472000|2.472000 0.45136|0.45136 1.104000|1.104000 0.41587|0.41587 0.528000|0.528000 0.53228|0.53228 AAG|CAA NOVEL MYO3B-004 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000333410.1 5 11.840207 KEEP 0 3 111 78 2422 AA 1 1 0 + 24 60 825 0 0 54.233724 388 60 14194 612 ENST00000408978.4 0.058252 1 MYO3B 140469 __UNKNOWN__ __UNKNOWN__ 2 171240249 171240249 __UNKNOWN__ Silent SNP C C T rs11675394 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:171240249C>T ENST00000408978.4 + 12 1358 c.1215C>T c.(1213-1215)cgC>cgT p.R405R MYO3B_ENST00000334231.6_Silent_p.R414R|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Silent_p.R405R NM_138995.4 NP_620482.3 Q8WXR4 MYO3B_HUMAN myosin IIIB 405 Myosin motor. NA peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601) cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426) ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674) p.S397_A406del(1) breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 GGGTGAAACGCGCCTCCAATC 0.453 NA C||| 1079 0.215455 0.0303 0.2493 5008 , , NA 20601 0.2887 NA 0.325 False NA ,,, NA NA NA 2504 0.2536 NA NA NA NA 1 Deletion - In frame(1) ovary(1) C ,, 327,3487 13,301,1593 120 112 114 1215,1215,1215 -2.5 1 2 dbSNP_120 114 2679,5543 437,1805,1869 no coding-synonymous,coding-synonymous,coding-synonymous MYO3B NM_001083615.2,NM_001171642.1,NM_138995.3 ,, 450,2106,3462 TT,TC,CC 32.5833,8.5737,24.9751 ,, 405/1315,405/1276,405/1342 171240249 3006,9030 1907 4111 6018 SO:0001819 synonymous_variant CCDS42773.1, CCDS46446.1 2q31.1-q31.2 2011-09-27 ENSG00000071909 ENSG00000071909 140469 Myosins / Myosin superfamily : Class III 15576 protein-coding gene gene with protein product 610040 NA Standard NM_001083615 NA Approved uc002ufy.3 Q8WXR4 OTTHUMG00000154002 ENST00000408978.4:c.1215C>T chr2.hg19:g.171240249C>T NA B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94 hg19 CCDS42773.1 0.02 6.55132 ACGxGCC COVERED NOVEL MYO3B-004 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000333410.1 0 5.718322 KEEP 0 0 0 19 660 CC 0.99986 0.99986 0 + 13 60 425 0 0 29.118723 148 60 5374 222 ENST00000408978.4 0.080745 1 MYO3B 140469 __UNKNOWN__ __UNKNOWN__ 2 171242865 171242865 __UNKNOWN__ Intron SNP G G T rs201868398|rs9646733 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:171242865G>T ENST00000408978.4 + 13 1517 MYO3B_ENST00000334231.6_Intron|MYO3B_ENST00000602629.1_Intron|MYO3B_ENST00000409044.3_Intron NM_138995.4 NP_620482.3 Q8WXR4 MYO3B_HUMAN myosin IIIB NA NA peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601) cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426) ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674) breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 GAAGTGCTGGGTTTTTTTTAT 0.398 NA G||| 983 0.196286 0.0257 0.1556 5008 , , NA 20622 0.2877 NA 0.3082 False NA ,,, NA NA NA 2504 0.2464 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS42773.1, CCDS46446.1 2q31.1-q31.2 2011-09-27 ENSG00000071909 ENSG00000071909 140469 Myosins / Myosin superfamily : Class III 15576 protein-coding gene gene with protein product 610040 NA Standard NM_001083615 NA Approved uc002ufy.3 Q8WXR4 OTTHUMG00000154002 ENST00000408978.4:c.1374+83G>T chr2.hg19:g.171242865G>T NA B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94 hg19 CCDS42773.1 0.02 6.44586 TGGxTTT COVERED NOVEL MYO3B-004 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000333410.1 0 4.815656 KEEP 0 0 0 16 563 GG 0.997832 0.997832 0 + 18 60 625 0 0 46.060454 154 60 5705 210 ENST00000408978.4 0.104651 1 MYO3B 140469 __UNKNOWN__ __UNKNOWN__ 2 171242878 171242878 __UNKNOWN__ Intron SNP A A G rs9646782 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:171242878A>G ENST00000408978.4 + 13 1517 MYO3B_ENST00000334231.6_Intron|MYO3B_ENST00000602629.1_Intron|MYO3B_ENST00000409044.3_Intron NM_138995.4 NP_620482.3 Q8WXR4 MYO3B_HUMAN myosin IIIB NA NA peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601) cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426) ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674) breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 TTTTTTATTAAGGCTTACATA 0.408 NA G||| 986 0.196885 0.0265 0.1556 5008 , , NA 20770 0.2887 NA 0.3091 False NA ,,, NA NA NA 2504 0.2464 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS42773.1, CCDS46446.1 2q31.1-q31.2 2011-09-27 ENSG00000071909 ENSG00000071909 140469 Myosins / Myosin superfamily : Class III 15576 protein-coding gene gene with protein product 610040 NA Standard NM_001083615 NA Approved uc002ufy.3 Q8WXR4 OTTHUMG00000154002 ENST00000408978.4:c.1374+96A>G chr2.hg19:g.171242878A>G NA B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94 hg19 CCDS42773.1 0.02 4.867436 TTAxGGC COVERED NOVEL MYO3B-004 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000333410.1 0 3.910297 KEEP 0 0 0 13 393 AA 0.994391 0.994391 0 + 13 60 482 0 0 35.284932 135 60 4989 177 ENST00000408978.4 0.087838 1 AC007277.3 0 __UNKNOWN__ __UNKNOWN__ 2 171533277 171533277 __UNKNOWN__ RNA SNP G G A rs7609130 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:171533277G>A ENST00000428156.1 - 0 648 NA NA NA agcctgggcagcagagcaaga 0.547 NA A||| 2667 0.532548 0.3056 0.415 5008 , , NA 16372 0.6964 NA 0.6471 False NA ,,, NA NA NA 2504 0.636 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000428156.1: chr2.hg19:g.171533277G>A NA hg19 0.02 -0.026313 GCAxCAG UNCOVERED NOVEL AC007277.3-001 KNOWN basic antisense NA antisense OTTHUMT00000333674.1 1 2.40782 KEEP 0 0 0 8 287 GG 0.99257 0 0 - 2 60 73 0 0 7.425504 1 60 26 13 ENST00000428156.1 0.666667 0 GORASP2 26003 __UNKNOWN__ __UNKNOWN__ 2 171822576 171822576 __UNKNOWN__ Missense_Mutation SNP C C T rs3770436 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:171822576C>T ENST00000234160.4 + 10 2110 c.1295C>T c.(1294-1296)tCc>tTc p.S432F GORASP2_ENST00000452526.2_Missense_Mutation_p.S444F NM_001201428.1|NM_015530.4 NP_001188357.1|NP_056345.3 Q9H8Y8 GORS2_HUMAN golgi reassembly stacking protein 2, 55kDa 432 NA S -> F (in dbSNP:rs3770436). {ECO:0000269|PubMed:14702039}. mitotic cell cycle (GO:0000278)|organelle organization (GO:0006996) Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|plasma membrane (GO:0005886) breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1) 14 GTCGGCGACTCCACCCCAGTC 0.552 NA C||| 588 0.117412 0.0083 0.1023 5008 , , NA 18226 0.3046 NA 0.0129 False NA ,,, NA NA NA 2504 0.1902 NA NA NA NA 0 C PHE/SER,PHE/SER 71,4335 63.5+/-100.7 0,71,2132 61 63 62 1091,1295 5 0.1 2 dbSNP_107 62 141,8459 70.7+/-133.2 1,139,4160 yes missense,missense GORASP2 NM_001201428.1,NM_015530.4 155,155 1,210,6292 TT,TC,CC 1.6395,1.6114,1.63 possibly-damaging,possibly-damaging 364/385,432/453 171822576 212,12794 2203 4300 6503 SO:0001583 missense CCDS33325.1 2q31.1 2012-09-20 2002-08-29 ENSG00000115806 ENSG00000115806 26003 17500 protein-coding gene gene with protein product 608693 golgi reassembly stacking protein 2, 55 kDa NA 10487747 Standard NM_015530 NA Approved GRASP55, GRS2, GOLPH6 uc002ugj.3 Q9H8Y8 OTTHUMG00000154072 ENST00000234160.4:c.1295C>T chr2.hg19:g.171822576C>T ENSP00000234160:p.Ser432Phe NA B4DKT0|Q53TE3|Q96I74|Q96K84|Q9H946|Q9UFW4 hg19 CCDS33325.1 0.02 14.669097 ACTxCAC COVERED 235 0.10760073260073261 8 0.016260162601626018 38 0.10497237569060773 179 0.3129370629370629 10 0.013192612137203167 C 11.62 1.692918 0.30052 0.016114 0.016395 ENSG00000115806 ENST00000234160;ENST00000452526 T;T 0.52057 0.72;0.68 5.85 4.96 0.65561 . 0.418109 0.26307 N 0.025138 T 0.00012 0.0000 L 0.29908 0.895 0.43073 P 0.005288999999999988 P;P;P 0.43169 0.612;0.8;0.612 B;P;B 0.45037 0.347;0.467;0.347 T 0.26643 -1.0097 9 0.41790 T 0.15 -1.7163 14.9926 0.71401 0.0:0.853:0.147:0.0 rs3770436;rs52799548;rs57172455;rs3770436 388;444;432 B4DNR1;B4DKT0;Q9H8Y8 .;.;GORS2_HUMAN F 432;444 ENSP00000234160:S432F;ENSP00000410208:S444F ENSP00000234160:S432F S + 2 0 GORASP2 171530822 0.042000 0.20092 0.050000 0.19076 0.005000 0.04900 3.264000 0.51553 1.424000 0.47217 0.655000 0.94253 TCC NOVEL GORASP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000333719.2 1 29.193242 KEEP 0 0 0 97 3368 CC 1 1 0 + 21 60 728 0 0 48.111867 338 60 12306 557 ENST00000234160.4 0.058496 1 TLK1 9874 __UNKNOWN__ __UNKNOWN__ 2 171850329 171850329 __UNKNOWN__ Silent SNP T T G rs3731993 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:171850329T>G ENST00000431350.2 - 21 2666 c.2262A>C c.(2260-2262)gcA>gcC p.A754A TLK1_ENST00000521943.1_Silent_p.A706A|TLK1_ENST00000434911.2_Silent_p.A658A|TLK1_ENST00000360843.3_Silent_p.A775A|TLK1_ENST00000442919.2_Silent_p.A706A Q9UKI8 TLK1_HUMAN tousled-like kinase 1 754 NA cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672) nucleus (GO:0005634) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 33 GTGTAGGGGATGCTGTCAGCC 0.438 NA T||| 566 0.113019 0.0083 0.1037 5008 , , NA 17307 0.2917 NA 0.0209 False NA ,,, NA NA NA 2504 0.1718 NA NA NA NA 0 T ,, 72,4334 64.1+/-101.4 0,72,2131 156 144 148 2118,1974,2262 4.9 1 2 dbSNP_107 148 147,8453 72.6+/-135.2 2,143,4155 no coding-synonymous,coding-synonymous,coding-synonymous TLK1 NM_001136554.1,NM_001136555.1,NM_012290.4 ,, 2,215,6286 GG,GT,TT 1.7093,1.6341,1.6838 ,, 706/719,658/671,754/767 171850329 219,12787 2203 4300 6503 SO:0001819 synonymous_variant AB004885 CCDS2241.1, CCDS46447.1, CCDS46448.1 2q31.1 2010-04-19 ENSG00000198586 ENSG00000198586 9874 11841 protein-coding gene gene with protein product 608438 NA 9427565, 12660173 Standard NM_012290 NM_012290 NA Approved KIAA0137, PKU-BETA uc002ugp.2 Q9UKI8 OTTHUMG00000132243 ENST00000431350.2:c.2262A>C chr2.hg19:g.171850329T>G NA B3KR15|B4DX87|Q14150|Q8N591|Q9NYH2|Q9Y4F6 hg19 CCDS2241.1 0.02 30.206244 GGAxGCT COVERED NOVEL TLK1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255314.1 43 24.946862 KEEP 0 0 0 83 2599 TT 1 1 0 - 42 60 1577 0 0 110.691286 590 60 21408 859 ENST00000431350.2 0.066456 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 172378657 172378657 __UNKNOWN__ IGR SNP T T G rs884409 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:172378657T>G NA NA DCAF17 (37095 upstream) : CYBRD1 (99 downstream) NA NA NA ACTGCCCTACTCAACCTCCCC 0.468 NA T||| 1138 0.227236 0.4123 0.1441 5008 , , NA 18240 0.1488 NA 0.168 False NA ,,, NA NA NA 2504 0.1779 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.172378657T>G NA hg19 0.02 4.738249 TACxCAA COVERED NOVEL 0 2 11.133514 KEEP 0 3 94 70 2121 TT 1 1 0 13 60 433 0 0 30.679947 128 60 4761 258 0.092199 1 CYBRD1 79901 __UNKNOWN__ __UNKNOWN__ 2 172378818 172378818 __UNKNOWN__ Intron SNP A A G rs868106 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:172378818A>G ENST00000409484.1 + 1 45 NM_001256909.1 NP_001243838.1 Q53TN4 CYBR1_HUMAN cytochrome b reductase 1 NA NA cellular iron ion homeostasis (GO:0006879)|response to iron ion (GO:0010039)|transmembrane transport (GO:0055085) brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)|oxidoreductase activity, oxidizing metal ions (GO:0016722) endometrium(1)|kidney(1)|large_intestine(3)|liver(2)|lung(3) 10 CCACCAGGCAATGAGCGCCCT 0.627 NA G||| 3644 0.727636 0.8374 0.6383 5008 , , NA 15059 0.8423 NA 0.5239 False NA ,,, NA NA NA 2504 0.7342 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK027115 CCDS2244.1, CCDS46449.1, CCDS58736.1 2q31 2013-03-14 ENSG00000071967 ENSG00000071967 79901 Cytochrome b genes 20797 protein-coding gene gene with protein product ferric-chelate reductase 3, cytochrome b561 family, member A2 605745 NA 11230685 Standard NM_024843 NM_001127383 NA Approved DCYTB, FLJ23462, FRRS3, CYB561A2 uc002ugy.4 Q53TN4 OTTHUMG00000132260 ENST00000409484.1:c.19+17A>G chr2.hg19:g.172378818A>G NA B2RE79|B4DWD7|Q6KC16|Q6KC17|Q6P147|Q6ZR51|Q9H0Q8|Q9H5G5 hg19 CCDS58736.1 0.02 12.436908 GCAxTGA COVERED NOVEL CYBRD1-002 PUTATIVE basic|CCDS protein_coding NA protein_coding OTTHUMT00000333779.1 1 17.857822 KEEP 0 6 214 134 4081 AA 1 1 0 + 22 60 834 0 0 60.25618 263 60 9508 521 ENST00000409484.1 0.077193 1 CYBRD1 79901 __UNKNOWN__ __UNKNOWN__ 2 172378889 172378889 __UNKNOWN__ 5'UTR SNP C C G rs2356782 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:172378889C>G ENST00000321348.4 + 0 32 CYBRD1_ENST00000468308.1_3'UTR|CYBRD1_ENST00000409484.1_Intron NM_024843.3 NP_079119.3 Q53TN4 CYBR1_HUMAN cytochrome b reductase 1 NA NA cellular iron ion homeostasis (GO:0006879)|response to iron ion (GO:0010039)|transmembrane transport (GO:0055085) brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)|oxidoreductase activity, oxidizing metal ions (GO:0016722) endometrium(1)|kidney(1)|large_intestine(3)|liver(2)|lung(3) 10 CTCCCCACCCCCAAGAGGCCC 0.721 NA C||| 3640 0.726837 0.8381 0.6383 5008 , , NA 13345 0.8393 NA 0.5229 False NA ,,, NA NA NA 2504 0.7331 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AK027115 CCDS2244.1, CCDS46449.1, CCDS58736.1 2q31 2013-03-14 ENSG00000071967 ENSG00000071967 79901 Cytochrome b genes 20797 protein-coding gene gene with protein product ferric-chelate reductase 3, cytochrome b561 family, member A2 605745 NA 11230685 Standard NM_024843 NM_001127383 NA Approved DCYTB, FLJ23462, FRRS3, CYB561A2 uc002ugy.4 Q53TN4 OTTHUMG00000132260 ENST00000321348.4:c.-167C>G chr2.hg19:g.172378889C>G NA B2RE79|B4DWD7|Q6KC16|Q6KC17|Q6P147|Q6ZR51|Q9H0Q8|Q9H5G5 hg19 CCDS2244.1 0.02 9.926132 CCCxCAA COVERED NOVEL CYBRD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255344.2 5 15.986194 KEEP 0 4 134 100 3451 CC 1 1 0 + 13 60 463 0 0 31.401254 195 60 7033 380 ENST00000321348.4 0.0625 1 CYBRD1 79901 __UNKNOWN__ __UNKNOWN__ 2 172379686 172379686 __UNKNOWN__ Intron SNP G G A rs960750 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:172379686G>A ENST00000321348.4 + 1 391 CYBRD1_ENST00000468308.1_Intron|CYBRD1_ENST00000375252.3_Intron|CYBRD1_ENST00000409484.1_Intron NM_024843.3 NP_079119.3 Q53TN4 CYBR1_HUMAN cytochrome b reductase 1 NA NA cellular iron ion homeostasis (GO:0006879)|response to iron ion (GO:0010039)|transmembrane transport (GO:0055085) brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)|oxidoreductase activity, oxidizing metal ions (GO:0016722) endometrium(1)|kidney(1)|large_intestine(3)|liver(2)|lung(3) 10 GAGCCTGCGCGATCGGGGGCG 0.682 NA A||| 3567 0.71226 0.8177 0.6311 5008 , , NA 12485 0.8383 NA 0.5229 False NA ,,, NA NA NA 2504 0.6922 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK027115 CCDS2244.1, CCDS46449.1, CCDS58736.1 2q31 2013-03-14 ENSG00000071967 ENSG00000071967 79901 Cytochrome b genes 20797 protein-coding gene gene with protein product ferric-chelate reductase 3, cytochrome b561 family, member A2 605745 NA 11230685 Standard NM_024843 NM_001127383 NA Approved DCYTB, FLJ23462, FRRS3, CYB561A2 uc002ugy.4 Q53TN4 OTTHUMG00000132260 ENST00000321348.4:c.193+438G>A chr2.hg19:g.172379686G>A NA B2RE79|B4DWD7|Q6KC16|Q6KC17|Q6P147|Q6ZR51|Q9H0Q8|Q9H5G5 hg19 CCDS2244.1 0.02 4.112865 CGCxATC COVERED NOVEL CYBRD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255344.2 0 18.025986 KEEP 0 2 63 82 2836 GG 1 1 0 + 8 60 287 0 0 19.109911 136 60 4458 282 ENST00000321348.4 0.055556 1 CYBRD1 79901 __UNKNOWN__ __UNKNOWN__ 2 172379781 172379781 __UNKNOWN__ Intron SNP G G A rs960749 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:172379781G>A ENST00000321348.4 + 1 391 CYBRD1_ENST00000468308.1_Intron|CYBRD1_ENST00000375252.3_Intron|CYBRD1_ENST00000409484.1_Intron NM_024843.3 NP_079119.3 Q53TN4 CYBR1_HUMAN cytochrome b reductase 1 NA NA cellular iron ion homeostasis (GO:0006879)|response to iron ion (GO:0010039)|transmembrane transport (GO:0055085) brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)|oxidoreductase activity, oxidizing metal ions (GO:0016722) endometrium(1)|kidney(1)|large_intestine(3)|liver(2)|lung(3) 10 AAAGATTGCCGGAGCGAGAAT 0.602 NA G||| 3534 0.705671 0.7935 0.6297 5008 , , NA 15740 0.8383 NA 0.5219 False NA ,,, NA NA NA 2504 0.6933 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK027115 CCDS2244.1, CCDS46449.1, CCDS58736.1 2q31 2013-03-14 ENSG00000071967 ENSG00000071967 79901 Cytochrome b genes 20797 protein-coding gene gene with protein product ferric-chelate reductase 3, cytochrome b561 family, member A2 605745 NA 11230685 Standard NM_024843 NM_001127383 NA Approved DCYTB, FLJ23462, FRRS3, CYB561A2 uc002ugy.4 Q53TN4 OTTHUMG00000132260 ENST00000321348.4:c.193+533G>A chr2.hg19:g.172379781G>A NA B2RE79|B4DWD7|Q6KC16|Q6KC17|Q6P147|Q6ZR51|Q9H0Q8|Q9H5G5 hg19 CCDS2244.1 0.02 16.651309 GCCxGAG COVERED 1454 0.6657509157509157 364 0.7398373983739838 227 0.6270718232044199 467 0.8164335664335665 396 0.5224274406332454 G 8.391 0.839713 0.16891 . . ENSG00000071967 ENST00000445146 T 0.46063 0.88 2.94 1.12 0.20585 . . . . . T 0.00012 0.0000 . . . 0.58432 P 5.000000000032756E-6 . . . . . . T 0.38222 -0.9671 5 0.05721 T 0.95 . 5.0004 0.14262 0.2895:0.0:0.7105:0.0 rs960749 . . . Q 12 ENSP00000402242:R12Q ENSP00000402242:R12Q R + 2 0 CYBRD1 172088027 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 0.165000 0.16564 0.289000 0.22422 0.563000 0.77884 CGG NOVEL CYBRD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255344.2 0 26.289762 KEEP 0 7 218 164 5567 GG 1 1 0 + 23 60 884 0 0 61.912489 349 60 12044 688 ENST00000321348.4 0.061828 1 CYBRD1 79901 __UNKNOWN__ __UNKNOWN__ 2 172398091 172398091 __UNKNOWN__ Intron SNP C C G rs62181678 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:172398091C>G ENST00000321348.4 + 2 391 CYBRD1_ENST00000468308.1_Intron|CYBRD1_ENST00000375252.3_Intron|CYBRD1_ENST00000409484.1_Intron NM_024843.3 NP_079119.3 Q53TN4 CYBR1_HUMAN cytochrome b reductase 1 NA NA cellular iron ion homeostasis (GO:0006879)|response to iron ion (GO:0010039)|transmembrane transport (GO:0055085) brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)|oxidoreductase activity, oxidizing metal ions (GO:0016722) endometrium(1)|kidney(1)|large_intestine(3)|liver(2)|lung(3) 10 TCGTCTTTCCCTAGCCATCAT 0.428 NA C||| 324 0.0646965 0.0068 0.0634 5008 , , NA 22041 0.0923 NA 0.1282 False NA ,,, NA NA NA 2504 0.0501 NA NA NA NA 0 GRCh37 CS042808 CYBRD1 S rs62181678 C , 93,4313 75.7+/-113.9 1,91,2111 121 114 116 , -9.3 0 2 dbSNP_129 116 992,7608 215.9+/-255.1 51,890,3359 no intron,intron CYBRD1 NM_001127383.1,NM_024843.3 , 52,981,5470 GG,GC,CC 11.5349,2.1108,8.3423 , , 172398091 1085,11921 2203 4300 6503 SO:0001627 intron_variant AK027115 CCDS2244.1, CCDS46449.1, CCDS58736.1 2q31 2013-03-14 ENSG00000071967 ENSG00000071967 79901 Cytochrome b genes 20797 protein-coding gene gene with protein product ferric-chelate reductase 3, cytochrome b561 family, member A2 605745 NA 11230685 Standard NM_024843 NM_001127383 NA Approved DCYTB, FLJ23462, FRRS3, CYB561A2 uc002ugy.4 Q53TN4 OTTHUMG00000132260 ENST00000321348.4:c.194-4C>G chr2.hg19:g.172398091C>G NA B2RE79|B4DWD7|Q6KC16|Q6KC17|Q6P147|Q6ZR51|Q9H0Q8|Q9H5G5 hg19 CCDS2244.1 0.02 4.308849 TCCxTAG COVERED NOVEL CYBRD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255344.2 0 10.232915 KEEP 0 0 0 34 1197 CC 0.999998 0.999998 0 + 13 60 420 0 0 29.730455 120 60 4411 194 ENST00000321348.4 0.097744 1 CYBRD1 79901 __UNKNOWN__ __UNKNOWN__ 2 172411273 172411273 __UNKNOWN__ Missense_Mutation SNP G G A rs10455 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:172411273G>A ENST00000321348.4 + 4 995 c.797G>A c.(796-798)aGt>aAt p.S266N CYBRD1_ENST00000375252.3_3'UTR|CYBRD1_ENST00000409484.1_Missense_Mutation_p.S208N NM_024843.3 NP_079119.3 Q53TN4 CYBR1_HUMAN cytochrome b reductase 1 266 NA S -> N (in dbSNP:rs10455). {ECO:0000269|PubMed:11230166, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.3, ECO:0000269|Ref.5}. cellular iron ion homeostasis (GO:0006879)|response to iron ion (GO:0010039)|transmembrane transport (GO:0055085) brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)|oxidoreductase activity, oxidizing metal ions (GO:0016722) endometrium(1)|kidney(1)|large_intestine(3)|liver(2)|lung(3) 10 GAGTTAAACAGTGAAGTAGCA 0.443 NA A||| 3421 0.683107 0.9327 0.6009 5008 , , NA 21456 0.3958 NA 0.666 False NA ,,, NA NA NA 2504 0.7178 NA NA NA NA 0 A ,ASN/SER 3875,531 239.9+/-250.9 1704,467,32 74 71 72 ,797 -3.3 0.3 2 dbSNP_52 72 5670,2930 458.4+/-364.6 1889,1892,519 yes utr-3,missense CYBRD1 NM_001127383.1,NM_024843.3 ,46 3593,2359,551 AA,AG,GG 34.0698,12.0517,26.6108 ,benign ,266/287 172411273 9545,3461 2203 4300 6503 SO:0001583 missense AK027115 CCDS2244.1, CCDS46449.1, CCDS58736.1 2q31 2013-03-14 ENSG00000071967 ENSG00000071967 79901 Cytochrome b genes 20797 protein-coding gene gene with protein product ferric-chelate reductase 3, cytochrome b561 family, member A2 605745 NA 11230685 Standard NM_024843 NM_001127383 NA Approved DCYTB, FLJ23462, FRRS3, CYB561A2 uc002ugy.4 Q53TN4 OTTHUMG00000132260 ENST00000321348.4:c.797G>A chr2.hg19:g.172411273G>A ENSP00000319141:p.Ser266Asn NA B2RE79|B4DWD7|Q6KC16|Q6KC17|Q6P147|Q6ZR51|Q9H0Q8|Q9H5G5 hg19 CCDS2244.1 0.02 18.205859 ACAxTGA COVERED 1417 0.6488095238095238 448 0.9105691056910569 233 0.643646408839779 215 0.3758741258741259 521 0.6873350923482849 A 5.162 0.215404 0.09810 0.879483 0.659302 ENSG00000071967 ENST00000409484;ENST00000321348 T;T 0.57595 0.39;0.4 5.16 -3.33 0.04958 . 0.669254 0.14511 N 0.315126 T 0.00012 0.0000 N 0.12961 0.28 0.29769 P 0.834894 B 0.02656 0.0 B 0.04013 0.001 T 0.45440 -0.9261 9 0.11794 T 0.64 0.0168 20.0263 0.97523 0.0846:0.0866:0.8288:0.0 rs10455;rs3172057;rs16859492;rs17846696;rs17859796;rs52827505;rs58982019;rs10455 266 Q53TN4 CYBR1_HUMAN N 208;266 ENSP00000386739:S208N;ENSP00000319141:S266N ENSP00000319141:S266N S + 2 0 CYBRD1 172119519 0.000000 0.05858 0.269000 0.24586 0.822000 0.46500 -1.717000 0.01876 -1.628000 0.01548 -0.972000 0.02603 AGT NOVEL CYBRD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255344.2 0 3.85188 KEEP 0 4 120 55 1999 GG 1 1 0 + 26 60 977 0 0 67.118866 418 60 15858 586 ENST00000321348.4 0.058559 1 CYBRD1 79901 __UNKNOWN__ __UNKNOWN__ 2 172411644 172411644 __UNKNOWN__ 3'UTR SNP C C T rs1060248 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:172411644C>T ENST00000321348.4 + 0 1366 CYBRD1_ENST00000375252.3_3'UTR|CYBRD1_ENST00000409484.1_3'UTR NM_024843.3 NP_079119.3 Q53TN4 CYBR1_HUMAN cytochrome b reductase 1 NA NA cellular iron ion homeostasis (GO:0006879)|response to iron ion (GO:0010039)|transmembrane transport (GO:0055085) brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)|oxidoreductase activity, oxidizing metal ions (GO:0016722) endometrium(1)|kidney(1)|large_intestine(3)|liver(2)|lung(3) 10 TATGTGTCTACTAGTAGTTAA 0.403 NA C||| 560 0.111821 0.0446 0.0735 5008 , , NA 19956 0.1458 NA 0.1531 False NA ,,, NA NA NA 2504 0.1524 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK027115 CCDS2244.1, CCDS46449.1, CCDS58736.1 2q31 2013-03-14 ENSG00000071967 ENSG00000071967 79901 Cytochrome b genes 20797 protein-coding gene gene with protein product ferric-chelate reductase 3, cytochrome b561 family, member A2 605745 NA 11230685 Standard NM_024843 NM_001127383 NA Approved DCYTB, FLJ23462, FRRS3, CYB561A2 uc002ugy.4 Q53TN4 OTTHUMG00000132260 ENST00000321348.4:c.*307C>T chr2.hg19:g.172411644C>T NA B2RE79|B4DWD7|Q6KC16|Q6KC17|Q6P147|Q6ZR51|Q9H0Q8|Q9H5G5 hg19 CCDS2244.1 0.02 6.686647 CTAxTAG COVERED NOVEL CYBRD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255344.2 1 6.153792 KEEP 0 1 24 29 1052 CC 0.999997 0.999997 0 + 12 60 393 0 0 26.796328 145 60 5528 217 ENST00000321348.4 0.076433 1 CYBRD1 79901 __UNKNOWN__ __UNKNOWN__ 2 172411737 172411737 __UNKNOWN__ 3'UTR SNP C C A rs950163 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:172411737C>A ENST00000321348.4 + 0 1459 CYBRD1_ENST00000375252.3_3'UTR|CYBRD1_ENST00000409484.1_3'UTR NM_024843.3 NP_079119.3 Q53TN4 CYBR1_HUMAN cytochrome b reductase 1 NA NA cellular iron ion homeostasis (GO:0006879)|response to iron ion (GO:0010039)|transmembrane transport (GO:0055085) brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)|oxidoreductase activity, oxidizing metal ions (GO:0016722) endometrium(1)|kidney(1)|large_intestine(3)|liver(2)|lung(3) 10 TCACAACTAGCGGGAAGCAGT 0.398 NA A||| 3255 0.64996 0.8147 0.585 5008 , , NA 19947 0.3958 NA 0.667 False NA ,,, NA NA NA 2504 0.7178 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK027115 CCDS2244.1, CCDS46449.1, CCDS58736.1 2q31 2013-03-14 ENSG00000071967 ENSG00000071967 79901 Cytochrome b genes 20797 protein-coding gene gene with protein product ferric-chelate reductase 3, cytochrome b561 family, member A2 605745 NA 11230685 Standard NM_024843 NM_001127383 NA Approved DCYTB, FLJ23462, FRRS3, CYB561A2 uc002ugy.4 Q53TN4 OTTHUMG00000132260 ENST00000321348.4:c.*400C>A chr2.hg19:g.172411737C>A NA B2RE79|B4DWD7|Q6KC16|Q6KC17|Q6P147|Q6ZR51|Q9H0Q8|Q9H5G5 hg19 CCDS2244.1 0.02 4.461406 TAGxGGG COVERED NOVEL CYBRD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255344.2 1 3.580942 KEEP 0 2 66 35 1178 CC 1 0.999999 0 + 12 60 435 0 0 31.978103 115 60 3967 184 ENST00000321348.4 0.094488 1 CYBRD1 79901 __UNKNOWN__ __UNKNOWN__ 2 172413018 172413018 __UNKNOWN__ 3'UTR SNP A A G rs2542939 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:172413018A>G ENST00000321348.4 + 0 2740 CYBRD1_ENST00000375252.3_3'UTR NM_024843.3 NP_079119.3 Q53TN4 CYBR1_HUMAN cytochrome b reductase 1 NA NA cellular iron ion homeostasis (GO:0006879)|response to iron ion (GO:0010039)|transmembrane transport (GO:0055085) brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)|oxidoreductase activity, oxidizing metal ions (GO:0016722) endometrium(1)|kidney(1)|large_intestine(3)|liver(2)|lung(3) 10 GCATTTTAATATGGGTAGAAA 0.323 NA G||| 3222 0.643371 0.8048 0.5793 5008 , , NA 20110 0.381 NA 0.667 False NA ,,, NA NA NA 2504 0.7168 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK027115 CCDS2244.1, CCDS46449.1, CCDS58736.1 2q31 2013-03-14 ENSG00000071967 ENSG00000071967 79901 Cytochrome b genes 20797 protein-coding gene gene with protein product ferric-chelate reductase 3, cytochrome b561 family, member A2 605745 NA 11230685 Standard NM_024843 NM_001127383 NA Approved DCYTB, FLJ23462, FRRS3, CYB561A2 uc002ugy.4 Q53TN4 OTTHUMG00000132260 ENST00000321348.4:c.*1681A>G chr2.hg19:g.172413018A>G NA B2RE79|B4DWD7|Q6KC16|Q6KC17|Q6P147|Q6ZR51|Q9H0Q8|Q9H5G5 hg19 CCDS2244.1 0.02 8.668704 AATxTGG COVERED NOVEL CYBRD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255344.2 3 8.858963 KEEP 0 1 36 42 1266 AA 1 1 0 + 14 60 513 0 0 35.187695 212 60 7666 305 ENST00000321348.4 0.061947 1 CYBRD1 79901 __UNKNOWN__ __UNKNOWN__ 2 172414102 172414102 __UNKNOWN__ 3'UTR SNP G G A rs72884394 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:172414102G>A ENST00000321348.4 + 0 3824 CYBRD1_ENST00000375252.3_3'UTR NM_024843.3 NP_079119.3 Q53TN4 CYBR1_HUMAN cytochrome b reductase 1 NA NA cellular iron ion homeostasis (GO:0006879)|response to iron ion (GO:0010039)|transmembrane transport (GO:0055085) brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)|oxidoreductase activity, oxidizing metal ions (GO:0016722) endometrium(1)|kidney(1)|large_intestine(3)|liver(2)|lung(3) 10 CTTTACTTGCGTGGTTTCATG 0.388 NA G||| 561 0.112021 0.0446 0.0749 5008 , , NA 20255 0.1458 NA 0.1551 False NA ,,, NA NA NA 2504 0.1503 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK027115 CCDS2244.1, CCDS46449.1, CCDS58736.1 2q31 2013-03-14 ENSG00000071967 ENSG00000071967 79901 Cytochrome b genes 20797 protein-coding gene gene with protein product ferric-chelate reductase 3, cytochrome b561 family, member A2 605745 NA 11230685 Standard NM_024843 NM_001127383 NA Approved DCYTB, FLJ23462, FRRS3, CYB561A2 uc002ugy.4 Q53TN4 OTTHUMG00000132260 ENST00000321348.4:c.*2765G>A chr2.hg19:g.172414102G>A NA B2RE79|B4DWD7|Q6KC16|Q6KC17|Q6P147|Q6ZR51|Q9H0Q8|Q9H5G5 hg19 CCDS2244.1 0.02 6.64554 TGCxTGG COVERED NOVEL CYBRD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255344.2 1 4.483456 KEEP 0 2 69 39 1282 GG 1 1 0 + 9 60 339 0 0 22.83907 164 60 5679 244 ENST00000321348.4 0.052023 1 DYNC1I2 1781 __UNKNOWN__ __UNKNOWN__ 2 172563922 172563922 __UNKNOWN__ Intron SNP G G A rs312925 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:172563922G>A ENST00000340296.4 + 4 545 DYNC1I2_ENST00000358002.6_Intron|AC068039.1_ENST00000598148.1_Intron|DYNC1I2_ENST00000410079.3_Intron|DYNC1I2_ENST00000409197.1_Intron|DYNC1I2_ENST00000409453.1_Intron|DYNC1I2_ENST00000263811.4_Intron|DYNC1I2_ENST00000508530.1_Intron|DYNC1I2_ENST00000534253.2_Intron|DYNC1I2_ENST00000409773.1_Intron|DYNC1I2_ENST00000397119.3_Intron|DYNC1I2_ENST00000409317.1_Intron NM_001271788.1|NM_001271790.1 NP_001258717.1|NP_001258719.1 Q13409 DC1I2_HUMAN dynein, cytoplasmic 1, intermediate chain 2 NA NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|G2/M transition of mitotic cell cycle (GO:0000086)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|transport (GO:0006810)|viral process (GO:0016032) centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|microtubule (GO:0005874)|vesicle (GO:0031982) microtubule motor activity (GO:0003777) breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1) 15 OV - Ovarian serous cystadenocarcinoma(117;0.198) TTTAATGATAGAATGCATTCA 0.378 NA G||| 1337 0.266973 0.4024 0.2363 5008 , , NA 14526 0.2034 NA 0.2724 False NA ,,, NA NA NA 2504 0.1656 NA NA NA NA 0 G 1374,2618 237,900,859 46 50 49 4.1 1 2 dbSNP_79 49 2318,6070 319,1680,2195 no intron DYNC1I2 NM_001378.1 556,2580,3054 AA,AG,GG 27.6347,34.4188,29.8223 172563922 3692,8688 1996 4194 6190 SO:0001627 intron_variant AK055491 CCDS46450.1, CCDS63054.1, CCDS63056.1, CCDS63057.1 2q31.1 2013-01-10 2005-11-24 2005-11-24 ENSG00000077380 ENSG00000077380 1781 Cytoplasmic dyneins, WD repeat domain containing 2964 protein-coding gene gene with protein product 603331 dynein, cytoplasmic, intermediate polypeptide 2 DNCI2 NA 10049579, 16260502 Standard NM_001378 NM_001378 NA Approved uc002uha.2 Q13409 OTTHUMG00000154061 ENST00000340296.4:c.317+35G>A chr2.hg19:g.172563922G>A NA B7ZA04|D3DPD4|D3DPD5|D3DPD6|Q32LY9|Q53S84|Q5BJF8|Q7Z4X1|Q96NG7|Q96S87|Q9BXZ5|Q9NT58 hg19 0.02 6.716794 ATAxAAT COVERED NOVEL DYNC1I2-002 KNOWN alternative_5_UTR|basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000334613.1 0 15.048922 KEEP 0 0 0 50 1782 GG 1 1 0 + 14 60 512 0 0 35.886336 185 60 7088 307 ENST00000340296.4 0.070352 1 SLC25A12 8604 __UNKNOWN__ __UNKNOWN__ 2 172641045 172641045 __UNKNOWN__ 3'UTR SNP C C G rs11757 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:172641045C>G ENST00000422440.2 - 0 2813 NM_003705.4 NP_003696.2 O75746 CMC1_HUMAN solute carrier family 25 (aspartate/glutamate carrier), member 12 NA NA aspartate transport (GO:0015810)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281) integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739) calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(117;0.216) L-Aspartic Acid(DB00128) CATATGCACACTGACAGGCGA 0.423 NA C||| 1345 0.26857 0.4017 0.2363 5008 , , NA 20646 0.2024 NA 0.2744 False NA ,,, NA NA NA 2504 0.1738 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Y14494 CCDS33327.1 2q24 2013-05-22 2012-03-29 ENSG00000115840 ENSG00000115840 8604 Solute carriers, EF-hand domain containing 10982 protein-coding gene gene with protein product 603667 solute carrier family 25 (mitochondrial carrier, Aralar), member 12 NA 9722566, 10702666, 11566871 Standard NM_003705 NM_003705 NA Approved Aralar uc002uhh.3 O75746 OTTHUMG00000134290 ENST00000422440.2:c.*739G>C chr2.hg19:g.172641045C>G NA B3KR64|Q96AM8 hg19 CCDS33327.1 0.02 6.68919 ACAxTGA COVERED NOVEL SLC25A12-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000259010.2 0 6.320429 KEEP 0 0 0 21 737 CC 0.999869 0.999869 0 - 16 60 599 0 0 44.591582 152 60 5771 207 ENST00000422440.2 0.095238 1 DLX2 1746 __UNKNOWN__ __UNKNOWN__ 2 172965038 172965038 __UNKNOWN__ 3'UTR SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:172965038C>T ENST00000234198.4 - 0 1581 NM_004405.3 NP_004396.1 Q07687 DLX2_HUMAN distal-less homeobox 2 NA NA brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|cartilage development (GO:0051216)|cerebral cortex GABAergic interneuron fate commitment (GO:0021893)|embryonic cranial skeleton morphogenesis (GO:0048701)|hippocampus development (GO:0021766)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb development (GO:0021772)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|subpallium development (GO:0021544) nucleus (GO:0005634) chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded RNA binding (GO:0003727) endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(117;0.216) GGGCTCAGGTCAGAAATGCGG 0.687 NA NA NA NA NA NA NA NA NA NA GBM(188;775 2993 11256 23072) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U51003 CCDS2248.1 2q31.1 2011-06-20 2005-12-22 ENSG00000115844 ENSG00000115844 1746 Homeoboxes / ANTP class : NKL subclass 2915 protein-coding gene gene with protein product 126255 distal-less homeo box 2 NA 1354641 Standard NM_004405 NA Approved TES-1 uc002uhn.3 Q07687 OTTHUMG00000132276 ENST00000234198.4:c.*233G>A chr2.hg19:g.172965038C>T NA B4DMK4|B7ZA14 hg19 CCDS2248.1 0.02 4.130181 GGTxAGA COVERED NOVEL DLX2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255368.3 2 24.674123 KEEP 0 0 0 82 2796 CC 1 1 0 - 6 60 224 0 0 14.47252 136 60 4952 300 ENST00000234198.4 0.042254 1 ITGA6 3655 __UNKNOWN__ __UNKNOWN__ 2 173340209 173340209 __UNKNOWN__ Intron SNP A A C rs55867175 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:173340209A>C ENST00000264107.7 + 8 1414 ITGA6_ENST00000409532.1_Intron|ITGA6_ENST00000375221.2_Intron|ITGA6_ENST00000343713.4_Intron|ITGA6_ENST00000264106.6_Intron|ITGA6_ENST00000409080.1_Intron NM_000210.2 NP_000201.2 P23229 ITA6_HUMAN integrin, alpha 6 NA NA amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588) basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886) metal ion binding (GO:0046872) NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 44 OV - Ovarian serous cystadenocarcinoma(117;0.0979) acaaaaaaaaaCCCCGAAAAA 0.398 NA A||| 431 0.0860623 0.0015 0.062 5008 , , NA 17067 0.2579 NA 0.0348 False NA ,,, NA NA NA 2504 0.093 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS2249.1, CCDS46451.1 2q31.1 2010-09-20 ENSG00000091409 ENSG00000091409 3655 CD molecules, Integrins 6142 protein-coding gene gene with protein product 147556 NA Standard NM_001079818 NA Approved CD49f uc002uhp.1 P23229 OTTHUMG00000132277 ENST00000264107.7:c.1181-116A>C chr2.hg19:g.173340209A>C NA B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03 hg19 CCDS2249.1 0.02 -0.245639 AAAxCCC COVERED NOVEL ITGA6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255369.2 3 5.713911 KEEP 0 0 0 19 565 AA 0.99986 0.641257 0 + 4 60 140 0 0 10.922501 24 60 847 52 ENST00000264107.7 0.142857 0.641347 ITGA6 3655 __UNKNOWN__ __UNKNOWN__ 2 173344474 173344474 __UNKNOWN__ Intron SNP A A G rs1920979 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:173344474A>G ENST00000264107.7 + 10 1721 ITGA6_ENST00000409532.1_Intron|ITGA6_ENST00000375221.2_Intron|ITGA6_ENST00000343713.4_Intron|ITGA6_ENST00000264106.6_Intron|ITGA6_ENST00000409080.1_Intron NM_000210.2 NP_000201.2 P23229 ITA6_HUMAN integrin, alpha 6 NA NA amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588) basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886) metal ion binding (GO:0046872) NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 44 OV - Ovarian serous cystadenocarcinoma(117;0.0979) TATGGTGAGCATCCCTCTGTC 0.522 NA G||| 2039 0.407149 0.5287 0.317 5008 , , NA 16966 0.3512 NA 0.3111 False NA ,,, NA NA NA 2504 0.4632 NA NA NA NA 0 G , 2287,2119 576.8+/-384.3 582,1123,498 86 90 88 , -0.4 0 2 dbSNP_92 88 3021,5579 663.5+/-402.1 504,2013,1783 no intron,intron ITGA6 NM_000210.2,NM_001079818.1 , 1086,3136,2281 GG,GA,AA 35.1279,48.0935,40.8119 , , 173344474 5308,7698 2203 4300 6503 SO:0001627 intron_variant CCDS2249.1, CCDS46451.1 2q31.1 2010-09-20 ENSG00000091409 ENSG00000091409 3655 CD molecules, Integrins 6142 protein-coding gene gene with protein product 147556 NA Standard NM_001079818 NA Approved CD49f uc002uhp.1 P23229 OTTHUMG00000132277 ENST00000264107.7:c.1487+7A>G chr2.hg19:g.173344474A>G NA B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03 hg19 CCDS2249.1 0.02 1.910415 AGCxTCC COVERED NOVEL ITGA6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255369.2 3 13.838273 KEEP 0 0 0 46 1369 AA 1 0.999962 0 + 7 60 248 0 0 17.12886 93 60 3350 177 ENST00000264107.7 0.07 0.999962 ITGA6 3655 __UNKNOWN__ __UNKNOWN__ 2 173344680 173344680 __UNKNOWN__ Intron SNP A A C rs2293647 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:173344680A>C ENST00000264107.7 + 11 1721 ITGA6_ENST00000409532.1_Intron|ITGA6_ENST00000375221.2_Intron|ITGA6_ENST00000343713.4_Intron|ITGA6_ENST00000264106.6_Intron|ITGA6_ENST00000409080.1_Intron NM_000210.2 NP_000201.2 P23229 ITA6_HUMAN integrin, alpha 6 NA NA amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588) basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886) metal ion binding (GO:0046872) NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 44 OV - Ovarian serous cystadenocarcinoma(117;0.0979) CACTGCAATAATGGATCTTTT 0.383 NA A||| 368 0.0734824 0.0015 0.0375 5008 , , NA 20166 0.2202 NA 0.0368 False NA ,,, NA NA NA 2504 0.0828 NA NA NA NA 0 A , 51,4355 50.9+/-86.3 0,51,2152 115 114 114 , 3.2 0 2 dbSNP_100 114 478,8120 136.8+/-193.9 9,460,3830 no intron,intron ITGA6 NM_000210.2,NM_001079818.1 , 9,511,5982 CC,CA,AA 5.5594,1.1575,4.068 , , 173344680 529,12475 2203 4299 6502 SO:0001627 intron_variant CCDS2249.1, CCDS46451.1 2q31.1 2010-09-20 ENSG00000091409 ENSG00000091409 3655 CD molecules, Integrins 6142 protein-coding gene gene with protein product 147556 NA Standard NM_001079818 NA Approved CD49f uc002uhp.1 P23229 OTTHUMG00000132277 ENST00000264107.7:c.1488-38A>C chr2.hg19:g.173344680A>C NA B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03 hg19 CCDS2249.1 0.02 9.716238 ATAxTGG COVERED NOVEL ITGA6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255369.2 3 19.858552 KEEP 0 0 0 66 2041 AA 1 1 0 + 12 60 466 0 0 32.378624 197 60 7278 347 ENST00000264107.7 0.057416 1 ITGA6 3655 __UNKNOWN__ __UNKNOWN__ 2 173352157 173352157 __UNKNOWN__ Silent SNP A A T rs2293648 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:173352157A>T ENST00000264107.7 + 15 2370 c.2136A>T c.(2134-2136)gcA>gcT p.A712A ITGA6_ENST00000409532.1_Silent_p.A593A|AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000375221.2_Silent_p.A751A|ITGA6_ENST00000343713.4_Silent_p.A707A|ITGA6_ENST00000264106.6_Silent_p.A751A|ITGA6_ENST00000409080.1_Silent_p.A712A NM_000210.2 NP_000201.2 P23229 ITA6_HUMAN integrin, alpha 6 751 NA amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588) basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886) metal ion binding (GO:0046872) NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 44 OV - Ovarian serous cystadenocarcinoma(117;0.0979) CCTATTCTGCATATAGAGAAC 0.458 NA A||| 436 0.0870607 0.0015 0.062 5008 , , NA 19898 0.2599 NA 0.0368 False NA ,,, NA NA NA 2504 0.0941 NA NA NA NA 0 A , 54,4352 52.9+/-88.7 0,54,2149 75 78 77 2136,2136 -11 0 2 dbSNP_100 77 479,8121 139.2+/-195.9 11,457,3832 no coding-synonymous,coding-synonymous ITGA6 NM_000210.2,NM_001079818.1 , 11,511,5981 TT,TA,AA 5.5698,1.2256,4.0981 , 712/1074,712/1092 173352157 533,12473 2203 4300 6503 SO:0001819 synonymous_variant CCDS2249.1, CCDS46451.1 2q31.1 2010-09-20 ENSG00000091409 ENSG00000091409 3655 CD molecules, Integrins 6142 protein-coding gene gene with protein product 147556 NA Standard NM_001079818 NA Approved CD49f uc002uhp.1 P23229 OTTHUMG00000132277 ENST00000264107.7:c.2136A>T chr2.hg19:g.173352157A>T NA B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03 hg19 CCDS2249.1 0.02 23.885106 TGCxTAT COVERED NOVEL ITGA6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255369.2 3 22.567099 KEEP 0 0 0 75 2348 AA 1 1 0 + 43 60 1588 0 0 113.953849 503 60 18561 724 ENST00000264107.7 0.078755 1 ITGA6 3655 __UNKNOWN__ __UNKNOWN__ 2 173352824 173352824 __UNKNOWN__ Intron SNP C C T rs10930559 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:173352824C>T ENST00000264107.7 + 19 2636 ITGA6_ENST00000409532.1_Intron|AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000375221.2_Intron|ITGA6_ENST00000343713.4_Intron|ITGA6_ENST00000264106.6_Intron|ITGA6_ENST00000409080.1_Intron NM_000210.2 NP_000201.2 P23229 ITA6_HUMAN integrin, alpha 6 NA NA amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588) basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886) metal ion binding (GO:0046872) NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 44 OV - Ovarian serous cystadenocarcinoma(117;0.0979) TTACAATCCTCATTAAAACTG 0.368 NA C||| 445 0.0888578 0.0091 0.0634 5008 , , NA 20253 0.2599 NA 0.0348 False NA ,,, NA NA NA 2504 0.0941 NA NA NA NA 0 C , 63,4343 58.1+/-94.6 0,63,2140 130 130 130 , 0.2 1 2 dbSNP_120 130 479,8121 140.5+/-197.0 11,457,3832 no intron,intron ITGA6 NM_000210.2,NM_001079818.1 , 11,520,5972 TT,TC,CC 5.5698,1.4299,4.1673 , , 173352824 542,12464 2203 4300 6503 SO:0001627 intron_variant CCDS2249.1, CCDS46451.1 2q31.1 2010-09-20 ENSG00000091409 ENSG00000091409 3655 CD molecules, Integrins 6142 protein-coding gene gene with protein product 147556 NA Standard NM_001079818 NA Approved CD49f uc002uhp.1 P23229 OTTHUMG00000132277 ENST00000264107.7:c.2403-30C>T chr2.hg19:g.173352824C>T NA B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03 hg19 CCDS2249.1 0.02 9.214399 CCTxATT COVERED NOVEL ITGA6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255369.2 3 15.650507 KEEP 0 0 0 52 1808 CC 1 1 0 + 10 60 337 0 0 19.825908 267 60 10119 373 ENST00000264107.7 0.036101 1 RAPGEF4 11069 __UNKNOWN__ __UNKNOWN__ 2 173662354 173662354 __UNKNOWN__ Intron SNP A A G rs6433382 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:173662354A>G ENST00000397081.3 + 3 440 RAPGEF4_ENST00000409036.1_Intron|RAPGEF4_ENST00000264111.6_Intron NM_007023.3 NP_008954.2 Q8WZA2 RPGF4_HUMAN Rap guanine nucleotide exchange factor (GEF) 4 NA NA blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281) cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886) cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088) breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 OV - Ovarian serous cystadenocarcinoma(117;0.194) AATATGGTCTATTTTTTTGAA 0.358 NA A||| 1956 0.390575 0.4175 0.3545 5008 , , NA 18131 0.4405 NA 0.2962 False NA ,,, NA NA NA 2504 0.4254 NA NA NA NA 0 A 1506,2128 317,872,628 65 61 62 -6.9 0 2 dbSNP_116 62 2508,5634 375,1758,1938 no intron RAPGEF4 NM_007023.3 692,2630,2566 GG,GA,AA 30.8032,41.4419,34.0863 173662354 4014,7762 1817 4071 5888 SO:0001627 intron_variant U78516 CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1 2q31-q32 2008-02-05 2004-03-26 ENSG00000091428 ENSG00000091428 11069 16626 protein-coding gene gene with protein product cAMP-regulated guanine nucleotide exchange factor II, exchange protein directly activated by cAMP 2 606058 RAP guanine-nucleotide-exchange factor (GEF) 4 NA 10777494, 9856955 Standard NM_007023 NM_007023 NA Approved cAMP-GEFII, CGEF2 uc002uhv.4 Q8WZA2 OTTHUMG00000133677 ENST00000397081.3:c.297+13A>G chr2.hg19:g.173662354A>G NA B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4 hg19 CCDS42775.1 0.02 2.129604 TCTxTTT COVERED NOVEL RAPGEF4-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000257864.2 0 3.911823 KEEP 0 0 0 13 407 AA 0.994391 0.992864 0 + 5 60 190 0 0 13.40922 70 60 2592 110 ENST00000397081.3 0.066667 0.998465 RAPGEF4 11069 __UNKNOWN__ __UNKNOWN__ 2 173686663 173686663 __UNKNOWN__ Intron SNP G G T rs2258180 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:173686663G>T ENST00000397081.3 + 4 587 RAPGEF4_ENST00000409036.1_Intron|RAPGEF4_ENST00000264111.6_Intron|RAPGEF4_ENST00000397087.3_5'UTR NM_007023.3 NP_008954.2 Q8WZA2 RPGF4_HUMAN Rap guanine nucleotide exchange factor (GEF) 4 NA NA blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281) cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886) cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088) breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 OV - Ovarian serous cystadenocarcinoma(117;0.194) GGATGTCTGAGAACTTTGAGA 0.418 NA G||| 2639 0.526957 0.5045 0.5115 5008 , , NA 19475 0.5913 NA 0.4891 False NA ,,, NA NA NA 2504 0.5409 NA NA NA NA 0 G , 2063,1771 555,953,409 137 132 133 , 4 0.9 2 dbSNP_100 133 4172,4094 1038,2096,999 no utr-5,intron RAPGEF4 NM_001100397.1,NM_007023.3 , 1593,3049,1408 TT,TG,GG 49.5282,46.192,48.4711 , , 173686663 6235,5865 1917 4133 6050 SO:0001627 intron_variant U78516 CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1 2q31-q32 2008-02-05 2004-03-26 ENSG00000091428 ENSG00000091428 11069 16626 protein-coding gene gene with protein product cAMP-regulated guanine nucleotide exchange factor II, exchange protein directly activated by cAMP 2 606058 RAP guanine-nucleotide-exchange factor (GEF) 4 NA 10777494, 9856955 Standard NM_007023 NM_007023 NA Approved cAMP-GEFII, CGEF2 uc002uhv.4 Q8WZA2 OTTHUMG00000133677 ENST00000397081.3:c.444+7510G>T chr2.hg19:g.173686663G>T NA B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4 hg19 CCDS42775.1 0.02 36.101844 TGAxAAC COVERED NOVEL RAPGEF4-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000257864.2 4 31.301829 KEEP 0 0 0 104 3698 GG 1 1 0 + 58 60 2086 0 0 145.399927 763 60 29261 1108 ENST00000397081.3 0.070646 1 RAPGEF4 11069 __UNKNOWN__ __UNKNOWN__ 2 173686798 173686798 __UNKNOWN__ Intron SNP A A G rs2258175 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:173686798A>G ENST00000397081.3 + 4 587 RAPGEF4_ENST00000409036.1_Intron|RAPGEF4_ENST00000264111.6_Intron|RAPGEF4_ENST00000397087.3_Intron NM_007023.3 NP_008954.2 Q8WZA2 RPGF4_HUMAN Rap guanine nucleotide exchange factor (GEF) 4 NA NA blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281) cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886) cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088) breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 OV - Ovarian serous cystadenocarcinoma(117;0.194) GCTCAAAAACATCTCTGGCTT 0.393 NA A||| 2459 0.491014 0.4402 0.4813 5008 , , NA 19046 0.5605 NA 0.4742 False NA ,,, NA NA NA 2504 0.5123 NA NA NA NA 0 A , 624,760 132,360,200 70 64 66 , 3.6 0.8 2 dbSNP_100 66 1494,1688 359,776,456 yes intron,intron RAPGEF4 NM_001100397.1,NM_007023.3 , 491,1136,656 GG,GA,AA 46.9516,45.0867,46.3863 , , 173686798 2118,2448 692 1591 2283 SO:0001627 intron_variant U78516 CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1 2q31-q32 2008-02-05 2004-03-26 ENSG00000091428 ENSG00000091428 11069 16626 protein-coding gene gene with protein product cAMP-regulated guanine nucleotide exchange factor II, exchange protein directly activated by cAMP 2 606058 RAP guanine-nucleotide-exchange factor (GEF) 4 NA 10777494, 9856955 Standard NM_007023 NM_007023 NA Approved cAMP-GEFII, CGEF2 uc002uhv.4 Q8WZA2 OTTHUMG00000133677 ENST00000397081.3:c.444+7645A>G chr2.hg19:g.173686798A>G NA B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4 hg19 CCDS42775.1 0.02 9.168142 AACxTCT COVERED NOVEL RAPGEF4-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000257864.2 0 5.113205 KEEP 0 0 0 17 489 AA 0.999366 0.999366 0 + 13 60 488 0 0 33.407832 213 60 7630 245 ENST00000397081.3 0.057522 1 RAPGEF4 11069 __UNKNOWN__ __UNKNOWN__ 2 173866203 173866203 __UNKNOWN__ Intron SNP C C T rs2028934 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:173866203C>T ENST00000397081.3 + 17 1801 RAPGEF4_ENST00000409036.1_Intron|RAPGEF4_ENST00000535187.1_Intron|RAPGEF4_ENST00000264111.6_Intron|RAPGEF4_ENST00000539331.1_Intron|RAPGEF4_ENST00000538974.1_Intron|RAPGEF4_ENST00000540783.1_Intron|RAPGEF4_ENST00000397087.3_Intron NM_007023.3 NP_008954.2 Q8WZA2 RPGF4_HUMAN Rap guanine nucleotide exchange factor (GEF) 4 NA NA blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281) cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886) cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088) breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 OV - Ovarian serous cystadenocarcinoma(117;0.194) CCTCATCACACTGAAATGTGT 0.507 NA c||| 3272 0.653355 0.4629 0.6354 5008 , , NA 17538 0.9087 NA 0.7247 False NA ,,, NA NA NA 2504 0.5869 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U78516 CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1 2q31-q32 2008-02-05 2004-03-26 ENSG00000091428 ENSG00000091428 11069 16626 protein-coding gene gene with protein product cAMP-regulated guanine nucleotide exchange factor II, exchange protein directly activated by cAMP 2 606058 RAP guanine-nucleotide-exchange factor (GEF) 4 NA 10777494, 9856955 Standard NM_007023 NM_007023 NA Approved cAMP-GEFII, CGEF2 uc002uhv.4 Q8WZA2 OTTHUMG00000133677 ENST00000397081.3:c.1658+131C>T chr2.hg19:g.173866203C>T NA B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4 hg19 CCDS42775.1 0.02 6.720979 ACAxTGA COVERED NOVEL RAPGEF4-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000257864.2 1 7.222814 KEEP 0 0 0 24 827 CC 0.999909 0.999909 0 + 20 60 715 0 0 55.281458 133 60 5039 180 ENST00000397081.3 0.130719 1 RAPGEF4 11069 __UNKNOWN__ __UNKNOWN__ 2 173883549 173883549 __UNKNOWN__ Intron SNP A A G rs2242079 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:173883549A>G ENST00000397081.3 + 22 2298 RAPGEF4_ENST00000409036.1_Intron|RAPGEF4_ENST00000535187.1_Intron|RAPGEF4_ENST00000264111.6_Intron|RAPGEF4_ENST00000539331.1_Intron|RAPGEF4_ENST00000538974.1_Intron|RAPGEF4_ENST00000540783.1_Intron|RAPGEF4_ENST00000397087.3_Intron NM_007023.3 NP_008954.2 Q8WZA2 RPGF4_HUMAN Rap guanine nucleotide exchange factor (GEF) 4 NA NA blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281) cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886) cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088) breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 OV - Ovarian serous cystadenocarcinoma(117;0.194) CTTAATTCATATTTTAGGCTC 0.488 NA A||| 303 0.0605032 0.0023 0.1081 5008 , , NA 19554 0.1141 NA 0.0676 False NA ,,, NA NA NA 2504 0.0429 NA NA NA NA 0 A , 69,4335 61.1+/-98.1 0,69,2133 66 73 71 , -0.4 0 2 dbSNP_98 71 601,7999 157.3+/-211.0 16,569,3715 no intron,intron RAPGEF4 NM_001100397.1,NM_007023.3 , 16,638,5848 GG,GA,AA 6.9884,1.5668,5.1523 , , 173883549 670,12334 2202 4300 6502 SO:0001627 intron_variant U78516 CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1 2q31-q32 2008-02-05 2004-03-26 ENSG00000091428 ENSG00000091428 11069 16626 protein-coding gene gene with protein product cAMP-regulated guanine nucleotide exchange factor II, exchange protein directly activated by cAMP 2 606058 RAP guanine-nucleotide-exchange factor (GEF) 4 NA 10777494, 9856955 Standard NM_007023 NM_007023 NA Approved cAMP-GEFII, CGEF2 uc002uhv.4 Q8WZA2 OTTHUMG00000133677 ENST00000397081.3:c.2155+19A>G chr2.hg19:g.173883549A>G NA B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4 hg19 CCDS42775.1 0.02 3.974097 CATxTTT COVERED NOVEL RAPGEF4-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000257864.2 1 7.822845 KEEP 0 0 0 26 791 AA 0.999957 0.999957 0 + 6 60 220 0 0 14.167541 131 60 4815 187 ENST00000397081.3 0.043796 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 173917659 173917659 __UNKNOWN__ IGR SNP G G A rs12464956 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:173917659G>A NA NA RAPGEF4 (38 upstream) : AC019046.1 (8800 downstream) NA NA NA TATGAAAGGGGTAACCATTTG 0.299 NA A||| 1742 0.347843 0.2443 0.3069 5008 , , NA 17682 0.6438 NA 0.2366 False NA ,,, NA NA NA 2504 0.3262 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.173917659G>A NA hg19 0.02 -0.307068 GGGxTAA COVERED NOVEL 0 0 4.213369 KEEP 0 0 0 14 486 GG 0.995343 0.796519 0 6 60 223 0 0 18.199271 29 60 1093 55 0.171429 0.800245 MLTK 0 __UNKNOWN__ __UNKNOWN__ 2 174082100 174082100 __UNKNOWN__ Intron SNP C C G rs2289395 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:174082100C>G ENST00000375213.3 + 11 1065 MLTK_ENST00000431503.2_Intron|MLTK_ENST00000409176.2_Intron|MLTK_ENST00000338983.3_Intron|MLK7-AS1_ENST00000423106.2_RNA|MLK7-AS1_ENST00000422703.1_RNA|MLTK_ENST00000539448.1_Intron NM_016653.2 NP_057737.2 Q9NYL2 MLTK_HUMAN NA NA activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell death (GO:0008219)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|DNA damage checkpoint (GO:0000077)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|response to radiation (GO:0009314)|response to stress (GO:0006950) cytoplasm (GO:0005737)|nucleus (GO:0005634) ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674) NA TGCCTCGCGCCCGTGTATTAA 0.527 NA C||| 792 0.158147 0.0703 0.0951 5008 , , NA 15015 0.5734 NA 0.0239 False NA ,,, NA NA NA 2504 0.0317 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000375213.3:c.987+122C>G chr2.hg19:g.174082100C>G NA B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9 hg19 CCDS42777.1 0.02 -0.184234 CGCxCGT COVERED NOVEL MLTK-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255401.1 0 3.009636 KEEP 0 0 0 10 353 CC 0.992708 0.42039 0 + 2 70 83 0 0 6.386242 19 60 678 37 ENST00000375213.3 0.095238 0.423478 MLTK 0 __UNKNOWN__ __UNKNOWN__ 2 174089112 174089112 __UNKNOWN__ Intron SNP T T C rs4146109 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:174089112T>C ENST00000375213.3 + 12 1065 MLTK_ENST00000409176.2_Intron|MLTK_ENST00000338983.3_3'UTR|MLK7-AS1_ENST00000423106.2_RNA|MLK7-AS1_ENST00000422703.1_RNA NM_016653.2 NP_057737.2 Q9NYL2 MLTK_HUMAN NA NA activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell death (GO:0008219)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|DNA damage checkpoint (GO:0000077)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|response to radiation (GO:0009314)|response to stress (GO:0006950) cytoplasm (GO:0005737)|nucleus (GO:0005634) ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674) NA TCTTAATTTATGTATAAATCC 0.308 NA C||| 4905 0.979433 0.975 0.9899 5008 , , NA 20356 0.998 NA 1.0 False NA ,,, NA NA NA 2504 0.9376 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000375213.3:c.988-5305T>C chr2.hg19:g.174089112T>C NA B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9 hg19 CCDS42777.1 0.02 4.543888 TTAxGTA COVERED NOVEL MLTK-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255401.1 0 5.11525 KEEP 0 0 0 17 524 TT 0.999366 0.999366 0 + 10 60 362 0 0 25.701529 119 60 4362 169 ENST00000375213.3 0.077519 1 MLTK 0 __UNKNOWN__ __UNKNOWN__ 2 174091088 174091088 __UNKNOWN__ Intron SNP T T C rs11887008 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:174091088T>C ENST00000375213.3 + 12 1065 MLTK_ENST00000409176.2_Intron|MLTK_ENST00000338983.3_3'UTR|MLK7-AS1_ENST00000423106.2_RNA|MLK7-AS1_ENST00000422703.1_RNA NM_016653.2 NP_057737.2 Q9NYL2 MLTK_HUMAN NA NA activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell death (GO:0008219)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|DNA damage checkpoint (GO:0000077)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|response to radiation (GO:0009314)|response to stress (GO:0006950) cytoplasm (GO:0005737)|nucleus (GO:0005634) ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674) NA CTAGACTTATTGCAGCCTTTT 0.289 NA T||| 3854 0.769569 0.68 0.6902 5008 , , NA 17504 0.9167 NA 0.7863 False NA ,,, NA NA NA 2504 0.7781 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000375213.3:c.988-3329T>C chr2.hg19:g.174091088T>C NA B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9 hg19 CCDS42777.1 0.02 9.055859 TATxGCA COVERED NOVEL MLTK-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255401.1 1 12.030545 KEEP 0 0 0 40 1229 TT 1 1 0 + 16 60 578 0 0 40.671381 200 60 7233 305 ENST00000375213.3 0.074074 1 MLTK 0 __UNKNOWN__ __UNKNOWN__ 2 174097106 174097106 __UNKNOWN__ Silent SNP A A G rs16861406 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:174097106A>G ENST00000375213.3 + 14 1200 c.1122A>G c.(1120-1122)acA>acG p.T374T MLTK_ENST00000409176.2_Silent_p.T374T|MLK7-AS1_ENST00000423106.2_RNA|MLK7-AS1_ENST00000422703.1_RNA NM_016653.2 NP_057737.2 Q9NYL2 MLTK_HUMAN 374 SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}. NA activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell death (GO:0008219)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|DNA damage checkpoint (GO:0000077)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|response to radiation (GO:0009314)|response to stress (GO:0006950) cytoplasm (GO:0005737)|nucleus (GO:0005634) ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674) NA ACAACATTACAGGGAAGCGGC 0.423 NA A||| 927 0.185104 0.0552 0.1585 5008 , , NA 19437 0.5903 NA 0.0736 False NA ,,, NA NA NA 2504 0.0767 NA NA NA NA 0 A 234,3670 5,224,1723 153 153 153 1122 -5.6 1 2 dbSNP_123 153 573,7749 26,521,3614 no coding-synonymous ZAK NM_016653.2 31,745,5337 GG,GA,AA 6.8854,5.9939,6.6007 374/801 174097106 807,11419 1952 4161 6113 SO:0001819 synonymous_variant NA NA NA NA ENST00000375213.3:c.1122A>G chr2.hg19:g.174097106A>G NA B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9 hg19 CCDS42777.1 0.02 16.343178 TACxGGG COVERED NOVEL MLTK-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255401.1 1 13.541073 KEEP 0 0 0 45 1438 AA 1 1 0 + 22 60 780 0 0 52.858435 327 60 12342 479 ENST00000375213.3 0.063037 1 MLTK 0 __UNKNOWN__ __UNKNOWN__ 2 174103160 174103160 __UNKNOWN__ Silent SNP T T C rs3739103 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:174103160T>C ENST00000375213.3 + 15 1341 c.1263T>C c.(1261-1263)atT>atC p.I421I MLTK_ENST00000409176.2_Silent_p.I421I|MLK7-AS1_ENST00000423106.2_RNA|MLK7-AS1_ENST00000422703.1_RNA NM_016653.2 NP_057737.2 Q9NYL2 MLTK_HUMAN 421 NA activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell death (GO:0008219)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|DNA damage checkpoint (GO:0000077)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|response to radiation (GO:0009314)|response to stress (GO:0006950) cytoplasm (GO:0005737)|nucleus (GO:0005634) ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674) NA CACCACTAATTAAGGTAAGTA 0.343 NA T||| 750 0.14976 0.056 0.085 5008 , , NA 19343 0.5575 NA 0.0249 False NA ,,, NA NA NA 2504 0.0307 NA NA NA NA 0 T 193,3633 4,185,1724 117 111 113 1263 1.6 1 2 dbSNP_107 113 229,8049 3,223,3913 no coding-synonymous ZAK NM_016653.2 7,408,5637 CC,CT,TT 2.7664,5.0444,3.4865 421/801 174103160 422,11682 1913 4139 6052 SO:0001819 synonymous_variant NA NA NA NA ENST00000375213.3:c.1263T>C chr2.hg19:g.174103160T>C NA B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9 hg19 CCDS42777.1 0.02 15.003228 AATxAAG COVERED NOVEL MLTK-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255401.1 1 12.030958 KEEP 0 0 0 40 1162 TT 1 1 0 + 23 60 865 0 0 61.156559 310 60 11200 450 ENST00000375213.3 0.069069 1 MLTK 0 __UNKNOWN__ __UNKNOWN__ 2 174104358 174104358 __UNKNOWN__ Intron SNP T T C rs77541672 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:174104358T>C ENST00000375213.3 + 16 1437 MLTK_ENST00000409176.2_Intron|MLK7-AS1_ENST00000423106.2_RNA|MLK7-AS1_ENST00000422703.1_RNA NM_016653.2 NP_057737.2 Q9NYL2 MLTK_HUMAN NA NA activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell death (GO:0008219)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|DNA damage checkpoint (GO:0000077)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|response to radiation (GO:0009314)|response to stress (GO:0006950) cytoplasm (GO:0005737)|nucleus (GO:0005634) ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674) NA CTTTATAAAATAGAATTTAGC 0.413 NA T||| 749 0.149561 0.0545 0.0879 5008 , , NA 16609 0.5575 NA 0.0239 False NA ,,, NA NA NA 2504 0.0307 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000375213.3:c.1359+134T>C chr2.hg19:g.174104358T>C NA B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9 hg19 CCDS42777.1 0.02 4.766501 AAAxAGA COVERED NOVEL MLTK-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255401.1 1 5.107607 KEEP 0 0 0 17 507 TT 0.999366 0.999363 0 + 11 60 416 0 0 31.099596 104 60 3644 141 ENST00000375213.3 0.095652 0.999997 MLTK 0 __UNKNOWN__ __UNKNOWN__ 2 174132586 174132586 __UNKNOWN__ 3'UTR SNP G G C rs3769147 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:174132586G>C ENST00000375213.3 + 0 3589 MLK7-AS1_ENST00000423106.2_RNA|MLK7-AS1_ENST00000422703.1_RNA NM_016653.2 NP_057737.2 Q9NYL2 MLTK_HUMAN NA NA activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell death (GO:0008219)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|DNA damage checkpoint (GO:0000077)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|response to radiation (GO:0009314)|response to stress (GO:0006950) cytoplasm (GO:0005737)|nucleus (GO:0005634) ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674) NA TGTGGGCAAAGAGGTAAACCA 0.443 NA G||| 658 0.13139 0.0045 0.0893 5008 , , NA 19147 0.5357 NA 0.0099 False NA ,,, NA NA NA 2504 0.0409 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant NA NA NA NA ENST00000375213.3:c.*1108G>C chr2.hg19:g.174132586G>C NA B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9 hg19 CCDS42777.1 0.02 3.818777 AAAxAGG COVERED NOVEL MLTK-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255401.1 1 4.513708 KEEP 0 0 0 15 509 GG 0.99649 0.99649 0 + 5 60 184 0 0 11.568808 126 60 4788 164 ENST00000375213.3 0.038168 1 CDCA7 83879 __UNKNOWN__ __UNKNOWN__ 2 174228496 174228496 __UNKNOWN__ Intron SNP C C T rs78763949 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:174228496C>T ENST00000347703.3 + 4 528 CDCA7_ENST00000392567.2_Intron|CDCA7_ENST00000306721.3_Intron|CDCA7_ENST00000410101.3_Intron|CDCA7_ENST00000410019.3_Intron NM_145810.2 NP_665809.1 Q9BWT1 CDCA7_HUMAN cell division cycle associated 7 NA NA apoptotic process (GO:0006915)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1) 18 OV - Ovarian serous cystadenocarcinoma(117;0.116) TGCTCATTTTCGACAGTTATT 0.368 NA C||| 247 0.0493211 0.0038 0.0519 5008 , , NA 19064 0.1607 NA 0.0258 False NA ,,, NA NA NA 2504 0.0184 NA NA NA NA 0 C , 29,4377 30.8+/-60.4 0,29,2174 102 103 102 , -2.5 0 2 dbSNP_131 102 162,8438 68.4+/-130.8 1,160,4139 no intron,intron CDCA7 NM_031942.4,NM_145810.2 , 1,189,6313 TT,TC,CC 1.8837,0.6582,1.4686 , , 174228496 191,12815 2203 4300 6503 SO:0001627 intron_variant BG354580 CCDS2252.1, CCDS2253.1 2q31.1 2008-02-05 ENSG00000144354 ENSG00000144354 83879 14628 protein-coding gene gene with protein product 609937 NA 11598121, 12188893 Standard NM_031942 NM_145810 NA Approved FLJ14736, JPO1 uc002uic.1 Q9BWT1 OTTHUMG00000132296 ENST00000347703.3:c.385-50C>T chr2.hg19:g.174228496C>T NA B4DLP8|B4DV66|Q53EW5|Q580W9|Q658K4|Q658N4|Q8NBY9|Q96BV8|Q96SP5 hg19 CCDS2253.1 0.02 11.299659 TTTxGAC COVERED NOVEL CDCA7-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255400.1 2 8.125957 KEEP 0 0 0 27 908 CC 0.999988 0.999988 0 + 16 60 582 0 0 39.259661 262 60 9644 359 ENST00000347703.3 0.057554 1 CDCA7 83879 __UNKNOWN__ __UNKNOWN__ 2 174233064 174233064 __UNKNOWN__ 3'UTR SNP G G A rs78652913 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:174233064G>A ENST00000347703.3 + 0 1932 CDCA7_ENST00000392567.2_3'UTR|CDCA7_ENST00000306721.3_3'UTR NM_145810.2 NP_665809.1 Q9BWT1 CDCA7_HUMAN cell division cycle associated 7 NA NA apoptotic process (GO:0006915)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1) 18 OV - Ovarian serous cystadenocarcinoma(117;0.116) AGGTTGGTGGGCAATGTAATA 0.338 NA G||| 247 0.0493211 0.0023 0.0533 5008 , , NA 18410 0.1617 NA 0.0258 False NA ,,, NA NA NA 2504 0.0184 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BG354580 CCDS2252.1, CCDS2253.1 2q31.1 2008-02-05 ENSG00000144354 ENSG00000144354 83879 14628 protein-coding gene gene with protein product 609937 NA 11598121, 12188893 Standard NM_031942 NM_145810 NA Approved FLJ14736, JPO1 uc002uic.1 Q9BWT1 OTTHUMG00000132296 ENST00000347703.3:c.*672G>A chr2.hg19:g.174233064G>A NA B4DLP8|B4DV66|Q53EW5|Q580W9|Q658K4|Q658N4|Q8NBY9|Q96BV8|Q96SP5 hg19 CCDS2253.1 0.02 6.073203 TGGxCAA COVERED NOVEL CDCA7-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255400.1 3 5.116785 KEEP 0 0 0 17 611 GG 0.999366 0.999366 0 + 11 60 390 0 0 26.555824 159 60 5789 205 ENST00000347703.3 0.064706 1 OLA1 29789 __UNKNOWN__ __UNKNOWN__ 2 174937278 174937278 __UNKNOWN__ 3'UTR SNP G G A rs3739153|rs386652861 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:174937278G>A ENST00000284719.3 - 0 4313 NM_013341.3 NP_037473.3 Obg-like ATPase 1 NA NA breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 11 AGGAACAACCGACATTTCTCA 0.353 NA A||| 3365 0.671925 0.6309 0.5259 5008 , , NA 19897 0.9593 NA 0.5 False NA ,,, NA NA NA 2504 0.7117 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS2255.1, CCDS42779.1 2q31.1 2014-06-24 2007-07-27 2007-07-27 ENSG00000138430 ENSG00000138430 29789 28833 protein-coding gene gene with protein product 611175 GTP-binding protein 9 (putative) GTPBP9 NA 17430889, 24486488 Standard NM_013341 NM_013341 NA Approved PTD004 uc002uih.3 Q9NTK5 OTTHUMG00000132335 ENST00000284719.3:c.*2876C>T chr2.hg19:g.174937278G>A NA hg19 CCDS2255.1 0.02 6.521029 ACCxACA COVERED NOVEL OLA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255454.2 1 14.445618 KEEP 0 0 0 48 1613 GG 1 1 0 - 10 60 368 0 0 24.90871 166 60 5837 273 ENST00000284719.3 0.056818 1 OLA1 29789 __UNKNOWN__ __UNKNOWN__ 2 174937467 174937467 __UNKNOWN__ 3'UTR SNP T T C rs3739152 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:174937467T>C ENST00000284719.3 - 0 4124 NM_013341.3 NP_037473.3 Obg-like ATPase 1 NA NA breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 11 AACTGGAATTTTAATATAGGA 0.368 NA C||| 3364 0.671725 0.6309 0.5274 5008 , , NA 18567 0.9593 NA 0.5 False NA ,,, NA NA NA 2504 0.7096 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS2255.1, CCDS42779.1 2q31.1 2014-06-24 2007-07-27 2007-07-27 ENSG00000138430 ENSG00000138430 29789 28833 protein-coding gene gene with protein product 611175 GTP-binding protein 9 (putative) GTPBP9 NA 17430889, 24486488 Standard NM_013341 NM_013341 NA Approved PTD004 uc002uih.3 Q9NTK5 OTTHUMG00000132335 ENST00000284719.3:c.*2687A>G chr2.hg19:g.174937467T>C NA hg19 CCDS2255.1 0.02 8.902187 ATTxTAA COVERED NOVEL OLA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255454.2 0 9.028058 KEEP 0 0 0 30 983 TT 0.999997 0.999997 0 - 21 60 779 0 0 56.806601 224 60 8020 337 ENST00000284719.3 0.085714 1 OLA1 29789 __UNKNOWN__ __UNKNOWN__ 2 174939083 174939083 __UNKNOWN__ 3'UTR SNP G G A rs35145102 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:174939083G>A ENST00000284719.3 - 0 2508 NM_013341.3 NP_037473.3 Obg-like ATPase 1 NA NA breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 11 ACAAGAGAAGGCTAAGTGGCA 0.453 NA G||| 1813 0.362021 0.1422 0.255 5008 , , NA 18418 0.7083 NA 0.2763 False NA ,,, NA NA NA 2504 0.4663 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS2255.1, CCDS42779.1 2q31.1 2014-06-24 2007-07-27 2007-07-27 ENSG00000138430 ENSG00000138430 29789 28833 protein-coding gene gene with protein product 611175 GTP-binding protein 9 (putative) GTPBP9 NA 17430889, 24486488 Standard NM_013341 NM_013341 NA Approved PTD004 uc002uih.3 Q9NTK5 OTTHUMG00000132335 ENST00000284719.3:c.*1071C>T chr2.hg19:g.174939083G>A NA hg19 CCDS2255.1 0.02 4.554492 AAGxCTA COVERED NOVEL OLA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255454.2 0 6.922496 KEEP 0 0 0 23 823 GG 0.999892 0.999876 0 - 5 60 184 0 0 12.059442 100 60 3706 144 ENST00000284719.3 0.047619 0.999984 OLA1 29789 __UNKNOWN__ __UNKNOWN__ 2 174939168 174939168 __UNKNOWN__ 3'UTR SNP C C T rs6737629 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:174939168C>T ENST00000284719.3 - 0 2423 NM_013341.3 NP_037473.3 Obg-like ATPase 1 NA NA breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 11 AAGTGCTTAACTTACCCATAC 0.328 NA C||| 2690 0.537141 0.3048 0.4524 5008 , , NA 19034 0.9534 NA 0.4284 False NA ,,, NA NA NA 2504 0.5941 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS2255.1, CCDS42779.1 2q31.1 2014-06-24 2007-07-27 2007-07-27 ENSG00000138430 ENSG00000138430 29789 28833 protein-coding gene gene with protein product 611175 GTP-binding protein 9 (putative) GTPBP9 NA 17430889, 24486488 Standard NM_013341 NM_013341 NA Approved PTD004 uc002uih.3 Q9NTK5 OTTHUMG00000132335 ENST00000284719.3:c.*986G>A chr2.hg19:g.174939168C>T NA hg19 CCDS2255.1 0.02 4.370196 TAAxTTA COVERED NOVEL OLA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255454.2 1 4.806076 KEEP 0 0 0 16 551 CC 0.997832 0.997831 0 - 6 60 226 0 0 14.990104 120 60 4541 166 ENST00000284719.3 0.047619 1 OLA1 29789 __UNKNOWN__ __UNKNOWN__ 2 174943876 174943876 __UNKNOWN__ Intron SNP C C T rs3754812 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:174943876C>T ENST00000409546.1 - 10 1657 OLA1_ENST00000428402.2_Intron|OLA1_ENST00000344357.5_Intron|OLA1_ENST00000392560.2_Intron|OLA1_ENST00000284719.3_Intron Obg-like ATPase 1 NA NA breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 11 ATTGTAAGCACAGAGTTTCTT 0.373 NA T||| 2242 0.447684 0.261 0.33 5008 , , NA 18023 0.9375 NA 0.2266 False NA ,,, NA NA NA 2504 0.5061 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS2255.1, CCDS42779.1 2q31.1 2014-06-24 2007-07-27 2007-07-27 ENSG00000138430 ENSG00000138430 29789 28833 protein-coding gene gene with protein product 611175 GTP-binding protein 9 (putative) GTPBP9 NA 17430889, 24486488 Standard NM_013341 NM_013341 NA Approved PTD004 uc002uih.3 Q9NTK5 OTTHUMG00000132335 ENST00000409546.1:c.1027-58G>A chr2.hg19:g.174943876C>T NA hg19 0.02 -0.403578 GCAxAGA COVERED NOVEL OLA1-003 PUTATIVE not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000333877.1 0 5.11664 KEEP 0 0 0 17 594 CC 0.999366 0.9339 0 - 3 60 116 0 0 8.215832 43 60 1640 77 ENST00000409546.1 0.065217 0.934492 SP9 100131390 __UNKNOWN__ __UNKNOWN__ 2 175201299 175201299 __UNKNOWN__ Silent SNP C C G rs62174227 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:175201299C>G ENST00000394967.2 + 2 633 c.486C>G c.(484-486)ggC>ggG p.G162G AC018470.1_ENST00000595354.1_Missense_Mutation_p.A285P NM_001145250.1 NP_001138722.1 P0CG40 SP9_HUMAN Sp9 transcription factor 162 NA embryonic limb morphogenesis (GO:0030326)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) lung(1) 1 ACAAGTCGGGCTTCCATTCGA 0.687 NA c||| 1604 0.320288 0.1036 0.4409 5008 , , NA 12721 0.6478 NA 0.2137 False NA ,,, NA NA NA 2504 0.2996 NA NA NA NA 0 6 9 8 NA NA 2 NA 175201299 678 1565 2243 SO:0001819 synonymous_variant CCDS46453.1 2q31.1 2013-01-08 2012-12-07 ENSG00000217236 ENSG00000217236 100131390 Specificity protein transcription factors, Zinc fingers, C2H2-type 30690 protein-coding gene gene with protein product zinc finger protein 990 Sp9 transcription factor homolog (mouse) NA Standard NM_001145250 NM_001145250 NA Approved ZNF990 uc010zem.1 P0CG40 OTTHUMG00000150371 ENST00000394967.2:c.486C>G chr2.hg19:g.175201299C>G NA hg19 CCDS46453.1 0.02 17.092487 GGGxTTC COVERED NOVEL SP9-001 NOVEL not_organism_supported|not_organism_supported|basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000317878.1 0 47.206858 KEEP 0 0 0 157 5611 CC 1 1 0 + 28 60 1044 0 0 74.814106 339 60 12954 697 ENST00000394967.2 0.076294 1 KIAA1715 80856 __UNKNOWN__ __UNKNOWN__ 2 176790067 176790067 __UNKNOWN__ 3'UTR SNP C C A rs192361405 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:176790067C>A ENST00000272748.4 - 0 6162 NM_030650.1 NP_085153.1 Q9C0E8 LNP_HUMAN KIAA1715 NA NA blood coagulation (GO:0007596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|limb development (GO:0060173)|regulation of chondrocyte differentiation (GO:0032330) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) metal ion binding (GO:0046872) endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(117;0.0793) GATTCCAATTCAATTAAACAG 0.398 NA C||| 4 0.000798722 0.0 0.0 5008 , , NA 18100 0.004 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB051502 CCDS33332.1 2q31 2014-06-27 ENSG00000144320 ENSG00000144320 80856 21610 protein-coding gene gene with protein product lunapark, limb and neural patterns 610236 NA 11214970, 22729086 Standard XM_042834 NM_030650 NA Approved ulnaless, Ul, LNP1, LNP uc002ukc.1 Q9C0E8 OTTHUMG00000154112 ENST00000272748.4:c.*4628G>T chr2.hg19:g.176790067C>A NA B7ZLA8|Q2M2V8|Q2YD99|Q658W8|Q8N5V9|Q96MS5 hg19 CCDS33332.1 0.02 6.669792 ATTxAAT COVERED NOVEL KIAA1715-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000333949.3 1 8.426876 KEEP 0 0 0 28 995 CC 0.999997 0.999997 0 - 17 60 611 0 0 44.233103 176 60 6819 277 ENST00000272748.4 0.088083 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 178459296 178459296 __UNKNOWN__ IGR SNP C C T rs73034976 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:178459296C>T NA NA TTC30B (41554 upstream) : AC073834.3 (8520 downstream) NA NA NA cgctagaccacggttcgcttg 0.577 NA T||| 617 0.123203 0.3169 0.0519 5008 , , NA 18110 0.0456 NA 0.0368 False NA ,,, NA NA NA 2504 0.0808 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.178459296C>T NA hg19 0.02 -0.307053 CCAxGGT COVERED NOVEL 0 1 2.708865 KEEP 0 0 0 9 323 CC 0.99254 0.794276 0 3 60 113 0 0 8.285906 32 60 1164 58 0.085714 0.800245 TTC30A 92104 __UNKNOWN__ __UNKNOWN__ 2 178479149 178479149 __UNKNOWN__ 3'UTR SNP T T C rs16865446 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:178479149T>C ENST00000355689.5 - 0 4545 AC073834.3_ENST00000357045.4_RNA NM_152275.3 NP_689488.3 Q86WT1 TT30A_HUMAN tetratricopeptide repeat domain 30A NA NA cilium assembly (GO:0042384)|intraciliary transport (GO:0042073) cilium (GO:0005929)|intraciliary transport particle B (GO:0030992) autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169) AGATGGAGGCTACCACAAATA 0.299 NA T||| 568 0.113419 0.0628 0.0447 5008 , , NA 15674 0.1855 NA 0.0875 False NA ,,, NA NA NA 2504 0.183 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK024008 CCDS2276.1 2q31.2 2013-01-11 ENSG00000197557 ENSG00000197557 92104 Tetratricopeptide (TTC) repeat domain containing 25853 protein-coding gene gene with protein product NA 12477932 Standard NM_152275 NM_152275 NA Approved FLJ13946 uc002ulo.3 Q86WT1 OTTHUMG00000132528 ENST00000355689.5:c.*2283A>G chr2.hg19:g.178479149T>C NA A8K8N0|Q8IVP2 hg19 CCDS2276.1 0.02 7.732279 GGCxACC COVERED NOVEL TTC30A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255728.2 1 10.832294 KEEP 0 0 0 36 1124 TT 0.999999 0.999999 0 - 19 60 728 0 0 56.38518 144 60 5180 230 ENST00000355689.5 0.116564 1 TTC30A 92104 __UNKNOWN__ __UNKNOWN__ 2 178479248 178479248 __UNKNOWN__ 3'UTR SNP T T G rs10497498 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:178479248T>G ENST00000355689.5 - 0 4446 AC073834.3_ENST00000357045.4_RNA NM_152275.3 NP_689488.3 Q86WT1 TT30A_HUMAN tetratricopeptide repeat domain 30A NA NA cilium assembly (GO:0042384)|intraciliary transport (GO:0042073) cilium (GO:0005929)|intraciliary transport particle B (GO:0030992) autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169) ATTACCAATCTGAGAGTCACT 0.303 NA T||| 566 0.113019 0.062 0.0447 5008 , , NA 17088 0.1855 NA 0.0875 False NA ,,, NA NA NA 2504 0.182 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK024008 CCDS2276.1 2q31.2 2013-01-11 ENSG00000197557 ENSG00000197557 92104 Tetratricopeptide (TTC) repeat domain containing 25853 protein-coding gene gene with protein product NA 12477932 Standard NM_152275 NM_152275 NA Approved FLJ13946 uc002ulo.3 Q86WT1 OTTHUMG00000132528 ENST00000355689.5:c.*2184A>C chr2.hg19:g.178479248T>G NA A8K8N0|Q8IVP2 hg19 CCDS2276.1 0.02 7.218179 ATCxGAG COVERED NOVEL TTC30A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255728.2 0 8.72718 KEEP 0 0 0 29 936 TT 0.999997 0.999997 0 - 17 60 613 0 0 45.146007 159 60 5955 253 ENST00000355689.5 0.096591 1 TTC30A 92104 __UNKNOWN__ __UNKNOWN__ 2 178479284 178479284 __UNKNOWN__ 3'UTR SNP T T C rs75910863 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:178479284T>C ENST00000355689.5 - 0 4410 AC073834.3_ENST00000357045.4_RNA NM_152275.3 NP_689488.3 Q86WT1 TT30A_HUMAN tetratricopeptide repeat domain 30A NA NA cilium assembly (GO:0042384)|intraciliary transport (GO:0042073) cilium (GO:0005929)|intraciliary transport particle B (GO:0030992) autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169) TTATCTTGTTTTGCAAAAATG 0.313 NA T||| 171 0.0341454 0.0408 0.013 5008 , , NA 17291 0.0109 NA 0.0199 False NA ,,, NA NA NA 2504 0.0787 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK024008 CCDS2276.1 2q31.2 2013-01-11 ENSG00000197557 ENSG00000197557 92104 Tetratricopeptide (TTC) repeat domain containing 25853 protein-coding gene gene with protein product NA 12477932 Standard NM_152275 NM_152275 NA Approved FLJ13946 uc002ulo.3 Q86WT1 OTTHUMG00000132528 ENST00000355689.5:c.*2148A>G chr2.hg19:g.178479284T>C NA A8K8N0|Q8IVP2 hg19 CCDS2276.1 0.02 7.171006 GTTxTGC COVERED NOVEL TTC30A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255728.2 0 10.231254 KEEP 0 0 0 34 1088 TT 0.999998 0.999998 0 - 16 60 610 0 0 45.604985 154 60 5555 243 ENST00000355689.5 0.094118 1 TTC30A 92104 __UNKNOWN__ __UNKNOWN__ 2 178479422 178479422 __UNKNOWN__ 3'UTR SNP A A G rs3821003 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:178479422A>G ENST00000355689.5 - 0 4272 AC073834.3_ENST00000357045.4_RNA NM_152275.3 NP_689488.3 Q86WT1 TT30A_HUMAN tetratricopeptide repeat domain 30A NA NA cilium assembly (GO:0042384)|intraciliary transport (GO:0042073) cilium (GO:0005929)|intraciliary transport particle B (GO:0030992) autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169) TCAGAGAAAAATGTCCCTATA 0.333 NA G||| 575 0.114816 0.0681 0.0461 5008 , , NA 18145 0.1855 NA 0.0875 False NA ,,, NA NA NA 2504 0.182 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK024008 CCDS2276.1 2q31.2 2013-01-11 ENSG00000197557 ENSG00000197557 92104 Tetratricopeptide (TTC) repeat domain containing 25853 protein-coding gene gene with protein product NA 12477932 Standard NM_152275 NM_152275 NA Approved FLJ13946 uc002ulo.3 Q86WT1 OTTHUMG00000132528 ENST00000355689.5:c.*2010T>C chr2.hg19:g.178479422A>G NA A8K8N0|Q8IVP2 hg19 CCDS2276.1 0.02 6.967894 AAAxTGT COVERED NOVEL TTC30A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255728.2 2 15.044203 KEEP 0 0 0 50 1575 AA 1 1 0 - 13 60 490 0 0 35.661445 146 60 5322 252 ENST00000355689.5 0.081761 1 TTC30A 92104 __UNKNOWN__ __UNKNOWN__ 2 178479479 178479479 __UNKNOWN__ 3'UTR SNP A A G rs3731804 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:178479479A>G ENST00000355689.5 - 0 4215 AC073834.3_ENST00000357045.4_RNA NM_152275.3 NP_689488.3 Q86WT1 TT30A_HUMAN tetratricopeptide repeat domain 30A NA NA cilium assembly (GO:0042384)|intraciliary transport (GO:0042073) cilium (GO:0005929)|intraciliary transport particle B (GO:0030992) autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169) GAAAGAGAACAGGGTGGTAAG 0.368 NA G||| 565 0.112819 0.0613 0.0447 5008 , , NA 18838 0.1855 NA 0.0875 False NA ,,, NA NA NA 2504 0.182 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK024008 CCDS2276.1 2q31.2 2013-01-11 ENSG00000197557 ENSG00000197557 92104 Tetratricopeptide (TTC) repeat domain containing 25853 protein-coding gene gene with protein product NA 12477932 Standard NM_152275 NM_152275 NA Approved FLJ13946 uc002ulo.3 Q86WT1 OTTHUMG00000132528 ENST00000355689.5:c.*1953T>C chr2.hg19:g.178479479A>G NA A8K8N0|Q8IVP2 hg19 CCDS2276.1 0.02 5.873827 AACxGGG COVERED NOVEL TTC30A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255728.2 2 12.335321 KEEP 0 0 0 41 1252 AA 1 1 0 - 16 60 516 0 0 36.227171 154 60 5678 242 ENST00000355689.5 0.094118 1 TTC30A 92104 __UNKNOWN__ __UNKNOWN__ 2 178480063 178480063 __UNKNOWN__ 3'UTR SNP C C T rs3821004 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:178480063C>T ENST00000355689.5 - 0 3631 AC073834.3_ENST00000357045.4_RNA NM_152275.3 NP_689488.3 Q86WT1 TT30A_HUMAN tetratricopeptide repeat domain 30A NA NA cilium assembly (GO:0042384)|intraciliary transport (GO:0042073) cilium (GO:0005929)|intraciliary transport particle B (GO:0030992) autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169) GGATTAAAAGCAAATCTCCTC 0.274 NA C||| 565 0.112819 0.0613 0.0447 5008 , , NA 17233 0.1855 NA 0.0875 False NA ,,, NA NA NA 2504 0.182 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK024008 CCDS2276.1 2q31.2 2013-01-11 ENSG00000197557 ENSG00000197557 92104 Tetratricopeptide (TTC) repeat domain containing 25853 protein-coding gene gene with protein product NA 12477932 Standard NM_152275 NM_152275 NA Approved FLJ13946 uc002ulo.3 Q86WT1 OTTHUMG00000132528 ENST00000355689.5:c.*1369G>A chr2.hg19:g.178480063C>T NA A8K8N0|Q8IVP2 hg19 CCDS2276.1 0.02 8.504074 AAGxAAA COVERED NOVEL TTC30A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255728.2 1 14.447918 KEEP 0 0 0 48 1775 CC 1 1 0 - 11 60 389 0 0 25.150751 211 60 8212 372 ENST00000355689.5 0.04955 1 TTC30A 92104 __UNKNOWN__ __UNKNOWN__ 2 178480532 178480532 __UNKNOWN__ 3'UTR SNP C C A rs16865448 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:178480532C>A ENST00000355689.5 - 0 3162 AC073834.3_ENST00000357045.4_RNA NM_152275.3 NP_689488.3 Q86WT1 TT30A_HUMAN tetratricopeptide repeat domain 30A NA NA cilium assembly (GO:0042384)|intraciliary transport (GO:0042073) cilium (GO:0005929)|intraciliary transport particle B (GO:0030992) autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169) GAATTTCTGACAGCCTAAAAT 0.289 NA A||| 552 0.110224 0.059 0.0447 5008 , , NA 13320 0.1796 NA 0.0855 False NA ,,, NA NA NA 2504 0.18 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK024008 CCDS2276.1 2q31.2 2013-01-11 ENSG00000197557 ENSG00000197557 92104 Tetratricopeptide (TTC) repeat domain containing 25853 protein-coding gene gene with protein product NA 12477932 Standard NM_152275 NM_152275 NA Approved FLJ13946 uc002ulo.3 Q86WT1 OTTHUMG00000132528 ENST00000355689.5:c.*900G>T chr2.hg19:g.178480532C>A NA A8K8N0|Q8IVP2 hg19 CCDS2276.1 0.02 4.834902 TGAxAGC COVERED NOVEL TTC30A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255728.2 0 16.554536 KEEP 0 0 0 55 1990 CC 1 1 0 - 10 60 370 0 0 26.466766 120 60 4561 239 ENST00000355689.5 0.076923 1 TTC30A 92104 __UNKNOWN__ __UNKNOWN__ 2 178480772 178480772 __UNKNOWN__ 3'UTR SNP C C T rs16865449 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:178480772C>T ENST00000355689.5 - 0 2922 AC073834.3_ENST00000357045.4_RNA NM_152275.3 NP_689488.3 Q86WT1 TT30A_HUMAN tetratricopeptide repeat domain 30A NA NA cilium assembly (GO:0042384)|intraciliary transport (GO:0042073) cilium (GO:0005929)|intraciliary transport particle B (GO:0030992) autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169) TAAGAAGCAACCAATCAACCA 0.284 NA C||| 565 0.112819 0.0613 0.0447 5008 , , NA 15026 0.1855 NA 0.0875 False NA ,,, NA NA NA 2504 0.182 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK024008 CCDS2276.1 2q31.2 2013-01-11 ENSG00000197557 ENSG00000197557 92104 Tetratricopeptide (TTC) repeat domain containing 25853 protein-coding gene gene with protein product NA 12477932 Standard NM_152275 NM_152275 NA Approved FLJ13946 uc002ulo.3 Q86WT1 OTTHUMG00000132528 ENST00000355689.5:c.*660G>A chr2.hg19:g.178480772C>T NA A8K8N0|Q8IVP2 hg19 CCDS2276.1 0.02 11.166632 CAAxCAA COVERED NOVEL TTC30A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255728.2 6 34.612059 KEEP 0 0 0 115 4090 CC 1 1 0 - 20 60 730 0 0 51.997797 238 60 8902 492 ENST00000355689.5 0.077519 1 TTC30A 92104 __UNKNOWN__ __UNKNOWN__ 2 178480824 178480824 __UNKNOWN__ 3'UTR SNP C C T rs144716682 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:178480824C>T ENST00000355689.5 - 0 2870 AC073834.3_ENST00000357045.4_RNA NM_152275.3 NP_689488.3 Q86WT1 TT30A_HUMAN tetratricopeptide repeat domain 30A NA NA cilium assembly (GO:0042384)|intraciliary transport (GO:0042073) cilium (GO:0005929)|intraciliary transport particle B (GO:0030992) autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169) ACCTCATAACCTGAAAAGAAC 0.308 NA C||| 178 0.0355431 0.0454 0.0144 5008 , , NA 16504 0.0109 NA 0.0199 False NA ,,, NA NA NA 2504 0.0787 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK024008 CCDS2276.1 2q31.2 2013-01-11 ENSG00000197557 ENSG00000197557 92104 Tetratricopeptide (TTC) repeat domain containing 25853 protein-coding gene gene with protein product NA 12477932 Standard NM_152275 NM_152275 NA Approved FLJ13946 uc002ulo.3 Q86WT1 OTTHUMG00000132528 ENST00000355689.5:c.*608G>A chr2.hg19:g.178480824C>T NA A8K8N0|Q8IVP2 hg19 CCDS2276.1 0.02 12.347301 AACxTGA COVERED NOVEL TTC30A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255728.2 4 29.797913 KEEP 0 0 0 99 3596 CC 1 1 0 - 24 60 870 0 0 63.705772 236 60 8978 462 ENST00000355689.5 0.092308 1 TTC30A 92104 __UNKNOWN__ __UNKNOWN__ 2 178481399 178481399 __UNKNOWN__ 3'UTR SNP A A G rs57691380 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:178481399A>G ENST00000355689.5 - 0 2295 AC073834.3_ENST00000357045.4_RNA NM_152275.3 NP_689488.3 Q86WT1 TT30A_HUMAN tetratricopeptide repeat domain 30A NA NA cilium assembly (GO:0042384)|intraciliary transport (GO:0042073) cilium (GO:0005929)|intraciliary transport particle B (GO:0030992) autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169) TACGTAAGAAAGCCATTTTGA 0.308 NA A||| 178 0.0355431 0.0454 0.0144 5008 , , NA 21442 0.0109 NA 0.0199 False NA ,,, NA NA NA 2504 0.0787 NA NA NA NA 0 A 183,4221 84.4+/-122.9 4,175,2023 99 96 97 3.4 0 2 dbSNP_129 97 129,8471 39.8+/-96.3 2,125,4173 no utr-3 TTC30A NM_152275.3 6,300,6196 GG,GA,AA 1.5,4.1553,2.3993 178481399 312,12692 2202 4300 6502 SO:0001624 3_prime_UTR_variant AK024008 CCDS2276.1 2q31.2 2013-01-11 ENSG00000197557 ENSG00000197557 92104 Tetratricopeptide (TTC) repeat domain containing 25853 protein-coding gene gene with protein product NA 12477932 Standard NM_152275 NM_152275 NA Approved FLJ13946 uc002ulo.3 Q86WT1 OTTHUMG00000132528 ENST00000355689.5:c.*33T>C chr2.hg19:g.178481399A>G NA A8K8N0|Q8IVP2 hg19 CCDS2276.1 0.02 33.101267 GAAxGCC COVERED NOVEL TTC30A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255728.2 11 48.750202 KEEP 0 0 0 162 5248 AA 1 1 0 - 51 60 1936 0 0 139.799457 614 60 22793 1040 ENST00000355689.5 0.076692 1 TTC30A 92104 __UNKNOWN__ __UNKNOWN__ 2 178482560 178482560 __UNKNOWN__ Silent SNP C C T rs61164370 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:178482560C>T ENST00000355689.5 - 1 1134 c.870G>A c.(868-870)ctG>ctA p.L290L AC073834.3_ENST00000357045.4_RNA NM_152275.3 NP_689488.3 Q86WT1 TT30A_HUMAN tetratricopeptide repeat domain 30A 290 NA cilium assembly (GO:0042384)|intraciliary transport (GO:0042073) cilium (GO:0005929)|intraciliary transport particle B (GO:0030992) autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169) CCTGGTTGTGCAGGGTCACAG 0.498 NA T||| 876 0.17492 0.2421 0.0706 5008 , , NA 21231 0.1855 NA 0.0954 False NA ,,, NA NA NA 2504 0.229 NA NA NA NA 0 T 928,3478 731.0+/-410.2 88,752,1363 132 149 143 870 0.3 0.7 2 dbSNP_129 143 682,7918 782.8+/-407.6 32,618,3650 no coding-synonymous TTC30A NM_152275.3 120,1370,5013 TT,TC,CC 7.9302,21.0622,12.3789 290/666 178482560 1610,11396 2203 4300 6503 SO:0001819 synonymous_variant AK024008 CCDS2276.1 2q31.2 2013-01-11 ENSG00000197557 ENSG00000197557 92104 Tetratricopeptide (TTC) repeat domain containing 25853 protein-coding gene gene with protein product NA 12477932 Standard NM_152275 NM_152275 NA Approved FLJ13946 uc002ulo.3 Q86WT1 OTTHUMG00000132528 ENST00000355689.5:c.870G>A chr2.hg19:g.178482560C>T NA A8K8N0|Q8IVP2 hg19 CCDS2276.1 0.02 17.068765 GTGxAGG COVERED NOVEL TTC30A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255728.2 2 40.331598 KEEP 1 0 0 134 4812 CC 1 1 0 - 33 60 1141 0 0 80.287766 370 60 14179 683 ENST00000355689.5 0.081886 1 TTC30A 92104 __UNKNOWN__ __UNKNOWN__ 2 178482698 178482698 __UNKNOWN__ Silent SNP A A G rs3813256 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:178482698A>G ENST00000355689.5 - 1 996 c.732T>C c.(730-732)gtT>gtC p.V244V AC073834.3_ENST00000357045.4_RNA NM_152275.3 NP_689488.3 Q86WT1 TT30A_HUMAN tetratricopeptide repeat domain 30A 244 NA cilium assembly (GO:0042384)|intraciliary transport (GO:0042073) cilium (GO:0005929)|intraciliary transport particle B (GO:0030992) autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169) TCTGATGGAGAACTAAGGTGT 0.517 NA a||| 565 0.112819 0.0613 0.0447 5008 , , NA 20999 0.1855 NA 0.0875 False NA ,,, NA NA NA 2504 0.182 NA NA NA NA 0 A 317,4089 168.0+/-198.9 8,301,1894 103 103 103 732 -5.9 0.5 2 dbSNP_107 103 580,8020 151.9+/-206.6 19,542,3739 no coding-synonymous TTC30A NM_152275.3 27,843,5633 GG,GA,AA 6.7442,7.1947,6.8968 244/666 178482698 897,12109 2203 4300 6503 SO:0001819 synonymous_variant AK024008 CCDS2276.1 2q31.2 2013-01-11 ENSG00000197557 ENSG00000197557 92104 Tetratricopeptide (TTC) repeat domain containing 25853 protein-coding gene gene with protein product NA 12477932 Standard NM_152275 NM_152275 NA Approved FLJ13946 uc002ulo.3 Q86WT1 OTTHUMG00000132528 ENST00000355689.5:c.732T>C chr2.hg19:g.178482698A>G NA A8K8N0|Q8IVP2 hg19 CCDS2276.1 0.02 15.062841 GAGxACT COVERED NOVEL TTC30A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255728.2 5 39.115381 KEEP 0 0 0 130 4041 AA 1 1 0 - 36 60 1345 0 0 101.925305 302 60 10627 565 ENST00000355689.5 0.106509 1 TTC30A 92104 __UNKNOWN__ __UNKNOWN__ 2 178482771 178482771 __UNKNOWN__ Missense_Mutation SNP C C T rs59353759 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:178482771C>T ENST00000355689.5 - 1 923 c.659G>A c.(658-660)cGc>cAc p.R220H AC073834.3_ENST00000357045.4_RNA NM_152275.3 NP_689488.3 Q86WT1 TT30A_HUMAN tetratricopeptide repeat domain 30A 220 NA cilium assembly (GO:0042384)|intraciliary transport (GO:0042073) cilium (GO:0005929)|intraciliary transport particle B (GO:0030992) autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169) AGGATGCTGGCGGATGCCACG 0.542 NA C||| 171 0.0341454 0.0408 0.013 5008 , , NA 21101 0.0109 NA 0.0199 False NA ,,, NA NA NA 2504 0.0787 NA NA NA NA 0 C HIS/ARG 184,4222 119.6+/-157.3 4,176,2023 71 70 70 659 5.8 1 2 dbSNP_129 70 154,8446 73.8+/-136.5 2,150,4148 no missense TTC30A NM_152275.3 29 6,326,6171 TT,TC,CC 1.7907,4.1761,2.5988 benign 220/666 178482771 338,12668 2203 4300 6503 SO:0001583 missense AK024008 CCDS2276.1 2q31.2 2013-01-11 ENSG00000197557 ENSG00000197557 92104 Tetratricopeptide (TTC) repeat domain containing 25853 protein-coding gene gene with protein product NA 12477932 Standard NM_152275 NM_152275 NA Approved FLJ13946 uc002ulo.3 Q86WT1 OTTHUMG00000132528 ENST00000355689.5:c.659G>A chr2.hg19:g.178482771C>T ENSP00000347915:p.Arg220His NA A8K8N0|Q8IVP2 hg19 CCDS2276.1 0.02 12.72672 TGGxGGA COVERED 40 0.018315018315018316 14 0.028455284552845527 7 0.019337016574585635 5 0.008741258741258742 14 0.018469656992084433 C 11.45 1.642016 0.29157 0.041761 0.017907 ENSG00000197557 ENST00000355689 T 0.21543 2.0 5.78 5.78 0.91487 Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1); 0.138754 0.64402 D 0.000006 T 0.05731 0.0150 M 0.71920 2.185 0.51482 D 0.99992 B 0.28512 0.214 B 0.21917 0.037 T 0.01626 -1.1309 10 0.59425 D 0.04 . 9.433 0.38622 0.0:0.8764:0.0:0.1236 rs59353759;rs61997200 220 Q86WT1 TT30A_HUMAN H 220 ENSP00000347915:R220H ENSP00000347915:R220H R - 2 0 TTC30A 178191017 1.000000 0.71417 1.000000 0.80357 0.692000 0.40212 2.932000 0.48940 2.755000 0.94549 0.549000 0.68633 CGC NOVEL TTC30A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255728.2 5 25.577709 KEEP 0 0 0 85 2780 CC 1 1 0 - 28 60 974 0 0 70.025406 280 60 9681 420 ENST00000355689.5 0.090909 1 PDE11A 50940 __UNKNOWN__ __UNKNOWN__ 2 178493126 178493126 __UNKNOWN__ 3'UTR SNP T T C rs111800043 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:178493126T>C ENST00000286063.6 - 0 4128 PDE11A_ENST00000358450.4_3'UTR NM_016953.3 NP_058649.3 Q9HCR9 PDE11_HUMAN phosphodiesterase 11A NA NA blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165) cytosol (GO:0005829)|perikaryon (GO:0043204) 3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02) Caffeine(DB00201)|Tadalafil(DB00820) TCCTATAGAATATGCGTTCTT 0.338 NA Primary Pigmented Nodular Adrenocortical Disease, Familial T||| 181 0.0361422 0.0477 0.0144 5008 , , NA 20029 0.0109 NA 0.0199 False NA ,,, NA NA NA 2504 0.0787 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Familial Cancer Database iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2 AJ251509 CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1 2q31.3 2010-06-22 ENSG00000128655 ENSG00000128655 50940 3.1.4.17 Phosphodiesterases 8773 protein-coding gene gene with protein product 604961 NA 10725373 Standard NM_001077196 NA Approved uc002ulq.3 Q9HCR9 OTTHUMG00000154188 ENST00000286063.6:c.*1009A>G chr2.hg19:g.178493126T>C NA Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45 hg19 CCDS33334.1 0.02 7.274381 GAAxATG COVERED NOVEL PDE11A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000334313.2 0 7.52136 KEEP 0 0 0 25 771 TT 0.999931 0.999931 0 - 16 60 616 0 0 45.74868 165 60 5929 245 ENST00000286063.6 0.088398 1 PDE11A 50940 __UNKNOWN__ __UNKNOWN__ 2 178528641 178528641 __UNKNOWN__ Missense_Mutation SNP G G C rs61306957 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:178528641G>C ENST00000286063.6 - 19 2916 c.2599C>G c.(2599-2601)Cgg>Ggg p.R867G PDE11A_ENST00000449286.2_Missense_Mutation_p.R509G|PDE11A_ENST00000389683.3_Missense_Mutation_p.R423G|PDE11A_ENST00000358450.4_Missense_Mutation_p.R617G|PDE11A_ENST00000409504.1_Missense_Mutation_p.R509G|PDE11A_ENST00000450799.2_Missense_Mutation_p.R58G NM_016953.3 NP_058649.3 Q9HCR9 PDE11_HUMAN phosphodiesterase 11A 867 Catalytic. {ECO:0000250}. NA R -> G (in dbSNP:rs61306957). {ECO:0000269|PubMed:16767104}. blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165) cytosol (GO:0005829)|perikaryon (GO:0043204) 3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02) Caffeine(DB00201)|Tadalafil(DB00820) AGTTGCAACCGAGGCAGTTCA 0.453 NA Primary Pigmented Nodular Adrenocortical Disease, Familial G||| 160 0.0319489 0.0393 0.0115 5008 , , NA 18868 0.0109 NA 0.0199 False NA ,,, NA NA NA 2504 0.0706 NA NA NA NA 0 GRCh37 CM067442 PDE11A M rs61306957 G GLY/ARG,GLY/ARG,GLY/ARG,GLY/ARG 190,4216 122.1+/-159.5 5,180,2018 114 100 104 1267,1849,1525,2599 4.1 1 2 dbSNP_129 104 149,8451 72.3+/-134.9 2,145,4153 yes missense,missense,missense,missense PDE11A NM_001077196.1,NM_001077197.1,NM_001077358.1,NM_016953.3 125,125,125,125 7,325,6171 CC,CG,GG 1.7326,4.3123,2.6065 benign,benign,benign,benign 423/490,617/684,509/576,867/934 178528641 339,12667 2203 4300 6503 SO:0001583 missense Familial Cancer Database iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2 AJ251509 CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1 2q31.3 2010-06-22 ENSG00000128655 ENSG00000128655 50940 3.1.4.17 Phosphodiesterases 8773 protein-coding gene gene with protein product 604961 NA 10725373 Standard NM_001077196 NA Approved uc002ulq.3 Q9HCR9 OTTHUMG00000154188 ENST00000286063.6:c.2599C>G chr2.hg19:g.178528641G>C ENSP00000286063:p.Arg867Gly NA Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45 hg19 CCDS33334.1 0.02 12.054486 ACCxAGG COVERED 38|38 0.0173992673992674|0.0173992673992674 14|14 0.028455284552845527|0.028455284552845527 5|5 0.013812154696132596|0.013812154696132596 5|5 0.008741258741258742|0.008741258741258742 14|14 0.018469656992084433|0.018469656992084433 G|G 10.44|10.44 1.352134|1.352134 0.24512|0.24512 0.043123|0.043123 0.017326|0.017326 ENSG00000128655|ENSG00000128655 ENST00000286063;ENST00000358450;ENST00000450799;ENST00000409504;ENST00000389683;ENST00000449286|ENST00000436700 T;T;T;T;T;T|. 0.76578|. -1.03;-1.03;-1.03;-1.03;-1.03;-1.03|. 6.07|6.07 4.14|4.14 0.48551|0.48551 5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);|. 0.101356|. 0.64402|. D|. 0.000003|. T|T 0.11836|0.11836 0.0288|0.0288 N|N 0.12569|0.12569 0.235|0.235 0.41027|0.41027 D|D 0.985121|0.985121 B;B|. 0.06786|. 0.001;0.001|. B;B|. 0.08055|. 0.001;0.003|. T|T 0.05767|0.05767 -1.0865|-1.0865 10|5 0.23302|. T|. 0.38|. .|. 11.939|11.939 0.52890|0.52890 0.0:0.1083:0.6827:0.2089|0.0:0.1083:0.6827:0.2089 rs61306957|rs61306957 617;867|. Q9HCR9-2;Q9HCR9|. .;PDE11_HUMAN|. G|W 867;617;58;509;423;509|69 ENSP00000286063:R867G;ENSP00000351232:R617G;ENSP00000387964:R58G;ENSP00000386539:R509G;ENSP00000374333:R423G;ENSP00000390599:R509G|. ENSP00000286063:R867G|. R|S -|- 1|2 2|0 PDE11A|PDE11A 178236887|178236887 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.994000|0.994000 0.84299|0.84299 2.923000|2.923000 0.48868|0.48868 1.529000|1.529000 0.49120|0.49120 0.655000|0.655000 0.94253|0.94253 CGG|TCG NOVEL PDE11A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000334313.2 0 18.058357 KEEP 0 0 0 60 2101 GG 1 1 0 - 27 60 1012 0 0 75.389707 256 60 9416 440 ENST00000286063.6 0.095406 1 PDE11A 50940 __UNKNOWN__ __UNKNOWN__ 2 178545736 178545736 __UNKNOWN__ Intron SNP T T C rs9677333 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:178545736T>C ENST00000286063.6 - 16 2663 PDE11A_ENST00000449286.2_Intron|PDE11A_ENST00000389683.3_Intron|PDE11A_ENST00000358450.4_Intron|PDE11A_ENST00000409504.1_Intron NM_016953.3 NP_058649.3 Q9HCR9 PDE11_HUMAN phosphodiesterase 11A NA NA blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165) cytosol (GO:0005829)|perikaryon (GO:0043204) 3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02) Caffeine(DB00201)|Tadalafil(DB00820) ATAAGACCACTTGAACCAAGT 0.328 NA Primary Pigmented Nodular Adrenocortical Disease, Familial C||| 696 0.138978 0.18 0.0591 5008 , , NA 18566 0.1716 NA 0.1014 False NA ,,, NA NA NA 2504 0.1452 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2 AJ251509 CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1 2q31.3 2010-06-22 ENSG00000128655 ENSG00000128655 50940 3.1.4.17 Phosphodiesterases 8773 protein-coding gene gene with protein product 604961 NA 10725373 Standard NM_001077196 NA Approved uc002ulq.3 Q9HCR9 OTTHUMG00000154188 ENST00000286063.6:c.2346-105A>G chr2.hg19:g.178545736T>C NA Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45 hg19 CCDS33334.1 0.02 -0.377186 CACxTGA COVERED NOVEL PDE11A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000334313.2 0 2.708146 KEEP 0 0 0 9 293 TT 0.99254 0.902287 0 - 4 60 157 0 0 11.830036 39 60 1378 60 ENST00000286063.6 0.093023 0.909069 PDE11A 50940 __UNKNOWN__ __UNKNOWN__ 2 178633945 178633945 __UNKNOWN__ Intron SNP A A C rs34543540 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:178633945A>C ENST00000286063.6 - 10 2106 PDE11A_ENST00000497003.1_Intron|PDE11A_ENST00000449286.2_Intron|PDE11A_ENST00000389683.3_Intron|PDE11A_ENST00000358450.4_Intron|PDE11A_ENST00000409504.1_Intron NM_016953.3 NP_058649.3 Q9HCR9 PDE11_HUMAN phosphodiesterase 11A NA NA blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165) cytosol (GO:0005829)|perikaryon (GO:0043204) 3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02) Caffeine(DB00201)|Tadalafil(DB00820) CTAGTCCTCCAGCTCCCAATG 0.398 NA Primary Pigmented Nodular Adrenocortical Disease, Familial A||| 319 0.0636981 0.0068 0.0663 5008 , , NA 17642 0.0079 NA 0.1123 False NA ,,, NA NA NA 2504 0.1462 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2 AJ251509 CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1 2q31.3 2010-06-22 ENSG00000128655 ENSG00000128655 50940 3.1.4.17 Phosphodiesterases 8773 protein-coding gene gene with protein product 604961 NA 10725373 Standard NM_001077196 NA Approved uc002ulq.3 Q9HCR9 OTTHUMG00000154188 ENST00000286063.6:c.1788+105T>G chr2.hg19:g.178633945A>C NA Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45 hg19 CCDS33334.1 0.02 4.420018 TCCxGCT COVERED NOVEL PDE11A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000334313.2 1 3.912189 KEEP 0 0 0 13 428 AA 0.994391 0.994383 0 - 13 60 444 0 0 33.307363 96 60 3574 145 ENST00000286063.6 0.119266 0.999992 PDE11A 50940 __UNKNOWN__ __UNKNOWN__ 2 178681716 178681716 __UNKNOWN__ Intron SNP G G C rs1438059 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:178681716G>C ENST00000286063.6 - 9 1962 PDE11A_ENST00000497003.1_Intron|PDE11A_ENST00000449286.2_Intron|PDE11A_ENST00000389683.3_Intron|PDE11A_ENST00000358450.4_Intron|PDE11A_ENST00000409504.1_Intron NM_016953.3 NP_058649.3 Q9HCR9 PDE11_HUMAN phosphodiesterase 11A NA NA blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165) cytosol (GO:0005829)|perikaryon (GO:0043204) 3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02) Caffeine(DB00201)|Tadalafil(DB00820) TATGAAAGCAGGCAGCCACCA 0.388 NA Primary Pigmented Nodular Adrenocortical Disease, Familial G||| 2107 0.420727 0.025 0.6196 5008 , , NA 19091 0.6062 NA 0.502 False NA ,,, NA NA NA 2504 0.5399 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2 AJ251509 CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1 2q31.3 2010-06-22 ENSG00000128655 ENSG00000128655 50940 3.1.4.17 Phosphodiesterases 8773 protein-coding gene gene with protein product 604961 NA 10725373 Standard NM_001077196 NA Approved uc002ulq.3 Q9HCR9 OTTHUMG00000154188 ENST00000286063.6:c.1645-68C>G chr2.hg19:g.178681716G>C NA Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45 hg19 CCDS33334.1 0.02 4.501811 GCAxGCA COVERED NOVEL PDE11A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000334313.2 2 3.009599 KEEP 0 0 0 10 339 GG 0.992708 0.992702 0 - 12 60 406 0 0 29.817648 99 60 3568 127 ENST00000286063.6 0.108108 0.999994 PDE11A 50940 __UNKNOWN__ __UNKNOWN__ 2 178740463 178740463 __UNKNOWN__ Intron SNP G G A rs182175184 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:178740463G>A ENST00000286063.6 - 5 1685 PDE11A_ENST00000497003.1_Intron|PDE11A_ENST00000449286.2_Intron|PDE11A_ENST00000389683.3_Intron|PDE11A_ENST00000358450.4_Intron|PDE11A_ENST00000409504.1_Intron NM_016953.3 NP_058649.3 Q9HCR9 PDE11_HUMAN phosphodiesterase 11A NA NA blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165) cytosol (GO:0005829)|perikaryon (GO:0043204) 3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02) Caffeine(DB00201)|Tadalafil(DB00820) ATACAGAAGAGTCACGATATT 0.383 NA Primary Pigmented Nodular Adrenocortical Disease, Familial G||| 6 0.00119808 0.0 0.0 5008 , , NA 17312 0.006 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2 AJ251509 CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1 2q31.3 2010-06-22 ENSG00000128655 ENSG00000128655 50940 3.1.4.17 Phosphodiesterases 8773 protein-coding gene gene with protein product 604961 NA 10725373 Standard NM_001077196 NA Approved uc002ulq.3 Q9HCR9 OTTHUMG00000154188 ENST00000286063.6:c.1367+122C>T chr2.hg19:g.178740463G>A NA Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45 hg19 CCDS33334.1 0.02 12.358126 AGAxTCA COVERED NOVEL PDE11A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000334313.2 2 8.427756 KEEP 0 0 0 28 1012 GG 0.999997 0.999997 0 - 30 60 1055 0 0 75.366471 320 60 11996 384 ENST00000286063.6 0.085714 1 PDE11A 50940 __UNKNOWN__ __UNKNOWN__ 2 178861737 178861737 __UNKNOWN__ Intron SNP A A G rs71423537 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:178861737A>G ENST00000286063.6 - 2 1389 PDE11A_ENST00000358450.4_Intron|AC011998.1_ENST00000457053.1_RNA NM_016953.3 NP_058649.3 Q9HCR9 PDE11_HUMAN phosphodiesterase 11A NA NA blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165) cytosol (GO:0005829)|perikaryon (GO:0043204) 3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02) Caffeine(DB00201)|Tadalafil(DB00820) TATCACTGTGATTTTACCTTG 0.303 NA Primary Pigmented Nodular Adrenocortical Disease, Familial G||| 207 0.0413339 0.0045 0.0259 5008 , , NA 19308 0.0089 NA 0.0835 False NA ,,, NA NA NA 2504 0.092 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2 AJ251509 CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1 2q31.3 2010-06-22 ENSG00000128655 ENSG00000128655 50940 3.1.4.17 Phosphodiesterases 8773 protein-coding gene gene with protein product 604961 NA 10725373 Standard NM_001077196 NA Approved uc002ulq.3 Q9HCR9 OTTHUMG00000154188 ENST00000286063.6:c.1071+17291T>C chr2.hg19:g.178861737A>G NA Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45 hg19 CCDS33334.1 0.02 11.412326 GTGxTTT COVERED NOVEL PDE11A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000334313.2 1 6.9178 KEEP 0 0 0 23 729 AA 0.999892 0.999892 0 - 34 60 1223 0 0 93.313294 253 60 9222 367 ENST00000286063.6 0.118467 1 OSBPL6 114880 __UNKNOWN__ __UNKNOWN__ 2 179261410 179261410 __UNKNOWN__ 3'UTR SNP T T A rs117692384 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:179261410T>A ENST00000190611.4 + 0 4305 NM_032523.3 NP_115912.1 Q9BZF3 OSBL6_HUMAN oxysterol binding protein-like 6 NA NA lipid transport (GO:0006869) cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886) lipid binding (GO:0008289) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335) CTATGCAAAATCATATTTCAA 0.343 NA T||| 46 0.0091853 0.0 0.0 5008 , , NA 20473 0.0456 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF392448 CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1 2q32.1 2008-05-27 ENSG00000079156 ENSG00000079156 114880 Oxysterol binding proteins 16388 protein-coding gene gene with protein product OSBP-related protein 6 606734 NA 11483621 Standard NM_032523 NM_001201480 NA Approved ORP6 uc002uly.3 Q9BZF3 OTTHUMG00000132579 ENST00000190611.4:c.*1124T>A chr2.hg19:g.179261410T>A NA B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1 hg19 CCDS2277.1 0.02 5.909201 AAAxCAT COVERED NOVEL OSBPL6-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000334393.2 4 8.72622 KEEP 0 0 0 29 918 TT 0.999997 0.999997 0 + 12 60 421 0 0 29.123451 154 60 5463 209 ENST00000190611.4 0.072289 1 PRKRA 8575 __UNKNOWN__ __UNKNOWN__ 2 179315757 179315757 __UNKNOWN__ Start_Codon_SNP SNP T T G rs9406386 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:179315757T>G ENST00000325748.4 - 1 201 c.1A>C c.(1-3)Atg>Ctg p.M1L PRKRA_ENST00000438687.3_5'UTR|PRKRA_ENST00000470200.1_Intron NM_003690.4 NP_003681.1 O75569 PRKRA_HUMAN protein kinase, interferon-inducible double stranded RNA dependent activator 1 Sufficient for self-association and interaction with TARBP2. NA cellular response to oxidative stress (GO:0034599)|gene expression (GO:0010467)|immune response (GO:0006955)|middle ear morphogenesis (GO:0042474)|negative regulation of cell proliferation (GO:0008285)|outer ear morphogenesis (GO:0042473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|production of siRNA involved in RNA interference (GO:0030422)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|skeletal system morphogenesis (GO:0048705) cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020) enzyme activator activity (GO:0008047)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803) central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2) 19 OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265) CTCTGGGACATGGCGAGAAGG 0.746 NA NA NA NA NA NA NA NA NA NA Melanoma(200;68 3001 23825 48764) NA 0 6 9 8 NA NA 2 NA 179315757 1711 3612 5323 SO:0001582 initiator_codon_variant AF072860 CCDS2279.1, CCDS46460.1, CCDS46461.1 2q31.2 2009-08-25 ENSG00000180228 ENSG00000180228 8575 9438 protein-coding gene gene with protein product protein activator of the interferon-induced protein kinase 603424 NA 9687506, 10336432 Standard NM_003690 NM_003690 NA Approved PACT, RAX, HSD14, DYT16 uc002umf.3 O75569 OTTHUMG00000132576 ENST00000325748.4:c.1A>C chr2.hg19:g.179315757T>G ENSP00000318176:p.Met1Leu NA A8K3I6|Q53G24|Q6X7T5|Q8NDK4 hg19 CCDS2279.1 0.02 2.089254 ACAxGGC COVERED 354 0.1620879120879121 36 0.07317073170731707 85 0.23480662983425415 70 0.12237762237762238 163 0.21503957783641162 T 17.06 3.292620 0.59976 . . ENSG00000180228 ENST00000325748 T 0.70164 -0.46 4.45 3.29 0.37713 . 0.824018 0.10788 N 0.634052 T 0.00039 0.0001 . . . 0.80722 D 1 B 0.02656 0.0 B 0.04013 0.001 T 0.04635 -1.0937 9 0.87932 D 0 . 6.5676 0.22521 0.0:0.1104:0.0:0.8896 rs9406386 1 O75569 PRKRA_HUMAN L 1 ENSP00000318176:M1L ENSP00000318176:M1L M - 1 0 PRKRA 179024003 0.994000 0.37717 0.921000 0.36526 0.909000 0.53808 1.278000 0.33179 0.853000 0.35312 0.338000 0.21704 ATG NOVEL PRKRA-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255782.2 10 34.345678 KEEP 0 2 68 138 4146 TT 1 0.999862 0 Missense_Mutation - 7 60 253 0 0 17.961082 83 60 2928 328 ENST00000325748.4 0.077778 0.999862 PRKRA 8575 __UNKNOWN__ __UNKNOWN__ 2 179315781 179315781 __UNKNOWN__ 5'UTR SNP C C T rs62176113 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:179315781C>T ENST00000325748.4 - 0 177 PRKRA_ENST00000438687.3_5'UTR|PRKRA_ENST00000470200.1_Intron NM_003690.4 NP_003681.1 O75569 PRKRA_HUMAN protein kinase, interferon-inducible double stranded RNA dependent activator NA NA cellular response to oxidative stress (GO:0034599)|gene expression (GO:0010467)|immune response (GO:0006955)|middle ear morphogenesis (GO:0042474)|negative regulation of cell proliferation (GO:0008285)|outer ear morphogenesis (GO:0042473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|production of siRNA involved in RNA interference (GO:0030422)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|skeletal system morphogenesis (GO:0048705) cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020) enzyme activator activity (GO:0008047)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803) central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2) 19 OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265) GGCTCAGCGGCTGGAGGAAGA 0.741 NA NA NA NA NA NA NA NA NA NA Melanoma(200;68 3001 23825 48764) NA 0 5 7 6 NA NA 2 NA 179315781 1661 3522 5183 SO:0001623 5_prime_UTR_variant AF072860 CCDS2279.1, CCDS46460.1, CCDS46461.1 2q31.2 2009-08-25 ENSG00000180228 ENSG00000180228 8575 9438 protein-coding gene gene with protein product protein activator of the interferon-induced protein kinase 603424 NA 9687506, 10336432 Standard NM_003690 NM_003690 NA Approved PACT, RAX, HSD14, DYT16 uc002umf.3 O75569 OTTHUMG00000132576 ENST00000325748.4:c.-24G>A chr2.hg19:g.179315781C>T NA A8K3I6|Q53G24|Q6X7T5|Q8NDK4 hg19 CCDS2279.1 0.02 1.561061 CGGxTGG COVERED NOVEL PRKRA-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255782.2 10 31.573245 KEEP 0 2 65 128 4524 CC 1 0.999487 0 - 7 60 227 0 0 15.660043 75 60 2758 328 ENST00000325748.4 0.085366 0.999487 PRKRA 8575 __UNKNOWN__ __UNKNOWN__ 2 179315890 179315890 __UNKNOWN__ 5'UTR SNP G G C rs80197731 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:179315890G>C ENST00000325748.4 - 0 68 PRKRA_ENST00000470200.1_Intron NM_003690.4 NP_003681.1 O75569 PRKRA_HUMAN protein kinase, interferon-inducible double stranded RNA dependent activator NA NA cellular response to oxidative stress (GO:0034599)|gene expression (GO:0010467)|immune response (GO:0006955)|middle ear morphogenesis (GO:0042474)|negative regulation of cell proliferation (GO:0008285)|outer ear morphogenesis (GO:0042473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|production of siRNA involved in RNA interference (GO:0030422)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|skeletal system morphogenesis (GO:0048705) cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020) enzyme activator activity (GO:0008047)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803) central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2) 19 OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265) TGCTTGCGTTGCTCCAGCGAG 0.756 NA NA NA NA NA NA NA NA NA NA Melanoma(200;68 3001 23825 48764) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF072860 CCDS2279.1, CCDS46460.1, CCDS46461.1 2q31.2 2009-08-25 ENSG00000180228 ENSG00000180228 8575 9438 protein-coding gene gene with protein product protein activator of the interferon-induced protein kinase 603424 NA 9687506, 10336432 Standard NM_003690 NM_003690 NA Approved PACT, RAX, HSD14, DYT16 uc002umf.3 O75569 OTTHUMG00000132576 ENST00000325748.4:c.-133C>G chr2.hg19:g.179315890G>C NA A8K3I6|Q53G24|Q6X7T5|Q8NDK4 hg19 CCDS2279.1 0.02 -0.307038 GTTxCTC COVERED NOVEL PRKRA-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255782.2 4 5.717812 KEEP 0 0 0 19 650 GG 0.99986 0.800133 0 - 3 60 105 0 0 7.48641 32 60 1176 59 ENST00000325748.4 0.085714 0.800245 TTN 7273 __UNKNOWN__ __UNKNOWN__ 2 179393111 179393111 __UNKNOWN__ Missense_Mutation SNP A A G rs16866378 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:179393111A>G ENST00000589042.1 - 361 107491 c.107267T>C c.(107266-107268)gTa>gCa p.V35756A TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V33188A|TTN_ENST00000342175.6_Missense_Mutation_p.V26883A|TTN_ENST00000591111.1_Missense_Mutation_p.V34115A|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V26691A|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V26816A|TTN-AS1_ENST00000585487.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 34115 NA adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941) condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018) actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AAGGGAGTATACATTTCTGGA 0.398 NA A||| 461 0.0920527 0.1354 0.0403 5008 , , NA 19459 0.1736 NA 0.0318 False NA ,,, NA NA NA 2504 0.0481 NA NA NA NA 0 A ALA/VAL,ALA/VAL,ALA/VAL,ALA/VAL 443,3287 29,385,1451 113 102 105 80648,80447,99563,80072 1.2 0 2 dbSNP_123 105 170,8040 4,162,3939 yes missense,missense,missense,missense TTN NM_133437.3,NM_133432.3,NM_133378.4,NM_003319.4 64,64,64,64 33,547,5390 GG,GA,AA 2.0706,11.8767,5.134 benign,benign,benign,benign 26883/27119,26816/27052,33188/33424,26691/26927 179393111 613,11327 1865 4105 5970 SO:0001583 missense X90568 CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1 2q31 2014-09-17 2004-02-13 ENSG00000155657 ENSG00000155657 7273 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing 12403 protein-coding gene gene with protein product 188840 cardiomyopathy, dilated 1G (autosomal dominant) CMD1G NA 2129545, 10051295 Standard NM_133378 NM_003319 NA Approved CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5 uc031rqd.1 Q8WZ42 OTTHUMG00000154448 ENST00000589042.1:c.107267T>C chr2.hg19:g.179393111A>G ENSP00000467141:p.Val35756Ala NA A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9 hg19 CCDS59435.1 0.02 14.344878 TATxCAT COVERED 205 0.09386446886446886 68 0.13821138211382114 15 0.04143646408839779 100 0.17482517482517482 22 0.029023746701846966 A 7.782 0.709636 0.15239 0.118767 0.020706 ENSG00000155657 ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127 T;T;T;T 0.66099 -0.19;-0.19;-0.19;-0.19 5.25 1.24 0.21308 Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1); . . . . T 0.00210 0.0006 L 0.45744 1.44 0.80722 P 0.0 B;B;B;B;B 0.06786 0.0;0.0;0.0;0.001;0.001 B;B;B;B;B 0.09377 0.001;0.001;0.003;0.004;0.002 T 0.12941 -1.0528 8 0.87932 D 0 . 9.8416 0.41002 0.6746:0.0:0.3254:0.0 rs16866378;rs52835227;rs16866378 26691;26816;26883;34115;33188 D3DPF9;E7EQE6;E7ET18;Q8WZ42;A6NKB1 .;.;.;TITIN_HUMAN;. A 33188;26691;26883;26816;26688 ENSP00000343764:V33188A;ENSP00000434586:V26691A;ENSP00000340554:V26883A;ENSP00000352154:V26816A ENSP00000340554:V26883A V - 2 0 TTN 179101357 0.258000 0.24033 0.021000 0.16686 0.083000 0.17756 4.288000 0.59007 0.410000 0.25675 0.454000 0.30748 GTA NOVEL TTN-018 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000450680.2 2 19.856256 KEEP 0 0 0 66 2011 AA 1 1 0 - 23 60 838 0 0 59.142448 294 60 10440 469 ENST00000589042.1 0.072555 1 TTN 7273 __UNKNOWN__ __UNKNOWN__ 2 179395560 179395560 __UNKNOWN__ Missense_Mutation SNP G G A rs16866380 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:179395560G>A ENST00000589042.1 - 358 106006 c.105782C>T c.(105781-105783)cCg>cTg p.P35261L TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P32693L|TTN_ENST00000342175.6_Missense_Mutation_p.P26388L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P33620L|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P26196L|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P26321L|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585487.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 33620 NA adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941) condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018) actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TACGGCTTTCGGGTGAGAAGG 0.498 NA G||| 397 0.0792732 0.0885 0.0403 5008 , , NA 17438 0.1716 NA 0.0318 False NA ,,, NA NA NA 2504 0.0481 NA NA NA NA 0 G LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO 260,3546 9,242,1652 126 126 126 79163,78962,98078,78587 5 0.9 2 dbSNP_123 126 171,8049 4,163,3943 yes missense,missense,missense,missense TTN NM_133437.3,NM_133432.3,NM_133378.4,NM_003319.4 98,98,98,98 13,405,5595 AA,AG,GG 2.0803,6.8313,3.5839 benign,benign,benign,benign 26388/27119,26321/27052,32693/33424,26196/26927 179395560 431,11595 1903 4110 6013 SO:0001583 missense X90568 CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1 2q31 2014-09-17 2004-02-13 ENSG00000155657 ENSG00000155657 7273 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing 12403 protein-coding gene gene with protein product 188840 cardiomyopathy, dilated 1G (autosomal dominant) CMD1G NA 2129545, 10051295 Standard NM_133378 NM_003319 NA Approved CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5 uc031rqd.1 Q8WZ42 OTTHUMG00000154448 ENST00000589042.1:c.105782C>T chr2.hg19:g.179395560G>A ENSP00000467141:p.Pro35261Leu NA A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9 hg19 CCDS59435.1 0.02 11.532381 TTCxGGT COVERED 178 0.0815018315018315 41 0.08333333333333333 15 0.04143646408839779 100 0.17482517482517482 22 0.029023746701846966 G 14.57 2.573687 0.45902 0.068313 0.020803 ENSG00000155657 ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127 T;T;T;T 0.69175 -0.38;-0.12;-0.14;-0.13 4.99 4.99 0.66335 Ribonuclease H-like (1); . . . . T 0.00241 0.0007 L 0.32530 0.975 0.20764 P 0.999855559 B;B;B;B 0.32731 0.382;0.382;0.382;0.382 B;B;B;B 0.17098 0.017;0.017;0.017;0.017 T 0.17776 -1.0358 8 0.87932 D 0 . 18.2867 0.90117 0.0:0.0:1.0:0.0 rs16866380;rs52806480;rs16866380 26196;26321;26388;33620 D3DPF9;E7EQE6;E7ET18;Q8WZ42 .;.;.;TITIN_HUMAN L 32693;26196;26388;26321;26193 ENSP00000343764:P32693L;ENSP00000434586:P26196L;ENSP00000340554:P26388L;ENSP00000352154:P26321L ENSP00000340554:P26388L P - 2 0 TTN 179103806 0.891000 0.30450 0.934000 0.37439 0.694000 0.40290 5.487000 0.66863 2.321000 0.78463 0.455000 0.32223 CCG NOVEL TTN-018 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000450680.2 5 15.649453 KEEP 0 0 0 52 1747 GG 1 1 0 - 36 60 1311 0 0 100.647116 261 60 9038 399 ENST00000589042.1 0.121212 1 TTN 7273 __UNKNOWN__ __UNKNOWN__ 2 179395760 179395760 __UNKNOWN__ Silent SNP G G A rs3829749 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:179395760G>A ENST00000589042.1 - 358 105806 c.105582C>T c.(105580-105582)tcC>tcT p.S35194S TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Silent_p.S32626S|TTN_ENST00000342175.6_Silent_p.S26321S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000591111.1_Silent_p.S33553S|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000460472.2_Silent_p.S26129S|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.S26254S|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585487.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 33553 NA adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941) condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018) actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGCCCTCATCGGAAGCCTGGA 0.483 NA G||| 457 0.091254 0.1331 0.0403 5008 , , NA 20743 0.1726 NA 0.0318 False NA ,,, NA NA NA 2504 0.0481 NA NA NA NA 0 G ,,, 442,3478 29,384,1547 271 261 264 78387,97878,78762,78963 -8 0.9 2 dbSNP_107 264 170,8104 4,162,3971 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous TTN NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3 ,,, 33,546,5518 AA,AG,GG 2.0546,11.2755,5.0189 ,,, 26129/26927,32626/33424,26254/27052,26321/27119 179395760 612,11582 1960 4137 6097 SO:0001819 synonymous_variant X90568 CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1 2q31 2014-09-17 2004-02-13 ENSG00000155657 ENSG00000155657 7273 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing 12403 protein-coding gene gene with protein product 188840 cardiomyopathy, dilated 1G (autosomal dominant) CMD1G NA 2129545, 10051295 Standard NM_133378 NM_003319 NA Approved CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5 uc031rqd.1 Q8WZ42 OTTHUMG00000154448 ENST00000589042.1:c.105582C>T chr2.hg19:g.179395760G>A NA A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9 hg19 CCDS59435.1 0.02 21.276669 ATCxGAA COVERED NOVEL TTN-018 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000450680.2 2 26.484588 KEEP 0 0 0 88 2996 GG 1 1 0 - 30 60 1134 0 0 78.673919 462 60 15898 715 ENST00000589042.1 0.060976 1 TTN 7273 __UNKNOWN__ __UNKNOWN__ 2 179395958 179395958 __UNKNOWN__ Silent SNP T T C rs3813250 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:179395958T>C ENST00000589042.1 - 358 105608 c.105384A>G c.(105382-105384)gcA>gcG p.A35128A TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Silent_p.A32560A|TTN_ENST00000342175.6_Silent_p.A26255A|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000591111.1_Silent_p.A33487A|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000460472.2_Silent_p.A26063A|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.A26188A|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585487.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 33487 NA adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941) condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018) actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GAATTCTTGCTGCCAAAGTCG 0.463 NA C||| 2545 0.508187 0.5681 0.4049 5008 , , NA 20546 0.7123 NA 0.2535 False NA ,,, NA NA NA 2504 0.5521 NA NA NA NA 0 C ,,, 2024,1820 550,924,448 158 169 166 78189,97680,78564,78765 -0.2 0.5 2 dbSNP_107 166 1845,6423 194,1457,2483 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous TTN NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3 ,,, 744,2381,2931 CC,CT,TT 22.3149,47.3465,31.9435 ,,, 26063/26927,32560/33424,26188/27052,26255/27119 179395958 3869,8243 1922 4134 6056 SO:0001819 synonymous_variant X90568 CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1 2q31 2014-09-17 2004-02-13 ENSG00000155657 ENSG00000155657 7273 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing 12403 protein-coding gene gene with protein product 188840 cardiomyopathy, dilated 1G (autosomal dominant) CMD1G NA 2129545, 10051295 Standard NM_133378 NM_003319 NA Approved CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5 uc031rqd.1 Q8WZ42 OTTHUMG00000154448 ENST00000589042.1:c.105384A>G chr2.hg19:g.179395958T>C NA A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9 hg19 CCDS59435.1 0.02 19.733821 TGCxGCC COVERED NOVEL TTN-018 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000450680.2 2 24.673868 KEEP 0 0 0 82 2613 TT 1 1 0 - 40 60 1352 0 0 94.75749 434 60 16204 696 ENST00000589042.1 0.084388 1 TTN 7273 __UNKNOWN__ __UNKNOWN__ 2 179397436 179397436 __UNKNOWN__ Missense_Mutation SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:179397436G>A ENST00000589042.1 - 358 104130 c.103906C>T c.(103906-103908)Cgc>Tgc p.R34636C TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R32068C|TTN_ENST00000342175.6_Missense_Mutation_p.R25763C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R32995C|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R25571C|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R25696C|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585487.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 32995 NA adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941) condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018) actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTACGCCGGCGGGCTGGTCTC 0.458 NA NA NA NA NA NA NA NA NA NA NA 0 67 64 65 NA NA 2 NA 179397436 1933 4123 6056 SO:0001583 missense X90568 CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1 2q31 2014-09-17 2004-02-13 ENSG00000155657 ENSG00000155657 7273 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing 12403 protein-coding gene gene with protein product 188840 cardiomyopathy, dilated 1G (autosomal dominant) CMD1G NA 2129545, 10051295 Standard NM_133378 NM_003319 NA Approved CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5 uc031rqd.1 Q8WZ42 OTTHUMG00000154448 ENST00000589042.1:c.103906C>T chr2.hg19:g.179397436G>A ENSP00000467141:p.Arg34636Cys NA A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9 hg19 CCDS59435.1 0.02 9.959527 GGCxGGC COVERED . . . . . . . . . . G 16.47 3.131420 0.56828 . . ENSG00000155657 ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127 T;T;T;T 0.69435 -0.4;-0.17;-0.19;-0.2 5.95 5.05 0.67936 Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1); . . . . T 0.69931 0.3166 N 0.14661 0.345 0.54753 D 0.999983 D;D;D;D 0.89917 1.0;1.0;1.0;1.0 D;D;D;D 0.83275 0.996;0.996;0.996;0.996 T 0.76323 -0.3001 9 0.87932 D 0 . 16.0364 0.80631 0.0:0.0:0.8645:0.1355 . 25571;25696;25763;32995 D3DPF9;E7EQE6;E7ET18;Q8WZ42 .;.;.;TITIN_HUMAN C 32068;25571;25763;25696;25568 ENSP00000343764:R32068C;ENSP00000434586:R25571C;ENSP00000340554:R25763C;ENSP00000352154:R25696C ENSP00000340554:R25763C R - 1 0 TTN 179105682 1.000000 0.71417 1.000000 0.80357 0.989000 0.77384 4.348000 0.59379 1.476000 0.48215 0.563000 0.77884 CGC NOVEL TTN-018 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000450680.2 6 11.436506 KEEP 0 0 0 38 1298 GG 1 1 0 - 9 60 328 0 0 19.78057 274 60 9281 372 ENST00000589042.1 0.031802 1 TTN 7273 __UNKNOWN__ __UNKNOWN__ 2 179398509 179398509 __UNKNOWN__ Missense_Mutation SNP C C A rs3731752 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:179398509C>A ENST00000589042.1 - 358 103057 c.102833G>T c.(102832-102834)gGa>gTa p.G34278V TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G31710V|TTN_ENST00000342175.6_Missense_Mutation_p.G25405V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G32637V|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G25213V|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G25338V|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585487.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 32637 Ig-like 152. NA adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941) condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018) actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TATAGTTACTCCAAACCGGAC 0.423 NA C||| 391 0.0780751 0.0847 0.0403 5008 , , NA 21817 0.1716 NA 0.0318 False NA ,,, NA NA NA 2504 0.047 NA NA NA NA 0 C VAL/GLY,VAL/GLY,VAL/GLY,VAL/GLY 245,3561 8,229,1666 97 89 92 75638,95129,76013,76214 5.6 1 2 dbSNP_107 92 163,8059 4,155,3952 yes missense,missense,missense,missense TTN NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3 109,109,109,109 12,384,5618 AA,AC,CC 1.9825,6.4372,3.3921 probably-damaging,probably-damaging,probably-damaging,probably-damaging 25213/26927,31710/33424,25338/27052,25405/27119 179398509 408,11620 1903 4111 6014 SO:0001583 missense X90568 CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1 2q31 2014-09-17 2004-02-13 ENSG00000155657 ENSG00000155657 7273 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing 12403 protein-coding gene gene with protein product 188840 cardiomyopathy, dilated 1G (autosomal dominant) CMD1G NA 2129545, 10051295 Standard NM_133378 NM_003319 NA Approved CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5 uc031rqd.1 Q8WZ42 OTTHUMG00000154448 ENST00000589042.1:c.102833G>T chr2.hg19:g.179398509C>A ENSP00000467141:p.Gly34278Val NA A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9 hg19 CCDS59435.1 0.02 14.871713 ACTxCAA COVERED 175 0.08012820512820513 38 0.07723577235772358 15 0.04143646408839779 100 0.17482517482517482 22 0.029023746701846966 C 15.09 2.730452 0.48939 0.064372 0.019825 ENSG00000155657 ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127 T;T;T;T 0.66815 -0.23;-0.23;-0.23;-0.23 5.6 5.6 0.85130 Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Protein kinase-like domain (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1); . . . . T 0.00300 0.0009 N 0.01874 -0.695 0.09310 P 0.9999999839552 D;D;D;D 0.76494 0.999;0.999;0.999;0.999 D;D;D;D 0.73380 0.98;0.98;0.98;0.98 T 0.51647 -0.8679 8 0.87932 D 0 . 13.8517 0.63501 0.0:0.9246:0.0:0.0754 rs3731752;rs52831571;rs57847880;rs3731752 25213;25338;25405;32637 D3DPF9;E7EQE6;E7ET18;Q8WZ42 .;.;.;TITIN_HUMAN V 31710;25213;25405;25338;25210 ENSP00000343764:G31710V;ENSP00000434586:G25213V;ENSP00000340554:G25405V;ENSP00000352154:G25338V ENSP00000340554:G25405V G - 2 0 TTN 179106755 1.000000 0.71417 1.000000 0.80357 0.971000 0.66376 7.794000 0.85869 2.641000 0.89580 0.491000 0.48974 GGA NOVEL TTN-018 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000450680.2 3 23.174045 KEEP 0 0 0 77 2690 CC 1 1 0 - 32 60 1078 0 0 76.148775 338 60 12518 527 ENST00000589042.1 0.086486 1 TTN 7273 __UNKNOWN__ __UNKNOWN__ 2 179406003 179406003 __UNKNOWN__ Intron SNP C C A rs3731750 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:179406003C>A ENST00000589042.1 - 350 98020 TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000586831.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin NA NA adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941) condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018) actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TACAAAATGTCCTTACCAATT 0.363 NA A||| 2527 0.504593 0.5605 0.402 5008 , , NA 20236 0.7133 NA 0.2485 False NA ,,, NA NA NA 2504 0.5501 NA NA NA NA 0 A ,,, 1837,1841 479,879,481 45 41 42 ,,, 3.3 0.1 2 dbSNP_107 42 1684,6328 175,1334,2497 no intron,intron,intron,intron TTN NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3 ,,, 654,2213,2978 AA,AC,CC 21.0185,49.9456,30.1198 ,,, ,,, 179406003 3521,8169 1839 4006 5845 SO:0001627 intron_variant X90568 CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1 2q31 2014-09-17 2004-02-13 ENSG00000155657 ENSG00000155657 7273 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing 12403 protein-coding gene gene with protein product 188840 cardiomyopathy, dilated 1G (autosomal dominant) CMD1G NA 2129545, 10051295 Standard NM_133378 NM_003319 NA Approved CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5 uc031rqd.1 Q8WZ42 OTTHUMG00000154448 ENST00000589042.1:c.97795+5G>T chr2.hg19:g.179406003C>A NA A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9 hg19 CCDS59435.1 0.02 4.144282 TGTxCTT COVERED NOVEL TTN-018 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000450680.2 0 6.921836 KEEP 0 0 0 23 781 CC 0.999892 0.999892 0 - 12 60 402 0 0 28.600746 117 60 4358 177 ENST00000589042.1 0.093023 1 TTN 7273 __UNKNOWN__ __UNKNOWN__ 2 179411665 179411665 __UNKNOWN__ Intron SNP A A G rs2288327 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:179411665A>G ENST00000589042.1 - 341 94747 TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000586831.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin NA NA adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941) condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018) actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTTAAAATATACCACTCTGAG 0.388 NA A||| 1640 0.327476 0.289 0.1988 5008 , , NA 24149 0.63 NA 0.172 False NA ,,, NA NA NA 2504 0.319 NA NA NA NA 0 A ,,, 1007,2777 135,737,1020 56 56 56 ,,, -0.2 0 2 dbSNP_100 56 1386,6850 116,1154,2848 no intron,intron,intron,intron TTN NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3 ,,, 251,1891,3868 GG,GA,AA 16.8286,26.6121,19.9085 ,,, ,,, 179411665 2393,9627 1892 4118 6010 SO:0001627 intron_variant X90568 CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1 2q31 2014-09-17 2004-02-13 ENSG00000155657 ENSG00000155657 7273 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing 12403 protein-coding gene gene with protein product 188840 cardiomyopathy, dilated 1G (autosomal dominant) CMD1G NA 2129545, 10051295 Standard NM_133378 NM_003319 NA Approved CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5 uc031rqd.1 Q8WZ42 OTTHUMG00000154448 ENST00000589042.1:c.94523-33T>C chr2.hg19:g.179411665A>G NA A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9 hg19 CCDS59435.1 0.02 12.527652 TATxCCA COVERED NOVEL TTN-018 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000450680.2 3 8.423047 KEEP 0 0 0 28 847 AA 0.999997 0.999997 0 - 25 60 935 0 0 70.108273 226 60 7828 304 ENST00000589042.1 0.099602 1 TTN 7273 __UNKNOWN__ __UNKNOWN__ 2 179414633 179414633 __UNKNOWN__ Intron SNP C C A rs890578 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:179414633C>A ENST00000589042.1 - 338 92077 TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000586831.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin NA NA adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941) condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018) actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTCTTTTTCCTTGTCCATTA 0.318 NA C||| 1620 0.323482 0.2784 0.1988 5008 , , NA 20619 0.63 NA 0.171 False NA ,,, NA NA NA 2504 0.3139 NA NA NA NA 0 C ,,, 932,2694 119,694,1000 60 59 59 ,,, 1.4 0 2 dbSNP_86 59 1369,6779 114,1141,2819 no intron,intron,intron,intron TTN NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3 ,,, 233,1835,3819 AA,AC,CC 16.8017,25.7033,19.5431 ,,, ,,, 179414633 2301,9473 1813 4074 5887 SO:0001627 intron_variant X90568 CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1 2q31 2014-09-17 2004-02-13 ENSG00000155657 ENSG00000155657 7273 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing 12403 protein-coding gene gene with protein product 188840 cardiomyopathy, dilated 1G (autosomal dominant) CMD1G NA 2129545, 10051295 Standard NM_133378 NM_003319 NA Approved CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5 uc031rqd.1 Q8WZ42 OTTHUMG00000154448 ENST00000589042.1:c.91853-37G>T chr2.hg19:g.179414633C>A NA A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9 hg19 CCDS59435.1 0.02 10.956362 TTCxTTG COVERED NOVEL TTN-018 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000450680.2 3 11.136259 KEEP 0 0 0 37 1328 CC 1 1 0 - 23 60 827 0 0 59.107611 260 60 9710 364 ENST00000589042.1 0.081272 1 TTN 7273 __UNKNOWN__ __UNKNOWN__ 2 179421694 179421694 __UNKNOWN__ Missense_Mutation SNP A A G rs9808377 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:179421694A>G ENST00000589042.1 - 330 88411 c.88187T>C c.(88186-88188)aTc>aCc p.I29396T TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I26828T|TTN_ENST00000342175.6_Missense_Mutation_p.I20523T|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.I27755T|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I20331T|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I20456T|TTN-AS1_ENST00000586831.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 27755 Fibronectin type-III 114. {ECO:0000255|PROSITE-ProRule:PRU00316}. NA adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941) condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018) actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCCAGAGATGATGAATTGAGT 0.463 NA G||| 2540 0.507188 0.5666 0.4049 5008 , , NA 20211 0.7153 NA 0.2495 False NA ,,, NA NA NA 2504 0.5501 NA NA NA NA 0 G THR/ILE,THR/ILE,THR/ILE,THR/ILE 2066,1878 556,954,462 92 95 94 61568,61367,80483,60992 -2.9 0.1 2 dbSNP_119 94 1831,6469 187,1457,2506 yes missense,missense,missense,missense TTN NM_133437.3,NM_133432.3,NM_133378.4,NM_003319.4 89,89,89,89 743,2411,2968 GG,GA,AA 22.0602,47.6166,31.8278 benign,benign,benign,benign 20523/27119,20456/27052,26828/33424,20331/26927 179421694 3897,8347 1972 4150 6122 SO:0001583 missense X90568 CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1 2q31 2014-09-17 2004-02-13 ENSG00000155657 ENSG00000155657 7273 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing 12403 protein-coding gene gene with protein product 188840 cardiomyopathy, dilated 1G (autosomal dominant) CMD1G NA 2129545, 10051295 Standard NM_133378 NM_003319 NA Approved CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5 uc031rqd.1 Q8WZ42 OTTHUMG00000154448 ENST00000589042.1:c.88187T>C chr2.hg19:g.179421694A>G ENSP00000467141:p.Ile29396Thr NA A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9 hg19 CCDS59435.1 0.02 21.615182 ATGxTGA COVERED 979 0.4482600732600733 282 0.573170731707317 129 0.356353591160221 385 0.6730769230769231 183 0.24142480211081793 G 3.223 -0.159019 0.06544 0.523834 0.220602 ENSG00000155657 ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127 T;T;T;T 0.50813 0.73;0.73;0.73;0.73 5.87 -2.9 0.05648 Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1); . . . . T 0.00012 0.0000 N 0.00044 -2.455 0.51482 P 7.299999999998974E-5 B;B;B;B 0.02656 0.0;0.0;0.0;0.0 B;B;B;B 0.01281 0.0;0.0;0.0;0.0 T 0.50617 -0.8807 8 0.87932 D 0 . 12.5594 0.56273 0.6079:0.0:0.3921:0.0 rs9808377;rs56743405;rs9808377 20331;20456;20523;27755 D3DPF9;E7EQE6;E7ET18;Q8WZ42 .;.;.;TITIN_HUMAN T 26828;20331;20523;20456;20328 ENSP00000343764:I26828T;ENSP00000434586:I20331T;ENSP00000340554:I20523T;ENSP00000352154:I20456T ENSP00000340554:I20523T I - 2 0 TTN 179129940 0.202000 0.23423 0.094000 0.20943 0.170000 0.22686 0.686000 0.25392 -1.202000 0.02655 -0.726000 0.03593 ATC NOVEL TTN-018 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000450680.2 5 17.148052 KEEP 0 0 0 57 1758 AA 1 1 0 - 49 60 1802 0 0 134.576072 438 60 15884 608 ENST00000589042.1 0.100616 1 TTN 7273 __UNKNOWN__ __UNKNOWN__ 2 179427186 179427186 __UNKNOWN__ Silent SNP A A G rs2366751 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:179427186A>G ENST00000589042.1 - 326 83897 c.83673T>C c.(83671-83673)ggT>ggC p.G27891G TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Silent_p.G25323G|TTN_ENST00000342175.6_Silent_p.G19018G|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Silent_p.G26250G|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Silent_p.G18826G|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.G18951G|TTN-AS1_ENST00000586831.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 26250 NA adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941) condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018) actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTTGCTGCCACCATCACTTT 0.433 NA G||| 2548 0.508786 0.5673 0.4078 5008 , , NA 21523 0.7153 NA 0.2535 False NA ,,, NA NA NA 2504 0.5511 NA NA NA NA 0 G ,,, 2019,1847 546,927,460 65 67 67 56478,75969,56853,57054 -1.6 1 2 dbSNP_100 67 1847,6443 193,1461,2491 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous TTN NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3 ,,, 739,2388,2951 GG,GA,AA 22.2799,47.7755,31.8032 ,,, 18826/26927,25323/33424,18951/27052,19018/27119 179427186 3866,8290 1933 4145 6078 SO:0001819 synonymous_variant X90568 CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1 2q31 2014-09-17 2004-02-13 ENSG00000155657 ENSG00000155657 7273 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing 12403 protein-coding gene gene with protein product 188840 cardiomyopathy, dilated 1G (autosomal dominant) CMD1G NA 2129545, 10051295 Standard NM_133378 NM_003319 NA Approved CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5 uc031rqd.1 Q8WZ42 OTTHUMG00000154448 ENST00000589042.1:c.83673T>C chr2.hg19:g.179427186A>G NA A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9 hg19 CCDS59435.1 0.02 20.827768 GCCxCCA COVERED NOVEL TTN-018 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000450680.2 3 20.761112 KEEP 0 0 0 69 2176 AA 1 1 0 - 34 60 1162 1 0 79.518969 452 60 16107 666 ENST00000589042.1 0.069959 1 TTN 7273 __UNKNOWN__ __UNKNOWN__ 2 179427536 179427536 __UNKNOWN__ Missense_Mutation SNP T T C rs3829746 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:179427536T>C ENST00000589042.1 - 326 83547 c.83323A>G c.(83323-83325)Ata>Gta p.I27775V TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I25207V|TTN_ENST00000342175.6_Missense_Mutation_p.I18902V|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.I26134V|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I18710V|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I18835V|TTN-AS1_ENST00000586831.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 26134 Fibronectin type-III 102. {ECO:0000255|PROSITE-ProRule:PRU00316}. NA adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941) condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018) actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACTTCTCTTATGGTCAAATTC 0.408 NA C||| 2546 0.508387 0.5658 0.4078 5008 , , NA 21726 0.7153 NA 0.2535 False NA ,,, NA NA NA 2504 0.5511 NA NA NA NA 0 C VAL/ILE,VAL/ILE,VAL/ILE,VAL/ILE 2013,1773 546,921,426 64 58 60 56704,56503,75619,56128 5.2 1 2 dbSNP_107 60 1841,6417 193,1455,2481 yes missense,missense,missense,missense TTN NM_133437.3,NM_133432.3,NM_133378.4,NM_003319.4 29,29,29,29 739,2376,2907 CC,CT,TT 22.2935,46.8304,31.9993 benign,benign,benign,benign 18902/27119,18835/27052,25207/33424,18710/26927 179427536 3854,8190 1893 4129 6022 SO:0001583 missense X90568 CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1 2q31 2014-09-17 2004-02-13 ENSG00000155657 ENSG00000155657 7273 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing 12403 protein-coding gene gene with protein product 188840 cardiomyopathy, dilated 1G (autosomal dominant) CMD1G NA 2129545, 10051295 Standard NM_133378 NM_003319 NA Approved CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5 uc031rqd.1 Q8WZ42 OTTHUMG00000154448 ENST00000589042.1:c.83323A>G chr2.hg19:g.179427536T>C ENSP00000467141:p.Ile27775Val NA A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9 hg19 CCDS59435.1 0.02 15.477754 TTAxGGT COVERED 980 0.44871794871794873 281 0.5711382113821138 129 0.356353591160221 385 0.6730769230769231 185 0.24406332453825857 C 9.433 1.086053 0.20390 0.531696 0.222935 ENSG00000155657 ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127 T;T;T;T 0.53423 0.62;0.62;0.62;0.62 6.04 5.15 0.70609 Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1); . . . . T 0.00012 0.0000 N 0.02275 -0.615 0.39703 P 0.028781999999999974 B;B;B;B 0.02656 0.0;0.0;0.0;0.0 B;B;B;B 0.04013 0.001;0.001;0.001;0.001 T 0.37314 -0.9711 8 0.87932 D 0 . 9.6301 0.39774 0.0:0.6833:0.0:0.3167 rs3829746;rs11565883;rs56750589;rs3829746 18710;18835;18902;26134 D3DPF9;E7EQE6;E7ET18;Q8WZ42 .;.;.;TITIN_HUMAN V 25207;18710;18902;18835;18708 ENSP00000343764:I25207V;ENSP00000434586:I18710V;ENSP00000340554:I18902V;ENSP00000352154:I18835V ENSP00000340554:I18902V I - 1 0 TTN 179135782 0.155000 0.22806 0.994000 0.49952 0.900000 0.52787 0.683000 0.25349 0.883000 0.36040 -0.215000 0.12644 ATA NOVEL TTN-018 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000450680.2 2 15.644968 KEEP 0 0 0 52 1600 TT 1 1 0 - 32 60 1132 0 0 81.226182 337 60 12540 502 ENST00000589042.1 0.086721 1 TTN 7273 __UNKNOWN__ __UNKNOWN__ 2 179430997 179430997 __UNKNOWN__ Missense_Mutation SNP G G A rs3731746 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:179430997G>A ENST00000589042.1 - 326 80086 c.79862C>T c.(79861-79863)aCg>aTg p.T26621M TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T24053M|TTN_ENST00000342175.6_Missense_Mutation_p.T17748M|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T24980M|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T17556M|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T17681M|TTN-AS1_ENST00000586831.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 24980 Fibronectin type-III 94. {ECO:0000255|PROSITE-ProRule:PRU00316}. NA adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941) condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018) actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GATCTCAGGCGTTGGACGACC 0.418 NA G||| 1714 0.342252 0.3442 0.2061 5008 , , NA 22404 0.629 NA 0.171 False NA ,,, NA NA NA 2504 0.317 NA NA NA NA 0 G MET/THR,MET/THR,MET/THR,MET/THR 1257,2583 208,841,871 161 155 157 52667,72158,53042,53243 5 1 2 dbSNP_107 157 1385,6915 116,1153,2881 yes missense,missense,missense,missense TTN NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3 81,81,81,81 324,1994,3752 AA,AG,GG 16.6867,32.7344,21.7628 possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging 17556/26927,24053/33424,17681/27052,17748/27119 179430997 2642,9498 1920 4150 6070 SO:0001583 missense X90568 CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1 2q31 2014-09-17 2004-02-13 ENSG00000155657 ENSG00000155657 7273 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing 12403 protein-coding gene gene with protein product 188840 cardiomyopathy, dilated 1G (autosomal dominant) CMD1G NA 2129545, 10051295 Standard NM_133378 NM_003319 NA Approved CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5 uc031rqd.1 Q8WZ42 OTTHUMG00000154448 ENST00000589042.1:c.79862C>T chr2.hg19:g.179430997G>A ENSP00000467141:p.Thr26621Met NA A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9 hg19 CCDS59435.1 0.02 13.824628 GGCxTTG COVERED 693 0.3173076923076923 157 0.31910569105691056 68 0.1878453038674033 341 0.5961538461538461 127 0.16754617414248021 G 9.152 1.016420 0.19355 0.327344 0.166867 ENSG00000155657 ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127 T;T;T;T 0.68624 -0.34;-0.34;-0.34;-0.34 5.91 5.03 0.67393 Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1); . . . . T 0.00012 0.0000 M 0.80183 2.485 0.25672 P 0.9858806 P;P;P;P 0.48694 0.914;0.914;0.914;0.914 P;P;P;P 0.50270 0.636;0.636;0.636;0.636 T 0.50338 -0.8840 8 0.87932 D 0 . 11.7884 0.52055 0.1854:0.0:0.8146:0.0 rs3731746;rs52794037;rs56683294;rs3731746 17556;17681;17748;24980 D3DPF9;E7EQE6;E7ET18;Q8WZ42 .;.;.;TITIN_HUMAN M 24053;17556;17748;17681;17554 ENSP00000343764:T24053M;ENSP00000434586:T17556M;ENSP00000340554:T17748M;ENSP00000352154:T17681M ENSP00000340554:T17748M T - 2 0 TTN 179139243 1.000000 0.71417 0.980000 0.43619 0.991000 0.79684 2.938000 0.48987 1.485000 0.48380 0.555000 0.69702 ACG NOVEL TTN-018 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000450680.2 4 9.565737 KEEP 0 1 32 43 1481 GG 1 1 0 - 42 60 1547 0 0 120.079832 289 60 9818 434 ENST00000589042.1 0.126888 1 TTN 7273 __UNKNOWN__ __UNKNOWN__ 2 179431797 179431797 __UNKNOWN__ Silent SNP A A T rs3731744 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:179431797A>T ENST00000589042.1 - 326 79286 c.79062T>A c.(79060-79062)ggT>ggA p.G26354G TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Silent_p.G23786G|TTN_ENST00000342175.6_Silent_p.G17481G|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Silent_p.G24713G|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Silent_p.G17289G|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.G17414G|TTN-AS1_ENST00000586831.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 24713 Ig-like 127. NA adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941) condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018) actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CATATTCATTACCTTCTAAGA 0.398 NA A||| 464 0.0926518 0.1331 0.0418 5008 , , NA 19295 0.1766 NA 0.0328 False NA ,,, NA NA NA 2504 0.0491 NA NA NA NA 0 A ,,, 431,3285 29,373,1456 140 138 139 51867,71358,52242,52443 -3.2 1 2 dbSNP_107 139 170,8022 4,162,3930 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous TTN NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3 ,,, 33,535,5386 TT,TA,AA 2.0752,11.5985,5.047 ,,, 17289/26927,23786/33424,17414/27052,17481/27119 179431797 601,11307 1858 4096 5954 SO:0001819 synonymous_variant X90568 CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1 2q31 2014-09-17 2004-02-13 ENSG00000155657 ENSG00000155657 7273 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing 12403 protein-coding gene gene with protein product 188840 cardiomyopathy, dilated 1G (autosomal dominant) CMD1G NA 2129545, 10051295 Standard NM_133378 NM_003319 NA Approved CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5 uc031rqd.1 Q8WZ42 OTTHUMG00000154448 ENST00000589042.1:c.79062T>A chr2.hg19:g.179431797A>T NA A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9 hg19 CCDS59435.1 0.02 16.999281 ATTxCCT COVERED NOVEL TTN-018 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000450680.2 2 12.466039 KEEP 0 1 24 50 1527 AA 1 1 0 - 30 60 1044 0 0 74.344661 324 60 11275 457 ENST00000589042.1 0.084746 1 TTN 7273 __UNKNOWN__ __UNKNOWN__ 2 179434516 179434516 __UNKNOWN__ Missense_Mutation SNP C C T rs3813243 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:179434516C>T ENST00000589042.1 - 326 76567 c.76343G>A c.(76342-76344)aGt>aAt p.S25448N TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S22880N|TTN_ENST00000342175.6_Missense_Mutation_p.S16575N|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S23807N|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S16383N|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S16508N|TTN-AS1_ENST00000586831.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 23807 Fibronectin type-III 85. {ECO:0000255|PROSITE-ProRule:PRU00316}. NA adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941) condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018) actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTCACCAACACTCACATCACA 0.368 NA C||| 397 0.0792732 0.0855 0.0418 5008 , , NA 21664 0.1736 NA 0.0328 False NA ,,, NA NA NA 2504 0.0481 NA NA NA NA 0 C ASN/SER,ASN/SER,ASN/SER,ASN/SER 241,3527 8,225,1651 146 131 135 49148,68639,49523,49724 5.9 1 2 dbSNP_107 135 167,8095 4,159,3968 yes missense,missense,missense,missense TTN NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3 46,46,46,46 12,384,5619 TT,TC,CC 2.0213,6.396,3.3915 possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging 16383/26927,22880/33424,16508/27052,16575/27119 179434516 408,11622 1884 4131 6015 SO:0001583 missense X90568 CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1 2q31 2014-09-17 2004-02-13 ENSG00000155657 ENSG00000155657 7273 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing 12403 protein-coding gene gene with protein product 188840 cardiomyopathy, dilated 1G (autosomal dominant) CMD1G NA 2129545, 10051295 Standard NM_133378 NM_003319 NA Approved CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5 uc031rqd.1 Q8WZ42 OTTHUMG00000154448 ENST00000589042.1:c.76343G>A chr2.hg19:g.179434516C>T ENSP00000467141:p.Ser25448Asn NA A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9 hg19 CCDS59435.1 0.02 6.71018 ACAxTCA COVERED 177 0.08104395604395605 37 0.07520325203252033 16 0.04419889502762431 101 0.17657342657342656 23 0.030343007915567283 C 12.11 1.839419 0.32513 0.06396 0.020213 ENSG00000155657 ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127 T;T;T;T 0.39056 1.1;1.1;1.1;1.1 5.92 5.92 0.95590 Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1); . . . . T 0.00073 0.0002 N 0.17800 0.525 0.28382 P 0.9194971 P;P;P;P 0.43231 0.801;0.801;0.801;0.684 B;B;B;B 0.38106 0.265;0.265;0.265;0.197 T 0.03095 -1.1073 8 0.87932 D 0 . 20.3081 0.98638 0.0:1.0:0.0:0.0 rs3813243;rs52789452;rs3813243 16383;16508;16575;23807 D3DPF9;E7EQE6;E7ET18;Q8WZ42 .;.;.;TITIN_HUMAN N 22880;16383;16575;16508;16381 ENSP00000343764:S22880N;ENSP00000434586:S16383N;ENSP00000340554:S16575N;ENSP00000352154:S16508N ENSP00000340554:S16575N S - 2 0 TTN 179142762 1.000000 0.71417 1.000000 0.80357 0.995000 0.86356 3.542000 0.53625 2.795000 0.96236 0.655000 0.94253 AGT NOVEL TTN-018 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000450680.2 2 7.222988 KEEP 0 0 0 24 851 CC 0.999909 0.999909 0 - 6 60 222 0 0 13.689521 171 60 6470 235 ENST00000589042.1 0.033898 1 TTN 7273 __UNKNOWN__ __UNKNOWN__ 2 179444939 179444939 __UNKNOWN__ Missense_Mutation SNP C C T rs2303838 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:179444939C>T ENST00000589042.1 - 318 67299 c.67075G>A c.(67075-67077)Gtc>Atc p.V22359I TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V19791I|TTN_ENST00000342175.6_Missense_Mutation_p.V13486I|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V20718I|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V13294I|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V13419I|TTN-AS1_ENST00000586831.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 20718 Fibronectin type-III 62. {ECO:0000255|PROSITE-ProRule:PRU00316}. NA adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941) condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018) actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTCACATTGACAGGTGGCCCA 0.348 NA C||| 1759 0.351238 0.3434 0.2147 5008 , , NA 20260 0.631 NA 0.1849 False NA ,,, NA NA NA 2504 0.3415 NA NA NA NA 0 C ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL 1207,2467 202,803,832 62 60 61 40456,40255,59371,39880 2.6 0.9 2 dbSNP_100 61 1445,6723 128,1189,2767 yes missense,missense,missense,missense TTN NM_133437.3,NM_133432.3,NM_133378.4,NM_003319.4 29,29,29,29 330,1992,3599 TT,TC,CC 17.691,32.8525,22.3949 benign,benign,benign,benign 13486/27119,13419/27052,19791/33424,13294/26927 179444939 2652,9190 1837 4084 5921 SO:0001583 missense X90568 CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1 2q31 2014-09-17 2004-02-13 ENSG00000155657 ENSG00000155657 7273 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing 12403 protein-coding gene gene with protein product 188840 cardiomyopathy, dilated 1G (autosomal dominant) CMD1G NA 2129545, 10051295 Standard NM_133378 NM_003319 NA Approved CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5 uc031rqd.1 Q8WZ42 OTTHUMG00000154448 ENST00000589042.1:c.67075G>A chr2.hg19:g.179444939C>T ENSP00000467141:p.Val22359Ile NA A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9 hg19 CCDS59435.1 0.02 6.448302 TGAxAGG COVERED 710 0.3250915750915751 157 0.31910569105691056 73 0.20165745856353592 344 0.6013986013986014 136 0.17941952506596306 C 9.291 1.050609 0.19827 0.328525 0.17691 ENSG00000155657 ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127 T;T;T;T 0.57107 0.42;0.42;0.42;0.42 5.41 2.61 0.31194 Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1); . . . . T 0.00012 0.0000 L 0.54965 1.715 0.27033 P 0.9641858 B;B;B;B 0.10296 0.003;0.003;0.003;0.003 B;B;B;B 0.14578 0.011;0.011;0.011;0.011 T 0.39396 -0.9616 8 0.87932 D 0 . 6.7606 0.23538 0.0:0.6119:0.1229:0.2652 rs2303838;rs52803332;rs59721271;rs2303838 13294;13419;13486;20718 D3DPF9;E7EQE6;E7ET18;Q8WZ42 .;.;.;TITIN_HUMAN I 19791;13294;13486;13419;13292 ENSP00000343764:V19791I;ENSP00000434586:V13294I;ENSP00000340554:V13486I;ENSP00000352154:V13419I ENSP00000340554:V13486I V - 1 0 TTN 179153185 0.001000 0.12720 0.932000 0.37286 0.972000 0.66771 -0.020000 0.12525 0.261000 0.21753 -0.253000 0.11424 GTC NOVEL TTN-018 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000450680.2 1 4.494347 KEEP 0 0 0 15 505 CC 0.99649 0.99649 0 - 12 60 426 0 0 30.170452 138 60 5256 183 ENST00000589042.1 0.08 1 TTN 7273 __UNKNOWN__ __UNKNOWN__ 2 179447848 179447848 __UNKNOWN__ Silent SNP T T C rs4894029 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:179447848T>C ENST00000589042.1 - 313 65906 c.65682A>G c.(65680-65682)acA>acG p.T21894T TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Silent_p.T19326T|TTN_ENST00000342175.6_Silent_p.T13021T|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Silent_p.T20253T|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Silent_p.T12829T|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.T12954T|TTN-AS1_ENST00000586831.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 20253 Fibronectin type-III 59. {ECO:0000255|PROSITE-ProRule:PRU00316}. NA adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941) condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018) actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCCAAGAAACTGTTGGCATCG 0.458 NA C||| 2573 0.513778 0.5749 0.4078 5008 , , NA 18418 0.7202 NA 0.2555 False NA ,,, NA NA NA 2504 0.5593 NA NA NA NA 0 C ,,, 2050,1812 558,934,439 63 60 61 38487,57978,38862,39063 -6.8 0.4 2 dbSNP_111 61 1860,6430 195,1470,2480 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous TTN NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3 ,,, 753,2404,2919 CC,CT,TT 22.4367,46.9187,32.1758 ,,, 12829/26927,19326/33424,12954/27052,13021/27119 179447848 3910,8242 1931 4145 6076 SO:0001819 synonymous_variant X90568 CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1 2q31 2014-09-17 2004-02-13 ENSG00000155657 ENSG00000155657 7273 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing 12403 protein-coding gene gene with protein product 188840 cardiomyopathy, dilated 1G (autosomal dominant) CMD1G NA 2129545, 10051295 Standard NM_133378 NM_003319 NA Approved CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5 uc031rqd.1 Q8WZ42 OTTHUMG00000154448 ENST00000589042.1:c.65682A>G chr2.hg19:g.179447848T>C NA A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9 hg19 CCDS59435.1 0.02 14.372435 AACxGTT COVERED NOVEL TTN-018 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000450680.2 1 15.94844 KEEP 0 0 0 53 1684 TT 1 1 0 - 36 60 1246 0 0 91.534496 312 60 11558 466 ENST00000589042.1 0.103448 1 TTN 7273 __UNKNOWN__ __UNKNOWN__ 2 179449186 179449186 __UNKNOWN__ Missense_Mutation SNP G G A rs72646861 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:179449186G>A ENST00000589042.1 - 311 65316 c.65092C>T c.(65092-65094)Cgc>Tgc p.R21698C TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R19130C|TTN_ENST00000342175.6_Missense_Mutation_p.R12825C|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R20057C|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R12633C|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R12758C|TTN-AS1_ENST00000586831.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 20057 NA adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941) condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018) actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTTTCCTTGCGTTCAATCAGA 0.448 NA G||| 65 0.0129792 0.0008 0.0043 5008 , , NA 19635 0.0228 NA 0.002 False NA ,,, NA NA NA 2504 0.0368 NA NA NA NA 0 G CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG 0,3802 0,0,1901 97 93 94 37897,57388,38272,38473 6.1 1 2 dbSNP_130 94 23,8227 0,23,4102 yes missense,missense,missense,missense TTN NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3 180,180,180,180 0,23,6003 AA,AG,GG 0.2788,0.0,0.1908 probably-damaging,probably-damaging,probably-damaging,probably-damaging 12633/26927,19130/33424,12758/27052,12825/27119 179449186 23,12029 1901 4125 6026 SO:0001583 missense X90568 CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1 2q31 2014-09-17 2004-02-13 ENSG00000155657 ENSG00000155657 7273 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing 12403 protein-coding gene gene with protein product 188840 cardiomyopathy, dilated 1G (autosomal dominant) CMD1G NA 2129545, 10051295 Standard NM_133378 NM_003319 NA Approved CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5 uc031rqd.1 Q8WZ42 OTTHUMG00000154448 ENST00000589042.1:c.65092C>T chr2.hg19:g.179449186G>A ENSP00000467141:p.Arg21698Cys NA A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9 hg19 CCDS59435.1 0.02 26.267512 TGCxTTC COVERED 18 0.008241758241758242 1 0.0020325203252032522 2 0.0055248618784530384 14 0.024475524475524476 1 0.0013192612137203166 G 14.22 2.469485 0.43839 0.0 0.002788 ENSG00000155657 ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127 T;T;T;T 0.55413 0.52;0.52;0.52;0.52 6.08 6.08 0.98989 Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1); . . . . T 0.62036 0.2395 M 0.78285 2.405 0.80722 D 1 D;D;D;D 0.89917 1.0;1.0;1.0;1.0 D;D;D;D 0.74674 0.963;0.963;0.963;0.984 T 0.71715 -0.4509 9 0.87932 D 0 . 20.6647 0.99678 0.0:0.0:1.0:0.0 . 12633;12758;12825;20057 D3DPF9;E7EQE6;E7ET18;Q8WZ42 .;.;.;TITIN_HUMAN C 19130;12633;12825;12758;12631 ENSP00000343764:R19130C;ENSP00000434586:R12633C;ENSP00000340554:R12825C;ENSP00000352154:R12758C ENSP00000340554:R12825C R - 1 0 TTN 179157432 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 5.054000 0.64275 2.890000 0.99128 0.655000 0.94253 CGC NOVEL TTN-018 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000450680.2 8 17.079993 KEEP 0 1 32 68 2322 GG 1 1 0 - 49 60 1767 0 0 127.274895 532 60 18899 767 ENST00000589042.1 0.084337 1 TTN 7273 __UNKNOWN__ __UNKNOWN__ 2 179451420 179451420 __UNKNOWN__ Missense_Mutation SNP G G A rs2042996 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:179451420G>A ENST00000589042.1 - 308 64432 c.64208C>T c.(64207-64209)aCt>aTt p.T21403I TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T18835I|TTN_ENST00000342175.6_Missense_Mutation_p.T12530I|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T19762I|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T12338I|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T12463I NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 19762 Fibronectin type-III 55. {ECO:0000255|PROSITE-ProRule:PRU00316}. NA P -> S. {ECO:0000269|PubMed:17344846}. adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941) condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018) actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCTGTAACTAGTGATGTAGCC 0.468 NA A||| 2542 0.507588 0.5582 0.4078 5008 , , NA 19158 0.7212 NA 0.2485 False NA ,,, NA NA NA 2504 0.5562 NA NA NA NA 0 A ILE/THR,ILE/THR,ILE/THR,ILE/THR 2009,1945 527,955,495 184 180 181 37589,37388,56504,37013 6.1 0.9 2 dbSNP_94 181 1837,6525 187,1463,2531 yes missense,missense,missense,missense TTN NM_133437.3,NM_133432.3,NM_133378.4,NM_003319.4 89,89,89,89 714,2418,3026 AA,AG,GG 21.9684,49.1907,31.2277 benign,benign,benign,benign 12530/27119,12463/27052,18835/33424,12338/26927 179451420 3846,8470 1977 4181 6158 SO:0001583 missense X90568 CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1 2q31 2014-09-17 2004-02-13 ENSG00000155657 ENSG00000155657 7273 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing 12403 protein-coding gene gene with protein product 188840 cardiomyopathy, dilated 1G (autosomal dominant) CMD1G NA 2129545, 10051295 Standard NM_133378 NM_003319 NA Approved CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5 uc031rqd.1 Q8WZ42 OTTHUMG00000154448 ENST00000589042.1:c.64208C>T chr2.hg19:g.179451420G>A ENSP00000467141:p.Thr21403Ile NA A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9 hg19 CCDS59435.1 0.02 5.927333 CTAxTGA COVERED 977 0.44734432234432236 274 0.556910569105691 130 0.35911602209944754 390 0.6818181818181818 183 0.24142480211081793 A 15.37 2.813873 0.50527 0.508093 0.219684 ENSG00000155657 ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127 T;T;T;T 0.42513 0.97;0.97;0.97;0.97 6.07 6.07 0.98685 Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1); . . . . T 0.00012 0.0000 N 0.00004 -3.385 0.50039 P 1.5100000000001224E-4 B;B;B;B 0.02656 0.0;0.0;0.0;0.0 B;B;B;B 0.01281 0.0;0.0;0.0;0.0 T 0.48031 -0.9070 8 0.87932 D 0 . 12.3663 0.55230 0.9347:0.0:0.0653:0.0 rs2042996;rs52829581;rs2042996 12338;12463;12530;19762 D3DPF9;E7EQE6;E7ET18;Q8WZ42 .;.;.;TITIN_HUMAN I 18835;12338;12530;12463;12336 ENSP00000343764:T18835I;ENSP00000434586:T12338I;ENSP00000340554:T12530I;ENSP00000352154:T12463I ENSP00000340554:T12530I T - 2 0 TTN 179159666 1.000000 0.71417 0.901000 0.35422 0.836000 0.47400 7.476000 0.81055 1.120000 0.41904 -0.254000 0.11334 ACT NOVEL TTN-018 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000450680.2 2 14.146262 KEEP 0 0 0 47 1674 GG 1 1 0 - 15 60 523 0 0 36.406506 183 60 6897 295 ENST00000589042.1 0.075758 1 TTN 7273 __UNKNOWN__ __UNKNOWN__ 2 179454394 179454394 __UNKNOWN__ Silent SNP A A G rs1560221 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:179454394A>G ENST00000589042.1 - 304 62282 c.62058T>C c.(62056-62058)taT>taC p.Y20686Y TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Silent_p.Y18118Y|TTN_ENST00000342175.6_Silent_p.Y11813Y|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Silent_p.Y19045Y|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Silent_p.Y11621Y|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.Y11746Y NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 19045 NA adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941) condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018) actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCCACTTTAGATAGACAAATG 0.448 NA G||| 2566 0.51238 0.5681 0.4092 5008 , , NA 22023 0.7232 NA 0.2545 False NA ,,, NA NA NA 2504 0.5583 NA NA NA NA 0 G ,,, 2027,1825 546,935,445 194 187 189 34863,54354,35238,35439 3.9 1 2 dbSNP_88 189 1858,6404 196,1466,2469 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous TTN NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3 ,,, 742,2401,2914 GG,GA,AA 22.4885,47.378,32.0703 ,,, 11621/26927,18118/33424,11746/27052,11813/27119 179454394 3885,8229 1926 4131 6057 SO:0001819 synonymous_variant X90568 CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1 2q31 2014-09-17 2004-02-13 ENSG00000155657 ENSG00000155657 7273 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing 12403 protein-coding gene gene with protein product 188840 cardiomyopathy, dilated 1G (autosomal dominant) CMD1G NA 2129545, 10051295 Standard NM_133378 NM_003319 NA Approved CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5 uc031rqd.1 Q8WZ42 OTTHUMG00000154448 ENST00000589042.1:c.62058T>C chr2.hg19:g.179454394A>G NA A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9 hg19 CCDS59435.1 0.02 18.332616 TAGxTAG COVERED NOVEL TTN-018 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000450680.2 4 17.451046 KEEP 0 0 0 58 1797 AA 1 1 0 - 39 60 1420 0 0 104.805365 368 60 13281 534 ENST00000589042.1 0.095823 1 TTN 7273 __UNKNOWN__ __UNKNOWN__ 2 179455207 179455207 __UNKNOWN__ Silent SNP T T C rs2163009 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:179455207T>C ENST00000589042.1 - 304 61469 c.61245A>G c.(61243-61245)acA>acG p.T20415T TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Silent_p.T17847T|TTN_ENST00000342175.6_Silent_p.T11542T|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Silent_p.T18774T|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Silent_p.T11350T|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.T11475T NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 18774 NA adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941) condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018) actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCCATTGTGCTGTGCCAGGTT 0.433 NA t||| 2566 0.51238 0.5688 0.4078 5008 , , NA 22493 0.7232 NA 0.2545 False NA ,,, NA NA NA 2504 0.5583 NA NA NA NA 0 C ,,, 2033,1861 544,945,458 109 110 110 34050,53541,34425,34626 -12.2 0 2 dbSNP_96 110 1857,6427 195,1467,2480 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous TTN NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3 ,,, 739,2412,2938 CC,CT,TT 22.4167,47.7915,31.9428 ,,, 11350/26927,17847/33424,11475/27052,11542/27119 179455207 3890,8288 1947 4142 6089 SO:0001819 synonymous_variant X90568 CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1 2q31 2014-09-17 2004-02-13 ENSG00000155657 ENSG00000155657 7273 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing 12403 protein-coding gene gene with protein product 188840 cardiomyopathy, dilated 1G (autosomal dominant) CMD1G NA 2129545, 10051295 Standard NM_133378 NM_003319 NA Approved CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5 uc031rqd.1 Q8WZ42 OTTHUMG00000154448 ENST00000589042.1:c.61245A>G chr2.hg19:g.179455207T>C NA A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9 hg19 CCDS59435.1 0.02 16.463488 TGCxGTG COVERED NOVEL TTN-018 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000450680.2 2 9.930009 KEEP 0 0 0 33 1048 TT 0.999998 0.999998 0 - 48 60 1627 0 0 119.925426 389 60 14328 527 ENST00000589042.1 0.10984 1 TTN 7273 __UNKNOWN__ __UNKNOWN__ 2 179457446 179457446 __UNKNOWN__ Intron SNP A A G rs72646841 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:179457446A>G ENST00000589042.1 - 300 59569 TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin NA NA adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941) condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018) actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACAATTAAACACATACAATCA 0.403 NA A||| 501 0.10004 0.1346 0.0504 5008 , , NA 21902 0.1796 NA 0.0447 False NA ,,, NA NA NA 2504 0.0634 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X90568 CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1 2q31 2014-09-17 2004-02-13 ENSG00000155657 ENSG00000155657 7273 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing 12403 protein-coding gene gene with protein product 188840 cardiomyopathy, dilated 1G (autosomal dominant) CMD1G NA 2129545, 10051295 Standard NM_133378 NM_003319 NA Approved CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5 uc031rqd.1 Q8WZ42 OTTHUMG00000154448 ENST00000589042.1:c.59344+55T>C chr2.hg19:g.179457446A>G NA A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9 hg19 CCDS59435.1 0.02 14.170909 AACxCAT COVERED NOVEL TTN-018 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000450680.2 3 13.238328 KEEP 0 0 0 44 1351 AA 1 1 0 - 32 60 1123 0 0 82.679766 282 60 10183 405 ENST00000589042.1 0.101911 1 TTN 7273 __UNKNOWN__ __UNKNOWN__ 2 179464527 179464527 __UNKNOWN__ Missense_Mutation SNP T T C rs1001238 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:179464527T>C ENST00000589042.1 - 289 56325 c.56101A>G c.(56101-56103)Aat>Gat p.N18701D TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.N16133D|TTN_ENST00000342175.6_Missense_Mutation_p.N9828D|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.N17060D|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.N9636D|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.N9761D NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 17060 Fibronectin type-III 35. {ECO:0000255|PROSITE-ProRule:PRU00316}. NA adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941) condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018) actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATGTTAACATTGGTTCCTTCT 0.383 NA C||| 2568 0.51278 0.5688 0.4078 5008 , , NA 19770 0.7252 NA 0.2535 False NA ,,, NA NA NA 2504 0.5593 NA NA NA NA 0 C ASP/ASN,ASP/ASN,ASP/ASN,ASP/ASN 1980,1734 541,898,418 95 87 90 29482,29281,48397,28906 5.6 1 2 dbSNP_86 90 1846,6320 195,1456,2432 yes missense,missense,missense,missense TTN NM_133437.3,NM_133432.3,NM_133378.4,NM_003319.4 23,23,23,23 736,2354,2850 CC,CT,TT 22.6059,46.6882,32.2054 benign,benign,benign,benign 9828/27119,9761/27052,16133/33424,9636/26927 179464527 3826,8054 1857 4083 5940 SO:0001583 missense X90568 CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1 2q31 2014-09-17 2004-02-13 ENSG00000155657 ENSG00000155657 7273 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing 12403 protein-coding gene gene with protein product 188840 cardiomyopathy, dilated 1G (autosomal dominant) CMD1G NA 2129545, 10051295 Standard NM_133378 NM_003319 NA Approved CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5 uc031rqd.1 Q8WZ42 OTTHUMG00000154448 ENST00000589042.1:c.56101A>G chr2.hg19:g.179464527T>C ENSP00000467141:p.Asn18701Asp NA A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9 hg19 CCDS59435.1 0.02 11.186053 CATxGGT COVERED 998 0.45695970695970695 285 0.5792682926829268 131 0.36187845303867405 395 0.6905594405594405 187 0.24670184696569922 C 15.22 2.767580 0.49574 0.533118 0.226059 ENSG00000155657 ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127 T;T;T;T 0.39592 1.07;1.07;1.07;1.07 5.6 5.6 0.85130 Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1); . . . . T 0.00012 0.0000 N 0.02751 -0.505 0.38372 P 0.05510300000000001 B;B;B;B 0.02656 0.0;0.0;0.0;0.0 B;B;B;B 0.01281 0.0;0.0;0.0;0.0 T 0.34030 -0.9845 8 0.87932 D 0 . 14.7926 0.69854 0.0:0.9306:0.0:0.0694 rs1001238;rs52825036;rs60652051;rs1001238 9636;9761;9828;17060 D3DPF9;E7EQE6;E7ET18;Q8WZ42 .;.;.;TITIN_HUMAN D 16133;9636;9828;9761;9634 ENSP00000343764:N16133D;ENSP00000434586:N9636D;ENSP00000340554:N9828D;ENSP00000352154:N9761D ENSP00000340554:N9828D N - 1 0 TTN 179172772 1.000000 0.71417 0.998000 0.56505 0.770000 0.43624 6.042000 0.70996 1.386000 0.46466 -0.226000 0.12346 AAT NOVEL TTN-018 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000450680.2 1 9.62843 KEEP 0 0 0 32 988 TT 0.999997 0.999997 0 - 24 60 812 0 0 56.705943 267 60 9823 378 ENST00000589042.1 0.082474 1 TTN 7273 __UNKNOWN__ __UNKNOWN__ 2 179470047 179470047 __UNKNOWN__ Intron SNP C C A rs2303833 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:179470047C>A ENST00000589042.1 - 280 54106 TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin NA NA adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941) condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018) actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GAAAGAAAAACAGTAACAAAG 0.373 NA A||| 417 0.0832668 0.1263 0.0231 5008 , , NA 22171 0.1558 NA 0.0209 False NA ,,, NA NA NA 2504 0.0573 NA NA NA NA 0 A ,,, 410,3314 27,356,1479 29 26 27 ,,, 5.7 0 2 dbSNP_100 27 109,8085 1,107,3989 no intron,intron,intron,intron TTN NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3 ,,, 28,463,5468 AA,AC,CC 1.3302,11.0097,4.3548 ,,, ,,, 179470047 519,11399 1862 4097 5959 SO:0001627 intron_variant X90568 CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1 2q31 2014-09-17 2004-02-13 ENSG00000155657 ENSG00000155657 7273 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing 12403 protein-coding gene gene with protein product 188840 cardiomyopathy, dilated 1G (autosomal dominant) CMD1G NA 2129545, 10051295 Standard NM_133378 NM_003319 NA Approved CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5 uc031rqd.1 Q8WZ42 OTTHUMG00000154448 ENST00000589042.1:c.53882-25G>T chr2.hg19:g.179470047C>A NA A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9 hg19 CCDS59435.1 0.02 8.619188 AAAxAGT COVERED NOVEL TTN-018 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000450680.2 7 4.848646 KEEP 0 1 22 24 822 CC 0.999931 0.999931 0 - 21 60 746 0 0 53.582948 222 60 8441 297 ENST00000589042.1 0.08642 1 TTN 7273 __UNKNOWN__ __UNKNOWN__ 2 179474668 179474668 __UNKNOWN__ Missense_Mutation SNP G G A rs16866412 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:179474668G>A ENST00000589042.1 - 272 51706 c.51482C>T c.(51481-51483)gCg>gTg p.A17161V TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A14593V|TTN_ENST00000342175.6_Missense_Mutation_p.A8288V|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A15520V|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A8096V|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A8221V NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 15520 Fibronectin type-III 24. {ECO:0000255|PROSITE-ProRule:PRU00316}. NA adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941) condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018) actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CATTGCCTCCGCTGTAGGATT 0.413 NA G||| 364 0.0726837 0.087 0.0216 5008 , , NA 21482 0.1558 NA 0.0209 False NA ,,, NA NA NA 2504 0.0573 NA NA NA NA 0 G VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA 254,3504 8,238,1633 158 148 151 24287,43778,24662,24863 5.7 1 2 dbSNP_123 151 108,8118 1,106,4006 yes missense,missense,missense,missense TTN NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3 64,64,64,64 9,344,5639 AA,AG,GG 1.3129,6.7589,3.0207 probably-damaging,probably-damaging,probably-damaging,probably-damaging 8096/26927,14593/33424,8221/27052,8288/27119 179474668 362,11622 1879 4113 5992 SO:0001583 missense X90568 CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1 2q31 2014-09-17 2004-02-13 ENSG00000155657 ENSG00000155657 7273 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing 12403 protein-coding gene gene with protein product 188840 cardiomyopathy, dilated 1G (autosomal dominant) CMD1G NA 2129545, 10051295 Standard NM_133378 NM_003319 NA Approved CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5 uc031rqd.1 Q8WZ42 OTTHUMG00000154448 ENST00000589042.1:c.51482C>T chr2.hg19:g.179474668G>A ENSP00000467141:p.Ala17161Val NA A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9 hg19 CCDS59435.1 0.02 10.440687 TCCxCTG COVERED 159 0.07280219780219781 45 0.09146341463414634 12 0.03314917127071823 89 0.1555944055944056 13 0.017150395778364115 G 16.58 3.162036 0.57368 0.067589 0.013129 ENSG00000155657 ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127 T;T;T;T 0.58940 0.3;0.3;0.3;0.3 5.7 5.7 0.88788 Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1); . . . . T 0.00496 0.0016 L 0.46567 1.45 0.21627 P 0.999615188 D;D;D;D 0.61080 0.98;0.989;0.989;0.98 P;P;P;P 0.54401 0.535;0.751;0.751;0.611 T 0.00837 -1.1546 8 0.87932 D 0 . 19.8424 0.96695 0.0:0.0:1.0:0.0 rs16866412;rs52807556;rs16866412 8096;8221;8288;15520 D3DPF9;E7EQE6;E7ET18;Q8WZ42 .;.;.;TITIN_HUMAN V 14593;8096;8288;8221;8096 ENSP00000343764:A14593V;ENSP00000434586:A8096V;ENSP00000340554:A8288V;ENSP00000352154:A8221V ENSP00000340554:A8288V A - 2 0 TTN 179182913 1.000000 0.71417 0.975000 0.42487 0.843000 0.47879 9.807000 0.99171 2.673000 0.90976 0.655000 0.94253 GCG NOVEL TTN-018 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000450680.2 1 7.223142 KEEP 0 0 0 24 832 GG 0.999909 0.999909 0 - 24 60 822 0 0 59.35472 226 60 7888 309 ENST00000589042.1 0.096 1 TTN 7273 __UNKNOWN__ __UNKNOWN__ 2 179477717 179477717 __UNKNOWN__ Silent SNP A A G rs2115558 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:179477717A>G ENST00000589042.1 - 265 49955 c.49731T>C c.(49729-49731)caT>caC p.H16577H TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Silent_p.H14009H|TTN_ENST00000342175.6_Silent_p.H7704H|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Silent_p.H14936H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Silent_p.H7512H|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.H7637H NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 14936 Fibronectin type-III 20. {ECO:0000255|PROSITE-ProRule:PRU00316}. NA adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941) condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018) actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CACCTCCATCATGTTCTGGTT 0.463 NA A||| 369 0.0736821 0.0885 0.0231 5008 , , NA 19169 0.1577 NA 0.0209 False NA ,,, NA NA NA 2504 0.0573 NA NA NA NA 0 A ,,, 267,3667 8,251,1708 97 96 96 22536,42027,22911,23112 -6.7 0.7 2 dbSNP_96 96 108,8206 1,106,4050 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous TTN NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3 ,,, 9,357,5758 GG,GA,AA 1.299,6.787,3.0617 ,,, 7512/26927,14009/33424,7637/27052,7704/27119 179477717 375,11873 1967 4157 6124 SO:0001819 synonymous_variant X90568 CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1 2q31 2014-09-17 2004-02-13 ENSG00000155657 ENSG00000155657 7273 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing 12403 protein-coding gene gene with protein product 188840 cardiomyopathy, dilated 1G (autosomal dominant) CMD1G NA 2129545, 10051295 Standard NM_133378 NM_003319 NA Approved CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5 uc031rqd.1 Q8WZ42 OTTHUMG00000154448 ENST00000589042.1:c.49731T>C chr2.hg19:g.179477717A>G NA A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9 hg19 CCDS59435.1 0.02 20.957103 ATCxTGT COVERED NOVEL TTN-018 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000450680.2 5 22.867401 KEEP 0 0 0 76 2371 AA 1 1 0 - 34 60 1237 0 0 86.916091 437 60 16149 670 ENST00000589042.1 0.072187 1 TTN 7273 __UNKNOWN__ __UNKNOWN__ 2 179479245 179479245 __UNKNOWN__ Silent SNP C C T rs72677244 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:179479245C>T ENST00000589042.1 - 261 49220 c.48996G>A c.(48994-48996)gaG>gaA p.E16332E TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Silent_p.E13764E|TTN_ENST00000342175.6_Silent_p.E7459E|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Silent_p.E14691E|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Silent_p.E7267E|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.E7392E NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 14691 Ig-like 100. NA adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941) condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018) actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CATTCACAGCCTCAATGATAT 0.418 NA C||| 363 0.072484 0.0847 0.0231 5008 , , NA 18504 0.1567 NA 0.0209 False NA ,,, NA NA NA 2504 0.0573 NA NA NA NA 0 C ,,, 251,3699 7,237,1731 96 92 94 21801,41292,22176,22377 2.9 1 2 dbSNP_130 94 105,8175 1,103,4036 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous TTN NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3 ,,, 8,340,5767 TT,TC,CC 1.2681,6.3544,2.9109 ,,, 7267/26927,13764/33424,7392/27052,7459/27119 179479245 356,11874 1975 4140 6115 SO:0001819 synonymous_variant X90568 CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1 2q31 2014-09-17 2004-02-13 ENSG00000155657 ENSG00000155657 7273 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing 12403 protein-coding gene gene with protein product 188840 cardiomyopathy, dilated 1G (autosomal dominant) CMD1G NA 2129545, 10051295 Standard NM_133378 NM_003319 NA Approved CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5 uc031rqd.1 Q8WZ42 OTTHUMG00000154448 ENST00000589042.1:c.48996G>A chr2.hg19:g.179479245C>T NA A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9 hg19 CCDS59435.1 0.02 24.497274 AGCxTCA COVERED NOVEL TTN-018 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000450680.2 1 19.564402 KEEP 0 0 0 65 2375 CC 1 1 0 - 34 60 1248 0 0 87.280112 465 60 17671 673 ENST00000589042.1 0.068136 1 TTN 7273 __UNKNOWN__ __UNKNOWN__ 2 179497025 179497025 __UNKNOWN__ Silent SNP A A G rs16866423 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:179497025A>G ENST00000589042.1 - 236 43820 c.43596T>C c.(43594-43596)aaT>aaC p.N14532N TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Silent_p.N11964N|TTN_ENST00000342175.6_Silent_p.N5659N|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Silent_p.N12891N|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Silent_p.N5467N|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Silent_p.N5592N NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 12891 Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}. NA adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941) condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018) actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GGCGCTGGTCATTCTTGAACC 0.443 NA A||| 198 0.0395367 0.0008 0.0058 5008 , , NA 16883 0.1448 NA 0.008 False NA ,,, NA NA NA 2504 0.0399 NA NA NA NA 0 A ,,, 4,3864 0,4,1930 111 103 106 16401,35892,16776,16977 -3.5 0.9 2 dbSNP_123 106 30,8276 0,30,4123 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous TTN NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3 ,,, 0,34,6053 GG,GA,AA 0.3612,0.1034,0.2793 ,,, 5467/26927,11964/33424,5592/27052,5659/27119 179497025 34,12140 1934 4153 6087 SO:0001819 synonymous_variant X90568 CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1 2q31 2014-09-17 2004-02-13 ENSG00000155657 ENSG00000155657 7273 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing 12403 protein-coding gene gene with protein product 188840 cardiomyopathy, dilated 1G (autosomal dominant) CMD1G NA 2129545, 10051295 Standard NM_133378 NM_003319 NA Approved CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5 uc031rqd.1 Q8WZ42 OTTHUMG00000154448 ENST00000589042.1:c.43596T>C chr2.hg19:g.179497025A>G NA A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9 hg19 CCDS59435.1 0.02 10.5341 GTCxTTC COVERED NOVEL TTN-018 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000450680.2 0 15.644658 KEEP 0 0 0 52 1598 AA 1 1 0 - 16 60 538 0 0 35.28466 247 60 8921 395 ENST00000589042.1 0.060837 1 TTN 7273 __UNKNOWN__ __UNKNOWN__ 2 179515483 179515483 __UNKNOWN__ Missense_Mutation SNP G G C rs72650066 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:179515483G>C ENST00000589042.1 - 209 39928 c.39704C>G c.(39703-39705)cCa>cGa p.P13235R TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P10801R|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P11728R|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 10380 Ig-like 88. NA adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941) condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018) actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGTACCTTCTGGGGGAGGAGA 0.418 NA G||| 197 0.0393371 0.0008 0.0058 5008 , , NA 17978 0.1438 NA 0.008 False NA ,,, NA NA NA 2504 0.0399 NA NA NA NA 0 G ,,,ARG/PRO 4,3778 0,4,1887 48 52 51 ,,,32402 3.1 0.5 2 dbSNP_130 51 28,8174 0,28,4073 yes intron,intron,intron,missense TTN NM_003319.4,NM_133432.3,NM_133437.3,NM_133378.4 ,,,103 0,32,5960 CC,CG,GG 0.3414,0.1058,0.267 ,,,benign ,,,10801/33424 179515483 32,11952 1891 4101 5992 SO:0001583 missense X90568 CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1 2q31 2014-09-17 2004-02-13 ENSG00000155657 ENSG00000155657 7273 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing 12403 protein-coding gene gene with protein product 188840 cardiomyopathy, dilated 1G (autosomal dominant) CMD1G NA 2129545, 10051295 Standard NM_133378 NM_003319 NA Approved CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5 uc031rqd.1 Q8WZ42 OTTHUMG00000154448 ENST00000589042.1:c.39704C>G chr2.hg19:g.179515483G>C ENSP00000467141:p.Pro13235Arg NA A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9 hg19 CCDS59435.1 0.02 13.604558 TCTxGGG COVERED 93 0.042582417582417584 2 0.0040650406504065045 2 0.0055248618784530384 84 0.14685314685314685 5 0.006596306068601583 G 13.40 2.225023 0.39300 0.001058 0.003414 ENSG00000155657 ENST00000342992;ENST00000429997;ENST00000446966;ENST00000434777 T 0.63255 -0.03 4.91 3.08 0.35506 Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1); . . . . T 0.00271 0.0008 N 0.08118 0 0.27102 P 0.9625809 B 0.14438 0.01 B 0.14023 0.01 T 0.05801 -1.0863 8 0.87932 D 0 . 11.6436 0.51249 0.0:0.1349:0.7247:0.1404 . 11728 Q8WZ42 TITIN_HUMAN R 10801;74;74;28 ENSP00000343764:P10801R ENSP00000343764:P10801R P - 2 0 TTN 179223728 0.001000 0.12720 0.483000 0.27378 0.260000 0.26232 0.745000 0.26259 0.572000 0.29383 -0.127000 0.14921 CCA NOVEL TTN-018 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000450680.2 1 12.338785 KEEP 0 0 0 41 1466 GG 1 1 0 - 20 60 699 0 0 46.620011 313 60 11920 465 ENST00000589042.1 0.06006 1 TTN 7273 __UNKNOWN__ __UNKNOWN__ 2 179515979 179515979 __UNKNOWN__ Missense_Mutation SNP G G A rs186404793 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:179515979G>A ENST00000589042.1 - 208 39840 c.39616C>T c.(39616-39618)Cca>Tca p.P13206S TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P10772S|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P11699S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 10351 Ig-like 87. NA adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941) condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018) actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CCTTTTGCTGGTGGGACTTCT 0.368 NA G||| 12 0.00239617 0.0 0.0 5008 , , NA 17357 0.0109 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 138 133 135 NA NA 2 NA 179515979 1871 4108 5979 SO:0001583 missense X90568 CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1 2q31 2014-09-17 2004-02-13 ENSG00000155657 ENSG00000155657 7273 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing 12403 protein-coding gene gene with protein product 188840 cardiomyopathy, dilated 1G (autosomal dominant) CMD1G NA 2129545, 10051295 Standard NM_133378 NM_003319 NA Approved CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5 uc031rqd.1 Q8WZ42 OTTHUMG00000154448 ENST00000589042.1:c.39616C>T chr2.hg19:g.179515979G>A ENSP00000467141:p.Pro13206Ser NA A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9 hg19 CCDS59435.1 0.02 16.86627 CTGxTGG COVERED 8|8 0.003663003663003663|0.003663003663003663 0|0 0.0|0.0 0|0 0.0|0.0 8|8 0.013986013986013986|0.013986013986013986 0|0 0.0|0.0 G|G 14.22|14.22 2.469633|2.469633 0.43839|0.43839 .|. .|. ENSG00000155657|ENSG00000155657 ENST00000342992;ENST00000429997;ENST00000446966|ENST00000426232 T;T|. 0.65549|. -0.16;-0.16|. 5.58|5.58 2.59|2.59 0.31030|0.31030 Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);|. .|. .|. .|. .|. T|T 0.67373|0.67373 0.2886|0.2886 M|M 0.76727|0.76727 2.345|2.345 0.58432|0.58432 D|D 0.999997|0.999997 B|. 0.23442|. 0.085|. B|. 0.31614|. 0.133|. T|T 0.71616|0.71616 -0.4539|-0.4539 9|5 0.87932|. D|. 0|. .|. 16.4972|16.4972 0.84248|0.84248 0.0:0.5112:0.4888:0.0|0.0:0.5112:0.4888:0.0 .|. 11699|. Q8WZ42|. TITIN_HUMAN|. S|I 10772;45;45|46 ENSP00000343764:P10772S;ENSP00000408004:P45S|. ENSP00000343764:P10772S|. P|T -|- 1|2 0|0 TTN|TTN 179224224|179224224 0.996000|0.996000 0.38824|0.38824 0.426000|0.426000 0.26672|0.26672 0.993000|0.993000 0.82548|0.82548 1.160000|1.160000 0.31761|0.31761 0.226000|0.226000 0.20979|0.20979 0.655000|0.655000 0.94253|0.94253 CCA|ACC NOVEL TTN-018 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000450680.2 2 21.369724 KEEP 0 0 0 71 2524 GG 1 1 0 - 38 60 1411 0 0 106.055217 332 60 12408 591 ENST00000589042.1 0.102703 1 TTN 7273 __UNKNOWN__ __UNKNOWN__ 2 179589058 179589058 __UNKNOWN__ Missense_Mutation SNP G G A rs72648960 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:179589058G>A ENST00000589042.1 - 72 21268 c.21044C>T c.(21043-21045)gCa>gTa p.A7015V TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A5771V|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.A6698V|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6698 Ig-like 52. NA adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941) condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018) actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTATGTGCCTGCATCTTGCCT 0.413 NA G||| 179 0.0357428 0.0008 0.0058 5008 , , NA 22442 0.1379 NA 0.008 False NA ,,, NA NA NA 2504 0.0276 NA NA NA NA 0 G ,,,VAL/ALA 6,3822 0,6,1908 80 77 78 ,,,17312 6 1 2 dbSNP_130 78 26,8230 0,26,4102 yes intron,intron,intron,missense TTN NM_003319.4,NM_133432.3,NM_133437.3,NM_133378.4 ,,,64 0,32,6010 AA,AG,GG 0.3149,0.1567,0.2648 ,,,benign ,,,5771/33424 179589058 32,12052 1914 4128 6042 SO:0001583 missense X90568 CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1 2q31 2014-09-17 2004-02-13 ENSG00000155657 ENSG00000155657 7273 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing 12403 protein-coding gene gene with protein product 188840 cardiomyopathy, dilated 1G (autosomal dominant) CMD1G NA 2129545, 10051295 Standard NM_133378 NM_003319 NA Approved CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5 uc031rqd.1 Q8WZ42 OTTHUMG00000154448 ENST00000589042.1:c.21044C>T chr2.hg19:g.179589058G>A ENSP00000467141:p.Ala7015Val NA A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9 hg19 CCDS59435.1 0.02 26.585786 CCTxCAT COVERED 88 0.040293040293040296 2 0.0040650406504065045 1 0.0027624309392265192 80 0.13986013986013987 5 0.006596306068601583 G 13.74 2.327649 0.41197 0.001567 0.003149 ENSG00000155657 ENST00000342992 T 0.68479 -0.33 6.02 6.02 0.97574 Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1); . . . . T 0.00695 0.0023 L 0.31804 0.96 0.80722 D 1 B 0.24043 0.096 B 0.28385 0.089 T 0.01810 -1.1269 9 0.87932 D 0 . 16.243 0.82426 0.0:0.168:0.832:0.0 . 6698 Q8WZ42 TITIN_HUMAN V 5771 ENSP00000343764:A5771V ENSP00000343764:A5771V A - 2 0 TTN 179297303 1.000000 0.71417 1.000000 0.80357 0.990000 0.78478 1.712000 0.37940 2.865000 0.98341 0.655000 0.94253 GCA NOVEL TTN-018 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000450680.2 6 27.991504 KEEP 0 0 0 93 3349 GG 1 1 0 - 66 60 2356 0 0 176.219863 546 60 20707 862 ENST00000589042.1 0.107843 1 CCDC141 285025 __UNKNOWN__ __UNKNOWN__ 2 179770175 179770175 __UNKNOWN__ Missense_Mutation SNP C C A rs34883828 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:179770175C>A ENST00000409284.1 - 8 1263 c.1146G>T c.(1144-1146)gaG>gaT p.E382D CCDC141_ENST00000420890.2_Missense_Mutation_p.E382D Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 382 NA NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) GACTTAAACCCTCTGATTTAA 0.368 NA C||| 463 0.0924521 0.1475 0.0735 5008 , , NA 20684 0.0327 NA 0.1213 False NA ,,, NA NA NA 2504 0.0634 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense AK096821 2q31.2 2013-01-14 ENSG00000163492 ENSG00000163492 285025 Immunoglobulin superfamily / Immunoglobulin-like domain containing 26821 protein-coding gene gene with protein product coiled-coil protein associated with myosin II and DISC1 NA 20956536 Standard NM_173648 NM_173648 NA Approved FLJ39502, CAMDI uc002une.2 Q6ZP82 OTTHUMG00000132578 ENST00000409284.1:c.1146G>T chr2.hg19:g.179770175C>A ENSP00000386503:p.Glu382Asp NA H7C0P1|J3KNW6|Q8N8H3 hg19 0.02 11.699191 ACCxTCT COVERED 229 0.10485347985347986 80 0.16260162601626016 36 0.09944751381215469 21 0.03671328671328671 92 0.12137203166226913 C 18.39 3.614591 0.66672 . . ENSG00000163492 ENST00000420890;ENST00000443758;ENST00000446116;ENST00000409284 T;T 0.52295 0.67;1.28 5.8 0.621 0.17643 . . . . . T 0.00356 0.0011 M 0.67953 2.075 0.09310 P 0.999999999992799 D 0.67145 0.996 P 0.60473 0.875 T 0.13737 -1.0498 7 . . . . 9.5008 0.39017 0.0:0.4311:0.0:0.5688 rs34883828;rs57902438;rs61738070 382 B8ZZB3 . D 382;382;317;382 ENSP00000395995:E382D;ENSP00000390190:E382D . E - 3 2 CCDC141 179478420 1.000000 0.71417 0.985000 0.45067 0.919000 0.55068 0.372000 0.20467 -0.170000 0.10816 0.650000 0.86243 GAG NOVEL CCDC141-003 PUTATIVE basic protein_coding NA protein_coding OTTHUMT00000335873.1 2 12.675531 KEEP 0 1 28 52 1884 CC 1 1 0 - 26 60 970 0 0 71.912185 252 60 9536 397 ENST00000409284.1 0.093525 1 ZNF385B 151126 __UNKNOWN__ __UNKNOWN__ 2 180311207 180311207 __UNKNOWN__ Intron SNP G G A rs2271760 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:180311207G>A ENST00000410066.1 - 7 1520 ZNF385B_ENST00000409343.1_Intron|ZNF385B_ENST00000409692.1_Intron|ZNF385B_ENST00000336917.5_Intron|ZNF385B_ENST00000466398.1_Intron NM_152520.4 NP_689733.3 Q569K4 Z385B_HUMAN zinc finger protein 385B NA NA intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332) nucleus (GO:0005634) nucleic acid binding (GO:0003676)|p53 binding (GO:0002039)|zinc ion binding (GO:0008270) breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 26 Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201) GGAAAAGTTGGGTTTTGTTAT 0.368 NA G||| 954 0.190495 0.0832 0.2017 5008 , , NA 18782 0.3274 NA 0.1064 False NA ,,, NA NA NA 2504 0.273 NA NA NA Colon(155;204 2491 32774 51842) NA 0 G ,, 362,4044 181.2+/-209.3 13,336,1854 56 57 56 ,, 3 0 2 dbSNP_100 56 802,7798 187.6+/-234.8 47,708,3545 no intron,intron,intron ZNF385B NM_001113397.1,NM_001113398.1,NM_152520.4 ,, 60,1044,5399 AA,AG,GG 9.3256,8.2161,8.9497 ,, ,, 180311207 1164,11842 2203 4300 6503 SO:0001627 intron_variant AK057999 CCDS33339.1, CCDS46463.1, CCDS46464.1 2q31.3-q32.1 2012-10-05 2007-12-06 2007-12-06 ENSG00000144331 ENSG00000144331 151126 26332 protein-coding gene gene with protein product 612344 zinc finger protein 533 ZNF533 NA 12477932 Standard NM_152520 NM_152520 NA Approved FLJ25270 uc002unn.4 Q569K4 OTTHUMG00000154559 ENST00000410066.1:c.916+44C>T chr2.hg19:g.180311207G>A NA Q49A04|Q6ZMZ7|Q8IY01|Q8N8H2|Q96DK4 hg19 CCDS33339.1 0.02 2.024342 TTGxGTT COVERED NOVEL ZNF385B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000335972.1 1 5.718406 KEEP 0 0 0 19 655 GG 0.99986 0.999586 0 - 10 60 348 0 0 26.096094 77 60 2743 113 ENST00000410066.1 0.114943 0.999726 CWC22 57703 __UNKNOWN__ __UNKNOWN__ 2 180810202 180810202 __UNKNOWN__ Missense_Mutation SNP C C T rs1046356 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:180810202C>T ENST00000410053.3 - 20 2680 c.2381G>A c.(2380-2382)cGa>cAa p.R794Q CWC22_ENST00000295749.6_Missense_Mutation_p.R794Q NM_020943.2 NP_065994.1 Q9HCG8 CWC22_HUMAN CWC22 spliceosome-associated protein 794 NA R -> Q (in dbSNP:rs1046356). mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024) catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681) RNA binding (GO:0003723) NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1) 30 GTAGTTATTTCGTTCAGAAGG 0.368 NA C||| 477 0.0952476 0.0492 0.0965 5008 , , NA 19686 0.2312 NA 0.0596 False NA ,,, NA NA NA 2504 0.0532 NA NA NA NA 0 C GLN/ARG 231,3497 13,205,1646 228 216 220 2381 3.2 1 2 dbSNP_86 220 485,7731 11,463,3634 yes missense CWC22 NM_020943.2 43 24,668,5280 TT,TC,CC 5.9031,6.1964,5.9946 possibly-damaging 794/909 180810202 716,11228 1864 4108 5972 SO:0001583 missense CCDS46465.1 2q31.3 2014-07-03 2014-07-03 ENSG00000163510 ENSG00000163510 57703 29322 protein-coding gene gene with protein product functional spliceosome-associated protein b 615186 CWC22 spliceosome-associated protein homolog (S. cerevisiae) NA 9136012, 23236153 Standard NM_020943 NM_020943 NA Approved KIAA1604, EIF4GL, fSAPb, NCM uc010frh.1 Q9HCG8 OTTHUMG00000154244 ENST00000410053.3:c.2381G>A chr2.hg19:g.180810202C>T ENSP00000387006:p.Arg794Gln NA Q05DC2|Q4G135|Q52LF0|Q6PEX2|Q7Z6I0|Q9H5L3|Q9H6Q6 hg19 CCDS46465.1 0.02 19.130771 TTTxGTT COVERED 233 0.10668498168498168 18 0.036585365853658534 42 0.11602209944751381 129 0.22552447552447552 44 0.05804749340369393 C 12.98 2.101319 0.37048 0.061964 0.059031 ENSG00000163510 ENST00000410053;ENST00000295749 T;T 0.19938 2.11;2.11 5.02 3.19 0.36642 . 0.651645 0.14788 N 0.298387 T 0.00012 0.0000 L 0.50333 1.59 0.30540 P 0.766562 B 0.33494 0.414 B 0.22152 0.038 T 0.28744 -1.0034 9 0.40728 T 0.16 -1.6205 8.204 0.31441 0.0:0.8138:0.0:0.1862 rs1046356;rs52820756;rs59173152;rs1046356 794 Q9HCG8 CWC22_HUMAN Q 794 ENSP00000387006:R794Q;ENSP00000295749:R794Q ENSP00000295749:R794Q R - 2 0 CWC22 180518447 1.000000 0.71417 0.953000 0.39169 0.428000 0.31595 2.006000 0.40874 0.605000 0.29947 0.655000 0.94253 CGA NOVEL CWC22-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000334537.1 4 18.958558 KEEP 0 0 0 63 2050 CC 1 1 0 - 29 60 1041 0 0 70.896972 433 60 15518 583 ENST00000410053.3 0.062771 1 PPP1R1C 151242 __UNKNOWN__ __UNKNOWN__ 2 182852729 182852729 __UNKNOWN__ Intron SNP A A G rs16867515 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:182852729A>G ENST00000280295.3 + 2 397 PPP1R1C_ENST00000475249.1_Intron|PPP1R1C_ENST00000409702.1_Intron|PPP1R1C_ENST00000452904.1_Intron|PPP1R1C_ENST00000409137.3_Intron Q8WVI7 PPR1C_HUMAN protein phosphatase 1, regulatory (inhibitor) subunit 1C NA NA cell cycle (GO:0007049)|cell division (GO:0051301)|negative regulation of catalytic activity (GO:0043086)|positive regulation of cell growth (GO:0030307)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|signal transduction (GO:0007165) cytoplasm (GO:0005737) protein phosphatase inhibitor activity (GO:0004864) NS(1)|breast(1)|endometrium(2)|large_intestine(2) 6 OV - Ovarian serous cystadenocarcinoma(117;0.0628) AGGATTTCACAGTTAGCAATA 0.328 NA A||| 580 0.115815 0.1815 0.1239 5008 , , NA 21268 0.1329 NA 0.0805 False NA ,,, NA NA NA 2504 0.0399 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF494535, BC017943 CCDS46468.1, CCDS58740.1 2q31.3 2012-04-17 ENSG00000150722 ENSG00000150722 151242 Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits 14940 protein-coding gene gene with protein product 613240 NA 11948623 Standard NM_001080545 NM_001261424 NA Approved Inhibitor-1-like uc010frm.2 Q8WVI7 OTTHUMG00000154326 ENST00000280295.3:c.163+103A>G chr2.hg19:g.182852729A>G NA Q5HYJ5|Q8TD54 hg19 CCDS58740.1 0.02 3.769147 CACxGTT COVERED NOVEL PPP1R1C-004 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000334875.1 3 3.912006 KEEP 0 0 0 13 409 AA 0.994391 0.994391 0 + 14 60 488 0 0 35.321227 135 60 5017 165 ENST00000280295.3 0.09396 1 FSIP2 401024 __UNKNOWN__ __UNKNOWN__ 2 186629191 186629191 __UNKNOWN__ Intron SNP T T G rs12998112 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:186629191T>G ENST00000424728.1 + 13 1347 FSIP2_ENST00000343098.5_Intron|FSIP2_ENST00000546113.1_Intron Q5CZC0 FSIP2_HUMAN fibrous sheath interacting protein 2 NA NA NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 AAATTTTTTTTTGTGGATCTA 0.294 NA T||| 1632 0.325879 0.2451 0.3545 5008 , , NA 14893 0.4097 NA 0.3668 False NA ,,, NA NA NA 2504 0.2863 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK092099 CCDS54426.1 2q32.1 2010-06-18 ENSG00000188738 ENSG00000188738 401024 21675 protein-coding gene gene with protein product 615796 NA 14702039 Standard NM_173651 NM_173651 NA Approved FLJ34780 uc002upl.3 Q5CZC0 OTTHUMG00000153874 ENST00000424728.1:c.1348-38T>G chr2.hg19:g.186629191T>G NA Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21 hg19 0.02 4.87129 TTTxTGT COVERED NOVEL FSIP2-001 KNOWN basic protein_coding NA protein_coding OTTHUMT00000332778.3 0 6.016595 KEEP 0 0 0 20 607 TT 0.999863 0.99984 0 + 7 60 271 0 0 19.333381 96 60 3456 147 ENST00000424728.1 0.067961 0.999978 FSIP2 401024 __UNKNOWN__ __UNKNOWN__ 2 186668935 186668935 __UNKNOWN__ Missense_Mutation SNP A A G rs13003744 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:186668935A>G ENST00000424728.1 + 17 14902 c.14902A>G c.(14902-14904)Atg>Gtg p.M4968V FSIP2_ENST00000343098.5_Missense_Mutation_p.M5057V Q5CZC0 FSIP2_HUMAN fibrous sheath interacting protein 2 4968 NA NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 TTCACATAACATGTTGGTTAC 0.323 NA A||| 1631 0.325679 0.2458 0.3559 5008 , , NA 16812 0.4077 NA 0.3658 False NA ,,, NA NA NA 2504 0.2863 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense AK092099 CCDS54426.1 2q32.1 2010-06-18 ENSG00000188738 ENSG00000188738 401024 21675 protein-coding gene gene with protein product 615796 NA 14702039 Standard NM_173651 NM_173651 NA Approved FLJ34780 uc002upl.3 Q5CZC0 OTTHUMG00000153874 ENST00000424728.1:c.14902A>G chr2.hg19:g.186668935A>G ENSP00000401306:p.Met4968Val NA Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21 hg19 0.02 7.05351 AACxTGT COVERED 752 0.3443223443223443 114 0.23170731707317074 123 0.3397790055248619 234 0.4090909090909091 281 0.370712401055409 A 0.001 -3.165623 0.00028 . . ENSG00000188738 ENST00000343098;ENST00000424728 T;T 0.37915 1.17;1.17 5.78 1.24 0.21308 . . . . . T 0.00012 0.0000 N 0.03608 -0.345 0.80722 P 0.0 . . . . . . T 0.45469 -0.9259 6 0.02654 T 1 . 7.2171 0.25965 0.0879:0.0:0.4664:0.4458 rs13003744;rs17229721;rs58994879 . . . V 5057;4968 ENSP00000344403:M5057V;ENSP00000401306:M4968V ENSP00000344403:M5057V M + 1 0 FSIP2 186377180 0.002000 0.14202 0.027000 0.17364 0.081000 0.17604 0.032000 0.13732 0.296000 0.22592 -0.472000 0.04984 ATG NOVEL FSIP2-001 KNOWN basic protein_coding NA protein_coding OTTHUMT00000332778.3 0 7.221425 KEEP 0 0 0 24 746 AA 0.999909 0.999909 0 + 12 60 436 0 0 30.43011 160 60 5919 231 ENST00000424728.1 0.069767 1 FSIP2 401024 __UNKNOWN__ __UNKNOWN__ 2 186672897 186672897 __UNKNOWN__ Silent SNP A A G rs4666690 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:186672897A>G ENST00000424728.1 + 17 18864 c.18864A>G c.(18862-18864)ttA>ttG p.L6288L FSIP2_ENST00000343098.5_Silent_p.L6377L Q5CZC0 FSIP2_HUMAN fibrous sheath interacting protein 2 6288 NA NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 TAGGCTTTTTAATGGTGAATG 0.323 NA A||| 1637 0.326877 0.2451 0.3559 5008 , , NA 17961 0.4077 NA 0.3658 False NA ,,, NA NA NA 2504 0.2935 NA NA NA NA 0 A 874,2742 97,680,1031 46 43 44 19131 3.3 1 2 dbSNP_111 44 2881,5255 502,1877,1689 no coding-synonymous FSIP2 NM_173651.2 599,2557,2720 GG,GA,AA 35.4105,24.1704,31.952 6377/6997 186672897 3755,7997 1808 4068 5876 SO:0001819 synonymous_variant AK092099 CCDS54426.1 2q32.1 2010-06-18 ENSG00000188738 ENSG00000188738 401024 21675 protein-coding gene gene with protein product 615796 NA 14702039 Standard NM_173651 NM_173651 NA Approved FLJ34780 uc002upl.3 Q5CZC0 OTTHUMG00000153874 ENST00000424728.1:c.18864A>G chr2.hg19:g.186672897A>G NA Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21 hg19 0.02 4.634535 TTTxATG COVERED NOVEL FSIP2-001 KNOWN basic protein_coding NA protein_coding OTTHUMT00000332778.3 1 8.422202 KEEP 0 0 0 28 830 AA 0.999997 0.999997 0 + 7 60 271 0 0 18.603711 123 60 4442 184 ENST00000424728.1 0.053846 1 FAM171B 165215 __UNKNOWN__ __UNKNOWN__ 2 187558960 187558960 __UNKNOWN__ Silent SNP G G A rs2276562 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:187558960G>A ENST00000304698.5 + 1 263 c.60G>A c.(58-60)ctG>ctA p.L20L AC017101.10_ENST00000453665.1_RNA NM_177454.3 NP_803237.3 Q6P995 F171B_HUMAN family with sequence similarity 171, member B 20 NA integral component of membrane (GO:0016021) DNA binding (GO:0003677) NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 CCGTGGTGCTGCTGAAAGCGC 0.687 NA G||| 1446 0.288738 0.0598 0.2939 5008 , , NA 12251 0.7153 NA 0.2624 False NA ,,, NA NA NA 2504 0.182 NA NA NA NA 0 G 333,3951 10,313,1819 12 14 13 60 2 1 2 dbSNP_100 13 1773,6647 180,1413,2617 no coding-synonymous FAM171B NM_177454.3 190,1726,4436 AA,AG,GG 21.057,7.7731,16.5775 20/827 187558960 2106,10598 2142 4210 6352 SO:0001819 synonymous_variant AF361495 CCDS33347.1 2q32.2 2008-06-16 2008-06-16 2008-06-16 ENSG00000144369 ENSG00000144369 165215 29412 protein-coding gene gene with protein product KIAA1946 KIAA1946 NA 11853319 Standard NM_177454 NM_177454 NA Approved FLJ34104 uc002ups.3 Q6P995 OTTHUMG00000154278 ENST00000304698.5:c.60G>A chr2.hg19:g.187558960G>A NA Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8 hg19 CCDS33347.1 0.02 7.848715 GCTxCTG COVERED NOVEL FAM171B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000334679.1 2 48.758112 KEEP 0 0 0 162 5743 GG 1 1 0 + 12 60 404 0 0 25.48141 228 60 8531 532 ENST00000304698.5 0.05 1 FAM171B 165215 __UNKNOWN__ __UNKNOWN__ 2 187629066 187629066 __UNKNOWN__ 3'UTR SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:187629066C>T ENST00000304698.5 + 0 4200 NM_177454.3 NP_803237.3 Q6P995 F171B_HUMAN family with sequence similarity 171, member B NA NA integral component of membrane (GO:0016021) DNA binding (GO:0003677) NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 CAACTTCTAACGTGTCAAATA 0.348 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF361495 CCDS33347.1 2q32.2 2008-06-16 2008-06-16 2008-06-16 ENSG00000144369 ENSG00000144369 165215 29412 protein-coding gene gene with protein product KIAA1946 KIAA1946 NA 11853319 Standard NM_177454 NM_177454 NA Approved FLJ34104 uc002ups.3 Q6P995 OTTHUMG00000154278 ENST00000304698.5:c.*1516C>T chr2.hg19:g.187629066C>T NA Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8 hg19 CCDS33347.1 0.02 4.182484 TAAxGTG COVERED NOVEL FAM171B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000334679.1 3 9.931435 KEEP 0 0 0 33 1125 CC 0.999998 0.999998 0 + 12 60 435 0 0 31.60432 124 60 4369 204 ENST00000304698.5 0.088235 1 FAM171B 165215 __UNKNOWN__ __UNKNOWN__ 2 187630546 187630546 __UNKNOWN__ 3'UTR SNP G G C rs718259 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:187630546G>C ENST00000304698.5 + 0 5680 NM_177454.3 NP_803237.3 Q6P995 F171B_HUMAN family with sequence similarity 171, member B NA NA integral component of membrane (GO:0016021) DNA binding (GO:0003677) NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 TCTATTTTTTGTATTCTTTCA 0.308 NA G||| 1388 0.277157 0.0431 0.2968 5008 , , NA 15818 0.7034 NA 0.2674 False NA ,,, NA NA NA 2504 0.1503 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF361495 CCDS33347.1 2q32.2 2008-06-16 2008-06-16 2008-06-16 ENSG00000144369 ENSG00000144369 165215 29412 protein-coding gene gene with protein product KIAA1946 KIAA1946 NA 11853319 Standard NM_177454 NM_177454 NA Approved FLJ34104 uc002ups.3 Q6P995 OTTHUMG00000154278 ENST00000304698.5:c.*2996G>C chr2.hg19:g.187630546G>C NA Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8 hg19 CCDS33347.1 0.02 6.90149 TTTxTAT COVERED NOVEL FAM171B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000334679.1 3 12.039586 KEEP 0 0 0 40 1445 GG 1 1 0 + 13 60 486 0 0 34.600736 165 60 6213 256 ENST00000304698.5 0.073034 1 GULP1 51454 __UNKNOWN__ __UNKNOWN__ 2 189447208 189447208 __UNKNOWN__ Intron SNP A A G rs371961737 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:189447208A>G ENST00000409580.1 + 11 1323 GULP1_ENST00000409805.1_Intron|GULP1_ENST00000359135.3_Intron|GULP1_ENST00000409843.1_Intron|GULP1_ENST00000409830.1_Intron|GULP1_ENST00000409609.1_Intron Q9UBP9 GULP1_HUMAN GULP, engulfment adaptor PTB domain containing 1 NA NA apoptotic process (GO:0006915)|lipid transport (GO:0006869)|phagocytosis, engulfment (GO:0006911)|signal transduction (GO:0007165) cytoplasm (GO:0005737) signal transducer activity (GO:0004871) endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(2) 13 OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158) CTGATTCCAGACTATCACTGG 0.458 NA A||| 1 0.000199681 0.0 0.0 5008 , , NA 18066 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA Pancreas(178;563 2065 20199 42378 52815) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF191771 CCDS2295.1, CCDS58742.1, CCDS58743.1 2q32.3-q33 2008-02-05 ENSG00000144366 ENSG00000144366 51454 18649 protein-coding gene gene with protein product 608165 NA 11729193 Standard NM_016315 NM_001252668 NA Approved CED6, CED-6, GULP uc010fru.3 Q9UBP9 OTTHUMG00000132647 ENST00000409580.1:c.610-1784A>G chr2.hg19:g.189447208A>G NA B2RB51|B4DQ40|B8ZZ72|D3DPH1|E9PB86|Q53PC1|Q53RF3|Q9BVL3 hg19 CCDS2295.1 0.02 6.608322 CAGxCTA COVERED . . . . . . . . . . A 8.620 0.891265 0.17613 . . ENSG00000144366 ENST00000433052 . . . 4.26 4.26 0.50523 . . . . . T 0.63058 0.2479 . . . 0.80722 D 1 . . . . . . T 0.62011 -0.6944 4 . . . . 11.8036 0.52141 1.0:0.0:0.0:0.0 . . . . G 60 . . D + 2 0 GULP1 189155453 1.000000 0.71417 0.999000 0.59377 0.774000 0.43823 4.515000 0.60489 1.869000 0.54173 0.383000 0.25322 GAC NOVEL GULP1-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000335722.1 2 12.336918 KEEP 0 0 0 41 1305 AA 1 1 0 + 10 60 371 0 0 24.635141 190 60 6778 295 ENST00000409580.1 0.05 1 GULP1 51454 __UNKNOWN__ __UNKNOWN__ 2 189456572 189456572 __UNKNOWN__ Intron SNP C C T rs3768661 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:189456572C>T ENST00000409580.1 + 13 1557 GULP1_ENST00000409805.1_Intron|GULP1_ENST00000359135.3_Intron|GULP1_ENST00000409843.1_Intron|GULP1_ENST00000409830.1_Intron|GULP1_ENST00000409609.1_Intron Q9UBP9 GULP1_HUMAN GULP, engulfment adaptor PTB domain containing 1 NA NA apoptotic process (GO:0006915)|lipid transport (GO:0006869)|phagocytosis, engulfment (GO:0006911)|signal transduction (GO:0007165) cytoplasm (GO:0005737) signal transducer activity (GO:0004871) endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(2) 13 OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158) CAAAATCTTTCGTATAAAAAG 0.244 NA C||| 183 0.0365415 0.0023 0.0173 5008 , , NA 13081 0.1528 NA 0.0089 False NA ,,, NA NA NA 2504 0.0051 NA NA NA Pancreas(178;563 2065 20199 42378 52815) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF191771 CCDS2295.1, CCDS58742.1, CCDS58743.1 2q32.3-q33 2008-02-05 ENSG00000144366 ENSG00000144366 51454 18649 protein-coding gene gene with protein product 608165 NA 11729193 Standard NM_016315 NM_001252668 NA Approved CED6, CED-6, GULP uc010fru.3 Q9UBP9 OTTHUMG00000132647 ENST00000409580.1:c.844-2095C>T chr2.hg19:g.189456572C>T NA B2RB51|B4DQ40|B8ZZ72|D3DPH1|E9PB86|Q53PC1|Q53RF3|Q9BVL3 hg19 CCDS2295.1 0.02 1.89819 TTTxGTA COVERED NOVEL GULP1-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000335722.1 2 4.815404 KEEP 0 0 0 16 544 CC 0.997832 0.997667 0 + 5 60 181 0 0 12.102014 85 60 3134 126 ENST00000409580.1 0.055556 0.999835 ANKAR 150709 __UNKNOWN__ __UNKNOWN__ 2 190561060 190561060 __UNKNOWN__ Missense_Mutation SNP A A G rs113995284 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:190561060A>G ENST00000520309.1 + 7 1761 c.1673A>G c.(1672-1674)aAg>aGg p.K558R ANKAR_ENST00000313581.4_Missense_Mutation_p.K558R|ANKAR_ENST00000281412.6_Missense_Mutation_p.K322R|ANKAR_ENST00000438402.2_Missense_Mutation_p.K558R|ANKAR_ENST00000431575.2_Missense_Mutation_p.K487R NM_144708.3 NP_653309.3 Q7Z5J8 ANKAR_HUMAN ankyrin and armadillo repeat containing 558 NA integral component of membrane (GO:0016021) breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744) GCTAACTTCAAGGTCAACCAG 0.363 NA A||| 225 0.0449281 0.0817 0.013 5008 , , NA 19205 0.0238 NA 0.0278 False NA ,,, NA NA NA 2504 0.0573 NA NA NA NA 0 A ARG/LYS 279,4127 152.2+/-185.9 11,257,1935 103 98 100 1673 4.1 1 2 dbSNP_132 100 176,8424 77.8+/-140.4 2,172,4126 yes missense ANKAR NM_144708.3 26 13,429,6061 GG,GA,AA 2.0465,6.3323,3.4984 benign 558/1435 190561060 455,12551 2203 4300 6503 SO:0001583 missense AJ549812 CCDS33351.1, CCDS33351.2 2q32.2 2013-02-14 ENSG00000151687 ENSG00000151687 150709 Ankyrin repeat domain containing, Armadillo repeat containing 26350 protein-coding gene gene with protein product 609803 NA 15110750 Standard NM_144708 NM_144708 NA Approved FLJ25415 uc002uqw.2 Q7Z5J8 OTTHUMG00000154398 ENST00000520309.1:c.1673A>G chr2.hg19:g.190561060A>G ENSP00000427882:p.Lys558Arg NA Q3ZCS6|Q4G0M2|Q6ZU02 hg19 CCDS33351.2 0.02 17.016035 TCAxGGT COVERED 65 0.02976190476190476 33 0.06707317073170732 4 0.011049723756906077 12 0.02097902097902098 16 0.021108179419525065 A 11.45 1.643424 0.29246 0.063323 0.020465 ENSG00000151687 ENST00000520309;ENST00000313581;ENST00000438402;ENST00000431575;ENST00000281412 T;T;T;T;T 0.53206 0.63;0.63;0.63;0.63;0.63 5.26 4.11 0.48088 . 0.342926 0.25063 N 0.033436 T 0.02888 0.0086 N 0.20610 0.595 0.22389 N 0.99915 . . . . . . T 0.03354 -1.1045 8 0.46703 T 0.11 -16.2851 6.9078 0.24319 0.7691:0.15:0.0809:0.0 . . . . R 558;558;558;487;322 ENSP00000427882:K558R;ENSP00000313513:K558R;ENSP00000397243:K558R;ENSP00000393043:K487R;ENSP00000281412:K322R ENSP00000281412:K322R K + 2 0 ANKAR 190269305 0.988000 0.35896 0.974000 0.42286 0.303000 0.27691 2.661000 0.46758 0.835000 0.34877 -0.410000 0.06199 AAG NOVEL ANKAR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000335045.3 2 24.374685 KEEP 0 0 0 81 2635 AA 1 1 0 + 12 60 439 0 0 27.110807 341 60 12753 544 ENST00000520309.1 0.033994 1 OSGEPL1 64172 __UNKNOWN__ __UNKNOWN__ 2 190617700 190617700 __UNKNOWN__ Silent SNP T T C rs16831960 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:190617700T>C ENST00000264151.5 - 6 1071 c.969A>G c.(967-969)gcA>gcG p.A323A OSGEPL1_ENST00000522700.1_Silent_p.A323A|OSGEPL1_ENST00000519810.1_Silent_p.A323A NM_022353.2 NP_071748.2 O-sialoglycoprotein endopeptidase-like 1 NA NA large_intestine(2)|upper_aerodigestive_tract(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0293)|all cancers(119;0.0831) CACCACCAGATGCAACCTGAA 0.378 NA T||| 387 0.0772764 0.0908 0.0317 5008 , , NA 17221 0.0486 NA 0.0726 False NA ,,, NA NA NA 2504 0.1258 NA NA NA NA 0 T 304,3410 10,284,1563 61 55 57 969 -5.2 0.5 2 dbSNP_123 57 535,7667 11,513,3577 no coding-synonymous OSGEPL1 NM_022353.2 21,797,5140 CC,CT,TT 6.5228,8.1852,7.041 323/415 190617700 839,11077 1857 4101 5958 SO:0001819 synonymous_variant AJ295148 CCDS46472.1 2q32 2011-08-12 ENSG00000128694 ENSG00000128694 64172 23075 protein-coding gene gene with protein product NA 19578062 Standard NM_022353 NM_022353 NA Approved Qri7 uc002uqz.1 Q9H4B0 OTTHUMG00000164096 ENST00000264151.5:c.969A>G chr2.hg19:g.190617700T>C NA hg19 CCDS46472.1 0.02 7.509649 AGAxGCA COVERED NOVEL OSGEPL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000377257.1 0 8.725918 KEEP 0 0 0 29 925 TT 0.999997 0.999997 0 - 7 60 242 0 0 14.051927 215 60 7807 286 ENST00000264151.5 0.031532 1 ORMDL1 94101 __UNKNOWN__ __UNKNOWN__ 2 190635707 190635707 __UNKNOWN__ 3'UTR SNP A A G rs112671685 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:190635707A>G ENST00000325795.3 - 0 2034 ORMDL1_ENST00000392350.3_3'UTR Q9P0S3 ORML1_HUMAN ORMDL sphingolipid biosynthesis regulator 1 NA NA ceramide metabolic process (GO:0006672) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) breast(1)|urinary_tract(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.00177)|Epithelial(96;0.0317)|all cancers(119;0.0889) CCTTTAAATTACCATATATTT 0.299 NA A||| 224 0.0447284 0.0794 0.013 5008 , , NA 19053 0.0238 NA 0.0278 False NA ,,, NA NA NA 2504 0.0593 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS2301.1 2q32 2014-06-16 2014-06-16 ENSG00000128699 ENSG00000128699 94101 16036 protein-coding gene gene with protein product 610073 ORM1 (S. cerevisiae)-like 1, ORM1-like 1 (S. cerevisiae) NA 12093374, 23066021 Standard NM_016467 NM_016467 NA Approved uc002ure.4 Q9P0S3 OTTHUMG00000132661 ENST00000325795.3:c.*786T>C chr2.hg19:g.190635707A>G NA B2R8W3|D3DPH9 hg19 CCDS2301.1 0.02 8.736809 ATTxCCA COVERED NOVEL ORMDL1-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000335275.1 2 14.141679 KEEP 0 0 0 47 1448 AA 1 1 0 - 11 60 410 0 0 26.842669 230 60 7996 351 ENST00000325795.3 0.045643 1 PMS1 5378 __UNKNOWN__ __UNKNOWN__ 2 190722170 190722170 __UNKNOWN__ Intron SNP G G A rs735558 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:190722170G>A ENST00000441310.2 + 9 2089 PMS1_ENST00000409823.3_Intron|PMS1_ENST00000421722.1_Intron|PMS1_ENST00000432292.3_Intron|PMS1_ENST00000418224.3_Intron|PMS1_ENST00000447232.2_Intron NM_000534.4 NP_000525.1 P54277 PMS1_HUMAN PMS1 postmeiotic segregation increased 1 (S. cerevisiae) NA NA ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493) MutLalpha complex (GO:0032389)|nucleus (GO:0005634) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|mismatched DNA binding (GO:0030983)|single-stranded DNA binding (GO:0003697) breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751) AATCGTACTAGCTACCATTTC 0.413 NA Mis, N colorectal, endometrial, ovarian Direct reversal of damage;Mismatch excision repair (MMR) G||| 311 0.0621006 0.1362 0.0144 5008 , , NA 18331 0.0228 NA 0.0298 False NA ,,, NA NA NA 2504 0.0695 NA NA NA yes Rec Hereditary non-polyposis colorectal cancer 2 2q31-q33 5378 PMS1 postmeiotic segregation increased 1 (S. cerevisiae) E 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS2302.1, CCDS46473.1, CCDS46474.1, CCDS74615.1 2q31-q33 2014-09-17 2001-11-28 ENSG00000064933 ENSG00000064933 5378 9121 protein-coding gene gene with protein product 600258 postmeiotic segregation increased (S. cerevisiae) 1 PMSL1 NA 8072530 Standard NM_000534 NA Approved uc002urh.4 P54277 OTTHUMG00000132664 ENST00000441310.2:c.1856+2316G>A chr2.hg19:g.190722170G>A NA D3DPI1|Q4VAL4|Q5FBZ3|Q5FBZ6|Q5FBZ8 hg19 CCDS2302.1 0.02 25.885113 CTAxCTA COVERED NOVEL PMS1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255918.2 3 21.043062 KEEP 0 0 0 70 2520 GG 1 1 0 + 26 60 936 0 0 58.900879 609 60 23162 851 ENST00000441310.2 0.040945 1 PMS1 5378 __UNKNOWN__ __UNKNOWN__ 2 190742118 190742118 __UNKNOWN__ Missense_Mutation SNP C C T rs145103030 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:190742118C>T ENST00000441310.2 + 13 2988 c.2755C>T c.(2755-2757)Cgc>Tgc p.R919C PMS1_ENST00000409823.3_Missense_Mutation_p.R880C|PMS1_ENST00000432292.3_Missense_Mutation_p.R743C|PMS1_ENST00000418224.3_Missense_Mutation_p.R743C|PMS1_ENST00000447232.2_Missense_Mutation_p.R757C NM_000534.4 NP_000525.1 P54277 PMS1_HUMAN PMS1 postmeiotic segregation increased 1 (S. cerevisiae) 919 NA ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493) MutLalpha complex (GO:0032389)|nucleus (GO:0005634) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|mismatched DNA binding (GO:0030983)|single-stranded DNA binding (GO:0003697) breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751) TGTTCATGGTCGCCCATTTTT 0.333 NA Mis, N colorectal, endometrial, ovarian Direct reversal of damage;Mismatch excision repair (MMR) C||| 7 0.00139776 0.0 0.0 5008 , , NA 19132 0.0069 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA yes Rec Hereditary non-polyposis colorectal cancer 2 2q31-q33 5378 PMS1 postmeiotic segregation increased 1 (S. cerevisiae) E 0 120 117 118 NA NA 2 NA 190742118 2203 4300 6503 SO:0001583 missense CCDS2302.1, CCDS46473.1, CCDS46474.1, CCDS74615.1 2q31-q33 2014-09-17 2001-11-28 ENSG00000064933 ENSG00000064933 5378 9121 protein-coding gene gene with protein product 600258 postmeiotic segregation increased (S. cerevisiae) 1 PMSL1 NA 8072530 Standard NM_000534 NA Approved uc002urh.4 P54277 OTTHUMG00000132664 ENST00000441310.2:c.2755C>T chr2.hg19:g.190742118C>T ENSP00000406490:p.Arg919Cys NA D3DPI1|Q4VAL4|Q5FBZ3|Q5FBZ6|Q5FBZ8 hg19 CCDS2302.1 0.02 8.792275 GGTxGCC COVERED 1 4.578754578754579E-4 0 0.0 0 0.0 1 0.0017482517482517483 0 0.0 C 26.0 4.693837 0.88735 . . ENSG00000064933 ENST00000441310;ENST00000418224;ENST00000409823;ENST00000447232;ENST00000432292;ENST00000409593 D;D;D;D;D;D 0.97831 -2.93;-2.73;-3.12;-3.33;-2.73;-4.56 5.76 5.76 0.90799 . 0.101764 0.64402 D 0.000001 D 0.98544 0.9514 M 0.66939 2.045 0.58432 D 0.999999 D;D;D;D;D 0.89917 0.999;1.0;1.0;1.0;1.0 P;D;D;D;D 0.77004 0.791;0.989;0.98;0.988;0.98 D 0.99410 1.0930 10 0.87932 D 0 -6.5663 20.3242 0.98691 0.0:1.0:0.0:0.0 . 235;542;880;757;919 Q5FBZ4;Q5FBZ6;Q5FBZ3;Q5FBZ8;P54277 .;.;.;.;PMS1_HUMAN C 919;743;880;757;743;542 ENSP00000406490:R919C;ENSP00000404492:R743C;ENSP00000387125:R880C;ENSP00000401064:R757C;ENSP00000398378:R743C;ENSP00000387169:R542C ENSP00000387169:R542C R + 1 0 PMS1 190450363 1.000000 0.71417 1.000000 0.80357 0.987000 0.75469 5.836000 0.69375 2.882000 0.98803 0.655000 0.94253 CGC NOVEL PMS1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255918.2 3 6.620693 KEEP 0 0 0 22 731 CC 0.999879 0.999879 0 + 12 60 431 0 0 28.808899 200 60 6610 262 ENST00000441310.2 0.056604 1 C2orf88 84281 __UNKNOWN__ __UNKNOWN__ 2 190795286 190795286 __UNKNOWN__ Intron SNP C C A rs112216225 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:190795286C>A ENST00000478197.1 + 1 219 Q9BSF0 SMAKA_HUMAN chromosome 2 open reading frame 88 NA NA plasma membrane (GO:0005886) kidney(1)|large_intestine(1)|lung(1) 3 cctgtagtcccagctactccg 0.557 NA C||| 276 0.0551118 0.115 0.0144 5008 , , NA 16159 0.0218 NA 0.0288 False NA ,,, NA NA NA 2504 0.0644 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC005083 CCDS42792.1 2q32.2 2014-02-12 2009-04-08 ENSG00000187699 ENSG00000187699 84281 28191 protein-coding gene gene with protein product small membrane AKAP 615117 NA 23996002 Standard NM_032321 NM_032321 NA Approved MGC13057, smAKAP uc002urt.3 Q9BSF0 OTTHUMG00000154361 ENST00000478197.1:c.219+50733C>A chr2.hg19:g.190795286C>A NA D3DPI3|P0C876|Q53TC7 hg19 0.02 -0.403569 TCCxAGC COVERED NOVEL C2orf88-002 KNOWN basic processed_transcript NA protein_coding OTTHUMT00000334952.1 2 2.708703 KEEP 1 0 0 9 310 CC 0.99257 0.927549 0 + 3 60 114 0 0 8.015907 43 60 1591 56 ENST00000478197.1 0.065217 0.934492 MFSD6 54842 __UNKNOWN__ __UNKNOWN__ 2 191301368 191301368 __UNKNOWN__ Missense_Mutation SNP A A G rs9646748 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:191301368A>G ENST00000392328.1 + 3 937 c.613A>G c.(613-615)Agg>Ggg p.R205G MFSD6_ENST00000281416.7_Missense_Mutation_p.R205G NM_017694.3 NP_060164.3 Q6ZSS7 MFSD6_HUMAN major facilitator superfamily domain containing 6 205 NA R -> G (in dbSNP:rs9646748). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:20123006, ECO:0000269|Ref.4}. transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|membrane (GO:0016020) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1) 23 TTTGGAAACAAGGCTCAATGT 0.433 NA G||| 2466 0.492412 0.4266 0.6427 5008 , , NA 22706 0.6181 NA 0.4483 False NA ,,, NA NA NA 2504 0.3906 NA NA NA NA 0 G GLY/ARG 1940,2466 617.9+/-393.1 445,1050,708 76 81 79 613 5.2 0 2 dbSNP_119 79 3755,4845 612.9+/-396.0 829,2097,1374 yes missense MFSD6 NM_017694.3 125 1274,3147,2082 GG,GA,AA 43.6628,44.0309,43.7875 benign 205/792 191301368 5695,7311 2203 4300 6503 SO:0001583 missense CCDS2306.1 2q32.2 2008-10-29 ENSG00000151690 ENSG00000151690 54842 24711 protein-coding gene gene with protein product 613476 NA Standard NM_017694 NA Approved FLJ20160 uc002urz.2 Q6ZSS7 OTTHUMG00000132671 ENST00000392328.1:c.613A>G chr2.hg19:g.191301368A>G ENSP00000376141:p.Arg205Gly NA D3KSZ4|Q86TH2|Q9NXM3 hg19 CCDS2306.1 0.02 31.615431 ACAxGGC COVERED 1108 0.5073260073260073 199 0.40447154471544716 217 0.5994475138121547 352 0.6153846153846154 340 0.44854881266490765 G 0.303 -0.972835 0.02215 0.440309 0.436628 ENSG00000151690 ENST00000392328;ENST00000281416 T;T 0.29917 1.55;1.55 5.25 5.25 0.73442 Major facilitator superfamily domain, general substrate transporter (1); 0.859177 0.10675 N 0.647079 T 0.00012 0.0000 N 0.01352 -0.895 0.36623 P 0.12414199999999997 B 0.02656 0.0 B 0.01281 0.0 T 0.41052 -0.9530 9 0.13853 T 0.58 0.2618 13.3583 0.60642 0.0754:0.0:0.9246:0.0 rs9646748;rs59869310;rs9646748 205 Q6ZSS7 MFSD6_HUMAN G 205 ENSP00000376141:R205G;ENSP00000281416:R205G ENSP00000281416:R205G R + 1 2 MFSD6 191009613 0.002000 0.14202 0.002000 0.10522 0.010000 0.07245 1.232000 0.32636 1.468000 0.48064 -0.176000 0.13171 AGG NOVEL MFSD6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255931.1 8 46.936915 KEEP 0 0 0 156 4951 AA 1 1 0 + 35 60 1249 0 0 80.800536 696 60 25572 1041 ENST00000392328.1 0.04788 1 MFSD6 54842 __UNKNOWN__ __UNKNOWN__ 2 191354491 191354491 __UNKNOWN__ Intron SNP T T C rs3811609 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:191354491T>C ENST00000392328.1 + 6 2116 MFSD6_ENST00000535751.1_Intron|MFSD6_ENST00000281416.7_Intron NM_017694.3 NP_060164.3 Q6ZSS7 MFSD6_HUMAN major facilitator superfamily domain containing 6 NA NA transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|membrane (GO:0016020) p.?(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1) 23 TTTGTTTTTATAGGGGCTGCT 0.463 NA T||| 1720 0.34345 0.289 0.5331 5008 , , NA 19039 0.4881 NA 0.2704 False NA ,,, NA NA NA 2504 0.2086 NA NA NA NA 1 Unknown(1) stomach(1) T 1181,3225 412.8+/-336.2 165,851,1187 74 71 72 1.3 0.5 2 dbSNP_107 72 2201,6399 375.7+/-337.9 272,1657,2371 no intron MFSD6 NM_017694.3 437,2508,3558 CC,CT,TT 25.593,26.8044,26.0034 191354491 3382,9624 2203 4300 6503 SO:0001627 intron_variant CCDS2306.1 2q32.2 2008-10-29 ENSG00000151690 ENSG00000151690 54842 24711 protein-coding gene gene with protein product 613476 NA Standard NM_017694 NA Approved FLJ20160 uc002urz.2 Q6ZSS7 OTTHUMG00000132671 ENST00000392328.1:c.1793-3T>C chr2.hg19:g.191354491T>C NA D3KSZ4|Q86TH2|Q9NXM3 hg19 CCDS2306.1 0.02 10.925133 TTAxAGG COVERED NOVEL MFSD6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255931.1 0 17.142246 KEEP 0 0 0 57 1728 TT 1 1 0 + 9 60 337 0 0 20.47498 289 60 10497 437 ENST00000392328.1 0.030201 1 TMEM194B 100131211 __UNKNOWN__ __UNKNOWN__ 2 191371217 191371217 __UNKNOWN__ 3'UTR SNP T T C rs6711006 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:191371217T>C ENST00000409150.3 - 0 4018 NM_001142645.1 NP_001136117.1 A6NFY4 T194B_HUMAN transmembrane protein 194B NA NA integral component of membrane (GO:0016021) NA TAATCCATCATCTATTCCAAA 0.289 NA T||| 1715 0.342452 0.289 0.5303 5008 , , NA 18643 0.4901 NA 0.2654 False NA ,,, NA NA NA 2504 0.2086 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS46476.1 2q32.2 2008-06-10 ENSG00000189362 ENSG00000189362 100131211 33700 protein-coding gene gene with protein product NA Standard XM_001723498 NM_001142645 NA Approved uc010zgf.2 A6NFY4 OTTHUMG00000154454 ENST00000409150.3:c.*2698A>G chr2.hg19:g.191371217T>C NA B4DYG6 hg19 CCDS46476.1 0.02 6.313248 TCAxCTA COVERED NOVEL TMEM194B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000335299.1 2 6.619046 KEEP 0 0 0 22 696 TT 0.999879 0.999879 0 - 9 60 329 0 0 22.30697 145 60 5256 191 ENST00000409150.3 0.058442 1 TMEM194B 100131211 __UNKNOWN__ __UNKNOWN__ 2 191379268 191379268 __UNKNOWN__ Silent SNP G G A rs4586658 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:191379268G>A ENST00000409150.3 - 7 930 c.864C>T c.(862-864)gcC>gcT p.A288A NM_001142645.1 NP_001136117.1 A6NFY4 T194B_HUMAN transmembrane protein 194B 288 NA integral component of membrane (GO:0016021) NA ACTGAGGCACGGCCACACCAG 0.522 NA G||| 2667 0.532548 0.3321 0.696 5008 , , NA 16189 0.5833 NA 0.5765 False NA ,,, NA NA NA 2504 0.59 NA NA NA NA 0 G 473,911 86,301,305 73 73 73 864 -0.5 0 2 dbSNP_111 73 1822,1360 520,782,289 no coding-synonymous TMEM194B NM_001142645.1 606,1083,594 AA,AG,GG 42.7404,34.1763,49.7372 288/418 191379268 2295,2271 692 1591 2283 SO:0001819 synonymous_variant CCDS46476.1 2q32.2 2008-06-10 ENSG00000189362 ENSG00000189362 100131211 33700 protein-coding gene gene with protein product NA Standard XM_001723498 NM_001142645 NA Approved uc010zgf.2 A6NFY4 OTTHUMG00000154454 ENST00000409150.3:c.864C>T chr2.hg19:g.191379268G>A NA B4DYG6 hg19 CCDS46476.1 0.02 1.655104 CACxGCC COVERED NOVEL TMEM194B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000335299.1 0 4.093879 KEEP 0 2 43 29 963 GG 0.999997 0.999916 0 - 6 60 204 0 0 13.549797 89 60 2906 155 ENST00000409150.3 0.063158 0.999919 TMEM194B 100131211 __UNKNOWN__ __UNKNOWN__ 2 191390126 191390126 __UNKNOWN__ Intron SNP G G A rs10931458 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:191390126G>A ENST00000492292.1 - 2 317 TMEM194B_ENST00000409150.3_Intron A6NFY4 T194B_HUMAN transmembrane protein 194B NA NA integral component of membrane (GO:0016021) NA AAAAGGGAATGCATTTTCTAA 0.348 NA A||| 3435 0.685903 0.4992 0.8026 5008 , , NA 20409 0.7232 NA 0.7724 False NA ,,, NA NA NA 2504 0.728 NA NA NA NA 0 A 743,641 210,323,159 91 72 78 1.5 0 2 dbSNP_120 78 2426,756 929,568,94 no intron TMEM194B NM_001142645.1 1139,891,253 AA,AG,GG 23.7586,46.315,30.5957 191390126 3169,1397 692 1591 2283 SO:0001627 intron_variant CCDS46476.1 2q32.2 2008-06-10 ENSG00000189362 ENSG00000189362 100131211 33700 protein-coding gene gene with protein product NA Standard XM_001723498 NM_001142645 NA Approved uc010zgf.2 A6NFY4 OTTHUMG00000154454 ENST00000492292.1:c.306-6217C>T chr2.hg19:g.191390126G>A NA B4DYG6 hg19 0.02 6.484758 AATxCAT COVERED NOVEL TMEM194B-006 PUTATIVE basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000335304.1 1 10.835705 KEEP 0 0 0 36 1313 GG 0.999999 0.999999 0 - 17 60 574 0 0 41.082577 163 60 5985 258 ENST00000492292.1 0.094444 1 TMEM194B 100131211 __UNKNOWN__ __UNKNOWN__ 2 191399433 191399433 __UNKNOWN__ 5'UTR SNP T T C rs12693579 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:191399433T>C ENST00000409150.3 - 0 15 NM_001142645.1 NP_001136117.1 A6NFY4 T194B_HUMAN transmembrane protein 194B NA NA integral component of membrane (GO:0016021) NA CCGGCTCCGCTGCGAGGAGCG 0.751 NA C||| 3423 0.683506 0.4924 0.7983 5008 , , NA 11403 0.7222 NA 0.7724 False NA ,,, NA NA NA 2504 0.729 NA NA NA NA 0 1 2 2 NA NA 2 NA 191399433 306 928 1234 SO:0001623 5_prime_UTR_variant CCDS46476.1 2q32.2 2008-06-10 ENSG00000189362 ENSG00000189362 100131211 33700 protein-coding gene gene with protein product NA Standard XM_001723498 NM_001142645 NA Approved uc010zgf.2 A6NFY4 OTTHUMG00000154454 ENST00000409150.3:c.-52A>G chr2.hg19:g.191399433T>C NA B4DYG6 hg19 CCDS46476.1 0.02 2.303617 CGCxGCG COVERED NOVEL TMEM194B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000335299.1 0 16.983262 KEEP 0 1 33 68 2116 TT 1 0.998993 0 - 6 60 202 0 0 13.884489 72 60 2580 194 ENST00000409150.3 0.076923 0.998993 NAB1 4664 __UNKNOWN__ __UNKNOWN__ 2 191535253 191535253 __UNKNOWN__ Intron SNP A A G rs74601328 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:191535253A>G ENST00000484774.1 + 1 139 NAB1_ENST00000409641.1_Intron|NAB1_ENST00000357215.5_Intron|NAB1_ENST00000545490.1_Intron|NAB1_ENST00000337386.5_Intron|NAB1_ENST00000409581.1_Intron Q13506 NAB1_HUMAN NGFI-A binding protein 1 (EGR1 binding protein 1) NA NA endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of epidermis development (GO:0045682)|regulation of transcription, DNA-templated (GO:0006355)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1) 7 OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109) AACATCATCTATTGATAGAAT 0.299 NA A||| 43 0.00858626 0.0 0.0144 5008 , , NA 21116 0.0298 NA 0.0 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS2307.1 2q32.3-q33 2008-05-23 ENSG00000138386 ENSG00000138386 4664 7626 protein-coding gene gene with protein product EGR1 binding protein 1 600800 NA 7624335, 8668170, 9418898 Standard NM_005966 XM_005246579 NA Approved uc002usb.3 Q13506 OTTHUMG00000132689 ENST00000484774.1:c.139+10532A>G chr2.hg19:g.191535253A>G NA O75383|O75384|Q6GTU1|Q9UEV1 hg19 0.02 4.581829 TCTxTTG COVERED NOVEL NAB1-007 PUTATIVE basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000335617.1 1 7.220678 KEEP 0 0 0 24 729 AA 0.999909 0.999909 0 + 7 60 258 0 0 17.167173 129 60 4678 183 ENST00000484774.1 0.051471 1 GLS 2744 __UNKNOWN__ __UNKNOWN__ 2 191760382 191760382 __UNKNOWN__ Missense_Mutation SNP T T C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:191760382T>C ENST00000320717.3 + 3 794 c.536T>C c.(535-537)aTg>aCg p.M179T GLS_ENST00000338435.4_Missense_Mutation_p.M179T NM_014905.4 NP_055720.3 O94925 GLSK_HUMAN glutaminase 179 NA cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate secretion (GO:0014047)|glutamine catabolic process (GO:0006543)|neurotransmitter secretion (GO:0007269)|protein homotetramerization (GO:0051289)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|small molecule metabolic process (GO:0044281)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268) mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739) glutaminase activity (GO:0004359) breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 16 OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181) L-Glutamine(DB00130) AAAGAGTGTATGGATATGTTA 0.323 NA NA NA NA NA NA NA NA NA NA NA 0 77 82 80 NA NA 2 NA 191760382 2203 4300 6503 SO:0001583 missense AB020645 CCDS2308.1, CCDS58744.1 2q32-q34 2013-01-10 ENSG00000115419 ENSG00000115419 2744 3.5.1.2 Ankyrin repeat domain containing 4331 protein-coding gene gene with protein product 138280 NA 10048485 Standard NM_014905 NA Approved KIAA0838, GLS1 uc002usf.3 O94925 OTTHUMG00000132701 ENST00000320717.3:c.536T>C chr2.hg19:g.191760382T>C ENSP00000317379:p.Met179Thr NA Q9UL05|Q9UL06|Q9UL07|Q9UN40 hg19 CCDS2308.1 0.02 1.760097 GTAxGGA COVERED . . . . . . . . . . T 16.65 3.182801 0.57800 . . ENSG00000115419 ENST00000320717;ENST00000338435 T;T 0.48836 0.92;0.8 5.5 5.5 0.81552 . 0.000000 0.85682 D 0.000000 T 0.49609 0.1567 L 0.58101 1.795 0.80722 D 1 P;P 0.41546 0.468;0.754 B;B 0.41723 0.119;0.365 T 0.55211 -0.8176 10 0.66056 D 0.02 -16.1228 15.5992 0.76611 0.0:0.0:0.0:1.0 . 179;179 O94925;O94925-3 GLSK_HUMAN;. T 179 ENSP00000317379:M179T;ENSP00000340689:M179T ENSP00000317379:M179T M + 2 0 GLS 191468627 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 7.671000 0.83941 2.097000 0.63578 0.482000 0.46254 ATG NOVEL GLS-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255999.2 0 9.627069 KEEP 0 0 0 32 976 TT 0.999997 0.999485 0 + 6 60 202 0 0 13.712861 77 60 2827 144 ENST00000320717.3 0.072289 0.999487 STAT1 6772 __UNKNOWN__ __UNKNOWN__ 2 191857351 191857351 __UNKNOWN__ Intron SNP G G A rs73979322 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:191857351G>A ENST00000392323.2 - 12 1362 STAT1_ENST00000361099.3_Intron|STAT1_ENST00000392322.3_Intron|STAT1_ENST00000409465.1_Intron|STAT1_ENST00000540176.1_Intron P42224 STAT1_HUMAN signal transducer and activator of transcription 1, 91kDa NA NA apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032) axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164) autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141) GTGAGAAAAGGATGGAGGCAA 0.428 NA G||| 321 0.0640974 0.0688 0.1715 5008 , , NA 17633 0.0615 NA 0.0149 False NA ,,, NA NA NA 2504 0.0348 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS2309.1, CCDS42793.1 2q32.2-q32.3 2014-09-17 2002-08-29 ENSG00000115415 ENSG00000115415 6772 SH2 domain containing 11362 protein-coding gene gene with protein product transcription factor ISGF-3 components p91/p84 600555 signal transducer and activator of transcription 1, 91kD NA 7885841 Standard NM_007315 NM_139266 NA Approved STAT91, ISGF-3 uc002usj.2 P42224 OTTHUMG00000132699 ENST00000392323.2:c.951-1305C>T chr2.hg19:g.191857351G>A NA A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5 hg19 0.02 5.789126 AAGxATG COVERED NOVEL STAT1-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000257868.2 1 12.428339 KEEP 0 1 7 44 1507 GG 1 1 0 - 9 60 322 0 0 20.744532 182 60 6580 277 ENST00000392323.2 0.04712 1 STAT1 6772 __UNKNOWN__ __UNKNOWN__ 2 191862901 191862901 __UNKNOWN__ Intron SNP T T C rs2066805 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:191862901T>C ENST00000392323.2 - 9 1051 STAT1_ENST00000361099.3_Intron|STAT1_ENST00000392322.3_Intron|STAT1_ENST00000409465.1_Intron|STAT1_ENST00000540176.1_Intron P42224 STAT1_HUMAN signal transducer and activator of transcription 1, 91kDa NA NA apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032) axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164) autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141) ATTTACAGTGTATAACAAAAG 0.333 NA T||| 237 0.0473243 0.0098 0.1671 5008 , , NA 17254 0.0595 NA 0.0149 False NA ,,, NA NA NA 2504 0.0337 NA NA NA NA 0 T , 65,4341 58.7+/-95.3 3,59,2141 70 67 68 , -0.6 0 2 dbSNP_94 68 176,8420 80.1+/-142.7 2,172,4124 no intron,intron STAT1 NM_007315.3,NM_139266.2 , 5,231,6265 CC,CT,TT 2.0475,1.4753,1.8536 , , 191862901 241,12761 2203 4298 6501 SO:0001627 intron_variant CCDS2309.1, CCDS42793.1 2q32.2-q32.3 2014-09-17 2002-08-29 ENSG00000115415 ENSG00000115415 6772 SH2 domain containing 11362 protein-coding gene gene with protein product transcription factor ISGF-3 components p91/p84 600555 signal transducer and activator of transcription 1, 91kD NA 7885841 Standard NM_007315 NM_139266 NA Approved STAT91, ISGF-3 uc002usj.2 P42224 OTTHUMG00000132699 ENST00000392323.2:c.639+41A>G chr2.hg19:g.191862901T>C NA A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5 hg19 0.02 2.128177 GTGxATA COVERED NOVEL STAT1-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000257868.2 1 8.720301 KEEP 0 0 0 29 817 TT 0.999997 0.999945 0 - 8 60 268 0 0 18.743304 90 60 3200 142 ENST00000392323.2 0.081633 0.999948 SDPR 8436 __UNKNOWN__ __UNKNOWN__ 2 192700912 192700912 __UNKNOWN__ Missense_Mutation SNP C C T rs116342827 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:192700912C>T ENST00000304141.4 - 2 1344 c.1015G>A c.(1015-1017)Gaa>Aaa p.E339K NM_004657.5 NP_004648.1 serum deprivation response NA NA NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3) 23 OV - Ovarian serous cystadenocarcinoma(117;0.0647) AGGGACGCTTCGGAATGACCC 0.557 NA C||| 4 0.000798722 0.0 0.0 5008 , , NA 18675 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 104 105 104 NA NA 2 NA 192700912 2203 4300 6503 SO:0001583 missense AF085481 CCDS2313.1 2q32-q33 2011-04-20 2009-09-18 ENSG00000168497 ENSG00000168497 8436 10690 protein-coding gene gene with protein product phosphatidylserine binding protein 606728 serum deprivation response (phosphatidylserine-binding protein), serum deprivation response (phosphatidylserine binding protein) NA 10191091, 8241023 Standard NM_004657 NM_004657 NA Approved SDR, PS-p68, cavin-2, CAVIN2 uc002utb.3 O95810 OTTHUMG00000154309 ENST00000304141.4:c.1015G>A chr2.hg19:g.192700912C>T ENSP00000305675:p.Glu339Lys NA hg19 CCDS2313.1 0.02 23.392196 CTTxGGA COVERED 1 4.578754578754579E-4 0 0.0 0 0.0 1 0.0017482517482517483 0 0.0 C 15.01 2.706732 0.48412 . . ENSG00000168497 ENST00000304141 T 0.66460 -0.21 5.01 3.18 0.36537 . 0.556344 0.19634 N 0.109609 T 0.51753 0.1693 L 0.51422 1.61 0.09310 N 0.999998 P 0.47841 0.901 B 0.31337 0.128 T 0.50600 -0.8809 10 0.72032 D 0.01 -9.3543 9.0733 0.36506 0.0:0.6433:0.283:0.0737 . 339 O95810 SDPR_HUMAN K 339 ENSP00000305675:E339K ENSP00000305675:E339K E - 1 0 SDPR 192409157 0.216000 0.23585 0.015000 0.15790 0.003000 0.03518 1.462000 0.35266 0.686000 0.31488 0.563000 0.77884 GAA NOVEL SDPR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000334791.2 4 30.696725 KEEP 0 0 0 102 3431 CC 1 1 0 - 20 60 737 0 0 45.342672 569 60 19769 815 ENST00000304141.4 0.033956 1 HECW2 57520 __UNKNOWN__ __UNKNOWN__ 2 197122493 197122493 __UNKNOWN__ Intron SNP T T G rs6731238 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:197122493T>G ENST00000409111.1 - 16 3366 HECW2_ENST00000260983.3_Intron Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 NA NA protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787) cytoplasm (GO:0005737)|nucleus (GO:0005634) ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842) biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 CAATGTTCCATGATATCTGAT 0.373 NA T||| 1993 0.397963 0.1362 0.5548 5008 , , NA 21603 0.3313 NA 0.6123 False NA ,,, NA NA NA 2504 0.4888 NA NA NA NA 0 T 285,1099 42,201,449 62 50 54 -8 0 2 dbSNP_116 54 2003,1179 630,743,218 no intron HECW2 NM_020760.1 672,944,667 GG,GT,TT 37.0522,20.5925,49.8905 197122493 2288,2278 692 1591 2283 SO:0001627 intron_variant AL390186 CCDS33354.1 2q32.3 2004-12-13 ENSG00000138411 ENSG00000138411 57520 29853 protein-coding gene gene with protein product NA 10718198, 12890487 Standard NM_020760 NM_020760 NA Approved KIAA1301, NEDL2 uc002utm.1 Q9P2P5 OTTHUMG00000154435 ENST00000409111.1:c.2351+53A>C chr2.hg19:g.197122493T>G NA B8ZZB4|Q17RT5|Q68DF8|Q9NPS9 hg19 0.02 12.308968 CCAxGAT COVERED NOVEL HECW2-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000335314.2 1 2.843494 KEEP 0 1 39 23 691 TT 0.999909 0.999909 0 - 17 60 655 0 0 46.521356 237 60 8703 309 ENST00000409111.1 0.066929 1 PGAP1 80055 __UNKNOWN__ __UNKNOWN__ 2 197762010 197762010 __UNKNOWN__ Intron SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:197762010C>T ENST00000409188.1 - 7 919 PGAP1_ENST00000409475.1_Intron|PGAP1_ENST00000354764.4_Intron|PGAP1_ENST00000485830.1_Intron Q75T13 PGAP1_HUMAN post-GPI attachment to proteins 1 NA NA anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578) breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1) 40 TTTAGTGGAACATTTGAGTTT 0.234 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS2318.1 2q33.1 2014-03-03 ENSG00000197121 ENSG00000197121 80055 25712 protein-coding gene gene with protein product GPI inositol-deacylase 611655 NA 14734546, 17711852, 24482476 Standard NM_024989 XM_005246866 NA Approved FLJ12377, Bst1, SPG67 uc002utw.3 Q75T13 OTTHUMG00000132743 ENST00000409188.1:c.735-89G>A chr2.hg19:g.197762010C>T NA Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24 hg19 0.02 1.979397 GAAxATT COVERED NOVEL PGAP1-006 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000335105.1 0 7.8254 KEEP 0 0 0 26 920 CC 0.999957 0.984119 0 - 4 60 137 0 0 9.290071 54 60 2062 95 ENST00000409188.1 0.068966 0.984161 ANKRD44 91526 __UNKNOWN__ __UNKNOWN__ 2 198175453 198175453 __UNKNOWN__ 5'UTR SNP C C G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:198175453C>G ENST00000409153.1 - 0 58 ANKRD44_ENST00000409919.1_5'UTR|ANKRD44_ENST00000539527.1_5'UTR Q8N8A2 ANR44_HUMAN ankyrin repeat domain 44 NA NA NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 45 OV - Ovarian serous cystadenocarcinoma(117;0.246) TTTGACAGCCCTCCCCCTGCT 0.662 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AK097086 CCDS33355.1, CCDS33355.2, CCDS74619.1 2q33.1 2013-01-10 ENSG00000065413 ENSG00000065413 91526 Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits, Ankyrin repeat domain containing 25259 protein-coding gene gene with protein product protein phosphatase 6 ankyrin repeat subunit B NA Standard NM_153697 NM_153697 NA Approved PP6-ARS-B uc021vuj.1 Q8N8A2 OTTHUMG00000154411 ENST00000409153.1:c.-125G>C chr2.hg19:g.198175453C>G NA Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4 hg19 0.02 8.016001 GCCxTCC COVERED NOVEL ANKRD44-003 KNOWN basic protein_coding NA protein_coding OTTHUMT00000335114.3 1 33.706102 KEEP 0 0 0 112 3837 CC 1 1 0 - 14 60 452 0 0 29.586717 196 60 6702 416 ENST00000409153.1 0.066667 1 HSPD1 3329 __UNKNOWN__ __UNKNOWN__ 2 198363688 198363688 __UNKNOWN__ Intron SNP T T C rs534508101 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:198363688T>C ENST00000388968.3 - 2 266 HSPD1_ENST00000345042.2_Intron|HSPD1_ENST00000544407.1_Intron NM_002156.4 NP_002147.2 P10809 CH60_HUMAN heat shock 60kDa protein 1 (chaperonin) NA NA 'de novo' protein folding (GO:0006458)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|ATP catabolic process (GO:0006200)|B cell activation (GO:0042113)|B cell cytokine production (GO:0002368)|B cell proliferation (GO:0042100)|chaperone-mediated protein complex assembly (GO:0051131)|isotype switching to IgG isotypes (GO:0048291)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell mediated immune response to tumor cell (GO:0002842)|protein maturation (GO:0051604)|protein refolding (GO:0042026)|protein stabilization (GO:0050821)|response to unfolded protein (GO:0006986)|T cell activation (GO:0042110)|viral process (GO:0016032) cell surface (GO:0009986)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lipopolysaccharide receptor complex (GO:0046696)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|secretory granule (GO:0030141) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chaperone binding (GO:0051087)|DNA replication origin binding (GO:0003688)|double-stranded RNA binding (GO:0003725)|lipopolysaccharide binding (GO:0001530)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)|unfolded protein binding (GO:0051082) NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1) 17 Epithelial(96;0.225) CTGGCTGACCTCCGCCAGCCA 0.597 NA T||| 1996 0.398562 0.3782 0.4236 5008 , , NA 16366 0.4405 NA 0.3966 False NA ,,, NA NA NA 2504 0.3671 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M34664 CCDS33357.1 2q33.1 2011-09-02 2002-08-29 ENSG00000144381 ENSG00000144381 3329 Heat Shock Proteins / Chaperonins 5261 protein-coding gene gene with protein product 118190 heat shock 60kD protein 1 (chaperonin), spastic paraplegia 13 (autosomal dominant) SPG13 NA 1980192, 11898127 Standard NM_002156 NM_002156 NA Approved GROEL, HSP60 uc002uui.3 P10809 OTTHUMG00000154463 ENST00000388968.3:c.2-114A>G chr2.hg19:g.198363688T>C NA B2R5M6|B7Z712|Q38L19|Q9UCR6 hg19 CCDS33357.1 0.02 4.328978 ACCxCCG COVERED NOVEL HSPD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000335324.2 3 14.946936 KEEP 0 6 59 72 2070 TT 1 1 0 - 18 60 293 0 0 14.439377 150 60 4208 362 ENST00000388968.3 0.107143 1 HSPD1 3329 __UNKNOWN__ __UNKNOWN__ 2 198363691 198363691 __UNKNOWN__ Intron SNP G G C rs554949155 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:198363691G>C ENST00000388968.3 - 2 266 HSPD1_ENST00000345042.2_Intron|HSPD1_ENST00000544407.1_Intron NM_002156.4 NP_002147.2 P10809 CH60_HUMAN heat shock 60kDa protein 1 (chaperonin) NA NA 'de novo' protein folding (GO:0006458)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|ATP catabolic process (GO:0006200)|B cell activation (GO:0042113)|B cell cytokine production (GO:0002368)|B cell proliferation (GO:0042100)|chaperone-mediated protein complex assembly (GO:0051131)|isotype switching to IgG isotypes (GO:0048291)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell mediated immune response to tumor cell (GO:0002842)|protein maturation (GO:0051604)|protein refolding (GO:0042026)|protein stabilization (GO:0050821)|response to unfolded protein (GO:0006986)|T cell activation (GO:0042110)|viral process (GO:0016032) cell surface (GO:0009986)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lipopolysaccharide receptor complex (GO:0046696)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|secretory granule (GO:0030141) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chaperone binding (GO:0051087)|DNA replication origin binding (GO:0003688)|double-stranded RNA binding (GO:0003725)|lipopolysaccharide binding (GO:0001530)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)|unfolded protein binding (GO:0051082) NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1) 17 Epithelial(96;0.225) GCTGACCTCCGCCAGCCACTA 0.602 NA G||| 1996 0.398562 0.3782 0.4236 5008 , , NA 15497 0.4405 NA 0.3966 False NA ,,, NA NA NA 2504 0.3671 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M34664 CCDS33357.1 2q33.1 2011-09-02 2002-08-29 ENSG00000144381 ENSG00000144381 3329 Heat Shock Proteins / Chaperonins 5261 protein-coding gene gene with protein product 118190 heat shock 60kD protein 1 (chaperonin), spastic paraplegia 13 (autosomal dominant) SPG13 NA 1980192, 11898127 Standard NM_002156 NM_002156 NA Approved GROEL, HSP60 uc002uui.3 P10809 OTTHUMG00000154463 ENST00000388968.3:c.2-117C>G chr2.hg19:g.198363691G>C NA B2R5M6|B7Z712|Q38L19|Q9UCR6 hg19 CCDS33357.1 0.02 5.058796 TCCxCCA COVERED NOVEL HSPD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000335324.2 3 20.368935 KEEP 0 4 44 85 2559 GG 1 1 0 - 29 60 481 0 0 28.074277 155 60 4913 349 ENST00000388968.3 0.157609 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 200524744 200524744 __UNKNOWN__ IGR SNP G G A rs72920213 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:200524744G>A NA NA AC093590.1 (889 upstream) : FTCDNL1 (100522 downstream) NA NA NA TGAAGACGCAGGAGCGTCTGT 0.493 NA G||| 1199 0.239417 0.0976 0.3631 5008 , , NA 20551 0.4613 NA 0.1839 False NA ,,, NA NA NA 2504 0.1718 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.200524744G>A NA hg19 0.02 4.305197 GCAxGAG COVERED NOVEL 0 0 4.514676 KEEP 0 0 0 15 544 GG 0.99649 0.996489 0 8 60 280 0 0 19.004037 114 60 4304 159 0.065574 0.999999 FTCDNL1 348751 __UNKNOWN__ __UNKNOWN__ 2 200625580 200625580 __UNKNOWN__ Intron SNP A A G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:200625580A>G ENST00000420922.2 - 5 486 FTCDNL1_ENST00000416668.1_Intron E5RQL4 FONG_HUMAN formiminotransferase cyclodeaminase N-terminal like NA NA folic acid binding (GO:0005542)|transferase activity (GO:0016740) NA GGAAGGAGAGATTAGTATTTG 0.527 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC039445 2q33.1 2013-06-04 ENSG00000226124 ENSG00000226124 348751 48661 protein-coding gene gene with protein product formiminotransferase N-terminal sub-domain containing gene 614308 NA 21573128 Standard NR_034096 NA Approved FONG E5RQL4 OTTHUMG00000154481 ENST00000420922.2:c.343-22T>C chr2.hg19:g.200625580A>G NA hg19 0.02 9.688275 GAGxTTA COVERED NOVEL FTCDNL1-003 PUTATIVE basic|appris_principal|exp_conf protein_coding NA protein_coding OTTHUMT00000335788.2 1 8.42372 KEEP 0 0 0 28 841 AA 0.999997 0.999997 0 - 15 60 565 0 0 39.437508 220 60 7631 299 ENST00000420922.2 0.06383 1 FTCDNL1 348751 __UNKNOWN__ __UNKNOWN__ 2 200713751 200713751 __UNKNOWN__ Intron SNP A A C rs4672569 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:200713751A>C ENST00000420922.2 - 2 115 FTCDNL1_ENST00000420128.1_Intron|FTCDNL1_ENST00000416668.1_Intron E5RQL4 FONG_HUMAN formiminotransferase cyclodeaminase N-terminal like NA NA folic acid binding (GO:0005542)|transferase activity (GO:0016740) NA TTCATGTTTTAACTATAAAAA 0.318 NA A||| 441 0.0880591 0.0038 0.0994 5008 , , NA 16450 0.1567 NA 0.0378 False NA ,,, NA NA NA 2504 0.1748 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC039445 2q33.1 2013-06-04 ENSG00000226124 ENSG00000226124 348751 48661 protein-coding gene gene with protein product formiminotransferase N-terminal sub-domain containing gene 614308 NA 21573128 Standard NR_034096 NA Approved FONG E5RQL4 OTTHUMG00000154481 ENST00000420922.2:c.7-59T>G chr2.hg19:g.200713751A>C NA hg19 0.02 4.654033 TTTxACT COVERED NOVEL FTCDNL1-003 PUTATIVE basic|appris_principal|exp_conf protein_coding NA protein_coding OTTHUMT00000335788.2 0 6.316897 KEEP 0 0 0 21 607 AA 0.999869 0.999853 0 - 6 60 226 0 0 15.477366 99 60 3516 134 ENST00000420922.2 0.057143 0.999984 C2orf69 205327 __UNKNOWN__ __UNKNOWN__ 2 200790216 200790216 __UNKNOWN__ Silent SNP C C T rs12476690 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:200790216C>T ENST00000319974.5 + 2 948 c.765C>T c.(763-765)gaC>gaT p.D255D C2orf69_ENST00000491721.1_Intron NM_153689.5 NP_710156.3 Q8N8R5 CB069_HUMAN chromosome 2 open reading frame 69 255 NA extracellular region (GO:0005576) central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)|stomach(1)|urinary_tract(1) 11 CACTAAATGACGCATCTTTTA 0.378 NA C||| 388 0.077476 0.0023 0.0893 5008 , , NA 19427 0.1657 NA 0.0258 False NA ,,, NA NA NA 2504 0.1329 NA NA NA NA 0 C 34,3670 2,30,1820 85 87 86 765 1.7 0.9 2 dbSNP_120 86 289,7891 5,279,3806 no coding-synonymous C2orf69 NM_153689.5 7,309,5626 TT,TC,CC 3.533,0.9179,2.7179 255/386 200790216 323,11561 1852 4090 5942 SO:0001819 synonymous_variant CCDS46482.1 2q33.1 2008-08-08 ENSG00000178074 ENSG00000178074 205327 26799 protein-coding gene gene with protein product hypothetical protein FLJ38973 NA 12477932 Standard NM_153689 NM_153689 NA Approved FLJ38973 uc010zhb.2 Q8N8R5 OTTHUMG00000154480 ENST00000319974.5:c.765C>T chr2.hg19:g.200790216C>T NA Q8NE30 hg19 CCDS46482.1 0.02 1.839063 TGAxGCA COVERED NOVEL C2orf69-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000335446.1 3 4.213098 KEEP 0 0 0 14 462 CC 0.995343 0.993552 0 + 4 60 147 0 0 9.852446 70 60 2494 94 ENST00000319974.5 0.054054 0.9982 TYW5 129450 __UNKNOWN__ __UNKNOWN__ 2 200795985 200795985 __UNKNOWN__ 3'UTR SNP T T C rs17629121 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:200795985T>C ENST00000354611.4 - 0 3018 C2orf69_ENST00000491721.1_Intron NM_001039693.2 NP_001034782.1 A2RUC4 TYW5_HUMAN tRNA-yW synthesizing protein 5 NA NA wybutosine biosynthetic process (GO:0031591) iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(1) 8 ataagcttcatagataaatgt 0.318 NA T||| 404 0.0806709 0.0045 0.0836 5008 , , NA 15442 0.1667 NA 0.0348 False NA ,,, NA NA NA 2504 0.1401 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK095272 CCDS42795.1 2q33.1 2011-05-09 2011-05-09 2011-05-09 ENSG00000162971 ENSG00000162971 129450 26754 protein-coding gene gene with protein product chromosome 2 open reading frame 60 C2orf60 NA 20739293 Standard NM_001039693 NM_001039693 NA Approved FLJ37953 uc002uvi.4 A2RUC4 OTTHUMG00000132770 ENST00000354611.4:c.*1805A>G chr2.hg19:g.200795985T>C NA B2RNE3|Q8N1R2 hg19 CCDS42795.1 0.02 7.177858 TCAxAGA COVERED NOVEL TYW5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256144.3 2 13.54059 KEEP 0 0 0 45 1418 TT 1 1 0 - 12 60 455 0 0 31.735918 180 60 6539 283 ENST00000354611.4 0.0625 1 TYW5 129450 __UNKNOWN__ __UNKNOWN__ 2 200813126 200813126 __UNKNOWN__ Missense_Mutation SNP T T C rs10497844 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:200813126T>C ENST00000354611.4 - 2 413 c.148A>G c.(148-150)Agc>Ggc p.S50G C2orf69_ENST00000491721.1_Intron|TYW5_ENST00000452512.2_Intron NM_001039693.2 NP_001034782.1 A2RUC4 TYW5_HUMAN tRNA-yW synthesizing protein 5 50 NA S -> G (in dbSNP:rs10497844). wybutosine biosynthetic process (GO:0031591) iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(1) 8 CCAACTTGGCTTAGGTAATCC 0.388 NA T||| 375 0.0748802 0.0023 0.0893 5008 , , NA 15735 0.1508 NA 0.0258 False NA ,,, NA NA NA 2504 0.135 NA NA NA NA 0 T GLY/SER 34,3756 2,30,1863 144 131 135 148 4.9 1 2 dbSNP_119 135 289,7961 5,279,3841 yes missense TYW5 NM_001039693.2 56 7,309,5704 CC,CT,TT 3.503,0.8971,2.6827 probably-damaging 50/316 200813126 323,11717 1895 4125 6020 SO:0001583 missense AK095272 CCDS42795.1 2q33.1 2011-05-09 2011-05-09 2011-05-09 ENSG00000162971 ENSG00000162971 129450 26754 protein-coding gene gene with protein product chromosome 2 open reading frame 60 C2orf60 NA 20739293 Standard NM_001039693 NM_001039693 NA Approved FLJ37953 uc002uvi.4 A2RUC4 OTTHUMG00000132770 ENST00000354611.4:c.148A>G chr2.hg19:g.200813126T>C ENSP00000346627:p.Ser50Gly NA B2RNE3|Q8N1R2 hg19 CCDS42795.1 0.02 22.974921 GGCxTAG COVERED 138 0.06318681318681318 1 0.0020325203252032522 21 0.058011049723756904 98 0.17132867132867133 18 0.023746701846965697 T 11.53 1.666402 0.29604 0.008971 0.03503 ENSG00000162971 ENST00000354611 T 0.71461 -0.57 4.94 4.94 0.65067 . 0.266710 0.29273 U 0.012631 T 0.00384 0.0012 M 0.71581 2.175 0.29576 P 0.8495630000000001 B;B 0.28082 0.2;0.137 B;B 0.24269 0.034;0.052 T 0.25984 -1.0116 9 0.23891 T 0.37 . 14.7497 0.69516 0.0:0.0:0.0:1.0 rs10497844;rs17591120;rs10497844 50;50 A8KAJ9;A2RUC4 .;TYW5_HUMAN G 50 ENSP00000346627:S50G ENSP00000346627:S50G S - 1 0 TYW5 200521371 0.729000 0.28090 0.998000 0.56505 0.529000 0.34654 0.606000 0.24194 2.066000 0.61787 0.533000 0.62120 AGC NOVEL TYW5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256144.3 2 33.403467 KEEP 0 0 0 111 3591 TT 1 1 0 - 20 60 720 0 0 44.719174 516 60 19324 817 ENST00000354611.4 0.037313 1 TYW5 129450 __UNKNOWN__ __UNKNOWN__ 2 200820355 200820355 __UNKNOWN__ 5'UTR SNP C C A rs2292309 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:200820355C>A ENST00000354611.4 - 0 104 C2orf69_ENST00000491721.1_3'UTR|C2orf47_ENST00000295079.2_5'UTR|C2orf47_ENST00000392290.1_5'UTR NM_001039693.2 NP_001034782.1 A2RUC4 TYW5_HUMAN tRNA-yW synthesizing protein 5 NA NA wybutosine biosynthetic process (GO:0031591) iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(1) 8 CGAAGGGCCTCGGCCTGGGCT 0.682 NA C||| 433 0.0864617 0.0424 0.1037 5008 , , NA 12395 0.1379 NA 0.0328 False NA ,,, NA NA NA 2504 0.136 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AK095272 CCDS42795.1 2q33.1 2011-05-09 2011-05-09 2011-05-09 ENSG00000162971 ENSG00000162971 129450 26754 protein-coding gene gene with protein product chromosome 2 open reading frame 60 C2orf60 NA 20739293 Standard NM_001039693 NM_001039693 NA Approved FLJ37953 uc002uvi.4 A2RUC4 OTTHUMG00000132770 ENST00000354611.4:c.-162G>T chr2.hg19:g.200820355C>A NA B2RNE3|Q8N1R2 hg19 CCDS42795.1 0.02 6.621394 CCTxGGC COVERED NOVEL TYW5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256144.3 3 44.23655 KEEP 0 0 0 147 4908 CC 1 1 0 - 8 60 282 0 0 18.389987 145 60 4965 396 ENST00000354611.4 0.052288 1 SPATS2L 26010 __UNKNOWN__ __UNKNOWN__ 2 201171014 201171014 __UNKNOWN__ 5'UTR SNP G G C rs201096244|rs3739121 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:201171014G>C ENST00000409988.3 + 0 141 SPATS2L_ENST00000409718.1_5'UTR|SPATS2L_ENST00000409385.1_5'UTR|SPATS2L_ENST00000358677.5_Intron NM_001100422.1 NP_001093892.1 Q9NUQ6 SPS2L_HUMAN spermatogenesis associated, serine-rich 2-like NA NA cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234) poly(A) RNA binding (GO:0044822) endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1) 10 TCATTTTCTCGGGTAGGAGAA 0.438 NA G||| 2328 0.464856 0.1679 0.5879 5008 , , NA 18304 0.7272 NA 0.4195 False NA ,,, NA NA NA 2504 0.5552 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF193059 CCDS46483.1, CCDS46484.1, CCDS74621.1, CCDS74622.1 2q33.1 2009-06-12 ENSG00000196141 ENSG00000196141 26010 24574 protein-coding gene gene with protein product DNA polymerase transactivated protein 6 613817 NA 11230166 Standard NM_015535 NM_001100422 NA Approved DNAPTP6 uc002uvr.4 Q9NUQ6 OTTHUMG00000154589 ENST00000409988.3:c.-383G>C chr2.hg19:g.201171014G>C NA A8K381|B4DRE6|B4DT67|B7WNZ7|Q53T22|Q8WV53|Q8WYG1|Q9NTW4 hg19 CCDS46483.1 0.02 15.578509 CTCxGGT COVERED NOVEL SPATS2L-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000336227.2 0 33.979454 KEEP 0 2 69 137 4706 GG 1 1 0 + 18 60 642 0 0 41.573079 351 60 12147 666 ENST00000409988.3 0.04878 1 SPATS2L 26010 __UNKNOWN__ __UNKNOWN__ 2 201171191 201171191 __UNKNOWN__ 5'UTR SNP C C G rs10931898 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:201171191C>G ENST00000409988.3 + 0 318 SPATS2L_ENST00000409718.1_Intron|SPATS2L_ENST00000451764.2_5'UTR|SPATS2L_ENST00000409385.1_Intron|SPATS2L_ENST00000358677.5_Intron NM_001100422.1 NP_001093892.1 Q9NUQ6 SPS2L_HUMAN spermatogenesis associated, serine-rich 2-like NA NA cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234) poly(A) RNA binding (GO:0044822) endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1) 10 GGGAAAGGAGCTAGGGAGGGC 0.577 NA C||| 2192 0.4377 0.1513 0.5634 5008 , , NA 13119 0.7252 NA 0.3757 False NA ,,, NA NA NA 2504 0.5031 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF193059 CCDS46483.1, CCDS46484.1, CCDS74621.1, CCDS74622.1 2q33.1 2009-06-12 ENSG00000196141 ENSG00000196141 26010 24574 protein-coding gene gene with protein product DNA polymerase transactivated protein 6 613817 NA 11230166 Standard NM_015535 NM_001100422 NA Approved DNAPTP6 uc002uvr.4 Q9NUQ6 OTTHUMG00000154589 ENST00000409988.3:c.-206C>G chr2.hg19:g.201171191C>G NA A8K381|B4DRE6|B4DT67|B7WNZ7|Q53T22|Q8WV53|Q8WYG1|Q9NTW4 hg19 CCDS46483.1 0.02 11.920442 GAGxTAG COVERED NOVEL SPATS2L-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000336227.2 1 36.877188 KEEP 0 2 58 143 5124 CC 1 1 0 + 13 60 500 0 0 33.224131 274 60 10392 540 ENST00000409988.3 0.045296 1 SPATS2L 26010 __UNKNOWN__ __UNKNOWN__ 2 201171207 201171207 __UNKNOWN__ 5'UTR SNP G G C rs12614621 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:201171207G>C ENST00000409988.3 + 0 334 SPATS2L_ENST00000409718.1_Intron|SPATS2L_ENST00000451764.2_5'UTR|SPATS2L_ENST00000409385.1_Intron|SPATS2L_ENST00000358677.5_Intron NM_001100422.1 NP_001093892.1 Q9NUQ6 SPS2L_HUMAN spermatogenesis associated, serine-rich 2-like NA NA cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234) poly(A) RNA binding (GO:0044822) endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1) 10 AGGGCGTGTGGAGGGACGAGA 0.602 NA G||| 2328 0.464856 0.1679 0.5879 5008 , , NA 13180 0.7272 NA 0.4195 False NA ,,, NA NA NA 2504 0.5552 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF193059 CCDS46483.1, CCDS46484.1, CCDS74621.1, CCDS74622.1 2q33.1 2009-06-12 ENSG00000196141 ENSG00000196141 26010 24574 protein-coding gene gene with protein product DNA polymerase transactivated protein 6 613817 NA 11230166 Standard NM_015535 NM_001100422 NA Approved DNAPTP6 uc002uvr.4 Q9NUQ6 OTTHUMG00000154589 ENST00000409988.3:c.-190G>C chr2.hg19:g.201171207G>C NA A8K381|B4DRE6|B4DT67|B7WNZ7|Q53T22|Q8WV53|Q8WYG1|Q9NTW4 hg19 CCDS46483.1 0.02 11.945782 GTGxAGG COVERED NOVEL SPATS2L-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000336227.2 2 37.847246 KEEP 0 1 29 136 4757 GG 1 1 0 + 13 60 504 0 0 33.681449 271 60 10322 527 ENST00000409988.3 0.045775 1 SGOL2 151246 __UNKNOWN__ __UNKNOWN__ 2 201434729 201434729 __UNKNOWN__ Intron SNP G G A rs150389701 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:201434729G>A ENST00000357799.4 + 6 801 SGOL2_ENST00000409203.3_3'UTR NM_001160033.1|NM_001160046.1|NM_152524.5 NP_001153505.1|NP_001153518.1|NP_689737.4 Q562F6 SGOL2_HUMAN shugoshin-like 2 (S. pombe) NA NA meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278) chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634) NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 46 TTATGTTACCGATTTGCTAAC 0.318 NA G||| 10 0.00199681 0.0 0.0014 5008 , , NA 17700 0.0089 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY094614 CCDS42796.1 2q33.2 2008-02-05 ENSG00000163535 ENSG00000163535 151246 30812 protein-coding gene gene with protein product 612425 NA Standard NM_152524 NM_001160046 NA Approved TRIPIN, FLJ25211 uc002uvw.2 Q562F6 OTTHUMG00000154535 ENST00000357799.4:c.703+114G>A chr2.hg19:g.201434729G>A NA Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3 hg19 CCDS42796.1 0.02 4.28773 ACCxATT COVERED NOVEL SGOL2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000335834.1 0 7.823327 KEEP 0 0 0 26 829 GG 0.999957 0.999956 0 + 6 60 227 0 0 15.132303 118 60 4124 177 ENST00000357799.4 0.048387 0.999999 AOX1 316 __UNKNOWN__ __UNKNOWN__ 2 201460104 201460104 __UNKNOWN__ Intron SNP A A G rs7597590 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:201460104A>G ENST00000374700.2 + 3 441 NM_001159.3 NP_001150.3 Q06278 AOXA_HUMAN aldehyde oxidase 1 NA NA inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) 2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854) breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 81 Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) ACCGTGCAGCAAAGTCCAGAT 0.398 NA A||| 1388 0.277157 0.2587 0.2709 5008 , , NA 19157 0.4405 NA 0.1759 False NA ,,, NA NA NA 2504 0.2423 NA NA NA NA 0 A 1137,3269 403.7+/-332.8 156,825,1222 71 60 64 -3.7 0 2 dbSNP_116 64 1542,7058 285.8+/-297.4 121,1300,2879 no intron AOX1 NM_001159.3 277,2125,4101 GG,GA,AA 17.9302,25.8057,20.5982 201460104 2679,10327 2203 4300 6503 SO:0001627 intron_variant AF017060 CCDS33360.1 2q33 2008-05-20 ENSG00000138356 ENSG00000138356 316 553 protein-coding gene gene with protein product 602841 NA 7570184 Standard NM_001159 NM_001159 NA Approved AO, AOH1 uc002uvx.3 Q06278 OTTHUMG00000154536 ENST00000374700.2:c.200+13A>G chr2.hg19:g.201460104A>G NA O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6 hg19 CCDS33360.1 0.02 4.153318 AGCxAAG COVERED NOVEL AOX1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000335844.1 1 12.034409 KEEP 0 0 0 40 1225 AA 1 1 0 + 5 60 177 0 0 10.940534 122 60 4382 209 ENST00000374700.2 0.03937 1 AOX1 316 __UNKNOWN__ __UNKNOWN__ 2 201468732 201468732 __UNKNOWN__ Intron SNP C C G rs2293525 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:201468732C>G ENST00000374700.2 + 8 829 NM_001159.3 NP_001150.3 Q06278 AOXA_HUMAN aldehyde oxidase 1 NA NA inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) 2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854) breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 81 Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) GATATGTTCTCTTTTTAGACA 0.383 NA C||| 1383 0.276158 0.2534 0.2709 5008 , , NA 21656 0.4435 NA 0.174 False NA ,,, NA NA NA 2504 0.2434 NA NA NA NA 0 C 1113,3293 394.7+/-329.4 148,817,1238 60 60 60 1.8 0 2 dbSNP_100 60 1538,7062 288.1+/-298.6 120,1298,2882 no intron AOX1 NM_001159.3 268,2115,4120 GG,GC,CC 17.8837,25.261,20.3829 201468732 2651,10355 2203 4300 6503 SO:0001627 intron_variant AF017060 CCDS33360.1 2q33 2008-05-20 ENSG00000138356 ENSG00000138356 316 553 protein-coding gene gene with protein product 602841 NA 7570184 Standard NM_001159 NM_001159 NA Approved AO, AOH1 uc002uvx.3 Q06278 OTTHUMG00000154536 ENST00000374700.2:c.589-8C>G chr2.hg19:g.201468732C>G NA O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6 hg19 CCDS33360.1 0.02 13.886921 TCTxTTT COVERED NOVEL AOX1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000335844.1 2 20.457018 KEEP 0 0 0 68 2432 CC 1 1 0 + 15 60 570 0 0 37.56478 320 60 12122 499 ENST00000374700.2 0.044776 1 BZW1 9689 __UNKNOWN__ __UNKNOWN__ 2 201687982 201687982 __UNKNOWN__ 3'UTR SNP T T C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:201687982T>C ENST00000409600.1 + 0 2796 NM_001207067.1|NM_014670.3 NP_001193996.1|NP_055485.2 Q7L1Q6 BZW1_HUMAN basic leucine zipper and W2 domains 1 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|membrane (GO:0016020) poly(A) RNA binding (GO:0044822) breast(1)|kidney(2)|large_intestine(1)|lung(2) 6 GTTCTCTTAATATACTCAGTA 0.358 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D13630 CCDS56154.1, CCDS56155.1, CCDS56156.1 2q33 2010-04-09 ENSG00000082153 ENSG00000082153 9689 18380 protein-coding gene gene with protein product NA 10964520, 11524015 Standard NM_014670 NM_001207067 NA Approved BZAP45, KIAA0005 uc021vus.1 Q7L1Q6 OTTHUMG00000154560 ENST00000409600.1:c.*1081T>C chr2.hg19:g.201687982T>C NA B4DLZ8|B4DWF7|Q14281|Q15394|Q9BUY0 hg19 CCDS56156.1 0.02 34.156914 TAAxATA COVERED NOVEL BZW1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000335975.1 1 13.346747 KEEP 80 6 202 115 3515 TT 1 1 0 + 46 47 1642 0 0 109.673479 757 60 27151 1180 ENST00000409600.1 0.057285 1 CASP10 843 __UNKNOWN__ __UNKNOWN__ 2 202070718 202070718 __UNKNOWN__ Intron SNP C C T rs12471740 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:202070718C>T ENST00000286186.6 + 7 1248 CASP10_ENST00000492363.1_Intron|CASP10_ENST00000313728.7_Intron|CASP10_ENST00000360132.3_Intron|CASP10_ENST00000448480.1_Intron|CASP10_ENST00000272879.5_Intron|CASP10_ENST00000346817.5_Intron NM_032977.3 NP_116759.2 Q92851 CASPA_HUMAN caspase 10, apoptosis-related cysteine peptidase NA NA apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|innate immune response (GO:0045087)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981) CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342) cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|death effector domain binding (GO:0035877)|ubiquitin protein ligase binding (GO:0031625) breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 27 TTCTTTTATTCCttttttaat 0.418 NA C||| 411 0.0820687 0.0008 0.1499 5008 , , NA 16086 0.2966 NA 0.0 False NA ,,, NA NA NA 2504 0.0072 NA NA NA NA 0 C ,,,,, 17,4387 16.8+/-37.8 0,17,2185 37 39 38 ,,,,, -0.3 0 2 dbSNP_120 38 18,8582 7.1+/-27.0 0,18,4282 no intron,intron,intron,intron,intron,intron CASP10 NM_001206524.1,NM_001206542.1,NM_001230.4,NM_032974.4,NM_032976.3,NM_032977.3 ,,,,, 0,35,6467 TT,TC,CC 0.2093,0.386,0.2691 ,,,,, ,,,,, 202070718 35,12969 2202 4300 6502 SO:0001627 intron_variant U60519 CCDS2338.1, CCDS2339.1, CCDS2340.1, CCDS56159.1, CCDS56160.1 2q33-q34 2014-09-17 2005-08-17 ENSG00000003400 ENSG00000003400 843 3.4.22.63 Caspases 1500 protein-coding gene gene with protein product 601762 caspase 10, apoptosis-related cysteine protease NA 8755496 Standard NM_032977 NM_032974 NA Approved MCH4 uc002uxj.1 Q92851 OTTHUMG00000132818 ENST00000286186.6:c.813+22C>T chr2.hg19:g.202070718C>T NA Q68HC0|Q6KF62|Q6KF63|Q8IUP5|Q8WYQ8|Q99845|Q9Y2U6|Q9Y2U7 hg19 CCDS2340.1 0.02 2.07367 ATTxCTT COVERED NOVEL CASP10-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000256272.2 0 3.31064 KEEP 0 0 0 11 380 CC 0.993072 0.989819 0 + 5 60 175 1 0 12.065987 65 60 2327 90 ENST00000286186.6 0.071429 0.996724 TRAK2 66008 __UNKNOWN__ __UNKNOWN__ 2 202249060 202249060 __UNKNOWN__ Intron SNP C C T rs2540328 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:202249060C>T ENST00000332624.3 - 15 2392 NM_015049.2 NP_055864.2 O60296 TRAK2_HUMAN trafficking protein, kinesin binding 2 NA NA protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357) cytoplasm (GO:0005737)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886) GABA receptor binding (GO:0050811)|receptor binding (GO:0005102) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1) 23 TAAAAATCCCCAAATCTGGAA 0.254 NA C||| 1197 0.239018 0.2095 0.3905 5008 , , NA 16710 0.2431 NA 0.3141 False NA ,,, NA NA NA 2504 0.09 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB038951 CCDS2347.1 2q33.1 2012-03-05 2005-12-13 2005-12-13 ENSG00000115993 ENSG00000115993 66008 13206 protein-coding gene gene with protein product gamma-aminobutyric acid(A) receptor-interacting factor, milton homolog 2 (Drosophila), O-linked N-acetylglucosamine transferase interacting protein 98 607334 amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3 ALS2CR3 NA 11161814, 16380713, 20230862 Standard NM_015049 NM_015049 NA Approved CALS-C, KIAA0549, GRIF-1, OIP98, MILT2 uc002uyb.4 O60296 OTTHUMG00000132822 ENST00000332624.3:c.1964-121G>A chr2.hg19:g.202249060C>T NA E7EV21|Q8WVH7|Q96NS2|Q9C0K5|Q9C0K6 hg19 CCDS2347.1 0.02 2.222777 CCCxAAA COVERED NOVEL TRAK2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256284.3 1 3.009667 KEEP 0 0 0 10 340 CC 0.992708 0.963741 0 - 5 60 185 0 0 13.694546 48 60 1804 63 ENST00000332624.3 0.09434 0.97082 TRAK2 66008 __UNKNOWN__ __UNKNOWN__ 2 202252539 202252539 __UNKNOWN__ Missense_Mutation SNP G G A rs2244438 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:202252539G>A ENST00000332624.3 - 13 2011 c.1583C>T c.(1582-1584)aCa>aTa p.T528I NM_015049.2 NP_055864.2 O60296 TRAK2_HUMAN trafficking protein, kinesin binding 2 528 NA T -> I (in dbSNP:rs2244438). {ECO:0000269|PubMed:11161814}. protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357) cytoplasm (GO:0005737)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886) GABA receptor binding (GO:0050811)|receptor binding (GO:0005102) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1) 23 AAGGCTCTCTGTCGGGGTGAC 0.493 NA G||| 1197 0.239018 0.2095 0.3905 5008 , , NA 17694 0.2431 NA 0.3141 False NA ,,, NA NA NA 2504 0.09 NA NA NA NA 0 G ILE/THR 1027,3379 380.4+/-323.7 126,775,1302 105 100 102 1583 4.1 0.4 2 dbSNP_100 102 2617,5983 423.0+/-354.2 382,1853,2065 yes missense TRAK2 NM_015049.2 89 508,2628,3367 AA,AG,GG 30.4302,23.3091,28.0178 probably-damaging 528/915 202252539 3644,9362 2203 4300 6503 SO:0001583 missense AB038951 CCDS2347.1 2q33.1 2012-03-05 2005-12-13 2005-12-13 ENSG00000115993 ENSG00000115993 66008 13206 protein-coding gene gene with protein product gamma-aminobutyric acid(A) receptor-interacting factor, milton homolog 2 (Drosophila), O-linked N-acetylglucosamine transferase interacting protein 98 607334 amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3 ALS2CR3 NA 11161814, 16380713, 20230862 Standard NM_015049 NM_015049 NA Approved CALS-C, KIAA0549, GRIF-1, OIP98, MILT2 uc002uyb.4 O60296 OTTHUMG00000132822 ENST00000332624.3:c.1583C>T chr2.hg19:g.202252539G>A ENSP00000328875:p.Thr528Ile NA E7EV21|Q8WVH7|Q96NS2|Q9C0K5|Q9C0K6 hg19 CCDS2347.1 0.02 12.520904 TCTxTCG COVERED 633 0.28983516483516486 111 0.22560975609756098 145 0.4005524861878453 145 0.2534965034965035 232 0.30606860158311344 G 8.488 0.861341 0.17178 0.233091 0.304302 ENSG00000115993 ENST00000332624;ENST00000542292 T 0.45276 0.9 4.94 4.07 0.47477 Trafficking kinesin-binding protein domain (1); 0.566917 0.19621 N 0.109919 T 0.00012 0.0000 M 0.66939 2.045 0.32117 P 0.5885210000000001 B 0.23249 0.082 B 0.20577 0.03 T 0.32134 -0.9918 9 0.72032 D 0.01 . 10.4782 0.44678 0.1554:0.0:0.8446:0.0 rs2244438;rs52836839;rs60941354;rs2244438 528 O60296 TRAK2_HUMAN I 528;434 ENSP00000328875:T528I ENSP00000328875:T528I T - 2 0 TRAK2 201960784 0.036000 0.19791 0.398000 0.26321 0.143000 0.21401 1.979000 0.40608 1.334000 0.45468 0.655000 0.94253 ACA NOVEL TRAK2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256284.3 5 22.573855 KEEP 0 0 0 75 2684 GG 1 1 0 - 17 60 577 0 0 36.534814 326 60 12397 503 ENST00000332624.3 0.049563 1 TRAK2 66008 __UNKNOWN__ __UNKNOWN__ 2 202252856 202252856 __UNKNOWN__ Intron SNP T T C rs2540330 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:202252856T>C ENST00000332624.3 - 13 1826 NM_015049.2 NP_055864.2 O60296 TRAK2_HUMAN trafficking protein, kinesin binding 2 NA NA protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357) cytoplasm (GO:0005737)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886) GABA receptor binding (GO:0050811)|receptor binding (GO:0005102) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1) 23 ACCTGGAATATAGAAGTAATA 0.313 NA T||| 1199 0.239417 0.2103 0.3905 5008 , , NA 17304 0.2431 NA 0.3141 False NA ,,, NA NA NA 2504 0.091 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB038951 CCDS2347.1 2q33.1 2012-03-05 2005-12-13 2005-12-13 ENSG00000115993 ENSG00000115993 66008 13206 protein-coding gene gene with protein product gamma-aminobutyric acid(A) receptor-interacting factor, milton homolog 2 (Drosophila), O-linked N-acetylglucosamine transferase interacting protein 98 607334 amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3 ALS2CR3 NA 11161814, 16380713, 20230862 Standard NM_015049 NM_015049 NA Approved CALS-C, KIAA0549, GRIF-1, OIP98, MILT2 uc002uyb.4 O60296 OTTHUMG00000132822 ENST00000332624.3:c.1398-132A>G chr2.hg19:g.202252856T>C NA E7EV21|Q8WVH7|Q96NS2|Q9C0K5|Q9C0K6 hg19 CCDS2347.1 0.02 4.955252 ATAxAGA COVERED NOVEL TRAK2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256284.3 0 4.210331 KEEP 0 0 0 14 409 TT 0.995343 0.995343 0 - 6 60 240 0 0 16.127402 133 60 4683 158 ENST00000332624.3 0.043165 1 TRAK2 66008 __UNKNOWN__ __UNKNOWN__ 2 202252873 202252873 __UNKNOWN__ Intron SNP A A C rs2540331 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:202252873A>C ENST00000332624.3 - 13 1826 NM_015049.2 NP_055864.2 O60296 TRAK2_HUMAN trafficking protein, kinesin binding 2 NA NA protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357) cytoplasm (GO:0005737)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886) GABA receptor binding (GO:0050811)|receptor binding (GO:0005102) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1) 23 AATAACAACAAACCAAAATCA 0.303 NA A||| 1185 0.236621 0.2012 0.389 5008 , , NA 17476 0.2431 NA 0.3141 False NA ,,, NA NA NA 2504 0.09 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB038951 CCDS2347.1 2q33.1 2012-03-05 2005-12-13 2005-12-13 ENSG00000115993 ENSG00000115993 66008 13206 protein-coding gene gene with protein product gamma-aminobutyric acid(A) receptor-interacting factor, milton homolog 2 (Drosophila), O-linked N-acetylglucosamine transferase interacting protein 98 607334 amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3 ALS2CR3 NA 11161814, 16380713, 20230862 Standard NM_015049 NM_015049 NA Approved CALS-C, KIAA0549, GRIF-1, OIP98, MILT2 uc002uyb.4 O60296 OTTHUMG00000132822 ENST00000332624.3:c.1398-149T>G chr2.hg19:g.202252873A>C NA E7EV21|Q8WVH7|Q96NS2|Q9C0K5|Q9C0K6 hg19 CCDS2347.1 0.02 4.736755 ACAxACC COVERED NOVEL TRAK2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256284.3 0 2.405208 KEEP 0 0 0 8 215 AA 0.99257 0.99256 0 - 5 60 188 0 0 12.417597 102 60 3616 116 ENST00000332624.3 0.046729 0.999989 STRADB 55437 __UNKNOWN__ __UNKNOWN__ 2 202342802 202342802 __UNKNOWN__ Intron SNP T T C rs2243791 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:202342802T>C ENST00000194530.3 + 9 1085 STRADB_ENST00000392249.2_Intron NM_001206864.1|NM_018571.5 NP_001193793.1|NP_061041.2 Q9C0K7 STRAB_HUMAN STE20-related kinase adaptor beta NA NA activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|cell morphogenesis (GO:0000902)|insulin receptor signaling pathway (GO:0008286)|JNK cascade (GO:0007254)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|protein export from nucleus (GO:0006611) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634) ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772) breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1) 13 ATTAATTGTGTCCTACAGGAT 0.358 NA T||| 1216 0.242812 0.2156 0.3905 5008 , , NA 19562 0.253 NA 0.3151 False NA ,,, NA NA NA 2504 0.09 NA NA NA NA 0 T , 1043,3363 377.5+/-322.5 128,787,1288 92 90 91 , 1.8 0.1 2 dbSNP_100 91 2616,5984 417.6+/-352.5 382,1852,2066 no intron,intron STRADB NM_001206864.1,NM_018571.5 , 510,2639,3354 CC,CT,TT 30.4186,23.6723,28.1332 , , 202342802 3659,9347 2203 4300 6503 SO:0001627 intron_variant AB038950 CCDS2348.1, CCDS56161.1 2q33.1 2010-09-30 2008-09-15 2008-09-15 ENSG00000082146 ENSG00000082146 55437 13205 protein-coding gene gene with protein product 607333 amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 2 ALS2CR2 NA 11161814, 14511394 Standard NM_018571 NM_018571 NA Approved CALS-21, PAPK, ILPIPA, ILPIP uc002uyd.4 Q9C0K7 OTTHUMG00000132831 ENST00000194530.3:c.721-8T>C chr2.hg19:g.202342802T>C NA Q5BKY7|Q9P1L0 hg19 CCDS2348.1 0.02 1.872017 GTGxCCT COVERED NOVEL STRADB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256297.1 0 2.407072 KEEP 0 0 0 8 241 TT 0.99257 0.992466 0 + 5 60 184 0 0 12.329335 88 60 3041 101 ENST00000194530.3 0.053763 0.999895 AC079354.1 0 __UNKNOWN__ __UNKNOWN__ 2 203003085 203003085 __UNKNOWN__ Intron SNP T T C rs16838883 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:203003085T>C ENST00000409515.3 + 14 2244 AC079354.1_ENST00000295844.3_Intron|AC079354.1_ENST00000541917.1_Intron NA NA NA GTGTGTATGGTATATATAAAA 0.358 NA T||| 2029 0.405152 0.3669 0.4035 5008 , , NA 18697 0.5833 NA 0.3419 False NA ,,, NA NA NA 2504 0.3395 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000409515.3:c.2245-70T>C chr2.hg19:g.203003085T>C NA hg19 0.02 9.300684 TGGxATA COVERED NOVEL AC079354.1-001 KNOWN basic processed_transcript NA protein_coding OTTHUMT00000336161.2 1 13.229976 KEEP 0 0 0 44 1209 TT 1 1 0 + 17 60 586 0 0 41.242533 194 60 6569 268 ENST00000409515.3 0.080569 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 203066419 203066419 __UNKNOWN__ IGR SNP C C T rs10931992 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:203066419C>T NA NA AC079354.5 (22305 upstream) : SUMO1 (4483 downstream) NA NA NA TCCAGGAAAGCGGCCGACATG 0.557 NA C||| 1432 0.285942 0.1271 0.2651 5008 , , NA 19759 0.5704 NA 0.2744 False NA ,,, NA NA NA 2504 0.2342 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.203066419C>T NA hg19 0.02 1.981097 AAGxGGC COVERED NOVEL 0 0 3.310672 KEEP 0 0 0 11 389 CC 0.993072 0.977343 0 4 60 140 0 0 9.595554 54 60 1820 79 0.068966 0.984161 BMPR2 659 __UNKNOWN__ __UNKNOWN__ 2 203395816 203395816 __UNKNOWN__ Intron SNP A A C rs539333261 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:203395816A>C ENST00000374574.2 + 8 1169 BMPR2_ENST00000374580.4_Intron Q13873 BMPR2_HUMAN bone morphogenetic protein receptor, type II (serine/threonine kinase) NA NA activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841) apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886) activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024) autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2) 42 acctaaggtaaagagttcgag 0.488 NA A||| 4 0.000798722 0.0 0.0 5008 , , NA 18591 0.004 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Z48923 CCDS33361.1 2q33-q34 2014-09-17 ENSG00000204217 ENSG00000204217 659 1078 protein-coding gene gene with protein product 600799 primary pulmonary hypertension 1 PPH1 NA 7791754 Standard NM_001204 NM_001204 NA Approved BRK-3, T-ALK, BMPR3, BMPR-II uc002uzf.4 Q13873 OTTHUMG00000133617 ENST00000374574.2:c.1128+139A>C chr2.hg19:g.203395816A>C NA Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8 hg19 0.02 -0.350914 GTAxAGA COVERED NOVEL BMPR2-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000257744.1 2 2.406791 KEEP 0 0 0 8 236 AA 0.99257 0.871187 0 + 3 60 114 0 0 8.204703 37 60 1334 51 ENST00000374574.2 0.075 0.877708 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 203638183 203638183 __UNKNOWN__ IGR SNP A A G rs7598328 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:203638183A>G NA NA FAM117B (3703 upstream) : ICA1L (2506 downstream) NA NA NA TCACATGTCAATTAGGGATGT 0.348 NA A||| 1977 0.394768 0.2784 0.3674 5008 , , NA 19632 0.3105 NA 0.4523 False NA ,,, NA NA NA 2504 0.5992 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.203638183A>G NA hg19 0.02 4.179099 TCAxTTA COVERED NOVEL 0 1 11.736847 KEEP 0 0 0 39 1283 AA 1 0.999999 0 6 60 225 0 0 14.910928 119 60 4392 212 0.048 0.999999 ICA1L 130026 __UNKNOWN__ __UNKNOWN__ 2 203642155 203642155 __UNKNOWN__ 3'UTR SNP G G A rs62194158 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:203642155G>A ENST00000392237.2 - 0 3707 NM_138468.4 NP_612477.3 Q8NDH6 ICA1L_HUMAN islet cell autoantigen 1,69kDa-like NA NA breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 ATTGGGATTCGTAATCATGAT 0.413 NA G||| 1776 0.354633 0.1392 0.3501 5008 , , NA 20660 0.3194 NA 0.4503 False NA ,,, NA NA NA 2504 0.5869 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB053317 CCDS2354.1, CCDS74632.1 2q33 2008-02-05 2006-05-26 2006-05-26 ENSG00000163596 ENSG00000163596 130026 14442 protein-coding gene gene with protein product amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 15, amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 14 ALS2CR15, ALS2CR14 NA 11586298 Standard NM_138468 NM_138468 NA Approved uc002uzh.1 Q8NDH6 OTTHUMG00000132856 ENST00000392237.2:c.*2101C>T chr2.hg19:g.203642155G>A NA B3KRW6|Q53P45|Q53QZ4|Q53T97|Q96N47|Q96Q32|Q9BVQ2 hg19 CCDS2354.1 0.02 6.743243 TTCxTAA COVERED NOVEL ICA1L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256330.1 3 12.339489 KEEP 0 0 0 41 1410 GG 1 1 0 - 14 60 527 0 0 37.481057 182 60 6359 294 ENST00000392237.2 0.071429 1 CARF 79800 __UNKNOWN__ __UNKNOWN__ 2 203848724 203848724 __UNKNOWN__ 3'UTR SNP G G A rs62183749 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:203848724G>A ENST00000402905.3 + 0 2876 WDR12_ENST00000477723.1_Intron|CARF_ENST00000545262.1_3'UTR|CARF_ENST00000320443.8_3'UTR|CARF_ENST00000438828.2_3'UTR NM_001104586.1|NM_001282910.1|NM_001282911.1|NM_001282912.1 NP_001098056.1|NP_001269839.1|NP_001269840.1|NP_001269841.1 Q8N187 CARTF_HUMAN calcium responsive transcription factor NA NA cellular response to calcium ion (GO:0071277)|cellular response to potassium ion (GO:0035865)|positive regulation of transcription from RNA polymerase II promoter in response to calcium ion (GO:0061400) nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700) NA Ttgtgtgaatgtatgtttgta 0.279 NA G||| 1965 0.392372 0.1513 0.3991 5008 , , NA 17762 0.3234 NA 0.5487 False NA ,,, NA NA NA 2504 0.6237 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB053309 CCDS42801.1, CCDS63091.1 2q33.3 2013-06-12 2013-06-12 2013-06-12 ENSG00000138380 ENSG00000138380 79800 14435 protein-coding gene gene with protein product calcium-response factor 607586 amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8 ALS2CR8 NA 11586298, 11832226 Standard NM_001104586 XM_005246858 NA Approved FLJ21579, CaRF, NYD-SP24 uc002uzo.2 Q8N187 OTTHUMG00000154528 ENST00000402905.3:c.*377G>A chr2.hg19:g.203848724G>A NA B4E1W7|G3V1K7|Q8ND29|Q8WXC0|Q96J78|Q96Q38|Q96Q39|Q9H712 hg19 CCDS42801.1 0.02 12.662415 AATxTAT COVERED NOVEL CARF-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000335768.5 4 18.059004 KEEP 0 0 0 60 2133 GG 1 1 0 + 15 60 531 0 0 34.319164 289 60 10957 422 ENST00000402905.3 0.049342 1 NBEAL1 65065 __UNKNOWN__ __UNKNOWN__ 2 203994948 203994948 __UNKNOWN__ Intron SNP G G C rs184048496 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:203994948G>C ENST00000449802.1 + 24 3651 NM_001114132.1 NP_001107604.1 Q6ZS30 NBEL1_HUMAN neurobeachin-like 1 NA NA NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 ACATTATATAGGATTTAATTA 0.308 NA G||| 12 0.00239617 0.0 0.0 5008 , , NA 18274 0.0109 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY172970 CCDS46495.1 2q33 2013-01-10 ENSG00000144426 ENSG00000144426 65065 WD repeat domain containing 20681 protein-coding gene gene with protein product 609816 amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17, amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16 ALS2CR17, ALS2CR16 NA 15193433 Standard NM_001114132 NA Approved MGC164581 uc002uzt.3 Q6ZS30 OTTHUMG00000154129 ENST00000449802.1:c.3319-93G>C chr2.hg19:g.203994948G>C NA A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31 hg19 CCDS46495.1 0.02 1.719539 ATAxGAT COVERED NOVEL NBEAL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000333982.4 3 4.514216 KEEP 0 0 0 15 506 GG 0.99649 0.996446 0 + 4 60 150 0 0 9.635096 95 60 3566 114 ENST00000449802.1 0.040404 0.999956 CYP20A1 57404 __UNKNOWN__ __UNKNOWN__ 2 204116660 204116660 __UNKNOWN__ Intron SNP A A T rs3731694 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:204116660A>T ENST00000429815.2 + 4 370 CYP20A1_ENST00000461371.1_Intron|CYP20A1_ENST00000356079.4_Intron Q6UW02 CP20A_HUMAN cytochrome P450, family 20, subfamily A, polypeptide 1 NA NA integral component of membrane (GO:0016021)|membrane (GO:0016020) heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705) cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 11 GATTATTTTGATACAGAAATA 0.368 NA A||| 2037 0.406749 0.1717 0.4496 5008 , , NA 10609 0.3204 NA 0.5626 False NA ,,, NA NA NA 2504 0.6227 NA NA NA NA 0 A 1065,3337 355.1+/-312.9 129,807,1265 47 47 47 2.5 0 2 dbSNP_107 47 4815,3785 601.4+/-394.4 1352,2111,837 no intron CYP20A1 NM_177538.2 1481,2918,2102 TT,TA,AA 44.0116,24.1935,45.2238 204116660 5880,7122 2201 4300 6501 SO:0001627 intron_variant AK021770 CCDS2357.1 2q33 2008-02-05 ENSG00000119004 ENSG00000119004 57404 Cytochrome P450s 20576 protein-coding gene gene with protein product NA Standard NM_020674 NM_177538 NA Approved CYP-M uc002uzv.4 Q6UW02 OTTHUMG00000132854 ENST00000429815.2:c.290-30A>T chr2.hg19:g.204116660A>T NA Q4ZG61|Q8N4Q8|Q8WWA9|Q9HC04 hg19 0.02 6.042528 TTGxTAC COVERED NOVEL CYP20A1-003 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000336102.1 1 13.541231 KEEP 0 0 0 45 1445 AA 1 1 0 + 9 60 317 0 0 20.398719 175 60 6244 255 ENST00000429815.2 0.048913 1 CYP20A1 57404 __UNKNOWN__ __UNKNOWN__ 2 204154552 204154552 __UNKNOWN__ Missense_Mutation SNP C C T rs1048013 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:204154552C>T ENST00000429815.2 + 10 1141 c.1060C>T c.(1060-1062)Ctt>Ttt p.L354F CYP20A1_ENST00000461371.1_3'UTR|CYP20A1_ENST00000356079.4_Missense_Mutation_p.L346F Q6UW02 CP20A_HUMAN cytochrome P450, family 20, subfamily A, polypeptide 1 346 NA integral component of membrane (GO:0016021)|membrane (GO:0016020) heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705) cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 11 TTCTGCCCAGCTTCAAGATAT 0.318 NA C||| 2003 0.39996 0.149 0.4438 5008 , , NA 13211 0.3194 NA 0.5606 False NA ,,, NA NA NA 2504 0.6258 NA NA NA NA 0 C PHE/LEU 979,3427 364.1+/-316.8 108,763,1332 61 58 59 1036 5.6 1 2 dbSNP_86 59 4837,3763 614.1+/-396.2 1365,2107,828 yes missense CYP20A1 NM_177538.2 22 1473,2870,2160 TT,TC,CC 43.7558,22.2197,44.7178 benign 346/463 204154552 5816,7190 2203 4300 6503 SO:0001583 missense AK021770 CCDS2357.1 2q33 2008-02-05 ENSG00000119004 ENSG00000119004 57404 Cytochrome P450s 20576 protein-coding gene gene with protein product NA Standard NM_020674 NM_177538 NA Approved CYP-M uc002uzv.4 Q6UW02 OTTHUMG00000132854 ENST00000429815.2:c.1060C>T chr2.hg19:g.204154552C>T ENSP00000407860:p.Leu354Phe NA Q4ZG61|Q8N4Q8|Q8WWA9|Q9HC04 hg19 0.02 8.790044 CAGxTTC COVERED 835 0.3823260073260073 84 0.17073170731707318 183 0.505524861878453 158 0.2762237762237762 410 0.5408970976253298 C 14.49 2.549672 0.45383 0.222197 0.562442 ENSG00000119004 ENST00000356079;ENST00000421618;ENST00000429815 T;T 0.70164 -0.46;-0.46 5.6 5.6 0.85130 . 0.060804 0.64402 D 0.000004 T 0.00012 0.0000 L 0.54323 1.7 0.20873 P 0.999831543 B;B 0.12013 0.003;0.005 B;B 0.18871 0.015;0.023 T 0.44997 -0.9291 9 0.12766 T 0.61 -8.4726 19.6715 0.95914 0.0:1.0:0.0:0.0 rs1048013;rs3188004;rs17415875;rs17858536;rs17859053;rs52814168;rs58200424;rs1048013 354;346 E9PHG5;Q6UW02 .;CP20A_HUMAN F 346;319;354 ENSP00000348380:L346F;ENSP00000407860:L354F ENSP00000348380:L346F L + 1 0 CYP20A1 203862797 1.000000 0.71417 1.000000 0.80357 0.971000 0.66376 4.719000 0.61937 2.667000 0.90743 0.580000 0.79431 CTT NOVEL CYP20A1-003 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000336102.1 5 24.379824 KEEP 0 0 0 81 2931 CC 1 1 0 + 10 60 374 0 0 24.218853 225 60 8670 438 ENST00000429815.2 0.042553 1 ABI2 10152 __UNKNOWN__ __UNKNOWN__ 2 204292517 204292517 __UNKNOWN__ 3'UTR SNP T T C rs2469954 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:204292517T>C ENST00000422511.2 + 0 1916 ABI2_ENST00000261016.6_3'UTR|ABI2_ENST00000295851.5_3'UTR|RAPH1_ENST00000457812.1_Intron|ABI2_ENST00000424558.1_3'UTR|ABI2_ENST00000261017.5_3'UTR|ABI2_ENST00000261018.7_3'UTR Q9NYB9 ABI2_HUMAN abl-interactor 2 NA NA actin polymerization or depolymerization (GO:0008154)|cell migration (GO:0016477)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|Rac protein signal transduction (GO:0016601) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209) cytoskeletal adaptor activity (GO:0008093)|DNA binding (GO:0003677)|kinase binding (GO:0019900)|proline-rich region binding (GO:0070064)|protein complex binding (GO:0032403)|SH3 domain binding (GO:0017124)|ubiquitin protein ligase binding (GO:0031625) breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1) 15 CCTAGCCCCTTCTTTTCTTCC 0.443 NA C||| 3225 0.64397 0.7436 0.5706 5008 , , NA 19211 0.4931 NA 0.5994 False NA ,,, NA NA NA 2504 0.7628 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF260261 CCDS2358.1, CCDS63093.1, CCDS63094.1, CCDS74634.1 2q33 2010-09-20 2009-07-23 ENSG00000138443 ENSG00000138443 10152 24011 protein-coding gene gene with protein product 606442 NA 7590236, 10964520 Standard NM_005759 XM_005246217 NA Approved ABI-2, AIP-1, ABI2B, AblBP3, argBPIA, SSH3BP2 uc002uzz.3 Q9NYB9 OTTHUMG00000132879 ENST00000422511.2:c.*442T>C chr2.hg19:g.204292517T>C NA B4DSN1|Q13147|Q13249|Q13801|Q9BV70 hg19 0.02 4.341023 CCTxCTT COVERED NOVEL ABI2-007 NOVEL not_organism_supported|basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000336179.2 3 6.018461 KEEP 0 0 0 20 642 TT 0.999863 0.999861 0 + 10 60 373 0 0 27.243071 107 60 3847 159 ENST00000422511.2 0.08547 0.999998 RAPH1 65059 __UNKNOWN__ __UNKNOWN__ 2 204301296 204301296 __UNKNOWN__ 3'UTR SNP G G A rs2250522 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:204301296G>A ENST00000319170.5 - 0 6916 ABI2_ENST00000295851.5_3'UTR|RAPH1_ENST00000457812.1_Intron NM_213589.1 NP_998754.1 Q70E73 RAPH1_HUMAN Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 NA NA axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165) cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886) breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 GTAGAAATTAGGAGTGTCACT 0.393 NA A||| 3236 0.646166 0.7421 0.5677 5008 , , NA 18939 0.5 NA 0.6064 False NA ,,, NA NA NA 2504 0.7638 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ584699 CCDS2359.1, CCDS2360.1 2q33 2013-01-10 2003-11-25 2003-11-26 ENSG00000173166 ENSG00000173166 65059 Pleckstrin homology (PH) domain containing 14436 protein-coding gene gene with protein product amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18 609035 amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9 ALS2CR9, ALS2CR18 NA Standard NM_025252 NM_203365 NA Approved KIAA1681 uc002vad.3 Q70E73 OTTHUMG00000132876 ENST00000319170.5:c.*2864C>T chr2.hg19:g.204301296G>A NA Q96Q37|Q9C0I2 hg19 CCDS2359.1 0.02 7.193922 TTAxGAG COVERED NOVEL RAPH1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000256363.2 2 6.62159 KEEP 0 0 0 22 783 GG 0.999879 0.999879 0 - 10 60 377 0 0 26.342821 146 60 5496 214 ENST00000319170.5 0.064103 1 RAPH1 65059 __UNKNOWN__ __UNKNOWN__ 2 204305093 204305093 __UNKNOWN__ Silent SNP T T C rs3814365 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:204305093T>C ENST00000319170.5 - 14 3119 c.2820A>G c.(2818-2820)ccA>ccG p.P940P ABI2_ENST00000295851.5_3'UTR|RAPH1_ENST00000457812.1_Intron|RAPH1_ENST00000374493.3_Silent_p.P992P NM_213589.1 NP_998754.1 Q70E73 RAPH1_HUMAN Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 940 NA axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165) cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886) breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 gtggaggtggtggtggtgggg 0.602 NA T||| 2080 0.415335 0.1513 0.4424 5008 , , NA 11816 0.3909 NA 0.5577 False NA ,,, NA NA NA 2504 0.6319 NA NA NA NA 0 T 973,3433 363.4+/-316.5 106,761,1336 46 47 47 2820 -6.9 0 2 dbSNP_107 47 4916,3684 617.5+/-396.7 1408,2100,792 no coding-synonymous RAPH1 NM_213589.1 1514,2861,2128 CC,CT,TT 42.8372,22.0835,45.2791 940/1251 204305093 5889,7117 2203 4300 6503 SO:0001819 synonymous_variant AJ584699 CCDS2359.1, CCDS2360.1 2q33 2013-01-10 2003-11-25 2003-11-26 ENSG00000173166 ENSG00000173166 65059 Pleckstrin homology (PH) domain containing 14436 protein-coding gene gene with protein product amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18 609035 amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9 ALS2CR9, ALS2CR18 NA Standard NM_025252 NM_203365 NA Approved KIAA1681 uc002vad.3 Q70E73 OTTHUMG00000132876 ENST00000319170.5:c.2820A>G chr2.hg19:g.204305093T>C NA Q96Q37|Q9C0I2 hg19 CCDS2359.1 0.02 8.111656 TGGxGGT COVERED NOVEL RAPH1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000256363.2 1 11.374702 KEEP 0 1 8 41 1168 TT 1 1 0 - 15 60 476 0 0 31.342474 195 60 6584 316 ENST00000319170.5 0.071429 1 RAPH1 65059 __UNKNOWN__ __UNKNOWN__ 2 204309325 204309325 __UNKNOWN__ Intron SNP G G A rs398088710|rs2246849 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:204309325G>A ENST00000319170.5 - 13 2076 RAPH1_ENST00000419464.1_Intron|RAPH1_ENST00000374489.2_Intron|ABI2_ENST00000295851.5_3'UTR|RAPH1_ENST00000439222.1_Intron|RAPH1_ENST00000457812.1_Intron|RAPH1_ENST00000308091.4_Intron|RAPH1_ENST00000423104.1_Intron|RAPH1_ENST00000374488.2_Intron|RAPH1_ENST00000374493.3_Intron NM_213589.1 NP_998754.1 Q70E73 RAPH1_HUMAN Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 NA NA axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165) cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886) breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 AGCCACTGATGAAAGAATTAA 0.328 NA A||| 2951 0.589257 0.711 0.5202 5008 , , NA 15992 0.3998 NA 0.5855 False NA ,,, NA NA NA 2504 0.6728 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ584699 CCDS2359.1, CCDS2360.1 2q33 2013-01-10 2003-11-25 2003-11-26 ENSG00000173166 ENSG00000173166 65059 Pleckstrin homology (PH) domain containing 14436 protein-coding gene gene with protein product amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18 609035 amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9 ALS2CR9, ALS2CR18 NA Standard NM_025252 NM_203365 NA Approved KIAA1681 uc002vad.3 Q70E73 OTTHUMG00000132876 ENST00000319170.5:c.1776+265C>T chr2.hg19:g.204309325G>A NA Q96Q37|Q9C0I2 hg19 CCDS2359.1 0.02 1.918039 GATxAAA COVERED NOVEL RAPH1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000256363.2 0 7.223737 KEEP 0 0 0 24 868 GG 0.999909 0.993613 0 - 7 60 228 0 0 16.504885 58 60 2198 107 ENST00000319170.5 0.107692 0.993703 RAPH1 65059 __UNKNOWN__ __UNKNOWN__ 2 204322298 204322298 __UNKNOWN__ Silent SNP T T C rs2469953 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:204322298T>C ENST00000319170.5 - 8 1412 c.1113A>G c.(1111-1113)aaA>aaG p.K371K RAPH1_ENST00000419464.1_Silent_p.K371K|RAPH1_ENST00000418114.1_Silent_p.K371K|RAPH1_ENST00000453034.1_Silent_p.K423K|RAPH1_ENST00000374489.2_Silent_p.K398K|RAPH1_ENST00000439222.1_Silent_p.K396K|RAPH1_ENST00000457812.1_Silent_p.K371K|RAPH1_ENST00000308091.4_Silent_p.K423K|RAPH1_ENST00000423104.1_Silent_p.K398K|RAPH1_ENST00000374488.2_Silent_p.K396K|RAPH1_ENST00000374493.3_Silent_p.K423K NM_213589.1 NP_998754.1 Q70E73 RAPH1_HUMAN Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 371 NA axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165) cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886) breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 CAGCTGTTTCTTTTTTCCCCA 0.373 NA C||| 2989 0.596845 0.7262 0.5245 5008 , , NA 18053 0.4067 NA 0.5905 False NA ,,, NA NA NA 2504 0.6759 NA NA NA NA 0 C , 3056,1350 448.8+/-348.8 1048,960,195 161 171 167 1269,1113 2.5 1 2 dbSNP_100 167 5170,3430 503.8+/-376.0 1558,2054,688 no coding-synonymous,coding-synonymous RAPH1 NM_203365.2,NM_213589.1 , 2606,3014,883 CC,CT,TT 39.8837,30.64,36.7523 , 423/645,371/1251 204322298 8226,4780 2203 4300 6503 SO:0001819 synonymous_variant AJ584699 CCDS2359.1, CCDS2360.1 2q33 2013-01-10 2003-11-25 2003-11-26 ENSG00000173166 ENSG00000173166 65059 Pleckstrin homology (PH) domain containing 14436 protein-coding gene gene with protein product amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18 609035 amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9 ALS2CR9, ALS2CR18 NA Standard NM_025252 NM_203365 NA Approved KIAA1681 uc002vad.3 Q70E73 OTTHUMG00000132876 ENST00000319170.5:c.1113A>G chr2.hg19:g.204322298T>C NA Q96Q37|Q9C0I2 hg19 CCDS2359.1 0.02 12.699839 TTCxTTT COVERED NOVEL RAPH1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000256363.2 4 20.463247 KEEP 0 0 0 68 2187 TT 1 1 0 - 13 60 505 0 0 34.405196 242 60 9063 448 ENST00000319170.5 0.05098 1 PARD3B 117583 __UNKNOWN__ __UNKNOWN__ 2 205990353 205990353 __UNKNOWN__ Silent SNP C C T rs2276676 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:205990353C>T ENST00000351153.1 + 10 1326 c.1326C>T c.(1324-1326)acC>acT p.T442T PARD3B_ENST00000349953.3_Silent_p.T442T|PARD3B_ENST00000406610.2_Silent_p.T442T|PARD3B_ENST00000462231.1_Silent_p.T442T|PARD3B_ENST00000358768.2_Silent_p.T442T Q8TEW8 PAR3L_HUMAN par-3 family cell polarity regulator beta 442 PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}. NA cell cycle (GO:0007049)|cell division (GO:0051301) membrane (GO:0016020)|tight junction (GO:0005923) breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 65 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) GAGATGTCACCGGACGAACCC 0.473 NA C||| 1538 0.307109 0.1097 0.4942 5008 , , NA 19117 0.4167 NA 0.3032 False NA ,,, NA NA NA 2504 0.3323 NA NA NA NA 0 C ,, 541,3443 32,477,1483 104 104 104 1326,1326,1326 -3.8 0.9 2 dbSNP_100 104 2656,5698 437,1782,1958 no coding-synonymous,coding-synonymous,coding-synonymous PARD3B NM_057177.6,NM_152526.5,NM_205863.3 ,, 469,2259,3441 TT,TC,CC 31.7932,13.5793,25.9118 ,, 442/1137,442/1144,442/1105 205990353 3197,9141 1992 4177 6169 SO:0001819 synonymous_variant AB053321 CCDS42804.1, CCDS42805.1, CCDS42806.1 2q33.3 2013-08-28 2013-08-28 2006-09-28 ENSG00000116117 ENSG00000116117 117583 14446 protein-coding gene gene with protein product amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19, par-3 partitioning defective 3 homolog B (C. elegans) ALS2CR19 NA 11586298, 12459187 Standard NM_057177 NM_057177 NA Approved Par3L, PAR3beta uc002vap.2 Q8TEW8 OTTHUMG00000154562 ENST00000351153.1:c.1326C>T chr2.hg19:g.205990353C>T NA E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29 hg19 CCDS42805.1 0.02 11.652144 CACxGGA COVERED NOVEL PARD3B-003 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000335994.1 1 10.166574 KEEP 0 1 32 45 1495 CC 1 1 0 + 10 60 384 0 0 24.586057 261 60 9147 377 ENST00000351153.1 0.0369 1 PARD3B 117583 __UNKNOWN__ __UNKNOWN__ 2 206480266 206480266 __UNKNOWN__ Missense_Mutation SNP C C T rs139455955 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:206480266C>T ENST00000351153.1 + 22 3140 c.3140C>T c.(3139-3141)gCt>gTt p.A1047V PARD3B_ENST00000349953.3_Missense_Mutation_p.A1015V|PARD3B_ENST00000406610.2_Missense_Mutation_p.A1116V|PARD3B_ENST00000488622.1_3'UTR|PARD3B_ENST00000358768.2_Missense_Mutation_p.A1054V Q8TEW8 PAR3L_HUMAN par-3 family cell polarity regulator beta 1116 NA cell cycle (GO:0007049)|cell division (GO:0051301) membrane (GO:0016020)|tight junction (GO:0005923) breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 65 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) TATCCAGGGGCTCATCCTATG 0.607 NA C||| 1 0.000199681 0.0 0.0 5008 , , NA 16453 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 76 82 80 NA NA 2 NA 206480266 1938 4136 6074 SO:0001583 missense AB053321 CCDS42804.1, CCDS42805.1, CCDS42806.1 2q33.3 2013-08-28 2013-08-28 2006-09-28 ENSG00000116117 ENSG00000116117 117583 14446 protein-coding gene gene with protein product amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19, par-3 partitioning defective 3 homolog B (C. elegans) ALS2CR19 NA 11586298, 12459187 Standard NM_057177 NM_057177 NA Approved Par3L, PAR3beta uc002vap.2 Q8TEW8 OTTHUMG00000154562 ENST00000351153.1:c.3140C>T chr2.hg19:g.206480266C>T ENSP00000317261:p.Ala1047Val NA E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29 hg19 CCDS42805.1 0.02 7.666208 GGGxTCA COVERED 1 4.578754578754579E-4 0 0.0 0 0.0 1 0.0017482517482517483 0 0.0 C 10.35 1.326711 0.24080 . . ENSG00000116117 ENST00000406610;ENST00000358768;ENST00000351153;ENST00000349953 T;T;T;T 0.11277 2.98;2.79;2.99;2.99 5.88 2.78 0.32641 . 0.662303 0.14050 N 0.344806 T 0.05547 0.0146 N 0.10874 0.06 0.23331 N 0.997895 B;B;B;B 0.06786 0.0;0.0;0.001;0.001 B;B;B;B 0.09377 0.002;0.002;0.003;0.004 T 0.33979 -0.9847 10 0.44086 T 0.13 . 5.956 0.19273 0.0:0.5276:0.1846:0.2878 . 1116;1047;1054;1015 Q8TEW8;E9PE87;Q8TEW8-2;Q8TEW8-5 PAR3L_HUMAN;.;.;. V 1116;1054;1047;1015 ENSP00000385848:A1116V;ENSP00000351618:A1054V;ENSP00000317261:A1047V;ENSP00000340280:A1015V ENSP00000340280:A1015V A + 2 0 PARD3B 206188511 0.692000 0.27719 0.978000 0.43139 0.191000 0.23601 0.506000 0.22658 0.841000 0.35020 0.655000 0.94253 GCT NOVEL PARD3B-003 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000335994.1 1 14.447095 KEEP 0 0 0 48 1717 CC 1 1 0 + 13 60 428 0 0 27.399574 214 60 7885 334 ENST00000351153.1 0.057269 1 PARD3B 117583 __UNKNOWN__ __UNKNOWN__ 2 206483259 206483259 __UNKNOWN__ 3'UTR SNP A A G rs74875888 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:206483259A>G ENST00000406610.2 + 0 6547 NM_057177.6|NM_152526.5|NM_205863.3 NP_476518.4|NP_689739.4|NP_995585.2 Q8TEW8 PAR3L_HUMAN par-3 family cell polarity regulator beta NA NA cell cycle (GO:0007049)|cell division (GO:0051301) membrane (GO:0016020)|tight junction (GO:0005923) breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 65 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) CAGAACACTAATAGCCCCCCT 0.478 NA A||| 31 0.0061901 0.0 0.0 5008 , , NA 18793 0.0298 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB053321 CCDS42804.1, CCDS42805.1, CCDS42806.1 2q33.3 2013-08-28 2013-08-28 2006-09-28 ENSG00000116117 ENSG00000116117 117583 14446 protein-coding gene gene with protein product amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19, par-3 partitioning defective 3 homolog B (C. elegans) ALS2CR19 NA 11586298, 12459187 Standard NM_057177 NM_057177 NA Approved Par3L, PAR3beta uc002vap.2 Q8TEW8 OTTHUMG00000154562 ENST00000406610.2:c.*2722A>G chr2.hg19:g.206483259A>G NA E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29 hg19 0.02 9.370811 CTAxTAG COVERED NOVEL PARD3B-001 KNOWN basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000335992.1 0 11.733465 KEEP 0 0 0 39 1195 AA 1 1 0 + 9 60 341 0 0 21.782577 228 60 8264 328 ENST00000406610.2 0.037975 1 NRP2 8828 __UNKNOWN__ __UNKNOWN__ 2 206547545 206547545 __UNKNOWN__ 5'UTR SNP T T C rs10090 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:206547545T>C ENST00000360409.3 + 0 322 NRP2_ENST00000355117.4_5'UTR|NRP2_ENST00000540841.1_5'UTR|NRP2_ENST00000540178.1_5'UTR|NRP2_ENST00000417189.1_5'UTR NM_003872.2|NM_201266.1|NM_201279.1 NP_003863.2|NP_957718|NP_958436.1 Q99435 NELL2_HUMAN neuropilin 2 NA NA extracellular region (GO:0005576) calcium ion binding (GO:0005509) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 52 CCTCCGCCCGTGTGTCCGTCA 0.677 NA C||| 2377 0.474641 0.4198 0.5043 5008 , , NA 12843 0.5446 NA 0.494 False NA ,,, NA NA NA 2504 0.4356 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF016098 CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1 2q33.3 2008-05-23 ENSG00000118257 ENSG00000118257 8828 8005 protein-coding gene gene with protein product 602070 NA 9529250, 9331348 Standard NM_003872 NA Approved VEGF165R2 uc002vaw.3 O60462 OTTHUMG00000132893 ENST00000360409.3:c.-470T>C chr2.hg19:g.206547545T>C NA B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2 hg19 CCDS2364.1 0.02 1.710108 CCGxGTG COVERED NOVEL NRP2-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000256392.1 1 17.146916 KEEP 0 0 0 57 1703 TT 1 0.994422 0 + 5 60 169 0 0 11.599116 61 60 2162 152 ENST00000360409.3 0.075758 0.994422 INO80D 54891 __UNKNOWN__ __UNKNOWN__ 2 206865159 206865159 __UNKNOWN__ 3'UTR SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:206865159G>A ENST00000403263.1 - 0 7421 AC007679.3_ENST00000422116.1_RNA NM_017759.4 NP_060229.3 Q53TQ3 IN80D_HUMAN INO80 complex subunit D NA NA DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2) 26 AAGCATCAGCGGACTGACCAC 0.478 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS46500.1 2q33.3 2011-07-06 ENSG00000114933 ENSG00000114933 54891 INO80 complex subunits 25997 protein-coding gene gene with protein product NA 16230350 Standard NM_017759 NM_017759 NA Approved FLJ20309 uc002vaz.4 Q53TQ3 OTTHUMG00000154649 ENST00000403263.1:c.*3933C>T chr2.hg19:g.206865159G>A NA B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5 hg19 CCDS46500.1 0.02 13.638008 AGCxGAC COVERED NOVEL INO80D-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000336459.1 3 26.786313 KEEP 0 0 0 89 3076 GG 1 1 0 - 14 60 503 0 0 32.08394 304 60 10587 519 ENST00000403263.1 0.044025 1 INO80D 54891 __UNKNOWN__ __UNKNOWN__ 2 206874339 206874339 __UNKNOWN__ Silent SNP G G A rs817991 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:206874339G>A ENST00000403263.1 - 9 2126 c.1722C>T c.(1720-1722)ccC>ccT p.P574P NM_017759.4 NP_060229.3 Q53TQ3 IN80D_HUMAN INO80 complex subunit D 574 NA DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2) 26 AGACGCTGGCGGGCATGCTGA 0.522 NA G||| 1941 0.38758 0.2035 0.3228 5008 , , NA 15169 0.502 NA 0.3499 False NA ,,, NA NA NA 2504 0.6033 NA NA NA NA 0 G 791,3167 78,635,1266 73 84 81 1722 4.9 1 2 dbSNP_86 81 2973,5367 543,1887,1740 no coding-synonymous INO80D NM_017759.4 621,2522,3006 AA,AG,GG 35.6475,19.9848,30.6066 574/1028 206874339 3764,8534 1979 4170 6149 SO:0001819 synonymous_variant CCDS46500.1 2q33.3 2011-07-06 ENSG00000114933 ENSG00000114933 54891 INO80 complex subunits 25997 protein-coding gene gene with protein product NA 16230350 Standard NM_017759 NM_017759 NA Approved FLJ20309 uc002vaz.4 Q53TQ3 OTTHUMG00000154649 ENST00000403263.1:c.1722C>T chr2.hg19:g.206874339G>A NA B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5 hg19 CCDS46500.1 0.02 2.012361 GGCxGGC COVERED NOVEL INO80D-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000336459.1 1 3.611243 KEEP 0 0 0 12 395 GG 0.993634 0.992508 0 - 7 60 262 0 0 19.354869 70 60 2333 107 ENST00000403263.1 0.090909 0.998867 INO80D 54891 __UNKNOWN__ __UNKNOWN__ 2 206911228 206911228 __UNKNOWN__ Splice_Site SNP G G A rs2909111 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:206911228G>A ENST00000403263.1 - 5 1477 c.1073C>T c.(1072-1074)gCg>gTg p.A358V NM_017759.4 NP_060229.3 Q53TQ3 IN80D_HUMAN INO80 complex subunit D 358 NA A -> V (in dbSNP:rs2909111). {ECO:0000269|PubMed:14702039}. DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2) 26 GAAGACTTACGCATGTCTTTG 0.512 NA G||| 1955 0.390375 0.236 0.3242 5008 , , NA 15885 0.4792 NA 0.3439 False NA ,,, NA NA NA 2504 0.6022 NA NA NA NA 0 G VAL/ALA 864,2874 98,668,1103 72 69 70 1073 -1.7 1 2 dbSNP_101 70 2939,5251 540,1859,1696 yes missense-near-splice INO80D NM_017759.4 64 638,2527,2799 AA,AG,GG 35.8852,23.114,31.883 benign 358/1028 206911228 3803,8125 1869 4095 5964 SO:0001630 splice_region_variant CCDS46500.1 2q33.3 2011-07-06 ENSG00000114933 ENSG00000114933 54891 INO80 complex subunits 25997 protein-coding gene gene with protein product NA 16230350 Standard NM_017759 NM_017759 NA Approved FLJ20309 uc002vaz.4 Q53TQ3 OTTHUMG00000154649 ENST00000403263.1:c.1073+1C>T chr2.hg19:g.206911228G>A NA B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5 hg19 CCDS46500.1 0.02 1.772362 TACxCAT COVERED 807 0.3695054945054945 136 0.2764227642276423 123 0.3397790055248619 289 0.5052447552447552 259 0.341688654353562 G 13.70 2.316205 0.40996 0.23114 0.358852 ENSG00000114933 ENST00000403263;ENST00000233270;ENST00000424117 T;T 0.42513 0.97;0.97 5.54 -1.7 0.08159 . 0.628168 0.17112 N 0.186596 T 0.00012 0.0000 N 0.08118 0 0.44825 P 0.0021640000000000548 B 0.06786 0.001 B 0.01281 0.0 T 0.46925 -0.9156 8 . . . . 4.9832 0.14176 0.5002:0.0:0.265:0.2348 rs2909111;rs52835029;rs60630711;rs2909111 358 Q53TQ3-2 . V 358;358;253 ENSP00000384198:A358V;ENSP00000402369:A253V . A - 2 0 INO80D 206619473 0.181000 0.23161 0.984000 0.44739 0.769000 0.43574 -0.045000 0.12003 -0.190000 0.10465 0.655000 0.94253 GCG NOVEL INO80D-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000336459.1 6 10.534123 KEEP 0 0 0 35 1217 GG 0.999999 0.999893 0 Missense_Mutation - 6 60 222 0 0 15.404123 87 60 2772 145 ENST00000403263.1 0.064516 0.999895 NDUFS1 4719 __UNKNOWN__ __UNKNOWN__ 2 206987363 206987363 __UNKNOWN__ 3'UTR SNP A A G rs76005083 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:206987363A>G ENST00000233190.6 - 0 3996 NM_005006.6 NP_004997.4 P28331 NDUS1_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase) NA NA apoptotic mitochondrial changes (GO:0008637)|ATP metabolic process (GO:0046034)|cellular metabolic process (GO:0044237)|cellular respiration (GO:0045333)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281) mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747) 2 iron, 2 sulfur cluster binding (GO:0051537)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137) breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 caaaaaaaaaaaaaaaacaaa 0.393 NA A||| 1281 0.255791 0.1369 0.2089 5008 , , NA 16992 0.4692 NA 0.168 False NA ,,, NA NA NA 2504 0.32 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS2366.1, CCDS56162.1, CCDS56163.1, CCDS56164.1, CCDS56165.1 2q33-q34 2011-07-04 2002-08-29 ENSG00000023228 ENSG00000023228 4719 1.6.5.3 Mitochondrial respiratory chain complex / Complex I 7707 protein-coding gene gene with protein product complex I 75kDa subunit, NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial 157655 NADH dehydrogenase (ubiquinone) Fe-S protein 1 (75kD) (NADH-coenzyme Q reductase) NA 1935949 Standard NM_005006 NM_005006 NA Approved CI-75k uc010ziq.2 P28331 OTTHUMG00000132892 ENST00000233190.6:c.*1546T>C chr2.hg19:g.206987363A>G NA B4DIN9|B4DJA0|B4DPG1|B4DUC1|E7ENF3|Q53TR8|Q8N1C4|Q8TCC9 hg19 CCDS2366.1 0.02 9.936433 AAAxAAA COVERED NOVEL NDUFS1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256391.4 61 50.813669 KEEP 10 0 0 169 5137 AA 1 1 0 - 19 60 727 0 0 57.373939 125 60 4541 488 ENST00000233190.6 0.131944 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 207911058 207911058 __UNKNOWN__ IGR SNP G G A rs374914143|rs6737558 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:207911058G>A NA NA CPO (76860 upstream) : KLF7 (27802 downstream) NA NA NA gaagaagaaggagaaggagaa 0.418 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.207911058G>A NA hg19 0.02 -0.12282 AAGxAGA UNCOVERED NOVEL 0 2 2.662578 KEEP 2 0 0 9 283 GG 0 0 0 5 40 173 0 0 16.145746 7 40 249 25 0.416667 0.196312 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 207911064 207911064 __UNKNOWN__ IGR SNP G G A rs377674566 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:207911064G>A NA NA CPO (76866 upstream) : KLF7 (27796 downstream) NA NA NA gaaggagaaggagaaggagaa 0.408 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.207911064G>A NA hg19 0.02 -0.149141 AAGxAGA COVERED NOVEL 0 2 2.963891 KEEP 2 0 0 10 329 GG 0.99257 0.289832 0 5 40 182 0 0 16.439153 10 40 352 29 0.333333 0.292001 KLF7 8609 __UNKNOWN__ __UNKNOWN__ 2 207941850 207941850 __UNKNOWN__ 3'UTR SNP C C T rs1263599 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:207941850C>T ENST00000309446.6 - 0 5372 NM_003709.3 NP_003700.1 O75840 KLF7_HUMAN Kruppel-like factor 7 (ubiquitous) NA NA axon guidance (GO:0007411)|dendrite morphogenesis (GO:0048813)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270) breast(1)|central_nervous_system(1)|large_intestine(3)|liver(1)|lung(4)|skin(1) 11 LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173) TATGAAGTGACTTCCATAAAG 0.368 NA C||| 1250 0.249601 0.3026 0.0965 5008 , , NA 17426 0.2976 NA 0.1829 False NA ,,, NA NA NA 2504 0.3057 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB015132 CCDS2373.1, CCDS59438.1, CCDS59439.1, CCDS59440.1 2q32 2013-01-08 ENSG00000118263 ENSG00000118263 8609 Kruppel-like transcription factors, Zinc fingers, C2H2-type 6350 protein-coding gene gene with protein product 604865 NA 9774444 Standard NM_003709 NM_003709 NA Approved UKLF uc010zix.2 O75840 OTTHUMG00000132935 ENST00000309446.6:c.*4087G>A chr2.hg19:g.207941850C>T NA B2RB03|B7Z4F7|C9JF04|E7EWH1|L0R4P2|Q7Z3H8|Q96E51 hg19 CCDS2373.1 0.02 9.264411 TGAxTTC COVERED NOVEL KLF7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256466.2 2 23.17556 KEEP 0 0 0 77 2783 CC 1 1 0 - 17 60 623 0 0 44.602315 198 60 7484 351 ENST00000309446.6 0.07907 1 KLF7 8609 __UNKNOWN__ __UNKNOWN__ 2 208030109 208030109 __UNKNOWN__ Intron SNP T T A rs57641951 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:208030109T>A ENST00000309446.6 - 1 479 KLF7_ENST00000421199.1_Intron|KLF7_ENST00000458272.1_Intron|KLF7_ENST00000423015.1_Intron NM_003709.3 NP_003700.1 O75840 KLF7_HUMAN Kruppel-like factor 7 (ubiquitous) NA NA axon guidance (GO:0007411)|dendrite morphogenesis (GO:0048813)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270) breast(1)|central_nervous_system(1)|large_intestine(3)|liver(1)|lung(4)|skin(1) 11 LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173) AAACAAAAATTTCAACCCAGA 0.463 NA T||| 66 0.0131789 0.0 0.0014 5008 , , NA 14891 0.0605 NA 0.0 False NA ,,, NA NA NA 2504 0.0041 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB015132 CCDS2373.1, CCDS59438.1, CCDS59439.1, CCDS59440.1 2q32 2013-01-08 ENSG00000118263 ENSG00000118263 8609 Kruppel-like transcription factors, Zinc fingers, C2H2-type 6350 protein-coding gene gene with protein product 604865 NA 9774444 Standard NM_003709 NM_003709 NA Approved UKLF uc010zix.2 O75840 OTTHUMG00000132935 ENST00000309446.6:c.102+81A>T chr2.hg19:g.208030109T>A NA B2RB03|B7Z4F7|C9JF04|E7EWH1|L0R4P2|Q7Z3H8|Q96E51 hg19 CCDS2373.1 0.02 14.698401 AATxTCA COVERED NOVEL KLF7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256466.2 5 100.460559 KEEP 0 0 0 334 10088 TT 1 1 0 - 19 60 668 0 0 43.450111 347 60 12411 988 ENST00000309446.6 0.051913 1 PTH2R 5746 __UNKNOWN__ __UNKNOWN__ 2 209315573 209315573 __UNKNOWN__ Intron SNP G G A rs1370371 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:209315573G>A ENST00000272847.2 + 8 1127 PTH2R_ENST00000413482.1_Intron NM_005048.2 NP_005039.1 P49190 PTH2R_HUMAN parathyroid hormone 2 receptor NA NA G-protein coupled receptor signaling pathway (GO:0007186) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) parathyroid hormone receptor activity (GO:0004991) breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836) Preotact(DB05829) AACCTCAGATGTTCTCAAGAC 0.498 NA G||| 2868 0.572684 0.2247 0.6499 5008 , , NA 17521 0.8671 NA 0.6571 False NA ,,, NA NA NA 2504 0.5982 NA NA NA NA 0 G 1177,3229 415.9+/-337.4 163,851,1189 67 69 68 -3.1 0 2 dbSNP_88 68 5389,3211 650.2+/-400.7 1674,2041,585 no intron PTH2R NM_005048.2 1837,2892,1774 AA,AG,GG 37.3372,26.7136,49.5156 209315573 6566,6440 2203 4300 6503 SO:0001627 intron_variant BC036811 CCDS2383.1 2q33 2012-08-10 2007-08-24 2007-08-24 ENSG00000144407 ENSG00000144407 5746 GPCR / Class B : Parathyroid hormone receptors 9609 protein-coding gene gene with protein product 601469 parathyroid hormone receptor 2 PTHR2 NA Standard NM_005048 NM_005048 NA Approved uc002vdb.4 P49190 OTTHUMG00000132960 ENST00000272847.2:c.914+39G>A chr2.hg19:g.209315573G>A NA Q8N429 hg19 CCDS2383.1 0.02 3.903901 GATxTTC COVERED NOVEL PTH2R-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256519.2 0 3.746725 KEEP 0 1 30 23 827 GG 0.999909 0.999909 0 + 10 60 355 0 0 24.473481 135 60 5104 201 ENST00000272847.2 0.068966 1 MAP2 4133 __UNKNOWN__ __UNKNOWN__ 2 210594540 210594540 __UNKNOWN__ Intron SNP A A G rs4673486 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:210594540A>G ENST00000360351.4 + 14 5661 MAP2_ENST00000447185.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000475600.1_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron NM_002374.3 NP_002365.3 P11137 MTAP2_HUMAN microtubule-associated protein 2 NA NA axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175) cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399) dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198) breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229) CGAATGCAAGATATAGTTAAA 0.373 NA A||| 3706 0.740016 0.4115 0.902 5008 , , NA 17810 0.8016 NA 0.8867 False NA ,,, NA NA NA 2504 0.8548 NA NA NA Pancreas(27;423 979 28787 29963) NA 0 A ,,, 2115,2291 576.3+/-384.2 522,1071,610 63 59 60 ,,, -2.3 0 2 dbSNP_111 60 7680,920 775.4+/-407.7 3431,818,51 no intron,intron,intron,intron MAP2 NM_001039538.1,NM_002374.3,NM_031845.2,NM_031847.2 ,,, 3953,1889,661 GG,GA,AA 10.6977,48.0027,24.6886 ,,, ,,, 210594540 9795,3211 2203 4300 6503 SO:0001627 intron_variant CCDS2384.1, CCDS2385.1, CCDS33369.1 2q34-q35 2008-05-27 ENSG00000078018 ENSG00000078018 4133 A-kinase anchor proteins 6839 protein-coding gene gene with protein product 157130 NA 3103857, 7479905 Standard NM_001039538 XM_005246554 NA Approved MAP2A, MAP2B, MAP2C uc002vde.1 P11137 OTTHUMG00000132962 ENST00000360351.4:c.5156-34A>G chr2.hg19:g.210594540A>G NA Q17S04|Q8IUX2|Q99975|Q99976 hg19 CCDS2384.1 0.02 17.968583 AAGxTAT COVERED NOVEL MAP2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000256521.2 2 8.132615 KEEP 0 3 112 66 2106 AA 1 1 0 + 20 60 751 0 0 49.381863 417 60 15340 618 ENST00000360351.4 0.045767 1 MAP2 4133 __UNKNOWN__ __UNKNOWN__ 2 210597704 210597704 __UNKNOWN__ 3'UTR SNP A A C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:210597704A>C ENST00000360351.4 + 0 8573 MAP2_ENST00000392194.1_3'UTR NM_002374.3 NP_002365.3 P11137 MTAP2_HUMAN microtubule-associated protein 2 NA NA axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175) cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399) dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198) breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229) GGTAGAACCTATCTTGCCTTC 0.393 NA NA NA NA NA NA NA NA NA NA Pancreas(27;423 979 28787 29963) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS2384.1, CCDS2385.1, CCDS33369.1 2q34-q35 2008-05-27 ENSG00000078018 ENSG00000078018 4133 A-kinase anchor proteins 6839 protein-coding gene gene with protein product 157130 NA 3103857, 7479905 Standard NM_001039538 XM_005246554 NA Approved MAP2A, MAP2B, MAP2C uc002vde.1 P11137 OTTHUMG00000132962 ENST00000360351.4:c.*2583A>C chr2.hg19:g.210597704A>C NA Q17S04|Q8IUX2|Q99975|Q99976 hg19 CCDS2384.1 0.02 4.72219 CCTxTCT COVERED NOVEL MAP2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000256521.2 0 3.308749 KEEP 0 0 0 11 327 AA 0.993072 0.993071 0 + 5 60 192 0 0 12.562262 115 60 4173 149 ENST00000360351.4 0.041667 0.999999 UNC80 285175 __UNKNOWN__ __UNKNOWN__ 2 210860289 210860289 __UNKNOWN__ Silent SNP G G A rs141603698 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:210860289G>A ENST00000272845.6 + 63 9709 c.9675G>A c.(9673-9675)acG>acA p.T3225T UNC80_ENST00000439458.1_Silent_p.T3249T NM_182587.3 NP_872393.3 Q8N2C7 UNC80_HUMAN unc-80 homolog (C. elegans) 3249 NA ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) p.T3249T(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1) 20 TGGGGAAAACGGATGCAGTAT 0.423 NA G||| 47 0.00938498 0.0 0.0 5008 , , NA 21366 0.0466 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) 64 55 58 NA NA 2 NA 210860289 692 1591 2283 SO:0001819 synonymous_variant AK090815 CCDS2387.1, CCDS46504.1, CCDS2387.2 2q35 2009-08-17 2009-08-17 2009-08-17 ENSG00000144406 ENSG00000144406 285175 26582 protein-coding gene gene with protein product 612636 chromosome 2 open reading frame 21 C2orf21 NA 19092807 Standard NM_182587 NM_032504 NA Approved FLJ33496, KIAA1843, UNC-80 uc010zjc.1 Q8N2C7 OTTHUMG00000132963 ENST00000272845.6:c.9675G>A chr2.hg19:g.210860289G>A NA B2RN50|B4DQY9|B4DZB3|C4IXS8|C9J1U3|Q96JI4|Q96SS0 hg19 CCDS2387.2 0.02 16.264679 AACxGAT COVERED NOVEL UNC80-007 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000336930.2 7 16.486041 KEEP 0 1 32 66 2211 GG 1 1 0 + 16 60 587 0 0 37.944546 343 60 11990 529 ENST00000272845.6 0.044568 1 LANCL1 10314 __UNKNOWN__ __UNKNOWN__ 2 211297955 211297955 __UNKNOWN__ 3'UTR SNP T T G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:211297955T>G ENST00000443314.1 - 0 2798 AC007970.1_ENST00000433296.1_RNA|AC007970.1_ENST00000420418.1_RNA|LANCL1_ENST00000450366.2_3'UTR|LANCL1_ENST00000441020.3_3'UTR O43813 LANC1_HUMAN LanC lantibiotic synthetase component C-like 1 (bacterial) NA NA G-protein coupled receptor signaling pathway (GO:0007186) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634) catalytic activity (GO:0003824)|G-protein coupled receptor activity (GO:0004930)|glutathione binding (GO:0043295)|low-density lipoprotein particle receptor binding (GO:0050750)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270) breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1) 12 Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569) TCAAAACACTTGAACAGAATT 0.368 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Y11395 CCDS2392.1 2q33-q35 2008-05-23 2001-12-04 ENSG00000115365 ENSG00000115365 10314 6508 protein-coding gene gene with protein product 604155 LanC (bacterial lantibiotic synthetase component C)-like 1 GPR69A NA 9512664 Standard NM_006055 NM_001136574 NA Approved p40 uc010zjh.2 O43813 OTTHUMG00000132991 ENST00000443314.1:c.*1256A>C chr2.hg19:g.211297955T>G NA hg19 CCDS2392.1 0.02 6.813419 ACTxGAA COVERED NOVEL LANCL1-005 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000336817.1 2 15.043034 KEEP 0 0 0 50 1553 TT 1 1 0 - 9 60 340 0 0 22.606004 179 60 6480 293 ENST00000443314.1 0.047872 1 CPS1 1373 __UNKNOWN__ __UNKNOWN__ 2 211420976 211420976 __UNKNOWN__ Intron SNP G G A rs4142155 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:211420976G>A ENST00000430249.2 + 2 58 NM_001122633.2 NP_001116105.1 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial NA NA anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050) mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234) ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543) breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) Carglumic Acid(DB06775) AATGGCAAGCGTTCAGCTTTC 0.343 NA G||| 501 0.10004 0.0015 0.1988 5008 , , NA 18632 0.1974 NA 0.008 False NA ,,, NA NA NA 2504 0.1575 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF154830 CCDS2393.1, CCDS46505.1, CCDS46506.1 2p 2014-09-17 2010-05-11 ENSG00000021826 ENSG00000021826 1373 6.3.4.16 2323 protein-coding gene gene with protein product 608307 carbamoyl-phosphate synthetase 1, mitochondrial NA Standard NM_001122633 NA Approved uc002vee.4 P31327 OTTHUMG00000132994 ENST00000430249.2:c.4-467G>A chr2.hg19:g.211420976G>A NA B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5 hg19 CCDS46505.1 0.02 10.901159 AGCxTTC COVERED NOVEL CPS1-011 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000389617.1 4 12.038701 KEEP 0 0 0 40 1394 GG 1 1 0 + 18 60 647 0 0 44.36223 260 60 8687 381 ENST00000430249.2 0.064748 1 CPS1 1373 __UNKNOWN__ __UNKNOWN__ 2 211515058 211515058 __UNKNOWN__ Intron SNP A A T rs3213784 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:211515058A>T ENST00000233072.5 + 28 3600 CPS1_ENST00000451903.2_Intron|CPS1_ENST00000430249.2_Intron NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial NA NA anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050) mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234) ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543) breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) Carglumic Acid(DB06775) CATAAACCTGACCTGCTTTTT 0.428 NA A||| 2117 0.422724 0.2458 0.5231 5008 , , NA 17763 0.5347 NA 0.4274 False NA ,,, NA NA NA 2504 0.4703 NA NA NA NA 0 A ,, 1217,3189 422.3+/-339.7 169,879,1155 115 114 114 ,, 5.7 0 2 dbSNP_106 114 3433,5167 505.8+/-376.5 688,2057,1555 no intron,intron,intron CPS1 NM_001122633.2,NM_001122634.2,NM_001875.4 ,, 857,2936,2710 TT,TA,AA 39.9186,27.6214,35.7527 ,, ,, 211515058 4650,8356 2203 4300 6503 SO:0001627 intron_variant AF154830 CCDS2393.1, CCDS46505.1, CCDS46506.1 2p 2014-09-17 2010-05-11 ENSG00000021826 ENSG00000021826 1373 6.3.4.16 2323 protein-coding gene gene with protein product 608307 carbamoyl-phosphate synthetase 1, mitochondrial NA Standard NM_001122633 NA Approved uc002vee.4 P31327 OTTHUMG00000132994 ENST00000233072.5:c.3405-29A>T chr2.hg19:g.211515058A>T NA B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5 hg19 CCDS2393.1 0.02 8.627155 CTGxCCT COVERED NOVEL CPS1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256569.5 1 11.734868 KEEP 0 0 0 39 1239 AA 1 1 0 + 9 60 319 0 0 20.126795 198 60 7051 301 ENST00000233072.5 0.043478 1 AC079610.2 0 __UNKNOWN__ __UNKNOWN__ 2 214142631 214142631 __UNKNOWN__ lincRNA SNP G G C rs13000409 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:214142631G>C ENST00000360083.3 - 0 371 NA NA NA cagggcatgtgagaggtcttc 0.488 NA C||| 2460 0.491214 0.652 0.536 5008 , , NA 20602 0.2996 NA 0.6233 False NA ,,, NA NA NA 2504 0.3037 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000360083.3: chr2.hg19:g.214142631G>C NA hg19 0.02 2.220937 TGTxAGA COVERED NOVEL AC079610.2-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000337357.1 2 10.533811 KEEP 0 0 0 35 1229 GG 0.999999 0.998695 0 - 4 60 157 0 0 10.804896 72 60 2724 155 ENST00000360083.3 0.052632 0.998696 SPAG16 79582 __UNKNOWN__ __UNKNOWN__ 2 214973011 214973011 __UNKNOWN__ Intron SNP G G A rs16851495 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:214973011G>A ENST00000331683.5 + 14 1688 SPAG16_ENST00000374309.3_Intron NM_024532.4 NP_078808.3 Q8N0X2 SPG16_HUMAN sperm associated antigen 16 NA NA cilium assembly (GO:0042384)|spermatogenesis (GO:0007283) axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634) endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 56 Renal(323;0.00461) UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599) CCAGTAAACTGTTTTTAATGC 0.328 NA G||| 644 0.128594 0.1203 0.0735 5008 , , NA 14659 0.2688 NA 0.0875 False NA ,,, NA NA NA 2504 0.0767 NA NA NA NA 0 G 485,3921 227.8+/-242.9 28,429,1746 101 93 96 -11.4 0 2 dbSNP_123 96 544,8056 149.7+/-204.7 20,504,3776 no intron SPAG16 NM_024532.3 48,933,5522 AA,AG,GG 6.3256,11.0077,7.9117 214973011 1029,11977 2203 4300 6503 SO:0001627 intron_variant AF310672 CCDS2396.1, CCDS46508.1 2q34 2013-05-21 ENSG00000144451 ENSG00000144451 79582 WD repeat domain containing 23225 protein-coding gene gene with protein product 612173 NA 12391165, 11867345 Standard NM_024532 NM_024532 NA Approved PF20, FLJ22724, DKFZp666P1710, WDR29 uc002veq.4 Q8N0X2 OTTHUMG00000133015 ENST00000331683.5:c.1593+26G>A chr2.hg19:g.214973011G>A NA Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601 hg19 CCDS2396.1 0.02 6.235915 ACTxTTT COVERED NOVEL SPAG16-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256601.2 1 4.815912 KEEP 0 0 0 16 586 GG 0.997832 0.997832 0 + 10 60 369 0 0 25.352014 153 60 5656 206 ENST00000331683.5 0.06135 1 SPAG16 79582 __UNKNOWN__ __UNKNOWN__ 2 215013820 215013820 __UNKNOWN__ Intron SNP T T C rs113600080 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:215013820T>C ENST00000331683.5 + 15 1688 SPAG16_ENST00000374309.3_Intron NM_024532.4 NP_078808.3 Q8N0X2 SPG16_HUMAN sperm associated antigen 16 NA NA cilium assembly (GO:0042384)|spermatogenesis (GO:0007283) axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634) endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 56 Renal(323;0.00461) UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599) tatatatatatacatacatac 0.313 NA T||| 286 0.0571086 0.0666 0.0548 5008 , , NA 8611 0.1379 NA 0.006 False NA ,,, NA NA NA 2504 0.0153 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF310672 CCDS2396.1, CCDS46508.1 2q34 2013-05-21 ENSG00000144451 ENSG00000144451 79582 WD repeat domain containing 23225 protein-coding gene gene with protein product 612173 NA 12391165, 11867345 Standard NM_024532 NM_024532 NA Approved PF20, FLJ22724, DKFZp666P1710, WDR29 uc002veq.4 Q8N0X2 OTTHUMG00000133015 ENST00000331683.5:c.1594-44T>C chr2.hg19:g.215013820T>C NA Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601 hg19 CCDS2396.1 0.02 2.061636 ATAxACA COVERED NOVEL SPAG16-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256601.2 0 2.406504 KEEP 0 0 0 8 231 TT 0.99257 0.980603 0 + 4 60 146 0 0 10.220178 53 70 1846 72 ENST00000331683.5 0.070175 0.987943 BARD1 580 __UNKNOWN__ __UNKNOWN__ 2 215590609 215590609 __UNKNOWN__ 3'UTR SNP G G C rs1048171 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:215590609G>C ENST00000260947.4 - 0 5259 NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1 NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1 Q99728 BARD1_HUMAN BRCA1 associated RING domain 1 NA NA cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA 3'-end processing (GO:0031441)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein catabolic process (GO:0045732)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of phosphorylation (GO:0042325)|tissue homeostasis (GO:0001894) BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151) kinase binding (GO:0019900)|ligase activity (GO:0016874)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1) 35 Renal(323;0.0243) Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) TATGATTAATGCATTTTCCAC 0.408 NA Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome G||| 1983 0.395966 0.2073 0.4424 5008 , , NA 16725 0.6022 NA 0.3847 False NA ,,, NA NA NA 2504 0.4172 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Familial Cancer Database Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease CCDS2397.1, CCDS74645.1, CCDS74646.1, CCDS74647.1, CCDS74648.1 2q34-q35 2013-01-10 ENSG00000138376 ENSG00000138376 580 Ankyrin repeat domain containing 952 protein-coding gene gene with protein product 601593 NA 8944023, 9425226, 15159397 Standard NM_000465 NM_001282548 NA Approved uc002veu.2 Q99728 OTTHUMG00000133016 ENST00000260947.4:c.*2791C>G chr2.hg19:g.215590609G>C NA F6MDH7|F6MDH8|F6MDH9|O43574|Q53SS5 hg19 CCDS2397.1 0.02 7.078569 AATxCAT COVERED NOVEL BARD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256602.1 2 12.039516 KEEP 0 0 0 40 1439 GG 1 1 0 - 14 60 518 0 0 36.714874 178 60 6730 276 ENST00000260947.4 0.072917 1 ATIC 471 __UNKNOWN__ __UNKNOWN__ 2 216191533 216191533 __UNKNOWN__ Intron SNP C C T rs78562722 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:216191533C>T ENST00000236959.9 + 7 857 ATIC_ENST00000435675.1_Intron|ATIC_ENST00000540518.1_Intron NM_004044.6 NP_004035.2 P31939 PUR9_HUMAN 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase NA NA 'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|dihydrofolate metabolic process (GO:0046452)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739) IMP cyclohydrolase activity (GO:0003937)|phosphoribosylaminoimidazolecarboxamide formyltransferase activity (GO:0004643)|protein homodimerization activity (GO:0042803) ATIC/ALK(24) large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 8 Renal(323;0.229) Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097) Methotrexate(DB00563)|Pemetrexed(DB00642)|Tetrahydrofolic acid(DB00116) ACAAAACTTACGCTTTTTGTA 0.433 NA T ALK ALCL C||| 1227 0.245008 0.1536 0.2392 5008 , , NA 21442 0.4831 NA 0.1958 False NA ,,, NA NA NA 2504 0.1779 NA NA NA Dom yes 2 2q35 471 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase L 0 C 655,3751 278.4+/-274.2 54,547,1602 126 117 120 -3 0 2 dbSNP_131 120 1748,6852 316.8+/-312.9 172,1404,2724 no intron ATIC NM_004044.6 226,1951,4326 TT,TC,CC 20.3256,14.8661,18.4761 216191533 2403,10603 2203 4300 6503 SO:0001627 intron_variant CCDS2398.1 2q35 2010-04-27 ENSG00000138363 ENSG00000138363 471 2.1.2.3, 3.5.4.10 794 protein-coding gene gene with protein product phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase 601731 NA 8567683, 9378707 Standard NM_004044 NM_004044 NA Approved PURH, AICARFT, IMPCHASE uc002vex.4 P31939 OTTHUMG00000133023 ENST00000236959.9:c.532-12C>T chr2.hg19:g.216191533C>T NA A8K202|E9PBU3|Q13856|Q53S28 hg19 CCDS2398.1 0.02 2.299673 TTAxGCT COVERED NOVEL ATIC-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256610.1 0 2.70885 KEEP 0 0 0 9 320 CC 0.99254 0.98766 0 + 4 60 154 0 0 10.729501 63 60 2283 78 ENST00000236959.9 0.059701 0.995084 FN1 2335 __UNKNOWN__ __UNKNOWN__ 2 216226066 216226066 __UNKNOWN__ 3'UTR SNP A A T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:216226066A>T ENST00000354785.4 - 0 8015 FN1_ENST00000346544.3_3'UTR|FN1_ENST00000357009.2_3'UTR|FN1_ENST00000345488.5_3'UTR|FN1_ENST00000357867.4_3'UTR|FN1_ENST00000446046.1_3'UTR|FN1_ENST00000443816.1_3'UTR|FN1_ENST00000356005.4_3'UTR|FN1_ENST00000323926.6_3'UTR|FN1_ENST00000336916.4_3'UTR|FN1_ENST00000432072.2_3'UTR|FN1_ENST00000359671.1_3'UTR|FN1_ENST00000421182.1_3'UTR P02751 FINC_HUMAN fibronectin 1 NA NA acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446) apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093) collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020) FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Ocriplasmin(DB08888) CAGAACAGGCAATGTGCAGCC 0.448 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1 2q34 2014-01-30 ENSG00000115414 ENSG00000115414 2335 Fibronectin type III domain containing, Endogenous ligands 3778 protein-coding gene gene with protein product migration-stimulating factor, cold-insoluble globulin 135600 NA 2992939, 3003095 Standard NM_212476 NM_054034 NA Approved MSF, CIG, LETS, GFND2, FINC uc002vfa.3 P02751 OTTHUMG00000133054 ENST00000354785.4:c.*212T>A chr2.hg19:g.216226066A>T NA B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2 hg19 CCDS42814.1 0.02 4.593975 GGCxATG COVERED NOVEL FN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256667.2 1 4.512608 KEEP 0 0 0 15 456 AA 0.99649 0.99649 0 - 9 60 332 0 0 22.821955 137 60 4954 176 ENST00000354785.4 0.061644 1 FN1 2335 __UNKNOWN__ __UNKNOWN__ 2 216242917 216242917 __UNKNOWN__ Silent SNP T T A rs1132741 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:216242917T>A ENST00000354785.4 - 35 6060 c.5691A>T c.(5689-5691)ggA>ggT p.G1897G FN1_ENST00000346544.3_Silent_p.G1806G|FN1_ENST00000357009.2_Silent_p.G1806G|FN1_ENST00000345488.5_Silent_p.G1806G|FN1_ENST00000357867.4_Silent_p.G1716G|FN1_ENST00000446046.1_Silent_p.G1806G|FN1_ENST00000443816.1_Silent_p.G1716G|FN1_ENST00000356005.4_Silent_p.G1716G|FN1_ENST00000323926.6_Silent_p.G1897G|FN1_ENST00000336916.4_Silent_p.G1806G|FN1_ENST00000432072.2_Silent_p.G1807G|FN1_ENST00000359671.1_Silent_p.G1806G|FN1_ENST00000421182.1_Silent_p.G1716G P02751 FINC_HUMAN fibronectin 1 1895 Binds to FBLN1.|Fibronectin type-III 14. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Heparin-binding 2. NA acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446) apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093) collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020) p.G1806G(1) FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Ocriplasmin(DB08888) TGGTGACAACTCCCTGAGCTG 0.418 NA T||| 1626 0.324681 0.0598 0.3919 5008 , , NA 15294 0.7659 NA 0.2505 False NA ,,, NA NA NA 2504 0.2566 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) T ,,,, 400,4006 200.1+/-223.5 10,380,1813 146 125 132 5418,5148,5148,5418,5691 -4.2 0.9 2 dbSNP_86 132 2070,6530 360.9+/-332.1 251,1568,2481 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous FN1 NM_002026.2,NM_212474.1,NM_212476.1,NM_212478.1,NM_212482.1 ,,,, 261,1948,4294 AA,AT,TT 24.0698,9.0785,18.9912 ,,,, 1806/2356,1716/2177,1716/2297,1806/2331,1897/2478 216242917 2470,10536 2203 4300 6503 SO:0001819 synonymous_variant CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1 2q34 2014-01-30 ENSG00000115414 ENSG00000115414 2335 Fibronectin type III domain containing, Endogenous ligands 3778 protein-coding gene gene with protein product migration-stimulating factor, cold-insoluble globulin 135600 NA 2992939, 3003095 Standard NM_212476 NM_054034 NA Approved MSF, CIG, LETS, GFND2, FINC uc002vfa.3 P02751 OTTHUMG00000133054 ENST00000354785.4:c.5691A>T chr2.hg19:g.216242917T>A NA B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2 hg19 CCDS42814.1 0.02 6.918546 AACxCCC COVERED NOVEL FN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256667.2 0 9.929402 KEEP 0 0 0 33 1037 TT 0.999998 0.999998 0 - 16 60 601 0 0 44.452973 160 60 5955 249 ENST00000354785.4 0.090909 1 FN1 2335 __UNKNOWN__ __UNKNOWN__ 2 216283958 216283958 __UNKNOWN__ Intron SNP T T A rs3796123 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:216283958T>A ENST00000354785.4 - 12 2189 FN1_ENST00000346544.3_Intron|FN1_ENST00000357009.2_Intron|FN1_ENST00000345488.5_Intron|FN1_ENST00000357867.4_Intron|FN1_ENST00000446046.1_Intron|FN1_ENST00000443816.1_Intron|FN1_ENST00000426059.1_Intron|FN1_ENST00000356005.4_Intron|FN1_ENST00000323926.6_Intron|FN1_ENST00000336916.4_Intron|FN1_ENST00000432072.2_Intron|FN1_ENST00000359671.1_Intron|FN1_ENST00000421182.1_Intron P02751 FINC_HUMAN fibronectin 1 NA NA acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446) apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093) collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020) FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Ocriplasmin(DB08888) GTAATAGAGCTACTTACTTGG 0.478 NA T||| 2061 0.411542 0.2224 0.4741 5008 , , NA 16328 0.9246 NA 0.2634 False NA ,,, NA NA NA 2504 0.2464 NA NA NA NA 0 T ,,,,, 1018,3388 377.8+/-322.6 115,788,1300 93 84 87 ,,,,, 3.3 0 2 dbSNP_107 87 2044,6556 357.6+/-330.8 232,1580,2488 no intron,intron,intron,intron,intron,intron FN1 NM_002026.2,NM_054034.2,NM_212474.1,NM_212476.1,NM_212478.1,NM_212482.1 ,,,,, 347,2368,3788 AA,AT,TT 23.7674,23.1049,23.543 ,,,,, ,,,,, 216283958 3062,9944 2203 4300 6503 SO:0001627 intron_variant CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1 2q34 2014-01-30 ENSG00000115414 ENSG00000115414 2335 Fibronectin type III domain containing, Endogenous ligands 3778 protein-coding gene gene with protein product migration-stimulating factor, cold-insoluble globulin 135600 NA 2992939, 3003095 Standard NM_212476 NM_054034 NA Approved MSF, CIG, LETS, GFND2, FINC uc002vfa.3 P02751 OTTHUMG00000133054 ENST00000354785.4:c.1819+6A>T chr2.hg19:g.216283958T>A NA B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2 hg19 CCDS42814.1 0.02 11.551957 AGCxACT COVERED NOVEL FN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256667.2 1 10.697172 KEEP 0 2 58 56 1756 TT 1 1 0 - 18 60 669 0 0 46.746896 253 60 9308 414 ENST00000354785.4 0.066421 1 FN1 2335 __UNKNOWN__ __UNKNOWN__ 2 216299550 216299550 __UNKNOWN__ Intron SNP G G A rs202099802|rs397741588|rs34732447|rs2577290 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:216299550G>A ENST00000354785.4 - 2 518 FN1_ENST00000346544.3_Intron|FN1_ENST00000357009.2_Intron|FN1_ENST00000345488.5_Intron|FN1_ENST00000357867.4_Intron|FN1_ENST00000446046.1_Intron|FN1_ENST00000443816.1_Intron|FN1_ENST00000426059.1_Intron|FN1_ENST00000356005.4_Intron|FN1_ENST00000323926.6_Intron|FN1_ENST00000336916.4_Intron|FN1_ENST00000432072.2_Intron|FN1_ENST00000359671.1_Intron|FN1_ENST00000421182.1_Intron P02751 FINC_HUMAN fibronectin 1 NA NA acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446) apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093) collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020) FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Ocriplasmin(DB08888) ACAACCGGCTGCAAATAATTG 0.363 NA G||| 2115 0.422324 0.2738 0.4769 5008 , , NA 17717 0.9246 NA 0.2584 False NA ,,, NA NA NA 2504 0.2352 NA NA NA NA 0 G ,,,,, 744,3662 167,410,1626 132 124 127 ,,,,, 4.2 0.9 2 dbSNP_100 127 1136,7464 218,700,3382 no intron,intron,intron,intron,intron,intron FN1 NM_002026.2,NM_054034.2,NM_212474.1,NM_212476.1,NM_212478.1,NM_212482.1 ,,,,, 385,1110,5008 AA,AG,GG 13.2093,16.8861,14.4549 ,,,,, ,,,,, 216299550 1880,11126 2203 4300 6503 SO:0001627 intron_variant CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1 2q34 2014-01-30 ENSG00000115414 ENSG00000115414 2335 Fibronectin type III domain containing, Endogenous ligands 3778 protein-coding gene gene with protein product migration-stimulating factor, cold-insoluble globulin 135600 NA 2992939, 3003095 Standard NM_212476 NM_054034 NA Approved MSF, CIG, LETS, GFND2, FINC uc002vfa.3 P02751 OTTHUMG00000133054 ENST00000354785.4:c.149-3C>T chr2.hg19:g.216299550G>A NA B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2 hg19 CCDS42814.1 0.02 12.961245 GCTxCAA COVERED NOVEL FN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256667.2 2 24.65043 KEEP 0 2 60 103 3726 GG 1 1 0 - 15 60 540 0 0 35.262431 287 60 10738 490 ENST00000354785.4 0.049669 1 FN1 2335 __UNKNOWN__ __UNKNOWN__ 2 216299551 216299551 __UNKNOWN__ Intron SNP C C A rs202099802|rs397741588|rs34732447|rs2692234 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:216299551C>A ENST00000354785.4 - 2 518 FN1_ENST00000346544.3_Intron|FN1_ENST00000357009.2_Intron|FN1_ENST00000345488.5_Intron|FN1_ENST00000357867.4_Intron|FN1_ENST00000446046.1_Intron|FN1_ENST00000443816.1_Intron|FN1_ENST00000426059.1_Intron|FN1_ENST00000356005.4_Intron|FN1_ENST00000323926.6_Intron|FN1_ENST00000336916.4_Intron|FN1_ENST00000432072.2_Intron|FN1_ENST00000359671.1_Intron|FN1_ENST00000421182.1_Intron P02751 FINC_HUMAN fibronectin 1 NA NA acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446) apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093) collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020) FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Ocriplasmin(DB08888) CAACCGGCTGCAAATAATTGA 0.358 NA C||| 2115 0.422324 0.2738 0.4769 5008 , , NA 18208 0.9246 NA 0.2584 False NA ,,, NA NA NA 2504 0.2352 NA NA NA NA 0 C ,,,,, 674,3732 165,344,1694 131 123 126 ,,,,, -7.2 0 2 dbSNP_100 126 1035,7565 218,599,3483 no intron,intron,intron,intron,intron,intron FN1 NM_002026.2,NM_054034.2,NM_212474.1,NM_212476.1,NM_212478.1,NM_212482.1 ,,,,, 383,943,5177 AA,AC,CC 12.0349,15.2973,13.1401 ,,,,, ,,,,, 216299551 1709,11297 2203 4300 6503 SO:0001627 intron_variant CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1 2q34 2014-01-30 ENSG00000115414 ENSG00000115414 2335 Fibronectin type III domain containing, Endogenous ligands 3778 protein-coding gene gene with protein product migration-stimulating factor, cold-insoluble globulin 135600 NA 2992939, 3003095 Standard NM_212476 NM_054034 NA Approved MSF, CIG, LETS, GFND2, FINC uc002vfa.3 P02751 OTTHUMG00000133054 ENST00000354785.4:c.149-4G>T chr2.hg19:g.216299551C>A NA B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2 hg19 CCDS42814.1 0.02 10.70715 CTGxAAA COVERED NOVEL FN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256667.2 2 24.450134 KEEP 0 2 62 103 3735 CC 1 1 0 - 15 60 545 0 0 35.849352 283 60 10903 487 ENST00000354785.4 0.050336 1 XRCC5 7520 __UNKNOWN__ __UNKNOWN__ 2 217055151 217055151 __UNKNOWN__ Intron SNP T T C rs12466253 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:217055151T>C ENST00000392133.3 + 19 2405 XRCC5_ENST00000392132.2_Intron P13010 XRCC5_HUMAN X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining) NA NA brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to fatty acid (GO:0071398)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|hematopoietic stem cell differentiation (GO:0060218)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of type I interferon production (GO:0032481)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032) cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625) endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Renal(323;0.0328) Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117) GTCTGGGCCGTGGAAATTATC 0.393 NA Non-homologous end-joining T||| 915 0.182708 0.3714 0.1124 5008 , , NA 20977 0.0685 NA 0.1113 False NA ,,, NA NA NA 2504 0.1687 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF039597 CCDS2402.1 2q35 2008-07-31 2008-07-31 ENSG00000079246 ENSG00000079246 7520 12833 protein-coding gene gene with protein product Ku autoantigen, 80kDa 194364 X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kD) NA 9636207, 9214634 Standard NM_021141 NM_021141 NA Approved KU80, KARP-1, Ku86, KUB2 uc002vfy.3 P13010 OTTHUMG00000133059 ENST00000392133.3:c.1944+94T>C chr2.hg19:g.217055151T>C NA A8K3X5|Q0Z7V0|Q4VBQ5|Q53HH7|Q7M4N0|Q9UCQ0|Q9UCQ1 hg19 CCDS2402.1 0.02 5.130487 CCGxGGA COVERED NOVEL XRCC5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256675.3 1 7.221982 KEEP 0 0 0 24 762 TT 0.999909 0.999909 0 + 7 60 229 0 0 13.109395 191 60 6979 244 ENST00000392133.3 0.035354 1 XRCC5 7520 __UNKNOWN__ __UNKNOWN__ 2 217057484 217057484 __UNKNOWN__ Intron SNP T T A rs34964407|rs1805381 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:217057484T>A ENST00000392133.3 + 20 2502 XRCC5_ENST00000392132.2_Intron P13010 XRCC5_HUMAN X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining) NA NA brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to fatty acid (GO:0071398)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|hematopoietic stem cell differentiation (GO:0060218)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of type I interferon production (GO:0032481)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032) cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625) endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Renal(323;0.0328) Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117) CCtttttttttaaaaagtatt 0.259 NA Non-homologous end-joining T||| 866 0.172923 0.3321 0.1196 5008 , , NA 15735 0.0685 NA 0.1123 False NA ,,, NA NA NA 2504 0.1656 NA NA NA NA 0 T 1012,3382 206,600,1391 23 23 23 -1.2 0 2 dbSNP_92 23 724,7866 50,624,3621 no intron XRCC5 NM_021141.3 256,1224,5012 AA,AT,TT 8.4284,23.0314,13.3703 217057484 1736,11248 2197 4295 6492 SO:0001627 intron_variant AF039597 CCDS2402.1 2q35 2008-07-31 2008-07-31 ENSG00000079246 ENSG00000079246 7520 12833 protein-coding gene gene with protein product Ku autoantigen, 80kDa 194364 X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kD) NA 9636207, 9214634 Standard NM_021141 NM_021141 NA Approved KU80, KARP-1, Ku86, KUB2 uc002vfy.3 P13010 OTTHUMG00000133059 ENST00000392133.3:c.2041+26T>A chr2.hg19:g.217057484T>A NA A8K3X5|Q0Z7V0|Q4VBQ5|Q53HH7|Q7M4N0|Q9UCQ0|Q9UCQ1 hg19 CCDS2402.1 0.02 1.581492 TTTxAAA COVERED NOVEL XRCC5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256675.3 0 6.015129 KEEP 0 0 0 20 605 TT 0.999863 0.999744 0 + 4 60 142 0 0 8.966052 88 60 3125 116 ENST00000392133.3 0.043478 0.999881 XRCC5 7520 __UNKNOWN__ __UNKNOWN__ 2 217069876 217069876 __UNKNOWN__ Intron SNP T T G rs2287561 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:217069876T>G ENST00000392133.3 + 23 2645 XRCC5_ENST00000392132.2_Intron P13010 XRCC5_HUMAN X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining) NA NA brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to fatty acid (GO:0071398)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|hematopoietic stem cell differentiation (GO:0060218)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of type I interferon production (GO:0032481)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032) cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625) endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Renal(323;0.0328) Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117) GAAATTGGCCTGATTCCTTTC 0.443 NA Non-homologous end-joining T||| 705 0.140775 0.2186 0.1009 5008 , , NA 21274 0.0685 NA 0.1113 False NA ,,, NA NA NA 2504 0.1687 NA NA NA NA 0 T 910,3496 350.5+/-310.9 96,718,1389 283 241 255 4.1 0 2 dbSNP_100 255 1040,7560 221.5+/-258.9 51,938,3311 no intron XRCC5 NM_021141.3 147,1656,4700 GG,GT,TT 12.093,20.6537,14.9931 217069876 1950,11056 2203 4300 6503 SO:0001627 intron_variant AF039597 CCDS2402.1 2q35 2008-07-31 2008-07-31 ENSG00000079246 ENSG00000079246 7520 12833 protein-coding gene gene with protein product Ku autoantigen, 80kDa 194364 X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kD) NA 9636207, 9214634 Standard NM_021141 NM_021141 NA Approved KU80, KARP-1, Ku86, KUB2 uc002vfy.3 P13010 OTTHUMG00000133059 ENST00000392133.3:c.2185-35T>G chr2.hg19:g.217069876T>G NA A8K3X5|Q0Z7V0|Q4VBQ5|Q53HH7|Q7M4N0|Q9UCQ0|Q9UCQ1 hg19 CCDS2402.1 0.02 9.610909 GCCxGAT COVERED NOVEL XRCC5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256675.3 3 16.843318 KEEP 0 0 0 56 1725 TT 1 1 0 + 19 60 641 0 0 42.428895 281 60 10440 425 ENST00000392133.3 0.063333 1 XRCC5 7520 __UNKNOWN__ __UNKNOWN__ 2 217070376 217070376 __UNKNOWN__ 3'UTR SNP A A G rs1051685 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:217070376A>G ENST00000392133.3 + 0 3111 XRCC5_ENST00000392132.2_3'UTR P13010 XRCC5_HUMAN X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining) NA NA brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to fatty acid (GO:0071398)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|hematopoietic stem cell differentiation (GO:0060218)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of type I interferon production (GO:0032481)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032) cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625) endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Renal(323;0.0328) Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117) AGCTGTCACAACTTGTGTTGA 0.463 NA Non-homologous end-joining a||| 863 0.172324 0.3336 0.1081 5008 , , NA 20208 0.0685 NA 0.1113 False NA ,,, NA NA NA 2504 0.1697 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF039597 CCDS2402.1 2q35 2008-07-31 2008-07-31 ENSG00000079246 ENSG00000079246 7520 12833 protein-coding gene gene with protein product Ku autoantigen, 80kDa 194364 X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kD) NA 9636207, 9214634 Standard NM_021141 NM_021141 NA Approved KU80, KARP-1, Ku86, KUB2 uc002vfy.3 P13010 OTTHUMG00000133059 ENST00000392133.3:c.*451A>G chr2.hg19:g.217070376A>G NA A8K3X5|Q0Z7V0|Q4VBQ5|Q53HH7|Q7M4N0|Q9UCQ0|Q9UCQ1 hg19 CCDS2402.1 0.02 9.537743 ACAxCTT COVERED NOVEL XRCC5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256675.3 1 14.744114 KEEP 0 0 0 49 1555 AA 1 1 0 + 8 60 312 0 0 20.128434 210 60 7523 323 ENST00000392133.3 0.036697 1 IGFBP2 3485 __UNKNOWN__ __UNKNOWN__ 2 217525189 217525189 __UNKNOWN__ Intron SNP C C T rs2072543 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:217525189C>T ENST00000456764.1 + 2 129 IGFBP2_ENST00000233809.4_Intron P18065 IBP2_HUMAN insulin-like growth factor binding protein 2, 36kDa NA NA aging (GO:0007568)|cellular protein metabolic process (GO:0044267)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|positive regulation of activated T cell proliferation (GO:0042104)|regulation of cell growth (GO:0001558)|regulation of insulin-like growth factor receptor signaling pathway (GO:0043567)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165) apical plasma membrane (GO:0016324)|cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995) endometrium(2)|large_intestine(1)|lung(2) 5 Renal(323;0.0458) Epithelial(149;2.9e-06)|all cancers(144;0.000223)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00968) CATCTCCACCCTCATCATCAT 0.537 NA C||| 136 0.0271565 0.0038 0.0331 5008 , , NA 19973 0.0734 NA 0.0 False NA ,,, NA NA NA 2504 0.0348 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS42815.1 2q35 2014-09-16 2002-08-29 ENSG00000115457 ENSG00000115457 3485 5471 protein-coding gene gene with protein product 146731 insulin-like growth factor binding protein 2 (36kD) IBP2 NA 1697583 Standard NM_000597 NM_000597 NA Approved uc021vwn.1 P18065 OTTHUMG00000155341 ENST00000456764.1:c.11-91C>T chr2.hg19:g.217525189C>T NA Q14619|Q9UCL3 hg19 0.02 4.317571 ACCxTCA COVERED NOVEL IGFBP2-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000339543.1 1 9.931165 KEEP 0 0 0 33 1110 CC 0.999998 0.999998 0 + 6 60 227 0 0 14.96613 126 60 4533 182 ENST00000456764.1 0.045455 1 IGFBP5 3488 __UNKNOWN__ __UNKNOWN__ 2 217537368 217537368 __UNKNOWN__ 3'UTR SNP A A G rs1052946 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:217537368A>G ENST00000233813.4 - 0 5674 NM_000599.3 NP_000590.1 P24593 IBP5_HUMAN insulin-like growth factor binding protein 5 NA NA cellular protein metabolic process (GO:0044267)|cellular response to cAMP (GO:0071320)|cellular response to organic cyclic compound (GO:0071407)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hair follicle morphogenesis (GO:0031069)|intracellular signal transduction (GO:0035556)|mammary gland involution (GO:0060056)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|striated muscle cell differentiation (GO:0051146)|type B pancreatic cell proliferation (GO:0044342) extracellular region (GO:0005576)|insulin-like growth factor binding protein complex (GO:0016942) insulin-like growth factor I binding (GO:0031994) endometrium(1)|large_intestine(3)|lung(1) 5 Renal(323;0.0822) Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CAGTGGCGGTAGAGAGGAGAC 0.597 NA G||| 659 0.131589 0.326 0.0692 5008 , , NA 13603 0.0685 NA 0.0318 False NA ,,, NA NA NA 2504 0.0808 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS2405.1 2q35 2014-09-16 ENSG00000115461 ENSG00000115461 3488 5474 protein-coding gene gene with protein product 146734 NA 7511611 Standard NM_000599 NM_000599 NA Approved uc002vgj.4 P24593 OTTHUMG00000133058 ENST00000233813.4:c.*4106T>C chr2.hg19:g.217537368A>G NA Q5U0A3 hg19 CCDS2405.1 0.02 14.344262 GGTxGAG COVERED NOVEL IGFBP5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256674.2 2 41.520315 KEEP 0 0 0 138 4202 AA 1 1 0 - 18 60 608 0 0 39.332625 322 60 11488 602 ENST00000233813.4 0.052941 1 IGFBP5 3488 __UNKNOWN__ __UNKNOWN__ 2 217537416 217537416 __UNKNOWN__ 3'UTR SNP C C T rs13396711 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:217537416C>T ENST00000233813.4 - 0 5626 NM_000599.3 NP_000590.1 P24593 IBP5_HUMAN insulin-like growth factor binding protein 5 NA NA cellular protein metabolic process (GO:0044267)|cellular response to cAMP (GO:0071320)|cellular response to organic cyclic compound (GO:0071407)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hair follicle morphogenesis (GO:0031069)|intracellular signal transduction (GO:0035556)|mammary gland involution (GO:0060056)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|striated muscle cell differentiation (GO:0051146)|type B pancreatic cell proliferation (GO:0044342) extracellular region (GO:0005576)|insulin-like growth factor binding protein complex (GO:0016942) insulin-like growth factor I binding (GO:0031994) endometrium(1)|large_intestine(3)|lung(1) 5 Renal(323;0.0822) Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GTGGGGTGAGCGGGCACAGGG 0.607 NA C||| 424 0.0846645 0.1573 0.0548 5008 , , NA 12896 0.0685 NA 0.0298 False NA ,,, NA NA NA 2504 0.0808 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS2405.1 2q35 2014-09-16 ENSG00000115461 ENSG00000115461 3488 5474 protein-coding gene gene with protein product 146734 NA 7511611 Standard NM_000599 NM_000599 NA Approved uc002vgj.4 P24593 OTTHUMG00000133058 ENST00000233813.4:c.*4058G>A chr2.hg19:g.217537416C>T NA Q5U0A3 hg19 CCDS2405.1 0.02 8.636789 GAGxGGG COVERED NOVEL IGFBP5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256674.2 1 22.234611 KEEP 0 0 0 74 2431 CC 1 1 0 - 8 60 287 0 0 17.46606 221 60 7354 342 ENST00000233813.4 0.034934 1 IGFBP5 3488 __UNKNOWN__ __UNKNOWN__ 2 217537685 217537685 __UNKNOWN__ 3'UTR SNP G G A rs2241200 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:217537685G>A ENST00000233813.4 - 0 5357 NM_000599.3 NP_000590.1 P24593 IBP5_HUMAN insulin-like growth factor binding protein 5 NA NA cellular protein metabolic process (GO:0044267)|cellular response to cAMP (GO:0071320)|cellular response to organic cyclic compound (GO:0071407)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hair follicle morphogenesis (GO:0031069)|intracellular signal transduction (GO:0035556)|mammary gland involution (GO:0060056)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|striated muscle cell differentiation (GO:0051146)|type B pancreatic cell proliferation (GO:0044342) extracellular region (GO:0005576)|insulin-like growth factor binding protein complex (GO:0016942) insulin-like growth factor I binding (GO:0031994) endometrium(1)|large_intestine(3)|lung(1) 5 Renal(323;0.0822) Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TGAAACCCCTGTCCCTCGTCC 0.468 NA G||| 143 0.0285543 0.0166 0.036 5008 , , NA 17804 0.0645 NA 0.0 False NA ,,, NA NA NA 2504 0.0317 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS2405.1 2q35 2014-09-16 ENSG00000115461 ENSG00000115461 3488 5474 protein-coding gene gene with protein product 146734 NA 7511611 Standard NM_000599 NM_000599 NA Approved uc002vgj.4 P24593 OTTHUMG00000133058 ENST00000233813.4:c.*3789C>T chr2.hg19:g.217537685G>A NA Q5U0A3 hg19 CCDS2405.1 0.02 5.56374 CCTxTCC COVERED NOVEL IGFBP5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256674.2 2 17.756981 KEEP 0 0 0 59 2081 GG 1 1 0 - 9 60 291 0 0 17.603643 185 60 6996 316 ENST00000233813.4 0.046392 1 IGFBP5 3488 __UNKNOWN__ __UNKNOWN__ 2 217537699 217537699 __UNKNOWN__ 3'UTR SNP C C A rs76374536 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:217537699C>A ENST00000233813.4 - 0 5343 NM_000599.3 NP_000590.1 P24593 IBP5_HUMAN insulin-like growth factor binding protein 5 NA NA cellular protein metabolic process (GO:0044267)|cellular response to cAMP (GO:0071320)|cellular response to organic cyclic compound (GO:0071407)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hair follicle morphogenesis (GO:0031069)|intracellular signal transduction (GO:0035556)|mammary gland involution (GO:0060056)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|striated muscle cell differentiation (GO:0051146)|type B pancreatic cell proliferation (GO:0044342) extracellular region (GO:0005576)|insulin-like growth factor binding protein complex (GO:0016942) insulin-like growth factor I binding (GO:0031994) endometrium(1)|large_intestine(3)|lung(1) 5 Renal(323;0.0822) Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CTCGTCCCTCCTCCACTTTGC 0.493 NA C||| 143 0.0285543 0.0166 0.036 5008 , , NA 17466 0.0645 NA 0.0 False NA ,,, NA NA NA 2504 0.0317 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS2405.1 2q35 2014-09-16 ENSG00000115461 ENSG00000115461 3488 5474 protein-coding gene gene with protein product 146734 NA 7511611 Standard NM_000599 NM_000599 NA Approved uc002vgj.4 P24593 OTTHUMG00000133058 ENST00000233813.4:c.*3775G>T chr2.hg19:g.217537699C>A NA Q5U0A3 hg19 CCDS2405.1 0.02 8.28065 CTCxTCC COVERED NOVEL IGFBP5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256674.2 2 19.262085 KEEP 0 0 0 64 2273 CC 1 1 0 - 11 60 393 0 0 26.007584 191 60 7156 351 ENST00000233813.4 0.054455 1 IGFBP5 3488 __UNKNOWN__ __UNKNOWN__ 2 217538257 217538257 __UNKNOWN__ 3'UTR SNP T T C rs73989581 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:217538257T>C ENST00000233813.4 - 0 4785 NM_000599.3 NP_000590.1 P24593 IBP5_HUMAN insulin-like growth factor binding protein 5 NA NA cellular protein metabolic process (GO:0044267)|cellular response to cAMP (GO:0071320)|cellular response to organic cyclic compound (GO:0071407)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hair follicle morphogenesis (GO:0031069)|intracellular signal transduction (GO:0035556)|mammary gland involution (GO:0060056)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|striated muscle cell differentiation (GO:0051146)|type B pancreatic cell proliferation (GO:0044342) extracellular region (GO:0005576)|insulin-like growth factor binding protein complex (GO:0016942) insulin-like growth factor I binding (GO:0031994) endometrium(1)|large_intestine(3)|lung(1) 5 Renal(323;0.0822) Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TCCTCACTGGTGGAGTGAGGC 0.587 NA C||| 660 0.131789 0.326 0.0692 5008 , , NA 19239 0.0685 NA 0.0328 False NA ,,, NA NA NA 2504 0.0808 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS2405.1 2q35 2014-09-16 ENSG00000115461 ENSG00000115461 3488 5474 protein-coding gene gene with protein product 146734 NA 7511611 Standard NM_000599 NM_000599 NA Approved uc002vgj.4 P24593 OTTHUMG00000133058 ENST00000233813.4:c.*3217A>G chr2.hg19:g.217538257T>C NA Q5U0A3 hg19 CCDS2405.1 0.02 11.979547 TGGxGGA COVERED NOVEL IGFBP5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256674.2 3 16.542732 KEEP 0 0 0 55 1676 TT 1 1 0 - 16 60 528 0 0 34.631144 253 60 8724 386 ENST00000233813.4 0.05948 1 IGFBP5 3488 __UNKNOWN__ __UNKNOWN__ 2 217538310 217538310 __UNKNOWN__ 3'UTR SNP A A G rs73989582 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:217538310A>G ENST00000233813.4 - 0 4732 NM_000599.3 NP_000590.1 P24593 IBP5_HUMAN insulin-like growth factor binding protein 5 NA NA cellular protein metabolic process (GO:0044267)|cellular response to cAMP (GO:0071320)|cellular response to organic cyclic compound (GO:0071407)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hair follicle morphogenesis (GO:0031069)|intracellular signal transduction (GO:0035556)|mammary gland involution (GO:0060056)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|striated muscle cell differentiation (GO:0051146)|type B pancreatic cell proliferation (GO:0044342) extracellular region (GO:0005576)|insulin-like growth factor binding protein complex (GO:0016942) insulin-like growth factor I binding (GO:0031994) endometrium(1)|large_intestine(3)|lung(1) 5 Renal(323;0.0822) Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGGTGTGAGCATGGGAGTGGG 0.562 NA G||| 660 0.131789 0.326 0.0692 5008 , , NA 19609 0.0685 NA 0.0328 False NA ,,, NA NA NA 2504 0.0808 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS2405.1 2q35 2014-09-16 ENSG00000115461 ENSG00000115461 3488 5474 protein-coding gene gene with protein product 146734 NA 7511611 Standard NM_000599 NM_000599 NA Approved uc002vgj.4 P24593 OTTHUMG00000133058 ENST00000233813.4:c.*3164T>C chr2.hg19:g.217538310A>G NA Q5U0A3 hg19 CCDS2405.1 0.02 11.826217 AGCxTGG COVERED NOVEL IGFBP5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256674.2 2 18.322073 KEEP 0 0 0 61 1832 AA 1 1 0 - 11 60 350 0 0 20.033118 309 60 11143 442 ENST00000233813.4 0.034375 1 IGFBP5 3488 __UNKNOWN__ __UNKNOWN__ 2 217538684 217538684 __UNKNOWN__ 3'UTR SNP G G A rs72547250 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:217538684G>A ENST00000233813.4 - 0 4358 NM_000599.3 NP_000590.1 P24593 IBP5_HUMAN insulin-like growth factor binding protein 5 NA NA cellular protein metabolic process (GO:0044267)|cellular response to cAMP (GO:0071320)|cellular response to organic cyclic compound (GO:0071407)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hair follicle morphogenesis (GO:0031069)|intracellular signal transduction (GO:0035556)|mammary gland involution (GO:0060056)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|striated muscle cell differentiation (GO:0051146)|type B pancreatic cell proliferation (GO:0044342) extracellular region (GO:0005576)|insulin-like growth factor binding protein complex (GO:0016942) insulin-like growth factor I binding (GO:0031994) endometrium(1)|large_intestine(3)|lung(1) 5 Renal(323;0.0822) Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TTTGGAAACCGGAAGAGTCTG 0.577 NA G||| 44 0.00878594 0.0008 0.0346 5008 , , NA 18836 0.0188 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS2405.1 2q35 2014-09-16 ENSG00000115461 ENSG00000115461 3488 5474 protein-coding gene gene with protein product 146734 NA 7511611 Standard NM_000599 NM_000599 NA Approved uc002vgj.4 P24593 OTTHUMG00000133058 ENST00000233813.4:c.*2790C>T chr2.hg19:g.217538684G>A NA Q5U0A3 hg19 CCDS2405.1 0.02 8.749504 ACCxGAA COVERED NOVEL IGFBP5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256674.2 3 29.489747 KEEP 0 0 0 98 3277 GG 1 1 0 - 12 60 438 0 0 29.385538 205 60 7010 385 ENST00000233813.4 0.0553 1 IGFBP5 3488 __UNKNOWN__ __UNKNOWN__ 2 217538816 217538816 __UNKNOWN__ 3'UTR SNP T T C rs2241199 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:217538816T>C ENST00000233813.4 - 0 4226 NM_000599.3 NP_000590.1 P24593 IBP5_HUMAN insulin-like growth factor binding protein 5 NA NA cellular protein metabolic process (GO:0044267)|cellular response to cAMP (GO:0071320)|cellular response to organic cyclic compound (GO:0071407)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hair follicle morphogenesis (GO:0031069)|intracellular signal transduction (GO:0035556)|mammary gland involution (GO:0060056)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|striated muscle cell differentiation (GO:0051146)|type B pancreatic cell proliferation (GO:0044342) extracellular region (GO:0005576)|insulin-like growth factor binding protein complex (GO:0016942) insulin-like growth factor I binding (GO:0031994) endometrium(1)|large_intestine(3)|lung(1) 5 Renal(323;0.0822) Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TCTCAAGAATTAGGTCCAGGC 0.567 NA C||| 410 0.081869 0.1384 0.0605 5008 , , NA 19345 0.0685 NA 0.0368 False NA ,,, NA NA NA 2504 0.0808 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS2405.1 2q35 2014-09-16 ENSG00000115461 ENSG00000115461 3488 5474 protein-coding gene gene with protein product 146734 NA 7511611 Standard NM_000599 NM_000599 NA Approved uc002vgj.4 P24593 OTTHUMG00000133058 ENST00000233813.4:c.*2658A>G chr2.hg19:g.217538816T>C NA Q5U0A3 hg19 CCDS2405.1 0.02 9.828378 AATxAGG COVERED NOVEL IGFBP5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256674.2 3 30.388238 KEEP 0 0 0 101 3080 TT 1 1 0 - 18 60 701 0 0 50.901384 223 60 7914 426 ENST00000233813.4 0.074689 1 IGFBP5 3488 __UNKNOWN__ __UNKNOWN__ 2 217538961 217538961 __UNKNOWN__ 3'UTR SNP T T C rs7564880 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:217538961T>C ENST00000233813.4 - 0 4081 NM_000599.3 NP_000590.1 P24593 IBP5_HUMAN insulin-like growth factor binding protein 5 NA NA cellular protein metabolic process (GO:0044267)|cellular response to cAMP (GO:0071320)|cellular response to organic cyclic compound (GO:0071407)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hair follicle morphogenesis (GO:0031069)|intracellular signal transduction (GO:0035556)|mammary gland involution (GO:0060056)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|striated muscle cell differentiation (GO:0051146)|type B pancreatic cell proliferation (GO:0044342) extracellular region (GO:0005576)|insulin-like growth factor binding protein complex (GO:0016942) insulin-like growth factor I binding (GO:0031994) endometrium(1)|large_intestine(3)|lung(1) 5 Renal(323;0.0822) Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GAAAGAACAGTGACGTGGAAG 0.517 NA T||| 208 0.0415335 0.0643 0.0389 5008 , , NA 20031 0.0645 NA 0.0 False NA ,,, NA NA NA 2504 0.0317 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS2405.1 2q35 2014-09-16 ENSG00000115461 ENSG00000115461 3488 5474 protein-coding gene gene with protein product 146734 NA 7511611 Standard NM_000599 NM_000599 NA Approved uc002vgj.4 P24593 OTTHUMG00000133058 ENST00000233813.4:c.*2513A>G chr2.hg19:g.217538961T>C NA Q5U0A3 hg19 CCDS2405.1 0.02 16.498958 CAGxGAC COVERED NOVEL IGFBP5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256674.2 1 33.396489 KEEP 0 0 0 111 3395 TT 1 1 0 - 18 60 648 0 0 42.481595 337 60 11986 565 ENST00000233813.4 0.050704 1 IGFBP5 3488 __UNKNOWN__ __UNKNOWN__ 2 217539068 217539068 __UNKNOWN__ 3'UTR SNP G G T rs2241198 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:217539068G>T ENST00000233813.4 - 0 3974 NM_000599.3 NP_000590.1 P24593 IBP5_HUMAN insulin-like growth factor binding protein 5 NA NA cellular protein metabolic process (GO:0044267)|cellular response to cAMP (GO:0071320)|cellular response to organic cyclic compound (GO:0071407)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hair follicle morphogenesis (GO:0031069)|intracellular signal transduction (GO:0035556)|mammary gland involution (GO:0060056)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|striated muscle cell differentiation (GO:0051146)|type B pancreatic cell proliferation (GO:0044342) extracellular region (GO:0005576)|insulin-like growth factor binding protein complex (GO:0016942) insulin-like growth factor I binding (GO:0031994) endometrium(1)|large_intestine(3)|lung(1) 5 Renal(323;0.0822) Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GCAGGTCAAGGCCTTGTGGCT 0.557 NA T||| 380 0.0758786 0.1241 0.0533 5008 , , NA 15307 0.0685 NA 0.0308 False NA ,,, NA NA NA 2504 0.0808 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS2405.1 2q35 2014-09-16 ENSG00000115461 ENSG00000115461 3488 5474 protein-coding gene gene with protein product 146734 NA 7511611 Standard NM_000599 NM_000599 NA Approved uc002vgj.4 P24593 OTTHUMG00000133058 ENST00000233813.4:c.*2406C>A chr2.hg19:g.217539068G>T NA Q5U0A3 hg19 CCDS2405.1 0.02 7.504899 AAGxCCT COVERED NOVEL IGFBP5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256674.2 4 25.526749 KEEP 0 0 0 85 2897 GG 1 1 0 - 10 60 315 0 0 18.49083 219 60 7965 406 ENST00000233813.4 0.043668 1 IGFBP5 3488 __UNKNOWN__ __UNKNOWN__ 2 217539261 217539261 __UNKNOWN__ 3'UTR SNP C C T rs2241196 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:217539261C>T ENST00000233813.4 - 0 3781 NM_000599.3 NP_000590.1 P24593 IBP5_HUMAN insulin-like growth factor binding protein 5 NA NA cellular protein metabolic process (GO:0044267)|cellular response to cAMP (GO:0071320)|cellular response to organic cyclic compound (GO:0071407)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hair follicle morphogenesis (GO:0031069)|intracellular signal transduction (GO:0035556)|mammary gland involution (GO:0060056)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|striated muscle cell differentiation (GO:0051146)|type B pancreatic cell proliferation (GO:0044342) extracellular region (GO:0005576)|insulin-like growth factor binding protein complex (GO:0016942) insulin-like growth factor I binding (GO:0031994) endometrium(1)|large_intestine(3)|lung(1) 5 Renal(323;0.0822) Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TTGTTGGAGGCGGTCTCCGCT 0.512 NA c||| 378 0.0754792 0.1248 0.0533 5008 , , NA 21628 0.0655 NA 0.0308 False NA ,,, NA NA NA 2504 0.0808 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS2405.1 2q35 2014-09-16 ENSG00000115461 ENSG00000115461 3488 5474 protein-coding gene gene with protein product 146734 NA 7511611 Standard NM_000599 NM_000599 NA Approved uc002vgj.4 P24593 OTTHUMG00000133058 ENST00000233813.4:c.*2213G>A chr2.hg19:g.217539261C>T NA Q5U0A3 hg19 CCDS2405.1 0.02 7.18575 AGGxGGT COVERED NOVEL IGFBP5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256674.2 0 21.36894 KEEP 0 0 0 71 2478 CC 1 1 0 - 8 60 252 0 0 14.060725 217 60 7546 367 ENST00000233813.4 0.035556 1 IGFBP5 3488 __UNKNOWN__ __UNKNOWN__ 2 217539778 217539778 __UNKNOWN__ 3'UTR SNP T T C rs2241194 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:217539778T>C ENST00000233813.4 - 0 3264 NM_000599.3 NP_000590.1 P24593 IBP5_HUMAN insulin-like growth factor binding protein 5 NA NA cellular protein metabolic process (GO:0044267)|cellular response to cAMP (GO:0071320)|cellular response to organic cyclic compound (GO:0071407)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hair follicle morphogenesis (GO:0031069)|intracellular signal transduction (GO:0035556)|mammary gland involution (GO:0060056)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|striated muscle cell differentiation (GO:0051146)|type B pancreatic cell proliferation (GO:0044342) extracellular region (GO:0005576)|insulin-like growth factor binding protein complex (GO:0016942) insulin-like growth factor I binding (GO:0031994) endometrium(1)|large_intestine(3)|lung(1) 5 Renal(323;0.0822) Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TCTCAAATCCTAGAAAATACA 0.458 NA C||| 446 0.0890575 0.1725 0.0562 5008 , , NA 20679 0.0685 NA 0.0308 False NA ,,, NA NA NA 2504 0.0808 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS2405.1 2q35 2014-09-16 ENSG00000115461 ENSG00000115461 3488 5474 protein-coding gene gene with protein product 146734 NA 7511611 Standard NM_000599 NM_000599 NA Approved uc002vgj.4 P24593 OTTHUMG00000133058 ENST00000233813.4:c.*1696A>G chr2.hg19:g.217539778T>C NA Q5U0A3 hg19 CCDS2405.1 0.02 12.565412 TCCxAGA COVERED NOVEL IGFBP5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256674.2 2 20.759382 KEEP 0 0 0 69 2106 TT 1 1 0 - 14 60 524 0 0 35.454182 245 60 8879 379 ENST00000233813.4 0.054054 1 IGFBP5 3488 __UNKNOWN__ __UNKNOWN__ 2 217540516 217540516 __UNKNOWN__ 3'UTR SNP C C T rs11575208 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:217540516C>T ENST00000233813.4 - 0 2526 NM_000599.3 NP_000590.1 P24593 IBP5_HUMAN insulin-like growth factor binding protein 5 NA NA cellular protein metabolic process (GO:0044267)|cellular response to cAMP (GO:0071320)|cellular response to organic cyclic compound (GO:0071407)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hair follicle morphogenesis (GO:0031069)|intracellular signal transduction (GO:0035556)|mammary gland involution (GO:0060056)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|striated muscle cell differentiation (GO:0051146)|type B pancreatic cell proliferation (GO:0044342) extracellular region (GO:0005576)|insulin-like growth factor binding protein complex (GO:0016942) insulin-like growth factor I binding (GO:0031994) endometrium(1)|large_intestine(3)|lung(1) 5 Renal(323;0.0822) Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ATATGGAGTCCTGTAGATAAA 0.358 NA T||| 658 0.13139 0.3268 0.0692 5008 , , NA 16946 0.0655 NA 0.0328 False NA ,,, NA NA NA 2504 0.0808 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS2405.1 2q35 2014-09-16 ENSG00000115461 ENSG00000115461 3488 5474 protein-coding gene gene with protein product 146734 NA 7511611 Standard NM_000599 NM_000599 NA Approved uc002vgj.4 P24593 OTTHUMG00000133058 ENST00000233813.4:c.*958G>A chr2.hg19:g.217540516C>T NA Q5U0A3 hg19 CCDS2405.1 0.02 8.970722 GTCxTGT COVERED NOVEL IGFBP5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256674.2 0 24.373263 KEEP 0 0 0 81 2803 CC 1 1 0 - 8 60 283 0 0 17.51203 195 60 7190 361 ENST00000233813.4 0.039409 1 IGFBP5 3488 __UNKNOWN__ __UNKNOWN__ 2 217541426 217541426 __UNKNOWN__ 3'UTR SNP C C T rs11575205 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:217541426C>T ENST00000233813.4 - 0 1616 NM_000599.3 NP_000590.1 P24593 IBP5_HUMAN insulin-like growth factor binding protein 5 NA NA cellular protein metabolic process (GO:0044267)|cellular response to cAMP (GO:0071320)|cellular response to organic cyclic compound (GO:0071407)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hair follicle morphogenesis (GO:0031069)|intracellular signal transduction (GO:0035556)|mammary gland involution (GO:0060056)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|striated muscle cell differentiation (GO:0051146)|type B pancreatic cell proliferation (GO:0044342) extracellular region (GO:0005576)|insulin-like growth factor binding protein complex (GO:0016942) insulin-like growth factor I binding (GO:0031994) endometrium(1)|large_intestine(3)|lung(1) 5 Renal(323;0.0822) Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TGGCTGGAGTCGGGGCTGGGG 0.562 NA C||| 473 0.0944489 0.1899 0.0591 5008 , , NA 5574 0.0675 NA 0.0318 False NA ,,, NA NA NA 2504 0.0828 NA NA NA NA 0 C 750,2760 182,386,1187 5 5 5 -8.4 0 2 dbSNP_120 5 367,6411 69,229,3091 no utr-3 IGFBP5 NM_000599.3 251,615,4278 TT,TC,CC 5.4146,21.3675,10.8573 217541426 1117,9171 1755 3389 5144 SO:0001624 3_prime_UTR_variant CCDS2405.1 2q35 2014-09-16 ENSG00000115461 ENSG00000115461 3488 5474 protein-coding gene gene with protein product 146734 NA 7511611 Standard NM_000599 NM_000599 NA Approved uc002vgj.4 P24593 OTTHUMG00000133058 ENST00000233813.4:c.*48G>A chr2.hg19:g.217541426C>T NA Q5U0A3 hg19 CCDS2405.1 0.02 -0.236825 AGTxGGG COVERED NOVEL IGFBP5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256674.2 1 2.708139 KEEP 0 0 0 9 278 CC 0.99254 0.607839 0 - 5 60 165 0 0 13.358988 21 60 702 37 ENST00000233813.4 0.192308 0.612407 IGFBP5 3488 __UNKNOWN__ __UNKNOWN__ 2 217541437 217541437 __UNKNOWN__ 3'UTR SNP G G A rs11575204 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:217541437G>A ENST00000233813.4 - 0 1605 NM_000599.3 NP_000590.1 P24593 IBP5_HUMAN insulin-like growth factor binding protein 5 NA NA cellular protein metabolic process (GO:0044267)|cellular response to cAMP (GO:0071320)|cellular response to organic cyclic compound (GO:0071407)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hair follicle morphogenesis (GO:0031069)|intracellular signal transduction (GO:0035556)|mammary gland involution (GO:0060056)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|striated muscle cell differentiation (GO:0051146)|type B pancreatic cell proliferation (GO:0044342) extracellular region (GO:0005576)|insulin-like growth factor binding protein complex (GO:0016942) insulin-like growth factor I binding (GO:0031994) endometrium(1)|large_intestine(3)|lung(1) 5 Renal(323;0.0822) Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGGGCTGGGGGTGGGAGGGGG 0.552 NA G||| 461 0.0920527 0.1846 0.0562 5008 , , NA 5276 0.0665 NA 0.0308 False NA ,,, NA NA NA 2504 0.0818 NA NA NA NA 0 G 601,3789 39,523,1633 12 10 10 1.6 1 2 dbSNP_120 10 298,8262 14,270,3996 no utr-3 IGFBP5 NM_000599.3 53,793,5629 AA,AG,GG 3.4813,13.6902,6.9421 217541437 899,12051 2195 4280 6475 SO:0001624 3_prime_UTR_variant CCDS2405.1 2q35 2014-09-16 ENSG00000115461 ENSG00000115461 3488 5474 protein-coding gene gene with protein product 146734 NA 7511611 Standard NM_000599 NM_000599 NA Approved uc002vgj.4 P24593 OTTHUMG00000133058 ENST00000233813.4:c.*37C>T chr2.hg19:g.217541437G>A NA Q5U0A3 hg19 CCDS2405.1 0.02 -0.306769 GGGxTGG COVERED NOVEL IGFBP5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256674.2 1 5.416811 KEEP 0 0 0 18 603 GG 0.999859 0.800133 0 - 7 60 222 0 0 18.036967 27 60 934 61 ENST00000233813.4 0.205882 0.800245 AC007557.1 0 __UNKNOWN__ __UNKNOWN__ 2 217736131 217736131 __UNKNOWN__ Intron SNP G G A rs2241191 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:217736131G>A ENST00000456163.1 + 2 209 AC007563.1_ENST00000418591.1_RNA|AC007563.5_ENST00000447289.1_RNA|AC007563.5_ENST00000607591.1_RNA NA NA NA TGAAAAACACGTGGGTTCTTG 0.398 NA A||| 2441 0.48742 0.5666 0.5029 5008 , , NA 22662 0.5615 NA 0.339 False NA ,,, NA NA NA 2504 0.4458 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000456163.1:c.135-48G>A chr2.hg19:g.217736131G>A NA hg19 0.02 6.720598 CACxTGG COVERED NOVEL AC007557.1-001 PUTATIVE basic|appris_principal|exp_conf protein_coding NA protein_coding OTTHUMT00000339424.1 3 3.610491 KEEP 0 0 0 12 374 GG 0.993634 0.993634 0 + 12 60 444 0 0 31.110881 164 60 5228 196 ENST00000456163.1 0.068182 1 DIRC3 729582 __UNKNOWN__ __UNKNOWN__ 2 218577819 218577819 __UNKNOWN__ Missense_Mutation SNP C C G rs1430120 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:218577819C>G ENST00000423123.1 - 4 309 c.207G>C c.(205-207)agG>agC p.R69S disrupted in renal carcinoma 3 NA NA NA cttcacccccCCTCACCTGGG 0.562 NA C||| 619 0.123602 0.0083 0.2378 5008 , , NA 17593 0.2897 NA 0.0915 False NA ,,, NA NA NA 2504 0.0603 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense AK024261 2q35 2013-01-16 ENSG00000231672 ENSG00000231672 729582 17805 other unknown 608262 NA 12939738 Standard NR_026597 NR_026597 NA Approved FLJ14199 uc002vgo.3 OTTHUMG00000155287 ENST00000423123.1:c.207G>C chr2.hg19:g.218577819C>G ENSP00000389455:p.Arg69Ser NA hg19 0.02 7.151041 CCCxCTC COVERED 299 0.13690476190476192 10 0.02032520325203252 70 0.19337016574585636 151 0.263986013986014 68 0.08970976253298153 C 3.753 -0.051095 0.07407 . . ENSG00000231672 ENST00000423123 . . . 4.0 -1.11 0.09840 . . . . . T 0.00012 0.0000 . . . 0.80722 P 0.0 . . . . . . T 0.20706 -1.0267 4 0.87932 D 0 . 5.9662 0.19326 0.0:0.3389:0.4711:0.19 rs1430120 . . . S 69 . ENSP00000389455:R69S R - 3 2 DIRC3 218286064 0.000000 0.05858 0.000000 0.03702 0.002000 0.02628 -0.539000 0.06113 -0.232000 0.09811 -0.254000 0.11334 AGG NOVEL DIRC3-001 PUTATIVE basic|appris_principal|exp_conf protein_coding NA protein_coding OTTHUMT00000339329.1 0 18.79813 KEEP 0 1 39 76 2704 CC 1 1 0 - 9 60 340 1 0 22.700583 175 60 6403 333 ENST00000423123.1 0.048913 1 TNS1 7145 __UNKNOWN__ __UNKNOWN__ 2 218694551 218694551 __UNKNOWN__ Intron SNP A A G rs16858298 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:218694551A>G ENST00000419504.1 - 20 3184 TNS1_ENST00000430930.1_Intron|TNS1_ENST00000171887.4_Intron Q9HBL0 TENS1_HUMAN tensin 1 NA NA cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925) poly(A) RNA binding (GO:0044822) breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) AGGAAGTCACAGCAAATGCTA 0.552 NA A||| 1173 0.234225 0.1362 0.2867 5008 , , NA 20191 0.2688 NA 0.2256 False NA ,,, NA NA NA 2504 0.3027 NA NA NA NA 0 A 638,3768 273.7+/-271.5 45,548,1610 140 134 136 0.5 0 2 dbSNP_123 136 2216,6384 377.2+/-338.5 285,1646,2369 no intron TNS1 NM_022648.4 330,2194,3979 GG,GA,AA 25.7674,14.4803,21.9437 218694551 2854,10152 2203 4300 6503 SO:0001627 intron_variant AB209238 CCDS2407.1 2q35-q36 2014-06-13 2005-05-13 2005-05-13 ENSG00000079308 ENSG00000079308 7145 Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs, SH2 domain containing 11973 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 155 600076 tensin, matrix-remodelling associated 6 TNS, MXRA6 NA Standard NM_022648 NM_022648 NA Approved DKFZp586K0617, PPP1R155 uc002vgt.2 Q9HBL0 OTTHUMG00000133056 ENST00000419504.1:c.3022+538T>C chr2.hg19:g.218694551A>G NA Q4ZG71|Q6IPI5 hg19 0.02 4.671624 CACxGCA COVERED NOVEL TNS1-004 NOVEL basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000339207.1 0 5.389614 KEEP 0 2 75 44 1440 AA 1 0.999978 0 - 11 60 375 0 0 27.555478 92 60 3426 191 ENST00000419504.1 0.106796 0.999978 TNS1 7145 __UNKNOWN__ __UNKNOWN__ 2 218747146 218747146 __UNKNOWN__ Intron SNP G G A rs2303382 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:218747146G>A ENST00000419504.1 - 14 1033 TNS1_ENST00000430930.1_Intron|TNS1_ENST00000171887.4_Intron|TNS1_ENST00000310858.6_Intron Q9HBL0 TENS1_HUMAN tensin 1 NA NA cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925) poly(A) RNA binding (GO:0044822) breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) TGGAAAAAGAGAAGGAAAAAT 0.303 NA G||| 141 0.028155 0.0 0.0173 5008 , , NA 14241 0.1071 NA 0.0 False NA ,,, NA NA NA 2504 0.0215 NA NA NA NA 0 G 3,4403 6.2+/-15.9 0,3,2200 50 51 51 2.5 0 2 dbSNP_100 51 11,8589 5.7+/-21.5 0,11,4289 no intron TNS1 NM_022648.4 0,14,6489 AA,AG,GG 0.1279,0.0681,0.1076 218747146 14,12992 2203 4300 6503 SO:0001627 intron_variant AB209238 CCDS2407.1 2q35-q36 2014-06-13 2005-05-13 2005-05-13 ENSG00000079308 ENSG00000079308 7145 Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs, SH2 domain containing 11973 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 155 600076 tensin, matrix-remodelling associated 6 TNS, MXRA6 NA Standard NM_022648 NM_022648 NA Approved DKFZp586K0617, PPP1R155 uc002vgt.2 Q9HBL0 OTTHUMG00000133056 ENST00000419504.1:c.872-12C>T chr2.hg19:g.218747146G>A NA Q4ZG71|Q6IPI5 hg19 0.02 3.736379 AGAxAAG COVERED NOVEL TNS1-004 NOVEL basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000339207.1 0 23.776382 KEEP 0 0 0 79 2794 GG 1 1 0 - 7 60 243 0 0 15.807104 123 60 4604 260 ENST00000419504.1 0.053846 1 RUFY4 285180 __UNKNOWN__ __UNKNOWN__ 2 218937860 218937860 __UNKNOWN__ Intron SNP G G T rs10211510 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:218937860G>T ENST00000463872.1 + 2 15 RUFY4_ENST00000441828.2_Intron|RUFY4_ENST00000374155.3_Intron|RUFY4_ENST00000344321.7_Intron Q6ZNE9 RUFY4_HUMAN RUN and FYVE domain containing 4 NA NA metal ion binding (GO:0046872) endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1) 10 Renal(207;0.0915) Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) ATGACGGTGTGTAGTGGAGGC 0.592 NA G||| 1284 0.25639 0.0348 0.3458 5008 , , NA 11999 0.3472 NA 0.3101 False NA ,,, NA NA NA 2504 0.3436 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK128393 2q35 2007-01-29 ENSG00000188282 ENSG00000188282 285180 Zinc fingers, FYVE domain containing 24804 protein-coding gene gene with protein product NA Standard NM_198483 NM_198483 NA Approved FLJ46536 uc010fvl.2 Q6ZNE9 OTTHUMG00000155235 ENST00000463872.1:c.16-106G>T chr2.hg19:g.218937860G>T NA Q6ZR96 hg19 0.02 -0.421119 TGTxTAG COVERED NOVEL RUFY4-009 PUTATIVE basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000338935.1 1 3.009534 KEEP 0 0 0 10 334 GG 0.992708 0.941486 0 + 3 60 107 0 0 7.25922 45 60 1684 63 ENST00000463872.1 0.0625 0.948402 PNKD 25953 __UNKNOWN__ __UNKNOWN__ 2 219210606 219210606 __UNKNOWN__ 3'UTR SNP T T C rs1052578 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:219210606T>C ENST00000258362.3 + 0 2083 AC021016.8_ENST00000411433.1_RNA|PNKD_ENST00000273077.4_3'UTR NM_022572.4 NP_072094.1 Q8N490 PNKD_HUMAN paroxysmal nonkinesigenic dyskinesia NA NA glutathione biosynthetic process (GO:0006750)|neuromuscular process controlling posture (GO:0050884)|regulation of dopamine metabolic process (GO:0042053)|regulation of synaptic transmission, dopaminergic (GO:0032225) membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634) hydroxyacylglutathione hydrolase activity (GO:0004416)|zinc ion binding (GO:0008270) NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2) 10 Renal(207;0.0474) Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TCTGCCCGCCTTCCTCCATCT 0.502 NA T||| 2387 0.476637 0.1437 0.5677 5008 , , NA 19846 0.6468 NA 0.5517 False NA ,,, NA NA NA 2504 0.6094 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS2411.1, CCDS2413.1, CCDS42816.1 2q35 2011-01-21 2007-07-12 ENSG00000127838 ENSG00000127838 25953 9153 protein-coding gene gene with protein product myofibrillogenesis regulator 1 609023 paroxysmal nonkinesiogenic dyskinesia NA 8659518 Standard NM_015488 NA Approved DYT8, PDC, DKFZp564N1362, FPD1, MR-1, BRP17, FKSG19, TAHCCP2, KIAA1184, KIPP1184, MGC31943, PKND1 uc002vhn.3 Q8N490 OTTHUMG00000133110 ENST00000258362.3:c.*902T>C chr2.hg19:g.219210606T>C NA A8K1F2|Q96A48|Q9BU26|Q9NSX4|Q9ULN6|Q9Y4T1 hg19 CCDS2413.1 0.02 4.727546 GCCxTCC COVERED NOVEL PNKD-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256776.2 0 6.319126 KEEP 0 0 0 21 667 TT 0.999869 0.99986 0 + 8 60 298 0 0 21.234626 100 60 3670 141 ENST00000258362.3 0.074074 0.999991 PNKD 25953 __UNKNOWN__ __UNKNOWN__ 2 219210781 219210781 __UNKNOWN__ 3'UTR SNP G G A rs9076 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:219210781G>A ENST00000258362.3 + 0 2258 AC021016.8_ENST00000411433.1_RNA|PNKD_ENST00000273077.4_3'UTR NM_022572.4 NP_072094.1 Q8N490 PNKD_HUMAN paroxysmal nonkinesigenic dyskinesia NA NA glutathione biosynthetic process (GO:0006750)|neuromuscular process controlling posture (GO:0050884)|regulation of dopamine metabolic process (GO:0042053)|regulation of synaptic transmission, dopaminergic (GO:0032225) membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634) hydroxyacylglutathione hydrolase activity (GO:0004416)|zinc ion binding (GO:0008270) NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2) 10 Renal(207;0.0474) Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GCTCTGACGTGCAGGTTGGAA 0.607 NA G||| 2344 0.468051 0.1415 0.5663 5008 , , NA 16980 0.6458 NA 0.5517 False NA ,,, NA NA NA 2504 0.5706 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS2411.1, CCDS2413.1, CCDS42816.1 2q35 2011-01-21 2007-07-12 ENSG00000127838 ENSG00000127838 25953 9153 protein-coding gene gene with protein product myofibrillogenesis regulator 1 609023 paroxysmal nonkinesiogenic dyskinesia NA 8659518 Standard NM_015488 NA Approved DYT8, PDC, DKFZp564N1362, FPD1, MR-1, BRP17, FKSG19, TAHCCP2, KIAA1184, KIPP1184, MGC31943, PKND1 uc002vhn.3 Q8N490 OTTHUMG00000133110 ENST00000258362.3:c.*1077G>A chr2.hg19:g.219210781G>A NA A8K1F2|Q96A48|Q9BU26|Q9NSX4|Q9ULN6|Q9Y4T1 hg19 CCDS2413.1 0.02 3.903873 CGTxCAG COVERED NOVEL PNKD-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256776.2 3 14.446274 KEEP 0 0 0 48 1686 GG 1 1 0 + 11 60 391 0 0 27.442757 134 60 4973 245 ENST00000258362.3 0.075862 1 CTDSP1 58190 __UNKNOWN__ __UNKNOWN__ 2 219269953 219269953 __UNKNOWN__ 3'UTR SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:219269953G>A ENST00000273062.2 + 0 1927 NM_021198.2|NM_182642.2 NP_067021.1|NP_872580.1 Q9GZU7 CTDS1_HUMAN CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 1 NA NA negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|protein dephosphorylation (GO:0006470)|regulation of transcription from RNA polymerase II promoter (GO:0006357) extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872) NS(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1) 8 Renal(207;0.0915) Epithelial(149;9.96e-07)|all cancers(144;0.00017)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GAAGGGTCAGGGTAGAGACAC 0.493 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF229162 CCDS2416.1, CCDS56166.1 2q35 2010-06-21 ENSG00000144579 ENSG00000144579 58190 Serine/threonine phosphatases / CTD aspartate-based phosphatases 21614 protein-coding gene gene with protein product nuclear LIM interactor-interacting factor, small CTD phosphatase 1 605323 NA 11950066, 12721286 Standard NM_182642, NM_021198 NM_021198 NA Approved NLIIF, SCP1 uc021vwv.1 Q9GZU7 OTTHUMG00000133109 ENST00000273062.2:c.*805G>A chr2.hg19:g.219269953G>A NA C9IYG0|Q7Z5Q3|Q7Z5Q4 hg19 CCDS2416.1 0.02 7.280599 CAGxGTA COVERED NOVEL CTDSP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256774.1 3 15.348134 KEEP 0 0 0 51 1742 GG 1 1 0 + 8 60 308 0 0 20.63351 161 60 5914 269 ENST00000273062.2 0.047337 1 CCDC108 255101 __UNKNOWN__ __UNKNOWN__ 2 219892523 219892523 __UNKNOWN__ Missense_Mutation SNP A A G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:219892523A>G ENST00000341552.5 - 13 2143 c.2060T>C c.(2059-2061)gTc>gCc p.V687A CCDC108_ENST00000453220.1_Missense_Mutation_p.V687A|CCDC108_ENST00000409865.3_Missense_Mutation_p.V676A|CCDC108_ENST00000441968.1_Missense_Mutation_p.V687A|CCDC108_ENST00000410037.1_Missense_Mutation_p.V622A NM_194302.2 NP_919278.2 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 687 NA integral component of membrane (GO:0016021) poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198) autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TCGCGTCCAGACCACCATGAT 0.637 NA NA NA NA NA NA NA NA NA NA NA 0 72 66 68 NA NA 2 NA 219892523 2203 4300 6503 SO:0001583 missense NM_194302, AL833882, AK127189 CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1 2q35 2008-02-05 ENSG00000181378 ENSG00000181378 255101 25325 protein-coding gene gene with protein product 614270 NA 12477932 Standard NM_194302 NM_194302 NA Approved DKFZp434O0527, MGC35338 uc002vjl.2 Q6ZU64 OTTHUMG00000133013 ENST00000341552.5:c.2060T>C chr2.hg19:g.219892523A>G ENSP00000340776:p.Val687Ala NA A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3 hg19 CCDS2430.2 0.02 19.129471 CAGxCCA COVERED . . . . . . . . . . A 9.485 1.099230 0.20552 . . ENSG00000181378 ENST00000341552;ENST00000441968;ENST00000453220;ENST00000545086;ENST00000409865;ENST00000410037;ENST00000441164 T;T;T;T;T 0.08634 3.43;3.43;3.43;3.07;3.08 5.18 0.172 0.15031 . 0.519079 0.16229 N 0.223699 T 0.04724 0.0128 N 0.25144 0.715 0.80722 D 1 B;B;B 0.15141 0.012;0.005;0.012 B;B;B 0.18871 0.013;0.013;0.023 T 0.38520 -0.9657 10 0.06365 T 0.9 -25.2757 10.1282 0.42663 0.6088:0.0:0.3912:0.0 . 676;621;687 E9PG25;B4DYZ8;Q6ZU64 .;.;CC108_HUMAN A 687;687;687;163;676;622;621 ENSP00000340776:V687A;ENSP00000413377:V687A;ENSP00000409117:V687A;ENSP00000386945:V676A;ENSP00000386258:V622A ENSP00000340776:V687A V - 2 0 CCDC108 219600767 0.992000 0.36948 0.999000 0.59377 0.190000 0.23558 1.191000 0.32138 0.120000 0.18254 0.533000 0.62120 GTC NOVEL CCDC108-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000256598.4 2 21.963058 KEEP 0 0 0 73 2243 AA 1 1 0 - 18 60 681 0 0 44.458788 401 60 13862 588 ENST00000341552.5 0.042959 1 CCDC108 255101 __UNKNOWN__ __UNKNOWN__ 2 219894457 219894457 __UNKNOWN__ Intron SNP G G T rs182649054 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:219894457G>T ENST00000341552.5 - 11 1468 CCDC108_ENST00000453220.1_Intron|CCDC108_ENST00000409865.3_Intron|CCDC108_ENST00000441968.1_Intron|CCDC108_ENST00000410037.1_Intron NM_194302.2 NP_919278.2 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 NA NA integral component of membrane (GO:0016021) poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198) autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CTGAAGGGAGGTGGTACTCTC 0.572 NA OREG0015211 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) G||| 1 0.000199681 0.0 0.0 5008 , , NA 20691 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NM_194302, AL833882, AK127189 CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1 2q35 2008-02-05 ENSG00000181378 ENSG00000181378 255101 25325 protein-coding gene gene with protein product 614270 NA 12477932 Standard NM_194302 NM_194302 NA Approved DKFZp434O0527, MGC35338 uc002vjl.2 Q6ZU64 OTTHUMG00000133013 ENST00000341552.5:c.1385-67C>A chr2.hg19:g.219894457G>T 2262 A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3 hg19 CCDS2430.2 0.02 6.096685 GAGxTGG COVERED NOVEL CCDC108-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000256598.4 1 3.309957 KEEP 0 0 0 11 370 GG 0.993072 0.993072 0 - 7 60 252 0 0 16.138989 149 60 5435 176 ENST00000341552.5 0.044872 1 FAM134A 79137 __UNKNOWN__ __UNKNOWN__ 2 220045454 220045454 __UNKNOWN__ Silent SNP G G A rs2293072 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:220045454G>A ENST00000430297.2 + 5 754 c.618G>A c.(616-618)ggG>ggA p.G206G NM_024293.4 NP_077269.3 Q8NC44 F134A_HUMAN family with sequence similarity 134, member A 206 NA integral component of membrane (GO:0016021) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2) 19 Renal(207;0.0915) Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ATGTTCCAGGGATTATGATTT 0.483 NA G||| 834 0.166534 0.0333 0.183 5008 , , NA 20145 0.5337 NA 0.0427 False NA ,,, NA NA NA 2504 0.0838 NA NA NA NA 0 G 160,4246 107.8+/-146.2 8,144,2051 483 384 418 618 0.5 1 2 dbSNP_100 418 309,8291 110.8+/-171.2 5,299,3996 no coding-synonymous FAM134A NM_024293.4 13,443,6047 AA,AG,GG 3.593,3.6314,3.606 206/544 220045454 469,12537 2203 4300 6503 SO:0001819 synonymous_variant AK074983 CCDS2434.1 2q36.1 2008-02-05 2007-05-01 2007-05-01 ENSG00000144567 ENSG00000144567 79137 28450 protein-coding gene gene with protein product chromosome 2 open reading frame 17 C2orf17 NA Standard NM_024293 NM_024293 NA Approved MGC3035 uc002vjw.4 Q8NC44 OTTHUMG00000154577 ENST00000430297.2:c.618G>A chr2.hg19:g.220045454G>A NA Q6P1P5|Q9H0K7 hg19 CCDS2434.1 0.02 19.429836 AGGxATT COVERED NOVEL FAM134A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000336147.2 3 49.659526 KEEP 0 0 0 165 5757 GG 1 1 0 + 23 60 832 0 0 54.46543 440 60 16538 822 ENST00000430297.2 0.049676 1 PTPRN 5798 __UNKNOWN__ __UNKNOWN__ 2 220155105 220155105 __UNKNOWN__ Intron SNP G G A rs12472762 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:220155105G>A ENST00000295718.2 - 23 3109 PTPRN_ENST00000423636.2_Intron|PTPRN_ENST00000409251.3_Intron|PTPRN_ENST00000497977.1_Intron NM_002846.3 NP_002837.1 Q16849 PTPRN_HUMAN protein tyrosine phosphatase, receptor type, N NA NA cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302) integral component of plasma membrane (GO:0005887) spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001) breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Renal(207;0.0474) Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875) TGGGGGGAGGGCCCTGGGCAG 0.627 NA g||| 807 0.161142 0.0045 0.2536 5008 , , NA 16705 0.5437 NA 0.004 False NA ,,, NA NA NA 2504 0.0746 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS2440.1, CCDS56167.1, CCDS56168.1 2q35-q36.1 2011-06-09 ENSG00000054356 ENSG00000054356 5798 Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like 9676 protein-coding gene gene with protein product 601773 NA 8024693 Standard NM_001199763 NA Approved IA-2 uc002vkz.3 Q16849 OTTHUMG00000133129 ENST00000295718.2:c.2869-86C>T chr2.hg19:g.220155105G>A NA B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1 hg19 CCDS2440.1 0.02 1.676984 AGGxCCC COVERED NOVEL PTPRN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256819.2 2 5.415822 KEEP 0 0 0 18 566 GG 0.999859 0.996584 0 - 5 60 170 0 0 11.573898 65 60 2267 93 ENST00000295718.2 0.071429 0.996724 DES 1674 __UNKNOWN__ __UNKNOWN__ 2 220285309 220285309 __UNKNOWN__ Silent SNP C C T rs1058261 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:220285309C>T ENST00000373960.3 + 4 914 c.828C>T c.(826-828)gaC>gaT p.D276D NM_001927.3 NP_001918.3 P17661 DESM_HUMAN desmin 276 Coil 2A.|Rod. NA cytoskeleton organization (GO:0007010)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart contraction (GO:0008016) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intermediate filament (GO:0005882)|neuromuscular junction (GO:0031594)|sarcolemma (GO:0042383)|Z disc (GO:0030018) cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200) breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1) 18 Renal(207;0.0183) Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008) CCCTCAGGGACATCCGGGCTC 0.587 NA C||| 1690 0.33746 0.475 0.3429 5008 , , NA 21149 0.1835 NA 0.3648 False NA ,,, NA NA NA 2504 0.2781 NA NA NA NA 0 C 1944,2462 551.4+/-378.3 437,1070,696 70 64 66 828 4.7 1 2 dbSNP_86 66 3057,5543 469.8+/-367.7 567,1923,1810 no coding-synonymous DES NM_001927.3 1004,2993,2506 TT,TC,CC 35.5465,44.1217,38.4515 276/471 220285309 5001,8005 2203 4300 6503 SO:0001819 synonymous_variant AF521879 CCDS33383.1 2q35 2014-09-17 ENSG00000175084 ENSG00000175084 1674 Intermediate filaments type III 2770 protein-coding gene gene with protein product intermediate filament protein 125660 NA 2673923, 9736733 Standard NM_001927 NM_001927 NA Approved CMD1I, CSM1, CSM2 uc002vll.3 P17661 OTTHUMG00000058924 ENST00000373960.3:c.828C>T chr2.hg19:g.220285309C>T NA Q15787|Q549R7|Q549R8|Q549R9|Q8IZR1|Q8IZR6|Q8NES2|Q8NEU6|Q8TAC4|Q8TCX2|Q8TD99|Q9UHN5|Q9UJ80 hg19 CCDS33383.1 0.02 12.855682 GGAxATC COVERED NOVEL DES-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000130240.1 2 22.600287 KEEP 0 1 31 86 3020 CC 1 1 0 + 15 60 543 0 0 35.257636 301 60 11412 511 ENST00000373960.3 0.047468 1 DES 1674 __UNKNOWN__ __UNKNOWN__ 2 220285666 220285666 __UNKNOWN__ Silent SNP G G C rs12920 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:220285666G>C ENST00000373960.3 + 5 1100 c.1014G>C c.(1012-1014)ctG>ctC p.L338L NM_001927.3 NP_001918.3 P17661 DESM_HUMAN desmin 338 Coil 2B.|Rod. NA L -> R (in MFM1; results in the formation of a filamentous network disrupted by multiple breaks and clumps or large aggregates). {ECO:0000269|PubMed:16865695}. cytoskeleton organization (GO:0007010)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart contraction (GO:0008016) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intermediate filament (GO:0005882)|neuromuscular junction (GO:0031594)|sarcolemma (GO:0042383)|Z disc (GO:0030018) cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200) breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1) 18 Renal(207;0.0183) Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008) TTGACGCCCTGAAGGGCACTG 0.592 NA C||| 1691 0.33766 0.475 0.3444 5008 , , NA 19718 0.1835 NA 0.3648 False NA ,,, NA NA NA 2504 0.2781 NA NA NA NA 0 C 1974,2432 614.6+/-392.4 454,1066,683 77 66 70 1014 2.1 1 2 dbSNP_52 70 3054,5546 658.0+/-401.5 564,1926,1810 no coding-synonymous DES NM_001927.3 1018,2992,2493 CC,CG,GG 35.5116,44.8025,38.6591 338/471 220285666 5028,7978 2203 4300 6503 SO:0001819 synonymous_variant AF521879 CCDS33383.1 2q35 2014-09-17 ENSG00000175084 ENSG00000175084 1674 Intermediate filaments type III 2770 protein-coding gene gene with protein product intermediate filament protein 125660 NA 2673923, 9736733 Standard NM_001927 NM_001927 NA Approved CMD1I, CSM1, CSM2 uc002vll.3 P17661 OTTHUMG00000058924 ENST00000373960.3:c.1014G>C chr2.hg19:g.220285666G>C NA Q15787|Q549R7|Q549R8|Q549R9|Q8IZR1|Q8IZR6|Q8NES2|Q8NEU6|Q8TAC4|Q8TCX2|Q8TD99|Q9UHN5|Q9UJ80 hg19 CCDS33383.1 0.02 9.968701 CCTxAAG COVERED NOVEL DES-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000130240.1 1 8.363148 KEEP 0 1 35 40 1410 GG 1 1 0 + 15 60 570 0 0 40.923342 188 60 7088 285 ENST00000373960.3 0.073892 1 DES 1674 __UNKNOWN__ __UNKNOWN__ 2 220286142 220286142 __UNKNOWN__ Silent SNP G G A rs1058284 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:220286142G>A ENST00000373960.3 + 6 1190 c.1104G>A c.(1102-1104)gcG>gcA p.A368A NM_001927.3 NP_001918.3 P17661 DESM_HUMAN desmin 368 Coil 2B.|Rod. NA cytoskeleton organization (GO:0007010)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart contraction (GO:0008016) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intermediate filament (GO:0005882)|neuromuscular junction (GO:0031594)|sarcolemma (GO:0042383)|Z disc (GO:0030018) cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200) breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1) 18 Renal(207;0.0183) Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008) ACAACATTGCGCGCCTGGAGG 0.597 NA G||| 1671 0.333666 0.4607 0.3429 5008 , , NA 17124 0.1835 NA 0.3648 False NA ,,, NA NA NA 2504 0.2781 NA NA NA NA 0 G 1945,2461 551.7+/-378.3 442,1061,700 60 59 60 1104 -10.2 0 2 dbSNP_86 60 3055,5545 469.1+/-367.5 567,1921,1812 no coding-synonymous DES NM_001927.3 1009,2982,2512 AA,AG,GG 35.5233,44.1443,38.4438 368/471 220286142 5000,8006 2203 4300 6503 SO:0001819 synonymous_variant AF521879 CCDS33383.1 2q35 2014-09-17 ENSG00000175084 ENSG00000175084 1674 Intermediate filaments type III 2770 protein-coding gene gene with protein product intermediate filament protein 125660 NA 2673923, 9736733 Standard NM_001927 NM_001927 NA Approved CMD1I, CSM1, CSM2 uc002vll.3 P17661 OTTHUMG00000058924 ENST00000373960.3:c.1104G>A chr2.hg19:g.220286142G>A NA Q15787|Q549R7|Q549R8|Q549R9|Q8IZR1|Q8IZR6|Q8NES2|Q8NEU6|Q8TAC4|Q8TCX2|Q8TD99|Q9UHN5|Q9UJ80 hg19 CCDS33383.1 0.02 9.909663 TGCxCGC COVERED NOVEL DES-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000130240.1 0 18.192558 KEEP 0 1 30 71 2496 GG 1 1 0 + 10 60 320 0 0 18.332566 256 60 9145 441 ENST00000373960.3 0.037594 1 SPEG 10290 __UNKNOWN__ __UNKNOWN__ 2 220308789 220308789 __UNKNOWN__ Intron SNP A A G rs148097397 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:220308789A>G ENST00000312358.7 + 2 520 SPEG_ENST00000396695.2_Intron|SPEG_ENST00000396698.1_Intron NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus NA NA cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541) nucleus (GO:0005634) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674) breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) ACGGTAGGAAACTGGCTCCTG 0.602 NA A||| 68 0.0135783 0.0 0.0591 5008 , , NA 13645 0.0268 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 20 20 20 NA NA 2 NA 220308789 876 1991 2867 SO:0001627 intron_variant BC006346 CCDS42824.1, CCDS54432.1 2q35 2013-01-11 2006-04-27 2006-04-27 ENSG00000072195 ENSG00000072195 10290 Immunoglobulin superfamily / I-set domain containing 16901 protein-coding gene gene with protein product 615950 aortic preferentially expressed gene 1 APEG1 NA 8663449, 10973969 Standard NM_005876 NM_005876 NA Approved MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG uc010fwg.3 Q15772 OTTHUMG00000058925 ENST00000312358.7:c.389-586A>G chr2.hg19:g.220308789A>G NA A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9 hg19 CCDS42824.1 0.02 8.492883 GAAxCTG COVERED NOVEL SPEG-004 NOVEL not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000130252.2 0 30.391408 KEEP 0 0 0 101 3205 AA 1 1 0 + 8 60 268 0 0 15.881549 204 60 7139 410 ENST00000312358.7 0.037736 1 GMPPA 29926 __UNKNOWN__ __UNKNOWN__ 2 220366953 220366953 __UNKNOWN__ Intron SNP G G C rs2385539 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:220366953G>C ENST00000358215.3 + 6 798 GMPPA_ENST00000373917.3_Intron|GMPPA_ENST00000341142.3_Intron|AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000313597.5_Intron|GMPPA_ENST00000373908.1_Intron NM_205847.2 NP_995319.1 Q96IJ6 GMPPA_HUMAN GDP-mannose pyrophosphorylase A NA NA cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062) nucleotidyltransferase activity (GO:0016779) breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1) 20 Renal(207;0.0183) Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148) AAGTAGGGAGGGGGAGGGCAG 0.592 NA G||| 2342 0.467652 0.0461 0.5504 5008 , , NA 17704 0.7609 NA 0.6382 False NA ,,, NA NA NA 2504 0.501 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF135422 CCDS2441.1 2q36.1 2008-02-05 ENSG00000144591 ENSG00000144591 29926 22923 protein-coding gene gene with protein product 615495 NA Standard NM_013335 NM_205847 NA Approved uc002vlr.3 Q96IJ6 OTTHUMG00000058922 ENST00000358215.3:c.430-151G>C chr2.hg19:g.220366953G>C NA A6NJ74|A8K3Q6|B3KMT4|Q53GI0|Q9NWC3|Q9Y5P5 hg19 CCDS2441.1 0.02 4.736432 GAGxGGG COVERED NOVEL GMPPA-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000130230.1 1 3.611687 KEEP 0 0 0 12 417 GG 0.993634 0.993623 0 + 6 60 217 0 0 14.553477 100 60 3581 123 ENST00000358215.3 0.056604 0.999989 ASIC4 55515 __UNKNOWN__ __UNKNOWN__ 2 220379560 220379560 __UNKNOWN__ Silent SNP C C G rs3731909 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:220379560C>G ENST00000358078.4 + 1 509 c.495C>G c.(493-495)gcC>gcG p.A165A AC053503.11_ENST00000429882.1_RNA|ASIC4_ENST00000347842.3_Silent_p.A165A Q96FT7 ASIC4_HUMAN acid-sensing (proton-gated) ion channel family member 4 165 NA ion transmembrane transport (GO:0034220)|sodium ion transmembrane transport (GO:0035725)|transport (GO:0006810) integral component of plasma membrane (GO:0005887) ion channel activity (GO:0005216)|sodium channel activity (GO:0005272)|sodium ion transmembrane transporter activity (GO:0015081) NA CTGGAGCAGCCCCCCGAGACC 0.647 NA C||| 2539 0.506989 0.1944 0.5634 5008 , , NA 15032 0.7649 NA 0.6362 False NA ,,, NA NA NA 2504 0.4908 NA NA NA NA 0 C , 1163,3243 157,849,1197 31 37 35 495,495 -1.3 0.4 2 dbSNP_107 35 5391,3207 1705,1981,613 no coding-synonymous,coding-synonymous ACCN4 NM_018674.4,NM_182847.2 , 1862,2830,1810 GG,GC,CC 37.2994,26.3958,49.6001 , 165/667,165/648 220379560 6554,6450 2203 4299 6502 SO:0001819 synonymous_variant AJ271643 CCDS2442.1 2q36.1 2012-02-22 2012-02-22 2012-02-22 ENSG00000072182 ENSG00000072182 55515 Ion channels / Acid-sensing (proton-gated) ion channels 21263 protein-coding gene gene with protein product 606715 amiloride-sensitive cation channel 4, pituitary, amiloride-sensitive cation channel family member 4, pituitary ACCN4 NA 10852210 Standard NM_018674 NM_182847 NA Approved BNAC4 uc002vma.3 Q96FT7 OTTHUMG00000058928 ENST00000358078.4:c.495C>G chr2.hg19:g.220379560C>G NA Q53SB7|Q6GMS1|Q6PIN9|Q9NQA4 hg19 0.02 19.104432 AGCxCCC COVERED NOVEL ASIC4-002 NOVEL not_organism_supported|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000130266.1 5 21.776304 KEEP 0 3 87 103 3558 CC 1 1 0 + 25 60 896 0 0 60.660625 385 60 13648 654 ENST00000358078.4 0.060976 1 ASIC4 55515 __UNKNOWN__ __UNKNOWN__ 2 220401732 220401732 __UNKNOWN__ Intron SNP G G A rs3770237 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:220401732G>A ENST00000358078.4 + 7 1624 ASIC4_ENST00000347842.3_Intron Q96FT7 ASIC4_HUMAN acid-sensing (proton-gated) ion channel family member 4 NA NA ion transmembrane transport (GO:0034220)|sodium ion transmembrane transport (GO:0035725)|transport (GO:0006810) integral component of plasma membrane (GO:0005887) ion channel activity (GO:0005216)|sodium channel activity (GO:0005272)|sodium ion transmembrane transporter activity (GO:0015081) NA GGATGCCCCTGCCAGCCTTCT 0.587 NA G||| 1085 0.216653 0.3079 0.2579 5008 , , NA 16894 0.1538 NA 0.2018 False NA ,,, NA NA NA 2504 0.1442 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ271643 CCDS2442.1 2q36.1 2012-02-22 2012-02-22 2012-02-22 ENSG00000072182 ENSG00000072182 55515 Ion channels / Acid-sensing (proton-gated) ion channels 21263 protein-coding gene gene with protein product 606715 amiloride-sensitive cation channel 4, pituitary, amiloride-sensitive cation channel family member 4, pituitary ACCN4 NA 10852210 Standard NM_018674 NM_182847 NA Approved BNAC4 uc002vma.3 Q96FT7 OTTHUMG00000058928 ENST00000358078.4:c.1611-56G>A chr2.hg19:g.220401732G>A NA Q53SB7|Q6GMS1|Q6PIN9|Q9NQA4 hg19 0.02 4.03555 CCTxCCA COVERED NOVEL ASIC4-002 NOVEL not_organism_supported|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000130266.1 2 10.223821 KEEP 0 0 0 34 1189 GG 0.999998 0.999998 0 + 8 60 271 0 0 17.886454 122 60 4622 188 ENST00000358078.4 0.061538 1 ASIC4 55515 __UNKNOWN__ __UNKNOWN__ 2 220401751 220401751 __UNKNOWN__ Intron SNP G G A rs2385538 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:220401751G>A ENST00000358078.4 + 7 1624 ASIC4_ENST00000347842.3_Intron Q96FT7 ASIC4_HUMAN acid-sensing (proton-gated) ion channel family member 4 NA NA ion transmembrane transport (GO:0034220)|sodium ion transmembrane transport (GO:0035725)|transport (GO:0006810) integral component of plasma membrane (GO:0005887) ion channel activity (GO:0005216)|sodium channel activity (GO:0005272)|sodium ion transmembrane transporter activity (GO:0015081) NA CTCAGGAAGAGAGGCCCACAC 0.577 NA A||| 1821 0.363618 0.3578 0.5173 5008 , , NA 17383 0.3085 NA 0.4543 False NA ,,, NA NA NA 2504 0.226 NA NA NA NA 0 A , 1697,2709 652.3+/-399.4 296,1105,802 45 45 45 , -0.9 0 2 dbSNP_100 45 4037,4563 596.0+/-393.5 965,2107,1228 no intron,intron ACCN4 NM_018674.4,NM_182847.2 , 1261,3212,2030 AA,AG,GG 46.9419,38.5157,44.0873 , , 220401751 5734,7272 2203 4300 6503 SO:0001627 intron_variant AJ271643 CCDS2442.1 2q36.1 2012-02-22 2012-02-22 2012-02-22 ENSG00000072182 ENSG00000072182 55515 Ion channels / Acid-sensing (proton-gated) ion channels 21263 protein-coding gene gene with protein product 606715 amiloride-sensitive cation channel 4, pituitary, amiloride-sensitive cation channel family member 4, pituitary ACCN4 NA 10852210 Standard NM_018674 NM_182847 NA Approved BNAC4 uc002vma.3 Q96FT7 OTTHUMG00000058928 ENST00000358078.4:c.1611-37G>A chr2.hg19:g.220401751G>A NA Q53SB7|Q6GMS1|Q6PIN9|Q9NQA4 hg19 0.02 6.143558 AGAxAGG COVERED NOVEL ASIC4-002 NOVEL not_organism_supported|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000130266.1 2 12.942403 KEEP 0 0 0 43 1537 GG 1 1 0 + 7 60 236 0 0 14.472005 155 60 5871 255 ENST00000358078.4 0.04321 1 TMEM198 130612 __UNKNOWN__ __UNKNOWN__ 2 220414019 220414019 __UNKNOWN__ Silent SNP T T C rs13023533 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:220414019T>C ENST00000344458.2 + 5 1473 c.888T>C c.(886-888)ccT>ccC p.P296P TMEM198_ENST00000373883.3_Silent_p.P296P Q66K66 TM198_HUMAN transmembrane protein 198 296 Arg-rich. NA multicellular organismal development (GO:0007275)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055) cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 16 Renal(207;0.0376) Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802) CACCAGACCCTGCTTATCGGC 0.622 NA T||| 1965 0.392372 0.4077 0.5231 5008 , , NA 11770 0.38 NA 0.4592 False NA ,,, NA NA NA 2504 0.2229 NA NA NA NA 0 T 716,3690 295,126,1782 41 45 44 888 -1.4 1 2 dbSNP_121 44 1537,7063 640,257,3403 no coding-synonymous TMEM198 NM_001005209.1 935,383,5185 CC,CT,TT 17.8721,16.2506,17.3228 296/361 220414019 2253,10753 2203 4300 6503 SO:0001819 synonymous_variant BC068567 CCDS33385.1 2q35 2011-12-06 ENSG00000188760 ENSG00000188760 130612 33704 protein-coding gene gene with protein product NA Standard NM_001005209 NM_001005209 NA Approved MGC99813, TMEM198A uc002vmf.3 Q66K66 OTTHUMG00000059156 ENST00000344458.2:c.888T>C chr2.hg19:g.220414019T>C NA hg19 CCDS33385.1 0.02 5.478803 CCCxGCT COVERED NOVEL TMEM198-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000131063.1 0 21.181702 KEEP 0 1 33 82 2540 TT 1 1 0 + 12 60 394 0 0 25.960979 169 60 6180 300 ENST00000344458.2 0.066298 1 OBSL1 23363 __UNKNOWN__ __UNKNOWN__ 2 220417266 220417266 __UNKNOWN__ Missense_Mutation SNP C C T rs59332477 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:220417266C>T ENST00000404537.1 - 18 5356 c.5300G>A c.(5299-5301)cGa>cAa p.R1767Q OBSL1_ENST00000373876.1_Missense_Mutation_p.R1675Q|OBSL1_ENST00000265318.4_3'UTR NM_015311.2 NP_056126.1 O75147 OBSL1_HUMAN obscurin-like 1 1767 NA cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088) 3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018) cytoskeletal adaptor activity (GO:0008093) NA Renal(207;0.0376) Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834) ACCTTCCTGTCGGATGCGGAC 0.731 NA C||| 1886 0.376597 0.3495 0.5202 5008 , , NA 10361 0.3819 NA 0.4583 False NA ,,, NA NA NA 2504 0.2219 NA NA NA NA 0 C GLN/ARG 1409,2443 283,843,800 9 13 12 5300 4.6 1 2 dbSNP_129 12 3644,4534 865,1914,1310 yes missense OBSL1 NM_015311.2 43 1148,2757,2110 TT,TC,CC 44.5586,36.5784,42.0033 probably-damaging 1767/1897 220417266 5053,6977 1926 4089 6015 SO:0001583 missense BC007201 CCDS46520.1, CCDS54433.1, CCDS63134.1 2q35 2013-01-29 ENSG00000124006 ENSG00000124006 23363 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 29092 protein-coding gene gene with protein product 610991 NA 9734811 Standard NM_015311 NA Approved KIAA0657 uc010fwk.3 O75147 OTTHUMG00000059157 ENST00000404537.1:c.5300G>A chr2.hg19:g.220417266C>T ENSP00000385636:p.Arg1767Gln NA A4KVA4|A4KVA5|Q96IW3|S4R3M6 hg19 CCDS46520.1 0.02 6.305911 TGTxGGA COVERED 913 0.41804029304029305 163 0.3313008130081301 168 0.46408839779005523 228 0.3986013986013986 354 0.46701846965699206 C 22.2 4.252406 0.80135 0.365784 0.445586 ENSG00000124006 ENST00000404537;ENST00000373876 T;T 0.66995 -0.24;-0.24 4.61 4.61 0.57282 Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1); . . . . T 0.00012 0.0000 L 0.41356 1.27 0.09310 P 1.0 D 0.89917 1.0 D 0.85130 0.997 T 0.44997 -0.9291 8 0.20519 T 0.43 . 14.2902 0.66273 0.0:1.0:0.0:0.0 rs59332477;rs62191611 1767 O75147 OBSL1_HUMAN Q 1767;1675 ENSP00000385636:R1767Q;ENSP00000362983:R1675Q ENSP00000362983:R1675Q R - 2 0 OBSL1 220125510 0.997000 0.39634 1.000000 0.80357 0.840000 0.47671 3.585000 0.53943 2.390000 0.81377 0.655000 0.94253 CGA NOVEL OBSL1-014 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322012.1 1 60.494621 KEEP 0 2 62 223 7462 CC 1 1 0 - 6 60 219 0 0 13.218142 183 60 6512 585 ENST00000404537.1 0.031746 1 OBSL1 23363 __UNKNOWN__ __UNKNOWN__ 2 220420785 220420785 __UNKNOWN__ Silent SNP G G A rs3087971 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:220420785G>A ENST00000404537.1 - 14 4622 c.4566C>T c.(4564-4566)tgC>tgT p.C1522C OBSL1_ENST00000603926.1_Silent_p.C1522C|OBSL1_ENST00000373876.1_Silent_p.C1430C|OBSL1_ENST00000265317.5_Silent_p.C421C|OBSL1_ENST00000265318.4_Missense_Mutation_p.A1389V NM_015311.2 NP_056126.1 O75147 OBSL1_HUMAN obscurin-like 1 1522 Ig-like 12. NA cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088) 3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018) cytoskeletal adaptor activity (GO:0008093) NA Renal(207;0.0376) Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834) GGTGGCTCTCGCAGCCGTAGG 0.632 NA G||| 1148 0.229233 0.2224 0.2983 5008 , , NA 15387 0.2837 NA 0.2734 False NA ,,, NA NA NA 2504 0.0879 NA NA NA NA 0 G , 944,3286 124,696,1295 41 45 43 4566,4566 -6.8 0.7 2 dbSNP_102 43 2355,6105 334,1687,2209 no coding-synonymous,coding-synonymous OBSL1 NM_001173431.1,NM_015311.2 , 458,2383,3504 AA,AG,GG 27.8369,22.3168,25.9968 , 1522/1544,1522/1897 220420785 3299,9391 2115 4230 6345 SO:0001819 synonymous_variant BC007201 CCDS46520.1, CCDS54433.1, CCDS63134.1 2q35 2013-01-29 ENSG00000124006 ENSG00000124006 23363 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 29092 protein-coding gene gene with protein product 610991 NA 9734811 Standard NM_015311 NA Approved KIAA0657 uc010fwk.3 O75147 OTTHUMG00000059157 ENST00000404537.1:c.4566C>T chr2.hg19:g.220420785G>A NA A4KVA4|A4KVA5|Q96IW3|S4R3M6 hg19 CCDS46520.1 0.02 11.026656 CTCxCAG COVERED 576 0.26373626373626374 93 0.18902439024390244 104 0.287292817679558 171 0.29895104895104896 208 0.27440633245382584 G 1.900 -0.453356 0.04540 0.223168 0.278369 ENSG00000124006 ENST00000265318;ENST00000456147 T 0.56941 0.43 4.39 -6.84 0.01687 . . . . . T 0.00012 0.0000 . . . 0.42041 P 0.008920999999999957 . . . . . . T 0.39860 -0.9593 5 0.87932 D 0 . 14.8475 0.70270 0.569:0.0:0.431:0.0 rs3087971 . . . V 1389;424 ENSP00000265318:A1389V ENSP00000265318:A1389V A - 2 0 OBSL1 220129029 0.000000 0.05858 0.679000 0.29978 0.262000 0.26303 -2.148000 0.01292 -1.935000 0.01049 -0.458000 0.05436 GCG NOVEL OBSL1-014 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322012.1 0 40.325993 KEEP 0 0 0 134 4684 GG 1 1 0 - 16 60 586 0 0 39.73804 259 60 9060 560 ENST00000404537.1 0.058182 1 OBSL1 23363 __UNKNOWN__ __UNKNOWN__ 2 220422774 220422774 __UNKNOWN__ Silent SNP A A G rs2278201 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:220422774A>G ENST00000404537.1 - 11 3617 c.3561T>C c.(3559-3561)ccT>ccC p.P1187P OBSL1_ENST00000603926.1_Silent_p.P1187P|OBSL1_ENST00000373876.1_Silent_p.P1187P|OBSL1_ENST00000265317.5_Silent_p.P178P|OBSL1_ENST00000265318.4_Silent_p.P1095P NM_015311.2 NP_056126.1 O75147 OBSL1_HUMAN obscurin-like 1 1187 Ig-like 10. NA cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088) 3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018) cytoskeletal adaptor activity (GO:0008093) NA Renal(207;0.0376) Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834) CTGGCTCCCCAGGGGCCACAC 0.647 NA G||| 2099 0.419129 0.5113 0.5245 5008 , , NA 16748 0.3839 NA 0.4433 False NA ,,, NA NA NA 2504 0.2311 NA NA NA NA 0 G , 2002,1976 531,940,518 26 30 29 3561,3561 -8.3 0.8 2 dbSNP_100 29 3592,4702 806,1980,1361 no coding-synonymous,coding-synonymous OBSL1 NM_001173431.1,NM_015311.2 , 1337,2920,1879 GG,GA,AA 43.3084,49.6732,45.5834 , 1187/1544,1187/1897 220422774 5594,6678 1989 4147 6136 SO:0001819 synonymous_variant BC007201 CCDS46520.1, CCDS54433.1, CCDS63134.1 2q35 2013-01-29 ENSG00000124006 ENSG00000124006 23363 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 29092 protein-coding gene gene with protein product 610991 NA 9734811 Standard NM_015311 NA Approved KIAA0657 uc010fwk.3 O75147 OTTHUMG00000059157 ENST00000404537.1:c.3561T>C chr2.hg19:g.220422774A>G NA A4KVA4|A4KVA5|Q96IW3|S4R3M6 hg19 CCDS46520.1 0.02 11.523411 CCCxGGG COVERED 983 0.4500915750915751 237 0.4817073170731707 171 0.4723756906077348 231 0.40384615384615385 344 0.45382585751978893 G 0.040 -1.288871 0.01387 0.503268 0.433084 ENSG00000124006 ENST00000456147 . . . 4.16 -8.31 0.01001 . . . . . T 0.00012 0.0000 . . . 0.09310 P 0.999999999815213 . . . . . . T 0.37753 -0.9692 3 . . . . 4.7248 0.12936 0.5677:0.0899:0.254:0.0884 rs2278201;rs13022478;rs59881749;rs2278201 . . . P 181 . . L - 2 0 OBSL1 220131018 0.000000 0.05858 0.773000 0.31616 0.012000 0.07955 -4.618000 0.00207 -2.193000 0.00754 -3.826000 0.00019 CTG NOVEL OBSL1-014 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322012.1 3 27.687759 KEEP 0 3 103 128 4012 AA 1 1 0 - 11 60 402 0 0 25.600857 253 60 9251 509 ENST00000404537.1 0.041667 1 OBSL1 23363 __UNKNOWN__ __UNKNOWN__ 2 220430203 220430203 __UNKNOWN__ Missense_Mutation SNP C C T rs1039898 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:220430203C>T ENST00000404537.1 - 6 2224 c.2168G>A c.(2167-2169)aGg>aAg p.R723K OBSL1_ENST00000603926.1_Missense_Mutation_p.R723K|OBSL1_ENST00000373873.4_Missense_Mutation_p.R723K|OBSL1_ENST00000373876.1_Missense_Mutation_p.R723K|OBSL1_ENST00000265318.4_Missense_Mutation_p.R723K|OBSL1_ENST00000289656.3_Missense_Mutation_p.R310K NM_015311.2 NP_056126.1 O75147 OBSL1_HUMAN obscurin-like 1 723 Ig-like 5. NA R -> K (in Ref. 3; AAH07201 and 4; BAA31632). {ECO:0000305}. cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088) 3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018) cytoskeletal adaptor activity (GO:0008093) NA Renal(207;0.0376) Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834) CAACGACACCCTGTCCTGGGG 0.597 NA OREG0003987 type=REGULATORY REGION|Gene=BC061909|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay T||| 3970 0.792732 0.5847 0.8228 5008 , , NA 18382 0.9038 NA 0.9066 False NA ,,, NA NA NA 2504 0.8211 NA NA NA NA 0 T LYS/ARG,LYS/ARG,LYS/ARG 2746,1340 936,874,233 83 83 83 2168,2168,2168 2.1 0.5 2 dbSNP_86 83 7582,802 3421,740,31 yes missense,missense,missense OBSL1 NM_001173408.1,NM_001173431.1,NM_015311.2 26,26,26 4357,1614,264 TT,TC,CC 9.5658,32.7949,17.1772 benign,benign,benign 723/1026,723/1544,723/1897 220430203 10328,2142 2043 4192 6235 SO:0001583 missense BC007201 CCDS46520.1, CCDS54433.1, CCDS63134.1 2q35 2013-01-29 ENSG00000124006 ENSG00000124006 23363 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 29092 protein-coding gene gene with protein product 610991 NA 9734811 Standard NM_015311 NA Approved KIAA0657 uc010fwk.3 O75147 OTTHUMG00000059157 ENST00000404537.1:c.2168G>A chr2.hg19:g.220430203C>T ENSP00000385636:p.Arg723Lys 2266 A4KVA4|A4KVA5|Q96IW3|S4R3M6 hg19 CCDS46520.1 0.02 12.422069 ACCxTGT COVERED 1801 0.8246336996336996 297 0.6036585365853658 307 0.8480662983425414 509 0.8898601398601399 688 0.9076517150395779 T 1.322 -0.599200 0.03744 0.672051 0.904342 ENSG00000124006 ENST00000265318;ENST00000404537;ENST00000373876;ENST00000373873;ENST00000289656 T;T;T;T;T 0.57107 0.65;0.57;0.55;0.42;0.9 5.95 2.12 0.27331 Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1); . . . . T 0.00012 0.0000 N 0.03115 -0.41 0.80722 P 0.0 B;B;B;B 0.02656 0.0;0.0;0.0;0.0 B;B;B;B 0.04013 0.001;0.001;0.0;0.001 T 0.40232 -0.9574 8 0.02654 T 1 . 6.5785 0.22581 0.0:0.1931:0.1188:0.688 rs1039898;rs52796284;rs58420370;rs1039898 724;723;310;723 A4KVA4;O75147;A8MSZ8;O75147-2 .;OBSL1_HUMAN;.;. K 723;723;723;723;310 ENSP00000265318:R723K;ENSP00000385636:R723K;ENSP00000362983:R723K;ENSP00000362980:R723K;ENSP00000289656:R310K ENSP00000265318:R723K R - 2 0 OBSL1 220138447 0.000000 0.05858 0.507000 0.27676 0.149000 0.21700 -0.120000 0.10660 -0.096000 0.12329 -0.254000 0.11334 AGG NOVEL OBSL1-014 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322012.1 3 11.514909 KEEP 0 5 165 96 3462 CC 1 1 0 - 15 60 540 0 0 34.894608 304 60 11411 495 ENST00000404537.1 0.047022 1 OBSL1 23363 __UNKNOWN__ __UNKNOWN__ 2 220432348 220432348 __UNKNOWN__ Intron SNP C C T rs79510852 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:220432348C>T ENST00000404537.1 - 4 1591 OBSL1_ENST00000603926.1_Intron|OBSL1_ENST00000373873.4_Intron|OBSL1_ENST00000373876.1_Intron|OBSL1_ENST00000265318.4_Intron|OBSL1_ENST00000289656.3_Intron NM_015311.2 NP_056126.1 O75147 OBSL1_HUMAN obscurin-like 1 NA NA cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088) 3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018) cytoskeletal adaptor activity (GO:0008093) NA Renal(207;0.0376) Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834) CTCCACAGCCCTTCCACCTTA 0.587 NA C||| 92 0.0183706 0.0 0.0303 5008 , , NA 17541 0.0675 NA 0.001 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 15 21 19 NA NA 2 NA 220432348 1229 2217 3446 SO:0001627 intron_variant BC007201 CCDS46520.1, CCDS54433.1, CCDS63134.1 2q35 2013-01-29 ENSG00000124006 ENSG00000124006 23363 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 29092 protein-coding gene gene with protein product 610991 NA 9734811 Standard NM_015311 NA Approved KIAA0657 uc010fwk.3 O75147 OTTHUMG00000059157 ENST00000404537.1:c.1535-51G>A chr2.hg19:g.220432348C>T NA A4KVA4|A4KVA5|Q96IW3|S4R3M6 hg19 CCDS46520.1 0.02 4.493268 GCCxTTC COVERED NOVEL OBSL1-014 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322012.1 3 7.223102 KEEP 0 0 0 24 844 CC 0.999909 0.999904 0 - 5 60 190 0 0 12.515531 107 60 3920 150 ENST00000404537.1 0.044643 0.999995 OBSL1 23363 __UNKNOWN__ __UNKNOWN__ 2 220435034 220435034 __UNKNOWN__ Silent SNP A A G rs199836245|rs10180675 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:220435034A>G ENST00000404537.1 - 1 977 c.921T>C c.(919-921)ctT>ctC p.L307L OBSL1_ENST00000603926.1_Silent_p.L307L|OBSL1_ENST00000373873.4_Silent_p.L307L|OBSL1_ENST00000373876.1_Silent_p.L307L|OBSL1_ENST00000265318.4_Silent_p.L307L|INHA_ENST00000489456.1_Intron|OBSL1_ENST00000289656.3_Intron NM_015311.2 NP_056126.1 O75147 OBSL1_HUMAN obscurin-like 1 307 Ig-like 3. NA cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088) 3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018) cytoskeletal adaptor activity (GO:0008093) NA Renal(207;0.0376) Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834) CCTGGCAGTAAAGCACCTTGA 0.697 NA G||| 3923 0.783347 0.5507 0.8242 5008 , , NA 12830 0.9028 NA 0.9076 False NA ,,, NA NA NA 2504 0.818 NA NA NA NA 0 G ,, 2676,1432 884,908,262 28 32 31 921,921,921 -1.8 1 2 dbSNP_119 31 7537,797 3402,733,32 no coding-synonymous,coding-synonymous,coding-synonymous OBSL1 NM_001173408.1,NM_001173431.1,NM_015311.2 ,, 4286,1641,294 GG,GA,AA 9.5632,34.8588,17.9151 ,, 307/1026,307/1544,307/1897 220435034 10213,2229 2054 4167 6221 SO:0001819 synonymous_variant BC007201 CCDS46520.1, CCDS54433.1, CCDS63134.1 2q35 2013-01-29 ENSG00000124006 ENSG00000124006 23363 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 29092 protein-coding gene gene with protein product 610991 NA 9734811 Standard NM_015311 NA Approved KIAA0657 uc010fwk.3 O75147 OTTHUMG00000059157 ENST00000404537.1:c.921T>C chr2.hg19:g.220435034A>G NA A4KVA4|A4KVA5|Q96IW3|S4R3M6 hg19 CCDS46520.1 0.02 31.831015 GTAxAGC COVERED NOVEL OBSL1-014 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322012.1 5 88.726282 KEEP 0 11 387 430 13174 AA 1 1 0 - 41 60 1566 0 0 108.514288 654 60 23402 1467 ENST00000404537.1 0.058993 1 OBSL1 23363 __UNKNOWN__ __UNKNOWN__ 2 220435104 220435104 __UNKNOWN__ Missense_Mutation SNP C C T rs200780633 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:220435104C>T ENST00000404537.1 - 1 907 c.851G>A c.(850-852)cGc>cAc p.R284H OBSL1_ENST00000603926.1_Missense_Mutation_p.R284H|OBSL1_ENST00000373873.4_Missense_Mutation_p.R284H|OBSL1_ENST00000373876.1_Missense_Mutation_p.R284H|OBSL1_ENST00000265318.4_Missense_Mutation_p.R284H|INHA_ENST00000489456.1_Intron|OBSL1_ENST00000289656.3_Intron NM_015311.2 NP_056126.1 O75147 OBSL1_HUMAN obscurin-like 1 284 Ig-like 3. NA cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088) 3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018) cytoskeletal adaptor activity (GO:0008093) NA Renal(207;0.0376) Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834) GAGCAGCGGGCGGCCCTCCCA 0.667 NA C||| 5 0.000998403 0.0 0.0 5008 , , NA 11508 0.005 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 23 30 28 NA NA 2 NA 220435104 2024 4153 6177 SO:0001583 missense BC007201 CCDS46520.1, CCDS54433.1, CCDS63134.1 2q35 2013-01-29 ENSG00000124006 ENSG00000124006 23363 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 29092 protein-coding gene gene with protein product 610991 NA 9734811 Standard NM_015311 NA Approved KIAA0657 uc010fwk.3 O75147 OTTHUMG00000059157 ENST00000404537.1:c.851G>A chr2.hg19:g.220435104C>T ENSP00000385636:p.Arg284His NA A4KVA4|A4KVA5|Q96IW3|S4R3M6 hg19 CCDS46520.1 0.02 22.035235 GGGxGGC COVERED 3 0.0013736263736263737 0 0.0 0 0.0 3 0.005244755244755245 0 0.0 C 20.2 3.946544 0.73672 . . ENSG00000124006 ENST00000265318;ENST00000404537;ENST00000373876;ENST00000373873 T;T;T;T 0.72167 -0.63;-0.63;-0.63;-0.63 4.25 1.41 0.22369 Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1); . . . . T 0.64864 0.2637 L 0.37561 1.115 0.80722 D 1 D;D 0.89917 0.994;1.0 D;D 0.68039 0.931;0.955 T 0.65998 -0.6032 9 0.51188 T 0.08 . 7.1726 0.25726 0.0:0.5902:0.0:0.4098 . 284;284 O75147;O75147-2 OBSL1_HUMAN;. H 284 ENSP00000265318:R284H;ENSP00000385636:R284H;ENSP00000362983:R284H;ENSP00000362980:R284H ENSP00000265318:R284H R - 2 0 OBSL1 220143348 0.000000 0.05858 1.000000 0.80357 0.987000 0.75469 0.059000 0.14322 0.528000 0.28580 0.407000 0.27541 CGC NOVEL OBSL1-014 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322012.1 1 108.273976 KEEP 0 0 0 360 12156 CC 1 1 0 - 27 60 925 0 0 58.890794 514 60 16929 1179 ENST00000404537.1 0.049908 1 INHA 3623 __UNKNOWN__ __UNKNOWN__ 2 220436973 220436973 __UNKNOWN__ 5'UTR SNP A A G rs11893842 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:220436973A>G ENST00000243786.2 + 0 57 INHA_ENST00000489456.1_Intron NM_002191.3 NP_002182.1 P05111 INHA_HUMAN inhibin, alpha NA NA cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|erythrocyte differentiation (GO:0030218)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|ovarian follicle development (GO:0001541)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|regulation of cell cycle (GO:0051726)|regulation of cell proliferation (GO:0042127)|response to external stimulus (GO:0009605)|signal transduction (GO:0007165)|skeletal system development (GO:0001501) extracellular region (GO:0005576)|inhibin A complex (GO:0043512)|inhibin-betaglycan-ActRII complex (GO:0034673)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750) cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|receptor binding (GO:0005102) large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1) 10 Renal(207;0.0183) Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802) GGAAGACTGGATGAGAAGGGT 0.627 NA OREG0003990|OREG0003991 type=REGULATORY REGION|Gene=BC045558|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|Gene=INHA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay G||| 2108 0.420927 0.4077 0.4986 5008 , , NA 15003 0.3938 NA 0.4453 False NA ,,, NA NA NA 2504 0.3865 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant CCDS2444.1 2q35 2013-09-19 ENSG00000123999 ENSG00000123999 3623 6065 protein-coding gene gene with protein product 147380 NA 3345731 Standard NM_002191 NA Approved uc002vmk.2 P05111 OTTHUMG00000059237 ENST00000243786.2:c.-124A>G chr2.hg19:g.220436973A>G 2266 A8K8H5 hg19 CCDS2444.1 0.02 1.819361 TGGxTGA COVERED NOVEL INHA-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000131425.1 0 14.442803 KEEP 0 0 0 48 1480 AA 1 0.999956 0 + 7 60 254 0 0 17.759629 92 60 3255 183 ENST00000243786.2 0.070707 0.999956 STK11IP 114790 __UNKNOWN__ __UNKNOWN__ 2 220473355 220473355 __UNKNOWN__ Missense_Mutation SNP G G A rs673951 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:220473355G>A ENST00000456909.1 + 15 1744 c.1654G>A c.(1654-1656)Gta>Ata p.V552I STK11IP_ENST00000295641.10_Missense_Mutation_p.V563I Q8N1F8 S11IP_HUMAN serine/threonine kinase 11 interacting protein 563 Glu-rich. NA protein localization (GO:0008104) cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765) protein kinase binding (GO:0019901) breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1) 23 Renal(207;0.0183) Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GCCTGAGGGCGTACGGGGCAG 0.602 NA G||| 1755 0.350439 0.0272 0.3919 5008 , , NA 17351 0.6825 NA 0.3598 False NA ,,, NA NA NA 2504 0.4059 NA NA NA NA 0 G ILE/VAL 292,3702 11,270,1716 52 57 55 1687 0.5 0 2 dbSNP_83 55 2801,5485 461,1879,1803 yes missense STK11IP NM_052902.2 29 472,2149,3519 AA,AG,GG 33.804,7.311,25.1873 benign 563/1100 220473355 3093,9187 1997 4143 6140 SO:0001583 missense AF450267 CCDS46521.1 2q35 2008-06-03 ENSG00000144589 ENSG00000144589 114790 19184 protein-coding gene gene with protein product LKB1 interacting protein 607172 NA 11741830 Standard NM_052902 NM_052902 NA Approved LIP1, KIAA1898, LKB1IP, STK11IP1 uc002vml.3 Q8N1F8 OTTHUMG00000059239 ENST00000456909.1:c.1654G>A chr2.hg19:g.220473355G>A ENSP00000389383:p.Val552Ile NA Q8NAW9|Q8WXE4|Q96CN3|Q96PY9 hg19 0.02 3.994981 GGCxTAC COVERED 840 0.38461538461538464 18 0.036585365853658534 136 0.3756906077348066 407 0.7115384615384616 279 0.36807387862796836 G 2.879 -0.232288 0.05983 0.07311 0.33804 ENSG00000144589 ENST00000456909;ENST00000426736;ENST00000295641 T;T 0.05081 3.5;3.5 4.5 0.456 0.16655 . 0.943966 0.08791 N 0.893239 T 0.00012 0.0000 L 0.60455 1.87 0.80722 P 0.0 B;B 0.33022 0.035;0.394 B;B 0.28465 0.009;0.09 T 0.19582 -1.0301 9 0.20519 T 0.43 -1.1691 4.1782 0.10362 0.0846:0.2921:0.4728:0.1505 rs673951;rs734848;rs17853278;rs60175423;rs673951 563;563 Q8N1F8-2;Q8N1F8 .;S11IP_HUMAN I 552;531;563 ENSP00000389383:V552I;ENSP00000295641:V563I ENSP00000295641:V563I V + 1 0 STK11IP 220181599 0.000000 0.05858 0.001000 0.08648 0.029000 0.11900 -0.183000 0.09712 -0.102000 0.12197 -0.219000 0.12488 GTA NOVEL STK11IP-001 NOVEL basic|appris_principal protein_coding NA protein_coding OTTHUMT00000131432.1 0 29.49416 KEEP 0 0 0 98 3377 GG 1 1 0 + 11 60 401 0 0 28.407627 135 60 4712 314 ENST00000456909.1 0.075342 1 SLC4A3 6508 __UNKNOWN__ __UNKNOWN__ 2 220502137 220502137 __UNKNOWN__ Intron SNP C C T rs621515 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:220502137C>T ENST00000358055.3 + 17 3047 SLC4A3_ENST00000273063.6_Intron|SLC4A3_ENST00000373760.2_Intron|SLC4A3_ENST00000317151.3_Intron|SLC4A3_ENST00000373762.3_Intron P48751 B3A3_HUMAN solute carrier family 4 (anion exchanger), member 3 NA NA bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810) integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886) inorganic anion exchanger activity (GO:0005452) breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 51 Renal(207;0.0183) Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) tgtgtgtgttctgtgtgttct 0.453 NA C||| 3322 0.663339 0.4183 0.7824 5008 , , NA 21809 0.8065 NA 0.7604 False NA ,,, NA NA NA 2504 0.6626 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS2445.1, CCDS2446.1 2q35 2013-07-19 2013-07-19 ENSG00000114923 ENSG00000114923 6508 Solute carriers 11029 protein-coding gene gene with protein product Anion exchanger 3, neuronal 106195 solute carrier family 4, anion exchanger, member 3 NA 8001971 Standard NM_005070 NM_005070 NA Approved AE3, SLC2C uc002vmo.4 P48751 OTTHUMG00000059238 ENST00000358055.3:c.2536-166C>T chr2.hg19:g.220502137C>T NA A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9 hg19 CCDS2445.1 0.02 2.032321 GTTxTGT COVERED NOVEL SLC4A3-009 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000316472.1 0 3.009286 KEEP 0 0 0 10 325 CC 0.992708 0.963741 0 + 5 60 173 0 0 12.54041 47 60 1733 65 ENST00000358055.3 0.096154 0.97082 SLC4A3 6508 __UNKNOWN__ __UNKNOWN__ 2 220502367 220502367 __UNKNOWN__ Missense_Mutation SNP A A C rs635311 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:220502367A>C ENST00000358055.3 + 17 3112 c.2600A>C c.(2599-2601)gAt>gCt p.D867A SLC4A3_ENST00000273063.6_Missense_Mutation_p.D894A|SLC4A3_ENST00000373760.2_Missense_Mutation_p.D867A|SLC4A3_ENST00000317151.3_Missense_Mutation_p.D867A|SLC4A3_ENST00000373762.3_Missense_Mutation_p.D894A P48751 B3A3_HUMAN solute carrier family 4 (anion exchanger), member 3 867 Membrane (anion exchange). NA D -> A (in dbSNP:rs635311). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:7923606, ECO:0000269|Ref.6}. bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810) integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886) inorganic anion exchanger activity (GO:0005452) breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 51 Renal(207;0.0183) Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGGTCCCTGGATGCTGGTCTG 0.637 NA A||| 3393 0.677516 0.466 0.7925 5008 , , NA 16266 0.8065 NA 0.7624 False NA ,,, NA NA NA 2504 0.6616 NA NA NA NA 0 A ALA/ASP,ALA/ASP 2222,2184 586.9+/-386.6 565,1092,546 40 39 39 2600,2681 -2.3 0 2 dbSNP_83 39 6574,2026 716.8+/-406.1 2523,1528,249 no missense,missense SLC4A3 NM_005070.3,NM_201574.2 126,126 3088,2620,795 CC,CA,AA 23.5581,49.5688,32.3697 benign,benign 867/1233,894/1260 220502367 8796,4210 2203 4300 6503 SO:0001583 missense CCDS2445.1, CCDS2446.1 2q35 2013-07-19 2013-07-19 ENSG00000114923 ENSG00000114923 6508 Solute carriers 11029 protein-coding gene gene with protein product Anion exchanger 3, neuronal 106195 solute carrier family 4, anion exchanger, member 3 NA 8001971 Standard NM_005070 NM_005070 NA Approved AE3, SLC2C uc002vmo.4 P48751 OTTHUMG00000059238 ENST00000358055.3:c.2600A>C chr2.hg19:g.220502367A>C ENSP00000350756:p.Asp867Ala NA A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9 hg19 CCDS2445.1 0.02 12.293511 TGGxTGC COVERED 1575 0.7211538461538461 223 0.4532520325203252 274 0.7569060773480663 483 0.8444055944055944 595 0.7849604221635884 A 9.570 1.120745 0.20877 0.504312 0.764419 ENSG00000114923 ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000317151 T;T;T;T;T 0.77750 -1.12;-1.12;-1.12;-1.12;-1.12 4.54 -2.34 0.06704 Bicarbonate transporter, C-terminal (1); 3.632590 0.00357 N 0.000023 T 0.00012 0.0000 N 0.02158 -0.66 0.80722 P 0.0 B;B;B 0.02656 0.0;0.0;0.0 B;B;B 0.01281 0.0;0.0;0.0 T 0.45731 -0.9241 9 0.38643 T 0.18 . 2.1114 0.03703 0.2608:0.428:0.1724:0.1388 rs635311;rs60492639;rs635311 571;867;894 P48751-2;P48751;P48751-3 .;B3A3_HUMAN;. A 867;867;894;894;867 ENSP00000350756:D867A;ENSP00000362865:D867A;ENSP00000273063:D894A;ENSP00000362867:D894A;ENSP00000314006:D867A ENSP00000273063:D894A D + 2 0 SLC4A3 220210611 0.008000 0.16893 0.001000 0.08648 0.066000 0.16364 0.627000 0.24506 -0.231000 0.09825 0.451000 0.29950 GAT NOVEL SLC4A3-009 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000316472.1 1 5.292142 KEEP 0 5 185 82 2527 AA 1 1 0 + 20 60 752 0 0 54.281574 236 60 8454 437 ENST00000358055.3 0.078125 1 EPHA4 2043 __UNKNOWN__ __UNKNOWN__ 2 222308226 222308226 __UNKNOWN__ Silent SNP T T C rs10498111 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:222308226T>C ENST00000409854.1 - 10 1909 c.1875A>G c.(1873-1875)aaA>aaG p.K625K EPHA4_ENST00000281821.2_Silent_p.K625K|EPHA4_ENST00000392071.4_Silent_p.K574K|EPHA4_ENST00000409938.1_Silent_p.K625K P54764 EPHA4_HUMAN EPH receptor A4 625 Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}. NA adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317) axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211) ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Renal(207;0.0183) Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154) CTCCTATAACTTTTTCAATCT 0.403 NA T||| 448 0.0894569 0.1589 0.0879 5008 , , NA 19302 0.0863 NA 0.008 False NA ,,, NA NA NA 2504 0.0838 NA NA NA NA 0 T 600,3806 257.4+/-261.8 40,520,1643 148 131 137 1875 4.8 1 2 dbSNP_119 137 60,8540 36.9+/-92.0 1,58,4241 no coding-synonymous EPHA4 NM_004438.3 41,578,5884 CC,CT,TT 0.6977,13.6178,5.0746 625/987 222308226 660,12346 2203 4300 6503 SO:0001819 synonymous_variant L36645 CCDS2447.1 2q36.3 2013-02-11 2004-10-28 ENSG00000116106 ENSG00000116106 2043 2.7.10.1 EPH receptors, Sterile alpha motif (SAM) domain containing, Fibronectin type III domain containing 3388 protein-coding gene gene with protein product 602188 EphA4 TYRO1 NA 9267020 Standard NM_004438 NA Approved Hek8 uc002vmq.3 P54764 OTTHUMG00000133142 ENST00000409854.1:c.1875A>G chr2.hg19:g.222308226T>C NA A8K2P1|B2R601|B7Z6Q8|Q2M380 hg19 0.02 11.437958 AACxTTT COVERED NOVEL EPHA4-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000332696.2 4 27.082944 KEEP 0 0 0 90 2871 TT 1 1 0 - 13 60 482 0 0 31.464073 272 60 10111 478 ENST00000409854.1 0.045614 1 EPHA4 2043 __UNKNOWN__ __UNKNOWN__ 2 222320427 222320427 __UNKNOWN__ Intron SNP G G A rs2288627 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:222320427G>A ENST00000409854.1 - 8 1638 EPHA4_ENST00000281821.2_Intron|EPHA4_ENST00000392071.4_Intron|EPHA4_ENST00000409938.1_Intron P54764 EPHA4_HUMAN EPH receptor A4 NA NA adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317) axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211) ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Renal(207;0.0183) Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154) GTCTTAGGAGGTAGAACTTCT 0.468 NA G||| 3423 0.683506 0.6536 0.6715 5008 , , NA 16831 0.6607 NA 0.7197 False NA ,,, NA NA NA 2504 0.7188 NA NA NA NA 0 G 3030,1374 1049,932,221 40 39 40 -0.7 0 2 dbSNP_100 40 6304,2292 2295,1714,289 no intron EPHA4 NM_004438.3 3344,2646,510 AA,AG,GG 26.6636,31.1989,28.2 222320427 9334,3666 2202 4298 6500 SO:0001627 intron_variant L36645 CCDS2447.1 2q36.3 2013-02-11 2004-10-28 ENSG00000116106 ENSG00000116106 2043 2.7.10.1 EPH receptors, Sterile alpha motif (SAM) domain containing, Fibronectin type III domain containing 3388 protein-coding gene gene with protein product 602188 EphA4 TYRO1 NA 9267020 Standard NM_004438 NA Approved Hek8 uc002vmq.3 P54764 OTTHUMG00000133142 ENST00000409854.1:c.1604-49C>T chr2.hg19:g.222320427G>A NA A8K2P1|B2R601|B7Z6Q8|Q2M380 hg19 0.02 8.448159 GAGxTAG COVERED NOVEL EPHA4-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000332696.2 3 14.145738 KEEP 0 0 0 47 1670 GG 1 1 0 - 7 60 261 0 0 15.708065 233 60 8579 352 ENST00000409854.1 0.029167 1 PAX3 5077 __UNKNOWN__ __UNKNOWN__ 2 223160203 223160203 __UNKNOWN__ Intron SNP C C A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:223160203C>A ENST00000409551.3 - 3 728 PAX3_ENST00000344493.4_Intron|PAX3_ENST00000350526.4_Intron|PAX3_ENST00000258387.5_Intron|PAX3_ENST00000336840.6_Intron|PAX3_ENST00000409828.3_Intron|PAX3_ENST00000392070.2_Intron|PAX3_ENST00000392069.2_Intron P23760 PAX3_HUMAN paired box 3 NA NA apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|mammary gland specification (GO:0060594)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of somitogenesis (GO:0014807)|sensory perception of sound (GO:0007605)|spinal cord association neuron differentiation (GO:0021527)|transcription from RNA polymerase II promoter (GO:0006366) nucleus (GO:0005634) chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749) NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 38 Renal(207;0.0183) Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGGGTAATAGCGACTGACTGT 0.557 NA T FOXO1A, NCOA1 alveolar rhabdomyosarcoma Waardenburg syndrome; craniofacial-deafness-hand syndrome NA NA NA NA NA NA NA NA NA Dom yes 2 2q35 5077 paired box gene 3 yes M 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS2449.1, CCDS2450.1, CCDS2451.1, CCDS42825.1, CCDS2448.1, CCDS42826.1, CCDS46522.1, CCDS46523.1 2q36.1 2011-06-20 2007-07-12 ENSG00000135903 ENSG00000135903 5077 Paired boxes, Homeoboxes / PRD class 8617 protein-coding gene gene with protein product 606597 Waardenburg syndrome 1, paired box gene 3 (Waardenburg syndrome 1) WS1 NA 1347149 Standard NM_181461 NA Approved HUP2 uc002vmt.2 P23760 OTTHUMG00000133157 ENST00000409551.3:c.448+43G>T chr2.hg19:g.223160203C>A NA G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3 hg19 CCDS46522.1 0.02 2.272478 TAGxGAC COVERED NOVEL PAX3-009 KNOWN basic|appris_candidate|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000375096.1 0 5.163694 KEEP 0 1 9 21 500 CC 0.999879 0.999879 0 - 20 60 261 0 0 12.360424 111 60 2578 169 ENST00000409551.3 0.152672 1 WDFY1 57590 __UNKNOWN__ __UNKNOWN__ 2 224740332 224740332 __UNKNOWN__ 3'UTR SNP A A T rs3187727 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:224740332A>T ENST00000233055.4 - 0 4391 WDFY1_ENST00000462702.1_Intron NM_020830.3 NP_065881.1 Q8IWB7 WDFY1_HUMAN WD repeat and FYVE domain containing 1 NA NA cytosol (GO:0005829)|early endosome (GO:0005769)|nucleus (GO:0005634) 1-phosphatidylinositol binding (GO:0005545)|zinc ion binding (GO:0008270) NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2) 18 all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189) Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843) CAACTTACTCAAAGAGTTATT 0.299 NA A||| 500 0.0998403 0.0038 0.1239 5008 , , NA 19440 0.1319 NA 0.0944 False NA ,,, NA NA NA 2504 0.1851 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB037856 CCDS33387.1 2q36.2 2013-01-09 2003-03-13 ENSG00000085449 ENSG00000085449 57590 Zinc fingers, FYVE domain containing, WD repeat domain containing 20451 protein-coding gene gene with protein product WD40 and FYVE domain containing 1 NA 11739631 Standard NM_020830 NM_020830 NA Approved KIAA1435, FENS-1, WDF1, ZFYVE17 uc002vnq.3 Q8IWB7 OTTHUMG00000153370 ENST00000233055.4:c.*3056T>A chr2.hg19:g.224740332A>T NA Q53S17|Q9H9D5|Q9P2B3 hg19 CCDS33387.1 0.02 6.82219 CTCxAAG COVERED NOVEL WDFY1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000330908.1 3 8.709857 KEEP 0 0 0 29 872 AA 0.999997 0.999997 0 - 13 60 477 0 0 33.411556 174 60 6271 239 ENST00000233055.4 0.069519 1 WDFY1 57590 __UNKNOWN__ __UNKNOWN__ 2 224743373 224743373 __UNKNOWN__ 3'UTR SNP C C T rs571111 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:224743373C>T ENST00000233055.4 - 0 1350 WDFY1_ENST00000462702.1_5'UTR NM_020830.3 NP_065881.1 Q8IWB7 WDFY1_HUMAN WD repeat and FYVE domain containing 1 NA NA cytosol (GO:0005829)|early endosome (GO:0005769)|nucleus (GO:0005634) 1-phosphatidylinositol binding (GO:0005545)|zinc ion binding (GO:0008270) NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2) 18 all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189) Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843) GTGTGGACGCCGCCCAGCTCT 0.537 NA C||| 1984 0.396166 0.3722 0.4337 5008 , , NA 15088 0.1915 NA 0.5298 False NA ,,, NA NA NA 2504 0.4755 NA NA NA NA 0 C 1748,2658 521.4+/-370.5 338,1072,793 45 46 46 -0.5 0 2 dbSNP_83 46 4617,3983 600.3+/-394.2 1253,2111,936 no utr-3 WDFY1 NM_020830.3 1591,3183,1729 TT,TC,CC 46.314,39.6732,48.939 224743373 6365,6641 2203 4300 6503 SO:0001624 3_prime_UTR_variant AB037856 CCDS33387.1 2q36.2 2013-01-09 2003-03-13 ENSG00000085449 ENSG00000085449 57590 Zinc fingers, FYVE domain containing, WD repeat domain containing 20451 protein-coding gene gene with protein product WD40 and FYVE domain containing 1 NA 11739631 Standard NM_020830 NM_020830 NA Approved KIAA1435, FENS-1, WDF1, ZFYVE17 uc002vnq.3 Q8IWB7 OTTHUMG00000153370 ENST00000233055.4:c.*15G>A chr2.hg19:g.224743373C>T NA Q53S17|Q9H9D5|Q9P2B3 hg19 CCDS33387.1 0.02 18.730401 CGCxGCC COVERED NOVEL WDFY1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000330908.1 3 13.678741 KEEP 0 1 33 57 1955 CC 1 1 0 - 33 60 1219 0 0 87.92151 374 60 13351 562 ENST00000233055.4 0.081081 1 SERPINE2 5270 __UNKNOWN__ __UNKNOWN__ 2 224862700 224862700 __UNKNOWN__ Intron SNP C C A rs36034130 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:224862700C>A ENST00000409840.3 - 4 1148 SERPINE2_ENST00000258405.4_Intron|SERPINE2_ENST00000409304.1_Intron|SERPINE2_ENST00000447280.2_Intron P07093 GDN_HUMAN serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2 NA NA blood coagulation (GO:0007596)|cerebellar granular layer morphogenesis (GO:0021683)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|innervation (GO:0060384)|long-term synaptic potentiation (GO:0060291)|mating plug formation (GO:0042628)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein processing (GO:0010955)|negative regulation of proteolysis (GO:0045861)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of sodium ion transport (GO:0010766)|positive regulation of astrocyte differentiation (GO:0048711)|regulation of cell migration (GO:0030334)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of timing of cell differentiation (GO:0048505)|secretion by cell (GO:0032940)|secretory granule organization (GO:0033363)|seminal vesicle epithelium development (GO:0061108) cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|neuromuscular junction (GO:0031594)|platelet alpha granule (GO:0031091)|vesicle (GO:0031982) glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867) breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1) 17 Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797) Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902) CTGAATAGAGCTTCCTTGGTC 0.493 NA C||| 631 0.125998 0.1899 0.1441 5008 , , NA 21183 0.0258 NA 0.0885 False NA ,,, NA NA NA 2504 0.1687 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M17783 CCDS2460.1, CCDS46525.1, CCDS46526.1 2q36.1 2014-02-18 2005-08-18 ENSG00000135919 ENSG00000135919 5270 Serine (or cysteine) peptidase inhibitors 8951 protein-coding gene gene with protein product glial-derived nexin 1 177010 serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2 PI7 NA 7665170, 24172014 Standard NM_006216 NM_006216 NA Approved PN1, GDN, PNI, nexin uc002vnu.2 P07093 OTTHUMG00000133163 ENST00000409840.3:c.487+131G>T chr2.hg19:g.224862700C>A NA B2R6A4|B4DIF2|Q53S15|Q5D0C4 hg19 CCDS46526.1 0.02 8.471487 GAGxTTC COVERED NOVEL SERPINE2-003 NOVEL alternative_5_UTR|basic|appris_candidate|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000330900.1 0 5.718239 KEEP 0 0 0 19 655 CC 0.99986 0.99986 0 - 11 60 370 0 0 23.391936 215 60 7861 257 ENST00000409840.3 0.048673 1 FAM124B 79843 __UNKNOWN__ __UNKNOWN__ 2 225264619 225264619 __UNKNOWN__ Intron SNP G G A rs7569573 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:225264619G>A ENST00000409685.3 - 1 998 FAM124B_ENST00000243806.2_3'UTR|FAM124B_ENST00000389874.3_Intron NM_001122779.1 NP_001116251.1 Q9H5Z6 F124B_HUMAN family with sequence similarity 124B NA NA endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 16 Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138) Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825) AGAGGAAGATGCTAATTCTCG 0.393 NA G||| 650 0.129792 0.2201 0.0807 5008 , , NA 17644 0.001 NA 0.1531 False NA ,,, NA NA NA 2504 0.1513 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK075126 CCDS2461.1, CCDS46527.1 2q36.2 2008-02-05 ENSG00000124019 ENSG00000124019 79843 26224 protein-coding gene gene with protein product NA 12477932 Standard NM_024785 NM_001122779 NA Approved FLJ22746 uc002vnx.3 Q9H5Z6 OTTHUMG00000133168 ENST00000409685.3:c.732+1134C>T chr2.hg19:g.225264619G>A NA A6NNC7|Q8NBZ4|Q8TAV7 hg19 CCDS46527.1 0.02 8.57202 GATxCTA COVERED NOVEL FAM124B-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000330873.1 2 8.126184 KEEP 0 0 0 27 953 GG 0.999988 0.999988 0 - 12 60 426 0 0 27.75213 224 60 8517 312 ENST00000409685.3 0.050847 1 FAM124B 79843 __UNKNOWN__ __UNKNOWN__ 2 225266667 225266667 __UNKNOWN__ 5'UTR SNP G G A rs3845837 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:225266667G>A ENST00000409685.3 - 0 84 FAM124B_ENST00000243806.2_5'UTR|FAM124B_ENST00000389874.3_5'UTR NM_001122779.1 NP_001116251.1 Q9H5Z6 F124B_HUMAN family with sequence similarity 124B NA NA endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 16 Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138) Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825) GTGGACTTACGGCAAGAGAAG 0.577 NA G||| 654 0.130591 0.2209 0.0807 5008 , , NA 17610 0.001 NA 0.1571 False NA ,,, NA NA NA 2504 0.1503 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AK075126 CCDS2461.1, CCDS46527.1 2q36.2 2008-02-05 ENSG00000124019 ENSG00000124019 79843 26224 protein-coding gene gene with protein product NA 12477932 Standard NM_024785 NM_001122779 NA Approved FLJ22746 uc002vnx.3 Q9H5Z6 OTTHUMG00000133168 ENST00000409685.3:c.-182C>T chr2.hg19:g.225266667G>A NA A6NNC7|Q8NBZ4|Q8TAV7 hg19 CCDS46527.1 0.02 9.390396 TACxGCA COVERED NOVEL FAM124B-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000330873.1 1 12.33936 KEEP 0 0 0 41 1400 GG 1 1 0 - 10 60 383 0 0 25.57349 202 60 7226 305 ENST00000409685.3 0.04717 1 FAM124B 79843 __UNKNOWN__ __UNKNOWN__ 2 225266725 225266725 __UNKNOWN__ 5'UTR SNP C C T rs3845838 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:225266725C>T ENST00000409685.3 - 0 26 FAM124B_ENST00000243806.2_5'UTR NM_001122779.1 NP_001116251.1 Q9H5Z6 F124B_HUMAN family with sequence similarity 124B NA NA endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 16 Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138) Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825) ACAGCAGCAGCGGGGTCACGT 0.537 NA T||| 662 0.132188 0.2292 0.0807 5008 , , NA 18150 0.001 NA 0.1541 False NA ,,, NA NA NA 2504 0.1503 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AK075126 CCDS2461.1, CCDS46527.1 2q36.2 2008-02-05 ENSG00000124019 ENSG00000124019 79843 26224 protein-coding gene gene with protein product NA 12477932 Standard NM_024785 NM_001122779 NA Approved FLJ22746 uc002vnx.3 Q9H5Z6 OTTHUMG00000133168 ENST00000409685.3:c.-240G>A chr2.hg19:g.225266725C>T NA A6NNC7|Q8NBZ4|Q8TAV7 hg19 CCDS46527.1 0.02 6.437179 CAGxGGG COVERED NOVEL FAM124B-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000330873.1 1 10.366158 KEEP 0 1 27 44 1530 CC 1 1 0 - 7 60 253 0 0 15.901653 167 60 5761 272 ENST00000409685.3 0.04023 1 DOCK10 55619 __UNKNOWN__ __UNKNOWN__ 2 225649420 225649420 __UNKNOWN__ Intron SNP T T A rs112606595 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:225649420T>A ENST00000258390.7 - 50 5723 DOCK10_ENST00000409592.3_Intron NM_014689.2 NP_055504.2 Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 NA NA regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264) extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) Rho guanyl-nucleotide exchange factor activity (GO:0005089) NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) TGTTAGAGCATGCAAATGGAG 0.398 NA T||| 120 0.0239617 0.0038 0.0259 5008 , , NA 20806 0.0 NA 0.0557 False NA ,,, NA NA NA 2504 0.0419 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB014594 CCDS46528.1, CCDS74661.1 2q36.3 2013-01-10 ENSG00000135905 ENSG00000135905 55619 Pleckstrin homology (PH) domain containing 23479 protein-coding gene gene with protein product zizimin3 611518 NA 12432077 Standard NM_014689 NA Approved ZIZ3, KIAA0694 uc010fwz.1 Q96BY6 OTTHUMG00000153428 ENST00000258390.7:c.5655+2318A>T chr2.hg19:g.225649420T>A NA B3FL70|O75178|Q9NW06|Q9NXI8 hg19 CCDS46528.1 0.02 13.959546 GCAxGCA COVERED NOVEL DOCK10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000331246.1 1 18.589792 KEEP 0 1 32 73 2307 TT 1 1 0 - 15 60 568 0 0 38.034791 288 60 10686 499 ENST00000258390.7 0.049505 1 DOCK10 55619 __UNKNOWN__ __UNKNOWN__ 2 225669996 225669996 __UNKNOWN__ Silent SNP A A G rs4674940 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:225669996A>G ENST00000258390.7 - 36 4045 c.3978T>C c.(3976-3978)ttT>ttC p.F1326F DOCK10_ENST00000409592.3_Silent_p.F1320F NM_014689.2 NP_055504.2 Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 1326 NA regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264) extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) Rho guanyl-nucleotide exchange factor activity (GO:0005089) NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) CTAACTTGTCAAATCGAAGAG 0.393 NA G||| 424 0.0846645 0.2383 0.0447 5008 , , NA 20916 0.0 NA 0.0398 False NA ,,, NA NA NA 2504 0.0389 NA NA NA NA 0 G 667,3057 67,533,1262 138 132 133 3978 4.6 1 2 dbSNP_111 133 252,7932 8,236,3848 no coding-synonymous DOCK10 NM_014689.2 75,769,5110 GG,GA,AA 3.0792,17.9108,7.7175 1326/2187 225669996 919,10989 1862 4092 5954 SO:0001819 synonymous_variant AB014594 CCDS46528.1, CCDS74661.1 2q36.3 2013-01-10 ENSG00000135905 ENSG00000135905 55619 Pleckstrin homology (PH) domain containing 23479 protein-coding gene gene with protein product zizimin3 611518 NA 12432077 Standard NM_014689 NA Approved ZIZ3, KIAA0694 uc010fwz.1 Q96BY6 OTTHUMG00000153428 ENST00000258390.7:c.3978T>C chr2.hg19:g.225669996A>G NA B3FL70|O75178|Q9NW06|Q9NXI8 hg19 CCDS46528.1 0.02 13.073152 GTCxAAT COVERED 145 0.06639194139194139 96 0.1951219512195122 19 0.052486187845303865 0 0.0 30 0.0395778364116095 G 7.315 0.615829 0.14129 0.179108 0.030792 ENSG00000135905 ENST00000422684 . . . 5.74 4.58 0.56647 . . . . . T 0.00144 0.0004 . . . 0.09310 P 0.9999999999999993 . . . . . . T 0.00763 -1.1576 3 . . . . 14.174 0.65529 0.9361:0.0:0.0639:0.0 rs4674940;rs57043404;rs4674940 . . . S 208 . . L - 2 0 DOCK10 225378240 1.000000 0.71417 1.000000 0.80357 0.870000 0.49936 1.314000 0.33597 0.540000 0.28808 -1.195000 0.01675 TTG NOVEL DOCK10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000331246.1 1 21.062292 KEEP 0 0 0 70 2189 AA 1 1 0 - 14 60 494 0 0 31.24189 300 60 10988 462 ENST00000258390.7 0.044586 1 DOCK10 55619 __UNKNOWN__ __UNKNOWN__ 2 225670901 225670901 __UNKNOWN__ Missense_Mutation SNP G G C rs4674941 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:225670901G>C ENST00000258390.7 - 34 3823 c.3756C>G c.(3754-3756)atC>atG p.I1252M DOCK10_ENST00000409592.3_Missense_Mutation_p.I1246M NM_014689.2 NP_055504.2 Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 1252 NA regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264) extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) Rho guanyl-nucleotide exchange factor activity (GO:0005089) NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) TTGCATGTTTGATAGCTGTCT 0.353 NA C||| 1248 0.249201 0.6634 0.1196 5008 , , NA 19929 0.0228 NA 0.1501 False NA ,,, NA NA NA 2504 0.1166 NA NA NA NA 0 C MET/ILE 2089,1635 577,935,350 141 142 142 3756 6 1 2 dbSNP_111 142 1093,7089 80,933,3078 yes missense DOCK10 NM_014689.2 10 657,1868,3428 CC,CG,GG 13.3586,43.9044,26.726 benign 1252/2187 225670901 3182,8724 1862 4091 5953 SO:0001583 missense AB014594 CCDS46528.1, CCDS74661.1 2q36.3 2013-01-10 ENSG00000135905 ENSG00000135905 55619 Pleckstrin homology (PH) domain containing 23479 protein-coding gene gene with protein product zizimin3 611518 NA 12432077 Standard NM_014689 NA Approved ZIZ3, KIAA0694 uc010fwz.1 Q96BY6 OTTHUMG00000153428 ENST00000258390.7:c.3756C>G chr2.hg19:g.225670901G>C ENSP00000258390:p.Ile1252Met NA B3FL70|O75178|Q9NW06|Q9NXI8 hg19 CCDS46528.1 0.02 9.82492 TTTxATA COVERED 478|478 0.21886446886446886|0.21886446886446886 301|301 0.6117886178861789|0.6117886178861789 48|48 0.13259668508287292|0.13259668508287292 16|16 0.027972027972027972|0.027972027972027972 113|113 0.14907651715039577|0.14907651715039577 C|C 1.091|1.091 -0.664100|-0.664100 0.03428|0.03428 0.560956|0.560956 0.133586|0.133586 ENSG00000135905|ENSG00000135905 ENST00000409592;ENST00000258390|ENST00000422684 T;T|. 0.21734|. 1.99;1.99|. 5.96|5.96 5.96|5.96 0.96718|0.96718 .|. 0.088261|. 0.85682|. N|. 0.000000|. T|. 0.00012|. 0.0000|. N|N 0.00347|0.00347 -1.61|-1.61 0.49915|0.49915 P|P 1.64000000000053E-4|1.64000000000053E-4 B;B;B|. 0.02656|. 0.0;0.0;0.0|. B;B;B|. 0.01281|. 0.0;0.0;0.0|. T|. 0.29243|. -1.0018|. 9|. 0.08179|. T|. 0.78|. .|. 17.4358|17.4358 0.87552|0.87552 0.0:0.8755:0.1245:0.0|0.0:0.8755:0.1245:0.0 rs4674941;rs52829997;rs60007997;rs4674941|rs4674941;rs52829997;rs60007997;rs4674941 1252;115;1246|. Q96BY6;B4DF07;B3FL70|. DOC10_HUMAN;.;.|. M|X 1246;1252|143 ENSP00000386694:I1246M;ENSP00000258390:I1252M|. ENSP00000258390:I1252M|. I|S -|- 3|2 3|0 DOCK10|DOCK10 225379145|225379145 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.932000|0.932000 0.56968|0.56968 2.565000|2.565000 0.45939|0.45939 1.544000|1.544000 0.49359|0.49359 -0.120000|-0.120000 0.15030|0.15030 ATC|TCA NOVEL DOCK10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000331246.1 0 9.631634 KEEP 0 0 0 32 1145 GG 0.999997 0.999997 0 - 10 60 389 0 0 26.257511 198 60 7595 293 ENST00000258390.7 0.048077 1 DOCK10 55619 __UNKNOWN__ __UNKNOWN__ 2 225684166 225684166 __UNKNOWN__ Silent SNP A A G rs7572725 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:225684166A>G ENST00000258390.7 - 29 3331 c.3264T>C c.(3262-3264)ctT>ctC p.L1088L DOCK10_ENST00000409592.3_Silent_p.L1082L NM_014689.2 NP_055504.2 Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 1088 NA regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264) extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) Rho guanyl-nucleotide exchange factor activity (GO:0005089) NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) TTCTTACCTTAAGGTCACCGG 0.373 NA G||| 1250 0.249601 0.6641 0.1196 5008 , , NA 18217 0.0228 NA 0.1511 False NA ,,, NA NA NA 2504 0.1166 NA NA NA NA 0 G 2120,1644 587,946,349 109 106 107 3264 2 0.9 2 dbSNP_116 107 1089,7123 77,935,3094 no coding-synonymous DOCK10 NM_014689.2 664,1881,3443 GG,GA,AA 13.2611,43.6769,26.7953 1088/2187 225684166 3209,8767 1882 4106 5988 SO:0001819 synonymous_variant AB014594 CCDS46528.1, CCDS74661.1 2q36.3 2013-01-10 ENSG00000135905 ENSG00000135905 55619 Pleckstrin homology (PH) domain containing 23479 protein-coding gene gene with protein product zizimin3 611518 NA 12432077 Standard NM_014689 NA Approved ZIZ3, KIAA0694 uc010fwz.1 Q96BY6 OTTHUMG00000153428 ENST00000258390.7:c.3264T>C chr2.hg19:g.225684166A>G NA B3FL70|O75178|Q9NW06|Q9NXI8 hg19 CCDS46528.1 0.02 12.151043 CTTxAGG COVERED NOVEL DOCK10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000331246.1 2 21.364118 KEEP 0 0 0 71 2212 AA 1 1 0 - 11 60 423 0 0 27.550701 261 60 9557 434 ENST00000258390.7 0.040441 1 DOCK10 55619 __UNKNOWN__ __UNKNOWN__ 2 225684280 225684280 __UNKNOWN__ Intron SNP T T A rs201384029|rs530840529 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:225684280T>A ENST00000258390.7 - 29 3251 DOCK10_ENST00000409592.3_Intron NM_014689.2 NP_055504.2 Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 NA NA regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264) extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) Rho guanyl-nucleotide exchange factor activity (GO:0005089) NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) TTAAACACTTTTACTTGAAGA 0.244 NA T||| 301 0.0601038 0.149 0.0389 5008 , , NA 15334 0.0 NA 0.0388 False NA ,,, NA NA NA 2504 0.0389 NA NA NA NA 0 37 38 38 NA NA 2 NA 225684280 1781 4055 5836 SO:0001627 intron_variant AB014594 CCDS46528.1, CCDS74661.1 2q36.3 2013-01-10 ENSG00000135905 ENSG00000135905 55619 Pleckstrin homology (PH) domain containing 23479 protein-coding gene gene with protein product zizimin3 611518 NA 12432077 Standard NM_014689 NA Approved ZIZ3, KIAA0694 uc010fwz.1 Q96BY6 OTTHUMG00000153428 ENST00000258390.7:c.3184-34A>T chr2.hg19:g.225684280T>A NA B3FL70|O75178|Q9NW06|Q9NXI8 hg19 CCDS46528.1 0.02 1.62854 CTTxTAC COVERED NOVEL DOCK10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000331246.1 1 5.416429 KEEP 0 0 0 18 575 TT 0.999859 0.999807 0 - 5 60 179 0 0 11.712568 93 60 3235 121 ENST00000258390.7 0.05102 0.999948 DOCK10 55619 __UNKNOWN__ __UNKNOWN__ 2 225684281 225684281 __UNKNOWN__ Intron SNP T T A rs573712274 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:225684281T>A ENST00000258390.7 - 29 3251 DOCK10_ENST00000409592.3_Intron NM_014689.2 NP_055504.2 Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 NA NA regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264) extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) Rho guanyl-nucleotide exchange factor activity (GO:0005089) NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) TAAACACTTTTACTTGAAGAA 0.249 NA NA NA NA NA NA NA NA NA NA NA 0 35 37 36 NA NA 2 NA 225684281 1779 4054 5833 SO:0001627 intron_variant AB014594 CCDS46528.1, CCDS74661.1 2q36.3 2013-01-10 ENSG00000135905 ENSG00000135905 55619 Pleckstrin homology (PH) domain containing 23479 protein-coding gene gene with protein product zizimin3 611518 NA 12432077 Standard NM_014689 NA Approved ZIZ3, KIAA0694 uc010fwz.1 Q96BY6 OTTHUMG00000153428 ENST00000258390.7:c.3184-35A>T chr2.hg19:g.225684281T>A NA B3FL70|O75178|Q9NW06|Q9NXI8 hg19 CCDS46528.1 0.02 1.654827 TTTxACT COVERED NOVEL DOCK10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000331246.1 1 5.703586 KEEP 0 0 0 19 562 TT 0.99986 0.999779 0 - 5 60 180 0 0 11.881551 90 60 3196 119 ENST00000258390.7 0.052632 0.999919 DOCK10 55619 __UNKNOWN__ __UNKNOWN__ 2 225688100 225688100 __UNKNOWN__ Intron SNP G G A rs13431331 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:225688100G>A ENST00000258390.7 - 28 3251 DOCK10_ENST00000409592.3_Intron NM_014689.2 NP_055504.2 Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 NA NA regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264) extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) Rho guanyl-nucleotide exchange factor activity (GO:0005089) NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) GTTTTCATCTGACAGTGCTAG 0.313 NA A||| 1357 0.270966 0.6641 0.1513 5008 , , NA 19937 0.0228 NA 0.2525 False NA ,,, NA NA NA 2504 0.0992 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB014594 CCDS46528.1, CCDS74661.1 2q36.3 2013-01-10 ENSG00000135905 ENSG00000135905 55619 Pleckstrin homology (PH) domain containing 23479 protein-coding gene gene with protein product zizimin3 611518 NA 12432077 Standard NM_014689 NA Approved ZIZ3, KIAA0694 uc010fwz.1 Q96BY6 OTTHUMG00000153428 ENST00000258390.7:c.3183+117C>T chr2.hg19:g.225688100G>A NA B3FL70|O75178|Q9NW06|Q9NXI8 hg19 CCDS46528.1 0.02 6.5073 TCTxACA COVERED NOVEL DOCK10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000331246.1 0 6.313214 KEEP 0 0 0 21 729 GG 0.999869 0.999869 0 - 11 60 403 0 0 28.001928 154 60 5883 199 ENST00000258390.7 0.066667 1 DOCK10 55619 __UNKNOWN__ __UNKNOWN__ 2 225702565 225702565 __UNKNOWN__ Intron SNP G G A rs6724332 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:225702565G>A ENST00000258390.7 - 25 2848 DOCK10_ENST00000409592.3_Intron NM_014689.2 NP_055504.2 Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 NA NA regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264) extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) Rho guanyl-nucleotide exchange factor activity (GO:0005089) NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) AAGCAAAGCTGTTCAGTGGCC 0.433 NA G||| 1159 0.23143 0.5144 0.1412 5008 , , NA 19589 0.0228 NA 0.2535 False NA ,,, NA NA NA 2504 0.1053 NA NA NA NA 0 G 1812,1986 434,944,521 58 57 57 1 0 2 dbSNP_116 57 2005,6243 248,1509,2367 no intron DOCK10 NM_014689.2 682,2453,2888 AA,AG,GG 24.3089,47.7093,31.6869 225702565 3817,8229 1899 4124 6023 SO:0001627 intron_variant AB014594 CCDS46528.1, CCDS74661.1 2q36.3 2013-01-10 ENSG00000135905 ENSG00000135905 55619 Pleckstrin homology (PH) domain containing 23479 protein-coding gene gene with protein product zizimin3 611518 NA 12432077 Standard NM_014689 NA Approved ZIZ3, KIAA0694 uc010fwz.1 Q96BY6 OTTHUMG00000153428 ENST00000258390.7:c.2781-17C>T chr2.hg19:g.225702565G>A NA B3FL70|O75178|Q9NW06|Q9NXI8 hg19 CCDS46528.1 0.02 12.683597 GCTxTTC COVERED NOVEL DOCK10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000331246.1 0 22.272394 KEEP 0 0 0 74 2644 GG 1 1 0 - 16 60 598 0 0 39.27792 331 60 12523 525 ENST00000258390.7 0.04611 1 DOCK10 55619 __UNKNOWN__ __UNKNOWN__ 2 225709636 225709636 __UNKNOWN__ Intron SNP G G A rs11682884 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:225709636G>A ENST00000258390.7 - 22 2549 DOCK10_ENST00000409592.3_Intron NM_014689.2 NP_055504.2 Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 NA NA regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264) extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) Rho guanyl-nucleotide exchange factor activity (GO:0005089) NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) TTATGTTAATGTGCTGTTCTG 0.338 NA G||| 670 0.133786 0.3177 0.0519 5008 , , NA 22274 0.0218 NA 0.1133 False NA ,,, NA NA NA 2504 0.0798 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB014594 CCDS46528.1, CCDS74661.1 2q36.3 2013-01-10 ENSG00000135905 ENSG00000135905 55619 Pleckstrin homology (PH) domain containing 23479 protein-coding gene gene with protein product zizimin3 611518 NA 12432077 Standard NM_014689 NA Approved ZIZ3, KIAA0694 uc010fwz.1 Q96BY6 OTTHUMG00000153428 ENST00000258390.7:c.2482-80C>T chr2.hg19:g.225709636G>A NA B3FL70|O75178|Q9NW06|Q9NXI8 hg19 CCDS46528.1 0.02 8.289683 AATxTGC COVERED NOVEL DOCK10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000331246.1 1 5.417611 KEEP 0 0 0 18 633 GG 0.999859 0.999859 0 - 8 60 283 0 0 17.522486 193 60 7070 227 ENST00000258390.7 0.039801 1 DOCK10 55619 __UNKNOWN__ __UNKNOWN__ 2 225709926 225709926 __UNKNOWN__ Silent SNP A A G rs7577271 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:225709926A>G ENST00000258390.7 - 21 2542 c.2475T>C c.(2473-2475)agT>agC p.S825S DOCK10_ENST00000409592.3_Silent_p.S819S NM_014689.2 NP_055504.2 Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 825 DHR-1. NA regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264) extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) Rho guanyl-nucleotide exchange factor activity (GO:0005089) NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) ATACCTTTCCACTTGCAGAAT 0.348 NA G||| 904 0.180511 0.4818 0.0764 5008 , , NA 20059 0.0218 NA 0.1133 False NA ,,, NA NA NA 2504 0.0798 NA NA NA NA 0 G 1559,2147 325,909,619 72 65 67 2475 -1.3 1 2 dbSNP_116 67 840,7360 42,756,3302 no coding-synonymous DOCK10 NM_014689.2 367,1665,3921 GG,GA,AA 10.2439,42.0669,20.1495 825/2187 225709926 2399,9507 1853 4100 5953 SO:0001819 synonymous_variant AB014594 CCDS46528.1, CCDS74661.1 2q36.3 2013-01-10 ENSG00000135905 ENSG00000135905 55619 Pleckstrin homology (PH) domain containing 23479 protein-coding gene gene with protein product zizimin3 611518 NA 12432077 Standard NM_014689 NA Approved ZIZ3, KIAA0694 uc010fwz.1 Q96BY6 OTTHUMG00000153428 ENST00000258390.7:c.2475T>C chr2.hg19:g.225709926A>G NA B3FL70|O75178|Q9NW06|Q9NXI8 hg19 CCDS46528.1 0.02 14.813192 TCCxCTT COVERED NOVEL DOCK10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000331246.1 1 12.938883 KEEP 0 0 0 43 1348 AA 1 1 0 - 22 60 735 0 0 48.253759 332 60 12072 461 ENST00000258390.7 0.062147 1 DOCK10 55619 __UNKNOWN__ __UNKNOWN__ 2 225740593 225740593 __UNKNOWN__ Intron SNP T T C rs11891443 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:225740593T>C ENST00000258390.7 - 8 999 DOCK10_ENST00000409592.3_Intron NM_014689.2 NP_055504.2 Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 NA NA regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264) extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) Rho guanyl-nucleotide exchange factor activity (GO:0005089) NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) TGGCCATTACTGTGCAGTAAA 0.448 NA t||| 831 0.165935 0.4652 0.0548 5008 , , NA 18873 0.0208 NA 0.0865 False NA ,,, NA NA NA 2504 0.0716 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB014594 CCDS46528.1, CCDS74661.1 2q36.3 2013-01-10 ENSG00000135905 ENSG00000135905 55619 Pleckstrin homology (PH) domain containing 23479 protein-coding gene gene with protein product zizimin3 611518 NA 12432077 Standard NM_014689 NA Approved ZIZ3, KIAA0694 uc010fwz.1 Q96BY6 OTTHUMG00000153428 ENST00000258390.7:c.931+161A>G chr2.hg19:g.225740593T>C NA B3FL70|O75178|Q9NW06|Q9NXI8 hg19 CCDS46528.1 0.02 4.359327 TACxGTG COVERED NOVEL DOCK10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000331246.1 0 3.008019 KEEP 0 0 0 10 290 TT 0.992708 0.992708 0 - 7 60 259 0 0 16.959815 143 60 5255 165 ENST00000258390.7 0.046667 1 DOCK10 55619 __UNKNOWN__ __UNKNOWN__ 2 225750753 225750753 __UNKNOWN__ Intron SNP T T C rs10197805 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:225750753T>C ENST00000258390.7 - 6 680 DOCK10_ENST00000409592.3_Intron NM_014689.2 NP_055504.2 Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 NA NA regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264) extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) Rho guanyl-nucleotide exchange factor activity (GO:0005089) NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) GTGACAGAGATAAAGATGAGT 0.418 NA C||| 1123 0.224241 0.5272 0.0937 5008 , , NA 18907 0.0556 NA 0.1412 False NA ,,, NA NA NA 2504 0.1667 NA NA NA NA 0 C 1819,2049 432,955,547 30 32 31 -2 0 2 dbSNP_119 31 1242,7030 97,1048,2991 no intron DOCK10 NM_014689.2 529,2003,3538 CC,CT,TT 15.0145,47.0269,25.2142 225750753 3061,9079 1934 4136 6070 SO:0001627 intron_variant AB014594 CCDS46528.1, CCDS74661.1 2q36.3 2013-01-10 ENSG00000135905 ENSG00000135905 55619 Pleckstrin homology (PH) domain containing 23479 protein-coding gene gene with protein product zizimin3 611518 NA 12432077 Standard NM_014689 NA Approved ZIZ3, KIAA0694 uc010fwz.1 Q96BY6 OTTHUMG00000153428 ENST00000258390.7:c.612+26A>G chr2.hg19:g.225750753T>C NA B3FL70|O75178|Q9NW06|Q9NXI8 hg19 CCDS46528.1 0.02 2.34356 AGAxAAA COVERED NOVEL DOCK10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000331246.1 1 4.812074 KEEP 0 0 0 16 466 TT 0.997832 0.988815 0 - 7 60 253 0 0 19.149649 55 60 1964 92 ENST00000258390.7 0.112903 0.990964 DOCK10 55619 __UNKNOWN__ __UNKNOWN__ 2 225750861 225750861 __UNKNOWN__ Silent SNP C C T rs2304336 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:225750861C>T ENST00000258390.7 - 6 598 c.531G>A c.(529-531)gcG>gcA p.A177A DOCK10_ENST00000409592.3_Silent_p.A171A NM_014689.2 NP_055504.2 Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 177 NA regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264) extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) Rho guanyl-nucleotide exchange factor activity (GO:0005089) NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) CAGTTCCTCCCGCTCCTCCAC 0.502 NA c||| 1123 0.224241 0.5272 0.0937 5008 , , NA 17262 0.0556 NA 0.1412 False NA ,,, NA NA NA 2504 0.1667 NA NA NA NA 0 T 1820,2040 428,964,538 115 117 116 531 -11.2 0.1 2 dbSNP_100 116 1240,6986 95,1050,2968 no coding-synonymous DOCK10 NM_014689.2 523,2014,3506 TT,TC,CC 15.0742,47.1503,25.3186 177/2187 225750861 3060,9026 1930 4113 6043 SO:0001819 synonymous_variant AB014594 CCDS46528.1, CCDS74661.1 2q36.3 2013-01-10 ENSG00000135905 ENSG00000135905 55619 Pleckstrin homology (PH) domain containing 23479 protein-coding gene gene with protein product zizimin3 611518 NA 12432077 Standard NM_014689 NA Approved ZIZ3, KIAA0694 uc010fwz.1 Q96BY6 OTTHUMG00000153428 ENST00000258390.7:c.531G>A chr2.hg19:g.225750861C>T NA B3FL70|O75178|Q9NW06|Q9NXI8 hg19 CCDS46528.1 0.02 1.942084 TCCxGCT COVERED NOVEL DOCK10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000331246.1 0 6.91885 KEEP 0 0 0 23 744 CC 0.999892 0.999514 0 - 7 60 254 0 0 18.240978 78 60 2797 134 ENST00000258390.7 0.082353 0.999622 DOCK10 55619 __UNKNOWN__ __UNKNOWN__ 2 225751293 225751293 __UNKNOWN__ Intron SNP A A G rs2304334 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:225751293A>G ENST00000258390.7 - 5 484 DOCK10_ENST00000409592.3_Intron NM_014689.2 NP_055504.2 Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 NA NA regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264) extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) Rho guanyl-nucleotide exchange factor activity (GO:0005089) NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) CATTGGAGACAGCTTTCATTT 0.333 NA G||| 1123 0.224241 0.5272 0.0937 5008 , , NA 15289 0.0556 NA 0.1412 False NA ,,, NA NA NA 2504 0.1667 NA NA NA NA 0 G 1728,1896 416,896,500 23 21 22 -9.9 0 2 dbSNP_100 22 1220,6908 96,1028,2940 no intron DOCK10 NM_014689.2 512,1924,3440 GG,GA,AA 15.0098,47.6821,25.0851 225751293 2948,8804 1812 4064 5876 SO:0001627 intron_variant AB014594 CCDS46528.1, CCDS74661.1 2q36.3 2013-01-10 ENSG00000135905 ENSG00000135905 55619 Pleckstrin homology (PH) domain containing 23479 protein-coding gene gene with protein product zizimin3 611518 NA 12432077 Standard NM_014689 NA Approved ZIZ3, KIAA0694 uc010fwz.1 Q96BY6 OTTHUMG00000153428 ENST00000258390.7:c.417-45T>C chr2.hg19:g.225751293A>G NA B3FL70|O75178|Q9NW06|Q9NXI8 hg19 CCDS46528.1 0.02 1.77141 GACxGCT COVERED NOVEL DOCK10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000331246.1 0 4.814053 KEEP 0 0 0 16 493 AA 0.997832 0.984015 0 - 4 60 140 0 0 9.684796 51 60 1892 79 ENST00000258390.7 0.072727 0.986153 C2orf83 56918 __UNKNOWN__ __UNKNOWN__ 2 228475013 228475013 __UNKNOWN__ 3'UTR SNP G G T rs2138406 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:228475013G>T ENST00000264387.4 - 0 1636 C2orf83_ENST00000409066.1_3'UTR NM_020161.3 NP_064546.3 Q53S99 CB083_HUMAN chromosome 2 open reading frame 83 NA NA transport (GO:0006810) membrane (GO:0016020) endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(2) 11 AGCCAACAGTGCACATTTAGA 0.453 NA G||| 1217 0.243011 0.1664 0.2695 5008 , , NA 16007 0.2827 NA 0.1948 False NA ,,, NA NA NA 2504 0.3364 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS33388.1, CCDS54434.1 2q36.3 2008-09-16 ENSG00000042304 ENSG00000042304 56918 25344 protein-coding gene gene with protein product NA Standard NM_020161 NM_020161 NA Approved DKFZp547H025 uc002vph.3 Q53S99 OTTHUMG00000153550 ENST00000264387.4:c.*1097C>A chr2.hg19:g.228475013G>T NA A2RRG6|B8ZZI8|Q9NPW4 hg19 CCDS33388.1 0.02 9.709957 AGTxCAC COVERED NOVEL C2orf83-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000331607.1 7 7.825382 KEEP 0 0 0 26 915 GG 0.999957 0.999957 0 - 10 60 333 0 0 19.267575 290 60 11000 384 ENST00000264387.4 0.033333 1 SPHKAP 80309 __UNKNOWN__ __UNKNOWN__ 2 228855958 228855958 __UNKNOWN__ Intron SNP T T C rs548635132|rs16824284 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:228855958T>C ENST00000392056.3 - 10 4821 SPHKAP_ENST00000344657.5_Intron NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing NA NA extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018) protein kinase A binding (GO:0051018) NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) GCCCAGGCAATTGTGTGTCAA 0.483 NA T||| 1280 0.255591 0.2995 0.2752 5008 , , NA 18814 0.4375 NA 0.1561 False NA ,,, NA NA NA 2504 0.0971 NA NA NA NA 0 T , 1267,3139 433.9+/-343.8 200,867,1136 147 140 143 , 4.9 1 2 dbSNP_123 143 1356,7244 265.3+/-286.1 109,1138,3053 no intron,intron SPHKAP NM_001142644.1,NM_030623.3 , 309,2005,4189 CC,CT,TT 15.7674,28.7562,20.1676 , , 228855958 2623,10383 2203 4300 6503 SO:0001627 intron_variant CCDS33389.1, CCDS46537.1 2q36.3 2010-08-20 ENSG00000153820 ENSG00000153820 80309 A-kinase anchor proteins 30619 protein-coding gene gene with protein product sphingosine kinase type 1-interacting protein 611646 NA 12080051, 11214970 Standard NM_030623 NM_030623 NA Approved SKIP uc002vpq.2 Q2M3C7 OTTHUMG00000153584 ENST00000392056.3:c.4774+31A>G chr2.hg19:g.228855958T>C NA Q68DA3|Q68DR8|Q9C0I5 hg19 CCDS46537.1 0.02 15.114086 CAAxTGT COVERED NOVEL SPHKAP-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000331750.1 3 13.541558 KEEP 0 0 0 45 1454 TT 1 1 0 - 15 60 585 0 0 39.603619 294 60 10760 465 ENST00000392056.3 0.048544 1 SPHKAP 80309 __UNKNOWN__ __UNKNOWN__ 2 228882970 228882970 __UNKNOWN__ Missense_Mutation SNP T T C rs3828161 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:228882970T>C ENST00000392056.3 - 7 2646 c.2600A>G c.(2599-2601)cAg>cGg p.Q867R SPHKAP_ENST00000344657.5_Missense_Mutation_p.Q867R NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 867 NA Q -> R (in dbSNP:rs3828161). extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018) protein kinase A binding (GO:0051018) NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) ACTTCTGGACTGGCTGACCGT 0.493 NA T||| 1235 0.246605 0.2874 0.2795 5008 , , NA 20550 0.3998 NA 0.1581 False NA ,,, NA NA NA 2504 0.1012 NA NA NA NA 0 T ARG/GLN,ARG/GLN 1280,3126 435.9+/-344.5 195,890,1118 584 558 567 2600,2600 -0.8 0 2 dbSNP_107 567 1370,7230 267.6+/-287.4 110,1150,3040 yes missense,missense SPHKAP NM_001142644.1,NM_030623.3 43,43 305,2040,4158 CC,CT,TT 15.9302,29.0513,20.3752 benign,benign 867/1701,867/1672 228882970 2650,10356 2203 4300 6503 SO:0001583 missense CCDS33389.1, CCDS46537.1 2q36.3 2010-08-20 ENSG00000153820 ENSG00000153820 80309 A-kinase anchor proteins 30619 protein-coding gene gene with protein product sphingosine kinase type 1-interacting protein 611646 NA 12080051, 11214970 Standard NM_030623 NM_030623 NA Approved SKIP uc002vpq.2 Q2M3C7 OTTHUMG00000153584 ENST00000392056.3:c.2600A>G chr2.hg19:g.228882970T>C ENSP00000375909:p.Gln867Arg NA Q68DA3|Q68DR8|Q9C0I5 hg19 CCDS46537.1 0.02 9.92534 GACxGGC COVERED 548 0.2509157509157509 138 0.2804878048780488 77 0.212707182320442 218 0.3811188811188811 115 0.1517150395778364 T 0.527 -0.859464 0.02610 0.290513 0.159302 ENSG00000153820 ENST00000392056;ENST00000344657 T;T 0.11169 2.8;2.8 6.17 -0.751 0.11076 . 0.584522 0.18502 N 0.139308 T 0.00012 0.0000 L 0.36672 1.1 0.80722 P 0.0 B;B 0.02656 0.0;0.0 B;B 0.06405 0.0;0.002 T 0.48547 -0.9026 9 0.22706 T 0.39 . 11.3332 0.49487 0.0:0.3465:0.0:0.6535 rs3828161;rs56528711;rs57833139;rs3828161 867;867 Q2M3C7;Q2M3C7-2 SPKAP_HUMAN;. R 867 ENSP00000375909:Q867R;ENSP00000339886:Q867R ENSP00000339886:Q867R Q - 2 0 SPHKAP 228591214 0.002000 0.14202 0.000000 0.03702 0.015000 0.08874 1.086000 0.30853 -0.029000 0.13827 0.533000 0.62120 CAG NOVEL SPHKAP-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000331750.1 3 9.930309 KEEP 0 0 0 33 1049 TT 0.999998 0.999998 0 - 11 60 376 0 0 22.600239 276 60 10285 365 ENST00000392056.3 0.038328 1 TRIP12 9320 __UNKNOWN__ __UNKNOWN__ 2 230632268 230632268 __UNKNOWN__ 3'UTR SNP G G A rs6687 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:230632268G>A ENST00000389045.3 - 0 5243 TRIP12_ENST00000283943.5_3'UTR|TRIP12_ENST00000389044.4_3'UTR Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 NA NA cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787) cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842) breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) TTCTTGCTATGATCAGGAAAG 0.398 NA G||| 737 0.147165 0.2088 0.1873 5008 , , NA 21199 0.1062 NA 0.1461 False NA ,,, NA NA NA 2504 0.0787 NA NA NA NA 0 G 942,3464 358.6+/-314.5 106,730,1367 135 121 126 3.5 0.8 2 dbSNP_52 126 1160,7440 239.0+/-270.3 76,1008,3216 no utr-3 TRIP12 NM_004238.1 182,1738,4583 AA,AG,GG 13.4884,21.3799,16.1618 230632268 2102,10904 2203 4300 6503 SO:0001624 3_prime_UTR_variant L40383 CCDS33391.1, CCDS63145.1, CCDS63146.1 2q36.3 2008-05-27 ENSG00000153827 ENSG00000153827 9320 12306 protein-coding gene gene with protein product 604506 NA 7776974 Standard NM_004238 XM_005246961 NA Approved KIAA0045 uc002vpw.1 Q14669 OTTHUMG00000153623 ENST00000389045.3:c.*2C>T chr2.hg19:g.230632268G>A NA D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7 hg19 0.02 8.219262 TATxATC COVERED NOVEL TRIP12-005 NOVEL basic|appris_principal|exp_conf protein_coding NA protein_coding OTTHUMT00000331865.1 0 7.825397 KEEP 0 0 0 26 915 GG 0.999957 0.999957 0 - 10 60 362 0 0 23.560172 198 60 7558 263 ENST00000389045.3 0.048077 1 TRIP12 9320 __UNKNOWN__ __UNKNOWN__ 2 230668858 230668858 __UNKNOWN__ Silent SNP T T C rs13018957 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:230668858T>C ENST00000389045.3 - 16 1773 c.1701A>G c.(1699-1701)acA>acG p.T567T TRIP12_ENST00000283943.5_Silent_p.T837T|TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389044.4_Silent_p.T885T Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 837 NA cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787) cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842) p.T837T(1) breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) CACCAAATAATGTCTTAATAA 0.383 NA T||| 1757 0.350839 0.1589 0.438 5008 , , NA 16773 0.3581 NA 0.5089 False NA ,,, NA NA NA 2504 0.3783 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) T 940,3466 353.1+/-312.0 109,722,1372 84 90 88 2511 -6.9 0.6 2 dbSNP_121 88 4135,4465 563.9+/-388.2 999,2137,1164 no coding-synonymous TRIP12 NM_004238.1 1108,2859,2536 CC,CT,TT 48.0814,21.3345,39.0205 837/1993 230668858 5075,7931 2203 4300 6503 SO:0001819 synonymous_variant L40383 CCDS33391.1, CCDS63145.1, CCDS63146.1 2q36.3 2008-05-27 ENSG00000153827 ENSG00000153827 9320 12306 protein-coding gene gene with protein product 604506 NA 7776974 Standard NM_004238 XM_005246961 NA Approved KIAA0045 uc002vpw.1 Q14669 OTTHUMG00000153623 ENST00000389045.3:c.1701A>G chr2.hg19:g.230668858T>C NA D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7 hg19 0.02 11.436719 TAAxGTC COVERED NOVEL TRIP12-005 NOVEL basic|appris_principal|exp_conf protein_coding NA protein_coding OTTHUMT00000331865.1 1 19.289302 KEEP 0 1 28 74 2289 TT 1 1 0 - 10 60 376 0 0 24.143857 240 60 8967 419 ENST00000389045.3 0.04 1 TRIP12 9320 __UNKNOWN__ __UNKNOWN__ 2 230668982 230668982 __UNKNOWN__ Intron SNP T T G rs4973229 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:230668982T>G ENST00000389045.3 - 16 1688 TRIP12_ENST00000283943.5_Intron|TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389044.4_Intron Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 NA NA cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787) cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842) breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) AATCCTGAAGTGACAGACTTC 0.328 NA T||| 1750 0.349441 0.1581 0.4352 5008 , , NA 17559 0.3581 NA 0.506 False NA ,,, NA NA NA 2504 0.3773 NA NA NA NA 0 T 845,3341 113,619,1361 22 25 24 -5.2 0 2 dbSNP_111 24 3891,4599 964,1963,1318 no intron TRIP12 NM_004238.1 1077,2582,2679 GG,GT,TT 45.8304,20.1863,37.3619 230668982 4736,7940 2093 4245 6338 SO:0001627 intron_variant L40383 CCDS33391.1, CCDS63145.1, CCDS63146.1 2q36.3 2008-05-27 ENSG00000153827 ENSG00000153827 9320 12306 protein-coding gene gene with protein product 604506 NA 7776974 Standard NM_004238 XM_005246961 NA Approved KIAA0045 uc002vpw.1 Q14669 OTTHUMG00000153623 ENST00000389045.3:c.1616-39A>C chr2.hg19:g.230668982T>G NA D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7 hg19 0.02 3.555288 AAGxGAC COVERED NOVEL TRIP12-005 NOVEL basic|appris_principal|exp_conf protein_coding NA protein_coding OTTHUMT00000331865.1 0 3.132443 KEEP 0 1 36 23 704 TT 0.999909 0.999909 0 - 5 60 175 0 0 10.757106 121 60 4302 175 ENST00000389045.3 0.039683 1 SLC16A14 151473 __UNKNOWN__ __UNKNOWN__ 2 230901647 230901647 __UNKNOWN__ 3'UTR SNP A A G rs13432082 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:230901647A>G ENST00000295190.4 - 0 2440 NM_152527.4 NP_689740.2 Q7RTX9 MOT14_HUMAN solute carrier family 16, member 14 NA NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) symporter activity (GO:0015293) NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948) TCTGAAATCTAGTCATATTCT 0.343 NA A||| 1427 0.284944 0.5295 0.3184 5008 , , NA 19445 0.0962 NA 0.2992 False NA ,,, NA NA NA 2504 0.1104 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BN000146 CCDS2473.1 2q37.1 2013-07-18 2013-07-18 ENSG00000163053 ENSG00000163053 151473 Solute carriers 26417 protein-coding gene gene with protein product monocarboxylic acid transporter 14 solute carrier family 16 (monocarboxylic acid transporters), member 14 NA Standard NM_152527 NM_152527 NA Approved FLJ30794, MCT14 uc002vqd.2 Q7RTX9 OTTHUMG00000133205 ENST00000295190.4:c.*449T>C chr2.hg19:g.230901647A>G NA A8KA08|Q53R92|Q96NI7 hg19 CCDS2473.1 0.02 4.678407 TCTxGTC COVERED NOVEL SLC16A14-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256918.2 1 4.813184 KEEP 0 0 0 16 478 AA 0.997832 0.997831 0 - 5 60 188 0 0 12.072398 120 60 4401 161 ENST00000295190.4 0.04 0.999999 SP110 3431 __UNKNOWN__ __UNKNOWN__ 2 231036860 231036860 __UNKNOWN__ Missense_Mutation SNP C C T rs3948463 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:231036860C>T ENST00000258381.6 - 16 1814 c.1737G>A c.(1735-1737)atG>atA p.M579I AC009950.2_ENST00000609120.1_RNA|AC009950.2_ENST00000454058.1_RNA|AC009950.2_ENST00000594622.1_RNA|AC009950.2_ENST00000595586.2_RNA|AC009950.2_ENST00000600787.1_RNA|SP110_ENST00000358662.4_Missense_Mutation_p.M579I NM_080424.2 NP_536349 Q9HB58 SP110_HUMAN SP110 nuclear body protein 579 NA M -> I (in dbSNP:rs3948463). {ECO:0000269|PubMed:16803959}. regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032) nucleolus (GO:0005730)|nucleus (GO:0005634) DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270) breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169) Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097) AAGACCTCTTCATCCTGCAGA 0.552 NA C||| 198 0.0395367 0.0076 0.0476 5008 , , NA 23749 0.001 NA 0.0924 False NA ,,, NA NA NA 2504 0.0624 NA NA NA NA 0 C ILE/MET,ILE/MET 74,4332 65.8+/-103.3 0,74,2129 146 134 138 1737,1737 2.7 0.6 2 dbSNP_108 138 710,7890 175.0+/-225.2 27,656,3617 yes missense,missense SP110 NM_004509.3,NM_080424.2 10,10 27,730,5746 TT,TC,CC 8.2558,1.6795,6.028 benign,benign 579/690,579/714 231036860 784,12222 2203 4300 6503 SO:0001583 missense L22343 CCDS2474.1, CCDS2475.1, CCDS2476.1, CCDS54435.1 2q37.1 2014-09-17 2001-12-19 2001-12-20 ENSG00000135899 ENSG00000135899 3431 5401 protein-coding gene gene with protein product 604457 interferon-induced protein 41, 30kD IFI41, IFI75 NA 7693701, 10388521 Standard NM_080424 NM_080424 NA Approved uc002vqg.3 Q9HB58 OTTHUMG00000133204 ENST00000258381.6:c.1737G>A chr2.hg19:g.231036860C>T ENSP00000258381:p.Met579Ile NA B4DVI4|F5H1M1|Q14976|Q14977|Q53TG2|Q8WUZ6|Q9HCT8 hg19 CCDS2475.1 0.02 8.196074 CTTxATC COVERED 100 0.045787545787545784 6 0.012195121951219513 22 0.06077348066298342 1 0.0017482517482517483 71 0.09366754617414248 C 4.293 0.053612 0.08291 0.016795 0.082558 ENSG00000135899 ENST00000258381;ENST00000358662 D;D 0.86865 -2.18;-2.18 3.57 2.68 0.31781 Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Bromodomain (1); . . . . T 0.07638 0.0192 N 0.04335 -0.225 0.58432 D 0.999999 B;B 0.20550 0.002;0.046 B;B 0.12837 0.001;0.008 T 0.16453 -1.0402 9 0.19147 T;T 0.46;0.46 . 7.6688 0.28447 0.0:0.8738:0.0:0.1262 rs3948463;rs17261869;rs52826892;rs59413772;rs3948463 579;579 Q9HB58;Q9HB58-6 SP110_HUMAN;. I 579 ENSP00000258381:M579I;ENSP00000351488:M579I ENSP00000258381:M579I;ENSP00000258381:M579I M - 3 0 SP110 230745104 0.002000 0.14202 0.584000 0.28653 0.081000 0.17604 -0.052000 0.11865 0.812000 0.34326 0.558000 0.71614 ATG NOVEL SP110-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000332413.1 1 6.753181 KEEP 0 1 21 30 1041 CC 0.999997 0.999997 0 - 8 60 293 0 0 18.150422 215 60 8250 303 ENST00000258381.6 0.035874 1 SP110 3431 __UNKNOWN__ __UNKNOWN__ 2 231037616 231037616 __UNKNOWN__ Silent SNP A A G rs35495464 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:231037616A>G ENST00000258381.6 - 15 1727 c.1650T>C c.(1648-1650)ggT>ggC p.G550G AC009950.2_ENST00000609120.1_RNA|AC009950.2_ENST00000454058.1_RNA|AC009950.2_ENST00000594622.1_RNA|AC009950.2_ENST00000595586.2_RNA|AC009950.2_ENST00000600787.1_RNA|SP110_ENST00000358662.4_Silent_p.G550G NM_080424.2 NP_536349 Q9HB58 SP110_HUMAN SP110 nuclear body protein 550 NA regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032) nucleolus (GO:0005730)|nucleus (GO:0005634) DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270) breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169) Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097) GTGGACAAGTACCGCAGCAGA 0.592 NA A||| 200 0.0399361 0.0076 0.049 5008 , , NA 20054 0.001 NA 0.0924 False NA ,,, NA NA NA 2504 0.0634 NA NA NA NA 0 A , 73,4333 65.3+/-102.7 0,73,2130 168 117 134 1650,1650 -1.1 0 2 dbSNP_126 134 710,7890 175.0+/-225.2 27,656,3617 no coding-synonymous,coding-synonymous SP110 NM_004509.3,NM_080424.2 , 27,729,5747 GG,GA,AA 8.2558,1.6568,6.0203 , 550/690,550/714 231037616 783,12223 2203 4300 6503 SO:0001819 synonymous_variant L22343 CCDS2474.1, CCDS2475.1, CCDS2476.1, CCDS54435.1 2q37.1 2014-09-17 2001-12-19 2001-12-20 ENSG00000135899 ENSG00000135899 3431 5401 protein-coding gene gene with protein product 604457 interferon-induced protein 41, 30kD IFI41, IFI75 NA 7693701, 10388521 Standard NM_080424 NM_080424 NA Approved uc002vqg.3 Q9HB58 OTTHUMG00000133204 ENST00000258381.6:c.1650T>C chr2.hg19:g.231037616A>G NA B4DVI4|F5H1M1|Q14976|Q14977|Q53TG2|Q8WUZ6|Q9HCT8 hg19 CCDS2475.1 0.02 7.180098 AGTxCCG COVERED NOVEL SP110-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000332413.1 0 8.421784 KEEP 0 0 0 28 818 AA 0.999997 0.999997 0 - 10 60 373 0 0 25.595895 159 60 5284 257 ENST00000258381.6 0.059172 1 SP110 3431 __UNKNOWN__ __UNKNOWN__ 2 231041106 231041106 __UNKNOWN__ Intron SNP A A G rs41309112 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:231041106A>G ENST00000258381.6 - 14 1668 SP110_ENST00000358662.4_Intron NM_080424.2 NP_536349 Q9HB58 SP110_HUMAN SP110 nuclear body protein NA NA regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032) nucleolus (GO:0005730)|nucleus (GO:0005634) DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270) breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169) Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097) tatgttgcctaggctTAGAGC 0.383 NA A||| 201 0.0401358 0.0076 0.0476 5008 , , NA 19897 0.002 NA 0.0924 False NA ,,, NA NA NA 2504 0.0644 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L22343 CCDS2474.1, CCDS2475.1, CCDS2476.1, CCDS54435.1 2q37.1 2014-09-17 2001-12-19 2001-12-20 ENSG00000135899 ENSG00000135899 3431 5401 protein-coding gene gene with protein product 604457 interferon-induced protein 41, 30kD IFI41, IFI75 NA 7693701, 10388521 Standard NM_080424 NM_080424 NA Approved uc002vqg.3 Q9HB58 OTTHUMG00000133204 ENST00000258381.6:c.1590+1147T>C chr2.hg19:g.231041106A>G NA B4DVI4|F5H1M1|Q14976|Q14977|Q53TG2|Q8WUZ6|Q9HCT8 hg19 CCDS2475.1 0.02 5.062394 CCTxGGC COVERED NOVEL SP110-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000332413.1 1 6.317792 KEEP 0 0 0 21 656 AA 0.999869 0.99985 0 - 5 60 200 0 0 13.678619 99 60 3552 149 ENST00000258381.6 0.048077 0.999981 SP110 3431 __UNKNOWN__ __UNKNOWN__ 2 231042276 231042276 __UNKNOWN__ Missense_Mutation SNP A A G rs1135791 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:231042276A>G ENST00000258381.6 - 14 1645 c.1568T>C c.(1567-1569)aTg>aCg p.M523T SP110_ENST00000540870.1_Missense_Mutation_p.M529T|SP110_ENST00000392048.3_Missense_Mutation_p.M521T|SP110_ENST00000338556.3_Missense_Mutation_p.M225T|SP110_ENST00000258382.5_Missense_Mutation_p.M523T|SP110_ENST00000358662.4_Missense_Mutation_p.M523T NM_080424.2 NP_536349 Q9HB58 SP110_HUMAN SP110 nuclear body protein 523 SAND. {ECO:0000255|PROSITE- ProRule:PRU00185}. NA M -> T (in dbSNP:rs1135791). {ECO:0000269|PubMed:10913195, ECO:0000269|PubMed:16803959}. regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032) nucleolus (GO:0005730)|nucleus (GO:0005634) DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270) breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169) Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097) TCCTAGGGTCATTCCTTCACA 0.423 NA G||| 1627 0.32488 0.208 0.3545 5008 , , NA 20126 0.1677 NA 0.496 False NA ,,, NA NA NA 2504 0.4479 NA NA NA NA 0 G THR/MET,THR/MET,THR/MET,THR/MET 1124,3282 717.8+/-408.8 128,868,1207 370 347 355 1586,1568,1568,1568 -0.8 0 2 dbSNP_86 355 4306,4294 577.4+/-390.5 1110,2086,1104 yes missense,missense,missense,missense SP110 NM_001185015.1,NM_004509.3,NM_004510.3,NM_080424.2 81,81,81,81 1238,2954,2311 GG,GA,AA 49.9302,25.5107,41.75 benign,benign,benign,benign 529/556,523/690,523/550,523/714 231042276 5430,7576 2203 4300 6503 SO:0001583 missense L22343 CCDS2474.1, CCDS2475.1, CCDS2476.1, CCDS54435.1 2q37.1 2014-09-17 2001-12-19 2001-12-20 ENSG00000135899 ENSG00000135899 3431 5401 protein-coding gene gene with protein product 604457 interferon-induced protein 41, 30kD IFI41, IFI75 NA 7693701, 10388521 Standard NM_080424 NM_080424 NA Approved uc002vqg.3 Q9HB58 OTTHUMG00000133204 ENST00000258381.6:c.1568T>C chr2.hg19:g.231042276A>G ENSP00000258381:p.Met523Thr NA B4DVI4|F5H1M1|Q14976|Q14977|Q53TG2|Q8WUZ6|Q9HCT8 hg19 CCDS2475.1 0.02 19.242092 GTCxTTC COVERED 738 0.33791208791208793 120 0.24390243902439024 146 0.40331491712707185 97 0.16958041958041958 375 0.4947229551451187 G 3.063 -0.192867 0.06259 0.255107 0.500698 ENSG00000135899 ENST00000258381;ENST00000358662;ENST00000392048;ENST00000258382;ENST00000540870;ENST00000338556 T;T;T;T;T;T 0.70164 -0.46;-0.46;-0.46;-0.46;-0.46;-0.46 4.61 -0.782 0.10961 SAND domain-like (2);SAND domain (3); 0.977573 0.08310 N 0.965581 T 0.00012 0.0000 N 0.02247 -0.625 0.80722 P 0.0 B;B;B;B;B 0.02656 0.0;0.0;0.0;0.0;0.0 B;B;B;B;B 0.01281 0.0;0.0;0.0;0.0;0.0 T 0.41928 -0.9481 9 0.21014 T 0.42 . 0.2939 0.00262 0.2799:0.1726:0.15:0.3975 rs1135791;rs1804027;rs3198703;rs11556889;rs17327944;rs59171471;rs1135791 521;225;529;523;523 G5E9C0;E7ER70;F5H1M1;Q9HB58;Q9HB58-6 .;.;.;SP110_HUMAN;. T 523;523;521;523;529;225 ENSP00000258381:M523T;ENSP00000351488:M523T;ENSP00000375902:M521T;ENSP00000258382:M523T;ENSP00000439558:M529T;ENSP00000344049:M225T ENSP00000258381:M523T M - 2 0 SP110 230750520 0.000000 0.05858 0.000000 0.03702 0.002000 0.02628 -0.527000 0.06200 -0.498000 0.06632 -1.974000 0.00461 ATG NOVEL SP110-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000332413.1 5 18.390394 KEEP 0 1 34 73 2323 AA 1 1 0 - 27 60 929 0 0 60.287232 469 60 17315 718 ENST00000258381.6 0.054435 1 SP100 6672 __UNKNOWN__ __UNKNOWN__ 2 231334210 231334210 __UNKNOWN__ Intron SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:231334210C>T ENST00000340126.4 + 14 1376 SP100_ENST00000341950.4_Intron|SP100_ENST00000264052.5_Intron|SP100_ENST00000427101.2_Intron|SP100_ENST00000409824.1_Intron|SP100_ENST00000409341.1_Intron|SP100_ENST00000409112.1_Intron|SP100_ENST00000409897.1_Intron NM_001080391.1 NP_001073860.1 P23497 SP100_HUMAN SP100 nuclear antigen NA NA cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032) cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605) chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1) 25 Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) GCGTAAGAAACAACGTTGTCC 0.353 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF056322 CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1 2q37.1 2013-01-28 2005-11-30 ENSG00000067066 ENSG00000067066 6672 Zinc fingers, PHD-type 11206 protein-coding gene gene with protein product 604585 nuclear antigen Sp100 NA 2258622, 8695863 Standard NM_003113 NM_001080391 NA Approved uc002vqu.1 P23497 OTTHUMG00000133203 ENST00000340126.4:c.1345+399C>T chr2.hg19:g.231334210C>T NA B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32 hg19 CCDS42832.1 0.02 4.431316 AAAxAAC COVERED NOVEL SP100-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000332246.1 0 6.318927 KEEP 0 0 0 21 734 CC 0.999869 0.999867 0 + 7 60 260 1 0 17.780726 112 60 4282 159 ENST00000340126.4 0.058824 0.999998 ITM2C 81618 __UNKNOWN__ __UNKNOWN__ 2 231738168 231738168 __UNKNOWN__ 5'UTR SNP G G A rs2289235 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:231738168G>A ENST00000409704.2 + 0 173 ITM2C_ENST00000492029.1_3'UTR|ITM2C_ENST00000326427.6_Missense_Mutation_p.G53S|ITM2C_ENST00000335005.6_Intron|ITM2C_ENST00000326407.6_Missense_Mutation_p.G53S Q9NQX7 ITM2C_HUMAN integral membrane protein 2C NA NA negative regulation of neuron projection development (GO:0010977)|neuron differentiation (GO:0030182)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238) extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|beta-amyloid binding (GO:0001540) cervix(2)|lung(1)|ovary(1)|skin(1) 5 Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204) Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142) CAAGAGGGGGGGCTCAGTGGG 0.617 NA G||| 2557 0.510583 0.233 0.5303 5008 , , NA 17865 0.8135 NA 0.503 False NA ,,, NA NA NA 2504 0.5675 NA NA NA NA 0 G ,SER/GLY,SER/GLY 1122,3284 397.2+/-330.3 143,836,1224 87 68 74 ,157,157 -2.6 0.7 2 dbSNP_100 74 4152,4448 563.2+/-388.1 1020,2112,1168 yes intron,missense,missense ITM2C NM_001012514.1,NM_001012516.1,NM_030926.4 ,56,56 1163,2948,2392 AA,AG,GG 48.2791,25.4653,40.5505 ,benign,benign ,53/231,53/268 231738168 5274,7732 2203 4300 6503 SO:0001623 5_prime_UTR_variant AF038953 CCDS2479.1, CCDS33395.1, CCDS33396.1, CCDS74665.1 2q37 2012-10-10 ENSG00000135916 ENSG00000135916 81618 BRICHOS domain containing 6175 protein-coding gene gene with protein product BRICHOS domain containing 2C 609554 NA 9653160 Standard NM_030926 NM_030926 NA Approved BRI3, E25, hRPC.1050_D_4, ITM3, BRICD2C uc002vqz.3 Q9NQX7 OTTHUMG00000133219 ENST00000409704.2:c.-30G>A chr2.hg19:g.231738168G>A NA B3KPG4|Q4G0A8|Q53H84|Q6IAE7|Q86VK5|Q8N288|Q8TAW0|Q9BUP8 hg19 0.02 10.334207 GGGxGCT COVERED 1175 0.538003663003663 139 0.28252032520325204 177 0.4889502762430939 471 0.8234265734265734 388 0.5118733509234829 G 0.012 -1.673453 0.00758 0.254653 0.482791 ENSG00000135916 ENST00000457215;ENST00000326427;ENST00000326407 T;T;T 0.28255 1.62;2.01;2.03 4.85 -2.61 0.06171 . 0.677726 0.14983 N 0.287104 T 0.00012 0.0000 N 0.05124 -0.11 0.53688 P 2.6999999999999247E-5 B;B 0.06786 0.0;0.001 B;B 0.04013 0.001;0.001 T 0.36578 -0.9742 9 0.02654 T 1 -29.8811 4.6856 0.12755 0.5479:0.0:0.2897:0.1624 rs2289235;rs17849577;rs17852294;rs61461656;rs2289235 53;53 Q9NQX7-3;Q9NQX7 .;ITM2C_HUMAN S 53 ENSP00000390655:G53S;ENSP00000322730:G53S;ENSP00000322100:G53S ENSP00000322100:G53S G + 1 0 ITM2C 231446412 0.611000 0.26992 0.739000 0.30968 0.006000 0.05464 0.093000 0.15086 -0.144000 0.11314 -0.783000 0.03347 GGC NOVEL ITM2C-008 PUTATIVE alternative_5_UTR|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000397049.1 3 9.786543 KEEP 0 2 55 52 1802 GG 1 1 0 + 9 60 325 0 0 19.947545 243 60 8514 368 ENST00000409704.2 0.035714 1 ITM2C 81618 __UNKNOWN__ __UNKNOWN__ 2 231738263 231738263 __UNKNOWN__ Silent SNP C C T rs2289234 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:231738263C>T ENST00000409704.2 + 2 268 c.66C>T c.(64-66)ttC>ttT p.F22F ITM2C_ENST00000492029.1_3'UTR|ITM2C_ENST00000326427.6_Silent_p.F84F|ITM2C_ENST00000335005.6_Intron|ITM2C_ENST00000326407.6_Silent_p.F84F Q9NQX7 ITM2C_HUMAN integral membrane protein 2C 84 NA Missing (in Ref. 6; BAC03562). {ECO:0000305}. negative regulation of neuron projection development (GO:0010977)|neuron differentiation (GO:0030182)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238) extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|beta-amyloid binding (GO:0001540) cervix(2)|lung(1)|ovary(1)|skin(1) 5 Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204) Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142) GATACTTCTTCCTTGCGCAGG 0.622 NA C||| 2553 0.509784 0.2277 0.5331 5008 , , NA 20020 0.8155 NA 0.504 False NA ,,, NA NA NA 2504 0.5654 NA NA NA NA 0 C ,, 1099,3307 384.2+/-325.2 138,823,1242 96 66 76 ,252,252 2.9 1 2 dbSNP_100 76 4159,4441 553.8+/-386.4 1025,2109,1166 no intron,coding-synonymous,coding-synonymous ITM2C NM_001012514.1,NM_001012516.1,NM_030926.4 ,, 1163,2932,2408 TT,TC,CC 48.3605,24.9433,40.4275 ,, ,84/231,84/268 231738263 5258,7748 2203 4300 6503 SO:0001819 synonymous_variant AF038953 CCDS2479.1, CCDS33395.1, CCDS33396.1, CCDS74665.1 2q37 2012-10-10 ENSG00000135916 ENSG00000135916 81618 BRICHOS domain containing 6175 protein-coding gene gene with protein product BRICHOS domain containing 2C 609554 NA 9653160 Standard NM_030926 NM_030926 NA Approved BRI3, E25, hRPC.1050_D_4, ITM3, BRICD2C uc002vqz.3 Q9NQX7 OTTHUMG00000133219 ENST00000409704.2:c.66C>T chr2.hg19:g.231738263C>T NA B3KPG4|Q4G0A8|Q53H84|Q6IAE7|Q86VK5|Q8N288|Q8TAW0|Q9BUP8 hg19 0.02 14.190213 CTTxCTT COVERED NOVEL ITM2C-008 PUTATIVE alternative_5_UTR|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000397049.1 2 18.123734 KEEP 0 2 50 78 2785 CC 1 1 0 + 11 60 397 0 0 23.527582 354 60 13245 586 ENST00000409704.2 0.030137 1 ITM2C 81618 __UNKNOWN__ __UNKNOWN__ 2 231738269 231738269 __UNKNOWN__ Silent SNP G G A rs2289233 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:231738269G>A ENST00000409704.2 + 2 274 c.72G>A c.(70-72)gcG>gcA p.A24A ITM2C_ENST00000492029.1_3'UTR|ITM2C_ENST00000326427.6_Silent_p.A86A|ITM2C_ENST00000335005.6_Intron|ITM2C_ENST00000326407.6_Silent_p.A86A Q9NQX7 ITM2C_HUMAN integral membrane protein 2C 86 NA Missing (in Ref. 6; BAC03562). {ECO:0000305}. negative regulation of neuron projection development (GO:0010977)|neuron differentiation (GO:0030182)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238) extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|beta-amyloid binding (GO:0001540) cervix(2)|lung(1)|ovary(1)|skin(1) 5 Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204) Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142) TCTTCCTTGCGCAGGTGAGGG 0.617 NA G||| 2551 0.509385 0.2277 0.5331 5008 , , NA 19946 0.8135 NA 0.504 False NA ,,, NA NA NA 2504 0.5654 NA NA NA NA 0 G ,, 1101,3305 384.4+/-325.3 139,823,1241 88 61 70 ,258,258 -5.2 0.8 2 dbSNP_100 70 4165,4435 553.2+/-386.3 1027,2111,1162 no intron,coding-synonymous,coding-synonymous ITM2C NM_001012514.1,NM_001012516.1,NM_030926.4 ,, 1166,2934,2403 AA,AG,GG 48.4302,24.9887,40.489 ,, ,86/231,86/268 231738269 5266,7740 2203 4300 6503 SO:0001819 synonymous_variant AF038953 CCDS2479.1, CCDS33395.1, CCDS33396.1, CCDS74665.1 2q37 2012-10-10 ENSG00000135916 ENSG00000135916 81618 BRICHOS domain containing 6175 protein-coding gene gene with protein product BRICHOS domain containing 2C 609554 NA 9653160 Standard NM_030926 NM_030926 NA Approved BRI3, E25, hRPC.1050_D_4, ITM3, BRICD2C uc002vqz.3 Q9NQX7 OTTHUMG00000133219 ENST00000409704.2:c.72G>A chr2.hg19:g.231738269G>A NA B3KPG4|Q4G0A8|Q53H84|Q6IAE7|Q86VK5|Q8N288|Q8TAW0|Q9BUP8 hg19 0.02 13.823105 TGCxCAG COVERED NOVEL ITM2C-008 PUTATIVE alternative_5_UTR|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000397049.1 2 19.971951 KEEP 0 1 24 75 2632 GG 1 1 0 + 11 60 377 0 0 21.737221 339 60 12408 558 ENST00000409704.2 0.031429 1 SPATA3 130560 __UNKNOWN__ __UNKNOWN__ 2 231867578 231867578 __UNKNOWN__ Intron SNP G G C rs2271372 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:231867578G>C ENST00000452881.1 + 3 725 SPATA3_ENST00000409956.1_Intron|SPATA3_ENST00000433428.2_Intron|SPATA3_ENST00000424440.1_Intron|SPATA3_ENST00000455816.1_Intron Q8NHX4 SPTA3_HUMAN spermatogenesis associated 3 NA NA endometrium(2)|lung(1) 3 AATGGAGGTGGTCTCTTCAGG 0.592 NA G||| 427 0.0852636 0.034 0.0692 5008 , , NA 16894 0.1111 NA 0.0199 False NA ,,, NA NA NA 2504 0.2065 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY032925 CCDS2481.1 2q37.1 2008-02-05 ENSG00000173699 ENSG00000173699 130560 17884 protein-coding gene gene with protein product NA Standard NM_139073 NM_139073 NA Approved TSARG1 uc010zmd.2 Q8NHX4 OTTHUMG00000133221 ENST00000452881.1:c.576+36G>C chr2.hg19:g.231867578G>C NA Q86WX5|Q8N9Y6 hg19 CCDS2481.1 0.02 8.490945 GTGxTCT COVERED NOVEL SPATA3-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000256956.2 2 8.427463 KEEP 0 0 0 28 989 GG 0.999997 0.999997 0 + 9 60 322 0 0 19.938225 225 60 8220 326 ENST00000452881.1 0.038462 1 LINC00471 151477 __UNKNOWN__ __UNKNOWN__ 2 232378132 232378132 __UNKNOWN__ RNA SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:232378132G>A ENST00000313064.2 - 0 364 NR_024079.1 Q8N535 CB052_HUMAN long intergenic non-protein coding RNA 471 NA NA NA acccagcccggccAACTTTTG 0.468 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA BC033054 2q37.1 2012-10-12 2011-08-31 2011-08-31 ENSG00000181798 ENSG00000181798 151477 Long non-coding RNAs 28668 non-coding RNA RNA, long non-coding chromosome 2 open reading frame 52 C2orf52 NA 12477932 Standard NM_173513 NR_024079 NA Approved MGC43122 uc002vrx.1 Q8N535 OTTHUMG00000133227 ENST00000313064.2: chr2.hg19:g.232378132G>A NA hg19 0.02 3.594558 CCGxCCA COVERED NOVEL LINC00471-001 KNOWN basic processed_transcript NA processed_transcript OTTHUMT00000256963.2 1 9.967024 KEEP 0 1 34 45 1557 GG 1 1 0 - 6 60 207 0 0 12.913067 129 60 4462 202 ENST00000313064.2 0.044444 1 COPS7B 64708 __UNKNOWN__ __UNKNOWN__ 2 232672932 232672932 __UNKNOWN__ 3'UTR SNP C C T rs1246014 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:232672932C>T ENST00000350033.3 + 0 1513 COPS7B_ENST00000373608.3_3'UTR|COPS7B_ENST00000410017.1_3'UTR NM_001282949.1|NM_022730.1 NP_001269878.1|NP_073567.1 Q9H9Q2 CSN7B_HUMAN COP9 signalosome subunit 7B NA NA cullin deneddylation (GO:0010388) COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634) large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1) 8 all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Renal(207;0.025) Epithelial(121;1.36e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00136)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142) ACTAAACCCACGGGTTTTCAG 0.557 NA C||| 1985 0.396366 0.0401 0.4582 5008 , , NA 21681 0.8562 NA 0.3082 False NA ,,, NA NA NA 2504 0.4509 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK022674 CCDS2488.1, CCDS63152.1, CCDS63153.1, CCDS63154.1, CCDS74668.1 2q37.1 2013-03-14 2013-03-14 ENSG00000144524 ENSG00000144524 64708 16760 protein-coding gene gene with protein product COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 7B, COP9 constitutive photomorphogenic homolog subunit 7B (Arabidopsis) NA 9707402 Standard NM_022730 NM_001282950 NA Approved CSN7B uc002vsg.1 Q9H9Q2 OTTHUMG00000133228 ENST00000350033.3:c.*577C>T chr2.hg19:g.232672932C>T NA Q53S22|Q5BJG3|Q9H7V6 hg19 CCDS2488.1 0.02 7.094353 CCAxGGG COVERED NOVEL COPS7B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256964.2 4 6.922241 KEEP 0 0 0 23 786 CC 0.999892 0.999892 0 + 12 60 434 0 0 30.805091 144 60 4887 214 ENST00000350033.3 0.076923 1 PRSS56 646960 __UNKNOWN__ __UNKNOWN__ 2 233385202 233385202 __UNKNOWN__ 5'UTR SNP C C T rs2741294 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:233385202C>T ENST00000449534.2 + 0 30 NM_001195129.1 NP_001182058.1 P0CW18 PRS56_HUMAN protease, serine, 56 NA NA camera-type eye development (GO:0043010)|proteolysis (GO:0006508) endoplasmic reticulum (GO:0005783) serine-type endopeptidase activity (GO:0004252) NA ATTCAGTGCCCGGGGGCCGAA 0.592 NA T||| 1536 0.306709 0.3933 0.1902 5008 , , NA 13132 0.4494 NA 0.2177 False NA ,,, NA NA NA 2504 0.2168 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant CCDS74669.1 2q37.1 2013-09-24 ENSG00000237412 ENSG00000237412 646960 Serine peptidases / Serine peptidases 39433 protein-coding gene gene with protein product 613858 NA 21397065, 21532570 Standard NM_001195129 NM_001195129 NA Approved uc021vyh.1 P0CW18 OTTHUMG00000153326 ENST00000449534.2:c.-107C>T chr2.hg19:g.233385202C>T NA hg19 0.02 2.027712 GCCxGGG COVERED NOVEL PRSS56-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000330741.3 0 6.320036 KEEP 0 0 0 21 707 CC 0.999869 0.999817 0 + 9 60 335 0 0 24.741952 89 60 3175 141 ENST00000449534.2 0.091837 0.999948 EIF4E2 9470 __UNKNOWN__ __UNKNOWN__ 2 233428927 233428927 __UNKNOWN__ Intron SNP G G C rs1656397 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:233428927G>C ENST00000258416.3 + 4 943 EIF4E2_ENST00000409167.3_Intron|EIF4E2_ENST00000409322.1_Intron|EIF4E2_ENST00000409098.1_Intron|EIF4E2_ENST00000409394.1_Intron|EIF4E2_ENST00000409514.1_Intron|EIF4E2_ENST00000409495.1_Intron NM_004846.2 NP_004837.1 O60573 IF4E2_HUMAN eukaryotic translation initiation factor 4E family member 2 NA NA cytokine-mediated signaling pathway (GO:0019221)|in utero embryonic development (GO:0001701)|negative regulation of translation (GO:0017148) cytosol (GO:0005829)|mRNA cap binding complex (GO:0005845) poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)|ubiquitin protein ligase binding (GO:0031625) endometrium(2)|kidney(1)|large_intestine(2)|lung(3) 8 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;2.3e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000912)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) AAAGACACATGTTTTTTACTC 0.448 NA C||| 1636 0.326677 0.4138 0.4236 5008 , , NA 16671 0.2857 NA 0.2674 False NA ,,, NA NA NA 2504 0.2434 NA NA NA NA 0 C 1677,2727 339,999,864 33 34 34 1 0 2 dbSNP_89 34 2134,6462 274,1586,2438 no intron EIF4E2 NM_004846.2 613,2585,3302 CC,CG,GG 24.8255,38.079,29.3154 233428927 3811,9189 2202 4298 6500 SO:0001627 intron_variant AF038957 CCDS2496.1, CCDS63158.1, CCDS63159.1, CCDS74671.1 2q37.1 2008-02-05 2006-11-13 2004-10-30 ENSG00000135930 ENSG00000135930 9470 3293 protein-coding gene gene with protein product 605895 eukaryotic translation initiation factor 4E-like 3 EIF4EL3 NA 9653160, 9582349 Standard NM_004846 XM_005246975 NA Approved IF4e, 4EHP uc002vta.3 O60573 OTTHUMG00000133256 ENST00000258416.3:c.271-30G>C chr2.hg19:g.233428927G>C NA B8ZZJ9|O75349 hg19 CCDS2496.1 0.02 2.46973 CATxTTT COVERED NOVEL EIF4E2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257033.2 0 3.310814 KEEP 0 0 0 11 395 GG 0.993072 0.979322 0 + 4 60 157 0 0 11.257366 55 60 2085 78 ENST00000258416.3 0.067797 0.986153 INPP5D 3635 __UNKNOWN__ __UNKNOWN__ 2 234104029 234104029 __UNKNOWN__ Intron SNP G G A rs6706611 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:234104029G>A ENST00000359570.5 + 26 2560 INPP5D_ENST00000450745.1_Intron|INPP5D_ENST00000455936.2_Intron Q92835 SHIP1_HUMAN inositol polyphosphate-5-phosphatase, 145kDa NA NA apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852) cytosol (GO:0005829)|membrane (GO:0016020) inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594) central_nervous_system(1)|ovary(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) GCTCTTTCCCGTCCCTTTCCT 0.557 NA G||| 1385 0.276558 0.1906 0.3631 5008 , , NA 17336 0.3522 NA 0.2346 False NA ,,, NA NA NA 2504 0.2965 NA NA NA NSCLC(82;1215 1426 16163 20348 41018) NA 0 G , 771,3149 78,615,1267 60 61 61 , -1.8 0 2 dbSNP_116 61 1853,6461 213,1427,2517 no intron,intron INPP5D NM_001017915.1,NM_005541.3 , 291,2042,3784 AA,AG,GG 22.2877,19.6684,21.4484 , , 234104029 2624,9610 1960 4157 6117 SO:0001627 intron_variant U57650 CCDS74672.1 2q37.1 2013-02-14 2002-08-29 ENSG00000168918 ENSG00000168918 3635 SH2 domain containing 6079 protein-coding gene gene with protein product 601582 inositol polyphosphate-5-phosphatase, 145kD NA 8643691, 8874179 Standard NM_001017915 NM_001017915 NA Approved SHIP, hp51CN uc010zmp.2 Q92835 OTTHUMG00000133688 ENST00000359570.5:c.2561-16G>A chr2.hg19:g.234104029G>A NA O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80 hg19 0.02 10.78891 CCCxTCC COVERED NOVEL INPP5D-201 KNOWN basic|appris_principal protein_coding NA protein_coding 0 4.477636 KEEP 0 2 63 37 1234 GG 1 1 0 + 9 60 320 0 0 19.207396 259 60 8952 395 ENST00000359570.5 0.033582 1 UGT1A6 54578 __UNKNOWN__ __UNKNOWN__ 2 234676413 234676413 __UNKNOWN__ Intron SNP T T C rs386656376|rs397844436|rs2302538 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:234676413T>C ENST00000305139.6 + 3 1132 UGT1A1_ENST00000373450.4_Intron|UGT1A1_ENST00000360418.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A1_ENST00000609767.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A1_ENST00000608383.1_Intron|UGT1A8_ENST00000305208.5_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000608381.1_Intron NM_001072.3 NP_001063.2 P19224 UD16_HUMAN UDP glucuronosyltransferase 1 family, polypeptide A6 NA NA cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803) central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1) 22 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702) Acetaminophen(DB00316)|Deferiprone(DB08826)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Valproic Acid(DB00313) AGAGGACCCCTGTTTTCTAGT 0.443 NA C||| 964 0.192492 0.4251 0.0965 5008 , , NA 19007 0.0516 NA 0.1282 False NA ,,, NA NA NA 2504 0.1575 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M84130 CCDS2507.1, CCDS2508.1 2q37 2010-03-05 2005-07-20 ENSG00000167165 ENSG00000167165 54578 UDP glucuronosyltransferases 12538 other complex locus constituent 606431 UDP glycosyltransferase 1 family, polypeptide A6 NA 9295054, 1339448 Standard NM_205862 NM_001072 NA Approved HLUGP, GNT1, UGT1F P19224 OTTHUMG00000059122 ENST00000305139.6:c.994-82T>C chr2.hg19:g.234676413T>C NA A6NKK6|B8K289|Q96TE7 hg19 CCDS2507.1 0.02 4.596113 CCCxGTT COVERED NOVEL UGT1A6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000130988.1 1 2.708325 KEEP 0 0 0 9 285 TT 0.99254 0.99254 0 + 5 60 187 0 0 12.007806 118 60 4335 142 ENST00000305139.6 0.04065 0.999999 MROH2A 339766 __UNKNOWN__ __UNKNOWN__ 2 234727333 234727333 __UNKNOWN__ Missense_Mutation SNP C C G rs719418 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:234727333C>G ENST00000389758.3 + 29 3287 c.3121C>G c.(3121-3123)Cag>Gag p.Q1041E A6NES4 MRO2A_HUMAN maestro heat-like repeat family member 2A 1071 NA NA CCCTTCCAAGCAGAAGGAGCT 0.572 NA g||| 1432 0.285942 0.5446 0.17 5008 , , NA 20400 0.5089 NA 0.0199 False NA ,,, NA NA NA 2504 0.0624 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense CCDS74674.1 2q37.1 2012-12-19 2012-12-19 2012-12-19 ENSG00000185038 ENSG00000185038 339766 maestro heat-like repeat containing 27936 protein-coding gene gene with protein product HEAT repeat containing 7B1 HEATR7B1 NA 12477932 Standard XM_291007 NM_001287395 NA Approved A6NES4 OTTHUMG00000059037 ENST00000389758.3:c.3121C>G chr2.hg19:g.234727333C>G ENSP00000374408:p.Gln1041Glu NA hg19 0.02 4.482036 AAGxAGA COVERED 634 0.2902930402930403 260 0.5284552845528455 76 0.20994475138121546 279 0.48776223776223776 19 0.025065963060686015 g 0.004 -2.371226 0.00209 . . ENSG00000185038 ENST00000389758 T 0.05319 3.46 4.98 4.1 0.47936 . . . . . T 0.00012 0.0000 N 0.00197 -1.87 0.80722 P 0.0 . . . . . . T 0.41840 -0.9486 6 0.02654 T 1 . 7.2396 0.26090 0.0923:0.1702:0.7375:0.0 rs719418;rs719418 . . . E 1041 ENSP00000374408:Q1041E ENSP00000374408:Q1041E Q + 1 0 HEATR7B1 234392072 0.844000 0.29557 0.131000 0.22000 0.150000 0.21749 2.093000 0.41710 0.529000 0.28599 -0.971000 0.02607 CAG NOVEL MROH2A-001 NOVEL basic|appris_principal|exp_conf protein_coding NA protein_coding OTTHUMT00000130646.6 0 3.611607 KEEP 0 0 0 12 421 CC 0.993634 0.993633 0 + 6 60 233 0 0 15.485946 130 60 4912 188 ENST00000389758.3 0.044118 1 MROH2A 339766 __UNKNOWN__ __UNKNOWN__ 2 234731210 234731210 __UNKNOWN__ Intron SNP C C T rs75177406 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:234731210C>T ENST00000389758.3 + 33 4032 A6NES4 MRO2A_HUMAN maestro heat-like repeat family member 2A NA NA NA AAGGTGCTCTCGAGGGCGGTG 0.652 NA C||| 230 0.0459265 0.0 0.0 5008 , , NA 18451 0.2183 NA 0.0 False NA ,,, NA NA NA 2504 0.0102 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS74674.1 2q37.1 2012-12-19 2012-12-19 2012-12-19 ENSG00000185038 ENSG00000185038 339766 maestro heat-like repeat containing 27936 protein-coding gene gene with protein product HEAT repeat containing 7B1 HEATR7B1 NA 12477932 Standard XM_291007 NM_001287395 NA Approved A6NES4 OTTHUMG00000059037 ENST00000389758.3:c.3866+8C>T chr2.hg19:g.234731210C>T NA hg19 0.02 5.959771 TCTxGAG COVERED NOVEL MROH2A-001 NOVEL basic|appris_principal|exp_conf protein_coding NA protein_coding OTTHUMT00000130646.6 1 6.019076 KEEP 0 0 0 20 678 CC 0.999863 0.999863 0 + 6 60 212 0 0 12.603469 177 60 5923 239 ENST00000389758.3 0.032787 1 HJURP 55355 __UNKNOWN__ __UNKNOWN__ 2 234750542 234750542 __UNKNOWN__ Missense_Mutation SNP G G C rs3732215 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:234750542G>C ENST00000411486.2 - 8 949 c.884C>G c.(883-885)tCc>tGc p.S295C HJURP_ENST00000434039.1_5'UTR|HJURP_ENST00000432087.1_Missense_Mutation_p.S241C|HJURP_ENST00000441687.1_Missense_Mutation_p.S210C NM_018410.3 NP_060880.3 Q8NCD3 HJURP_HUMAN Holliday junction recognition protein 295 NA S -> C (in dbSNP:rs3732215). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17823411, ECO:0000269|Ref.2}. cell cycle (GO:0007049)|CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|nucleosome assembly (GO:0006334)|regulation of DNA binding (GO:0051101)|regulation of protein complex assembly (GO:0043254) chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA binding (GO:0003677)|histone binding (GO:0042393)|identical protein binding (GO:0042802) NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128) Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829) CCTCCTCCTGGAGTTCCAGTT 0.498 NA G||| 1751 0.349641 0.1044 0.5202 5008 , , NA 22098 0.374 NA 0.5368 False NA ,,, NA NA NA 2504 0.3425 NA NA NA NA 0 G CYS/SER 729,3677 301.3+/-286.8 64,601,1538 115 106 110 884 -0.8 0 2 dbSNP_107 110 4570,4030 596.6+/-393.6 1213,2144,943 yes missense HJURP NM_018410.3 112 1277,2745,2481 CC,CG,GG 46.8605,16.5456,40.7427 benign 295/749 234750542 5299,7707 2203 4300 6503 SO:0001583 missense CCDS33406.1, CCDS63166.1, CCDS63167.1 2q37.1 2007-12-06 ENSG00000123485 ENSG00000123485 55355 25444 protein-coding gene gene with protein product 612667 NA 17823411 Standard NM_018410 NM_001282962 NA Approved DKFZp762E1312, URLC9, hFLEG1, FAKTS uc002vvg.3 Q8NCD3 OTTHUMG00000059125 ENST00000411486.2:c.884C>G chr2.hg19:g.234750542G>C ENSP00000414109:p.Ser295Cys NA A8IRH5|B4DWR0|B4DZV4|Q9BUT2|Q9NSL8 hg19 CCDS33406.1 0.02 6.263778 CTGxAGT COVERED 890 0.4075091575091575 66 0.13414634146341464 182 0.5027624309392266 220 0.38461538461538464 422 0.5567282321899736 G 8.441 0.850749 0.17034 0.165456 0.531395 ENSG00000123485 ENST00000411486;ENST00000432087;ENST00000441687;ENST00000414924;ENST00000454020 T;T;T;T;T 0.50813 0.73;0.73;0.73;0.73;0.73 4.25 -0.842 0.10748 Holliday junction recognition protein, HJURP (1); 1.365940 0.04523 N 0.384964 T 0.00012 0.0000 L 0.53249 1.67 0.80722 P 0.0 B;B;B 0.02656 0.0;0.0;0.0 B;B;B 0.10450 0.002;0.003;0.005 T 0.48222 -0.9054 9 0.48119 T 0.1 -0.6475 4.9717 0.14119 0.3174:0.3919:0.2907:0.0 rs3732215;rs17849558;rs52820320;rs3732215 210;241;295 Q8NCD3-3;Q8NCD3-2;Q8NCD3 .;.;HJURP_HUMAN C 295;241;210;210;254 ENSP00000414109:S295C;ENSP00000407208:S241C;ENSP00000401944:S210C;ENSP00000393253:S210C;ENSP00000414051:S254C ENSP00000414109:S295C S - 2 0 HJURP 234415281 0.000000 0.05858 0.000000 0.03702 0.106000 0.19336 0.044000 0.13992 -0.172000 0.10779 -0.126000 0.14955 TCC NOVEL HJURP-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000130996.6 1 5.718345 KEEP 0 0 0 19 665 GG 0.99986 0.99986 0 - 8 60 289 0 0 18.691992 163 60 6035 221 ENST00000411486.2 0.046784 1 HJURP 55355 __UNKNOWN__ __UNKNOWN__ 2 234761225 234761225 __UNKNOWN__ Missense_Mutation SNP C C T rs2286430 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:234761225C>T ENST00000411486.2 - 3 291 c.226G>A c.(226-228)Gaa>Aaa p.E76K HJURP_ENST00000432087.1_Missense_Mutation_p.E76K|HJURP_ENST00000441687.1_Missense_Mutation_p.E76K NM_018410.3 NP_060880.3 Q8NCD3 HJURP_HUMAN Holliday junction recognition protein 76 NA E -> K (in dbSNP:rs2286430). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17823411, ECO:0000269|Ref.2}. cell cycle (GO:0007049)|CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|nucleosome assembly (GO:0006334)|regulation of DNA binding (GO:0051101)|regulation of protein complex assembly (GO:0043254) chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA binding (GO:0003677)|histone binding (GO:0042393)|identical protein binding (GO:0042802) NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128) Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829) ATCTCTCCTTCGTTTCTTTCC 0.383 NA C||| 1733 0.346046 0.1029 0.5086 5008 , , NA 19534 0.3938 NA 0.5159 False NA ,,, NA NA NA 2504 0.3354 NA NA NA NA 0 C LYS/GLU 717,3689 295.3+/-283.6 64,589,1550 158 128 138 226 -5.3 0 2 dbSNP_100 138 4395,4205 580.7+/-391.1 1123,2149,1028 yes missense HJURP NM_018410.3 56 1187,2738,2578 TT,TC,CC 48.8953,16.2733,39.3049 benign 76/749 234761225 5112,7894 2203 4300 6503 SO:0001583 missense CCDS33406.1, CCDS63166.1, CCDS63167.1 2q37.1 2007-12-06 ENSG00000123485 ENSG00000123485 55355 25444 protein-coding gene gene with protein product 612667 NA 17823411 Standard NM_018410 NM_001282962 NA Approved DKFZp762E1312, URLC9, hFLEG1, FAKTS uc002vvg.3 Q8NCD3 OTTHUMG00000059125 ENST00000411486.2:c.226G>A chr2.hg19:g.234761225C>T ENSP00000414109:p.Glu76Lys NA A8IRH5|B4DWR0|B4DZV4|Q9BUT2|Q9NSL8 hg19 CCDS33406.1 0.02 17.260705 CTTxGTT COVERED 871|871 0.39880952380952384|0.39880952380952384 52|52 0.10569105691056911|0.10569105691056911 177|177 0.4889502762430939|0.4889502762430939 235|235 0.41083916083916083|0.41083916083916083 407|407 0.5369393139841688|0.5369393139841688 C|C 1.323|1.323 -0.598848|-0.598848 0.03744|0.03744 0.162733|0.162733 0.511047|0.511047 ENSG00000123485|ENSG00000123485 ENST00000411486;ENST00000432087;ENST00000441687;ENST00000414924|ENST00000454020 T;T;T;T|T 0.48201|0.36157 0.82;0.82;0.82;0.82|1.27 3.55|3.55 -5.31|-5.31 0.02730|0.02730 Centromere protein Scm3, N-terminal (1);|. 1.405580|. 0.04824|. N|. 0.437524|. T|T 0.00012|0.00012 0.0000|0.0000 N|N 0.08118|0.08118 0|0 0.80722|0.80722 P|P 0.0|0.0 B;B;B|. 0.17268|. 0.017;0.006;0.021|. B;B;B|. 0.12156|. 0.003;0.002;0.007|. T|T 0.45629|0.45629 -0.9248|-0.9248 9|6 0.05620|0.87932 T|D 0.96|0 -0.0036|-0.0036 5.8643|5.8643 0.18767|0.18767 0.0:0.4239:0.3121:0.264|0.0:0.4239:0.3121:0.264 rs2286430;rs11546250;rs61495737;rs2286430|rs2286430;rs11546250;rs61495737;rs2286430 76;76;76|. Q8NCD3-3;Q8NCD3-2;Q8NCD3|. .;.;HJURP_HUMAN|. K|Q 76|67 ENSP00000414109:E76K;ENSP00000407208:E76K;ENSP00000401944:E76K;ENSP00000393253:E76K|ENSP00000414051:R67Q ENSP00000414109:E76K|ENSP00000414051:R67Q E|R -|- 1|2 0|0 HJURP|HJURP 234425964|234425964 0.000000|0.000000 0.05858|0.05858 0.000000|0.000000 0.03702|0.03702 0.461000|0.461000 0.32589|0.32589 -3.158000|-3.158000 0.00579|0.00579 -1.191000|-1.191000 0.02695|0.02695 -0.302000|-0.302000 0.09304|0.09304 GAA|CGA NOVEL HJURP-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000130996.6 2 18.220275 KEEP 0 2 64 83 2801 CC 1 1 0 - 12 60 440 0 0 26.280414 392 60 13963 586 ENST00000411486.2 0.029703 1 HJURP 55355 __UNKNOWN__ __UNKNOWN__ 2 234761355 234761355 __UNKNOWN__ Intron SNP G G A rs554699 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:234761355G>A ENST00000411486.2 - 3 250 HJURP_ENST00000432087.1_Intron|HJURP_ENST00000441687.1_Intron NM_018410.3 NP_060880.3 Q8NCD3 HJURP_HUMAN Holliday junction recognition protein NA NA cell cycle (GO:0007049)|CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|nucleosome assembly (GO:0006334)|regulation of DNA binding (GO:0051101)|regulation of protein complex assembly (GO:0043254) chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA binding (GO:0003677)|histone binding (GO:0042393)|identical protein binding (GO:0042802) NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128) Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829) CAAAGTGACAGGCAAAAAAAA 0.368 NA G||| 2801 0.559305 0.3336 0.683 5008 , , NA 19437 0.7173 NA 0.6889 False NA ,,, NA NA NA 2504 0.4806 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS33406.1, CCDS63166.1, CCDS63167.1 2q37.1 2007-12-06 ENSG00000123485 ENSG00000123485 55355 25444 protein-coding gene gene with protein product 612667 NA 17823411 Standard NM_018410 NM_001282962 NA Approved DKFZp762E1312, URLC9, hFLEG1, FAKTS uc002vvg.3 Q8NCD3 OTTHUMG00000059125 ENST00000411486.2:c.185-89C>T chr2.hg19:g.234761355G>A NA A8IRH5|B4DWR0|B4DZV4|Q9BUT2|Q9NSL8 hg19 CCDS33406.1 0.02 14.288032 ACAxGCA COVERED NOVEL HJURP-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000130996.6 4 13.845184 KEEP 0 0 0 46 1644 GG 1 1 0 - 10 60 386 1 0 24.164158 302 60 11310 423 ENST00000411486.2 0.032051 1 TRPM8 79054 __UNKNOWN__ __UNKNOWN__ 2 234873254 234873254 __UNKNOWN__ Intron SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:234873254C>T ENST00000324695.4 + 14 1789 TRPM8_ENST00000433712.2_Intron NM_024080.4 NP_076985.4 Q7Z2W7 TRPM8_HUMAN transient receptor potential cation channel, subfamily M, member 8 NA NA calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085) endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium channel activity (GO:0005262) breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2) 66 Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224) Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108) Menthol(DB00825) CCTTAAAATTCTTCACCCCCC 0.443 NA NA NA NA NA NA NA NA NA NA NA 0 27 31 30 NA NA 2 NA 234873254 2194 4296 6490 SO:0001627 intron_variant AC005538 CCDS33407.1 2q37 2011-12-14 ENSG00000144481 ENSG00000144481 79054 Voltage-gated ion channels / Transient receptor potential cation channels 17961 protein-coding gene gene with protein product 606678 NA 16382100 Standard NM_024080 NM_024080 NA Approved uc002vvh.3 Q7Z2W7 OTTHUMG00000059129 ENST00000324695.4:c.1750-18C>T chr2.hg19:g.234873254C>T NA A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1 hg19 CCDS33407.1 0.02 2.621379 ATTxTTC COVERED NOVEL TRPM8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000131005.4 19 5.884628 KEEP 0 5 80 49 1621 CC 1 0.999999 0 + 17 60 294 0 0 16.893794 100 60 3418 221 ENST00000324695.4 0.145299 0.999999 SPP2 6694 __UNKNOWN__ __UNKNOWN__ 2 234959637 234959637 __UNKNOWN__ Missense_Mutation SNP T T A rs115788299 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:234959637T>A ENST00000168148.3 + 2 196 c.108T>A c.(106-108)gaT>gaA p.D36E SPP2_ENST00000373368.1_Missense_Mutation_p.D36E|SPP2_ENST00000492481.1_3'UTR NM_006944.2 NP_008875.1 Q13103 SPP24_HUMAN secreted phosphoprotein 2, 24kDa 36 NA bone remodeling (GO:0046849)|negative regulation of endopeptidase activity (GO:0010951)|protein complex assembly (GO:0006461)|skeletal system development (GO:0001501) extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234) endopeptidase inhibitor activity (GO:0004866) breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1) 12 Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182) Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846) ACGACTACGATCCATCCTCCT 0.522 NA T||| 159 0.0317492 0.0 0.0014 5008 , , NA 19501 0.1548 NA 0.0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 T GLU/ASP 0,4406 0,0,2203 144 120 128 108 -4.5 0 2 dbSNP_132 128 2,8598 2.2+/-6.3 0,2,4298 yes missense SPP2 NM_006944.2 45 0,2,6501 AA,AT,TT 0.0233,0.0,0.0154 benign 36/212 234959637 2,13004 2203 4300 6503 SO:0001583 missense CCDS2511.1 2q37.1 2012-08-14 2002-08-29 ENSG00000072080 ENSG00000072080 6694 11256 protein-coding gene gene with protein product 602637 secreted phosphoprotein 2, 24kD NA 9533032 Standard NM_006944 XM_005246102 NA Approved SPP24 uc002vvk.1 Q13103 OTTHUMG00000059208 ENST00000168148.3:c.108T>A chr2.hg19:g.234959637T>A ENSP00000168148:p.Asp36Glu NA A4QMV3|Q3B892|Q546M5 hg19 CCDS2511.1 0.02 4.049784 CGAxCCA COVERED 61 0.027930402930402932 1 0.0020325203252032522 1 0.0027624309392265192 59 0.10314685314685315 0 0.0 T 7.521 0.656765 0.14580 0.0 2.33E-4 ENSG00000072080 ENST00000373368;ENST00000168148 T;T 0.48836 0.8;0.8 5.38 -4.5 0.03493 . 0.142122 0.47852 N 0.000216 T 0.00784 0.0026 L 0.55103 1.725 0.09310 N 1 P 0.47484 0.896 B 0.36922 0.236 T 0.20840 -1.0263 10 0.23891 T 0.37 -24.3821 7.7155 0.28702 0.0:0.3241:0.1153:0.5606 . 36 Q13103 SPP24_HUMAN E 36 ENSP00000362466:D36E;ENSP00000168148:D36E ENSP00000168148:D36E D + 3 2 SPP2 234624376 0.000000 0.05858 0.008000 0.14137 0.030000 0.12068 -1.795000 0.01752 -0.737000 0.04824 -0.417000 0.06048 GAT NOVEL SPP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000131313.3 1 2.974189 KEEP 0 0 0 10 283 TT 0.992708 0.992706 0 + 7 60 251 0 0 16.934767 110 60 3988 135 ENST00000168148.3 0.059829 0.999998 SPP2 6694 __UNKNOWN__ __UNKNOWN__ 2 234969154 234969154 __UNKNOWN__ Intron SNP C C T rs17869099 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:234969154C>T ENST00000168148.3 + 4 532 SPP2_ENST00000373368.1_Intron NM_006944.2 NP_008875.1 Q13103 SPP24_HUMAN secreted phosphoprotein 2, 24kDa NA NA bone remodeling (GO:0046849)|negative regulation of endopeptidase activity (GO:0010951)|protein complex assembly (GO:0006461)|skeletal system development (GO:0001501) extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234) endopeptidase inhibitor activity (GO:0004866) breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1) 12 Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182) Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846) CCTCCCAGACCGCACCTCTTA 0.582 NA C||| 776 0.154952 0.3631 0.0793 5008 , , NA 17978 0.1548 NA 0.0666 False NA ,,, NA NA NA 2504 0.0184 NA NA NA NA 0 C 1296,3110 430.6+/-342.6 200,896,1107 37 31 33 -9.2 0 2 dbSNP_123 33 621,7979 159.4+/-212.7 24,573,3703 no intron SPP2 NM_006944.2 224,1469,4810 TT,TC,CC 7.2209,29.4144,14.7394 234969154 1917,11089 2203 4300 6503 SO:0001627 intron_variant CCDS2511.1 2q37.1 2012-08-14 2002-08-29 ENSG00000072080 ENSG00000072080 6694 11256 protein-coding gene gene with protein product 602637 secreted phosphoprotein 2, 24kD NA 9533032 Standard NM_006944 XM_005246102 NA Approved SPP24 uc002vvk.1 Q13103 OTTHUMG00000059208 ENST00000168148.3:c.444+31C>T chr2.hg19:g.234969154C>T NA A4QMV3|Q3B892|Q546M5 hg19 CCDS2511.1 0.02 4.502212 GACxGCA COVERED NOVEL SPP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000131313.3 1 3.611237 KEEP 0 0 0 12 397 CC 0.993634 0.993627 0 + 6 60 210 0 0 13.73622 105 60 3385 134 ENST00000168148.3 0.054054 0.999994 SH3BP4 23677 __UNKNOWN__ __UNKNOWN__ 2 235950284 235950284 __UNKNOWN__ Silent SNP A A C rs3731648 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:235950284A>C ENST00000409212.1 + 4 1378 c.871A>C c.(871-873)Agg>Cgg p.R291R SH3BP4_ENST00000344528.4_Silent_p.R291R|SH3BP4_ENST00000392011.2_Silent_p.R291R Q9P0V3 SH3B4_HUMAN SH3-domain binding protein 4 291 NA cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790) coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016) p.R291R(1) central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2) 44 Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419) Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237) GCTAAACCACAGGAAGCTGGC 0.582 NA C||| 1494 0.298323 0.2867 0.3256 5008 , , NA 17048 0.4077 NA 0.0915 False NA ,,, NA NA NA 2504 0.3947 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) C 1115,3287 134,847,1220 40 50 46 871 4.6 1 2 dbSNP_107 46 888,7712 47,794,3459 no coding-synonymous SH3BP4 NM_014521.2 181,1641,4679 CC,CA,AA 10.3256,25.3294,15.4053 291/964 235950284 2003,10999 2201 4300 6501 SO:0001819 synonymous_variant AF147747 CCDS2513.1 2q37.1-q37.2 2008-05-15 ENSG00000130147 ENSG00000130147 23677 10826 protein-coding gene gene with protein product 605611 NA 10644451 Standard NM_014521 NA Approved uc002vvp.3 Q9P0V3 OTTHUMG00000133292 ENST00000409212.1:c.871A>C chr2.hg19:g.235950284A>C NA O95082|Q309A3|Q53QD0|Q53TD1 hg19 CCDS2513.1 0.02 14.953855 CACxGGA COVERED NOVEL SH3BP4-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000329763.1 2 30.993177 KEEP 0 0 0 103 3226 AA 1 1 0 + 15 60 539 0 0 33.791704 356 60 13099 574 ENST00000409212.1 0.040431 1 SH3BP4 23677 __UNKNOWN__ __UNKNOWN__ 2 235961972 235961972 __UNKNOWN__ Intron SNP A A G rs7606553 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:235961972A>G ENST00000409212.1 + 6 3174 SH3BP4_ENST00000344528.4_Intron|SH3BP4_ENST00000392011.2_Intron Q9P0V3 SH3B4_HUMAN SH3-domain binding protein 4 NA NA cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790) coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016) central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2) 44 Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419) Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237) TGCCATAAAGATTGTAAGGAA 0.453 NA A||| 335 0.066893 0.1006 0.0303 5008 , , NA 21358 0.0437 NA 0.0487 False NA ,,, NA NA NA 2504 0.09 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF147747 CCDS2513.1 2q37.1-q37.2 2008-05-15 ENSG00000130147 ENSG00000130147 23677 10826 protein-coding gene gene with protein product 605611 NA 10644451 Standard NM_014521 NA Approved uc002vvp.3 Q9P0V3 OTTHUMG00000133292 ENST00000409212.1:c.2668-264A>G chr2.hg19:g.235961972A>G NA O95082|Q309A3|Q53QD0|Q53TD1 hg19 CCDS2513.1 0.02 12.752164 AAGxTTG COVERED NOVEL SH3BP4-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000329763.1 0 12.93912 KEEP 0 0 0 43 1382 AA 1 1 0 + 14 60 508 0 0 32.369406 314 60 11318 449 ENST00000409212.1 0.042683 1 AGAP1 116987 __UNKNOWN__ __UNKNOWN__ 2 236617736 236617736 __UNKNOWN__ Intron SNP C C T rs3754669 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:236617736C>T ENST00000336665.5 + 2 743 AGAP1_ENST00000409457.1_Intron|AGAP1_ENST00000304032.8_Intron|AGAP1_ENST00000409538.1_Intron NM_014914.4 NP_055729.2 Q9UPQ3 AGAP1_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 NA NA protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264) cytoplasm (GO:0005737) ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270) breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 CAGTGACCTTCGGATGTGAAA 0.498 NA C||| 751 0.14996 0.0303 0.3242 5008 , , NA 2714 0.2768 NA 0.1421 False NA ,,, NA NA NA 2504 0.0654 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF413078 CCDS2514.1, CCDS33408.1, CCDS58756.1 2q37 2013-01-10 2008-09-22 2008-09-22 ENSG00000157985 ENSG00000157985 116987 ADP-ribosylation factor GTPase activating proteins, Pleckstrin homology (PH) domain containing, Ankyrin repeat domain containing 16922 protein-coding gene gene with protein product 608651 centaurin, gamma 2 CENTG2 NA Standard NM_014914 NM_001037131 NA Approved KIAA1099, GGAP1 uc002vvs.3 Q9UPQ3 OTTHUMG00000133293 ENST00000336665.5:c.164-87C>T chr2.hg19:g.236617736C>T NA B2RTX7|Q541S5|Q6P9D7|Q9NV93 hg19 CCDS2514.1 0.02 3.983081 CTTxGGA COVERED NOVEL AGAP1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257077.1 0 5.417452 KEEP 0 0 0 18 616 CC 0.999859 0.999859 0 + 5 60 177 0 0 10.788636 131 60 4801 192 ENST00000336665.5 0.036765 1 AGAP1 116987 __UNKNOWN__ __UNKNOWN__ 2 236685731 236685731 __UNKNOWN__ Intron SNP G G C rs113739109 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:236685731G>C ENST00000336665.5 + 7 1253 AGAP1_ENST00000409457.1_Intron|AGAP1_ENST00000428334.2_Intron|AGAP1_ENST00000304032.8_Intron|AGAP1_ENST00000409538.1_Intron NM_014914.4 NP_055729.2 Q9UPQ3 AGAP1_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 NA NA protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264) cytoplasm (GO:0005737) ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270) breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 Tgctgggcgcggtggctcatg 0.542 NA G||| 1115 0.222644 0.1248 0.402 5008 , , NA 17943 0.3214 NA 0.2465 False NA ,,, NA NA NA 2504 0.1012 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF413078 CCDS2514.1, CCDS33408.1, CCDS58756.1 2q37 2013-01-10 2008-09-22 2008-09-22 ENSG00000157985 ENSG00000157985 116987 ADP-ribosylation factor GTPase activating proteins, Pleckstrin homology (PH) domain containing, Ankyrin repeat domain containing 16922 protein-coding gene gene with protein product 608651 centaurin, gamma 2 CENTG2 NA Standard NM_014914 NM_001037131 NA Approved KIAA1099, GGAP1 uc002vvs.3 Q9UPQ3 OTTHUMG00000133293 ENST00000336665.5:c.674-20672G>C chr2.hg19:g.236685731G>C NA B2RTX7|Q541S5|Q6P9D7|Q9NV93 hg19 CCDS2514.1 0.02 1.63458 CGCxGTG COVERED NOVEL AGAP1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257077.1 9 2.481151 KEEP 1 2 74 34 1187 GG 1 0.999678 0 + 6 60 200 0 0 13.418486 80 60 2773 140 ENST00000336665.5 0.069767 0.999678 AGAP1 116987 __UNKNOWN__ __UNKNOWN__ 2 236691982 236691982 __UNKNOWN__ Intron SNP A A G rs1878154 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:236691982A>G ENST00000336665.5 + 7 1253 AGAP1_ENST00000409457.1_Intron|AGAP1_ENST00000428334.2_Intron|AGAP1_ENST00000304032.8_Intron|AGAP1_ENST00000409538.1_Intron NM_014914.4 NP_055729.2 Q9UPQ3 AGAP1_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 NA NA protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264) cytoplasm (GO:0005737) ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270) breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 ATTTAGATGTATGCTTAATGT 0.358 NA A||| 1113 0.222244 0.1248 0.402 5008 , , NA 18967 0.3204 NA 0.2465 False NA ,,, NA NA NA 2504 0.1002 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF413078 CCDS2514.1, CCDS33408.1, CCDS58756.1 2q37 2013-01-10 2008-09-22 2008-09-22 ENSG00000157985 ENSG00000157985 116987 ADP-ribosylation factor GTPase activating proteins, Pleckstrin homology (PH) domain containing, Ankyrin repeat domain containing 16922 protein-coding gene gene with protein product 608651 centaurin, gamma 2 CENTG2 NA Standard NM_014914 NM_001037131 NA Approved KIAA1099, GGAP1 uc002vvs.3 Q9UPQ3 OTTHUMG00000133293 ENST00000336665.5:c.674-14421A>G chr2.hg19:g.236691982A>G NA B2RTX7|Q541S5|Q6P9D7|Q9NV93 hg19 CCDS2514.1 0.02 7.19348 TGTxTGC COVERED 532 0.24358974358974358 51 0.10365853658536585 129 0.356353591160221 168 0.2937062937062937 184 0.24274406332453827 A 6.710 0.499726 0.12762 . . ENSG00000222007 ENST00000440101 . . . 3.3 -0.447 0.12234 . . . . . T 0.00012 0.0000 . . . 0.80722 P 0.0 . . . . . . T 0.35943 -0.9768 4 0.87932 D 0 . 5.8482 0.18677 0.6269:0.0:0.3731:0.0 rs1878154;rs3795894;rs59225937;rs1878154 . . . T 17 . ENSP00000392481:I17T I - 2 0 AC064874.1 236356721 0.000000 0.05858 0.000000 0.03702 0.044000 0.14063 -0.737000 0.04877 -0.080000 0.12685 0.533000 0.62120 ATA NOVEL AGAP1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257077.1 1 5.717446 KEEP 0 0 0 19 600 AA 0.99986 0.99986 0 + 11 60 424 0 0 29.703596 168 60 5958 223 ENST00000336665.5 0.061453 1 AGAP1 116987 __UNKNOWN__ __UNKNOWN__ 2 236708166 236708166 __UNKNOWN__ Splice_Site SNP C C T rs2292708 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:236708166C>T ENST00000336665.5 + 8 1537 c.957C>T c.(955-957)acC>acT p.T319T AGAP1_ENST00000409457.1_Splice_Site_p.T319T|AGAP1_ENST00000428334.2_Splice_Site_p.T158T|AGAP1_ENST00000304032.8_Splice_Site_p.T319T|AGAP1_ENST00000409538.1_Splice_Site_p.T584T NM_014914.4 NP_055729.2 Q9UPQ3 AGAP1_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 319 NA protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264) cytoplasm (GO:0005737) ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270) p.T319T(1) breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 ACCTGTTCACCGTGAGTGTCA 0.542 NA C||| 960 0.191693 0.0295 0.4063 5008 , , NA 18911 0.2708 NA 0.2624 False NA ,,, NA NA NA 2504 0.1043 NA NA NA NA 1 Substitution - coding silent(1) prostate(1) C , 293,4113 159.6+/-192.1 14,265,1924 94 79 84 957,957 -2 1 2 dbSNP_100 84 2504,6096 412.1+/-350.7 374,1756,2170 yes coding-synonymous-near-splice,coding-synonymous-near-splice AGAP1 NM_001037131.2,NM_014914.4 , 388,2021,4094 TT,TC,CC 29.1163,6.65,21.5055 , 319/858,319/805 236708166 2797,10209 2203 4300 6503 SO:0001630 splice_region_variant AF413078 CCDS2514.1, CCDS33408.1, CCDS58756.1 2q37 2013-01-10 2008-09-22 2008-09-22 ENSG00000157985 ENSG00000157985 116987 ADP-ribosylation factor GTPase activating proteins, Pleckstrin homology (PH) domain containing, Ankyrin repeat domain containing 16922 protein-coding gene gene with protein product 608651 centaurin, gamma 2 CENTG2 NA Standard NM_014914 NM_001037131 NA Approved KIAA1099, GGAP1 uc002vvs.3 Q9UPQ3 OTTHUMG00000133293 ENST00000336665.5:c.957+1C>T chr2.hg19:g.236708166C>T NA B2RTX7|Q541S5|Q6P9D7|Q9NV93 hg19 CCDS2514.1 0.02 12.997147 CACxGTG COVERED NOVEL AGAP1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257077.1 1 24.076283 KEEP 0 0 0 80 2708 CC 1 1 0 Silent + 17 60 637 0 0 42.664221 316 60 11106 511 ENST00000336665.5 0.051051 1 IQCA1 79781 __UNKNOWN__ __UNKNOWN__ 2 237233400 237233400 __UNKNOWN__ Silent SNP A A G rs117511114 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:237233400A>G ENST00000409907.3 - 19 2674 c.2400T>C c.(2398-2400)ggT>ggC p.G800G IQCA1_ENST00000309507.5_Silent_p.G797G|IQCA1_ENST00000431676.2_Silent_p.G759G NM_024726.4 NP_079002.3 Q86XH1 IQCA1_HUMAN IQ motif containing with AAA domain 1 800 NA ATP binding (GO:0005524) cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1) 26 CACGTTTTTTACCCAGAGGAG 0.373 NA A||| 115 0.0229633 0.0 0.0 5008 , , NA 20006 0.0883 NA 0.0 False NA ,,, NA NA NA 2504 0.0266 NA NA NA NA 0 A 1,3733 0,1,1866 57 50 52 2400 -9.9 0 2 dbSNP_132 52 3,8205 0,3,4101 no coding-synonymous IQCA1 NM_024726.3 0,4,5967 GG,GA,AA 0.0365,0.0268,0.0335 800/823 237233400 4,11938 1867 4104 5971 SO:0001819 synonymous_variant AK026180 CCDS46549.1, CCDS59441.1, CCDS74677.1 2q37.3 2014-07-18 2008-07-02 2008-07-02 ENSG00000132321 ENSG00000132321 79781 ATPases / AAA-type 26195 protein-coding gene gene with protein product dynein regulatory complex subunit 11 IQ motif containing with AAA domain IQCA NA 23427265 Standard NM_024726 NM_024726 NA Approved FLJ22527, DRC11 uc002vwb.3 Q86XH1 OTTHUMG00000153058 ENST00000409907.3:c.2400T>C chr2.hg19:g.237233400A>G NA B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680 hg19 CCDS46549.1 0.02 15.287228 TTTxCCC COVERED NOVEL IQCA1-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000329266.1 2 16.847278 KEEP 0 0 0 56 1686 AA 1 1 0 - 12 60 481 0 0 31.758413 299 60 10518 476 ENST00000409907.3 0.038585 1 COL6A3 1293 __UNKNOWN__ __UNKNOWN__ 2 238275360 238275360 __UNKNOWN__ Missense_Mutation SNP G G A rs114131542 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:238275360G>A ENST00000295550.4 - 11 5922 c.5470C>T c.(5470-5472)Ctt>Ttt p.L1824F COL6A3_ENST00000346358.4_Missense_Mutation_p.L1624F|COL6A3_ENST00000472056.1_Missense_Mutation_p.L1217F|COL6A3_ENST00000409809.1_Missense_Mutation_p.L1618F|COL6A3_ENST00000347401.3_Missense_Mutation_p.L1623F|COL6A3_ENST00000353578.4_Missense_Mutation_p.L1618F NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1824 Nonhelical region. NA axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749) collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982) serine-type endopeptidase inhibitor activity (GO:0004867) breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CCAGGGCAAAGGGTTTCATGC 0.507 NA G||| 7 0.00139776 0.0 0.0 5008 , , NA 22404 0.0069 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 135 123 127 NA NA 2 NA 238275360 2203 4300 6503 SO:0001583 missense X52022 CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1 2q37 2014-09-17 ENSG00000163359 ENSG00000163359 1293 Collagens 2213 protein-coding gene gene with protein product 120250 NA 1339440, 11992252 Standard NM_004369 NM_004369 NA Approved uc002vwl.2 P12111 OTTHUMG00000150020 ENST00000295550.4:c.5470C>T chr2.hg19:g.238275360G>A ENSP00000295550:p.Leu1824Phe NA A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6 hg19 CCDS33412.1 0.02 27.655255 AAAxGGT COVERED 3 0.0013736263736263737 0 0.0 0 0.0 3 0.005244755244755245 0 0.0 G 6.492 0.458960 0.12342 . . ENSG00000163359 ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358 D;D;D;D;D;D 0.89939 -2.59;-2.59;-2.54;-2.54;-2.54;-2.54 5.19 -3.55 0.04639 . 0.000000 0.40064 N 0.001195 D 0.90157 0.6924 M 0.75447 2.3 0.21147 N 0.999779 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.91635 0.999;0.999;0.976 D 0.87062 0.2154 10 0.62326 D 0.03 . 14.5758 0.68246 0.3581:0.0:0.6419:0.0 . 1217;1618;1824 E9PFQ6;P12111-2;P12111 .;.;CO6A3_HUMAN F 1824;1623;1618;1217;1618;1624 ENSP00000295550:L1824F;ENSP00000315609:L1623F;ENSP00000315873:L1618F;ENSP00000418285:L1217F;ENSP00000386844:L1618F;ENSP00000295546:L1624F ENSP00000295550:L1824F L - 1 0 COL6A3 237940099 0.008000 0.16893 0.079000 0.20413 0.079000 0.17450 0.037000 0.13840 -0.513000 0.06496 -0.300000 0.09419 CTT NOVEL COL6A3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000315790.2 8 50.543832 KEEP 0 0 0 168 5955 GG 1 1 0 - 20 60 736 0 0 44.239665 640 60 24364 1000 ENST00000295550.4 0.030303 1 COL6A3 1293 __UNKNOWN__ __UNKNOWN__ 2 238277573 238277573 __UNKNOWN__ Silent SNP C C A rs2645774 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:238277573C>A ENST00000295550.4 - 10 4985 c.4533G>T c.(4531-4533)ggG>ggT p.G1511G COL6A3_ENST00000346358.4_Silent_p.G1311G|COL6A3_ENST00000472056.1_Silent_p.G904G|COL6A3_ENST00000409809.1_Silent_p.G1305G|COL6A3_ENST00000347401.3_Silent_p.G1310G|COL6A3_ENST00000353578.4_Silent_p.G1305G NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1511 Nonhelical region.|VWFA 8. {ECO:0000255|PROSITE- ProRule:PRU00219}. NA axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749) collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982) serine-type endopeptidase inhibitor activity (GO:0004867) breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) TCAGTGGGGACCCCCCTCTGA 0.562 NA C||| 1330 0.265575 0.295 0.3084 5008 , , NA 18618 0.256 NA 0.2177 False NA ,,, NA NA NA 2504 0.2546 NA NA NA NA 0 C ,, 1224,3182 421.5+/-339.4 163,898,1142 47 48 48 4533,2712,3915 -5.6 0 2 dbSNP_100 48 1824,6776 321.3+/-315.0 208,1408,2684 no coding-synonymous,coding-synonymous,coding-synonymous COL6A3 NM_004369.3,NM_057166.4,NM_057167.3 ,, 371,2306,3826 AA,AC,CC 21.2093,27.7803,23.4353 ,, 1511/3178,904/2571,1305/2972 238277573 3048,9958 2203 4300 6503 SO:0001819 synonymous_variant X52022 CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1 2q37 2014-09-17 ENSG00000163359 ENSG00000163359 1293 Collagens 2213 protein-coding gene gene with protein product 120250 NA 1339440, 11992252 Standard NM_004369 NM_004369 NA Approved uc002vwl.2 P12111 OTTHUMG00000150020 ENST00000295550.4:c.4533G>T chr2.hg19:g.238277573C>A NA A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6 hg19 CCDS33412.1 0.02 7.587185 GGAxCCC COVERED NOVEL COL6A3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000315790.2 3 22.874162 KEEP 0 0 0 76 2670 CC 1 1 0 - 8 60 269 0 0 15.404506 239 60 8761 382 ENST00000295550.4 0.032389 1 COL6A3 1293 __UNKNOWN__ __UNKNOWN__ 2 238283605 238283605 __UNKNOWN__ Silent SNP G G A rs12622093 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:238283605G>A ENST00000295550.4 - 8 3581 c.3129C>T c.(3127-3129)ggC>ggT p.G1043G COL6A3_ENST00000346358.4_Silent_p.G843G|COL6A3_ENST00000392004.3_Silent_p.G837G|COL6A3_ENST00000472056.1_Silent_p.G436G|COL6A3_ENST00000409809.1_Silent_p.G837G|COL6A3_ENST00000392003.2_Silent_p.G636G|COL6A3_ENST00000347401.3_Silent_p.G842G|COL6A3_ENST00000353578.4_Silent_p.G837G NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1043 Nonhelical region.|VWFA 6. {ECO:0000255|PROSITE- ProRule:PRU00219}. NA axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749) collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982) serine-type endopeptidase inhibitor activity (GO:0004867) breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) ACAGAGGGAAGCCGCTCCTGA 0.587 NA G||| 1081 0.215855 0.1082 0.2536 5008 , , NA 19171 0.2698 NA 0.2465 False NA ,,, NA NA NA 2504 0.2474 NA NA NA NA 0 G ,,,, 568,3838 248.7+/-256.4 42,484,1677 46 49 48 3129,1908,2511,1308,2511 1.2 0.9 2 dbSNP_120 48 2008,6592 348.4+/-327.0 244,1520,2536 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous COL6A3 NM_004369.3,NM_057164.4,NM_057165.4,NM_057166.4,NM_057167.3 ,,,, 286,2004,4213 AA,AG,GG 23.3488,12.8915,19.8062 ,,,, 1043/3178,636/1037,837/1238,436/2571,837/2972 238283605 2576,10430 2203 4300 6503 SO:0001819 synonymous_variant X52022 CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1 2q37 2014-09-17 ENSG00000163359 ENSG00000163359 1293 Collagens 2213 protein-coding gene gene with protein product 120250 NA 1339440, 11992252 Standard NM_004369 NM_004369 NA Approved uc002vwl.2 P12111 OTTHUMG00000150020 ENST00000295550.4:c.3129C>T chr2.hg19:g.238283605G>A NA A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6 hg19 CCDS33412.1 0.02 17.318173 GAAxCCG COVERED NOVEL COL6A3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000315790.2 10 50.136133 KEEP 0 1 26 176 6368 GG 1 1 0 - 16 60 545 0 0 32.120442 438 60 16536 802 ENST00000295550.4 0.035242 1 UBE2F 140739 __UNKNOWN__ __UNKNOWN__ 2 238933882 238933882 __UNKNOWN__ Intron SNP T T C rs554527211 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:238933882T>C ENST00000272930.4 + 6 476 UBE2F_ENST00000414443.1_Intron|UBE2F_ENST00000409953.1_Intron|UBE2F_ENST00000409332.1_Intron|UBE2F_ENST00000409633.1_Intron|UBE2F-SCLY_ENST00000449191.1_Intron NM_001278305.1|NM_080678.2 NP_001265234.1|NP_542409.1 Q969M7 UBE2F_HUMAN ubiquitin-conjugating enzyme E2F (putative) NA NA protein neddylation (GO:0045116) ATP binding (GO:0005524)|NEDD8 ligase activity (GO:0019788) endometrium(1)|large_intestine(1) 2 Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;6.7e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|Kidney(56;3.53e-09)|KIRC - Kidney renal clear cell carcinoma(57;9.79e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000136)|Lung(119;0.0126)|LUSC - Lung squamous cell carcinoma(224;0.0301) GAGTCAGCCATGAAACAAGCG 0.517 NA T||| 1 0.000199681 0.0 0.0 5008 , , NA 22223 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC010549 CCDS2523.1, CCDS63175.1, CCDS63176.1, CCDS63177.1 2q37.3 2008-02-05 2005-12-15 ENSG00000184182 ENSG00000184182 140739 Ubiquitin-conjugating enzymes E2 12480 protein-coding gene gene with protein product NEDD8 conjugating enzyme NA 12477932 Standard NM_080678 NM_080678 NA Approved NCE2 uc031rrz.1 Q969M7 OTTHUMG00000133341 ENST00000272930.4:c.283-101T>C chr2.hg19:g.238933882T>C NA A8K1Z8|B4DDT9|B4DFI1|B4DMK3|B4DZU2|B8ZZG2|C9J212|H9KVB9 hg19 CCDS2523.1 0.02 6.730239 CCAxGAA COVERED NOVEL UBE2F-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257171.2 2 6.618937 KEEP 0 0 0 22 667 TT 0.999879 0.999879 0 + 6 60 225 0 0 14.391357 146 60 5322 203 ENST00000272930.4 0.039474 1 SCLY 51540 __UNKNOWN__ __UNKNOWN__ 2 239003260 239003260 __UNKNOWN__ Intron SNP G G C rs531977849|rs41270749 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:239003260G>C ENST00000254663.6 + 10 1274 SCLY_ENST00000422984.2_Intron|SCLY_ENST00000429612.2_Intron|SCLY_ENST00000555827.1_Intron NM_016510.5 NP_057594.4 Q96I15 SCLY_HUMAN selenocysteine lyase NA NA cellular amino acid metabolic process (GO:0006520) cytosol (GO:0005829) pyridoxal phosphate binding (GO:0030170)|selenocysteine lyase activity (GO:0009000)|transferase activity (GO:0016740) endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1) 22 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285) GCCCTGCCCTGAGCATGACAC 0.662 NA G||| 566 0.113019 0.1876 0.049 5008 , , NA 16729 0.2133 NA 0.0358 False NA ,,, NA NA NA 2504 0.0337 NA NA NA Melanoma(24;424 891 11947 32582 36034)|Ovarian(46;648 1065 26199 32764 45893) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF175767 CCDS2524.1, CCDS2524.2 2q37.3 2008-02-05 ENSG00000132330 ENSG00000132330 51540 18161 protein-coding gene gene with protein product putative selenocysteine lyase 611056 NA 10692412 Standard NM_016510 NM_016510 NA Approved SCL uc010fyv.4 Q96I15 OTTHUMG00000133336 ENST00000254663.6:c.1132+97G>C chr2.hg19:g.239003260G>C NA B9A068|J3KN06|Q53SN1|Q53SN8|Q7L670|Q9NVT7|Q9NZR7 hg19 CCDS2524.2 0.02 1.9245 CCTxAGC COVERED NOVEL SCLY-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000257165.3 1 3.912209 KEEP 0 0 0 13 447 GG 0.994391 0.994118 0 + 4 60 149 0 0 9.764292 83 60 3125 106 ENST00000254663.6 0.045977 0.999726 SCLY 51540 __UNKNOWN__ __UNKNOWN__ 2 239007850 239007850 __UNKNOWN__ 3'UTR SNP T T A rs1054641 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:239007850T>A ENST00000254663.6 + 0 2358 SCLY_ENST00000555827.1_3'UTR NM_016510.5 NP_057594.4 Q96I15 SCLY_HUMAN selenocysteine lyase NA NA cellular amino acid metabolic process (GO:0006520) cytosol (GO:0005829) pyridoxal phosphate binding (GO:0030170)|selenocysteine lyase activity (GO:0009000)|transferase activity (GO:0016740) endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1) 22 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285) GACTCAGCTTTTACCTTAATT 0.433 NA T||| 1790 0.357428 0.1581 0.4712 5008 , , NA 18158 0.1637 NA 0.5905 False NA ,,, NA NA NA 2504 0.5061 NA NA NA Melanoma(24;424 891 11947 32582 36034)|Ovarian(46;648 1065 26199 32764 45893) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF175767 CCDS2524.1, CCDS2524.2 2q37.3 2008-02-05 ENSG00000132330 ENSG00000132330 51540 18161 protein-coding gene gene with protein product putative selenocysteine lyase 611056 NA 10692412 Standard NM_016510 NM_016510 NA Approved SCL uc010fyv.4 Q96I15 OTTHUMG00000133336 ENST00000254663.6:c.*854T>A chr2.hg19:g.239007850T>A NA B9A068|J3KN06|Q53SN1|Q53SN8|Q7L670|Q9NVT7|Q9NZR7 hg19 CCDS2524.2 0.02 23.779313 CTTxTAC COVERED NOVEL SCLY-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000257165.3 7 11.773677 KEEP 0 2 56 59 1811 TT 1 1 0 + 17 60 624 0 0 37.211688 562 70 20519 797 ENST00000254663.6 0.029361 1 SCLY 51540 __UNKNOWN__ __UNKNOWN__ 2 239007991 239007991 __UNKNOWN__ 3'UTR SNP T T A rs15787 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:239007991T>A ENST00000254663.6 + 0 2499 SCLY_ENST00000555827.1_3'UTR NM_016510.5 NP_057594.4 Q96I15 SCLY_HUMAN selenocysteine lyase NA NA cellular amino acid metabolic process (GO:0006520) cytosol (GO:0005829) pyridoxal phosphate binding (GO:0030170)|selenocysteine lyase activity (GO:0009000)|transferase activity (GO:0016740) endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1) 22 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285) AAGGAACTACTTGATGATTTT 0.408 NA A||| 1883 0.375998 0.2201 0.4784 5008 , , NA 18433 0.1627 NA 0.5974 False NA ,,, NA NA NA 2504 0.5061 NA NA NA Melanoma(24;424 891 11947 32582 36034)|Ovarian(46;648 1065 26199 32764 45893) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF175767 CCDS2524.1, CCDS2524.2 2q37.3 2008-02-05 ENSG00000132330 ENSG00000132330 51540 18161 protein-coding gene gene with protein product putative selenocysteine lyase 611056 NA 10692412 Standard NM_016510 NM_016510 NA Approved SCL uc010fyv.4 Q96I15 OTTHUMG00000133336 ENST00000254663.6:c.*995T>A chr2.hg19:g.239007991T>A NA B9A068|J3KN06|Q53SN1|Q53SN8|Q7L670|Q9NVT7|Q9NZR7 hg19 CCDS2524.2 0.02 21.605351 TACxTGA COVERED 852 0.3901098901098901 130 0.26422764227642276 184 0.5082872928176796 82 0.14335664335664336 456 0.6015831134564644 A 4.058 0.008545 0.07912 . . ENSG00000132330 ENST00000437134 . . . 3.18 2.01 0.26516 . . . . . T 0.00012 0.0000 . . . 0.80722 P 0.0 . . . . . . T 0.42464 -0.9450 3 . . . . 2.7642 0.05315 0.6544:0.0:0.1246:0.2211 rs15787;rs3195159;rs17816104;rs60406142;rs15787 . . . M 251 . . L + 1 2 SCLY 238672730 0.000000 0.05858 0.000000 0.03702 0.005000 0.04900 -0.818000 0.04467 0.152000 0.19188 -0.257000 0.10917 TTG NOVEL SCLY-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000257165.3 0 9.393583 KEEP 0 2 59 52 1679 TT 1 1 0 + 15 60 562 1 0 33.993225 494 60 17966 674 ENST00000254663.6 0.02947 1 KLHL30 377007 __UNKNOWN__ __UNKNOWN__ 2 239049540 239049540 __UNKNOWN__ Missense_Mutation SNP G G A rs2241985 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:239049540G>A ENST00000409223.1 + 2 252 c.145G>A c.(145-147)Ggc>Agc p.G49S KLHL30_ENST00000305959.4_Missense_Mutation_p.G31S Q0D2K2 KLH30_HUMAN kelch-like family member 30 49 BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}. NA G -> S (in Ref. 4; AAI05697). {ECO:0000305}. lung(4) 4 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253) ATGCCACCGCGGCCTCCTGGC 0.697 NA G||| 1935 0.386382 0.3812 0.4006 5008 , , NA 17698 0.3938 NA 0.3847 False NA ,,, NA NA NA 2504 0.3773 NA NA NA NA 0 G SER/GLY 1662,2602 333,996,803 40 48 46 145 1.3 1 2 dbSNP_98 46 3261,5177 633,1995,1591 yes missense KLHL30 NM_198582.3 56 966,2991,2394 AA,AG,GG 38.6466,38.9775,38.7577 benign 49/579 239049540 4923,7779 2132 4219 6351 SO:0001583 missense CCDS46555.1, CCDS46555.2 2q37.3 2013-02-22 2013-02-22 ENSG00000168427 ENSG00000168427 377007 Kelch-like, BTB/POZ domain containing 24770 protein-coding gene gene with protein product kelch-like 30 (Drosophila) NA Standard NM_198582 NM_198582 NA Approved FLJ43374 uc002vxr.2 Q0D2K2 OTTHUMG00000152905 ENST00000409223.1:c.145G>A chr2.hg19:g.239049540G>A ENSP00000386389:p.Gly49Ser NA Q6ZUS1 hg19 CCDS46555.2 0.02 10.253038 CGCxGCC COVERED 848 0.3882783882783883 194 0.3943089430894309 150 0.4143646408839779 213 0.3723776223776224 291 0.3839050131926121 G 6.300 0.423477 0.11928 0.389775 0.386466 ENSG00000168427 ENST00000409223;ENST00000305959 T;T 0.66280 -0.2;-0.2 5.66 1.26 0.21427 BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2); 0.378699 0.28958 N 0.013586 T 0.00012 0.0000 N 0.01529 -0.815 0.80722 P 0.0 B 0.23937 0.094 B 0.23018 0.043 T 0.42682 -0.9437 9 0.46703 T 0.11 . 7.8189 0.29276 0.485:0.0:0.515:0.0 rs2241985;rs2241985 49 Q0D2K2 KLH30_HUMAN S 49;31 ENSP00000386389:G49S;ENSP00000302386:G31S ENSP00000302386:G31S G + 1 0 KLHL30 238714279 0.319000 0.24607 0.963000 0.40424 0.927000 0.56198 0.962000 0.29280 0.329000 0.23460 -0.218000 0.12543 GGC NOVEL KLHL30-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000328518.1 1 24.91108 KEEP 0 1 32 94 3188 GG 1 1 0 + 9 60 317 0 0 18.69691 274 60 9407 480 ENST00000409223.1 0.031802 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 239075812 239075812 __UNKNOWN__ IGR SNP C C T rs3795905 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:239075812C>T NA NA FAM132B (117 upstream) : ILKAP (3229 downstream) NA NA NA GGAACTCTGCCCACACTGGCC 0.607 NA C||| 1317 0.262979 0.1861 0.2622 5008 , , NA 18953 0.2044 NA 0.339 False NA ,,, NA NA NA 2504 0.3497 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.239075812C>T NA hg19 0.02 13.281662 TGCxCAC COVERED 571 0.26144688644688646 103 0.20934959349593496 95 0.26243093922651933 116 0.20279720279720279 257 0.3390501319261214 C 12.67 2.006670 0.35415 . . ENSG00000229377 ENST00000408994 . . . 4.16 -0.335 0.12662 . . . . . T 0.00012 0.0000 . . . 0.80722 P 0.0 . . . . . . T 0.34775 -0.9815 3 . . . . 11.1762 0.48601 0.6373:0.3627:0.0:0.0 rs3795905;rs59560191;rs3795905 . . . S 22 . . P + 1 0 AC016757.1 238740551 0.000000 0.05858 0.000000 0.03702 0.089000 0.18198 -0.244000 0.08903 -0.192000 0.10432 0.561000 0.74099 CCA NOVEL 0 0 13.543653 KEEP 0 0 0 45 1577 CC 1 1 0 10 60 358 0 0 21.375939 302 60 11102 417 0.032051 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 2 239075935 239075935 __UNKNOWN__ IGR SNP A A G rs3820817 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:239075935A>G NA NA FAM132B (240 upstream) : ILKAP (3106 downstream) NA NA NA CTTATCCAGGAAAGAAAGAGT 0.627 NA A||| 3139 0.626797 0.6309 0.6282 5008 , , NA 19657 0.6746 NA 0.5954 False NA ,,, NA NA NA 2504 0.6033 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr2.hg19:g.239075935A>G NA hg19 0.02 16.822236 AGGxAAG COVERED NOVEL 0 2 16.484705 KEEP 0 1 35 67 2103 AA 1 1 0 19 60 690 0 0 44.989717 379 60 13533 535 0.047739 1 ILKAP 80895 __UNKNOWN__ __UNKNOWN__ 2 239102856 239102856 __UNKNOWN__ Intron SNP A A G rs3795903 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:239102856A>G ENST00000254654.3 - 3 354 NM_030768.2 NP_110395.1 Q9H0C8 ILKAP_HUMAN integrin-linked kinase-associated serine/threonine phosphatase NA NA protein dephosphorylation (GO:0006470)|regulation of nuclear cell cycle DNA replication (GO:0033262) cytoplasm (GO:0005737) metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722) endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163) TAAATTTCACATAAGAGTAAA 0.353 NA A||| 1316 0.26278 0.1921 0.2622 5008 , , NA 18671 0.1935 NA 0.34 False NA ,,, NA NA NA 2504 0.3507 NA NA NA NA 0 A 269,1115 30,209,453 30 25 27 -2.9 0 2 dbSNP_107 27 1028,2154 166,696,729 no intron ILKAP NM_030768.2 196,905,1182 GG,GA,AA 32.3067,19.4364,28.4056 239102856 1297,3269 692 1591 2283 SO:0001627 intron_variant AY024365 CCDS2526.1 2q37.3 2012-04-17 2010-10-25 ENSG00000132323 ENSG00000132323 80895 3.1.3.16 Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent 15566 protein-coding gene gene with protein product integrin-linked kinase-associated serine/threonine phosphatase 2C NA Standard NM_030768 NM_030768 NA Approved DKFZP434J2031, FLJ10181 uc002vxv.3 Q9H0C8 OTTHUMG00000133334 ENST00000254654.3:c.178+59T>C chr2.hg19:g.239102856A>G NA B3KM39 hg19 CCDS2526.1 0.02 5.48835 CACxTAA COVERED NOVEL ILKAP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257163.2 2 9.027901 KEEP 0 0 0 30 964 AA 0.999997 0.999997 0 - 9 60 303 0 0 19.087234 171 60 6177 236 ENST00000254654.3 0.05 1 ILKAP 80895 __UNKNOWN__ __UNKNOWN__ 2 239103603 239103603 __UNKNOWN__ Intron SNP C C G rs7558210 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:239103603C>G ENST00000254654.3 - 2 231 ILKAP_ENST00000490837.1_Intron NM_030768.2 NP_110395.1 Q9H0C8 ILKAP_HUMAN integrin-linked kinase-associated serine/threonine phosphatase NA NA protein dephosphorylation (GO:0006470)|regulation of nuclear cell cycle DNA replication (GO:0033262) cytoplasm (GO:0005737) metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722) endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163) CCTGCTTTGACACAAGTTTGC 0.363 NA G||| 1299 0.259385 0.1823 0.2594 5008 , , NA 18865 0.1935 NA 0.339 False NA ,,, NA NA NA 2504 0.3497 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY024365 CCDS2526.1 2q37.3 2012-04-17 2010-10-25 ENSG00000132323 ENSG00000132323 80895 3.1.3.16 Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent 15566 protein-coding gene gene with protein product integrin-linked kinase-associated serine/threonine phosphatase 2C NA Standard NM_030768 NM_030768 NA Approved DKFZP434J2031, FLJ10181 uc002vxv.3 Q9H0C8 OTTHUMG00000133334 ENST00000254654.3:c.56-92G>C chr2.hg19:g.239103603C>G NA B3KM39 hg19 CCDS2526.1 0.02 7.985594 TGAxACA COVERED NOVEL ILKAP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257163.2 0 16.252836 KEEP 0 0 0 54 1907 CC 1 1 0 - 7 60 257 0 0 15.217534 240 60 9260 360 ENST00000254654.3 0.02834 1 PER2 8864 __UNKNOWN__ __UNKNOWN__ 2 239184581 239184581 __UNKNOWN__ Intron SNP G G A rs10462023 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:239184581G>A ENST00000254657.3 - 4 573 PER2_ENST00000440245.1_Intron|PER2_ENST00000355768.2_Intron|PER2_ENST00000254658.3_Intron NM_022817.2 NP_073728.1 O15055 PER2_HUMAN period circadian clock 2 NA NA circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872) cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471) pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130) NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244) Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161) TAGCTTCCTAGGTGTCCTTTC 0.478 NA G||| 1130 0.225639 0.0393 0.2522 5008 , , NA 20460 0.2292 NA 0.3628 False NA ,,, NA NA NA 2504 0.3139 NA NA NA NA 0 G 409,3997 184.7+/-212.0 16,377,1810 100 98 99 -3.6 0 2 dbSNP_119 99 3207,5393 457.2+/-364.3 590,2027,1683 no intron PER2 NM_022817.2 606,2404,3493 AA,AG,GG 37.2907,9.2828,27.8026 239184581 3616,9390 2203 4300 6503 SO:0001627 intron_variant AB002345 CCDS2528.1 2q37.3 2012-12-13 2012-12-13 ENSG00000132326 ENSG00000132326 8864 8846 protein-coding gene gene with protein product 603426 period (Drosophila) homolog 2, period homolog 2 (Drosophila) NA 9427249, 17218255 Standard NM_022817 NM_022817 NA Approved KIAA0347 uc002vyc.3 O15055 OTTHUMG00000152884 ENST00000254657.3:c.294-43C>T chr2.hg19:g.239184581G>A NA A2I2P7|Q4ZG49|Q6DT41|Q9UQ45 hg19 CCDS2528.1 0.02 4.403381 CTAxGTG COVERED NOVEL PER2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257167.1 0 11.974008 KEEP 0 1 32 51 1814 GG 1 1 0 - 5 60 188 0 0 11.744521 140 60 5102 241 ENST00000254657.3 0.034483 1 HDAC4 9759 __UNKNOWN__ __UNKNOWN__ 2 239974928 239974928 __UNKNOWN__ Intron SNP A A C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:239974928A>C ENST00000345617.3 - 27 4007 HDAC4_ENST00000543185.1_Intron NM_006037.3 NP_006028.2 P56524 HDAC4_HUMAN histone deacetylase 4 NA NA B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351) A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018) activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270) NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5) 62 all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159) Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04) GTGCTGCCCCACCCGCCAGCC 0.622 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB006626 CCDS2529.1 2q37.3 2014-02-12 ENSG00000068024 ENSG00000068024 9759 14063 protein-coding gene gene with protein product 605314 brachydactyly-mental retardation syndrome BDMR NA 10206986, 10220385, 20691407 Standard NM_006037 NM_006037 NA Approved KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4 uc002vyk.4 P56524 OTTHUMG00000133344 ENST00000345617.3:c.3216-96T>G chr2.hg19:g.239974928A>C NA Q9UND6 hg19 CCDS2529.1 0.02 2.426556 CCCxCCC COVERED NOVEL HDAC4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257174.2 0 2.942881 KEEP 0 0 0 10 240 AA 0.992708 0.992708 0 - 29 60 276 0 0 9.47588 140 60 3294 219 ENST00000345617.3 0.171598 1 HDAC4 9759 __UNKNOWN__ __UNKNOWN__ 2 240273360 240273360 __UNKNOWN__ Intron SNP C C T rs62182143 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:240273360C>T ENST00000345617.3 - 2 814 NM_006037.3 NP_006028.2 P56524 HDAC4_HUMAN histone deacetylase 4 NA NA B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351) A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018) activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270) NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5) 62 all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159) Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04) CAGACAAAGACGATTCCACCC 0.423 NA C||| 381 0.0760783 0.0113 0.1196 5008 , , NA 20324 0.0496 NA 0.2058 False NA ,,, NA NA NA 2504 0.0266 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB006626 CCDS2529.1 2q37.3 2014-02-12 ENSG00000068024 ENSG00000068024 9759 14063 protein-coding gene gene with protein product 605314 brachydactyly-mental retardation syndrome BDMR NA 10206986, 10220385, 20691407 Standard NM_006037 NM_006037 NA Approved KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4 uc002vyk.4 P56524 OTTHUMG00000133344 ENST00000345617.3:c.22+1012G>A chr2.hg19:g.240273360C>T NA Q9UND6 hg19 CCDS2529.1 0.02 13.120739 AGAxGAT COVERED NOVEL HDAC4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257174.2 1 23.644182 KEEP 0 2 64 101 3503 CC 1 1 0 - 9 60 342 0 0 20.691345 311 60 11130 550 ENST00000345617.3 0.028125 1 AC062017.1 0 __UNKNOWN__ __UNKNOWN__ 2 240323661 240323661 __UNKNOWN__ Intron SNP C C A rs1709851 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:240323661C>A ENST00000409526.1 + 2 101 NA NA NA TGTTGAGTTACAGGTCGGCCC 0.642 NA A||| 3815 0.761781 0.6876 0.7695 5008 , , NA 14939 0.9395 NA 0.6561 False NA ,,, NA NA NA 2504 0.7822 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000409526.1:c.-4-108C>A chr2.hg19:g.240323661C>A NA hg19 0.02 12.533896 TTAxAGG COVERED 1665 0.7623626373626373 359 0.7296747967479674 271 0.7486187845303868 539 0.9423076923076923 496 0.6543535620052771 A 11.86 1.765532 0.31228 . . ENSG00000222020 ENST00000413029 . . . 1.13 -1.22 0.09494 . . . . . T 0.00012 0.0000 . . . . . . . . . . . . T 0.18147 -1.0346 3 . . . . 3.5787 0.07943 0.2406:0.5638:0.0:0.1956 rs1709851;rs3817296;rs56856146;rs1709851 . . . K 55 . . Q + 1 0 AC062017.1 239988598 0.000000 0.05858 0.000000 0.03702 0.006000 0.05464 -1.987000 0.01483 -1.098000 0.03038 -1.148000 0.01847 CAG NOVEL AC062017.1-001 PUTATIVE basic|appris_principal protein_coding NA protein_coding OTTHUMT00000327198.1 1 52.538666 KEEP 0 2 61 196 6877 CC 1 1 0 + 13 60 457 0 0 28.13028 317 60 11658 657 ENST00000409526.1 0.039394 1 AC079612.1 0 __UNKNOWN__ __UNKNOWN__ 2 240500170 240500170 __UNKNOWN__ Silent SNP G G A rs35846411 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:240500170G>A ENST00000358775.1 + 1 176 c.51G>A c.(49-51)tcG>tcA p.S17S NA NA central_nervous_system(1)|pancreas(1)|stomach(2) 4 acaccctgtcgtctgcaagct 0.552 NA G||| 625 0.1248 0.1127 0.2075 5008 , , NA 18262 0.0685 NA 0.1561 False NA ,,, NA NA NA 2504 0.1084 NA NA NA NA 0 G 176,1208 17,142,533 62 66 65 -1.1 0 2 dbSNP_126 65 493,2689 34,425,1132 no intergenic 51,567,1665 AA,AG,GG 15.4934,12.7168,14.6518 240500170 669,3897 692 1591 2283 SO:0001819 synonymous_variant NA NA NA NA ENST00000358775.1:c.51G>A chr2.hg19:g.240500170G>A NA hg19 0.02 8.328259 GTCxTCT COVERED NOVEL AC079612.1-001 PUTATIVE basic|appris_principal protein_coding NA protein_coding OTTHUMT00000257175.2 1 7.187462 KEEP 0 0 0 24 768 GG 0.999909 0.999909 0 + 11 60 365 0 0 23.119319 197 60 6503 261 ENST00000358775.1 0.052885 1 AC079612.1 0 __UNKNOWN__ __UNKNOWN__ 2 240500294 240500294 __UNKNOWN__ Missense_Mutation SNP A A C rs11683242 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:240500294A>C ENST00000358775.1 + 1 300 c.175A>C c.(175-177)Agc>Cgc p.S59R NA NA central_nervous_system(1)|pancreas(1)|stomach(2) 4 tcagtgttccagctccagcag 0.597 NA A||| 625 0.1248 0.1127 0.2075 5008 , , NA 20007 0.0685 NA 0.1561 False NA ,,, NA NA NA 2504 0.1084 NA NA NA NA 0 A 176,1208 17,142,533 58 59 59 0.4 0 2 dbSNP_120 59 493,2689 34,425,1132 no intergenic 51,567,1665 CC,CA,AA 15.4934,12.7168,14.6518 240500294 669,3897 692 1591 2283 SO:0001583 missense NA NA NA NA ENST00000358775.1:c.175A>C chr2.hg19:g.240500294A>C ENSP00000351625:p.Ser59Arg NA hg19 0.02 14.470589 TCCxGCT COVERED 271 0.12408424908424909 57 0.11585365853658537 57 0.1574585635359116 35 0.06118881118881119 122 0.16094986807387862 A 6.857 0.527387 0.13066 0.127168 0.154934 ENSG00000196758 ENST00000358775 . . . 0.422 0.422 0.16457 . . . . . T 0.00440 0.0014 . . . 0.80722 P 0.0 D 0.58970 0.984 P 0.61070 0.883 T 0.30592 -0.9973 5 0.87932 D 0 . . . . rs11683242;rs11683242 59 Q6ZRZ1 . R 59 . ENSP00000351625:S59R S + 1 0 AC079612.1 240165231 0.025000 0.19082 0.021000 0.16686 0.021000 0.10359 0.505000 0.22642 0.402000 0.25451 0.392000 0.25879 AGC NOVEL AC079612.1-001 PUTATIVE basic|appris_principal protein_coding NA protein_coding OTTHUMT00000257175.2 3 18.958363 KEEP 0 0 0 63 2007 AA 1 1 0 + 17 60 562 0 0 33.962071 376 60 13929 555 ENST00000358775.1 0.043257 1 AC110619.2 0 __UNKNOWN__ __UNKNOWN__ 2 241390027 241390027 __UNKNOWN__ Splice_Site SNP C C G rs3749127 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:241390027C>G ENST00000404327.3 - 2 430 c.e2+1 AC110619.2_ENST00000404891.1_3'UTR|GPC1_ENST00000264039.2_Intron NA NA NA GGAGCCCTCACCATGTGTGAC 0.622 NA C||| 119 0.023762 0.0023 0.1239 5008 , , NA 16856 0.0298 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001630 splice_region_variant NA NA NA NA ENST00000404327.3:c.379+1G>C chr2.hg19:g.241390027C>G NA hg19 0.02 18.515652 TCAxCAT COVERED 53 0.024267399267399268 3 0.006097560975609756 36 0.09944751381215469 14 0.024475524475524476 0 0.0 C 5.128 0.209266 0.09757 . . ENSG00000218416 ENST00000404327 . . . 2.49 0.109 0.14578 . . . . . . . . . . . 0.09310 N 1 . . . . . . . . . . . . . . 5.0209 0.14361 0.0:0.5727:0.0:0.4273 rs3749127 . . . . -1 . . . - . . AC110619.2 241038700 0.000000 0.05858 0.000000 0.03702 0.070000 0.16714 -0.727000 0.04931 -0.163000 0.10946 0.313000 0.20887 . NOVEL AC110619.2-001 PUTATIVE basic|appris_candidate_longest|exp_conf protein_coding NA protein_coding OTTHUMT00000326007.1 3 33.061057 KEEP 0 0 0 110 3854 CC 1 1 0 Intron - 15 60 562 0 0 35.132051 414 60 15213 658 ENST00000404327.3 0.034965 1 GPC1 2817 __UNKNOWN__ __UNKNOWN__ 2 241406649 241406649 __UNKNOWN__ 3'UTR SNP A A G rs3792215 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:241406649A>G ENST00000264039.2 + 0 2867 NM_002081.2 NP_002072.2 P35052 GPC1_HUMAN glypican 1 NA NA axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan catabolic process (GO:0030200)|myelin assembly (GO:0032288)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|phototransduction, visible light (GO:0007603)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|retinoid metabolic process (GO:0001523)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281) anchored component of membrane (GO:0031225)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578) copper ion binding (GO:0005507)|fibroblast growth factor binding (GO:0017134)|laminin binding (GO:0043236) breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1) 9 all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949) AGTGACCCTCAGCTGTCACCT 0.652 NA G||| 3300 0.658946 0.9304 0.621 5008 , , NA 19350 0.3363 NA 0.6988 False NA ,,, NA NA NA 2504 0.6104 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK095397 CCDS2534.1 2q35-q37 2008-02-05 ENSG00000063660 ENSG00000063660 2817 Proteoglycans / Cell Surface : Glypicans 4449 protein-coding gene gene with protein product glypican proteoglycan 1 600395 NA 7774946 Standard NM_002081 NM_002081 NA Approved glypican uc002vyw.4 P35052 OTTHUMG00000133349 ENST00000264039.2:c.*942A>G chr2.hg19:g.241406649A>G NA B3KTD1|Q53QM4 hg19 CCDS2534.1 0.02 3.558369 CTCxGCT COVERED NOVEL GPC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257179.3 1 6.318185 KEEP 0 0 0 21 643 AA 0.999869 0.999869 0 + 6 60 199 0 0 12.035471 133 60 4916 190 ENST00000264039.2 0.043165 1 ANKMY1 51281 __UNKNOWN__ __UNKNOWN__ 2 241451351 241451351 __UNKNOWN__ Missense_Mutation SNP G G A rs35044862 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:241451351G>A ENST00000403283.1 - 9 1919 c.1760C>T c.(1759-1761)aCg>aTg p.T587M ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000406958.1_Missense_Mutation_p.T410M|ANKMY1_ENST00000373318.2_Missense_Mutation_p.T508M|ANKMY1_ENST00000401804.1_Missense_Mutation_p.T738M|ANKMY1_ENST00000373320.4_Missense_Mutation_p.T419M|ANKMY1_ENST00000391987.1_Missense_Mutation_p.T649M|ANKMY1_ENST00000272972.3_Missense_Mutation_p.T649M Q9P2S6 ANKY1_HUMAN ankyrin repeat and MYND domain containing 1 649 NA metal ion binding (GO:0046872) central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 30 all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476) GGCTGTGTCCGTGCTGTAGTA 0.672 NA G||| 889 0.177516 0.2821 0.2392 5008 , , NA 18735 0.1855 NA 0.1034 False NA ,,, NA NA NA 2504 0.0603 NA NA NA NA 0 G MET/THR, 1061,3345 386.5+/-326.1 133,795,1275 61 61 61 1946, -1.8 0 2 dbSNP_126 61 855,7745 193.8+/-239.4 42,771,3487 yes missense,intron ANKMY1 NM_016552.2,NM_017844.2 81, 175,1566,4762 AA,AG,GG 9.9419,24.0808,14.7317 benign, 649/942, 241451351 1916,11090 2203 4300 6503 SO:0001583 missense AB034636 CCDS2535.1, CCDS2536.1, CCDS63184.1, CCDS63185.1, CCDS74681.1 2q37.3 2013-01-10 ENSG00000144504 ENSG00000144504 51281 Zinc fingers, MYND-type, Ankyrin repeat domain containing 20987 protein-coding gene gene with protein product NA Standard NM_017844 XM_005247020 NA Approved FLJ20499, ZMYND13 uc002vyz.1 Q9P2S6 OTTHUMG00000133355 ENST00000403283.1:c.1760C>T chr2.hg19:g.241451351G>A ENSP00000383968:p.Thr587Met NA B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10 hg19 0.02 4.73993 TCCxTGC COVERED 398 0.18223443223443223 150 0.3048780487804878 83 0.2292817679558011 98 0.17132867132867133 67 0.08839050131926121 G 5.362 0.252081 0.10185 0.240808 0.099419 ENSG00000144504 ENST00000373318;ENST00000406958;ENST00000272972;ENST00000391987;ENST00000373320;ENST00000403283;ENST00000401804 T;T;T;T;T;T;T 0.71579 -0.15;3.55;-0.58;-0.58;4.31;-0.15;0.44 3.43 -1.77 0.07982 Ankyrin repeat-containing domain (3); 3.829500 0.01322 N 0.010978 T 0.00012 0.0000 N 0.24115 0.695 0.80722 P 0.0 B;B;B;P;B 0.44195 0.023;0.155;0.004;0.828;0.023 B;B;B;B;B 0.39738 0.01;0.014;0.005;0.308;0.01 T 0.02288 -1.1182 9 0.48119 T 0.1 -17.1302 2.1176 0.03718 0.1713:0.1121:0.4833:0.2333 rs35044862 649;419;508;410;649 Q4ZFV3;Q9P2S6-4;Q6GPI0;B5MBY4;Q9P2S6 .;.;.;.;ANKY1_HUMAN M 508;410;649;649;419;587;738 ENSP00000362415:T508M;ENSP00000384555:T410M;ENSP00000272972:T649M;ENSP00000375847:T649M;ENSP00000362417:T419M;ENSP00000383968:T587M;ENSP00000385887:T738M ENSP00000272972:T649M T - 2 0 ANKMY1 241100024 0.000000 0.05858 0.000000 0.03702 0.004000 0.04260 -3.061000 0.00623 -0.925000 0.03775 -1.628000 0.00784 ACG NOVEL ANKMY1-005 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000325900.2 1 8.726646 KEEP 0 0 0 29 963 GG 0.999997 0.999995 0 - 6 60 213 0 0 13.869738 112 60 3697 185 ENST00000403283.1 0.050847 0.999998 RNPEPL1 57140 __UNKNOWN__ __UNKNOWN__ 2 241514413 241514413 __UNKNOWN__ Intron SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:241514413C>T ENST00000270357.4 + 7 1188 RNPEPL1_ENST00000464550.1_Intron NM_018226.4 NP_060696.4 Q9HAU8 RNPL1_HUMAN arginyl aminopeptidase (aminopeptidase B)-like 1 NA NA leukotriene biosynthetic process (GO:0019370) aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270) central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 13 all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238) Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322) CTGGTGGTTTCGGACGCCAGC 0.587 NA NA NA NA NA NA NA NA NA NA NA 0 100 91 94 NA NA 2 NA 241514413 2203 4300 6503 SO:0001627 intron_variant 2q37.3 2012-03-06 ENSG00000142327 ENSG00000142327 57140 10079 protein-coding gene gene with protein product 605287 NA 19508204 Standard NM_018226 NM_018226 NA Approved uc002vzi.4 Q9HAU8 OTTHUMG00000133357 ENST00000270357.4:c.596-34C>T chr2.hg19:g.241514413C>T NA Q5XKC3|Q6NX56|Q96AC9|Q9H033|Q9NVD0 hg19 0.02 17.162048 TTTxGGA COVERED NOVEL RNPEPL1-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000257190.4 1 18.358718 KEEP 0 0 0 61 2086 CC 1 1 0 + 12 60 437 0 0 25.996534 391 60 14241 577 ENST00000270357.4 0.029777 1 CAPN10 11132 __UNKNOWN__ __UNKNOWN__ 2 241536053 241536053 __UNKNOWN__ Intron SNP C C T rs2953171 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:241536053C>T ENST00000391984.2 + 9 1677 CAPN10_ENST00000404753.3_Intron|CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000354082.4_Intron|CAPN10_ENST00000270364.7_Intron NM_023083.3 NP_075571 Q9HC96 CAN10_HUMAN calpain 10 NA NA actin cytoskeleton reorganization (GO:0031532)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to insulin stimulus (GO:0032869)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin secretion (GO:0032024)|positive regulation of intracellular transport (GO:0032388)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteolysis (GO:0006508)|type B pancreatic cell apoptotic process (GO:0097050) cell (GO:0005623)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886) calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cytoskeletal protein binding (GO:0008092)|SNARE binding (GO:0000149) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1) 27 all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032) CTGAGGCCACCGGGAACCTGC 0.657 NA C||| 1004 0.200479 0.0946 0.2752 5008 , , NA 15958 0.3016 NA 0.167 False NA ,,, NA NA NA 2504 0.2209 NA NA NA NA 0 C , 443,3561 15,413,1574 17 19 18 , 1.6 0 2 dbSNP_101 18 1324,6974 106,1112,2931 no intron,intron CAPN10 NM_023083.3,NM_023085.3 , 121,1525,4505 TT,TC,CC 15.9557,11.0639,14.3635 , , 241536053 1767,10535 2002 4149 6151 SO:0001627 intron_variant AF089088 CCDS33420.1, CCDS42838.1 2q37.3 2008-05-22 ENSG00000142330 ENSG00000142330 11132 1477 protein-coding gene gene with protein product 605286 NA 11017071, 11018080 Standard NM_023083 NM_023083 NA Approved uc002vzk.2 Q9HC96 OTTHUMG00000133358 ENST00000391984.2:c.1482-45C>T chr2.hg19:g.241536053C>T NA A8MVS7|Q4ZFV1|Q8NCD4|Q96IG4|Q96JI2|Q9HC89|Q9HC90|Q9HC91|Q9HC92|Q9HC93|Q9HC94|Q9HC95 hg19 CCDS42838.1 0.02 1.968414 CACxGGG COVERED NOVEL CAPN10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257191.3 0 2.708188 KEEP 0 0 0 9 292 CC 0.99254 0.991952 0 + 4 60 149 0 0 9.869501 78 60 2705 96 ENST00000391984.2 0.04878 0.999407 AQP12B 653437 __UNKNOWN__ __UNKNOWN__ 2 241622187 241622187 __UNKNOWN__ Missense_Mutation SNP C C T rs4081909 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:241622187C>T ENST00000407834.3 - 1 130 c.68G>A c.(67-69)cGg>cAg p.R23Q NM_001102467.1 NP_001095937.1 A6NM10 AQ12B_HUMAN aquaporin 12B 23 NA integral component of membrane (GO:0016021) transporter activity (GO:0005215) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1) 13 all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757) CTTGGAGGCCCGCCTGGCTGC 0.672 NA N||| 1096 0.21885 0.2436 0.3501 5008 , , NA 16445 0.2649 NA 0.1064 False NA ,,, NA NA NA 2504 0.1605 NA NA NA NA 0 GLN/ARG 902,3468 188,526,1471 38 45 43 68 1.3 0.2 2 dbSNP_108 43 904,7658 152,600,3529 no missense AQP12B NM_001102467.1 43 340,1126,5000 TT,TC,CC 10.5583,20.6407,13.9654 probably-damaging 23/308 241622187 1806,11126 2185 4281 6466 SO:0001583 missense BC041460 CCDS46560.1 2q37.3 2007-12-14 2005-05-26 2005-05-26 ENSG00000185176 ENSG00000185176 653437 Ion channels / Aquaporins 6096 protein-coding gene gene with protein product insulin synthesis associated 3 INSSA3 NA Standard NM_001102467 NA Approved uc010fzj.3 A6NM10 OTTHUMG00000152263 ENST00000407834.3:c.68G>A chr2.hg19:g.241622187C>T ENSP00000384894:p.Arg23Gln NA A4QPB9 hg19 CCDS46560.1 0.02 4.494267 GCCxGCC COVERED 405 0.18543956043956045 99 0.20121951219512196 93 0.2569060773480663 135 0.23601398601398602 78 0.10290237467018469 . 13.64 2.296236 0.40594 0.206407 0.105583 ENSG00000185176 ENST00000407834 T 0.11169 2.8 3.19 1.29 0.21616 . 0.556195 0.18450 N 0.140848 T 0.00012 0.0000 M 0.65498 2.005 0.50632 P 1.1899999999998023E-4 D 0.69078 0.997 P 0.54924 0.764 T 0.31558 -0.9939 8 . . . 0.0022 6.4343 0.21815 0.0:0.7311:0.0:0.2689 rs4081909 23 A6NM10-2 . Q 23 ENSP00000384894:R23Q . R - 2 0 AQP12B 241270860 0.000000 0.05858 0.173000 0.22940 0.190000 0.23558 -0.169000 0.09911 0.611000 0.30052 0.479000 0.44913 CGG NOVEL AQP12B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000325625.1 0 6.621392 KEEP 12 0 0 22 766 CC 0.999879 0.999879 0 - 17 60 631 0 0 48.458227 128 60 4517 228 ENST00000407834.3 0.117241 1 AC011298.2 0 __UNKNOWN__ __UNKNOWN__ 2 241626609 241626609 __UNKNOWN__ lincRNA SNP T T C rs11693971 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:241626609T>C ENST00000407635.2 + 0 859 NA NA NA tcccaggccttgcgctctggg 0.612 NA N||| 999 0.199481 0.2716 0.3084 5008 , , NA 16712 0.2123 NA 0.0944 False NA ,,, NA NA NA 2504 0.1196 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000407635.2: chr2.hg19:g.241626609T>C NA hg19 0.02 6.748682 CCTxGCG COVERED NOVEL AC011298.2-001 KNOWN basic|exp_conf lincRNA NA lincRNA OTTHUMT00000325630.2 2 8.121359 KEEP 0 0 0 27 786 TT 0.999988 0.999988 0 + 12 60 439 0 0 30.396354 171 60 6083 240 ENST00000407635.2 0.065574 1 AC011298.2 0 __UNKNOWN__ __UNKNOWN__ 2 241627040 241627040 __UNKNOWN__ lincRNA SNP G G T rs11686024 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:241627040G>T ENST00000407635.2 + 0 1290 NA NA NA TGGGTGGGGGGTGCACACGGG 0.692 NA N||| 936 0.186901 0.2269 0.304 5008 , , NA 12020 0.2113 NA 0.0944 False NA ,,, NA NA NA 2504 0.1196 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000407635.2: chr2.hg19:g.241627040G>T NA hg19 0.02 6.005516 GGGxTGC COVERED NOVEL AC011298.2-001 KNOWN basic|exp_conf lincRNA NA lincRNA OTTHUMT00000325630.2 1 5.718775 KEEP 0 0 0 19 683 GG 0.99986 0.99986 0 + 8 60 283 0 0 18.442267 147 60 5322 208 ENST00000407635.2 0.051613 1 KIF1A 547 __UNKNOWN__ __UNKNOWN__ 2 241655594 241655594 __UNKNOWN__ 3'UTR SNP G G A rs3732342 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:241655594G>A ENST00000320389.7 - 0 6418 KIF1A_ENST00000498729.2_3'UTR NM_004321.6 NP_004312.2 Q12756 KIF1A_HUMAN kinesin family member 1A NA NA anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192) cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574) NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) CTCCATTGCCGACCGACCAGG 0.537 NA G||| 530 0.105831 0.0673 0.281 5008 , , NA 18199 0.2192 NA 0.0169 False NA ,,, NA NA NA 2504 0.0082 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF004425 CCDS46561.1, CCDS58757.1 2q37.2 2014-09-17 2004-01-09 2004-01-14 ENSG00000130294 ENSG00000130294 547 Kinesins, Pleckstrin homology (PH) domain containing 888 protein-coding gene gene with protein product 601255 axonal transport of synaptic vesicles, chromosome 2 open reading frame 20, spastic paraplegia 30 (autosomal recessive) ATSV, C2orf20, SPG30 NA 7539720, 10323250, 22258533 Standard NM_138483 NM_001244008 NA Approved UNC104 uc010fzk.3 Q12756 OTTHUMG00000151940 ENST00000320389.7:c.*1187C>T chr2.hg19:g.241655594G>A NA B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57 hg19 CCDS46561.1 0.02 14.487423 GCCxACC COVERED NOVEL KIF1A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000324536.3 1 10.833919 KEEP 0 0 0 36 1222 GG 0.999999 0.999999 0 - 17 60 577 0 0 36.380942 340 60 11894 509 ENST00000320389.7 0.047619 1 KIF1A 547 __UNKNOWN__ __UNKNOWN__ 2 241664801 241664801 __UNKNOWN__ Silent SNP C C T rs2241683 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:241664801C>T ENST00000320389.7 - 38 3998 c.3840G>A c.(3838-3840)ccG>ccA p.P1280P KIF1A_ENST00000498729.2_Silent_p.P1381P NM_004321.6 NP_004312.2 Q12756 KIF1A_HUMAN kinesin family member 1A 1280 NA anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192) cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574) NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) TGACAACAGCCGGCTGGGTGC 0.617 NA C||| 436 0.0870607 0.0121 0.1167 5008 , , NA 19111 0.3313 NA 0.001 False NA ,,, NA NA NA 2504 0.0041 NA NA NA NA 0 C 59,4193 0,59,2067 54 66 62 3840 -5.4 0.8 2 dbSNP_98 62 11,8497 0,11,4243 no coding-synonymous KIF1A NM_004321.5 0,70,6310 TT,TC,CC 0.1293,1.3876,0.5486 1280/1691 241664801 70,12690 2126 4254 6380 SO:0001819 synonymous_variant AF004425 CCDS46561.1, CCDS58757.1 2q37.2 2014-09-17 2004-01-09 2004-01-14 ENSG00000130294 ENSG00000130294 547 Kinesins, Pleckstrin homology (PH) domain containing 888 protein-coding gene gene with protein product 601255 axonal transport of synaptic vesicles, chromosome 2 open reading frame 20, spastic paraplegia 30 (autosomal recessive) ATSV, C2orf20, SPG30 NA 7539720, 10323250, 22258533 Standard NM_138483 NM_001244008 NA Approved UNC104 uc010fzk.3 Q12756 OTTHUMG00000151940 ENST00000320389.7:c.3840G>A chr2.hg19:g.241664801C>T NA B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57 hg19 CCDS46561.1 0.02 7.005041 AGCxGGC COVERED 217 0.09935897435897435 7 0.014227642276422764 17 0.04696132596685083 192 0.3356643356643357 1 0.0013192612137203166 C 1.931 -0.446029 0.04604 0.013876 0.001293 ENSG00000130294 ENST00000431776 . . . 3.7 -5.36 0.02689 . . . . . T 0.00012 0.0000 . . . 0.09310 P 0.9999999999904985 . . . . . . T 0.43621 -0.9380 3 . . . . 2.3002 0.04160 0.2466:0.4017:0.0914:0.2603 rs2241683;rs59151394;rs2241683 . . . Q 213 . . R - 2 0 KIF1A 241313474 0.000000 0.05858 0.833000 0.33012 0.273000 0.26683 -4.855000 0.00177 -0.635000 0.05531 -1.076000 0.02234 CGG NOVEL KIF1A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000324536.3 0 8.125784 KEEP 0 0 0 27 915 CC 0.999988 0.999988 0 - 13 60 483 0 0 33.951376 176 60 6096 269 ENST00000320389.7 0.068783 1 KIF1A 547 __UNKNOWN__ __UNKNOWN__ 2 241666198 241666198 __UNKNOWN__ Intron SNP G G C rs75944662 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:241666198G>C ENST00000320389.7 - 37 3978 KIF1A_ENST00000498729.2_Intron NM_004321.6 NP_004312.2 Q12756 KIF1A_HUMAN kinesin family member 1A NA NA anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192) cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574) NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) TCAAGCTTCAGGGGCTGAGTG 0.488 NA G||| 15 0.00299521 0.0 0.0 5008 , , NA 18003 0.0149 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 46 46 46 NA NA 2 NA 241666198 1948 4132 6080 SO:0001627 intron_variant AF004425 CCDS46561.1, CCDS58757.1 2q37.2 2014-09-17 2004-01-09 2004-01-14 ENSG00000130294 ENSG00000130294 547 Kinesins, Pleckstrin homology (PH) domain containing 888 protein-coding gene gene with protein product 601255 axonal transport of synaptic vesicles, chromosome 2 open reading frame 20, spastic paraplegia 30 (autosomal recessive) ATSV, C2orf20, SPG30 NA 7539720, 10323250, 22258533 Standard NM_138483 NM_001244008 NA Approved UNC104 uc010fzk.3 Q12756 OTTHUMG00000151940 ENST00000320389.7:c.3819+44C>G chr2.hg19:g.241666198G>C NA B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57 hg19 CCDS46561.1 0.02 4.690462 TCAxGGG COVERED NOVEL KIF1A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000324536.3 1 4.514921 KEEP 0 0 0 15 549 GG 0.99649 0.99649 0 - 6 60 216 0 0 13.825587 129 60 4894 187 ENST00000320389.7 0.044444 1 KIF1A 547 __UNKNOWN__ __UNKNOWN__ 2 241713646 241713646 __UNKNOWN__ Silent SNP A A G rs1063353 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:241713646A>G ENST00000320389.7 - 12 1149 c.991T>C c.(991-993)Ttg>Ctg p.L331L KIF1A_ENST00000498729.2_Silent_p.L331L NM_004321.6 NP_004312.2 Q12756 KIF1A_HUMAN kinesin family member 1A 331 Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}. NA anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192) cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574) NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) GCAGGACTCAAGGCTGCCACC 0.592 NA G||| 2572 0.513578 0.7428 0.3631 5008 , , NA 13128 0.622 NA 0.3618 False NA ,,, NA NA NA 2504 0.3548 NA NA NA NA 0 G 2789,1501 909,971,265 72 77 75 991 4.3 1 2 dbSNP_86 75 2940,5542 516,1908,1817 no coding-synonymous KIF1A NM_004321.5 1425,2879,2082 GG,GA,AA 34.6616,34.9883,44.8559 331/1691 241713646 5729,7043 2145 4241 6386 SO:0001819 synonymous_variant AF004425 CCDS46561.1, CCDS58757.1 2q37.2 2014-09-17 2004-01-09 2004-01-14 ENSG00000130294 ENSG00000130294 547 Kinesins, Pleckstrin homology (PH) domain containing 888 protein-coding gene gene with protein product 601255 axonal transport of synaptic vesicles, chromosome 2 open reading frame 20, spastic paraplegia 30 (autosomal recessive) ATSV, C2orf20, SPG30 NA 7539720, 10323250, 22258533 Standard NM_138483 NM_001244008 NA Approved UNC104 uc010fzk.3 Q12756 OTTHUMG00000151940 ENST00000320389.7:c.991T>C chr2.hg19:g.241713646A>G NA B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57 hg19 CCDS46561.1 0.02 9.559302 TCAxGGC COVERED 1092 0.5 354 0.7195121951219512 115 0.31767955801104975 349 0.6101398601398601 274 0.36147757255936674 G 5.440 0.266237 0.10294 0.650117 0.346616 ENSG00000130294 ENST00000428768 . . . 4.33 4.33 0.51752 . 0.000000 0.64402 U 0.000002 T 0.00012 0.0000 . . . 0.09310 P 1.0 . . . . . . T 0.40403 -0.9565 4 . . . . 12.0657 0.53586 0.0862:0.0:0.9138:0.0 rs1063353;rs3204419 . . . P 138 . . L - 2 0 KIF1A 241362319 1.000000 0.71417 1.000000 0.80357 0.483000 0.33249 6.463000 0.73530 0.820000 0.34516 -0.374000 0.07098 CTT NOVEL KIF1A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000324536.3 1 10.062187 KEEP 0 1 39 47 1471 AA 1 1 0 - 8 60 306 0 0 19.388054 219 60 8127 360 ENST00000320389.7 0.035242 1 AGXT 189 __UNKNOWN__ __UNKNOWN__ 2 241812461 241812461 __UNKNOWN__ Missense_Mutation SNP G G A rs34664134 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:241812461G>A ENST00000307503.3 + 5 977 c.590G>A c.(589-591)cGg>cAg p.R197Q NM_000030.2 NP_000021.1 P21549 SPYA_HUMAN alanine-glyoxylate aminotransferase 197 NA cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process (GO:0042853)|L-cysteine catabolic process (GO:0019448)|oxalic acid secretion (GO:0046724)|pyruvate biosynthetic process (GO:0042866)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281) mitochondrial matrix (GO:0005759)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777) alanine-glyoxylate transaminase activity (GO:0008453)|amino acid binding (GO:0016597)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|receptor binding (GO:0005102)|serine-pyruvate transaminase activity (GO:0004760)|transaminase activity (GO:0008483) central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1) 18 all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15) Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133) TACATGGACCGGCAAGGTAAG 0.657 NA A||| 130 0.0259585 0.0 0.0 5008 , , NA 17204 0.0843 NA 0.001 False NA ,,, NA NA NA 2504 0.045 NA NA NA NA 0 A GLN/ARG 3,4403 825.4+/-416.5 0,3,2200 71 69 70 http://www.ncbi.nlm.nih.gov/sites/varvu?gene 590 4.1 1 2 dbSNP_126 70 6,8594 818.9+/-406.8 0,6,4294 yes missense AGXT NM_000030.2 43 0,9,6494 AA,AG,GG 0.0698,0.0681,0.0692 benign 197/393 241812461 9,12997 2203 4300 6503 SO:0001583 missense D13368 CCDS2543.1 2q37.3 2008-02-05 2007-04-13 ENSG00000172482 ENSG00000172482 189 2.6.1.44, 2.6.1.51 341 protein-coding gene gene with protein product oxalosis I, primary hyperoxaluria type 1, L-alanine: glyoxylate aminotransferase 1, serine:pyruvate aminotransferase, glycolicaciduria 604285 SPAT NA 2039493, 2045108 Standard NM_000030 NM_000030 NA Approved AGXT1, PH1, AGT, SPT, AGT1 uc002waa.4 P21549 OTTHUMG00000133354 ENST00000307503.3:c.590G>A chr2.hg19:g.241812461G>A ENSP00000302620:p.Arg197Gln NA Q53QU6 hg19 CCDS2543.1 0.02 7.130662 ACCxGCA COVERED 51 0.023351648351648352 0 0.0 0 0.0 50 0.08741258741258741 1 0.0013192612137203166 A 9.321 1.058142 0.19987 6.81E-4 6.98E-4 ENSG00000172482 ENST00000307503 D 0.90788 -2.73 4.14 4.14 0.48551 Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1); 0.536026 0.20684 N 0.087595 T 0.09379 0.0231 N 0.01009 -1.055 0.09310 N 0.999993 B;B 0.06786 0.001;0.0 B;B 0.04013 0.001;0.0 T 0.35051 -0.9804 10 0.23302 T 0.38 -17.0156 9.2238 0.37393 0.9108:0.0:0.0892:0.0 rs34664134 197;197 B7Z548;P21549 .;SPYA_HUMAN Q 197 ENSP00000302620:R197Q ENSP00000302620:R197Q R + 2 0 AGXT 241461134 1.000000 0.71417 1.000000 0.80357 0.694000 0.40290 3.540000 0.53611 0.471000 0.27319 -0.351000 0.07748 CGG NOVEL AGXT-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257186.1 1 9.927719 KEEP 0 0 0 33 1079 GG 0.999998 0.999998 0 + 8 60 316 0 0 21.090573 178 60 6412 264 ENST00000307503.3 0.043011 1 AGXT 189 __UNKNOWN__ __UNKNOWN__ 2 241813554 241813554 __UNKNOWN__ Intron SNP G G A rs117619103 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:241813554G>A ENST00000307503.3 + 6 1067 NM_000030.2 NP_000021.1 P21549 SPYA_HUMAN alanine-glyoxylate aminotransferase NA NA cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process (GO:0042853)|L-cysteine catabolic process (GO:0019448)|oxalic acid secretion (GO:0046724)|pyruvate biosynthetic process (GO:0042866)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281) mitochondrial matrix (GO:0005759)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777) alanine-glyoxylate transaminase activity (GO:0008453)|amino acid binding (GO:0016597)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|receptor binding (GO:0005102)|serine-pyruvate transaminase activity (GO:0004760)|transaminase activity (GO:0008483) central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1) 18 all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15) Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133) AGGCGGGAGGGGCGGGAGCCA 0.672 NA G||| 131 0.0261581 0.0 0.0 5008 , , NA 15941 0.0843 NA 0.001 False NA ,,, NA NA NA 2504 0.046 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D13368 CCDS2543.1 2q37.3 2008-02-05 2007-04-13 ENSG00000172482 ENSG00000172482 189 2.6.1.44, 2.6.1.51 341 protein-coding gene gene with protein product oxalosis I, primary hyperoxaluria type 1, L-alanine: glyoxylate aminotransferase 1, serine:pyruvate aminotransferase, glycolicaciduria 604285 SPAT NA 2039493, 2045108 Standard NM_000030 NM_000030 NA Approved AGXT1, PH1, AGT, SPT, AGT1 uc002waa.4 P21549 OTTHUMG00000133354 ENST00000307503.3:c.680+75G>A chr2.hg19:g.241813554G>A NA Q53QU6 hg19 CCDS2543.1 0.02 3.822373 AGGxGCG COVERED NOVEL AGXT-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257186.1 0 6.320366 KEEP 0 0 0 21 727 GG 0.999869 0.999869 0 + 6 60 221 0 0 14.15465 137 60 4883 173 ENST00000307503.3 0.041958 1 C2orf54 79919 __UNKNOWN__ __UNKNOWN__ 2 241826517 241826517 __UNKNOWN__ Silent SNP C C T rs12616061 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:241826517C>T ENST00000388934.4 - 5 1472 c.1314G>A c.(1312-1314)aaG>aaA p.K438K C2orf54_ENST00000402775.2_Silent_p.K270K|C2orf54_ENST00000307486.8_Silent_p.K289K NM_001085437.1 NP_001078906 Q08AI8 CB054_HUMAN chromosome 2 open reading frame 54 438 NA haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1) 6 all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15) GAGTCCTGGTCTTCTGGAAGA 0.587 NA C||| 635 0.126797 0.1377 0.1167 5008 , , NA 20194 0.3105 NA 0.003 False NA ,,, NA NA NA 2504 0.0573 NA NA NA NA 0 C , 434,3532 24,386,1573 86 91 90 1314,810 4.5 1 2 dbSNP_120 90 27,8301 0,27,4137 no coding-synonymous,coding-synonymous C2orf54 NM_001085437.1,NM_024861.2 , 24,413,5710 TT,TC,CC 0.3242,10.943,3.7498 , 438/448,270/280 241826517 461,11833 1983 4164 6147 SO:0001819 synonymous_variant AK026324, AK056601 CCDS42839.1, CCDS42840.1, CCDS63187.1 2q37.3 2011-02-23 ENSG00000172478 ENSG00000172478 79919 26216 protein-coding gene gene with protein product NA Standard NM_024861, NM_001085437 NM_001282921 NA Approved FLJ22671 uc002wae.4 Q08AI8 OTTHUMG00000151906 ENST00000388934.4:c.1314G>A chr2.hg19:g.241826517C>T NA B3KPP9|H7BXM3|Q08AI9|Q53QU5|Q9H622 hg19 CCDS42839.1 0.02 8.894504 GGTxTTC COVERED NOVEL C2orf54-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000324353.1 1 9.92556 KEEP 0 0 0 33 1126 CC 0.999998 0.999998 0 - 9 60 328 0 0 20.728576 214 60 8153 330 ENST00000388934.4 0.040359 1 PASK 23178 __UNKNOWN__ __UNKNOWN__ 2 242075362 242075362 __UNKNOWN__ Silent SNP G G A rs2066958 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:242075362G>A ENST00000358649.4 - 8 1293 c.1230C>T c.(1228-1230)gaC>gaT p.D410D PASK_ENST00000405260.1_Silent_p.D410D|PASK_ENST00000403638.3_Silent_p.D410D|PASK_ENST00000234040.4_Silent_p.D410D|PASK_ENST00000544142.1_Silent_p.D224D|PASK_ENST00000539818.1_Silent_p.D194D Q96RG2 PASK_HUMAN PAS domain containing serine/threonine kinase 410 NA negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634) ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871) NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2) 53 all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968) CATTGCCGACGTCCAGGCAGC 0.562 NA G||| 405 0.0808706 0.003 0.1383 5008 , , NA 17722 0.2282 NA 0.005 False NA ,,, NA NA NA 2504 0.0716 NA NA NA NA 0 G 14,4392 21.2+/-45.6 0,14,2189 133 131 131 1230 -7.3 0 2 dbSNP_96 131 30,8570 21.0+/-64.5 0,30,4270 no coding-synonymous PASK NM_015148.2 0,44,6459 AA,AG,GG 0.3488,0.3177,0.3383 410/1324 242075362 44,12962 2203 4300 6503 SO:0001819 synonymous_variant U79240 CCDS2545.1, CCDS58758.1, CCDS58759.1 2q37.3 2008-05-23 ENSG00000115687 ENSG00000115687 23178 17270 protein-coding gene gene with protein product 607505 NA 11688972, 11459942, 15148392 Standard NM_015148 NM_001252119 NA Approved PASKIN, KIAA0135, STK37 uc010fzl.2 Q96RG2 OTTHUMG00000133392 ENST00000358649.4:c.1230C>T chr2.hg19:g.242075362G>A NA G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7 hg19 CCDS58759.1 0.02 14.088388 GACxTCC COVERED NOVEL PASK-004 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000323754.1 1 17.455356 KEEP 0 0 0 58 1972 GG 1 1 0 - 16 60 612 0 0 41.43327 296 60 10378 467 ENST00000358649.4 0.051282 1 PASK 23178 __UNKNOWN__ __UNKNOWN__ 2 242082480 242082480 __UNKNOWN__ 5'UTR SNP A A C rs758068 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:242082480A>C ENST00000358649.4 - 0 31 PASK_ENST00000405260.1_5'UTR|PASK_ENST00000403638.3_5'UTR|PASK_ENST00000234040.4_5'UTR|PASK_ENST00000544142.1_5'UTR|PASK_ENST00000539818.1_Intron Q96RG2 PASK_HUMAN PAS domain containing serine/threonine kinase NA NA negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634) ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871) NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2) 53 all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968) CAAGCTTCCAACTCTAACAAC 0.468 NA C||| 1982 0.395767 0.3268 0.4625 5008 , , NA 20847 0.3313 NA 0.4493 False NA ,,, NA NA NA 2504 0.453 NA NA NA NA 0 C 1583,2823 651.3+/-399.2 286,1011,906 31 33 32 -0.2 0.1 2 dbSNP_86 32 3907,4693 597.8+/-393.8 849,2209,1242 no utr-5 PASK NM_015148.2 1135,3220,2148 CC,CA,AA 45.4302,35.9283,42.2113 242082480 5490,7516 2203 4300 6503 SO:0001623 5_prime_UTR_variant U79240 CCDS2545.1, CCDS58758.1, CCDS58759.1 2q37.3 2008-05-23 ENSG00000115687 ENSG00000115687 23178 17270 protein-coding gene gene with protein product 607505 NA 11688972, 11459942, 15148392 Standard NM_015148 NM_001252119 NA Approved PASKIN, KIAA0135, STK37 uc010fzl.2 Q96RG2 OTTHUMG00000133392 ENST00000358649.4:c.-33T>G chr2.hg19:g.242082480A>C NA G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7 hg19 CCDS58759.1 0.02 13.50893 CCAxCTC COVERED NOVEL PASK-004 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000323754.1 2 20.16095 KEEP 0 0 0 67 2114 AA 1 1 0 - 20 60 739 0 0 50.341711 323 60 11616 549 ENST00000358649.4 0.058309 1 PASK 23178 __UNKNOWN__ __UNKNOWN__ 2 242082559 242082559 __UNKNOWN__ Intron SNP T T C rs2066941 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:242082559T>C ENST00000358649.4 - 2 22 PASK_ENST00000405260.1_Intron|PASK_ENST00000403638.3_Intron|PASK_ENST00000234040.4_Intron|PASK_ENST00000539818.1_Intron Q96RG2 PASK_HUMAN PAS domain containing serine/threonine kinase NA NA negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634) ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871) NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2) 53 all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968) CCAACTAATTTATAATGCTGA 0.453 NA C||| 1998 0.398962 0.3381 0.4625 5008 , , NA 21515 0.3313 NA 0.4493 False NA ,,, NA NA NA 2504 0.454 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U79240 CCDS2545.1, CCDS58758.1, CCDS58759.1 2q37.3 2008-05-23 ENSG00000115687 ENSG00000115687 23178 17270 protein-coding gene gene with protein product 607505 NA 11688972, 11459942, 15148392 Standard NM_015148 NM_001252119 NA Approved PASKIN, KIAA0135, STK37 uc010fzl.2 Q96RG2 OTTHUMG00000133392 ENST00000358649.4:c.42-70A>G chr2.hg19:g.242082559T>C NA G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7 hg19 CCDS58759.1 0.02 7.330219 ATTxATA COVERED NOVEL PASK-004 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000323754.1 3 8.423014 KEEP 0 0 0 28 836 TT 0.999997 0.999997 0 - 11 60 421 0 0 30.211699 141 60 4791 184 ENST00000358649.4 0.072368 1 PPP1R7 5510 __UNKNOWN__ __UNKNOWN__ 2 242089476 242089476 __UNKNOWN__ 5'UTR SNP G G A rs34782167 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:242089476G>A ENST00000234038.6 + 0 40 PASK_ENST00000405260.1_De_novo_Start_OutOfFrame|PPP1R7_ENST00000407025.1_Intron|PPP1R7_ENST00000402734.1_Intron|PPP1R7_ENST00000272983.8_5'UTR NM_001282412.1|NM_001282413.1|NM_002712.1 NP_001269341.1|NP_001269342.1|NP_002703.1 Q15435 PP1R7_HUMAN protein phosphatase 1, regulatory subunit 7 NA NA positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790) chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) enzyme regulator activity (GO:0030234)|protein phosphatase type 1 regulator activity (GO:0008599) cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3) 23 all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096) AGGGATGCACGTAGGACTGGC 0.632 NA G||| 378 0.0754792 0.003 0.1398 5008 , , NA 15528 0.2014 NA 0.005 False NA ,,, NA NA NA 2504 0.0706 NA NA NA NSCLC(62;446 1299 5417 11238 27640) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF067136 CCDS2546.1, CCDS63190.1, CCDS63192.1, CCDS63193.1, CCDS63194.1 2q37.3 2012-04-17 2011-10-04 ENSG00000115685 ENSG00000115685 5510 Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits 9295 protein-coding gene gene with protein product 602877 protein phosphatase 1, regulatory (inhibitor) subunit 7 NA 7498485, 7670491, 10231361 Standard NM_002712 NM_001282413 NA Approved sds22 uc002wat.1 Q15435 OTTHUMG00000133390 ENST00000234038.6:c.-435G>A chr2.hg19:g.242089476G>A NA B4DFD4|B5MCY6|Q9UQE5|Q9UQE6|Q9Y6K4 hg19 CCDS2546.1 0.02 19.62749 CACxTAG COVERED NOVEL PPP1R7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257244.4 3 102.013528 KEEP 0 0 0 339 11736 GG 1 1 0 + 16 60 604 0 0 37.492918 470 60 16380 1116 ENST00000234038.6 0.032922 1 PPP1R7 5510 __UNKNOWN__ __UNKNOWN__ 2 242089723 242089723 __UNKNOWN__ 5'UTR SNP T T C rs2072655 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:242089723T>C ENST00000234038.6 + 0 287 PPP1R7_ENST00000407025.1_5'UTR|PPP1R7_ENST00000402734.1_Intron|PPP1R7_ENST00000272983.8_5'UTR NM_001282412.1|NM_001282413.1|NM_002712.1 NP_001269341.1|NP_001269342.1|NP_002703.1 Q15435 PP1R7_HUMAN protein phosphatase 1, regulatory subunit 7 NA NA positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790) chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) enzyme regulator activity (GO:0030234)|protein phosphatase type 1 regulator activity (GO:0008599) cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3) 23 all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096) TTACCTGCTCTGGGGGAGGCG 0.682 NA T||| 378 0.0754792 0.003 0.1398 5008 , , NA 14065 0.2014 NA 0.005 False NA ,,, NA NA NA 2504 0.0706 NA NA NA NSCLC(62;446 1299 5417 11238 27640) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF067136 CCDS2546.1, CCDS63190.1, CCDS63192.1, CCDS63193.1, CCDS63194.1 2q37.3 2012-04-17 2011-10-04 ENSG00000115685 ENSG00000115685 5510 Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits 9295 protein-coding gene gene with protein product 602877 protein phosphatase 1, regulatory (inhibitor) subunit 7 NA 7498485, 7670491, 10231361 Standard NM_002712 NM_001282413 NA Approved sds22 uc002wat.1 Q15435 OTTHUMG00000133390 ENST00000234038.6:c.-188T>C chr2.hg19:g.242089723T>C NA B4DFD4|B5MCY6|Q9UQE5|Q9UQE6|Q9Y6K4 hg19 CCDS2546.1 0.02 5.533744 CTCxGGG COVERED NOVEL PPP1R7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257244.4 1 17.150047 KEEP 0 0 0 57 1736 TT 1 1 0 + 8 60 267 0 0 16.914666 144 60 5205 216 ENST00000234038.6 0.052632 1 PPP1R7 5510 __UNKNOWN__ __UNKNOWN__ 2 242122391 242122391 __UNKNOWN__ 3'UTR SNP T T C rs3868 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:242122391T>C ENST00000234038.6 + 0 1710 PPP1R7_ENST00000407025.1_3'UTR|PPP1R7_ENST00000272983.8_3'UTR NM_001282412.1|NM_001282413.1|NM_002712.1 NP_001269341.1|NP_001269342.1|NP_002703.1 Q15435 PP1R7_HUMAN protein phosphatase 1, regulatory subunit 7 NA NA positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790) chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) enzyme regulator activity (GO:0030234)|protein phosphatase type 1 regulator activity (GO:0008599) cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3) 23 all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096) GCGCGCGACGTCACACACCAT 0.483 NA C||| 4102 0.819089 0.7859 0.866 5008 , , NA 20183 0.9276 NA 0.7903 False NA ,,, NA NA NA 2504 0.7485 NA NA NA NSCLC(62;446 1299 5417 11238 27640) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF067136 CCDS2546.1, CCDS63190.1, CCDS63192.1, CCDS63193.1, CCDS63194.1 2q37.3 2012-04-17 2011-10-04 ENSG00000115685 ENSG00000115685 5510 Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits 9295 protein-coding gene gene with protein product 602877 protein phosphatase 1, regulatory (inhibitor) subunit 7 NA 7498485, 7670491, 10231361 Standard NM_002712 NM_001282413 NA Approved sds22 uc002wat.1 Q15435 OTTHUMG00000133390 ENST00000234038.6:c.*153T>C chr2.hg19:g.242122391T>C NA B4DFD4|B5MCY6|Q9UQE5|Q9UQE6|Q9Y6K4 hg19 CCDS2546.1 0.02 12.990145 ACGxCAC COVERED NOVEL PPP1R7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257244.4 1 9.362712 KEEP 0 1 34 43 1367 TT 1 1 0 + 16 60 518 0 0 32.994036 285 60 10032 379 ENST00000234038.6 0.053156 1 ANO7 50636 __UNKNOWN__ __UNKNOWN__ 2 242142921 242142921 __UNKNOWN__ Intron SNP C C T rs77640154 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:242142921C>T ENST00000274979.8 + 9 1154 ANO7_ENST00000402430.3_Intron NM_001001891.3 NP_001001891.2 Q6IWH7 ANO7_HUMAN anoctamin 7 NA NA calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085) cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886) intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128) NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 32 TCGGTGAGTCCCCCCCGCTGC 0.677 NA C||| 482 0.096246 0.0915 0.1599 5008 , , NA 11017 0.1766 NA 0.003 False NA ,,, NA NA NA 2504 0.0706 NA NA NA NA 0 C 326,3992 18,290,1851 24 19 20 -0.4 0 2 dbSNP_131 20 52,8462 0,52,4205 no intron ANO7 NM_001001891.3 18,342,6056 TT,TC,CC 0.6108,7.5498,2.9458 242142921 378,12454 2159 4257 6416 SO:0001627 intron_variant AY617079 CCDS33423.1, CCDS46563.1 2q37.3 2014-04-09 2008-08-28 2008-08-28 ENSG00000146205 ENSG00000146205 50636 Ion channels / Chloride channels : Calcium activated : Anoctamins 31677 protein-coding gene gene with protein product 605096 transmembrane protein 16G PCANAP5, TMEM16G NA 14981236, 15375614, 24692353 Standard NM_001001891 NM_001001891 NA Approved NGEP, PCANAP5L, IPCA-5 uc002wax.2 Q6IWH7 OTTHUMG00000151702 ENST00000274979.8:c.1051+8C>T chr2.hg19:g.242142921C>T NA Q6IWH6 hg19 CCDS33423.1 0.02 1.959969 GTCxCCC COVERED NOVEL ANO7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000323509.1 0 7.222902 KEEP 0 0 0 24 842 CC 0.999909 0.999397 0 + 4 60 153 0 0 10.248354 79 60 2863 149 ENST00000274979.8 0.048193 0.999487 ANO7 50636 __UNKNOWN__ __UNKNOWN__ 2 242151675 242151675 __UNKNOWN__ Intron SNP T T C rs12473431 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:242151675T>C ENST00000274979.8 + 16 1938 ANO7_ENST00000402430.3_Intron NM_001001891.3 NP_001001891.2 Q6IWH7 ANO7_HUMAN anoctamin 7 NA NA calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085) cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886) intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128) NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 32 GTTCTGCTCATGTTTCCCGCT 0.622 NA T||| 469 0.0936502 0.0061 0.2666 5008 , , NA 21022 0.1696 NA 0.004 False NA ,,, NA NA NA 2504 0.1033 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY617079 CCDS33423.1, CCDS46563.1 2q37.3 2014-04-09 2008-08-28 2008-08-28 ENSG00000146205 ENSG00000146205 50636 Ion channels / Chloride channels : Calcium activated : Anoctamins 31677 protein-coding gene gene with protein product 605096 transmembrane protein 16G PCANAP5, TMEM16G NA 14981236, 15375614, 24692353 Standard NM_001001891 NM_001001891 NA Approved NGEP, PCANAP5L, IPCA-5 uc002wax.2 Q6IWH7 OTTHUMG00000151702 ENST00000274979.8:c.1835+55T>C chr2.hg19:g.242151675T>C NA Q6IWH6 hg19 CCDS33423.1 0.02 22.739778 TCAxGTT COVERED NOVEL ANO7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000323509.1 0 17.753067 KEEP 0 0 0 59 1848 TT 1 1 0 + 30 60 979 0 0 61.684532 521 60 19182 735 ENST00000274979.8 0.054446 1 ANO7 50636 __UNKNOWN__ __UNKNOWN__ 2 242162732 242162732 __UNKNOWN__ Intron SNP G G C rs13392669 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:242162732G>C ENST00000274979.8 + 22 2677 ANO7_ENST00000402430.3_Missense_Mutation_p.R871T NM_001001891.3 NP_001001891.2 Q6IWH7 ANO7_HUMAN anoctamin 7 NA NA calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085) cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886) intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128) NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 32 CATGGCATGAGGCCCCGACCC 0.557 NA c||| 1170 0.233626 0.5287 0.3026 5008 , , NA 20608 0.1438 NA 0.0119 False NA ,,, NA NA NA 2504 0.1063 NA NA NA NA 0 T 2153,2253 594.9+/-388.3 530,1093,580 109 89 96 -2.8 0 2 dbSNP_121 96 129,8471 813.7+/-407.0 0,129,4171 no intron ANO7 NM_001001891.3 530,1222,4751 CC,CG,GG 1.5,48.8652,17.5457 242162732 2282,10724 2203 4300 6503 SO:0001627 intron_variant AY617079 CCDS33423.1, CCDS46563.1 2q37.3 2014-04-09 2008-08-28 2008-08-28 ENSG00000146205 ENSG00000146205 50636 Ion channels / Chloride channels : Calcium activated : Anoctamins 31677 protein-coding gene gene with protein product 605096 transmembrane protein 16G PCANAP5, TMEM16G NA 14981236, 15375614, 24692353 Standard NM_001001891 NM_001001891 NA Approved NGEP, PCANAP5L, IPCA-5 uc002wax.2 Q6IWH7 OTTHUMG00000151702 ENST00000274979.8:c.2574+41G>C chr2.hg19:g.242162732G>C NA Q6IWH6 hg19 CCDS33423.1 0.02 7.695462 TGAxGCC COVERED 433 0.19826007326007325 255 0.5182926829268293 89 0.24585635359116023 80 0.13986013986013987 9 0.011873350923482849 c 1.505 -0.551009 0.03996 0.488652 0.015 ENSG00000146205 ENST00000402430 T 0.71222 -0.55 1.41 -2.82 0.05787 . . . . . T 0.00012 0.0000 . . . 0.80722 P 0.0 . . . . . . T 0.33137 -0.9880 4 . . . . 4.7959 0.13272 0.0:0.2292:0.2978:0.473 rs13392669;rs13392669 . . . T 871 ENSP00000385418:R871T . R + 2 0 ANO7 241811405 0.000000 0.05858 0.000000 0.03702 0.003000 0.03518 -2.299000 0.01139 -3.440000 0.00163 -3.025000 0.00073 AGG NOVEL ANO7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000323509.1 1 17.75761 KEEP 0 0 0 59 2111 GG 1 1 0 + 7 60 242 0 0 14.193328 205 60 7560 332 ENST00000274979.8 0.033019 1 ANO7 50636 __UNKNOWN__ __UNKNOWN__ 2 242163229 242163229 __UNKNOWN__ Intron SNP C C G rs2305070 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:242163229C>G ENST00000274979.8 + 23 2797 NM_001001891.3 NP_001001891.2 Q6IWH7 ANO7_HUMAN anoctamin 7 NA NA calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085) cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886) intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128) NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 32 GGCCCTCCCCCCAGCCCTCTC 0.557 NA C||| 433 0.0864617 0.0061 0.2594 5008 , , NA 18423 0.1458 NA 0.004 False NA ,,, NA NA NA 2504 0.0961 NA NA NA NA 0 C 23,4383 27.2+/-55.0 0,23,2180 86 82 84 0.9 0 2 dbSNP_100 84 37,8563 24.6+/-71.5 0,37,4263 no intron ANO7 NM_001001891.3 0,60,6443 GG,GC,CC 0.4302,0.522,0.4613 242163229 60,12946 2203 4300 6503 SO:0001627 intron_variant AY617079 CCDS33423.1, CCDS46563.1 2q37.3 2014-04-09 2008-08-28 2008-08-28 ENSG00000146205 ENSG00000146205 50636 Ion channels / Chloride channels : Calcium activated : Anoctamins 31677 protein-coding gene gene with protein product 605096 transmembrane protein 16G PCANAP5, TMEM16G NA 14981236, 15375614, 24692353 Standard NM_001001891 NM_001001891 NA Approved NGEP, PCANAP5L, IPCA-5 uc002wax.2 Q6IWH7 OTTHUMG00000151702 ENST00000274979.8:c.2694+33C>G chr2.hg19:g.242163229C>G NA Q6IWH6 hg19 CCDS33423.1 0.02 8.476082 CCCxCAG COVERED NOVEL ANO7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000323509.1 4 15.952085 KEEP 0 0 0 53 1890 CC 1 1 0 + 12 60 427 0 0 27.612777 234 60 8613 366 ENST00000274979.8 0.04878 1 ANO7 50636 __UNKNOWN__ __UNKNOWN__ 2 242164246 242164246 __UNKNOWN__ 3'UTR SNP G G A rs3732225 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:242164246G>A ENST00000274979.8 + 0 3583 NM_001001891.3 NP_001001891.2 Q6IWH7 ANO7_HUMAN anoctamin 7 NA NA calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085) cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886) intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128) NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 32 GCAATTACATGTGTCCTTTTG 0.547 NA G||| 114 0.0227636 0.0008 0.1268 5008 , , NA 19469 0.0238 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY617079 CCDS33423.1, CCDS46563.1 2q37.3 2014-04-09 2008-08-28 2008-08-28 ENSG00000146205 ENSG00000146205 50636 Ion channels / Chloride channels : Calcium activated : Anoctamins 31677 protein-coding gene gene with protein product 605096 transmembrane protein 16G PCANAP5, TMEM16G NA 14981236, 15375614, 24692353 Standard NM_001001891 NM_001001891 NA Approved NGEP, PCANAP5L, IPCA-5 uc002wax.2 Q6IWH7 OTTHUMG00000151702 ENST00000274979.8:c.*678G>A chr2.hg19:g.242164246G>A NA Q6IWH6 hg19 CCDS33423.1 0.02 16.356933 CATxTGT COVERED NOVEL ANO7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000323509.1 0 27.389418 KEEP 0 0 0 91 3224 GG 1 1 0 + 12 60 429 0 0 25.040897 403 60 15226 605 ENST00000274979.8 0.028916 1 ANO7 50636 __UNKNOWN__ __UNKNOWN__ 2 242164557 242164557 __UNKNOWN__ 3'UTR SNP G G T rs4675979 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:242164557G>T ENST00000274979.8 + 0 3894 NM_001001891.3 NP_001001891.2 Q6IWH7 ANO7_HUMAN anoctamin 7 NA NA calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085) cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886) intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128) NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 32 CAATCCCAGTGTGGCCGTCTG 0.478 NA G||| 428 0.0854633 0.0061 0.2594 5008 , , NA 20901 0.1389 NA 0.004 False NA ,,, NA NA NA 2504 0.0982 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY617079 CCDS33423.1, CCDS46563.1 2q37.3 2014-04-09 2008-08-28 2008-08-28 ENSG00000146205 ENSG00000146205 50636 Ion channels / Chloride channels : Calcium activated : Anoctamins 31677 protein-coding gene gene with protein product 605096 transmembrane protein 16G PCANAP5, TMEM16G NA 14981236, 15375614, 24692353 Standard NM_001001891 NM_001001891 NA Approved NGEP, PCANAP5L, IPCA-5 uc002wax.2 Q6IWH7 OTTHUMG00000151702 ENST00000274979.8:c.*989G>T chr2.hg19:g.242164557G>T NA Q6IWH6 hg19 CCDS33423.1 0.02 6.405168 AGTxTGG COVERED NOVEL ANO7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000323509.1 2 11.13631 KEEP 0 0 0 37 1327 GG 1 1 0 + 9 60 331 0 0 21.707297 179 60 6757 289 ENST00000274979.8 0.047872 1 HDLBP 3069 __UNKNOWN__ __UNKNOWN__ 2 242167163 242167163 __UNKNOWN__ 3'UTR SNP G G C rs10892 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:242167163G>C ENST00000391975.1 - 0 5887 NM_203346.3 NP_976221 Q00341 VIGLN_HUMAN high density lipoprotein binding protein NA NA cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869) cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886) lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822) breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928) ATGGAGATTGGGGGGAGCTGG 0.542 NA G||| 1079 0.215455 0.4675 0.3055 5008 , , NA 19720 0.1379 NA 0.008 False NA ,,, NA NA NA 2504 0.1043 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS2547.1, CCDS58760.1 2q37.3 2008-07-18 2008-07-18 ENSG00000115677 ENSG00000115677 3069 4857 protein-coding gene gene with protein product 142695 vigilin VGL NA 1318310, 8390966 Standard NM_203346 NM_005336 NA Approved HBP uc002waz.3 Q00341 OTTHUMG00000133391 ENST00000391975.1:c.*1853C>G chr2.hg19:g.242167163G>C NA B4DTQ2|E7EM71|Q53QU2|Q9UCY3 hg19 CCDS2547.1 0.02 3.563478 TTGxGGG COVERED NOVEL HDLBP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257245.5 1 10.533578 KEEP 0 0 0 35 1211 GG 0.999999 0.999999 0 - 6 60 191 0 0 11.486821 121 60 4388 201 ENST00000391975.1 0.047244 1 SEPT2 4735 __UNKNOWN__ __UNKNOWN__ 2 242276244 242276244 __UNKNOWN__ Intron SNP C C T rs7424124 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:242276244C>T ENST00000391973.2 + 6 869 SEPT2_ENST00000402092.2_Intron|SEPT2_ENST00000407971.1_Intron|SEPT2_ENST00000360051.3_Intron|SEPT2_ENST00000391971.2_Intron|SEPT2_ENST00000401990.1_Intron NM_006155.1 NP_006146.1 Q15019 SEPT2_HUMAN septin 2 NA NA cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|neuron projection development (GO:0031175)|regulation of L-glutamate transport (GO:0002036)|regulation of protein localization (GO:0032880)|smoothened signaling pathway (GO:0007224) actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|synapse (GO:0045202) enzyme regulator activity (GO:0030234)|GTP binding (GO:0005525) central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2) 12 all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889) ggtgcgatggctcatgcctgt 0.542 NA C||| 427 0.0852636 0.0068 0.2637 5008 , , NA 19129 0.1349 NA 0.004 False NA ,,, NA NA NA 2504 0.0971 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D28540 CCDS2548.1, CCDS63195.1, CCDS74682.1 2q37.3 2013-01-21 2005-01-11 2005-01-12 ENSG00000168385 ENSG00000168385 4735 Septins 7729 protein-coding gene gene with protein product 601506 neural precursor cell expressed, developmentally down-regulated 5 DIFF6, NEDD5 NA 8697812 Standard NM_006155 XM_005247011 NA Approved KIAA0158, hNedd5, Pnutl3 uc002wbd.3 Q15019 OTTHUMG00000133394 ENST00000391973.2:c.342-553C>T chr2.hg19:g.242276244C>T NA B4DGE8|Q14132|Q53QU3|Q8IUK9|Q96CB0 hg19 CCDS2548.1 0.02 7.644964 TGGxTCA COVERED NOVEL SEPT2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000323177.3 10 20.402311 KEEP 0 1 35 80 2907 CC 1 1 0 + 7 60 252 0 0 14.951164 222 60 8477 366 ENST00000391973.2 0.030568 1 SEPT2 4735 __UNKNOWN__ __UNKNOWN__ 2 242289419 242289419 __UNKNOWN__ Intron SNP A A G rs2302016 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:242289419A>G ENST00000391973.2 + 12 1512 SEPT2_ENST00000402092.2_Intron|SEPT2_ENST00000407971.1_Intron|SEPT2_ENST00000360051.3_Intron|SEPT2_ENST00000391971.2_Intron|SEPT2_ENST00000401990.1_Intron NM_006155.1 NP_006146.1 Q15019 SEPT2_HUMAN septin 2 NA NA cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|neuron projection development (GO:0031175)|regulation of L-glutamate transport (GO:0002036)|regulation of protein localization (GO:0032880)|smoothened signaling pathway (GO:0007224) actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|synapse (GO:0045202) enzyme regulator activity (GO:0030234)|GTP binding (GO:0005525) central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2) 12 all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889) TAGGAATCACAGAACACCCAG 0.363 NA A||| 426 0.0850639 0.0053 0.2637 5008 , , NA 18792 0.1359 NA 0.004 False NA ,,, NA NA NA 2504 0.0971 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D28540 CCDS2548.1, CCDS63195.1, CCDS74682.1 2q37.3 2013-01-21 2005-01-11 2005-01-12 ENSG00000168385 ENSG00000168385 4735 Septins 7729 protein-coding gene gene with protein product 601506 neural precursor cell expressed, developmentally down-regulated 5 DIFF6, NEDD5 NA 8697812 Standard NM_006155 XM_005247011 NA Approved KIAA0158, hNedd5, Pnutl3 uc002wbd.3 Q15019 OTTHUMG00000133394 ENST00000391973.2:c.985-69A>G chr2.hg19:g.242289419A>G NA B4DGE8|Q14132|Q53QU3|Q8IUK9|Q96CB0 hg19 CCDS2548.1 0.02 7.859684 CACxGAA COVERED NOVEL SEPT2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000323177.3 0 26.482024 KEEP 0 0 0 88 2844 AA 1 1 0 + 11 60 366 0 0 22.297826 238 60 8734 409 ENST00000391973.2 0.044177 1 FARP2 9855 __UNKNOWN__ __UNKNOWN__ 2 242380748 242380748 __UNKNOWN__ Silent SNP T T A rs2302015 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:242380748T>A ENST00000264042.3 + 13 1358 c.1188T>A c.(1186-1188)acT>acA p.T396T FARP2_ENST00000373287.4_Silent_p.T396T|FARP2_ENST00000545004.1_Silent_p.T396T NM_014808.2 NP_055623.1 O94887 FARP2_HUMAN FERM, RhoGEF and pleckstrin domain protein 2 396 NA actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898) Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 43 all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121) GATTGAGGACTCCTGCCTCCC 0.483 NA T||| 427 0.0852636 0.0053 0.2637 5008 , , NA 17915 0.1359 NA 0.004 False NA ,,, NA NA NA 2504 0.0982 NA NA NA NA 0 T 22,4384 28.1+/-56.4 0,22,2181 113 105 108 1188 -9.2 0 2 dbSNP_100 108 39,8561 25.7+/-73.6 0,39,4261 no coding-synonymous FARP2 NM_014808.2 0,61,6442 AA,AT,TT 0.4535,0.4993,0.469 396/1055 242380748 61,12945 2203 4300 6503 SO:0001819 synonymous_variant AB018336 CCDS33424.1, CCDS63197.1 2q37.3 2013-01-10 ENSG00000006607 ENSG00000006607 9855 Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing 16460 protein-coding gene gene with protein product NA 9872452, 12351724 Standard NM_001282984 NA Approved KIAA0793, FIR, PLEKHC3, FRG uc002wbi.2 O94887 OTTHUMG00000151574 ENST00000264042.3:c.1188T>A chr2.hg19:g.242380748T>A NA B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7 hg19 CCDS33424.1 0.02 13.540582 GACxCCT COVERED NOVEL FARP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000323153.1 1 18.344347 KEEP 0 0 0 61 1845 TT 1 1 0 + 24 60 843 0 0 58.453396 305 60 11181 498 ENST00000264042.3 0.072948 1 FARP2 9855 __UNKNOWN__ __UNKNOWN__ 2 242396087 242396087 __UNKNOWN__ Intron SNP A A T rs2074774 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:242396087A>T ENST00000264042.3 + 14 1581 FARP2_ENST00000373287.4_Intron|FARP2_ENST00000545004.1_Intron NM_014808.2 NP_055623.1 O94887 FARP2_HUMAN FERM, RhoGEF and pleckstrin domain protein 2 NA NA actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898) Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 43 all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121) TGGTCAGGAGAGTAGTAGCGG 0.512 NA T||| 1551 0.309704 0.2322 0.5591 5008 , , NA 17555 0.248 NA 0.3748 False NA ,,, NA NA NA 2504 0.2342 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB018336 CCDS33424.1, CCDS63197.1 2q37.3 2013-01-10 ENSG00000006607 ENSG00000006607 9855 Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing 16460 protein-coding gene gene with protein product NA 9872452, 12351724 Standard NM_001282984 NA Approved KIAA0793, FIR, PLEKHC3, FRG uc002wbi.2 O94887 OTTHUMG00000151574 ENST00000264042.3:c.1412-75A>T chr2.hg19:g.242396087A>T NA B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7 hg19 CCDS33424.1 0.02 14.565358 GAGxGTA COVERED NOVEL FARP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000323153.1 1 17.104253 KEEP 0 0 0 57 1772 AA 1 1 0 + 19 60 626 0 0 39.454736 340 60 11772 518 ENST00000264042.3 0.052925 1 FARP2 9855 __UNKNOWN__ __UNKNOWN__ 2 242402062 242402062 __UNKNOWN__ Intron SNP A A T rs4675811 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:242402062A>T ENST00000264042.3 + 15 1847 FARP2_ENST00000373287.4_Intron|FARP2_ENST00000545004.1_Intron NM_014808.2 NP_055623.1 O94887 FARP2_HUMAN FERM, RhoGEF and pleckstrin domain protein 2 NA NA actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898) Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 43 all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121) ATTTTTTTTTAAAATAAATCT 0.358 NA T||| 1095 0.21865 0.1641 0.4193 5008 , , NA 20891 0.252 NA 0.1481 False NA ,,, NA NA NA 2504 0.1881 NA NA NA NA 0 - 575,3831 62,451,1690 35 37 36 -2 0 2 dbSNP_111 36 1133,7467 107,919,3274 no intron FARP2 NM_014808.2 169,1370,4964 TT,TA,AA 13.1744,13.0504,13.1324 242402062 1708,11298 2203 4300 6503 SO:0001627 intron_variant AB018336 CCDS33424.1, CCDS63197.1 2q37.3 2013-01-10 ENSG00000006607 ENSG00000006607 9855 Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing 16460 protein-coding gene gene with protein product NA 9872452, 12351724 Standard NM_001282984 NA Approved KIAA0793, FIR, PLEKHC3, FRG uc002wbi.2 O94887 OTTHUMG00000151574 ENST00000264042.3:c.1677+35A>T chr2.hg19:g.242402062A>T NA B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7 hg19 CCDS33424.1 0.02 8.518454 TTTxAAA COVERED NOVEL FARP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000323153.1 5 9.326527 KEEP 0 0 0 31 918 AA 0.999997 0.999997 0 + 11 60 396 0 0 26.140015 198 60 7155 271 ENST00000264042.3 0.052632 1 FARP2 9855 __UNKNOWN__ __UNKNOWN__ 2 242418362 242418362 __UNKNOWN__ Intron SNP C C T rs2286277 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:242418362C>T ENST00000264042.3 + 19 2432 NM_014808.2 NP_055623.1 O94887 FARP2_HUMAN FERM, RhoGEF and pleckstrin domain protein 2 NA NA actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898) Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 43 all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121) GCCAGTGAACCCAGAAAGAAG 0.428 NA C||| 286 0.0571086 0.0045 0.2594 5008 , , NA 22855 0.0903 NA 0.001 False NA ,,, NA NA NA 2504 0.0082 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB018336 CCDS33424.1, CCDS63197.1 2q37.3 2013-01-10 ENSG00000006607 ENSG00000006607 9855 Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing 16460 protein-coding gene gene with protein product NA 9872452, 12351724 Standard NM_001282984 NA Approved KIAA0793, FIR, PLEKHC3, FRG uc002wbi.2 O94887 OTTHUMG00000151574 ENST00000264042.3:c.2262+2960C>T chr2.hg19:g.242418362C>T NA B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7 hg19 CCDS33424.1 0.02 8.793551 AACxCAG COVERED NOVEL FARP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000323153.1 2 19.536017 KEEP 0 0 0 65 2211 CC 1 1 0 + 13 60 469 0 0 31.019799 233 60 8399 363 ENST00000264042.3 0.052846 1 STK25 10494 __UNKNOWN__ __UNKNOWN__ 2 242432704 242432704 __UNKNOWN__ 3'UTR SNP G G C rs2271030 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:242432704G>C ENST00000316586.4 - 0 4003 FARP2_ENST00000264042.3_Intron NM_001271977.1|NM_001271978.1|NM_001282308.1 NP_001258906.1|NP_001258907.1|NP_001269237.1 O00506 STK25_HUMAN serine/threonine kinase 25 NA NA establishment or maintenance of cell polarity (GO:0007163)|Golgi localization (GO:0051645)|positive regulation of axonogenesis (GO:0050772)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165) extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674) breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 10 all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2) Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839) ATGCTGTCTTGCAGGATGACT 0.597 NA C||| 1571 0.313698 0.2337 0.5663 5008 , , NA 19739 0.249 NA 0.3857 False NA ,,, NA NA NA 2504 0.2352 NA NA NA NSCLC(99;1100 1566 7679 28647 48345) NA 0 C 1185,3221 708.2+/-407.6 163,859,1181 54 49 51 -2 0.1 2 dbSNP_100 51 3126,5474 656.2+/-401.3 563,2000,1737 no intron FARP2 NM_014808.2 726,2859,2918 CC,CG,GG 36.3488,26.8951,33.1462 242432704 4311,8695 2203 4300 6503 SO:0001624 3_prime_UTR_variant D63780 CCDS2549.1, CCDS63199.1, CCDS63200.1 2q37.3 2010-06-25 2010-06-25 ENSG00000115694 ENSG00000115694 10494 11404 protein-coding gene gene with protein product 602255 serine/threonine kinase 25 (Ste20, yeast homolog) NA 8887545, 9160885, 15037601 Standard NM_006374 NM_001271977 NA Approved SOK1, YSK1 uc002wbp.4 O00506 OTTHUMG00000133408 ENST00000316586.4:c.*2373C>G chr2.hg19:g.242432704G>C NA A8K6Z3|A8K7D2|B7Z9K1|Q15522|Q5BJF1 hg19 CCDS2549.1 0.02 9.434403 CTTxCAG COVERED NOVEL STK25-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257265.4 0 6.320393 KEEP 0 0 0 21 732 GG 0.999869 0.999869 0 - 9 60 326 0 0 20.827185 198 60 7486 268 ENST00000316586.4 0.043478 1 STK25 10494 __UNKNOWN__ __UNKNOWN__ 2 242434809 242434809 __UNKNOWN__ 3'UTR SNP G G T rs9052 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:242434809G>T ENST00000316586.4 - 0 1898 STK25_ENST00000405883.3_3'UTR|STK25_ENST00000543554.1_3'UTR|STK25_ENST00000405585.1_3'UTR|STK25_ENST00000401869.1_3'UTR|STK25_ENST00000403346.3_3'UTR NM_001271977.1|NM_001271978.1|NM_001282308.1 NP_001258906.1|NP_001258907.1|NP_001269237.1 O00506 STK25_HUMAN serine/threonine kinase 25 NA NA establishment or maintenance of cell polarity (GO:0007163)|Golgi localization (GO:0051645)|positive regulation of axonogenesis (GO:0050772)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165) extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674) breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 10 all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2) Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839) CCACGCCGGCGGCTGGAGCCC 0.637 NA T||| 1103 0.220248 0.1929 0.3833 5008 , , NA 17843 0.245 NA 0.1491 False NA ,,, NA NA NA 2504 0.1892 NA NA NA NSCLC(99;1100 1566 7679 28647 48345) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D63780 CCDS2549.1, CCDS63199.1, CCDS63200.1 2q37.3 2010-06-25 2010-06-25 ENSG00000115694 ENSG00000115694 10494 11404 protein-coding gene gene with protein product 602255 serine/threonine kinase 25 (Ste20, yeast homolog) NA 8887545, 9160885, 15037601 Standard NM_006374 NM_001271977 NA Approved SOK1, YSK1 uc002wbp.4 O00506 OTTHUMG00000133408 ENST00000316586.4:c.*268C>A chr2.hg19:g.242434809G>T NA A8K6Z3|A8K7D2|B7Z9K1|Q15522|Q5BJF1 hg19 CCDS2549.1 0.02 6.541001 GGCxGCT COVERED NOVEL STK25-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257265.4 1 4.21375 KEEP 0 0 0 14 496 GG 0.995343 0.995343 0 - 13 60 476 0 0 33.376471 172 60 5847 223 ENST00000316586.4 0.07027 1 THAP4 51078 __UNKNOWN__ __UNKNOWN__ 2 242573211 242573211 __UNKNOWN__ Missense_Mutation SNP T T C rs7424328 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:242573211T>C ENST00000407315.1 - 2 792 c.361A>G c.(361-363)Agc>Ggc p.S121G NM_015963.5 NP_057047.4 Q8WY91 THAP4_HUMAN THAP domain containing 4 121 NA S -> G (in dbSNP:rs7424328). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:15498874}. DNA binding (GO:0003677)|metal ion binding (GO:0046872) kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1) 9 all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2) Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844) GCTCCTCTGCTGGTGGCGGCA 0.637 NA C||| 3055 0.610024 0.5257 0.5908 5008 , , NA 18238 0.8889 NA 0.4592 False NA ,,, NA NA NA 2504 0.6053 NA NA NA NA 0 C GLY/SER 2226,2180 580.5+/-385.1 555,1116,532 74 75 74 361 -1.9 0 2 dbSNP_116 74 3893,4699 602.4+/-394.5 893,2107,1296 yes missense THAP4 NM_015963.5 56 1448,3223,1828 CC,CT,TT 45.3096,49.478,47.0765 benign 121/578 242573211 6119,6879 2203 4296 6499 SO:0001583 missense AF258556 CCDS2551.1, CCDS54440.1 2q37.3 2013-01-25 ENSG00000176946 ENSG00000176946 51078 THAP (C2CH-type zinc finger) domain containing 23187 protein-coding gene gene with protein product 612533 NA 12575992, 10810093 Standard NM_015963 NM_015963 NA Approved CGI-36 uc002wbt.3 Q8WY91 OTTHUMG00000133410 ENST00000407315.1:c.361A>G chr2.hg19:g.242573211T>C ENSP00000385006:p.Ser121Gly NA Q53NU7|Q6GRN0|Q6IPJ3|Q9NW26|Q9Y325 hg19 CCDS2551.1 0.02 6.804743 TGCxGGT COVERED 1302 0.5961538461538461 258 0.524390243902439 198 0.5469613259668509 499 0.8723776223776224 347 0.4577836411609499 C 0.108 -1.141827 0.01728 0.50522 0.453096 ENSG00000176946 ENST00000407315 D 0.95690 -3.78 4.69 -1.86 0.07760 . 1.710450 0.03691 N 0.247116 T 0.00012 0.0000 N 0.01168 -0.975 0.58432 P 5.999999999950489E-6 B 0.02656 0.0 B 0.01281 0.0 T 0.32134 -0.9918 9 0.10636 T 0.68 -7.9501 5.9451 0.19213 0.1647:0.3858:0.0:0.4495 rs7424328 121 Q8WY91 THAP4_HUMAN G 121 ENSP00000385006:S121G ENSP00000385006:S121G S - 1 0 THAP4 242221884 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -0.450000 0.06803 -0.591000 0.05859 -1.557000 0.00889 AGC NOVEL THAP4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257267.3 0 26.478196 KEEP 0 0 0 88 2745 TT 1 1 0 - 12 60 409 0 0 27.25986 176 60 6398 332 ENST00000407315.1 0.06383 1 ING5 84289 __UNKNOWN__ __UNKNOWN__ 2 242648545 242648545 __UNKNOWN__ Intron SNP C C T rs7595652 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:242648545C>T ENST00000313552.6 + 3 135 ING5_ENST00000482774.1_Intron|ING5_ENST00000406941.1_Intron NM_032329.4 NP_115705.2 Q8WYH8 ING5_HUMAN inhibitor of growth family, member 5 NA NA chromatin organization (GO:0006325)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|transcription, DNA-templated (GO:0006351) MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270) large_intestine(1)|lung(1)|skin(1) 3 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839) cacaacttggcgttggctgac 0.517 NA T||| 1400 0.279553 0.1528 0.5086 5008 , , NA 22960 0.1875 NA 0.4861 False NA ,,, NA NA NA 2504 0.1708 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF189286 CCDS33425.1 2q37.3 2013-01-28 ENSG00000168395 ENSG00000168395 84289 Zinc fingers, PHD-type 19421 protein-coding gene gene with protein product 608525 NA 12750254 Standard NM_032329 NM_032329 NA Approved FLJ23842, p28ING5 uc002wcd.3 Q8WYH8 OTTHUMG00000151501 ENST00000313552.6:c.110-86C>T chr2.hg19:g.242648545C>T NA A8K1P3|Q53NU6|Q57Z54|Q9BS30 hg19 CCDS33425.1 0.02 3.827531 TGGxGTT COVERED NOVEL ING5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322901.3 1 2.942667 KEEP 0 1 32 21 710 CC 0.999879 0.999879 0 + 6 60 203 0 0 12.592014 125 60 4566 174 ENST00000313552.6 0.045802 1 ING5 84289 __UNKNOWN__ __UNKNOWN__ 2 242648549 242648549 __UNKNOWN__ Intron SNP G G A rs7568408 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:242648549G>A ENST00000313552.6 + 3 135 ING5_ENST00000482774.1_Intron|ING5_ENST00000406941.1_Intron NM_032329.4 NP_115705.2 Q8WYH8 ING5_HUMAN inhibitor of growth family, member 5 NA NA chromatin organization (GO:0006325)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|transcription, DNA-templated (GO:0006351) MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270) large_intestine(1)|lung(1)|skin(1) 3 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839) acttggcgttggctgacttta 0.512 NA G||| 1400 0.279553 0.1528 0.5086 5008 , , NA 22976 0.1875 NA 0.4861 False NA ,,, NA NA NA 2504 0.1708 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF189286 CCDS33425.1 2q37.3 2013-01-28 ENSG00000168395 ENSG00000168395 84289 Zinc fingers, PHD-type 19421 protein-coding gene gene with protein product 608525 NA 12750254 Standard NM_032329 NM_032329 NA Approved FLJ23842, p28ING5 uc002wcd.3 Q8WYH8 OTTHUMG00000151501 ENST00000313552.6:c.110-82G>A chr2.hg19:g.242648549G>A NA A8K1P3|Q53NU6|Q57Z54|Q9BS30 hg19 CCDS33425.1 0.02 3.857086 GTTxGCT COVERED NOVEL ING5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322901.3 0 6.314695 KEEP 0 0 0 21 722 GG 0.999869 0.999869 0 + 6 60 217 0 0 13.829701 133 60 5020 181 ENST00000313552.6 0.043165 1 NEU4 129807 __UNKNOWN__ __UNKNOWN__ 2 242750231 242750231 __UNKNOWN__ 5'UTR SNP T T G rs35392728 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:242750231T>G ENST00000407683.1 + 0 312 AC114730.3_ENST00000439270.1_RNA|AC114730.3_ENST00000413820.1_RNA NM_001167600.1|NM_001167601.1 NP_001161072.1|NP_001161073.1 Q8WWR8 NEUR4_HUMAN sialidase 4 NA NA ganglioside catabolic process (GO:0006689)|glycoprotein catabolic process (GO:0006516)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665) lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|organelle inner membrane (GO:0019866) exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308) breast(1)|lung(10)|prostate(2)|skin(2) 15 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825) AGGGTTGGACTCAGTGGCCGC 0.662 NA -||| 1747 0.348842 0.3563 0.2464 5008 , , NA 14923 0.3333 NA 0.2873 False NA ,,, NA NA NA 2504 0.4908 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant BC012899 CCDS2553.1, CCDS54441.1, CCDS54442.1 2q37.3 2008-02-05 ENSG00000204099 ENSG00000204099 129807 21328 protein-coding gene gene with protein product 608527 NA Standard NM_080741 NM_001167600 NA Approved uc010fzr.3 Q8WWR8 OTTHUMG00000133412 ENST00000407683.1:c.-142T>G chr2.hg19:g.242750231T>G NA A8K056|J3KNJ5|Q96D64 hg19 CCDS54442.1 0.02 2.079207 GACxCAG COVERED NOVEL NEU4-007 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322692.1 2 2.707696 KEEP 0 0 0 9 267 TT 0.99254 0.97682 0 + 30 60 972 0 0 94.060399 28 60 1029 71 ENST00000407683.1 0.517241 0.984161 NEU4 129807 __UNKNOWN__ __UNKNOWN__ 2 242754344 242754344 __UNKNOWN__ Intron SNP G G A rs73108258 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:242754344G>A ENST00000391969.2 + 2 527 NEU4_ENST00000404257.1_Intron|NEU4_ENST00000325935.6_Intron|NEU4_ENST00000405370.1_Intron|NEU4_ENST00000407683.1_Intron NM_001167602.1 NP_001161074.1 Q8WWR8 NEUR4_HUMAN sialidase 4 NA NA ganglioside catabolic process (GO:0006689)|glycoprotein catabolic process (GO:0006516)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665) lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|organelle inner membrane (GO:0019866) exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308) breast(1)|lung(10)|prostate(2)|skin(2) 15 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825) GCCTTTACCCGGGTCTCTGTC 0.672 NA G||| 723 0.144369 0.174 0.1153 5008 , , NA 14627 0.1994 NA 0.0656 False NA ,,, NA NA NA 2504 0.1493 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC012899 CCDS2553.1, CCDS54441.1, CCDS54442.1 2q37.3 2008-02-05 ENSG00000204099 ENSG00000204099 129807 21328 protein-coding gene gene with protein product 608527 NA Standard NM_080741 NM_001167600 NA Approved uc010fzr.3 Q8WWR8 OTTHUMG00000133412 ENST00000391969.2:c.-184-127G>A chr2.hg19:g.242754344G>A NA A8K056|J3KNJ5|Q96D64 hg19 CCDS54442.1 0.02 -0.438455 CCCxGGT COVERED NOVEL NEU4-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257270.2 1 2.707219 KEEP 0 0 0 9 264 GG 0.99254 0.952699 0 + 3 60 107 0 0 7.205127 47 60 1488 61 ENST00000391969.2 0.06 0.959859 NEU4 129807 __UNKNOWN__ __UNKNOWN__ 2 242758179 242758179 __UNKNOWN__ Silent SNP C C T rs2293764 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:242758179C>T ENST00000391969.2 + 5 1971 c.1260C>T c.(1258-1260)tcC>tcT p.S420S NEU4_ENST00000404257.1_Silent_p.S432S|NEU4_ENST00000325935.6_Silent_p.S433S|NEU4_ENST00000405370.1_Silent_p.S420S|NEU4_ENST00000407683.1_Silent_p.S420S NM_001167602.1 NP_001161074.1 Q8WWR8 NEUR4_HUMAN sialidase 4 420 NA ganglioside catabolic process (GO:0006689)|glycoprotein catabolic process (GO:0006516)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665) lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|organelle inner membrane (GO:0019866) exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308) breast(1)|lung(10)|prostate(2)|skin(2) 15 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825) GCGGCTACTCCGACCTGGCGT 0.652 NA C||| 1081 0.215855 0.3306 0.1715 5008 , , NA 12562 0.1994 NA 0.161 False NA ,,, NA NA NA 2504 0.1656 NA NA NA NA 0 ,,,, 1025,3263 106,813,1225 10 13 12 1299,1260,1260,1260,1296 -8.5 0.7 2 dbSNP_100 12 987,7445 66,855,3295 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous NEU4 NM_001167599.1,NM_001167600.1,NM_001167601.1,NM_001167602.1,NM_080741.2 ,,,, 172,1668,4520 TT,TC,CC 11.7054,23.9039,15.8176 ,,,, 433/498,420/485,420/485,420/485,432/497 242758179 2012,10708 2144 4216 6360 SO:0001819 synonymous_variant BC012899 CCDS2553.1, CCDS54441.1, CCDS54442.1 2q37.3 2008-02-05 ENSG00000204099 ENSG00000204099 129807 21328 protein-coding gene gene with protein product 608527 NA Standard NM_080741 NM_001167600 NA Approved uc010fzr.3 Q8WWR8 OTTHUMG00000133412 ENST00000391969.2:c.1260C>T chr2.hg19:g.242758179C>T NA A8K056|J3KNJ5|Q96D64 hg19 CCDS54442.1 0.02 9.085998 CTCxGAC COVERED NOVEL NEU4-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257270.2 0 10.232056 KEEP 0 0 0 34 1162 CC 0.999998 0.999998 0 + 9 60 341 0 0 22.007525 215 60 7720 326 ENST00000391969.2 0.040179 1 CXXC11 0 __UNKNOWN__ __UNKNOWN__ 2 242812080 242812080 __UNKNOWN__ Intron SNP T T C rs4973697|rs386657206 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:242812080T>C ENST00000343216.3 + 1 186 NM_173821.2 NP_776182.2 NA NA NA CGGCCAGAGGTTGGGGACCCT 0.677 NA t||| 1491 0.297724 0.289 0.3184 5008 , , NA 13381 0.6081 NA 0.1064 False NA ,,, NA NA NA 2504 0.1718 NA NA NA NA 0 C 956,2950 118,720,1115 18 24 22 0.6 0 2 dbSNP_111 22 737,7579 43,651,3464 no intron C2orf85 NM_173821.2 161,1371,4579 CC,CT,TT 8.8624,24.4752,13.8521 242812080 1693,10529 1953 4158 6111 SO:0001627 intron_variant NA NA NA NA ENST00000343216.3:c.158+14T>C chr2.hg19:g.242812080T>C NA hg19 CCDS42843.1 0.02 3.895244 AGGxTGG COVERED NOVEL CXXC11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322310.1 0 10.530545 KEEP 0 0 0 35 1093 TT 0.999999 0.999999 0 + 5 60 187 0 0 11.628652 141 60 4911 213 ENST00000343216.3 0.034247 1 CXXC11 0 __UNKNOWN__ __UNKNOWN__ 2 242814027 242814027 __UNKNOWN__ Missense_Mutation SNP C C T rs76439282 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:242814027C>T ENST00000343216.3 + 2 348 c.320C>T c.(319-321)cCc>cTc p.P107L NM_173821.2 NP_776182.2 NA NA NA CAGGTGAGGCCCCCGGGCGAG 0.721 NA C||| 494 0.0986422 0.1029 0.0749 5008 , , NA 15151 0.1409 NA 0.0875 False NA ,,, NA NA NA 2504 0.0777 NA NA NA NA 0 LEU/PRO 313,3461 8,297,1582 7 9 9 320 1.6 0.5 2 dbSNP_131 9 574,7570 27,520,3525 no missense C2orf85 NM_173821.2 98 35,817,5107 TT,TC,CC 7.0481,8.2936,7.4425 benign 107/573 242814027 887,11031 1887 4072 5959 SO:0001583 missense NA NA NA NA ENST00000343216.3:c.320C>T chr2.hg19:g.242814027C>T ENSP00000345374:p.Pro107Leu NA hg19 CCDS42843.1 0.02 6.136195 GGCxCCC COVERED 243 0.11126373626373626 53 0.10772357723577236 32 0.08839779005524862 84 0.14685314685314685 74 0.09762532981530343 . 0.004 -2.329476 0.00229 0.082936 0.070481 ENSG00000188011 ENST00000343216 T 0.21543 2.0 2.67 1.63 0.23807 . . . . . T 0.00039 0.0001 N 0.03608 -0.345 0.44477 P 0.0025810000000000555 B 0.24132 0.098 B 0.19391 0.025 T 0.41088 -0.9528 8 0.12766 T 0.61 -17.5277 3.3174 0.07038 0.0:0.6444:0.0:0.3556 . 107 Q14D33 CB085_HUMAN L 107 ENSP00000345374:P107L ENSP00000345374:P107L P + 2 0 C2orf85 242462700 0.003000 0.15002 0.465000 0.27155 0.015000 0.08874 1.225000 0.32551 0.546000 0.28920 0.450000 0.29827 CCC NOVEL CXXC11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322310.1 0 18.96139 KEEP 0 0 0 63 2224 CC 1 1 0 + 6 60 212 0 0 12.912572 157 60 5759 294 ENST00000343216.3 0.03681 1 AC131097.4 0 __UNKNOWN__ __UNKNOWN__ 2 242841399 242841399 __UNKNOWN__ Intron SNP T T G rs76839945 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:242841399T>G ENST00000404031.1 - 1 91 AC131097.4_ENST00000401641.1_Intron|AC131097.3_ENST00000457686.1_RNA|AC131097.3_ENST00000430555.1_RNA|AC131097.3_ENST00000429947.1_RNA|AC131097.3_ENST00000415434.1_RNA NA NA NA GCGCGGGCGCTGTGGCCTGCG 0.652 NA T||| 508 0.101438 0.1467 0.0749 5008 , , NA 14678 0.1419 NA 0.0736 False NA ,,, NA NA NA 2504 0.046 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000404031.1:c.12+1109A>C chr2.hg19:g.242841399T>G NA hg19 0.02 1.786602 CGCxGTG COVERED NOVEL AC131097.4-001 PUTATIVE basic|appris_candidate_longest|exp_conf protein_coding NA protein_coding OTTHUMT00000322415.1 2 7.817268 KEEP 0 0 0 26 757 TT 0.999957 0.999175 0 - 5 60 176 0 0 11.866415 75 60 2649 118 ENST00000404031.1 0.0625 0.999218 AC131097.3 0 __UNKNOWN__ __UNKNOWN__ 2 243008050 243008050 __UNKNOWN__ RNA SNP A A C rs6598993 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:243008050A>C ENST00000415434.1 + 0 310 AC093642.6_ENST00000446593.1_lincRNA NA NA NA gcagtggctcacacctgtaat 0.483 NA a||| 2291 0.457468 0.6377 0.4409 5008 , , NA 14882 0.4454 NA 0.2266 False NA ,,, NA NA NA 2504 0.4755 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000415434.1: chr2.hg19:g.243008050A>C NA hg19 0.02 -0.035092 CTCxCAC UNCOVERED NOVEL AC131097.3-003 KNOWN basic antisense NA antisense OTTHUMT00000322318.1 1 3.007886 KEEP 0 0 0 10 305 AA 0.992708 0.019836 0 + 2 33 72 0 0 6.950014 2 60 72 19 ENST00000415434.1 0.5 0.019982 AC093642.5 0 __UNKNOWN__ __UNKNOWN__ 2 243037022 243037022 __UNKNOWN__ RNA SNP A A T rs147597270 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr2:243037022A>T ENST00000456398.1 + 0 169 NA NA NA TTTAACATAAATTAACTTTTT 0.294 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000456398.1: chr2.hg19:g.243037022A>T NA hg19 0.02 11.543016 TAAxTTA COVERED NOVEL AC093642.5-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000322444.2 4 7.191848 KEEP 3 2 63 46 1506 AA 1 1 0 + 14 60 534 0 0 36.126446 258 60 9166 375 ENST00000456398.1 0.051471 1 CNTN4 152330 __UNKNOWN__ __UNKNOWN__ 3 3099362 3099362 __UNKNOWN__ 3'UTR SNP T T A rs10888 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:3099362T>A ENST00000397461.1 + 0 4923 CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000427331.1_3'UTR|CNTN4_ENST00000418658.1_3'UTR NM_001206955.1 NP_001193884.1 Q8IWV2 CNTN4_HUMAN contactin 4 NA NA axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167) anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886) NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) TCCAATAAAGTCATAATCGGG 0.299 NA T||| 2054 0.410144 0.4251 0.3703 5008 , , NA 15363 0.4534 NA 0.4026 False NA ,,, NA NA NA 2504 0.3814 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AW665944 CCDS2558.1, CCDS43041.1 3p26.3 2013-02-11 ENSG00000144619 ENSG00000144619 152330 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing 2174 protein-coding gene gene with protein product 607280 NA 8586965, 12202991 Standard NM_175607 NA Approved BIG-2 uc003bpc.3 Q8IWV2 OTTHUMG00000119031 ENST00000397461.1:c.*1458T>A chr3.hg19:g.3099362T>A NA B2RAX3|Q8IX14|Q8TC35 hg19 CCDS43041.1 0.02 4.053329 AAGxCAT COVERED NOVEL CNTN4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000239236.2 1 4.211968 KEEP 0 0 0 14 418 TT 0.995343 0.995343 0 + 5 60 179 0 0 11.121455 123 60 4335 155 ENST00000397461.1 0.039062 1 CRBN 51185 __UNKNOWN__ __UNKNOWN__ 3 3192143 3192143 __UNKNOWN__ 3'UTR SNP G G A rs117137374 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:3192143G>A ENST00000231948.4 - 0 1757 CRBN_ENST00000432408.2_3'UTR NM_016302.3 NP_057386.2 Q96SW2 CRBN_HUMAN cereblon NA NA negative regulation of ion transmembrane transport (GO:0034766)|negative regulation of protein homooligomerization (GO:0032463)|positive regulation of protein homodimerization activity (GO:0090073)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567) Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634) ATP-dependent peptidase activity (GO:0004176) endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 11 Epithelial(13;0.00244)|OV - Ovarian serous cystadenocarcinoma(96;0.00617)|all cancers(10;0.0079) Lenalidomide(DB00480)|Pomalidomide(DB08910)|Thalidomide(DB01041) GTACAGATACGCTGTCCCATA 0.323 NA G||| 25 0.00499201 0.0008 0.0 5008 , , NA 18408 0.0218 NA 0.001 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC017419 CCDS2562.1, CCDS54547.1 3p26.3 2014-05-27 ENSG00000113851 ENSG00000113851 51185 30185 protein-coding gene gene with protein product 609262 mental retardation, non-syndromic, autosomal recessive, 2A MRT2A NA 15557513 Standard NM_016302 NM_016302 NA Approved MRT2 uc003bpq.3 Q96SW2 OTTHUMG00000090261 ENST00000231948.4:c.*406C>T chr3.hg19:g.3192143G>A NA B2R6H4|C9IZA9|C9JAH6|Q6AI62|Q6NVZ0|Q9UHW4 hg19 CCDS2562.1 0.02 10.806177 TACxCTG COVERED NOVEL CRBN-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000206579.3 2 11.668704 KEEP 0 1 26 48 1634 GG 1 1 0 - 20 60 694 0 0 48.146065 246 60 8738 381 ENST00000231948.4 0.075188 1 CRBN 51185 __UNKNOWN__ __UNKNOWN__ 3 3192669 3192669 __UNKNOWN__ Silent SNP C C T rs116847323 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:3192669C>T ENST00000231948.4 - 11 1231 c.1209G>A c.(1207-1209)acG>acA p.T403T CRBN_ENST00000432408.2_Silent_p.T402T NM_016302.3 NP_057386.2 Q96SW2 CRBN_HUMAN cereblon 403 Thalidomide-binding. NA negative regulation of ion transmembrane transport (GO:0034766)|negative regulation of protein homooligomerization (GO:0032463)|positive regulation of protein homodimerization activity (GO:0090073)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567) Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634) ATP-dependent peptidase activity (GO:0004176) endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 11 Epithelial(13;0.00244)|OV - Ovarian serous cystadenocarcinoma(96;0.00617)|all cancers(10;0.0079) Lenalidomide(DB00480)|Pomalidomide(DB08910)|Thalidomide(DB01041) TTTTGGTGGCCGTAAACTTCC 0.433 NA C||| 34 0.00678914 0.0076 0.0 5008 , , NA 18039 0.0218 NA 0.001 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 C , 18,4388 25.3+/-52.1 0,18,2185 114 92 99 1206,1209 1.6 1 3 dbSNP_132 99 0,8600 0,0,4300 no coding-synonymous,coding-synonymous CRBN NM_001173482.1,NM_016302.3 , 0,18,6485 TT,TC,CC 0.0,0.4085,0.1384 , 402/442,403/443 3192669 18,12988 2203 4300 6503 SO:0001819 synonymous_variant BC017419 CCDS2562.1, CCDS54547.1 3p26.3 2014-05-27 ENSG00000113851 ENSG00000113851 51185 30185 protein-coding gene gene with protein product 609262 mental retardation, non-syndromic, autosomal recessive, 2A MRT2A NA 15557513 Standard NM_016302 NM_016302 NA Approved MRT2 uc003bpq.3 Q96SW2 OTTHUMG00000090261 ENST00000231948.4:c.1209G>A chr3.hg19:g.3192669C>T NA B2R6H4|C9IZA9|C9JAH6|Q6AI62|Q6NVZ0|Q9UHW4 hg19 CCDS2562.1 0.02 10.618702 GGCxGTA COVERED 19 0.0086996336996337 1 0.0020325203252032522 0 0.0 17 0.02972027972027972 1 0.0013192612137203166 C 9.195 1.026964 0.19512 0.004085 0.0 ENSG00000113851 ENST00000424814 . . . 5.62 1.62 0.23740 . . . . . T 0.22166 0.0534 . . . 0.80722 D 1 . . . . . . T 0.08126 -1.0737 4 . . . -21.7091 3.7563 0.08586 0.3404:0.2039:0.0:0.4558 . . . . Q 355 . . R - 2 0 CRBN 3167669 0.441000 0.25626 1.000000 0.80357 0.978000 0.69477 -0.397000 0.07269 0.080000 0.16959 -1.311000 0.01308 CGG NOVEL CRBN-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000206579.3 1 19.260918 KEEP 0 0 0 64 2189 CC 1 1 0 - 13 60 472 0 0 30.672834 262 60 9245 425 ENST00000231948.4 0.047273 1 ITPR1 3708 __UNKNOWN__ __UNKNOWN__ 3 4856180 4856180 __UNKNOWN__ Silent SNP T T C rs711631 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:4856180T>C ENST00000443694.2 + 55 7590 c.7590T>C c.(7588-7590)acT>acC p.T2530T AC018816.3_ENST00000441894.1_Intron|ITPR1_ENST00000456211.2_Silent_p.T2482T|AC018816.3_ENST00000489771.1_Intron|ITPR1_ENST00000463980.1_3'UTR|AC018816.3_ENST00000449914.1_Intron|ITPR1_ENST00000544951.1_Silent_p.T508T|ITPR1_ENST00000354582.6_Silent_p.T2530T|ITPR1_ENST00000357086.4_Silent_p.T2497T|ITPR1_ENST00000302640.8_Silent_p.T2530T|ITPR1_ENST00000423119.2_Silent_p.T2497T Q14643 ITPR1_HUMAN inositol 1,4,5-trisphosphate receptor, type 1 2545 Interaction with ERP44. {ECO:0000250}. NA activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882) calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529) calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091) NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2) 106 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) Caffeine(DB00201) GCATTGTCACTGTGCTGAGTC 0.542 NA T||| 3961 0.790935 0.6778 0.8213 5008 , , NA 16528 0.9603 NA 0.836 False NA ,,, NA NA NA 2504 0.7014 NA NA NA NA 0 T ,, 3013,1133 1103,807,163 86 91 89 7491,7590,7446 -9.9 0.1 3 dbSNP_86 89 7080,1350 2974,1132,109 no coding-synonymous,coding-synonymous,coding-synonymous ITPR1 NM_001099952.2,NM_001168272.1,NM_002222.5 ,, 4077,1939,272 CC,CT,TT 16.0142,27.3275,19.744 ,, 2497/2711,2530/2744,2482/2696 4856180 10093,2483 2073 4215 6288 SO:0001819 synonymous_variant D26070 CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1 3p26.1 2014-06-12 2011-04-28 ENSG00000150995 3708 Ion channels / Inositol triphosphate receptors 6180 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 94 147265 spinocerebellar ataxia 15, spinocerebellar ataxia 16, spinocerebellar ataxia 29 SCA15, SCA16, SCA29 NA 7945203, 7500840, 17590087, 17932120, 22986007 Standard NM_002222 NM_001099952 NA Approved Insp3r1, IP3R1, ACV, PPP1R94 uc003bqc.3 Q14643 ENST00000443694.2:c.7590T>C chr3.hg19:g.4856180T>C NA E7EPX7|E9PDE9|Q14660|Q99897 hg19 CCDS54551.1 0.02 10.404774 CACxGTG COVERED NOVEL ITPR1-004 KNOWN non_canonical_conserved|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000337982.3 1 11.422717 KEEP 0 1 31 49 1514 TT 1 1 0 + 23 60 792 0 0 55.326334 266 60 9765 382 ENST00000443694.2 0.079585 1 ITPR1 3708 __UNKNOWN__ __UNKNOWN__ 3 4856234 4856234 __UNKNOWN__ Silent SNP G G A rs901854 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:4856234G>A ENST00000443694.2 + 55 7644 c.7644G>A c.(7642-7644)aaG>aaA p.K2548K AC018816.3_ENST00000441894.1_Intron|ITPR1_ENST00000456211.2_Silent_p.K2500K|AC018816.3_ENST00000489771.1_Intron|ITPR1_ENST00000463980.1_3'UTR|AC018816.3_ENST00000449914.1_Intron|ITPR1_ENST00000544951.1_Silent_p.K526K|ITPR1_ENST00000354582.6_Silent_p.K2548K|ITPR1_ENST00000357086.4_Silent_p.K2515K|ITPR1_ENST00000302640.8_Silent_p.K2548K|ITPR1_ENST00000423119.2_Silent_p.K2515K Q14643 ITPR1_HUMAN inositol 1,4,5-trisphosphate receptor, type 1 2563 NA activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882) calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529) calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091) NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2) 106 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) Caffeine(DB00201) TACTCAGGAAGCCGTCCAAAG 0.567 NA G||| 2942 0.58746 0.5295 0.5346 5008 , , NA 14907 0.7202 NA 0.5885 False NA ,,, NA NA NA 2504 0.5654 NA NA NA NA 0 G ,, 2310,1668 686,938,365 54 57 56 7545,7644,7500 3.1 1 3 dbSNP_86 56 4999,3297 1517,1965,666 no coding-synonymous,coding-synonymous,coding-synonymous ITPR1 NM_001099952.2,NM_001168272.1,NM_002222.5 ,, 2203,2903,1031 AA,AG,GG 39.742,41.9306,40.4514 ,, 2515/2711,2548/2744,2500/2696 4856234 7309,4965 1989 4148 6137 SO:0001819 synonymous_variant D26070 CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1 3p26.1 2014-06-12 2011-04-28 ENSG00000150995 3708 Ion channels / Inositol triphosphate receptors 6180 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 94 147265 spinocerebellar ataxia 15, spinocerebellar ataxia 16, spinocerebellar ataxia 29 SCA15, SCA16, SCA29 NA 7945203, 7500840, 17590087, 17932120, 22986007 Standard NM_002222 NM_001099952 NA Approved Insp3r1, IP3R1, ACV, PPP1R94 uc003bqc.3 Q14643 ENST00000443694.2:c.7644G>A chr3.hg19:g.4856234G>A NA E7EPX7|E9PDE9|Q14660|Q99897 hg19 CCDS54551.1 0.02 4.085961 GAAxCCG COVERED NOVEL ITPR1-004 KNOWN non_canonical_conserved|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000337982.3 1 6.019555 KEEP 0 0 0 20 704 GG 0.999863 0.999863 0 + 17 60 598 0 0 45.104034 129 60 4764 188 ENST00000443694.2 0.116438 1 EDEM1 9695 __UNKNOWN__ __UNKNOWN__ 3 5248839 5248839 __UNKNOWN__ Splice_Site SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:5248839C>T ENST00000256497.4 + 7 1352 c.1219C>T c.(1219-1221)Cgg>Tgg p.R407W EDEM1_ENST00000445686.1_Splice_Site_p.R212W NM_014674.2 NP_055489.1 Q92611 EDEM1_HUMAN ER degradation enhancer, mannosidase alpha-like 1 407 NA activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279) endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176) calcium ion binding (GO:0005509)|misfolded protein binding (GO:0051787) NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682) GGTTTGCAGGCGGGAAGCCTG 0.493 NA NA NA NA NA NA NA NA NA NA NA 0 116 114 115 NA NA 3 NA 5248839 2203 4300 6503 SO:0001630 splice_region_variant D86967 CCDS33686.1 3p26.1 2008-02-05 ENSG00000134109 ENSG00000134109 9695 18967 protein-coding gene gene with protein product 607673 NA 12610306 Standard NM_014674 NM_014674 NA Approved KIAA0212, EDEM uc003bqi.3 Q92611 OTTHUMG00000154896 ENST00000256497.4:c.1218-1C>T chr3.hg19:g.5248839C>T NA A8K9C8|B4DXP3 hg19 CCDS33686.1 0.02 6.08195 AGGxGGG COVERED . . . . . . . . . . C 20.8 4.046555 0.75846 . . ENSG00000134109 ENST00000419550;ENST00000256497;ENST00000445686 T;T 0.72725 -0.68;-0.68 5.91 5.91 0.95273 . 0.000000 0.85682 D 0.000000 D 0.85230 0.5649 M 0.84156 2.68 0.80722 D 1 D;D;P 0.89917 1.0;1.0;0.866 D;D;B 0.87578 0.998;0.987;0.363 D 0.86530 0.1821 10 0.72032 D 0.01 -33.6758 15.8542 0.78965 0.1361:0.8639:0.0:0.0 . 212;407;185 B4DXP3;Q92611;B4DPV5 .;EDEM1_HUMAN;. W 185;407;212 ENSP00000256497:R407W;ENSP00000394099:R212W ENSP00000256497:R407W R + 1 2 EDEM1 5223839 0.982000 0.34865 0.976000 0.42696 0.953000 0.61014 2.630000 0.46494 2.793000 0.96121 0.655000 0.94253 CGG NOVEL EDEM1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000337566.2 0 6.621132 KEEP 0 0 0 22 773 CC 0.999879 0.999879 0 Missense_Mutation + 11 60 381 0 0 25.716102 157 60 5734 222 ENST00000256497.4 0.065476 1 EDEM1 9695 __UNKNOWN__ __UNKNOWN__ 3 5258622 5258622 __UNKNOWN__ 3'UTR SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:5258622G>A ENST00000256497.4 + 0 3126 NM_014674.2 NP_055489.1 Q92611 EDEM1_HUMAN ER degradation enhancer, mannosidase alpha-like 1 NA NA activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279) endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176) calcium ion binding (GO:0005509)|misfolded protein binding (GO:0051787) NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682) TCTGTGTCTAGTGCCAATTAG 0.373 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D86967 CCDS33686.1 3p26.1 2008-02-05 ENSG00000134109 ENSG00000134109 9695 18967 protein-coding gene gene with protein product 607673 NA 12610306 Standard NM_014674 NM_014674 NA Approved KIAA0212, EDEM uc003bqi.3 Q92611 OTTHUMG00000154896 ENST00000256497.4:c.*1019G>A chr3.hg19:g.5258622G>A NA A8K9C8|B4DXP3 hg19 CCDS33686.1 0.02 8.448334 CTAxTGC COVERED NOVEL EDEM1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000337566.2 3 11.136569 KEEP 0 0 0 37 1328 GG 1 1 0 + 8 60 293 0 0 18.247269 209 60 7784 298 ENST00000256497.4 0.036866 1 LMCD1-AS1 100288428 __UNKNOWN__ __UNKNOWN__ 3 8299657 8299657 __UNKNOWN__ RNA SNP G G C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:8299657G>C ENST00000420095.1 - 0 571 LMCD1-AS1_ENST00000446281.1_RNA|LMCD1-AS1_ENST00000452802.1_RNA NR_033378.1 LMCD1 antisense RNA 1 (head to head) NA NA NA aaggaaggaaggaaggaagga 0.393 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA 3p26.1 2012-11-05 ENSG00000227110 ENSG00000227110 100288428 Long non-coding RNAs 44477 non-coding RNA RNA, long non-coding NA Standard NR_033378 NR_033378 NA Approved uc021wso.1 OTTHUMG00000154968 ENST00000420095.1: chr3.hg19:g.8299657G>C NA hg19 0.02 2.217326 GAAxGAA COVERED NOVEL LMCD1-AS1-001 KNOWN basic antisense NA antisense OTTHUMT00000337845.1 5 4.752671 KEEP 1 1 38 29 1047 GG 0.999997 0.9937 0 - 4 60 142 0 0 9.641465 59 60 2245 141 ENST00000420095.1 0.063492 0.993703 THUMPD3 25917 __UNKNOWN__ __UNKNOWN__ 3 9416474 9416474 __UNKNOWN__ Intron SNP A A G rs2596920 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:9416474A>G ENST00000345094.3 + 5 1272 SETD5-AS1_ENST00000468186.1_RNA|THUMPD3_ENST00000452837.2_Intron|THUMPD3_ENST00000515662.2_Intron NM_001114092.1|NM_015453.2 NP_001107564.1|NP_056268.2 Q9BV44 THUM3_HUMAN THUMP domain containing 3 NA NA cytoplasm (GO:0005737)|nucleolus (GO:0005730) methyltransferase activity (GO:0008168)|RNA binding (GO:0003723) NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 19 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.101) CTAATGATCTATTTCTTTCCC 0.333 NA A||| 758 0.151358 0.1868 0.0749 5008 , , NA 20670 0.3472 NA 0.0527 False NA ,,, NA NA NA 2504 0.0573 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL117483 CCDS2573.1 3p25.3 2004-06-04 ENSG00000134077 ENSG00000134077 25917 24493 protein-coding gene gene with protein product NA 12477932 Standard NM_015453 NM_015453 NA Approved DKFZP434F091 uc003brn.4 Q9BV44 OTTHUMG00000097031 ENST00000345094.3:c.938+144A>G chr3.hg19:g.9416474A>G NA Q9H8V6|Q9NVC1|Q9UFS3 hg19 CCDS2573.1 0.02 4.281343 TCTxTTT COVERED NOVEL THUMPD3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000214127.1 0 3.307134 KEEP 0 0 0 11 302 AA 0.993072 0.993046 0 + 7 60 254 0 0 17.666006 95 60 3322 117 ENST00000345094.3 0.068627 0.999973 THUMPD3 25917 __UNKNOWN__ __UNKNOWN__ 3 9426596 9426596 __UNKNOWN__ 3'UTR SNP G G A rs72624413 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:9426596G>A ENST00000345094.3 + 0 2082 SETD5-AS1_ENST00000468186.1_RNA|THUMPD3_ENST00000452837.2_3'UTR NM_001114092.1|NM_015453.2 NP_001107564.1|NP_056268.2 Q9BV44 THUM3_HUMAN THUMP domain containing 3 NA NA cytoplasm (GO:0005737)|nucleolus (GO:0005730) methyltransferase activity (GO:0008168)|RNA binding (GO:0003723) NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 19 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.101) ttaggaagccgaagtgtgcag 0.478 NA G||| 447 0.0892572 0.0045 0.0375 5008 , , NA 19086 0.3383 NA 0.0258 False NA ,,, NA NA NA 2504 0.0491 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL117483 CCDS2573.1 3p25.3 2004-06-04 ENSG00000134077 ENSG00000134077 25917 24493 protein-coding gene gene with protein product NA 12477932 Standard NM_015453 NM_015453 NA Approved DKFZP434F091 uc003brn.4 Q9BV44 OTTHUMG00000097031 ENST00000345094.3:c.*224G>A chr3.hg19:g.9426596G>A NA Q9H8V6|Q9NVC1|Q9UFS3 hg19 CCDS2573.1 0.02 7.715572 GCCxAAG COVERED NOVEL THUMPD3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000214127.1 4 14.745546 KEEP 0 0 0 49 1619 GG 1 1 0 + 11 60 375 0 0 23.771326 210 60 7767 294 ENST00000345094.3 0.049774 1 TTLL3 26140 __UNKNOWN__ __UNKNOWN__ 3 9896259 9896259 __UNKNOWN__ Missense_Mutation SNP T T A rs4686378 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:9896259T>A ENST00000455274.1 + 5 2285 c.935T>A c.(934-936)aTg>aAg p.M312K Q9Y4R7 TTLL3_HUMAN tubulin tyrosine ligase-like family, member 3 0 TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}. NA axoneme assembly (GO:0035082)|cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094) axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630) protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1) 26 Medulloblastoma(99;0.227) gctcctaacatgcaggtgtca 0.463 NA T||| 774 0.154553 0.1566 0.2406 5008 , , NA 20262 0.2897 NA 0.0706 False NA ,,, NA NA NA 2504 0.0378 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense CCDS43048.1, CCDS43048.2 3p25.3 2013-02-14 ENSG00000214021 ENSG00000214021 26140 Tubulin tyrosine ligase-like family 24483 protein-coding gene gene with protein product NA 11054573 Standard NM_001025930.2 NR_037162 NA Approved DKFZP434B103, HOTTL uc003btg.4 Q9Y4R7 OTTHUMG00000128439 ENST00000455274.1:c.935T>A chr3.hg19:g.9896259T>A ENSP00000409632:p.Met312Lys NA Q4KMS8|Q6AWA3|Q6ZU95|Q8NDN8|Q96GG8|Q9H876|Q9UI99 hg19 0.02 14.62494 ACAxGCA COVERED 366 0.16758241758241757 85 0.17276422764227642 70 0.19337016574585636 162 0.28321678321678323 49 0.06464379947229551 T 8.947 0.967146 0.18659 . . ENSG00000214021 ENST00000455274 T 0.05025 3.51 . . . . . . . . T 0.00012 0.0000 . . . 0.46631 P 8.660000000000334E-4 B 0.06786 0.001 B 0.09377 0.004 T 0.46428 -0.9192 5 0.05959 T 0.93 . . . . rs4686378;rs60219176;rs4686378 312 C9JSD3 . K 312 ENSP00000409632:M312K ENSP00000409632:M312K M + 2 0 TTLL3 9871259 0.507000 0.26146 0.418000 0.26571 0.421000 0.31385 0.118000 0.15605 0.103000 0.17682 0.102000 0.15555 ATG NOVEL TTLL3-016 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000308977.2 3 30.387357 KEEP 0 0 0 101 3100 TT 1 1 0 + 17 60 615 0 0 39.121987 381 60 14023 614 ENST00000455274.1 0.042714 1 CIDEC 63924 __UNKNOWN__ __UNKNOWN__ 3 9908749 9908749 __UNKNOWN__ 3'UTR SNP G G C rs1053239 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:9908749G>C ENST00000430427.1 - 0 840 CIDEC_ENST00000336832.2_3'UTR|CIDEC_ENST00000423850.1_3'UTR|CIDEC_ENST00000455015.1_3'UTR|CIDEC_ENST00000383817.1_3'UTR|CIDEC_ENST00000443115.1_3'UTR NM_001199551.1 NP_001186480.1 Q96AQ7 CIDEC_HUMAN cell death-inducing DFFA-like effector c NA NA apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|lipid particle organization (GO:0034389)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|lipid particle (GO:0005811)|nucleus (GO:0005634) breast(2)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|skin(1) 8 Medulloblastoma(99;0.227) AGGCTTGTGGGCACTACCAGT 0.597 NA G||| 1097 0.21905 0.0061 0.1686 5008 , , NA 19385 0.5933 NA 0.1541 False NA ,,, NA NA NA 2504 0.2239 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS2587.1, CCDS56239.1, CCDS74897.1 3p25 2004-07-26 ENSG00000187288 ENSG00000187288 63924 24229 protein-coding gene gene with protein product 612120 NA 12429024 Standard NM_022094 NM_001199623 NA Approved CIDE-3, FLJ20871, Fsp27 uc021wsw.1 Q96AQ7 OTTHUMG00000128522 ENST00000430427.1:c.*69C>G chr3.hg19:g.9908749G>C NA C9JMN7|Q67DW9|Q9GZY9 hg19 CCDS56239.1 0.02 14.15123 TGGxCAC COVERED NOVEL CIDEC-006 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000339130.1 5 25.583502 KEEP 0 0 0 85 3052 GG 1 1 0 - 17 60 617 0 0 41.372645 287 60 10566 491 ENST00000430427.1 0.055921 1 ATP2B2 491 __UNKNOWN__ __UNKNOWN__ 3 10368948 10368948 __UNKNOWN__ 3'UTR SNP G G A rs3209637 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:10368948G>A ENST00000397077.1 - 0 5722 ATP2B2_ENST00000352432.4_3'UTR|ATP2B2_ENST00000343816.4_3'UTR|ATP2B2_ENST00000383800.4_3'UTR|ATP2B2_ENST00000360273.2_3'UTR Q01814 AT2B2_HUMAN ATPase, Ca++ transporting, plasma membrane 2 NA NA auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810) apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 ATACTGTAGGGTTTCAGAATG 0.378 NA G||| 1566 0.3127 0.1362 0.2853 5008 , , NA 19314 0.5526 NA 0.2187 False NA ,,, NA NA NA 2504 0.4202 NA NA NA Ovarian(125;1619 1709 15675 19819 38835) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X63575 CCDS2601.1, CCDS33701.1 3p25.3 2010-04-20 2001-12-04 ENSG00000157087 ENSG00000157087 491 3.6.3.8 ATPases / P-type 815 protein-coding gene gene with protein product plasma membrane Ca2+ pump 2, plasma membrane calcium-transporting ATPase 2 108733 NA 1313367 Standard NM_001683 NM_001001331 NA Approved PMCA2 uc003bvt.3 Q01814 OTTHUMG00000128679 ENST00000397077.1:c.*1550C>T chr3.hg19:g.10368948G>A NA O00766|Q12994|Q16818 hg19 CCDS2601.1 0.02 8.033747 AGGxTTT COVERED NOVEL ATP2B2-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000276089.2 0 8.728365 KEEP 0 0 0 29 1030 GG 0.999997 0.999997 0 - 12 60 422 0 0 27.739185 207 60 7499 288 ENST00000397077.1 0.054795 1 ATP2B2 491 __UNKNOWN__ __UNKNOWN__ 3 10396754 10396754 __UNKNOWN__ Intron SNP A A G rs703907 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:10396754A>G ENST00000397077.1 - 13 2577 ATP2B2_ENST00000352432.4_Intron|ATP2B2_ENST00000343816.4_Intron|ATP2B2_ENST00000383800.4_Intron|ATP2B2_ENST00000360273.2_Intron Q01814 AT2B2_HUMAN ATPase, Ca++ transporting, plasma membrane 2 NA NA auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810) apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 GGCAGGAATGACCTACCTAAA 0.542 NA A||| 879 0.175519 0.0121 0.0994 5008 , , NA 19071 0.4167 NA 0.161 False NA ,,, NA NA NA 2504 0.2168 NA NA NA Ovarian(125;1619 1709 15675 19819 38835) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X63575 CCDS2601.1, CCDS33701.1 3p25.3 2010-04-20 2001-12-04 ENSG00000157087 ENSG00000157087 491 3.6.3.8 ATPases / P-type 815 protein-coding gene gene with protein product plasma membrane Ca2+ pump 2, plasma membrane calcium-transporting ATPase 2 108733 NA 1313367 Standard NM_001683 NM_001001331 NA Approved PMCA2 uc003bvt.3 Q01814 OTTHUMG00000128679 ENST00000397077.1:c.2001+3620T>C chr3.hg19:g.10396754A>G NA O00766|Q12994|Q16818 hg19 CCDS2601.1 0.02 6.12366 ATGxCCT COVERED NOVEL ATP2B2-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000276089.2 1 7.822031 KEEP 0 0 0 26 799 AA 0.999957 0.999957 0 - 7 60 246 0 0 14.983906 180 60 6362 279 ENST00000397077.1 0.037433 1 ATP2B2 491 __UNKNOWN__ __UNKNOWN__ 3 10413601 10413601 __UNKNOWN__ Silent SNP G G A rs2289273 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:10413601G>A ENST00000397077.1 - 11 1991 c.1416C>T c.(1414-1416)ggC>ggT p.G472G ATP2B2_ENST00000352432.4_Silent_p.G517G|ATP2B2_ENST00000343816.4_Silent_p.G503G|ATP2B2_ENST00000383800.4_Silent_p.G472G|ATP2B2_ENST00000360273.2_Silent_p.G517G Q01814 AT2B2_HUMAN ATPase, Ca++ transporting, plasma membrane 2 517 NA auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810) apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022) p.G472G(1) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 AGTGGACGTCGCCGACATAGG 0.562 NA G||| 705 0.140775 0.0053 0.0447 5008 , , NA 19274 0.3234 NA 0.1421 False NA ,,, NA NA NA 2504 0.2025 NA NA NA Ovarian(125;1619 1709 15675 19819 38835) NA 1 Substitution - coding silent(1) stomach(1) G , 132,4274 95.3+/-134.0 2,128,2073 199 175 183 1551,1416 -3.8 0.7 3 dbSNP_100 183 1188,7412 241.8+/-272.0 85,1018,3197 no coding-synonymous,coding-synonymous ATP2B2 NM_001001331.2,NM_001683.3 , 87,1146,5270 AA,AG,GG 13.814,2.9959,10.1492 , 517/1244,472/1199 10413601 1320,11686 2203 4300 6503 SO:0001819 synonymous_variant X63575 CCDS2601.1, CCDS33701.1 3p25.3 2010-04-20 2001-12-04 ENSG00000157087 ENSG00000157087 491 3.6.3.8 ATPases / P-type 815 protein-coding gene gene with protein product plasma membrane Ca2+ pump 2, plasma membrane calcium-transporting ATPase 2 108733 NA 1313367 Standard NM_001683 NM_001001331 NA Approved PMCA2 uc003bvt.3 Q01814 OTTHUMG00000128679 ENST00000397077.1:c.1416C>T chr3.hg19:g.10413601G>A NA O00766|Q12994|Q16818 hg19 CCDS2601.1 0.02 13.701428 GTCxCCG COVERED NOVEL ATP2B2-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000276089.2 4 9.518551 KEEP 0 1 32 43 1446 GG 1 1 0 - 19 60 693 0 0 47.033239 303 60 10512 477 ENST00000397077.1 0.059006 1 ATP2B2 491 __UNKNOWN__ __UNKNOWN__ 3 10413715 10413715 __UNKNOWN__ Silent SNP G G A rs2289274 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:10413715G>A ENST00000397077.1 - 11 1877 c.1302C>T c.(1300-1302)aaC>aaT p.N434N ATP2B2_ENST00000352432.4_Silent_p.N479N|ATP2B2_ENST00000343816.4_Silent_p.N465N|ATP2B2_ENST00000383800.4_Silent_p.N434N|ATP2B2_ENST00000360273.2_Silent_p.N479N Q01814 AT2B2_HUMAN ATPase, Ca++ transporting, plasma membrane 2 479 NA auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810) apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022) p.N434N(1) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 GGCGTACCAGGTTGTTGTCCT 0.582 NA G||| 1387 0.276957 0.1324 0.3256 5008 , , NA 19783 0.3323 NA 0.3002 False NA ,,, NA NA NA 2504 0.3569 NA NA NA Ovarian(125;1619 1709 15675 19819 38835) NA 1 Substitution - coding silent(1) stomach(1) G , 698,3708 291.8+/-281.7 58,582,1563 141 121 128 1437,1302 3.8 1 3 dbSNP_100 128 2656,5944 427.2+/-355.5 432,1792,2076 no coding-synonymous,coding-synonymous ATP2B2 NM_001001331.2,NM_001683.3 , 490,2374,3639 AA,AG,GG 30.8837,15.842,25.7881 , 479/1244,434/1199 10413715 3354,9652 2203 4300 6503 SO:0001819 synonymous_variant X63575 CCDS2601.1, CCDS33701.1 3p25.3 2010-04-20 2001-12-04 ENSG00000157087 ENSG00000157087 491 3.6.3.8 ATPases / P-type 815 protein-coding gene gene with protein product plasma membrane Ca2+ pump 2, plasma membrane calcium-transporting ATPase 2 108733 NA 1313367 Standard NM_001683 NM_001001331 NA Approved PMCA2 uc003bvt.3 Q01814 OTTHUMG00000128679 ENST00000397077.1:c.1302C>T chr3.hg19:g.10413715G>A NA O00766|Q12994|Q16818 hg19 CCDS2601.1 0.02 8.956928 CAGxTTG COVERED NOVEL ATP2B2-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000276089.2 1 6.619795 KEEP 0 0 0 22 762 GG 0.999879 0.999879 0 - 10 60 367 0 0 23.896928 206 60 7579 266 ENST00000397077.1 0.046296 1 SLC6A1 6529 __UNKNOWN__ __UNKNOWN__ 3 11060430 11060430 __UNKNOWN__ Intron SNP G G C rs3817585 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:11060430G>C ENST00000287766.4 + 5 892 SLC6A1-AS1_ENST00000414969.2_RNA|SLC6A1_ENST00000536032.1_Intron NM_003042.3 NP_003033.3 P30531 SC6A1_HUMAN solute carrier family 6 (neurotransmitter transporter), member 1 NA NA gamma-aminobutyric acid import (GO:0051939)|learning (GO:0007612)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neurotransmitter secretion (GO:0007269)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|protein homooligomerization (GO:0051260)|response to calcium ion (GO:0051592)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to lead ion (GO:0010288)|response to purine-containing compound (GO:0014074)|response to sucrose (GO:0009744)|response to toxic substance (GO:0009636)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810) axon (GO:0030424)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886) gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328) breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 26 Ovarian(110;0.0392) OV - Ovarian serous cystadenocarcinoma(96;0.00099) Clobazam(DB00349)|Tiagabine(DB00906) GCCACACCCAGAGCCCACCCT 0.577 NA G||| 378 0.0754792 0.003 0.0476 5008 , , NA 18420 0.1091 NA 0.0984 False NA ,,, NA NA NA 2504 0.135 NA NA NA NA 0 G 104,4302 79.9+/-118.3 1,102,2100 45 41 42 1.3 0 3 dbSNP_107 42 913,7685 188.6+/-235.5 48,817,3434 no intron SLC6A1 NM_003042.3 49,919,5534 CC,CG,GG 10.6187,2.3604,7.8207 11060430 1017,11987 2203 4299 6502 SO:0001627 intron_variant CCDS2603.1 3p25.3 2013-07-19 2013-07-19 ENSG00000157103 ENSG00000157103 6529 Solute carriers 11042 protein-coding gene gene with protein product GABA transporter 1 137165 solute carrier family 6 (neurotransmitter transporter, GABA), member 1 NA 8530094 Standard NM_003042 NM_003042 NA Approved GAT1, GABATR, GABATHG uc010hdq.3 P30531 OTTHUMG00000044208 ENST00000287766.4:c.471+46G>C chr3.hg19:g.11060430G>C NA Q8N4K8 hg19 CCDS2603.1 0.02 5.174363 CCAxAGC COVERED NOVEL SLC6A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000102767.2 0 2.407729 KEEP 0 0 0 8 272 GG 0.99257 0.992566 0 + 60 60 2283 0 0 222.676624 54 60 2038 137 ENST00000287766.4 0.526316 0.999996 SLC6A1 6529 __UNKNOWN__ __UNKNOWN__ 3 11076336 11076336 __UNKNOWN__ Silent SNP C C T rs2272401 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:11076336C>T ENST00000287766.4 + 15 2068 c.1647C>T c.(1645-1647)ccC>ccT p.P549P SLC6A1_ENST00000536032.1_Silent_p.P371P NM_003042.3 NP_003033.3 P30531 SC6A1_HUMAN solute carrier family 6 (neurotransmitter transporter), member 1 549 NA gamma-aminobutyric acid import (GO:0051939)|learning (GO:0007612)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neurotransmitter secretion (GO:0007269)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|protein homooligomerization (GO:0051260)|response to calcium ion (GO:0051592)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to lead ion (GO:0010288)|response to purine-containing compound (GO:0014074)|response to sucrose (GO:0009744)|response to toxic substance (GO:0009636)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810) axon (GO:0030424)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886) gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328) breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 26 Ovarian(110;0.0392) OV - Ovarian serous cystadenocarcinoma(96;0.00099) Clobazam(DB00349)|Tiagabine(DB00906) TCCTCATCCCCGGGTACATGG 0.567 NA C||| 47 0.00938498 0.0 0.0 5008 , , NA 17722 0.0417 NA 0.001 False NA ,,, NA NA NA 2504 0.0041 NA NA NA NA 0 C 0,4406 0,0,2203 164 137 146 1647 -7 0.4 3 dbSNP_100 146 1,8599 1.2+/-3.3 0,1,4299 no coding-synonymous SLC6A1 NM_003042.3 0,1,6502 TT,TC,CC 0.0116,0.0,0.0077 549/600 11076336 1,13005 2203 4300 6503 SO:0001819 synonymous_variant CCDS2603.1 3p25.3 2013-07-19 2013-07-19 ENSG00000157103 ENSG00000157103 6529 Solute carriers 11042 protein-coding gene gene with protein product GABA transporter 1 137165 solute carrier family 6 (neurotransmitter transporter, GABA), member 1 NA 8530094 Standard NM_003042 NM_003042 NA Approved GAT1, GABATR, GABATHG uc010hdq.3 P30531 OTTHUMG00000044208 ENST00000287766.4:c.1647C>T chr3.hg19:g.11076336C>T NA Q8N4K8 hg19 CCDS2603.1 0.02 22.687651 CCCxGGG COVERED NOVEL SLC6A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000102767.2 2 15.344557 KEEP 0 0 0 51 1734 CC 1 1 0 + 16 60 606 0 0 36.894107 529 60 18973 764 ENST00000287766.4 0.029358 1 SLC6A1 6529 __UNKNOWN__ __UNKNOWN__ 3 11080169 11080169 __UNKNOWN__ 3'UTR SNP A A G rs1062246 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:11080169A>G ENST00000287766.4 + 0 3738 NM_003042.3 NP_003033.3 P30531 SC6A1_HUMAN solute carrier family 6 (neurotransmitter transporter), member 1 NA NA gamma-aminobutyric acid import (GO:0051939)|learning (GO:0007612)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neurotransmitter secretion (GO:0007269)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|protein homooligomerization (GO:0051260)|response to calcium ion (GO:0051592)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to lead ion (GO:0010288)|response to purine-containing compound (GO:0014074)|response to sucrose (GO:0009744)|response to toxic substance (GO:0009636)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810) axon (GO:0030424)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886) gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328) breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 26 Ovarian(110;0.0392) OV - Ovarian serous cystadenocarcinoma(96;0.00099) Clobazam(DB00349)|Tiagabine(DB00906) TCATCCTCACATGTGGCACGT 0.383 NA G||| 2564 0.511981 0.6808 0.4164 5008 , , NA 22274 0.5367 NA 0.3688 False NA ,,, NA NA NA 2504 0.4734 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS2603.1 3p25.3 2013-07-19 2013-07-19 ENSG00000157103 ENSG00000157103 6529 Solute carriers 11042 protein-coding gene gene with protein product GABA transporter 1 137165 solute carrier family 6 (neurotransmitter transporter, GABA), member 1 NA 8530094 Standard NM_003042 NM_003042 NA Approved GAT1, GABATR, GABATHG uc010hdq.3 P30531 OTTHUMG00000044208 ENST00000287766.4:c.*1517A>G chr3.hg19:g.11080169A>G NA Q8N4K8 hg19 CCDS2603.1 0.02 9.845278 CACxTGT COVERED NOVEL SLC6A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000102767.2 0 2.43865 KEEP 0 1 28 18 530 AA 0.99986 0.99986 0 + 11 60 353 0 0 21.163901 251 60 9203 330 ENST00000287766.4 0.041985 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 11924678 11924678 __UNKNOWN__ IGR SNP C C G rs11919713 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:11924678C>G NA NA TAMM41 (36285 upstream) : RN7SL147P (69585 downstream) NA NA NA TTCAAGTCTTCTGTTGCAGTG 0.448 NA C||| 1198 0.239217 0.2965 0.1859 5008 , , NA 17999 0.2778 NA 0.2913 False NA ,,, NA NA NA 2504 0.1063 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.11924678C>G NA hg19 0.02 4.626061 CTTxTGT COVERED NOVEL 0 0 6.922967 KEEP 9 0 0 23 848 CC 0.999869 0.999869 0 8 54 286 0 0 19.34609 123 62 4828 221 0.061069 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 11933025 11933025 __UNKNOWN__ IGR SNP C C T rs11714956 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:11933025C>T NA NA TAMM41 (44632 upstream) : RN7SL147P (61238 downstream) NA NA NA TGTGACCCTACGCCATCTCAT 0.393 NA C||| 1212 0.242013 0.3419 0.1772 5008 , , NA 16491 0.2778 NA 0.2565 False NA ,,, NA NA NA 2504 0.1012 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.11933025C>T NA hg19 0.02 4.614239 CTAxGCC COVERED NOVEL 0 1 5.115814 KEEP 0 0 0 17 578 CC 0.999366 0.999365 0 8 60 300 0 0 21.059291 112 60 4091 166 0.066667 0.999999 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 11933101 11933101 __UNKNOWN__ IGR SNP T T A rs11128579 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:11933101T>A NA NA TAMM41 (44708 upstream) : RN7SL147P (61162 downstream) NA NA NA TCCAAATGAGTTTAACAGAAA 0.388 NA A||| 1215 0.242612 0.3411 0.1772 5008 , , NA 17159 0.2778 NA 0.2604 False NA ,,, NA NA NA 2504 0.1012 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.11933101T>A NA hg19 0.02 4.581793 GAGxTTA COVERED NOVEL 0 2 2.643531 KEEP 0 1 35 21 672 TT 0.999879 0.999879 0 8 60 309 0 0 21.532447 127 60 4570 207 0.059259 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 11950654 11950654 __UNKNOWN__ IGR SNP C C T rs72494908 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:11950654C>T NA NA TAMM41 (62261 upstream) : RN7SL147P (43609 downstream) NA NA NA GAGACGCCCACGCTGCCACGT 0.517 NA c||| 536 0.107029 0.0582 0.1167 5008 , , NA 18755 0.2351 NA 0.0726 False NA ,,, NA NA NA 2504 0.0695 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.11950654C>T NA hg19 0.02 2.129636 CCAxGCT COVERED NOVEL 0 0 2.708461 KEEP 0 0 0 9 301 CC 0.99254 0.991017 0 7 60 266 0 0 19.838142 68 60 2443 101 0.093333 0.998465 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 11952073 11952073 __UNKNOWN__ IGR SNP C C G rs3732961 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:11952073C>G NA NA TAMM41 (63680 upstream) : RN7SL147P (42190 downstream) NA NA NA CCAGCCCATACAGCTGGGCTG 0.532 NA g||| 2029 0.405152 0.6256 0.2983 5008 , , NA 17586 0.4335 NA 0.3082 False NA ,,, NA NA NA 2504 0.2536 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.11952073C>G NA hg19 0.02 7.38669 ATAxAGC COVERED NOVEL 0 1 4.149949 KEEP 0 1 38 27 929 CC 0.999997 0.999997 0 14 60 547 0 0 39.644167 177 60 6664 277 0.073298 1 SYN2 6854 __UNKNOWN__ __UNKNOWN__ 3 12210132 12210132 __UNKNOWN__ RNA SNP C C T rs11916408 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:12210132C>T ENST00000432424.2 + 0 1330 Q92777 SYN2_HUMAN synapsin II NA NA neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268) cell junction (GO:0030054)|synaptic vesicle (GO:0008021) ATP binding (GO:0005524)|catalytic activity (GO:0003824) breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 18 GGCTGACCCACGCCATGGGTA 0.488 NA c||| 726 0.144968 0.3283 0.0548 5008 , , NA 23172 0.1825 NA 0.0368 False NA ,,, NA NA NA 2504 0.0337 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA CCDS74900.1, CCDS74901.1 3p25.2 2013-09-20 ENSG00000157152 ENSG00000157152 6854 11495 protein-coding gene gene with protein product 600755 NA 8530057 Standard NM_133625 XM_006713311 NA Approved SYNII, SYNIIa, SYNIIb uc003bwm.3 Q92777 OTTHUMG00000155335 ENST00000432424.2: chr3.hg19:g.12210132C>T NA A8MY98 hg19 0.02 1.916155 CCAxGCC COVERED NOVEL SYN2-002 KNOWN basic processed_transcript NA processed_transcript OTTHUMT00000339528.3 0 2.40688 KEEP 0 0 0 8 252 CC 0.99257 0.99234 0 + 5 60 176 0 0 11.654312 83 60 2669 97 ENST00000432424.2 0.056818 0.999768 CAND2 23066 __UNKNOWN__ __UNKNOWN__ 3 12857485 12857485 __UNKNOWN__ Missense_Mutation SNP G G C rs147449397 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:12857485G>C ENST00000456430.2 + 9 1460 c.1419G>C c.(1417-1419)gaG>gaC p.E473D CAND2_ENST00000295989.5_Missense_Mutation_p.E380D NM_001162499.1 NP_001155971.1 O75155 CAND2_HUMAN cullin-associated and neddylation-dissociated 2 (putative) 473 NA positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351) intracellular (GO:0005622)|nucleus (GO:0005634) breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 GCCTGGCCGAGCATATGCCTG 0.637 NA G||| 18 0.00359425 0.0 0.0 5008 , , NA 18892 0.0179 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA GBM(43;676 868 1633 6395 37496) NA 0 57 63 61 NA NA 3 NA 12857485 2038 4192 6230 SO:0001583 missense CCDS43053.1, CCDS54554.1 3p25.2 2008-02-05 ENSG00000144712 ENSG00000144712 23066 30689 protein-coding gene gene with protein product TBP interacting protein 610403 NA 9734811, 10441524 Standard XM_371617 NM_012298 NA Approved TIP120B, KIAA0667, Tp120b uc003bxk.2 O75155 OTTHUMG00000155397 ENST00000456430.2:c.1419G>C chr3.hg19:g.12857485G>C ENSP00000387641:p.Glu473Asp NA B9EGM9|E9KL24 hg19 CCDS54554.1 0.02 8.519189 CGAxCAT COVERED 11 0.005036630036630037 0 0.0 0 0.0 11 0.019230769230769232 0 0.0 G 0.271 -0.992654 0.02162 . . ENSG00000144712 ENST00000295989;ENST00000456430 T;T 0.65732 -0.17;-0.17 5.12 3.32 0.38043 Armadillo-like helical (1);Armadillo-type fold (1); 0.284575 0.32884 N 0.005523 T 0.20618 0.0496 N 0.11927 0.2 0.80722 D 1 B;B 0.02656 0.0;0.0 B;B 0.04013 0.001;0.001 T 0.10132 -1.0643 10 0.05959 T 0.93 -20.2787 8.5211 0.33275 0.0856:0.1553:0.7591:0.0 . 473;380 O75155;O75155-2 CAND2_HUMAN;. D 380;473 ENSP00000295989:E380D;ENSP00000387641:E473D ENSP00000295989:E380D E + 3 2 CAND2 12832485 0.975000 0.34042 0.955000 0.39395 0.134000 0.20937 0.068000 0.14531 0.563000 0.29222 0.561000 0.74099 GAG NOVEL CAND2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000339856.4 0 14.146064 KEEP 0 0 0 47 1681 GG 1 1 0 + 9 60 321 0 0 20.29066 200 60 7419 337 ENST00000456430.2 0.043062 1 NUP210 23225 __UNKNOWN__ __UNKNOWN__ 3 13358816 13358816 __UNKNOWN__ 3'UTR SNP T T A rs2293249 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:13358816T>A ENST00000254508.5 - 0 6111 NM_024923.2 NP_079199.2 Q8TEM1 PO210_HUMAN nucleoporin 210kDa NA NA carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032) endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643) NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_neural(104;0.187) AGACAACTTCTAAAGAGCACT 0.423 NA T||| 210 0.0419329 0.0 0.0519 5008 , , NA 21568 0.1448 NA 0.0099 False NA ,,, NA NA NA 2504 0.0184 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB020713 CCDS33704.1 3p25 2008-02-05 ENSG00000132182 ENSG00000132182 23225 30052 protein-coding gene gene with protein product 607703 NA 2184032, 7504063 Standard NM_024923 NM_024923 NA Approved GP210, POM210, FLJ22389, KIAA0906 uc003bxv.1 Q8TEM1 OTTHUMG00000157268 ENST00000254508.5:c.*365A>T chr3.hg19:g.13358816T>A NA A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3 hg19 CCDS33704.1 0.02 7.864567 TTCxAAA COVERED NOVEL NUP210-001 KNOWN non_canonical_conserved|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000340085.1 0 6.620546 KEEP 0 0 0 22 712 TT 0.999879 0.999879 0 - 8 60 265 0 0 15.698035 196 60 7136 263 ENST00000254508.5 0.039216 1 NUP210 23225 __UNKNOWN__ __UNKNOWN__ 3 13379452 13379452 __UNKNOWN__ Intron SNP G G A rs3773301 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:13379452G>A ENST00000254508.5 - 26 3554 NUP210_ENST00000485755.1_Intron NM_024923.2 NP_079199.2 Q8TEM1 PO210_HUMAN nucleoporin 210kDa NA NA carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032) endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643) NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_neural(104;0.187) GTGTGGGGATGCAGTGCTGGC 0.632 NA G||| 1024 0.204473 0.2012 0.1657 5008 , , NA 21120 0.2907 NA 0.164 False NA ,,, NA NA NA 2504 0.1892 NA NA NA NA 0 G 869,3531 316.6+/-294.7 93,683,1424 39 33 35 -7 0 3 dbSNP_107 35 1426,7172 259.0+/-282.4 122,1182,2995 no intron NUP210 NM_024923.2 215,1865,4419 AA,AG,GG 16.5853,19.75,17.6566 13379452 2295,10703 2200 4299 6499 SO:0001627 intron_variant AB020713 CCDS33704.1 3p25 2008-02-05 ENSG00000132182 ENSG00000132182 23225 30052 protein-coding gene gene with protein product 607703 NA 2184032, 7504063 Standard NM_024923 NM_024923 NA Approved GP210, POM210, FLJ22389, KIAA0906 uc003bxv.1 Q8TEM1 OTTHUMG00000157268 ENST00000254508.5:c.3472-35C>T chr3.hg19:g.13379452G>A NA A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3 hg19 CCDS33704.1 0.02 6.318023 GATxCAG COVERED NOVEL NUP210-001 KNOWN non_canonical_conserved|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000340085.1 0 12.039288 KEEP 0 0 0 40 1422 GG 1 1 0 - 19 60 671 0 0 48.950702 180 60 6816 311 ENST00000254508.5 0.095477 1 FBLN2 2199 __UNKNOWN__ __UNKNOWN__ 3 13670481 13670481 __UNKNOWN__ Silent SNP A A G rs2242023 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:13670481A>G ENST00000404922.3 + 12 2765 c.2646A>G c.(2644-2646)acA>acG p.T882T FBLN2_ENST00000535798.1_Silent_p.T861T|FBLN2_ENST00000295760.7_Silent_p.T835T|FBLN2_ENST00000492059.1_Silent_p.T882T NM_001004019.1 NP_001004019.1 P98095 FBLN2_HUMAN fibulin 2 883 EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}. NA extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811) extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982) calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201) haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (1;0.00416) GCTCCTACACATGCCAGAGGA 0.637 NA a||| 3395 0.677915 0.5439 0.7896 5008 , , NA 18169 0.7629 NA 0.6928 False NA ,,, NA NA NA 2504 0.6769 NA NA NA NA 0 A ,, 2539,1815 761,1017,399 43 48 46 2646,2646,2505 -7.2 0.8 3 dbSNP_98 46 5688,2878 1882,1924,477 no coding-synonymous,coding-synonymous,coding-synonymous FBLN2 NM_001004019.1,NM_001165035.1,NM_001998.2 ,, 2643,2941,876 GG,GA,AA 33.5979,41.6858,36.3235 ,, 882/1232,882/1232,835/1185 13670481 8227,4693 2177 4283 6460 SO:0001819 synonymous_variant X82494 CCDS46761.1, CCDS46762.1 3p25-p24 2010-06-15 ENSG00000163520 ENSG00000163520 2199 Fibulins 3601 protein-coding gene gene with protein product 135821 NA 7806230 Standard NM_001004019 NM_001165035 NA Approved uc011ava.2 P98095 OTTHUMG00000155437 ENST00000404922.3:c.2646A>G chr3.hg19:g.13670481A>G NA B7Z9C5|Q8IUI0|Q8IUI1 hg19 CCDS46761.1 0.02 10.462309 CACxTGC COVERED NOVEL FBLN2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000340082.4 0 11.368456 KEEP 0 1 32 49 1538 AA 1 1 0 + 15 60 515 0 0 33.180669 278 60 10071 442 ENST00000404922.3 0.051195 1 FBLN2 2199 __UNKNOWN__ __UNKNOWN__ 3 13670536 13670536 __UNKNOWN__ Missense_Mutation SNP A A G rs9843344 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:13670536A>G ENST00000404922.3 + 12 2820 c.2701A>G c.(2701-2703)Acc>Gcc p.T901A FBLN2_ENST00000535798.1_Missense_Mutation_p.T880A|FBLN2_ENST00000295760.7_Missense_Mutation_p.T854A|FBLN2_ENST00000492059.1_Missense_Mutation_p.T901A NM_001004019.1 NP_001004019.1 P98095 FBLN2_HUMAN fibulin 2 897 EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}. NA extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811) extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982) calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201) haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (1;0.00416) CGATGATGGGACCAAGTGTGT 0.687 NA G||| 4033 0.805312 0.7595 0.8314 5008 , , NA 16002 0.9931 NA 0.6938 False NA ,,, NA NA NA 2504 0.7699 NA NA NA NA 0 G ALA/THR,ALA/THR,ALA/THR 3246,1060 1223,800,130 30 37 35 2701,2701,2560 -4.2 0 3 dbSNP_119 35 5667,2839 1875,1917,461 yes missense,missense,missense FBLN2 NM_001004019.1,NM_001165035.1,NM_001998.2 58,58,58 3098,2717,591 GG,GA,AA 33.3764,24.6168,30.4324 benign,benign,benign 901/1232,901/1232,854/1185 13670536 8913,3899 2153 4253 6406 SO:0001583 missense X82494 CCDS46761.1, CCDS46762.1 3p25-p24 2010-06-15 ENSG00000163520 ENSG00000163520 2199 Fibulins 3601 protein-coding gene gene with protein product 135821 NA 7806230 Standard NM_001004019 NM_001165035 NA Approved uc011ava.2 P98095 OTTHUMG00000155437 ENST00000404922.3:c.2701A>G chr3.hg19:g.13670536A>G ENSP00000384169:p.Thr901Ala NA B7Z9C5|Q8IUI0|Q8IUI1 hg19 CCDS46761.1 0.02 8.520471 GGGxCCA COVERED 1768 0.8095238095238095 381 0.774390243902439 298 0.8232044198895028 568 0.993006993006993 521 0.6873350923482849 G 2.748 -0.260700 0.05791 0.753832 0.666236 ENSG00000163520 ENST00000535798;ENST00000404922;ENST00000295760;ENST00000492059 D;D;D;D 0.92495 -3.05;-3.05;-2.24;-3.05 5.11 -4.23 0.03789 EGF-like calcium-binding (2); 0.607061 0.18061 N 0.152921 T 0.00012 0.0000 L 0.46670 1.46 0.80722 P 0.0 B;B;B 0.10296 0.0;0.0;0.003 B;B;B 0.14578 0.004;0.007;0.011 T 0.34354 -0.9832 9 0.17369 T 0.5 . 5.4622 0.16624 0.5363:0.0:0.2172:0.2465 rs9843344;rs17857399;rs56920605;rs9843344 854;901;880 P98095;P98095-2;F5H1F3 FBLN2_HUMAN;.;. A 880;901;854;901 ENSP00000445705:T880A;ENSP00000384169:T901A;ENSP00000295760:T854A;ENSP00000420042:T901A ENSP00000295760:T854A T + 1 0 FBLN2 13645537 0.001000 0.12720 0.001000 0.08648 0.061000 0.15899 0.056000 0.14256 -0.772000 0.04602 -0.119000 0.15052 ACC NOVEL FBLN2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000340082.4 1 14.743317 KEEP 0 0 0 49 1512 AA 1 1 0 + 7 60 263 0 0 15.86799 236 60 8114 356 ENST00000404922.3 0.028807 1 FBLN2 2199 __UNKNOWN__ __UNKNOWN__ 3 13670776 13670776 __UNKNOWN__ Silent SNP T T C rs4684968 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:13670776T>C ENST00000404922.3 + 13 2945 c.2826T>C c.(2824-2826)ttT>ttC p.F942F FBLN2_ENST00000535798.1_Silent_p.F921F|FBLN2_ENST00000295760.7_Silent_p.F895F|FBLN2_ENST00000492059.1_Silent_p.F942F NM_001004019.1 NP_001004019.1 P98095 FBLN2_HUMAN fibulin 2 937 EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}. NA extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811) extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982) calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201) haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (1;0.00416) GGGATGCCTTTGGCCGGGGCT 0.662 NA C||| 4010 0.800719 0.7602 0.8285 5008 , , NA 17572 0.9931 NA 0.6759 False NA ,,, NA NA NA 2504 0.7658 NA NA NA NA 0 C ,, 3117,1027 1160,797,115 25 29 28 2826,2826,2685 -1.6 0.8 3 dbSNP_111 28 5504,2900 1786,1932,484 no coding-synonymous,coding-synonymous,coding-synonymous FBLN2 NM_001004019.1,NM_001165035.1,NM_001998.2 ,, 2946,2729,599 CC,CT,TT 34.5074,24.7828,31.2958 ,, 942/1232,942/1232,895/1185 13670776 8621,3927 2072 4202 6274 SO:0001819 synonymous_variant X82494 CCDS46761.1, CCDS46762.1 3p25-p24 2010-06-15 ENSG00000163520 ENSG00000163520 2199 Fibulins 3601 protein-coding gene gene with protein product 135821 NA 7806230 Standard NM_001004019 NM_001165035 NA Approved uc011ava.2 P98095 OTTHUMG00000155437 ENST00000404922.3:c.2826T>C chr3.hg19:g.13670776T>C NA B7Z9C5|Q8IUI0|Q8IUI1 hg19 CCDS46761.1 0.02 1.593027 CTTxGGC COVERED NOVEL FBLN2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000340082.4 0 2.407403 KEEP 0 0 0 8 253 TT 0.99257 0.988289 0 + 7 60 215 0 0 15.057185 61 60 2197 81 ENST00000404922.3 0.102941 0.995687 WNT7A 7476 __UNKNOWN__ __UNKNOWN__ 3 13857892 13857892 __UNKNOWN__ 3'UTR SNP C C A rs2163910 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:13857892C>A ENST00000285018.4 - 0 3903 NM_004625.3 NP_004616.2 O00755 WNT7A_HUMAN wingless-type MMTV integration site family, member 7A NA NA asymmetric protein localization (GO:0008105)|canonical Wnt signaling pathway (GO:0060070)|cartilage condensation (GO:0001502)|cell fate commitment (GO:0045165)|cell proliferation in forebrain (GO:0021846)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system vasculogenesis (GO:0022009)|cerebellar granule cell differentiation (GO:0021707)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment of cell polarity (GO:0030010)|lens fiber cell development (GO:0070307)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neurogenesis (GO:0050768)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|non-canonical Wnt signaling pathway (GO:0035567)|oviduct development (GO:0060066)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of axon diameter (GO:0031133)|response to estradiol (GO:0032355)|sex differentiation (GO:0007548)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|stem cell development (GO:0048864)|synapse organization (GO:0050808)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway involved in wound healing, spreading of epidermal cells (GO:0035659) cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578) cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102) NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 24 aCAGGGCACCCGAGAGAGGGC 0.527 NA A||| 1412 0.281949 0.1203 0.2003 5008 , , NA 14906 0.6488 NA 0.1024 False NA ,,, NA NA NA 2504 0.365 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D83175 CCDS2616.1 3p25 2008-07-18 ENSG00000154764 ENSG00000154764 7476 Wingless-type MMTV integration sites 12786 protein-coding gene gene with protein product proto-oncogene Wnt7a protein 601570 NA 8893824, 9161407 Standard NM_004625 NM_004625 NA Approved uc003bye.1 O00755 OTTHUMG00000129803 ENST00000285018.4:c.*2549G>T chr3.hg19:g.13857892C>A NA Q96H90|Q9Y560 hg19 CCDS2616.1 0.02 1.772166 ACCxGAG COVERED NOVEL WNT7A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252031.2 0 3.912673 KEEP 0 0 0 13 451 CC 0.994391 0.994286 0 - 4 60 141 0 0 8.847656 89 60 3144 124 ENST00000285018.4 0.043011 0.999895 WNT7A 7476 __UNKNOWN__ __UNKNOWN__ 3 13896140 13896140 __UNKNOWN__ Silent SNP A A G rs3762719 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:13896140A>G ENST00000285018.4 - 3 763 c.459T>C c.(457-459)tcT>tcC p.S153S NM_004625.3 NP_004616.2 O00755 WNT7A_HUMAN wingless-type MMTV integration site family, member 7A 153 NA asymmetric protein localization (GO:0008105)|canonical Wnt signaling pathway (GO:0060070)|cartilage condensation (GO:0001502)|cell fate commitment (GO:0045165)|cell proliferation in forebrain (GO:0021846)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system vasculogenesis (GO:0022009)|cerebellar granule cell differentiation (GO:0021707)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment of cell polarity (GO:0030010)|lens fiber cell development (GO:0070307)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neurogenesis (GO:0050768)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|non-canonical Wnt signaling pathway (GO:0035567)|oviduct development (GO:0060066)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of axon diameter (GO:0031133)|response to estradiol (GO:0032355)|sex differentiation (GO:0007548)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|stem cell development (GO:0048864)|synapse organization (GO:0050808)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway involved in wound healing, spreading of epidermal cells (GO:0035659) cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578) cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102) NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 24 GGATGTCGGCAGAGCAGCCAC 0.607 NA A||| 1256 0.250799 0.1293 0.2061 5008 , , NA 18627 0.5813 NA 0.17 False NA ,,, NA NA NA 2504 0.1892 NA NA NA NA 0 A 775,3631 311.1+/-291.9 70,635,1498 113 110 111 459 -9.5 0.9 3 dbSNP_107 111 1567,7033 293.0+/-301.1 135,1297,2868 no coding-synonymous WNT7A NM_004625.3 205,1932,4366 GG,GA,AA 18.2209,17.5897,18.0071 153/350 13896140 2342,10664 2203 4300 6503 SO:0001819 synonymous_variant D83175 CCDS2616.1 3p25 2008-07-18 ENSG00000154764 ENSG00000154764 7476 Wingless-type MMTV integration sites 12786 protein-coding gene gene with protein product proto-oncogene Wnt7a protein 601570 NA 8893824, 9161407 Standard NM_004625 NM_004625 NA Approved uc003bye.1 O00755 OTTHUMG00000129803 ENST00000285018.4:c.459T>C chr3.hg19:g.13896140A>G NA Q96H90|Q9Y560 hg19 CCDS2616.1 0.02 11.601228 GGCxGAG COVERED NOVEL WNT7A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252031.2 1 15.945256 KEEP 0 0 0 53 1604 AA 1 1 0 - 12 60 433 0 0 28.023404 243 60 8970 384 ENST00000285018.4 0.047059 1 SLC6A6 6533 __UNKNOWN__ __UNKNOWN__ 3 14519885 14519885 __UNKNOWN__ Intron SNP A A T rs111588439|rs2241781 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:14519885A>T ENST00000454876.2 + 12 1676 SLC6A6_ENST00000360861.3_Intron P31641 SC6A6_HUMAN solute carrier family 6 (neurotransmitter transporter), member 6 NA NA amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|taurine transport (GO:0015734)|transmembrane transport (GO:0055085)|transport (GO:0006810) integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) neurotransmitter:sodium symporter activity (GO:0005328)|taurine binding (GO:0030977)|taurine:sodium symporter activity (GO:0005369) NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2) 28 gggtttttttaatcttattga 0.343 NA -||| 1992 0.397764 0.4766 0.2709 5008 , , NA 17435 0.5238 NA 0.1928 False NA ,,, NA NA NA 2504 0.4622 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS33705.1, CCDS46765.1 3p25.1 2013-07-19 2013-07-19 ENSG00000131389 ENSG00000131389 6533 Solute carriers 11052 protein-coding gene gene with protein product taurine transporter 186854 solute carrier family 6 (neurotransmitter transporter, taurine), member 6 NA 8010975, 8382624 Standard NM_003043 XM_006713307 NA Approved TAUT uc010heg.4 P31641 OTTHUMG00000155525 ENST00000454876.2:c.1348-89A>T chr3.hg19:g.14519885A>T NA B2RNU7|Q9BRI2|Q9BXB0 hg19 CCDS33705.1 0.02 4.448951 TTTxATC COVERED NOVEL SLC6A6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000340507.1 0 4.511955 KEEP 0 0 0 15 449 AA 0.99649 0.996488 0 + 5 60 186 0 0 12.018376 112 60 3943 132 ENST00000454876.2 0.042735 0.999998 SLC6A6 6533 __UNKNOWN__ __UNKNOWN__ 3 14520164 14520164 __UNKNOWN__ Intron SNP A A G rs2241780 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:14520164A>G ENST00000454876.2 + 12 1779 SLC6A6_ENST00000360861.3_Intron P31641 SC6A6_HUMAN solute carrier family 6 (neurotransmitter transporter), member 6 NA NA amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|taurine transport (GO:0015734)|transmembrane transport (GO:0055085)|transport (GO:0006810) integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) neurotransmitter:sodium symporter activity (GO:0005328)|taurine binding (GO:0030977)|taurine:sodium symporter activity (GO:0005369) NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2) 28 ATACTAACAGAAATTCAATTT 0.433 NA G||| 2136 0.426518 0.5741 0.281 5008 , , NA 18701 0.5198 NA 0.2068 False NA ,,, NA NA NA 2504 0.4601 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS33705.1, CCDS46765.1 3p25.1 2013-07-19 2013-07-19 ENSG00000131389 ENSG00000131389 6533 Solute carriers 11052 protein-coding gene gene with protein product taurine transporter 186854 solute carrier family 6 (neurotransmitter transporter, taurine), member 6 NA 8010975, 8382624 Standard NM_003043 XM_006713307 NA Approved TAUT uc010heg.4 P31641 OTTHUMG00000155525 ENST00000454876.2:c.1450+88A>G chr3.hg19:g.14520164A>G NA B2RNU7|Q9BRI2|Q9BXB0 hg19 CCDS33705.1 0.02 7.059005 CAGxAAT COVERED NOVEL SLC6A6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000340507.1 0 7.75282 KEEP 0 1 38 39 1134 AA 1 1 0 + 10 60 367 0 0 25.24223 150 60 5293 216 ENST00000454876.2 0.0625 1 SLC6A6 6533 __UNKNOWN__ __UNKNOWN__ 3 14520560 14520560 __UNKNOWN__ Intron SNP G G C rs2304510 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:14520560G>C ENST00000454876.2 + 13 1779 SLC6A6_ENST00000360861.3_Intron P31641 SC6A6_HUMAN solute carrier family 6 (neurotransmitter transporter), member 6 NA NA amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|taurine transport (GO:0015734)|transmembrane transport (GO:0055085)|transport (GO:0006810) integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) neurotransmitter:sodium symporter activity (GO:0005328)|taurine binding (GO:0030977)|taurine:sodium symporter activity (GO:0005369) NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2) 28 CTTGAACGCTGTGTCAGAAAA 0.542 NA G||| 1201 0.239816 0.205 0.2089 5008 , , NA 18182 0.372 NA 0.1481 False NA ,,, NA NA NA 2504 0.2669 NA NA NA NA 0 G , 942,3464 358.4+/-314.3 101,740,1362 69 64 66 , -3.7 0 3 dbSNP_100 66 1282,7318 255.1+/-280.1 95,1092,3113 no intron,intron SLC6A6 NM_001134367.1,NM_003043.3 , 196,1832,4475 CC,CG,GG 14.907,21.3799,17.0998 , , 14520560 2224,10782 2203 4300 6503 SO:0001627 intron_variant CCDS33705.1, CCDS46765.1 3p25.1 2013-07-19 2013-07-19 ENSG00000131389 ENSG00000131389 6533 Solute carriers 11052 protein-coding gene gene with protein product taurine transporter 186854 solute carrier family 6 (neurotransmitter transporter, taurine), member 6 NA 8010975, 8382624 Standard NM_003043 XM_006713307 NA Approved TAUT uc010heg.4 P31641 OTTHUMG00000155525 ENST00000454876.2:c.1451-33G>C chr3.hg19:g.14520560G>C NA B2RNU7|Q9BRI2|Q9BXB0 hg19 CCDS33705.1 0.02 2.531143 GCTxTGT COVERED NOVEL SLC6A6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000340507.1 0 6.320672 KEEP 0 0 0 21 751 GG 0.999869 0.967299 0 + 4 60 151 0 0 10.885306 48 60 1794 92 ENST00000454876.2 0.076923 0.967425 SLC6A6 6533 __UNKNOWN__ __UNKNOWN__ 3 14527363 14527363 __UNKNOWN__ 3'UTR SNP G G A rs2327896 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:14527363G>A ENST00000454876.2 + 0 3040 SLC6A6_ENST00000360861.3_3'UTR P31641 SC6A6_HUMAN solute carrier family 6 (neurotransmitter transporter), member 6 NA NA amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|taurine transport (GO:0015734)|transmembrane transport (GO:0055085)|transport (GO:0006810) integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) neurotransmitter:sodium symporter activity (GO:0005328)|taurine binding (GO:0030977)|taurine:sodium symporter activity (GO:0005369) NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2) 28 GCTGGCAGGAGTGAGGCTCAC 0.567 NA A||| 4320 0.86262 0.6793 0.928 5008 , , NA 17169 0.9851 NA 0.9533 False NA ,,, NA NA NA 2504 0.8446 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS33705.1, CCDS46765.1 3p25.1 2013-07-19 2013-07-19 ENSG00000131389 ENSG00000131389 6533 Solute carriers 11052 protein-coding gene gene with protein product taurine transporter 186854 solute carrier family 6 (neurotransmitter transporter, taurine), member 6 NA 8010975, 8382624 Standard NM_003043 XM_006713307 NA Approved TAUT uc010heg.4 P31641 OTTHUMG00000155525 ENST00000454876.2:c.*848G>A chr3.hg19:g.14527363G>A NA B2RNU7|Q9BRI2|Q9BXB0 hg19 CCDS33705.1 0.02 4.575317 GGAxTGA COVERED NOVEL SLC6A6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000340507.1 3 11.73603 KEEP 0 0 0 39 1324 GG 1 0.999996 0 + 10 60 372 0 0 27.259261 104 60 3820 171 ENST00000454876.2 0.087719 0.999996 SLC6A6 6533 __UNKNOWN__ __UNKNOWN__ 3 14527939 14527939 __UNKNOWN__ 3'UTR SNP C C G rs2341983 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:14527939C>G ENST00000454876.2 + 0 3616 SLC6A6_ENST00000360861.3_3'UTR P31641 SC6A6_HUMAN solute carrier family 6 (neurotransmitter transporter), member 6 NA NA amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|taurine transport (GO:0015734)|transmembrane transport (GO:0055085)|transport (GO:0006810) integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) neurotransmitter:sodium symporter activity (GO:0005328)|taurine binding (GO:0030977)|taurine:sodium symporter activity (GO:0005369) NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2) 28 TTACCACCTGCGGACCCAAAA 0.507 NA G||| 3744 0.747604 0.6422 0.8228 5008 , , NA 16845 0.869 NA 0.7903 False NA ,,, NA NA NA 2504 0.6677 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS33705.1, CCDS46765.1 3p25.1 2013-07-19 2013-07-19 ENSG00000131389 ENSG00000131389 6533 Solute carriers 11052 protein-coding gene gene with protein product taurine transporter 186854 solute carrier family 6 (neurotransmitter transporter, taurine), member 6 NA 8010975, 8382624 Standard NM_003043 XM_006713307 NA Approved TAUT uc010heg.4 P31641 OTTHUMG00000155525 ENST00000454876.2:c.*1424C>G chr3.hg19:g.14527939C>G NA B2RNU7|Q9BRI2|Q9BXB0 hg19 CCDS33705.1 0.02 9.680201 CTGxGGA COVERED NOVEL SLC6A6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000340507.1 2 20.163158 KEEP 0 0 0 67 2310 CC 1 1 0 + 15 60 554 0 0 38.326268 221 60 7778 371 ENST00000454876.2 0.063559 1 SLC6A6 6533 __UNKNOWN__ __UNKNOWN__ 3 14528004 14528004 __UNKNOWN__ 3'UTR SNP T T C rs2341984 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:14528004T>C ENST00000454876.2 + 0 3681 SLC6A6_ENST00000360861.3_3'UTR P31641 SC6A6_HUMAN solute carrier family 6 (neurotransmitter transporter), member 6 NA NA amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|taurine transport (GO:0015734)|transmembrane transport (GO:0055085)|transport (GO:0006810) integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) neurotransmitter:sodium symporter activity (GO:0005328)|taurine binding (GO:0030977)|taurine:sodium symporter activity (GO:0005369) NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2) 28 TCCTGGCCCCTCAGAACTGGC 0.517 NA C||| 3458 0.690495 0.5121 0.7954 5008 , , NA 16758 0.8542 NA 0.7505 False NA ,,, NA NA NA 2504 0.6268 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS33705.1, CCDS46765.1 3p25.1 2013-07-19 2013-07-19 ENSG00000131389 ENSG00000131389 6533 Solute carriers 11052 protein-coding gene gene with protein product taurine transporter 186854 solute carrier family 6 (neurotransmitter transporter, taurine), member 6 NA 8010975, 8382624 Standard NM_003043 XM_006713307 NA Approved TAUT uc010heg.4 P31641 OTTHUMG00000155525 ENST00000454876.2:c.*1489T>C chr3.hg19:g.14528004T>C NA B2RNU7|Q9BRI2|Q9BXB0 hg19 CCDS33705.1 0.02 9.106498 CCCxCAG COVERED NOVEL SLC6A6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000340507.1 2 15.950267 KEEP 0 0 0 53 1753 TT 1 1 0 + 9 60 334 0 0 21.15091 224 60 8298 349 ENST00000454876.2 0.038627 1 GRIP2 80852 __UNKNOWN__ __UNKNOWN__ 3 14547198 14547198 __UNKNOWN__ RNA SNP G G A rs61731939 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:14547198G>A ENST00000273083.3 - 0 2562 Q9C0E4 GRIP2_HUMAN glutamate receptor interacting protein 2 NA NA synaptic transmission (GO:0007268) cytosol (GO:0005829)|plasma membrane (GO:0005886) endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 25 GGTATAGCTCGTCCTCCGGGG 0.682 NA G||| 311 0.0621006 0.0356 0.0346 5008 , , NA 13730 0.1389 NA 0.0368 False NA ,,, NA NA NA 2504 0.0644 NA NA NA NA 0 G MET/THR 143,3801 3,137,1832 24 27 26 2788 0.3 0.5 3 dbSNP_129 26 325,7925 2,321,3802 yes missense GRIP2 NM_001080423.2 81 5,458,5634 AA,AG,GG 3.9394,3.6258,3.838 benign 930/1141 14547198 468,11726 1972 4125 6097 AB051506 3p24-p23 2012-02-08 ENSG00000144596 ENSG00000144596 80852 23841 protein-coding gene gene with protein product NA Standard NM_001080423 NM_001080423 NA Approved KIAA1719 uc021wtn.1 Q9C0E4 OTTHUMG00000155544 ENST00000273083.3: chr3.hg19:g.14547198G>A NA Q8TEH9|Q9H7H3 hg19 0.02 13.242408 CTCxTCC COVERED NOVEL GRIP2-001 KNOWN basic processed_transcript NA processed_transcript OTTHUMT00000340582.2 1 20.222839 KEEP 0 2 56 87 2855 GG 1 1 0 - 17 60 561 0 0 35.354035 312 60 10504 595 ENST00000273083.3 0.051672 1 GRIP2 80852 __UNKNOWN__ __UNKNOWN__ 3 14566919 14566919 __UNKNOWN__ RNA SNP C C T rs7610941 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:14566919C>T ENST00000273083.3 - 0 323 Q9C0E4 GRIP2_HUMAN glutamate receptor interacting protein 2 NA NA synaptic transmission (GO:0007268) cytosol (GO:0005829)|plasma membrane (GO:0005886) endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 25 CCCCCTCCTGCGGCCGTGCCA 0.592 NA C||| 370 0.0738818 0.0552 0.036 5008 , , NA 18006 0.1587 NA 0.0398 False NA ,,, NA NA NA 2504 0.0736 NA NA NA NA 0 C 193,3713 5,183,1765 39 42 41 1.1 0 3 dbSNP_116 41 328,7956 3,322,3817 no intron GRIP2 NM_001080423.2 8,505,5582 TT,TC,CC 3.9594,4.9411,4.274 14566919 521,11669 1953 4142 6095 AB051506 3p24-p23 2012-02-08 ENSG00000144596 ENSG00000144596 80852 23841 protein-coding gene gene with protein product NA Standard NM_001080423 NM_001080423 NA Approved KIAA1719 uc021wtn.1 Q9C0E4 OTTHUMG00000155544 ENST00000273083.3: chr3.hg19:g.14566919C>T NA Q8TEH9|Q9H7H3 hg19 0.02 3.52369 CTGxGGC COVERED NOVEL GRIP2-001 KNOWN basic processed_transcript NA processed_transcript OTTHUMT00000340582.2 1 11.100548 KEEP 0 0 0 37 1278 CC 1 1 0 - 8 60 267 0 0 17.144026 135 60 4883 197 ENST00000273083.3 0.055944 1 FGD5 152273 __UNKNOWN__ __UNKNOWN__ 3 14964479 14964479 __UNKNOWN__ Intron SNP G G A rs60913425 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:14964479G>A ENST00000285046.5 + 16 3917 FGD5-AS1_ENST00000430166.1_RNA|FGD5_ENST00000543601.1_Intron|FGD5_ENST00000476851.1_Intron NM_152536.3 NP_689749.3 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 NA NA actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726) guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267) NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1) 54 TTAGCAGAGGGAGCGGAGGGG 0.592 NA G||| 682 0.136182 0.1831 0.1239 5008 , , NA 14379 0.1756 NA 0.0785 False NA ,,, NA NA NA 2504 0.1002 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK097276 CCDS46767.1 3p25.1 2013-01-10 ENSG00000154783 ENSG00000154783 152273 Zinc fingers, FYVE domain containing, Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing 19117 protein-coding gene gene with protein product 614788 NA Standard NM_152536 NM_152536 NA Approved ZFYVE23, FLJ39957, FLJ00274 uc003bzc.3 Q6ZNL6 OTTHUMG00000155556 ENST00000285046.5:c.3808-74G>A chr3.hg19:g.14964479G>A NA B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4 hg19 CCDS46767.1 0.02 6.114012 AGGxAGC COVERED NOVEL FGD5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000340628.1 1 11.135694 KEEP 0 0 0 37 1286 GG 1 1 0 + 9 60 309 0 0 20.312585 145 60 5326 234 ENST00000285046.5 0.058442 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 15185634 15185634 __UNKNOWN__ IGR SNP T T C rs3864041 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:15185634T>C NA NA AC090954.1 (9597 upstream) : COL6A4P1 (21147 downstream) NA NA NA GTGCTTGAGATGCCAGAGACT 0.398 NA N||| 2369 0.473043 0.6581 0.3761 5008 , , NA 19617 0.5288 NA 0.3897 False NA ,,, NA NA NA 2504 0.32 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.15185634T>C NA hg19 0.02 2.082461 AGAxGCC COVERED NOVEL 0 2 3.911892 KEEP 0 0 0 13 407 TT 0.994391 0.990645 0 4 60 150 0 0 10.277188 65 60 2408 109 0.057971 0.996233 HACL1 26061 __UNKNOWN__ __UNKNOWN__ 3 15642844 15642844 __UNKNOWN__ Intron SNP C C T rs41284037 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:15642844C>T ENST00000451445.2 - 1 205 HACL1_ENST00000321169.5_Intron|HACL1_ENST00000456194.2_Intron|HACL1_ENST00000457447.2_Intron|HACL1_ENST00000435217.2_Intron NM_001284416.1 NP_001271345.1 Q9UJ83 HACL1_HUMAN 2-hydroxyacyl-CoA lyase 1 NA NA cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281) peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777) carbon-carbon lyase activity (GO:0016830)|cofactor binding (GO:0048037)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|receptor binding (GO:0005102)|thiamine pyrophosphate binding (GO:0030976) NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1) 16 TCGCGGTCCCCGCCAGCTTCC 0.582 NA C||| 320 0.0638978 0.1074 0.0461 5008 , , NA 19966 0.0179 NA 0.0676 False NA ,,, NA NA NA 2504 0.0613 NA NA NA NA 0 C 440,3966 210.2+/-230.7 21,398,1784 56 52 53 2.6 0 3 dbSNP_127 53 677,7923 167.1+/-218.9 33,611,3656 no intron HACL1 NM_012260.2 54,1009,5440 TT,TC,CC 7.8721,9.9864,8.5883 15642844 1117,11889 2203 4300 6503 SO:0001627 intron_variant AJ131753 CCDS2627.1, CCDS68360.1, CCDS68361.1, CCDS68362.1 3p24.3 2009-01-14 2006-05-16 2006-05-16 ENSG00000131373 ENSG00000131373 26061 4.1.-.- 17856 protein-coding gene gene with protein product 604300 2-hydroxyphytanoyl-CoA lyase HPCL NA 10468558, 15644336 Standard NM_012260 NM_001284416 NA Approved 2-HPCL, PHYH2 uc003caf.3 Q9UJ83 OTTHUMG00000129862 ENST00000451445.2:c.81+45G>A chr3.hg19:g.15642844C>T NA B4DWI1|B4DXI5|E9PEN4|Q9BV42|Q9P0A2 hg19 0.02 10.344368 CCCxGCC COVERED NOVEL HACL1-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000342872.1 3 40.475975 KEEP 0 1 12 139 4723 CC 1 1 0 - 9 60 324 0 0 19.209144 287 60 10162 514 ENST00000451445.2 0.030405 1 DPH3 285381 __UNKNOWN__ __UNKNOWN__ 3 16301148 16301148 __UNKNOWN__ 3'UTR SNP T T C rs10087 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:16301148T>C ENST00000488423.1 - 0 1467 DPH3_ENST00000383775.4_3'UTR NM_206831.2 NP_996662.1 Q96FX2 DPH3_HUMAN diphthamide biosynthesis 3 NA NA negative regulation of protein secretion (GO:0050709)|peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)|positive regulation of binding (GO:0051099) cytoplasm (GO:0005737)|nucleus (GO:0005634) metal ion binding (GO:0046872) large_intestine(2) 2 CTTTATATATTTCTTTTTCTC 0.343 NA T||| 2109 0.421126 0.2625 0.4654 5008 , , NA 18945 0.4762 NA 0.4334 False NA ,,, NA NA NA 2504 0.5348 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC010181 CCDS2629.1, CCDS43058.1 3p25.1 2013-06-19 2013-06-19 2006-10-25 ENSG00000154813 ENSG00000154813 285381 27717 protein-coding gene gene with protein product DPH3A, KTI11 homolog A (S. cerevisiae) 608959 zinc finger, CSL-type containing 2, DPH3 homolog (KTI11, S. cerevisiae), DPH3, KTI11 homolog (S. cerevisiae) ZCSL2 NA 14527407, 14980502, 15485916, 16648478 Standard NM_206831 NM_001047434 NA Approved DESR1, DELGIP1, MGC20197, KTI11, DELGIP, DPH3A uc003cau.3 Q96FX2 OTTHUMG00000129866 ENST00000488423.1:c.*1123A>G chr3.hg19:g.16301148T>C NA hg19 CCDS2629.1 0.02 5.017216 TATxTCT COVERED NOVEL DPH3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252108.2 1 4.246627 KEEP 0 1 34 26 812 TT 0.999988 0.999987 0 - 9 60 359 0 0 25.929465 123 60 4397 198 ENST00000488423.1 0.068182 1 DPH3 285381 __UNKNOWN__ __UNKNOWN__ 3 16305674 16305674 __UNKNOWN__ Silent SNP C C G rs14080 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:16305674C>G ENST00000488423.1 - 2 266 c.171G>C c.(169-171)gtG>gtC p.V57V DPH3_ENST00000285082.4_5'UTR|DPH3_ENST00000383775.4_Intron NM_206831.2 NP_996662.1 Q96FX2 DPH3_HUMAN diphthamide biosynthesis 3 57 NA negative regulation of protein secretion (GO:0050709)|peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)|positive regulation of binding (GO:0051099) cytoplasm (GO:0005737)|nucleus (GO:0005634) metal ion binding (GO:0046872) large_intestine(2) 2 TGTCATAAATCACTTTTATAA 0.418 NA C||| 2172 0.433706 0.3079 0.4712 5008 , , NA 17298 0.4762 NA 0.4324 False NA ,,, NA NA NA 2504 0.5348 NA NA NA NA 0 C , 1546,2860 483.5+/-359.7 274,998,931 107 99 102 ,171 3.8 1 3 dbSNP_52 102 3648,4952 520.9+/-379.8 782,2084,1434 no intron,coding-synonymous DPH3 NM_001047434.2,NM_206831.2 , 1056,3082,2365 GG,GC,CC 42.4186,35.0885,39.9354 , ,57/83 16305674 5194,7812 2203 4300 6503 SO:0001819 synonymous_variant BC010181 CCDS2629.1, CCDS43058.1 3p25.1 2013-06-19 2013-06-19 2006-10-25 ENSG00000154813 ENSG00000154813 285381 27717 protein-coding gene gene with protein product DPH3A, KTI11 homolog A (S. cerevisiae) 608959 zinc finger, CSL-type containing 2, DPH3 homolog (KTI11, S. cerevisiae), DPH3, KTI11 homolog (S. cerevisiae) ZCSL2 NA 14527407, 14980502, 15485916, 16648478 Standard NM_206831 NM_001047434 NA Approved DESR1, DELGIP1, MGC20197, KTI11, DELGIP, DPH3A uc003cau.3 Q96FX2 OTTHUMG00000129866 ENST00000488423.1:c.171G>C chr3.hg19:g.16305674C>G NA hg19 CCDS2629.1 0.02 30.35151 AATxACT COVERED NOVEL DPH3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252108.2 7 65.951147 KEEP 0 4 140 268 9245 CC 1 1 0 - 34 60 1318 0 0 91.212661 570 60 21524 1062 ENST00000488423.1 0.056291 1 OXNAD1 92106 __UNKNOWN__ __UNKNOWN__ 3 16312564 16312564 __UNKNOWN__ Silent SNP C C T rs842259 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:16312564C>T ENST00000285083.5 + 3 570 c.105C>T c.(103-105)caC>caT p.H35H OXNAD1_ENST00000435829.2_Silent_p.H53H|OXNAD1_ENST00000606098.1_Silent_p.H35H|OXNAD1_ENST00000544043.1_Silent_p.H53H|OXNAD1_ENST00000605932.1_Silent_p.H35H NM_138381.3 NP_612390.1 Q96HP4 OXND1_HUMAN oxidoreductase NAD-binding domain containing 1 35 NA mitochondrion (GO:0005739) oxidoreductase activity (GO:0016491) endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|skin(2) 13 CTTTGCGCCACCTTACTCTAA 0.483 NA C||| 2107 0.420727 0.2617 0.4654 5008 , , NA 17886 0.4752 NA 0.4324 False NA ,,, NA NA NA 2504 0.5358 NA NA NA NA 0 C 1361,3045 450.8+/-349.5 221,919,1063 157 146 150 105 3 0.5 3 dbSNP_86 150 3655,4945 526.1+/-380.9 787,2081,1432 no coding-synonymous OXNAD1 NM_138381.3 1008,3000,2495 TT,TC,CC 42.5,30.8897,38.5668 35/313 16312564 5016,7990 2203 4300 6503 SO:0001819 synonymous_variant AL832787 CCDS2630.1 3p25-p24 2010-03-19 ENSG00000154814 ENSG00000154814 92106 25128 protein-coding gene gene with protein product NA 12477932 Standard NM_138381 NM_138381 NA Approved MGC15763 uc003caw.3 Q96HP4 OTTHUMG00000129867 ENST00000285083.5:c.105C>T chr3.hg19:g.16312564C>T NA Q2HYC7|Q59FA4 hg19 CCDS2630.1 0.02 10.723912 CCAxCTT COVERED NOVEL OXNAD1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000252109.1 0 22.271438 KEEP 0 0 0 74 2587 CC 1 1 0 + 13 60 458 0 0 29.515806 251 60 9027 365 ENST00000285083.5 0.049242 1 OXNAD1 92106 __UNKNOWN__ __UNKNOWN__ 3 16327855 16327855 __UNKNOWN__ Missense_Mutation SNP T T G rs842274 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:16327855T>G ENST00000285083.5 + 5 655 c.190T>G c.(190-192)Tca>Gca p.S64A OXNAD1_ENST00000435829.2_Missense_Mutation_p.S82A|OXNAD1_ENST00000606098.1_Missense_Mutation_p.S64A|OXNAD1_ENST00000544043.1_Missense_Mutation_p.S82A|OXNAD1_ENST00000605932.1_Missense_Mutation_p.S64A NM_138381.3 NP_612390.1 Q96HP4 OXND1_HUMAN oxidoreductase NAD-binding domain containing 1 64 FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}. NA S -> A (in dbSNP:rs842274). {ECO:0000269|Ref.1}. mitochondrion (GO:0005739) oxidoreductase activity (GO:0016491) endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|skin(2) 13 TTAGATTGTGTCAGCAGCTAA 0.478 NA T||| 2169 0.433107 0.3056 0.4712 5008 , , NA 17571 0.4762 NA 0.4334 False NA ,,, NA NA NA 2504 0.5337 NA NA NA NA 0 T ALA/SER 1547,2859 484.4+/-360.0 274,999,930 179 154 162 190 2.9 0.6 3 dbSNP_86 162 3655,4945 524.7+/-380.6 788,2079,1433 yes missense OXNAD1 NM_138381.3 99 1062,3078,2363 GG,GT,TT 42.5,35.1112,39.9969 benign 64/313 16327855 5202,7804 2203 4300 6503 SO:0001583 missense AL832787 CCDS2630.1 3p25-p24 2010-03-19 ENSG00000154814 ENSG00000154814 92106 25128 protein-coding gene gene with protein product NA 12477932 Standard NM_138381 NM_138381 NA Approved MGC15763 uc003caw.3 Q96HP4 OTTHUMG00000129867 ENST00000285083.5:c.190T>G chr3.hg19:g.16327855T>G ENSP00000285083:p.Ser64Ala NA Q2HYC7|Q59FA4 hg19 CCDS2630.1 0.02 11.43803 GTGxCAG COVERED 908 0.4157509157509158 136 0.2764227642276423 170 0.4696132596685083 284 0.4965034965034965 318 0.41952506596306066 T 13.47 2.248105 0.39697 0.351112 0.425 ENSG00000154814 ENST00000285083;ENST00000435829;ENST00000544043 T;T;T 0.22336 2.29;1.96;2.28 5.26 2.89 0.33648 Riboflavin synthase-like beta-barrel (1);Ferredoxin reductase-type FAD-binding domain (1); 0.235250 0.44902 N 0.000405 T 0.00012 0.0000 L 0.29908 0.895 0.33960 P 0.354468 B;B 0.10296 0.003;0.001 B;B 0.11329 0.006;0.001 T 0.47471 -0.9115 9 0.20519 T 0.43 -5.9895 6.6934 0.23185 0.235:0.0:0.1618:0.6031 rs842274;rs3821707;rs17330471;rs52798805;rs58580702;rs842274 82;64 F5H620;Q96HP4 .;OXND1_HUMAN A 64;64;82 ENSP00000285083:S64A;ENSP00000389872:S64A;ENSP00000437967:S82A ENSP00000285083:S64A S + 1 0 OXNAD1 16302859 1.000000 0.71417 0.602000 0.28890 0.827000 0.46813 1.867000 0.39499 0.317000 0.23160 0.533000 0.62120 TCA NOVEL OXNAD1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000252109.1 1 17.662567 KEEP 0 1 35 71 2255 TT 1 1 0 + 10 60 353 0 0 22.206 241 60 8638 390 ENST00000285083.5 0.039841 1 OXNAD1 92106 __UNKNOWN__ __UNKNOWN__ 3 16343092 16343092 __UNKNOWN__ Intron SNP T T G rs842283 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:16343092T>G ENST00000285083.5 + 7 897 OXNAD1_ENST00000435829.2_Intron|OXNAD1_ENST00000606098.1_Intron|OXNAD1_ENST00000544043.1_Intron|OXNAD1_ENST00000605932.1_Intron NM_138381.3 NP_612390.1 Q96HP4 OXND1_HUMAN oxidoreductase NAD-binding domain containing 1 NA NA mitochondrion (GO:0005739) oxidoreductase activity (GO:0016491) endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|skin(2) 13 TTTAAGACCTTTGCTACAAAA 0.383 NA G||| 3581 0.715056 0.8661 0.6427 5008 , , NA 21065 0.6677 NA 0.6322 False NA ,,, NA NA NA 2504 0.6963 NA NA NA NA 0 G 3702,704 292.4+/-282.0 1554,594,55 54 53 54 1.6 0 3 dbSNP_86 54 5360,3240 480.8+/-370.5 1678,2004,618 no intron OXNAD1 NM_138381.3 3232,2598,673 GG,GT,TT 37.6744,15.9782,30.3245 16343092 9062,3944 2203 4300 6503 SO:0001627 intron_variant AL832787 CCDS2630.1 3p25-p24 2010-03-19 ENSG00000154814 ENSG00000154814 92106 25128 protein-coding gene gene with protein product NA 12477932 Standard NM_138381 NM_138381 NA Approved MGC15763 uc003caw.3 Q96HP4 OTTHUMG00000129867 ENST00000285083.5:c.433-41T>G chr3.hg19:g.16343092T>G NA Q2HYC7|Q59FA4 hg19 CCDS2630.1 0.02 2.346985 CCTxTGC COVERED NOVEL OXNAD1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000252109.1 2 2.34013 KEEP 0 1 26 17 537 TT 0.999859 0.997757 0 + 4 60 137 0 0 8.924486 69 60 2470 106 ENST00000285083.5 0.054795 0.997898 PLCL2 23228 __UNKNOWN__ __UNKNOWN__ 3 16974610 16974610 __UNKNOWN__ 5'UTR SNP C C A rs9880307 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:16974610C>A ENST00000432376.1 + 0 29 PLCL2_ENST00000396755.2_Intron|PLCL2_ENST00000460467.1_Intron|PLCL2_ENST00000418129.2_Intron NM_015184.5 NP_055999.2 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 NA NA B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228) cytoplasm (GO:0005737) calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871) breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 ATTGGACAGCCGGAGTATTTT 0.448 NA A||| 2423 0.483826 0.4047 0.4986 5008 , , NA 19352 0.6042 NA 0.4423 False NA ,,, NA NA NA 2504 0.499 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AB029015 CCDS33713.1, CCDS74911.1 3p25.3-p25.1 2008-03-18 2002-02-18 2002-02-22 ENSG00000154822 ENSG00000154822 23228 9064 protein-coding gene gene with protein product 614276 phospholipase C, epsilon 2 PLCE2 NA 10470851 Standard NM_015184 NA Approved KIAA1092 uc011awd.2 Q9UPR0 OTTHUMG00000155467 ENST00000432376.1:c.-225C>A chr3.hg19:g.16974610C>A NA A8K5V4|Q8N498|Q9H8L0|Q9UFP9 hg19 CCDS33713.1 0.02 4.922605 AGCxGGA COVERED NOVEL PLCL2-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000340251.1 0 9.630787 KEEP 0 0 0 32 1084 CC 0.999997 0.999996 0 + 14 60 534 0 0 41.312806 106 60 3712 181 ENST00000432376.1 0.116667 0.999999 PLCL2 23228 __UNKNOWN__ __UNKNOWN__ 3 17051081 17051081 __UNKNOWN__ Intron SNP T T A rs28498854 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:17051081T>A ENST00000418129.2 + 2 414 PLCL2_ENST00000396755.2_Intron|PLCL2_ENST00000460467.1_Intron|PLCL2_ENST00000432376.1_Intron NM_001144382.1 NP_001137854.1 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 NA NA B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228) cytoplasm (GO:0005737) calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871) breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 GATTTTTTTCTAGGAAATTAA 0.308 NA A||| 852 0.170128 0.1687 0.2911 5008 , , NA 16892 0.0823 NA 0.2127 False NA ,,, NA NA NA 2504 0.1329 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB029015 CCDS33713.1, CCDS74911.1 3p25.3-p25.1 2008-03-18 2002-02-18 2002-02-22 ENSG00000154822 ENSG00000154822 23228 9064 protein-coding gene gene with protein product 614276 phospholipase C, epsilon 2 PLCE2 NA 10470851 Standard NM_015184 NA Approved KIAA1092 uc011awd.2 Q9UPR0 OTTHUMG00000155467 ENST00000418129.2:c.-51-85T>A chr3.hg19:g.17051081T>A NA A8K5V4|Q8N498|Q9H8L0|Q9UFP9 hg19 CCDS33713.1 0.02 3.786574 TTCxAGG COVERED NOVEL PLCL2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000340250.3 0 4.512896 KEEP 0 0 0 15 451 TT 0.99649 0.99649 0 + 5 60 186 0 0 11.513454 142 60 5259 164 ENST00000418129.2 0.034014 1 PLCL2 23228 __UNKNOWN__ __UNKNOWN__ 3 17051450 17051450 __UNKNOWN__ Silent SNP C C A rs28932173 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:17051450C>A ENST00000418129.2 + 2 699 c.234C>A c.(232-234)cgC>cgA p.R78R PLCL2_ENST00000396755.2_Silent_p.R78R|PLCL2_ENST00000460467.1_3'UTR|PLCL2_ENST00000432376.1_Silent_p.R78R NM_001144382.1 NP_001137854.1 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 204 NA B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228) cytoplasm (GO:0005737) calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871) breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 ACATATTCCGCAGCAATGGCA 0.428 NA C||| 219 0.04373 0.003 0.1254 5008 , , NA 20785 0.0506 NA 0.0209 False NA ,,, NA NA NA 2504 0.0573 NA NA NA NA 0 C , 34,4372 38.4+/-70.7 0,34,2169 117 116 116 616,234 3.1 1 3 dbSNP_125 116 257,8343 100.6+/-161.9 9,239,4052 yes coding-synonymous,coding-synonymous PLCL2 NM_001144382.1,NM_015184.5 , 9,273,6221 AA,AC,CC 2.9884,0.7717,2.2374 , 204/1128,78/1002 17051450 291,12715 2203 4300 6503 SO:0001819 synonymous_variant AB029015 CCDS33713.1, CCDS74911.1 3p25.3-p25.1 2008-03-18 2002-02-18 2002-02-22 ENSG00000154822 ENSG00000154822 23228 9064 protein-coding gene gene with protein product 614276 phospholipase C, epsilon 2 PLCE2 NA 10470851 Standard NM_015184 NA Approved KIAA1092 uc011awd.2 Q9UPR0 OTTHUMG00000155467 ENST00000418129.2:c.234C>A chr3.hg19:g.17051450C>A NA A8K5V4|Q8N498|Q9H8L0|Q9UFP9 hg19 CCDS33713.1 0.02 26.209795 CCGxAGC COVERED NOVEL PLCL2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000340250.3 2 22.272478 KEEP 0 0 0 74 2634 CC 1 1 0 + 29 60 1042 0 0 67.186322 592 60 22329 809 ENST00000418129.2 0.046699 1 PLCL2 23228 __UNKNOWN__ __UNKNOWN__ 3 17053499 17053499 __UNKNOWN__ Silent SNP A A G rs4602367 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:17053499A>G ENST00000418129.2 + 2 2748 c.2283A>G c.(2281-2283)ggA>ggG p.G761G PLCL2_ENST00000396755.2_Silent_p.G761G|PLCL2_ENST00000432376.1_Silent_p.G761G NM_001144382.1 NP_001137854.1 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 887 C2. {ECO:0000255|PROSITE- ProRule:PRU00041}. NA B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228) cytoplasm (GO:0005737) calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871) breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 GAGGAGGAGGAAAGCCTCATA 0.478 NA G||| 3116 0.622204 0.674 0.5821 5008 , , NA 17772 0.626 NA 0.5338 False NA ,,, NA NA NA 2504 0.6677 NA NA NA NA 0 G , 2794,1612 496.5+/-363.6 866,1062,275 96 101 99 2665,2283 3.9 1 3 dbSNP_111 99 4537,4063 557.6+/-387.1 1208,2121,971 yes coding-synonymous,coding-synonymous PLCL2 NM_001144382.1,NM_015184.5 , 2074,3183,1246 GG,GA,AA 47.2442,36.5865,43.6337 , 887/1128,761/1002 17053499 7331,5675 2203 4300 6503 SO:0001819 synonymous_variant AB029015 CCDS33713.1, CCDS74911.1 3p25.3-p25.1 2008-03-18 2002-02-18 2002-02-22 ENSG00000154822 ENSG00000154822 23228 9064 protein-coding gene gene with protein product 614276 phospholipase C, epsilon 2 PLCE2 NA 10470851 Standard NM_015184 NA Approved KIAA1092 uc011awd.2 Q9UPR0 OTTHUMG00000155467 ENST00000418129.2:c.2283A>G chr3.hg19:g.17053499A>G NA A8K5V4|Q8N498|Q9H8L0|Q9UFP9 hg19 CCDS33713.1 0.02 11.733103 AGGxAAG COVERED 1266 0.5796703296703297 330 0.6707317073170732 182 0.5027624309392266 351 0.6136363636363636 403 0.5316622691292876 G 9.466 1.094255 0.20471 0.634135 0.527558 ENSG00000154822 ENST00000419842 . . . 5.74 3.92 0.45320 . . . . . T 0.00012 0.0000 . . . 0.09310 P 1.0 . . . . . . T 0.43048 -0.9415 3 . . . . 7.7303 0.28783 0.1332:0.2531:0.6137:0.0 rs4602367;rs58093973;rs4602367 . . . G 505 . . E + 2 0 PLCL2 17028503 0.997000 0.39634 1.000000 0.80357 0.967000 0.64934 0.418000 0.21230 0.352000 0.24053 -0.320000 0.08662 GAA NOVEL PLCL2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000340250.3 2 13.539308 KEEP 0 0 0 45 1415 AA 1 1 0 + 18 60 670 1 0 46.110466 279 60 9897 418 ENST00000418129.2 0.060606 1 PLCL2 23228 __UNKNOWN__ __UNKNOWN__ 3 17077268 17077268 __UNKNOWN__ Intron SNP C C T rs17272796 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:17077268C>T ENST00000418129.2 + 4 3105 PLCL2_ENST00000396755.2_Intron|PLCL2_ENST00000432376.1_Intron NM_001144382.1 NP_001137854.1 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 NA NA B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228) cytoplasm (GO:0005737) calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871) breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 TTCTCTAATACGAGTTGAGGT 0.433 NA c||| 3173 0.633586 0.6997 0.5922 5008 , , NA 18233 0.627 NA 0.5358 False NA ,,, NA NA NA 2504 0.681 NA NA NA NA 0 T , 1135,617 350,435,91 1287 1116 1168 , -7.1 0 3 dbSNP_123 1168 2110,1872 557,996,438 yes intron,intron PLCL2 NM_001144382.1,NM_015184.5 , 907,1431,529 TT,TC,CC 47.0116,35.2169,43.4077 , , 17077268 3245,2489 876 1991 2867 SO:0001627 intron_variant AB029015 CCDS33713.1, CCDS74911.1 3p25.3-p25.1 2008-03-18 2002-02-18 2002-02-22 ENSG00000154822 ENSG00000154822 23228 9064 protein-coding gene gene with protein product 614276 phospholipase C, epsilon 2 PLCE2 NA 10470851 Standard NM_015184 NA Approved KIAA1092 uc011awd.2 Q9UPR0 OTTHUMG00000155467 ENST00000418129.2:c.2641-7098C>T chr3.hg19:g.17077268C>T NA A8K5V4|Q8N498|Q9H8L0|Q9UFP9 hg19 CCDS33713.1 0.02 8.726849 ATAxGAG COVERED NOVEL PLCL2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000340250.3 1 7.357653 KEEP 0 1 30 35 1190 CC 0.999999 0.999999 0 + 9 60 332 0 0 21.42246 198 60 7093 276 ENST00000418129.2 0.043478 1 AC144521.1 0 __UNKNOWN__ __UNKNOWN__ 3 18580231 18580231 __UNKNOWN__ RNA SNP G G A rs17044591 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:18580231G>A ENST00000595865.1 + 0 364 AC144521.1_ENST00000595250.1_RNA|AC144521.1_ENST00000596152.1_RNA|AC144521.1_ENST00000595388.1_RNA|AC144521.1_ENST00000456253.2_RNA|AC144521.1_ENST00000599762.1_RNA|AC144521.1_ENST00000596307.1_RNA|AC144521.1_ENST00000598390.1_RNA|AC144521.1_ENST00000600177.1_RNA|AC144521.1_ENST00000596139.1_RNA NA NA NA TGACCCCGAGGAGACAGTGAA 0.517 NA G||| 864 0.172524 0.1475 0.2075 5008 , , NA 18618 0.13 NA 0.1909 False NA ,,, NA NA NA 2504 0.2065 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000595865.1: chr3.hg19:g.18580231G>A NA hg19 0.02 4.172716 GAGxAGA COVERED NOVEL AC144521.1-009 KNOWN basic antisense NA processed_transcript OTTHUMT00000461234.2 1 5.11664 KEEP 0 0 0 17 596 GG 0.999366 0.999344 0 + 6 60 207 0 0 13.631673 97 60 3657 151 ENST00000595865.1 0.058252 0.999978 KAT2B 8850 __UNKNOWN__ __UNKNOWN__ 3 20082314 20082314 __UNKNOWN__ Intron SNP G G T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:20082314G>T ENST00000263754.4 + 1 758 KAT2B_ENST00000426228.1_Intron NM_003884.4 NP_003875.3 Q92831 KAT2B_HUMAN K(lysine) acetyltransferase 2B NA NA cell cycle arrest (GO:0007050)|cellular response to insulin stimulus (GO:0032869)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|histone H3-K9 acetylation (GO:0043970)|internal peptidyl-lysine acetylation (GO:0018393)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|Notch signaling pathway (GO:0007219)|peptidyl-lysine acetylation (GO:0018394)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein acetylation (GO:0006473)|regulation of protein ADP-ribosylation (GO:0010835)|rhythmic process (GO:0048511)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032) A band (GO:0031672)|actomyosin (GO:0042641)|Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|I band (GO:0031674)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125) acetyltransferase activity (GO:0016407)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|histone acetyltransferase activity (GO:0004402)|histone deacetylase binding (GO:0042826)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 40 GGTGCTAGGGGCCCAGCCCGC 0.726 NA NA NA NA NA NA NA NA NA NA NA 0 8 10 9 NA NA 3 NA 20082314 1966 3935 5901 SO:0001627 intron_variant U57316 CCDS2634.1 3p24 2011-07-01 2008-07-04 2008-07-04 ENSG00000114166 ENSG00000114166 8850 Chromatin-modifying enzymes / K-acetyltransferases 8638 protein-coding gene gene with protein product 602303 p300/CBP-associated factor PCAF NA 8684459, 9722949 Standard NM_003884 NM_003884 NA Approved P/CAF, GCN5, GCN5L uc003cbq.3 Q92831 OTTHUMG00000130481 ENST00000263754.4:c.303+42G>T chr3.hg19:g.20082314G>T NA Q6NSK1 hg19 CCDS2634.1 0.02 0.64478 GGGxCCC COVERED NOVEL KAT2B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252880.1 0 8.218685 KEEP 0 6 85 59 1726 GG 1 0.999804 0 + 11 60 162 0 0 7.670763 77 60 2062 193 ENST00000263754.4 0.125 0.999804 SGOL1 151648 __UNKNOWN__ __UNKNOWN__ 3 20211090 20211090 __UNKNOWN__ 3'UTR SNP T T C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:20211090T>C ENST00000442720.1 - 0 2148 SGOL1_ENST00000306698.2_Intron|SGOL1_ENST00000452020.1_Intron|SGOL1_ENST00000263753.4_Intron|SGOL1_ENST00000419233.2_Intron|SGOL1_ENST00000421451.1_Intron|SGOL1_ENST00000383774.1_Intron|SGOL1_ENST00000425061.1_Intron|SGOL1_ENST00000443724.1_Intron NM_001012413.2|NM_001199255.1 NP_001012413.1|NP_001186184.1 Q5FBB7 SGOL1_HUMAN shugoshin-like 1 (S. pombe) NA NA attachment of spindle microtubules to kinetochore (GO:0008608)|centriole-centriole cohesion (GO:0010457)|chromosome segregation (GO:0007059)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067) centrosome (GO:0005813)|chromosome, centromeric region (GO:0000775)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)|spindle pole (GO:0000922) kinase binding (GO:0019900) kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2) 14 TAATTCGCTTTCATTGGTTGG 0.289 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC001339 CCDS2635.1, CCDS33716.1, CCDS46771.1, CCDS46772.1, CCDS46773.1, CCDS46774.1, CCDS56243.1 3p24.3 2005-07-27 ENSG00000129810 ENSG00000129810 151648 25088 protein-coding gene gene with protein product 609168 NA 12747765 Standard NM_138484 NM_001199251 NA Approved NY-BR-85 uc003cbu.3 Q5FBB7 OTTHUMG00000130479 ENST00000442720.1:c.*1106A>G chr3.hg19:g.20211090T>C NA Q588H5|Q5FBB4|Q5FBB5|Q5FBB6|Q5FBB8|Q8N579|Q8WVL0|Q9BVA8|Q9H275 hg19 CCDS46772.1 0.02 6.601616 CTTxCAT COVERED NOVEL SGOL1-012 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000340501.1 1 10.230769 KEEP 0 0 0 34 1068 TT 0.999998 0.999998 0 - 6 60 224 0 0 13.872951 172 60 6170 256 ENST00000442720.1 0.033708 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 21348337 21348337 __UNKNOWN__ IGR SNP G G A rs59824893 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:21348337G>A NA NA AC104441.1 (168504 upstream) : AC104183.1 (81687 downstream) NA NA NA taggccgggcgcagtggctca 0.463 NA G||| 817 0.163139 0.0144 0.0677 5008 , , NA 16735 0.4633 NA 0.1233 False NA ,,, NA NA NA 2504 0.1636 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.21348337G>A NA hg19 0.02 -0.043865 GGCxCAG UNCOVERED NOVEL 0 1 2.407643 KEEP 2 0 0 8 276 GG 0 0 0 4 60 146 0 0 15.421876 1 60 32 18 0.8 0.024074 ZNF385D 79750 __UNKNOWN__ __UNKNOWN__ 3 21461900 21461900 __UNKNOWN__ 3'UTR SNP G G C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:21461900G>C ENST00000281523.2 - 0 2512 NM_024697.2 NP_078973.1 Q9H6B1 Z385D_HUMAN zinc finger protein 385D NA NA nucleus (GO:0005634) nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270) NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4) 46 ACACTTCCCTGTTTCCAGCAA 0.363 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC007212 CCDS2636.1 3p24.3 2012-10-05 2007-12-06 2007-12-06 ENSG00000151789 ENSG00000151789 79750 26191 protein-coding gene gene with protein product zinc finger protein 659 ZNF659 NA 12477932 Standard NM_024697 NM_024697 NA Approved FLJ22419 uc003cce.3 Q9H6B1 OTTHUMG00000130484 ENST00000281523.2:c.*806C>G chr3.hg19:g.21461900G>C NA hg19 CCDS2636.1 0.02 9.162256 CCTxTTT COVERED NOVEL ZNF385D-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252884.1 2 5.718616 KEEP 0 0 0 19 665 GG 0.99986 0.99986 0 - 14 60 535 0 0 37.086865 223 60 8463 299 ENST00000281523.2 0.059072 1 UBE2E2 7325 __UNKNOWN__ __UNKNOWN__ 3 23633010 23633010 __UNKNOWN__ 3'UTR SNP A A G rs62256989 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:23633010A>G ENST00000396703.1 + 0 2474 NM_152653.3 NP_689866.1 Q96LR5 UB2E2_HUMAN ubiquitin-conjugating enzyme E2E 2 NA NA ISG15-protein conjugation (GO:0032020)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534) ATP binding (GO:0005524)|ISG15 ligase activity (GO:0042296)|ubiquitin-protein transferase activity (GO:0004842) endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(2) 10 ATTTAAaaacatttctcagca 0.343 NA A||| 1413 0.282149 0.1868 0.3862 5008 , , NA 17453 0.3611 NA 0.2744 False NA ,,, NA NA NA 2504 0.2638 NA NA NA GBM(85;1941 2083 9456) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK057886 CCDS2637.1 3p24.2 2011-05-19 2011-05-19 ENSG00000182247 ENSG00000182247 7325 Ubiquitin-conjugating enzymes E2 12478 protein-coding gene gene with protein product 602163 ubiquitin-conjugating enzyme E2E 2 (homologous to yeast UBC4/5), ubiquitin-conjugating enzyme E2E 2 (UBC4/5 homolog, yeast) NA 9371400 Standard NM_152653 NM_152653 NA Approved UbcH8, FLJ25157 uc003ccg.2 Q96LR5 OTTHUMG00000130482 ENST00000396703.1:c.*1688A>G chr3.hg19:g.23633010A>G NA hg19 CCDS2637.1 0.02 3.844792 AACxTTT COVERED NOVEL UBE2E2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252881.2 2 10.531419 KEEP 0 0 0 35 1102 AA 0.999999 0.999998 0 + 6 60 210 0 0 13.329497 123 60 4526 206 ENST00000396703.1 0.046512 1 NR1D2 9975 __UNKNOWN__ __UNKNOWN__ 3 24006717 24006717 __UNKNOWN__ Intron SNP G G T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:24006717G>T ENST00000312521.4 + 6 1651 NR1D2_ENST00000492552.1_Intron NM_001145425.1|NM_005126.4 NP_001138897.1|NP_005117 Q14995 NR1D2_HUMAN nuclear receptor subfamily 1, group D, member 2 NA NA gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lipid homeostasis (GO:0055088)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of inflammatory response (GO:0050727)|regulation of lipid metabolic process (GO:0019216)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367) nucleoplasm (GO:0005654)|nucleus (GO:0005634) core promoter sequence-specific DNA binding (GO:0001046)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270) NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 22 TTTCATGGATGTTTTAAttct 0.398 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC045613 CCDS33718.1 3p24.1 2013-01-16 ENSG00000174738 ENSG00000174738 9975 Nuclear hormone receptors 7963 protein-coding gene gene with protein product 602304 NA 7997240, 10198169 Standard NM_005126 NA Approved BD73, RVR, EAR-1r, HZF2, Hs.37288 uc003ccs.2 Q14995 OTTHUMG00000155659 ENST00000312521.4:c.1332+64G>T chr3.hg19:g.24006717G>T NA B2R8Q3|O00402|Q86XD4 hg19 CCDS33718.1 0.02 1.588007 GATxTTT COVERED NOVEL NR1D2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000341017.3 6 6.662632 KEEP 0 2 10 26 873 GG 0.999997 0.99623 0 + 9 60 152 0 0 8.254227 59 60 2047 139 ENST00000312521.4 0.132353 0.996233 THRB 7068 __UNKNOWN__ __UNKNOWN__ 3 24270263 24270263 __UNKNOWN__ Intron SNP G G C rs7642896 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:24270263G>C ENST00000356447.4 - 3 307 THRB_ENST00000416420.1_Intron|THRB_ENST00000396671.2_Intron NM_000461.4|NM_001128177.1 NP_000452.2|NP_001121649.1 P10828 THB_HUMAN thyroid hormone receptor, beta NA NA female courtship behavior (GO:0008050)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of female receptivity (GO:0007621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|sensory perception of sound (GO:0007605)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|Type I pneumocyte differentiation (GO:0060509) extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270) central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3) 19 Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583) ATCAGAAGAAGATGGAAGTAC 0.353 NA C||| 1440 0.28754 0.5628 0.1412 5008 , , NA 18258 0.3671 NA 0.0626 False NA ,,, NA NA NA 2504 0.1687 NA NA NA Melanoma(21;896 1043 15021 37958) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS2641.1 3p24.2 2013-01-16 2011-05-19 ENSG00000151090 ENSG00000151090 7068 Nuclear hormone receptors 11799 protein-coding gene gene with protein product avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, oncogene ERBA2, generalized resistance to thyroid hormone, thyroid hormone receptor beta 1 190160 thyroid hormone receptor, beta (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2), pituitary resistance to thyroid hormone, thyroid hormone receptor, beta (erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, avian) ERBA2, PRTH NA 1973914, 8040303 Standard NM_000461 NM_000461 NA Approved THRB1, THRB2, NR1A2, THR1, ERBA-BETA, GRTH uc003ccy.4 P10828 OTTHUMG00000130478 ENST00000356447.4:c.22+165C>G chr3.hg19:g.24270263G>C NA B3KU79|P37243|Q13986|Q3KP35|Q6WGL2|Q9UD41 hg19 CCDS2641.1 0.02 4.373285 GAAxATG COVERED NOVEL THRB-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000252877.3 1 3.009709 KEEP 0 0 0 10 353 GG 0.992708 0.992708 0 - 10 60 372 0 0 26.427072 127 60 4848 165 ENST00000356447.4 0.072993 1 RARB 5915 __UNKNOWN__ __UNKNOWN__ 3 25502869 25502869 __UNKNOWN__ Intron SNP T T G rs2067964 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:25502869T>G ENST00000330688.4 + 2 727 RARB_ENST00000462272.1_Intron|RARB_ENST00000458646.1_Intron|RARB_ENST00000437042.2_Intron|RARB_ENST00000404969.1_Intron NM_000965.3 NP_000956.2 P10826 RARB_HUMAN retinoic acid receptor, beta NA NA embryonic digestive tract development (GO:0048566)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|retinal pigment epithelium development (GO:0003406)|signal transduction (GO:0007165)|striatum development (GO:0021756)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012) cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA binding (GO:0003677)|drug binding (GO:0008144)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270) breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 28 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tamibarotene(DB04942)|Tazarotene(DB00799) TGAACTCTCATTCTCCATGTA 0.468 NA T||| 712 0.142173 0.1929 0.0821 5008 , , NA 17844 0.125 NA 0.1064 False NA ,,, NA NA NA 2504 0.1708 NA NA NA NA 0 T , 839,3567 332.5+/-302.5 96,647,1460 75 74 74 , -2.3 0 3 dbSNP_96 74 925,7675 204.9+/-247.5 48,829,3423 no intron,intron RARB NM_000965.3,NM_016152.3 , 144,1476,4883 GG,GT,TT 10.7558,19.0422,13.563 , , 25502869 1764,11242 2203 4300 6503 SO:0001627 intron_variant Y00291 CCDS2642.1, CCDS46775.1 3p24 2013-01-16 ENSG00000077092 ENSG00000077092 5915 Nuclear hormone receptors 9865 protein-coding gene gene with protein product 180220 NA Standard NM_000965, NM_016152 NM_016152 NA Approved HAP, NR1B2, RRB2 uc003cdh.3 P10826 OTTHUMG00000130480 ENST00000330688.4:c.306+37T>G chr3.hg19:g.25502869T>G NA P12891|Q00989|Q15298|Q9UN48 hg19 CCDS2642.1 0.02 4.12146 TCAxTCT COVERED NOVEL RARB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000340847.1 0 12.337958 KEEP 0 0 0 41 1320 TT 1 1 0 + 8 60 295 0 0 19.930216 135 60 4846 215 ENST00000330688.4 0.055944 1 RARB 5915 __UNKNOWN__ __UNKNOWN__ 3 25542571 25542571 __UNKNOWN__ Intron SNP G G A rs2116703 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:25542571G>A ENST00000330688.4 + 3 727 RARB_ENST00000462272.1_Intron|RARB_ENST00000458646.1_Intron|RARB_ENST00000437042.2_Intron|RARB_ENST00000404969.1_Intron NM_000965.3 NP_000956.2 P10826 RARB_HUMAN retinoic acid receptor, beta NA NA embryonic digestive tract development (GO:0048566)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|retinal pigment epithelium development (GO:0003406)|signal transduction (GO:0007165)|striatum development (GO:0021756)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012) cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA binding (GO:0003677)|drug binding (GO:0008144)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270) breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 28 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tamibarotene(DB04942)|Tazarotene(DB00799) CCATCACTTCGTTACTCAAAA 0.353 NA G||| 1120 0.223642 0.32 0.1988 5008 , , NA 19898 0.1845 NA 0.174 False NA ,,, NA NA NA 2504 0.2025 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Y00291 CCDS2642.1, CCDS46775.1 3p24 2013-01-16 ENSG00000077092 ENSG00000077092 5915 Nuclear hormone receptors 9865 protein-coding gene gene with protein product 180220 NA Standard NM_000965, NM_016152 NM_016152 NA Approved HAP, NR1B2, RRB2 uc003cdh.3 P10826 OTTHUMG00000130480 ENST00000330688.4:c.307-102G>A chr3.hg19:g.25542571G>A NA P12891|Q00989|Q15298|Q9UN48 hg19 CCDS2642.1 0.02 12.41418 TTCxTTA COVERED NOVEL RARB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000340847.1 1 12.035293 KEEP 0 0 0 40 1258 GG 1 1 0 + 11 60 410 0 0 25.448535 310 60 10095 377 ENST00000330688.4 0.034268 1 TOP2B 7155 __UNKNOWN__ __UNKNOWN__ 3 25646268 25646268 __UNKNOWN__ Missense_Mutation SNP G G A rs61751634 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:25646268G>A ENST00000435706.2 - 33 4658 c.4457C>T c.(4456-4458)aCg>aTg p.T1486M TOP2B_ENST00000540199.1_Missense_Mutation_p.T343M|TOP2B_ENST00000264331.4_Missense_Mutation_p.T1491M|TOP2B_ENST00000542520.1_Missense_Mutation_p.T343M Q02880 TOP2B_HUMAN topoisomerase (DNA) II beta 180kDa 1491 NA ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819) cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080) breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1) 36 Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773) AGCAGCTACCGTTTTACTTGG 0.294 NA G||| 216 0.043131 0.0015 0.0014 5008 , , NA 17609 0.1319 NA 0.0 False NA ,,, NA NA NA 2504 0.0818 NA NA NA NA 0 G MET/THR 12,3642 0,12,1815 141 132 135 4457 5.5 1 3 dbSNP_129 135 1,8153 0,1,4076 yes missense TOP2B NM_001068.2 81 0,13,5891 AA,AG,GG 0.0123,0.3284,0.1101 probably-damaging 1486/1622 25646268 13,11795 1827 4077 5904 SO:0001583 missense X68060 CCDS46776.1 3p24.2 2012-08-30 2002-08-29 ENSG00000077097 ENSG00000077097 7155 5.99.1.3 11990 protein-coding gene gene with protein product 126431 topoisomerase (DNA) II beta (180kD) NA 1309226, 1333583 Standard NM_001068 NA Approved uc003cdj.3 Q02880 OTTHUMG00000155596 ENST00000435706.2:c.4457C>T chr3.hg19:g.25646268G>A ENSP00000396704:p.Thr1486Met NA Q13600|Q9UMG8|Q9UQP8 hg19 CCDS46776.1 0.02 2.08037 ACCxTTT COVERED 71 0.03250915750915751 0 0.0 0 0.0 71 0.12412587412587413 0 0.0 G 16.41 3.115219 0.56505 0.003284 1.23E-4 ENSG00000077097 ENST00000542520;ENST00000435706;ENST00000264331;ENST00000540199 T;T;T;T 0.46451 0.87;0.91;0.91;0.87 5.48 5.48 0.80851 . 0.058097 0.64402 D 0.000002 T 0.00496 0.0016 N 0.08118 0 0.24224 P 0.99542123 D;D 0.59357 0.975;0.985 B;P 0.49387 0.335;0.609 T 0.06789 -1.0807 9 0.54805 T 0.06 -16.2139 17.9046 0.88914 0.0:0.0:1.0:0.0 rs61751634 1491;1486 Q02880;Q02880-2 TOP2B_HUMAN;. M 343;1486;1491;343 ENSP00000446023:T343M;ENSP00000396704:T1486M;ENSP00000264331:T1491M;ENSP00000437352:T343M ENSP00000264331:T1491M T - 2 0 TOP2B 25621272 1.000000 0.71417 1.000000 0.80357 0.988000 0.76386 6.219000 0.72231 2.722000 0.93159 0.563000 0.77884 ACG NOVEL TOP2B-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000340821.1 0 11.435976 KEEP 0 0 0 38 1278 GG 1 0.999881 0 - 7 60 259 0 0 18.49084 85 60 3001 169 ENST00000435706.2 0.076087 0.999881 TOP2B 7155 __UNKNOWN__ __UNKNOWN__ 3 25666156 25666156 __UNKNOWN__ Intron SNP C C T rs2293787 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:25666156C>T ENST00000435706.2 - 19 2533 TOP2B_ENST00000264331.4_Intron Q02880 TOP2B_HUMAN topoisomerase (DNA) II beta 180kDa NA NA ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819) cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080) breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1) 36 Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773) TCAATTGATTCCAATCTTAAT 0.333 NA C||| 640 0.127796 0.0045 0.17 5008 , , NA 17369 0.1786 NA 0.171 False NA ,,, NA NA NA 2504 0.1677 NA NA NA NA 0 C 137,3575 2,133,1721 61 60 60 5.4 0.1 3 dbSNP_100 60 1372,6854 114,1144,2855 no intron TOP2B NM_001068.2 116,1277,4576 TT,TC,CC 16.6788,3.6907,12.6403 25666156 1509,10429 1856 4113 5969 SO:0001627 intron_variant X68060 CCDS46776.1 3p24.2 2012-08-30 2002-08-29 ENSG00000077097 ENSG00000077097 7155 5.99.1.3 11990 protein-coding gene gene with protein product 126431 topoisomerase (DNA) II beta (180kD) NA 1309226, 1333583 Standard NM_001068 NA Approved uc003cdj.3 Q02880 OTTHUMG00000155596 ENST00000435706.2:c.2331+16G>A chr3.hg19:g.25666156C>T NA Q13600|Q9UMG8|Q9UQP8 hg19 CCDS46776.1 0.02 8.759575 ATTxCAA COVERED NOVEL TOP2B-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000340821.1 0 15.347973 KEEP 0 0 0 51 1750 CC 1 1 0 - 14 60 508 0 0 34.659458 213 60 7950 332 ENST00000435706.2 0.061674 1 TOP2B 7155 __UNKNOWN__ __UNKNOWN__ 3 25671778 25671778 __UNKNOWN__ Intron SNP C C T rs3736605 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:25671778C>T ENST00000435706.2 - 12 1750 TOP2B_ENST00000264331.4_Intron Q02880 TOP2B_HUMAN topoisomerase (DNA) II beta 180kDa NA NA ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819) cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080) breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1) 36 Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773) tgtgtatacacatatatatac 0.338 NA T||| 1669 0.333267 0.3911 0.3617 5008 , , NA 15718 0.3085 NA 0.2724 False NA ,,, NA NA NA 2504 0.3231 NA NA NA NA 0 T 1102,1918 194,714,602 49 45 46 -9.6 0 3 dbSNP_107 46 1425,5247 148,1129,2059 no intron TOP2B NM_001068.2 342,1843,2661 TT,TC,CC 21.3579,36.4901,26.073 25671778 2527,7165 1510 3336 4846 SO:0001627 intron_variant X68060 CCDS46776.1 3p24.2 2012-08-30 2002-08-29 ENSG00000077097 ENSG00000077097 7155 5.99.1.3 11990 protein-coding gene gene with protein product 126431 topoisomerase (DNA) II beta (180kD) NA 1309226, 1333583 Standard NM_001068 NA Approved uc003cdj.3 Q02880 OTTHUMG00000155596 ENST00000435706.2:c.1548+24G>A chr3.hg19:g.25671778C>T NA Q13600|Q9UMG8|Q9UQP8 hg19 CCDS46776.1 0.02 10.662164 ACAxATA COVERED NOVEL TOP2B-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000340821.1 0 10.232266 KEEP 0 0 0 34 1168 CC 0.999998 0.999998 0 - 15 60 559 0 0 37.879409 256 60 9561 333 ENST00000435706.2 0.055351 1 TOP2B 7155 __UNKNOWN__ __UNKNOWN__ 3 25674091 25674091 __UNKNOWN__ Intron SNP C C A rs3736601 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:25674091C>A ENST00000435706.2 - 10 1315 TOP2B_ENST00000264331.4_Intron Q02880 TOP2B_HUMAN topoisomerase (DNA) II beta 180kDa NA NA ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819) cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080) breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1) 36 Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773) AAAACATACCCAAAAAAGTCA 0.289 NA A||| 1421 0.283746 0.2194 0.3415 5008 , , NA 16768 0.3085 NA 0.2763 False NA ,,, NA NA NA 2504 0.3119 NA NA NA NA 0 A 848,2736 96,656,1040 47 44 45 -1.5 0 3 dbSNP_107 45 2035,6083 255,1525,2279 no intron TOP2B NM_001068.2 351,2181,3319 AA,AC,CC 25.0678,23.6607,24.6368 25674091 2883,8819 1792 4059 5851 SO:0001627 intron_variant X68060 CCDS46776.1 3p24.2 2012-08-30 2002-08-29 ENSG00000077097 ENSG00000077097 7155 5.99.1.3 11990 protein-coding gene gene with protein product 126431 topoisomerase (DNA) II beta (180kD) NA 1309226, 1333583 Standard NM_001068 NA Approved uc003cdj.3 Q02880 OTTHUMG00000155596 ENST00000435706.2:c.1114-17G>T chr3.hg19:g.25674091C>A NA Q13600|Q9UMG8|Q9UQP8 hg19 CCDS46776.1 0.02 2.010137 ACCxAAA COVERED NOVEL TOP2B-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000340821.1 1 5.718611 KEEP 0 0 0 19 664 CC 0.99986 0.999822 0 - 9 60 332 0 1 24.357419 91 60 3331 129 ENST00000435706.2 0.09 0.999962 TOP2B 7155 __UNKNOWN__ __UNKNOWN__ 3 25678926 25678926 __UNKNOWN__ Intron SNP T T C rs2272430 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:25678926T>C ENST00000435706.2 - 6 728 TOP2B_ENST00000264331.4_Intron Q02880 TOP2B_HUMAN topoisomerase (DNA) II beta 180kDa NA NA ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819) cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080) breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1) 36 Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773) CAATCACCAATTGAAGATTCC 0.289 NA T||| 79 0.0157748 0.0 0.0 5008 , , NA 16157 0.0784 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X68060 CCDS46776.1 3p24.2 2012-08-30 2002-08-29 ENSG00000077097 ENSG00000077097 7155 5.99.1.3 11990 protein-coding gene gene with protein product 126431 topoisomerase (DNA) II beta (180kD) NA 1309226, 1333583 Standard NM_001068 NA Approved uc003cdj.3 Q02880 OTTHUMG00000155596 ENST00000435706.2:c.527-123A>G chr3.hg19:g.25678926T>C NA Q13600|Q9UMG8|Q9UQP8 hg19 CCDS46776.1 0.02 1.824786 CAAxTGA COVERED NOVEL TOP2B-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000340821.1 0 6.921303 KEEP 0 0 0 23 744 TT 0.999892 0.999618 0 - 4 60 147 0 0 9.564597 83 60 2933 127 ENST00000435706.2 0.045977 0.999726 TOP2B 7155 __UNKNOWN__ __UNKNOWN__ 3 25679738 25679738 __UNKNOWN__ Silent SNP T T C rs60422476 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:25679738T>C ENST00000435706.2 - 5 645 c.444A>G c.(442-444)gtA>gtG p.V148V TOP2B_ENST00000264331.4_Silent_p.V153V Q02880 TOP2B_HUMAN topoisomerase (DNA) II beta 180kDa 153 NA ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819) cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080) breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1) 36 Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773) AAACTTTCTCTACCTTGTGTT 0.279 NA T||| 1682 0.335863 0.3933 0.3689 5008 , , NA 12520 0.3095 NA 0.2763 False NA ,,, NA NA NA 2504 0.3231 NA NA NA NA 0 T 1450,2128 290,870,629 60 57 58 444 3.8 1 3 dbSNP_129 58 2011,6063 255,1501,2281 no coding-synonymous TOP2B NM_001068.2 545,2371,2910 CC,CT,TT 24.9071,40.5254,29.7031 148/1622 25679738 3461,8191 1789 4037 5826 SO:0001819 synonymous_variant X68060 CCDS46776.1 3p24.2 2012-08-30 2002-08-29 ENSG00000077097 ENSG00000077097 7155 5.99.1.3 11990 protein-coding gene gene with protein product 126431 topoisomerase (DNA) II beta (180kD) NA 1309226, 1333583 Standard NM_001068 NA Approved uc003cdj.3 Q02880 OTTHUMG00000155596 ENST00000435706.2:c.444A>G chr3.hg19:g.25679738T>C NA Q13600|Q9UMG8|Q9UQP8 hg19 CCDS46776.1 0.02 4.159401 CTCxACC COVERED NOVEL TOP2B-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000340821.1 3 14.741128 KEEP 0 0 0 49 1497 TT 1 0.999997 0 - 5 60 185 0 0 11.939728 111 60 4023 219 ENST00000435706.2 0.043103 0.999997 SLC4A7 9497 __UNKNOWN__ __UNKNOWN__ 3 27414338 27414338 __UNKNOWN__ 3'UTR SNP T T A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:27414338T>A ENST00000295736.5 - 0 7632 SLC4A7_ENST00000428386.1_3'UTR NM_003615.4 NP_003606.3 Q9Y6M7 S4A7_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 7 NA NA auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085) apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510) NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1) 38 Sodium bicarbonate(DB01390) CAGTAGAGGCTTATACTTCAT 0.249 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB012130 CCDS33721.1, CCDS58819.1, CCDS58820.1 3p24.1 2013-05-22 ENSG00000033867 ENSG00000033867 9497 Solute carriers 11033 protein-coding gene gene with protein product 603353 SLC4A6 NA 10198178, 9610397 Standard NM_003615 NM_003615 NA Approved NBC3, SBC2 uc003cdv.4 Q9Y6M7 OTTHUMG00000155679 ENST00000295736.5:c.*3917A>T chr3.hg19:g.27414338T>A NA A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9 hg19 CCDS33721.1 0.02 8.225742 GGCxTAT COVERED NOVEL SLC4A7-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000341230.2 2 14.745702 KEEP 0 0 0 49 1605 TT 1 1 0 - 9 60 331 0 0 20.885176 222 60 8090 346 ENST00000295736.5 0.038961 1 RBMS3 27303 __UNKNOWN__ __UNKNOWN__ 3 29322711 29322711 __UNKNOWN__ 5'UTR SNP C C T rs7609889 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:29322711C>T ENST00000434693.2 + 0 239 RBMS3-AS3_ENST00000413430.1_RNA NM_001003793.2 NP_001003793.1 Q6XE24 RBMS3_HUMAN RNA binding motif, single stranded interacting protein 3 NA NA positive regulation of translation (GO:0045727) cytoplasm (GO:0005737) mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166) breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 11 Ovarian(412;0.0956) ttctctctctcttttttcttt 0.313 NA N||| 1868 0.373003 0.3343 0.3112 5008 , , NA 14122 0.4683 NA 0.329 False NA ,,, NA NA NA 2504 0.4162 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF023259 CCDS33724.1, CCDS33725.1, CCDS33726.1, CCDS54557.1, CCDS54558.1 3p24-p23 2013-02-12 2010-04-20 ENSG00000144642 ENSG00000144642 27303 RNA binding motif (RRM) containing 13427 protein-coding gene gene with protein product RNA-binding protein 605786 RNA binding motif, single stranded interacting protein NA 10675610 Standard NM_001003792 NM_001003793 NA Approved uc003cel.3 Q6XE24 OTTHUMG00000155699 ENST00000434693.2:c.-462C>T chr3.hg19:g.29322711C>T NA A8K9S4|B7ZL17|G5E9J9|O75876|Q17RI0|Q6XE23 hg19 0.02 1.73393 TCTxTTT COVERED NOVEL RBMS3-002 KNOWN basic protein_coding NA protein_coding OTTHUMT00000341298.4 1 12.320656 KEEP 0 0 0 41 1312 CC 1 0.999678 0 + 5 60 169 0 0 11.009498 81 60 3011 144 ENST00000434693.2 0.05814 0.999678 RBMS3 27303 __UNKNOWN__ __UNKNOWN__ 3 29530008 29530008 __UNKNOWN__ Intron SNP C C T rs3773022 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:29530008C>T ENST00000452462.1 + 3 437 RBMS3_ENST00000456853.1_Intron|RBMS3_ENST00000445033.1_Intron|RBMS3_ENST00000383766.2_Intron|RBMS3_ENST00000273139.9_Intron|RBMS3_ENST00000434693.2_Intron|RBMS3_ENST00000383767.2_Intron|RBMS3_ENST00000396583.3_Intron Q6XE24 RBMS3_HUMAN RNA binding motif, single stranded interacting protein 3 NA NA positive regulation of translation (GO:0045727) cytoplasm (GO:0005737) mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166) breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 11 Ovarian(412;0.0956) TAAGGGCATCCGTACCCTGAA 0.393 NA T||| 433 0.0864617 0.1929 0.1167 5008 , , NA 19642 0.0258 NA 0.0288 False NA ,,, NA NA NA 2504 0.0429 NA NA NA NA 0 T ,,,, 724,3682 758.7+/-412.8 57,610,1536 109 108 108 ,,,, -2.8 0 3 dbSNP_107 108 208,8392 810.0+/-407.1 3,202,4095 no intron,intron,intron,intron,intron RBMS3 NM_001003792.2,NM_001003793.2,NM_001177711.1,NM_001177712.1,NM_014483.3 ,,,, 60,812,5631 TT,TC,CC 2.4186,16.4321,7.1659 ,,,, ,,,, 29530008 932,12074 2203 4300 6503 SO:0001627 intron_variant AF023259 CCDS33724.1, CCDS33725.1, CCDS33726.1, CCDS54557.1, CCDS54558.1 3p24-p23 2013-02-12 2010-04-20 ENSG00000144642 ENSG00000144642 27303 RNA binding motif (RRM) containing 13427 protein-coding gene gene with protein product RNA-binding protein 605786 RNA binding motif, single stranded interacting protein NA 10675610 Standard NM_001003792 NM_001003793 NA Approved uc003cel.3 Q6XE24 OTTHUMG00000155699 ENST00000452462.1:c.307+18C>T chr3.hg19:g.29530008C>T NA A8K9S4|B7ZL17|G5E9J9|O75876|Q17RI0|Q6XE23 hg19 CCDS54558.1 0.02 9.154016 ATCxGTA COVERED NOVEL RBMS3-008 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000341303.1 1 13.242095 KEEP 0 0 0 44 1496 CC 1 1 0 + 12 60 420 0 0 27.123077 227 70 8027 336 ENST00000452462.1 0.050209 1 RBMS3 27303 __UNKNOWN__ __UNKNOWN__ 3 29530142 29530142 __UNKNOWN__ Intron SNP A A C rs3773023 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:29530142A>C ENST00000452462.1 + 3 437 RBMS3_ENST00000456853.1_Intron|RBMS3_ENST00000445033.1_Intron|RBMS3_ENST00000383766.2_Intron|RBMS3_ENST00000273139.9_Intron|RBMS3_ENST00000434693.2_Intron|RBMS3_ENST00000383767.2_Intron|RBMS3_ENST00000396583.3_Intron Q6XE24 RBMS3_HUMAN RNA binding motif, single stranded interacting protein 3 NA NA positive regulation of translation (GO:0045727) cytoplasm (GO:0005737) mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166) breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 11 Ovarian(412;0.0956) GATAAGTTGTATTTCTAGTAA 0.323 NA A||| 463 0.0924521 0.2156 0.1167 5008 , , NA 20193 0.0258 NA 0.0288 False NA ,,, NA NA NA 2504 0.0429 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF023259 CCDS33724.1, CCDS33725.1, CCDS33726.1, CCDS54557.1, CCDS54558.1 3p24-p23 2013-02-12 2010-04-20 ENSG00000144642 ENSG00000144642 27303 RNA binding motif (RRM) containing 13427 protein-coding gene gene with protein product RNA-binding protein 605786 RNA binding motif, single stranded interacting protein NA 10675610 Standard NM_001003792 NM_001003793 NA Approved uc003cel.3 Q6XE24 OTTHUMG00000155699 ENST00000452462.1:c.307+152A>C chr3.hg19:g.29530142A>C NA A8K9S4|B7ZL17|G5E9J9|O75876|Q17RI0|Q6XE23 hg19 CCDS54558.1 0.02 4.109128 TGTxTTT COVERED NOVEL RBMS3-008 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000341303.1 0 3.30694 KEEP 0 0 0 11 314 AA 0.993072 0.993072 0 + 6 60 220 0 0 14.246805 127 60 4604 150 ENST00000452462.1 0.045113 1 TGFBR2 7048 __UNKNOWN__ __UNKNOWN__ 3 30686414 30686414 __UNKNOWN__ Intron SNP A A G rs1155705 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:30686414A>G ENST00000295754.5 + 2 645 TGFBR2_ENST00000359013.4_Intron NM_003242.5 NP_003233.4 P37173 TGFR2_HUMAN transforming growth factor, beta receptor II (70/80kDa) NA NA activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060) caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022) ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2) 53 TATGGTAAGCAAGCCTTTTAA 0.418 NA G||| 2068 0.412939 0.3419 0.2968 5008 , , NA 19165 0.7054 NA 0.335 False NA ,,, NA NA NA 2504 0.3701 NA NA NA NA 0 G , 1464,2942 678.7+/-403.6 235,994,974 52 48 49 , -4.4 0 3 dbSNP_87 49 2718,5882 680.7+/-403.7 444,1830,2026 no intron,intron TGFBR2 NM_001024847.2,NM_003242.5 , 679,2824,3000 GG,GA,AA 31.6047,33.2274,32.1544 , , 30686414 4182,8824 2203 4300 6503 SO:0001627 intron_variant CCDS2648.1, CCDS33727.1 3p22 2014-09-17 2002-08-29 ENSG00000163513 ENSG00000163513 7048 11773 protein-coding gene gene with protein product 190182 transforming growth factor, beta receptor II (70-80kD) MFS2 NA 1319842, 15235604 Standard NM_001024847 NA Approved uc003cen.3 P37173 OTTHUMG00000130569 ENST00000295754.5:c.263+7A>G chr3.hg19:g.30686414A>G NA B4DTV5|Q15580|Q6DKT6|Q99474 hg19 CCDS2648.1 0.02 8.029783 AGCxAGC COVERED NOVEL TGFBR2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252994.2 0 4.316321 KEEP 0 3 108 52 1558 AA 1 1 0 + 20 60 739 0 0 53.477478 222 60 7947 332 ENST00000295754.5 0.082645 1 GADL1 339896 __UNKNOWN__ __UNKNOWN__ 3 30903304 30903304 __UNKNOWN__ Intron SNP C C T rs1393745 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:30903304C>T ENST00000282538.5 - 2 188 GADL1_ENST00000454381.3_Intron NM_207359.2 NP_997242.2 Q6ZQY3 GADL1_HUMAN glutamate decarboxylase-like 1 NA NA carboxylic acid metabolic process (GO:0019752) aspartate 1-decarboxylase activity (GO:0004068)|pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782) breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1) 25 TCTAATTACACCACATAACAA 0.383 NA T||| 1305 0.260583 0.2057 0.3084 5008 , , NA 20444 0.4851 NA 0.1511 False NA ,,, NA NA NA 2504 0.182 NA NA NA NA 0 T 266,1118 22,222,448 72 57 62 2.9 0 3 dbSNP_88 62 519,2663 43,433,1115 no intron GADL1 NM_207359.2 65,655,1563 TT,TC,CC 16.3105,19.2197,17.1923 30903304 785,3781 692 1591 2283 SO:0001627 intron_variant AK128643 CCDS2649.2 3p23-p22 2009-01-14 ENSG00000144644 ENSG00000144644 339896 27949 protein-coding gene gene with protein product 615601 NA Standard NM_207359 NM_207359 NA Approved uc003cep.2 Q6ZQY3 OTTHUMG00000130621 ENST00000282538.5:c.38-47G>A chr3.hg19:g.30903304C>T NA hg19 CCDS2649.2 0.02 10.522115 ACAxCAC COVERED NOVEL GADL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253106.2 0 2.543062 KEEP 0 1 33 20 669 CC 0.999869 0.999869 0 - 16 60 545 0 0 35.391362 270 60 9773 319 ENST00000282538.5 0.055944 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 31498041 31498041 __UNKNOWN__ IGR SNP A A G rs118150877 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:31498041A>G NA NA AC099540.1 (60518 upstream) : STT3B (76088 downstream) NA NA NA CTGCACAGCCATGTATCACGT 0.498 NA A||| 73 0.0145767 0.0 0.0 5008 , , NA 14876 0.0625 NA 0.0089 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.31498041A>G NA hg19 0.02 13.387773 GCCxTGT COVERED NOVEL 0 0 16.239706 KEEP 0 0 0 54 1638 AA 1 1 0 12 60 454 0 0 28.666279 323 60 11889 451 0.035821 1 STT3B 201595 __UNKNOWN__ __UNKNOWN__ 3 31677432 31677432 __UNKNOWN__ Intron SNP A A G rs3749408 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:31677432A>G ENST00000295770.2 + 16 2609 NM_178862.1 NP_849193.1 Q8TCJ2 STT3B_HUMAN STT3B, subunit of the oligosaccharyltransferase complex (catalytic) NA NA co-translational protein modification (GO:0043686)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986) integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250) dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579) autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 19 TTTTTTAATCAGTAAGAAACC 0.333 NA A||| 363 0.072484 0.0008 0.0 5008 , , NA 19564 0.3095 NA 0.007 False NA ,,, NA NA NA 2504 0.044 NA NA NA NA 0 A 6,4390 0,6,2192 38 42 40 0.3 0 3 dbSNP_107 40 6,8586 0,6,4290 no intron STT3B NM_178862.1 0,12,6482 GG,GA,AA 0.0698,0.1365,0.0924 31677432 12,12976 2198 4296 6494 SO:0001627 intron_variant AK027789 CCDS2650.1 3p24.1 2013-03-06 2013-03-06 ENSG00000163527 ENSG00000163527 201595 2.4.99.18 30611 protein-coding gene gene with protein product source of immunodominant MHC associated peptides, dolichyl-diphosphooligosaccharide protein glycotransferase 608605 STT3, subunit of the oligosaccharyltransferase complex, homolog B (S. cerevisiae) NA 12887896, 12439619 Standard NM_178862 XM_006713017 NA Approved SIMP, FLJ90106, STT3-B uc011axe.2 Q8TCJ2 OTTHUMG00000130673 ENST00000295770.2:c.2401-44A>G chr3.hg19:g.31677432A>G NA Q96JZ4|Q96KY7 hg19 CCDS2650.1 0.02 3.594751 ATCxGTA COVERED NOVEL STT3B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253166.2 0 2.312584 KEEP 0 1 6 10 314 AA 0.993072 0.993072 0 + 6 60 188 0 0 11.04771 128 60 4561 151 ENST00000295770.2 0.044776 1 STT3B 201595 __UNKNOWN__ __UNKNOWN__ 3 31678420 31678420 __UNKNOWN__ 3'UTR SNP A A G rs76851577 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:31678420A>G ENST00000295770.2 + 0 3554 NM_178862.1 NP_849193.1 Q8TCJ2 STT3B_HUMAN STT3B, subunit of the oligosaccharyltransferase complex (catalytic) NA NA co-translational protein modification (GO:0043686)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986) integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250) dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579) autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 19 CAGGTATCCAAAGTTCATTTT 0.353 NA A||| 438 0.0874601 0.0015 0.0274 5008 , , NA 18650 0.3105 NA 0.0577 False NA ,,, NA NA NA 2504 0.047 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK027789 CCDS2650.1 3p24.1 2013-03-06 2013-03-06 ENSG00000163527 ENSG00000163527 201595 2.4.99.18 30611 protein-coding gene gene with protein product source of immunodominant MHC associated peptides, dolichyl-diphosphooligosaccharide protein glycotransferase 608605 STT3, subunit of the oligosaccharyltransferase complex, homolog B (S. cerevisiae) NA 12887896, 12439619 Standard NM_178862 XM_006713017 NA Approved SIMP, FLJ90106, STT3-B uc011axe.2 Q8TCJ2 OTTHUMG00000130673 ENST00000295770.2:c.*864A>G chr3.hg19:g.31678420A>G NA Q96JZ4|Q96KY7 hg19 CCDS2650.1 0.02 11.693772 CCAxAGT COVERED NOVEL STT3B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253166.2 0 16.833312 KEEP 0 0 0 56 1773 AA 1 1 0 + 14 60 522 0 0 34.530969 276 60 9961 407 ENST00000295770.2 0.048276 1 OSBPL10 114884 __UNKNOWN__ __UNKNOWN__ 3 31701674 31701674 __UNKNOWN__ 3'UTR SNP A A G rs76965939 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:31701674A>G ENST00000396556.2 - 0 4307 NM_017784.4 NP_060254.2 Q9BXB5 OSB10_HUMAN oxysterol binding protein-like 10 NA NA lipid transport (GO:0006869) cholesterol binding (GO:0015485) breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 STAD - Stomach adenocarcinoma(1;0.00406) atacaattgtataggggcaca 0.373 NA A||| 421 0.0840655 0.0008 0.0259 5008 , , NA 17138 0.3105 NA 0.0596 False NA ,,, NA NA NA 2504 0.0297 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF392451 CCDS2651.1, CCDS54559.1 3p23 2013-01-10 ENSG00000144645 ENSG00000144645 114884 Oxysterol binding proteins, Pleckstrin homology (PH) domain containing 16395 protein-coding gene gene with protein product 606738 NA Standard NM_001174060 NA Approved uc021wuu.1 Q9BXB5 OTTHUMG00000130672 ENST00000396556.2:c.*1890T>C chr3.hg19:g.31701674A>G NA B4E212|Q9BTU5 hg19 CCDS2651.1 0.02 4.294614 TGTxTAG COVERED NOVEL OSBPL10-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000253165.2 4 3.610155 KEEP 0 0 0 12 363 AA 0.993634 0.993634 0 - 7 60 274 0 0 18.54224 139 60 4995 189 ENST00000396556.2 0.047945 1 OSBPL10 114884 __UNKNOWN__ __UNKNOWN__ 3 31702921 31702921 __UNKNOWN__ 3'UTR SNP G G A rs3805075 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:31702921G>A ENST00000396556.2 - 0 3060 NM_017784.4 NP_060254.2 Q9BXB5 OSB10_HUMAN oxysterol binding protein-like 10 NA NA lipid transport (GO:0006869) cholesterol binding (GO:0015485) breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 STAD - Stomach adenocarcinoma(1;0.00406) TGTCCCAGAGGTGCTCCATCC 0.498 NA G||| 345 0.0688898 0.0 0.0 5008 , , NA 17689 0.3006 NA 0.0099 False NA ,,, NA NA NA 2504 0.0327 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF392451 CCDS2651.1, CCDS54559.1 3p23 2013-01-10 ENSG00000144645 ENSG00000144645 114884 Oxysterol binding proteins, Pleckstrin homology (PH) domain containing 16395 protein-coding gene gene with protein product 606738 NA Standard NM_001174060 NA Approved uc021wuu.1 Q9BXB5 OTTHUMG00000130672 ENST00000396556.2:c.*643C>T chr3.hg19:g.31702921G>A NA B4E212|Q9BTU5 hg19 CCDS2651.1 0.02 4.052998 GAGxTGC COVERED NOVEL OSBPL10-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000253165.2 1 5.712807 KEEP 0 0 0 19 662 GG 0.99986 0.999859 0 - 8 60 280 0 0 18.82923 120 60 4446 185 ENST00000396556.2 0.0625 1 OSBPL10 114884 __UNKNOWN__ __UNKNOWN__ 3 31705280 31705280 __UNKNOWN__ Intron SNP G G A rs3792554 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:31705280G>A ENST00000396556.2 - 11 2373 OSBPL10_ENST00000438237.2_Intron NM_017784.4 NP_060254.2 Q9BXB5 OSB10_HUMAN oxysterol binding protein-like 10 NA NA lipid transport (GO:0006869) cholesterol binding (GO:0015485) breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 STAD - Stomach adenocarcinoma(1;0.00406) CCAGTCTGCAGTCCCATCGCG 0.458 NA G||| 2929 0.584864 0.9425 0.4236 5008 , , NA 20444 0.6438 NA 0.3688 False NA ,,, NA NA NA 2504 0.3773 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF392451 CCDS2651.1, CCDS54559.1 3p23 2013-01-10 ENSG00000144645 ENSG00000144645 114884 Oxysterol binding proteins, Pleckstrin homology (PH) domain containing 16395 protein-coding gene gene with protein product 606738 NA Standard NM_001174060 NA Approved uc021wuu.1 Q9BXB5 OTTHUMG00000130672 ENST00000396556.2:c.2250+290C>T chr3.hg19:g.31705280G>A NA B4E212|Q9BTU5 hg19 CCDS2651.1 0.02 4.26694 GCAxTCC COVERED NOVEL OSBPL10-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000253165.2 4 5.115261 KEEP 0 0 0 17 587 GG 0.999366 0.999363 0 - 5 60 175 0 0 10.961439 110 60 4096 156 ENST00000396556.2 0.043478 0.999997 OSBPL10 114884 __UNKNOWN__ __UNKNOWN__ 3 31705649 31705649 __UNKNOWN__ Silent SNP C C T rs2305610 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:31705649C>T ENST00000396556.2 - 11 2294 c.2172G>A c.(2170-2172)ctG>ctA p.L724L OSBPL10_ENST00000438237.2_Silent_p.L660L NM_017784.4 NP_060254.2 Q9BXB5 OSB10_HUMAN oxysterol binding protein-like 10 724 NA lipid transport (GO:0006869) cholesterol binding (GO:0015485) breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 STAD - Stomach adenocarcinoma(1;0.00406) GCTTCTCCTCCAGGTGCCGCT 0.602 NA C||| 411 0.0820687 0.0008 0.0274 5008 , , NA 16436 0.2956 NA 0.0606 False NA ,,, NA NA NA 2504 0.0327 NA NA NA NA 0 C , 49,4357 50.2+/-85.5 0,49,2154 121 111 115 1980,2172 4.4 1 3 dbSNP_100 115 378,8222 124.3+/-183.0 5,368,3927 no coding-synonymous,coding-synonymous OSBPL10 NM_001174060.1,NM_017784.4 , 5,417,6081 TT,TC,CC 4.3953,1.1121,3.2831 , 660/701,724/765 31705649 427,12579 2203 4300 6503 SO:0001819 synonymous_variant AF392451 CCDS2651.1, CCDS54559.1 3p23 2013-01-10 ENSG00000144645 ENSG00000144645 114884 Oxysterol binding proteins, Pleckstrin homology (PH) domain containing 16395 protein-coding gene gene with protein product 606738 NA Standard NM_001174060 NA Approved uc021wuu.1 Q9BXB5 OTTHUMG00000130672 ENST00000396556.2:c.2172G>A chr3.hg19:g.31705649C>T NA B4E212|Q9BTU5 hg19 CCDS2651.1 0.02 3.512004 CTCxAGG COVERED 195 0.08928571428571429 0 0.0 8 0.022099447513812154 146 0.25524475524475526 41 0.05408970976253298 C 10.69 1.420391 0.25552 0.011121 0.043953 ENSG00000144645 ENST00000429492 . . . 5.25 4.37 0.52481 . . . . . . . . . . . 0.09310 P 1.0 . . . . . . . . . . . . . -13.4237 10.0274 0.42079 0.1954:0.7336:0.0:0.071 rs2305610;rs17849742;rs56589580;rs59661156;rs2305610 . . . X 493 . . W - 2 0 OSBPL10 31680653 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 2.194000 0.42668 1.337000 0.45525 0.655000 0.94253 TGG NOVEL OSBPL10-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000253165.2 1 5.718732 KEEP 0 0 0 19 682 CC 0.99986 0.999859 0 - 11 60 335 0 0 22.501448 122 60 4548 174 ENST00000396556.2 0.082707 1 OSBPL10 114884 __UNKNOWN__ __UNKNOWN__ 3 31712393 31712393 __UNKNOWN__ Silent SNP C C T rs3749405 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:31712393C>T ENST00000396556.2 - 9 1931 c.1809G>A c.(1807-1809)ccG>ccA p.P603P OSBPL10_ENST00000438237.2_Silent_p.P539P NM_017784.4 NP_060254.2 Q9BXB5 OSB10_HUMAN oxysterol binding protein-like 10 603 NA lipid transport (GO:0006869) cholesterol binding (GO:0015485) breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 STAD - Stomach adenocarcinoma(1;0.00406) GCTCCACCCACGGGATGGTGA 0.567 NA T||| 2832 0.565495 0.854 0.4107 5008 , , NA 20776 0.6756 NA 0.3728 False NA ,,, NA NA NA 2504 0.3701 NA NA NA NA 0 T , 3339,1067 389.1+/-327.2 1266,807,130 134 118 123 1617,1809 -10.9 0 3 dbSNP_107 123 3086,5514 659.5+/-401.7 533,2020,1747 no coding-synonymous,coding-synonymous OSBPL10 NM_001174060.1,NM_017784.4 , 1799,2827,1877 TT,TC,CC 35.8837,24.217,49.4003 , 539/701,603/765 31712393 6425,6581 2203 4300 6503 SO:0001819 synonymous_variant AF392451 CCDS2651.1, CCDS54559.1 3p23 2013-01-10 ENSG00000144645 ENSG00000144645 114884 Oxysterol binding proteins, Pleckstrin homology (PH) domain containing 16395 protein-coding gene gene with protein product 606738 NA Standard NM_001174060 NA Approved uc021wuu.1 Q9BXB5 OTTHUMG00000130672 ENST00000396556.2:c.1809G>A chr3.hg19:g.31712393C>T NA B4E212|Q9BTU5 hg19 CCDS2651.1 0.02 11.707682 CCAxGGG COVERED 1223 0.559981684981685 412 0.8373983739837398 150 0.4143646408839779 379 0.6625874125874126 282 0.3720316622691293 T 0.057 -1.232567 0.01505 0.75783 0.358837 ENSG00000144645 ENST00000429492 . . . 5.47 -10.9 0.00192 . . . . . T 0.00012 0.0000 . . . 0.09310 P 0.9999999999999976 . . . . . . T 0.24440 -1.0160 3 . . . -18.8515 1.9525 0.03370 0.1631:0.2346:0.2062:0.396 rs3749405;rs17383168;rs17849743;rs3749405 . . . H 372 . . R - 2 0 OSBPL10 31687397 0.000000 0.05858 0.005000 0.12908 0.008000 0.06430 -6.416000 0.00067 -6.038000 0.00007 -2.931000 0.00088 CGT NOVEL OSBPL10-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000253165.2 1 21.367841 KEEP 0 0 0 71 2443 CC 1 1 0 - 16 60 607 0 0 41.782635 261 60 9189 438 ENST00000396556.2 0.057762 1 OSBPL10 114884 __UNKNOWN__ __UNKNOWN__ 3 31725316 31725316 __UNKNOWN__ Silent SNP G G A rs2278959 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:31725316G>A ENST00000396556.2 - 8 1658 c.1536C>T c.(1534-1536)caC>caT p.H512H OSBPL10_ENST00000438237.2_Silent_p.H448H NM_017784.4 NP_060254.2 Q9BXB5 OSB10_HUMAN oxysterol binding protein-like 10 512 NA lipid transport (GO:0006869) cholesterol binding (GO:0015485) breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 STAD - Stomach adenocarcinoma(1;0.00406) TTGGGTGTTCGTGACAGCTGG 0.537 NA G||| 1175 0.234625 0.0983 0.2853 5008 , , NA 19004 0.3234 NA 0.3141 False NA ,,, NA NA NA 2504 0.2096 NA NA NA NA 0 G , 576,3830 256.4+/-261.2 41,494,1668 142 126 132 1344,1536 -11.4 0 3 dbSNP_100 132 2420,6180 401.6+/-347.2 332,1756,2212 no coding-synonymous,coding-synonymous OSBPL10 NM_001174060.1,NM_017784.4 , 373,2250,3880 AA,AG,GG 28.1395,13.0731,23.0355 , 448/701,512/765 31725316 2996,10010 2203 4300 6503 SO:0001819 synonymous_variant AF392451 CCDS2651.1, CCDS54559.1 3p23 2013-01-10 ENSG00000144645 ENSG00000144645 114884 Oxysterol binding proteins, Pleckstrin homology (PH) domain containing 16395 protein-coding gene gene with protein product 606738 NA Standard NM_001174060 NA Approved uc021wuu.1 Q9BXB5 OTTHUMG00000130672 ENST00000396556.2:c.1536C>T chr3.hg19:g.31725316G>A NA B4E212|Q9BTU5 hg19 CCDS2651.1 0.02 11.476709 TTCxTGA COVERED 585 0.26785714285714285 48 0.0975609756097561 115 0.31767955801104975 197 0.34440559440559443 225 0.29683377308707126 G 0.013 -1.643961 0.00792 0.130731 0.281395 ENSG00000144645 ENST00000429492 . . . 5.68 -11.4 0.00090 . . . . . T 0.00012 0.0000 . . . 0.80722 P 0.0 . . . . . . T 0.08432 -1.0722 3 . . . -2.2597 11.7127 0.51635 0.0745:0.0716:0.711:0.1428 rs2278959;rs17383217;rs60439437;rs2278959 . . . M 281 . . T - 2 0 OSBPL10 31700320 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -4.905000 0.00171 -3.447000 0.00161 -1.076000 0.02234 ACG NOVEL OSBPL10-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000253165.2 0 6.991255 KEEP 0 2 56 43 1517 GG 1 1 0 - 11 60 418 0 0 26.705965 281 60 9776 422 ENST00000396556.2 0.037671 1 OSBPL10 114884 __UNKNOWN__ __UNKNOWN__ 3 31789582 31789582 __UNKNOWN__ Missense_Mutation SNP T T C rs2290532 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:31789582T>C ENST00000396556.2 - 5 882 c.760A>G c.(760-762)Aac>Gac p.N254D OSBPL10_ENST00000467647.1_5'UTR|OSBPL10_ENST00000438237.2_Missense_Mutation_p.N190D NM_017784.4 NP_060254.2 Q9BXB5 OSB10_HUMAN oxysterol binding protein-like 10 254 NA N -> D (in dbSNP:rs2290532). lipid transport (GO:0006869) cholesterol binding (GO:0015485) breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 STAD - Stomach adenocarcinoma(1;0.00406) TGCACAAGGTTCTTCTGCTGC 0.587 NA T||| 2141 0.427516 0.0461 0.5576 5008 , , NA 17939 0.7401 NA 0.4404 False NA ,,, NA NA NA 2504 0.5153 NA NA NA NA 0 T ASP/ASN,ASP/ASN 511,3895 235.5+/-248.0 30,451,1722 66 52 57 568,760 4.5 1 3 dbSNP_100 57 3774,4826 531.3+/-382.0 825,2124,1351 yes missense,missense OSBPL10 NM_001174060.1,NM_017784.4 23,23 855,2575,3073 CC,CT,TT 43.8837,11.5978,32.9463 benign,benign 190/701,254/765 31789582 4285,8721 2203 4300 6503 SO:0001583 missense AF392451 CCDS2651.1, CCDS54559.1 3p23 2013-01-10 ENSG00000144645 ENSG00000144645 114884 Oxysterol binding proteins, Pleckstrin homology (PH) domain containing 16395 protein-coding gene gene with protein product 606738 NA Standard NM_001174060 NA Approved uc021wuu.1 Q9BXB5 OTTHUMG00000130672 ENST00000396556.2:c.760A>G chr3.hg19:g.31789582T>C ENSP00000379804:p.Asn254Asp NA B4E212|Q9BTU5 hg19 CCDS2651.1 0.02 4.504971 GGTxCTT COVERED 1001 0.4583333333333333 27 0.054878048780487805 190 0.5248618784530387 445 0.777972027972028 339 0.4472295514511873 T 13.65 2.299228 0.40694 0.115978 0.438837 ENSG00000144645 ENST00000396556;ENST00000438237;ENST00000428241 T;T;T 0.40756 1.02;1.02;1.02 5.63 4.48 0.54585 . 0.186293 0.56097 D 0.000023 T 0.00012 0.0000 L 0.33668 1.02 0.32366 P 0.556513 D;B;B 0.63046 0.992;0.011;0.011 P;B;B 0.53360 0.724;0.006;0.009 T 0.11842 -1.0571 9 0.07325 T 0.83 -24.1001 11.4451 0.50118 0.0:0.0702:0.0:0.9298 rs2290532;rs17451508;rs52825393;rs59854988;rs2290532 190;254;22 B4E212;Q9BXB5;Q59ED9 .;OSB10_HUMAN;. D 254;190;62 ENSP00000379804:N254D;ENSP00000406124:N190D;ENSP00000399200:N62D ENSP00000379804:N254D N - 1 0 OSBPL10 31764586 1.000000 0.71417 1.000000 0.80357 0.784000 0.44337 5.965000 0.70387 0.966000 0.38159 0.459000 0.35465 AAC NOVEL OSBPL10-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000253165.2 2 10.22902 KEEP 0 0 0 34 1033 TT 0.999998 0.999997 0 - 7 60 264 0 0 18.102916 115 60 4072 196 ENST00000396556.2 0.057377 0.999999 OSBPL10 114884 __UNKNOWN__ __UNKNOWN__ 3 31789724 31789724 __UNKNOWN__ Intron SNP C C T rs2290533 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:31789724C>T ENST00000396556.2 - 5 852 OSBPL10_ENST00000467647.1_Intron|OSBPL10_ENST00000438237.2_Intron NM_017784.4 NP_060254.2 Q9BXB5 OSB10_HUMAN oxysterol binding protein-like 10 NA NA lipid transport (GO:0006869) cholesterol binding (GO:0015485) breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 STAD - Stomach adenocarcinoma(1;0.00406) GTCAACTCAGCGTGTTCGGTG 0.468 NA C||| 2147 0.428714 0.0666 0.5504 5008 , , NA 18729 0.748 NA 0.4225 False NA ,,, NA NA NA 2504 0.5092 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF392451 CCDS2651.1, CCDS54559.1 3p23 2013-01-10 ENSG00000144645 ENSG00000144645 114884 Oxysterol binding proteins, Pleckstrin homology (PH) domain containing 16395 protein-coding gene gene with protein product 606738 NA Standard NM_001174060 NA Approved uc021wuu.1 Q9BXB5 OTTHUMG00000130672 ENST00000396556.2:c.730-112G>A chr3.hg19:g.31789724C>T NA B4E212|Q9BTU5 hg19 CCDS2651.1 0.02 -0.385958 CAGxGTG COVERED NOVEL OSBPL10-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000253165.2 0 3.591 KEEP 0 0 0 12 367 CC 0.993634 0.912325 0 - 3 60 111 0 0 7.776271 41 60 1331 59 ENST00000396556.2 0.068182 0.918171 ZNF860 344787 __UNKNOWN__ __UNKNOWN__ 3 32030111 32030111 __UNKNOWN__ Intron SNP T T C rs74550005 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:32030111T>C ENST00000360311.4 + 2 129 ZNF860_ENST00000489408.1_Intron NM_001137674.2 NP_001131146.2 A6NHJ4 ZN860_HUMAN zinc finger protein 860 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(3)|lung(4)|ovary(1) 8 tctctctctctctttctctct 0.458 NA T||| 782 0.15615 0.0779 0.2118 5008 , , NA 20496 0.1141 NA 0.1203 False NA ,,, NA NA NA 2504 0.3027 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK294003 CCDS46784.1 3p24.1 2013-01-08 ENSG00000197385 ENSG00000197385 344787 Zinc fingers, C2H2-type, - 34513 protein-coding gene gene with protein product NA Standard NM_001137674 NA Approved uc011axg.2 A6NHJ4 OTTHUMG00000155838 ENST00000360311.4:c.-420-41T>C chr3.hg19:g.32030111T>C NA B4DFA4 hg19 CCDS46784.1 0.02 4.830863 CTCxCTT COVERED NOVEL ZNF860-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000341957.1 2 2.708131 KEEP 0 0 0 9 284 TT 0.99254 0.992539 0 + 9 60 328 0 0 23.249237 110 60 4083 146 ENST00000360311.4 0.07563 0.999998 ZNF860 344787 __UNKNOWN__ __UNKNOWN__ 3 32031852 32031852 __UNKNOWN__ Silent SNP G G A rs138977513 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:32031852G>A ENST00000360311.4 + 2 1830 c.1281G>A c.(1279-1281)aaG>aaA p.K427K NM_001137674.2 NP_001131146.2 A6NHJ4 ZN860_HUMAN zinc finger protein 860 427 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(3)|lung(4)|ovary(1) 8 GATCTTACAAGTGTAATAAAT 0.353 NA G||| 37 0.00738818 0.0 0.0 5008 , , NA 23315 0.0327 NA 0.003 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 G 0,1384 0,0,692 80 78 79 1281 -0.7 0 3 dbSNP_134 79 8,3174 0,8,1583 yes coding-synonymous ZNF860 NM_001137674.2 0,8,2275 AA,AG,GG 0.2514,0.0,0.1752 427/633 32031852 8,4558 692 1591 2283 SO:0001819 synonymous_variant AK294003 CCDS46784.1 3p24.1 2013-01-08 ENSG00000197385 ENSG00000197385 344787 Zinc fingers, C2H2-type, - 34513 protein-coding gene gene with protein product NA Standard NM_001137674 NA Approved uc011axg.2 A6NHJ4 OTTHUMG00000155838 ENST00000360311.4:c.1281G>A chr3.hg19:g.32031852G>A NA B4DFA4 hg19 CCDS46784.1 0.02 33.427506 CAAxTGT COVERED NOVEL ZNF860-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000341957.1 5 24.369384 KEEP 0 0 0 81 2872 GG 1 1 0 + 32 60 1182 1 0 75.63351 741 60 28120 1010 ENST00000360311.4 0.041397 1 CMTM7 112616 __UNKNOWN__ __UNKNOWN__ 3 32496413 32496413 __UNKNOWN__ 3'UTR SNP C C G rs3871399 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:32496413C>G ENST00000334983.5 + 0 1431 NM_138410.2 NP_612419.1 Q96FZ5 CKLF7_HUMAN CKLF-like MARVEL transmembrane domain containing 7 NA NA chemotaxis (GO:0006935) extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020) endometrium(1)|large_intestine(1)|lung(2) 4 TGTGTCTGGCCCATGGCCCTC 0.493 NA C||| 621 0.124002 0.0575 0.1182 5008 , , NA 20280 0.1647 NA 0.164 False NA ,,, NA NA NA 2504 0.135 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF479263 CCDS33730.1, CCDS33731.1 3p22.2 2005-11-08 2005-11-08 2005-11-08 ENSG00000153551 ENSG00000153551 112616 19178 protein-coding gene gene with protein product 607890 chemokine-like factor super family 7, chemokine-like factor superfamily 7 CKLFSF7 NA Standard NM_138410 NA Approved FLJ30992 uc003cey.1 Q96FZ5 OTTHUMG00000155869 ENST00000334983.5:c.*667C>G chr3.hg19:g.32496413C>G NA Q5VLK1 hg19 CCDS33730.1 0.02 3.832461 GGCxCAT COVERED NOVEL CMTM7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000342084.1 2 7.223103 KEEP 0 0 0 24 841 CC 0.999909 0.999909 0 + 9 60 279 0 0 17.938797 133 60 4686 184 ENST00000334983.5 0.06338 1 CMTM7 112616 __UNKNOWN__ __UNKNOWN__ 3 32496431 32496431 __UNKNOWN__ 3'UTR SNP G G A rs73068704 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:32496431G>A ENST00000334983.5 + 0 1449 NM_138410.2 NP_612419.1 Q96FZ5 CKLF7_HUMAN CKLF-like MARVEL transmembrane domain containing 7 NA NA chemotaxis (GO:0006935) extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020) endometrium(1)|large_intestine(1)|lung(2) 4 CTCCACCCGTGCTCTGTGTGT 0.498 NA G||| 196 0.0391374 0.0045 0.0375 5008 , , NA 19551 0.0625 NA 0.0537 False NA ,,, NA NA NA 2504 0.0481 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF479263 CCDS33730.1, CCDS33731.1 3p22.2 2005-11-08 2005-11-08 2005-11-08 ENSG00000153551 ENSG00000153551 112616 19178 protein-coding gene gene with protein product 607890 chemokine-like factor super family 7, chemokine-like factor superfamily 7 CKLFSF7 NA Standard NM_138410 NA Approved FLJ30992 uc003cey.1 Q96FZ5 OTTHUMG00000155869 ENST00000334983.5:c.*685G>A chr3.hg19:g.32496431G>A NA Q5VLK1 hg19 CCDS33730.1 0.02 3.86653 CGTxCTC COVERED NOVEL CMTM7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000342084.1 2 6.921325 KEEP 0 0 0 23 802 GG 0.999892 0.999892 0 + 8 60 268 0 0 17.362306 130 60 4847 188 ENST00000334983.5 0.057971 1 CMTM7 112616 __UNKNOWN__ __UNKNOWN__ 3 32496547 32496547 __UNKNOWN__ 3'UTR SNP G G A rs3882310 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:32496547G>A ENST00000334983.5 + 0 1565 NM_138410.2 NP_612419.1 Q96FZ5 CKLF7_HUMAN CKLF-like MARVEL transmembrane domain containing 7 NA NA chemotaxis (GO:0006935) extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020) endometrium(1)|large_intestine(1)|lung(2) 4 TTATATTCACGTCCTCCTTCT 0.418 NA G||| 623 0.124401 0.0575 0.1182 5008 , , NA 20983 0.1657 NA 0.165 False NA ,,, NA NA NA 2504 0.135 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF479263 CCDS33730.1, CCDS33731.1 3p22.2 2005-11-08 2005-11-08 2005-11-08 ENSG00000153551 ENSG00000153551 112616 19178 protein-coding gene gene with protein product 607890 chemokine-like factor super family 7, chemokine-like factor superfamily 7 CKLFSF7 NA Standard NM_138410 NA Approved FLJ30992 uc003cey.1 Q96FZ5 OTTHUMG00000155869 ENST00000334983.5:c.*801G>A chr3.hg19:g.32496547G>A NA Q5VLK1 hg19 CCDS33730.1 0.02 6.994685 CACxTCC COVERED NOVEL CMTM7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000342084.1 2 3.912076 KEEP 0 0 0 13 425 GG 0.994391 0.994391 0 + 10 60 353 0 0 24.08467 146 60 5056 186 ENST00000334983.5 0.064103 1 CMTM7 112616 __UNKNOWN__ __UNKNOWN__ 3 32496722 32496722 __UNKNOWN__ 3'UTR SNP C C T rs73068706 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:32496722C>T ENST00000334983.5 + 0 1740 NM_138410.2 NP_612419.1 Q96FZ5 CKLF7_HUMAN CKLF-like MARVEL transmembrane domain containing 7 NA NA chemotaxis (GO:0006935) extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020) endometrium(1)|large_intestine(1)|lung(2) 4 TGAGCAACCCCGTGTGCAAGG 0.453 NA C||| 195 0.0389377 0.0045 0.0375 5008 , , NA 22542 0.0615 NA 0.0537 False NA ,,, NA NA NA 2504 0.0481 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF479263 CCDS33730.1, CCDS33731.1 3p22.2 2005-11-08 2005-11-08 2005-11-08 ENSG00000153551 ENSG00000153551 112616 19178 protein-coding gene gene with protein product 607890 chemokine-like factor super family 7, chemokine-like factor superfamily 7 CKLFSF7 NA Standard NM_138410 NA Approved FLJ30992 uc003cey.1 Q96FZ5 OTTHUMG00000155869 ENST00000334983.5:c.*976C>T chr3.hg19:g.32496722C>T NA Q5VLK1 hg19 CCDS33730.1 0.02 13.498969 CCCxGTG COVERED NOVEL CMTM7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000342084.1 0 14.279568 KEEP 0 1 30 58 1968 CC 1 1 0 + 13 60 463 0 0 29.081354 298 60 10249 447 ENST00000334983.5 0.041801 1 GLB1 2720 __UNKNOWN__ __UNKNOWN__ 3 33038747 33038747 __UNKNOWN__ Silent SNP C C G rs77226678 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:33038747C>G ENST00000399402.3 - 16 1865 c.1734G>C c.(1732-1734)ctG>ctC p.L578L GLB1_ENST00000307377.8_Silent_p.L477L|GLB1_ENST00000445488.2_Silent_p.L656L|GLB1_ENST00000307363.5_Silent_p.L608L NM_001079811.1 NP_001073279 P16278 BGAL_HUMAN galactosidase, beta 1 608 NA K -> R (in GM1G1). {ECO:0000269|PubMed:8213816}. carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202) beta-galactosidase activity (GO:0004565)|galactoside binding (GO:0016936) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 21 Melanoma(143;0.104) CCGAGGTCATCAGGATGTGCT 0.582 NA C||| 548 0.109425 0.0 0.0014 5008 , , NA 18304 0.4484 NA 0.006 False NA ,,, NA NA NA 2504 0.091 NA NA NA NA 0 C ,, 20,3950 0,20,1965 80 78 78 1824,1734,1431 2.3 0.6 3 dbSNP_131 78 21,8287 0,21,4133 no coding-synonymous,coding-synonymous,coding-synonymous GLB1 NM_000404.2,NM_001079811.1,NM_001135602.1 ,, 0,41,6098 GG,GC,CC 0.2528,0.5038,0.3339 ,, 608/678,578/648,477/547 33038747 41,12237 1985 4154 6139 SO:0001819 synonymous_variant M22590 CCDS43061.1, CCDS43062.1, CCDS46785.1 3p22.3 2012-10-02 ENSG00000170266 ENSG00000170266 2720 3.2.1.23 4298 protein-coding gene gene with protein product 611458 elastin receptor 1, 67kDa, elastin receptor 1 (67kD) ELNR1 NA 110522, 3143362 Standard NM_000404 NM_000404 NA Approved EBP uc003cfi.1 P16278 OTTHUMG00000155781 ENST00000399402.3:c.1734G>C chr3.hg19:g.33038747C>G NA B2R7H8|B7Z6B0|P16279 hg19 CCDS43062.1 0.02 4.525905 CATxAGG COVERED NOVEL GLB1-002 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000341570.2 1 3.310975 KEEP 0 0 0 11 405 CC 0.993072 0.993072 0 - 10 60 382 0 0 27.628833 121 60 4613 166 ENST00000399402.3 0.076336 1 GLB1 2720 __UNKNOWN__ __UNKNOWN__ 3 33095140 33095140 __UNKNOWN__ Intron SNP C C A rs72856120 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:33095140C>A ENST00000399402.3 - 7 775 GLB1_ENST00000307377.8_Intron|GLB1_ENST00000445488.2_Intron|GLB1_ENST00000307363.5_Intron NM_001079811.1 NP_001073279 P16278 BGAL_HUMAN galactosidase, beta 1 NA NA carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202) beta-galactosidase activity (GO:0004565)|galactoside binding (GO:0016936) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 21 Melanoma(143;0.104) AGCCCtgctacggtcagaatg 0.443 NA C||| 895 0.178714 0.121 0.0303 5008 , , NA 19196 0.4921 NA 0.0358 False NA ,,, NA NA NA 2504 0.1861 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M22590 CCDS43061.1, CCDS43062.1, CCDS46785.1 3p22.3 2012-10-02 ENSG00000170266 ENSG00000170266 2720 3.2.1.23 4298 protein-coding gene gene with protein product 611458 elastin receptor 1, 67kDa, elastin receptor 1 (67kD) ELNR1 NA 110522, 3143362 Standard NM_000404 NM_000404 NA Approved EBP uc003cfi.1 P16278 OTTHUMG00000155781 ENST00000399402.3:c.644-99G>T chr3.hg19:g.33095140C>A NA B2R7H8|B7Z6B0|P16279 hg19 CCDS43062.1 0.02 2.02988 CTAxGGT COVERED NOVEL GLB1-002 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000341570.2 0 3.009674 KEEP 0 0 0 10 346 CC 0.992708 0.991184 0 - 6 60 210 0 0 14.796308 69 60 2299 93 ENST00000399402.3 0.08 0.998465 GLB1 2720 __UNKNOWN__ __UNKNOWN__ 3 33138549 33138549 __UNKNOWN__ Missense_Mutation SNP G G A rs7637099 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:33138549G>A ENST00000307363.5 - 1 173 c.29C>T c.(28-30)cCt>cTt p.P10L GLB1_ENST00000307377.8_Missense_Mutation_p.P10L|GLB1_ENST00000445488.2_Missense_Mutation_p.P10L NM_000404.2 NP_000395 P16278 BGAL_HUMAN galactosidase, beta 1 10 NA P -> L (in GM1G1; dbSNP:rs7637099). {ECO:0000269|PubMed:10338095, ECO:0000269|PubMed:11511921, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:15791924, ECO:0000269|PubMed:2111707, ECO:0000269|PubMed:2511208, ECO:0000269|Ref.5}. carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202) beta-galactosidase activity (GO:0004565)|galactoside binding (GO:0016936) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 21 Melanoma(143;0.104) CAGCAACAGAGGGAGGATGCG 0.682 NA G||| 2163 0.431909 0.0711 0.572 5008 , , NA 12322 0.4891 NA 0.6461 False NA ,,, NA NA NA 2504 0.5409 NA NA NA NA 0 GRCh37 CM055955 GLB1 M rs7637099 G LEU/PRO,LEU/PRO 641,3363 58,525,1419 43 59 54 29,29 -0.1 0 3 dbSNP_116 54 5237,3161 1653,1931,615 yes missense,missense GLB1 NM_000404.2,NM_001135602.1 98,98 1711,2456,2034 AA,AG,GG 37.6399,16.009,47.3956 probably-damaging,probably-damaging 10/678,10/547 33138549 5878,6524 2002 4199 6201 SO:0001583 missense M22590 CCDS43061.1, CCDS43062.1, CCDS46785.1 3p22.3 2012-10-02 ENSG00000170266 ENSG00000170266 2720 3.2.1.23 4298 protein-coding gene gene with protein product 611458 elastin receptor 1, 67kDa, elastin receptor 1 (67kD) ELNR1 NA 110522, 3143362 Standard NM_000404 NM_000404 NA Approved EBP uc003cfi.1 P16278 OTTHUMG00000155781 ENST00000307363.5:c.29C>T chr3.hg19:g.33138549G>A ENSP00000306920:p.Pro10Leu NA B2R7H8|B7Z6B0|P16279 hg19 CCDS43061.1 0.02 18.153585 AGAxGGA COVERED 1029 0.47115384615384615 50 0.1016260162601626 225 0.6215469613259669 274 0.479020979020979 480 0.633245382585752 G 10.90 1.482603 0.26598 0.16009 0.623601 ENSG00000170266 ENST00000307363;ENST00000445488;ENST00000307377;ENST00000415454;ENST00000436768 D;D;D;D;D 0.99479 -4.21;-5.16;-4.25;-5.98;-5.07 4.12 -0.128 0.13506 . 2.077820 0.01918 N 0.040312 T 0.00012 0.0000 N 0.08118 0 0.80722 P 0.0 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.56823 -0.7915 9 0.11485 T 0.65 0.6435 4.8721 0.13639 0.2212:0.3742:0.4046:0.0 rs7637099;rs17551626;rs17850204;rs61323383;rs7637099 10;10 E7EQ29;P16278 .;BGAL_HUMAN L 10 ENSP00000306920:P10L;ENSP00000393377:P10L;ENSP00000305920:P10L;ENSP00000411813:P10L;ENSP00000387989:P10L ENSP00000306920:P10L P - 2 0 GLB1 33113553 0.000000 0.05858 0.000000 0.03702 0.031000 0.12232 0.197000 0.17197 -0.158000 0.11040 0.491000 0.48974 CCT NOVEL GLB1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000341569.4 2 80.658278 KEEP 0 0 0 268 9732 GG 1 1 0 - 25 60 926 0 0 62.610305 425 60 16221 966 ENST00000307363.5 0.055556 1 CRTAP 10491 __UNKNOWN__ __UNKNOWN__ 3 33174156 33174156 __UNKNOWN__ Silent SNP T T G rs1135127 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:33174156T>G ENST00000320954.6 + 5 1131 c.1032T>G c.(1030-1032)acT>acG p.T344T CRTAP_ENST00000449224.1_Silent_p.T301T NM_006371.4 NP_006362.1 O75718 CRTAP_HUMAN cartilage associated protein 344 NA chaperone-mediated protein folding (GO:0061077)|extracellular matrix organization (GO:0030198)|negative regulation of post-translational protein modification (GO:1901874)|peptidyl-proline hydroxylation to 3-hydroxy-L-proline (GO:0018400)|protein stabilization (GO:0050821)|spermatogenesis (GO:0007283) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular space (GO:0005615)|macromolecular complex (GO:0032991)|proteinaceous extracellular matrix (GO:0005578) protein complex binding (GO:0032403) p.T344T(1) breast(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 9 ACAGGGACACTTGGGGCCTCT 0.522 NA T||| 1470 0.29353 0.2451 0.268 5008 , , NA 18251 0.1548 NA 0.4354 False NA ,,, NA NA NA 2504 0.3742 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) T 1168,3238 411.5+/-335.8 160,848,1195 143 126 132 http://www.ncbi.nlm.nih.gov/sites/varvu?gene 1032 1.5 1 3 dbSNP_86 132 3831,4769 539.1+/-383.5 873,2085,1342 no coding-synonymous CRTAP NM_006371.4 1033,2933,2537 GG,GT,TT 44.5465,26.5093,38.4361 344/402 33174156 4999,8007 2203 4300 6503 SO:0001819 synonymous_variant AJ006470 CCDS2657.1 3p22 2014-09-17 ENSG00000170275 ENSG00000170275 10491 2379 protein-coding gene gene with protein product leprecan-like 3 605497 NA 9217321, 10429950 Standard NM_006371 NA Approved CASP, LEPREL3 uc003cfl.4 O75718 OTTHUMG00000130746 ENST00000320954.6:c.1032T>G chr3.hg19:g.33174156T>G NA B2RBL6 hg19 CCDS2657.1 0.02 1.637854 CACxTGG COVERED NOVEL CRTAP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253246.3 2 8.122243 KEEP 0 0 0 27 815 TT 0.999988 0.999927 0 + 6 60 193 0 0 12.408013 91 60 3238 132 ENST00000320954.6 0.061856 0.99994 CRTAP 10491 __UNKNOWN__ __UNKNOWN__ 3 33174168 33174168 __UNKNOWN__ Silent SNP G G A rs1135128 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:33174168G>A ENST00000320954.6 + 5 1143 c.1044G>A c.(1042-1044)tcG>tcA p.S348S CRTAP_ENST00000449224.1_Silent_p.S305S NM_006371.4 NP_006362.1 O75718 CRTAP_HUMAN cartilage associated protein 348 NA chaperone-mediated protein folding (GO:0061077)|extracellular matrix organization (GO:0030198)|negative regulation of post-translational protein modification (GO:1901874)|peptidyl-proline hydroxylation to 3-hydroxy-L-proline (GO:0018400)|protein stabilization (GO:0050821)|spermatogenesis (GO:0007283) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular space (GO:0005615)|macromolecular complex (GO:0032991)|proteinaceous extracellular matrix (GO:0005578) protein complex binding (GO:0032403) breast(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 9 GGGGCCTCTCGGATGAGCACT 0.517 NA G||| 1470 0.29353 0.2451 0.268 5008 , , NA 18961 0.1548 NA 0.4354 False NA ,,, NA NA NA 2504 0.3742 NA NA NA NA 0 G 1168,3238 411.5+/-335.8 160,848,1195 132 116 121 http://www.ncbi.nlm.nih.gov/sites/varvu?gene 1044 -6.7 0.6 3 dbSNP_86 121 3830,4770 539.0+/-383.5 872,2086,1342 no coding-synonymous CRTAP NM_006371.4 1032,2934,2537 AA,AG,GG 44.5349,26.5093,38.4284 348/402 33174168 4998,8008 2203 4300 6503 SO:0001819 synonymous_variant AJ006470 CCDS2657.1 3p22 2014-09-17 ENSG00000170275 ENSG00000170275 10491 2379 protein-coding gene gene with protein product leprecan-like 3 605497 NA 9217321, 10429950 Standard NM_006371 NA Approved CASP, LEPREL3 uc003cfl.4 O75718 OTTHUMG00000130746 ENST00000320954.6:c.1044G>A chr3.hg19:g.33174168G>A NA B2RBL6 hg19 CCDS2657.1 0.02 2.250439 CTCxGAT COVERED NOVEL CRTAP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253246.3 1 5.718345 KEEP 0 0 0 19 643 GG 0.99986 0.999419 0 + 4 60 152 0 0 10.126467 80 60 2884 108 ENST00000320954.6 0.047619 0.999559 SUSD5 26032 __UNKNOWN__ __UNKNOWN__ 3 33195284 33195284 __UNKNOWN__ Silent SNP G G A rs61743511 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:33195284G>A ENST00000309558.3 - 5 1257 c.840C>T c.(838-840)ccC>ccT p.P280P NM_015551.1 NP_056366.1 O60279 SUSD5_HUMAN sushi domain containing 5 280 NA cell adhesion (GO:0007155) integral component of membrane (GO:0016021) hyaluronic acid binding (GO:0005540) p.P280P(1) breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 GTGAATCTGCGGGGACACTGC 0.547 NA G||| 810 0.161741 0.0862 0.1758 5008 , , NA 18901 0.1905 NA 0.1541 False NA ,,, NA NA NA 2504 0.2321 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) G 346,3490 21,304,1593 47 48 48 840 3 0 3 dbSNP_129 48 1323,6933 106,1111,2911 no coding-synonymous SUSD5 NM_015551.1 127,1415,4504 AA,AG,GG 16.0247,9.0198,13.8025 280/630 33195284 1669,10423 1918 4128 6046 SO:0001819 synonymous_variant AB011099 CCDS46787.1 3p23 2014-02-12 2006-01-13 ENSG00000173705 ENSG00000173705 26032 29061 protein-coding gene gene with protein product NA Standard XM_171054 NM_015551 NA Approved KIAA0527 uc003cfo.1 O60279 OTTHUMG00000155829 ENST00000309558.3:c.840C>T chr3.hg19:g.33195284G>A NA hg19 CCDS46787.1 0.02 17.316911 TGCxGGG COVERED 338 0.15476190476190477 43 0.08739837398373984 64 0.17679558011049723 117 0.20454545454545456 114 0.1503957783641161 G 0.009 -1.842924 0.00568 0.090198 0.160247 ENSG00000173705 ENST00000412539 T 0.11063 2.81 5.9 2.99 0.34606 . 0.323106 0.32852 N 0.005575 T 0.00012 0.0000 . . . 0.58432 P 1.0000000000287557E-6 . . . . . . T 0.45542 -0.9254 6 0.16420 T 0.52 -6.8588 4.4684 0.11700 0.1477:0.1153:0.6059:0.131 . . . . L 216 ENSP00000406475:P216L ENSP00000406475:P216L P - 2 0 SUSD5 33170288 1.000000 0.71417 0.002000 0.10522 0.000000 0.00434 1.206000 0.32321 0.418000 0.25898 -0.797000 0.03246 CCG NOVEL SUSD5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000341902.1 3 27.384576 KEEP 0 0 0 91 3025 GG 1 1 0 - 27 60 969 0 0 66.639419 381 60 13355 602 ENST00000309558.3 0.066176 1 SUSD5 26032 __UNKNOWN__ __UNKNOWN__ 3 33195309 33195309 __UNKNOWN__ Missense_Mutation SNP A A G rs61743461 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:33195309A>G ENST00000309558.3 - 5 1232 c.815T>C c.(814-816)tTg>tCg p.L272S NM_015551.1 NP_056366.1 O60279 SUSD5_HUMAN sushi domain containing 5 272 NA L -> S (in Ref. 1; BAA25453). {ECO:0000305}. cell adhesion (GO:0007155) integral component of membrane (GO:0016021) hyaluronic acid binding (GO:0005540) breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 AGCACCAGGCAAGCCTGTGGT 0.562 NA A||| 1006 0.200879 0.2239 0.1902 5008 , , NA 19136 0.1925 NA 0.1551 False NA ,,, NA NA NA 2504 0.2331 NA NA NA NA 0 A SER/LEU 755,3049 80,595,1227 51 51 51 815 -3 0 3 dbSNP_129 51 1322,6924 105,1112,2906 yes missense SUSD5 NM_015551.1 145 185,1707,4133 GG,GA,AA 16.032,19.8475,17.2365 benign 272/630 33195309 2077,9973 1902 4123 6025 SO:0001583 missense AB011099 CCDS46787.1 3p23 2014-02-12 2006-01-13 ENSG00000173705 ENSG00000173705 26032 29061 protein-coding gene gene with protein product NA Standard XM_171054 NM_015551 NA Approved KIAA0527 uc003cfo.1 O60279 OTTHUMG00000155829 ENST00000309558.3:c.815T>C chr3.hg19:g.33195309A>G ENSP00000308727:p.Leu272Ser NA hg19 CCDS46787.1 0.02 16.429848 GGCxAGC COVERED 415|415 0.190018315018315|0.190018315018315 117|117 0.23780487804878048|0.23780487804878048 67|67 0.1850828729281768|0.1850828729281768 117|117 0.20454545454545456|0.20454545454545456 114|114 0.1503957783641161|0.1503957783641161 A|A 5.226|5.226 0.227208|0.227208 0.09916|0.09916 0.198475|0.198475 0.16032|0.16032 ENSG00000173705|ENSG00000173705 ENST00000412539|ENST00000309558 .|T .|0.06687 .|3.27 6.02|6.02 -2.95|-2.95 0.05564|0.05564 .|. .|1.433320 .|0.04002 .|N .|0.296634 T|T 0.00012|0.00012 0.0000|0.0000 M|M 0.65975|0.65975 2.015|2.015 0.80722|0.80722 P|P 0.0|0.0 .|B .|0.24721 .|0.11 .|B .|0.16722 .|0.016 T|T 0.43814|0.43814 -0.9368|-0.9368 4|9 .|0.19147 .|T .|0.46 -1.7866|-1.7866 6.6702|6.6702 0.23064|0.23064 0.3956:0.2344:0.3699:0.0|0.3956:0.2344:0.3699:0.0 .|. .|272 .|O60279 .|SUSD5_HUMAN R|S 208|272 .|ENSP00000308727:L272S .|ENSP00000308727:L272S C|L -|- 1|2 0|0 SUSD5|SUSD5 33170313|33170313 0.073000|0.073000 0.21202|0.21202 0.008000|0.008000 0.14137|0.14137 0.110000|0.110000 0.19582|0.19582 -0.086000|-0.086000 0.11233|0.11233 -0.713000|-0.713000 0.04981|0.04981 0.533000|0.533000 0.62120|0.62120 TGC|TTG NOVEL SUSD5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000341902.1 4 27.379678 KEEP 0 0 0 91 2783 AA 1 1 0 - 25 60 899 0 0 61.345197 371 60 13544 590 ENST00000309558.3 0.063131 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 33318861 33318861 __UNKNOWN__ IGR SNP G G A rs147031531 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:33318861G>A NA NA SUSD5 (58154 upstream) : FBXL2 (52 downstream) NA NA NA CGCCCCTGCGGGTCACGTGCT 0.726 NA G||| 98 0.0195687 0.0008 0.0317 5008 , , NA 10071 0.0744 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.33318861G>A NA hg19 0.02 4.296177 GCGxGTC COVERED NOVEL 0 0 9.631468 KEEP 0 0 0 32 1147 GG 0.999997 0.999992 0 6 60 188 0 0 11.914874 106 60 3823 166 0.053571 0.999995 FBXL2 25827 __UNKNOWN__ __UNKNOWN__ 3 33419422 33419422 __UNKNOWN__ Intron SNP C C T rs2291897 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:33419422C>T ENST00000484457.1 + 12 940 FBXL2_ENST00000538892.1_Intron|FBXL2_ENST00000446237.3_Intron|FBXL2_ENST00000538181.1_Intron|FBXL2_ENST00000283627.6_Intron|FBXL2_ENST00000542085.1_Intron|FBXL2_ENST00000507198.1_Intron NM_012157.3 NP_036289.3 F-box and leucine-rich repeat protein 2 NA NA endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1) 15 CACTGTAACTCAAAAGGCAGC 0.478 NA C||| 1648 0.329073 0.3722 0.3674 5008 , , NA 21702 0.4554 NA 0.2107 False NA ,,, NA NA NA 2504 0.2352 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF174589 CCDS2658.1, CCDS54560.1 3p22.3 2011-06-09 ENSG00000153558 ENSG00000153558 25827 F-boxes / Leucine-rich repeats 13598 protein-coding gene gene with protein product 605652 NA 10508920, 10531035 Standard NM_012157 NM_012157 NA Approved FBL2, FBL3 uc003cfp.3 Q9UKC9 OTTHUMG00000130745 ENST00000484457.1:c.850-173C>T chr3.hg19:g.33419422C>T NA hg19 CCDS2658.1 0.02 1.672585 ACTxAAA COVERED NOVEL FBXL2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253245.2 0 4.815516 KEEP 0 0 0 16 547 CC 0.997832 0.997726 0 + 5 60 173 0 0 11.230962 88 60 3298 115 ENST00000484457.1 0.053763 0.999895 FBXL2 25827 __UNKNOWN__ __UNKNOWN__ 3 33428299 33428299 __UNKNOWN__ 3'UTR SNP G G A rs71728904|rs28394363|rs59581460|rs374346349 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:33428299G>A ENST00000484457.1 + 0 2562 FBXL2_ENST00000538892.1_3'UTR NM_012157.3 NP_036289.3 F-box and leucine-rich repeat protein 2 NA NA endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1) 15 TTAAGAACCTGTCAATCAGTC 0.438 NA A||| 2483 0.495807 0.4365 0.5648 5008 , , NA 17605 0.5942 NA 0.4751 False NA ,,, NA NA NA 2504 0.4468 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF174589 CCDS2658.1, CCDS54560.1 3p22.3 2011-06-09 ENSG00000153558 ENSG00000153558 25827 F-boxes / Leucine-rich repeats 13598 protein-coding gene gene with protein product 605652 NA 10508920, 10531035 Standard NM_012157 NM_012157 NA Approved FBL2, FBL3 uc003cfp.3 Q9UKC9 OTTHUMG00000130745 ENST00000484457.1:c.*1199G>A chr3.hg19:g.33428299G>A NA hg19 CCDS2658.1 0.02 6.132616 CCTxTCA COVERED NOVEL FBXL2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253245.2 1 4.147587 KEEP 0 1 29 24 845 GG 0.999931 0.999931 0 + 9 60 291 0 2 17.883473 177 60 6628 252 ENST00000484457.1 0.048387 1 FBXL2 25827 __UNKNOWN__ __UNKNOWN__ 3 33428373 33428373 __UNKNOWN__ 3'UTR SNP C C G rs6772365 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:33428373C>G ENST00000484457.1 + 0 2636 FBXL2_ENST00000538892.1_3'UTR NM_012157.3 NP_036289.3 F-box and leucine-rich repeat protein 2 NA NA endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1) 15 AACCACTCCCCCAAACTGAAG 0.408 NA C||| 1318 0.263179 0.0779 0.3184 5008 , , NA 18474 0.4167 NA 0.3022 False NA ,,, NA NA NA 2504 0.2761 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF174589 CCDS2658.1, CCDS54560.1 3p22.3 2011-06-09 ENSG00000153558 ENSG00000153558 25827 F-boxes / Leucine-rich repeats 13598 protein-coding gene gene with protein product 605652 NA 10508920, 10531035 Standard NM_012157 NM_012157 NA Approved FBL2, FBL3 uc003cfp.3 Q9UKC9 OTTHUMG00000130745 ENST00000484457.1:c.*1273C>G chr3.hg19:g.33428373C>G NA hg19 CCDS2658.1 0.02 3.78419 CCCxCAA COVERED NOVEL FBXL2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253245.2 3 2.708745 KEEP 0 0 0 9 311 CC 0.99254 0.99254 0 + 7 60 248 0 0 16.167954 129 60 4550 151 ENST00000484457.1 0.051471 1 UBP1 7342 __UNKNOWN__ __UNKNOWN__ 3 33434831 33434831 __UNKNOWN__ Silent SNP G G A rs2293250 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:33434831G>A ENST00000283629.3 - 14 2035 c.1506C>T c.(1504-1506)acC>acT p.T502T UBP1_ENST00000283628.5_Silent_p.T502T|UBP1_ENST00000447368.2_Silent_p.T466T|UBP1_ENST00000486388.1_5'UTR NM_001128161.1|NM_014517.4 NP_001121633.1|NP_055332.3 Q9NZI7 UBIP1_HUMAN upstream binding protein 1 (LBP-1a) 502 NA angiogenesis (GO:0001525)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079) nucleus (GO:0005634) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714) breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2) 23 TGTGAATACCGGTGGGACCCT 0.368 NA A||| 2705 0.540136 0.5552 0.6326 5008 , , NA 16560 0.6141 NA 0.4732 False NA ,,, NA NA NA 2504 0.4468 NA NA NA NA 0 A ,, 2543,1863 540.7+/-375.6 712,1119,372 79 79 79 1398,1506,1506 -2 1 3 dbSNP_100 79 3856,4744 609.5+/-395.5 848,2160,1292 no coding-synonymous,coding-synonymous,coding-synonymous UBP1 NM_001128160.1,NM_001128161.1,NM_014517.4 ,, 1560,3279,1664 AA,AG,GG 44.8372,42.2833,49.2004 ,, 466/505,502/541,502/541 33434831 6399,6607 2203 4300 6503 SO:0001819 synonymous_variant AF198487 CCDS2659.1, CCDS46788.1 3p22.3 2004-03-02 ENSG00000153560 ENSG00000153560 7342 12507 protein-coding gene gene with protein product 609784 NA 8114710 Standard NM_014517 NM_014517 NA Approved LBP-1a uc010hga.3 Q9NZI7 OTTHUMG00000130749 ENST00000283629.3:c.1506C>T chr3.hg19:g.33434831G>A NA Q68CT0|Q86Y57|Q9H8V0|Q9UD76|Q9UD78 hg19 CCDS2659.1 0.02 6.663341 ACCxGTG COVERED NOVEL UBP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253249.2 2 18.354046 KEEP 0 0 0 61 2023 GG 1 1 0 - 7 60 266 0 0 17.251873 164 60 5625 282 ENST00000283629.3 0.040936 1 UBP1 7342 __UNKNOWN__ __UNKNOWN__ 3 33458266 33458266 __UNKNOWN__ Missense_Mutation SNP T T C rs3736563 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:33458266T>C ENST00000283629.3 - 3 855 c.326A>G c.(325-327)aAt>aGt p.N109S UBP1_ENST00000283628.5_Missense_Mutation_p.N109S|UBP1_ENST00000447368.2_Missense_Mutation_p.N109S NM_001128161.1|NM_014517.4 NP_001121633.1|NP_055332.3 Q9NZI7 UBIP1_HUMAN upstream binding protein 1 (LBP-1a) 109 NA N -> S (in dbSNP:rs3736563). {ECO:0000269|PubMed:8114710}. angiogenesis (GO:0001525)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079) nucleus (GO:0005634) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714) breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2) 23 TAATTTTCCATTGATCTCAGG 0.294 NA C||| 2399 0.479034 0.5333 0.5605 5008 , , NA 18916 0.6091 NA 0.3141 False NA ,,, NA NA NA 2504 0.3834 NA NA NA NA 0 C SER/ASN,SER/ASN,SER/ASN 2363,2043 566.7+/-382.0 610,1143,450 104 107 106 326,326,326 4 1 3 dbSNP_107 106 2423,6175 697.0+/-404.9 332,1759,2208 yes missense,missense,missense UBP1 NM_001128160.1,NM_001128161.1,NM_014517.4 46,46,46 942,2902,2658 CC,CT,TT 28.181,46.3686,36.8041 benign,benign,benign 109/505,109/541,109/541 33458266 4786,8218 2203 4299 6502 SO:0001583 missense AF198487 CCDS2659.1, CCDS46788.1 3p22.3 2004-03-02 ENSG00000153560 ENSG00000153560 7342 12507 protein-coding gene gene with protein product 609784 NA 8114710 Standard NM_014517 NM_014517 NA Approved LBP-1a uc010hga.3 Q9NZI7 OTTHUMG00000130749 ENST00000283629.3:c.326A>G chr3.hg19:g.33458266T>C ENSP00000283629:p.Asn109Ser NA Q68CT0|Q86Y57|Q9H8V0|Q9UD76|Q9UD78 hg19 CCDS2659.1 0.02 11.63789 CCAxTGA COVERED 993 0.45467032967032966 253 0.5142276422764228 182 0.5027624309392266 309 0.5402097902097902 249 0.32849604221635886 C 2.681 -0.275386 0.05679 0.536314 0.28181 ENSG00000153560 ENST00000283629;ENST00000447368;ENST00000283628;ENST00000456378 T;T;T;T 0.16324 2.35;2.35;2.35;2.35 5.73 3.95 0.45737 CP2 transcription factor (1); 0.144057 0.64402 N 0.000005 T 0.00012 0.0000 N 0.03608 -0.345 0.44247 P 0.002905999999999964 B;B 0.02656 0.0;0.0 B;B 0.06405 0.0;0.002 T 0.44590 -0.9318 9 0.07325 T 0.83 -11.4831 2.3834 0.04360 0.113:0.4797:0.1756:0.2318 rs3736563;rs57275094;rs3736563 109;109 Q9NZI7-4;Q9NZI7 .;UBIP1_HUMAN S 109 ENSP00000283629:N109S;ENSP00000395558:N109S;ENSP00000283628:N109S;ENSP00000401614:N109S ENSP00000283628:N109S N - 2 0 UBP1 33433270 1.000000 0.71417 0.992000 0.48379 0.989000 0.77384 1.041000 0.30291 0.464000 0.27142 -0.119000 0.15052 AAT NOVEL UBP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253249.2 2 9.097973 KEEP 0 2 74 56 1781 TT 1 1 0 - 11 60 419 0 0 26.924107 274 60 9979 437 ENST00000283629.3 0.038596 1 UBP1 7342 __UNKNOWN__ __UNKNOWN__ 3 33481400 33481400 __UNKNOWN__ 5'UTR SNP G G C rs2272153 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:33481400G>C ENST00000283629.3 - 0 470 UBP1_ENST00000283628.5_5'UTR|UBP1_ENST00000447368.2_5'UTR NM_001128161.1|NM_014517.4 NP_001121633.1|NP_055332.3 Q9NZI7 UBIP1_HUMAN upstream binding protein 1 (LBP-1a) NA NA angiogenesis (GO:0001525)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079) nucleus (GO:0005634) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714) breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2) 23 GAAGGAGCCGGAGCTCCGCTG 0.756 NA G||| 1652 0.329872 0.3752 0.3703 5008 , , NA 8834 0.4544 NA 0.2107 False NA ,,, NA NA NA 2504 0.2342 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF198487 CCDS2659.1, CCDS46788.1 3p22.3 2004-03-02 ENSG00000153560 ENSG00000153560 7342 12507 protein-coding gene gene with protein product 609784 NA 8114710 Standard NM_014517 NM_014517 NA Approved LBP-1a uc010hga.3 Q9NZI7 OTTHUMG00000130749 ENST00000283629.3:c.-60C>G chr3.hg19:g.33481400G>C NA Q68CT0|Q86Y57|Q9H8V0|Q9UD76|Q9UD78 hg19 CCDS2659.1 0.02 1.936616 CCGxAGC COVERED NOVEL UBP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253249.2 1 18.592587 KEEP 0 1 38 75 2512 GG 1 0.99994 0 - 5 60 190 0 0 12.834522 92 60 3432 199 ENST00000283629.3 0.051546 0.99994 CLASP2 23122 __UNKNOWN__ __UNKNOWN__ 3 33539893 33539893 __UNKNOWN__ 3'UTR SNP A A G rs13954 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:33539893A>G ENST00000468888.2 - 0 4821 CLASP2_ENST00000480013.1_3'UTR|CLASP2_ENST00000359576.5_3'UTR|CLASP2_ENST00000399362.4_3'UTR|CLASP2_ENST00000307312.7_3'UTR|CLASP2_ENST00000539981.1_3'UTR|CLASP2_ENST00000461133.3_3'UTR O75122 CLAP2_HUMAN cytoplasmic linker associated protein 2 NA NA axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886) cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802) galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010) breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 48 GTGTCGATCAATTGATGTTAA 0.294 NA A||| 1768 0.353035 0.2194 0.5144 5008 , , NA 19041 0.3671 NA 0.4066 False NA ,,, NA NA NA 2504 0.3497 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB014527 3p24.3 2013-01-18 ENSG00000163539 ENSG00000163539 23122 17078 protein-coding gene gene with protein product 605853 NA 9734811, 10899121 Standard NM_001207044 NM_015097 NA Approved KIAA0627 uc021wvc.1 O75122 OTTHUMG00000156489 ENST00000468888.2:c.*230T>C chr3.hg19:g.33539893A>G NA Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2 hg19 0.02 9.38713 TCAxTTG COVERED NOVEL CLASP2-001 NOVEL basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000344320.4 2 9.62935 KEEP 0 0 0 32 1032 AA 0.999997 0.999997 0 - 10 60 384 0 0 25.910652 191 60 6979 268 ENST00000468888.2 0.049751 1 CLASP2 23122 __UNKNOWN__ __UNKNOWN__ 3 33605300 33605300 __UNKNOWN__ Intron SNP G G A rs7643855 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:33605300G>A ENST00000468888.2 - 28 2837 CLASP2_ENST00000480013.1_Intron|CLASP2_ENST00000359576.5_Intron|CLASP2_ENST00000539981.1_Intron|CLASP2_ENST00000307312.7_Intron|CLASP2_ENST00000399362.4_Intron|CLASP2_ENST00000461133.3_Intron O75122 CLAP2_HUMAN cytoplasmic linker associated protein 2 NA NA axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886) cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802) galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010) breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 48 TTCACTGTCTGTAAGATAATG 0.368 NA A||| 2310 0.461262 0.7322 0.5231 5008 , , NA 20320 0.3651 NA 0.2893 False NA ,,, NA NA NA 2504 0.3272 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB014527 3p24.3 2013-01-18 ENSG00000163539 ENSG00000163539 23122 17078 protein-coding gene gene with protein product 605853 NA 9734811, 10899121 Standard NM_001207044 NM_015097 NA Approved KIAA0627 uc021wvc.1 O75122 OTTHUMG00000156489 ENST00000468888.2:c.2791-2837C>T chr3.hg19:g.33605300G>A NA Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2 hg19 0.02 16.045259 TCTxTAA COVERED NOVEL CLASP2-001 NOVEL basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000344320.4 2 5.488287 KEEP 0 2 65 41 1447 GG 1 1 0 - 21 60 746 0 0 48.741685 385 60 14631 493 ENST00000468888.2 0.051724 1 CLASP2 23122 __UNKNOWN__ __UNKNOWN__ 3 33615874 33615874 __UNKNOWN__ Intron SNP G G A rs9841413 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:33615874G>A ENST00000468888.2 - 25 2528 CLASP2_ENST00000480013.1_Intron|CLASP2_ENST00000359576.5_Intron|CLASP2_ENST00000539981.1_Intron|CLASP2_ENST00000307312.7_Intron|CLASP2_ENST00000399362.4_Intron|CLASP2_ENST00000461133.3_Intron O75122 CLAP2_HUMAN cytoplasmic linker associated protein 2 NA NA axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886) cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802) galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010) breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 48 CTTCTACTTTGATTTTTAATA 0.308 NA A||| 1792 0.357827 0.416 0.4683 5008 , , NA 17701 0.3631 NA 0.2664 False NA ,,, NA NA NA 2504 0.2894 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB014527 3p24.3 2013-01-18 ENSG00000163539 ENSG00000163539 23122 17078 protein-coding gene gene with protein product 605853 NA 9734811, 10899121 Standard NM_001207044 NM_015097 NA Approved KIAA0627 uc021wvc.1 O75122 OTTHUMG00000156489 ENST00000468888.2:c.2481+90C>T chr3.hg19:g.33615874G>A NA Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2 hg19 0.02 2.269964 TTTxATT COVERED NOVEL CLASP2-001 NOVEL basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000344320.4 0 4.21365 KEEP 0 0 0 14 491 GG 0.995343 0.981561 0 - 4 60 146 0 0 10.158074 55 60 2123 80 ENST00000468888.2 0.067797 0.986153 CLASP2 23122 __UNKNOWN__ __UNKNOWN__ 3 33617790 33617790 __UNKNOWN__ Intron SNP A A G rs4629282 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:33617790A>G ENST00000468888.2 - 24 2397 CLASP2_ENST00000480013.1_Intron|CLASP2_ENST00000359576.5_Intron|CLASP2_ENST00000539981.1_Intron|CLASP2_ENST00000307312.7_Intron|CLASP2_ENST00000399362.4_Intron|CLASP2_ENST00000461133.3_Intron O75122 CLAP2_HUMAN cytoplasmic linker associated protein 2 NA NA axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886) cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802) galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010) breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 48 AAGAAGGAAAATAGATTTGAA 0.403 NA A||| 1083 0.216254 0.1384 0.3343 5008 , , NA 17891 0.2708 NA 0.1879 False NA ,,, NA NA NA 2504 0.2106 NA NA NA NA 0 A , 489,3241 24,441,1400 52 50 50 , 1.6 0.1 3 dbSNP_111 50 1134,7094 66,1002,3046 no intron,intron CLASP2 NM_001207044.1,NM_015097.2 , 90,1443,4446 GG,GA,AA 13.7822,13.1099,13.5725 , , 33617790 1623,10335 1865 4114 5979 SO:0001627 intron_variant AB014527 3p24.3 2013-01-18 ENSG00000163539 ENSG00000163539 23122 17078 protein-coding gene gene with protein product 605853 NA 9734811, 10899121 Standard NM_001207044 NM_015097 NA Approved KIAA0627 uc021wvc.1 O75122 OTTHUMG00000156489 ENST00000468888.2:c.2351-23T>C chr3.hg19:g.33617790A>G NA Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2 hg19 0.02 4.301922 AAAxTAG COVERED NOVEL CLASP2-001 NOVEL basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000344320.4 0 9.327985 KEEP 0 0 0 31 960 AA 0.999997 0.999992 0 - 5 60 188 0 0 12.354658 105 60 3858 162 ENST00000468888.2 0.045455 0.999995 PDCD6IP 10015 __UNKNOWN__ __UNKNOWN__ 3 33853747 33853747 __UNKNOWN__ Intron SNP C C T rs9851801 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:33853747C>T ENST00000307296.3 + 2 641 PDCD6IP_ENST00000498147.1_Intron|PDCD6IP_ENST00000457054.2_Intron Q8WUM4 PDC6I_HUMAN programmed cell death 6 interacting protein NA NA apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|membrane (GO:0016020)|vesicle (GO:0031982) calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803) central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1) 23 CTGTCTAATGCGAATATATGT 0.358 NA c||| 1635 0.326478 0.2859 0.4006 5008 , , NA 16951 0.4107 NA 0.2296 False NA ,,, NA NA NA 2504 0.3415 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC020066 CCDS2660.1, CCDS54561.1 3p22.3 2012-08-30 2001-11-29 ENSG00000170248 ENSG00000170248 10015 8766 protein-coding gene gene with protein product ALG-2 interacting protein X 608074 programmed cell death 6-interacting protein NA 9880530 Standard NM_001162429 NA Approved Alix, AIP1, Hp95 uc003cfy.4 Q8WUM4 OTTHUMG00000130751 ENST00000307296.3:c.264+129C>T chr3.hg19:g.33853747C>T NA C5MQH7|E9PFU1|Q6NUS1|Q9BX86|Q9NUN0|Q9P2H2|Q9UKL5 hg19 CCDS2660.1 0.02 1.912525 ATGxGAA COVERED NOVEL PDCD6IP-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000253251.2 0 3.310057 KEEP 0 0 0 11 350 CC 0.993072 0.991948 0 + 5 60 182 0 0 12.55101 72 60 2342 88 ENST00000307296.3 0.064935 0.998867 PDCD6IP 10015 __UNKNOWN__ __UNKNOWN__ 3 33866868 33866868 __UNKNOWN__ Intron SNP A A G rs12488699 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:33866868A>G ENST00000307296.3 + 5 993 PDCD6IP_ENST00000457054.2_Intron Q8WUM4 PDC6I_HUMAN programmed cell death 6 interacting protein NA NA apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|membrane (GO:0016020)|vesicle (GO:0031982) calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803) central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1) 23 CATGTGAAAAAAAGTGATAAG 0.323 NA G||| 1664 0.332268 0.3041 0.4035 5008 , , NA 17037 0.4107 NA 0.2316 False NA ,,, NA NA NA 2504 0.3425 NA NA NA NA 0 G , 1333,3071 192,949,1061 51 56 54 , 0.2 0 3 dbSNP_120 54 2265,6335 283,1699,2318 no intron,intron PDCD6IP NM_001162429.1,NM_013374.4 , 475,2648,3379 GG,GA,AA 26.3372,30.2679,27.6684 , , 33866868 3598,9406 2202 4300 6502 SO:0001627 intron_variant BC020066 CCDS2660.1, CCDS54561.1 3p22.3 2012-08-30 2001-11-29 ENSG00000170248 ENSG00000170248 10015 8766 protein-coding gene gene with protein product ALG-2 interacting protein X 608074 programmed cell death 6-interacting protein NA 9880530 Standard NM_001162429 NA Approved Alix, AIP1, Hp95 uc003cfy.4 Q8WUM4 OTTHUMG00000130751 ENST00000307296.3:c.616+36A>G chr3.hg19:g.33866868A>G NA C5MQH7|E9PFU1|Q6NUS1|Q9BX86|Q9NUN0|Q9P2H2|Q9UKL5 hg19 CCDS2660.1 0.02 1.710679 AAAxAAG COVERED NOVEL PDCD6IP-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000253251.2 1 4.811523 KEEP 0 0 0 16 444 AA 0.997832 0.997794 0 + 5 60 177 0 0 11.468147 95 60 3388 122 ENST00000307296.3 0.05 0.999962 PDCD6IP 10015 __UNKNOWN__ __UNKNOWN__ 3 33877626 33877626 __UNKNOWN__ Missense_Mutation SNP G G A rs3792594 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:33877626G>A ENST00000307296.3 + 8 1302 c.925G>A c.(925-927)Gct>Act p.A309T PDCD6IP_ENST00000457054.2_Missense_Mutation_p.A314T Q8WUM4 PDC6I_HUMAN programmed cell death 6 interacting protein 309 BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.|Interaction with CHMP4A, CHMP4B and CHMP4C.|Interaction with EIAV p9. NA A -> T (in dbSNP:rs3792594). {ECO:0000269|Ref.3}. apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|membrane (GO:0016020)|vesicle (GO:0031982) calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803) central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1) 23 TCGTGCCCTTGCTGCAGCAAA 0.388 NA A||| 1639 0.327276 0.2912 0.402 5008 , , NA 18899 0.4067 NA 0.2326 False NA ,,, NA NA NA 2504 0.3384 NA NA NA NA 0 A THR/ALA,THR/ALA 1309,3097 697.2+/-406.2 175,959,1069 161 165 164 940,925 2.7 1 3 dbSNP_107 164 2278,6322 707.5+/-405.6 280,1718,2302 yes missense,missense PDCD6IP NM_001162429.1,NM_013374.4 58,58 455,2677,3371 AA,AG,GG 26.4884,29.7095,27.5796 benign,benign 314/874,309/869 33877626 3587,9419 2203 4300 6503 SO:0001583 missense BC020066 CCDS2660.1, CCDS54561.1 3p22.3 2012-08-30 2001-11-29 ENSG00000170248 ENSG00000170248 10015 8766 protein-coding gene gene with protein product ALG-2 interacting protein X 608074 programmed cell death 6-interacting protein NA 9880530 Standard NM_001162429 NA Approved Alix, AIP1, Hp95 uc003cfy.4 Q8WUM4 OTTHUMG00000130751 ENST00000307296.3:c.925G>A chr3.hg19:g.33877626G>A ENSP00000307387:p.Ala309Thr NA C5MQH7|E9PFU1|Q6NUS1|Q9BX86|Q9NUN0|Q9P2H2|Q9UKL5 hg19 CCDS2660.1 0.02 17.656854 CTTxCTG COVERED 737 0.3374542124542125 156 0.3170731707317073 155 0.4281767955801105 246 0.43006993006993005 180 0.23746701846965698 A 7.300 0.612793 0.14066 0.297095 0.264884 ENSG00000170248 ENST00000307296;ENST00000457054 T;T 0.16743 2.32;2.32 5.18 2.68 0.31781 BRO1 domain (3); 0.048164 0.85682 N 0.000000 T 0.00012 0.0000 N 0.05534 -0.03 0.41888 P 0.009646999999999961 B;B;B 0.09022 0.002;0.0;0.0 B;B;B 0.15484 0.013;0.001;0.001 T 0.48736 -0.9009 9 0.17832 T 0.49 -7.0423 10.1043 0.42524 0.7313:0.0:0.2687:0.0 rs3792594;rs52810638;rs57922878;rs3792594 90;314;309 B7Z5C1;E9PFU1;Q8WUM4 .;.;PDC6I_HUMAN T 309;314 ENSP00000307387:A309T;ENSP00000411825:A314T ENSP00000307387:A309T A + 1 0 PDCD6IP 33852630 0.998000 0.40836 1.000000 0.80357 0.995000 0.86356 2.195000 0.42677 0.272000 0.22027 -0.269000 0.10298 GCT NOVEL PDCD6IP-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000253251.2 2 18.66081 KEEP 0 0 0 62 2215 GG 1 1 0 + 34 60 1207 0 0 85.415639 393 60 15032 599 ENST00000307296.3 0.079625 1 PDCD6IP 10015 __UNKNOWN__ __UNKNOWN__ 3 33887102 33887102 __UNKNOWN__ Intron SNP A A G rs11928792 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:33887102A>G ENST00000307296.3 + 12 2018 PDCD6IP_ENST00000457054.2_Intron Q8WUM4 PDC6I_HUMAN programmed cell death 6 interacting protein NA NA apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|membrane (GO:0016020)|vesicle (GO:0031982) calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803) central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1) 23 ACTTTGATGTAGGTTGTCATC 0.403 NA G||| 1655 0.330471 0.2943 0.4035 5008 , , NA 17078 0.4107 NA 0.2326 False NA ,,, NA NA NA 2504 0.3456 NA NA NA NA 0 G , 1314,3092 692.9+/-405.6 178,958,1067 66 56 59 , 2.2 0 3 dbSNP_120 59 2276,6324 701.7+/-405.2 281,1714,2305 no intron,intron PDCD6IP NM_001162429.1,NM_013374.4 , 459,2672,3372 GG,GA,AA 26.4651,29.823,27.6026 , , 33887102 3590,9416 2203 4300 6503 SO:0001627 intron_variant BC020066 CCDS2660.1, CCDS54561.1 3p22.3 2012-08-30 2001-11-29 ENSG00000170248 ENSG00000170248 10015 8766 protein-coding gene gene with protein product ALG-2 interacting protein X 608074 programmed cell death 6-interacting protein NA 9880530 Standard NM_001162429 NA Approved Alix, AIP1, Hp95 uc003cfy.4 Q8WUM4 OTTHUMG00000130751 ENST00000307296.3:c.1641+22A>G chr3.hg19:g.33887102A>G NA C5MQH7|E9PFU1|Q6NUS1|Q9BX86|Q9NUN0|Q9P2H2|Q9UKL5 hg19 CCDS2660.1 0.02 9.655512 TGTxGGT COVERED NOVEL PDCD6IP-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000253251.2 2 10.83116 KEEP 0 0 0 36 1090 AA 0.999999 0.999999 0 + 10 60 369 0 0 24.09447 206 60 7588 295 ENST00000307296.3 0.046296 1 PDCD6IP 10015 __UNKNOWN__ __UNKNOWN__ 3 33905471 33905471 __UNKNOWN__ Intron SNP A A G rs11922311 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:33905471A>G ENST00000307296.3 + 16 2497 PDCD6IP_ENST00000457054.2_Intron Q8WUM4 PDC6I_HUMAN programmed cell death 6 interacting protein NA NA apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|membrane (GO:0016020)|vesicle (GO:0031982) calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803) central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1) 23 CTATCATGTTAATTTTTAACA 0.338 NA A||| 1074 0.214457 0.1346 0.2925 5008 , , NA 19222 0.3849 NA 0.0845 False NA ,,, NA NA NA 2504 0.2249 NA NA NA NA 0 A , 531,3875 240.3+/-251.1 37,457,1709 44 46 45 , 0.6 0 3 dbSNP_120 45 810,7790 188.3+/-235.3 43,724,3533 no intron,intron PDCD6IP NM_001162429.1,NM_013374.4 , 80,1181,5242 GG,GA,AA 9.4186,12.0517,10.3106 , , 33905471 1341,11665 2203 4300 6503 SO:0001627 intron_variant BC020066 CCDS2660.1, CCDS54561.1 3p22.3 2012-08-30 2001-11-29 ENSG00000170248 ENSG00000170248 10015 8766 protein-coding gene gene with protein product ALG-2 interacting protein X 608074 programmed cell death 6-interacting protein NA 9880530 Standard NM_001162429 NA Approved Alix, AIP1, Hp95 uc003cfy.4 Q8WUM4 OTTHUMG00000130751 ENST00000307296.3:c.2121-27A>G chr3.hg19:g.33905471A>G NA C5MQH7|E9PFU1|Q6NUS1|Q9BX86|Q9NUN0|Q9P2H2|Q9UKL5 hg19 CCDS2660.1 0.02 14.866738 GTTxATT COVERED NOVEL PDCD6IP-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000253251.2 1 14.444047 KEEP 0 0 0 48 1515 AA 1 1 0 + 21 60 747 0 0 51.738658 282 60 10126 408 ENST00000307296.3 0.069307 1 PDCD6IP 10015 __UNKNOWN__ __UNKNOWN__ 3 33905566 33905566 __UNKNOWN__ Missense_Mutation SNP C C T rs1127732 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:33905566C>T ENST00000307296.3 + 16 2566 c.2189C>T c.(2188-2190)tCa>tTa p.S730L PDCD6IP_ENST00000457054.2_Missense_Mutation_p.S735L Q8WUM4 PDC6I_HUMAN programmed cell death 6 interacting protein 730 Interaction with EIAV p9.|Pro-rich.|Self-association. NA S -> L (in dbSNP:rs1127732). {ECO:0000269|Ref.3}. apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|membrane (GO:0016020)|vesicle (GO:0031982) calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803) central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1) 23 TATCAGTCCTCACCAGCAGGA 0.433 NA C||| 1241 0.247804 0.1581 0.3112 5008 , , NA 18749 0.3889 NA 0.1332 False NA ,,, NA NA NA 2504 0.2965 NA NA NA NA 0 C LEU/SER,LEU/SER 693,3713 291.8+/-281.7 58,577,1568 79 75 76 2204,2189 5.9 1 3 dbSNP_86 76 1313,7287 259.0+/-282.4 98,1117,3085 yes missense,missense PDCD6IP NM_001162429.1,NM_013374.4 145,145 156,1694,4653 TT,TC,CC 15.2674,15.7286,15.4237 benign,benign 735/874,730/869 33905566 2006,11000 2203 4300 6503 SO:0001583 missense BC020066 CCDS2660.1, CCDS54561.1 3p22.3 2012-08-30 2001-11-29 ENSG00000170248 ENSG00000170248 10015 8766 protein-coding gene gene with protein product ALG-2 interacting protein X 608074 programmed cell death 6-interacting protein NA 9880530 Standard NM_001162429 NA Approved Alix, AIP1, Hp95 uc003cfy.4 Q8WUM4 OTTHUMG00000130751 ENST00000307296.3:c.2189C>T chr3.hg19:g.33905566C>T ENSP00000307387:p.Ser730Leu NA C5MQH7|E9PFU1|Q6NUS1|Q9BX86|Q9NUN0|Q9P2H2|Q9UKL5 hg19 CCDS2660.1 0.02 15.00816 CCTxACC COVERED 504 0.23076923076923078 71 0.1443089430894309 109 0.3011049723756906 220 0.38461538461538464 104 0.13720316622691292 C 18.35 3.603869 0.66445 0.157286 0.152674 ENSG00000170248 ENST00000307296;ENST00000457054 T;T 0.36157 1.27;1.27 5.94 5.94 0.96194 . 0.207357 0.40144 N 0.001180 T 0.00012 0.0000 L 0.47016 1.485 0.27577 P 0.9497123 P;B;P 0.36086 0.536;0.346;0.536 B;B;B 0.30943 0.115;0.122;0.115 T 0.48258 -0.9051 9 0.26408 T 0.33 -18.0067 16.5903 0.84763 0.0:0.8699:0.1301:0.0 rs1127732;rs52791786;rs61557319;rs1127732 511;735;730 B7Z5C1;E9PFU1;Q8WUM4 .;.;PDC6I_HUMAN L 730;735 ENSP00000307387:S730L;ENSP00000411825:S735L ENSP00000307387:S730L S + 2 0 PDCD6IP 33880570 0.405000 0.25336 0.997000 0.53966 0.716000 0.41182 1.948000 0.40303 2.817000 0.96982 0.557000 0.71058 TCA NOVEL PDCD6IP-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000253251.2 1 21.067762 KEEP 0 0 0 70 2456 CC 1 1 0 + 22 60 784 0 0 52.497358 355 60 13649 555 ENST00000307296.3 0.058355 1 PDCD6IP 10015 __UNKNOWN__ __UNKNOWN__ 3 33907945 33907945 __UNKNOWN__ Silent SNP A A G rs3183987 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:33907945A>G ENST00000307296.3 + 18 2912 c.2535A>G c.(2533-2535)ccA>ccG p.P845P PDCD6IP_ENST00000457054.2_Silent_p.P850P Q8WUM4 PDC6I_HUMAN programmed cell death 6 interacting protein 845 Interaction with EIAV p9.|Pro-rich.|Self-association. NA apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|membrane (GO:0016020)|vesicle (GO:0031982) calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803) central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1) 23 GACAGGCTCCATACCCGGGAC 0.522 NA A||| 1655 0.330471 0.2943 0.4035 5008 , , NA 15976 0.4117 NA 0.2326 False NA ,,, NA NA NA 2504 0.3446 NA NA NA NA 0 A , 1318,3088 444.3+/-347.3 179,960,1064 88 87 87 2550,2535 -11.6 0.7 3 dbSNP_105 87 2277,6323 383.6+/-340.8 281,1715,2304 no coding-synonymous,coding-synonymous PDCD6IP NM_001162429.1,NM_013374.4 , 460,2675,3368 GG,GA,AA 26.4767,29.9138,27.6411 , 850/874,845/869 33907945 3595,9411 2203 4300 6503 SO:0001819 synonymous_variant BC020066 CCDS2660.1, CCDS54561.1 3p22.3 2012-08-30 2001-11-29 ENSG00000170248 ENSG00000170248 10015 8766 protein-coding gene gene with protein product ALG-2 interacting protein X 608074 programmed cell death 6-interacting protein NA 9880530 Standard NM_001162429 NA Approved Alix, AIP1, Hp95 uc003cfy.4 Q8WUM4 OTTHUMG00000130751 ENST00000307296.3:c.2535A>G chr3.hg19:g.33907945A>G NA C5MQH7|E9PFU1|Q6NUS1|Q9BX86|Q9NUN0|Q9P2H2|Q9UKL5 hg19 CCDS2660.1 0.02 5.918511 TCCxTAC COVERED NOVEL PDCD6IP-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000253251.2 2 9.627634 KEEP 0 0 0 32 977 AA 0.999997 0.999997 0 + 9 60 316 0 0 19.982389 190 60 6892 270 ENST00000307296.3 0.045226 1 PDCD6IP 10015 __UNKNOWN__ __UNKNOWN__ 3 33909048 33909048 __UNKNOWN__ 3'UTR SNP G G C rs7651053 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:33909048G>C ENST00000307296.3 + 0 4015 PDCD6IP_ENST00000457054.2_3'UTR Q8WUM4 PDC6I_HUMAN programmed cell death 6 interacting protein NA NA apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|membrane (GO:0016020)|vesicle (GO:0031982) calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803) central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1) 23 AAAGATTGGAGTATTTTATAA 0.303 NA C||| 2083 0.415935 0.5938 0.4409 5008 , , NA 19161 0.4117 NA 0.2356 False NA ,,, NA NA NA 2504 0.3476 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC020066 CCDS2660.1, CCDS54561.1 3p22.3 2012-08-30 2001-11-29 ENSG00000170248 ENSG00000170248 10015 8766 protein-coding gene gene with protein product ALG-2 interacting protein X 608074 programmed cell death 6-interacting protein NA 9880530 Standard NM_001162429 NA Approved Alix, AIP1, Hp95 uc003cfy.4 Q8WUM4 OTTHUMG00000130751 ENST00000307296.3:c.*1031G>C chr3.hg19:g.33909048G>C NA C5MQH7|E9PFU1|Q6NUS1|Q9BX86|Q9NUN0|Q9P2H2|Q9UKL5 hg19 CCDS2660.1 0.02 12.159688 GGAxTAT COVERED NOVEL PDCD6IP-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000253251.2 2 9.63124 KEEP 0 0 0 32 1149 GG 0.999997 0.999997 0 + 20 60 741 0 0 52.661705 251 60 9517 368 ENST00000307296.3 0.073801 1 PDCD6IP 10015 __UNKNOWN__ __UNKNOWN__ 3 33909611 33909611 __UNKNOWN__ 3'UTR SNP C C T rs4678619 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:33909611C>T ENST00000307296.3 + 0 4578 PDCD6IP_ENST00000457054.2_3'UTR Q8WUM4 PDC6I_HUMAN programmed cell death 6 interacting protein NA NA apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|membrane (GO:0016020)|vesicle (GO:0031982) calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803) central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1) 23 CTTTTTACTTCATCAGTTGCT 0.303 NA T||| 1652 0.329872 0.2912 0.4035 5008 , , NA 17830 0.4117 NA 0.2326 False NA ,,, NA NA NA 2504 0.3456 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC020066 CCDS2660.1, CCDS54561.1 3p22.3 2012-08-30 2001-11-29 ENSG00000170248 ENSG00000170248 10015 8766 protein-coding gene gene with protein product ALG-2 interacting protein X 608074 programmed cell death 6-interacting protein NA 9880530 Standard NM_001162429 NA Approved Alix, AIP1, Hp95 uc003cfy.4 Q8WUM4 OTTHUMG00000130751 ENST00000307296.3:c.*1594C>T chr3.hg19:g.33909611C>T NA C5MQH7|E9PFU1|Q6NUS1|Q9BX86|Q9NUN0|Q9P2H2|Q9UKL5 hg19 CCDS2660.1 0.02 7.624437 CTTxATC COVERED NOVEL PDCD6IP-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000253251.2 3 4.815686 KEEP 0 0 0 16 563 CC 0.997832 0.997832 0 + 7 60 248 0 0 14.675985 213 60 8071 264 ENST00000307296.3 0.031818 1 STAC 6769 __UNKNOWN__ __UNKNOWN__ 3 36534540 36534540 __UNKNOWN__ Intron SNP G G A rs2290528 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:36534540G>A ENST00000273183.3 + 6 987 STAC_ENST00000457375.2_Intron|STAC_ENST00000476388.1_Intron NM_003149.1 NP_003140.1 Q99469 STAC_HUMAN SH3 and cysteine rich domain NA NA cellular response to heat (GO:0034605)|intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165) cytosol (GO:0005829) metal ion binding (GO:0046872) endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5) 32 GGGTCCTTATGTGTCATGCAA 0.453 NA g||| 888 0.177316 0.1278 0.1527 5008 , , NA 22097 0.3085 NA 0.1203 False NA ,,, NA NA NA 2504 0.1851 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D86640 CCDS2662.1 3p22.3 2007-06-08 ENSG00000144681 ENSG00000144681 6769 11353 protein-coding gene gene with protein product 602317 src homology three (SH3) and cysteine rich domain NA 8954993, 10393425 Standard NM_003149 XM_006713308 NA Approved STAC1 uc003cgh.1 Q99469 OTTHUMG00000130798 ENST00000273183.3:c.688-103G>A chr3.hg19:g.36534540G>A NA B2R8S8 hg19 CCDS2662.1 0.02 4.235036 TATxTGT COVERED NOVEL STAC-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253338.2 0 5.116787 KEEP 0 0 0 17 605 GG 0.999366 0.999366 0 + 8 60 284 0 0 19.171587 122 60 4714 170 ENST00000273183.3 0.061538 1 DCLK3 85443 __UNKNOWN__ __UNKNOWN__ 3 36755107 36755107 __UNKNOWN__ 3'UTR SNP G G A rs35721771 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:36755107G>A ENST00000416516.2 - 0 4149 NM_033403.1 NP_208382.1 Q9C098 DCLK3_HUMAN doublecortin-like kinase 3 NA NA cytoplasm (GO:0005737)|nucleus (GO:0005634) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674) breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 48 gggtgtcaacggtttggtttc 0.483 NA G||| 1786 0.356629 0.0915 0.4049 5008 , , NA 19635 0.5625 NA 0.3588 False NA ,,, NA NA NA 2504 0.4663 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB051552 CCDS43064.1 3p22.3 2007-04-02 2007-04-02 2007-04-02 ENSG00000163673 ENSG00000163673 85443 19005 protein-coding gene gene with protein product 613167 doublecortin and CaM kinase-like 3 DCAMKL3 NA 11214970, 16869982 Standard XM_047355 NM_033403 NA Approved KIAA1765, DCDC3C uc003cgi.2 Q9C098 OTTHUMG00000155805 ENST00000416516.2:c.*1712C>T chr3.hg19:g.36755107G>A NA hg19 CCDS43064.1 0.02 9.332725 AACxGTT COVERED NOVEL DCLK3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000341727.1 1 2.407695 KEEP 0 0 0 8 271 GG 0.99257 0.99257 0 - 11 60 400 0 0 26.200069 219 60 7543 288 ENST00000416516.2 0.047826 1 GOLGA4 2803 __UNKNOWN__ __UNKNOWN__ 3 37343688 37343688 __UNKNOWN__ Missense_Mutation SNP G G A rs141780526 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:37343688G>A ENST00000356847.4 + 11 1464 c.1165G>A c.(1165-1167)Gca>Aca p.A389T GOLGA4_ENST00000361924.2_Missense_Mutation_p.A367T|GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000435830.2_3'UTR NM_001172713.1 NP_001166184.1 Q13439 GOGA4_HUMAN golgin A4 367 Glu-rich. NA Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802) GTPase binding (GO:0051020) NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 AATGGTAATCGCAGAGACAAA 0.388 NA NA NA NA NA NA NA NA NA NA NA 0 59 57 58 NA NA 3 NA 37343688 2203 4300 6503 SO:0001583 missense U31906 CCDS2666.1, CCDS54564.1 3p22-p21.3 2010-02-12 2010-02-12 ENSG00000144674 ENSG00000144674 2803 4427 protein-coding gene gene with protein product golgin 245 602509 golgi autoantigen, golgin subfamily a, 4 NA 8626529 Standard NM_002078 NM_002078 NA Approved GOLG, GCP2, p230, golgin-240 uc003cgw.3 Q13439 OTTHUMG00000130799 ENST00000356847.4:c.1165G>A chr3.hg19:g.37343688G>A ENSP00000349305:p.Ala389Thr NA F8W8Q7|Q13270|Q13654|Q14436|Q59EW8 hg19 CCDS54564.1 0.02 6.37582 ATCxCAG COVERED . . . . . . . . . . G 19.53 3.844826 0.71603 . . ENSG00000144674 ENST00000361924;ENST00000356847;ENST00000450863;ENST00000437131 T;T;T 0.35973 1.4;1.56;1.28 5.88 4.79 0.61399 . 0.240725 0.21702 N 0.070406 T 0.25531 0.0621 L 0.38649 1.16 0.51767 D 0.999931 P;D;P 0.54601 0.719;0.967;0.654 B;B;B 0.39465 0.068;0.3;0.075 T 0.02829 -1.1105 10 0.14252 T 0.57 . 12.3493 0.55139 0.1021:0.0:0.8979:0.0 . 367;389;367 Q13439-4;F8W8Q7;Q13439 .;.;GOGA4_HUMAN T 367;389;372;238 ENSP00000354486:A367T;ENSP00000349305:A389T;ENSP00000405842:A238T ENSP00000349305:A389T A + 1 0 GOLGA4 37318692 1.000000 0.71417 1.000000 0.80357 0.975000 0.68041 7.905000 0.87416 1.150000 0.42419 0.650000 0.86243 GCA NOVEL GOLGA4-006 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000342257.2 2 13.242113 KEEP 0 0 0 44 1500 GG 1 1 0 + 6 60 228 0 0 14.227747 175 60 5883 270 ENST00000356847.4 0.033149 1 ITGA9 3680 __UNKNOWN__ __UNKNOWN__ 3 37522831 37522831 __UNKNOWN__ Intron SNP A A C rs17036403 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:37522831A>C ENST00000264741.5 + 4 676 ITGA9_ENST00000422441.1_Intron NM_002207.2 NP_002198.2 Q13797 ITA9_HUMAN integrin, alpha 9 NA NA axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|neutrophil chemotaxis (GO:0030593)|wound healing (GO:0042060) basal plasma membrane (GO:0009925)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|plasma membrane (GO:0005886) metal ion binding (GO:0046872) breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1) 44 KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197) atgcccagaaaagtgcctgTT 0.453 NA C||| 537 0.107228 0.1263 0.1081 5008 , , NA 19223 0.0853 NA 0.1312 False NA ,,, NA NA NA 2504 0.0787 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L24158 CCDS2669.1 3p21.3 2010-03-23 ENSG00000144668 ENSG00000144668 3680 Integrins 6145 protein-coding gene gene with protein product integrin, alpha 4-like 603963 NA 8245132, 8290272 Standard NM_002207 NM_002207 NA Approved RLC, ITGA4L, ALPHA-RLC uc003chd.3 Q13797 OTTHUMG00000130815 ENST00000264741.5:c.421-144A>C chr3.hg19:g.37522831A>C NA Q14638 hg19 CCDS2669.1 0.02 2.112327 GAAxAGT COVERED NOVEL ITGA9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253361.1 0 3.008589 KEEP 0 0 0 10 308 AA 0.992708 0.991583 0 + 5 60 187 0 0 13.080666 71 60 2529 93 ENST00000264741.5 0.065789 0.998867 ITGA9 3680 __UNKNOWN__ __UNKNOWN__ 3 37522875 37522875 __UNKNOWN__ Intron SNP C C T rs73055204 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:37522875C>T ENST00000264741.5 + 4 676 ITGA9_ENST00000422441.1_Intron NM_002207.2 NP_002198.2 Q13797 ITA9_HUMAN integrin, alpha 9 NA NA axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|neutrophil chemotaxis (GO:0030593)|wound healing (GO:0042060) basal plasma membrane (GO:0009925)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|plasma membrane (GO:0005886) metal ion binding (GO:0046872) breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1) 44 KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197) CTCTGCTCCTCTCTTCTCCCA 0.498 NA C||| 440 0.0878594 0.0567 0.1023 5008 , , NA 18933 0.0853 NA 0.1312 False NA ,,, NA NA NA 2504 0.0777 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L24158 CCDS2669.1 3p21.3 2010-03-23 ENSG00000144668 ENSG00000144668 3680 Integrins 6145 protein-coding gene gene with protein product integrin, alpha 4-like 603963 NA 8245132, 8290272 Standard NM_002207 NM_002207 NA Approved RLC, ITGA4L, ALPHA-RLC uc003chd.3 Q13797 OTTHUMG00000130815 ENST00000264741.5:c.421-100C>T chr3.hg19:g.37522875C>T NA Q14638 hg19 CCDS2669.1 0.02 4.064084 CCTxTCT COVERED NOVEL ITGA9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253361.1 0 8.125735 KEEP 0 0 0 27 908 CC 0.999988 0.999969 0 + 6 60 207 0 0 13.605516 98 60 3713 159 ENST00000264741.5 0.057692 0.999981 ITGA9 3680 __UNKNOWN__ __UNKNOWN__ 3 37523079 37523079 __UNKNOWN__ Silent SNP G G A rs17227748 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:37523079G>A ENST00000264741.5 + 4 781 c.525G>A c.(523-525)acG>acA p.T175T ITGA9_ENST00000422441.1_Silent_p.T175T NM_002207.2 NP_002198.2 Q13797 ITA9_HUMAN integrin, alpha 9 175 NA axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|neutrophil chemotaxis (GO:0030593)|wound healing (GO:0042060) basal plasma membrane (GO:0009925)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|plasma membrane (GO:0005886) metal ion binding (GO:0046872) p.T175T(1) breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1) 44 KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197) AAGGCAGGACGCTGATCCCTT 0.552 NA G||| 408 0.0814696 0.031 0.0994 5008 , , NA 20890 0.0863 NA 0.1332 False NA ,,, NA NA NA 2504 0.0787 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) G 184,4222 118.8+/-156.5 4,176,2023 223 184 197 525 0.3 0.9 3 dbSNP_123 197 1219,7381 246.1+/-274.7 80,1059,3161 no coding-synonymous ITGA9 NM_002207.2 84,1235,5184 AA,AG,GG 14.1744,4.1761,10.7873 175/1036 37523079 1403,11603 2203 4300 6503 SO:0001819 synonymous_variant L24158 CCDS2669.1 3p21.3 2010-03-23 ENSG00000144668 ENSG00000144668 3680 Integrins 6145 protein-coding gene gene with protein product integrin, alpha 4-like 603963 NA 8245132, 8290272 Standard NM_002207 NM_002207 NA Approved RLC, ITGA4L, ALPHA-RLC uc003chd.3 Q13797 OTTHUMG00000130815 ENST00000264741.5:c.525G>A chr3.hg19:g.37523079G>A NA Q14638 hg19 CCDS2669.1 0.02 6.296258 GACxCTG COVERED NOVEL ITGA9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253361.1 0 12.64156 KEEP 0 0 0 42 1512 GG 1 1 0 + 7 60 226 0 0 13.830719 149 60 5438 251 ENST00000264741.5 0.044872 1 ITGA9 3680 __UNKNOWN__ __UNKNOWN__ 3 37535866 37535866 __UNKNOWN__ Intron SNP G G A rs369092506|rs539108 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:37535866G>A ENST00000264741.5 + 5 800 ITGA9_ENST00000422441.1_Intron NM_002207.2 NP_002198.2 Q13797 ITA9_HUMAN integrin, alpha 9 NA NA axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|neutrophil chemotaxis (GO:0030593)|wound healing (GO:0042060) basal plasma membrane (GO:0009925)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|plasma membrane (GO:0005886) metal ion binding (GO:0046872) breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1) 44 KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197) CAGTCTGGATGGCATCCCTGG 0.627 NA G||| 2546 0.508387 0.3041 0.6643 5008 , , NA 17316 0.7917 NA 0.5258 False NA ,,, NA NA NA 2504 0.364 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L24158 CCDS2669.1 3p21.3 2010-03-23 ENSG00000144668 ENSG00000144668 3680 Integrins 6145 protein-coding gene gene with protein product integrin, alpha 4-like 603963 NA 8245132, 8290272 Standard NM_002207 NM_002207 NA Approved RLC, ITGA4L, ALPHA-RLC uc003chd.3 Q13797 OTTHUMG00000130815 ENST00000264741.5:c.545-126G>A chr3.hg19:g.37535866G>A NA Q14638 hg19 CCDS2669.1 0.02 -0.271957 GATxGCA COVERED NOVEL ITGA9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253361.1 0 3.009501 KEEP 0 0 0 10 343 GG 0.992708 0.712085 0 + 3 60 117 0 0 8.851477 28 60 1000 43 ENST00000264741.5 0.096774 0.717315 ITGA9 3680 __UNKNOWN__ __UNKNOWN__ 3 37535984 37535984 __UNKNOWN__ Intron SNP C C G rs2507940 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:37535984C>G ENST00000264741.5 + 5 800 ITGA9_ENST00000422441.1_Intron NM_002207.2 NP_002198.2 Q13797 ITA9_HUMAN integrin, alpha 9 NA NA axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|neutrophil chemotaxis (GO:0030593)|wound healing (GO:0042060) basal plasma membrane (GO:0009925)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|plasma membrane (GO:0005886) metal ion binding (GO:0046872) breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1) 44 KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197) CTCCTTCCTTCCCCCTAGAGT 0.592 NA C||| 2668 0.532748 0.3722 0.6758 5008 , , NA 18543 0.7917 NA 0.5358 False NA ,,, NA NA NA 2504 0.3783 NA NA NA NA 0 C 1803,2603 519.8+/-370.1 375,1053,775 112 106 108 2.5 0.5 3 dbSNP_100 108 4966,3634 609.5+/-395.5 1443,2080,777 no intron ITGA9 NM_002207.2 1818,3133,1552 GG,GC,CC 42.2558,40.9215,47.9548 37535984 6769,6237 2203 4300 6503 SO:0001627 intron_variant L24158 CCDS2669.1 3p21.3 2010-03-23 ENSG00000144668 ENSG00000144668 3680 Integrins 6145 protein-coding gene gene with protein product integrin, alpha 4-like 603963 NA 8245132, 8290272 Standard NM_002207 NM_002207 NA Approved RLC, ITGA4L, ALPHA-RLC uc003chd.3 Q13797 OTTHUMG00000130815 ENST00000264741.5:c.545-8C>G chr3.hg19:g.37535984C>G NA Q14638 hg19 CCDS2669.1 0.02 7.220638 CTTxCCC COVERED NOVEL ITGA9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253361.1 0 14.446297 KEEP 0 0 0 48 1643 CC 1 1 0 + 6 60 237 1 0 15.572601 147 60 5436 261 ENST00000264741.5 0.039216 1 ITGA9 3680 __UNKNOWN__ __UNKNOWN__ 3 37560708 37560708 __UNKNOWN__ Intron SNP A A G rs3733138 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:37560708A>G ENST00000264741.5 + 11 1397 ITGA9_ENST00000422441.1_Intron NM_002207.2 NP_002198.2 Q13797 ITA9_HUMAN integrin, alpha 9 NA NA axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|neutrophil chemotaxis (GO:0030593)|wound healing (GO:0042060) basal plasma membrane (GO:0009925)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|plasma membrane (GO:0005886) metal ion binding (GO:0046872) breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1) 44 KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197) CACTTGTATTATTAATGTGGC 0.428 NA A||| 293 0.0585064 0.0257 0.0735 5008 , , NA 17133 0.0933 NA 0.0696 False NA ,,, NA NA NA 2504 0.045 NA NA NA NA 0 A 130,4276 90.6+/-129.3 3,124,2076 81 74 76 -3.1 0 3 dbSNP_107 76 513,8087 139.5+/-196.2 14,485,3801 no intron ITGA9 NM_002207.2 17,609,5877 GG,GA,AA 5.9651,2.9505,4.9439 37560708 643,12363 2203 4300 6503 SO:0001627 intron_variant L24158 CCDS2669.1 3p21.3 2010-03-23 ENSG00000144668 ENSG00000144668 3680 Integrins 6145 protein-coding gene gene with protein product integrin, alpha 4-like 603963 NA 8245132, 8290272 Standard NM_002207 NM_002207 NA Approved RLC, ITGA4L, ALPHA-RLC uc003chd.3 Q13797 OTTHUMG00000130815 ENST00000264741.5:c.1142-43A>G chr3.hg19:g.37560708A>G NA Q14638 hg19 CCDS2669.1 0.02 12.305698 ATTxTTA COVERED NOVEL ITGA9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253361.1 2 16.851531 KEEP 0 0 0 56 1786 AA 1 1 0 + 22 60 864 0 0 62.746633 278 60 10019 435 ENST00000264741.5 0.073333 1 ITGA9 3680 __UNKNOWN__ __UNKNOWN__ 3 37574951 37574951 __UNKNOWN__ Missense_Mutation SNP G G A rs267561 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:37574951G>A ENST00000264741.5 + 14 1776 c.1520G>A c.(1519-1521)gGa>gAa p.G507E ITGA9_ENST00000422441.1_Missense_Mutation_p.G507E NM_002207.2 NP_002198.2 Q13797 ITA9_HUMAN integrin, alpha 9 507 NA G -> E (in dbSNP:rs267561). {ECO:0000269|PubMed:8245132, ECO:0000269|PubMed:8290272}. axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|neutrophil chemotaxis (GO:0030593)|wound healing (GO:0042060) basal plasma membrane (GO:0009925)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|plasma membrane (GO:0005886) metal ion binding (GO:0046872) breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1) 44 KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197) CACGTTCCAGGAGAGATTGGT 0.547 NA G||| 2800 0.559105 0.4486 0.6844 5008 , , NA 21440 0.8046 NA 0.5427 False NA ,,, NA NA NA 2504 0.3834 NA NA NA NA 0 G GLU/GLY 2077,2329 570.8+/-382.9 493,1091,619 74 54 61 1520 5.9 1 3 dbSNP_79 61 4991,3609 624.8+/-397.6 1455,2081,764 yes missense ITGA9 NM_002207.2 98 1948,3172,1383 AA,AG,GG 41.9651,47.1403,45.6559 probably-damaging 507/1036 37574951 7068,5938 2203 4300 6503 SO:0001583 missense L24158 CCDS2669.1 3p21.3 2010-03-23 ENSG00000144668 ENSG00000144668 3680 Integrins 6145 protein-coding gene gene with protein product integrin, alpha 4-like 603963 NA 8245132, 8290272 Standard NM_002207 NM_002207 NA Approved RLC, ITGA4L, ALPHA-RLC uc003chd.3 Q13797 OTTHUMG00000130815 ENST00000264741.5:c.1520G>A chr3.hg19:g.37574951G>A ENSP00000264741:p.Gly507Glu NA Q14638 hg19 CCDS2669.1 0.02 8.907493 CAGxAGA COVERED 1340 0.6135531135531136 208 0.42276422764227645 253 0.6988950276243094 470 0.8216783216783217 409 0.5395778364116095 G 19.23 3.787460 0.70337 0.471403 0.580349 ENSG00000144668 ENST00000422441;ENST00000264741 T;T 0.47177 0.85;0.85 5.86 5.86 0.93980 Integrin alpha-2 (1); 0.000000 0.85682 D 0.000000 T 0.00012 0.0000 M 0.75777 2.31 0.09310 P 0.99999999975383 B;P 0.35944 0.003;0.529 B;B 0.44163 0.02;0.443 T 0.18241 -1.0343 9 0.25106 T 0.35 . 20.1865 0.98220 0.0:0.0:1.0:0.0 rs267561;rs572520;rs1223424;rs17036593;rs17852740;rs60380953;rs267561 507;507 Q13797;E9PDS3 ITA9_HUMAN;. E 507 ENSP00000397258:G507E;ENSP00000264741:G507E ENSP00000264741:G507E G + 2 0 ITGA9 37549955 1.000000 0.71417 0.999000 0.59377 0.481000 0.33189 7.753000 0.85153 2.775000 0.95449 0.655000 0.94253 GGA NOVEL ITGA9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253361.1 1 20.599158 KEEP 0 1 33 80 2713 GG 1 1 0 + 18 60 640 0 0 45.080327 215 60 8052 400 ENST00000264741.5 0.077253 1 ITGA9 3680 __UNKNOWN__ __UNKNOWN__ 3 37627112 37627112 __UNKNOWN__ Intron SNP T T C rs1155741|rs568338756 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:37627112T>C ENST00000264741.5 + 15 1945 ITGA9_ENST00000422441.1_Intron NM_002207.2 NP_002198.2 Q13797 ITA9_HUMAN integrin, alpha 9 NA NA axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|neutrophil chemotaxis (GO:0030593)|wound healing (GO:0042060) basal plasma membrane (GO:0009925)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|plasma membrane (GO:0005886) metal ion binding (GO:0046872) breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1) 44 KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197) CCATATTACATTCCAAGAAGG 0.383 NA T||| 2973 0.59365 0.6301 0.6254 5008 , , NA 18974 0.746 NA 0.6501 False NA ,,, NA NA NA 2504 0.3067 NA NA NA NA 0 T 1141,611 369,403,104 1364 1151 1216 1.8 0 3 dbSNP_87 1216 2580,1402 814,952,225 yes intron ITGA9 NM_002207.2 1183,1355,329 CC,CT,TT 35.2084,34.8744,35.1064 37627112 3721,2013 876 1991 2867 SO:0001627 intron_variant L24158 CCDS2669.1 3p21.3 2010-03-23 ENSG00000144668 ENSG00000144668 3680 Integrins 6145 protein-coding gene gene with protein product integrin, alpha 4-like 603963 NA 8245132, 8290272 Standard NM_002207 NM_002207 NA Approved RLC, ITGA4L, ALPHA-RLC uc003chd.3 Q13797 OTTHUMG00000130815 ENST00000264741.5:c.1689+43036T>C chr3.hg19:g.37627112T>C NA Q14638 hg19 CCDS2669.1 0.02 12.347472 ACAxTCC COVERED NOVEL ITGA9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253361.1 0 14.775439 KEEP 0 1 37 62 1922 TT 1 1 0 + 17 60 635 0 0 44.374005 244 60 8983 392 ENST00000264741.5 0.065134 1 ITGA9 3680 __UNKNOWN__ __UNKNOWN__ 3 37670876 37670876 __UNKNOWN__ Intron SNP G G C rs2282485 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:37670876G>C ENST00000264741.5 + 16 2095 ITGA9_ENST00000422441.1_Missense_Mutation_p.E630Q NM_002207.2 NP_002198.2 Q13797 ITA9_HUMAN integrin, alpha 9 NA NA axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|neutrophil chemotaxis (GO:0030593)|wound healing (GO:0042060) basal plasma membrane (GO:0009925)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|plasma membrane (GO:0005886) metal ion binding (GO:0046872) breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1) 44 KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197) CAGCTGCACAGAGCAGAAATA 0.532 NA g||| 912 0.182109 0.1331 0.1628 5008 , , NA 19019 0.2272 NA 0.2207 False NA ,,, NA NA NA 2504 0.1759 NA NA NA NA 0 G 604,3802 254.0+/-259.7 35,534,1634 26 25 25 -4.2 0 3 dbSNP_100 25 1678,6922 290.7+/-299.9 163,1352,2785 no intron ITGA9 NM_002207.2 198,1886,4419 CC,CG,GG 19.5116,13.7086,17.5457 37670876 2282,10724 2203 4300 6503 SO:0001627 intron_variant L24158 CCDS2669.1 3p21.3 2010-03-23 ENSG00000144668 ENSG00000144668 3680 Integrins 6145 protein-coding gene gene with protein product integrin, alpha 4-like 603963 NA 8245132, 8290272 Standard NM_002207 NM_002207 NA Approved RLC, ITGA4L, ALPHA-RLC uc003chd.3 Q13797 OTTHUMG00000130815 ENST00000264741.5:c.1839+49G>C chr3.hg19:g.37670876G>C NA Q14638 hg19 CCDS2669.1 0.02 7.2114 ACAxAGC COVERED 412 0.18864468864468864 67 0.13617886178861788 53 0.1464088397790055 119 0.20804195804195805 173 0.22823218997361477 g 10.41 1.342792 0.24339 0.137086 0.195116 ENSG00000144668 ENST00000422441 T 0.68624 -0.34 3.82 -4.18 0.03846 . . . . . T 0.00039 0.0001 . . . 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.15321 -1.0441 7 0.87932 D 0 . 6.1262 0.20180 0.0:0.2561:0.5315:0.2123 rs2282485;rs56446081;rs2282485 630 E9PDS3 . Q 630 ENSP00000397258:E630Q ENSP00000397258:E630Q E + 1 0 ITGA9 37645880 0.000000 0.05858 0.001000 0.08648 0.019000 0.09904 -3.136000 0.00588 -0.446000 0.07149 -0.123000 0.14984 GAG NOVEL ITGA9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253361.1 0 17.421977 KEEP 0 0 0 58 2032 GG 1 1 0 + 7 60 267 0 0 17.676617 147 60 5613 248 ENST00000264741.5 0.045455 1 ITGA9 3680 __UNKNOWN__ __UNKNOWN__ 3 37695192 37695192 __UNKNOWN__ Intron SNP G G A rs3821909 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:37695192G>A ENST00000264741.5 + 17 2095 NM_002207.2 NP_002198.2 Q13797 ITA9_HUMAN integrin, alpha 9 NA NA axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|neutrophil chemotaxis (GO:0030593)|wound healing (GO:0042060) basal plasma membrane (GO:0009925)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|plasma membrane (GO:0005886) metal ion binding (GO:0046872) breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1) 44 KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197) TTCCTCTCCTGTCTTTCTCAC 0.522 NA G||| 1323 0.264177 0.4236 0.1931 5008 , , NA 20806 0.2212 NA 0.2316 False NA ,,, NA NA NA 2504 0.1769 NA NA NA NA 0 G 1663,2743 508.3+/-366.9 308,1047,848 141 137 139 -4.1 0 3 dbSNP_107 139 1791,6809 322.5+/-315.6 198,1395,2707 no intron ITGA9 NM_002207.2 506,2442,3555 AA,AG,GG 20.8256,37.744,26.557 37695192 3454,9552 2203 4300 6503 SO:0001627 intron_variant L24158 CCDS2669.1 3p21.3 2010-03-23 ENSG00000144668 ENSG00000144668 3680 Integrins 6145 protein-coding gene gene with protein product integrin, alpha 4-like 603963 NA 8245132, 8290272 Standard NM_002207 NM_002207 NA Approved RLC, ITGA4L, ALPHA-RLC uc003chd.3 Q13797 OTTHUMG00000130815 ENST00000264741.5:c.1840-13G>A chr3.hg19:g.37695192G>A NA Q14638 hg19 CCDS2669.1 0.02 2.247015 CCTxTCT COVERED NOVEL ITGA9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253361.1 1 6.019478 KEEP 0 0 0 20 709 GG 0.999863 0.997761 0 + 7 60 234 0 0 16.7738 65 60 2500 108 ENST00000264741.5 0.097222 0.997898 ITGA9 3680 __UNKNOWN__ __UNKNOWN__ 3 37818805 37818805 __UNKNOWN__ Intron SNP G G C rs2276003 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:37818805G>C ENST00000264741.5 + 24 2797 AC093415.2_ENST00000438136.1_RNA NM_002207.2 NP_002198.2 Q13797 ITA9_HUMAN integrin, alpha 9 NA NA axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|neutrophil chemotaxis (GO:0030593)|wound healing (GO:0042060) basal plasma membrane (GO:0009925)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|plasma membrane (GO:0005886) metal ion binding (GO:0046872) breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1) 44 KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197) TACCACTCCTGCCTCTACAAT 0.468 NA G||| 1291 0.257788 0.385 0.147 5008 , , NA 18411 0.371 NA 0.2187 False NA ,,, NA NA NA 2504 0.0879 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L24158 CCDS2669.1 3p21.3 2010-03-23 ENSG00000144668 ENSG00000144668 3680 Integrins 6145 protein-coding gene gene with protein product integrin, alpha 4-like 603963 NA 8245132, 8290272 Standard NM_002207 NM_002207 NA Approved RLC, ITGA4L, ALPHA-RLC uc003chd.3 Q13797 OTTHUMG00000130815 ENST00000264741.5:c.2542-78G>C chr3.hg19:g.37818805G>C NA Q14638 hg19 CCDS2669.1 0.02 -0.386013 CCTxCCT COVERED NOVEL ITGA9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253361.1 0 3.310507 KEEP 0 0 0 11 379 GG 0.993072 0.91181 0 + 5 60 185 0 0 14.121016 39 60 1455 61 ENST00000264741.5 0.113636 0.918171 ITGA9 3680 __UNKNOWN__ __UNKNOWN__ 3 37861996 37861996 __UNKNOWN__ 3'UTR SNP C C T rs35309407 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:37861996C>T ENST00000264741.5 + 0 4880 AC093415.2_ENST00000430620.1_RNA|AC093415.2_ENST00000445429.1_RNA|AC093415.2_ENST00000457661.1_RNA|AC093415.2_ENST00000450990.1_RNA|AC093415.2_ENST00000438136.1_RNA|AC093415.2_ENST00000420870.1_RNA|AC093415.2_ENST00000608505.1_RNA|AC093415.2_ENST00000429532.1_RNA|AC093415.2_ENST00000366441.2_RNA NM_002207.2 NP_002198.2 Q13797 ITA9_HUMAN integrin, alpha 9 NA NA axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|neutrophil chemotaxis (GO:0030593)|wound healing (GO:0042060) basal plasma membrane (GO:0009925)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|plasma membrane (GO:0005886) metal ion binding (GO:0046872) breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1) 44 KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197) TGCTGAGTTACGGCCTTCAGT 0.478 NA T||| 581 0.116014 0.2095 0.0605 5008 , , NA 23241 0.1994 NA 0.0378 False NA ,,, NA NA NA 2504 0.0235 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L24158 CCDS2669.1 3p21.3 2010-03-23 ENSG00000144668 ENSG00000144668 3680 Integrins 6145 protein-coding gene gene with protein product integrin, alpha 4-like 603963 NA 8245132, 8290272 Standard NM_002207 NM_002207 NA Approved RLC, ITGA4L, ALPHA-RLC uc003chd.3 Q13797 OTTHUMG00000130815 ENST00000264741.5:c.*1516C>T chr3.hg19:g.37861996C>T NA Q14638 hg19 CCDS2669.1 0.02 10.825104 TTAxGGC COVERED NOVEL ITGA9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253361.1 1 14.144914 KEEP 0 0 0 47 1598 CC 1 1 0 + 14 60 511 0 0 34.019533 250 60 8660 373 ENST00000264741.5 0.05303 1 CTDSPL 10217 __UNKNOWN__ __UNKNOWN__ 3 38025713 38025713 __UNKNOWN__ 3'UTR SNP T T C rs76657333 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:38025713T>C ENST00000273179.5 + 0 4212 CTDSPL_ENST00000443503.2_3'UTR NM_001008392.1 NP_001008393.1 O15194 CTDSL_HUMAN CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase-like NA NA extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721) breast(1)|endometrium(2)|large_intestine(4)|skin(1) 8 Melanoma(1037;0.0122) KIRC - Kidney renal clear cell carcinoma(284;0.0729)|Kidney(284;0.0902) ACTTTGATCATGTCTGTTCCT 0.512 NA T||| 119 0.023762 0.0 0.0144 5008 , , NA 17917 0.1032 NA 0.002 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D88153 CCDS33734.1, CCDS33735.1 3p21.3 2010-06-21 2003-10-27 2003-10-29 ENSG00000144677 ENSG00000144677 10217 3.1.3.16 Serine/threonine phosphatases / CTD aspartate-based phosphatases 16890 protein-coding gene gene with protein product small CTD phosphatase 3, HYA22 protein, RB protein serine phosphatase from chromosome 3 608592 chromosome 3 open reading frame 8 C3orf8 NA 9179494, 12543795 Standard NM_005808 NM_005808 NA Approved HYA22, SCP3, PSR1, RBSP3 uc003chg.3 O15194 OTTHUMG00000155942 ENST00000273179.5:c.*3355T>C chr3.hg19:g.38025713T>C NA Q3ZTU0|Q70KI4|Q7Z5Q2 hg19 CCDS33734.1 0.02 34.346906 TCAxGTC COVERED NOVEL CTDSPL-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000342392.1 5 37.009532 KEEP 0 0 0 123 3838 TT 1 1 0 + 31 60 1088 0 0 66.594424 774 70 28536 1145 ENST00000273179.5 0.038509 1 VILL 50853 __UNKNOWN__ __UNKNOWN__ 3 38042444 38042444 __UNKNOWN__ Intron SNP G G A rs79162067 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:38042444G>A ENST00000283713.6 + 12 1448 VILL_ENST00000465644.1_Intron|VILL_ENST00000383759.2_Intron O15195 VILL_HUMAN villin-like NA NA actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010) actin cytoskeleton (GO:0015629) structural constituent of cytoskeleton (GO:0005200) cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2) 28 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) gagtccgcctggctccaggct 0.507 NA G||| 119 0.023762 0.0015 0.0173 5008 , , NA 20703 0.0992 NA 0.002 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS2670.2 3p21 2004-07-28 ENSG00000136059 ENSG00000136059 50853 30906 protein-coding gene gene with protein product NA 9179494 Standard NM_015873 XM_005265191 NA Approved uc003chl.3 O15195 OTTHUMG00000130814 ENST00000283713.6:c.1183-503G>A chr3.hg19:g.38042444G>A NA A8MZP1|Q9BT80|Q9BWH7 hg19 CCDS2670.2 0.02 16.118428 CCTxGCT COVERED NOVEL VILL-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253360.3 1 51.768921 KEEP 0 0 0 172 6146 GG 1 1 0 + 21 60 731 0 0 48.95628 331 60 12611 693 ENST00000283713.6 0.059659 1 VILL 50853 __UNKNOWN__ __UNKNOWN__ 3 38044128 38044128 __UNKNOWN__ Intron SNP G G A rs80087342 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:38044128G>A ENST00000283713.6 + 14 1925 VILL_ENST00000465644.1_Intron|VILL_ENST00000383759.2_Intron O15195 VILL_HUMAN villin-like NA NA actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010) actin cytoskeleton (GO:0015629) structural constituent of cytoskeleton (GO:0005200) cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2) 28 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) CTGGGGGTGGGTCCTCTCCAC 0.597 NA g||| 119 0.023762 0.0015 0.0173 5008 , , NA 19420 0.0992 NA 0.002 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS2670.2 3p21 2004-07-28 ENSG00000136059 ENSG00000136059 50853 30906 protein-coding gene gene with protein product NA 9179494 Standard NM_015873 XM_005265191 NA Approved uc003chl.3 O15195 OTTHUMG00000130814 ENST00000283713.6:c.1659+62G>A chr3.hg19:g.38044128G>A NA A8MZP1|Q9BT80|Q9BWH7 hg19 CCDS2670.2 0.02 8.367949 TGGxTCC COVERED NOVEL VILL-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253360.3 1 17.155051 KEEP 0 0 0 57 1997 GG 1 1 0 + 13 60 455 1 0 29.559782 236 60 8612 361 ENST00000283713.6 0.052209 1 OXSR1 9943 __UNKNOWN__ __UNKNOWN__ 3 38271881 38271881 __UNKNOWN__ Missense_Mutation SNP C C T rs6599079 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:38271881C>T ENST00000446845.1 + 10 1283 c.911C>T c.(910-912)aCa>aTa p.T304I OXSR1_ENST00000311806.3_Missense_Mutation_p.T304I oxidative stress responsive 1 NA NA skin(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) CAAGAAAAAACATTGCAGAGA 0.294 NA T||| 948 0.189297 0.4584 0.1369 5008 , , NA 19133 0.0764 NA 0.1133 False NA ,,, NA NA NA 2504 0.0573 NA NA NA NA 0 T ILE/THR 1730,2674 625.5+/-394.5 350,1030,822 60 74 69 911 4.8 1 3 dbSNP_116 69 923,7661 768.1+/-407.6 51,821,3420 yes missense OXSR1 NM_005109.2 89 401,1851,4242 TT,TC,CC 10.7526,39.2825,20.4265 benign 304/528 38271881 2653,10335 2202 4292 6494 SO:0001583 missense AB017642 CCDS2675.1 3p22.2 2013-05-17 2013-05-17 2004-11-26 ENSG00000172939 ENSG00000172939 9943 8508 protein-coding gene gene with protein product 604046 oxidative-stress responsive 1 OSR1 NA 10083736 Standard NM_005109 XM_005265638 NA Approved KIAA1101 uc003chy.3 O95747 OTTHUMG00000131084 ENST00000446845.1:c.911C>T chr3.hg19:g.38271881C>T ENSP00000415851:p.Thr304Ile NA hg19 0.02 2.194489 AAAxATT COVERED 389 0.17811355311355312 218 0.44308943089430897 41 0.1132596685082873 42 0.07342657342657342 88 0.11609498680738786 T 13.24 2.179419 0.38511 0.392825 0.107526 ENSG00000172939 ENST00000446845;ENST00000311806 T;T 0.21031 2.03;2.03 4.83 4.83 0.62350 Protein kinase-like domain (1); 0.207594 0.50627 N 0.000113 T 0.00012 0.0000 N 0.08118 0 0.58432 P 5.000000000032756E-6 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.47699 -0.9097 9 0.29301 T 0.29 -5.7071 10.0712 0.42335 0.0:0.0807:0.0:0.9193 rs6599079;rs52837488;rs56795373;rs6599079 304;304 C9JIG9;O95747 .;OXSR1_HUMAN I 304 ENSP00000415851:T304I;ENSP00000311713:T304I ENSP00000311713:T304I T + 2 0 OXSR1 38246885 1.000000 0.71417 0.977000 0.42913 0.980000 0.70556 5.172000 0.65003 0.798000 0.33994 -0.524000 0.04348 ACA NOVEL OXSR1-004 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000342708.1 1 6.621697 KEEP 0 0 0 22 787 CC 0.999879 0.998989 0 + 5 60 188 0 0 13.093476 74 60 2822 122 ENST00000446845.1 0.063291 0.99911 OXSR1 9943 __UNKNOWN__ __UNKNOWN__ 3 38289251 38289251 __UNKNOWN__ Intron SNP C C G rs3925158 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:38289251C>G ENST00000446845.1 + 14 1694 OXSR1_ENST00000311806.3_Intron oxidative stress responsive 1 NA NA skin(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) gttttgttttcttttgttttC 0.378 NA G||| 979 0.195487 0.4796 0.1383 5008 , , NA 23335 0.0764 NA 0.1153 False NA ,,, NA NA NA 2504 0.0573 NA NA NA NA 0 G 1837,2569 629.9+/-395.4 394,1049,760 80 70 73 -2.2 0 3 dbSNP_108 73 942,7658 768.2+/-407.6 53,836,3411 no intron OXSR1 NM_005109.2 447,1885,4171 GG,GC,CC 10.9535,41.6931,21.3671 38289251 2779,10227 2203 4300 6503 SO:0001627 intron_variant AB017642 CCDS2675.1 3p22.2 2013-05-17 2013-05-17 2004-11-26 ENSG00000172939 ENSG00000172939 9943 8508 protein-coding gene gene with protein product 604046 oxidative-stress responsive 1 OSR1 NA 10083736 Standard NM_005109 XM_005265638 NA Approved KIAA1101 uc003chy.3 O95747 OTTHUMG00000131084 ENST00000446845.1:c.1322+28C>G chr3.hg19:g.38289251C>G NA hg19 0.02 2.385386 TTTxTTT COVERED NOVEL OXSR1-004 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000342708.1 0 3.611417 KEEP 0 0 0 12 407 CC 0.993634 0.992857 0 + 6 60 227 0 0 16.309218 74 60 2825 96 ENST00000446845.1 0.075 0.999218 OXSR1 9943 __UNKNOWN__ __UNKNOWN__ 3 38291717 38291717 __UNKNOWN__ Intron SNP A A C rs34886276 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:38291717A>C ENST00000311806.3 + 15 1747 NM_005109.2 NP_005100.1 oxidative stress responsive 1 NA NA skin(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) ACAaacagtaataaatatatg 0.303 NA A||| 423 0.0844649 0.1762 0.0821 5008 , , NA 18387 0.0585 NA 0.0567 False NA ,,, NA NA NA 2504 0.0174 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB017642 CCDS2675.1 3p22.2 2013-05-17 2013-05-17 2004-11-26 ENSG00000172939 ENSG00000172939 9943 8508 protein-coding gene gene with protein product 604046 oxidative-stress responsive 1 OSR1 NA 10083736 Standard NM_005109 XM_005265638 NA Approved KIAA1101 uc003chy.3 O95747 OTTHUMG00000131084 ENST00000311806.3:c.1375+208A>C chr3.hg19:g.38291717A>C NA hg19 CCDS2675.1 0.02 1.798435 GTAxTAA COVERED NOVEL OXSR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253744.1 0 2.406146 KEEP 0 0 0 8 225 AA 0.99257 0.992407 0 + 5 60 189 0 0 12.901236 85 60 3080 100 ENST00000311806.3 0.055556 0.999835 OXSR1 9943 __UNKNOWN__ __UNKNOWN__ 3 38293904 38293904 __UNKNOWN__ Intron SNP G G A rs9880223 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:38293904G>A ENST00000311806.3 + 17 1881 NM_005109.2 NP_005100.1 oxidative stress responsive 1 NA NA skin(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) CTTCTTCCTTGTGAAAACATC 0.393 NA A||| 1053 0.210264 0.5303 0.1513 5008 , , NA 19881 0.0734 NA 0.1163 False NA ,,, NA NA NA 2504 0.0573 NA NA NA NA 0 A 2080,2326 604.1+/-390.3 502,1076,625 144 134 137 -7.1 0 3 dbSNP_119 137 940,7660 776.0+/-407.7 52,836,3412 no intron OXSR1 NM_005109.2 554,1912,4037 AA,AG,GG 10.9302,47.2084,23.2201 38293904 3020,9986 2203 4300 6503 SO:0001627 intron_variant AB017642 CCDS2675.1 3p22.2 2013-05-17 2013-05-17 2004-11-26 ENSG00000172939 ENSG00000172939 9943 8508 protein-coding gene gene with protein product 604046 oxidative-stress responsive 1 OSR1 NA 10083736 Standard NM_005109 XM_005265638 NA Approved KIAA1101 uc003chy.3 O95747 OTTHUMG00000131084 ENST00000311806.3:c.1509+21G>A chr3.hg19:g.38293904G>A NA hg19 CCDS2675.1 0.02 23.208786 CTTxTGA COVERED NOVEL OXSR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253744.1 9 25.281753 KEEP 0 0 0 84 2966 GG 1 1 0 + 26 60 959 1 0 63.237905 506 60 19321 765 ENST00000311806.3 0.048872 1 SLC22A14 9389 __UNKNOWN__ __UNKNOWN__ 3 38347633 38347633 __UNKNOWN__ Missense_Mutation SNP G G A rs34043027 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:38347633G>A ENST00000273173.4 + 1 207 c.116G>A c.(115-117)cGc>cAc p.R39H SLC22A14_ENST00000448498.1_Missense_Mutation_p.R39H NM_004803.3 NP_004794.2 Q9Y267 S22AE_HUMAN solute carrier family 22, member 14 39 NA organic cation transport (GO:0015695) integral component of plasma membrane (GO:0005887) organic cation transmembrane transporter activity (GO:0015101) central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696) ATGCTGTTACGCAGATTGAGG 0.537 NA G||| 376 0.0750799 0.0726 0.0605 5008 , , NA 22758 0.1617 NA 0.0596 False NA ,,, NA NA NA 2504 0.0153 NA NA NA NA 0 G HIS/ARG 320,4086 172.3+/-202.3 14,292,1897 187 166 173 116 -4.6 0 3 dbSNP_126 173 405,8195 129.5+/-187.6 12,381,3907 yes missense SLC22A14 NM_004803.3 29 26,673,5804 AA,AG,GG 4.7093,7.2628,5.5744 benign 39/595 38347633 725,12281 2203 4300 6503 SO:0001583 missense AB011082 CCDS2677.1 3p21.3 2013-05-22 2008-01-11 2003-10-15 ENSG00000144671 ENSG00000144671 9389 Solute carriers 8495 protein-coding gene gene with protein product 604048 organic cationic transporter-like 4, solute carrier family 22 (organic cation transporter), member 14 ORCTL4 NA 10072596 Standard NM_004803 NM_004803 NA Approved OCTL2 uc003cib.2 Q9Y267 OTTHUMG00000131082 ENST00000273173.4:c.116G>A chr3.hg19:g.38347633G>A ENSP00000273173:p.Arg39His NA A0AVS9|A1L4H6|B2RCX3|Q6DJT3 hg19 CCDS2677.1 0.02 14.718767 TACxCAG COVERED 197 0.0902014652014652 42 0.08536585365853659 19 0.052486187845303865 85 0.1486013986013986 51 0.06728232189973615 G 7.254 0.603853 0.14002 0.072628 0.047093 ENSG00000144671 ENST00000448498;ENST00000423219;ENST00000273173 T;T 0.36520 1.25;1.25 4.33 -4.6 0.03390 . 6.492390 0.00622 N 0.000455 T 0.00144 0.0004 L 0.32530 0.975 0.80722 P 0.0 B 0.06786 0.001 B 0.04013 0.001 T 0.09751 -1.0660 9 0.30078 T 0.28 . 6.9982 0.24795 0.5288:0.0:0.356:0.1152 rs34043027 39 Q9Y267 S22AE_HUMAN H 39 ENSP00000396283:R39H;ENSP00000273173:R39H ENSP00000273173:R39H R + 2 0 SLC22A14 38322637 0.000000 0.05858 0.000000 0.03702 0.002000 0.02628 -0.755000 0.04782 -1.068000 0.03156 -1.817000 0.00601 CGC NOVEL SLC22A14-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253742.3 2 9.33012 KEEP 0 0 0 31 1075 GG 0.999997 0.999997 0 + 17 60 611 0 0 39.176129 358 60 12708 468 ENST00000273173.4 0.045333 1 SLC22A14 9389 __UNKNOWN__ __UNKNOWN__ 3 38347851 38347851 __UNKNOWN__ Missense_Mutation SNP A A G rs2073714 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:38347851A>G ENST00000273173.4 + 1 425 c.334A>G c.(334-336)Aaa>Gaa p.K112E SLC22A14_ENST00000448498.1_Missense_Mutation_p.K112E NM_004803.3 NP_004794.2 Q9Y267 S22AE_HUMAN solute carrier family 22, member 14 112 NA K -> E (in dbSNP:rs2073714). organic cation transport (GO:0015695) integral component of plasma membrane (GO:0005887) organic cation transmembrane transporter activity (GO:0015101) central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696) CCACCTGTCCAAAGCTGAGCA 0.522 NA G||| 376 0.0750799 0.0726 0.0605 5008 , , NA 22352 0.1617 NA 0.0596 False NA ,,, NA NA NA 2504 0.0153 NA NA NA NA 0 G GLU/LYS 319,4087 796.9+/-415.4 14,291,1898 112 103 106 334 3.3 0 3 dbSNP_96 106 404,8196 801.0+/-407.4 12,380,3908 yes missense SLC22A14 NM_004803.3 56 26,671,5806 GG,GA,AA 4.6977,7.2401,5.559 benign 112/595 38347851 723,12283 2203 4300 6503 SO:0001583 missense AB011082 CCDS2677.1 3p21.3 2013-05-22 2008-01-11 2003-10-15 ENSG00000144671 ENSG00000144671 9389 Solute carriers 8495 protein-coding gene gene with protein product 604048 organic cationic transporter-like 4, solute carrier family 22 (organic cation transporter), member 14 ORCTL4 NA 10072596 Standard NM_004803 NM_004803 NA Approved OCTL2 uc003cib.2 Q9Y267 OTTHUMG00000131082 ENST00000273173.4:c.334A>G chr3.hg19:g.38347851A>G ENSP00000273173:p.Lys112Glu NA A0AVS9|A1L4H6|B2RCX3|Q6DJT3 hg19 CCDS2677.1 0.02 33.998531 TCCxAAG COVERED 197 0.0902014652014652 42 0.08536585365853659 19 0.052486187845303865 85 0.1486013986013986 51 0.06728232189973615 G 0.005 -2.124684 0.00342 0.072401 0.046977 ENSG00000144671 ENST00000448498;ENST00000423219;ENST00000273173 T;T 0.34275 1.37;1.37 5.5 3.35 0.38373 . 1.064140 0.07446 N 0.898203 T 0.00039 0.0001 N 0.00088 -2.19 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.24083 -1.0170 9 0.02654 T 1 . 9.9749 0.41777 0.2802:0.0:0.7198:0.0 rs2073714;rs56645827;rs2073714 112 Q9Y267 S22AE_HUMAN E 112 ENSP00000396283:K112E;ENSP00000273173:K112E ENSP00000273173:K112E K + 1 0 SLC22A14 38322855 0.000000 0.05858 0.002000 0.10522 0.012000 0.07955 0.093000 0.15086 0.822000 0.34565 -0.733000 0.03571 AAA NOVEL SLC22A14-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253742.3 4 13.540748 KEEP 0 0 0 45 1410 AA 1 1 0 + 44 60 1539 0 0 101.009014 755 60 27878 1045 ENST00000273173.4 0.055069 1 SLC22A14 9389 __UNKNOWN__ __UNKNOWN__ 3 38357817 38357817 __UNKNOWN__ Missense_Mutation SNP C C T rs2070492 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:38357817C>T ENST00000273173.4 + 9 1626 c.1535C>T c.(1534-1536)gCg>gTg p.A512V SLC22A14_ENST00000448498.1_Missense_Mutation_p.A512V NM_004803.3 NP_004794.2 Q9Y267 S22AE_HUMAN solute carrier family 22, member 14 512 NA A -> V (in dbSNP:rs2070492). organic cation transport (GO:0015695) integral component of plasma membrane (GO:0005887) organic cation transmembrane transporter activity (GO:0015101) central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696) ACTTTCAGGGCGACAGGTCTG 0.617 NA C||| 535 0.106829 0.0719 0.1499 5008 , , NA 17650 0.1647 NA 0.1143 False NA ,,, NA NA NA 2504 0.0562 NA NA NA NA 0 C VAL/ALA 325,4081 171.6+/-201.8 16,293,1894 76 67 70 1535 3.3 0 3 dbSNP_96 70 863,7737 194.2+/-239.7 53,757,3490 yes missense SLC22A14 NM_004803.3 64 69,1050,5384 TT,TC,CC 10.0349,7.3763,9.1342 possibly-damaging 512/595 38357817 1188,11818 2203 4300 6503 SO:0001583 missense AB011082 CCDS2677.1 3p21.3 2013-05-22 2008-01-11 2003-10-15 ENSG00000144671 ENSG00000144671 9389 Solute carriers 8495 protein-coding gene gene with protein product 604048 organic cationic transporter-like 4, solute carrier family 22 (organic cation transporter), member 14 ORCTL4 NA 10072596 Standard NM_004803 NM_004803 NA Approved OCTL2 uc003cib.2 Q9Y267 OTTHUMG00000131082 ENST00000273173.4:c.1535C>T chr3.hg19:g.38357817C>T ENSP00000273173:p.Ala512Val NA A0AVS9|A1L4H6|B2RCX3|Q6DJT3 hg19 CCDS2677.1 0.02 4.367586 GGGxGAC COVERED 264 0.12087912087912088 42 0.08536585365853659 47 0.1298342541436464 91 0.1590909090909091 84 0.11081794195250659 C 4.885 0.164525 0.09287 0.073763 0.100349 ENSG00000144671 ENST00000448498;ENST00000423219;ENST00000273173 T;T 0.61980 0.06;0.06 4.2 3.32 0.38043 Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1); 0.341437 0.30365 N 0.009781 T 0.00328 0.0010 L 0.54323 1.7 0.80722 P 0.0 P 0.51147 0.942 B 0.43445 0.42 T 0.12041 -1.0563 9 0.46703 T 0.11 . 9.6139 0.39679 0.2082:0.7918:0.0:0.0 rs2070492;rs61374957;rs2070492 512 Q9Y267 S22AE_HUMAN V 512;497;512 ENSP00000396283:A512V;ENSP00000273173:A512V ENSP00000273173:A512V A + 2 0 SLC22A14 38332821 0.006000 0.16342 0.035000 0.18076 0.003000 0.03518 0.679000 0.25291 1.340000 0.45581 -0.152000 0.13540 GCG NOVEL SLC22A14-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253742.3 1 3.611789 KEEP 0 0 0 12 427 CC 0.993634 0.993631 0 + 9 60 299 0 0 20.51122 106 60 3749 145 ENST00000273173.4 0.078261 0.999997 SCN5A 6331 __UNKNOWN__ __UNKNOWN__ 3 38591059 38591059 __UNKNOWN__ 3'UTR SNP G G A rs41310757 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:38591059G>A ENST00000455624.2 - 0 6729 SCN5A_ENST00000413689.1_3'UTR|SCN5A_ENST00000333535.4_3'UTR|SCN5A_ENST00000425664.1_3'UTR|SCN5A_ENST00000414099.2_3'UTR|SCN5A_ENST00000423572.2_3'UTR|SCN5A_ENST00000443581.1_3'UTR|SCN5A_ENST00000451551.2_3'UTR Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit NA NA AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005) caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518) ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006) NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909) CTGACAATATGACCTGCGTGA 0.572 NA G||| 573 0.114417 0.0688 0.0562 5008 , , NA 19709 0.253 NA 0.0855 False NA ,,, NA NA NA 2504 0.1043 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ310893 CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1 3p21 2014-09-17 2007-01-23 ENSG00000183873 ENSG00000183873 6331 Sodium channels, Voltage-gated ion channels / Sodium channels 10593 protein-coding gene gene with protein product long QT syndrome 3 600163 sodium channel, voltage-gated, type V, alpha (long QT syndrome 3) CMD1E NA 7842012, 15466643, 16382098 Standard NM_198056 NM_198056 NA Approved Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD uc021wvl.1 Q14524 OTTHUMG00000156166 ENST00000455624.2:c.*753C>T chr3.hg19:g.38591059G>A NA A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69 hg19 CCDS54570.1 0.02 12.958547 TATxACC COVERED NOVEL SCN5A-002 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000343215.2 0 9.631412 KEEP 0 0 0 32 1144 GG 0.999997 0.999997 0 - 16 60 566 0 0 36.520315 311 60 11833 434 ENST00000455624.2 0.04893 1 SCN10A 6336 __UNKNOWN__ __UNKNOWN__ 3 38763863 38763863 __UNKNOWN__ Silent SNP G G C rs6771157 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:38763863G>C ENST00000449082.2 - 19 3392 c.3393C>G c.(3391-3393)acC>acG p.T1131T NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1131 NA AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814) C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518) voltage-gated sodium channel activity (GO:0005248) NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313) ATGGACTCTTGGTGGTATCCA 0.547 NA G||| 1100 0.219649 0.121 0.121 5008 , , NA 20313 0.376 NA 0.2465 False NA ,,, NA NA NA 2504 0.2342 NA NA NA NA 0 G 626,3780 269.5+/-269.1 47,532,1624 166 143 151 3393 -1.6 0 3 dbSNP_116 151 2238,6362 379.8+/-339.4 288,1662,2350 no coding-synonymous SCN10A NM_006514.2 335,2194,3974 CC,CG,GG 26.0233,14.2079,22.0206 1131/1957 38763863 2864,10142 2203 4300 6503 SO:0001819 synonymous_variant AF117907 CCDS33736.1 3p22.2 2012-02-26 2007-01-23 ENSG00000185313 ENSG00000185313 6336 Sodium channels, Voltage-gated ion channels / Sodium channels 10582 protein-coding gene gene with protein product 604427 sodium channel, voltage-gated, type X, alpha polypeptide NA 9839820, 10198179, 16382098 Standard NM_006514 NM_006514 NA Approved Nav1.8, hPN3, SNS, PN3 uc003ciq.3 Q9Y5Y9 OTTHUMG00000048245 ENST00000449082.2:c.3393C>G chr3.hg19:g.38763863G>C NA A6NDQ1 hg19 CCDS33736.1 0.02 11.951234 CTTxGTG COVERED NOVEL SCN10A-001 KNOWN non_canonical_U12|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000109745.3 3 9.631544 KEEP 0 0 0 32 1145 GG 0.999997 0.999997 0 - 11 60 382 0 0 22.715512 306 60 11643 437 ENST00000449082.2 0.0347 1 SCN10A 6336 __UNKNOWN__ __UNKNOWN__ 3 38764998 38764998 __UNKNOWN__ Missense_Mutation SNP A A G rs12632942 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:38764998A>G ENST00000449082.2 - 18 3274 c.3275T>C c.(3274-3276)cTa>cCa p.L1092P NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1092 NA L -> P (in dbSNP:rs12632942). AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814) C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518) voltage-gated sodium channel activity (GO:0005248) NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313) ctcaggatctAGGCAGTCCAC 0.612 NA G||| 1100 0.219649 0.121 0.121 5008 , , NA 19013 0.376 NA 0.2465 False NA ,,, NA NA NA 2504 0.2342 NA NA NA NA 0 G PRO/LEU 625,3781 767.2+/-413.5 47,531,1625 77 65 69 3275 -0.5 0 3 dbSNP_120 69 2236,6364 705.7+/-405.5 288,1660,2352 yes missense SCN10A NM_006514.2 98 335,2191,3977 GG,GA,AA 26.0,14.1852,21.9975 benign 1092/1957 38764998 2861,10145 2203 4300 6503 SO:0001583 missense AF117907 CCDS33736.1 3p22.2 2012-02-26 2007-01-23 ENSG00000185313 ENSG00000185313 6336 Sodium channels, Voltage-gated ion channels / Sodium channels 10582 protein-coding gene gene with protein product 604427 sodium channel, voltage-gated, type X, alpha polypeptide NA 9839820, 10198179, 16382098 Standard NM_006514 NM_006514 NA Approved Nav1.8, hPN3, SNS, PN3 uc003ciq.3 Q9Y5Y9 OTTHUMG00000048245 ENST00000449082.2:c.3275T>C chr3.hg19:g.38764998A>G ENSP00000390600:p.Leu1092Pro NA A6NDQ1 hg19 CCDS33736.1 0.02 12.438865 TCTxGGC COVERED 518 0.23717948717948717 53 0.10772357723577236 48 0.13259668508287292 237 0.4143356643356643 180 0.23746701846965698 G 7.645 0.681641 0.14907 0.141852 0.26 ENSG00000185313 ENST00000449082 D 0.83419 -1.72 4.65 -0.53 0.11898 Sodium ion transport-associated (1); 0.254741 0.39544 N 0.001332 T 0.00012 0.0000 N 0.08118 0 0.54753 P 1.799999999996249E-5 B 0.02656 0.0 B 0.01281 0.0 T 0.30736 -0.9968 9 0.19147 T 0.46 . 11.785 0.52037 0.2804:0.0:0.7196:0.0 rs12632942;rs52795271;rs61060144;rs12632942 1092 Q9Y5Y9 SCNAA_HUMAN P 1092 ENSP00000390600:L1092P ENSP00000390600:L1092P L - 2 0 SCN10A 38740002 0.004000 0.15560 0.010000 0.14722 0.896000 0.52359 0.034000 0.13776 -0.637000 0.05516 -0.227000 0.12334 CTA NOVEL SCN10A-001 KNOWN non_canonical_U12|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000109745.3 1 12.036983 KEEP 0 0 0 40 1272 AA 1 1 0 - 15 60 552 0 0 37.435224 246 60 9042 376 ENST00000449082.2 0.057471 1 SCN10A 6336 __UNKNOWN__ __UNKNOWN__ 3 38768247 38768247 __UNKNOWN__ Silent SNP G G A rs59468016 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:38768247G>A ENST00000449082.2 - 16 2936 c.2937C>T c.(2935-2937)ggC>ggT p.G979G NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 979 NA AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814) C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518) voltage-gated sodium channel activity (GO:0005248) NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313) CATCCCTGGGGCCTCTGGGAG 0.567 NA G||| 954 0.190495 0.0151 0.1081 5008 , , NA 19690 0.373 NA 0.2525 False NA ,,, NA NA NA 2504 0.2342 NA NA NA NA 0 G 224,4182 133.7+/-170.0 7,210,1986 68 67 68 2937 1.1 0.6 3 dbSNP_129 68 2248,6352 381.0+/-339.9 295,1658,2347 no coding-synonymous SCN10A NM_006514.2 302,1868,4333 AA,AG,GG 26.1395,5.084,19.0066 979/1957 38768247 2472,10534 2203 4300 6503 SO:0001819 synonymous_variant AF117907 CCDS33736.1 3p22.2 2012-02-26 2007-01-23 ENSG00000185313 ENSG00000185313 6336 Sodium channels, Voltage-gated ion channels / Sodium channels 10582 protein-coding gene gene with protein product 604427 sodium channel, voltage-gated, type X, alpha polypeptide NA 9839820, 10198179, 16382098 Standard NM_006514 NM_006514 NA Approved Nav1.8, hPN3, SNS, PN3 uc003ciq.3 Q9Y5Y9 OTTHUMG00000048245 ENST00000449082.2:c.2937C>T chr3.hg19:g.38768247G>A NA A6NDQ1 hg19 CCDS33736.1 0.02 14.927017 GGGxCCT COVERED NOVEL SCN10A-001 KNOWN non_canonical_U12|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000109745.3 1 7.524468 KEEP 0 0 0 25 895 GG 0.999931 0.999931 0 - 20 60 717 0 0 47.348538 355 60 13057 471 ENST00000449082.2 0.053333 1 SCN10A 6336 __UNKNOWN__ __UNKNOWN__ 3 38768300 38768300 __UNKNOWN__ Missense_Mutation SNP T T C rs57326399 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:38768300T>C ENST00000449082.2 - 16 2883 c.2884A>G c.(2884-2886)Att>Gtt p.I962V NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 962 NA AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814) C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518) voltage-gated sodium channel activity (GO:0005248) p.I962V(1) NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313) TTGGCAGCAATGTGGTTCTCA 0.602 NA C||| 1055 0.210663 0.0862 0.1153 5008 , , NA 19922 0.373 NA 0.2545 False NA ,,, NA NA NA 2504 0.2342 NA NA NA NA 1 Substitution - Missense(1) prostate(1) C VAL/ILE 482,3924 782.1+/-414.5 24,434,1745 60 62 61 2884 -4.2 0.1 3 dbSNP_129 61 2253,6347 708.4+/-405.7 296,1661,2343 yes missense SCN10A NM_006514.2 29 320,2095,4088 CC,CT,TT 26.1977,10.9396,21.0288 benign 962/1957 38768300 2735,10271 2203 4300 6503 SO:0001583 missense AF117907 CCDS33736.1 3p22.2 2012-02-26 2007-01-23 ENSG00000185313 ENSG00000185313 6336 Sodium channels, Voltage-gated ion channels / Sodium channels 10582 protein-coding gene gene with protein product 604427 sodium channel, voltage-gated, type X, alpha polypeptide NA 9839820, 10198179, 16382098 Standard NM_006514 NM_006514 NA Approved Nav1.8, hPN3, SNS, PN3 uc003ciq.3 Q9Y5Y9 OTTHUMG00000048245 ENST00000449082.2:c.2884A>G chr3.hg19:g.38768300T>C ENSP00000390600:p.Ile962Val NA A6NDQ1 hg19 CCDS33736.1 0.02 12.616347 CAAxGTG COVERED 504 0.23076923076923078 35 0.07113821138211382 47 0.1298342541436464 231 0.40384615384615385 191 0.2519788918205805 C 10.05 1.245153 0.22796 0.109396 0.261977 ENSG00000185313 ENST00000449082 D 0.83837 -1.77 5.2 -4.17 0.03857 Sodium ion transport-associated (1); 6.869170 0.00447 N 0.000087 T 0.00012 0.0000 N 0.14661 0.345 0.80722 P 0.0 B 0.34103 0.437 B 0.33799 0.17 T 0.04522 -1.0945 9 0.49607 T 0.09 . 6.3619 0.21433 0.0:0.2379:0.3312:0.4309 rs57326399;rs62242441 962 Q9Y5Y9 SCNAA_HUMAN V 962 ENSP00000390600:I962V ENSP00000390600:I962V I - 1 0 SCN10A 38743304 0.000000 0.05858 0.093000 0.20910 0.059000 0.15707 0.052000 0.14163 -0.612000 0.05701 -1.337000 0.01257 ATT NOVEL SCN10A-001 KNOWN non_canonical_U12|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000109745.3 1 6.619779 KEEP 0 0 0 22 685 TT 0.999879 0.999879 0 - 15 60 521 0 0 32.736879 317 60 11617 406 ENST00000449082.2 0.045181 1 SCN10A 6336 __UNKNOWN__ __UNKNOWN__ 3 38793989 38793989 __UNKNOWN__ Silent SNP G G A rs7617919 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:38793989G>A ENST00000449082.2 - 11 1475 c.1476C>T c.(1474-1476)ctC>ctT p.L492L NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 492 NA AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814) C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518) voltage-gated sodium channel activity (GO:0005248) NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313) TTCCAGAGGCGAGGCCTAGAA 0.552 NA G||| 1040 0.207668 0.0787 0.1052 5008 , , NA 18386 0.373 NA 0.2495 False NA ,,, NA NA NA 2504 0.2413 NA NA NA NA 0 G 471,3935 26,419,1758 23 25 25 1476 -5.6 0 3 dbSNP_116 25 2169,6429 280,1609,2410 no coding-synonymous SCN10A NM_006514.2 306,2028,4168 AA,AG,GG 25.2268,10.69,20.3014 492/1957 38793989 2640,10364 2203 4299 6502 SO:0001819 synonymous_variant AF117907 CCDS33736.1 3p22.2 2012-02-26 2007-01-23 ENSG00000185313 ENSG00000185313 6336 Sodium channels, Voltage-gated ion channels / Sodium channels 10582 protein-coding gene gene with protein product 604427 sodium channel, voltage-gated, type X, alpha polypeptide NA 9839820, 10198179, 16382098 Standard NM_006514 NM_006514 NA Approved Nav1.8, hPN3, SNS, PN3 uc003ciq.3 Q9Y5Y9 OTTHUMG00000048245 ENST00000449082.2:c.1476C>T chr3.hg19:g.38793989G>A NA A6NDQ1 hg19 CCDS33736.1 0.02 6.974568 GGCxAGG COVERED NOVEL SCN10A-001 KNOWN non_canonical_U12|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000109745.3 0 7.824433 KEEP 0 0 0 26 866 GG 0.999957 0.999957 0 - 13 60 480 0 0 33.901184 168 60 6265 262 ENST00000449082.2 0.071823 1 SCN10A 6336 __UNKNOWN__ __UNKNOWN__ 3 38802251 38802251 __UNKNOWN__ Intron SNP A A G rs7641844 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:38802251A>G ENST00000449082.2 - 7 883 NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit NA NA AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814) C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518) voltage-gated sodium channel activity (GO:0005248) NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313) GAAGAAAGGAAGAAAAGAAAG 0.458 NA A||| 1947 0.388778 0.3275 0.2522 5008 , , NA 20125 0.6815 NA 0.2793 False NA ,,, NA NA NA 2504 0.3793 NA NA NA NA 0 A 1546,2860 482.3+/-359.4 305,936,962 72 68 69 1.3 0.7 3 dbSNP_116 69 2430,6170 395.6+/-345.1 330,1770,2200 no intron SCN10A NM_006514.2 635,2706,3162 GG,GA,AA 28.2558,35.0885,30.5705 38802251 3976,9030 2203 4300 6503 SO:0001627 intron_variant AF117907 CCDS33736.1 3p22.2 2012-02-26 2007-01-23 ENSG00000185313 ENSG00000185313 6336 Sodium channels, Voltage-gated ion channels / Sodium channels 10582 protein-coding gene gene with protein product 604427 sodium channel, voltage-gated, type X, alpha polypeptide NA 9839820, 10198179, 16382098 Standard NM_006514 NM_006514 NA Approved Nav1.8, hPN3, SNS, PN3 uc003ciq.3 Q9Y5Y9 OTTHUMG00000048245 ENST00000449082.2:c.884-13T>C chr3.hg19:g.38802251A>G NA A6NDQ1 hg19 CCDS33736.1 0.02 4.769422 GGAxGAA COVERED NOVEL SCN10A-001 KNOWN non_canonical_U12|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000109745.3 0 2.707434 KEEP 0 0 0 9 272 AA 0.99254 0.99254 0 - 12 60 453 0 0 33.818832 114 60 4273 158 ENST00000449082.2 0.095238 1 SCN11A 11280 __UNKNOWN__ __UNKNOWN__ 3 38888021 38888021 __UNKNOWN__ 3'UTR SNP T T C rs4234133 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:38888021T>C ENST00000302328.3 - 0 5738 SCN11A_ENST00000450244.1_3'UTR NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit NA NA cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814) C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518) voltage-gated sodium channel activity (GO:0005248) NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909) CTGTAAGTATTATTTAAAATG 0.333 NA C||| 2768 0.552716 0.8033 0.4395 5008 , , NA 21622 0.5109 NA 0.4901 False NA ,,, NA NA NA 2504 0.4018 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF126739 CCDS33737.1 3p22.2 2012-02-26 2007-01-23 ENSG00000168356 ENSG00000168356 11280 Sodium channels, Voltage-gated ion channels / Sodium channels 10583 protein-coding gene gene with protein product 604385 sodium channel, voltage-gated, type XI, alpha polypeptide, sodium channel, voltage-gated, type XII, alpha SCN12A NA 10444332, 16382098 Standard NM_014139 NM_014139 NA Approved Nav1.9, NaN, SNS-2 uc021wvy.1 Q9UI33 OTTHUMG00000048246 ENST00000302328.3:c.*164A>G chr3.hg19:g.38888021T>C NA A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0 hg19 CCDS33737.1 0.02 4.522844 TATxATT COVERED NOVEL SCN11A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000109746.4 2 5.416131 KEEP 0 0 0 18 553 TT 0.999859 0.999858 0 - 7 60 252 0 0 16.966692 113 60 4008 156 ENST00000302328.3 0.058333 0.999999 SCN11A 11280 __UNKNOWN__ __UNKNOWN__ 3 38936134 38936134 __UNKNOWN__ Missense_Mutation SNP C C T rs33985936 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:38936134C>T ENST00000302328.3 - 15 2923 c.2725G>A c.(2725-2727)Gtc>Atc p.V909I SCN11A_ENST00000444237.2_Missense_Mutation_p.V909I|SCN11A_ENST00000456224.3_Missense_Mutation_p.V909I|SCN11A_ENST00000450244.1_Missense_Mutation_p.V909I NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 909 NA V -> I (in dbSNP:rs33985936). cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814) C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518) voltage-gated sodium channel activity (GO:0005248) NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909) TCATGCCTGACGCCCAGGGTC 0.507 NA C||| 769 0.153554 0.0749 0.2248 5008 , , NA 20781 0.12 NA 0.2376 False NA ,,, NA NA NA 2504 0.1575 NA NA NA NA 0 C ILE/VAL 553,3853 249.3+/-256.8 30,493,1680 137 130 132 2725 -9.1 0 3 dbSNP_126 132 2108,6492 363.0+/-333.0 272,1564,2464 yes missense SCN11A NM_014139.2 29 302,2057,4144 TT,TC,CC 24.5116,12.5511,20.4598 benign 909/1792 38936134 2661,10345 2203 4300 6503 SO:0001583 missense AF126739 CCDS33737.1 3p22.2 2012-02-26 2007-01-23 ENSG00000168356 ENSG00000168356 11280 Sodium channels, Voltage-gated ion channels / Sodium channels 10583 protein-coding gene gene with protein product 604385 sodium channel, voltage-gated, type XI, alpha polypeptide, sodium channel, voltage-gated, type XII, alpha SCN12A NA 10444332, 16382098 Standard NM_014139 NM_014139 NA Approved Nav1.9, NaN, SNS-2 uc021wvy.1 Q9UI33 OTTHUMG00000048246 ENST00000302328.3:c.2725G>A chr3.hg19:g.38936134C>T ENSP00000307599:p.Val909Ile NA A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0 hg19 CCDS33737.1 0.02 8.687099 TGAxGCC COVERED 362 0.16575091575091574 41 0.08333333333333333 78 0.2154696132596685 62 0.10839160839160839 181 0.23878627968337732 C 6.773 0.511621 0.12944 0.125511 0.245116 ENSG00000168356 ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237 D;D;D;D 0.83163 -1.69;-1.69;-1.69;-1.69 4.53 -9.06 0.00727 Sodium ion transport-associated (1); 3.067170 0.00864 N 0.001956 T 0.00039 0.0001 N 0.14661 0.345 0.80722 P 0.0 B 0.06786 0.001 B 0.04013 0.001 T 0.05649 -1.0872 9 0.24483 T 0.36 . 9.7812 0.40649 0.0:0.6478:0.1818:0.1704 rs33985936;rs59878058 909 Q9UI33 SCNBA_HUMAN I 909 ENSP00000307599:V909I;ENSP00000400945:V909I;ENSP00000416757:V909I;ENSP00000408028:V909I ENSP00000307599:V909I V - 1 0 SCN11A 38911138 0.000000 0.05858 0.000000 0.03702 0.012000 0.07955 -2.830000 0.00744 -1.817000 0.01219 -1.027000 0.02421 GTC NOVEL SCN11A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000109746.4 0 6.32024 KEEP 0 0 0 21 713 CC 0.999869 0.999869 0 - 9 60 325 0 0 20.411155 215 60 7490 304 ENST00000302328.3 0.040179 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 39046651 39046651 __UNKNOWN__ IGR SNP G G A rs35375016 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:39046651G>A NA NA SCN11A (54599 upstream) : RNU6-1227P (20826 downstream) NA NA NA gaataacatcggtttttaagt 0.483 NA G||| 740 0.147764 0.2322 0.1744 5008 , , NA 19207 0.127 NA 0.1143 False NA ,,, NA NA NA 2504 0.0706 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.39046651G>A NA hg19 0.02 2.364467 ATCxGTT COVERED NOVEL 0 1 4.213665 KEEP 2 0 0 14 486 GG 0.995343 0.992519 0 9 47 352 0 0 27.772402 62 60 2196 109 0.126761 0.997163 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 39046728 39046728 __UNKNOWN__ IGR SNP C C T rs13082824 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:39046728C>T NA NA SCN11A (54676 upstream) : RNU6-1227P (20749 downstream) NA NA NA ggcctggcgccgggctgcctg 0.433 NA C||| 730 0.145767 0.2247 0.1744 5008 , , NA 18235 0.127 NA 0.1143 False NA ,,, NA NA NA 2504 0.0706 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.39046728C>T NA hg19 0.02 -0.306601 CGCxGGG COVERED NOVEL 0 0 2.407079 KEEP 0 0 0 8 252 CC 0.99257 0.7943 0 3 60 105 0 0 7.489102 32 60 995 46 0.085714 0.800245 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 39093326 39093326 __UNKNOWN__ IGR SNP G G A rs6599003 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:39093326G>A NA NA RNU6-1227P (25742 upstream) : WDR48 (162 downstream) NA NA NA TACTTGCACAGTGGTTTTGTT 0.507 NA A||| 2240 0.447284 0.8396 0.3228 5008 , , NA 20147 0.3403 NA 0.3241 False NA ,,, NA NA NA 2504 0.2423 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.39093326G>A NA hg19 0.02 5.929124 ACAxTGG COVERED NOVEL 0 0 13.844843 KEEP 0 0 0 46 1621 GG 1 1 0 10 60 341 0 0 21.736765 188 60 7065 256 0.050505 1 WDR48 57599 __UNKNOWN__ __UNKNOWN__ 3 39110246 39110246 __UNKNOWN__ Intron SNP C C T rs12635796 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:39110246C>T ENST00000302313.5 + 6 509 WDR48_ENST00000544962.1_Intron|WDR48_ENST00000396258.3_Intron|WDR48_ENST00000418020.1_Intron NM_020839.2 NP_065890.1 Q8TAF3 WDR48_HUMAN WD repeat domain 48 NA NA double-strand break repair via homologous recombination (GO:0000724)|embryonic organ development (GO:0048568)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|positive regulation of epithelial cell proliferation (GO:0050679)|protein deubiquitination (GO:0016579)|regulation of protein monoubiquitination (GO:1902525)|seminiferous tubule development (GO:0072520)|single fertilization (GO:0007338)|skeletal system morphogenesis (GO:0048705)|skin development (GO:0043588)|spermatogenesis (GO:0007283)|viral process (GO:0016032) intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634) breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) CATTTAGCTCCGTTTATCCTC 0.353 NA C||| 537 0.107228 0.0908 0.1571 5008 , , NA 14844 0.127 NA 0.1123 False NA ,,, NA NA NA 2504 0.0685 NA NA NA NA 0 C 435,3971 209.5+/-230.2 23,389,1791 118 124 122 -0.6 0 3 dbSNP_120 122 982,7618 212.2+/-252.6 65,852,3383 no intron WDR48 NM_020839.2 88,1241,5174 TT,TC,CC 11.4186,9.8729,10.895 39110246 1417,11589 2203 4300 6503 SO:0001627 intron_variant AF468833 CCDS33738.1 3p21.33 2014-06-16 ENSG00000114742 ENSG00000114742 57599 WD repeat domain containing 30914 protein-coding gene gene with protein product 612167 NA 10819331, 12196293, 24482476 Standard NM_020839 NM_020839 NA Approved KIAA1449, P80, SPG60 uc003cit.3 Q8TAF3 OTTHUMG00000155972 ENST00000302313.5:c.482-16C>T chr3.hg19:g.39110246C>T NA B4DM86|B4DQI2|B4DY84|Q63HJ2|Q658Y1|Q8N3Z1|Q9NSK8|Q9P279 hg19 CCDS33738.1 0.02 7.218504 CTCxGTT COVERED NOVEL WDR48-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000342529.1 2 12.038767 KEEP 0 0 0 40 1371 CC 1 1 0 + 8 60 314 0 0 21.087141 168 60 5869 271 ENST00000302313.5 0.045455 1 WDR48 57599 __UNKNOWN__ __UNKNOWN__ 3 39111140 39111140 __UNKNOWN__ Silent SNP C C A rs2293312 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:39111140C>A ENST00000302313.5 + 7 605 c.577C>A c.(577-579)Cgg>Agg p.R193R WDR48_ENST00000544962.1_Intron|WDR48_ENST00000396258.3_Silent_p.R111R|WDR48_ENST00000418020.1_5'UTR NM_020839.2 NP_065890.1 Q8TAF3 WDR48_HUMAN WD repeat domain 48 193 NA double-strand break repair via homologous recombination (GO:0000724)|embryonic organ development (GO:0048568)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|positive regulation of epithelial cell proliferation (GO:0050679)|protein deubiquitination (GO:0016579)|regulation of protein monoubiquitination (GO:1902525)|seminiferous tubule development (GO:0072520)|single fertilization (GO:0007338)|skeletal system morphogenesis (GO:0048705)|skin development (GO:0043588)|spermatogenesis (GO:0007283)|viral process (GO:0016032) intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634) breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) ACAGGTGTTACGGGTATGGGA 0.338 NA A||| 2239 0.447085 0.8396 0.3242 5008 , , NA 17000 0.3403 NA 0.3231 False NA ,,, NA NA NA 2504 0.2413 NA NA NA NA 0 A 3318,1088 392.6+/-328.5 1249,820,134 122 120 121 577 3.1 1 3 dbSNP_100 121 2785,5815 678.7+/-403.5 470,1845,1985 no coding-synonymous WDR48 NM_020839.2 1719,2665,2119 AA,AC,CC 32.3837,24.6936,46.9245 193/678 39111140 6103,6903 2203 4300 6503 SO:0001819 synonymous_variant AF468833 CCDS33738.1 3p21.33 2014-06-16 ENSG00000114742 ENSG00000114742 57599 WD repeat domain containing 30914 protein-coding gene gene with protein product 612167 NA 10819331, 12196293, 24482476 Standard NM_020839 NM_020839 NA Approved KIAA1449, P80, SPG60 uc003cit.3 Q8TAF3 OTTHUMG00000155972 ENST00000302313.5:c.577C>A chr3.hg19:g.39111140C>A NA B4DM86|B4DQI2|B4DY84|Q63HJ2|Q658Y1|Q8N3Z1|Q9NSK8|Q9P279 hg19 CCDS33738.1 0.02 17.978254 TTAxGGG COVERED NOVEL WDR48-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000342529.1 1 21.067197 KEEP 0 0 0 70 2387 CC 1 1 0 + 15 60 508 0 0 29.690591 442 60 16082 636 ENST00000302313.5 0.032823 1 WDR48 57599 __UNKNOWN__ __UNKNOWN__ 3 39119615 39119615 __UNKNOWN__ Intron SNP T T C rs13077476 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:39119615T>C ENST00000302313.5 + 10 1000 WDR48_ENST00000544962.1_Intron|WDR48_ENST00000396258.3_Intron|WDR48_ENST00000418020.1_Intron NM_020839.2 NP_065890.1 Q8TAF3 WDR48_HUMAN WD repeat domain 48 NA NA double-strand break repair via homologous recombination (GO:0000724)|embryonic organ development (GO:0048568)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|positive regulation of epithelial cell proliferation (GO:0050679)|protein deubiquitination (GO:0016579)|regulation of protein monoubiquitination (GO:1902525)|seminiferous tubule development (GO:0072520)|single fertilization (GO:0007338)|skeletal system morphogenesis (GO:0048705)|skin development (GO:0043588)|spermatogenesis (GO:0007283)|viral process (GO:0016032) intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634) breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) AATAACAAATTTTGTAATTTT 0.328 NA T||| 728 0.145367 0.2239 0.1744 5008 , , NA 16929 0.127 NA 0.1143 False NA ,,, NA NA NA 2504 0.0695 NA NA NA NA 0 T 882,3524 299.3+/-285.7 101,680,1422 46 51 50 5.1 0.1 3 dbSNP_121 50 1000,7596 204.0+/-246.8 66,868,3364 no intron WDR48 NM_020839.2 167,1548,4786 CC,CT,TT 11.6333,20.0182,14.4747 39119615 1882,11120 2203 4298 6501 SO:0001627 intron_variant AF468833 CCDS33738.1 3p21.33 2014-06-16 ENSG00000114742 ENSG00000114742 57599 WD repeat domain containing 30914 protein-coding gene gene with protein product 612167 NA 10819331, 12196293, 24482476 Standard NM_020839 NM_020839 NA Approved KIAA1449, P80, SPG60 uc003cit.3 Q8TAF3 OTTHUMG00000155972 ENST00000302313.5:c.973-13T>C chr3.hg19:g.39119615T>C NA B4DM86|B4DQI2|B4DY84|Q63HJ2|Q658Y1|Q8N3Z1|Q9NSK8|Q9P279 hg19 CCDS33738.1 0.02 4.728269 AATxTTG COVERED NOVEL WDR48-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000342529.1 0 7.521986 KEEP 0 0 0 25 769 TT 0.999931 0.999922 0 + 5 60 183 0 0 11.89951 103 60 3671 158 ENST00000302313.5 0.046296 0.999991 WDR48 57599 __UNKNOWN__ __UNKNOWN__ 3 39129742 39129742 __UNKNOWN__ Intron SNP A A C rs3736573 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:39129742A>C ENST00000302313.5 + 15 1608 WDR48_ENST00000544962.1_Intron|WDR48_ENST00000396258.3_Intron|WDR48_ENST00000418020.1_Intron NM_020839.2 NP_065890.1 Q8TAF3 WDR48_HUMAN WD repeat domain 48 NA NA double-strand break repair via homologous recombination (GO:0000724)|embryonic organ development (GO:0048568)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|positive regulation of epithelial cell proliferation (GO:0050679)|protein deubiquitination (GO:0016579)|regulation of protein monoubiquitination (GO:1902525)|seminiferous tubule development (GO:0072520)|single fertilization (GO:0007338)|skeletal system morphogenesis (GO:0048705)|skin development (GO:0043588)|spermatogenesis (GO:0007283)|viral process (GO:0016032) intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634) breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) TAAGAAAGACAAGAGGTTCTG 0.423 NA C||| 2384 0.476038 0.8941 0.3271 5008 , , NA 19065 0.4702 NA 0.2763 False NA ,,, NA NA NA 2504 0.228 NA NA NA NA 0 C 3543,863 334.1+/-303.3 1434,675,94 72 69 70 -1 0 3 dbSNP_107 70 2424,6176 695.8+/-404.8 372,1680,2248 no intron WDR48 NM_020839.2 1806,2355,2342 CC,CA,AA 28.186,19.5869,45.8788 39129742 5967,7039 2203 4300 6503 SO:0001627 intron_variant AF468833 CCDS33738.1 3p21.33 2014-06-16 ENSG00000114742 ENSG00000114742 57599 WD repeat domain containing 30914 protein-coding gene gene with protein product 612167 NA 10819331, 12196293, 24482476 Standard NM_020839 NM_020839 NA Approved KIAA1449, P80, SPG60 uc003cit.3 Q8TAF3 OTTHUMG00000155972 ENST00000302313.5:c.1580+18A>C chr3.hg19:g.39129742A>C NA B4DM86|B4DQI2|B4DY84|Q63HJ2|Q658Y1|Q8N3Z1|Q9NSK8|Q9P279 hg19 CCDS33738.1 0.02 10.045696 GACxAGA COVERED NOVEL WDR48-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000342529.1 2 14.141358 KEEP 0 0 0 47 1456 AA 1 1 0 + 15 60 560 0 0 39.475974 202 60 7340 340 ENST00000302313.5 0.069124 1 GORASP1 64689 __UNKNOWN__ __UNKNOWN__ 3 39144910 39144910 __UNKNOWN__ Intron SNP A A G rs2293308 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:39144910A>G ENST00000422110.2 - 2 160 GORASP1_ENST00000479927.1_Intron|GORASP1_ENST00000319283.3_Intron NM_001278790.1 NP_001265719.1 Q9BQQ3 GORS1_HUMAN golgi reassembly stacking protein 1, 65kDa NA NA Golgi organization (GO:0007030)|mitotic cell cycle (GO:0000278)|negative regulation of dendrite morphogenesis (GO:0050774)|protein transport (GO:0015031) Golgi membrane (GO:0000139) central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(1)|ovary(3)|urinary_tract(1) 14 KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653) GGGACAGATGAAGACACACAA 0.547 NA G||| 1089 0.217452 0.4803 0.2032 5008 , , NA 19429 0.127 NA 0.1173 False NA ,,, NA NA NA 2504 0.0685 NA NA NA NA 0 G 606,778 127,352,213 52 56 55 -0.5 0 3 dbSNP_100 55 389,2793 25,339,1227 no intron GORASP1 NM_031899.2 152,691,1440 GG,GA,AA 12.225,43.7861,21.7915 39144910 995,3571 692 1591 2283 SO:0001627 intron_variant AJ409349 CCDS2681.1, CCDS63596.1, CCDS63597.1 3p22-p21.33 2008-04-23 2002-08-29 2002-05-24 ENSG00000114745 ENSG00000114745 64689 16769 protein-coding gene gene with protein product 606867 golgi phosphoprotein 5 GOLPH5 NA Standard NM_001278789 NA Approved GRASP65, P65, FLJ23443 uc003ciw.1 Q9BQQ3 OTTHUMG00000131292 ENST00000422110.2:c.64-2317T>C chr3.hg19:g.39144910A>G NA B3KWC8|Q3SYG7|Q8N272|Q96H42 hg19 0.02 6.946232 ATGxAGA COVERED NOVEL GORASP1-004 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000342415.1 1 11.435173 KEEP 0 0 0 38 1211 AA 1 1 0 - 7 60 270 0 0 17.617799 166 60 5929 272 ENST00000422110.2 0.040462 1 GORASP1 64689 __UNKNOWN__ __UNKNOWN__ 3 39149218 39149218 __UNKNOWN__ 5'UTR SNP A A T rs28362645 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:39149218A>T ENST00000319283.3 - 0 636 TTC21A_ENST00000301819.6_5'UTR|TTC21A_ENST00000431162.2_5'UTR NM_031899.2 NP_114105.1 Q9BQQ3 GORS1_HUMAN golgi reassembly stacking protein 1, 65kDa NA NA Golgi organization (GO:0007030)|mitotic cell cycle (GO:0000278)|negative regulation of dendrite morphogenesis (GO:0050774)|protein transport (GO:0015031) Golgi membrane (GO:0000139) central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(1)|ovary(3)|urinary_tract(1) 14 KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653) GTTTCCAAGGACTGTAACGCC 0.652 NA A||| 479 0.095647 0.0492 0.1556 5008 , , NA 12897 0.128 NA 0.1123 False NA ,,, NA NA NA 2504 0.0654 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AJ409349 CCDS2681.1, CCDS63596.1, CCDS63597.1 3p22-p21.33 2008-04-23 2002-08-29 2002-05-24 ENSG00000114745 ENSG00000114745 64689 16769 protein-coding gene gene with protein product 606867 golgi phosphoprotein 5 GOLPH5 NA Standard NM_001278789 NA Approved GRASP65, P65, FLJ23443 uc003ciw.1 Q9BQQ3 OTTHUMG00000131292 ENST00000319283.3:c.-186T>A chr3.hg19:g.39149218A>T NA B3KWC8|Q3SYG7|Q8N272|Q96H42 hg19 CCDS2681.1 0.02 13.50993 AGGxCTG COVERED NOVEL GORASP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254060.1 4 79.696225 KEEP 0 0 0 265 8079 AA 1 1 0 - 15 60 486 0 1 28.865611 340 60 11439 767 ENST00000319283.3 0.042254 1 GORASP1 64689 __UNKNOWN__ __UNKNOWN__ 3 39149503 39149503 __UNKNOWN__ 5'UTR SNP A A G rs28362642 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:39149503A>G ENST00000319283.3 - 0 351 TTC21A_ENST00000301819.6_Intron|TTC21A_ENST00000431162.2_Intron|TTC21A_ENST00000440121.1_Intron NM_031899.2 NP_114105.1 Q9BQQ3 GORS1_HUMAN golgi reassembly stacking protein 1, 65kDa NA NA Golgi organization (GO:0007030)|mitotic cell cycle (GO:0000278)|negative regulation of dendrite morphogenesis (GO:0050774)|protein transport (GO:0015031) Golgi membrane (GO:0000139) central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(1)|ovary(3)|urinary_tract(1) 14 KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653) TCCCCCTGGCAAGGGCGTCTT 0.572 NA A||| 508 0.101438 0.0605 0.1599 5008 , , NA 17966 0.13 NA 0.1183 False NA ,,, NA NA NA 2504 0.0685 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AJ409349 CCDS2681.1, CCDS63596.1, CCDS63597.1 3p22-p21.33 2008-04-23 2002-08-29 2002-05-24 ENSG00000114745 ENSG00000114745 64689 16769 protein-coding gene gene with protein product 606867 golgi phosphoprotein 5 GOLPH5 NA Standard NM_001278789 NA Approved GRASP65, P65, FLJ23443 uc003ciw.1 Q9BQQ3 OTTHUMG00000131292 ENST00000319283.3:c.-471T>C chr3.hg19:g.39149503A>G NA B3KWC8|Q3SYG7|Q8N272|Q96H42 hg19 CCDS2681.1 0.02 4.340002 GGCxAGG COVERED NOVEL GORASP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254060.1 4 18.350068 KEEP 0 0 0 61 1801 AA 1 1 0 - 9 60 323 0 0 22.068734 132 60 4585 223 ENST00000319283.3 0.06383 1 GORASP1 64689 __UNKNOWN__ __UNKNOWN__ 3 39149574 39149574 __UNKNOWN__ 5'UTR SNP C C T rs28362641 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:39149574C>T ENST00000319283.3 - 0 280 TTC21A_ENST00000301819.6_Intron|TTC21A_ENST00000431162.2_Intron|TTC21A_ENST00000440121.1_Intron NM_031899.2 NP_114105.1 Q9BQQ3 GORS1_HUMAN golgi reassembly stacking protein 1, 65kDa NA NA Golgi organization (GO:0007030)|mitotic cell cycle (GO:0000278)|negative regulation of dendrite morphogenesis (GO:0050774)|protein transport (GO:0015031) Golgi membrane (GO:0000139) central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(1)|ovary(3)|urinary_tract(1) 14 KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653) TGAGCTACCCCAAACCAGCTC 0.567 NA C||| 1229 0.245407 0.3222 0.2363 5008 , , NA 19177 0.3036 NA 0.1859 False NA ,,, NA NA NA 2504 0.1493 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AJ409349 CCDS2681.1, CCDS63596.1, CCDS63597.1 3p22-p21.33 2008-04-23 2002-08-29 2002-05-24 ENSG00000114745 ENSG00000114745 64689 16769 protein-coding gene gene with protein product 606867 golgi phosphoprotein 5 GOLPH5 NA Standard NM_001278789 NA Approved GRASP65, P65, FLJ23443 uc003ciw.1 Q9BQQ3 OTTHUMG00000131292 ENST00000319283.3:c.-542G>A chr3.hg19:g.39149574C>T NA B3KWC8|Q3SYG7|Q8N272|Q96H42 hg19 CCDS2681.1 0.02 3.778227 CCCxAAA COVERED NOVEL GORASP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254060.1 2 18.057151 KEEP 0 0 0 60 2091 CC 1 1 0 - 5 60 180 0 0 10.90059 143 60 5186 234 ENST00000319283.3 0.033784 1 TTC21A 199223 __UNKNOWN__ __UNKNOWN__ 3 39171676 39171676 __UNKNOWN__ Intron SNP C C T rs35052325 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:39171676C>T ENST00000431162.2 + 16 2363 TTC21A_ENST00000301819.6_Intron|TTC21A_ENST00000440121.1_Intron Q8NDW8 TT21A_HUMAN tetratricopeptide repeat domain 21A NA NA NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3) 50 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) TGCCAAGTGGCCCCCCAGTCT 0.582 NA C||| 627 0.1252 0.1339 0.1758 5008 , , NA 19358 0.128 NA 0.1203 False NA ,,, NA NA NA 2504 0.0798 NA NA NA NA 0 C , 464,3410 27,410,1500 53 56 55 , 1.8 0 3 dbSNP_126 55 1050,7196 74,902,3147 no intron,intron TTC21A NM_001105513.2,NM_145755.2 , 101,1312,4647 TT,TC,CC 12.7334,11.9773,12.4917 , , 39171676 1514,10606 1937 4123 6060 SO:0001627 intron_variant AJ487015 CCDS43068.1, CCDS46800.1, CCDS43068.2 3p22.2 2014-09-04 ENSG00000168026 ENSG00000168026 199223 Tetratricopeptide (TTC) repeat domain containing 30761 protein-coding gene gene with protein product 611430 NA Standard NM_145755 NM_145755 NA Approved STI2 uc003cjc.2 Q8NDW8 OTTHUMG00000155973 ENST00000431162.2:c.2229+34C>T chr3.hg19:g.39171676C>T NA A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02 hg19 CCDS46800.1 0.02 8.140486 TGGxCCC COVERED NOVEL TTC21A-021 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000377829.1 1 16.852895 KEEP 0 0 0 56 2000 CC 1 1 0 + 9 60 305 0 0 18.183993 233 60 8256 369 ENST00000431162.2 0.03719 1 TTC21A 199223 __UNKNOWN__ __UNKNOWN__ 3 39172642 39172642 __UNKNOWN__ Intron SNP G G A rs12637881 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:39172642G>A ENST00000431162.2 + 19 2717 TTC21A_ENST00000301819.6_Intron|TTC21A_ENST00000440121.1_Intron Q8NDW8 TT21A_HUMAN tetratricopeptide repeat domain 21A NA NA NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3) 50 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) GGGGGCTGAAGGAGGAGGAAG 0.463 NA G||| 614 0.122604 0.1331 0.17 5008 , , NA 21068 0.128 NA 0.1163 False NA ,,, NA NA NA 2504 0.0757 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ487015 CCDS43068.1, CCDS46800.1, CCDS43068.2 3p22.2 2014-09-04 ENSG00000168026 ENSG00000168026 199223 Tetratricopeptide (TTC) repeat domain containing 30761 protein-coding gene gene with protein product 611430 NA Standard NM_145755 NM_145755 NA Approved STI2 uc003cjc.2 Q8NDW8 OTTHUMG00000155973 ENST00000431162.2:c.2583+56G>A chr3.hg19:g.39172642G>A NA A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02 hg19 CCDS46800.1 0.02 4.464845 GAAxGAG COVERED NOVEL TTC21A-021 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000377829.1 2 12.007134 KEEP 0 0 0 40 1358 GG 1 1 0 + 5 60 192 0 0 12.253125 133 60 4922 219 ENST00000431162.2 0.036232 1 CSRNP1 64651 __UNKNOWN__ __UNKNOWN__ 3 39188182 39188182 __UNKNOWN__ 5'UTR SNP C C T rs13084580 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:39188182C>T ENST00000273153.5 - 0 169 CSRNP1_ENST00000514182.1_5'UTR NM_033027.3 NP_149016.2 Q96S65 CSRN1_HUMAN cysteine-serine-rich nuclear protein 1 NA NA apoptotic process (GO:0006915)|face morphogenesis (GO:0060325)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705) nucleus (GO:0005634) RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3) 24 ATGGTGGTGCCGGACGTGCTC 0.582 NA c||| 586 0.117013 0.1286 0.1686 5008 , , NA 19614 0.1181 NA 0.1014 False NA ,,, NA NA NA 2504 0.0798 NA NA NA NA 0 462,3932 22,418,1757 67 31 43 -6 0 3 dbSNP_121 43 977,7589 69,839,3375 no utr-5 CSRNP1 NM_033027.3 91,1257,5132 TT,TC,CC 11.4056,10.5143,11.1034 39188182 1439,11521 2197 4283 6480 SO:0001623 5_prime_UTR_variant AB053121 CCDS2682.1 3p22 2009-04-17 2009-04-17 2009-04-17 ENSG00000144655 ENSG00000144655 64651 14300 protein-coding gene gene with protein product 606458 AXIN1 up-regulated 1 AXUD1 NA 11526492, 17726538 Standard NM_033027 NM_033027 NA Approved URAX1, DKFZp566F164, FAM130B, TAIP-3 uc003cjg.3 Q96S65 OTTHUMG00000131293 ENST00000273153.5:c.-9G>A chr3.hg19:g.39188182C>T NA Q69YY5 hg19 CCDS2682.1 0.02 5.859471 TGCxGGA COVERED 260 0.11904761904761904 59 0.11991869918699187 63 0.17403314917127072 64 0.11188811188811189 74 0.09762532981530343 c 9.238 1.037497 0.19669 0.105143 0.114056 ENSG00000144655 ENST00000318290 . . . 2.99 -5.98 0.02220 . . . . . T 0.00109 0.0003 . . . 0.58432 P 9.99999999995449E-6 . . . . . . T 0.21075 -1.0256 4 0.62326 D 0.03 . 4.9052 0.13795 0.1536:0.6134:0.1169:0.1161 rs13084580;rs52811898;rs60874130;rs13084580 . . . Q 58 . ENSP00000316882:R58Q R - 2 0 CSRNP1 39163186 0.000000 0.05858 0.000000 0.03702 0.679000 0.39708 -0.162000 0.10012 -1.516000 0.01782 -0.715000 0.03620 CGG NOVEL CSRNP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254061.1 3 29.18291 KEEP 0 0 0 97 3220 CC 1 1 0 - 7 60 247 0 0 15.151718 176 60 6042 361 ENST00000273153.5 0.038251 1 XIRP1 165904 __UNKNOWN__ __UNKNOWN__ 3 39225752 39225752 __UNKNOWN__ Missense_Mutation SNP C C G rs61736128 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:39225752C>G ENST00000340369.3 - 2 5413 c.5185G>C c.(5185-5187)Gtg>Ctg p.V1729L XIRP1_ENST00000421646.1_Missense_Mutation_p.V412L|XIRP1_ENST00000396251.1_3'UTR NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 1729 Interaction with FLNC. NA cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214) fascia adherens (GO:0005916) poly(A) RNA binding (GO:0044822) breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) TCAGGTTGCACAGAGCACTGG 0.572 NA C||| 516 0.103035 0.2776 0.121 5008 , , NA 18782 0.0546 NA 0.0 False NA ,,, NA NA NA 2504 0.0102 NA NA NA NA 0 C ,LEU/VAL 1115,3291 401.0+/-331.8 152,811,1240 99 86 90 ,5185 1.4 0 3 dbSNP_129 90 21,8579 13.3+/-46.6 0,21,4279 yes utr-3,missense XIRP1 NM_001198621.1,NM_194293.2 ,32 152,832,5519 GG,GC,CC 0.2442,25.3064,8.7344 ,benign ,1729/1844 39225752 1136,11870 2203 4300 6503 SO:0001583 missense AW755250 CCDS2683.1, CCDS56245.1 3p21.33 2008-02-05 2007-06-27 2007-06-27 ENSG00000168334 ENSG00000168334 165904 14301 protein-coding gene gene with protein product 609777 cardiomyopathy associated 1 CMYA1 NA 12203715, 15454575 Standard XM_093522 NM_001198621 NA Approved DKFZp451D042, Xin uc003cjk.2 Q702N8 OTTHUMG00000131297 ENST00000340369.3:c.5185G>C chr3.hg19:g.39225752C>G ENSP00000343140:p.Val1729Leu NA A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7 hg19 CCDS2683.1 0.02 17.510737 GCAxAGA COVERED 194 0.08882783882783883 134 0.27235772357723576 38 0.10497237569060773 22 0.038461538461538464 0 0.0 C 3.023 -0.201238 0.06219 0.253064 0.002442 ENSG00000168334 ENST00000340369;ENST00000421646 T;T 0.17528 3.96;2.27 4.19 1.37 0.22104 . 1816.370000 0.00166 U 0.000003 T 0.00012 0.0000 N 0.14661 0.345 0.80722 P 0.0 B 0.12013 0.005 B 0.08055 0.003 T 0.39522 -0.9610 9 0.27785 T 0.31 . 3.309 0.07010 0.206:0.5747:0.0:0.2193 rs61736128 1729 Q702N8 XIRP1_HUMAN L 1729;412 ENSP00000343140:V1729L;ENSP00000391645:V412L ENSP00000343140:V1729L V - 1 0 XIRP1 39200756 0.000000 0.05858 0.000000 0.03702 0.005000 0.04900 -0.112000 0.10791 0.523000 0.28482 -0.140000 0.14226 GTG NOVEL XIRP1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000254065.1 2 25.580686 KEEP 0 0 0 85 2961 CC 1 1 0 - 23 60 874 0 0 61.106089 342 60 12513 531 ENST00000340369.3 0.063014 1 XIRP1 165904 __UNKNOWN__ __UNKNOWN__ 3 39226436 39226436 __UNKNOWN__ Missense_Mutation SNP C C T rs58805228 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:39226436C>T ENST00000340369.3 - 2 4729 c.4501G>A c.(4501-4503)Gtg>Atg p.V1501M XIRP1_ENST00000421646.1_Missense_Mutation_p.V184M|XIRP1_ENST00000396251.1_3'UTR NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 1501 NA cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214) fascia adherens (GO:0005916) poly(A) RNA binding (GO:0044822) breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) AGCTGGGGCACGGCCTCAAAG 0.667 NA c||| 516 0.103035 0.2776 0.121 5008 , , NA 19286 0.0546 NA 0.0 False NA ,,, NA NA NA 2504 0.0102 NA NA NA NA 0 T ,MET/VAL 1021,3213 122,777,1218 31 36 34 ,4501 2.2 0.6 3 dbSNP_129 34 18,8510 0,18,4246 yes utr-3,missense XIRP1 NM_001198621.1,NM_194293.2 ,21 122,795,5464 TT,TC,CC 0.2111,24.1143,8.1414 ,probably-damaging ,1501/1844 39226436 1039,11723 2117 4264 6381 SO:0001583 missense AW755250 CCDS2683.1, CCDS56245.1 3p21.33 2008-02-05 2007-06-27 2007-06-27 ENSG00000168334 ENSG00000168334 165904 14301 protein-coding gene gene with protein product 609777 cardiomyopathy associated 1 CMYA1 NA 12203715, 15454575 Standard XM_093522 NM_001198621 NA Approved DKFZp451D042, Xin uc003cjk.2 Q702N8 OTTHUMG00000131297 ENST00000340369.3:c.4501G>A chr3.hg19:g.39226436C>T ENSP00000343140:p.Val1501Met NA A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7 hg19 CCDS2683.1 0.02 13.406259 GCAxGGC COVERED 194 0.08882783882783883 134 0.27235772357723576 38 0.10497237569060773 22 0.038461538461538464 0 0.0 c 12.03 1.815454 0.32145 0.241143 0.002111 ENSG00000168334 ENST00000340369;ENST00000421646 T;T 0.24350 3.5;1.86 4.04 2.21 0.28008 . 0.682987 0.12313 U 0.480033 T 0.00012 0.0000 M 0.69823 2.125 0.39163 P 0.03755799999999998 P 0.42556 0.783 B 0.29440 0.102 T 0.28396 -1.0045 9 0.66056 D 0.02 . 7.8405 0.29395 0.0:0.7863:0.0:0.2137 rs58805228;rs61742553 1501 Q702N8 XIRP1_HUMAN M 1501;184 ENSP00000343140:V1501M;ENSP00000391645:V184M ENSP00000343140:V1501M V - 1 0 XIRP1 39201440 0.989000 0.36119 0.573000 0.28510 0.050000 0.14768 2.692000 0.47018 1.021000 0.39600 -0.119000 0.15052 GTG NOVEL XIRP1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000254065.1 2 21.451107 KEEP 0 1 30 82 2709 CC 1 1 0 - 19 60 703 0 0 48.032355 303 60 10111 464 ENST00000340369.3 0.059006 1 XIRP1 165904 __UNKNOWN__ __UNKNOWN__ 3 39226610 39226610 __UNKNOWN__ Missense_Mutation SNP C C T rs75731397 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:39226610C>T ENST00000340369.3 - 2 4555 c.4327G>A c.(4327-4329)Ggc>Agc p.G1443S XIRP1_ENST00000421646.1_Missense_Mutation_p.G126S|XIRP1_ENST00000396251.1_3'UTR NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 1443 NA cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214) fascia adherens (GO:0005916) poly(A) RNA binding (GO:0044822) breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) CCTGAGGGGCCGGGGCCCCAC 0.617 NA C||| 206 0.0411342 0.0575 0.0937 5008 , , NA 17533 0.0546 NA 0.0 False NA ,,, NA NA NA 2504 0.0102 NA NA NA NA 0 C ,SER/GLY 268,4138 145.4+/-180.2 9,250,1944 52 63 59 ,4327 -7.5 0 3 dbSNP_131 59 9,8591 6.4+/-24.3 0,9,4291 no utr-3,missense XIRP1 NM_001198621.1,NM_194293.2 ,56 9,259,6235 TT,TC,CC 0.1047,6.0826,2.1298 ,benign ,1443/1844 39226610 277,12729 2203 4300 6503 SO:0001583 missense AW755250 CCDS2683.1, CCDS56245.1 3p21.33 2008-02-05 2007-06-27 2007-06-27 ENSG00000168334 ENSG00000168334 165904 14301 protein-coding gene gene with protein product 609777 cardiomyopathy associated 1 CMYA1 NA 12203715, 15454575 Standard XM_093522 NM_001198621 NA Approved DKFZp451D042, Xin uc003cjk.2 Q702N8 OTTHUMG00000131297 ENST00000340369.3:c.4327G>A chr3.hg19:g.39226610C>T ENSP00000343140:p.Gly1443Ser NA A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7 hg19 CCDS2683.1 0.02 9.23527 GGCxGGG COVERED 70 0.03205128205128205 20 0.04065040650406504 28 0.07734806629834254 22 0.038461538461538464 0 0.0 C 0.851 -0.738537 0.03111 0.060826 0.001047 ENSG00000168334 ENST00000340369;ENST00000421646 T;T 0.14640 4.13;2.49 4.42 -7.54 0.01332 . 2.768730 0.01228 N 0.008296 T 0.00144 0.0004 N 0.00114 -2.085 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.36672 -0.9738 9 0.02654 T 1 . 1.3871 0.02243 0.1224:0.2631:0.2489:0.3656 . 1443 Q702N8 XIRP1_HUMAN S 1443;126 ENSP00000343140:G1443S;ENSP00000391645:G126S ENSP00000343140:G1443S G - 1 0 XIRP1 39201614 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -1.065000 0.03458 -1.054000 0.03214 -1.881000 0.00545 GGC NOVEL XIRP1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000254065.1 3 17.454203 KEEP 0 0 0 58 1932 CC 1 1 0 - 13 60 476 0 0 32.115057 217 60 7559 353 ENST00000340369.3 0.056522 1 MYRIP 25924 __UNKNOWN__ __UNKNOWN__ 3 40231475 40231475 __UNKNOWN__ Missense_Mutation SNP G G A rs374697001 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:40231475G>A ENST00000302541.6 + 10 1528 c.1186G>A c.(1186-1188)Gat>Aat p.D396N MYRIP_ENST00000539167.1_Missense_Mutation_p.D209N|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000444716.1_Missense_Mutation_p.D396N|MYRIP_ENST00000425621.1_Missense_Mutation_p.D396N|MYRIP_ENST00000396217.3_Missense_Mutation_p.D307N NM_001284423.1|NM_001284426.1|NM_015460.2 NP_001271352.1|NP_001271355.1|NP_056275.2 Q8NFW9 MYRIP_HUMAN myosin VIIA and Rab interacting protein 396 Myosin-binding. NA intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024) actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202) zinc ion binding (GO:0008270) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206) GATGGGCTCCGATAGCGAGGA 0.637 NA NA NA NA NA NA NA NA NA NA NA 0 G ASN/ASP 0,4406 0,0,2203 95 84 87 1186 5.9 1 3 87 1,8599 1.2+/-3.3 0,1,4299 no missense MYRIP NM_015460.2 23 0,1,6502 AA,AG,GG 0.0116,0.0,0.0077 probably-damaging 396/860 40231475 1,13005 2203 4300 6503 SO:0001583 missense AF396687 CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1 3p21.33 2010-08-20 ENSG00000170011 ENSG00000170011 25924 A-kinase anchor proteins 19156 protein-coding gene gene with protein product synaptotagmin-like protein homologue lacking C2 domains-c, rab effector MYRIP, Slp homologue lacking C2 domains 611790 NA 11964381, 12221080 Standard NM_015460 NM_001284425 NA Approved DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C uc003cka.3 Q8NFW9 OTTHUMG00000131392 ENST00000302541.6:c.1186G>A chr3.hg19:g.40231475G>A ENSP00000301972:p.Asp396Asn NA B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4 hg19 CCDS2689.1 0.02 13.675247 TCCxATA COVERED . . . . . . . . . . G 33 5.265678 0.95399 0.0 1.16E-4 ENSG00000170011 ENST00000444716;ENST00000302541;ENST00000425621;ENST00000396217;ENST00000539167 T;T;T;T;T 0.25912 1.77;1.77;1.77;1.77;1.77 5.94 5.94 0.96194 Myelin-associated oligodendrocytic basic protein (MOBP) (1); 0.157679 0.53938 D 0.000041 T 0.47377 0.1442 L 0.55990 1.75 0.49798 D 0.999821 D;D;D 0.89917 1.0;0.997;0.998 D;P;P 0.72982 0.979;0.811;0.881 T 0.12293 -1.0553 9 . . . . 17.8439 0.88724 0.0:0.0:1.0:0.0 . 307;396;396 Q32M42;G3XAI8;Q8NFW9 .;.;MYRIP_HUMAN N 396;396;396;307;209 ENSP00000398665:D396N;ENSP00000301972:D396N;ENSP00000389323:D396N;ENSP00000379519:D307N;ENSP00000438297:D209N . D + 1 0 MYRIP 40206479 1.000000 0.71417 0.995000 0.50966 0.848000 0.48234 7.154000 0.77437 2.821000 0.97095 0.655000 0.94253 GAT NOVEL MYRIP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254181.2 3 15.949434 KEEP 0 0 0 53 1791 GG 1 1 0 + 16 60 599 0 0 39.845058 309 60 10915 479 ENST00000302541.6 0.049231 1 EIF1B 10289 __UNKNOWN__ __UNKNOWN__ 3 40351484 40351484 __UNKNOWN__ Intron SNP C C T rs11709089 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:40351484C>T ENST00000232905.3 + 1 289 NM_005875.2 NP_005866.1 O60739 EIF1B_HUMAN eukaryotic translation initiation factor 1B NA NA regulation of translational initiation (GO:0006446) poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743) central_nervous_system(1)|lung(3) 4 KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064) GTCGCCGCCGCCTCCCTCCCT 0.652 NA C||| 1912 0.381789 0.2201 0.33 5008 , , NA 12596 0.6042 NA 0.3131 False NA ,,, NA NA NA 2504 0.4785 NA NA NA NA 0 C 1184,3222 415.0+/-337.0 162,860,1181 81 84 83 1 0 3 dbSNP_120 83 2788,5812 442.2+/-360.0 476,1836,1988 no intron EIF1B NM_005875.2 638,2696,3169 TT,TC,CC 32.4186,26.8724,30.5398 40351484 3972,9034 2203 4300 6503 SO:0001627 intron_variant BC006996 CCDS2690.1 3p22.1 2006-02-03 ENSG00000114784 ENSG00000114784 10289 30792 protein-coding gene gene with protein product NA 7904817 Standard NM_005875 NM_005875 NA Approved GC20 uc003ckc.3 O60739 OTTHUMG00000131388 ENST00000232905.3:c.31+21C>T chr3.hg19:g.40351484C>T NA Q9UQF8 hg19 CCDS2690.1 0.02 16.634823 CCGxCTC COVERED NOVEL EIF1B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254177.1 6 87.686145 KEEP 0 6 152 345 12522 CC 1 1 0 + 26 60 899 0 0 60.344284 381 60 14284 1060 ENST00000232905.3 0.063882 1 EIF1B 10289 __UNKNOWN__ __UNKNOWN__ 3 40353889 40353889 __UNKNOWN__ 3'UTR SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:40353889G>A ENST00000232905.3 + 0 984 NM_005875.2 NP_005866.1 O60739 EIF1B_HUMAN eukaryotic translation initiation factor 1B NA NA regulation of translational initiation (GO:0006446) poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743) central_nervous_system(1)|lung(3) 4 KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064) ATCTAAGCAAGTAAAATACAC 0.333 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC006996 CCDS2690.1 3p22.1 2006-02-03 ENSG00000114784 ENSG00000114784 10289 30792 protein-coding gene gene with protein product NA 7904817 Standard NM_005875 NM_005875 NA Approved GC20 uc003ckc.3 O60739 OTTHUMG00000131388 ENST00000232905.3:c.*384G>A chr3.hg19:g.40353889G>A NA Q9UQF8 hg19 CCDS2690.1 0.02 2.062762 CAAxTAA COVERED NOVEL EIF1B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254177.1 0 11.135793 KEEP 0 0 0 37 1309 GG 1 0.999907 0 + 4 60 155 0 0 10.24521 89 70 3365 164 ENST00000232905.3 0.043011 0.999907 ENTPD3 956 __UNKNOWN__ __UNKNOWN__ 3 40435890 40435890 __UNKNOWN__ Intron SNP A A G rs72861689 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:40435890A>G ENST00000445129.1 + 2 229 ENTPD3_ENST00000456402.1_Intron|ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3_ENST00000301825.3_Intron|ENTPD3-AS1_ENST00000425156.1_RNA|ENTPD3-AS1_ENST00000452768.1_RNA O75355 ENTP3_HUMAN ectonucleoside triphosphate diphosphohydrolase 3 NA NA nucleoside diphosphate catabolic process (GO:0009134)|nucleoside triphosphate catabolic process (GO:0009143) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111) endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758) tgggattataagcatgagcca 0.473 NA G||| 1969 0.393171 0.4168 0.3228 5008 , , NA 16067 0.5218 NA 0.2982 False NA ,,, NA NA NA 2504 0.3763 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF039917 CCDS2691.1, CCDS74919.1 3p21.3 2004-02-26 ENSG00000168032 ENSG00000168032 956 3365 protein-coding gene gene with protein product 603161 CD39L3 NA 9676430 Standard NM_001248 XM_005265605 NA Approved NTPDase-3, HB6 uc003ckd.4 O75355 OTTHUMG00000131390 ENST00000445129.1:c.168+2249A>G chr3.hg19:g.40435890A>G NA B2R8D0|G5E9N0|O60495|Q8N6K2 hg19 0.02 4.643433 ATAxGCA COVERED 827 0.37866300366300365 202 0.4105691056910569 126 0.34806629834254144 274 0.479020979020979 225 0.29683377308707126 G 0.004 -2.297267 0.00243 . . ENSG00000168032 ENST00000439533 T 0.06849 3.25 0.426 0.426 0.16479 . . . . . T 0.00012 0.0000 . . . 0.80722 P 0.0 . . . . . . T 0.43621 -0.9380 4 0.02654 T 1 . . . . . . . . G 87 ENSP00000406555:S87G ENSP00000406555:S87G S + 1 0 ENTPD3 40410894 0.001000 0.12720 0.000000 0.03702 0.008000 0.06430 -0.268000 0.08607 -0.424000 0.07382 -1.063000 0.02288 AGC NOVEL ENTPD3-003 NOVEL alternative_5_UTR|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000343098.1 5 4.749714 KEEP 0 1 38 29 916 AA 0.999997 0.999997 0 + 10 60 346 0 0 24.207837 118 60 4211 180 ENST00000445129.1 0.078125 1 ENTPD3 956 __UNKNOWN__ __UNKNOWN__ 3 40468896 40468896 __UNKNOWN__ Missense_Mutation SNP C C T rs1047855 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:40468896C>T ENST00000301825.3 + 11 1605 c.1487C>T c.(1486-1488)gCg>gTg p.A496V ENTPD3_ENST00000456402.1_Missense_Mutation_p.A496V|ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3-AS1_ENST00000425156.1_RNA|ENTPD3-AS1_ENST00000452768.1_RNA NM_001248.2 NP_001239.2 O75355 ENTP3_HUMAN ectonucleoside triphosphate diphosphohydrolase 3 496 NA A -> V (in dbSNP:rs1047855). {ECO:0000269|PubMed:9676430}. nucleoside diphosphate catabolic process (GO:0009134)|nucleoside triphosphate catabolic process (GO:0009143) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111) endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758) TTCTTCACAGCGGCAGCCTTG 0.537 NA C||| 1392 0.277955 0.0378 0.2867 5008 , , NA 21086 0.4881 NA 0.2883 False NA ,,, NA NA NA 2504 0.3691 NA NA NA NA 0 C VAL/ALA 376,4030 191.9+/-217.4 23,330,1850 118 102 107 1487 -1.6 0 3 dbSNP_86 107 2551,6049 416.3+/-352.1 397,1757,2146 yes missense ENTPD3 NM_001248.2 64 420,2087,3996 TT,TC,CC 29.6628,8.5338,22.505 benign 496/530 40468896 2927,10079 2203 4300 6503 SO:0001583 missense AF039917 CCDS2691.1, CCDS74919.1 3p21.3 2004-02-26 ENSG00000168032 ENSG00000168032 956 3365 protein-coding gene gene with protein product 603161 CD39L3 NA 9676430 Standard NM_001248 XM_005265605 NA Approved NTPDase-3, HB6 uc003ckd.4 O75355 OTTHUMG00000131390 ENST00000301825.3:c.1487C>T chr3.hg19:g.40468896C>T ENSP00000301825:p.Ala496Val NA B2R8D0|G5E9N0|O60495|Q8N6K2 hg19 CCDS2691.1 0.02 19.865146 CAGxGGC COVERED 622 0.2847985347985348 30 0.06097560975609756 117 0.32320441988950277 255 0.4458041958041958 220 0.29023746701846964 C 3.599 -0.081966 0.07141 0.085338 0.296628 ENSG00000168032 ENST00000301825;ENST00000456402 T;T 0.09817 2.94;2.94 5.18 -1.64 0.08318 . 0.634926 0.15141 N 0.278298 T 0.00012 0.0000 N 0.08118 0 0.58432 P 1.999999999946489E-6 B 0.11235 0.004 B 0.06405 0.002 T 0.43877 -0.9364 9 0.16896 T 0.51 -0.097 5.6082 0.17391 0.0:0.403:0.266:0.331 rs1047855;rs3733166;rs52835170;rs58911447;rs1047855 496 O75355 ENTP3_HUMAN V 496 ENSP00000301825:A496V;ENSP00000401565:A496V ENSP00000301825:A496V A + 2 0 ENTPD3 40443900 0.014000 0.17966 0.000000 0.03702 0.167000 0.22549 0.238000 0.18004 -0.395000 0.07715 -0.140000 0.14226 GCG NOVEL ENTPD3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254179.2 5 6.057048 KEEP 0 4 128 65 2193 CC 1 1 0 + 26 60 906 0 0 59.706444 433 60 15512 621 ENST00000301825.3 0.056645 1 ENTPD3 956 __UNKNOWN__ __UNKNOWN__ 3 40469254 40469254 __UNKNOWN__ 3'UTR SNP G G T rs6773917 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:40469254G>T ENST00000301825.3 + 0 1963 ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3-AS1_ENST00000425156.1_RNA|ENTPD3-AS1_ENST00000452768.1_RNA NM_001248.2 NP_001239.2 O75355 ENTP3_HUMAN ectonucleoside triphosphate diphosphohydrolase 3 NA NA nucleoside diphosphate catabolic process (GO:0009134)|nucleoside triphosphate catabolic process (GO:0009143) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111) endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758) GACAGGCCACGAAGGTCAGGC 0.448 NA T||| 2391 0.477436 0.6059 0.3516 5008 , , NA 18822 0.5556 NA 0.3111 False NA ,,, NA NA NA 2504 0.4836 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF039917 CCDS2691.1, CCDS74919.1 3p21.3 2004-02-26 ENSG00000168032 ENSG00000168032 956 3365 protein-coding gene gene with protein product 603161 CD39L3 NA 9676430 Standard NM_001248 XM_005265605 NA Approved NTPDase-3, HB6 uc003ckd.4 O75355 OTTHUMG00000131390 ENST00000301825.3:c.*255G>T chr3.hg19:g.40469254G>T NA B2R8D0|G5E9N0|O60495|Q8N6K2 hg19 CCDS2691.1 0.02 7.418242 CACxAAG COVERED NOVEL ENTPD3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254179.2 3 2.877148 KEEP 0 2 61 31 1045 GG 0.999998 0.999998 0 + 18 60 677 0 0 51.066134 158 60 5574 244 ENST00000301825.3 0.102273 1 ZNF619 285267 __UNKNOWN__ __UNKNOWN__ 3 40519532 40519532 __UNKNOWN__ Intron SNP C C A rs4128740 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:40519532C>A ENST00000521353.1 + 1 24 ZNF619_ENST00000520737.1_Intron|ZNF619_ENST00000456778.1_Intron|ZNF619_ENST00000429348.2_Intron|ZNF619_ENST00000432264.2_Intron|ZNF619_ENST00000522736.1_Intron|ZNF619_ENST00000447116.2_Intron|ZNF619_ENST00000314686.5_Intron Q8N2I2 ZN619_HUMAN zinc finger protein 619 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) ATACTCAGAACAGATATGGAA 0.483 NA C||| 1447 0.288938 0.0825 0.2925 5008 , , NA 21624 0.4812 NA 0.2883 False NA ,,, NA NA NA 2504 0.3681 NA NA NA NA 0 C ,, 176,1208 13,150,529 102 88 92 ,, -0.8 0 3 dbSNP_108 92 932,2250 145,642,804 no intron,intron,intron ZNF619 NM_001145082.2,NM_001145083.1,NM_001145093.2 ,, 158,792,1333 AA,AC,CC 29.2898,12.7168,24.2663 ,, ,, 40519532 1108,3458 692 1591 2283 SO:0001627 intron_variant AK075245 CCDS46801.1, CCDS46802.1, CCDS46803.1 3p21.33 2013-01-08 ENSG00000177873 ENSG00000177873 285267 Zinc fingers, C2H2-type, - 26910 protein-coding gene gene with protein product NA Standard NM_173656 NM_001145083 NA Approved FLJ90764 uc011azb.2 Q8N2I2 OTTHUMG00000131391 ENST00000521353.1:c.24+38C>A chr3.hg19:g.40519532C>A NA B4E271|C9JRN5|D4PHA2|E9PCD9 hg19 CCDS46802.1 0.02 4.088802 GAAxAGA COVERED NOVEL ZNF619-010 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000377401.3 0 15.349923 KEEP 0 0 0 51 1816 CC 1 0.999999 0 + 9 60 326 0 0 22.884479 115 60 4398 219 ENST00000521353.1 0.072581 0.999999 CTNNB1 1499 __UNKNOWN__ __UNKNOWN__ 3 41279440 41279440 __UNKNOWN__ Intron SNP A A G rs4135385 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:41279440A>G ENST00000349496.5 + 14 2356 CTNNB1_ENST00000396185.3_Intron|CTNNB1_ENST00000453024.1_Intron|CTNNB1_ENST00000405570.1_Intron|CTNNB1_ENST00000396183.3_Intron NM_001904.3 NP_001895.1 P35222 CTNB1_HUMAN catenin (cadherin-associated protein), beta 1, 88kDa NA NA adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055) adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915) alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212) CTNNB1/PLAG1(60) NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8) 3893 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) TTTAAAAAAAATTAGTGTACT 0.338 15 H, Mis, T PLAG1 colorectal, cvarian, hepatoblastoma, others, pleomorphic salivary adenoma Pilomatrixoma, Familial Clustering of A||| 1166 0.232827 0.0113 0.2795 5008 , , NA 17282 0.5308 NA 0.2366 False NA ,,, NA NA NA 2504 0.1881 NA NA NA Colon(6;3 56 14213 18255) Dom yes 3 3p22-p21.3 1499 catenin (cadherin-associated protein), beta 1 E, M, O 0 A ,, 71,1313 2,67,623 162 129 139 ,, -4.3 0 3 dbSNP_108 139 702,2480 79,544,968 no intron,intron,intron CTNNB1 NM_001098209.1,NM_001098210.1,NM_001904.3 ,, 81,611,1591 GG,GA,AA 22.0616,5.1301,16.9295 ,, ,, 41279440 773,3793 692 1591 2283 SO:0001627 intron_variant Familial Cancer Database Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe X87838 CCDS2694.1 3p21 2013-02-15 2002-08-29 ENSG00000168036 ENSG00000168036 1499 Armadillo repeat containing 2514 protein-coding gene gene with protein product 116806 catenin (cadherin-associated protein), beta 1 (88kD) CTNNB NA 7829088 Standard NM_001098210 NM_001098210 NA Approved beta-catenin, armadillo uc003ckr.2 P35222 OTTHUMG00000131393 ENST00000349496.5:c.2077-67A>G chr3.hg19:g.41279440A>G NA A8K1L7|Q8NEW9|Q8NI94|Q9H391 hg19 CCDS2694.1 0.02 4.661861 AAAxTTA COVERED NOVEL CTNNB1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254182.2 2 6.319668 KEEP 0 0 0 21 681 AA 0.999869 0.999869 0 + 5 60 188 0 0 12.039779 122 60 4312 159 ENST00000349496.5 0.03937 1 ULK4 54986 __UNKNOWN__ __UNKNOWN__ 3 41756965 41756965 __UNKNOWN__ Missense_Mutation SNP C C T rs61744388 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:41756965C>T ENST00000301831.4 - 24 3013 c.2551G>A c.(2551-2553)Gta>Ata p.V851I NM_017886.2 NP_060356.2 Q96C45 ULK4_HUMAN unc-51 like kinase 4 851 NA cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674) breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1) 22 KIRC - Kidney renal clear cell carcinoma(284;0.214) TGAAGCACTACAGGCATCAGG 0.428 NA T||| 1330 0.265575 0.5348 0.1628 5008 , , NA 17563 0.1478 NA 0.1839 False NA ,,, NA NA NA 2504 0.18 NA NA NA NA 0 T ILE/VAL 1816,2052 436,944,554 103 104 104 2551 -10.1 0 3 dbSNP_129 104 1420,6868 128,1164,2852 yes missense ULK4 NM_017886.2 29 564,2108,3406 TT,TC,CC 17.1332,46.9493,26.6206 benign 851/1276 41756965 3236,8920 1934 4144 6078 SO:0001583 missense AK000581 CCDS43071.1 3p22.1 2013-07-02 2013-07-02 ENSG00000168038 ENSG00000168038 54986 15784 protein-coding gene gene with protein product unc-51-like kinase 4 (C. elegans) NA 12477932 Standard XM_929989 NM_017886 NA Approved FLJ20574, REC01035, FAM7C1 uc003ckv.4 Q96C45 OTTHUMG00000156210 ENST00000301831.4:c.2551G>A chr3.hg19:g.41756965C>T ENSP00000301831:p.Val851Ile NA A6NF15|Q8IW79|Q9NWV6|Q9UF96 hg19 CCDS43071.1 0.02 4.457653 CTAxAGG COVERED 550 0.2518315018315018 262 0.532520325203252 57 0.1574585635359116 86 0.15034965034965034 145 0.19129287598944592 T 8.060 0.767962 0.15983 0.469493 0.171332 ENSG00000168038 ENST00000301831 T 0.62941 -0.01 5.72 -10.1 0.00402 Armadillo-type fold (1); 0.423778 0.22435 N 0.060092 T 0.00012 0.0000 N 0.24115 0.695 0.49915 P 1.6599999999999948E-4 B 0.09022 0.002 B 0.10450 0.005 T 0.36768 -0.9734 9 0.25106 T 0.35 . 25.2475 0.99993 0.0:0.8218:0.0:0.1782 . 851 Q96C45 ULK4_HUMAN I 851 ENSP00000301831:V851I ENSP00000301831:V851I V - 1 0 ULK4 41731969 0.000000 0.05858 0.000000 0.03702 0.404000 0.30871 -0.947000 0.03901 -2.451000 0.00543 -1.977000 0.00459 GTA NOVEL ULK4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000343490.1 0 8.427186 KEEP 0 0 0 28 988 CC 0.999997 0.999994 0 - 9 60 324 0 0 22.953663 107 60 4030 173 ENST00000301831.4 0.077586 0.999997 ULK4 54986 __UNKNOWN__ __UNKNOWN__ 3 41756986 41756986 __UNKNOWN__ Missense_Mutation SNP A A T rs61744385 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:41756986A>T ENST00000301831.4 - 24 2992 c.2530T>A c.(2530-2532)Ttg>Atg p.L844M NM_017886.2 NP_060356.2 Q96C45 ULK4_HUMAN unc-51 like kinase 4 844 NA cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674) breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1) 22 KIRC - Kidney renal clear cell carcinoma(284;0.214) GGGAGACACAACTTCAGCTGT 0.433 NA T||| 1330 0.265575 0.5348 0.1628 5008 , , NA 17195 0.1478 NA 0.1839 False NA ,,, NA NA NA 2504 0.18 NA NA NA NA 0 T MET/LEU 1828,2100 435,958,571 104 106 105 2530 -1.8 0.1 3 dbSNP_129 105 1425,6891 128,1169,2861 yes missense ULK4 NM_017886.2 15 563,2127,3432 TT,TA,AA 17.1356,46.5377,26.5681 benign 844/1276 41756986 3253,8991 1964 4158 6122 SO:0001583 missense AK000581 CCDS43071.1 3p22.1 2013-07-02 2013-07-02 ENSG00000168038 ENSG00000168038 54986 15784 protein-coding gene gene with protein product unc-51-like kinase 4 (C. elegans) NA 12477932 Standard XM_929989 NM_017886 NA Approved FLJ20574, REC01035, FAM7C1 uc003ckv.4 Q96C45 OTTHUMG00000156210 ENST00000301831.4:c.2530T>A chr3.hg19:g.41756986A>T ENSP00000301831:p.Leu844Met NA A6NF15|Q8IW79|Q9NWV6|Q9UF96 hg19 CCDS43071.1 0.02 4.287883 ACAxCTT COVERED 550 0.2518315018315018 262 0.532520325203252 57 0.1574585635359116 86 0.15034965034965034 145 0.19129287598944592 T 2.271 -0.366965 0.05069 0.465377 0.171356 ENSG00000168038 ENST00000301831 T 0.52526 0.66 5.72 -1.82 0.07857 Armadillo-type fold (1); 0.393302 0.27513 N 0.019027 T 0.00012 0.0000 N 0.01109 -1.01 0.36343 P 0.14037200000000005 B 0.06786 0.001 B 0.08055 0.003 T 0.41645 -0.9497 9 0.16896 T 0.51 . 4.4795 0.11760 0.2034:0.0585:0.4211:0.317 rs61744385 844 Q96C45 ULK4_HUMAN M 844 ENSP00000301831:L844M ENSP00000301831:L844M L - 1 2 ULK4 41731990 0.258000 0.24033 0.069000 0.20011 0.931000 0.56810 0.121000 0.15667 -0.930000 0.03752 -1.147000 0.01851 TTG NOVEL ULK4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000343490.1 0 7.523337 KEEP 0 0 0 25 812 AA 0.999931 0.99993 0 - 9 60 333 0 0 23.582074 115 60 4075 187 ENST00000301831.4 0.072581 0.999999 ULK4 54986 __UNKNOWN__ __UNKNOWN__ 3 41759191 41759191 __UNKNOWN__ Intron SNP T T C rs17060938 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:41759191T>C ENST00000301831.4 - 23 2918 NM_017886.2 NP_060356.2 Q96C45 ULK4_HUMAN unc-51 like kinase 4 NA NA cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674) breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1) 22 KIRC - Kidney renal clear cell carcinoma(284;0.214) AAAGCAGAAATGGGGCCTGAG 0.423 NA C||| 1595 0.31849 0.7254 0.1758 5008 , , NA 19246 0.1478 NA 0.1879 False NA ,,, NA NA NA 2504 0.18 NA NA NA NA 0 C 2467,1445 793,881,282 81 83 82 -7.7 0 3 dbSNP_123 82 1444,6846 130,1184,2831 no intron ULK4 NM_017886.2 923,2065,3113 CC,CT,TT 17.4186,36.9376,32.0521 41759191 3911,8291 1956 4145 6101 SO:0001627 intron_variant AK000581 CCDS43071.1 3p22.1 2013-07-02 2013-07-02 ENSG00000168038 ENSG00000168038 54986 15784 protein-coding gene gene with protein product unc-51-like kinase 4 (C. elegans) NA 12477932 Standard XM_929989 NM_017886 NA Approved FLJ20574, REC01035, FAM7C1 uc003ckv.4 Q96C45 OTTHUMG00000156210 ENST00000301831.4:c.2455+28A>G chr3.hg19:g.41759191T>C NA A6NF15|Q8IW79|Q9NWV6|Q9UF96 hg19 CCDS43071.1 0.02 8.222832 AAAxGGG COVERED NOVEL ULK4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000343490.1 0 14.743944 KEEP 0 0 0 49 1534 TT 1 1 0 - 11 60 403 0 0 26.588596 209 60 7680 341 ENST00000301831.4 0.05 1 ULK4 54986 __UNKNOWN__ __UNKNOWN__ 3 41795841 41795841 __UNKNOWN__ Intron SNP A A C rs9867627 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:41795841A>C ENST00000301831.4 - 22 2784 NM_017886.2 NP_060356.2 Q96C45 ULK4_HUMAN unc-51 like kinase 4 NA NA cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674) breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1) 22 KIRC - Kidney renal clear cell carcinoma(284;0.214) AAACCATCAGAGAAAATCTTA 0.358 NA A||| 1085 0.216653 0.3585 0.1484 5008 , , NA 17900 0.1458 NA 0.1839 False NA ,,, NA NA NA 2504 0.18 NA NA NA NA 0 A 1330,2370 250,830,770 132 124 126 -0.8 0 3 dbSNP_119 126 1392,6802 121,1150,2826 no intron ULK4 NM_017886.2 371,1980,3596 CC,CA,AA 16.988,35.9459,22.8855 41795841 2722,9172 1850 4097 5947 SO:0001627 intron_variant AK000581 CCDS43071.1 3p22.1 2013-07-02 2013-07-02 ENSG00000168038 ENSG00000168038 54986 15784 protein-coding gene gene with protein product unc-51-like kinase 4 (C. elegans) NA 12477932 Standard XM_929989 NM_017886 NA Approved FLJ20574, REC01035, FAM7C1 uc003ckv.4 Q96C45 OTTHUMG00000156210 ENST00000301831.4:c.2321+11T>G chr3.hg19:g.41795841A>C NA A6NF15|Q8IW79|Q9NWV6|Q9UF96 hg19 CCDS43071.1 0.02 4.251537 CAGxGAA COVERED NOVEL ULK4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000343490.1 2 7.822935 KEEP 0 0 0 26 821 AA 0.999957 0.999955 0 - 5 60 173 0 0 10.724525 112 60 4074 184 ENST00000301831.4 0.042735 0.999998 ULK4 54986 __UNKNOWN__ __UNKNOWN__ 3 41877414 41877414 __UNKNOWN__ Missense_Mutation SNP T T C rs3774372 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:41877414T>C ENST00000301831.4 - 18 2168 c.1706A>G c.(1705-1707)aAa>aGa p.K569R NM_017886.2 NP_060356.2 Q96C45 ULK4_HUMAN unc-51 like kinase 4 569 NA K -> R (in dbSNP:rs3774372). AIVLLTELIRENFRNSKLKQCLLPTLGE -> TTSSIGIGI LNCLVQHSTPVPRQCLVYV (in Ref. 3; AAH14794). {ECO:0000305}. cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674) breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1) 22 KIRC - Kidney renal clear cell carcinoma(284;0.214) CTGTTTTAATTTGCTGTTCCT 0.363 NA T||| 865 0.172724 0.1974 0.1369 5008 , , NA 14471 0.1458 NA 0.1849 False NA ,,, NA NA NA 2504 0.18 NA NA NA NA 0 T ARG/LYS 766,2902 74,618,1142 135 134 135 http://www.ncbi.nlm.nih.gov/pubmed?term 1706 5.5 1 3 dbSNP_107 135 1373,6785 118,1137,2824 yes missense ULK4 NM_017886.2 26 192,1755,3966 CC,CT,TT http://www.ncbi.nlm.nih.gov/pubmed?term 16.8301,20.8833,18.0873 possibly-damaging 569/1276 41877414 2139,9687 1834 4079 5913 SO:0001583 missense AK000581 CCDS43071.1 3p22.1 2013-07-02 2013-07-02 ENSG00000168038 ENSG00000168038 54986 15784 protein-coding gene gene with protein product unc-51-like kinase 4 (C. elegans) NA 12477932 Standard XM_929989 NM_017886 NA Approved FLJ20574, REC01035, FAM7C1 uc003ckv.4 Q96C45 OTTHUMG00000156210 ENST00000301831.4:c.1706A>G chr3.hg19:g.41877414T>C ENSP00000301831:p.Lys569Arg NA A6NF15|Q8IW79|Q9NWV6|Q9UF96 hg19 CCDS43071.1 0.02 6.463742 AATxTGC COVERED 392 0.1794871794871795 105 0.21341463414634146 51 0.1408839779005525 88 0.15384615384615385 148 0.19525065963060687 T 13.98 2.400184 0.42613 0.208833 0.168301 ENSG00000168038 ENST00000301831 T 0.64438 -0.1 5.48 5.48 0.80851 Armadillo-like helical (1);Armadillo-type fold (2); 0.057123 0.64402 U 0.000002 T 0.00039 0.0001 L 0.33485 1.01 0.09310 P 1.0 P 0.42456 0.78 B 0.39027 0.288 T 0.09100 -1.0690 9 0.14252 T 0.57 . 14.0999 0.65049 0.0:0.0:0.0:1.0 rs3774372;rs17216668;rs56443480;rs3774372 569 Q96C45 ULK4_HUMAN R 569 ENSP00000301831:K569R ENSP00000301831:K569R K - 2 0 ULK4 41852418 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 4.095000 0.57728 2.204000 0.70986 0.528000 0.53228 AAA NOVEL ULK4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000343490.1 0 7.523022 KEEP 0 0 0 25 800 TT 0.999931 0.999931 0 - 7 60 253 0 0 15.965958 164 60 5908 239 ENST00000301831.4 0.040936 1 ULK4 54986 __UNKNOWN__ __UNKNOWN__ 3 41900951 41900951 __UNKNOWN__ Intron SNP C C A rs2625667 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:41900951C>A ENST00000301831.4 - 18 2119 NM_017886.2 NP_060356.2 Q96C45 ULK4_HUMAN unc-51 like kinase 4 NA NA cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674) breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1) 22 KIRC - Kidney renal clear cell carcinoma(284;0.214) ATAGCAGAAACCTGGACAGGT 0.463 NA A||| 1579 0.315296 0.7088 0.183 5008 , , NA 20009 0.1468 NA 0.1899 False NA ,,, NA NA NA 2504 0.18 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK000581 CCDS43071.1 3p22.1 2013-07-02 2013-07-02 ENSG00000168038 ENSG00000168038 54986 15784 protein-coding gene gene with protein product unc-51-like kinase 4 (C. elegans) NA 12477932 Standard XM_929989 NM_017886 NA Approved FLJ20574, REC01035, FAM7C1 uc003ckv.4 Q96C45 OTTHUMG00000156210 ENST00000301831.4:c.1657-23488G>T chr3.hg19:g.41900951C>A NA A6NF15|Q8IW79|Q9NWV6|Q9UF96 hg19 CCDS43071.1 0.02 4.167303 AAAxCTG COVERED NOVEL ULK4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000343490.1 0 2.70863 KEEP 0 0 0 9 306 CC 0.99254 0.992537 0 - 6 60 209 0 0 13.536962 109 60 3907 131 ENST00000301831.4 0.052174 0.999997 TRAK1 22906 __UNKNOWN__ __UNKNOWN__ 3 42234758 42234758 __UNKNOWN__ Intron SNP C C A rs3816397 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:42234758C>A ENST00000449246.1 + 7 979 TRAK1_ENST00000327628.5_Intron|TRAK1_ENST00000396175.1_Intron|TRAK1_ENST00000487159.1_Intron|TRAK1_ENST00000341421.3_Intron NM_001265609.1|NM_001265610.1 NP_001252538.1|NP_001252539.1 Q9UPV9 TRAK1_HUMAN trafficking protein, kinesin binding 1 NA NA endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357) cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634) central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 22 GGGGAAGGGACATTTACTCCA 0.418 NA C||| 1883 0.375998 0.2761 0.5375 5008 , , NA 19856 0.4931 NA 0.2783 False NA ,,, NA NA NA 2504 0.3763 NA NA NA GBM(44;195 884 22595 31865 41850) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1 3p22.1 2012-03-05 ENSG00000182606 ENSG00000182606 22906 29947 protein-coding gene gene with protein product OGT(O Glc NAc transferase) interacting protein 106 KDa, O-linked N-acetylglucosamine transferase interacting protein 106, milton homolog 1 (Drosophila) 608112 NA 10470851, 12435728, 16380713, 20230862 Standard NM_014965 NM_014965 NA Approved OIP106, KIAA1042, MILT1 uc003cky.4 Q9UPV9 OTTHUMG00000131795 ENST00000449246.1:c.678+61C>A chr3.hg19:g.42234758C>A NA E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69 hg19 CCDS58826.1 0.02 10.187523 GGAxATT COVERED NOVEL TRAK1-003 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000343383.1 3 19.56422 KEEP 0 0 0 65 2338 CC 1 1 0 + 10 60 340 0 0 20.496125 247 60 9277 406 ENST00000449246.1 0.038911 1 TRAK1 22906 __UNKNOWN__ __UNKNOWN__ 3 42251329 42251329 __UNKNOWN__ Silent SNP C C T rs2290133 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:42251329C>T ENST00000327628.5 + 14 2215 c.1815C>T c.(1813-1815)ccC>ccT p.P605P TRAK1_ENST00000396175.1_Silent_p.P547P|TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000341421.3_Silent_p.P547P NM_001042646.2 NP_001036111.1 Q9UPV9 TRAK1_HUMAN trafficking protein, kinesin binding 1 605 NA endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357) cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634) central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 22 ACCCCCGGCCCGGTGTGGTCA 0.582 NA C||| 1811 0.361621 0.2428 0.5346 5008 , , NA 17180 0.4663 NA 0.2793 False NA ,,, NA NA NA 2504 0.3763 NA NA NA GBM(44;195 884 22595 31865 41850) NA 0 C , 1134,3272 404.4+/-333.1 152,830,1221 79 79 79 1815,1641 -8.8 0.4 3 dbSNP_100 79 2611,5989 423.1+/-354.3 405,1801,2094 no coding-synonymous,coding-synonymous TRAK1 NM_001042646.1,NM_014965.3 , 557,2631,3315 TT,TC,CC 30.3605,25.7376,28.7944 , 605/954,547/687 42251329 3745,9261 2203 4300 6503 SO:0001819 synonymous_variant CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1 3p22.1 2012-03-05 ENSG00000182606 ENSG00000182606 22906 29947 protein-coding gene gene with protein product OGT(O Glc NAc transferase) interacting protein 106 KDa, O-linked N-acetylglucosamine transferase interacting protein 106, milton homolog 1 (Drosophila) 608112 NA 10470851, 12435728, 16380713, 20230862 Standard NM_014965 NM_014965 NA Approved OIP106, KIAA1042, MILT1 uc003cky.4 Q9UPV9 OTTHUMG00000131795 ENST00000327628.5:c.1815C>T chr3.hg19:g.42251329C>T NA E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69 hg19 CCDS43072.1 0.02 9.399649 GCCxGGT COVERED NOVEL TRAK1-004 PUTATIVE basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000343413.1 2 3.682046 KEEP 0 2 65 35 1218 CC 1 1 0 + 16 60 584 0 0 41.443949 195 60 7125 306 ENST00000327628.5 0.075829 1 TRAK1 22906 __UNKNOWN__ __UNKNOWN__ 3 42252924 42252924 __UNKNOWN__ Intron SNP G G C rs7372751 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:42252924G>C ENST00000327628.5 + 14 2363 TRAK1_ENST00000396175.1_Intron|TRAK1_ENST00000487159.1_Intron|TRAK1_ENST00000341421.3_3'UTR NM_001042646.2 NP_001036111.1 Q9UPV9 TRAK1_HUMAN trafficking protein, kinesin binding 1 NA NA endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357) cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634) central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 22 TTTTTTATTTGTTATCTACAC 0.378 NA C||| 2134 0.426118 0.3268 0.572 5008 , , NA 20295 0.4802 NA 0.3648 False NA ,,, NA NA NA 2504 0.4642 NA NA NA GBM(44;195 884 22595 31865 41850) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1 3p22.1 2012-03-05 ENSG00000182606 ENSG00000182606 22906 29947 protein-coding gene gene with protein product OGT(O Glc NAc transferase) interacting protein 106 KDa, O-linked N-acetylglucosamine transferase interacting protein 106, milton homolog 1 (Drosophila) 608112 NA 10470851, 12435728, 16380713, 20230862 Standard NM_014965 NM_014965 NA Approved OIP106, KIAA1042, MILT1 uc003cky.4 Q9UPV9 OTTHUMG00000131795 ENST00000327628.5:c.1963+1447G>C chr3.hg19:g.42252924G>C NA E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69 hg19 CCDS43072.1 0.02 6.957057 TTTxTTA COVERED NOVEL TRAK1-004 PUTATIVE basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000343413.1 0 6.621522 KEEP 0 0 0 22 787 GG 0.999892 0.999892 0 + 7 60 274 0 0 17.840397 176 60 6688 231 ENST00000327628.5 0.038251 1 TRAK1 22906 __UNKNOWN__ __UNKNOWN__ 3 42253757 42253757 __UNKNOWN__ Intron SNP C C T rs9511 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:42253757C>T ENST00000327628.5 + 14 2363 TRAK1_ENST00000396175.1_Intron|TRAK1_ENST00000487159.1_Intron|TRAK1_ENST00000341421.3_3'UTR NM_001042646.2 NP_001036111.1 Q9UPV9 TRAK1_HUMAN trafficking protein, kinesin binding 1 NA NA endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357) cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634) central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 22 CCTTTTAATCCGTCCTCTACG 0.512 NA C||| 1805 0.360423 0.2852 0.4135 5008 , , NA 17427 0.4395 NA 0.3181 False NA ,,, NA NA NA 2504 0.3865 NA NA NA GBM(44;195 884 22595 31865 41850) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1 3p22.1 2012-03-05 ENSG00000182606 ENSG00000182606 22906 29947 protein-coding gene gene with protein product OGT(O Glc NAc transferase) interacting protein 106 KDa, O-linked N-acetylglucosamine transferase interacting protein 106, milton homolog 1 (Drosophila) 608112 NA 10470851, 12435728, 16380713, 20230862 Standard NM_014965 NM_014965 NA Approved OIP106, KIAA1042, MILT1 uc003cky.4 Q9UPV9 OTTHUMG00000131795 ENST00000327628.5:c.1963+2280C>T chr3.hg19:g.42253757C>T NA E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69 hg19 CCDS43072.1 0.02 7.178258 ATCxGTC COVERED NOVEL TRAK1-004 PUTATIVE basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000343413.1 2 5.552137 KEEP 0 1 33 30 987 CC 0.999997 0.999997 0 + 17 60 657 0 0 48.872487 175 60 6042 265 ENST00000327628.5 0.088542 1 VIPR1 7433 __UNKNOWN__ __UNKNOWN__ 3 42568929 42568929 __UNKNOWN__ Silent SNP T T C rs2229722 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:42568929T>C ENST00000325123.4 + 5 557 c.444T>C c.(442-444)atT>atC p.I148I VIPR1-AS1_ENST00000596630.1_RNA|VIPR1-AS1_ENST00000601312.1_RNA|VIPR1-AS1_ENST00000593621.1_RNA|VIPR1-AS1_ENST00000598837.1_RNA|VIPR1-AS1_ENST00000600342.1_RNA|VIPR1_ENST00000433647.1_Silent_p.I107I|VIPR1-AS1_ENST00000602176.1_RNA|VIPR1-AS1_ENST00000452639.3_RNA|VIPR1-AS1_ENST00000593611.1_RNA|VIPR1_ENST00000543411.1_Silent_p.I100I|VIPR1_ENST00000438259.2_Intron|VIPR1_ENST00000473575.1_3'UTR NM_001251885.1|NM_004624.3 NP_001238814.1|NP_004615.2 P32241 VIPR1_HUMAN vasoactive intestinal peptide receptor 1 148 NA digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|muscle contraction (GO:0006936)|positive regulation of cell proliferation (GO:0008284)|synaptic transmission (GO:0007268) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) vasoactive intestinal polypeptide receptor activity (GO:0004999) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3) 18 KIRC - Kidney renal clear cell carcinoma(284;0.241) GCTACACCATTGGCTACGGCC 0.607 NA C||| 1859 0.371206 0.4667 0.2839 5008 , , NA 16535 0.5784 NA 0.1511 False NA ,,, NA NA NA 2504 0.317 NA NA NA NA 0 C 1915,2491 627.0+/-394.8 389,1137,677 122 108 113 444 0.6 0.8 3 dbSNP_98 113 1389,7211 754.1+/-407.5 107,1175,3018 no coding-synonymous VIPR1 NM_004624.3 496,2312,3695 CC,CT,TT 16.1512,43.4635,25.4037 148/458 42568929 3304,9702 2203 4300 6503 SO:0001819 synonymous_variant AH005329 CCDS2698.1, CCDS58827.1, CCDS58828.1, CCDS58829.1 3p22 2012-08-10 ENSG00000114812 ENSG00000114812 7433 GPCR / Class B : VIP and PACAP (ADCYAP1) receptors 12694 protein-coding gene gene with protein product VIP and PACAP receptor 1 192321 NA 7708752 Standard NM_004624 NM_004624 NA Approved VPAC1, RDC1, HVR1, VPAC1R uc003clf.2 P32241 OTTHUMG00000131792 ENST00000325123.4:c.444T>C chr3.hg19:g.42568929T>C NA A5JUT9|B3KPV1|B4DEB5|B4DGI4|F5H1F5|G3V0I1|Q15871|Q6P2M6 hg19 CCDS2698.1 0.02 11.775852 CATxGGC COVERED NOVEL VIPR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254728.4 3 14.442508 KEEP 0 0 0 48 1480 TT 1 1 0 + 20 60 712 0 0 49.086752 272 60 9909 436 ENST00000325123.4 0.068493 1 VIPR1 7433 __UNKNOWN__ __UNKNOWN__ 3 42572783 42572783 __UNKNOWN__ Intron SNP C C T rs143142718 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:42572783C>T ENST00000325123.4 + 8 903 VIPR1-AS1_ENST00000596630.1_RNA|VIPR1-AS1_ENST00000601312.1_RNA|VIPR1-AS1_ENST00000593621.1_RNA|VIPR1-AS1_ENST00000598837.1_RNA|VIPR1-AS1_ENST00000600342.1_RNA|VIPR1_ENST00000433647.1_Intron|VIPR1-AS1_ENST00000602176.1_RNA|VIPR1-AS1_ENST00000452639.3_RNA|VIPR1-AS1_ENST00000593611.1_RNA|VIPR1_ENST00000543411.1_Intron|VIPR1_ENST00000438259.2_Intron NM_001251885.1|NM_004624.3 NP_001238814.1|NP_004615.2 P32241 VIPR1_HUMAN vasoactive intestinal peptide receptor 1 NA NA digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|muscle contraction (GO:0006936)|positive regulation of cell proliferation (GO:0008284)|synaptic transmission (GO:0007268) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) vasoactive intestinal polypeptide receptor activity (GO:0004999) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3) 18 KIRC - Kidney renal clear cell carcinoma(284;0.241) tacagcttCACCCCCTCAGTG 0.507 NA C||| 72 0.014377 0.0008 0.0 5008 , , NA 19481 0.0694 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AH005329 CCDS2698.1, CCDS58827.1, CCDS58828.1, CCDS58829.1 3p22 2012-08-10 ENSG00000114812 ENSG00000114812 7433 GPCR / Class B : VIP and PACAP (ADCYAP1) receptors 12694 protein-coding gene gene with protein product VIP and PACAP receptor 1 192321 NA 7708752 Standard NM_004624 NM_004624 NA Approved VPAC1, RDC1, HVR1, VPAC1R uc003clf.2 P32241 OTTHUMG00000131792 ENST00000325123.4:c.791-180C>T chr3.hg19:g.42572783C>T NA A5JUT9|B3KPV1|B4DEB5|B4DGI4|F5H1F5|G3V0I1|Q15871|Q6P2M6 hg19 CCDS2698.1 0.02 6.143777 TCAxCCC COVERED NOVEL VIPR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254728.4 0 3.61172 KEEP 0 0 0 12 419 CC 0.993634 0.993634 0 + 12 60 432 0 0 30.355019 150 60 5518 187 ENST00000325123.4 0.074074 1 CCDC13 152206 __UNKNOWN__ __UNKNOWN__ 3 42781276 42781276 __UNKNOWN__ Silent SNP G G T rs62246603 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:42781276G>T ENST00000310232.6 - 9 1097 c.1014C>A c.(1012-1014)ctC>ctA p.L338L CCDC13-AS1_ENST00000446950.1_RNA|CCDC13-AS1_ENST00000418161.1_RNA NM_144719.3 NP_653320.3 Q8IYE1 CCD13_HUMAN coiled-coil domain containing 13 338 NA endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1) 25 GCTCTCTCTGGAGGACATCCC 0.522 NA G||| 997 0.199081 0.1362 0.1686 5008 , , NA 19669 0.1597 NA 0.2674 False NA ,,, NA NA NA 2504 0.2761 NA NA NA NA 0 G 692,3714 293.0+/-282.3 53,586,1564 147 127 134 1014 -1.7 0.8 3 dbSNP_129 134 2339,6261 392.8+/-344.1 302,1735,2263 no coding-synonymous CCDC13 NM_144719.3 355,2321,3827 TT,TG,GG 27.1977,15.7059,23.3046 338/716 42781276 3031,9975 2203 4300 6503 SO:0001819 synonymous_variant AK058196 CCDS2705.1 3p22.1 2005-01-25 ENSG00000244607 ENSG00000244607 152206 26358 protein-coding gene gene with protein product NA 12477932 Standard NM_144719 NM_144719 NA Approved FLJ25467 uc003cly.4 Q8IYE1 OTTHUMG00000133046 ENST00000310232.6:c.1014C>A chr3.hg19:g.42781276G>T NA hg19 CCDS2705.1 0.02 6.226679 CTGxAGG COVERED NOVEL CCDC13-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256652.1 2 5.689184 KEEP 0 2 48 36 1273 GG 1 1 0 - 9 60 324 0 0 20.802564 189 60 7092 298 ENST00000310232.6 0.045455 1 CCDC13 152206 __UNKNOWN__ __UNKNOWN__ 3 42784630 42784630 __UNKNOWN__ Intron SNP A A G rs12635736 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:42784630A>G ENST00000310232.6 - 8 909 CCDC13-AS1_ENST00000446950.1_RNA|CCDC13-AS1_ENST00000418161.1_RNA NM_144719.3 NP_653320.3 Q8IYE1 CCD13_HUMAN coiled-coil domain containing 13 NA NA endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1) 25 GAGACCCCACAGACTGAAGAT 0.517 NA G||| 2623 0.523762 0.6172 0.4078 5008 , , NA 13005 0.4643 NA 0.4592 False NA ,,, NA NA NA 2504 0.6074 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK058196 CCDS2705.1 3p22.1 2005-01-25 ENSG00000244607 ENSG00000244607 152206 26358 protein-coding gene gene with protein product NA 12477932 Standard NM_144719 NM_144719 NA Approved FLJ25467 uc003cly.4 Q8IYE1 OTTHUMG00000133046 ENST00000310232.6:c.826-81T>C chr3.hg19:g.42784630A>G NA hg19 CCDS2705.1 0.02 1.762691 CACxGAC COVERED NOVEL CCDC13-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256652.1 0 4.512401 KEEP 0 0 0 15 446 AA 0.99649 0.984476 0 - 4 60 134 0 0 8.929741 56 60 2059 79 ENST00000310232.6 0.066667 0.987943 CCDC13 152206 __UNKNOWN__ __UNKNOWN__ 3 42787469 42787469 __UNKNOWN__ Silent SNP A A G rs2240859 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:42787469A>G ENST00000310232.6 - 7 854 c.771T>C c.(769-771)tcT>tcC p.S257S CCDC13-AS1_ENST00000418161.1_RNA NM_144719.3 NP_653320.3 Q8IYE1 CCD13_HUMAN coiled-coil domain containing 13 257 NA endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1) 25 TCCCTGGCGAAGATAGGAGCT 0.512 NA G||| 2511 0.501398 0.5439 0.402 5008 , , NA 18576 0.4534 NA 0.4592 False NA ,,, NA NA NA 2504 0.6074 NA NA NA NA 0 G 2397,2009 561.2+/-380.7 650,1097,456 93 90 91 771 2.1 0.9 3 dbSNP_98 91 3943,4657 602.8+/-394.6 898,2147,1255 yes coding-synonymous CCDC13 NM_144719.3 1548,3244,1711 GG,GA,AA 45.8488,45.5969,48.7467 257/716 42787469 6340,6666 2203 4300 6503 SO:0001819 synonymous_variant AK058196 CCDS2705.1 3p22.1 2005-01-25 ENSG00000244607 ENSG00000244607 152206 26358 protein-coding gene gene with protein product NA 12477932 Standard NM_144719 NM_144719 NA Approved FLJ25467 uc003cly.4 Q8IYE1 OTTHUMG00000133046 ENST00000310232.6:c.771T>C chr3.hg19:g.42787469A>G NA hg19 CCDS2705.1 0.02 4.652056 CGAxGAT COVERED NOVEL CCDC13-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256652.1 0 14.743583 KEEP 0 0 0 49 1539 AA 1 1 0 - 6 60 236 0 0 15.947015 122 60 4463 230 ENST00000310232.6 0.046875 1 CCDC13 152206 __UNKNOWN__ __UNKNOWN__ 3 42799765 42799765 __UNKNOWN__ Missense_Mutation SNP G G A rs17238798 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:42799765G>A ENST00000310232.6 - 2 156 c.73C>T c.(73-75)Cgg>Tgg p.R25W CCDC13_ENST00000435327.2_5'UTR NM_144719.3 NP_653320.3 Q8IYE1 CCD13_HUMAN coiled-coil domain containing 13 25 NA R -> W (in dbSNP:rs17238798). endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1) 25 TTCTGTAACCGTTTGTGCTGC 0.507 NA G||| 840 0.167732 0.0144 0.1571 5008 , , NA 18102 0.1667 NA 0.2694 False NA ,,, NA NA NA 2504 0.2791 NA NA NA NA 0 G TRP/ARG 248,4158 145.4+/-180.2 9,230,1964 205 164 178 73 0.8 0 3 dbSNP_123 178 2344,6256 393.5+/-344.4 304,1736,2260 yes missense CCDC13 NM_144719.3 101 313,1966,4224 AA,AG,GG 27.2558,5.6287,19.9293 probably-damaging 25/716 42799765 2592,10414 2203 4300 6503 SO:0001583 missense AK058196 CCDS2705.1 3p22.1 2005-01-25 ENSG00000244607 ENSG00000244607 152206 26358 protein-coding gene gene with protein product NA 12477932 Standard NM_144719 NM_144719 NA Approved FLJ25467 uc003cly.4 Q8IYE1 OTTHUMG00000133046 ENST00000310232.6:c.73C>T chr3.hg19:g.42799765G>A ENSP00000309836:p.Arg25Trp NA hg19 CCDS2705.1 0.02 6.389172 ACCxTTT COVERED 385 0.1762820512820513 15 0.03048780487804878 71 0.19613259668508287 90 0.15734265734265734 209 0.2757255936675462 G 12.73 2.024097 0.35701 0.056287 0.272558 ENSG00000244607 ENST00000310232 T 0.37752 1.18 4.61 0.786 0.18590 . 0.050977 0.64402 D 0.000001 T 0.00012 0.0000 M 0.75447 2.3 0.58432 P 5.000000000032756E-6 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.81914 0.995;0.995;0.977 T 0.12218 -1.0556 9 0.87932 D 0 . 12.9469 0.58376 0.0:0.0:0.6736:0.3264 rs17238798;rs17238798 25;25;25 B4DZD2;Q96LI1;Q8IYE1 .;.;CCD13_HUMAN W 25 ENSP00000309836:R25W ENSP00000309836:R25W R - 1 2 CCDC13 42774769 0.021000 0.18746 0.002000 0.10522 0.354000 0.29330 -0.396000 0.07278 -0.023000 0.13963 -0.457000 0.05445 CGG NOVEL CCDC13-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256652.1 1 10.533901 KEEP 0 0 0 35 1203 GG 0.999999 0.999999 0 - 15 60 551 0 0 39.442946 176 60 6021 271 ENST00000310232.6 0.078534 1 EXOSC7 23016 __UNKNOWN__ __UNKNOWN__ 3 45048150 45048150 __UNKNOWN__ Intron SNP T T C rs6441879 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:45048150T>C ENST00000265564.7 + 7 663 EXOSC7_ENST00000461361.1_Intron|CLEC3B_ENST00000490386.1_Intron NM_015004.3 NP_055819.2 Q15024 EXOS7_HUMAN exosome component 7 NA NA exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364) cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleus (GO:0005634) 3'-5'-exoribonuclease activity (GO:0000175)|RNA binding (GO:0003723) endometrium(3)|large_intestine(1)|lung(3) 7 BRCA - Breast invasive adenocarcinoma(193;0.00911)|KIRC - Kidney renal clear cell carcinoma(197;0.0509)|Kidney(197;0.064) cctcatgatctgcccgcctcg 0.577 NA -||| 3608 0.720447 0.7731 0.6254 5008 , , NA 9478 0.9077 NA 0.4841 False NA ,,, NA NA NA 2504 0.7669 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC012831 CCDS2725.1 3p21.32 2010-05-07 ENSG00000075914 ENSG00000075914 23016 3.1.13.- 28112 protein-coding gene gene with protein product 606488 NA 11719186, 11812149 Standard NM_015004 NR_023353 NA Approved hRrp42p, Rrp42p, RRP42, EAP1, KIAA0116, p8 uc003coi.2 Q15024 OTTHUMG00000133095 ENST00000265564.7:c.616-762T>C chr3.hg19:g.45048150T>C NA Q96E72 hg19 CCDS2725.1 0.02 -0.02632 ATCxGCC UNCOVERED NOVEL EXOSC7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256754.2 4 2.407074 KEEP 6 0 0 8 251 TT 0 0 0 + 3 25 113 0 0 12.73109 0 0 0 13 ENST00000265564.7 1 0 EXOSC7 23016 __UNKNOWN__ __UNKNOWN__ 3 45048151 45048151 __UNKNOWN__ Intron SNP G G A rs6441880 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:45048151G>A ENST00000265564.7 + 7 663 EXOSC7_ENST00000461361.1_Intron|CLEC3B_ENST00000490386.1_Intron NM_015004.3 NP_055819.2 Q15024 EXOS7_HUMAN exosome component 7 NA NA exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364) cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleus (GO:0005634) 3'-5'-exoribonuclease activity (GO:0000175)|RNA binding (GO:0003723) endometrium(3)|large_intestine(1)|lung(3) 7 BRCA - Breast invasive adenocarcinoma(193;0.00911)|KIRC - Kidney renal clear cell carcinoma(197;0.0509)|Kidney(197;0.064) ctcatgatctgcccgcctcgg 0.582 NA -||| 3600 0.71885 0.7716 0.6239 5008 , , NA 9716 0.9038 NA 0.4841 False NA ,,, NA NA NA 2504 0.7658 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC012831 CCDS2725.1 3p21.32 2010-05-07 ENSG00000075914 ENSG00000075914 23016 3.1.13.- 28112 protein-coding gene gene with protein product 606488 NA 11719186, 11812149 Standard NM_015004 NR_023353 NA Approved hRrp42p, Rrp42p, RRP42, EAP1, KIAA0116, p8 uc003coi.2 Q15024 OTTHUMG00000133095 ENST00000265564.7:c.616-761G>A chr3.hg19:g.45048151G>A NA Q96E72 hg19 CCDS2725.1 0.02 -0.017546 TCTxCCC UNCOVERED NOVEL EXOSC7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256754.2 4 2.407968 KEEP 6 0 0 8 293 GG 0 0 0 + 2 25 74 0 0 8.354026 0 0 0 14 ENST00000265564.7 1 0 LARS2 23395 __UNKNOWN__ __UNKNOWN__ 3 45517844 45517844 __UNKNOWN__ Intron SNP A A G rs547573751 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:45517844A>G ENST00000415258.1 + 9 999 LARS2_ENST00000414984.1_Intron|LARS2_ENST00000265537.3_Intron Q15031 SYLM_HUMAN leucyl-tRNA synthetase 2, mitochondrial NA NA gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418) mitochondrial matrix (GO:0005759) aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823) endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 18 BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372) L-Leucine(DB00149) CCCAGTGGTCAGAGCTGTGGT 0.547 NA A||| 5 0.000998403 0.0 0.0 5008 , , NA 18480 0.005 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ312685 CCDS2728.1 3p21.3 2012-10-26 ENSG00000011376 ENSG00000011376 23395 6.1.1.4 Aminoacyl tRNA synthetases / Class I 17095 protein-coding gene gene with protein product leucine tRNA ligase 2, mitochondrial 604544 NA 20194621, 15123417 Standard NM_015340 NM_015340 NA Approved KIAA0028, LEURS, MGC26121 uc003cop.1 Q15031 OTTHUMG00000133177 ENST00000415258.1:c.859-116A>G chr3.hg19:g.45517844A>G NA hg19 CCDS2728.1 0.02 2.53998 GTCxGAG COVERED NOVEL LARS2-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000345001.1 0 3.609992 KEEP 0 0 0 12 380 AA 0.993634 0.957638 0 + 5 60 165 0 0 11.786074 46 60 1671 76 ENST00000415258.1 0.098039 0.963774 LARS2 23395 __UNKNOWN__ __UNKNOWN__ 3 45583297 45583297 __UNKNOWN__ Intron SNP C C T rs34191038 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:45583297C>T ENST00000415258.1 + 20 2545 LARS2_ENST00000414984.1_Intron|LARS2_ENST00000265537.3_Intron Q15031 SYLM_HUMAN leucyl-tRNA synthetase 2, mitochondrial NA NA gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418) mitochondrial matrix (GO:0005759) aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823) endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 18 BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372) L-Leucine(DB00149) AGTGACCCCACGCTTCTGTGC 0.612 NA C||| 647 0.129193 0.0915 0.1167 5008 , , NA 19961 0.126 NA 0.169 False NA ,,, NA NA NA 2504 0.1513 NA NA NA NA 0 C 530,3876 238.4+/-249.8 37,456,1710 42 39 40 0.2 0.1 3 dbSNP_126 40 1578,7022 292.3+/-300.8 128,1322,2850 no intron LARS2 NM_015340.3 165,1778,4560 TT,TC,CC 18.3488,12.0291,16.2079 45583297 2108,10898 2203 4300 6503 SO:0001627 intron_variant AJ312685 CCDS2728.1 3p21.3 2012-10-26 ENSG00000011376 ENSG00000011376 23395 6.1.1.4 Aminoacyl tRNA synthetases / Class I 17095 protein-coding gene gene with protein product leucine tRNA ligase 2, mitochondrial 604544 NA 20194621, 15123417 Standard NM_015340 NM_015340 NA Approved KIAA0028, LEURS, MGC26121 uc003cop.1 Q15031 OTTHUMG00000133177 ENST00000415258.1:c.2405-24C>T chr3.hg19:g.45583297C>T NA hg19 CCDS2728.1 0.02 1.869168 CCAxGCT COVERED NOVEL LARS2-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000345001.1 1 4.213343 KEEP 0 0 0 14 483 CC 0.995343 0.994753 0 + 5 60 184 0 0 12.611466 77 60 2732 100 ENST00000415258.1 0.060976 0.999407 SACM1L 22908 __UNKNOWN__ __UNKNOWN__ 3 45781057 45781057 __UNKNOWN__ Intron SNP C C T rs189930335 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:45781057C>T ENST00000389061.5 + 19 1773 SACM1L_ENST00000541314.1_Intron|SACM1L_ENST00000418611.1_Intron NM_014016.3 NP_054735.3 Q9NTJ5 SAC1_HUMAN SAC1 suppressor of actin mutations 1-like (yeast) NA NA phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281) alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176) phosphatase activity (GO:0016791)|phosphatidylinositol bisphosphate phosphatase activity (GO:0034593)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1) 23 BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277) AAATGATGATCTCTTTCTATT 0.368 NA C||| 4 0.000798722 0.0 0.0 5008 , , NA 21873 0.004 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 360 313 329 NA NA 3 NA 45781057 2203 4299 6502 SO:0001627 intron_variant AB020658 CCDS33745.1 3p21.3 2010-03-11 ENSG00000211456 ENSG00000211456 22908 17059 protein-coding gene gene with protein product 606569 NA 10048485, 11352561 Standard NM_014016 NM_014016 NA Approved SAC1, KIAA0851 uc003cos.2 Q9NTJ5 OTTHUMG00000156653 ENST00000389061.5:c.1570-22C>T chr3.hg19:g.45781057C>T NA A8K527|B4DK71|O94935|Q7LA14|Q7LA22|Q96AX7|Q9NQ46|Q9NQ57 hg19 CCDS33745.1 0.02 6.678435 GATxTCT COVERED NOVEL SACM1L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000345065.2 0 7.52424 KEEP 0 0 0 25 872 CC 0.999931 0.999931 0 + 16 60 572 0 0 40.922986 176 60 6742 257 ENST00000389061.5 0.083333 1 CCR2 729230 __UNKNOWN__ __UNKNOWN__ 3 46399798 46399798 __UNKNOWN__ Silent SNP T T C rs1799865 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:46399798T>C ENST00000400888.2 + 1 819 c.780T>C c.(778-780)aaT>aaC p.N260N CCR2_ENST00000445132.2_Silent_p.N260N|CCR2_ENST00000292301.4_Silent_p.N260N|CCR2_ENST00000465202.1_3'UTR P41597 CCR2_HUMAN chemokine (C-C motif) receptor 2 260 NA blood vessel remodeling (GO:0001974)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular homeostasis (GO:0019725)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell chemotaxis (GO:0002407)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JAK-STAT cascade (GO:0007259)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of angiogenesis (GO:0016525)|negative regulation of eosinophil degranulation (GO:0043310)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of astrocyte chemotaxis (GO:2000464)|positive regulation of CD8-positive, alpha-beta T cell extravasation (GO:2000451)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of immune complex clearance by monocytes and macrophages (GO:0090265)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of monocyte extravasation (GO:2000439)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of vascular endothelial growth factor production (GO:0010574)|response to wounding (GO:0009611)|T-helper 17 cell chemotaxis (GO:0035705)|viral process (GO:0016032) cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886) C-C chemokine receptor activity (GO:0016493)|CCR2 chemokine receptor binding (GO:0031727)|chemokine receptor activity (GO:0004950)|protein homodimerization activity (GO:0042803) breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7) 14 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206) CTCCCTATAATATTGTCATTC 0.473 NA C||| 1645 0.328474 0.3132 0.3415 5008 , , NA 21062 0.3185 NA 0.3072 False NA ,,, NA NA NA 2504 0.3722 NA NA NA NA 0 C , 1078,2058 184,710,674 144 136 138 780,780 3.1 0.6 3 dbSNP_89 138 2300,4864 390,1520,1672 no coding-synonymous,coding-synonymous CCR2 NM_001123041.2,NM_001123396.1 , 574,2230,2346 CC,CT,TT 32.105,34.375,32.7961 , 260/375,260/361 46399798 3378,6922 1568 3582 5150 SO:0001819 synonymous_variant CCDS43078.1, CCDS46813.1 3p21 2012-08-08 ENSG00000121807 ENSG00000121807 729230 GPCR / Class A : Chemokine receptors : C-C motif, CD molecules 1603 protein-coding gene gene with protein product 601267 CMKBR2 NA 8146186 Standard NM_000647 NM_001123041 NA Approved CC-CKR-2, CKR2, MCP-1-R, CD192, FLJ78302 uc003cpn.4 P41597 OTTHUMG00000156466 ENST00000400888.2:c.780T>C chr3.hg19:g.46399798T>C NA A0AVQ3|B2RMT0|Q4VBL2 hg19 CCDS43078.1 0.02 25.29769 TAAxATT COVERED NOVEL CCR2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000344292.1 3 17.15083 KEEP 0 0 0 57 1755 TT 1 1 0 + 23 60 872 0 0 56.040568 564 60 20561 762 ENST00000400888.2 0.039182 1 LTF 4057 __UNKNOWN__ __UNKNOWN__ 3 46477222 46477222 __UNKNOWN__ 3'UTR SNP C C T rs34278344 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:46477222C>T ENST00000231751.4 - 0 2892 NM_002343.3 NP_002334.2 P02788 TRFL_HUMAN lactotransferrin NA NA antibacterial humoral response (GO:0019731)|antifungal humoral response (GO:0019732)|bone morphogenesis (GO:0060349)|humoral immune response (GO:0006959)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|iron assimilation by chelation and transport (GO:0033214)|iron ion transport (GO:0006826)|negative regulation of apoptotic process (GO:0043066)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of osteoclast development (GO:2001205)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|negative regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000308)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|regulation of cytokine production (GO:0001817)|regulation of tumor necrosis factor production (GO:0032680)|response to host immune response (GO:0052572)|retina homeostasis (GO:0001895)|transcription, DNA-templated (GO:0006351) extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|phagocytic vesicle lumen (GO:0097013)|secretory granule (GO:0030141)|specific granule (GO:0042581) DNA binding (GO:0003677)|ferric iron binding (GO:0008199)|heparin binding (GO:0008201)|iron ion binding (GO:0005506)|protein serine/threonine kinase activator activity (GO:0043539)|serine-type endopeptidase activity (GO:0004252) NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 40 all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089) CCTATGCTTGCTCTTCCTGCC 0.443 NA C||| 1391 0.277756 0.0681 0.3501 5008 , , NA 19451 0.3621 NA 0.3221 False NA ,,, NA NA NA 2504 0.3773 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS33747.1, CCDS56251.1 3p21.31 2012-10-02 ENSG00000012223 ENSG00000012223 4057 6720 protein-coding gene gene with protein product 150210 NA 17476971, 3356163 Standard NM_002343 NM_001199149 NA Approved HLF2 uc003cpq.3 P02788 OTTHUMG00000156325 ENST00000231751.4:c.*464G>A chr3.hg19:g.46477222C>T NA A8K9U8|B2MV13|B7Z4X2|E7EQH5|O00756|Q16780|Q16785|Q16786|Q16789|Q5DSM0|Q8IU92|Q8IZH6|Q8TCD2|Q96KZ4|Q96KZ5|Q9H1Z3|Q9UCY5 hg19 CCDS33747.1 0.02 4.100377 TTGxTCT COVERED NOVEL LTF-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000343951.2 0 6.320761 KEEP 0 0 0 21 763 CC 0.999869 0.999869 0 - 6 60 208 0 0 13.034443 128 60 4818 205 ENST00000231751.4 0.044776 1 LTF 4057 __UNKNOWN__ __UNKNOWN__ 3 46501205 46501205 __UNKNOWN__ Missense_Mutation SNP C C T rs17855496 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:46501205C>T ENST00000417439.1 - 2 148 c.148G>A c.(148-150)Ggc>Agc p.G50S LTF_ENST00000231751.4_Missense_Mutation_p.G50S|LTF_ENST00000426532.2_Missense_Mutation_p.G6S P02788 TRFL_HUMAN lactotransferrin 50 Involved in glycosaminoglycan binding.|Transferrin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00741}. NA antibacterial humoral response (GO:0019731)|antifungal humoral response (GO:0019732)|bone morphogenesis (GO:0060349)|humoral immune response (GO:0006959)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|iron assimilation by chelation and transport (GO:0033214)|iron ion transport (GO:0006826)|negative regulation of apoptotic process (GO:0043066)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of osteoclast development (GO:2001205)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|negative regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000308)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|regulation of cytokine production (GO:0001817)|regulation of tumor necrosis factor production (GO:0032680)|response to host immune response (GO:0052572)|retina homeostasis (GO:0001895)|transcription, DNA-templated (GO:0006351) extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|phagocytic vesicle lumen (GO:0097013)|secretory granule (GO:0030141)|specific granule (GO:0042581) DNA binding (GO:0003677)|ferric iron binding (GO:0008199)|heparin binding (GO:0008201)|iron ion binding (GO:0005506)|protein serine/threonine kinase activator activity (GO:0043539)|serine-type endopeptidase activity (GO:0004252) NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 40 all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089) ACAGGAGGGCCACGCACTTTT 0.557 NA C||| 6 0.00119808 0.0 0.0014 5008 , , NA 17919 0.005 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 151 136 141 NA NA 3 NA 46501205 2203 4300 6503 SO:0001583 missense CCDS33747.1, CCDS56251.1 3p21.31 2012-10-02 ENSG00000012223 ENSG00000012223 4057 6720 protein-coding gene gene with protein product 150210 NA 17476971, 3356163 Standard NM_002343 NM_001199149 NA Approved HLF2 uc003cpq.3 P02788 OTTHUMG00000156325 ENST00000417439.1:c.148G>A chr3.hg19:g.46501205C>T ENSP00000405546:p.Gly50Ser NA A8K9U8|B2MV13|B7Z4X2|E7EQH5|O00756|Q16780|Q16785|Q16786|Q16789|Q5DSM0|Q8IU92|Q8IZH6|Q8TCD2|Q96KZ4|Q96KZ5|Q9H1Z3|Q9UCY5 hg19 0.02 8.404607 GGCxACG COVERED 1 4.578754578754579E-4 0 0.0 0 0.0 1 0.0017482517482517483 0 0.0 C 13.40 2.227322 0.39399 . . ENSG00000012223 ENST00000231751;ENST00000426532;ENST00000417439;ENST00000443496;ENST00000443743;ENST00000431944;ENST00000415180 T;T;T;T;T;T 0.33438 1.41;1.41;1.41;1.41;1.41;1.41 4.83 -2.28 0.06826 . 0.544367 0.16395 N 0.216272 T 0.26304 0.0642 L 0.43152 1.355 0.09310 N 1 B;P;B 0.41232 0.107;0.743;0.107 B;P;B 0.48770 0.125;0.589;0.125 T 0.13388 -1.0511 10 0.39692 T 0.17 -3.3533 2.6706 0.05066 0.1403:0.2739:0.4124:0.1734 . 50;37;50 E7ER44;E7EQB2;P02788 .;.;TRFL_HUMAN S 50;6;50;37;50;61;6 ENSP00000231751:G50S;ENSP00000405719:G6S;ENSP00000405546:G50S;ENSP00000397427:G37S;ENSP00000395234:G61S;ENSP00000400254:G6S ENSP00000231751:G50S G - 1 0 LTF 46476209 0.000000 0.05858 0.000000 0.03702 0.017000 0.09413 -0.702000 0.05069 -0.212000 0.10109 0.650000 0.86243 GGC NOVEL LTF-003 NOVEL basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000343953.1 1 10.835129 KEEP 0 0 0 36 1266 CC 0.999999 0.999999 0 - 11 60 376 0 0 23.900083 211 70 7766 296 ENST00000417439.1 0.04955 1 LRRC2 79442 __UNKNOWN__ __UNKNOWN__ 3 46558154 46558154 __UNKNOWN__ 3'UTR SNP C C G rs34924380 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:46558154C>G ENST00000395905.3 - 0 3858 NM_024512.4 NP_078788.2 Q9BYS8 LRRC2_HUMAN leucine rich repeat containing 2 NA NA breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 17 Ovarian(412;0.0563) OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254) tgaaccccagcctgggccttg 0.502 NA C||| 570 0.113818 0.1445 0.1254 5008 , , NA 17843 0.0377 NA 0.1143 False NA ,,, NA NA NA 2504 0.1421 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ308569 CCDS2741.1 3p21.3 2014-07-30 2003-11-19 ENSG00000163827 ENSG00000163827 79442 14676 protein-coding gene gene with protein product 607180 leucine-rich repeat-containing 2 NA 11896456 Standard NM_024512 NA Approved uc010hji.3 Q9BYS8 OTTHUMG00000133479 ENST00000395905.3:c.*2350G>C chr3.hg19:g.46558154C>G NA B2RDQ7|Q96LT5 hg19 CCDS2741.1 0.02 1.899185 CAGxCTG COVERED NOVEL LRRC2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257375.2 0 8.12653 KEEP 0 0 0 27 958 CC 0.999988 0.999823 0 - 5 60 185 0 0 12.504454 85 60 3057 135 ENST00000395905.3 0.055556 0.999835 TDGF1 6997 __UNKNOWN__ __UNKNOWN__ 3 46620614 46620614 __UNKNOWN__ Missense_Mutation SNP T T C rs11130097 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:46620614T>C ENST00000296145.5 + 2 798 c.65T>C c.(64-66)gTc>gCc p.V22A LRRC2_ENST00000296144.3_Intron|TDGF1_ENST00000542931.1_Missense_Mutation_p.V6A NM_003212.3 NP_003203.1 P13385 TDGF1_HUMAN teratocarcinoma-derived growth factor 1 22 NA V -> A (in dbSNP:rs11130097). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.4}. activation of MAPK activity (GO:0000187)|anterior/posterior axis specification, embryo (GO:0008595)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle cell differentiation (GO:0055007)|cell differentiation (GO:0030154)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to interferon-gamma (GO:0071346)|cellular response to interleukin-6 (GO:0071354)|cellular response to tumor necrosis factor (GO:0071356)|embryo development (GO:0009790)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of signal transduction (GO:0009966)|vasculogenesis (GO:0001570) anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471) growth factor activity (GO:0008083)|receptor binding (GO:0005102) cervix(2)|endometrium(1)|kidney(1)|lung(4) 8 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204) ATTTCTAAAGTCTTTGAACTG 0.383 NA C||| 2539 0.506989 0.4887 0.4942 5008 , , NA 18591 0.4157 NA 0.5497 False NA ,,, NA NA NA 2504 0.591 NA NA NA NA 0 C ALA/VAL,ALA/VAL 2150,2256 595.8+/-388.5 529,1092,582 196 181 186 17,65 1.4 0 3 dbSNP_120 186 4576,4024 556.1+/-386.8 1203,2170,927 yes missense,missense TDGF1 NM_001174136.1,NM_003212.3 64,64 1732,3262,1509 CC,CT,TT 46.7907,48.7971,48.2854 benign,benign 6/173,22/189 46620614 6726,6280 2203 4300 6503 SO:0001583 missense M96955 CCDS2742.1, CCDS54575.1 3p21.31 2012-10-03 ENSG00000241186 ENSG00000241186 6997 11701 protein-coding gene gene with protein product 187395 NA 1882841, 10393436 Standard NM_003212 NM_003212 NA Approved CRIPTO, CR, Cripto-1 uc021wxd.1 P13385 OTTHUMG00000133482 ENST00000296145.5:c.65T>C chr3.hg19:g.46620614T>C ENSP00000296145:p.Val22Ala NA Q8TCC1 hg19 CCDS2742.1 0.02 7.050591 AAGxCTT COVERED 1020 0.46703296703296704 205 0.4166666666666667 182 0.5027624309392266 227 0.3968531468531469 406 0.5356200527704486 C 0.005 -2.153231 0.00325 0.487971 0.532093 ENSG00000241186 ENST00000542931;ENST00000296145 T;T 0.60171 0.21;0.23 4.17 1.43 0.22495 . 0.643479 0.15159 N 0.277248 T 0.00012 0.0000 N 0.00823 -1.155 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.45585 -0.9251 9 0.02654 T 1 . 6.6908 0.23169 0.0:0.6052:0.0:0.3948 rs11130097;rs17855497;rs11130097 22 P13385 TDGF1_HUMAN A 6;22 ENSP00000446375:V6A;ENSP00000296145:V22A ENSP00000296145:V22A V + 2 0 AC104304.1 46595618 0.000000 0.05858 0.003000 0.11579 0.197000 0.23852 -0.226000 0.09139 0.064000 0.16427 -0.735000 0.03563 GTC NOVEL TDGF1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257378.2 1 13.23562 KEEP 0 0 0 44 1321 TT 1 1 0 + 8 60 306 0 0 20.604622 153 60 5338 252 ENST00000296145.5 0.049689 1 TDGF1 6997 __UNKNOWN__ __UNKNOWN__ 3 46654054 46654054 __UNKNOWN__ 3'UTR SNP G G C rs58551379 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:46654054G>C ENST00000444264.1 + 0 130 P13385 TDGF1_HUMAN teratocarcinoma-derived growth factor 1 NA NA activation of MAPK activity (GO:0000187)|anterior/posterior axis specification, embryo (GO:0008595)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle cell differentiation (GO:0055007)|cell differentiation (GO:0030154)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to interferon-gamma (GO:0071346)|cellular response to interleukin-6 (GO:0071354)|cellular response to tumor necrosis factor (GO:0071356)|embryo development (GO:0009790)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of signal transduction (GO:0009966)|vasculogenesis (GO:0001570) anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471) growth factor activity (GO:0008083)|receptor binding (GO:0005102) cervix(2)|endometrium(1)|kidney(1)|lung(4) 8 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204) AGGGACAAATGTTCCTTTGTT 0.463 NA G||| 166 0.033147 0.0023 0.062 5008 , , NA 20331 0.0278 NA 0.0239 False NA ,,, NA NA NA 2504 0.0695 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M96955 CCDS2742.1, CCDS54575.1 3p21.31 2012-10-03 ENSG00000241186 ENSG00000241186 6997 11701 protein-coding gene gene with protein product 187395 NA 1882841, 10393436 Standard NM_003212 NM_003212 NA Approved CRIPTO, CR, Cripto-1 uc021wxd.1 P13385 OTTHUMG00000133482 ENST00000444264.1:c.*127G>C chr3.hg19:g.46654054G>C NA Q8TCC1 hg19 0.02 4.983341 AATxTTC COVERED NOVEL TDGF1-006 PUTATIVE basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000344228.1 2 3.310578 KEEP 0 0 0 11 375 GG 0.993072 0.993068 0 + 6 60 229 0 0 15.604683 106 60 3996 129 ENST00000444264.1 0.053571 0.999995 ALS2CL 259173 __UNKNOWN__ __UNKNOWN__ 3 46711135 46711135 __UNKNOWN__ 3'UTR SNP T T C rs3747519|rs386660748 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:46711135T>C ENST00000318962.4 - 0 4284 NM_147129.3 NP_667340.2 Q60I27 AL2CL_HUMAN ALS2 C-terminal like NA NA endosome organization (GO:0007032)|protein localization (GO:0008104) cytoplasmic membrane-bounded vesicle (GO:0016023) GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2) 29 BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202) CACAGGCTCCTGGCAGAACCA 0.577 NA T||| 1732 0.345847 0.2814 0.3357 5008 , , NA 21552 0.3264 NA 0.4573 False NA ,,, NA NA NA 2504 0.3456 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK074118 CCDS2743.1, CCDS43080.1 3p21.31 2008-01-30 ENSG00000178038 ENSG00000178038 259173 20605 protein-coding gene gene with protein product 612402 NA 15388334, 8889548, 17239822 Standard NM_147129 NM_147129 NA Approved FLJ36525, RN49018, DKFZp686I0110 uc003cqb.2 Q60I27 OTTHUMG00000128673 ENST00000318962.4:c.*1339A>G chr3.hg19:g.46711135T>C NA Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7 hg19 CCDS2743.1 0.02 4.755409 TCCxGGC COVERED NOVEL ALS2CL-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250567.3 1 5.416547 KEEP 0 0 0 18 566 TT 0.999859 0.999859 0 - 12 60 424 0 0 30.388239 127 60 4645 181 ENST00000318962.4 0.086331 1 ALS2CL 259173 __UNKNOWN__ __UNKNOWN__ 3 46711300 46711300 __UNKNOWN__ 3'UTR SNP C C T rs3747520 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:46711300C>T ENST00000318962.4 - 0 4119 NM_147129.3 NP_667340.2 Q60I27 AL2CL_HUMAN ALS2 C-terminal like NA NA endosome organization (GO:0007032)|protein localization (GO:0008104) cytoplasmic membrane-bounded vesicle (GO:0016023) GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2) 29 BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202) TGCCCTCTGCCCCAAGGCTAC 0.627 NA C||| 195 0.0389377 0.003 0.0303 5008 , , NA 19392 0.0099 NA 0.0636 False NA ,,, NA NA NA 2504 0.0982 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK074118 CCDS2743.1, CCDS43080.1 3p21.31 2008-01-30 ENSG00000178038 ENSG00000178038 259173 20605 protein-coding gene gene with protein product 612402 NA 15388334, 8889548, 17239822 Standard NM_147129 NM_147129 NA Approved FLJ36525, RN49018, DKFZp686I0110 uc003cqb.2 Q60I27 OTTHUMG00000128673 ENST00000318962.4:c.*1174G>A chr3.hg19:g.46711300C>T NA Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7 hg19 CCDS2743.1 0.02 11.631979 TGCxCCA COVERED NOVEL ALS2CL-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250567.3 0 10.835057 KEEP 0 0 0 36 1262 CC 0.999999 0.999999 0 - 10 60 385 0 0 24.820248 253 60 9162 364 ENST00000318962.4 0.038023 1 ALS2CL 259173 __UNKNOWN__ __UNKNOWN__ 3 46713351 46713351 __UNKNOWN__ Intron SNP C C A rs79199647 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:46713351C>A ENST00000318962.4 - 24 2768 ALS2CL_ENST00000415953.1_Intron|ALS2CL_ENST00000383742.3_Intron NM_147129.3 NP_667340.2 Q60I27 AL2CL_HUMAN ALS2 C-terminal like NA NA endosome organization (GO:0007032)|protein localization (GO:0008104) cytoplasmic membrane-bounded vesicle (GO:0016023) GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2) 29 BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202) CTGCCCTGCACCCCCAGCTCC 0.607 NA C||| 199 0.0397364 0.003 0.0303 5008 , , NA 18538 0.0099 NA 0.0636 False NA ,,, NA NA NA 2504 0.1022 NA NA NA NA 0 C ,, 50,4356 46.0+/-80.4 1,48,2154 52 44 46 ,, -1.6 0 3 dbSNP_132 46 501,8099 132.6+/-190.3 15,471,3814 no intron,intron,intron ALS2CL NM_001190707.1,NM_147129.3,NM_182775.2 ,, 16,519,5968 AA,AC,CC 5.8256,1.1348,4.2365 ,, ,, 46713351 551,12455 2203 4300 6503 SO:0001627 intron_variant AK074118 CCDS2743.1, CCDS43080.1 3p21.31 2008-01-30 ENSG00000178038 ENSG00000178038 259173 20605 protein-coding gene gene with protein product 612402 NA 15388334, 8889548, 17239822 Standard NM_147129 NM_147129 NA Approved FLJ36525, RN49018, DKFZp686I0110 uc003cqb.2 Q60I27 OTTHUMG00000128673 ENST00000318962.4:c.2684+22G>T chr3.hg19:g.46713351C>A NA Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7 hg19 CCDS2743.1 0.02 9.270604 GCAxCCC COVERED NOVEL ALS2CL-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250567.3 3 15.951559 KEEP 0 0 0 53 1882 CC 1 1 0 - 11 60 349 0 0 20.060484 271 60 9965 389 ENST00000318962.4 0.039007 1 ALS2CL 259173 __UNKNOWN__ __UNKNOWN__ 3 46727909 46727909 __UNKNOWN__ Silent SNP C C A rs34935085 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:46727909C>A ENST00000318962.4 - 6 638 c.555G>T c.(553-555)ctG>ctT p.L185L ALS2CL_ENST00000415953.1_Silent_p.L185L NM_147129.3 NP_667340.2 Q60I27 AL2CL_HUMAN ALS2 C-terminal like 185 NA endosome organization (GO:0007032)|protein localization (GO:0008104) cytoplasmic membrane-bounded vesicle (GO:0016023) GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2) 29 BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202) CGTTCACCACCAGCTCCCGGG 0.617 NA C||| 229 0.0457268 0.0045 0.0331 5008 , , NA 18943 0.0139 NA 0.0666 False NA ,,, NA NA NA 2504 0.1217 NA NA NA NA 0 C , 50,4356 50.2+/-85.5 1,48,2154 59 57 58 555,555 4 1 3 dbSNP_126 58 520,8080 146.3+/-201.9 16,488,3796 no coding-synonymous,coding-synonymous ALS2CL NM_001190707.1,NM_147129.3 , 17,536,5950 AA,AC,CC 6.0465,1.1348,4.3826 , 185/954,185/954 46727909 570,12436 2203 4300 6503 SO:0001819 synonymous_variant AK074118 CCDS2743.1, CCDS43080.1 3p21.31 2008-01-30 ENSG00000178038 ENSG00000178038 259173 20605 protein-coding gene gene with protein product 612402 NA 15388334, 8889548, 17239822 Standard NM_147129 NM_147129 NA Approved FLJ36525, RN49018, DKFZp686I0110 uc003cqb.2 Q60I27 OTTHUMG00000128673 ENST00000318962.4:c.555G>T chr3.hg19:g.46727909C>A NA Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7 hg19 CCDS2743.1 0.02 4.183273 CACxAGC COVERED NOVEL ALS2CL-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250567.3 1 10.232418 KEEP 0 0 0 34 1171 CC 0.999998 0.999998 0 - 7 60 255 0 0 16.88981 128 60 4875 224 ENST00000318962.4 0.051852 1 ALS2CL 259173 __UNKNOWN__ __UNKNOWN__ 3 46729289 46729289 __UNKNOWN__ Intron SNP A A G rs78350137 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:46729289A>G ENST00000318962.4 - 4 386 ALS2CL_ENST00000415953.1_Intron NM_147129.3 NP_667340.2 Q60I27 AL2CL_HUMAN ALS2 C-terminal like NA NA endosome organization (GO:0007032)|protein localization (GO:0008104) cytoplasmic membrane-bounded vesicle (GO:0016023) GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2) 29 BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202) CTGAGGGCCCACACAGTGGCC 0.617 NA A||| 229 0.0457268 0.0045 0.0331 5008 , , NA 19712 0.0139 NA 0.0666 False NA ,,, NA NA NA 2504 0.1217 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK074118 CCDS2743.1, CCDS43080.1 3p21.31 2008-01-30 ENSG00000178038 ENSG00000178038 259173 20605 protein-coding gene gene with protein product 612402 NA 15388334, 8889548, 17239822 Standard NM_147129 NM_147129 NA Approved FLJ36525, RN49018, DKFZp686I0110 uc003cqb.2 Q60I27 OTTHUMG00000128673 ENST00000318962.4:c.303-115T>C chr3.hg19:g.46729289A>G NA Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7 hg19 CCDS2743.1 0.02 4.284427 CCCxCAC COVERED NOVEL ALS2CL-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250567.3 1 3.309159 KEEP 0 0 0 11 321 AA 0.993072 0.993068 0 - 5 60 179 0 0 11.398016 108 60 3777 127 ENST00000318962.4 0.044248 0.999995 TMIE 259236 __UNKNOWN__ __UNKNOWN__ 3 46747255 46747255 __UNKNOWN__ Intron SNP C C T rs7635402 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:46747255C>T ENST00000326431.3 + 2 248 NM_147196.2 NP_671729.2 Q8NEW7 TMIE_HUMAN transmembrane inner ear NA NA inner ear morphogenesis (GO:0042472)|sensory perception of sound (GO:0007605) integral component of membrane (GO:0016021) endometrium(1)|lung(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.000688)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208) CTGCCTAACTCACTCCCCTCT 0.597 NA OREG0015540 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) C||| 576 0.115016 0.1286 0.1268 5008 , , NA 17509 0.1538 NA 0.0487 False NA ,,, NA NA NA 2504 0.1166 NA NA NA NA 0 C 479,3649 26,427,1611 54 63 60 2.7 0.4 3 dbSNP_116 60 347,8075 9,329,3873 no intron TMIE NM_147196.2 35,756,5484 TT,TC,CC 4.1202,11.6037,6.5817 46747255 826,11724 2064 4211 6275 SO:0001627 intron_variant AY081842 CCDS43081.1 3p21 2010-01-06 2004-05-19 ENSG00000181585 ENSG00000181585 259236 30800 protein-coding gene gene with protein product 607237 deafness, autosomal recessive 6 DFNB6 NA 12140191, 12145746 Standard NM_147196 NM_147196 NA Approved uc010hjk.1 Q8NEW7 OTTHUMG00000149909 ENST00000326431.3:c.94-25C>T chr3.hg19:g.46747255C>T 941 A0AV93|A8K0R0 hg19 CCDS43081.1 0.02 2.269985 ACTxACT COVERED NOVEL TMIE-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000313853.1 0 3.61092 KEEP 0 0 0 12 398 CC 0.993634 0.979875 0 + 6 60 214 0 0 15.840761 53 60 1955 75 ENST00000326431.3 0.101695 0.986153 PRSS46 100287362 __UNKNOWN__ __UNKNOWN__ 3 46775322 46775322 __UNKNOWN__ Silent SNP A A G rs12489661 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:46775322A>G ENST00000463091.2 - 3 364 c.324T>C c.(322-324)acT>acC p.T108T PRSS50_ENST00000460241.1_Intron NM_001205271.1 NP_001192200.1 E5RG02 PRS46_HUMAN protease, serine, 46 108 Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}. NA serine-type endopeptidase activity (GO:0004252) NA GCGGGAGCTGAGTGCTATTTT 0.552 NA A||| 1003 0.20028 0.2496 0.1931 5008 , , NA 20148 0.1528 NA 0.1441 False NA ,,, NA NA NA 2504 0.2454 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001819 synonymous_variant CCDS54576.1 3p21.31 2012-04-18 ENSG00000261603 ENSG00000261603 100287362 Serine peptidases / Serine peptidases 37325 protein-coding gene gene with protein product NA Standard XM_002342331 NM_001205271 NA Approved TESSP6 uc021wxf.1 E5RG02 OTTHUMG00000177121 ENST00000463091.2:c.324T>C chr3.hg19:g.46775322A>G NA hg19 CCDS54576.1 0.02 5.088721 CTGxGTG COVERED NOVEL PRSS46-003 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000344502.7 0 3.009272 KEEP 0 0 0 10 320 AA 0.992708 0.992676 0 - 5 60 205 0 0 14.265649 95 60 3551 135 ENST00000463091.2 0.05 0.999968 PRSS46 100287362 __UNKNOWN__ __UNKNOWN__ 3 46775608 46775608 __UNKNOWN__ Silent SNP A A G rs68175547 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:46775608A>G ENST00000463091.2 - 2 247 c.207T>C c.(205-207)agT>agC p.S69S PRSS50_ENST00000460241.1_Intron NM_001205271.1 NP_001192200.1 E5RG02 PRS46_HUMAN protease, serine, 46 69 Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}. NA serine-type endopeptidase activity (GO:0004252) NA TGAGGGAGCCACTGCAGATGT 0.617 NA G||| 1287 0.256989 0.4576 0.2075 5008 , , NA 18793 0.1528 NA 0.1431 False NA ,,, NA NA NA 2504 0.2454 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001819 synonymous_variant CCDS54576.1 3p21.31 2012-04-18 ENSG00000261603 ENSG00000261603 100287362 Serine peptidases / Serine peptidases 37325 protein-coding gene gene with protein product NA Standard XM_002342331 NM_001205271 NA Approved TESSP6 uc021wxf.1 E5RG02 OTTHUMG00000177121 ENST00000463091.2:c.207T>C chr3.hg19:g.46775608A>G NA hg19 CCDS54576.1 0.02 1.666223 GCCxCTG COVERED NOVEL PRSS46-003 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000344502.7 1 3.911933 KEEP 0 0 0 13 414 AA 0.994391 0.99157 0 - 4 60 129 0 0 8.130179 67 60 2398 98 ENST00000463091.2 0.056338 0.997163 PRSS46 100287362 __UNKNOWN__ __UNKNOWN__ 3 46777881 46777881 __UNKNOWN__ 5'UTR SNP C C G rs6793535 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:46777881C>G ENST00000463091.2 - 0 38 PRSS50_ENST00000460241.1_Intron NM_001205271.1 NP_001192200.1 E5RG02 PRS46_HUMAN protease, serine, 46 NA NA serine-type endopeptidase activity (GO:0004252) NA CAGGCCATGGCAAGTGGGTAT 0.517 NA C||| 1264 0.252396 0.4554 0.2118 5008 , , NA 21393 0.123 NA 0.1471 False NA ,,, NA NA NA 2504 0.2485 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant CCDS54576.1 3p21.31 2012-04-18 ENSG00000261603 ENSG00000261603 100287362 Serine peptidases / Serine peptidases 37325 protein-coding gene gene with protein product NA Standard XM_002342331 NM_001205271 NA Approved TESSP6 uc021wxf.1 E5RG02 OTTHUMG00000177121 ENST00000463091.2:c.-3G>C chr3.hg19:g.46777881C>G NA hg19 CCDS54576.1 0.02 24.824989 TGGxAAG COVERED NOVEL PRSS46-003 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000344502.7 1 15.951963 KEEP 0 0 0 53 1897 CC 1 1 0 - 23 60 890 0 0 58.880493 507 60 19483 728 ENST00000463091.2 0.043396 1 PRSS46 100287362 __UNKNOWN__ __UNKNOWN__ 3 46777885 46777885 __UNKNOWN__ 5'UTR SNP T T C rs6808303 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:46777885T>C ENST00000463091.2 - 0 34 PRSS50_ENST00000460241.1_Intron NM_001205271.1 NP_001192200.1 E5RG02 PRS46_HUMAN protease, serine, 46 NA NA serine-type endopeptidase activity (GO:0004252) NA CCATGGCAAGTGGGTATCTAC 0.507 NA C||| 1264 0.252396 0.4554 0.2118 5008 , , NA 21371 0.123 NA 0.1471 False NA ,,, NA NA NA 2504 0.2485 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant CCDS54576.1 3p21.31 2012-04-18 ENSG00000261603 ENSG00000261603 100287362 Serine peptidases / Serine peptidases 37325 protein-coding gene gene with protein product NA Standard XM_002342331 NM_001205271 NA Approved TESSP6 uc021wxf.1 E5RG02 OTTHUMG00000177121 ENST00000463091.2:c.-7A>G chr3.hg19:g.46777885T>C NA hg19 CCDS54576.1 0.02 24.851039 AAGxGGG COVERED NOVEL PRSS46-003 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000344502.7 1 14.442937 KEEP 0 0 0 48 1513 TT 1 1 0 - 24 60 914 0 0 60.485326 503 60 17847 725 ENST00000463091.2 0.045541 1 PRSS50 29122 __UNKNOWN__ __UNKNOWN__ 3 46778008 46778008 __UNKNOWN__ Intron SNP C C T rs6793661 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:46778008C>T ENST00000460241.1 - 4 1129 Q9UI38 TSP50_HUMAN protease, serine, 50 NA NA proteolysis (GO:0006508) cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783) serine-type endopeptidase activity (GO:0004252)|threonine-type endopeptidase activity (GO:0004298) endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 11 AGTAGGCATCCGCCCCAAGGT 0.572 NA T||| 1259 0.251398 0.4546 0.2104 5008 , , NA 21775 0.121 NA 0.1461 False NA ,,, NA NA NA 2504 0.2485 NA NA NA Pancreas(41;915 1239 11561 17469) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF100707 CCDS2745.1 3p21.31 2011-05-24 ENSG00000206549 ENSG00000206549 29122 Serine peptidases / Serine peptidases 17910 protein-coding gene gene with protein product cancer/testis antigen 20, testes specific protease 50 607950 NA 10397268 Standard NM_013270 NA Approved TSP50, CT20 uc003cqe.1 Q9UI38 OTTHUMG00000164067 ENST00000460241.1:c.541+12106G>A chr3.hg19:g.46778008C>T NA hg19 CCDS2745.1 0.02 10.681598 ATCxGCC COVERED NOVEL PRSS50-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000354544.1 0 4.212834 KEEP 0 0 0 14 450 CC 0.995343 0.995343 0 - 12 60 436 0 0 28.058519 256 60 8445 313 ENST00000460241.1 0.044776 1 NBEAL2 23218 __UNKNOWN__ __UNKNOWN__ 3 47040707 47040707 __UNKNOWN__ Intron SNP C C T rs74515346 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:47040707C>T ENST00000450053.3 + 25 3722 NBEAL2_ENST00000292309.5_Intron|NBEAL2_ENST00000383740.2_Intron NM_015175.2 NP_055990.1 Q6ZNJ1 NBEL2_HUMAN neurobeachin-like 2 NA NA blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220) endoplasmic reticulum (GO:0005783)|membrane (GO:0016020) NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 Acute lymphoblastic leukemia(5;0.0534) BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656) GATGAAGCTGCCTTCAAGGGC 0.622 NA C||| 276 0.0551118 0.0008 0.0504 5008 , , NA 17085 0.2331 NA 0.0 False NA ,,, NA NA NA 2504 0.0051 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB011112 CCDS46817.1 3p21.31 2014-09-17 ENSG00000160796 ENSG00000160796 23218 WD repeat domain containing 31928 protein-coding gene gene with protein product 614169 NA Standard XM_291064 NM_015175 NA Approved KIAA0540 uc003cqp.3 Q6ZNJ1 OTTHUMG00000156497 ENST00000450053.3:c.3544-98C>T chr3.hg19:g.47040707C>T NA O60288|Q6P994|Q6UX91|Q8NAC9 hg19 CCDS46817.1 0.02 5.997284 CTGxCTT COVERED NOVEL NBEAL2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000344363.3 2 5.250841 KEEP 0 1 27 27 956 CC 0.999997 0.999997 0 + 8 60 276 0 0 17.722651 148 60 5517 205 ENST00000450053.3 0.051282 1 KIF9 64147 __UNKNOWN__ __UNKNOWN__ 3 47322781 47322781 __UNKNOWN__ Intron SNP G G A rs1076394 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:47322781G>A ENST00000265529.3 - 2 676 KIF9_ENST00000452770.2_Intron|KIF9_ENST00000444589.2_Intron|KIF9_ENST00000432493.1_Intron|KIF9_ENST00000335044.2_Intron|KIF9_ENST00000425853.1_Intron|KIF9_ENST00000487440.1_Intron|KIF9_ENST00000352910.4_Intron|KIF9_ENST00000425452.1_Intron Q9HAQ2 KIF9_HUMAN kinesin family member 9 NA NA ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|extracellular matrix disassembly (GO:0022617)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle disassembly (GO:1903008)|regulation of podosome assembly (GO:0071801) cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|podosome (GO:0002102)|vesicle (GO:0031982) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein dimerization activity (GO:0046983) central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2) 34 Acute lymphoblastic leukemia(5;0.164) BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) TGGTTTCCAGGTGCAAAAATC 0.458 NA G||| 1810 0.361422 0.2057 0.4207 5008 , , NA 22366 0.4514 NA 0.3986 False NA ,,, NA NA NA 2504 0.3988 NA NA NA Colon(44;962 1147 15977 24541) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF311212 CCDS2751.1, CCDS2752.1 3p21.31 2008-03-03 ENSG00000088727 ENSG00000088727 64147 Kinesins 16666 protein-coding gene gene with protein product 607910 NA 11483511 Standard NM_022342 NA Approved MGC104186 uc003cqx.3 Q9HAQ2 OTTHUMG00000133512 ENST00000265529.3:c.4+1203C>T chr3.hg19:g.47322781G>A NA Q86Z28|Q9H8A4 hg19 CCDS2752.1 0.02 4.214681 CAGxTGC COVERED NOVEL KIF9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257475.2 1 4.514679 KEEP 0 0 0 15 525 GG 0.99649 0.996489 0 - 7 60 252 0 0 16.931483 114 60 4158 139 ENST00000265529.3 0.057851 0.999999 KLHL18 23276 __UNKNOWN__ __UNKNOWN__ 3 47361082 47361082 __UNKNOWN__ Intron SNP G G T rs369714691|rs2302278|rs564729073 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:47361082G>T ENST00000232766.5 + 2 149 KLHL18_ENST00000455924.2_Intron NM_025010.4 NP_079286.2 O94889 KLH18_HUMAN kelch-like family member 18 NA NA endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 21 Acute lymphoblastic leukemia(5;0.164) BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741) GGGTTTTTTTGTTTGTTTGTT 0.512 NA T||| 2309 0.461062 0.5779 0.4553 5008 , , NA 14791 0.4435 NA 0.3966 False NA ,,, NA NA NA 2504 0.3916 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB018338 CCDS33749.1 3p21 2013-01-30 2013-01-30 ENSG00000114648 ENSG00000114648 23276 Kelch-like, BTB/POZ domain containing 29120 protein-coding gene gene with protein product kelch-like 18 (Drosophila) NA 9872452 Standard NM_025010 NM_025010 NA Approved KIAA0795, FLJ13703 uc003crd.3 O94889 OTTHUMG00000156522 ENST00000232766.5:c.130-61G>T chr3.hg19:g.47361082G>T NA A8K612|Q7Z3E8|Q8N125 hg19 CCDS33749.1 0.02 3.813025 TTTxTTT COVERED NOVEL KLHL18-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000344493.1 1 5.0508 KEEP 0 1 32 28 954 GG 0.999997 0.999997 0 + 10 60 358 0 0 24.803523 134 60 4965 188 ENST00000232766.5 0.069444 1 PTPN23 25930 __UNKNOWN__ __UNKNOWN__ 3 47422803 47422803 __UNKNOWN__ Intron SNP G G T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:47422803G>T ENST00000265562.4 + 1 161 PTPN23_ENST00000431726.1_Intron NM_015466.2 NP_056281.1 Q9H3S7 PTN23_HUMAN protein tyrosine phosphatase, non-receptor type 23 NA NA cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162) ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725) breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 23 BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) AGGGGCCTTCGCCGGTTTTCC 0.687 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB025194 CCDS2754.1 3p21.3 2011-06-09 ENSG00000076201 ENSG00000076201 25930 Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor 14406 protein-coding gene gene with protein product 606584 NA 11095967 Standard NM_015466 NM_015466 NA Approved DKFZP564F0923, KIAA1471, HD-PTP uc003crf.1 Q9H3S7 OTTHUMG00000133520 ENST00000265562.4:c.84+133G>T chr3.hg19:g.47422803G>T NA A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4 hg19 CCDS2754.1 0.02 5.341673 TTCxCCG COVERED NOVEL PTPN23-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257492.2 3 23.753459 KEEP 0 16 154 138 3662 GG 1 1 0 + 41 60 523 0 0 26.229439 199 60 4347 457 ENST00000265562.4 0.170833 1 SMARCC1 6599 __UNKNOWN__ __UNKNOWN__ 3 47722020 47722020 __UNKNOWN__ Intron SNP G G A rs202086920 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:47722020G>A ENST00000254480.5 - 15 1505 SMARCC1_ENST00000425518.1_Intron NM_003074.3 NP_003065.3 Q92922 SMRC1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 NA NA ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351) nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741) chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713) breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) AAGAAAAAAAGATTTAGGAGT 0.433 NA NA NA NA NA NA NA NA NA NA NA 0 40 41 40 NA NA 3 NA 47722020 2203 4300 6503 SO:0001627 intron_variant U66615 CCDS2758.1 3p21.31 2008-05-15 ENSG00000173473 ENSG00000173473 6599 11104 protein-coding gene gene with protein product 601732 NA 8804307 Standard NM_003074 NA Approved BAF155, SRG3, Rsc8, CRACC1 uc003crq.2 Q92922 OTTHUMG00000133519 ENST00000254480.5:c.1386-22C>T chr3.hg19:g.47722020G>A NA Q17RS0|Q6P172|Q8IWH2 hg19 CCDS2758.1 0.02 0.736524 AAAxATT COVERED NOVEL SMARCC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257491.1 1 4.077909 KEEP 1 1 9 17 558 GG 0.999366 0.999322 0 - 14 70 176 0 0 7.609153 80 60 2669 130 ENST00000254480.5 0.148936 0.999956 MAP4 4134 __UNKNOWN__ __UNKNOWN__ 3 47956525 47956525 __UNKNOWN__ Intron SNP G G A rs77997271 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:47956525G>A ENST00000426837.2 - 9 2015 MAP4_ENST00000383737.4_Intron|MAP4_ENST00000360240.6_Intron|MAP4_ENST00000395734.3_Intron P27816 MAP4_HUMAN microtubule-associated protein 4 NA NA cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886) poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198) breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2) 32 BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736) Docetaxel(DB01248)|Paclitaxel(DB01229) AGTttctgaggagttctccta 0.383 NA G||| 60 0.0119808 0.0008 0.0 5008 , , NA 21073 0.0565 NA 0.001 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS33750.1, CCDS46818.1, CCDS46821.1 3p21 2008-07-18 ENSG00000047849 ENSG00000047849 4134 6862 protein-coding gene gene with protein product 157132 NA 1905296 Standard NM_002375 NM_002375 NA Approved uc003csb.2 P27816 OTTHUMG00000156828 ENST00000426837.2:c.1928-96C>T chr3.hg19:g.47956525G>A NA Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9 hg19 0.02 9.968188 GAGxAGT COVERED NOVEL MAP4-005 PUTATIVE basic|appris_candidate_longest|exp_conf protein_coding NA protein_coding OTTHUMT00000346089.2 2 10.226226 KEEP 0 0 0 34 1132 GG 0.999998 0.999998 0 - 9 60 318 0 0 18.798565 273 60 10151 360 ENST00000426837.2 0.031915 1 ZNF589 51385 __UNKNOWN__ __UNKNOWN__ 3 48310701 48310701 __UNKNOWN__ Intron SNP A A G rs566858926 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:48310701A>G ENST00000427617.2 + 3 295 ZNF589_ENST00000412564.1_Intron|ZNF589_ENST00000440261.2_Intron|ZNF589_ENST00000354698.3_3'UTR Q86UQ0 ZN589_HUMAN zinc finger protein 589 NA NA regulation of transcription, DNA-templated (GO:0006355) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) large_intestine(1)|lung(1)|ovary(1)|skin(1) 4 BRCA - Breast invasive adenocarcinoma(193;0.000649)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GAGTGTGGGCAAGGCTTTATC 0.507 NA A||| 1 0.000199681 0.0 0.0 5008 , , NA 22579 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA Colon(9;319 328 25374 27611 50948) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF114816 CCDS43085.1 3p21 2013-01-08 ENSG00000164048 ENSG00000164048 51385 Zinc fingers, C2H2-type, - 16747 protein-coding gene gene with protein product NA 10029171 Standard NM_016089 NM_016089 NA Approved SZF1 uc003csl.4 Q86UQ0 OTTHUMG00000156833 ENST00000427617.2:c.223+8272A>G chr3.hg19:g.48310701A>G NA Q86UC9|Q9BRI6|Q9BRY3|Q9Y611|Q9Y612 hg19 0.02 13.405121 GGCxAGG COVERED NOVEL ZNF589-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000346127.2 5 21.06175 KEEP 0 0 0 70 2178 AA 1 1 0 + 17 60 605 0 0 39.484061 316 60 11474 482 ENST00000427617.2 0.051051 1 NCKIPSD 51517 __UNKNOWN__ __UNKNOWN__ 3 48716993 48716993 __UNKNOWN__ Intron SNP G G A rs3816836 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:48716993G>A ENST00000294129.2 - 8 1609 NCKIPSD_ENST00000416649.2_Intron|NCKIPSD_ENST00000341520.4_Intron NM_016453.2 NP_057537.1 Q9NZQ3 SPN90_HUMAN NCK interacting protein with SH3 domain NA NA cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|NLS-bearing protein import into nucleus (GO:0006607)|signal transduction (GO:0007165) cytosol (GO:0005829)|intermediate filament (GO:0005882)|nucleus (GO:0005634) cytoskeletal protein binding (GO:0008092) endometrium(1)|large_intestine(3)|lung(6)|prostate(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) CTCCTACCCCGCCCTCCAGCC 0.617 NA G||| 733 0.146366 0.0008 0.3141 5008 , , NA 19541 0.494 NA 0.004 False NA ,,, NA NA NA 2504 0.0123 NA NA NA NA 0 G , 39,4367 41.6+/-74.8 0,39,2164 109 98 102 , -4.3 0 3 dbSNP_107 102 43,8557 25.7+/-73.6 0,43,4257 no intron,intron NCKIPSD NM_016453.2,NM_184231.1 , 0,82,6421 AA,AG,GG 0.5,0.8852,0.6305 , , 48716993 82,12924 2203 4300 6503 SO:0001627 intron_variant AF178432 CCDS2776.1, CCDS46827.1 3p21 2008-07-18 ENSG00000213672 ENSG00000213672 51517 15486 protein-coding gene gene with protein product dia interacting protein, diaphanous protein interacting protein, SH3 protein interacting with Nck, 90 kDa 606671 NA 10648423, 10619843 Standard NM_016453 NM_016453 NA Approved AF3P21, SPIN90, ORF1, WISH, WASLBP, DIP1 uc003cun.3 Q9NZQ3 OTTHUMG00000133542 ENST00000294129.2:c.1489+14C>T chr3.hg19:g.48716993G>A NA B4DFL5|Q6GU34|Q6SPF3|Q8TC10|Q9UGM8 hg19 CCDS2776.1 0.02 14.793791 CCCxCCC COVERED NOVEL NCKIPSD-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000257520.1 2 22.269995 KEEP 0 0 0 74 2558 GG 1 1 0 - 37 60 1214 0 0 86.487067 342 60 11688 555 ENST00000294129.2 0.097625 1 IP6K2 51447 __UNKNOWN__ __UNKNOWN__ 3 48731961 48731961 __UNKNOWN__ Intron SNP A A G rs72929172 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:48731961A>G ENST00000328631.5 - 2 426 IP6K2_ENST00000431721.2_3'UTR|IP6K2_ENST00000449610.1_3'UTR|IP6K2_ENST00000450045.1_Intron|IP6K2_ENST00000340879.4_Intron|IP6K2_ENST00000413298.1_Intron|IP6K2_ENST00000446860.1_3'UTR|IP6K2_ENST00000417896.1_3'UTR|IP6K2_ENST00000432678.2_Intron NM_001005909.2|NM_016291.3 NP_001005909.1|NP_057375.2 Q9UHH9 IP6K2_HUMAN inositol hexakisphosphate kinase 2 NA NA cytokine-mediated signaling pathway (GO:0019221)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell growth (GO:0030308)|phosphate ion transport (GO:0006817)|phosphatidylinositol phosphorylation (GO:0046854)|positive regulation of apoptotic process (GO:0043065)|small molecule metabolic process (GO:0044281)|type I interferon signaling pathway (GO:0060337) intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440) biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1) 15 GATGTCCCCtataaaatacat 0.353 NA A||| 1542 0.307907 0.0976 0.3991 5008 , , NA 15808 0.7202 NA 0.0646 False NA ,,, NA NA NA 2504 0.3528 NA NA NA NA 0 A ,,,,,,, 137,1247 7,123,562 22 20 20 ,,,,,,, 1.1 0 3 dbSNP_130 20 192,2990 8,176,1407 no intron,intron,intron,intron,intron,utr-3,utr-3,intron IP6K2 NM_001005909.2,NM_001005910.2,NM_001005911.2,NM_001146178.2,NM_001146179.2,NM_001190316.1,NM_001190317.1,NM_016291.3 ,,,,,,, 15,299,1969 GG,GA,AA 6.0339,9.8988,7.2054 ,,,,,,, ,,,,,,, 48731961 329,4237 692 1591 2283 SO:0001627 intron_variant AF177145 CCDS2777.1, CCDS33752.1, CCDS54579.1, CCDS54580.1, CCDS54581.1 3p21.31 2009-01-05 2009-01-05 2008-12-22 ENSG00000068745 ENSG00000068745 51447 17313 protein-coding gene gene with protein product 606992 inositol hexaphosphate kinase 2 IHPK2 NA 10574768 Standard NM_016291 NM_016291 NA Approved uc003cup.3 Q9UHH9 OTTHUMG00000133543 ENST00000328631.5:c.202+561T>C chr3.hg19:g.48731961A>G NA A8K3B1|B4E3G6|G8JLL6|Q6P0N8|Q9BSZ6|Q9BUW3|Q9H4P7|Q9NT63|Q9UFU6 hg19 CCDS2777.1 0.02 29.619332 CCTxTAA COVERED NOVEL IP6K2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257521.2 2 90.259774 KEEP 0 0 0 300 9124 AA 1 1 0 - 56 60 2104 0 0 155.557052 562 60 20642 1171 ENST00000328631.5 0.090615 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 49061740 49061740 __UNKNOWN__ IGR SNP T T C rs558780068 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:49061740T>C NA NA NDUFAF3 (812 upstream) : IMPDH2 (17 downstream) NA NA NA ACCTGTCTGTTGAAAGATCAG 0.473 NA T||| 1 0.000199681 0.0 0.0 5008 , , NA 17313 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 11 13 12 NA NA 3 NA 49061740 692 1591 2283 SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.49061740T>C NA hg19 0.02 14.814177 TGTxGAA COVERED NOVEL 0 3 54.156636 KEEP 0 0 0 180 5479 TT 1 1 0 23 60 793 0 0 53.012669 342 70 12347 695 0.063014 1 IMPDH2 3615 __UNKNOWN__ __UNKNOWN__ 3 49063518 49063518 __UNKNOWN__ Intron SNP C C G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:49063518C>G ENST00000326739.4 - 9 1046 NM_000884.2 NP_000875.2 IMP (inosine 5'-monophosphate) dehydrogenase 2 NA NA breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) AACAAACAGACCAGAGTTTAG 0.507 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS2786.1 3p21.2 2014-05-15 2010-04-29 ENSG00000178035 ENSG00000178035 3615 1.1.1.205 6053 protein-coding gene gene with protein product 146691 NA 9858805, 1969416 Standard XM_006713128 NA Approved uc003cvt.3 P12268 OTTHUMG00000156771 ENST00000326739.4:c.1006+238G>C chr3.hg19:g.49063518C>G NA hg19 CCDS2786.1 0.02 4.209481 AGAxCAG COVERED NOVEL IMPDH2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000345657.1 3 24.946893 KEEP 0 0 0 83 2929 CC 1 1 0 - 5 60 182 0 0 11.338077 128 60 4701 302 ENST00000326739.4 0.037594 1 LAMB2 3913 __UNKNOWN__ __UNKNOWN__ 3 49168914 49168914 __UNKNOWN__ Intron SNP C C T rs117284836 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:49168914C>T ENST00000418109.1 - 7 813 LAMB2_ENST00000305544.4_Intron NM_002292.3 NP_002283.3 P55268 LAMB2_HUMAN laminin, beta 2 (laminin S) NA NA astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601) basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202) structural molecule activity (GO:0005198) NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CTGGACCTTGCCTCAGGCCCA 0.587 NA c||| 17 0.00339457 0.0 0.0 5008 , , NA 18966 0.0169 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 0,4406 0,0,2203 139 137 138 -5 0 3 dbSNP_132 138 1,8599 1.2+/-3.3 0,1,4299 no intron LAMB2 NM_002292.3 0,1,6502 TT,TC,CC 0.0116,0.0,0.0077 49168914 1,13005 2203 4300 6503 SO:0001627 intron_variant CCDS2789.1 3p21.3-p21.2 2013-03-01 ENSG00000172037 ENSG00000172037 3913 Laminins 6487 protein-coding gene gene with protein product laminin S 150325 LAMS NA 2922051, 10393422 Standard NM_002292 NM_002292 NA Approved uc003cwe.3 P55268 OTTHUMG00000156807 ENST00000418109.1:c.649-39G>A chr3.hg19:g.49168914C>T NA Q16321 hg19 CCDS2789.1 0.02 8.631432 TTGxCTC COVERED NOVEL LAMB2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000345939.1 0 18.359237 KEEP 0 0 0 61 2141 CC 1 1 0 - 10 60 370 0 0 24.13351 209 60 7638 335 ENST00000418109.1 0.045662 1 BSN 8927 __UNKNOWN__ __UNKNOWN__ 3 49694756 49694756 __UNKNOWN__ Silent SNP T T C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:49694756T>C ENST00000296452.4 + 5 7881 c.7767T>C c.(7765-7767)gaT>gaC p.D2589D NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 2589 NA synaptic transmission (GO:0007268) axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788) metal ion binding (GO:0046872) breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) AGACAGACGATGAGGATGGGG 0.642 NA NA NA NA NA NA NA NA NA NA NA 0 47 51 50 NA NA 3 NA 49694756 2203 4300 6503 SO:0001819 synonymous_variant AF052224 CCDS2800.1 3p21 2013-01-07 2013-01-07 ENSG00000164061 ENSG00000164061 8927 1117 protein-coding gene gene with protein product zinc finger protein 231, neuronal double zinc finger protein 604020 bassoon (presynaptic cytomatrix protein) ZNF231 NA 9806829, 10329005 Standard NM_003458 NM_003458 NA Approved uc003cxe.4 Q9UPA5 OTTHUMG00000133750 ENST00000296452.4:c.7767T>C chr3.hg19:g.49694756T>C NA O43161|Q7LGH3 hg19 CCDS2800.1 0.02 18.388578 CGAxGAG COVERED NOVEL BSN-001 KNOWN NMD_exception|basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000258164.1 2 25.862614 KEEP 0 0 0 86 2600 TT 1 1 0 + 20 60 698 0 0 44.634372 392 60 14106 608 ENST00000296452.4 0.048544 1 MST1 4485 __UNKNOWN__ __UNKNOWN__ 3 49726406 49726406 __UNKNOWN__ 5'UTR SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:49726406C>T ENST00000449682.2 - 0 80 NM_020998.3 NP_066278.3 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth factor-like) NA NA embryo implantation (GO:0007566)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283) extracellular vesicular exosome (GO:0070062) serine-type endopeptidase activity (GO:0004252) NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) GAGGTCTGGGCTCCAGCccct 0.547 NA NA NA NA NA NA NA NA NA NA GBM(110;181 1524 8005 22865 46297) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant M74178 CCDS33757.2 3p21 2008-09-05 ENSG00000173531 ENSG00000173531 4485 7380 protein-coding gene gene with protein product hepatocyte growth factor-like protein homolog 142408 D3F15S2, HGFL, DNF15S2 NA 2902784, 8393443 Standard NM_020998 NM_020998 NA Approved MSP, NF15S2 uc003cxg.3 P26927 OTTHUMG00000155918 ENST00000449682.2:c.-282G>A chr3.hg19:g.49726406C>T NA A6NLA3|A8MSX3|Q13350|Q14870|Q6GTN4 hg19 CCDS33757.2 0.02 10.911536 GGGxTCC COVERED NOVEL MST1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000342315.3 3 8.038978 KEEP 1 6 198 96 3483 CC 1 1 0 - 10 27 370 0 0 23.474317 244 60 9251 461 ENST00000449682.2 0.03937 1 MST1 4485 __UNKNOWN__ __UNKNOWN__ 3 49726419 49726419 __UNKNOWN__ 5'UTR SNP G G C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:49726419G>C ENST00000449682.2 - 0 67 NM_020998.3 NP_066278.3 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth factor-like) NA NA embryo implantation (GO:0007566)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283) extracellular vesicular exosome (GO:0070062) serine-type endopeptidase activity (GO:0004252) NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) CAGCccctgggtgacattaaa 0.542 NA NA NA NA NA NA NA NA NA NA GBM(110;181 1524 8005 22865 46297) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant M74178 CCDS33757.2 3p21 2008-09-05 ENSG00000173531 ENSG00000173531 4485 7380 protein-coding gene gene with protein product hepatocyte growth factor-like protein homolog 142408 D3F15S2, HGFL, DNF15S2 NA 2902784, 8393443 Standard NM_020998 NM_020998 NA Approved MSP, NF15S2 uc003cxg.3 P26927 OTTHUMG00000155918 ENST00000449682.2:c.-295C>G chr3.hg19:g.49726419G>C NA A6NLA3|A8MSX3|Q13350|Q14870|Q6GTN4 hg19 CCDS33757.2 0.02 8.493052 TGGxTGA COVERED NOVEL MST1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000342315.3 2 9.609462 KEEP 1 5 169 91 3250 GG 1 1 0 - 9 27 337 0 0 21.233788 237 60 8832 426 ENST00000449682.2 0.036585 1 RNF123 63891 __UNKNOWN__ __UNKNOWN__ 3 49736565 49736565 __UNKNOWN__ Intron SNP G G A rs6785549 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:49736565G>A ENST00000327697.6 + 10 908 RNF123_ENST00000432042.1_Intron NM_022064.3 NP_071347.2 Q5XPI4 RN123_HUMAN ring finger protein 123 NA NA protein ubiquitination (GO:0016567) cytoplasm (GO:0005737) ligase activity (GO:0016874)|zinc ion binding (GO:0008270) NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255) ATGGCTGTGGGCTGCTCAGAA 0.607 NA G||| 2928 0.584665 0.3684 0.6455 5008 , , NA 17143 0.8323 NA 0.5249 False NA ,,, NA NA NA 2504 0.6401 NA NA NA NA 0 G 1797,2609 366,1065,772 33 34 34 1.6 0.2 3 dbSNP_116 34 4414,4182 1149,2116,1033 no intron RNF123 NM_022064.2 1515,3181,1805 AA,AG,GG 48.6505,40.7853,47.7696 49736565 6211,6791 2203 4298 6501 SO:0001627 intron_variant AK022627 CCDS33758.1 3p24.3 2008-02-05 ENSG00000164068 ENSG00000164068 63891 RING-type (C3HC4) zinc fingers 21148 protein-coding gene gene with protein product 614472 NA Standard NM_022064 NM_022064 NA Approved FLJ12565 uc003cxh.4 Q5XPI4 OTTHUMG00000156891 ENST00000327697.6:c.764+27G>A chr3.hg19:g.49736565G>A NA A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2 hg19 CCDS33758.1 0.02 1.696561 TGGxCTG COVERED NOVEL RNF123-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000346475.2 0 4.81348 KEEP 0 0 0 16 538 GG 0.997832 0.997052 0 + 5 60 176 0 0 11.897388 74 60 2685 108 ENST00000327697.6 0.063291 0.999218 RNF123 63891 __UNKNOWN__ __UNKNOWN__ 3 49744392 49744392 __UNKNOWN__ Intron SNP A A G rs3749241 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:49744392A>G ENST00000327697.6 + 26 2640 RNF123_ENST00000432042.1_Intron NM_022064.3 NP_071347.2 Q5XPI4 RN123_HUMAN ring finger protein 123 NA NA protein ubiquitination (GO:0016567) cytoplasm (GO:0005737) ligase activity (GO:0016874)|zinc ion binding (GO:0008270) NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255) GTCTAGCAAGATTGTGCCAGG 0.617 NA a||| 2991 0.597244 0.4138 0.6484 5008 , , NA 16981 0.8333 NA 0.5239 False NA ,,, NA NA NA 2504 0.6411 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK022627 CCDS33758.1 3p24.3 2008-02-05 ENSG00000164068 ENSG00000164068 63891 RING-type (C3HC4) zinc fingers 21148 protein-coding gene gene with protein product 614472 NA Standard NM_022064 NM_022064 NA Approved FLJ12565 uc003cxh.4 Q5XPI4 OTTHUMG00000156891 ENST00000327697.6:c.2496+61A>G chr3.hg19:g.49744392A>G NA A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2 hg19 CCDS33758.1 0.02 4.476267 AAGxTTG COVERED NOVEL RNF123-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000346475.2 0 3.610438 KEEP 0 0 0 12 359 AA 0.993634 0.99363 0 + 8 60 274 0 0 18.828471 106 60 3749 126 ENST00000327697.6 0.070175 0.999996 RNF123 63891 __UNKNOWN__ __UNKNOWN__ 3 49750188 49750188 __UNKNOWN__ Intron SNP T T A rs3749240 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:49750188T>A ENST00000327697.6 + 27 2818 RNF123_ENST00000432042.1_3'UTR NM_022064.3 NP_071347.2 Q5XPI4 RN123_HUMAN ring finger protein 123 NA NA protein ubiquitination (GO:0016567) cytoplasm (GO:0005737) ligase activity (GO:0016874)|zinc ion binding (GO:0008270) NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255) AGCAACACACTTCTGTGGGGG 0.602 NA A||| 2990 0.597045 0.4138 0.6484 5008 , , NA 18410 0.8333 NA 0.5249 False NA ,,, NA NA NA 2504 0.6391 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK022627 CCDS33758.1 3p24.3 2008-02-05 ENSG00000164068 ENSG00000164068 63891 RING-type (C3HC4) zinc fingers 21148 protein-coding gene gene with protein product 614472 NA Standard NM_022064 NM_022064 NA Approved FLJ12565 uc003cxh.4 Q5XPI4 OTTHUMG00000156891 ENST00000327697.6:c.2674+99T>A chr3.hg19:g.49750188T>A NA A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2 hg19 CCDS33758.1 0.02 8.593019 CACxTCT COVERED NOVEL RNF123-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000346475.2 0 6.581496 KEEP 0 2 57 42 1296 TT 1 1 0 + 13 60 476 0 0 32.581938 199 60 7108 295 ENST00000327697.6 0.061321 1 RNF123 63891 __UNKNOWN__ __UNKNOWN__ 3 49753003 49753003 __UNKNOWN__ Intron SNP T T G rs34614773 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:49753003T>G ENST00000327697.6 + 32 3154 RNF123_ENST00000433785.1_Intron NM_022064.3 NP_071347.2 Q5XPI4 RN123_HUMAN ring finger protein 123 NA NA protein ubiquitination (GO:0016567) cytoplasm (GO:0005737) ligase activity (GO:0016874)|zinc ion binding (GO:0008270) NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255) CCTGTCCCCCTGCAGAGCCCT 0.602 NA T||| 2929 0.584864 0.3714 0.6455 5008 , , NA 20863 0.8304 NA 0.5249 False NA ,,, NA NA NA 2504 0.6391 NA NA NA NA 0 T 1810,2596 524.1+/-371.2 364,1082,757 43 39 40 -1.3 0.2 3 dbSNP_126 40 4428,4172 581.5+/-391.2 1155,2118,1027 no intron RNF123 NM_022064.2 1519,3200,1784 GG,GT,TT 48.5116,41.0803,47.9625 49753003 6238,6768 2203 4300 6503 SO:0001627 intron_variant AK022627 CCDS33758.1 3p24.3 2008-02-05 ENSG00000164068 ENSG00000164068 63891 RING-type (C3HC4) zinc fingers 21148 protein-coding gene gene with protein product 614472 NA Standard NM_022064 NM_022064 NA Approved FLJ12565 uc003cxh.4 Q5XPI4 OTTHUMG00000156891 ENST00000327697.6:c.3011-5T>G chr3.hg19:g.49753003T>G NA A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2 hg19 CCDS33758.1 0.02 5.223739 CCCxGCA COVERED NOVEL RNF123-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000346475.2 0 5.079111 KEEP 0 2 54 36 1085 TT 1 1 0 + 10 60 319 0 0 20.015074 166 60 6116 233 ENST00000327697.6 0.056818 1 IP6K1 9807 __UNKNOWN__ __UNKNOWN__ 3 49762662 49762662 __UNKNOWN__ 3'UTR SNP G G T rs7634902 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:49762662G>T ENST00000321599.4 - 0 3520 IP6K1_ENST00000395238.1_3'UTR NM_001242829.1|NM_153273.3 NP_001229758.1|NP_695005.1 Q92551 IP6K1_HUMAN inositol hexakisphosphate kinase 1 NA NA inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol phosphorylation (GO:0046854)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440) breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|skin(2) 15 TCCCAGAATCGAGGAATCTGG 0.517 NA T||| 2998 0.598642 0.4168 0.6513 5008 , , NA 20524 0.8333 NA 0.5258 False NA ,,, NA NA NA 2504 0.6401 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D87452 CCDS33760.1, CCDS43092.1 3p21.31 2009-01-05 2009-01-05 2008-12-22 ENSG00000176095 ENSG00000176095 9807 18360 protein-coding gene gene with protein product 606991 inositol hexaphosphate kinase 1 IHPK1 NA Standard NM_153273 NM_001242829 NA Approved KIAA0263 uc003cxm.1 Q92551 OTTHUMG00000158197 ENST00000321599.4:c.*1893C>A chr3.hg19:g.49762662G>T NA A8K157|A8MUX4|Q7L3I7|Q96E38 hg19 CCDS33760.1 0.02 9.465352 ATCxAGG COVERED NOVEL IP6K1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000350380.1 1 23.474714 KEEP 0 0 0 78 2662 GG 1 1 0 - 21 60 742 0 0 54.412148 194 60 6556 353 ENST00000321599.4 0.097674 1 IP6K1 9807 __UNKNOWN__ __UNKNOWN__ 3 49763338 49763338 __UNKNOWN__ 3'UTR SNP T T C rs1049256 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:49763338T>C ENST00000321599.4 - 0 2844 IP6K1_ENST00000395238.1_3'UTR NM_001242829.1|NM_153273.3 NP_001229758.1|NP_695005.1 Q92551 IP6K1_HUMAN inositol hexakisphosphate kinase 1 NA NA inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol phosphorylation (GO:0046854)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440) breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|skin(2) 15 AGGAAGGGCATGGGGCAAAAG 0.463 NA C||| 2997 0.598442 0.4168 0.6513 5008 , , NA 23100 0.8333 NA 0.5258 False NA ,,, NA NA NA 2504 0.6391 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D87452 CCDS33760.1, CCDS43092.1 3p21.31 2009-01-05 2009-01-05 2008-12-22 ENSG00000176095 ENSG00000176095 9807 18360 protein-coding gene gene with protein product 606991 inositol hexaphosphate kinase 1 IHPK1 NA Standard NM_153273 NM_001242829 NA Approved KIAA0263 uc003cxm.1 Q92551 OTTHUMG00000158197 ENST00000321599.4:c.*1217A>G chr3.hg19:g.49763338T>C NA A8K157|A8MUX4|Q7L3I7|Q96E38 hg19 CCDS33760.1 0.02 8.894691 GCAxGGG COVERED NOVEL IP6K1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000350380.1 1 12.537155 KEEP 0 1 35 54 1660 TT 1 1 0 - 26 60 895 0 0 67.043441 197 60 7148 329 ENST00000321599.4 0.116592 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 49861282 49861282 __UNKNOWN__ IGR SNP G G A rs11715304 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:49861282G>A NA NA AC139451.1 (4796 upstream) : TRAIP (4751 downstream) NA NA NA gggaggccgaggcgggcggat 0.522 NA G||| 918 0.183307 0.0174 0.1873 5008 , , NA 16017 0.1567 NA 0.3072 False NA ,,, NA NA NA 2504 0.3047 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.49861282G>A NA hg19 0.02 -0.026319 CGAxGCG UNCOVERED NOVEL 0 4 2.708979 KEEP 2 0 0 9 330 GG 0 0 0 2 60 69 0 0 7.024685 1 60 42 15 0.666667 0 SEMA3F 6405 __UNKNOWN__ __UNKNOWN__ 3 50197092 50197092 __UNKNOWN__ Silent SNP C C T rs2072053 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:50197092C>T ENST00000002829.3 + 2 521 c.37C>T c.(37-39)Ctg>Ttg p.L13L SEMA3F_ENST00000434342.1_Silent_p.L13L|SEMA3F_ENST00000413852.1_Intron NM_004186.3 NP_004177.3 Q13275 SEM3F_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F 13 NA axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|negative regulation of axon extension involved in axon guidance (GO:0048843)|nerve development (GO:0021675)|neural crest cell migration (GO:0001755)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637) extracellular space (GO:0005615)|membrane (GO:0016020) chemorepellent activity (GO:0045499)|receptor activity (GO:0004872) central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2) 17 BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688) GGCTTCCCTACTGACCGGGGC 0.622 NA C||| 844 0.16853 0.0015 0.2651 5008 , , NA 16628 0.626 NA 0.0129 False NA ,,, NA NA NA 2504 0.0143 NA NA NA NA 0 C 37,4369 40.0+/-72.8 0,37,2166 61 57 58 37 4.7 1 3 dbSNP_96 58 50,8550 30.1+/-81.4 0,50,4250 no coding-synonymous SEMA3F NM_004186.3 0,87,6416 TT,TC,CC 0.5814,0.8398,0.6689 13/786 50197092 87,12919 2203 4300 6503 SO:0001819 synonymous_variant U33920 CCDS2811.1 3p21.3 2013-01-11 ENSG00000001617 ENSG00000001617 6405 Semaphorins, Immunoglobulin superfamily / Immunoglobulin-like domain containing 10728 protein-coding gene gene with protein product sema IV 601124 NA 8786119, 8649831 Standard NM_004186 NM_004186 NA Approved SEMAK, Sema4 uc003cyj.3 Q13275 OTTHUMG00000156806 ENST00000002829.3:c.37C>T chr3.hg19:g.50197092C>T NA C9JQ85|Q13274|Q13372|Q15704|Q6GTR4 hg19 CCDS2811.1 0.02 25.195767 CTAxTGA COVERED NOVEL SEMA3F-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000345929.1 3 43.632737 KEEP 0 0 0 145 5180 CC 1 1 0 + 51 60 1873 0 0 137.677273 504 60 19003 862 ENST00000002829.3 0.091892 1 SEMA3F 6405 __UNKNOWN__ __UNKNOWN__ 3 50211475 50211475 __UNKNOWN__ Intron SNP C C G rs374355347 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:50211475C>G ENST00000002829.3 + 4 757 SEMA3F_ENST00000434342.1_Intron|SEMA3F_ENST00000413852.1_Intron NM_004186.3 NP_004177.3 Q13275 SEM3F_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F NA NA axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|negative regulation of axon extension involved in axon guidance (GO:0048843)|nerve development (GO:0021675)|neural crest cell migration (GO:0001755)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637) extracellular space (GO:0005615)|membrane (GO:0016020) chemorepellent activity (GO:0045499)|receptor activity (GO:0004872) central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2) 17 BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688) TCTGACCCCCCTCTCTGCAGA 0.627 NA C||| 9 0.00179712 0.0 0.0 5008 , , NA 21212 0.0089 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 76 76 76 NA NA 3 NA 50211475 2203 4300 6503 SO:0001627 intron_variant U33920 CCDS2811.1 3p21.3 2013-01-11 ENSG00000001617 ENSG00000001617 6405 Semaphorins, Immunoglobulin superfamily / Immunoglobulin-like domain containing 10728 protein-coding gene gene with protein product sema IV 601124 NA 8786119, 8649831 Standard NM_004186 NM_004186 NA Approved SEMAK, Sema4 uc003cyj.3 Q13275 OTTHUMG00000156806 ENST00000002829.3:c.274-10C>G chr3.hg19:g.50211475C>G NA C9JQ85|Q13274|Q13372|Q15704|Q6GTR4 hg19 CCDS2811.1 0.02 19.081703 CCCxTCT COVERED NOVEL SEMA3F-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000345929.1 3 19.262451 KEEP 0 0 0 64 2265 CC 1 1 0 + 15 60 541 0 0 32.287278 465 60 17444 631 ENST00000002829.3 0.03125 1 GNAT1 2779 __UNKNOWN__ __UNKNOWN__ 3 50231420 50231420 __UNKNOWN__ Intron SNP C C G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:50231420C>G ENST00000433068.1 + 6 634 GNAT1_ENST00000232461.3_Intron|GNAT1_ENST00000481246.1_Intron NM_000172.3 NP_000163.2 P11488 GNAT1_HUMAN guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1 NA NA adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell proliferation (GO:0008283)|cellular response to electrical stimulus (GO:0071257)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|phototransduction, visible light (GO:0007603)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to light intensity (GO:0009642)|response to light stimulus (GO:0009416)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|visual perception (GO:0007601) apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886) acyl binding (GO:0000035)|G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) ACCCCGCCAGCAGAAAGGGTG 0.716 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS2812.1 3p21 2014-01-28 ENSG00000114349 ENSG00000114349 2779 4393 protein-coding gene gene with protein product 139330 NA Standard NM_000172 NM_000172 NA Approved CSNBAD3 uc003cyl.2 P11488 OTTHUMG00000156808 ENST00000433068.1:c.579-105C>G chr3.hg19:g.50231420C>G NA Q4VBN2 hg19 CCDS2812.1 0.02 4.023567 CAGxAGA COVERED NOVEL GNAT1-002 NOVEL basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000345957.1 1 5.116105 KEEP 0 0 0 17 569 CC 0.999366 0.999365 0 + 5 60 173 0 0 10.66524 115 60 4348 143 ENST00000433068.1 0.041667 0.999999 GNAI2 2771 __UNKNOWN__ __UNKNOWN__ 3 50294551 50294551 __UNKNOWN__ Intron SNP A A G rs9830408 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:50294551A>G ENST00000313601.6 + 7 1261 GNAI2_ENST00000491100.1_Intron|GNAI2_ENST00000440628.1_Intron|GNAI2_ENST00000536647.1_Intron|GNAI2_ENST00000266027.5_Intron|GNAI2_ENST00000451956.1_Intron|GNAI2_ENST00000422163.1_Intron NM_002070.2 NP_002061.1 P04899 GNAI2_HUMAN guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 NA NA activation of MAPKK activity (GO:0000186)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of synaptic transmission (GO:0050805)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|regulation of calcium ion transport (GO:0051924)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268) centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|membrane raft (GO:0045121)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982) G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 16 BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651) TAGGGCCTCCAGAGGGTTGCT 0.577 NA OREG0015582 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) G||| 1728 0.345048 0.5734 0.3516 5008 , , NA 19944 0.6181 NA 0.0417 False NA ,,, NA NA NA 2504 0.0624 NA NA NA NA 0 G , 2155,2251 593.4+/-388.0 551,1053,599 50 50 50 , -1.5 0 3 dbSNP_119 50 337,8263 801.6+/-407.4 10,317,3973 no intron,intron GNAI2 NM_001166425.1,NM_002070.2 , 561,1370,4572 GG,GA,AA 3.9186,48.9106,19.1604 , , 50294551 2492,10514 2203 4300 6503 SO:0001627 intron_variant X04828 CCDS2813.1, CCDS54587.1, CCDS63642.1, CCDS63644.1 3p21.31 2010-08-27 ENSG00000114353 ENSG00000114353 2771 4385 protein-coding gene gene with protein product GTP-binding regulatory protein Gi alpha-2 chain 139360 GNAI2B NA 3100330, 1733849 Standard NM_002070 NM_001166425 NA Approved GIP uc003cyq.1 P04899 OTTHUMG00000156940 ENST00000313601.6:c.877+29A>G chr3.hg19:g.50294551A>G 968 B3KTZ0|B4DYA0|B4E2X5|Q6B6N3|Q8IZ71 hg19 CCDS2813.1 0.02 4.85197 TCCxGAG COVERED NOVEL GNAI2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000346688.1 1 9.628444 KEEP 0 0 0 32 989 AA 0.999997 0.999997 0 + 11 60 372 0 0 26.173018 117 60 4282 185 ENST00000313601.6 0.085937 1 SEMA3B 7869 __UNKNOWN__ __UNKNOWN__ 3 50306545 50306545 __UNKNOWN__ RNA SNP C C G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:50306545C>G ENST00000418948.1 + 0 108 Q13214 SEM3B_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B NA NA axon guidance (GO:0007411)|cell-cell signaling (GO:0007267) endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) receptor activity (GO:0004872) central_nervous_system(2)|kidney(1)|lung(2)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) CCTGGGGACTCCCCCCCTAGC 0.662 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA U28369 CCDS74941.1 3p21.3 2013-01-11 ENSG00000012171 ENSG00000012171 7869 Semaphorins, Immunoglobulin superfamily / Immunoglobulin-like domain containing 10724 protein-coding gene gene with protein product 601281 SEMAA NA 7748561, 8633026 Standard NM_001005914 NM_004636 NA Approved SemA, semaV, LUCA-1, sema5 uc003cyu.3 Q13214 OTTHUMG00000156970 ENST00000418948.1: chr3.hg19:g.50306545C>G NA Q6GU46|Q8TB71|Q8TDV7|Q93018|Q96GX0 hg19 0.02 -0.324598 ACTxCCC COVERED NOVEL SEMA3B-001 KNOWN sequence_error|basic processed_transcript NA processed_transcript OTTHUMT00000346890.2 1 8.419322 KEEP 0 0 0 28 931 CC 0.999997 0.835713 0 + 3 60 115 0 0 8.410319 34 60 1221 78 ENST00000418948.1 0.081081 0.835716 SEMA3B 7869 __UNKNOWN__ __UNKNOWN__ 3 50307950 50307950 __UNKNOWN__ RNA SNP G G A rs57978992 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:50307950G>A ENST00000418948.1 + 0 564 Q13214 SEM3B_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B NA NA axon guidance (GO:0007411)|cell-cell signaling (GO:0007267) endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) receptor activity (GO:0004872) central_nervous_system(2)|kidney(1)|lung(2)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) GCCCGGGCCGGGAGTGGGGAG 0.667 NA G||| 877 0.17512 0.0318 0.2695 5008 , , NA 17845 0.62 NA 0.0109 False NA ,,, NA NA NA 2504 0.0123 NA NA NA NA 0 G , 154,3726 7,140,1793 34 42 39 , 2.3 0 3 dbSNP_129 39 39,8269 0,39,4115 no intron,intron SEMA3B NM_001005914.1,NM_004636.2 , 7,179,5908 AA,AG,GG 0.4694,3.9691,1.5835 , , 50307950 193,11995 1940 4154 6094 U28369 CCDS74941.1 3p21.3 2013-01-11 ENSG00000012171 ENSG00000012171 7869 Semaphorins, Immunoglobulin superfamily / Immunoglobulin-like domain containing 10724 protein-coding gene gene with protein product 601281 SEMAA NA 7748561, 8633026 Standard NM_001005914 NM_004636 NA Approved SemA, semaV, LUCA-1, sema5 uc003cyu.3 Q13214 OTTHUMG00000156970 ENST00000418948.1: chr3.hg19:g.50307950G>A NA Q6GU46|Q8TB71|Q8TDV7|Q93018|Q96GX0 hg19 0.02 7.045163 CCGxGAG COVERED NOVEL SEMA3B-001 KNOWN sequence_error|basic processed_transcript NA processed_transcript OTTHUMT00000346890.2 1 17.728782 KEEP 0 0 0 59 1985 GG 1 1 0 + 21 60 791 0 0 61.40694 151 60 5450 271 ENST00000418948.1 0.122093 1 SEMA3B 7869 __UNKNOWN__ __UNKNOWN__ 3 50307956 50307956 __UNKNOWN__ RNA SNP G G C rs41291726 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:50307956G>C ENST00000418948.1 + 0 564 Q13214 SEM3B_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B NA NA axon guidance (GO:0007411)|cell-cell signaling (GO:0007267) endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) receptor activity (GO:0004872) central_nervous_system(2)|kidney(1)|lung(2)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) GCCGGGAGTGGGGAGGGTCAG 0.667 NA NA NA NA NA NA NA NA NA NA NA 0 32 39 37 NA NA 3 NA 50307956 1941 4150 6091 U28369 CCDS74941.1 3p21.3 2013-01-11 ENSG00000012171 ENSG00000012171 7869 Semaphorins, Immunoglobulin superfamily / Immunoglobulin-like domain containing 10724 protein-coding gene gene with protein product 601281 SEMAA NA 7748561, 8633026 Standard NM_001005914 NM_004636 NA Approved SemA, semaV, LUCA-1, sema5 uc003cyu.3 Q13214 OTTHUMG00000156970 ENST00000418948.1: chr3.hg19:g.50307956G>C NA Q6GU46|Q8TB71|Q8TDV7|Q93018|Q96GX0 hg19 0.02 6.56318 GTGxGGA COVERED NOVEL SEMA3B-001 KNOWN sequence_error|basic processed_transcript NA processed_transcript OTTHUMT00000346890.2 1 15.950751 KEEP 0 0 0 53 1812 GG 1 1 0 + 12 60 420 0 0 28.896423 158 60 5719 256 ENST00000418948.1 0.070588 1 SEMA3B 7869 __UNKNOWN__ __UNKNOWN__ 3 50311900 50311900 __UNKNOWN__ RNA SNP C C T rs2071203 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:50311900C>T ENST00000418948.1 + 0 1478 Q13214 SEM3B_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B NA NA axon guidance (GO:0007411)|cell-cell signaling (GO:0007267) endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) receptor activity (GO:0004872) central_nervous_system(2)|kidney(1)|lung(2)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) GTCCTGCCCACTGGGGGGCGC 0.567 NA OREG0015583 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) T||| 1087 0.217053 0.1815 0.2911 5008 , , NA 18906 0.6181 NA 0.0109 False NA ,,, NA NA NA 2504 0.0112 NA NA NA NA 0 T ILE/THR,ILE/THR 653,3177 52,549,1314 100 103 102 1243,1240 3.4 0 3 dbSNP_96 102 42,8208 0,42,4083 no missense,missense SEMA3B NM_004636.2,NM_001005914.1 89,89 52,591,5397 TT,TC,CC 0.5091,17.0496,5.7533 benign,benign 415/750,414/749 50311900 695,11385 1915 4125 6040 U28369 CCDS74941.1 3p21.3 2013-01-11 ENSG00000012171 ENSG00000012171 7869 Semaphorins, Immunoglobulin superfamily / Immunoglobulin-like domain containing 10724 protein-coding gene gene with protein product 601281 SEMAA NA 7748561, 8633026 Standard NM_001005914 NM_004636 NA Approved SemA, semaV, LUCA-1, sema5 uc003cyu.3 Q13214 OTTHUMG00000156970 ENST00000418948.1: chr3.hg19:g.50311900C>T 968 Q6GU46|Q8TB71|Q8TDV7|Q93018|Q96GX0 hg19 0.02 15.859183 CCAxTGG COVERED 540 0.24725274725274726 107 0.21747967479674796 87 0.24033149171270718 337 0.5891608391608392 9 0.011873350923482849 T 0.116 -1.132223 0.01756 0.170496 0.005091 ENSG00000012171 ENST00000316347 . . . 4.61 3.42 0.39159 WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4); 0.777483 0.12951 N 0.425819 T 0.00012 0.0000 . . . . . . B;B;B;B 0.02656 0.0;0.0;0.0;0.0 B;B;B;B 0.01281 0.0;0.0;0.0;0.0 T 0.47812 -0.9088 7 0.02654 T 1 . 5.2254 0.15391 0.0:0.0938:0.3536:0.5526 rs2071203;rs61445553;rs2071203 414;164;414;415 Q13214-2;Q59FY7;F5H2H7;Q13214 .;.;.;SEM3B_HUMAN I 414 . ENSP00000446262:T414I T + 2 0 SEMA3B 50286904 0.005000 0.15991 0.031000 0.17742 0.402000 0.30811 1.702000 0.37836 0.265000 0.21872 -0.254000 0.11334 ACT NOVEL SEMA3B-001 KNOWN sequence_error|basic processed_transcript NA processed_transcript OTTHUMT00000346890.2 0 51.469017 KEEP 0 0 0 171 6213 CC 1 1 0 + 28 60 996 0 0 69.902562 343 60 13017 716 ENST00000418948.1 0.075472 1 LSMEM2 132228 __UNKNOWN__ __UNKNOWN__ 3 50324672 50324672 __UNKNOWN__ 3'UTR SNP T T G rs12629572 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:50324672T>G ENST00000316436.3 + 0 621 NM_153215.1 NP_694947.1 Q8N112 LSME2_HUMAN leucine-rich single-pass membrane protein 2 NA NA integral component of membrane (GO:0016021) NA TGTGTGTTGGTGGGGGAATAA 0.552 NA T||| 1521 0.303714 0.23 0.3746 5008 , , NA 17842 0.6905 NA 0.1302 False NA ,,, NA NA NA 2504 0.1329 NA NA NA NA 0 T 912,3494 110,692,1401 28 33 31 0.7 0 3 dbSNP_120 31 803,7797 40,723,3537 no utr-3 C3orf45 NM_153215.1 150,1415,4938 GG,GT,TT 9.3372,20.699,13.1862 50324672 1715,11291 2203 4300 6503 SO:0001624 3_prime_UTR_variant AK095927 CCDS2814.1 3p21.31 2013-03-08 2013-03-08 2013-03-08 ENSG00000179564 ENSG00000179564 132228 26781 protein-coding gene gene with protein product chromosome 3 open reading frame 45 C3orf45 NA Standard NM_153215 NM_153215 NA Approved FLJ38608 uc003cyz.3 Q8N112 OTTHUMG00000156938 ENST00000316436.3:c.*39T>G chr3.hg19:g.50324672T>G NA hg19 CCDS2814.1 0.02 9.136397 TGGxGGG COVERED NOVEL LSMEM2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000346671.1 3 18.978371 KEEP 0 1 5 65 1923 TT 1 1 0 + 18 60 633 0 0 45.348064 189 60 6373 336 ENST00000316436.3 0.086957 1 IFRD2 7866 __UNKNOWN__ __UNKNOWN__ 3 50326020 50326020 __UNKNOWN__ Silent SNP G G A rs2229647 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:50326020G>A ENST00000436390.1 - 13 1643 c.1146C>T c.(1144-1146)caC>caT p.H382H IFRD2_ENST00000336089.4_Silent_p.H548H|IFRD2_ENST00000417626.2_Silent_p.H382H|IFRD2_ENST00000429673.2_Silent_p.H446H Q12894 IFRD2_HUMAN interferon-related developmental regulator 2 446 NA nucleus (GO:0005634) breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1) 14 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) GCACCTGGAGGTGGTGGTGCA 0.617 NA G||| 1022 0.204073 0.1362 0.2824 5008 , , NA 19155 0.619 NA 0.0109 False NA ,,, NA NA NA 2504 0.0112 NA NA NA NA 0 G 484,3780 26,432,1674 69 77 75 1338 4.1 1 3 dbSNP_98 75 44,8446 0,44,4201 no coding-synonymous IFRD2 NM_006764.4 26,476,5875 AA,AG,GG 0.5183,11.3508,4.1399 446/507 50326020 528,12226 2132 4245 6377 SO:0001819 synonymous_variant U09585 3p21.3 2008-07-18 ENSG00000214706 ENSG00000214706 7866 5457 protein-coding gene gene with protein product interferon-related protein 602725 NA 9050919 Standard NM_006764 NM_006764 NA Approved SKMc15, SM15, IFNRP uc011bdp.2 Q12894 OTTHUMG00000156935 ENST00000436390.1:c.1146C>T chr3.hg19:g.50326020G>A NA Q9BVB4|Q9UJ88 hg19 0.02 25.189336 GAGxTGG COVERED NOVEL IFRD2-002 KNOWN alternative_5_UTR|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000346661.1 4 45.419998 KEEP 0 0 0 151 5284 GG 1 1 0 - 46 60 1633 0 0 115.29491 544 60 20056 908 ENST00000436390.1 0.077966 1 IFRD2 7866 __UNKNOWN__ __UNKNOWN__ 3 50327429 50327429 __UNKNOWN__ Silent SNP A A G rs2071205 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:50327429A>G ENST00000436390.1 - 8 974 c.477T>C c.(475-477)ttT>ttC p.F159F IFRD2_ENST00000336089.4_Silent_p.F325F|IFRD2_ENST00000417626.2_Silent_p.F159F|IFRD2_ENST00000429673.2_Silent_p.F223F Q12894 IFRD2_HUMAN interferon-related developmental regulator 2 223 NA nucleus (GO:0005634) breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1) 14 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) GCAGGCTGTGAAACAGCTCCT 0.632 NA G||| 1090 0.217652 0.1823 0.2911 5008 , , NA 20942 0.62 NA 0.0109 False NA ,,, NA NA NA 2504 0.0112 NA NA NA NA 0 G 695,3587 52,591,1498 25 29 28 669 3 1 3 dbSNP_96 28 45,8469 0,45,4212 no coding-synonymous IFRD2 NM_006764.4 52,636,5710 GG,GA,AA 0.5285,16.2307,5.7831 223/507 50327429 740,12056 2141 4257 6398 SO:0001819 synonymous_variant U09585 3p21.3 2008-07-18 ENSG00000214706 ENSG00000214706 7866 5457 protein-coding gene gene with protein product interferon-related protein 602725 NA 9050919 Standard NM_006764 NM_006764 NA Approved SKMc15, SM15, IFNRP uc011bdp.2 Q12894 OTTHUMG00000156935 ENST00000436390.1:c.477T>C chr3.hg19:g.50327429A>G NA Q9BVB4|Q9UJ88 hg19 0.02 12.165335 GTGxAAC COVERED NOVEL IFRD2-002 KNOWN alternative_5_UTR|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000346661.1 0 24.672497 KEEP 0 0 0 82 2527 AA 1 1 0 - 20 60 728 0 0 51.813235 238 60 8475 406 ENST00000436390.1 0.077519 1 HYAL3 8372 __UNKNOWN__ __UNKNOWN__ 3 50330987 50330987 __UNKNOWN__ Intron SNP T T C rs2071204 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:50330987T>C ENST00000336307.1 - 4 1257 HYAL3_ENST00000513170.1_Intron|HYAL3_ENST00000359051.3_Intron|HYAL3_ENST00000450982.1_Intron|HYAL3_ENST00000415204.1_Intron NM_001200029.1|NM_003549.3 NP_001186958.1|NP_003540.2 O43820 HYAL3_HUMAN hyaluronoglucosaminidase 3 NA NA carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|hyaluronan catabolic process (GO:0030214)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)|response to virus (GO:0009615) cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|lysosome (GO:0005764) hyaluronoglucuronidase activity (GO:0033906)|hyalurononglucosaminidase activity (GO:0004415) central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) GCCTGCTCTATAATCTTGACA 0.552 NA C||| 1090 0.217652 0.1823 0.2911 5008 , , NA 21022 0.62 NA 0.0109 False NA ,,, NA NA NA 2504 0.0112 NA NA NA NA 0 C ,,,, 762,3644 751.1+/-412.2 63,636,1504 59 62 61 ,,,, 1.8 0 3 dbSNP_96 61 46,8554 816.1+/-406.9 0,46,4254 no intron,intron,intron,intron,intron HYAL3 NM_001200029.1,NM_001200030.1,NM_001200031.1,NM_001200032.1,NM_003549.3 ,,,, 63,682,5758 CC,CT,TT 0.5349,17.2946,6.2125 ,,,, ,,,, 50330987 808,12198 2203 4300 6503 SO:0001627 intron_variant AF040710 CCDS2815.1, CCDS56259.1, CCDS56260.1, CCDS56257.1 3p21.3 2004-03-12 ENSG00000186792 ENSG00000186792 8372 5322 protein-coding gene gene with protein product 604038 NA 10493834 Standard NM_003549 NM_003549 NA Approved LUCA-3, LUCA14, Minna14 uc021wyn.1 O43820 OTTHUMG00000156936 ENST00000336307.1:c.985-41A>G chr3.hg19:g.50330987T>C NA O60540|Q8NFK2|Q8NFK3|Q8NFK4|Q96E56|Q9BRW9 hg19 CCDS2815.1 0.02 7.008535 CTAxAAT COVERED NOVEL HYAL3-001 KNOWN basic|appris_principal|readthrough_transcript|CCDS protein_coding NA protein_coding OTTHUMT00000346664.1 0 22.563191 KEEP 0 0 0 75 2264 TT 1 1 0 - 19 60 707 0 0 52.504972 181 60 6432 332 ENST00000336307.1 0.095 1 HYAL3 8372 __UNKNOWN__ __UNKNOWN__ 3 50336661 50336661 __UNKNOWN__ 5'UTR SNP T T C rs2285044 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:50336661T>C ENST00000336307.1 - 0 238 NAT6_ENST00000443842.1_5'UTR|HYAL3_ENST00000513170.1_5'UTR|HYAL3_ENST00000450982.1_5'UTR|HYAL3_ENST00000415204.1_5'UTR|NAT6_ENST00000354862.4_5'UTR|NAT6_ENST00000443094.2_5'UTR NM_001200029.1|NM_003549.3 NP_001186958.1|NP_003540.2 O43820 HYAL3_HUMAN hyaluronoglucosaminidase 3 NA NA carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|hyaluronan catabolic process (GO:0030214)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)|response to virus (GO:0009615) cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|lysosome (GO:0005764) hyaluronoglucuronidase activity (GO:0033906)|hyalurononglucosaminidase activity (GO:0004415) central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) TGCTGGCCTCTGGGATGTTCC 0.657 NA C||| 1089 0.217452 0.1823 0.2911 5008 , , NA 15035 0.619 NA 0.0109 False NA ,,, NA NA NA 2504 0.0112 NA NA NA NA 0 C ,,,,, 751,3615 64,623,1496 95 117 109 ,,,,, 2 0.4 3 dbSNP_100 109 46,8492 0,46,4223 no utr-5,utr-5,utr-5,utr-5,utr-5,utr-5 HYAL3,NAT6 NM_001200016.1,NM_001200030.1,NM_001200031.1,NM_001200032.1,NM_003549.3,NM_012191.3 ,,,,, 64,669,5719 CC,CT,TT 0.5388,17.2011,6.1764 ,,,,, ,,,,, 50336661 797,12107 2183 4269 6452 SO:0001623 5_prime_UTR_variant AF040710 CCDS2815.1, CCDS56259.1, CCDS56260.1, CCDS56257.1 3p21.3 2004-03-12 ENSG00000186792 ENSG00000186792 8372 5322 protein-coding gene gene with protein product 604038 NA 10493834 Standard NM_003549 NM_003549 NA Approved LUCA-3, LUCA14, Minna14 uc021wyn.1 O43820 OTTHUMG00000156936 ENST00000336307.1:c.-35A>G chr3.hg19:g.50336661T>C NA O60540|Q8NFK2|Q8NFK3|Q8NFK4|Q96E56|Q9BRW9 hg19 CCDS2815.1 0.02 17.562344 CTCxGGG COVERED NOVEL HYAL3-001 KNOWN basic|appris_principal|readthrough_transcript|CCDS protein_coding NA protein_coding OTTHUMT00000346664.1 4 71.917447 KEEP 0 0 0 239 7536 TT 1 1 0 - 21 60 782 0 0 53.492168 338 60 12680 795 ENST00000336307.1 0.058496 1 HYAL2 8692 __UNKNOWN__ __UNKNOWN__ 3 50355730 50355730 __UNKNOWN__ Missense_Mutation SNP T T G rs35455589 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:50355730T>G ENST00000447092.1 - 3 3544 c.1252A>C c.(1252-1254)Att>Ctt p.I418L HYAL2_ENST00000357750.4_Missense_Mutation_p.I418L|HYAL2_ENST00000442581.1_Missense_Mutation_p.I418L|HYAL2_ENST00000395139.3_Missense_Mutation_p.I418L Q12891 HYAL2_HUMAN hyaluronoglucosaminidase 2 418 EGF-like. NA I -> L (in dbSNP:rs35455589). carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interleukin-1 (GO:0071347)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|defense response to virus (GO:0051607)|fusion of virus membrane with host plasma membrane (GO:0019064)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hematopoietic progenitor cell differentiation (GO:0002244)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|kidney development (GO:0001822)|monocyte activation (GO:0042117)|multicellular organismal aging (GO:0010259)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cell growth (GO:0030308)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|response to antibiotic (GO:0046677)|response to reactive oxygen species (GO:0000302)|response to virus (GO:0009615)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|transformation of host cell by virus (GO:0019087)|viral entry into host cell (GO:0046718) anchored component of external side of plasma membrane (GO:0031362)|anchored component of plasma membrane (GO:0046658)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|lysosome (GO:0005764)|membrane raft (GO:0045121)|microvillus (GO:0005902)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886) enzyme binding (GO:0019899)|hyaluronic acid binding (GO:0005540)|hyaluronoglucuronidase activity (GO:0033906)|hyalurononglucosaminidase activity (GO:0004415)|receptor signaling protein tyrosine kinase inhibitor activity (GO:0030294)|receptor tyrosine kinase binding (GO:0030971)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618) breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1) 7 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) AGGTGGTCAATGTCGGCCCAA 0.612 NA G||| 1091 0.217851 0.1838 0.2911 5008 , , NA 21368 0.619 NA 0.0109 False NA ,,, NA NA NA 2504 0.0112 NA NA NA NA 0 G LEU/ILE,LEU/ILE 768,3638 750.3+/-412.1 65,638,1500 67 65 66 1252,1252 5.2 0.9 3 dbSNP_126 66 46,8554 815.4+/-407.0 0,46,4254 yes missense,missense HYAL2 NM_003773.4,NM_033158.4 5,5 65,684,5754 GG,GT,TT 0.5349,17.4308,6.2586 benign,benign 418/474,418/474 50355730 814,12192 2203 4300 6503 SO:0001583 missense AJ000099 CCDS2818.1 3p21.3 2008-07-18 ENSG00000068001 ENSG00000068001 8692 5321 protein-coding gene gene with protein product lysosomal hyaluronidase, PH-20 homolog, hyaluronidase 2 603551 NA 9712871, 9790770 Standard NM_003773 NM_003773 NA Approved LuCa-2, LUCA2 uc003czv.3 Q12891 OTTHUMG00000156876 ENST00000447092.1:c.1252A>C chr3.hg19:g.50355730T>G ENSP00000401853:p.Ile418Leu NA B3KRZ2|O15177|Q9BW29 hg19 CCDS2818.1 0.02 14.890662 CAAxGTC COVERED 544 0.2490842490842491 110 0.22357723577235772 87 0.24033149171270718 338 0.5909090909090909 9 0.011873350923482849 G 2.286 -0.363655 0.05103 0.174308 0.005349 ENSG00000068001 ENST00000447092;ENST00000357750;ENST00000395139;ENST00000442581 T;T;T;T 0.12361 2.69;2.69;2.69;2.69 6.08 5.15 0.70609 Epidermal growth factor-like (1); 1.034420 0.07561 N 0.916980 T 0.00012 0.0000 N 0.05554 -0.025 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.41106 -0.9527 9 0.02654 T 1 -3.8986 9.2312 0.37439 0.0:0.1295:0.4865:0.384 rs35455589;rs61556777;rs35455589 418 Q12891 HYAL2_HUMAN L 418 ENSP00000401853:I418L;ENSP00000350387:I418L;ENSP00000378571:I418L;ENSP00000406657:I418L ENSP00000350387:I418L I - 1 0 HYAL2 50330734 0.898000 0.30612 0.902000 0.35471 0.660000 0.38997 1.242000 0.32755 1.603000 0.50134 -0.121000 0.15023 ATT NOVEL HYAL2-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000346391.1 3 49.643351 KEEP 0 0 0 165 5034 TT 1 1 0 - 23 60 898 0 0 64.763986 300 60 10926 608 ENST00000447092.1 0.071207 1 TUSC2 11334 __UNKNOWN__ __UNKNOWN__ 3 50358514 50358514 __UNKNOWN__ Intron SNP A A G rs4688733 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:50358514A>G ENST00000462137.1 - 3 325 HYAL2_ENST00000357750.4_Intron|HYAL2_ENST00000447092.1_5'UTR|HYAL2_ENST00000442581.1_Intron|HYAL2_ENST00000395139.3_Intron O75896 TUSC2_HUMAN tumor suppressor candidate 2 NA NA cell cycle (GO:0007049)|cell maturation (GO:0048469)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|chemokine (C-C motif) ligand 5 production (GO:0071609)|inflammatory response (GO:0006954)|interleukin-15 production (GO:0032618)|natural killer cell differentiation (GO:0001779)|negative regulation of interleukin-17 production (GO:0032700)|neutrophil mediated killing of gram-negative bacterium (GO:0070945)|phagocytosis (GO:0006909)|positive regulation of interleukin-10 production (GO:0032733)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to defense-related host reactive oxygen species production (GO:0052567) mitochondrion (GO:0005739) lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) GAGGCCCCGTAGGGACAAAGG 0.721 NA G||| 1091 0.217851 0.1838 0.2911 5008 , , NA 11569 0.619 NA 0.0109 False NA ,,, NA NA NA 2504 0.0112 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF055479 CCDS2819.1 3p21.3 2010-09-21 2004-01-20 2004-01-21 ENSG00000114383 ENSG00000114383 11334 17034 protein-coding gene gene with protein product 607052 PDGFA associated protein 2 PDAP2 NA 8780057, 11593436 Standard NM_007275 NM_007275 NA Approved FUS1, PAP, C3orf11 uc003czy.1 O75896 OTTHUMG00000156877 ENST00000462137.1:c.510-548T>C chr3.hg19:g.50358514A>G NA B2R4Y9 hg19 0.02 4.292082 CGTxGGG COVERED NOVEL TUSC2-007 PUTATIVE not_organism_supported|basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000346405.1 3 41.805351 KEEP 0 1 37 152 4602 AA 1 1 0 - 10 60 361 1 0 25.398351 125 60 4429 377 ENST00000462137.1 0.074074 1 TUSC2 11334 __UNKNOWN__ __UNKNOWN__ 3 50363771 50363771 __UNKNOWN__ Intron SNP G G A rs2236946 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:50363771G>A ENST00000462137.1 - 2 325 TUSC2_ENST00000232496.4_Intron O75896 TUSC2_HUMAN tumor suppressor candidate 2 NA NA cell cycle (GO:0007049)|cell maturation (GO:0048469)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|chemokine (C-C motif) ligand 5 production (GO:0071609)|inflammatory response (GO:0006954)|interleukin-15 production (GO:0032618)|natural killer cell differentiation (GO:0001779)|negative regulation of interleukin-17 production (GO:0032700)|neutrophil mediated killing of gram-negative bacterium (GO:0070945)|phagocytosis (GO:0006909)|positive regulation of interleukin-10 production (GO:0032733)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to defense-related host reactive oxygen species production (GO:0052567) mitochondrion (GO:0005739) lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) CTCTGTGACCGCTGCCCAGCC 0.572 NA A||| 1043 0.208267 0.1498 0.2867 5008 , , NA 16235 0.619 NA 0.0109 False NA ,,, NA NA NA 2504 0.0112 NA NA NA NA 0 A 597,3809 770.2+/-413.7 39,519,1645 68 64 65 2.8 0.5 3 dbSNP_98 65 44,8556 817.2+/-406.9 0,44,4256 no intron TUSC2 NM_007275.1 39,563,5901 AA,AG,GG 0.5116,13.5497,4.9285 50363771 641,12365 2203 4300 6503 SO:0001627 intron_variant AF055479 CCDS2819.1 3p21.3 2010-09-21 2004-01-20 2004-01-21 ENSG00000114383 ENSG00000114383 11334 17034 protein-coding gene gene with protein product 607052 PDGFA associated protein 2 PDAP2 NA 8780057, 11593436 Standard NM_007275 NM_007275 NA Approved FUS1, PAP, C3orf11 uc003czy.1 O75896 OTTHUMG00000156877 ENST00000462137.1:c.509+16C>T chr3.hg19:g.50363771G>A NA B2R4Y9 hg19 0.02 2.229516 ACCxCTG COVERED NOVEL TUSC2-007 PUTATIVE not_organism_supported|basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000346405.1 0 11.098424 KEEP 0 0 0 37 1179 GG 1 0.998465 0 - 4 60 154 0 0 10.528108 71 60 2440 127 ENST00000462137.1 0.053333 0.998465 RASSF1 11186 __UNKNOWN__ __UNKNOWN__ 3 50367867 50367867 __UNKNOWN__ 3'UTR SNP A A C rs2073497 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:50367867A>C ENST00000357043.2 - 0 1215 RASSF1_ENST00000359365.4_3'UTR|RASSF1_ENST00000327761.3_3'UTR|RASSF1_ENST00000395126.3_3'UTR Ras association (RalGDS/AF-6) domain family member 1 NA NA lung(2)|ovary(1)|skin(1)|urinary_tract(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) GGAGCAAGCTACTTCGCTGTT 0.622 NA C||| 1091 0.217851 0.1838 0.2911 5008 , , NA 20424 0.619 NA 0.0109 False NA ,,, NA NA NA 2504 0.0112 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF132675 CCDS2820.1, CCDS2821.1, CCDS2822.1, CCDS43096.1 3p21.3 2008-02-22 2008-02-22 ENSG00000068028 ENSG00000068028 11186 9882 protein-coding gene gene with protein product 605082 NA Standard NM_170713 NA Approved NORE2A, REH3P21, RDA32, 123F2 uc003dad.1 Q9NS23 OTTHUMG00000149958 ENST00000357043.2:c.*145T>G chr3.hg19:g.50367867A>C NA hg19 CCDS2820.1 0.02 2.322629 GCTxCTT COVERED NOVEL RASSF1-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000314304.1 1 7.520725 KEEP 0 0 0 25 734 AA 0.999931 0.970753 0 - 5 60 185 0 0 13.694731 48 60 1683 98 ENST00000357043.2 0.09434 0.97082 RASSF1 11186 __UNKNOWN__ __UNKNOWN__ 3 50378176 50378176 __UNKNOWN__ Missense_Mutation SNP T T G rs4688725 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:50378176T>G ENST00000357043.2 - 1 96 c.61A>C c.(61-63)Aag>Cag p.K21Q RASSF1_ENST00000359365.4_Missense_Mutation_p.K21Q|RASSF1_ENST00000488024.1_5'UTR Ras association (RalGDS/AF-6) domain family member 1 NA NA lung(2)|ovary(1)|skin(1)|urinary_tract(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) GTGCGGCCCTTCCCAGCGCGC 0.736 NA G||| 1175 0.234625 0.2436 0.2954 5008 , , NA 13606 0.62 NA 0.0119 False NA ,,, NA NA NA 2504 0.0112 NA NA NA NA 0 G ,GLN/LYS,GLN/LYS 402,2740 7,388,1176 2 3 3 ,61,61 4.5 0 3 dbSNP_111 3 24,6908 0,24,3442 no utr-5,missense,missense RASSF1 NM_001206957.1,NM_007182.4,NM_170714.1 ,53,53 7,412,4618 GG,GT,TT 0.3462,12.7944,4.2287 ,benign,benign ,21/341,21/345 50378176 426,9648 1571 3466 5037 SO:0001583 missense AF132675 CCDS2820.1, CCDS2821.1, CCDS2822.1, CCDS43096.1 3p21.3 2008-02-22 2008-02-22 ENSG00000068028 ENSG00000068028 11186 9882 protein-coding gene gene with protein product 605082 NA Standard NM_170713 NA Approved NORE2A, REH3P21, RDA32, 123F2 uc003dad.1 Q9NS23 OTTHUMG00000149958 ENST00000357043.2:c.61A>C chr3.hg19:g.50378176T>G ENSP00000349547:p.Lys21Gln NA hg19 CCDS2820.1 0.02 4.774909 CCTxCCC COVERED 588 0.2692307692307692 154 0.3130081300813008 87 0.24033149171270718 338 0.5909090909090909 9 0.011873350923482849 G 1.302 -0.604589 0.03717 0.127944 0.003462 ENSG00000068028 ENST00000357043;ENST00000359365 T;T 0.76448 -1.02;-1.01 5.35 4.48 0.54585 . 1.004080 0.08017 N 0.991328 T 0.00012 0.0000 N 0.08118 0 0.80722 P 0.0 B;B;B 0.02656 0.0;0.0;0.0 B;B;B 0.01281 0.0;0.0;0.0 T 0.45920 -0.9228 9 0.12766 T 0.61 -7.5566 7.9536 0.30029 0.0764:0.0:0.6392:0.2844 rs4688725 21;21;21 B4DVA1;Q9NS23-2;Q9NS23 .;.;RASF1_HUMAN Q 21 ENSP00000349547:K21Q;ENSP00000352323:K21Q ENSP00000349547:K21Q K - 1 0 RASSF1 50353180 0.003000 0.15002 0.029000 0.17559 0.010000 0.07245 0.412000 0.21131 0.652000 0.30806 -0.121000 0.15023 AAG NOVEL RASSF1-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000314304.1 0 15.34433 KEEP 0 0 0 51 1578 TT 1 0.999996 0 - 10 60 372 0 0 27.258985 104 60 3590 190 ENST00000357043.2 0.087719 0.999996 ZMYND10 51364 __UNKNOWN__ __UNKNOWN__ 3 50378628 50378628 __UNKNOWN__ 3'UTR SNP A A G rs3213621 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:50378628A>G ENST00000231749.3 - 0 2808 ZMYND10_ENST00000490675.1_5'UTR|ZMYND10_ENST00000360165.3_3'UTR|ZMYND10-AS1_ENST00000440013.1_RNA NM_015896.2 NP_056980.2 O75800 ZMY10_HUMAN zinc finger, MYND-type containing 10 NA NA inner dynein arm assembly (GO:0036159)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158) centriolar satellite (GO:0034451)|cytoplasm (GO:0005737) metal ion binding (GO:0046872) endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2) 14 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) CTGAAGCAACACACTTGGCCT 0.617 NA TSP Lung(30;0.18) G||| 1182 0.236022 0.2489 0.2954 5008 , , NA 18266 0.62 NA 0.0119 False NA ,,, NA NA NA 2504 0.0112 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U70824 CCDS2825.1 3p21.3 2014-02-03 ENSG00000004838 ENSG00000004838 51364 Zinc fingers, MYND-type 19412 protein-coding gene gene with protein product 607070 NA 12629521, 23891469 Standard NM_015896 NM_015896 NA Approved BLU, CILD22 uc003dag.1 O75800 OTTHUMG00000156874 ENST00000231749.3:c.*213T>C chr3.hg19:g.50378628A>G NA A6NK41|B3KU54|O14570|O75801|Q53FE6|Q8N4R6|Q8NDN6 hg19 CCDS2825.1 0.02 2.271455 AACxCAC COVERED NOVEL ZMYND10-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000346376.1 2 17.748558 KEEP 0 0 0 59 1774 AA 1 0.999895 0 - 8 60 307 0 0 22.675858 85 60 2972 205 ENST00000231749.3 0.086022 0.999895 ZMYND10 51364 __UNKNOWN__ __UNKNOWN__ 3 50378946 50378946 __UNKNOWN__ Intron SNP A A G rs1989839 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:50378946A>G ENST00000231749.3 - 12 2520 ZMYND10_ENST00000490675.1_Intron|ZMYND10_ENST00000360165.3_Intron|ZMYND10-AS1_ENST00000440013.1_RNA NM_015896.2 NP_056980.2 O75800 ZMY10_HUMAN zinc finger, MYND-type containing 10 NA NA inner dynein arm assembly (GO:0036159)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158) centriolar satellite (GO:0034451)|cytoplasm (GO:0005737) metal ion binding (GO:0046872) endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2) 14 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) GAGGATGGCAATGCATGTGGG 0.552 NA TSP Lung(30;0.18) G||| 1553 0.310104 0.2564 0.3761 5008 , , NA 21793 0.6875 NA 0.1292 False NA ,,, NA NA NA 2504 0.1329 NA NA NA NA 0 G 1114,3292 717.5+/-408.7 136,842,1225 162 151 155 4 0 3 dbSNP_92 155 910,7690 777.8+/-407.7 41,828,3431 no intron ZMYND10 NM_015896.2 177,1670,4656 GG,GA,AA 10.5814,25.2837,15.562 50378946 2024,10982 2203 4300 6503 SO:0001627 intron_variant U70824 CCDS2825.1 3p21.3 2014-02-03 ENSG00000004838 ENSG00000004838 51364 Zinc fingers, MYND-type 19412 protein-coding gene gene with protein product 607070 NA 12629521, 23891469 Standard NM_015896 NM_015896 NA Approved BLU, CILD22 uc003dag.1 O75800 OTTHUMG00000156874 ENST00000231749.3:c.1248-30T>C chr3.hg19:g.50378946A>G NA A6NK41|B3KU54|O14570|O75801|Q53FE6|Q8N4R6|Q8NDN6 hg19 CCDS2825.1 0.02 16.372554 GCAxTGC COVERED NOVEL ZMYND10-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000346376.1 1 30.089928 KEEP 0 0 0 100 3156 AA 1 1 0 - 23 60 852 0 0 59.105196 335 60 12086 544 ENST00000231749.3 0.064246 1 ZMYND10 51364 __UNKNOWN__ __UNKNOWN__ 3 50384143 50384143 __UNKNOWN__ 5'UTR SNP G G C rs4688724 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:50384143G>C ENST00000231749.3 - 0 140 NM_015896.2 NP_056980.2 O75800 ZMY10_HUMAN zinc finger, MYND-type containing 10 NA NA inner dynein arm assembly (GO:0036159)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158) centriolar satellite (GO:0034451)|cytoplasm (GO:0005737) metal ion binding (GO:0046872) endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2) 14 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) ttccaaagaggtttttgcctc 0.478 NA TSP Lung(30;0.18) G||| 832 0.166134 0.0015 0.2666 5008 , , NA 20339 0.6181 NA 0.0109 False NA ,,, NA NA NA 2504 0.0112 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant U70824 CCDS2825.1 3p21.3 2014-02-03 ENSG00000004838 ENSG00000004838 51364 Zinc fingers, MYND-type 19412 protein-coding gene gene with protein product 607070 NA 12629521, 23891469 Standard NM_015896 NM_015896 NA Approved BLU, CILD22 uc003dag.1 O75800 OTTHUMG00000156874 ENST00000231749.3:c.-1133C>G chr3.hg19:g.50384143G>C NA A6NK41|B3KU54|O14570|O75801|Q53FE6|Q8N4R6|Q8NDN6 hg19 CCDS2825.1 0.02 15.28489 GAGxTTT COVERED NOVEL ZMYND10-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000346376.1 4 34.311349 KEEP 0 0 0 114 4040 GG 1 1 0 - 31 60 1174 0 0 87.336373 304 60 11309 570 ENST00000231749.3 0.092537 1 CYB561D2 11068 __UNKNOWN__ __UNKNOWN__ 3 50388354 50388354 __UNKNOWN__ 3'UTR SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:50388354C>T ENST00000419046.1 + 0 51 CYB561D2_ENST00000232508.5_5'UTR|XXcos-LUCA11.5_ENST00000606589.1_5'UTR|NPRL2_ENST00000232501.3_5'UTR|CYB561D2_ENST00000418577.1_5'UTR|CYB561D2_ENST00000424512.1_5'UTR|CYB561D2_ENST00000425346.1_5'UTR O14569 C56D2_HUMAN cytochrome b561 family, member D2 NA NA oxidation-reduction process (GO:0055114) integral component of membrane (GO:0016021) metal ion binding (GO:0046872) endometrium(1)|lung(1)|urinary_tract(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) CGGCAGGGCCCGGAGTATCCC 0.682 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF040704 CCDS2827.1 3p21.3 2013-03-14 2013-03-14 ENSG00000114395 ENSG00000114395 11068 Cytochrome b genes 30253 protein-coding gene gene with protein product putative tumor suppressor 101F6 607068 cytochrome b-561 domain containing 2 NA 9122200, 11085536, 23249217 Standard NM_007022 XM_005264832 NA Approved 101F6, TSP10 uc003dal.3 O14569 OTTHUMG00000156813 ENST00000419046.1:c.*48C>T chr3.hg19:g.50388354C>T NA A8K552 hg19 0.02 12.61924 GCCxGGA COVERED NOVEL CYB561D2-005 PUTATIVE basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000346206.1 2 72.511204 KEEP 0 0 0 241 8365 CC 1 1 0 + 12 60 415 0 0 24.670617 330 60 11545 785 ENST00000419046.1 0.035088 1 CYB561D2 11068 __UNKNOWN__ __UNKNOWN__ 3 50388383 50388383 __UNKNOWN__ 3'UTR SNP C C A rs2233476 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:50388383C>A ENST00000419046.1 + 0 80 CYB561D2_ENST00000232508.5_5'UTR|XXcos-LUCA11.5_ENST00000606589.1_5'UTR|NPRL2_ENST00000232501.3_5'UTR|CYB561D2_ENST00000418577.1_5'UTR|CYB561D2_ENST00000424512.1_5'UTR|CYB561D2_ENST00000425346.1_5'UTR O14569 C56D2_HUMAN cytochrome b561 family, member D2 NA NA oxidation-reduction process (GO:0055114) integral component of membrane (GO:0016021) metal ion binding (GO:0046872) endometrium(1)|lung(1)|urinary_tract(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) TGGAGGAAACCACCGCATCAG 0.662 NA C||| 1022 0.204073 0.1369 0.2824 5008 , , NA 17337 0.6181 NA 0.0109 False NA ,,, NA NA NA 2504 0.0112 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF040704 CCDS2827.1 3p21.3 2013-03-14 2013-03-14 ENSG00000114395 ENSG00000114395 11068 Cytochrome b genes 30253 protein-coding gene gene with protein product putative tumor suppressor 101F6 607068 cytochrome b-561 domain containing 2 NA 9122200, 11085536, 23249217 Standard NM_007022 XM_005264832 NA Approved 101F6, TSP10 uc003dal.3 O14569 OTTHUMG00000156813 ENST00000419046.1:c.*77C>A chr3.hg19:g.50388383C>A NA A8K552 hg19 0.02 15.522007 AACxACC COVERED NOVEL CYB561D2-005 PUTATIVE basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000346206.1 4 73.116387 KEEP 0 2 36 256 9000 CC 1 1 0 + 22 60 789 0 0 53.391911 341 60 12453 828 ENST00000419046.1 0.060606 1 CYB561D2 11068 __UNKNOWN__ __UNKNOWN__ 3 50391468 50391468 __UNKNOWN__ 3'UTR SNP T T C rs58181992 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:50391468T>C ENST00000425346.1 + 0 1277 CYB561D2_ENST00000232508.5_3'UTR|XXcos-LUCA11.5_ENST00000606589.1_Intron|CYB561D2_ENST00000424512.1_3'UTR O14569 C56D2_HUMAN cytochrome b561 family, member D2 NA NA oxidation-reduction process (GO:0055114) integral component of membrane (GO:0016021) metal ion binding (GO:0046872) endometrium(1)|lung(1)|urinary_tract(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) TCAGAAATTTTAGGAGAGAAA 0.433 NA C||| 1085 0.216653 0.1793 0.2882 5008 , , NA 20355 0.621 NA 0.0109 False NA ,,, NA NA NA 2504 0.0112 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF040704 CCDS2827.1 3p21.3 2013-03-14 2013-03-14 ENSG00000114395 ENSG00000114395 11068 Cytochrome b genes 30253 protein-coding gene gene with protein product putative tumor suppressor 101F6 607068 cytochrome b-561 domain containing 2 NA 9122200, 11085536, 23249217 Standard NM_007022 XM_005264832 NA Approved 101F6, TSP10 uc003dal.3 O14569 OTTHUMG00000156813 ENST00000425346.1:c.*293T>C chr3.hg19:g.50391468T>C NA A8K552 hg19 CCDS2827.1 0.02 2.261205 TTTxAGG COVERED NOVEL CYB561D2-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000345972.2 0 6.0182 KEEP 0 0 0 20 629 TT 0.999863 0.987808 0 + 6 60 225 0 0 16.893155 54 60 1937 84 ENST00000425346.1 0.1 0.987943 XXcos-LUCA11.5 0 __UNKNOWN__ __UNKNOWN__ 3 50401841 50401841 __UNKNOWN__ Intron SNP G G A rs12496815 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:50401841G>A ENST00000606589.1 + 3 245 CACNA2D2_ENST00000360963.3_3'UTR|CACNA2D2_ENST00000395083.1_3'UTR|CACNA2D2_ENST00000424201.2_3'UTR|CACNA2D2_ENST00000423994.2_3'UTR|CACNA2D2_ENST00000435965.1_3'UTR|CACNA2D2_ENST00000266039.3_3'UTR|CACNA2D2_ENST00000429770.1_3'UTR NA NA NA CCACTGGGGGGAGCCCAGCAG 0.642 NA G||| 838 0.167332 0.0015 0.2666 5008 , , NA 17902 0.624 NA 0.0109 False NA ,,, NA NA NA 2504 0.0112 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000606589.1:c.128-1887G>A chr3.hg19:g.50401841G>A NA hg19 0.02 4.148623 GGGxAGC COVERED NOVEL XXcos-LUCA11.5-001 PUTATIVE basic|appris_principal|readthrough_transcript protein_coding NA protein_coding OTTHUMT00000470670.1 2 18.356016 KEEP 0 0 0 61 2117 GG 1 1 0 + 13 60 470 0 0 34.419575 127 60 4573 247 ENST00000606589.1 0.092857 1 CACNA2D2 9254 __UNKNOWN__ __UNKNOWN__ 3 50415642 50415642 __UNKNOWN__ Intron SNP A A C rs12485286 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:50415642A>C ENST00000479441.1 - 14 1389 CACNA2D2_ENST00000360963.3_Intron|CACNA2D2_ENST00000395083.1_Intron|CACNA2D2_ENST00000424201.2_Intron|CACNA2D2_ENST00000423994.2_Intron|CACNA2D2_ENST00000435965.1_Intron|CACNA2D2_ENST00000266039.3_Intron|CACNA2D2_ENST00000429770.1_Intron Q9NY47 CA2D2_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 2 NA NA energy reserve metabolic process (GO:0006112)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|positive regulation of organ growth (GO:0046622)|regulation of insulin secretion (GO:0050796)|regulation of multicellular organism growth (GO:0040014)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281) plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891) metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245) breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1) 31 BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) Amiodarone(DB01118)|Bepridil(DB01244)|Felodipine(DB01023)|Gabapentin(DB00996)|Isradipine(DB00270)|Nitrendipine(DB01054)|Spironolactone(DB00421) CCCTTGGCCCACAGCAGCCCA 0.647 NA A||| 1015 0.202676 0.1271 0.2839 5008 , , NA 19121 0.623 NA 0.0109 False NA ,,, NA NA NA 2504 0.0112 NA NA NA NA 0 A ,, 176,1208 14,148,530 34 37 36 ,, 2.9 0.8 3 dbSNP_120 36 21,3161 0,21,1570 no intron,intron,intron CACNA2D2 NM_001005505.1,NM_001174051.1,NM_006030.2 ,, 14,169,2100 CC,CA,AA 0.66,12.7168,4.3145 ,, ,, 50415642 197,4369 692 1591 2283 SO:0001627 intron_variant AF040709 CCDS33763.1, CCDS54588.1, CCDS63647.1 3p21.3 2004-02-27 ENSG00000007402 ENSG00000007402 9254 Calcium channel subunits 1400 protein-coding gene gene with protein product gene 26 607082 NA Standard NM_006030 XM_005265581 NA Approved KIAA0558 uc003daq.3 Q9NY47 OTTHUMG00000156887 ENST00000479441.1:c.1389+72T>G chr3.hg19:g.50415642A>C NA A7MD15|Q9NY48|Q9UEW0|Q9Y268 hg19 CCDS54588.1 0.02 9.626255 CCCxCAG COVERED NOVEL CACNA2D2-005 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000346457.1 0 11.733515 KEEP 0 0 0 39 1180 AA 1 1 0 - 18 60 645 0 0 46.508242 190 60 6636 267 ENST00000479441.1 0.086538 1 DOCK3 1795 __UNKNOWN__ __UNKNOWN__ 3 50825067 50825067 __UNKNOWN__ Intron SNP T T C rs2608999 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:50825067T>C ENST00000266037.9 + 2 144 NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 NA NA small GTPase mediated signal transduction (GO:0007264) cytoplasm (GO:0005737) guanyl-nucleotide exchange factor activity (GO:0005085) breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) CTTAGGTGGCTCTGCACTCTT 0.502 NA T||| 337 0.0672923 0.025 0.1225 5008 , , NA 18800 0.0526 NA 0.1093 False NA ,,, NA NA NA 2504 0.0573 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB002297 CCDS46835.1 3p21 2008-02-01 ENSG00000088538 ENSG00000088538 1795 2989 protein-coding gene gene with protein product 603123 dedicator of cyto-kinesis 3 NA 9205841 Standard NM_004947 NM_004947 NA Approved KIAA0299, MOCA, PBP uc011bds.2 Q8IZD9 OTTHUMG00000156892 ENST00000266037.9:c.121+8878T>C chr3.hg19:g.50825067T>C NA O15017 hg19 CCDS46835.1 0.02 4.275617 GGCxCTG COVERED NOVEL DOCK3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000346478.5 2 3.610956 KEEP 0 0 0 12 376 TT 0.993634 0.99363 0 + 6 60 223 0 0 14.980704 107 60 3975 157 ENST00000266037.9 0.053097 0.999996 DOCK3 1795 __UNKNOWN__ __UNKNOWN__ 3 50900974 50900974 __UNKNOWN__ Intron SNP C C T rs2675825 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:50900974C>T ENST00000266037.9 + 3 185 NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 NA NA small GTPase mediated signal transduction (GO:0007264) cytoplasm (GO:0005737) guanyl-nucleotide exchange factor activity (GO:0005085) breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) ctttgctagactctcgatgct 0.463 NA C||| 350 0.0698882 0.0257 0.1326 5008 , , NA 20290 0.0526 NA 0.1143 False NA ,,, NA NA NA 2504 0.0573 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB002297 CCDS46835.1 3p21 2008-02-01 ENSG00000088538 ENSG00000088538 1795 2989 protein-coding gene gene with protein product 603123 dedicator of cyto-kinesis 3 NA 9205841 Standard NM_004947 NM_004947 NA Approved KIAA0299, MOCA, PBP uc011bds.2 Q8IZD9 OTTHUMG00000156892 ENST00000266037.9:c.162+21828C>T chr3.hg19:g.50900974C>T NA O15017 hg19 CCDS46835.1 0.02 6.470341 AGAxTCT COVERED NOVEL DOCK3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000346478.5 1 10.835621 KEEP 0 0 0 36 1320 CC 0.999999 0.999999 0 + 8 60 298 0 0 19.162605 185 60 7172 313 ENST00000266037.9 0.041451 1 IQCF3 401067 __UNKNOWN__ __UNKNOWN__ 3 51864849 51864849 __UNKNOWN__ 3'UTR SNP A A G rs9866552 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:51864849A>G ENST00000456080.1 + 0 1662 IQCF3_ENST00000444293.1_3'UTR|IQCF3_ENST00000440739.2_3'UTR|IQCF3_ENST00000462079.1_3'UTR P0C7M6 IQCF3_HUMAN IQ motif containing F3 NA NA endometrium(1)|large_intestine(2)|lung(2)|ovary(1) 6 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) AGGCTGCACTACCCTAATAAA 0.478 NA G||| 847 0.169129 0.5045 0.0749 5008 , , NA 22045 0.0625 NA 0.0229 False NA ,,, NA NA NA 2504 0.0429 NA NA NA NA 0 G , 1659,2279 348,963,658 29 30 30 , -0.9 0 3 dbSNP_119 30 174,8122 3,168,3977 no utr-3,utr-3 IQCF3 NM_001085479.2,NM_001207023.1 , 351,1131,4635 GG,GA,AA 2.0974,42.128,14.9828 , , 51864849 1833,10401 1969 4148 6117 SO:0001624 3_prime_UTR_variant AK057432 CCDS46837.1 3p21.31 2008-06-12 ENSG00000229972 ENSG00000229972 401067 31816 protein-coding gene gene with protein product NA Standard NM_001085479 NM_001085479 NA Approved uc021wyz.1 P0C7M6 OTTHUMG00000156910 ENST00000456080.1:c.*32A>G chr3.hg19:g.51864849A>G NA B2RUV0 hg19 CCDS46837.1 0.02 16.401789 ACTxCCC COVERED NOVEL IQCF3-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000346579.2 1 12.032318 KEEP 0 0 0 40 1188 AA 1 1 0 + 13 60 504 0 0 31.888882 375 60 12863 523 ENST00000456080.1 0.033505 1 RRP9 9136 __UNKNOWN__ __UNKNOWN__ 3 51975577 51975577 __UNKNOWN__ Intron SNP C C T rs929533|rs374223234 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:51975577C>T ENST00000232888.6 - 2 161 NM_004704.3 NP_004695.1 O43818 U3IP2_HUMAN ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast) NA NA rRNA processing (GO:0006364) nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|small nucleolar ribonucleoprotein complex (GO:0005732) poly(A) RNA binding (GO:0044822) breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1) 21 BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724) GGGCCCCCCCCCCTCGGTTCC 0.617 NA C||| 1722 0.34385 0.4924 0.4294 5008 , , NA 14522 0.4157 NA 0.2137 False NA ,,, NA NA NA 2504 0.1421 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ001340 CCDS2837.1 3p21.31 2013-01-10 2008-02-26 2006-10-24 ENSG00000114767 ENSG00000114767 9136 WD repeat domain containing 16829 protein-coding gene gene with protein product RNA, U3 small nucleolar interacting protein 2 RNU3IP2 NA 9418896, 12032086 Standard NM_004704 NM_004704 NA Approved U3-55K uc003dbw.2 O43818 OTTHUMG00000156930 ENST00000232888.6:c.88-70G>A chr3.hg19:g.51975577C>T NA B2R996|Q8IZ30 hg19 CCDS2837.1 0.02 1.733778 CCCxCCT COVERED NOVEL RRP9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000346637.1 1 8.123795 KEEP 0 0 0 27 890 CC 0.999988 0.999665 0 - 5 60 178 0 0 11.956403 79 60 2864 126 ENST00000232888.6 0.059524 0.999678 PARP3 10039 __UNKNOWN__ __UNKNOWN__ 3 51978640 51978640 __UNKNOWN__ Intron SNP G G A rs4687792 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:51978640G>A ENST00000398755.3 + 4 853 PARP3_ENST00000431474.1_Intron|PARP3_ENST00000417220.2_Intron Q9Y6F1 PARP3_HUMAN poly (ADP-ribose) polymerase family, member 3 NA NA DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|positive regulation of DNA ligation (GO:0051106)|protein ADP-ribosylation (GO:0006471)|protein localization to site of double-strand break (GO:1990166)|regulation of mitotic spindle organization (GO:0060236)|telomere maintenance (GO:0000723) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861) catalytic activity (GO:0003824)|NAD+ ADP-ribosyltransferase activity (GO:0003950) ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) TGAGGGAGGGGACTCGTTGGA 0.622 NA G||| 841 0.167931 0.0061 0.3069 5008 , , NA 18131 0.4117 NA 0.1123 False NA ,,, NA NA NA 2504 0.0941 NA NA NA NA 0 G , 102,4176 0,102,2037 48 56 53 , 1.8 0 3 dbSNP_111 53 900,7562 46,808,3377 no intron,intron PARP3 NM_001003931.2,NM_005485.4 , 46,910,5414 AA,AG,GG 10.6358,2.3843,7.865 , , 51978640 1002,11738 2139 4231 6370 SO:0001627 intron_variant AF083068 CCDS43097.1, CCDS46839.1 3p22.2-p21.1 2010-07-14 2004-08-20 2004-08-26 ENSG00000041880 ENSG00000041880 10039 2.4.2.30 Poly (ADP-ribose) polymerases 273 protein-coding gene gene with protein product poly(ADP-ribose) synthetase-3, NAD+ ADP-ribosyltransferase 3, poly(ADP-ribose) polymerase 3 607726 ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 3 ADPRTL3 NA 10329013 Standard NM_005485.4 NM_001003931 NA Approved ADPRT3, IRT1, hPARP-3, pADPRT-3 uc003dbz.3 Q9Y6F1 OTTHUMG00000156931 ENST00000398755.3:c.522+46G>A chr3.hg19:g.51978640G>A NA Q8NER9|Q96CG2|Q9UG81 hg19 CCDS46839.1 0.02 1.961863 GGGxACT COVERED NOVEL PARP3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000346638.1 0 2.407616 KEEP 0 0 0 8 266 GG 0.99257 0.980603 0 + 5 60 167 0 0 11.614682 55 60 2032 71 ENST00000398755.3 0.083333 0.987943 WDR82 80335 __UNKNOWN__ __UNKNOWN__ 3 52291078 52291078 __UNKNOWN__ 3'UTR SNP G G A rs57823393 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:52291078G>A ENST00000296490.3 - 0 1651 NM_025222.3 NP_079498.2 Q6UXN9 WDR82_HUMAN WD repeat domain 82 NA NA histone H3-K4 methylation (GO:0051568) chromatin (GO:0000785)|histone methyltransferase complex (GO:0035097)|PTW/PP1 phosphatase complex (GO:0072357)|Set1C/COMPASS complex (GO:0048188) chromatin binding (GO:0003682) NA BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246) GTGAGGGCAAGCGGCTGAGCT 0.502 NA G||| 878 0.175319 0.0197 0.1254 5008 , , NA 21172 0.3095 NA 0.2058 False NA ,,, NA NA NA 2504 0.2515 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF132207 CCDS2851.2 3p21.2 2013-01-10 2007-07-04 2007-07-04 ENSG00000164091 ENSG00000164091 80335 WD repeat domain containing 28826 protein-coding gene gene with protein product 611059 transmembrane protein 113 TMEM113 NA 17355966 Standard NM_025222 NM_025222 NA Approved PRO2730, MST107, MSTP107, PRO34047, WDR82A, SWD2 uc003ddl.2 Q6UXN9 OTTHUMG00000150391 ENST00000296490.3:c.*428C>T chr3.hg19:g.52291078G>A NA A8K5R5|Q8TEB2 hg19 CCDS2851.2 0.02 6.387588 CAAxCGG COVERED NOVEL WDR82-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000317919.1 1 13.778642 KEEP 0 1 29 56 2067 GG 1 1 0 - 13 60 471 1 0 32.687691 178 60 6805 319 ENST00000296490.3 0.068063 1 DNAH1 25981 __UNKNOWN__ __UNKNOWN__ 3 52395877 52395877 __UNKNOWN__ Intron SNP T T A rs370576516 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:52395877T>A ENST00000420323.2 + 30 5241 DNAH1_ENST00000466628.1_Intron NM_015512.4 NP_056327 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 NA NA cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612) axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777) cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) GGCGCTAAGGTCCACCCTGGG 0.662 NA T||| 1 0.000199681 0.0 0.0 5008 , , NA 17345 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U61738 CCDS46842.1 3p21-p14 2008-02-05 2006-09-04 ENSG00000114841 ENSG00000114841 25981 Axonemal dyneins 2940 protein-coding gene gene with protein product 603332 dynein, axonemal, heavy polypeptide 1 NA 8812413, 9256245 Standard NM_015512 NM_015512 NA Approved XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11 uc011bef.2 Q9P2D7 OTTHUMG00000158378 ENST00000420323.2:c.4980+95T>A chr3.hg19:g.52395877T>A NA B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7 hg19 CCDS46842.1 0.02 1.790369 AGGxCCA COVERED NOVEL DNAH1-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000350816.1 0 4.12999 KEEP 0 0 0 14 382 TT 0.995343 0.995206 0 + 8 60 264 0 0 18.464395 83 60 2809 110 ENST00000420323.2 0.087912 0.999862 DNAH1 25981 __UNKNOWN__ __UNKNOWN__ 3 52430526 52430526 __UNKNOWN__ Missense_Mutation SNP G G A rs12163565 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:52430526G>A ENST00000420323.2 + 71 11663 c.11402G>A c.(11401-11403)gGt>gAt p.G3801D NM_015512.4 NP_056327 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 3866 AAA 6. {ECO:0000250}. NA cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612) axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777) cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) AGTAGCCTTGGTGAAGACTTC 0.602 NA G||| 831 0.165935 0.0219 0.1239 5008 , , NA 17097 0.2927 NA 0.1978 False NA ,,, NA NA NA 2504 0.227 NA NA NA NA 0 G ASP/GLY 203,4047 10,183,1932 52 57 56 11402 2.3 0.7 3 dbSNP_120 56 1603,6875 158,1287,2794 yes missense DNAH1 NM_015512.4 94 168,1470,4726 AA,AG,GG 18.9078,4.7765,14.1892 benign 3801/4266 52430526 1806,10922 2125 4239 6364 SO:0001583 missense U61738 CCDS46842.1 3p21-p14 2008-02-05 2006-09-04 ENSG00000114841 ENSG00000114841 25981 Axonemal dyneins 2940 protein-coding gene gene with protein product 603332 dynein, axonemal, heavy polypeptide 1 NA 8812413, 9256245 Standard NM_015512 NM_015512 NA Approved XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11 uc011bef.2 Q9P2D7 OTTHUMG00000158378 ENST00000420323.2:c.11402G>A chr3.hg19:g.52430526G>A ENSP00000401514:p.Gly3801Asp NA B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7 hg19 CCDS46842.1 0.02 12.603115 TTGxTGA COVERED 363 0.1662087912087912 15 0.03048780487804878 52 0.143646408839779 144 0.2517482517482518 152 0.20052770448548812 G 0.006 -2.059211 0.00386 0.047765 0.189078 ENSG00000114841 ENST00000420323;ENST00000273600 T 0.07327 3.2 4.35 2.35 0.29111 . 0.375043 0.26684 N 0.023037 T 0.00012 0.0000 N 0.00602 -1.34 0.80722 P 0.0 B;B 0.02656 0.0;0.0 B;B 0.08055 0.0;0.003 T 0.47018 -0.9149 9 0.02654 T 1 . 10.1318 0.42682 0.0878:0.1423:0.7698:0.0 rs12163565;rs52793948;rs57160821;rs12163565 3801;3866 C9JXH6;Q9P2D7-2 .;. D 3801;554 ENSP00000401514:G3801D ENSP00000273600:G554D G + 2 0 DNAH1 52405566 0.985000 0.35326 0.712000 0.30502 0.148000 0.21650 1.873000 0.39558 1.034000 0.39945 0.491000 0.48974 GGT NOVEL DNAH1-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000350816.1 0 28.892098 KEEP 0 0 0 96 3369 GG 1 1 0 + 15 60 544 0 0 34.778876 330 60 12097 586 ENST00000420323.2 0.043478 1 SEMA3G 56920 __UNKNOWN__ __UNKNOWN__ 3 52467263 52467263 __UNKNOWN__ 3'UTR SNP G G A rs648514 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:52467263G>A ENST00000231721.2 - 0 4704 NM_020163.1 NP_064548.1 Q9NS98 SEM3G_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G NA NA multicellular organismal development (GO:0007275) extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) receptor activity (GO:0004872) kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1) 18 BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333) TCTTTCTCATGGAATGGATGG 0.413 NA G||| 2137 0.426717 0.2693 0.4496 5008 , , NA 20502 0.4534 NA 0.4503 False NA ,,, NA NA NA 2504 0.5716 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS2856.1 3p21.1 2013-01-11 ENSG00000010319 ENSG00000010319 56920 Semaphorins, Immunoglobulin superfamily / Immunoglobulin-like domain containing 30400 protein-coding gene gene with protein product NA 11214971 Standard NM_020163 XM_005265327 NA Approved FLJ00014, sem2 uc003dea.1 Q9NS98 OTTHUMG00000158570 ENST00000231721.2:c.*2356C>T chr3.hg19:g.52467263G>A NA Q7L9D9|Q9H7Q3 hg19 CCDS2856.1 0.02 5.806829 CATxGAA COVERED NOVEL SEMA3G-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000351354.1 2 12.94207 KEEP 0 0 0 43 1519 GG 1 1 0 - 7 60 255 0 0 15.84327 182 60 6855 281 ENST00000231721.2 0.037037 1 SEMA3G 56920 __UNKNOWN__ __UNKNOWN__ 3 52467322 52467322 __UNKNOWN__ 3'UTR SNP A A G rs1403102 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:52467322A>G ENST00000231721.2 - 0 4645 NM_020163.1 NP_064548.1 Q9NS98 SEM3G_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G NA NA multicellular organismal development (GO:0007275) extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) receptor activity (GO:0004872) kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1) 18 BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333) TCCATTTAGTACAATACACAG 0.408 NA A||| 231 0.0461262 0.0053 0.0692 5008 , , NA 20552 0.1369 NA 0.0239 False NA ,,, NA NA NA 2504 0.0143 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS2856.1 3p21.1 2013-01-11 ENSG00000010319 ENSG00000010319 56920 Semaphorins, Immunoglobulin superfamily / Immunoglobulin-like domain containing 30400 protein-coding gene gene with protein product NA 11214971 Standard NM_020163 XM_005265327 NA Approved FLJ00014, sem2 uc003dea.1 Q9NS98 OTTHUMG00000158570 ENST00000231721.2:c.*2297T>C chr3.hg19:g.52467322A>G NA Q7L9D9|Q9H7Q3 hg19 CCDS2856.1 0.02 6.743747 AGTxCAA COVERED NOVEL SEMA3G-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000351354.1 3 15.041727 KEEP 0 0 0 50 1516 AA 1 1 0 - 9 60 301 0 0 18.692386 187 60 6561 306 ENST00000231721.2 0.045918 1 STAB1 23166 __UNKNOWN__ __UNKNOWN__ 3 52538300 52538300 __UNKNOWN__ Intron SNP G G C rs7613444 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:52538300G>C ENST00000321725.6 + 10 1226 NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 NA NA cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898) endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044) breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) GGTGGCTGTGGGGGGTGCATG 0.627 NA G||| 821 0.163938 0.0166 0.1182 5008 , , NA 15401 0.2907 NA 0.1918 False NA ,,, NA NA NA 2504 0.2362 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ275213 CCDS33768.1 3p21.31 2008-07-18 ENSG00000010327 ENSG00000010327 23166 18628 protein-coding gene gene with protein product MS-1 antigen, fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1, common lymphatic endothelial and vascular endothelial receptor-1 608560 NA 11829752, 12077138 Standard NM_015136 XM_005264973 NA Approved KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1 uc003dej.3 Q9NY15 OTTHUMG00000158574 ENST00000321725.6:c.1150+129G>C chr3.hg19:g.52538300G>C NA A7E297|Q8IUH0|Q8IUH1|Q93072 hg19 CCDS33768.1 0.02 4.74522 GTGxGGG COVERED NOVEL STAB1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000351380.2 0 3.009184 KEEP 0 0 0 10 345 GG 0.992708 0.992695 0 + 12 60 448 0 0 34.269773 94 60 3303 122 ENST00000321725.6 0.113208 0.999987 MUSTN1 389125 __UNKNOWN__ __UNKNOWN__ 3 52867595 52867595 __UNKNOWN__ Intron SNP C C A rs60332615 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:52867595C>A ENST00000486659.1 - 2 305 MUSTN1_ENST00000446157.2_Intron|RP5-966M1.6_ENST00000513520.1_Intron|TMEM110-MUSTN1_ENST00000504329.1_Intron|RP5-966M1.6_ENST00000468472.1_Intron Q8IVN3 MSTN1_HUMAN musculoskeletal, embryonic nuclear protein 1 NA NA nucleus (GO:0005634) endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1) 7 BRCA - Breast invasive adenocarcinoma(193;6.56e-05)|Kidney(197;0.000586)|KIRC - Kidney renal clear cell carcinoma(197;0.000755)|OV - Ovarian serous cystadenocarcinoma(275;0.0471) CACACCTGCACCCCCATCCCC 0.542 NA C||| 2454 0.490016 0.2912 0.4409 5008 , , NA 16262 0.628 NA 0.5944 False NA ,,, NA NA NA 2504 0.544 NA NA NA NA 0 C , 1452,2546 255,942,802 87 94 91 , 0.2 0 3 dbSNP_129 91 5165,3201 1622,1921,640 no intron,intron MUSTN1,TMEM110-MUSTN1 NM_001198974.2,NM_205853.3 , 1877,2863,1442 AA,AC,CC 38.262,36.3182,46.4817 , , 52867595 6617,5747 1999 4183 6182 SO:0001627 intron_variant CCDS46846.1 3p21.31 2004-03-10 ENSG00000272573 389125 22144 protein-coding gene gene with protein product NA Standard XM_371644 NM_205853 NA Approved Mustang Q8IVN3 ENST00000486659.1:c.157+37G>T chr3.hg19:g.52867595C>A NA hg19 0.02 11.258317 GCAxCCC COVERED NOVEL MUSTN1-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000352953.1 3 18.639536 KEEP 0 0 0 62 2182 CC 1 1 0 - 26 60 923 0 0 68.011581 234 60 8559 407 ENST00000486659.1 0.1 1 RP5-966M1.6 0 __UNKNOWN__ __UNKNOWN__ 3 52869263 52869263 __UNKNOWN__ 5'UTR SNP C C A rs2276823 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:52869263C>A ENST00000468472.1 - 0 482 TMEM110-MUSTN1_ENST00000504329.1_Intron NA NA NA CTGCTTGATTCGCCGGGGGGA 0.572 NA C||| 2444 0.488019 0.2943 0.4409 5008 , , NA 18679 0.625 NA 0.5875 False NA ,,, NA NA NA 2504 0.5399 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant NA NA NA NA ENST00000468472.1:c.-299G>T chr3.hg19:g.52869263C>A NA hg19 0.02 2.037853 ATTxGCC COVERED NOVEL RP5-966M1.6-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000472149.1 0 8.72805 KEEP 0 0 0 29 992 CC 0.999997 0.999937 0 - 9 60 333 0 0 24.589256 88 60 3140 159 ENST00000468472.1 0.092784 0.99994 TMEM110-MUSTN1 100526772 __UNKNOWN__ __UNKNOWN__ 3 52870324 52870324 __UNKNOWN__ Intron SNP T T C rs4687662 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:52870324T>C ENST00000504329.1 - 9 991 NM_001198974.2 NP_001185903.2 TMEM110-MUSTN1 readthrough NA NA NA ATGTGGCACATGGGCCAAGAG 0.627 NA T||| 1357 0.270966 0.062 0.2334 5008 , , NA 18075 0.5427 NA 0.2435 False NA ,,, NA NA NA 2504 0.3282 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS56264.1 3p21.1 2011-03-17 ENSG00000248592 ENSG00000248592 100526772 38834 other readthrough NA Standard NM_001198974 NM_001198974 NA Approved uc003dgc.4 OTTHUMG00000160756 ENST00000504329.1:c.880-2559A>G chr3.hg19:g.52870324T>C NA hg19 CCDS56264.1 0.02 8.788365 ACAxGGG COVERED NOVEL TMEM110-MUSTN1-001 PUTATIVE basic|appris_principal|readthrough_transcript|CCDS protein_coding NA protein_coding OTTHUMT00000362140.1 0 16.241148 KEEP 0 0 0 54 1664 TT 1 1 0 - 14 60 494 0 0 34.027253 187 60 6851 318 ENST00000504329.1 0.069652 1 TMEM110 375346 __UNKNOWN__ __UNKNOWN__ 3 52874446 52874446 __UNKNOWN__ 3'UTR SNP C C T rs6769789 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:52874446C>T ENST00000355083.5 - 0 1094 TMEM110_ENST00000464769.1_5'UTR|TMEM110-MUSTN1_ENST00000504329.1_Intron NM_198563.2 NP_940965.1 Q86TL2 TM110_HUMAN transmembrane protein 110 NA NA integral component of membrane (GO:0016021) kidney(1)|large_intestine(1)|lung(2) 4 BRCA - Breast invasive adenocarcinoma(193;7.72e-05)|Kidney(197;0.000777)|KIRC - Kidney renal clear cell carcinoma(197;0.000915)|OV - Ovarian serous cystadenocarcinoma(275;0.0541) AACGATGCTGCGGGATGACCT 0.592 NA C||| 2345 0.468251 0.2118 0.4352 5008 , , NA 17428 0.628 NA 0.5944 False NA ,,, NA NA NA 2504 0.544 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC047015 CCDS2866.1 3p21.1 2010-08-13 ENSG00000213533 ENSG00000213533 375346 30526 protein-coding gene gene with protein product NA 12477932 Standard NM_198563 NM_198563 NA Approved MGC52022 Q86TL2 OTTHUMG00000150346 ENST00000355083.5:c.*64G>A chr3.hg19:g.52874446C>T NA hg19 CCDS2866.1 0.02 6.024624 CTGxGGG COVERED NOVEL TMEM110-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000352949.2 0 7.222675 KEEP 0 0 0 24 821 CC 0.999909 0.999909 0 - 20 60 671 0 0 49.050478 167 60 5780 225 ENST00000355083.5 0.106952 1 TMEM110 375346 __UNKNOWN__ __UNKNOWN__ 3 52874753 52874753 __UNKNOWN__ Intron SNP T T C rs56019197 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:52874753T>C ENST00000355083.5 - 8 914 TMEM110_ENST00000464769.1_Intron|TMEM110-MUSTN1_ENST00000504329.1_Intron NM_198563.2 NP_940965.1 Q86TL2 TM110_HUMAN transmembrane protein 110 NA NA integral component of membrane (GO:0016021) kidney(1)|large_intestine(1)|lung(2) 4 BRCA - Breast invasive adenocarcinoma(193;7.72e-05)|Kidney(197;0.000777)|KIRC - Kidney renal clear cell carcinoma(197;0.000915)|OV - Ovarian serous cystadenocarcinoma(275;0.0541) tctcaccctgtcacccaggct 0.527 NA T||| 2457 0.490615 0.2943 0.4409 5008 , , NA 12714 0.628 NA 0.5934 False NA ,,, NA NA NA 2504 0.544 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC047015 CCDS2866.1 3p21.1 2010-08-13 ENSG00000213533 ENSG00000213533 375346 30526 protein-coding gene gene with protein product NA 12477932 Standard NM_198563 NM_198563 NA Approved MGC52022 Q86TL2 OTTHUMG00000150346 ENST00000355083.5:c.769-127A>G chr3.hg19:g.52874753T>C NA hg19 CCDS2866.1 0.02 -0.271922 CTGxCAC COVERED NOVEL TMEM110-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000352949.2 2 2.407276 KEEP 0 0 0 8 250 TT 0.99257 0.711986 0 - 3 60 112 0 0 8.491459 25 60 908 40 ENST00000355083.5 0.107143 0.717315 SFMBT1 51460 __UNKNOWN__ __UNKNOWN__ 3 52938092 52938092 __UNKNOWN__ 3'UTR SNP C C G rs7626551 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:52938092C>G ENST00000394752.3 - 0 4043 NM_016329.3 NP_057413.2 Q9UHJ3 SMBT1_HUMAN Scm-like with four mbt domains 1 NA NA cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|negative regulation of muscle organ development (GO:0048635)|negative regulation of transcription, DNA-templated (GO:0045892)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) histone binding (GO:0042393)|transcription corepressor activity (GO:0003714) breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 24 BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113) GTTTTCTGTGCTGTGCTTCTA 0.458 NA C||| 2737 0.546526 0.4697 0.4712 5008 , , NA 19822 0.6071 NA 0.6233 False NA ,,, NA NA NA 2504 0.5624 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF168132 CCDS2867.1 3p21.31 2013-01-10 ENSG00000163935 ENSG00000163935 51460 Sterile alpha motif (SAM) domain containing 20255 protein-coding gene gene with protein product 607319 NA 10661410 Standard NM_016329 NM_016329 NA Approved RU1, DKFZp434L243, SFMBT uc003dgh.3 Q9UHJ3 OTTHUMG00000159052 ENST00000394752.3:c.*1060G>C chr3.hg19:g.52938092C>G NA Q402F7|Q96C73|Q9Y4Q9 hg19 CCDS2867.1 0.02 7.11504 GTGxTGT COVERED NOVEL SFMBT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000353040.3 0 11.136675 KEEP 0 0 0 37 1358 CC 1 1 0 - 10 60 369 0 0 25.293067 155 60 5860 241 ENST00000394752.3 0.060606 1 SFMBT1 51460 __UNKNOWN__ __UNKNOWN__ 3 52968726 52968726 __UNKNOWN__ Intron SNP T T C rs2257216 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:52968726T>C ENST00000394752.3 - 5 836 SFMBT1_ENST00000296295.6_Intron|SFMBT1_ENST00000394750.1_Intron|SFMBT1_ENST00000358080.2_Intron NM_016329.3 NP_057413.2 Q9UHJ3 SMBT1_HUMAN Scm-like with four mbt domains 1 NA NA cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|negative regulation of muscle organ development (GO:0048635)|negative regulation of transcription, DNA-templated (GO:0045892)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) histone binding (GO:0042393)|transcription corepressor activity (GO:0003714) breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 24 BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113) TCTCTAATAATAACGTTTATT 0.358 NA T||| 2814 0.561901 0.4818 0.5086 5008 , , NA 20023 0.6002 NA 0.659 False NA ,,, NA NA NA 2504 0.5685 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF168132 CCDS2867.1 3p21.31 2013-01-10 ENSG00000163935 ENSG00000163935 51460 Sterile alpha motif (SAM) domain containing 20255 protein-coding gene gene with protein product 607319 NA 10661410 Standard NM_016329 NM_016329 NA Approved RU1, DKFZp434L243, SFMBT uc003dgh.3 Q9UHJ3 OTTHUMG00000159052 ENST00000394752.3:c.453+102A>G chr3.hg19:g.52968726T>C NA Q402F7|Q96C73|Q9Y4Q9 hg19 CCDS2867.1 0.02 2.203289 TAAxAAC COVERED NOVEL SFMBT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000353040.3 0 3.008658 KEEP 0 0 0 10 298 TT 0.992708 0.991708 0 - 8 60 292 0 0 21.818071 70 60 2508 93 ENST00000394752.3 0.102564 0.998993 RP11-894J14.5 0 __UNKNOWN__ __UNKNOWN__ 3 53094194 53094194 __UNKNOWN__ Intron SNP C C A rs11712910 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:53094194C>A ENST00000607203.1 - 4 317 NA NA NA TTCAGTGCAACCATCTCTGGC 0.343 NA C||| 1410 0.28155 0.0613 0.281 5008 , , NA 18872 0.495 NA 0.2903 False NA ,,, NA NA NA 2504 0.3507 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000607203.1:c.75-12939G>T chr3.hg19:g.53094194C>A NA hg19 0.02 2.036459 CAAxCAT COVERED NOVEL RP11-894J14.5-003 KNOWN mRNA_start_NF|cds_start_NF|basic|appris_candidate|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000470877.1 2 4.213511 KEEP 0 0 0 14 491 CC 0.995343 0.995283 0 - 5 60 185 0 0 12.334748 92 60 3373 128 ENST00000607203.1 0.051546 0.99994 RP11-894J14.5 0 __UNKNOWN__ __UNKNOWN__ 3 53095879 53095879 __UNKNOWN__ Intron SNP C C T rs11923572 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:53095879C>T ENST00000607203.1 - 4 317 NA NA NA TCAGTTATTACCCACCAGTAA 0.358 NA C||| 2936 0.586262 0.5333 0.5202 5008 , , NA 18276 0.6508 NA 0.662 False NA ,,, NA NA NA 2504 0.5603 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000607203.1:c.75-14624G>A chr3.hg19:g.53095879C>T NA hg19 0.02 1.681211 TTAxCCA COVERED NOVEL RP11-894J14.5-003 KNOWN mRNA_start_NF|cds_start_NF|basic|appris_candidate|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000470877.1 1 3.912247 KEEP 0 0 0 13 438 CC 0.994391 0.994272 0 - 6 60 221 0 0 15.332606 86 60 3050 118 ENST00000607203.1 0.065217 0.999881 RP11-894J14.5 0 __UNKNOWN__ __UNKNOWN__ 3 53096047 53096047 __UNKNOWN__ Intron SNP A A G rs11915851 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:53096047A>G ENST00000607203.1 - 4 317 NA NA NA GATAGCAATGAGTGACACTGC 0.368 NA G||| 2936 0.586262 0.5333 0.5202 5008 , , NA 19255 0.6508 NA 0.662 False NA ,,, NA NA NA 2504 0.5603 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000607203.1:c.75-14792T>C chr3.hg19:g.53096047A>G NA hg19 0.02 6.780433 ATGxGTG COVERED NOVEL RP11-894J14.5-003 KNOWN mRNA_start_NF|cds_start_NF|basic|appris_candidate|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000470877.1 1 2.407301 KEEP 0 0 0 8 248 AA 0.99257 0.99257 0 - 14 60 512 0 0 36.919142 155 60 5669 183 ENST00000607203.1 0.08284 1 RP11-894J14.5 0 __UNKNOWN__ __UNKNOWN__ 3 53096230 53096230 __UNKNOWN__ Intron SNP C C T rs2581789 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:53096230C>T ENST00000607203.1 - 4 317 NA NA NA ATAGTCCTTACGGACTAAATT 0.383 NA T||| 2936 0.586262 0.5333 0.5202 5008 , , NA 19808 0.6508 NA 0.662 False NA ,,, NA NA NA 2504 0.5603 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000607203.1:c.75-14975G>A chr3.hg19:g.53096230C>T NA hg19 0.02 11.20409 TTAxGGA COVERED NOVEL RP11-894J14.5-003 KNOWN mRNA_start_NF|cds_start_NF|basic|appris_candidate|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000470877.1 4 7.22283 KEEP 0 0 0 24 812 CC 0.999909 0.999909 0 - 24 60 886 0 0 64.18727 264 60 9332 334 ENST00000607203.1 0.083333 1 CACNA1D 776 __UNKNOWN__ __UNKNOWN__ 3 53685039 53685039 __UNKNOWN__ Intron SNP T T C rs2276836 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:53685039T>C ENST00000422281.2 + 4 623 CACNA1D_ENST00000288139.4_Intron|CACNA1D_ENST00000350061.5_Intron NM_001128839.1 NP_001122311.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit NA NA adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281) plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018) alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059) breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661) TTTTAGGGAATGTGGTTGCTC 0.458 NA T||| 1681 0.335663 0.1505 0.3458 5008 , , NA 15067 0.5823 NA 0.2038 False NA ,,, NA NA NA 2504 0.4601 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB209171 CCDS2872.1, CCDS46848.1, CCDS46849.1 3p14.3 2012-03-07 ENSG00000157388 ENSG00000157388 776 Calcium channel subunits, Voltage-gated ion channels / Calcium channels 1391 protein-coding gene gene with protein product 114206 CCHL1A2, CACNL1A2 NA 1664412 Standard NM_000720 NM_000720 NA Approved Cav1.3, CACH3, CACN4 uc003dgu.5 Q01668 OTTHUMG00000158278 ENST00000422281.2:c.623+94T>C chr3.hg19:g.53685039T>C NA B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3 hg19 CCDS46849.1 0.02 1.962948 GAAxGTG COVERED NOVEL CACNA1D-002 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000350556.1 2 3.91177 KEEP 0 0 0 13 409 TT 0.994391 0.994299 0 + 4 60 146 0 0 9.327792 90 60 3252 126 ENST00000422281.2 0.042553 0.999907 IL17RB 55540 __UNKNOWN__ __UNKNOWN__ 3 53899276 53899276 __UNKNOWN__ Nonsense_Mutation SNP C C T rs1043261 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:53899276C>T ENST00000288167.3 + 11 1459 c.1450C>T c.(1450-1452)Cag>Tag p.Q484* NM_018725.3 NP_061195.2 Q9NRM6 I17RB_HUMAN interleukin 17 receptor B 484 NA Missing (in Ref. 2; AA sequence). {ECO:0000305}. cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|regulation of cell growth (GO:0001558) cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020) cytokine receptor activity (GO:0004896) breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1) 13 BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118) CCATGTCAAGCAGCAGGTGTC 0.498 NA C||| 677 0.135184 0.0915 0.1124 5008 , , NA 18766 0.2133 NA 0.0706 False NA ,,, NA NA NA 2504 0.1963 NA NA NA NA 0 GRCh37 CM067684 IL17RB M rs1043261 C stop/GLN 413,3993 204.5+/-226.7 23,367,1813 53 48 49 1450 2.9 0 3 dbSNP_86 49 679,7921 168.6+/-220.1 24,631,3645 yes stop-gained IL17RB NM_018725.3 47,998,5458 TT,TC,CC 7.8953,9.3736,8.3961 484/503 53899276 1092,11914 2203 4300 6503 SO:0001587 stop_gained AF212365 CCDS2874.1 3p21.1 2008-02-05 2003-07-09 ENSG00000056736 ENSG00000056736 55540 Interleukins and interleukin receptors 18015 protein-coding gene gene with protein product 605458 interleukin 17B receptor IL17BR NA 10749887, 10815801 Standard NM_172234 NM_018725 NA Approved IL17RH1, EVI27, CRL4 uc003dha.3 Q9NRM6 OTTHUMG00000158280 ENST00000288167.3:c.1450C>T chr3.hg19:g.53899276C>T ENSP00000288167:p.Gln484* NA Q9BPZ0|Q9NRL4|Q9NRM5 hg19 CCDS2874.1 0.02 3.914944 AAGxAGC COVERED 249 0.11401098901098901 67 0.13617886178861788 28 0.07734806629834254 101 0.17657342657342656 53 0.06992084432717678 C 33 5.223113 0.95139 0.093736 0.078953 ENSG00000056736 ENST00000288167 . . . 4.86 2.89 0.33648 . 0.609195 0.14041 N 0.345385 . . . . . . 0.21325 P 0.999720248 . . . . . . . . . . 0.15952 T 0.53 -1.9671 12.6995 0.57024 0.0:0.6843:0.3157:0.0 rs1043261;rs3172490;rs3774623;rs52833728;rs61401369;rs1043261 . . . X 484 . ENSP00000288167:Q484X Q + 1 0 IL17RB 53874316 0.000000 0.05858 0.012000 0.15200 0.820000 0.46376 0.401000 0.20948 1.348000 0.45733 0.650000 0.86243 CAG NOVEL IL17RB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000350563.1 2 3.310772 KEEP 0 0 0 11 387 CC 0.993072 0.993071 0 + 8 60 281 0 0 19.127197 113 60 4228 154 ENST00000288167.3 0.066116 0.999999 SELK 0 __UNKNOWN__ __UNKNOWN__ 3 53919321 53919321 __UNKNOWN__ 3'UTR SNP A A C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:53919321A>C ENST00000495461.1 - 0 748 SELK_ENST00000541726.1_3'UTR Q9Y6D0 SELK_HUMAN NA NA calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|macrophage derived foam cell differentiation (GO:0010742)|positive regulation of T cell migration (GO:2000406)|positive regulation of T cell proliferation (GO:0042102)|protein palmitoylation (GO:0018345)|regulation of protein transport (GO:0051223)|respiratory burst after phagocytosis (GO:0045728)|response to oxidative stress (GO:0006979) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) NA BRCA - Breast invasive adenocarcinoma(193;0.000146)|KIRC - Kidney renal clear cell carcinoma(284;0.00549)|Kidney(284;0.00619)|OV - Ovarian serous cystadenocarcinoma(275;0.113) atatttacttattaaaactat 0.318 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant NA NA NA NA ENST00000495461.1:c.*264T>G chr3.hg19:g.53919321A>C NA Q8IZQ3|Q9P085 hg19 CCDS54597.1 0.02 -0.421112 CTTxTTA COVERED NOVEL SELK-001 KNOWN basic|appris_candidate_longest|CCDS|seleno protein_coding NA protein_coding OTTHUMT00000351659.1 0 6.316707 KEEP 0 0 0 21 623 AA 0.999869 0.948278 0 - 4 60 157 0 0 11.629778 44 60 1614 79 ENST00000495461.1 0.083333 0.948402 CACNA2D3 55799 __UNKNOWN__ __UNKNOWN__ 3 54596967 54596967 __UNKNOWN__ Intron SNP A A C rs41277449 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:54596967A>C ENST00000474759.1 + 6 724 CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000288197.5_Intron NM_018398.2 NP_060868.2 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 3 NA NA integral component of membrane (GO:0016021) metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245) p.?(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421) GGGTGAGTATACCTGCATTGA 0.363 NA C||| 715 0.142772 0.3003 0.0994 5008 , , NA 20024 0.2054 NA 0.0119 False NA ,,, NA NA NA 2504 0.0307 NA NA NA NA 1 Unknown(1) stomach(1) C 894,2790 111,672,1059 101 91 95 -3.5 0 3 dbSNP_127 95 68,8114 0,68,4023 no intron CACNA2D3 NM_018398.2 111,740,5082 CC,CA,AA 0.8311,24.2671,8.1072 54596967 962,10904 1842 4091 5933 SO:0001627 intron_variant AJ272268 CCDS54598.1 3p21.1 2010-10-05 2008-02-26 ENSG00000157445 ENSG00000157445 55799 Calcium channel subunits 15460 protein-coding gene gene with protein product 606399 NA 11245980 Standard XM_005265318 NA Approved HSA272268 uc003dhf.3 Q8IZS8 OTTHUMG00000158580 ENST00000474759.1:c.676+9A>C chr3.hg19:g.54596967A>C NA B2RPL6|Q9NY16|Q9NY18 hg19 CCDS54598.1 0.02 13.549609 TATxCCT COVERED NOVEL CACNA2D3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000351402.1 1 9.026153 KEEP 0 0 0 30 899 AA 0.999997 0.999997 0 + 14 60 501 0 0 31.675307 314 60 10945 436 ENST00000474759.1 0.042683 1 CACNA2D3 55799 __UNKNOWN__ __UNKNOWN__ 3 54905685 54905685 __UNKNOWN__ Intron SNP C C G rs1882317 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:54905685C>G ENST00000474759.1 + 18 1758 CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000288197.5_Intron NM_018398.2 NP_060868.2 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 3 NA NA integral component of membrane (GO:0016021) metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245) NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421) TGGAGAAGGACCTGCATTGTA 0.552 NA G||| 674 0.134585 0.2799 0.0375 5008 , , NA 17835 0.0923 NA 0.0298 False NA ,,, NA NA NA 2504 0.1585 NA NA NA NA 0 G 894,3044 100,694,1175 136 132 133 0.9 0 3 dbSNP_92 133 206,8104 5,196,3954 no intron CACNA2D3 NM_018398.2 105,890,5129 GG,GC,CC 2.4789,22.7019,8.9811 54905685 1100,11148 1969 4155 6124 SO:0001627 intron_variant AJ272268 CCDS54598.1 3p21.1 2010-10-05 2008-02-26 ENSG00000157445 ENSG00000157445 55799 Calcium channel subunits 15460 protein-coding gene gene with protein product 606399 NA 11245980 Standard XM_005265318 NA Approved HSA272268 uc003dhf.3 Q8IZS8 OTTHUMG00000158580 ENST00000474759.1:c.1710+36C>G chr3.hg19:g.54905685C>G NA B2RPL6|Q9NY16|Q9NY18 hg19 CCDS54598.1 0.02 4.965867 GGAxCTG COVERED NOVEL CACNA2D3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000351402.1 0 5.717135 KEEP 0 0 0 19 638 CC 0.99986 0.999856 0 + 7 60 251 0 0 16.995763 108 60 3905 143 ENST00000474759.1 0.06087 0.999997 CACNA2D3 55799 __UNKNOWN__ __UNKNOWN__ 3 54919480 54919480 __UNKNOWN__ Intron SNP G G A rs2293662 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:54919480G>A ENST00000474759.1 + 23 2006 CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000288197.5_Intron NM_018398.2 NP_060868.2 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 3 NA NA integral component of membrane (GO:0016021) metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245) NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421) TGTAAATATTGACATGCTCTT 0.478 NA G||| 613 0.122404 0.1339 0.1124 5008 , , NA 22293 0.0625 NA 0.1252 False NA ,,, NA NA NA 2504 0.1728 NA NA NA NA 0 G 522,3568 33,456,1556 99 91 94 -6.6 0 3 dbSNP_100 94 1158,7270 72,1014,3128 no intron CACNA2D3 NM_018398.2 105,1470,4684 AA,AG,GG 13.7399,12.7628,13.4207 54919480 1680,10838 2045 4214 6259 SO:0001627 intron_variant AJ272268 CCDS54598.1 3p21.1 2010-10-05 2008-02-26 ENSG00000157445 ENSG00000157445 55799 Calcium channel subunits 15460 protein-coding gene gene with protein product 606399 NA 11245980 Standard XM_005265318 NA Approved HSA272268 uc003dhf.3 Q8IZS8 OTTHUMG00000158580 ENST00000474759.1:c.1959-36G>A chr3.hg19:g.54919480G>A NA B2RPL6|Q9NY16|Q9NY18 hg19 CCDS54598.1 0.02 10.824875 ATTxACA COVERED NOVEL CACNA2D3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000351402.1 2 10.533738 KEEP 0 0 0 35 1206 GG 0.999999 0.999999 0 + 19 60 679 0 0 47.316257 245 60 9093 328 ENST00000474759.1 0.07197 1 CACNA2D3 55799 __UNKNOWN__ __UNKNOWN__ 3 54930794 54930794 __UNKNOWN__ Silent SNP C C T rs17054524 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:54930794C>T ENST00000474759.1 + 26 2313 c.2265C>T c.(2263-2265)ggC>ggT p.G755G CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000415676.2_Silent_p.G755G|CACNA2D3_ENST00000490478.1_Silent_p.G661G|CACNA2D3_ENST00000288197.5_Silent_p.G755G NM_018398.2 NP_060868.2 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 3 755 NA integral component of membrane (GO:0016021) metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245) NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421) TGAAAGCTGGCGACAAGGAGA 0.512 NA C||| 590 0.117812 0.1293 0.111 5008 , , NA 19156 0.0536 NA 0.1272 False NA ,,, NA NA NA 2504 0.1636 NA NA NA NA 0 C 496,3476 26,444,1516 132 133 132 2265 0.6 1 3 dbSNP_123 132 1146,7166 72,1002,3082 no coding-synonymous CACNA2D3 NM_018398.2 98,1446,4598 TT,TC,CC 13.7873,12.4874,13.367 755/1092 54930794 1642,10642 1986 4156 6142 SO:0001819 synonymous_variant AJ272268 CCDS54598.1 3p21.1 2010-10-05 2008-02-26 ENSG00000157445 ENSG00000157445 55799 Calcium channel subunits 15460 protein-coding gene gene with protein product 606399 NA 11245980 Standard XM_005265318 NA Approved HSA272268 uc003dhf.3 Q8IZS8 OTTHUMG00000158580 ENST00000474759.1:c.2265C>T chr3.hg19:g.54930794C>T NA B2RPL6|Q9NY16|Q9NY18 hg19 CCDS54598.1 0.02 5.849911 TGGxGAC COVERED NOVEL CACNA2D3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000351402.1 0 14.447005 KEEP 0 0 0 48 1699 CC 1 1 0 + 6 60 205 0 0 12.43064 144 60 5111 259 ENST00000474759.1 0.04 1 CACNA2D3 55799 __UNKNOWN__ __UNKNOWN__ 3 54933763 54933763 __UNKNOWN__ Intron SNP G G A rs41277455 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:54933763G>A ENST00000474759.1 + 27 2416 CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000288197.5_Intron NM_018398.2 NP_060868.2 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 3 NA NA integral component of membrane (GO:0016021) metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245) NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421) CTCTCTTAACGTGTACACTGT 0.443 NA G||| 537 0.107228 0.1188 0.0893 5008 , , NA 20366 0.0546 NA 0.1024 False NA ,,, NA NA NA 2504 0.1636 NA NA NA NA 0 G 156,1228 8,140,544 129 100 109 -4.4 0 3 dbSNP_127 109 372,2810 23,326,1242 no intron CACNA2D3 NM_018398.2 31,466,1786 AA,AG,GG 11.6908,11.2717,11.5637 54933763 528,4038 692 1591 2283 SO:0001627 intron_variant AJ272268 CCDS54598.1 3p21.1 2010-10-05 2008-02-26 ENSG00000157445 ENSG00000157445 55799 Calcium channel subunits 15460 protein-coding gene gene with protein product 606399 NA 11245980 Standard XM_005265318 NA Approved HSA272268 uc003dhf.3 Q8IZS8 OTTHUMG00000158580 ENST00000474759.1:c.2369-52G>A chr3.hg19:g.54933763G>A NA B2RPL6|Q9NY16|Q9NY18 hg19 CCDS54598.1 0.02 4.443766 AACxTGT COVERED NOVEL CACNA2D3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000351402.1 1 6.018684 KEEP 0 0 0 20 658 GG 0.999863 0.999862 0 + 6 60 213 0 0 13.639454 123 60 4032 160 ENST00000474759.1 0.046512 1 CACNA2D3 55799 __UNKNOWN__ __UNKNOWN__ 3 54952230 54952230 __UNKNOWN__ Intron SNP A A G rs941050 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:54952230A>G ENST00000474759.1 + 27 2497 CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000288197.5_Intron NM_018398.2 NP_060868.2 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 3 NA NA integral component of membrane (GO:0016021) metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245) NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421) TTACCCCCACATAGAATCGTC 0.393 NA A||| 661 0.131989 0.1536 0.111 5008 , , NA 16358 0.0952 NA 0.1223 False NA ,,, NA NA NA 2504 0.1656 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ272268 CCDS54598.1 3p21.1 2010-10-05 2008-02-26 ENSG00000157445 ENSG00000157445 55799 Calcium channel subunits 15460 protein-coding gene gene with protein product 606399 NA 11245980 Standard XM_005265318 NA Approved HSA272268 uc003dhf.3 Q8IZS8 OTTHUMG00000158580 ENST00000474759.1:c.2449+18335A>G chr3.hg19:g.54952230A>G NA B2RPL6|Q9NY16|Q9NY18 hg19 CCDS54598.1 0.02 11.07653 CACxTAG COVERED NOVEL CACNA2D3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000351402.1 0 14.44257 KEEP 0 0 0 48 1518 AA 1 1 0 + 11 60 396 0 0 25.114011 247 60 9169 387 ENST00000474759.1 0.042636 1 CACNA2D3 55799 __UNKNOWN__ __UNKNOWN__ 3 55003733 55003733 __UNKNOWN__ Intron SNP G G T rs881820 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:55003733G>T ENST00000474759.1 + 29 2559 CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000288197.5_Intron NM_018398.2 NP_060868.2 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 3 NA NA integral component of membrane (GO:0016021) metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245) NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421) GACTTGGATAGCTTGTCCTTA 0.433 NA G||| 1981 0.395567 0.025 0.5346 5008 , , NA 20138 0.5565 NA 0.4732 False NA ,,, NA NA NA 2504 0.5521 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ272268 CCDS54598.1 3p21.1 2010-10-05 2008-02-26 ENSG00000157445 ENSG00000157445 55799 Calcium channel subunits 15460 protein-coding gene gene with protein product 606399 NA 11245980 Standard XM_005265318 NA Approved HSA272268 uc003dhf.3 Q8IZS8 OTTHUMG00000158580 ENST00000474759.1:c.2512-94G>T chr3.hg19:g.55003733G>T NA B2RPL6|Q9NY16|Q9NY18 hg19 CCDS54598.1 0.02 8.662402 ATAxCTT COVERED NOVEL CACNA2D3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000351402.1 1 9.932295 KEEP 0 0 0 33 1176 GG 0.999998 0.999998 0 + 7 60 259 0 0 16.006864 197 60 7526 280 ENST00000474759.1 0.034314 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 56591178 56591178 __UNKNOWN__ IGR SNP A A G rs73079891 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:56591178A>G NA NA ERC2 (88787 upstream) : CCDC66 (22 downstream) NA NA NA CGGCACCCCTATATCCAATTG 0.652 NA A||| 958 0.191294 0.0719 0.2594 5008 , , NA 13831 0.0486 NA 0.4771 False NA ,,, NA NA NA 2504 0.1575 NA NA NA NA 0 A 204,1180 11,182,499 39 40 40 -0.2 0 3 dbSNP_130 40 1523,1659 361,801,429 no near-gene-5 372,983,928 GG,GA,AA 47.863,14.7399,37.823 56591178 1727,2839 692 1591 2283 SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.56591178A>G NA hg19 0.02 4.570257 CCTxTAT COVERED NOVEL 0 1 12.333415 KEEP 0 0 0 41 1218 AA 1 1 0 6 60 238 0 0 15.747753 143 60 4843 213 0.040268 1 CCDC66 285331 __UNKNOWN__ __UNKNOWN__ 3 56597688 56597688 __UNKNOWN__ Intron SNP A A G rs6781293 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:56597688A>G ENST00000394672.3 + 4 172 CCDC66_ENST00000538560.1_Intron|CCDC66_ENST00000442522.2_Intron|CCDC66_ENST00000326595.7_Intron|CCDC66_ENST00000436465.2_Intron NM_001012506.4|NM_001141947.1 NP_001012524.4|NP_001135419.1 A2RUB6 CCD66_HUMAN coiled-coil domain containing 66 NA NA post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|retinal rod cell development (GO:0046548) breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233) AGTTATAAAGAATAAGCTTCT 0.308 NA A||| 959 0.191494 0.0719 0.2594 5008 , , NA 15952 0.0496 NA 0.4771 False NA ,,, NA NA NA 2504 0.1575 NA NA NA NA 0 A , 204,1180 11,182,499 41 35 37 , 3.8 0.1 3 dbSNP_116 37 1521,1659 361,799,430 no intron,intron CCDC66 NM_001012506.4,NM_001141947.1 , 372,981,929 GG,GA,AA 47.8302,14.7399,37.7958 , , 56597688 1725,2839 692 1590 2282 SO:0001627 intron_variant AL832692 CCDS33770.2, CCDS46852.1 3p14.3 2006-03-27 ENSG00000180376 ENSG00000180376 285331 27709 protein-coding gene gene with protein product NA 14702039 Standard NM_001012506 NR_024460 NA Approved DKFZp686C0433 uc003dhz.3 A2RUB6 OTTHUMG00000155748 ENST00000394672.3:c.103-24A>G chr3.hg19:g.56597688A>G NA B3KWL8|Q4VC34|Q8N949 hg19 CCDS46852.1 0.02 1.669236 AAGxATA COVERED NOVEL CCDC66-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000341473.1 2 3.009567 KEEP 0 0 0 10 333 AA 0.992708 0.992119 0 + 4 60 137 0 0 8.671618 78 60 2789 99 ENST00000394672.3 0.04878 0.999407 CCDC66 285331 __UNKNOWN__ __UNKNOWN__ 3 56599159 56599159 __UNKNOWN__ Intron SNP T T C rs73081810 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:56599159T>C ENST00000394672.3 + 4 614 CCDC66_ENST00000538560.1_Intron|CCDC66_ENST00000442522.2_Intron|CCDC66_ENST00000326595.7_Intron|CCDC66_ENST00000436465.2_Intron NM_001012506.4|NM_001141947.1 NP_001012524.4|NP_001135419.1 A2RUB6 CCD66_HUMAN coiled-coil domain containing 66 NA NA post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|retinal rod cell development (GO:0046548) breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233) TTTGATATTATAGCTGGGCAT 0.333 NA T||| 1077 0.215056 0.0741 0.2839 5008 , , NA 15630 0.0486 NA 0.5388 False NA ,,, NA NA NA 2504 0.1953 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL832692 CCDS33770.2, CCDS46852.1 3p14.3 2006-03-27 ENSG00000180376 ENSG00000180376 285331 27709 protein-coding gene gene with protein product NA 14702039 Standard NM_001012506 NR_024460 NA Approved DKFZp686C0433 uc003dhz.3 A2RUB6 OTTHUMG00000155748 ENST00000394672.3:c.544+1006T>C chr3.hg19:g.56599159T>C NA B3KWL8|Q4VC34|Q8N949 hg19 CCDS46852.1 0.02 6.601908 TTAxAGC COVERED NOVEL CCDC66-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000341473.1 0 11.133716 KEEP 0 0 0 37 1170 TT 1 1 0 + 6 60 230 0 0 14.471866 172 60 6220 267 ENST00000394672.3 0.033708 1 CCDC66 285331 __UNKNOWN__ __UNKNOWN__ 3 56599208 56599208 __UNKNOWN__ Intron SNP G G C rs55831745 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:56599208G>C ENST00000394672.3 + 4 614 CCDC66_ENST00000538560.1_Intron|CCDC66_ENST00000442522.2_Intron|CCDC66_ENST00000326595.7_Intron|CCDC66_ENST00000436465.2_Intron NM_001012506.4|NM_001141947.1 NP_001012524.4|NP_001135419.1 A2RUB6 CCD66_HUMAN coiled-coil domain containing 66 NA NA post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|retinal rod cell development (GO:0046548) breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233) TGATTTCACAGCTAAATAAGA 0.299 NA G||| 1076 0.214856 0.0734 0.2839 5008 , , NA 16022 0.0486 NA 0.5398 False NA ,,, NA NA NA 2504 0.1943 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL832692 CCDS33770.2, CCDS46852.1 3p14.3 2006-03-27 ENSG00000180376 ENSG00000180376 285331 27709 protein-coding gene gene with protein product NA 14702039 Standard NM_001012506 NR_024460 NA Approved DKFZp686C0433 uc003dhz.3 A2RUB6 OTTHUMG00000155748 ENST00000394672.3:c.544+1055G>C chr3.hg19:g.56599208G>C NA B3KWL8|Q4VC34|Q8N949 hg19 CCDS46852.1 0.02 3.883098 ACAxCTA COVERED NOVEL CCDC66-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000341473.1 1 6.92263 KEEP 0 0 0 23 816 GG 0.999892 0.999892 0 + 5 60 176 0 0 10.687962 131 60 4933 175 ENST00000394672.3 0.036765 1 CCDC66 285331 __UNKNOWN__ __UNKNOWN__ 3 56628031 56628031 __UNKNOWN__ Missense_Mutation SNP G G A rs7637449 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:56628031G>A ENST00000394672.3 + 10 1449 c.1379G>A c.(1378-1380)cGa>cAa p.R460Q CCDC66_ENST00000436465.2_Missense_Mutation_p.R460Q|CCDC66_ENST00000326595.7_Missense_Mutation_p.R426Q NM_001012506.4|NM_001141947.1 NP_001012524.4|NP_001135419.1 A2RUB6 CCD66_HUMAN coiled-coil domain containing 66 460 NA R -> Q (in dbSNP:rs7637449). {ECO:0000269|PubMed:15489334}. post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|retinal rod cell development (GO:0046548) breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233) CGAGACAGACGACGACAAAAA 0.378 NA G||| 1077 0.215056 0.0741 0.2839 5008 , , NA 20188 0.0486 NA 0.5388 False NA ,,, NA NA NA 2504 0.1953 NA NA NA NA 0 G GLN/ARG,GLN/ARG 678,3728 287.2+/-279.2 66,546,1591 181 169 173 1277,1379 5.8 0.9 3 dbSNP_116 173 4621,3979 600.5+/-394.2 1241,2139,920 yes missense,missense CCDC66 NM_001012506.4,NM_001141947.1 43,43 1307,2685,2511 AA,AG,GG 46.2674,15.3881,40.7427 probably-damaging,probably-damaging 426/915,460/949 56628031 5299,7707 2203 4300 6503 SO:0001583 missense AL832692 CCDS33770.2, CCDS46852.1 3p14.3 2006-03-27 ENSG00000180376 ENSG00000180376 285331 27709 protein-coding gene gene with protein product NA 14702039 Standard NM_001012506 NR_024460 NA Approved DKFZp686C0433 uc003dhz.3 A2RUB6 OTTHUMG00000155748 ENST00000394672.3:c.1379G>A chr3.hg19:g.56628031G>A ENSP00000378167:p.Arg460Gln NA B3KWL8|Q4VC34|Q8N949 hg19 CCDS46852.1 0.02 26.288748 GACxACG COVERED 617 0.2825091575091575 42 0.08536585365853659 118 0.3259668508287293 34 0.05944055944055944 423 0.558047493403694 G 29.8 5.038495 0.93630 0.153881 0.537326 ENSG00000180376 ENST00000422222;ENST00000394672;ENST00000326595;ENST00000436465 T;T;T;T 0.55930 0.49;0.49;0.49;0.49 5.81 5.81 0.92471 . 0.000000 0.85682 D 0.000000 T 0.00012 0.0000 M 0.66939 2.045 0.09310 P 1.0 D 0.89917 1.0 D 0.91635 0.999 T 0.51521 -0.8695 9 0.72032 D 0.01 -9.6521 17.8518 0.88748 0.0:0.0:1.0:0.0 rs7637449;rs52797312;rs58163850;rs7637449 460 A2RUB6 CCD66_HUMAN Q 416;460;426;460 ENSP00000401451:R416Q;ENSP00000378167:R460Q;ENSP00000326050:R426Q;ENSP00000404320:R460Q ENSP00000326050:R426Q R + 2 0 CCDC66 56603071 0.998000 0.40836 0.875000 0.34327 0.968000 0.65278 4.880000 0.63107 2.739000 0.93911 0.585000 0.79938 CGA NOVEL CCDC66-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000341473.1 3 26.242779 KEEP 0 2 68 111 3718 GG 1 1 0 + 20 60 699 0 0 40.453164 648 60 23568 952 ENST00000394672.3 0.02994 1 FAM208A 23272 __UNKNOWN__ __UNKNOWN__ 3 56717095 56717095 __UNKNOWN__ 5'UTR SNP A A G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:56717095A>G ENST00000355628.5 - 0 170 Q9UK61 F208A_HUMAN family with sequence similarity 208, member A NA NA poly(A) RNA binding (GO:0044822) NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1) 32 TGTGGGGGGAAGGGGCGGCGG 0.721 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF180425 CCDS2877.1, CCDS46853.1 3p14.3 2011-09-14 2011-09-14 2011-09-14 ENSG00000163946 ENSG00000163946 23272 30314 protein-coding gene gene with protein product chromosome 3 open reading frame 63 C3orf63 NA 10470851, 11149944 Standard NM_015224 NM_015224 NA Approved se89-1, RAP140, KIAA1105 uc003die.4 Q9UK61 OTTHUMG00000158827 ENST00000355628.5:c.-61T>C chr3.hg19:g.56717095A>G NA A1L3A4|B5ME28|Q9H2F7|Q9UPP7 hg19 0.02 0.772051 GGAxGGG COVERED NOVEL FAM208A-003 KNOWN basic protein_coding NA protein_coding OTTHUMT00000352342.2 0 5.478601 KEEP 0 2 56 38 1099 AA 1 0.990964 0 - 12 60 178 0 2 10.93693 45 60 1451 139 ENST00000355628.5 0.210526 0.990964 ARHGEF3 50650 __UNKNOWN__ __UNKNOWN__ 3 56916456 56916456 __UNKNOWN__ Intron SNP C C A rs12496441 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:56916456C>A ENST00000338458.4 - 4 239 ARHGEF3_ENST00000496106.1_Intron|ARHGEF3_ENST00000498517.1_Intron NM_001128615.1 NP_001122087.1 Q9NR81 ARHG3_HUMAN Rho guanine nucleotide exchange factor (GEF) 3 NA NA apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829)|intracellular (GO:0005622) Rho guanyl-nucleotide exchange factor activity (GO:0005089) cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1) 25 KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193) AGAAAAAAAGCAATCAAATAG 0.333 NA C||| 414 0.0826677 0.0643 0.1542 5008 , , NA 19632 0.1766 NA 0.0099 False NA ,,, NA NA NA 2504 0.0348 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB209661 CCDS2878.1, CCDS46854.1, CCDS46855.1, CCDS74948.1 3p14.3 2012-09-20 ENSG00000163947 ENSG00000163947 50650 Rho guanine nucleotide exchange factors 683 protein-coding gene gene with protein product exchange factor found in platelets and leukemic and neuronal tissues, XPLN, RhoGEF protein 612115 NA 10873612 Standard NM_019555 NM_019555 NA Approved STA3, XPLN, GEF3, DKFZP434F2429 uc003dih.2 Q9NR81 OTTHUMG00000158857 ENST00000338458.4:c.130-74G>T chr3.hg19:g.56916456C>A NA A8K5U7|Q4FZB6|Q4QQI5|Q4QQQ0|Q59F00|Q6NUN3|Q7Z4U2|Q7Z5T2|Q9H7T4 hg19 CCDS46854.1 0.02 4.680371 AAGxAAT COVERED NOVEL ARHGEF3-002 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000352432.2 0 5.718767 KEEP 0 0 0 19 682 CC 0.99986 0.999833 0 - 6 60 222 1 0 15.155257 96 60 3631 123 ENST00000338458.4 0.058824 0.999973 ARHGEF3 50650 __UNKNOWN__ __UNKNOWN__ 3 56932708 56932708 __UNKNOWN__ Intron SNP G G A rs7633179 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:56932708G>A ENST00000338458.4 - 4 239 ARHGEF3_ENST00000496106.1_Intron|ARHGEF3_ENST00000498517.1_Intron NM_001128615.1 NP_001122087.1 Q9NR81 ARHG3_HUMAN Rho guanine nucleotide exchange factor (GEF) 3 NA NA apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829)|intracellular (GO:0005622) Rho guanyl-nucleotide exchange factor activity (GO:0005089) cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1) 25 KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193) aaggagggaagccaataaaga 0.507 NA G||| 3566 0.712061 0.8926 0.6945 5008 , , NA 17152 0.4712 NA 0.7734 False NA ,,, NA NA NA 2504 0.6656 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB209661 CCDS2878.1, CCDS46854.1, CCDS46855.1, CCDS74948.1 3p14.3 2012-09-20 ENSG00000163947 ENSG00000163947 50650 Rho guanine nucleotide exchange factors 683 protein-coding gene gene with protein product exchange factor found in platelets and leukemic and neuronal tissues, XPLN, RhoGEF protein 612115 NA 10873612 Standard NM_019555 NM_019555 NA Approved STA3, XPLN, GEF3, DKFZP434F2429 uc003dih.2 Q9NR81 OTTHUMG00000158857 ENST00000338458.4:c.130-16326C>T chr3.hg19:g.56932708G>A NA A8K5U7|Q4FZB6|Q4QQI5|Q4QQQ0|Q59F00|Q6NUN3|Q7Z4U2|Q7Z5T2|Q9H7T4 hg19 CCDS46854.1 0.02 -0.43866 GAAxCCA COVERED NOVEL ARHGEF3-002 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000352432.2 1 2.708802 KEEP 0 0 0 9 315 GG 0.99254 0.952699 0 - 3 60 109 0 0 7.404263 47 60 1734 62 ENST00000338458.4 0.06 0.959859 IL17RD 54756 __UNKNOWN__ __UNKNOWN__ 3 57168273 57168273 __UNKNOWN__ Intron SNP T T C rs6803905 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:57168273T>C ENST00000296318.7 - 2 215 IL17RD_ENST00000463523.1_Intron|IL17RD_ENST00000320057.5_Intron|IL17RD_ENST00000479825.1_Intron|IL17RD_ENST00000427856.2_Intron NM_017563.3 NP_060033.3 Q8NFM7 I17RD_HUMAN interleukin 17 receptor D NA NA signal transduction (GO:0007165) Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1) 16 KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204) AATGCCAACTTCCATCAGCAG 0.512 NA C||| 1913 0.381989 0.4796 0.3963 5008 , , NA 19472 0.5466 NA 0.1759 False NA ,,, NA NA NA 2504 0.2822 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF494208 CCDS2880.2 3p21.1 2008-02-05 ENSG00000144730 ENSG00000144730 54756 Interleukins and interleukin receptors 17616 protein-coding gene gene with protein product 606807 NA 11802164, 12604616 Standard NM_017563 NM_017563 NA Approved SEF, IL17RLM, FLJ35755, IL-17RD uc003dil.3 Q8NFM7 OTTHUMG00000150171 ENST00000296318.7:c.127-13932A>G chr3.hg19:g.57168273T>C NA Q2NKP7|Q58EZ7|Q6RVF4|Q6UWI5|Q8N113|Q8NFS0|Q9UFA0 hg19 CCDS2880.2 0.02 -0.218981 ACTxCCA COVERED NOVEL IL17RD-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000316680.1 0 3.008637 KEEP 0 0 0 10 303 TT 0.992708 0.548856 0 - 8 60 288 0 0 25.817436 17 60 595 42 ENST00000296318.7 0.32 0.552887 IL17RD 54756 __UNKNOWN__ __UNKNOWN__ 3 57168341 57168341 __UNKNOWN__ Intron SNP C C T rs6788981 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:57168341C>T ENST00000296318.7 - 2 215 IL17RD_ENST00000463523.1_Intron|IL17RD_ENST00000320057.5_Intron|IL17RD_ENST00000479825.1_Intron|IL17RD_ENST00000427856.2_Intron NM_017563.3 NP_060033.3 Q8NFM7 I17RD_HUMAN interleukin 17 receptor D NA NA signal transduction (GO:0007165) Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1) 16 KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204) TTTCCATTCCCGGGCTTGATG 0.512 NA C||| 1615 0.322484 0.4713 0.3458 5008 , , NA 22019 0.3819 NA 0.1402 False NA ,,, NA NA NA 2504 0.2311 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF494208 CCDS2880.2 3p21.1 2008-02-05 ENSG00000144730 ENSG00000144730 54756 Interleukins and interleukin receptors 17616 protein-coding gene gene with protein product 606807 NA 11802164, 12604616 Standard NM_017563 NM_017563 NA Approved SEF, IL17RLM, FLJ35755, IL-17RD uc003dil.3 Q8NFM7 OTTHUMG00000150171 ENST00000296318.7:c.127-14000G>A chr3.hg19:g.57168341C>T NA Q2NKP7|Q58EZ7|Q6RVF4|Q6UWI5|Q8N113|Q8NFS0|Q9UFA0 hg19 CCDS2880.2 0.02 -0.166672 TCCxGGG COVERED NOVEL IL17RD-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000316680.1 0 2.407836 KEEP 0 0 0 8 279 CC 0.99257 0.351317 0 - 3 60 111 0 0 8.932816 16 60 550 39 ENST00000296318.7 0.157895 0.353947 SLMAP 7871 __UNKNOWN__ __UNKNOWN__ 3 57882601 57882601 __UNKNOWN__ Splice_Site SNP C C T rs17058639 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:57882601C>T ENST00000295951.3 + 15 2558 c.1341C>T c.(1339-1341)gaC>gaT p.D447D SLMAP_ENST00000295952.3_Splice_Site_p.D447D|SLMAP_ENST00000428312.1_Splice_Site_p.D464D|SLMAP_ENST00000449503.2_Splice_Site_p.D426D|SLMAP_ENST00000472546.1_3'UTR|SLMAP_ENST00000383718.3_Splice_Site_p.D460D|SLMAP_ENST00000495364.1_5'UTR|SLMAP_ENST00000442599.2_5'UTR|SLMAP_ENST00000416870.1_5'UTR|SLMAP_ENST00000494088.1_5'UTR Q14BN4 SLMAP_HUMAN sarcolemma associated protein 464 NA muscle contraction (GO:0006936) cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|smooth endoplasmic reticulum (GO:0005790) endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2) 18 BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182) TCTCTGTAGACGCCCAAATGG 0.348 NA C||| 1500 0.299521 0.1218 0.3429 5008 , , NA 18552 0.4752 NA 0.2654 False NA ,,, NA NA NA 2504 0.363 NA NA NA NA 0 C 661,3745 283.4+/-277.1 51,559,1593 134 136 135 1341 2.5 1 3 dbSNP_123 135 2081,6519 359.9+/-331.7 256,1569,2475 yes coding-synonymous-near-splice SLMAP NM_007159.2 307,2128,4068 TT,TC,CC 24.1977,15.0023,21.0826 447/812 57882601 2742,10264 2203 4300 6503 SO:0001630 splice_region_variant AF100750 CCDS33774.1 3p21.2-p14.3 2008-07-18 ENSG00000163681 ENSG00000163681 7871 16643 protein-coding gene gene with protein product Sarcolemmal-associated protein 602701 NA 9405447, 11042152 Standard NM_007159 NM_007159 NA Approved SLAP, KIAA1601 uc003djd.1 Q14BN4 OTTHUMG00000133764 ENST00000295951.3:c.1340-1C>T chr3.hg19:g.57882601C>T NA Q14C95|Q6AI54|Q6UXC9|Q6ZVQ8|Q8NCW9|Q9H297|Q9HCH1|Q9Y681 hg19 CCDS33774.1 0.02 20.651934 AGAxGCC COVERED 682|682 0.31227106227106227|0.31227106227106227 65|65 0.13211382113821138|0.13211382113821138 123|123 0.3397790055248619|0.3397790055248619 278|278 0.486013986013986|0.486013986013986 216|216 0.2849604221635884|0.2849604221635884 C|C 12.22|12.22 1.873458|1.873458 0.33069|0.33069 0.150023|0.150023 0.241977|0.241977 ENSG00000163681|ENSG00000163681 ENST00000416658;ENST00000438794|ENST00000417128 .|. .|. .|. 6.17|6.17 2.48|2.48 0.30137|0.30137 .|. .|. .|. .|. .|. T|T 0.00012|0.00012 0.0000|0.0000 .|. .|. .|. 0.09310|0.09310 P|P 0.999999999999999|0.999999999999999 .|. .|. .|. .|. .|. .|. T|T 0.48758|0.48758 -0.9007|-0.9007 3|3 .|. .|. .|. .|. 9.5685|9.5685 0.39414|0.39414 0.0:0.6048:0.0:0.3951|0.0:0.6048:0.0:0.3951 rs17058639;rs59762822;rs17058639|rs17058639;rs59762822;rs17058639 .|. .|. .|. C|M 72;43|48 .|. .|. R|T +|+ 1|2 0|0 SLMAP|SLMAP 57857641|57857641 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.835000|0.835000 0.47333|0.47333 0.831000|0.831000 0.27476|0.27476 0.191000|0.191000 0.20236|0.20236 -0.140000|-0.140000 0.14226|0.14226 CGC|ACG NOVEL SLMAP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000258230.1 5 38.506285 KEEP 0 0 0 128 4333 CC 1 1 0 Silent + 26 60 970 0 0 65.445286 457 60 16546 780 ENST00000295951.3 0.05383 1 SLMAP 7871 __UNKNOWN__ __UNKNOWN__ 3 57882870 57882870 __UNKNOWN__ Intron SNP C C T rs3773017 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:57882870C>T ENST00000295951.3 + 15 2616 SLMAP_ENST00000295952.3_Intron|SLMAP_ENST00000428312.1_Intron|SLMAP_ENST00000449503.2_Intron|SLMAP_ENST00000472546.1_Intron|SLMAP_ENST00000383718.3_3'UTR|SLMAP_ENST00000495364.1_Intron|SLMAP_ENST00000442599.2_Intron|SLMAP_ENST00000416870.1_Intron|SLMAP_ENST00000494088.1_Intron Q14BN4 SLMAP_HUMAN sarcolemma associated protein NA NA muscle contraction (GO:0006936) cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|smooth endoplasmic reticulum (GO:0005790) endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2) 18 BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182) GTCAAGATTACGAGGGACAAA 0.313 NA C||| 25 0.00499201 0.0 0.0 5008 , , NA 17624 0.0228 NA 0.0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF100750 CCDS33774.1 3p21.2-p14.3 2008-07-18 ENSG00000163681 ENSG00000163681 7871 16643 protein-coding gene gene with protein product Sarcolemmal-associated protein 602701 NA 9405447, 11042152 Standard NM_007159 NM_007159 NA Approved SLAP, KIAA1601 uc003djd.1 Q14BN4 OTTHUMG00000133764 ENST00000295951.3:c.1399+211C>T chr3.hg19:g.57882870C>T NA Q14C95|Q6AI54|Q6UXC9|Q6ZVQ8|Q8NCW9|Q9H297|Q9HCH1|Q9Y681 hg19 CCDS33774.1 0.02 9.337765 TTAxGAG COVERED NOVEL SLMAP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000258230.1 2 22.572159 KEEP 0 0 0 75 2605 CC 1 1 0 + 10 60 382 0 0 25.349587 208 60 7480 370 ENST00000295951.3 0.045872 1 SLMAP 7871 __UNKNOWN__ __UNKNOWN__ 3 57884070 57884070 __UNKNOWN__ Intron SNP C C G rs17058645 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:57884070C>G ENST00000295951.3 + 15 2616 SLMAP_ENST00000295952.3_Intron|SLMAP_ENST00000428312.1_Intron|SLMAP_ENST00000449503.2_Intron|SLMAP_ENST00000472546.1_Intron|SLMAP_ENST00000383718.3_3'UTR|SLMAP_ENST00000495364.1_Intron|SLMAP_ENST00000442599.2_Intron|SLMAP_ENST00000416870.1_Intron|SLMAP_ENST00000494088.1_Intron Q14BN4 SLMAP_HUMAN sarcolemma associated protein NA NA muscle contraction (GO:0006936) cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|smooth endoplasmic reticulum (GO:0005790) endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2) 18 BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182) TTTATGGGAACGTGGAGAAAA 0.373 NA C||| 1495 0.298522 0.1248 0.3429 5008 , , NA 17596 0.4633 NA 0.2654 False NA ,,, NA NA NA 2504 0.3661 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF100750 CCDS33774.1 3p21.2-p14.3 2008-07-18 ENSG00000163681 ENSG00000163681 7871 16643 protein-coding gene gene with protein product Sarcolemmal-associated protein 602701 NA 9405447, 11042152 Standard NM_007159 NM_007159 NA Approved SLAP, KIAA1601 uc003djd.1 Q14BN4 OTTHUMG00000133764 ENST00000295951.3:c.1399+1411C>G chr3.hg19:g.57884070C>G NA Q14C95|Q6AI54|Q6UXC9|Q6ZVQ8|Q8NCW9|Q9H297|Q9HCH1|Q9Y681 hg19 CCDS33774.1 0.02 4.680419 GAAxGTG COVERED NOVEL SLMAP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000258230.1 2 9.93217 KEEP 0 0 0 33 1148 CC 0.999998 0.999971 0 + 5 60 187 0 0 12.423097 97 60 3440 164 ENST00000295951.3 0.04902 0.999973 SLMAP 7871 __UNKNOWN__ __UNKNOWN__ 3 57884686 57884686 __UNKNOWN__ Intron SNP T T C rs6766695 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:57884686T>C ENST00000295951.3 + 15 2616 SLMAP_ENST00000295952.3_Intron|SLMAP_ENST00000428312.1_Intron|SLMAP_ENST00000449503.2_Intron|SLMAP_ENST00000472546.1_Intron|SLMAP_ENST00000383718.3_3'UTR|SLMAP_ENST00000495364.1_Intron|SLMAP_ENST00000442599.2_Intron|SLMAP_ENST00000416870.1_Intron|SLMAP_ENST00000494088.1_Intron Q14BN4 SLMAP_HUMAN sarcolemma associated protein NA NA muscle contraction (GO:0006936) cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|smooth endoplasmic reticulum (GO:0005790) endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2) 18 BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182) taccatggtgttgggaacata 0.383 NA T||| 1824 0.364217 0.3593 0.3674 5008 , , NA 3046 0.4643 NA 0.2664 False NA ,,, NA NA NA 2504 0.3661 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF100750 CCDS33774.1 3p21.2-p14.3 2008-07-18 ENSG00000163681 ENSG00000163681 7871 16643 protein-coding gene gene with protein product Sarcolemmal-associated protein 602701 NA 9405447, 11042152 Standard NM_007159 NM_007159 NA Approved SLAP, KIAA1601 uc003djd.1 Q14BN4 OTTHUMG00000133764 ENST00000295951.3:c.1399+2027T>C chr3.hg19:g.57884686T>C NA Q14C95|Q6AI54|Q6UXC9|Q6ZVQ8|Q8NCW9|Q9H297|Q9HCH1|Q9Y681 hg19 CCDS33774.1 0.02 12.808353 GTGxTGG COVERED NOVEL SLMAP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000258230.1 1 17.75243 KEEP 0 0 0 59 1891 TT 1 1 0 + 26 60 986 0 0 74.581644 228 60 8170 360 ENST00000295951.3 0.102362 1 SLMAP 7871 __UNKNOWN__ __UNKNOWN__ 3 57885926 57885926 __UNKNOWN__ Intron SNP T T A rs6445933 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:57885926T>A ENST00000295951.3 + 15 2616 SLMAP_ENST00000295952.3_Intron|SLMAP_ENST00000428312.1_Intron|SLMAP_ENST00000449503.2_Intron|SLMAP_ENST00000472546.1_Intron|SLMAP_ENST00000383718.3_3'UTR|SLMAP_ENST00000495364.1_Intron|SLMAP_ENST00000442599.2_Intron|SLMAP_ENST00000416870.1_Intron|SLMAP_ENST00000494088.1_Intron Q14BN4 SLMAP_HUMAN sarcolemma associated protein NA NA muscle contraction (GO:0006936) cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|smooth endoplasmic reticulum (GO:0005790) endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2) 18 BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182) TCCCCTTTTTTAAAAAATAGC 0.303 NA T||| 1807 0.360823 0.348 0.3646 5008 , , NA 16501 0.4653 NA 0.2654 False NA ,,, NA NA NA 2504 0.3661 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF100750 CCDS33774.1 3p21.2-p14.3 2008-07-18 ENSG00000163681 ENSG00000163681 7871 16643 protein-coding gene gene with protein product Sarcolemmal-associated protein 602701 NA 9405447, 11042152 Standard NM_007159 NM_007159 NA Approved SLAP, KIAA1601 uc003djd.1 Q14BN4 OTTHUMG00000133764 ENST00000295951.3:c.1399+3267T>A chr3.hg19:g.57885926T>A NA Q14C95|Q6AI54|Q6UXC9|Q6ZVQ8|Q8NCW9|Q9H297|Q9HCH1|Q9Y681 hg19 CCDS33774.1 0.02 8.611202 TTTxAAA COVERED NOVEL SLMAP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000258230.1 1 21.359723 KEEP 0 0 0 71 2169 TT 1 1 0 + 28 60 1018 0 0 77.409864 216 60 7688 370 ENST00000295951.3 0.114754 1 SLMAP 7871 __UNKNOWN__ __UNKNOWN__ 3 57887796 57887796 __UNKNOWN__ Intron SNP T T C rs6445934 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:57887796T>C ENST00000295951.3 + 15 2616 SLMAP_ENST00000295952.3_Intron|SLMAP_ENST00000428312.1_Intron|SLMAP_ENST00000449503.2_Intron|SLMAP_ENST00000472546.1_Intron|SLMAP_ENST00000383718.3_3'UTR|SLMAP_ENST00000495364.1_Intron|SLMAP_ENST00000442599.2_Intron|SLMAP_ENST00000416870.1_Intron|SLMAP_ENST00000494088.1_Intron Q14BN4 SLMAP_HUMAN sarcolemma associated protein NA NA muscle contraction (GO:0006936) cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|smooth endoplasmic reticulum (GO:0005790) endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2) 18 BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182) caactaaatataatgtatgaa 0.343 NA C||| 1972 0.39377 0.4652 0.3746 5008 , , NA 15962 0.4643 NA 0.2674 False NA ,,, NA NA NA 2504 0.3681 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF100750 CCDS33774.1 3p21.2-p14.3 2008-07-18 ENSG00000163681 ENSG00000163681 7871 16643 protein-coding gene gene with protein product Sarcolemmal-associated protein 602701 NA 9405447, 11042152 Standard NM_007159 NM_007159 NA Approved SLAP, KIAA1601 uc003djd.1 Q14BN4 OTTHUMG00000133764 ENST00000295951.3:c.1399+5137T>C chr3.hg19:g.57887796T>C NA Q14C95|Q6AI54|Q6UXC9|Q6ZVQ8|Q8NCW9|Q9H297|Q9HCH1|Q9Y681 hg19 CCDS33774.1 0.02 4.682435 ATAxAAT COVERED NOVEL SLMAP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000258230.1 12 30.044429 KEEP 0 0 0 100 3068 TT 1 1 0 + 11 60 424 0 0 31.061915 125 60 4525 310 ENST00000295951.3 0.080882 1 SLMAP 7871 __UNKNOWN__ __UNKNOWN__ 3 57913714 57913714 __UNKNOWN__ 3'UTR SNP A A G rs1057719 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:57913714A>G ENST00000295951.3 + 0 4252 SLMAP_ENST00000295952.3_3'UTR|SLMAP_ENST00000428312.1_3'UTR|SLMAP_ENST00000449503.2_3'UTR Q14BN4 SLMAP_HUMAN sarcolemma associated protein NA NA muscle contraction (GO:0006936) cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|smooth endoplasmic reticulum (GO:0005790) endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2) 18 BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182) ATAAACTGTTATGGTGATAAT 0.348 NA A||| 1810 0.361422 0.3487 0.3646 5008 , , NA 14983 0.4643 NA 0.2684 False NA ,,, NA NA NA 2504 0.3661 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF100750 CCDS33774.1 3p21.2-p14.3 2008-07-18 ENSG00000163681 ENSG00000163681 7871 16643 protein-coding gene gene with protein product Sarcolemmal-associated protein 602701 NA 9405447, 11042152 Standard NM_007159 NM_007159 NA Approved SLAP, KIAA1601 uc003djd.1 Q14BN4 OTTHUMG00000133764 ENST00000295951.3:c.*599A>G chr3.hg19:g.57913714A>G NA Q14C95|Q6AI54|Q6UXC9|Q6ZVQ8|Q8NCW9|Q9H297|Q9HCH1|Q9Y681 hg19 CCDS33774.1 0.02 9.689654 GTTxTGG COVERED NOVEL SLMAP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000258230.1 2 20.430332 KEEP 0 0 0 68 2018 AA 1 1 0 + 14 60 527 0 0 36.719827 208 60 7134 371 ENST00000295951.3 0.063063 1 SLMAP 7871 __UNKNOWN__ __UNKNOWN__ 3 57914178 57914178 __UNKNOWN__ 3'UTR SNP T T C rs1043045 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:57914178T>C ENST00000295951.3 + 0 4716 SLMAP_ENST00000295952.3_3'UTR|SLMAP_ENST00000428312.1_3'UTR|SLMAP_ENST00000449503.2_3'UTR Q14BN4 SLMAP_HUMAN sarcolemma associated protein NA NA muscle contraction (GO:0006936) cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|smooth endoplasmic reticulum (GO:0005790) endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2) 18 BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182) TTTCTTTTTATTGTTGTTAAT 0.343 NA T||| 1837 0.366813 0.3631 0.3674 5008 , , NA 18197 0.4643 NA 0.2694 False NA ,,, NA NA NA 2504 0.3712 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF100750 CCDS33774.1 3p21.2-p14.3 2008-07-18 ENSG00000163681 ENSG00000163681 7871 16643 protein-coding gene gene with protein product Sarcolemmal-associated protein 602701 NA 9405447, 11042152 Standard NM_007159 NM_007159 NA Approved SLAP, KIAA1601 uc003djd.1 Q14BN4 OTTHUMG00000133764 ENST00000295951.3:c.*1063T>C chr3.hg19:g.57914178T>C NA Q14C95|Q6AI54|Q6UXC9|Q6ZVQ8|Q8NCW9|Q9H297|Q9HCH1|Q9Y681 hg19 CCDS33774.1 0.02 7.051552 TTAxTGT COVERED NOVEL SLMAP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000258230.1 3 16.548098 KEEP 0 0 0 55 1770 TT 1 1 0 + 13 60 502 0 0 35.694008 181 60 6515 292 ENST00000295951.3 0.06701 1 PDHB 5162 __UNKNOWN__ __UNKNOWN__ 3 58419529 58419529 __UNKNOWN__ Missense_Mutation SNP G G A rs536872599 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:58419529G>A ENST00000302746.6 - 1 50 c.8C>T c.(7-9)gCg>gTg p.A3V PDHB_ENST00000485460.1_Missense_Mutation_p.A3V|PDHB_ENST00000474765.1_Missense_Mutation_p.A3V NM_000925.3|NM_001173468.1 NP_000916.2|NP_001166939.1 P11177 ODPB_HUMAN pyruvate dehydrogenase (lipoamide) beta 3 NA acetyl-CoA biosynthetic process from pyruvate (GO:0006086)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099) extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|pyruvate dehydrogenase complex (GO:0045254) pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)|pyruvate dehydrogenase activity (GO:0004738) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1) 9 BRCA - Breast invasive adenocarcinoma(55;0.000179)|Kidney(10;0.00231)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.187) Pyruvic acid(DB00119) GCCAGACACCGCCGCCATCTT 0.692 NA G||| 3 0.000599042 0.0 0.0 5008 , , NA 10434 0.003 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 22 22 22 NA NA 3 NA 58419529 2186 4272 6458 SO:0001583 missense CCDS2890.1, CCDS54602.1 3p21.1-p14.2 1995-12-20 ENSG00000168291 ENSG00000168291 5162 1.2.4.1 8808 protein-coding gene gene with protein product 179060 NA Standard NR_033384 NA Approved uc003dkf.4 P11177 OTTHUMG00000159157 ENST00000302746.6:c.8C>T chr3.hg19:g.58419529G>A ENSP00000307241:p.Ala3Val NA B2R7L0|B4DDD7|Q6FH45|Q9BQ27|Q9UFK3 hg19 CCDS2890.1 0.02 7.610678 ACCxCCG COVERED . . . . . . . . . . G 15.64 2.892053 0.52014 . . ENSG00000168291 ENST00000302746;ENST00000383714;ENST00000485460;ENST00000474765 D;D;D;D 0.97941 -4.05;-4.06;-4.62;-4.02 5.37 0.273 0.15650 . 0.385767 0.28736 N 0.014307 D 0.89660 0.6779 N 0.08118 0 0.21386 N 0.999703 B;B;B;B 0.09022 0.0;0.002;0.001;0.0 B;B;B;B 0.04013 0.0;0.001;0.001;0.0 T 0.80632 -0.1296 10 0.13470 T 0.59 -2.2772 4.6525 0.12601 0.2256:0.0:0.5154:0.259 . 3;3;3;3 B4DDD7;C9J634;P11177-2;P11177 .;.;.;ODPB_HUMAN V 3 ENSP00000307241:A3V;ENSP00000373220:A3V;ENSP00000417267:A3V;ENSP00000418448:A3V ENSP00000307241:A3V A - 2 0 PDHB 58394569 0.994000 0.37717 0.066000 0.19879 0.859000 0.49053 0.453000 0.21811 -0.134000 0.11516 0.561000 0.74099 GCG NOVEL PDHB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000353558.1 3 46.266583 KEEP 0 2 45 170 5820 GG 1 1 0 - 8 60 254 0 0 14.15632 224 60 7792 583 ENST00000302746.6 0.034483 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 58720222 58720222 __UNKNOWN__ IGR SNP G G A rs3762702 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:58720222G>A NA NA FAM3D (67647 upstream) : C3orf67 (7510 downstream) NA NA NA ctTTTTCTTCGGTGGTCCATT 0.413 NA G||| 676 0.134984 0.0408 0.1225 5008 , , NA 21992 0.372 NA 0.0378 False NA ,,, NA NA NA 2504 0.1268 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.58720222G>A NA hg19 0.02 7.33617 TTCxGTG COVERED NOVEL 0 1 8.426857 KEEP 0 0 0 28 957 GG 0.999997 0.999997 0 14 60 526 0 0 38.135699 160 60 5468 247 0.08046 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 58720366 58720366 __UNKNOWN__ IGR SNP T T C rs3762703 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:58720366T>C NA NA FAM3D (67791 upstream) : C3orf67 (7366 downstream) NA NA NA caaagctccctgggcaggtgc 0.463 NA T||| 881 0.175919 0.1846 0.1398 5008 , , NA 21290 0.374 NA 0.0388 False NA ,,, NA NA NA 2504 0.1268 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.58720366T>C NA hg19 0.02 4.652705 CCCxGGG COVERED NOVEL 0 0 5.717238 KEEP 0 0 0 19 597 TT 0.99986 0.999859 0 10 60 348 0 0 24.340153 118 60 4293 178 0.078125 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 58722820 58722820 __UNKNOWN__ IGR SNP C C G rs3752818 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:58722820C>G NA NA FAM3D (70245 upstream) : C3orf67 (4912 downstream) NA NA NA TAAAATATGACAAAGAAAATA 0.299 NA G||| 831 0.165935 0.149 0.1369 5008 , , NA 17991 0.372 NA 0.0388 False NA ,,, NA NA NA 2504 0.1278 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.58722820C>G NA hg19 0.02 6.808319 TGAxAAA COVERED NOVEL 0 1 6.320688 KEEP 0 0 0 21 748 CC 0.999869 0.999869 0 14 60 530 0 0 37.65581 186 60 6857 245 0.07 1 C3orf67 200844 __UNKNOWN__ __UNKNOWN__ 3 58727944 58727944 __UNKNOWN__ 3'UTR SNP C C A rs80100250 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:58727944C>A ENST00000295966.7 - 0 2438 C3orf67_ENST00000482387.1_3'UTR NM_198463.2 NP_940865.1 Q6ZVT6 CC067_HUMAN chromosome 3 open reading frame 67 NA NA endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1) 19 all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248) BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23) CAAACAAGAACCAATTCAAAC 0.254 NA C||| 681 0.135982 0.0439 0.1225 5008 , , NA 17852 0.373 NA 0.0378 False NA ,,, NA NA NA 2504 0.1268 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK124920 CCDS33776.1 3p14.2 2011-01-25 ENSG00000163689 ENSG00000163689 200844 24763 protein-coding gene gene with protein product NA Standard NM_198463 NM_198463 NA Approved FLJ42117, FLJ42930 uc003dkt.1 Q6ZVT6 OTTHUMG00000159151 ENST00000295966.7:c.*243G>T chr3.hg19:g.58727944C>A NA B9EKV6|Q6ZV69 hg19 CCDS33776.1 0.02 6.295653 GAAxCAA COVERED NOVEL C3orf67-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000353519.2 2 6.621754 KEEP 0 0 0 22 796 CC 0.999879 0.999879 0 - 10 60 361 0 0 24.744112 146 60 5355 220 ENST00000295966.7 0.064103 1 C3orf67 200844 __UNKNOWN__ __UNKNOWN__ 3 58792086 58792086 __UNKNOWN__ Intron SNP T T A rs6804653 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:58792086T>A ENST00000295966.7 - 14 1988 C3orf67_ENST00000482387.1_Intron NM_198463.2 NP_940865.1 Q6ZVT6 CC067_HUMAN chromosome 3 open reading frame 67 NA NA endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1) 19 all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248) BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23) CTAAGTTTTTTTTTTTCTTAA 0.353 NA T||| 673 0.134385 0.0386 0.1239 5008 , , NA 16379 0.371 NA 0.0378 False NA ,,, NA NA NA 2504 0.1268 NA NA NA NA 0 T 156,4250 77.8+/-116.1 5,146,2052 55 58 57 -4.9 0 3 dbSNP_116 57 252,8348 81.8+/-144.4 4,244,4052 no intron C3orf67 NM_198463.2 9,390,6104 AA,AT,TT 2.9302,3.5406,3.137 58792086 408,12598 2203 4300 6503 SO:0001627 intron_variant AK124920 CCDS33776.1 3p14.2 2011-01-25 ENSG00000163689 ENSG00000163689 200844 24763 protein-coding gene gene with protein product NA Standard NM_198463 NM_198463 NA Approved FLJ42117, FLJ42930 uc003dkt.1 Q6ZVT6 OTTHUMG00000159151 ENST00000295966.7:c.1484+34A>T chr3.hg19:g.58792086T>A NA B9EKV6|Q6ZV69 hg19 CCDS33776.1 0.02 4.419279 TTTxTTT COVERED NOVEL C3orf67-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000353519.2 0 4.512526 KEEP 0 0 0 15 451 TT 0.99649 0.996482 0 - 8 60 283 2 0 19.739774 100 60 3557 135 ENST00000295966.7 0.074074 0.999992 C3orf67 200844 __UNKNOWN__ __UNKNOWN__ 3 58834824 58834824 __UNKNOWN__ Intron SNP A A G rs1554909 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:58834824A>G ENST00000295966.7 - 12 1722 C3orf67_ENST00000482387.1_Silent_p.A510A|RP11-147N17.1_ENST00000482372.1_RNA|RP11-147N17.1_ENST00000493123.1_RNA|RP11-147N17.1_ENST00000492031.1_RNA|RP11-147N17.1_ENST00000463703.1_RNA NM_198463.2 NP_940865.1 Q6ZVT6 CC067_HUMAN chromosome 3 open reading frame 67 NA NA endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1) 19 all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248) BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23) TGTTTAGTGAAGCTGGCACTT 0.512 NA A||| 945 0.188698 0.2292 0.1499 5008 , , NA 17038 0.376 NA 0.0398 False NA ,,, NA NA NA 2504 0.1217 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK124920 CCDS33776.1 3p14.2 2011-01-25 ENSG00000163689 ENSG00000163689 200844 24763 protein-coding gene gene with protein product NA Standard NM_198463 NM_198463 NA Approved FLJ42117, FLJ42930 uc003dkt.1 Q6ZVT6 OTTHUMG00000159151 ENST00000295966.7:c.1218+14459T>C chr3.hg19:g.58834824A>G NA B9EKV6|Q6ZV69 hg19 CCDS33776.1 0.02 6.595525 TGAxGCT COVERED NOVEL C3orf67-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000353519.2 1 5.11464 KEEP 0 0 0 17 540 AA 0.999366 0.999366 0 - 10 60 339 0 0 22.560151 146 60 5164 195 ENST00000295966.7 0.064103 1 C3orf67 200844 __UNKNOWN__ __UNKNOWN__ 3 58834890 58834890 __UNKNOWN__ Intron SNP C C T rs6797698 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:58834890C>T ENST00000295966.7 - 12 1722 C3orf67_ENST00000482387.1_Silent_p.G488G|RP11-147N17.1_ENST00000482372.1_RNA|RP11-147N17.1_ENST00000493123.1_RNA|RP11-147N17.1_ENST00000492031.1_RNA|RP11-147N17.1_ENST00000463703.1_RNA NM_198463.2 NP_940865.1 Q6ZVT6 CC067_HUMAN chromosome 3 open reading frame 67 NA NA endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1) 19 all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248) BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23) TCTGACAGGACCCACACCTTC 0.448 NA T||| 1313 0.262181 0.4811 0.17 5008 , , NA 18864 0.3661 NA 0.0606 False NA ,,, NA NA NA 2504 0.1319 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK124920 CCDS33776.1 3p14.2 2011-01-25 ENSG00000163689 ENSG00000163689 200844 24763 protein-coding gene gene with protein product NA Standard NM_198463 NM_198463 NA Approved FLJ42117, FLJ42930 uc003dkt.1 Q6ZVT6 OTTHUMG00000159151 ENST00000295966.7:c.1218+14393G>A chr3.hg19:g.58834890C>T NA B9EKV6|Q6ZV69 hg19 CCDS33776.1 0.02 11.710152 GGAxCCA COVERED NOVEL C3orf67-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000353519.2 2 11.431429 KEEP 0 0 0 38 1330 CC 1 1 0 - 21 60 795 0 0 58.059775 233 60 8649 362 ENST00000295966.7 0.082677 1 C3orf67 200844 __UNKNOWN__ __UNKNOWN__ 3 58899633 58899633 __UNKNOWN__ Intron SNP A A T rs7653229 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:58899633A>T ENST00000472469.1 - 5 774 C3orf67_ENST00000482387.1_Intron|RP11-147N17.1_ENST00000482372.1_RNA|C3orf67_ENST00000491845.1_Intron|C3orf67_ENST00000295966.7_Intron|RP11-147N17.1_ENST00000493123.1_RNA|RP11-147N17.1_ENST00000492031.1_RNA|RP11-147N17.1_ENST00000463703.1_RNA Q6ZVT6 CC067_HUMAN chromosome 3 open reading frame 67 NA NA endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1) 19 all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248) BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23) CCTTTCATCAACACATAAATG 0.373 NA T||| 1319 0.263379 0.4864 0.1643 5008 , , NA 21525 0.3968 NA 0.0408 False NA ,,, NA NA NA 2504 0.1237 NA NA NA NA 0 T 1858,2548 626.9+/-394.8 394,1070,739 44 41 42 1.1 0 3 dbSNP_116 42 293,8305 798.2+/-407.4 5,283,4011 no intron C3orf67 NM_198463.2 399,1353,4750 TT,TA,AA 3.4078,42.1698,16.5411 58899633 2151,10853 2203 4299 6502 SO:0001627 intron_variant AK124920 CCDS33776.1 3p14.2 2011-01-25 ENSG00000163689 ENSG00000163689 200844 24763 protein-coding gene gene with protein product NA Standard NM_198463 NM_198463 NA Approved FLJ42117, FLJ42930 uc003dkt.1 Q6ZVT6 OTTHUMG00000159151 ENST00000472469.1:c.64+23740T>A chr3.hg19:g.58899633A>T NA B9EKV6|Q6ZV69 hg19 0.02 6.469937 TCAxCAC COVERED NOVEL C3orf67-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000353804.1 0 3.008842 KEEP 0 0 0 10 307 AA 0.992708 0.992708 0 - 16 60 581 1 0 41.784329 177 60 6245 209 ENST00000472469.1 0.082902 1 FHIT 2272 __UNKNOWN__ __UNKNOWN__ 3 59999690 59999690 __UNKNOWN__ Intron SNP T T C rs13067835 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:59999690T>C ENST00000468189.1 - 6 620 FHIT_ENST00000466788.1_Intron|FHIT_ENST00000476844.1_Intron|FHIT_ENST00000341848.4_Intron|FHIT_ENST00000492590.1_Intron P49789 FHIT_HUMAN fragile histidine triad NA NA DNA replication (GO:0006260)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide metabolic process (GO:0009117)|purine nucleotide metabolic process (GO:0006163)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634) bis(5'-adenosyl)-triphosphatase activity (GO:0047710)|catalytic activity (GO:0003824)|hydrolase activity (GO:0016787)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|ubiquitin protein ligase binding (GO:0031625) NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1) 12 all_cancers(2;2.37e-314)|all_epithelial(2;5.17e-286)|Colorectal(2;1.24e-68)|all_lung(2;1.31e-45)|Lung NSC(2;1.79e-44)|all_hematologic(2;1.59e-23)|Renal(2;1.03e-13)|Breast(2;1.06e-10)|Esophageal squamous(2;6.31e-09)|Melanoma(2;1.83e-07)|Acute lymphoblastic leukemia(2;5.46e-05)|all_neural(2;0.00118)|Medulloblastoma(2;0.00263)|Hepatocellular(2;0.0245)|Ovarian(2;0.0408) UCEC - Uterine corpus endometrioid carcinoma (45;0.0887)|Epithelial(1;9.28e-70)|all cancers(1;3.07e-60)|Colorectal(1;2.33e-53)|STAD - Stomach adenocarcinoma(1;7.22e-48)|COAD - Colon adenocarcinoma(3;1.05e-44)|READ - Rectum adenocarcinoma(3;2.41e-08)|KIRC - Kidney renal clear cell carcinoma(10;0.000109)|Kidney(10;0.000125)|Lung(1;0.000161)|LUSC - Lung squamous cell carcinoma(1;0.000742)|OV - Ovarian serous cystadenocarcinoma(275;0.00372)|BRCA - Breast invasive adenocarcinoma(55;0.00448) TGCCGGGATATGAAAGGGAAG 0.433 NA T HMGA2 pleomorphic salivary gland adenoma Renal Cell Cancer associated with constitutional translocation of chromosome 3 T||| 1476 0.294728 0.0998 0.2867 5008 , , NA 21122 0.2976 NA 0.4831 False NA ,,, NA NA NA 2504 0.3671 NA NA NA Dom yes 3 3p14.2 2272 fragile histidine triad gene E 0 T , 683,3723 288.7+/-280.0 61,561,1581 45 46 46 , 3.2 0 3 dbSNP_121 46 3922,4678 548.2+/-385.3 928,2066,1306 no intron,intron FHIT NM_001166243.1,NM_002012.2 , 989,2627,2887 CC,CT,TT 45.6047,15.5016,35.4067 , , 59999690 4605,8401 2203 4300 6503 SO:0001627 intron_variant Familial Cancer Database BC032336 CCDS2894.1 3p14.2 2012-02-27 2012-02-27 ENSG00000189283 ENSG00000189283 2272 3701 protein-coding gene gene with protein product 601153 fragile histidine triad gene NA 8598045, 9671749 Standard NM_002012 NM_002012 NA Approved FRA3B, AP3Aase uc003dky.3 P49789 OTTHUMG00000158591 ENST00000468189.1:c.249+42A>G chr3.hg19:g.59999690T>C NA A2IAS9|A2IAT0|A2IAT6|A8K1A9|Q45QG9|Q6IU12 hg19 CCDS2894.1 0.02 4.222951 ATAxGAA COVERED NOVEL FHIT-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000351648.1 0 6.317957 KEEP 0 0 0 21 633 TT 0.999869 0.999868 0 - 5 60 181 0 0 11.463122 115 60 4277 167 ENST00000468189.1 0.041667 0.999999 CADPS 8618 __UNKNOWN__ __UNKNOWN__ 3 62571037 62571037 __UNKNOWN__ Intron SNP G G A rs2659467 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:62571037G>A ENST00000383710.4 - 8 1787 CADPS_ENST00000357948.3_Intron|CADPS_ENST00000283269.9_Intron NM_003716.3 NP_003707.2 Q9ULU8 CAPS1_HUMAN Ca++-dependent secretion activator NA NA catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050) cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202) lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901) breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2) 92 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) GAAAAGAGAAGCACCATTATG 0.443 NA G||| 635 0.126797 0.0431 0.2709 5008 , , NA 16100 0.129 NA 0.1839 False NA ,,, NA NA NA 2504 0.0767 NA NA NA NA 0 G ,, 338,4068 165.4+/-196.9 7,324,1872 80 83 82 ,, -0.9 0 3 dbSNP_100 82 1601,6999 289.4+/-299.3 141,1319,2840 no intron,intron,intron CADPS NM_003716.3,NM_183393.2,NM_183394.2 ,, 148,1643,4712 AA,AG,GG 18.6163,7.6714,14.9085 ,, ,, 62571037 1939,11067 2203 4300 6503 SO:0001627 intron_variant U36448 CCDS2898.1, CCDS2899.1, CCDS46858.1 3p21.1 2013-01-10 2008-08-28 ENSG00000163618 ENSG00000163618 8618 Pleckstrin homology (PH) domain containing 1426 protein-coding gene gene with protein product 604667 NA 1516133 Standard NM_003716, NM_183393, NM_183394 NM_183393 NA Approved CAPS, KIAA1121, CAPS1 uc003dll.2 Q9ULU8 OTTHUMG00000158651 ENST00000383710.4:c.1438-38C>T chr3.hg19:g.62571037G>A NA A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2 hg19 CCDS46858.1 0.02 5.447776 GAAxCAC COVERED NOVEL CADPS-013 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000351951.5 2 12.640932 KEEP 0 0 0 42 1486 GG 1 1 0 - 9 60 303 0 0 18.749518 187 60 7026 282 ENST00000383710.4 0.045918 1 SNTN 132203 __UNKNOWN__ __UNKNOWN__ 3 63650211 63650211 __UNKNOWN__ Intron SNP A A T rs1565984 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:63650211A>T ENST00000496807.1 + 3 275 SNTN_ENST00000343837.3_3'UTR A6NMZ2 SNTAN_HUMAN sentan, cilia apical structure protein NA NA cilium (GO:0005929) calcium ion binding (GO:0005509) endometrium(2)|ovary(1) 3 caatttttaaataattgcata 0.363 NA T||| 889 0.177516 0.2254 0.1369 5008 , , NA 14668 0.127 NA 0.162 False NA ,,, NA NA NA 2504 0.2096 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK126350 CCDS33779.1 3p14.2 2009-03-10 2009-03-10 ENSG00000188817 ENSG00000188817 132203 33706 protein-coding gene gene with protein product S100A-like protein NA 18829862 Standard NM_001080537 NM_001080537 NA Approved FLJ44379, S100AL uc003dlr.3 A6NMZ2 OTTHUMG00000158766 ENST00000496807.1:c.273+4671A>T chr3.hg19:g.63650211A>T NA B7FF65 hg19 0.02 6.204647 TAAxTAA COVERED NOVEL SNTN-001 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000352093.1 1 2.744776 KEEP 0 1 37 22 721 AA 0.999892 0.999892 0 + 6 60 221 0 0 13.939191 149 60 5508 213 ENST00000496807.1 0.03871 1 PSMD6 9861 __UNKNOWN__ __UNKNOWN__ 3 64009102 64009102 __UNKNOWN__ 5'UTR SNP G G T rs35836 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:64009102G>T ENST00000295901.4 - 0 134 PSMD6_ENST00000482510.1_5'UTR|PSMD6_ENST00000492933.1_5'UTR|PSMD6_ENST00000394431.2_Intron NM_014814.1 NP_055629.1 Q15008 PSMD6_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 6 NA NA anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502) ATPase activity (GO:0016887) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(1) 13 Lung NSC(201;0.136) BRCA - Breast invasive adenocarcinoma(55;0.000805)|Kidney(15;0.00188)|KIRC - Kidney renal clear cell carcinoma(15;0.00212) GCATCGCGGCGAAGGGGACAG 0.692 NA G||| 382 0.076278 0.171 0.013 5008 , , NA 14454 0.1121 NA 0.005 False NA ,,, NA NA NA 2504 0.0297 NA NA NA NA 0 G 555,3847 32,491,1678 27 28 27 3.5 0 3 dbSNP_76 27 49,8551 0,49,4251 no utr-5 PSMD6 NM_014814.1 32,540,5929 TT,TG,GG 0.5698,12.6079,4.6454 64009102 604,12398 2201 4300 6501 SO:0001623 5_prime_UTR_variant AF215935 CCDS2901.1, CCDS63677.1, CCDS63678.1, CCDS63679.1 3p14.1 2008-05-22 ENSG00000163636 ENSG00000163636 9861 Proteasome (prosome, macropain) subunits 9564 protein-coding gene gene with protein product NA 10723133 Standard NM_014814 NM_001271779 NA Approved S10, p44S10, KIAA0107, Rpn7 uc003dmb.2 Q15008 OTTHUMG00000158765 ENST00000295901.4:c.-7C>A chr3.hg19:g.64009102G>T NA A8K2E0|E9PHI9|Q6UV22 hg19 CCDS2901.1 0.02 14.205629 GGCxAAG COVERED NOVEL PSMD6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000352082.1 2 72.199174 KEEP 0 0 0 240 7988 GG 1 1 0 - 18 60 621 0 0 40.640483 315 60 11584 745 ENST00000295901.4 0.054054 1 PSMD6 9861 __UNKNOWN__ __UNKNOWN__ 3 64009508 64009508 __UNKNOWN__ Missense_Mutation SNP T T C rs40610 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:64009508T>C ENST00000394431.2 - 1 150 c.4A>G c.(4-6)Aat>Gat p.N2D NM_001271780.1 NP_001258709.1 Q15008 PSMD6_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 6 0 NA anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502) ATPase activity (GO:0016887) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(1) 13 Lung NSC(201;0.136) BRCA - Breast invasive adenocarcinoma(55;0.000805)|Kidney(15;0.00188)|KIRC - Kidney renal clear cell carcinoma(15;0.00212) ttactctcattcatcttatta 0.343 NA T||| 1314 0.26238 0.2504 0.1282 5008 , , NA 17714 0.4137 NA 0.2515 False NA ,,, NA NA NA 2504 0.229 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense AF215935 CCDS2901.1, CCDS63677.1, CCDS63678.1, CCDS63679.1 3p14.1 2008-05-22 ENSG00000163636 ENSG00000163636 9861 Proteasome (prosome, macropain) subunits 9564 protein-coding gene gene with protein product NA 10723133 Standard NM_014814 NM_001271779 NA Approved S10, p44S10, KIAA0107, Rpn7 uc003dmb.2 Q15008 OTTHUMG00000158765 ENST00000394431.2:c.4A>G chr3.hg19:g.64009508T>C ENSP00000377952:p.Asn2Asp NA A8K2E0|E9PHI9|Q6UV22 hg19 0.02 4.638037 CATxCAT COVERED 607 0.27793040293040294 121 0.2459349593495935 55 0.15193370165745856 234 0.4090909090909091 197 0.2598944591029024 T 6.964 0.547855 0.13312 . . ENSG00000163636 ENST00000394431 . . . 2.35 1.16 0.20824 . . . . . T 0.00012 0.0000 . . . 0.80722 P 0.0 P 0.36222 0.544 B 0.23150 0.044 T 0.43180 -0.9407 6 0.87932 D 0 . 7.1228 0.25454 0.0:0.0:0.227:0.773 rs40610;rs2568825;rs3774731;rs17069729;rs52835707;rs56505350;rs58604108;rs40610 2 Q6UV22 . D 2 . ENSP00000377952:N2D N - 1 0 PSMD6 63984548 0.001000 0.12720 0.000000 0.03702 0.000000 0.00434 -0.160000 0.10041 -0.047000 0.13423 -2.035000 0.00420 AAT NOVEL PSMD6-201 KNOWN basic protein_coding NA protein_coding 0 24.971516 KEEP 0 0 0 83 2568 TT 1 1 0 - 12 60 449 0 0 32.806388 129 70 4707 276 ENST00000394431.2 0.085106 1 ADAMTS9 56999 __UNKNOWN__ __UNKNOWN__ 3 64547178 64547178 __UNKNOWN__ Intron SNP T T C rs17071048 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:64547178T>C ENST00000498707.1 - 30 5041 ADAMTS9_ENST00000295903.4_Intron|ADAMTS9-AS1_ENST00000480831.1_RNA|ADAMTS9-AS1_ENST00000470447.1_RNA NM_182920.1 NP_891550.1 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 9 NA NA glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192) endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578) metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270) breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) TCTGGCTTTATAGGGAACAGA 0.527 NA T||| 456 0.0910543 0.09 0.1398 5008 , , NA 16675 0.2232 NA 0.004 False NA ,,, NA NA NA 2504 0.0112 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF261918 CCDS2903.1 3p14.1 2008-05-15 2005-08-19 ENSG00000163638 ENSG00000163638 56999 ADAM metallopeptidases with thrombospondin type 1 motif 13202 protein-coding gene gene with protein product 605421 a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9 NA 10936055 Standard NM_182920 NA Approved KIAA1312 uc003dmg.3 Q9P2N4 OTTHUMG00000158722 ENST00000498707.1:c.4698+75A>G chr3.hg19:g.64547178T>C NA A1L4L0|B7ZVX9|B9ZVN0|Q9NR29 hg19 CCDS2903.1 0.02 4.296792 TTAxAGG COVERED NOVEL ADAMTS9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000351891.1 0 3.909706 KEEP 0 0 0 13 362 TT 0.994391 0.99439 0 - 9 60 327 0 0 23.016032 114 60 4108 138 ENST00000498707.1 0.073171 0.999999 ADAMTS9 56999 __UNKNOWN__ __UNKNOWN__ 3 64554259 64554259 __UNKNOWN__ Intron SNP G G A rs78719559 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:64554259G>A ENST00000498707.1 - 29 4699 ADAMTS9-AS1_ENST00000594810.1_RNA|ADAMTS9-AS1_ENST00000492209.1_RNA|ADAMTS9-AS1_ENST00000493124.1_RNA|ADAMTS9_ENST00000295903.4_Intron|ADAMTS9-AS1_ENST00000470447.1_RNA|ADAMTS9-AS1_ENST00000474313.1_RNA NM_182920.1 NP_891550.1 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 9 NA NA glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192) endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578) metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270) breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) TTAATTACACGGAGTTTGAGA 0.403 NA G||| 435 0.086861 0.0272 0.134 5008 , , NA 20564 0.2569 NA 0.003 False NA ,,, NA NA NA 2504 0.045 NA NA NA NA 0 G 122,4284 88.2+/-126.9 1,120,2082 64 62 62 0.5 0 3 dbSNP_131 62 18,8582 11.9+/-42.8 0,18,4282 no intron ADAMTS9 NM_182920.1 1,138,6364 AA,AG,GG 0.2093,2.769,1.0764 64554259 140,12866 2203 4300 6503 SO:0001627 intron_variant AF261918 CCDS2903.1 3p14.1 2008-05-15 2005-08-19 ENSG00000163638 ENSG00000163638 56999 ADAM metallopeptidases with thrombospondin type 1 motif 13202 protein-coding gene gene with protein product 605421 a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9 NA 10936055 Standard NM_182920 NA Approved KIAA1312 uc003dmg.3 Q9P2N4 OTTHUMG00000158722 ENST00000498707.1:c.4357-48C>T chr3.hg19:g.64554259G>A NA A1L4L0|B7ZVX9|B9ZVN0|Q9NR29 hg19 CCDS2903.1 0.02 9.08873 CACxGAG COVERED NOVEL ADAMTS9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000351891.1 0 25.576876 KEEP 0 0 0 85 2872 GG 1 1 0 - 19 60 698 0 0 50.209308 216 60 7824 382 ENST00000498707.1 0.080851 1 MAGI1 9223 __UNKNOWN__ __UNKNOWN__ 3 65355470 65355470 __UNKNOWN__ Intron SNP T T C rs145968409 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:65355470T>C ENST00000497477.2 - 18 2995 MAGI1_ENST00000483466.1_Intron|MAGI1_ENST00000402939.2_Intron|MAGI1_ENST00000330909.8_Intron Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 NA NA cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461) cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923) alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022) breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) aggcatgagctaccatgcccg 0.512 NA T||| 17 0.00339457 0.0008 0.0 5008 , , NA 18053 0.0139 NA 0.0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB010894 CCDS33780.1, CCDS33781.1, CCDS2904.1 3p14.1 2009-10-06 2005-05-10 2005-05-10 ENSG00000151276 ENSG00000151276 9223 946 protein-coding gene gene with protein product 602625 BAI1-associated protein 1 BAIAP1 NA 9647739, 9225980 Standard NM_004742 XM_005265563 NA Approved BAP1, MAGI-1, TNRC19, AIP3, WWP3 uc003dmn.3 Q96QZ7 OTTHUMG00000157554 ENST00000497477.2:c.2996-4849A>G chr3.hg19:g.65355470T>C NA A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9 hg19 0.02 2.268496 AGCxACC COVERED NOVEL MAGI1-007 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000349132.2 5 8.123176 KEEP 0 0 0 27 819 TT 0.999988 0.999395 0 - 4 60 148 0 0 9.771158 78 60 2863 129 ENST00000497477.2 0.04878 0.999407 MAGI1 9223 __UNKNOWN__ __UNKNOWN__ 3 65355606 65355606 __UNKNOWN__ Intron SNP A A G rs9883580 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:65355606A>G ENST00000497477.2 - 18 2995 MAGI1_ENST00000483466.1_Intron|MAGI1_ENST00000402939.2_Intron|MAGI1_ENST00000330909.8_Intron Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 NA NA cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461) cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923) alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022) breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) TCGAGTAAAAAATCTGAAAGA 0.398 NA G||| 1344 0.268371 0.3608 0.2695 5008 , , NA 19086 0.4167 NA 0.0258 False NA ,,, NA NA NA 2504 0.2393 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB010894 CCDS33780.1, CCDS33781.1, CCDS2904.1 3p14.1 2009-10-06 2005-05-10 2005-05-10 ENSG00000151276 ENSG00000151276 9223 946 protein-coding gene gene with protein product 602625 BAI1-associated protein 1 BAIAP1 NA 9647739, 9225980 Standard NM_004742 XM_005265563 NA Approved BAP1, MAGI-1, TNRC19, AIP3, WWP3 uc003dmn.3 Q96QZ7 OTTHUMG00000157554 ENST00000497477.2:c.2996-4985T>C chr3.hg19:g.65355606A>G NA A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9 hg19 0.02 2.185613 AAAxATC COVERED NOVEL MAGI1-007 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000349132.2 1 6.016662 KEEP 0 0 0 20 604 AA 0.999863 0.999081 0 - 4 60 164 0 0 11.412281 76 60 2740 118 ENST00000497477.2 0.05 0.999218 MAGI1 9223 __UNKNOWN__ __UNKNOWN__ 3 65357687 65357687 __UNKNOWN__ Intron SNP G G T rs77790423 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:65357687G>T ENST00000497477.2 - 18 2995 MAGI1_ENST00000483466.1_Intron|MAGI1_ENST00000402939.2_Intron|MAGI1_ENST00000330909.8_Intron Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 NA NA cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461) cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923) alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022) breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) atcttgttaaggtcaacatgt 0.388 NA T||| 1265 0.252596 0.3177 0.2622 5008 , , NA 18298 0.4077 NA 0.0258 False NA ,,, NA NA NA 2504 0.2311 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB010894 CCDS33780.1, CCDS33781.1, CCDS2904.1 3p14.1 2009-10-06 2005-05-10 2005-05-10 ENSG00000151276 ENSG00000151276 9223 946 protein-coding gene gene with protein product 602625 BAI1-associated protein 1 BAIAP1 NA 9647739, 9225980 Standard NM_004742 XM_005265563 NA Approved BAP1, MAGI-1, TNRC19, AIP3, WWP3 uc003dmn.3 Q96QZ7 OTTHUMG00000157554 ENST00000497477.2:c.2996-7066C>A chr3.hg19:g.65357687G>T NA A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9 hg19 0.02 2.296413 TAAxGTC COVERED NOVEL MAGI1-007 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000349132.2 1 3.611578 KEEP 0 0 0 12 417 GG 0.993634 0.97329 0 - 5 60 170 0 0 12.108362 51 60 1859 74 ENST00000497477.2 0.089286 0.979526 MAGI1 9223 __UNKNOWN__ __UNKNOWN__ 3 65416369 65416369 __UNKNOWN__ Intron SNP G G T rs148924626 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:65416369G>T ENST00000497477.2 - 11 1546 MAGI1_ENST00000470990.1_Intron|MAGI1_ENST00000483466.1_Intron|MAGI1_ENST00000402939.2_Intron|MAGI1_ENST00000330909.8_Intron Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 NA NA cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461) cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923) alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022) breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) CCATGTTGACGCTACCTGTTT 0.478 NA G||| 36 0.0071885 0.0015 0.0 5008 , , NA 19376 0.0308 NA 0.0 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 G ,, 2,4404 4.2+/-10.8 0,2,2201 180 154 163 ,, -3.4 0 3 dbSNP_134 163 3,8597 3.0+/-9.4 0,3,4297 no intron,intron,intron MAGI1 NM_001033057.1,NM_004742.2,NM_015520.1 ,, 0,5,6498 TT,TG,GG 0.0349,0.0454,0.0384 ,, ,, 65416369 5,13001 2203 4300 6503 SO:0001627 intron_variant AB010894 CCDS33780.1, CCDS33781.1, CCDS2904.1 3p14.1 2009-10-06 2005-05-10 2005-05-10 ENSG00000151276 ENSG00000151276 9223 946 protein-coding gene gene with protein product 602625 BAI1-associated protein 1 BAIAP1 NA 9647739, 9225980 Standard NM_004742 XM_005265563 NA Approved BAP1, MAGI-1, TNRC19, AIP3, WWP3 uc003dmn.3 Q96QZ7 OTTHUMG00000157554 ENST00000497477.2:c.1546+4C>A chr3.hg19:g.65416369G>T NA A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9 hg19 0.02 4.355004 GACxCTA COVERED NOVEL MAGI1-007 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000349132.2 1 5.115573 KEEP 0 0 0 17 548 GG 0.999366 0.999366 0 - 6 60 225 0 0 14.853982 122 60 3838 153 ENST00000497477.2 0.046875 1 FAM19A1 407738 __UNKNOWN__ __UNKNOWN__ 3 68055508 68055508 __UNKNOWN__ 5'UTR SNP C C T rs77498557 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:68055508C>T ENST00000496687.1 + 0 136 FAM19A1_ENST00000478136.1_Intron Q7Z5A9 F19A1_HUMAN family with sequence similarity 19 (chemokine (C-C motif)-like), member A1 NA NA endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576) central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1) 7 Lung NSC(201;0.0117) BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743) TAACTGATAGCCTAAAACTTT 0.328 NA T||| 503 0.100439 0.2428 0.0461 5008 , , NA 21425 0.1081 NA 0.0258 False NA ,,, NA NA NA 2504 0.0153 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AY325114 CCDS54606.1 3p14.1 2005-01-20 ENSG00000183662 ENSG00000183662 407738 21587 protein-coding gene gene with protein product NA 15028294 Standard NM_213609 NM_213609 NA Approved TAFA-1 uc003dnd.3 Q7Z5A9 OTTHUMG00000158745 ENST00000496687.1:c.-262C>T chr3.hg19:g.68055508C>T NA A8K0V3|Q8TCL8 hg19 CCDS54606.1 0.02 6.096165 TAGxCTA COVERED NOVEL FAM19A1-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000352005.1 4 8.126139 KEEP 0 0 0 27 942 CC 0.999988 0.999988 0 + 6 60 215 0 0 13.323395 150 60 5526 212 ENST00000496687.1 0.038462 1 FAM19A1 407738 __UNKNOWN__ __UNKNOWN__ 3 68587884 68587884 __UNKNOWN__ Intron SNP A A C rs3828366 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:68587884A>C ENST00000478136.1 + 4 749 FAM19A1_ENST00000496687.1_Intron NM_213609.3 NP_998774.2 Q7Z5A9 F19A1_HUMAN family with sequence similarity 19 (chemokine (C-C motif)-like), member A1 NA NA endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576) central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1) 7 Lung NSC(201;0.0117) BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743) TTGCAAACACAGTTGTTTCCT 0.453 NA A||| 1065 0.21266 0.1725 0.3617 5008 , , NA 18177 0.123 NA 0.333 False NA ,,, NA NA NA 2504 0.1299 NA NA NA NA 0 A 740,3148 69,602,1273 133 125 128 -0.6 0 3 dbSNP_107 128 2789,5515 492,1805,1855 no intron FAM19A1 NM_213609.2 561,2407,3128 CC,CA,AA 33.5862,19.0329,28.9452 68587884 3529,8663 1944 4152 6096 SO:0001627 intron_variant AY325114 CCDS54606.1 3p14.1 2005-01-20 ENSG00000183662 ENSG00000183662 407738 21587 protein-coding gene gene with protein product NA 15028294 Standard NM_213609 NM_213609 NA Approved TAFA-1 uc003dnd.3 Q7Z5A9 OTTHUMG00000158745 ENST00000478136.1:c.260-23A>C chr3.hg19:g.68587884A>C NA A8K0V3|Q8TCL8 hg19 CCDS54606.1 0.02 6.605011 CACxGTT COVERED NOVEL FAM19A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000352004.1 1 3.344016 KEEP 0 1 31 22 696 AA 0.999892 0.999892 0 + 13 60 472 0 0 32.848564 176 60 6574 252 ENST00000478136.1 0.068783 1 FAM19A4 151647 __UNKNOWN__ __UNKNOWN__ 3 68781319 68781319 __UNKNOWN__ 3'UTR SNP A A T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:68781319A>T ENST00000295569.7 - 0 1889 NM_001005527.2|NM_182522.4 NP_001005527.1|NP_872328.1 Q96LR4 F19A4_HUMAN family with sequence similarity 19 (chemokine (C-C motif)-like), member A4 NA NA extracellular region (GO:0005576) haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(5)|skin(2) 10 Lung NSC(201;0.0198) BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904) ATTTTAAAGAAATAAGATGGC 0.378 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY325117 CCDS2907.1 3p14.1 2014-08-14 ENSG00000163377 ENSG00000163377 151647 21591 protein-coding gene gene with protein product NA 15028294, 25109685 Standard NM_182522 NM_182522 NA Approved TAFA-4 uc021xah.1 Q96LR4 OTTHUMG00000158744 ENST00000295569.7:c.*974T>A chr3.hg19:g.68781319A>T NA A8MVT2 hg19 CCDS2907.1 0.02 8.334323 AGAxATA COVERED NOVEL FAM19A4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000352002.1 2 12.035927 KEEP 0 0 0 40 1258 AA 1 1 0 - 10 60 366 0 0 23.514058 220 60 7894 318 ENST00000295569.7 0.043478 1 EOGT 285203 __UNKNOWN__ __UNKNOWN__ 3 69038088 69038088 __UNKNOWN__ Silent SNP A A G rs13085120 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:69038088A>G ENST00000383701.3 - 11 1654 c.912T>C c.(910-912)taT>taC p.Y304Y EOGT_ENST00000295571.5_Intron|EOGT_ENST00000540764.1_Silent_p.Y203Y|EOGT_ENST00000540955.1_Silent_p.Y28Y NM_001278689.1 NP_001265618.1 Q5NDL2 EOGT_HUMAN EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase 304 NA protein O-linked glycosylation (GO:0006493) endoplasmic reticulum (GO:0005783) protein N-acetylglucosaminyltransferase activity (GO:0016262) NA TTTTGGAATCATAAGTTTTCA 0.328 NA A||| 876 0.17492 0.1014 0.1268 5008 , , NA 17628 0.2401 NA 0.1938 False NA ,,, NA NA NA 2504 0.2219 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001819 synonymous_variant AK091089 CCDS2908.1, CCDS63684.1 3p14.1 2013-10-11 2012-05-21 2012-05-21 ENSG00000163378 ENSG00000163378 285203 2.4.1.255 28526 protein-coding gene gene with protein product AER61 glycosyltransferase 614789 chromosome 3 open reading frame 64 C3orf64 NA 22310717 Standard NM_173654 NM_001278689 NA Approved AER61, FLJ33770 uc003dnk.3 Q5NDL2 OTTHUMG00000156279 ENST00000383701.3:c.912T>C chr3.hg19:g.69038088A>G NA A8K2U1|B4DFH5|L7X1M5|Q6MZY0|Q6P985|Q6ZTV0 hg19 0.02 4.159224 ATCxTAA COVERED NOVEL EOGT-002 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000343722.1 0 8.124062 KEEP 0 0 0 27 842 AA 0.999988 0.999985 0 - 6 60 200 0 0 12.619215 110 60 4093 168 ENST00000383701.3 0.051724 0.999997 TMF1 7110 __UNKNOWN__ __UNKNOWN__ 3 69091716 69091716 __UNKNOWN__ Intron SNP T T C rs2271120 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:69091716T>C ENST00000398559.2 - 5 1901 CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|TMF1_ENST00000543976.1_Intron P82094 TMF1_HUMAN TATA element modulatory factor 1 NA NA acrosome assembly (GO:0001675)|cellular response to organic cyclic compound (GO:0071407)|defense response to bacterium (GO:0042742)|Leydig cell differentiation (GO:0033327)|luteinizing hormone secretion (GO:0032275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|positive regulation of cytokine production (GO:0001819)|positive regulation of testosterone secretion (GO:2000845)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|sperm motility (GO:0030317)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366) endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634) DNA binding (GO:0003677)|transcription cofactor activity (GO:0003712) cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247) CACAAATTTCTGTCTATTTTA 0.328 NA T||| 873 0.174321 0.0946 0.1297 5008 , , NA 15675 0.2173 NA 0.2008 False NA ,,, NA NA NA 2504 0.2423 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS43105.1 3p21-p12 2009-02-11 ENSG00000144747 ENSG00000144747 7110 11870 protein-coding gene gene with protein product 601126 NA 1409643 Standard NM_007114 NM_007114 NA Approved ARA160, TMF uc003dnn.3 P82094 OTTHUMG00000158771 ENST00000398559.2:c.1684+241A>G chr3.hg19:g.69091716T>C NA B7ZLJ2|Q17R87|Q59GK0 hg19 CCDS43105.1 0.02 4.907748 TTCxGTC COVERED NOVEL TMF1-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000352106.1 1 9.261791 KEEP 0 1 32 42 1304 TT 1 1 0 - 6 60 230 0 0 15.245446 127 60 4777 207 ENST00000398559.2 0.045113 1 UBA3 9039 __UNKNOWN__ __UNKNOWN__ 3 69113153 69113153 __UNKNOWN__ Intron SNP T T C rs13090606 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:69113153T>C ENST00000361055.4 - 7 527 UBA3_ENST00000540295.1_Intron|UBA3_ENST00000415609.2_Intron|UBA3_ENST00000349511.4_Intron NM_003968.3 NP_003959.3 Q8TBC4 UBA3_HUMAN ubiquitin-like modifier activating enzyme 3 NA NA cellular protein modification process (GO:0006464)|endomitotic cell cycle (GO:0007113)|protein neddylation (GO:0045116)|proteolysis (GO:0006508)|regulation of cell cycle (GO:0051726) cytosol (GO:0005829)|nucleus (GO:0005634) acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|NEDD8 activating enzyme activity (GO:0019781)|protein heterodimerization activity (GO:0046982) endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 19 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241) CTAGCAATATTTGAATAGCTA 0.328 NA T||| 1133 0.226238 0.1952 0.1354 5008 , , NA 17611 0.3353 NA 0.1958 False NA ,,, NA NA NA 2504 0.2515 NA NA NA NA 0 T , 253,1131 26,201,465 50 46 48 , -4.9 0 3 dbSNP_121 48 586,2586 49,488,1049 no intron,intron UBA3 NM_003968.3,NM_198195.1 , 75,689,1514 CC,CT,TT 18.4741,18.2803,18.4153 , , 69113153 839,3717 692 1586 2278 SO:0001627 intron_variant AB012190 CCDS2909.1, CCDS2910.1 3p14.1 2013-09-26 2007-11-30 2007-11-30 ENSG00000144744 ENSG00000144744 9039 Ubiquitin-like modifier activating enzymes 12470 protein-coding gene gene with protein product NEDD8-activating enzyme E1 catalytic subunit, NEDD8-activating enzyme E1 subunit 2 603172 ubiquitin-activating enzyme E1C (homologous to yeast UBA3), ubiquitin-activating enzyme E1C (UBA3 homolog, yeast) UBE1C NA 9694792 Standard NM_198195 NM_003968 NA Approved hUba3, NAE2 uc003dno.3 Q8TBC4 OTTHUMG00000154325 ENST00000361055.4:c.472+65A>G chr3.hg19:g.69113153T>C NA A6NLB5|A8K027|O76088|Q9NTU3 hg19 CCDS2909.1 0.02 2.355679 TATxTGA COVERED NOVEL UBA3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000334839.1 0 11.132883 KEEP 0 0 0 37 1158 TT 1 0.997897 0 - 5 60 187 0 0 13.20174 67 60 2463 136 ENST00000361055.4 0.069444 0.997898 UBA3 9039 __UNKNOWN__ __UNKNOWN__ 3 69127133 69127133 __UNKNOWN__ Intron SNP T T C rs3772979 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:69127133T>C ENST00000361055.4 - 3 117 UBA3_ENST00000540295.1_Intron|UBA3_ENST00000415609.2_Intron|UBA3_ENST00000349511.4_Intron NM_003968.3 NP_003959.3 Q8TBC4 UBA3_HUMAN ubiquitin-like modifier activating enzyme 3 NA NA cellular protein modification process (GO:0006464)|endomitotic cell cycle (GO:0007113)|protein neddylation (GO:0045116)|proteolysis (GO:0006508)|regulation of cell cycle (GO:0051726) cytosol (GO:0005829)|nucleus (GO:0005634) acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|NEDD8 activating enzyme activity (GO:0019781)|protein heterodimerization activity (GO:0046982) endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 19 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241) CCTACAACTATTATGGTATCC 0.383 NA T||| 1339 0.267372 0.2829 0.1455 5008 , , NA 16831 0.375 NA 0.2276 False NA ,,, NA NA NA 2504 0.2628 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB012190 CCDS2909.1, CCDS2910.1 3p14.1 2013-09-26 2007-11-30 2007-11-30 ENSG00000144744 ENSG00000144744 9039 Ubiquitin-like modifier activating enzymes 12470 protein-coding gene gene with protein product NEDD8-activating enzyme E1 catalytic subunit, NEDD8-activating enzyme E1 subunit 2 603172 ubiquitin-activating enzyme E1C (homologous to yeast UBA3), ubiquitin-activating enzyme E1C (UBA3 homolog, yeast) UBE1C NA 9694792 Standard NM_198195 NM_003968 NA Approved hUba3, NAE2 uc003dno.3 Q8TBC4 OTTHUMG00000154325 ENST00000361055.4:c.63-64A>G chr3.hg19:g.69127133T>C NA A6NLB5|A8K027|O76088|Q9NTU3 hg19 CCDS2909.1 0.02 9.294982 CTAxTAT COVERED NOVEL UBA3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000334839.1 2 16.787302 KEEP 0 1 38 69 2245 TT 1 1 0 - 9 60 344 0 0 22.326417 214 60 7723 354 ENST00000361055.4 0.040359 1 LMOD3 56203 __UNKNOWN__ __UNKNOWN__ 3 69157099 69157099 __UNKNOWN__ 3'UTR SNP G G A rs3796214 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:69157099G>A ENST00000420581.2 - 0 3009 NM_198271.3 NP_938012.2 Q0VAK6 LMOD3_HUMAN leiomodin 3 (fetal) NA NA cytoplasm (GO:0005737)|cytoskeleton (GO:0005856) breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1) 13 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24) gatctgacccgggagttgaag 0.458 NA G||| 494 0.0986422 0.0696 0.0159 5008 , , NA 16057 0.2341 NA 0.0129 False NA ,,, NA NA NA 2504 0.1452 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK096900 CCDS46862.1 3p14.1 2003-03-07 ENSG00000163380 ENSG00000163380 56203 6649 protein-coding gene gene with protein product NA Standard XM_067529 NM_198271 NA Approved uc003dns.2 Q0VAK6 OTTHUMG00000158774 ENST00000420581.2:c.*1147C>T chr3.hg19:g.69157099G>A NA B4DT85|Q0JTT2|Q5JPG6|Q8IUK4|Q96LS4 hg19 CCDS46862.1 0.02 9.467526 CCCxGGA COVERED NOVEL LMOD3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000352138.1 1 15.647873 KEEP 0 0 0 52 1756 GG 1 1 0 - 14 60 528 0 0 36.686637 212 60 7344 338 ENST00000420581.2 0.061947 1 LMOD3 56203 __UNKNOWN__ __UNKNOWN__ 3 69157381 69157381 __UNKNOWN__ 3'UTR SNP C C T rs3796213 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:69157381C>T ENST00000420581.2 - 0 2727 NM_198271.3 NP_938012.2 Q0VAK6 LMOD3_HUMAN leiomodin 3 (fetal) NA NA cytoplasm (GO:0005737)|cytoskeleton (GO:0005856) breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1) 13 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24) AGAGTAAACACATATGAGCGT 0.313 NA T||| 1061 0.211861 0.4198 0.0504 5008 , , NA 19113 0.2976 NA 0.0199 False NA ,,, NA NA NA 2504 0.1544 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK096900 CCDS46862.1 3p14.1 2003-03-07 ENSG00000163380 ENSG00000163380 56203 6649 protein-coding gene gene with protein product NA Standard XM_067529 NM_198271 NA Approved uc003dns.2 Q0VAK6 OTTHUMG00000158774 ENST00000420581.2:c.*865G>A chr3.hg19:g.69157381C>T NA B4DT85|Q0JTT2|Q5JPG6|Q8IUK4|Q96LS4 hg19 CCDS46862.1 0.02 8.644579 ACAxATA COVERED NOVEL LMOD3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000352138.1 3 15.651121 KEEP 0 0 0 52 1862 CC 1 1 0 - 12 60 432 0 0 29.060096 194 70 7429 315 ENST00000420581.2 0.058252 1 LMOD3 56203 __UNKNOWN__ __UNKNOWN__ 3 69158094 69158094 __UNKNOWN__ 3'UTR SNP T T G rs1131960 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:69158094T>G ENST00000420581.2 - 0 2014 LMOD3_ENST00000475434.1_3'UTR|LMOD3_ENST00000489031.1_3'UTR NM_198271.3 NP_938012.2 Q0VAK6 LMOD3_HUMAN leiomodin 3 (fetal) NA NA cytoplasm (GO:0005737)|cytoskeleton (GO:0005856) breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1) 13 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24) GGCCCAAACATTCTGCCTTTT 0.393 NA T||| 494 0.0986422 0.0696 0.0159 5008 , , NA 16938 0.2341 NA 0.0129 False NA ,,, NA NA NA 2504 0.1452 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK096900 CCDS46862.1 3p14.1 2003-03-07 ENSG00000163380 ENSG00000163380 56203 6649 protein-coding gene gene with protein product NA Standard XM_067529 NM_198271 NA Approved uc003dns.2 Q0VAK6 OTTHUMG00000158774 ENST00000420581.2:c.*152A>C chr3.hg19:g.69158094T>G NA B4DT85|Q0JTT2|Q5JPG6|Q8IUK4|Q96LS4 hg19 CCDS46862.1 0.02 9.637828 ACAxTCT COVERED NOVEL LMOD3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000352138.1 0 10.831404 KEEP 0 0 0 36 1100 TT 0.999999 0.999999 0 - 10 60 387 0 0 25.850583 208 60 7481 280 ENST00000420581.2 0.045872 1 LMOD3 56203 __UNKNOWN__ __UNKNOWN__ 3 69158231 69158231 __UNKNOWN__ 3'UTR SNP T T C rs60474520 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:69158231T>C ENST00000420581.2 - 0 1877 LMOD3_ENST00000475434.1_3'UTR|LMOD3_ENST00000489031.1_3'UTR NM_198271.3 NP_938012.2 Q0VAK6 LMOD3_HUMAN leiomodin 3 (fetal) NA NA cytoplasm (GO:0005737)|cytoskeleton (GO:0005856) breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1) 13 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24) TTCTTCTAGATGGCTCTGTTG 0.428 NA T||| 495 0.0988419 0.0696 0.0159 5008 , , NA 18980 0.2351 NA 0.0129 False NA ,,, NA NA NA 2504 0.1452 NA NA NA NA 0 T 200,3658 5,190,1734 139 123 128 0.3 0 3 dbSNP_129 128 67,8181 0,67,4057 no utr-3 LMOD3 NM_198271.3 5,257,5791 CC,CT,TT 0.8123,5.184,2.2055 69158231 267,11839 1929 4124 6053 SO:0001624 3_prime_UTR_variant AK096900 CCDS46862.1 3p14.1 2003-03-07 ENSG00000163380 ENSG00000163380 56203 6649 protein-coding gene gene with protein product NA Standard XM_067529 NM_198271 NA Approved uc003dns.2 Q0VAK6 OTTHUMG00000158774 ENST00000420581.2:c.*15A>G chr3.hg19:g.69158231T>C NA B4DT85|Q0JTT2|Q5JPG6|Q8IUK4|Q96LS4 hg19 CCDS46862.1 0.02 13.987613 AGAxGGC COVERED NOVEL LMOD3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000352138.1 2 23.771933 KEEP 0 0 0 79 2496 TT 1 1 0 - 16 60 545 0 0 33.787489 341 60 12750 542 ENST00000420581.2 0.044818 1 LMOD3 56203 __UNKNOWN__ __UNKNOWN__ 3 69168864 69168864 __UNKNOWN__ Silent SNP C C T rs9815992 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:69168864C>T ENST00000420581.2 - 2 821 c.642G>A c.(640-642)tcG>tcA p.S214S LMOD3_ENST00000475434.1_Silent_p.S214S|LMOD3_ENST00000489031.1_Silent_p.S214S NM_198271.3 NP_938012.2 Q0VAK6 LMOD3_HUMAN leiomodin 3 (fetal) 214 NA cytoplasm (GO:0005737)|cytoskeleton (GO:0005856) breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1) 13 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24) GATCTAATTTCGATATTTTTT 0.428 NA T||| 511 0.102037 0.1218 0.0187 5008 , , NA 20582 0.1905 NA 0.003 False NA ,,, NA NA NA 2504 0.1452 NA NA NA NA 0 T 478,3270 31,416,1427 91 84 87 642 2.9 1 3 dbSNP_119 87 8,8198 0,8,4095 no coding-synonymous LMOD3 NM_198271.3 31,424,5522 TT,TC,CC 0.0975,12.7535,4.0656 214/561 69168864 486,11468 1874 4103 5977 SO:0001819 synonymous_variant AK096900 CCDS46862.1 3p14.1 2003-03-07 ENSG00000163380 ENSG00000163380 56203 6649 protein-coding gene gene with protein product NA Standard XM_067529 NM_198271 NA Approved uc003dns.2 Q0VAK6 OTTHUMG00000158774 ENST00000420581.2:c.642G>A chr3.hg19:g.69168864C>T NA B4DT85|Q0JTT2|Q5JPG6|Q8IUK4|Q96LS4 hg19 CCDS46862.1 0.02 13.100416 TTTxGAT COVERED NOVEL LMOD3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000352138.1 4 9.930925 KEEP 0 0 0 33 1082 CC 0.999998 0.999998 0 - 16 60 590 0 0 38.521221 329 60 11401 388 ENST00000420581.2 0.046377 1 FRMD4B 23150 __UNKNOWN__ __UNKNOWN__ 3 69219288 69219288 __UNKNOWN__ 3'UTR SNP G G A rs79274490 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:69219288G>A ENST00000398540.3 - 0 4912 FRMD4B_ENST00000542259.1_3'UTR NM_015123.1 NP_055938 Q9Y2L6 FRM4B_HUMAN FERM domain containing 4B NA NA establishment of epithelial cell polarity (GO:0090162) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|ruffle (GO:0001726) NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2) 19 Lung NSC(201;0.0138)|Prostate(884;0.11) BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182) tgtacatcccggaattaataa 0.313 NA G||| 402 0.0802716 0.0015 0.0115 5008 , , NA 15910 0.2302 NA 0.0089 False NA ,,, NA NA NA 2504 0.1544 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL832231 CCDS46863.1 3p14.2 2006-04-12 ENSG00000114541 ENSG00000114541 23150 24886 protein-coding gene gene with protein product NA 10231032, 11445584 Standard XM_005264720 NA Approved KIAA1013, GRSP1 uc003dnv.2 Q9Y2L6 OTTHUMG00000158772 ENST00000398540.3:c.*1724C>T chr3.hg19:g.69219288G>A NA Q8TAI3 hg19 CCDS46863.1 0.02 6.563266 CCCxGAA COVERED NOVEL FRMD4B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000352111.1 0 18.659575 KEEP 0 0 0 62 2107 GG 1 1 0 - 9 60 340 0 0 22.985453 162 60 5526 282 ENST00000398540.3 0.052632 1 FRMD4B 23150 __UNKNOWN__ __UNKNOWN__ 3 69242756 69242756 __UNKNOWN__ Intron SNP C C T rs7635306 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:69242756C>T ENST00000398540.3 - 17 1798 FRMD4B_ENST00000478263.1_Intron|FRMD4B_ENST00000542259.1_Intron NM_015123.1 NP_055938 Q9Y2L6 FRM4B_HUMAN FERM domain containing 4B NA NA establishment of epithelial cell polarity (GO:0090162) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|ruffle (GO:0001726) NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2) 19 Lung NSC(201;0.0138)|Prostate(884;0.11) BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182) CCATGAAGTACTGAGTAGGGG 0.368 NA T||| 698 0.139377 0.2186 0.0303 5008 , , NA 19698 0.2361 NA 0.003 False NA ,,, NA NA NA 2504 0.1503 NA NA NA NA 0 T 756,2886 85,586,1150 55 47 49 -2.6 0 3 dbSNP_116 49 13,8145 0,13,4066 no intron FRMD4B NM_015123.1 85,599,5216 TT,TC,CC 0.1594,20.7578,6.5169 69242756 769,11031 1821 4079 5900 SO:0001627 intron_variant AL832231 CCDS46863.1 3p14.2 2006-04-12 ENSG00000114541 ENSG00000114541 23150 24886 protein-coding gene gene with protein product NA 10231032, 11445584 Standard XM_005264720 NA Approved KIAA1013, GRSP1 uc003dnv.2 Q9Y2L6 OTTHUMG00000158772 ENST00000398540.3:c.1714+42G>A chr3.hg19:g.69242756C>T NA Q8TAI3 hg19 CCDS46863.1 0.02 6.088475 GTAxTGA COVERED NOVEL FRMD4B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000352111.1 3 10.831569 KEEP 0 0 0 36 1218 CC 0.999999 0.999999 0 - 8 60 292 0 0 18.617499 182 60 6743 249 ENST00000398540.3 0.042105 1 MITF 4286 __UNKNOWN__ __UNKNOWN__ 3 70016467 70016467 __UNKNOWN__ 3'UTR SNP C C T rs576 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:70016467C>T ENST00000352241.4 + 0 3794 MITF_ENST00000328528.6_3'UTR|MITF_ENST00000394355.2_3'UTR NM_198159.2 NP_937802.1 O75030 MITF_HUMAN microphthalmia-associated transcription factor NA NA bone remodeling (GO:0046849)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cell fate commitment (GO:0045165)|melanocyte differentiation (GO:0030318)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355) nucleus (GO:0005634)|protein complex (GO:0043234) chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227) NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2) 30 Lung NSC(201;0.0384)|Prostate(884;0.0526) BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239) AGAATAGTGACGCAAATCTGC 0.378 NA A melanoma Waardenburg syndrome type 2, Tietz syndrome T||| 1708 0.341054 0.4546 0.3228 5008 , , NA 18238 0.2937 NA 0.2575 False NA ,,, NA NA NA 2504 0.3354 NA NA NA Melanoma(29;269 969 31479 41502 42961) Dom yes 3 3p14.1 4286 microphthalmia-associated transcription factor yes E 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS2913.1, CCDS43106.1, CCDS43107.1, CCDS46865.1, CCDS46866.1, CCDS46866.2, CCDS54607.1, CCDS74962.1 3p14.1-p12.3 2014-09-17 ENSG00000187098 ENSG00000187098 4286 Basic helix-loop-helix proteins 7105 protein-coding gene gene with protein product homolog of mouse microphthalmia 156845 Waardenburg syndrome, type 2A WS2A, WS2 NA 8069297, 7874167, 7951321 Standard NM_198159 NM_198159 NA Approved MI, bHLHe32 uc003dnz.3 O75030 OTTHUMG00000149921 ENST00000352241.4:c.*2068C>T chr3.hg19:g.70016467C>T NA B4DJL2|D3K197|E9PFN0|Q14841|Q9P2V0|Q9P2V1|Q9P2V2|Q9P2Y8 hg19 CCDS43106.1 0.02 2.10676 TGAxGCA COVERED NOVEL MITF-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000313920.2 0 4.81555 KEEP 0 0 0 16 555 CC 0.997832 0.997636 0 + 5 60 175 0 0 11.530822 84 60 2999 123 ENST00000352241.4 0.05618 0.999804 MITF 4286 __UNKNOWN__ __UNKNOWN__ 3 70016904 70016904 __UNKNOWN__ 3'UTR SNP C C T rs704246 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:70016904C>T ENST00000352241.4 + 0 4231 MITF_ENST00000328528.6_3'UTR|MITF_ENST00000394355.2_3'UTR NM_198159.2 NP_937802.1 O75030 MITF_HUMAN microphthalmia-associated transcription factor NA NA bone remodeling (GO:0046849)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cell fate commitment (GO:0045165)|melanocyte differentiation (GO:0030318)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355) nucleus (GO:0005634)|protein complex (GO:0043234) chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227) NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2) 30 Lung NSC(201;0.0384)|Prostate(884;0.0526) BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239) GGATTCATTTCAGGGGCTAGC 0.463 NA A melanoma Waardenburg syndrome type 2, Tietz syndrome T||| 1479 0.295327 0.348 0.3026 5008 , , NA 16938 0.2679 NA 0.2445 False NA ,,, NA NA NA 2504 0.2996 NA NA NA Melanoma(29;269 969 31479 41502 42961) Dom yes 3 3p14.1 4286 microphthalmia-associated transcription factor yes E 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS2913.1, CCDS43106.1, CCDS43107.1, CCDS46865.1, CCDS46866.1, CCDS46866.2, CCDS54607.1, CCDS74962.1 3p14.1-p12.3 2014-09-17 ENSG00000187098 ENSG00000187098 4286 Basic helix-loop-helix proteins 7105 protein-coding gene gene with protein product homolog of mouse microphthalmia 156845 Waardenburg syndrome, type 2A WS2A, WS2 NA 8069297, 7874167, 7951321 Standard NM_198159 NM_198159 NA Approved MI, bHLHe32 uc003dnz.3 O75030 OTTHUMG00000149921 ENST00000352241.4:c.*2505C>T chr3.hg19:g.70016904C>T NA B4DJL2|D3K197|E9PFN0|Q14841|Q9P2V0|Q9P2V1|Q9P2V2|Q9P2Y8 hg19 CCDS43106.1 0.02 4.11319 TTTxAGG COVERED NOVEL MITF-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000313920.2 1 2.708243 KEEP 0 0 0 9 294 CC 0.99254 0.99254 0 + 10 60 344 0 0 23.590415 133 60 4957 168 ENST00000352241.4 0.06993 1 FOXP1 27086 __UNKNOWN__ __UNKNOWN__ 3 71021303 71021303 __UNKNOWN__ Intron SNP T T C rs76145927 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:71021303T>C ENST00000493089.1 - 18 2278 FOXP1_ENST00000318789.4_Intron|FOXP1_ENST00000491238.1_Intron|FOXP1_ENST00000475937.1_Intron|FOXP1_ENST00000498215.1_Intron|FOXP1_ENST00000468577.1_Intron|FOXP1_ENST00000484350.1_Intron NM_001244808.1 NP_001231737.1 Q9H334 FOXP1_HUMAN forkhead box P1 NA NA negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209) BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05) AAAGCACTTATGCAGTGAGAG 0.517 NA T PAX5 ALL T||| 46 0.0091853 0.0 0.0058 5008 , , NA 17855 0.0387 NA 0.003 False NA ,,, NA NA NA 2504 0.0 NA NA NA Dom yes 3 3p14.1 27086 forkhead box P1 L 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF146696 CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1 3p14.1 2008-07-18 ENSG00000114861 ENSG00000114861 27086 Forkhead boxes 3823 protein-coding gene gene with protein product fork head-related protein like B, glutamine-rich factor 1, PAX5/FOXP1 fusion protein 605515 NA 8265594, 11751404 Standard NM_032682 NM_032682 NA Approved QRF1, 12CC4, HSPC215, hFKH1B uc003doj.3 Q9H334 OTTHUMG00000158803 ENST00000493089.1:c.1649+402A>G chr3.hg19:g.71021303T>C NA A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1 hg19 CCDS58839.1 0.02 6.5132 TTAxGCA COVERED NOVEL FOXP1-002 NOVEL basic|appris_candidate|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000352251.1 2 7.824439 KEEP 0 0 0 26 842 TT 0.999957 0.999957 0 - 6 60 217 0 0 13.55908 148 60 5436 209 ENST00000493089.1 0.038961 1 FOXP1 27086 __UNKNOWN__ __UNKNOWN__ 3 71247304 71247304 __UNKNOWN__ Intron SNP A A G rs2037474 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:71247304A>G ENST00000493089.1 - 6 809 FOXP1_ENST00000318789.4_Intron|FOXP1_ENST00000318779.3_Intron|FOXP1_ENST00000475937.1_Intron|FOXP1_ENST00000498215.1_Intron|FOXP1_ENST00000468577.1_Intron|FOXP1_ENST00000484350.1_Intron NM_001244808.1 NP_001231737.1 Q9H334 FOXP1_HUMAN forkhead box P1 NA NA negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209) BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05) ATTCAGCAGTAAAATTCGCAC 0.532 NA T PAX5 ALL A||| 1414 0.282348 0.2723 0.3429 5008 , , NA 14652 0.4355 NA 0.1362 False NA ,,, NA NA NA 2504 0.2454 NA NA NA Dom yes 3 3p14.1 27086 forkhead box P1 L 0 A , 1126,3280 391.4+/-328.1 150,826,1227 32 35 34 , -4.9 0 3 dbSNP_94 34 1029,7571 214.3+/-254.0 69,891,3340 no intron,intron FOXP1 NM_001012505.1,NM_032682.5 , 219,1717,4567 GG,GA,AA 11.9651,25.5561,16.5693 , , 71247304 2155,10851 2203 4300 6503 SO:0001627 intron_variant AF146696 CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1 3p14.1 2008-07-18 ENSG00000114861 ENSG00000114861 27086 Forkhead boxes 3823 protein-coding gene gene with protein product fork head-related protein like B, glutamine-rich factor 1, PAX5/FOXP1 fusion protein 605515 NA 8265594, 11751404 Standard NM_032682 NM_032682 NA Approved QRF1, 12CC4, HSPC215, hFKH1B uc003doj.3 Q9H334 OTTHUMG00000158803 ENST00000493089.1:c.180+48T>C chr3.hg19:g.71247304A>G NA A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1 hg19 CCDS58839.1 0.02 23.680141 AGTxAAA COVERED NOVEL FOXP1-002 NOVEL basic|appris_candidate|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000352251.1 2 47.899947 KEEP 0 5 147 211 6329 AA 1 1 0 - 19 60 704 0 0 44.182922 505 60 17996 925 ENST00000493089.1 0.03626 1 EIF4E3 317649 __UNKNOWN__ __UNKNOWN__ 3 71748911 71748911 __UNKNOWN__ Intron SNP A A T rs62246325 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:71748911A>T ENST00000425534.3 - 3 257 EIF4E3_ENST00000448225.1_Intron|EIF4E3_ENST00000389826.3_Intron|EIF4E3_ENST00000295612.3_Intron|EIF4E3_ENST00000468147.1_Intron|EIF4E3_ENST00000421769.2_Intron NM_001134651.1 NP_001128123.1 Q8N5X7 IF4E3_HUMAN eukaryotic translation initiation factor 4E family member 3 NA NA cytokine-mediated signaling pathway (GO:0019221)|regulation of translation (GO:0006417) cytosol (GO:0005829)|mRNA cap binding complex (GO:0005845) translation initiation factor activity (GO:0003743) large_intestine(1)|lung(3) 4 Prostate(10;0.0166) BRCA - Breast invasive adenocarcinoma(55;2.56e-05)|Epithelial(33;2.9e-05)|Lung(16;9.28e-05)|LUSC - Lung squamous cell carcinoma(21;0.00227) TTGATTTATTATGCTGCTAGA 0.279 NA A||| 978 0.195288 0.1899 0.0994 5008 , , NA 20002 0.3591 NA 0.1243 False NA ,,, NA NA NA 2504 0.1748 NA NA NA NA 0 A ,,, 278,1104 25,228,438 20 16 18 ,,, -5.8 0 3 dbSNP_129 18 374,2802 29,316,1243 no intron,intron,intron,intron EIF4E3 NM_001134649.1,NM_001134650.1,NM_001134651.1,NM_173359.4 ,,, 54,544,1681 TT,TA,AA 11.7758,20.1158,14.3045 ,,, ,,, 71748911 652,3906 691 1588 2279 SO:0001627 intron_variant AK126999 CCDS33786.1, CCDS46867.1 3p14 2008-02-05 2006-11-13 ENSG00000163412 ENSG00000163412 317649 31837 protein-coding gene gene with protein product 609896 eukaryotic translation initiation factor 4E member 3 NA 15153109 Standard NM_173359 NM_173359 NA Approved MGC39820 uc003dov.4 Q8N5X7 OTTHUMG00000158797 ENST00000425534.3:c.250-52T>A chr3.hg19:g.71748911A>T NA B2R963|Q6NUT1 hg19 CCDS46867.1 0.02 8.91039 ATTxTGC COVERED NOVEL EIF4E3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000352294.2 1 12.936596 KEEP 0 0 0 43 1287 AA 1 1 0 - 11 60 412 0 0 26.980961 233 60 8564 308 ENST00000425534.3 0.045082 1 GXYLT2 727936 __UNKNOWN__ __UNKNOWN__ 3 73025069 73025069 __UNKNOWN__ 3'UTR SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:73025069C>T ENST00000389617.4 + 0 2252 NM_001080393.1 NP_001073862.1 A0PJZ3 GXLT2_HUMAN glucoside xylosyltransferase 2 NA NA O-glycan processing (GO:0016266) integral component of membrane (GO:0016021) UDP-xylosyltransferase activity (GO:0035252) NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 18 tcttctttttctttctttctt 0.368 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AC098481 CCDS46870.1 3p13 2013-02-22 2009-11-17 2009-11-17 ENSG00000172986 ENSG00000172986 727936 Glycosyltransferase family 8 domain containing 33383 protein-coding gene gene with protein product 613322 glycosyltransferase 8 domain containing 4 GLT8D4 NA 19940119 Standard NM_001080393 NM_001080393 NA Approved uc003dpg.3 A0PJZ3 OTTHUMG00000158815 ENST00000389617.4:c.*759C>T chr3.hg19:g.73025069C>T NA hg19 CCDS46870.1 0.02 -0.380656 TTTxTTT COVERED NOVEL GXYLT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000352318.1 4 2.70848 KEEP 0 0 0 9 307 CC 0.99254 0.911321 0 + 9 70 148 2 0 9.632232 34 60 1220 60 ENST00000389617.4 0.209302 0.918171 EBLN2 55096 __UNKNOWN__ __UNKNOWN__ 3 73111368 73111368 __UNKNOWN__ Missense_Mutation SNP T T C rs2231924 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:73111368T>C ENST00000533473.1 + 1 559 c.136T>C c.(136-138)Tcc>Ccc p.S46P PPP4R2_ENST00000295862.9_Intron|PPP4R2_ENST00000356692.5_Intron|PPP4R2_ENST00000394284.3_Intron NM_018029.3 NP_060499.3 Q6P2I7 EBLN2_HUMAN endogenous Bornavirus-like nucleoprotein 2 46 NA endometrium(1)|large_intestine(3)|lung(1)|prostate(1) 6 GAACCAATTTTCCACAATGTC 0.418 NA C||| 2637 0.526558 0.6188 0.3689 5008 , , NA 17712 0.4514 NA 0.508 False NA ,,, NA NA NA 2504 0.6104 NA NA NA NA 0 C PRO/SER, 2389,1425 746,897,264 38 36 37 136, -0.5 0 3 dbSNP_98 37 4205,4035 1078,2049,993 yes missense,intron EBLN2,PPP4R2 NM_018029.3,NM_174907.2 74, 1824,2946,1257 CC,CT,TT 48.9684,37.3623,45.2962 benign, 46/273, 73111368 6594,5460 1907 4120 6027 SO:0001583 missense CCDS54608.1 3p13 2011-06-03 ENSG00000255423 ENSG00000255423 55096 25493 protein-coding gene gene with protein product endogenous Borna-like N element 2 613250 NA 20054395, 20686665 Standard NM_018029 NM_018029 NA Approved uc003dpj.3 Q6P2I7 OTTHUMG00000165897 ENST00000533473.1:c.136T>C chr3.hg19:g.73111368T>C ENSP00000432104:p.Ser46Pro NA Q8WWH3|Q9NW89 hg19 CCDS54608.1 0.02 6.8773 TTTxCCA COVERED 1073 0.4913003663003663 301 0.6117886178861789 143 0.39502762430939226 249 0.4353146853146853 380 0.5013192612137203 C 0.507 -0.868432 0.02590 0.626377 0.510316 ENSG00000255423 ENST00000533473 . . . 0.587 -0.462 0.12168 . . . . . T 0.00012 0.0000 N 0.08118 0 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.41752 -0.9491 6 0.18710 T 0.47 . . . . rs2231924;rs3732439;rs52803163;rs2231924 46 Q6P2I7 EBLN2_HUMAN P 46 . ENSP00000432104:S46P S + 1 0 EBLN2 73194058 0.005000 0.15991 0.003000 0.11579 0.006000 0.05464 -1.034000 0.03567 -1.023000 0.03342 -0.684000 0.03749 TCC NOVEL EBLN2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000386932.1 2 5.649547 KEEP 0 1 35 31 933 TT 0.999997 0.999997 0 + 8 60 303 0 0 20.372021 150 60 5273 219 ENST00000533473.1 0.050633 1 EBLN2 55096 __UNKNOWN__ __UNKNOWN__ 3 73111809 73111809 __UNKNOWN__ Missense_Mutation SNP A A G rs2231926 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:73111809A>G ENST00000533473.1 + 1 1000 c.577A>G c.(577-579)Att>Gtt p.I193V PPP4R2_ENST00000295862.9_Intron|PPP4R2_ENST00000356692.5_Intron|PPP4R2_ENST00000394284.3_Intron NM_018029.3 NP_060499.3 Q6P2I7 EBLN2_HUMAN endogenous Bornavirus-like nucleoprotein 2 193 NA endometrium(1)|large_intestine(3)|lung(1)|prostate(1) 6 TTTGATAGGCATTGCGGCTGG 0.448 NA G||| 2635 0.526158 0.618 0.3689 5008 , , NA 22330 0.4504 NA 0.508 False NA ,,, NA NA NA 2504 0.6104 NA NA NA NA 0 G VAL/ILE, 2504,1466 792,920,273 71 72 72 577, -0.6 0 3 dbSNP_98 72 4270,4038 1096,2078,980 yes missense,intron EBLN2,PPP4R2 NM_018029.3,NM_174907.2 29, 1888,2998,1253 GG,GA,AA 48.6038,36.927,44.8281 benign, 193/273, 73111809 6774,5504 1985 4154 6139 SO:0001583 missense CCDS54608.1 3p13 2011-06-03 ENSG00000255423 ENSG00000255423 55096 25493 protein-coding gene gene with protein product endogenous Borna-like N element 2 613250 NA 20054395, 20686665 Standard NM_018029 NM_018029 NA Approved uc003dpj.3 Q6P2I7 OTTHUMG00000165897 ENST00000533473.1:c.577A>G chr3.hg19:g.73111809A>G ENSP00000432104:p.Ile193Val NA Q8WWH3|Q9NW89 hg19 CCDS54608.1 0.02 12.137785 GGCxTTG COVERED 1072 0.4908424908424908 301 0.6117886178861789 143 0.39502762430939226 248 0.43356643356643354 380 0.5013192612137203 G 0 -2.810176 0.00074 0.63073 0.513962 ENSG00000255423 ENST00000533473 . . . 0.468 -0.603 0.11630 P40 nucleoprotein, subdomain 1, Borna disease virus (1); . . . . T 0.00012 0.0000 N 0.03608 -0.345 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.43097 -0.9412 6 0.02654 T 1 . . . . rs2231926;rs3821377;rs52822828;rs2231926 193 Q6P2I7 EBLN2_HUMAN V 193 . ENSP00000432104:I193V I + 1 0 EBLN2 73194499 0.001000 0.12720 0.000000 0.03702 0.000000 0.00434 -2.665000 0.00848 -1.385000 0.02101 -1.383000 0.01170 ATT NOVEL EBLN2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000386932.1 5 14.077201 KEEP 0 1 35 59 1857 AA 1 1 0 + 10 60 354 0 0 20.580582 331 60 12173 455 ENST00000533473.1 0.029326 1 EBLN2 55096 __UNKNOWN__ __UNKNOWN__ 3 73111973 73111973 __UNKNOWN__ Silent SNP A A G rs2231928 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:73111973A>G ENST00000533473.1 + 1 1164 c.741A>G c.(739-741)ccA>ccG p.P247P PPP4R2_ENST00000295862.9_Intron|PPP4R2_ENST00000356692.5_Intron|PPP4R2_ENST00000394284.3_Intron NM_018029.3 NP_060499.3 Q6P2I7 EBLN2_HUMAN endogenous Bornavirus-like nucleoprotein 2 247 NA endometrium(1)|large_intestine(3)|lung(1)|prostate(1) 6 GCTCAAGACCATGGGTTGGAG 0.438 NA G||| 3079 0.614816 0.888 0.3991 5008 , , NA 21782 0.4931 NA 0.5099 False NA ,,, NA NA NA 2504 0.6319 NA NA NA NA 0 G , 3237,615 1373,491,62 184 189 188 741, -0.9 0 3 dbSNP_98 188 4245,4013 1087,2071,971 yes coding-synonymous,intron EBLN2,PPP4R2 NM_018029.3,NM_174907.2 , 2460,2562,1033 GG,GA,AA 48.5953,15.9657,38.2164 , 247/273, 73111973 7482,4628 1926 4129 6055 SO:0001819 synonymous_variant CCDS54608.1 3p13 2011-06-03 ENSG00000255423 ENSG00000255423 55096 25493 protein-coding gene gene with protein product endogenous Borna-like N element 2 613250 NA 20054395, 20686665 Standard NM_018029 NM_018029 NA Approved uc003dpj.3 Q6P2I7 OTTHUMG00000165897 ENST00000533473.1:c.741A>G chr3.hg19:g.73111973A>G NA Q8WWH3|Q9NW89 hg19 CCDS54608.1 0.02 18.059114 ACCxTGG COVERED NOVEL EBLN2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000386932.1 3 16.915731 KEEP 0 2 68 80 2461 AA 1 1 0 + 14 60 493 0 0 28.62811 458 60 16672 670 ENST00000533473.1 0.029661 1 EBLN2 55096 __UNKNOWN__ __UNKNOWN__ 3 73111998 73111998 __UNKNOWN__ Missense_Mutation SNP C C T rs1060584 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:73111998C>T ENST00000533473.1 + 1 1189 c.766C>T c.(766-768)Ctt>Ttt p.L256F PPP4R2_ENST00000295862.9_Intron|PPP4R2_ENST00000356692.5_Intron|PPP4R2_ENST00000394284.3_Intron NM_018029.3 NP_060499.3 Q6P2I7 EBLN2_HUMAN endogenous Bornavirus-like nucleoprotein 2 256 NA endometrium(1)|large_intestine(3)|lung(1)|prostate(1) 6 AATGTTCACACTTCTATTTGG 0.428 NA T||| 2634 0.525958 0.618 0.3689 5008 , , NA 22212 0.4504 NA 0.508 False NA ,,, NA NA NA 2504 0.6094 NA NA NA NA 0 T PHE/LEU, 2428,1434 764,900,267 191 196 195 766, -0.7 0 3 dbSNP_86 195 4235,4021 1083,2069,976 yes missense,intron EBLN2,PPP4R2 NM_018029.3,NM_174907.2 22, 1847,2969,1243 TT,TC,CC 48.704,37.131,45.0157 benign, 256/273, 73111998 6663,5455 1931 4128 6059 SO:0001583 missense CCDS54608.1 3p13 2011-06-03 ENSG00000255423 ENSG00000255423 55096 25493 protein-coding gene gene with protein product endogenous Borna-like N element 2 613250 NA 20054395, 20686665 Standard NM_018029 NM_018029 NA Approved uc003dpj.3 Q6P2I7 OTTHUMG00000165897 ENST00000533473.1:c.766C>T chr3.hg19:g.73111998C>T ENSP00000432104:p.Leu256Phe NA Q8WWH3|Q9NW89 hg19 CCDS54608.1 0.02 19.239102 ACAxTTC COVERED 1072 0.4908424908424908 301 0.6117886178861789 143 0.39502762430939226 248 0.43356643356643354 380 0.5013192612137203 T 1.100 -0.661497 0.03454 0.62869 0.51296 ENSG00000255423 ENST00000533473 . . . 0.468 -0.722 0.11184 P40 nucleoprotein, subdomain 1, Borna disease virus (1); . . . . T 0.00012 0.0000 N 0.08118 0 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.41680 -0.9495 6 0.24483 T 0.36 . . . . rs1060584;rs3172277;rs3732436;rs61042197;rs1060584 256 Q6P2I7 EBLN2_HUMAN F 256 . ENSP00000432104:L256F L + 1 0 EBLN2 73194688 0.005000 0.15991 0.000000 0.03702 0.000000 0.00434 -0.622000 0.05553 -1.287000 0.02381 -1.305000 0.01319 CTT NOVEL EBLN2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000386932.1 3 10.774529 KEEP 0 4 120 78 2807 CC 1 1 0 + 15 60 548 0 0 33.237097 447 60 17061 675 ENST00000533473.1 0.032468 1 PPP4R2 151987 __UNKNOWN__ __UNKNOWN__ 3 73115786 73115786 __UNKNOWN__ 3'UTR SNP T T C rs3172278 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:73115786T>C ENST00000356692.5 + 0 2420 PPP4R2_ENST00000295862.9_3'UTR|PPP4R2_ENST00000394284.3_3'UTR Q9NY27 PP4R2_HUMAN protein phosphatase 4, regulatory subunit 2 NA NA cellular protein modification process (GO:0006464)|hematopoietic progenitor cell differentiation (GO:0002244)|mRNA processing (GO:0006397)|regulation of catalytic activity (GO:0050790)|regulation of double-strand break repair via homologous recombination (GO:0010569)|RNA splicing (GO:0008380) centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289) protein binding, bridging (GO:0030674)|protein phosphatase type 4 regulator activity (GO:0030362) breast(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)|urinary_tract(2) 12 Prostate(10;0.0187)|Lung SC(41;0.236) Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031) AAGAACCAAGTAGGTTCCTTG 0.323 NA C||| 2631 0.525359 0.615 0.3689 5008 , , NA 16754 0.4514 NA 0.508 False NA ,,, NA NA NA 2504 0.6094 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ271448 CCDS2917.1 3q29 2010-06-18 ENSG00000163605 ENSG00000163605 151987 Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits 18296 protein-coding gene gene with protein product 613822 NA 10769191 Standard NM_174907 NM_174907 NA Approved uc003dph.1 Q9NY27 OTTHUMG00000158816 ENST00000356692.5:c.*913T>C chr3.hg19:g.73115786T>C NA A8K1I6|Q2TAJ9|Q498B8|Q8WXX6 hg19 CCDS2917.1 0.02 6.686092 AAGxAGG COVERED NOVEL PPP4R2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000352321.1 2 5.416497 KEEP 0 0 0 18 569 TT 0.99986 0.99986 0 + 7 60 263 0 0 17.217009 150 60 5335 204 ENST00000356692.5 0.044586 1 PPP4R2 151987 __UNKNOWN__ __UNKNOWN__ 3 73116437 73116437 __UNKNOWN__ 3'UTR SNP C C G rs1122474 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:73116437C>G ENST00000356692.5 + 0 3071 Q9NY27 PP4R2_HUMAN protein phosphatase 4, regulatory subunit 2 NA NA cellular protein modification process (GO:0006464)|hematopoietic progenitor cell differentiation (GO:0002244)|mRNA processing (GO:0006397)|regulation of catalytic activity (GO:0050790)|regulation of double-strand break repair via homologous recombination (GO:0010569)|RNA splicing (GO:0008380) centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289) protein binding, bridging (GO:0030674)|protein phosphatase type 4 regulator activity (GO:0030362) breast(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)|urinary_tract(2) 12 Prostate(10;0.0187)|Lung SC(41;0.236) Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031) AAAACTGATGCAAACAGTTTC 0.338 NA C||| 2134 0.426118 0.4259 0.3055 5008 , , NA 15413 0.376 NA 0.4423 False NA ,,, NA NA NA 2504 0.547 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ271448 CCDS2917.1 3q29 2010-06-18 ENSG00000163605 ENSG00000163605 151987 Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits 18296 protein-coding gene gene with protein product 613822 NA 10769191 Standard NM_174907 NM_174907 NA Approved uc003dph.1 Q9NY27 OTTHUMG00000158816 ENST00000356692.5:c.*1564C>G chr3.hg19:g.73116437C>G NA A8K1I6|Q2TAJ9|Q498B8|Q8WXX6 hg19 CCDS2917.1 0.02 8.691525 ATGxAAA COVERED NOVEL PPP4R2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000352321.1 1 3.51871 KEEP 0 3 101 47 1707 CC 1 1 0 + 8 60 302 0 0 19.227703 204 60 7845 322 ENST00000356692.5 0.037736 1 PDZRN3 23024 __UNKNOWN__ __UNKNOWN__ 3 73618579 73618579 __UNKNOWN__ Intron SNP C C T rs59217439 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:73618579C>T ENST00000263666.4 - 3 1033 PDZRN3_ENST00000308537.4_Intron NM_015009.1 NP_055824.1 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 NA NA neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567) neuromuscular junction (GO:0031594) ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) ctgtctcttccatgtcacgtt 0.493 NA C||| 2155 0.430312 0.4153 0.4207 5008 , , NA 20284 0.3938 NA 0.4702 False NA ,,, NA NA NA 2504 0.454 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB029018 CCDS33789.1 3p14.1 2013-01-09 2008-08-14 ENSG00000121440 ENSG00000121440 23024 RING-type (C3HC4) zinc fingers 17704 protein-coding gene gene with protein product likely ortholog of mouse semaF cytoplasmic domain associated protein 3 609729 NA 10470851 Standard XM_041363 XM_005264718 NA Approved KIAA1095, SEMACAP3, LNX3 uc003dpl.1 Q9UPQ7 OTTHUMG00000158865 ENST00000263666.4:c.918+32925G>A chr3.hg19:g.73618579C>T NA A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2 hg19 CCDS33789.1 0.02 8.753106 TTCxATG COVERED NOVEL PDZRN3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000352460.1 0 13.22739 KEEP 0 0 0 44 1539 CC 1 1 0 - 8 60 299 0 0 19.047257 197 60 7460 320 ENST00000263666.4 0.039024 1 CNTN3 5067 __UNKNOWN__ __UNKNOWN__ 3 74312218 74312218 __UNKNOWN__ 3'UTR SNP G G A rs516329 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:74312218G>A ENST00000263665.6 - 0 4448 NM_020872.1 NP_065923.1 Q9P232 CNTN3_HUMAN contactin 3 (plasmacytoma associated) NA NA cell adhesion (GO:0007155)|nervous system development (GO:0007399) anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886) NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 83 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) TGTTGGAAATGTGAACAAGTT 0.279 NA A||| 2282 0.455671 0.7927 0.4035 5008 , , NA 17146 0.3214 NA 0.2992 False NA ,,, NA NA NA 2504 0.3364 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB040929 CCDS33790.1 3p12.3 2013-02-11 ENSG00000113805 ENSG00000113805 5067 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing 2173 protein-coding gene gene with protein product 601325 PANG NA 8661054, 8586965 Standard NM_020872 XM_005264757 NA Approved BIG-1 uc003dpm.1 Q9P232 OTTHUMG00000158813 ENST00000263665.6:c.*1334C>T chr3.hg19:g.74312218G>A NA B9EK50|Q9H039 hg19 CCDS33790.1 0.02 6.613613 AATxTGA COVERED NOVEL CNTN3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000352306.1 1 9.330559 KEEP 0 0 0 31 1113 GG 0.999997 0.999997 0 - 6 60 229 0 0 14.227042 182 60 6894 250 ENST00000263665.6 0.031915 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 75263722 75263722 __UNKNOWN__ IGR SNP A A G rs7635785 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:75263722A>G NA NA MIR4444-1 (22 upstream) : AC117481.1 (131567 downstream) NA NA NA ACCGCCGCCCAGTCGCCCCCA 0.617 NA -||| 2845 0.568091 0.6067 0.6009 5008 , , NA 12210 0.7302 NA 0.3052 False NA ,,, NA NA NA 2504 0.5961 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.75263722A>G NA hg19 0.02 1.726724 CCCxGTC COVERED NOVEL 0 3 11.433724 KEEP 0 0 0 38 1183 AA 1 0.999726 0 5 60 163 0 0 10.411863 81 60 2871 146 0.05814 0.999726 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 75373177 75373177 __UNKNOWN__ IGR SNP A A G rs6549722 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:75373177A>G NA NA MIR4444-1 (109477 upstream) : AC117481.1 (22112 downstream) NA NA NA tttgtcttcaagttaaacagt 0.338 NA G||| 1857 0.370807 0.7466 0.3184 5008 , , NA 17338 0.2431 NA 0.1004 False NA ,,, NA NA NA 2504 0.3098 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.75373177A>G NA hg19 0.02 2.431889 TCAxGTT COVERED NOVEL 0 0 3.912329 KEEP 0 0 0 13 428 AA 0.994391 0.992864 0 4 60 156 0 0 10.735052 71 60 2522 108 0.053333 0.998465 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 75377715 75377715 __UNKNOWN__ IGR SNP C C T rs4677496 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:75377715C>T NA NA MIR4444-1 (114015 upstream) : AC117481.1 (17574 downstream) NA NA NA TGGGAGAGGACGATGAACTTG 0.582 NA T||| 1911 0.381589 0.5938 0.3314 5008 , , NA 18563 0.5308 NA 0.0815 False NA ,,, NA NA NA 2504 0.2853 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.75377715C>T NA hg19 0.02 11.325692 GGAxGAT COVERED NOVEL 0 1 14.445287 KEEP 0 0 0 48 1655 CC 1 1 0 22 60 810 0 0 57.422083 276 60 9713 433 0.073826 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 75679872 75679872 __UNKNOWN__ IGR SNP C C T rs200814675 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:75679872C>T NA NA CTD-2026G6.3 (50722 upstream) : MIR1324 (41 downstream) NA NA NA TCCATGCACACAGAGGATGCA 0.597 NA NA NA NA NA NA NA NA NA NA NA 0 4 3 3 NA NA 3 NA 75679872 1038 2542 3580 SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.75679872C>T NA hg19 0.02 15.752788 ACAxAGA COVERED NOVEL 0 3 3.611569 KEEP 26 0 0 12 413 CC 0.993072 0.993072 0 20 40 710 0 0 55.814215 117 48 4261 415 0.145985 1 MIR1324 100302212 __UNKNOWN__ __UNKNOWN__ 3 75679944 75679944 __UNKNOWN__ RNA SNP C C T rs7614638 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:75679944C>T ENST00000408868.1 + 0 31 NR_031714.1 microRNA 1324 NA NA NA CTGGTCCTGCCCTCACTGGGA 0.547 NA NA NA NA NA NA NA NA NA NA NA 0 48 51 50 NA NA 3 NA 75679944 1568 3576 5144 3 2011-09-12 2008-12-18 ENSG00000221795 ENSG00000221795 100302212 ncRNAs / Micro RNAs 35377 non-coding RNA RNA, micro MIRN1324 NA Standard NR_031714 NR_031714 NA Approved hsa-mir-1324 uc021xar.1 ENST00000408868.1: chr3.hg19:g.75679944C>T NA hg19 0.02 37.711873 TGCxCTC COVERED NOVEL MIR1324-201 KNOWN basic miRNA NA miRNA 4 15.85207 KEEP 19 3 86 83 2806 CC 1 1 0 + 29 49 1071 0 0 79.123266 281 50 10054 1054 ENST00000408868.1 0.093548 1 MIR1324 100302212 __UNKNOWN__ __UNKNOWN__ 3 75679945 75679945 __UNKNOWN__ RNA SNP C C G rs201625997 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:75679945C>G ENST00000408868.1 + 0 32 NR_031714.1 microRNA 1324 NA NA NA TGGTCCTGCCCTCACTGGGAA 0.542 NA NA NA NA NA NA NA NA NA NA NA 0 50 53 52 NA NA 3 NA 75679945 1568 3578 5146 3 2011-09-12 2008-12-18 ENSG00000221795 ENSG00000221795 100302212 ncRNAs / Micro RNAs 35377 non-coding RNA RNA, micro MIRN1324 NA Standard NR_031714 NR_031714 NA Approved hsa-mir-1324 uc021xar.1 ENST00000408868.1: chr3.hg19:g.75679945C>G NA hg19 0.02 35.321907 GCCxTCA COVERED NOVEL MIR1324-201 KNOWN basic miRNA NA miRNA 4 5.353514 KEEP 19 4 126 62 2096 CT 1 1 0 + 43 49 1448 0 0 111.071664 268 50 9644 1064 ENST00000408868.1 0.138264 1 MIR1324 100302212 __UNKNOWN__ __UNKNOWN__ 3 75680006 75680006 __UNKNOWN__ RNA SNP T T C rs58827088 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:75680006T>C ENST00000408868.1 + 0 93 NR_031714.1 microRNA 1324 NA NA NA TCCTGGAGGCTCCATGCTGGT 0.527 NA NA NA NA NA NA NA NA NA NA NA 0 52 50 51 NA NA 3 NA 75680006 1568 3573 5141 3 2011-09-12 2008-12-18 ENSG00000221795 ENSG00000221795 100302212 ncRNAs / Micro RNAs 35377 non-coding RNA RNA, micro MIRN1324 NA Standard NR_031714 NR_031714 NA Approved hsa-mir-1324 uc021xar.1 ENST00000408868.1: chr3.hg19:g.75680006T>C NA hg19 0.02 40.109329 GGCxCCA COVERED NOVEL MIR1324-201 KNOWN basic miRNA NA miRNA 4 30.913123 KEEP 29 9 304 209 6805 TT 1 1 0 + 45 60 1700 1 0 130.280082 357 60 13201 1338 ENST00000408868.1 0.11194 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 75680010 75680010 __UNKNOWN__ IGR SNP T T C rs75174508 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:75680010T>C NA NA MIR1324 (1 upstream) : FRG2C (33470 downstream) NA NA NA GGAGGCTCCATGCTGGTCTGT 0.527 NA NA NA NA NA NA NA NA NA NA NA 0 45 44 44 NA NA 3 NA 75680010 1568 3572 5140 SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.75680010T>C NA hg19 0.02 38.076367 CCAxGCT COVERED NOVEL 0 3 2.967638 KEEP 30 16 547 201 6340 TT 1 1 0 53 60 1868 1 0 143.255083 362 60 13393 1341 0.127711 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 75680143 75680143 __UNKNOWN__ IGR SNP G G T rs111613657 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:75680143G>T NA NA MIR1324 (134 upstream) : FRG2C (33337 downstream) NA NA NA GCCAGGGCTGGAACAAGGACC 0.542 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.75680143G>T NA hg19 0.02 8.719077 CTGxAAC COVERED NOVEL 0 0 3.544458 KEEP 84 1 23 20 670 GG 0.995343 0.995343 0 11 49 365 0 0 25.917086 106 50 3924 349 0.094017 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 75688353 75688353 __UNKNOWN__ IGR SNP G G A rs62247940 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:75688353G>A NA NA MIR1324 (8344 upstream) : FRG2C (25127 downstream) NA NA NA CACAGCCCCTGTTGCCCTGTG 0.567 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.75688353G>A NA hg19 0.02 -0.412354 CCTxTTG COVERED NOVEL 0 47 5.116444 KEEP 17 0 0 17 595 GG 0.992708 0.934874 0 2 60 73 0 0 6.595604 4 60 159 89 0.333333 0.941741 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 75691623 75691623 __UNKNOWN__ IGR SNP C C A rs200133773 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:75691623C>A NA NA MIR1324 (11614 upstream) : FRG2C (21857 downstream) NA NA NA aaaacacattcctgggtggag 0.388 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.75691623C>A NA hg19 0.02 4.140857 ATTxCTG COVERED NOVEL 0 1 10.232644 KEEP 2 0 0 34 1157 CC 0.999998 0.999996 0 9 60 307 0 0 26.330799 26 60 899 171 0.257143 0.999998 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 75691718 75691718 __UNKNOWN__ IGR SNP T T C rs151337419 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:75691718T>C NA NA MIR1324 (11709 upstream) : FRG2C (21762 downstream) NA NA NA agtcagaacatgcttactata 0.388 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.75691718T>C NA hg19 0.02 9.112496 ACAxGCT COVERED NOVEL 0 2 21.902798 KEEP 1 1 35 85 2705 TT 1 1 0 13 60 433 0 0 38.720988 26 60 973 385 0.333333 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 75691782 75691782 __UNKNOWN__ IGR SNP G G T rs146606413 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:75691782G>T NA NA MIR1324 (11773 upstream) : FRG2C (21698 downstream) NA NA NA cataaagagggtttctccagc 0.393 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.75691782G>T NA hg19 0.02 3.838887 AGGxTTT COVERED NOVEL 0 0 11.136023 KEEP 4 0 0 37 1284 GG 0.999999 0.99999 0 6 60 205 0 0 17.906404 15 60 562 153 0.285714 0.999991 FRG2C 100288801 __UNKNOWN__ __UNKNOWN__ 3 75715683 75715683 __UNKNOWN__ 3'UTR SNP G G T rs147008592 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:75715683G>T ENST00000464571.1 + 0 1387 FRG2C_ENST00000308062.3_3'UTR A6NGY1 FRG2C_HUMAN FSHD region gene 2 family, member C NA NA nucleus (GO:0005634) breast(2)|ovary(1) 3 ggcatgtaccgccatgcctgg 0.512 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS43108.1 3p12.3 2009-11-25 ENSG00000172969 ENSG00000172969 100288801 33626 protein-coding gene gene with protein product NA Standard NM_001124759.1 NM_001124759 NA Approved A6NGY1 OTTHUMG00000158963 ENST00000464571.1:c.*491G>T chr3.hg19:g.75715683G>T NA hg19 0.02 6.969809 ACCxCCA COVERED NOVEL FRG2C-002 NOVEL NAGNAG_splice_site|not_best_in_genome_evidence|basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000352695.1 12 3.242488 KEEP 0 1 29 21 692 GG 0.999879 0.999879 0 + 5 60 193 0 0 13.379909 82 60 2784 199 ENST00000464571.1 0.057471 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 75716448 75716448 __UNKNOWN__ IGR SNP G G A rs73840347 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:75716448G>A NA NA FRG2C (77 upstream) : LINC00960 (7115 downstream) NA NA NA TCTGGGAATAGTGTTCTATCA 0.378 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.75716448G>A NA hg19 0.02 4.590538 ATAxTGT COVERED NOVEL 0 1 3.31059 KEEP 0 0 0 11 381 GG 0.993072 0.993072 0 5 60 202 0 0 14.033277 92 60 3415 150 0.051546 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 75720957 75720957 __UNKNOWN__ IGR SNP A A G rs370746892 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:75720957A>G NA NA FRG2C (4586 upstream) : LINC00960 (2606 downstream) NA NA NA GGACAGAGGGATGgagagata 0.527 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.75720957A>G NA hg19 0.02 -0.385114 GGGxTGG COVERED NOVEL 0 5 2.407376 KEEP 1 0 0 8 253 AA 0.99257 0.911349 0 3 60 118 0 0 10.083031 11 60 343 71 0.214286 0.918171 ZNF717 100131827 __UNKNOWN__ __UNKNOWN__ 3 75762923 75762923 __UNKNOWN__ Intron SNP A A C rs117049050 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:75762923A>C ENST00000491507.1 - 6 667 Q9BY31 ZN717_HUMAN zinc finger protein 717 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7) 19 aagaaaagacagctgggccca 0.517 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF226994 3p12.3 2013-01-08 ENSG00000227124 ENSG00000227124 100131827 Zinc fingers, C2H2-type, - 29448 protein-coding gene gene with protein product zinc finger protein 838 ZNF838 NA Standard NM_001128223 NM_001128223 NA Approved X17 uc011bgi.2 Q9BY31 OTTHUMG00000158965 ENST00000491507.1:c.1675-2456T>G chr3.hg19:g.75762923A>C NA hg19 0.02 2.329487 GACxGCT COVERED NOVEL ZNF717-004 KNOWN basic processed_transcript NA protein_coding OTTHUMT00000352766.1 3 3.009548 KEEP 0 0 0 10 329 AA 0.992708 0.991184 0 - 4 60 152 0 0 13.330717 11 60 435 102 ENST00000491507.1 0.266667 0.998465 ZNF717 100131827 __UNKNOWN__ __UNKNOWN__ 3 75779070 75779070 __UNKNOWN__ Intron SNP T T C rs139424375 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:75779070T>C ENST00000491507.1 - 4 544 Q9BY31 ZN717_HUMAN zinc finger protein 717 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7) 19 tggatgtaaatagttgtgttg 0.333 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF226994 3p12.3 2013-01-08 ENSG00000227124 ENSG00000227124 100131827 Zinc fingers, C2H2-type, - 29448 protein-coding gene gene with protein product zinc finger protein 838 ZNF838 NA Standard NM_001128223 NM_001128223 NA Approved X17 uc011bgi.2 Q9BY31 OTTHUMG00000158965 ENST00000491507.1:c.1797+11356A>G chr3.hg19:g.75779070T>C NA hg19 0.02 2.425874 AAAxAGT COVERED NOVEL ZNF717-004 KNOWN basic processed_transcript NA protein_coding OTTHUMT00000352766.1 0 2.406868 KEEP 0 0 0 8 240 TT 0.99257 0.985548 0 - 5 60 193 0 0 15.386422 31 60 1102 76 ENST00000491507.1 0.138889 0.992926 ZNF717 100131827 __UNKNOWN__ __UNKNOWN__ 3 75779573 75779573 __UNKNOWN__ 3'UTR SNP A A G rs77499406 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:75779573A>G ENST00000477374.1 - 0 707 ZNF717_ENST00000491507.1_Intron Q9BY31 ZN717_HUMAN zinc finger protein 717 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7) 19 GGGGAGTTTTATTTCCAGGCT 0.348 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF226994 3p12.3 2013-01-08 ENSG00000227124 ENSG00000227124 100131827 Zinc fingers, C2H2-type, - 29448 protein-coding gene gene with protein product zinc finger protein 838 ZNF838 NA Standard NM_001128223 NM_001128223 NA Approved X17 uc011bgi.2 Q9BY31 OTTHUMG00000158965 ENST00000477374.1:c.*191T>C chr3.hg19:g.75779573A>G NA hg19 0.02 48.142722 TTTxTTT COVERED NOVEL ZNF717-005 PUTATIVE basic protein_coding NA protein_coding OTTHUMT00000352767.1 4 3.079673 KEEP 0 4 139 59 1740 AA 1 1 0 - 23 60 793 0 0 55.123293 277 60 9402 1076 ENST00000477374.1 0.076667 1 ZNF717 100131827 __UNKNOWN__ __UNKNOWN__ 3 75779860 75779860 __UNKNOWN__ Intron SNP G G A rs377262838 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:75779860G>A ENST00000477374.1 - 6 511 ZNF717_ENST00000491507.1_Intron Q9BY31 ZN717_HUMAN zinc finger protein 717 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7) 19 AGGATAACAAGGAACAAGTAC 0.313 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF226994 3p12.3 2013-01-08 ENSG00000227124 ENSG00000227124 100131827 Zinc fingers, C2H2-type, - 29448 protein-coding gene gene with protein product zinc finger protein 838 ZNF838 NA Standard NM_001128223 NM_001128223 NA Approved X17 uc011bgi.2 Q9BY31 OTTHUMG00000158965 ENST00000477374.1:c.340-91C>T chr3.hg19:g.75779860G>A NA hg19 0.02 23.266356 CAAxGAA COVERED NOVEL ZNF717-005 PUTATIVE basic protein_coding NA protein_coding OTTHUMT00000352767.1 2 3.310027 KEEP 0 0 0 11 356 GG 0.993072 0.993072 0 - 26 70 951 0 0 68.761241 283 70 9919 549 ENST00000477374.1 0.084142 1 ZNF717 100131827 __UNKNOWN__ __UNKNOWN__ 3 75784056 75784056 __UNKNOWN__ Intron SNP C C T rs112196493 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:75784056C>T ENST00000477374.1 - 5 449 ZNF717_ENST00000491507.1_Intron Q9BY31 ZN717_HUMAN zinc finger protein 717 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7) 19 tcactgcaacctccacctcct 0.438 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF226994 3p12.3 2013-01-08 ENSG00000227124 ENSG00000227124 100131827 Zinc fingers, C2H2-type, - 29448 protein-coding gene gene with protein product zinc finger protein 838 ZNF838 NA Standard NM_001128223 NM_001128223 NA Approved X17 uc011bgi.2 Q9BY31 OTTHUMG00000158965 ENST00000477374.1:c.278-2784G>A chr3.hg19:g.75784056C>T NA hg19 0.02 -0.070187 AACxTCC UNCOVERED NOVEL ZNF717-005 PUTATIVE basic protein_coding NA protein_coding OTTHUMT00000352767.1 3 2.408028 KEEP 1 0 0 8 302 CC 0 0 0 - 2 60 74 0 0 8.354065 0 0 0 22 ENST00000477374.1 1 0.054137 ZNF717 100131827 __UNKNOWN__ __UNKNOWN__ 3 75788432 75788432 __UNKNOWN__ Missense_Mutation SNP T T A rs143693332 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:75788432T>A ENST00000478296.1 - 4 468 c.192A>T c.(190-192)caA>caT p.Q64H ZNF717_ENST00000400845.3_Missense_Mutation_p.Q107H|ZNF717_ENST00000422325.1_Missense_Mutation_p.Q114H|ZNF717_ENST00000477374.1_Intron|ZNF717_ENST00000491507.1_Intron Q9BY31 ZN717_HUMAN zinc finger protein 717 107 KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}. NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) p.Q114H(1) autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7) 19 TGATTACAATTTGCCAGAAAA 0.333 NA NA NA NA NA NA NA NA NA NA NA 1 Substitution - Missense(1) stomach(1) 1 1 1 NA NA 3 NA 75788432 366 869 1235 SO:0001583 missense AF226994 3p12.3 2013-01-08 ENSG00000227124 ENSG00000227124 100131827 Zinc fingers, C2H2-type, - 29448 protein-coding gene gene with protein product zinc finger protein 838 ZNF838 NA Standard NM_001128223 NM_001128223 NA Approved X17 uc011bgi.2 Q9BY31 OTTHUMG00000158965 ENST00000478296.1:c.192A>T chr3.hg19:g.75788432T>A ENSP00000419377:p.Gln64His NA hg19 0.02 21.117695 AATxTGC COVERED . . . . . . . . . . . 10.54 1.378407 0.24944 . . ENSG00000227124 ENST00000478296;ENST00000422325;ENST00000400845 T;T;T 0.46819 0.86;0.86;0.86 2.13 0.901 0.19284 . . . . . T 0.43322 0.1242 N 0.21373 0.66 0.09310 N 1 D 0.54964 0.969 P 0.56042 0.79 T 0.25433 -1.0132 9 0.51188 T 0.08 . 6.8345 0.23929 0.0:0.0:0.2348:0.7651 rs11122680 114 C9JSV9 . H 64;114;107 ENSP00000419377:Q64H;ENSP00000409514:Q114H;ENSP00000383643:Q107H ENSP00000383643:Q107H Q - 3 2 ZNF717 75871122 0.001000 0.12720 0.006000 0.13384 0.005000 0.04900 0.097000 0.15168 0.264000 0.21851 -0.462000 0.05337 CAA NOVEL ZNF717-002 NOVEL not_organism_supported|basic protein_coding NA protein_coding OTTHUMT00000352764.2 6 3.979236 KEEP 0 5 168 72 2267 TT 1 1 0 - 68 60 2489 0 0 200.278777 356 70 12739 664 ENST00000478296.1 0.160377 1 ZNF717 100131827 __UNKNOWN__ __UNKNOWN__ 3 75799828 75799828 __UNKNOWN__ Intron SNP C C T rs370243118 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:75799828C>T ENST00000478296.1 - 2 184 ZNF717_ENST00000400845.3_Intron|ZNF717_ENST00000422325.1_Intron|ZNF717_ENST00000477374.1_Intron|ZNF717_ENST00000491507.1_Intron Q9BY31 ZN717_HUMAN zinc finger protein 717 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7) 19 aacactgttacgagggtctga 0.493 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF226994 3p12.3 2013-01-08 ENSG00000227124 ENSG00000227124 100131827 Zinc fingers, C2H2-type, - 29448 protein-coding gene gene with protein product zinc finger protein 838 ZNF838 NA Standard NM_001128223 NM_001128223 NA Approved X17 uc011bgi.2 Q9BY31 OTTHUMG00000158965 ENST00000478296.1:c.93-8941G>A chr3.hg19:g.75799828C>T NA hg19 0.02 -0.19298 TTAxGAG COVERED NOVEL ZNF717-002 NOVEL not_organism_supported|basic protein_coding NA protein_coding OTTHUMT00000352764.2 9 2.407907 KEEP 0 0 0 8 286 CC 0.99257 0.518282 0 - 2 60 77 0 0 7.19293 3 60 107 46 ENST00000478296.1 0.4 0.522161 ROBO2 6092 __UNKNOWN__ __UNKNOWN__ 3 77089395 77089395 __UNKNOWN__ 5'UTR SNP T T C rs3923745 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:77089395T>C ENST00000461745.1 + 0 359 ROBO2_ENST00000487694.3_Intron NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) NA NA apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657) axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802) NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) TTTGACACATTCTTATTATGG 0.483 NA C||| 2438 0.486821 0.7625 0.4424 5008 , , NA 12246 0.3998 NA 0.341 False NA ,,, NA NA NA 2504 0.3855 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF040991 CCDS43109.1, CCDS54609.1 3p12.3 2013-02-11 2001-11-28 ENSG00000185008 ENSG00000185008 6092 Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing 10250 protein-coding gene gene with protein product 602431 roundabout (axon guidance receptor, Drosophila) homolog 2 NA 9458045 Standard XM_031246 NM_002942 NA Approved KIAA1568 uc003dpy.4 Q9HCK4 OTTHUMG00000158935 ENST00000461745.1:c.-542T>C chr3.hg19:g.77089395T>C NA O43608|Q19AB4|Q19AB5 hg19 CCDS43109.1 0.02 1.815951 CATxCTT COVERED NOVEL ROBO2-002 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000352600.2 2 11.433238 KEEP 0 0 0 38 1186 TT 1 0.999768 0 + 5 60 184 0 0 12.451815 83 60 2976 146 ENST00000461745.1 0.056818 0.999768 ROBO2 6092 __UNKNOWN__ __UNKNOWN__ 3 77089699 77089699 __UNKNOWN__ 5'UTR SNP T T G rs3923744 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:77089699T>G ENST00000461745.1 + 0 663 ROBO2_ENST00000487694.3_Intron NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) NA NA apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657) axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802) NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) GAAGCCAGAGTGCTGGAAATA 0.502 NA T||| 923 0.184305 0.1014 0.2911 5008 , , NA 14937 0.2192 NA 0.1799 False NA ,,, NA NA NA 2504 0.1892 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF040991 CCDS43109.1, CCDS54609.1 3p12.3 2013-02-11 2001-11-28 ENSG00000185008 ENSG00000185008 6092 Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing 10250 protein-coding gene gene with protein product 602431 roundabout (axon guidance receptor, Drosophila) homolog 2 NA 9458045 Standard XM_031246 NM_002942 NA Approved KIAA1568 uc003dpy.4 Q9HCK4 OTTHUMG00000158935 ENST00000461745.1:c.-238T>G chr3.hg19:g.77089699T>G NA O43608|Q19AB4|Q19AB5 hg19 CCDS43109.1 0.02 7.197643 GAGxGCT COVERED NOVEL ROBO2-002 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000352600.2 0 11.131261 KEEP 0 0 0 37 1128 TT 1 1 0 + 9 60 321 0 0 21.206639 158 60 5527 252 ENST00000461745.1 0.053892 1 ROBO2 6092 __UNKNOWN__ __UNKNOWN__ 3 77147112 77147112 __UNKNOWN__ Intron SNP G G A rs9874095 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:77147112G>A ENST00000332191.8 + 2 117 ROBO2_ENST00000487694.3_Intron|ROBO2_ENST00000461745.1_Intron Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) NA NA apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657) axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802) NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) GTGAAACCGAGGGTTTAGATA 0.418 NA G||| 1606 0.320687 0.1581 0.2709 5008 , , NA 21730 0.5685 NA 0.2316 False NA ,,, NA NA NA 2504 0.4121 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF040991 CCDS43109.1, CCDS54609.1 3p12.3 2013-02-11 2001-11-28 ENSG00000185008 ENSG00000185008 6092 Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing 10250 protein-coding gene gene with protein product 602431 roundabout (axon guidance receptor, Drosophila) homolog 2 NA 9458045 Standard XM_031246 NM_002942 NA Approved KIAA1568 uc003dpy.4 Q9HCK4 OTTHUMG00000158935 ENST00000332191.8:c.62-53G>A chr3.hg19:g.77147112G>A NA O43608|Q19AB4|Q19AB5 hg19 0.02 3.973197 CGAxGGT COVERED NOVEL ROBO2-003 NOVEL basic|appris_candidate_longest|exp_conf protein_coding NA protein_coding OTTHUMT00000352601.1 1 7.51457 KEEP 0 0 0 25 852 GG 0.999931 0.999908 0 + 8 60 275 0 0 19.107512 95 60 3638 150 ENST00000332191.8 0.07767 0.999978 GBE1 2632 __UNKNOWN__ __UNKNOWN__ 3 81792730 81792730 __UNKNOWN__ Intron SNP G G A rs3772888 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:81792730G>A ENST00000429644.2 - 1 787 GBE1_ENST00000489715.1_5'UTR NM_000158.3 NP_000149 Q04446 GLGB_HUMAN glucan (1,4-alpha-), branching enzyme 1 NA NA carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) 1,4-alpha-glucan branching enzyme activity (GO:0003844)|cation binding (GO:0043169)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553) breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Lung NSC(201;0.0117) UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247) AGATTCATGGGACAACGAAGT 0.428 NA Glycogen Storage Disease, type IV G||| 590 0.117812 0.0673 0.1182 5008 , , NA 18590 0.3512 NA 0.0318 False NA ,,, NA NA NA 2504 0.0337 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database Andersen Disease, Brancher deficiency CCDS54612.1 3p12.2 2013-09-20 2008-08-01 ENSG00000114480 ENSG00000114480 2632 2.4.1.18 4180 protein-coding gene gene with protein product glycogen branching enzyme, Andersen disease, glycogen storage disease type IV 607839 NA 8463281 Standard NM_000158 NA Approved uc021xav.1 Q04446 OTTHUMG00000158978 ENST00000429644.2:c.143+17795C>T chr3.hg19:g.81792730G>A NA B3KWV3|Q96EN0 hg19 CCDS54612.1 0.02 24.000647 TGGxACA COVERED NOVEL GBE1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000352760.2 9 100.526573 KEEP 0 0 0 334 11715 GG 1 1 0 - 15 60 546 0 0 30.953348 619 60 22827 1256 ENST00000429644.2 0.023659 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 87100447 87100447 __UNKNOWN__ IGR SNP G G A rs9831869 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:87100447G>A NA NA VGLL3 (60178 upstream) : MIR4795 (174891 downstream) NA NA NA TCATAATATCGTGCTTTTTCT 0.358 NA G||| 1353 0.270168 0.4032 0.1657 5008 , , NA 20276 0.3224 NA 0.1531 False NA ,,, NA NA NA 2504 0.2311 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.87100447G>A NA hg19 0.02 14.756502 ATCxTGC COVERED NOVEL 0 3 8.727679 KEEP 53 0 0 29 972 GG 0.995343 0.995343 0 12 60 447 1 0 27.259247 371 60 13455 462 0.031332 1 CHMP2B 25978 __UNKNOWN__ __UNKNOWN__ 3 87276699 87276699 __UNKNOWN__ Silent SNP C C T rs2279720 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:87276699C>T ENST00000494980.1 + 1 248 c.27C>T c.(25-27)acC>acT p.T9T CHMP2B_ENST00000471660.1_5'UTR|CHMP2B_ENST00000263780.4_Silent_p.T9T|CHMP2B_ENST00000472024.1_3'UTR Q9UQN3 CHM2B_HUMAN charged multivesicular body protein 2B 9 NA cell death (GO:0008219)|endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032) cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634) protein domain specific binding (GO:0019904) NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)|skin(2) 12 all_cancers(8;0.104)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712) AGAAGAAAACCGTGGATGGTG 0.642 NA C||| 537 0.107228 0.1112 0.0692 5008 , , NA 15188 0.1875 NA 0.0696 False NA ,,, NA NA NA 2504 0.0849 NA NA NA NA 0 C 458,3948 215.5+/-234.4 21,416,1766 61 71 67 http://www.ncbi.nlm.nih.gov/sites/varvu?gene 27 1 1 3 dbSNP_100 67 758,7842 180.6+/-229.5 39,680,3581 no coding-synonymous CHMP2B NM_014043.3 60,1096,5347 TT,TC,CC 8.814,10.3949,9.3495 9/214 87276699 1216,11790 2203 4300 6503 SO:0001819 synonymous_variant BC001553 CCDS2918.1, CCDS58840.1 3p12.1 2011-09-21 2011-09-21 ENSG00000083937 ENSG00000083937 25978 Charged multivesicular body proteins 24537 protein-coding gene gene with protein product VPS2 homolog B (S. cerevisiae) 609512 chromatin modifying protein 2B NA 11559748 Standard NM_014043 NM_014043 NA Approved DKFZP564O123, CHMP2.5, VPS2B uc003dqp.4 Q9UQN3 OTTHUMG00000158982 ENST00000494980.1:c.27C>T chr3.hg19:g.87276699C>T NA B4DJG8|Q53HC7|Q9Y4U6 hg19 0.02 18.913677 AACxGTG COVERED NOVEL CHMP2B-004 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000352811.1 2 82.425216 KEEP 0 0 0 274 9266 CC 1 1 0 + 27 60 1017 0 0 71.39753 382 60 13445 888 ENST00000494980.1 0.066015 1 CHMP2B 25978 __UNKNOWN__ __UNKNOWN__ 3 87299075 87299075 __UNKNOWN__ Silent SNP A A C rs1044499 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:87299075A>C ENST00000471660.1 + 3 532 c.249A>C c.(247-249)acA>acC p.T83T CHMP2B_ENST00000494980.1_Silent_p.T94T|CHMP2B_ENST00000263780.4_Silent_p.T124T|CHMP2B_ENST00000472024.1_3'UTR NM_001244644.1 NP_001231573.1 Q9UQN3 CHM2B_HUMAN charged multivesicular body protein 2B 124 NA cell death (GO:0008219)|endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032) cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634) protein domain specific binding (GO:0019904) NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)|skin(2) 12 all_cancers(8;0.104)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712) CATTACAAACAATGCAGAATT 0.269 NA A||| 530 0.105831 0.1059 0.0692 5008 , , NA 16716 0.1875 NA 0.0696 False NA ,,, NA NA NA 2504 0.0849 NA NA NA NA 0 A 446,3960 206.5+/-228.1 18,410,1775 71 71 71 http://www.ncbi.nlm.nih.gov/sites/varvu?gene 372 3.2 1 3 dbSNP_86 71 752,7832 178.0+/-227.5 37,678,3577 no coding-synonymous CHMP2B NM_014043.3 55,1088,5352 CC,CA,AA 8.7605,10.1226,9.2225 124/214 87299075 1198,11792 2203 4292 6495 SO:0001819 synonymous_variant BC001553 CCDS2918.1, CCDS58840.1 3p12.1 2011-09-21 2011-09-21 ENSG00000083937 ENSG00000083937 25978 Charged multivesicular body proteins 24537 protein-coding gene gene with protein product VPS2 homolog B (S. cerevisiae) 609512 chromatin modifying protein 2B NA 11559748 Standard NM_014043 NM_014043 NA Approved DKFZP564O123, CHMP2.5, VPS2B uc003dqp.4 Q9UQN3 OTTHUMG00000158982 ENST00000471660.1:c.249A>C chr3.hg19:g.87299075A>C NA B4DJG8|Q53HC7|Q9Y4U6 hg19 CCDS58840.1 0.02 4.463153 AACxATG COVERED NOVEL CHMP2B-002 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000352809.1 0 5.716894 KEEP 0 0 0 19 590 AA 0.99986 0.999841 0 + 6 60 225 0 0 15.402712 98 60 3601 161 ENST00000471660.1 0.057692 0.999981 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 94224921 94224921 __UNKNOWN__ IGR SNP C C T rs9875349 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:94224921C>T NA NA NSUN3 (377532 upstream) : LINC00879 (432185 downstream) NA NA NA gtgatctgcccacctcagcct 0.478 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.94224921C>T NA hg19 0.02 4.876582 GCCxACC COVERED NOVEL 0 0 2.708587 KEEP 22 0 0 9 300 CC 0.99257 0.99257 0 6 27 190 0 0 11.521281 115 60 4079 180 0.049587 1 GABRR3 200959 __UNKNOWN__ __UNKNOWN__ 3 97706891 97706891 __UNKNOWN__ RNA SNP C C T rs832101 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:97706891C>T ENST00000472788.1 - 0 1106 NM_001105580.2 NP_001099050.1 A8MPY1 GBRR3_HUMAN gamma-aminobutyric acid (GABA) A receptor, rho 3 (gene/pseudogene) NA NA gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085) cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211) chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890) large_intestine(2)|lung(1) 3 Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897) GCATACGATTCATCCATGGCT 0.483 NA C||| 747 0.149161 0.0106 0.1239 5008 , , NA 15044 0.1895 NA 0.2028 False NA ,,, NA NA NA 2504 0.2577 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA Y18994 CCDS54617.1 3q11.2 2014-03-25 2014-03-25 ENSG00000183185 ENSG00000183185 200959 GABA receptors, Ligand-gated ion channels / GABA(A) receptors 17969 protein-coding gene gene with protein product GABA(A) receptor, rho 3 gamma-aminobutyric acid (GABA) receptor, rho 3, gamma-aminobutyric acid (GABA) A receptor, rho 3 NA 10542332 Standard NM_001105580 NA Approved uc021xbp.1 A8MPY1 OTTHUMG00000159135 ENST00000472788.1: chr3.hg19:g.97706891C>T NA Q9UIV9 hg19 0.02 4.510567 ATTxATC COVERED NOVEL GABRR3-002 KNOWN not_organism_supported|basic polymorphic_pseudogene NA polymorphic_pseudogene OTTHUMT00000353445.2 3 9.630835 KEEP 0 0 0 32 1117 CC 0.999997 0.99999 0 - 6 60 218 0 0 14.555339 104 60 3945 175 ENST00000472788.1 0.054545 0.999993 OR5H15 403274 __UNKNOWN__ __UNKNOWN__ 3 97888405 97888405 __UNKNOWN__ Missense_Mutation SNP A A G rs149573994 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:97888405A>G ENST00000356526.2 + 1 862 c.862A>G c.(862-864)Atc>Gtc p.I288V NM_001005515.1 NP_001005515.1 A6NDH6 O5H15_HUMAN olfactory receptor, family 5, subfamily H, member 15 288 NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1) 35 GTTAAATCCTATCATCTACAG 0.343 NA A||| 20 0.00399361 0.0 0.0 5008 , , NA 16831 0.0198 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 A VAL/ILE 5,4401 11.4+/-27.6 0,5,2198 63 68 66 862 -2.5 0 3 dbSNP_134 66 0,8598 0,0,4299 no missense OR5H15 NM_001005515.1 29 0,5,6497 GG,GA,AA 0.0,0.1135,0.0384 benign 288/314 97888405 5,12999 2203 4299 6502 SO:0001583 missense CCDS33799.1 3q11.2 2013-09-23 ENSG00000233412 ENSG00000233412 403274 GPCR / Class A : Olfactory receptors 31287 protein-coding gene gene with protein product NA Standard NM_001005515 NA Approved uc011bgu.2 A6NDH6 OTTHUMG00000160076 ENST00000356526.2:c.862A>G chr3.hg19:g.97888405A>G ENSP00000373195:p.Ile288Val NA hg19 CCDS33799.1 0.02 10.770903 CCTxTCA COVERED 13 0.005952380952380952 0 0.0 0 0.0 13 0.022727272727272728 0 0.0 a 5.612 0.297707 0.10622 0.001135 0.0 ENSG00000233412 ENST00000356526;ENST00000454529 T 0.40756 1.02 2.48 -2.51 0.06365 GPCR, rhodopsin-like superfamily (1); 0.477385 0.17690 N 0.165310 T 0.12433 0.0302 L 0.35414 1.06 0.09310 N 1 B 0.18013 0.025 B 0.20767 0.031 T 0.09378 -1.0677 10 0.51188 T 0.08 . 3.1002 0.06323 0.315:0.0:0.1443:0.5407 . 288 A6NDH6 O5H15_HUMAN V 288 ENSP00000373195:I288V ENSP00000373195:I288V I + 1 0 OR5H15 99371095 0.000000 0.05858 0.014000 0.15608 0.004000 0.04260 -3.306000 0.00518 -0.177000 0.10690 0.155000 0.16302 ATC NOVEL OR5H15-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000359109.1 2 6.920854 KEEP 0 0 0 23 723 AA 0.999892 0.999892 0 + 9 60 341 0 0 21.263434 261 60 9463 351 ENST00000356526.2 0.033333 1 OR5H2 79310 __UNKNOWN__ __UNKNOWN__ 3 98002419 98002419 __UNKNOWN__ Missense_Mutation SNP A A G rs16839214 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:98002419A>G ENST00000355273.2 + 1 688 c.688A>G c.(688-690)Atc>Gtc p.I230V RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005482.1 NP_001005482.1 Q8NGV7 OR5H2_HUMAN olfactory receptor, family 5, subfamily H, member 2 230 NA I -> V (in dbSNP:rs16839214). integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 24 TCTTTTCACAATCCTAAAAAA 0.363 NA A||| 819 0.163538 0.1641 0.1715 5008 , , NA 18698 0.2609 NA 0.1004 False NA ,,, NA NA NA 2504 0.1217 NA NA NA NA 0 A VAL/ILE 664,3742 279.6+/-274.9 50,564,1589 86 88 87 688 -6.1 0 3 dbSNP_123 87 1037,7563 219.2+/-257.4 67,903,3330 yes missense OR5H2 NM_001005482.1 29 117,1467,4919 GG,GA,AA 12.0581,15.0704,13.0786 benign 230/315 98002419 1701,11305 2203 4300 6503 SO:0001583 missense CCDS33801.1 3q11.2 2013-09-23 ENSG00000197938 ENSG00000197938 79310 GPCR / Class A : Olfactory receptors 14752 protein-coding gene gene with protein product NA Standard NM_001005482 NA Approved uc003dsj.1 Q8NGV7 OTTHUMG00000160080 ENST00000355273.2:c.688A>G chr3.hg19:g.98002419A>G ENSP00000347418:p.Ile230Val NA Q6IF87 hg19 CCDS33801.1 0.02 6.994355 ACAxTCC COVERED 346 0.15842490842490842 75 0.1524390243902439 71 0.19613259668508287 126 0.2202797202797203 74 0.09762532981530343 A 6.885 0.532668 0.13127 0.150704 0.120581 ENSG00000197938 ENST00000355273 T 0.00024 8.98 3.03 -6.07 0.02158 GPCR, rhodopsin-like superfamily (1); 0.377483 0.18850 N 0.129422 T 0.00012 0.0000 L 0.33245 0.995 0.80722 P 0.0 B 0.23249 0.082 B 0.30495 0.116 T 0.41574 -0.9501 9 0.54805 T 0.06 . 6.5644 0.22503 0.5252:0.1257:0.3491:0.0 rs16839214;rs52834668;rs59137991;rs16839214 230 Q8NGV7 OR5H2_HUMAN V 230 ENSP00000347418:I230V ENSP00000347418:I230V I + 1 0 OR5H2 99485109 0.000000 0.05858 0.000000 0.03702 0.002000 0.02628 -1.601000 0.02081 -2.134000 0.00812 -1.509000 0.00949 ATC NOVEL OR5H2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000359113.2 1 2.407451 KEEP 0 0 0 8 259 AA 0.99257 0.99257 0 + 9 60 339 0 0 23.254945 147 60 5253 177 ENST00000355273.2 0.057692 1 OR5H2 79310 __UNKNOWN__ __UNKNOWN__ 3 98002587 98002587 __UNKNOWN__ Missense_Mutation SNP A A G rs16839611 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:98002587A>G ENST00000355273.2 + 1 856 c.856A>G c.(856-858)Ata>Gta p.I286V RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005482.1 NP_001005482.1 Q8NGV7 OR5H2_HUMAN olfactory receptor, family 5, subfamily H, member 2 286 NA I -> V (in dbSNP:rs16839611). integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 24 TTATACAATCATAATTCCTTT 0.328 NA A||| 2547 0.508586 0.6626 0.4524 5008 , , NA 17384 0.75 NA 0.2296 False NA ,,, NA NA NA 2504 0.3783 NA NA NA NA 0 A VAL/ILE 2689,1717 644.4+/-398.0 815,1059,329 53 51 51 856 -1.4 0 3 dbSNP_123 51 2102,6498 358.0+/-331.0 273,1556,2471 yes missense OR5H2 NM_001005482.1 29 1088,2615,2800 GG,GA,AA 24.4419,38.9696,36.8368 possibly-damaging 286/315 98002587 4791,8215 2203 4300 6503 SO:0001583 missense CCDS33801.1 3q11.2 2013-09-23 ENSG00000197938 ENSG00000197938 79310 GPCR / Class A : Olfactory receptors 14752 protein-coding gene gene with protein product NA Standard NM_001005482 NA Approved uc003dsj.1 Q8NGV7 OTTHUMG00000160080 ENST00000355273.2:c.856A>G chr3.hg19:g.98002587A>G ENSP00000347418:p.Ile286Val NA Q6IF87 hg19 CCDS33801.1 0.02 13.055045 ATCxTAA COVERED 1099 0.5032051282051282 316 0.6422764227642277 152 0.4198895027624309 451 0.7884615384615384 180 0.23746701846965698 A 0 -2.745156 0.00087 0.610304 0.244419 ENSG00000197938 ENST00000355273 T 0.00018 9.07 3.03 -1.37 0.09056 GPCR, rhodopsin-like superfamily (1); 0.337021 0.21263 N 0.077457 T 0.00012 0.0000 N 0.02403 -0.565 0.80722 P 0.0 P 0.46706 0.883 P 0.50570 0.644 T 0.48502 -0.9030 9 0.02654 T 1 . 4.6526 0.12603 0.4826:0.3037:0.2137:0.0 rs16839611;rs52809881;rs61556920;rs16839611 286 Q8NGV7 OR5H2_HUMAN V 286 ENSP00000347418:I286V ENSP00000347418:I286V I + 1 0 OR5H2 99485277 0.002000 0.14202 0.001000 0.08648 0.001000 0.01503 -0.054000 0.11826 -0.778000 0.04566 -1.509000 0.00949 ATA NOVEL OR5H2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000359113.2 4 8.724217 KEEP 0 0 0 29 884 AA 0.999997 0.999997 0 + 22 60 778 0 0 53.635056 294 60 10955 405 ENST00000355273.2 0.06962 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 98281349 98281349 __UNKNOWN__ IGR SNP G G T rs9850648 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:98281349G>T NA NA GPR15 (29389 upstream) : CPOX (16936 downstream) NA NA NA TCTAATAGCTGGTATCAAAAT 0.343 NA T||| 2355 0.470248 0.3964 0.5202 5008 , , NA 18616 0.4573 NA 0.495 False NA ,,, NA NA NA 2504 0.5225 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.98281349G>T NA hg19 0.02 11.079208 GCTxGTA COVERED NOVEL 0 1 11.135442 KEEP 0 0 0 37 1273 GG 1 1 0 10 60 371 0 0 23.321561 259 60 9597 376 0.037175 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 98376830 98376830 __UNKNOWN__ IGR SNP T T C rs6440022 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:98376830T>C NA NA AC021660.1 (33942 upstream) : ST3GAL6-AS1 (56343 downstream) NA NA NA TCTTCTAATCTAAAATGGGAT 0.358 NA C||| 2032 0.405751 0.8737 0.2839 5008 , , NA 21286 0.2609 NA 0.1978 False NA ,,, NA NA NA 2504 0.2229 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.98376830T>C NA hg19 0.02 2.209927 ATCxAAA COVERED NOVEL 0 0 4.814944 KEEP 0 0 0 16 513 TT 0.997832 0.997794 0 5 60 200 0 0 13.765602 95 60 3548 136 0.05 0.999962 ST3GAL6 10402 __UNKNOWN__ __UNKNOWN__ 3 98489915 98489915 __UNKNOWN__ Intron SNP C C G rs372885558|rs1440152 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:98489915C>G ENST00000483910.1 + 3 456 ST3GAL6_ENST00000265261.6_Intron|ST3GAL6_ENST00000394162.1_Intron|ST3GAL6_ENST00000462152.1_Intron|ST3GAL6_ENST00000468553.1_Intron NM_001271146.1 NP_001258075.1 Q9Y274 SIA10_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 6 NA NA carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|cellular response to interleukin-6 (GO:0071354)|glycolipid metabolic process (GO:0006664)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281) extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021) beta-galactoside alpha-2,3-sialyltransferase activity (GO:0052798) breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1) 19 AAGTGGACACCCCATATTTAA 0.328 NA C||| 1692 0.337859 0.4024 0.3343 5008 , , NA 17595 0.2073 NA 0.4026 False NA ,,, NA NA NA 2504 0.3211 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF119391 CCDS2933.1, CCDS59452.1, CCDS74968.1 3q12.2 2013-03-01 2005-02-07 2005-02-07 ENSG00000064225 ENSG00000064225 10402 Sialyltransferases 18080 protein-coding gene gene with protein product 607156 sialyltransferase 10 (alpha-2,3-sialyltransferase VI) SIAT10 NA 10206952 Standard NM_006100 NM_006100 NA Approved ST3GALVI uc010hpd.4 Q9Y274 OTTHUMG00000159047 ENST00000483910.1:c.167+115C>G chr3.hg19:g.98489915C>G NA B2RCH2|B3KMI1|D3DN39|F8W6U0 hg19 CCDS2933.1 0.02 6.678548 CACxCCA COVERED NOVEL ST3GAL6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000353013.2 2 5.371325 KEEP 0 0 0 18 597 CC 0.999859 0.999859 0 + 6 60 220 0 0 13.280534 186 60 6573 221 ENST00000483910.1 0.03125 1 ST3GAL6 10402 __UNKNOWN__ __UNKNOWN__ 3 98491619 98491619 __UNKNOWN__ Intron SNP G G T rs2334230 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:98491619G>T ENST00000483910.1 + 4 456 ST3GAL6_ENST00000265261.6_Intron|ST3GAL6_ENST00000394162.1_Intron|ST3GAL6_ENST00000462152.1_Intron|ST3GAL6_ENST00000468553.1_Intron NM_001271146.1 NP_001258075.1 Q9Y274 SIA10_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 6 NA NA carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|cellular response to interleukin-6 (GO:0071354)|glycolipid metabolic process (GO:0006664)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281) extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021) beta-galactoside alpha-2,3-sialyltransferase activity (GO:0052798) breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1) 19 AAATATAGTAGGTATTTGGCA 0.303 NA G||| 1665 0.332468 0.3812 0.3415 5008 , , NA 15990 0.1974 NA 0.4046 False NA ,,, NA NA NA 2504 0.3252 NA NA NA NA 0 G 1775,2631 525.2+/-371.5 357,1061,785 124 111 116 -6.9 0 3 dbSNP_100 116 3739,4861 531.7+/-382.0 775,2189,1336 no intron ST3GAL6 NM_006100.2 1132,3250,2121 TT,TG,GG 43.4767,40.286,42.3958 98491619 5514,7492 2203 4300 6503 SO:0001627 intron_variant AF119391 CCDS2933.1, CCDS59452.1, CCDS74968.1 3q12.2 2013-03-01 2005-02-07 2005-02-07 ENSG00000064225 ENSG00000064225 10402 Sialyltransferases 18080 protein-coding gene gene with protein product 607156 sialyltransferase 10 (alpha-2,3-sialyltransferase VI) SIAT10 NA 10206952 Standard NM_006100 NM_006100 NA Approved ST3GALVI uc010hpd.4 Q9Y274 OTTHUMG00000159047 ENST00000483910.1:c.168-38G>T chr3.hg19:g.98491619G>T NA B2RCH2|B3KMI1|D3DN39|F8W6U0 hg19 CCDS2933.1 0.02 23.572986 GTAxGTA COVERED NOVEL ST3GAL6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000353013.2 4 13.242609 KEEP 0 0 0 44 1568 GG 1 1 0 + 16 60 590 0 0 35.12504 542 60 20646 656 ENST00000483910.1 0.028674 1 ST3GAL6 10402 __UNKNOWN__ __UNKNOWN__ 3 98503776 98503776 __UNKNOWN__ Intron SNP A A G rs999147 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:98503776A>G ENST00000483910.1 + 6 624 ST3GAL6_ENST00000265261.6_Intron|ST3GAL6_ENST00000394162.1_Intron|ST3GAL6_ENST00000462152.1_Intron NM_001271146.1 NP_001258075.1 Q9Y274 SIA10_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 6 NA NA carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|cellular response to interleukin-6 (GO:0071354)|glycolipid metabolic process (GO:0006664)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281) extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021) beta-galactoside alpha-2,3-sialyltransferase activity (GO:0052798) breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1) 19 TCACTTGTCCATCTGTCCAAC 0.408 NA A||| 1548 0.309105 0.3374 0.3199 5008 , , NA 19730 0.2202 NA 0.3429 False NA ,,, NA NA NA 2504 0.32 NA NA NA NA 0 A 1534,2872 486.2+/-360.5 281,972,950 87 92 90 -10.2 0 3 dbSNP_86 90 3189,5411 483.0+/-371.0 571,2047,1682 no intron ST3GAL6 NM_006100.2 852,3019,2632 GG,GA,AA 37.0814,34.8162,36.314 98503776 4723,8283 2203 4300 6503 SO:0001627 intron_variant AF119391 CCDS2933.1, CCDS59452.1, CCDS74968.1 3q12.2 2013-03-01 2005-02-07 2005-02-07 ENSG00000064225 ENSG00000064225 10402 Sialyltransferases 18080 protein-coding gene gene with protein product 607156 sialyltransferase 10 (alpha-2,3-sialyltransferase VI) SIAT10 NA 10206952 Standard NM_006100 NM_006100 NA Approved ST3GALVI uc010hpd.4 Q9Y274 OTTHUMG00000159047 ENST00000483910.1:c.336-13A>G chr3.hg19:g.98503776A>G NA B2RCH2|B3KMI1|D3DN39|F8W6U0 hg19 CCDS2933.1 0.02 15.140413 TCCxTCT COVERED NOVEL ST3GAL6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000353013.2 2 24.074477 KEEP 0 0 0 80 2566 AA 1 1 0 + 11 60 396 0 0 23.470856 351 60 13182 572 ENST00000483910.1 0.030387 1 ST3GAL6 10402 __UNKNOWN__ __UNKNOWN__ 3 98512825 98512825 __UNKNOWN__ 3'UTR SNP T T A rs14310 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:98512825T>A ENST00000483910.1 + 0 1505 ST3GAL6_ENST00000265261.6_3'UTR|ST3GAL6_ENST00000394162.1_3'UTR NM_001271146.1 NP_001258075.1 Q9Y274 SIA10_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 6 NA NA carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|cellular response to interleukin-6 (GO:0071354)|glycolipid metabolic process (GO:0006664)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281) extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021) beta-galactoside alpha-2,3-sialyltransferase activity (GO:0052798) breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1) 19 TTTGATTGCATTGTTTTTAAA 0.294 NA T||| 1551 0.309704 0.3359 0.3199 5008 , , NA 19887 0.2252 NA 0.3429 False NA ,,, NA NA NA 2504 0.32 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF119391 CCDS2933.1, CCDS59452.1, CCDS74968.1 3q12.2 2013-03-01 2005-02-07 2005-02-07 ENSG00000064225 ENSG00000064225 10402 Sialyltransferases 18080 protein-coding gene gene with protein product 607156 sialyltransferase 10 (alpha-2,3-sialyltransferase VI) SIAT10 NA 10206952 Standard NM_006100 NM_006100 NA Approved ST3GALVI uc010hpd.4 Q9Y274 OTTHUMG00000159047 ENST00000483910.1:c.*220T>A chr3.hg19:g.98512825T>A NA B2RCH2|B3KMI1|D3DN39|F8W6U0 hg19 CCDS2933.1 0.02 8.952668 GCAxTGT COVERED NOVEL ST3GAL6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000353013.2 2 9.630028 KEEP 0 0 0 32 1053 TT 0.999997 0.999997 0 + 12 60 445 0 0 30.383979 193 60 7006 276 ENST00000483910.1 0.058537 1 DCBLD2 131566 __UNKNOWN__ __UNKNOWN__ 3 98517013 98517013 __UNKNOWN__ 3'UTR SNP T T C rs1062196 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:98517013T>C ENST00000326840.6 - 0 3893 DCBLD2_ENST00000326857.9_3'UTR NM_080927.3 NP_563615.3 Q96PD2 DCBD2_HUMAN discoidin, CUB and LCCL domain containing 2 NA NA cell adhesion (GO:0007155)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cell growth (GO:0030308)|wound healing (GO:0042060) cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887) breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2) 25 AGGTGACATATAGGACTACTC 0.388 NA C||| 1823 0.364018 0.4561 0.366 5008 , , NA 4389 0.2262 NA 0.4135 False NA ,,, NA NA NA 2504 0.3292 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS46878.1 3q12.2 2006-04-12 ENSG00000057019 ENSG00000057019 131566 24627 protein-coding gene gene with protein product 608698 NA 11447234 Standard NM_080927 NM_080927 NA Approved CLCP1, ESDN uc003dtd.3 Q96PD2 OTTHUMG00000151985 ENST00000326840.6:c.*1203A>G chr3.hg19:g.98517013T>C NA B7WNL1|D3DN41|Q8N6M4|Q8TDX2 hg19 CCDS46878.1 0.02 8.835339 ATAxAGG COVERED NOVEL DCBLD2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000324675.2 0 6.016678 KEEP 0 0 0 20 613 TT 0.999863 0.999863 0 - 7 60 257 0 0 15.765303 200 60 7288 256 ENST00000326840.6 0.033816 1 DCBLD2 131566 __UNKNOWN__ __UNKNOWN__ 3 98518072 98518072 __UNKNOWN__ 3'UTR SNP A A G rs17270986 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:98518072A>G ENST00000326840.6 - 0 2834 DCBLD2_ENST00000326857.9_3'UTR NM_080927.3 NP_563615.3 Q96PD2 DCBD2_HUMAN discoidin, CUB and LCCL domain containing 2 NA NA cell adhesion (GO:0007155)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cell growth (GO:0030308)|wound healing (GO:0042060) cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887) breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2) 25 CAAGATTAGTAGTTTCCTGTA 0.353 NA A||| 639 0.127596 0.0083 0.196 5008 , , NA 17319 0.1875 NA 0.1223 False NA ,,, NA NA NA 2504 0.184 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS46878.1 3q12.2 2006-04-12 ENSG00000057019 ENSG00000057019 131566 24627 protein-coding gene gene with protein product 608698 NA 11447234 Standard NM_080927 NM_080927 NA Approved CLCP1, ESDN uc003dtd.3 Q96PD2 OTTHUMG00000151985 ENST00000326840.6:c.*144T>C chr3.hg19:g.98518072A>G NA B7WNL1|D3DN41|Q8N6M4|Q8TDX2 hg19 CCDS46878.1 0.02 2.145123 AGTxGTT COVERED NOVEL DCBLD2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000324675.2 0 3.609115 KEEP 0 0 0 12 365 AA 0.993634 0.993564 0 - 4 60 159 0 0 10.588663 92 70 3370 122 ENST00000326840.6 0.041667 0.99993 DCBLD2 131566 __UNKNOWN__ __UNKNOWN__ 3 98518377 98518377 __UNKNOWN__ Missense_Mutation SNP C C T rs16840208 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:98518377C>T ENST00000326840.6 - 16 2529 c.2167G>A c.(2167-2169)Gac>Aac p.D723N DCBLD2_ENST00000326857.9_Missense_Mutation_p.D737N NM_080927.3 NP_563615.3 Q96PD2 DCBD2_HUMAN discoidin, CUB and LCCL domain containing 2 723 NA D -> N (in dbSNP:rs16840208). cell adhesion (GO:0007155)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cell growth (GO:0030308)|wound healing (GO:0042060) cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887) p.D723H(1) breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2) 25 GAGCAGCTGTCAGTCCTGGAG 0.562 NA C||| 114 0.0227636 0.0008 0.049 5008 , , NA 17532 0.0754 NA 0.001 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 1 Substitution - Missense(1) breast(1) C ASN/ASP 14,3942 0,14,1964 182 185 184 2167 4.2 1 3 dbSNP_123 184 7,8317 0,7,4155 yes missense DCBLD2 NM_080927.3 23 0,21,6119 TT,TC,CC 0.0841,0.3539,0.171 possibly-damaging 723/776 98518377 21,12259 1978 4162 6140 SO:0001583 missense CCDS46878.1 3q12.2 2006-04-12 ENSG00000057019 ENSG00000057019 131566 24627 protein-coding gene gene with protein product 608698 NA 11447234 Standard NM_080927 NM_080927 NA Approved CLCP1, ESDN uc003dtd.3 Q96PD2 OTTHUMG00000151985 ENST00000326840.6:c.2167G>A chr3.hg19:g.98518377C>T ENSP00000321573:p.Asp723Asn NA B7WNL1|D3DN41|Q8N6M4|Q8TDX2 hg19 CCDS46878.1 0.02 18.752197 TGTxAGT COVERED 55 0.025183150183150184 1 0.0020325203252032522 22 0.06077348066298342 31 0.05419580419580419 1 0.0013192612137203166 C 17.92 3.507800 0.64410 0.003539 8.41E-4 ENSG00000057019 ENST00000326840;ENST00000326857 T;T 0.60920 0.15;0.15 6.02 4.25 0.50352 . 0.100471 0.64402 N 0.000003 T 0.23094 0.0558 M 0.69823 2.125 0.58432 D 0.999998 D;B 0.61080 0.989;0.003 P;B 0.61275 0.886;0.005 T 0.53858 -0.8379 10 0.62326 D 0.03 -14.1404 10.8414 0.46718 0.0:0.8481:0.0:0.1519 rs16840208;rs52818795;rs61475647;rs16840208 737;723 Q96PD2-2;Q96PD2 .;DCBD2_HUMAN N 723;737 ENSP00000321573:D723N;ENSP00000321646:D737N ENSP00000321573:D723N D - 1 0 DCBLD2 100001067 1.000000 0.71417 0.970000 0.41538 0.906000 0.53458 5.151000 0.64875 0.903000 0.36546 -0.136000 0.14681 GAC NOVEL DCBLD2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000324675.2 1 11.436514 KEEP 0 0 0 38 1314 CC 1 1 0 - 20 60 708 0 0 44.407215 452 60 17213 542 ENST00000326840.6 0.042373 1 COL8A1 1295 __UNKNOWN__ __UNKNOWN__ 3 99515556 99515556 __UNKNOWN__ 3'UTR SNP A A G rs11923371 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:99515556A>G ENST00000261037.3 + 0 3191 NM_001850.4 NP_001841.2 P27658 CO8A1_HUMAN collagen, type VIII, alpha 1 NA NA angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811) collagen type VIII trimer (GO:0005591)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231) breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1) 27 CTCTTGTATCAGAGGCTGTGT 0.488 NA A||| 284 0.0567093 0.028 0.0937 5008 , , NA 16552 0.0337 NA 0.0924 False NA ,,, NA NA NA 2504 0.0562 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF170702 CCDS2934.1 3q11.1-q13.2 2013-01-16 ENSG00000144810 ENSG00000144810 1295 Collagens 2215 protein-coding gene gene with protein product 120251 chromosome 3 open reading frame 7 C3orf7 NA 2029894 Standard NM_001850 NM_001850 NA Approved MGC9568 uc003dth.2 P27658 OTTHUMG00000148669 ENST00000261037.3:c.*576A>G chr3.hg19:g.99515556A>G NA D3DN42|Q53XI6|Q96D07 hg19 CCDS2934.1 0.02 5.771584 ATCxGAG COVERED NOVEL COL8A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000309001.1 1 8.727111 KEEP 0 0 0 29 929 AA 0.999997 0.999997 0 + 6 60 210 0 0 12.26485 187 60 7062 259 ENST00000261037.3 0.031088 1 NIT2 56954 __UNKNOWN__ __UNKNOWN__ 3 100057846 100057846 __UNKNOWN__ Intron SNP C C T rs1214381 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:100057846C>T ENST00000394140.4 + 2 98 NM_020202.4 NP_064587.1 Q9NQR4 NIT2_HUMAN nitrilase family, member 2 NA NA asparagine metabolic process (GO:0006528)|glutamine metabolic process (GO:0006541)|oxaloacetate metabolic process (GO:0006107) centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739) omega-amidase activity (GO:0050152) breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1) 17 ggggacataactgccttccat 0.453 NA T||| 1351 0.269768 0.4289 0.2032 5008 , , NA 22259 0.5179 NA 0.0417 False NA ,,, NA NA NA 2504 0.0808 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF284574 CCDS33806.1 3q12.3 2004-07-12 ENSG00000114021 ENSG00000114021 56954 29878 protein-coding gene gene with protein product NA 10959838 Standard NM_020202 NM_020202 NA Approved uc003dtv.3 Q9NQR4 OTTHUMG00000159066 ENST00000394140.4:c.8-85C>T chr3.hg19:g.100057846C>T NA B2R9A3|D3DN47|Q8WUF0 hg19 CCDS33806.1 0.02 4.390853 TAAxTGC COVERED NOVEL NIT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000353142.2 0 6.320197 KEEP 0 0 0 21 723 CC 0.999869 0.999869 0 + 15 60 557 0 0 42.408355 120 60 4393 166 ENST00000394140.4 0.111111 1 TOMM70A 9868 __UNKNOWN__ __UNKNOWN__ 3 100083511 100083511 __UNKNOWN__ 3'UTR SNP C C G rs413425 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:100083511C>G ENST00000284320.5 - 0 3172 NM_014820.4 NP_055635.3 O94826 TOM70_HUMAN translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae) NA NA cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|protein transmembrane transport (GO:0071806) integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739) protein transmembrane transporter activity (GO:0008320) endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 32 ggtctcaagcctcttgcctca 0.468 NA C||| 1267 0.252995 0.3775 0.1988 5008 , , NA 15777 0.5139 NA 0.0398 False NA ,,, NA NA NA 2504 0.0736 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB018262 CCDS33807.1 3q12.2 2013-01-10 2006-04-04 ENSG00000154174 ENSG00000154174 9868 Tetratricopeptide (TTC) repeat domain containing 11985 protein-coding gene gene with protein product 606081 translocase of outer mitochondrial membrane 70 (yeast) homolog A, translocase of outer mitochondrial membrane 70 homolog A (yeast) NA 10582581 Standard NM_014820 NA Approved KIAA0719 uc003dtw.3 O94826 OTTHUMG00000159065 ENST00000284320.5:c.*897G>C chr3.hg19:g.100083511C>G NA D3DN48 hg19 CCDS33807.1 0.02 1.954137 AGCxTCT COVERED NOVEL TOMM70A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000353141.2 0 5.718442 KEEP 0 0 0 19 674 CC 0.99986 0.999779 0 - 6 60 207 0 0 13.848837 89 70 3359 131 ENST00000284320.5 0.063158 0.999919 TOMM70A 9868 __UNKNOWN__ __UNKNOWN__ 3 100084432 100084432 __UNKNOWN__ Silent SNP G G A rs277644 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:100084432G>A ENST00000284320.5 - 12 2251 c.1803C>T c.(1801-1803)taC>taT p.Y601Y NM_014820.4 NP_055635.3 O94826 TOM70_HUMAN translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae) 601 NA cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|protein transmembrane transport (GO:0071806) integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739) protein transmembrane transporter activity (GO:0008320) endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 32 GTTTTAATCCGTATTTCTTTG 0.438 NA G||| 1266 0.252796 0.3775 0.1988 5008 , , NA 19620 0.5129 NA 0.0398 False NA ,,, NA NA NA 2504 0.0736 NA NA NA NA 0 G 1359,3047 451.6+/-349.7 202,955,1046 184 180 182 1803 -7.2 0.4 3 dbSNP_79 182 417,8183 129.7+/-187.7 14,389,3897 no coding-synonymous TOMM70A NM_014820.3 216,1344,4943 AA,AG,GG 4.8488,30.8443,13.6552 601/609 100084432 1776,11230 2203 4300 6503 SO:0001819 synonymous_variant AB018262 CCDS33807.1 3q12.2 2013-01-10 2006-04-04 ENSG00000154174 ENSG00000154174 9868 Tetratricopeptide (TTC) repeat domain containing 11985 protein-coding gene gene with protein product 606081 translocase of outer mitochondrial membrane 70 (yeast) homolog A, translocase of outer mitochondrial membrane 70 homolog A (yeast) NA 10582581 Standard NM_014820 NA Approved KIAA0719 uc003dtw.3 O94826 OTTHUMG00000159065 ENST00000284320.5:c.1803C>T chr3.hg19:g.100084432G>A NA D3DN48 hg19 CCDS33807.1 0.02 27.844553 TCCxTAT COVERED NOVEL TOMM70A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000353141.2 7 32.203665 KEEP 0 0 0 107 3692 GG 1 1 0 - 38 60 1405 0 0 97.006444 567 60 19910 848 ENST00000284320.5 0.06281 1 LNP1 348801 __UNKNOWN__ __UNKNOWN__ 3 100170825 100170825 __UNKNOWN__ Intron SNP G G A rs6797397 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:100170825G>A ENST00000383693.3 + 3 1667 LNP1_ENST00000489752.1_Intron NM_001085451.1 NP_001078920.1 A1A4G5 LNP1_HUMAN leukemia NUP98 fusion partner 1 NA NA cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 6 TATTTAAGCCGCTTTAAAAAA 0.358 NA A||| 2618 0.522764 0.5159 0.4539 5008 , , NA 17189 0.7192 NA 0.4215 False NA ,,, NA NA NA 2504 0.4826 NA NA NA NA 0 A 1724,1900 413,898,501 36 33 34 -3.2 0 3 dbSNP_116 34 3317,4831 688,1941,1445 no intron LNP1 NM_001085451.1 1101,2839,1946 AA,AG,GG 40.7094,47.5717,42.822 100170825 5041,6731 1812 4074 5886 SO:0001627 intron_variant CCDS43120.1 3q12.2 2014-05-12 ENSG00000206535 ENSG00000206535 348801 28014 protein-coding gene gene with protein product NA 16467868 Standard NM_001085451 NA Approved NP3 uc003dtx.4 A1A4G5 OTTHUMG00000159082 ENST00000383693.3:c.387+32G>A chr3.hg19:g.100170825G>A NA B7ZLT3 hg19 CCDS43120.1 0.02 1.846304 GCCxCTT COVERED NOVEL LNP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000353232.1 0 6.320412 KEEP 0 0 0 21 727 GG 0.999869 0.999799 0 + 9 60 324 0 0 23.729198 87 60 3159 136 ENST00000383693.3 0.09375 0.99993 TMEM45A 55076 __UNKNOWN__ __UNKNOWN__ 3 100287764 100287764 __UNKNOWN__ Silent SNP T T C rs28722928 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:100287764T>C ENST00000403410.1 + 7 1355 c.735T>C c.(733-735)taT>taC p.Y245Y TMEM45A_ENST00000323523.4_Silent_p.Y229Y Q9NWC5 TM45A_HUMAN transmembrane protein 45A 229 NA integral component of membrane (GO:0016021) breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2) 11 GTTGGCATTATGCAGTAACCA 0.393 NA T||| 1251 0.2498 0.3835 0.2493 5008 , , NA 19660 0.3185 NA 0.1213 False NA ,,, NA NA NA 2504 0.1309 NA NA NA NA 0 T 1506,2900 479.4+/-358.5 266,974,963 261 252 255 687 -2.4 0.1 3 dbSNP_125 255 1044,7556 220.8+/-258.4 63,918,3319 no coding-synonymous TMEM45A NM_018004.1 329,1892,4282 CC,CT,TT 12.1395,34.1807,19.6063 229/276 100287764 2550,10456 2203 4300 6503 SO:0001819 synonymous_variant AK000996 CCDS2937.1 3q12.2 2005-02-04 ENSG00000181458 ENSG00000181458 55076 25480 protein-coding gene gene with protein product NA 12477932 Standard NM_018004 XM_005247568 NA Approved FLJ10134, DERP7 uc003dtz.1 Q9NWC5 OTTHUMG00000150327 ENST00000403410.1:c.735T>C chr3.hg19:g.100287764T>C NA Q53YW5 hg19 0.02 6.922061 TTAxGCA COVERED NOVEL TMEM45A-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000317572.2 0 9.930398 KEEP 0 0 0 33 1046 TT 0.999998 0.999998 0 + 8 60 263 0 0 15.021682 224 60 8344 307 ENST00000403410.1 0.034483 1 GPR128 84873 __UNKNOWN__ __UNKNOWN__ 3 100356309 100356309 __UNKNOWN__ Intron SNP A A G rs369136715 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:100356309A>G ENST00000475887.1 + 2 330 GPR128_ENST00000273352.3_Intron Q96K78 GP128_HUMAN G protein-coupled receptor 128 NA NA G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 56 CCTAGGCTAAAGTATTAACAG 0.378 NA A||| 1 0.000199681 0.0 0.0 5008 , , NA 22498 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA Pancreas(87;185 1975 7223 18722) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK027360 CCDS2938.1 3q12.3 2014-08-08 ENSG00000144820 ENSG00000144820 84873 -, GPCR / Class B : Orphans 19241 protein-coding gene gene with protein product 612307 NA Standard NM_032787 NA Approved FLJ14454 uc003duc.3 Q96K78 OTTHUMG00000159083 ENST00000475887.1:c.61+63A>G chr3.hg19:g.100356309A>G NA Q14D94|Q86SQ2 hg19 0.02 18.002386 TAAxGTA COVERED NOVEL GPR128-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000353237.1 3 11.128895 KEEP 0 0 0 37 1136 AA 1 1 0 + 22 60 777 0 0 49.470813 456 60 16926 538 ENST00000475887.1 0.046025 1 TFG 10342 __UNKNOWN__ __UNKNOWN__ 3 100467676 100467676 __UNKNOWN__ 3'UTR SNP A A T rs7297 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:100467676A>T ENST00000240851.4 + 0 1844 TFG_ENST00000418917.2_3'UTR|TFG_ENST00000476228.1_3'UTR|TFG_ENST00000490574.1_3'UTR|TFG_ENST00000481203.1_3'UTR NM_001195478.1|NM_001195479.1|NM_006070.5 NP_001182407.1|NP_001182408.1|NP_006061.2 Q92734 TFG_HUMAN TRK-fused gene NA NA cell death (GO:0008219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062) signal transducer activity (GO:0004871) TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9) large_intestine(4)|lung(2)|prostate(1)|stomach(1) 8 TTAAAATGCTAGGGTGAGGTT 0.348 NA T NTRK1, ALK papillary thyroid, ALCL, NSCLC A||| 1790 0.357428 0.3502 0.4337 5008 , , NA 17414 0.12 NA 0.3767 False NA ,,, NA NA NA 2504 0.5378 NA NA NA Dom yes 3 3q11-q12 10342 TRK-fused gene E, L 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC009241 CCDS2939.1, CCDS56266.1 3q12.2 2013-03-13 2001-12-04 ENSG00000114354 ENSG00000114354 10342 11758 protein-coding gene gene with protein product 602498 NA 9169129, 23479643 Standard NM_006070 NM_001007565 NA Approved TF6, FLJ36137, SPG57 uc003dui.3 Q92734 OTTHUMG00000159085 ENST00000240851.4:c.*301A>T chr3.hg19:g.100467676A>T NA D3DN49|G5E9V1|Q15656|Q969I2 hg19 CCDS2939.1 0.02 8.327961 GCTxGGG COVERED NOVEL TFG-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000353242.1 0 9.454998 KEEP 0 1 30 42 1239 AA 1 1 0 + 10 60 353 0 0 22.663841 198 60 7274 280 ENST00000240851.4 0.048077 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 100816770 100816770 __UNKNOWN__ IGR SNP C C T rs6441575 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:100816770C>T NA NA ABI3BP (104411 upstream) : snoU13 (103905 downstream) NA NA NA TTTAAGGCAGCTACATCTCTA 0.498 NA T||| 3039 0.606829 0.7799 0.6383 5008 , , NA 20378 0.6895 NA 0.4324 False NA ,,, NA NA NA 2504 0.4448 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.100816770C>T NA hg19 0.02 14.236115 CAGxTAC COVERED NOVEL 0 6 17.156599 KEEP 0 0 0 57 2091 CC 1 1 0 10 60 359 0 0 20.806799 353 60 13168 517 0.027548 1 CEP97 79598 __UNKNOWN__ __UNKNOWN__ 3 101443726 101443726 __UNKNOWN__ Intron SNP A A C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:101443726A>C ENST00000494050.1 + 1 65 CEP97_ENST00000327230.4_Intron|CEP97_ENST00000341893.3_Intron NM_024548.2 NP_078824.2 Q8IW35 CEP97_HUMAN centrosomal protein 97kDa NA NA cell projection organization (GO:0030030) centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234) cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 29 GTTGTAGTTCACCTGCCGTTC 0.652 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL833269 CCDS2944.1 3q12.3 2014-02-20 2008-01-08 2008-01-08 ENSG00000182504 ENSG00000182504 79598 26244 protein-coding gene gene with protein product 615864 leucine-rich repeats and IQ motif containing 2 LRRIQ2 NA 17719545, 18068367 Standard NM_024548 NM_024548 NA Approved FLJ23047 uc003dvk.1 Q8IW35 OTTHUMG00000159162 ENST00000494050.1:c.43+163A>C chr3.hg19:g.101443726A>C NA B5MDY8|Q8NA71|Q9H5T9 hg19 0.02 0.94523 TTCxCCT COVERED NOVEL CEP97-003 NOVEL basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000353632.1 2 3.902565 KEEP 0 0 0 13 317 AA 0.995343 0.995112 0 + 24 60 238 0 0 12.635322 64 60 1677 137 ENST00000494050.1 0.272727 0.999768 CEP97 79598 __UNKNOWN__ __UNKNOWN__ 3 101467735 101467735 __UNKNOWN__ Intron SNP C C T rs2611838 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:101467735C>T ENST00000494050.1 + 7 750 CEP97_ENST00000327230.4_Intron|CEP97_ENST00000462076.1_Intron|CEP97_ENST00000341893.3_Intron NM_024548.2 NP_078824.2 Q8IW35 CEP97_HUMAN centrosomal protein 97kDa NA NA cell projection organization (GO:0030030) centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234) cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 29 ccgcccacctcggcctcccaa 0.473 NA C||| 499 0.0996406 0.0053 0.0677 5008 , , NA 15334 0.2629 NA 0.0974 False NA ,,, NA NA NA 2504 0.0838 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL833269 CCDS2944.1 3q12.3 2014-02-20 2008-01-08 2008-01-08 ENSG00000182504 ENSG00000182504 79598 26244 protein-coding gene gene with protein product 615864 leucine-rich repeats and IQ motif containing 2 LRRIQ2 NA 17719545, 18068367 Standard NM_024548 NM_024548 NA Approved FLJ23047 uc003dvk.1 Q8IW35 OTTHUMG00000159162 ENST00000494050.1:c.729-6539C>T chr3.hg19:g.101467735C>T NA B5MDY8|Q8NA71|Q9H5T9 hg19 0.02 -0.070176 CCTxGGC UNCOVERED NOVEL CEP97-003 NOVEL basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000353632.1 3 3.61172 KEEP 1 0 0 12 417 CC 0.993072 0.053762 0 + 4 60 138 0 0 13.299059 4 60 151 30 ENST00000494050.1 0.5 0.054137 NFKBIZ 64332 __UNKNOWN__ __UNKNOWN__ 3 101579158 101579158 __UNKNOWN__ 3'UTR SNP A A G rs680508 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:101579158A>G ENST00000326172.5 + 0 3215 NFKBIZ_ENST00000394054.2_3'UTR NM_031419.3 NP_113607.1 Q9BYH8 IKBZ_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta NA NA inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 gagtaactggaactacaggtg 0.527 NA G||| 3070 0.613019 0.6914 0.7248 5008 , , NA 16149 0.4435 NA 0.662 False NA ,,, NA NA NA 2504 0.5521 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF548362 CCDS2946.1, CCDS43123.1 3p12-q12 2013-01-10 ENSG00000144802 ENSG00000144802 64332 Ankyrin repeat domain containing 29805 protein-coding gene gene with protein product IL-1 inducible nuclear ankyrin-repeat protein 608004 NA 12565889, 16513645 Standard NM_031419 NM_031419 NA Approved MAIL, FLJ34463, INAP uc003dvp.3 Q9BYH8 OTTHUMG00000159194 ENST00000326172.5:c.*943A>G chr3.hg19:g.101579158A>G NA B3KNR2|D3DN54|Q8IUL4|Q8NAZ8 hg19 CCDS2946.1 0.02 4.939497 TGGxACT COVERED NOVEL NFKBIZ-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000353793.1 9 27.080091 KEEP 0 0 0 90 2844 AA 1 0.999998 0 + 7 60 263 0 0 18.109137 111 60 3968 265 ENST00000326172.5 0.059322 0.999998 ALCAM 214 __UNKNOWN__ __UNKNOWN__ 3 105238901 105238901 __UNKNOWN__ Intron SNP T T C rs2291376|rs397833083 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:105238901T>C ENST00000306107.5 + 2 573 ALCAM_ENST00000481337.1_Intron|ALCAM_ENST00000472644.2_Intron|ALCAM_ENST00000486979.2_Intron NM_001627.3 NP_001618.2 Q13740 CD166_HUMAN activated leukocyte cell adhesion molecule NA NA axon guidance (GO:0007411)|cell adhesion (GO:0007155)|motor neuron axon guidance (GO:0008045)|signal transduction (GO:0007165) axon (GO:0030424)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025) receptor binding (GO:0005102) breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 28 tttttttttttcCCCCAAAGG 0.373 NA T||| 2151 0.429513 0.4539 0.4654 5008 , , NA 16361 0.5288 NA 0.3748 False NA ,,, NA NA NA 2504 0.3252 NA NA NA NA 0 - 309,4097 134,41,2028 63 62 62 -0.9 0 3 dbSNP_100 62 165,8435 73,19,4208 no intron ALCAM NM_001627.3 207,60,6236 CC,CT,TT 1.9186,7.0132,3.6445 105238901 474,12532 2203 4300 6503 SO:0001627 intron_variant AK054632 CCDS33810.1, CCDS58841.1 3q13.1 2013-01-29 2002-08-08 ENSG00000170017 ENSG00000170017 214 CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 400 protein-coding gene gene with protein product 601662 activated leucocyte cell adhesion molecule NA 7760007 Standard NM_001627 NM_001627 NA Approved CD166, MEMD uc003dvx.3 Q13740 OTTHUMG00000159192 ENST00000306107.5:c.74-10T>C chr3.hg19:g.105238901T>C NA B2RNS3|B4DTU0|O60892|Q1HGM8|Q1HGM9|Q6PEY4|Q6ZS95 hg19 CCDS33810.1 0.02 32.410457 TTTxCCC COVERED NOVEL ALCAM-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000353764.1 2 27.682252 KEEP 0 0 0 92 2905 TT 1 1 0 + 39 70 1423 2 0 95.079077 686 70 24161 1019 ENST00000306107.5 0.053793 1 ALCAM 214 __UNKNOWN__ __UNKNOWN__ 3 105271238 105271238 __UNKNOWN__ Intron SNP G G A rs118123949 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:105271238G>A ENST00000306107.5 + 14 2046 ALCAM_ENST00000389927.4_Intron|ALCAM_ENST00000472644.2_Intron|ALCAM_ENST00000486979.2_Intron NM_001627.3 NP_001618.2 Q13740 CD166_HUMAN activated leukocyte cell adhesion molecule NA NA axon guidance (GO:0007411)|cell adhesion (GO:0007155)|motor neuron axon guidance (GO:0008045)|signal transduction (GO:0007165) axon (GO:0030424)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025) receptor binding (GO:0005102) breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 28 TTAATACAAAGTAATAGCTAG 0.318 NA G||| 30 0.00599042 0.0 0.0 5008 , , NA 18849 0.0288 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK054632 CCDS33810.1, CCDS58841.1 3q13.1 2013-01-29 2002-08-08 ENSG00000170017 ENSG00000170017 214 CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 400 protein-coding gene gene with protein product 601662 activated leucocyte cell adhesion molecule NA 7760007 Standard NM_001627 NM_001627 NA Approved CD166, MEMD uc003dvx.3 Q13740 OTTHUMG00000159192 ENST00000306107.5:c.1547-74G>A chr3.hg19:g.105271238G>A NA B2RNS3|B4DTU0|O60892|Q1HGM8|Q1HGM9|Q6PEY4|Q6ZS95 hg19 CCDS33810.1 0.02 6.683893 AAAxTAA COVERED NOVEL ALCAM-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000353764.1 1 5.417603 KEEP 0 0 0 18 648 GG 0.999859 0.999859 0 + 7 60 259 0 0 16.394006 173 60 6514 207 ENST00000306107.5 0.038889 1 IFT57 55081 __UNKNOWN__ __UNKNOWN__ 3 107880473 107880473 __UNKNOWN__ 3'UTR SNP T T G rs17828926 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:107880473T>G ENST00000264538.3 - 0 2388 NM_018010.3 NP_060480.1 Q9NWB7 IFT57_HUMAN intraflagellar transport 57 NA NA activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cilium assembly (GO:0042384)|heart looping (GO:0001947)|intraciliary transport (GO:0042073)|left/right pattern formation (GO:0060972)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351) centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|Golgi apparatus (GO:0005794)|intraciliary transport particle B (GO:0030992)|photoreceptor connecting cilium (GO:0032391) DNA binding (GO:0003677) kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2) 14 OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246) TAATGCTGCTTTTTTCACCAA 0.403 NA T||| 478 0.0954473 0.0855 0.085 5008 , , NA 17121 0.1052 NA 0.1074 False NA ,,, NA NA NA 2504 0.0941 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK001009 CCDS2951.1 3q13.13 2014-07-03 2014-07-03 2005-11-02 ENSG00000114446 ENSG00000114446 55081 Intraflagellar transport homologs 17367 protein-coding gene gene with protein product 606621 estrogen-related receptor beta like 1, intraflagellar transport 57 homolog (Chlamydomonas) ESRRBL1 NA Standard NM_018010 NM_018010 NA Approved FLJ10147, HIPPI, MHS4R2 uc003dwx.4 Q9NWB7 OTTHUMG00000159223 ENST00000264538.3:c.*851A>C chr3.hg19:g.107880473T>G NA Q96DA9 hg19 CCDS2951.1 0.02 4.725524 GCTxTTT COVERED NOVEL IFT57-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000353918.1 0 12.337215 KEEP 0 0 0 41 1305 TT 1 1 0 - 8 60 304 0 0 21.141344 123 60 4458 206 ENST00000264538.3 0.061069 1 IFT57 55081 __UNKNOWN__ __UNKNOWN__ 3 107881152 107881152 __UNKNOWN__ 3'UTR SNP T T C rs58273586 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:107881152T>C ENST00000264538.3 - 0 1709 NM_018010.3 NP_060480.1 Q9NWB7 IFT57_HUMAN intraflagellar transport 57 NA NA activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cilium assembly (GO:0042384)|heart looping (GO:0001947)|intraciliary transport (GO:0042073)|left/right pattern formation (GO:0060972)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351) centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|Golgi apparatus (GO:0005794)|intraciliary transport particle B (GO:0030992)|photoreceptor connecting cilium (GO:0032391) DNA binding (GO:0003677) kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2) 14 OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246) TATTAAACATTACATTCAGTG 0.289 NA T||| 454 0.090655 0.0703 0.085 5008 , , NA 20396 0.1052 NA 0.1074 False NA ,,, NA NA NA 2504 0.09 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK001009 CCDS2951.1 3q13.13 2014-07-03 2014-07-03 2005-11-02 ENSG00000114446 ENSG00000114446 55081 Intraflagellar transport homologs 17367 protein-coding gene gene with protein product 606621 estrogen-related receptor beta like 1, intraflagellar transport 57 homolog (Chlamydomonas) ESRRBL1 NA Standard NM_018010 NM_018010 NA Approved FLJ10147, HIPPI, MHS4R2 uc003dwx.4 Q9NWB7 OTTHUMG00000159223 ENST00000264538.3:c.*172A>G chr3.hg19:g.107881152T>C NA Q96DA9 hg19 CCDS2951.1 0.02 4.408846 CATxACA COVERED NOVEL IFT57-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000353918.1 2 3.008485 KEEP 0 0 0 10 310 TT 0.992708 0.992708 0 - 5 60 191 0 0 12.234925 128 60 4486 160 ENST00000264538.3 0.037594 1 HHLA2 11148 __UNKNOWN__ __UNKNOWN__ 3 108081217 108081217 __UNKNOWN__ Missense_Mutation SNP C C A rs3792332 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:108081217C>A ENST00000357759.5 + 7 1446 c.1032C>A c.(1030-1032)aaC>aaA p.N344K HHLA2_ENST00000467562.1_Missense_Mutation_p.N280K|HHLA2_ENST00000467761.1_Missense_Mutation_p.N344K|HHLA2_ENST00000491820.1_Missense_Mutation_p.N344K|HHLA2_ENST00000489514.2_Missense_Mutation_p.N344K NM_007072.2 NP_009003.1 Q9UM44 HHLA2_HUMAN HERV-H LTR-associating 2 344 NA N -> K (in dbSNP:rs3792332). positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytokine production (GO:0001819)|T cell costimulation (GO:0031295) integral component of membrane (GO:0016021) endometrium(2)|large_intestine(1)|lung(14)|ovary(1) 18 CTTCCCATAACAAAGGCTTAT 0.413 NA C||| 536 0.107029 0.1672 0.0735 5008 , , NA 17654 0.1399 NA 0.0417 False NA ,,, NA NA NA 2504 0.0828 NA NA NA NA 0 C LYS/ASN 503,3147 33,437,1355 114 101 105 1032 -1.6 0 3 dbSNP_107 105 340,7840 7,326,3757 yes missense HHLA2 NM_007072.2 94 40,763,5112 AA,AC,CC 4.1565,13.7808,7.126 benign 344/415 108081217 843,10987 1825 4090 5915 SO:0001583 missense AF126162 CCDS46883.1, CCDS63713.1, CCDS74975.1 3q13.13 2013-01-11 ENSG00000114455 ENSG00000114455 11148 Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C1-set domain containing 4905 protein-coding gene gene with protein product 604371 NA 10444326 Standard NM_007072 NM_007072 NA Approved B7H7 uc003dwz.3 Q9UM44 OTTHUMG00000159224 ENST00000357759.5:c.1032C>A chr3.hg19:g.108081217C>A ENSP00000350402:p.Asn344Lys NA B4DKN2|D3DN60|Q9NWQ6 hg19 CCDS46883.1 0.02 11.003326 TAAxAAA COVERED 218|218 0.09981684981684982|0.09981684981684982 79|79 0.16056910569105692|0.16056910569105692 32|32 0.08839779005524862|0.08839779005524862 76|76 0.13286713286713286|0.13286713286713286 31|31 0.040897097625329816|0.040897097625329816 C|C 6.108|6.108 0.388214|0.388214 0.11581|0.11581 0.137808|0.137808 0.041565|0.041565 ENSG00000114455|ENSG00000114455 ENST00000491820;ENST00000467562;ENST00000357759;ENST00000467761;ENST00000489514|ENST00000482099 T;T;T;T;T|. 0.09817|. 5.12;2.94;5.08;5.08;5.08|. 1.58|1.58 -1.56|-1.56 0.08532|0.08532 .|. .|. .|. .|. .|. T|T 0.00073|0.00073 0.0002|0.0002 N|N 0.14661|0.14661 0.345|0.345 0.80722|0.80722 P|P 0.0|0.0 B;B;B|. 0.02656|. 0.0;0.0;0.0|. B;B;B|. 0.04013|. 0.0;0.001;0.001|. T|T 0.26883|0.26883 -1.0090|-1.0090 8|4 0.66056|. D|. 0.02|. .|. 1.7016|1.7016 0.02873|0.02873 0.343:0.3055:0.0:0.3515|0.343:0.3055:0.0:0.3515 rs3792332;rs52801242;rs3792332|rs3792332;rs52801242;rs3792332 280;344;344|. B4DKN2;C9J7D0;Q9UM44|. .;.;HHLA2_HUMAN|. K|K 344;280;344;344;344|247 ENSP00000418284:N344K;ENSP00000418345:N280K;ENSP00000350402:N344K;ENSP00000419207:N344K;ENSP00000417856:N344K|. ENSP00000350402:N344K|. N|Q +|+ 3|1 2|0 HHLA2|HHLA2 109563907|109563907 0.001000|0.001000 0.12720|0.12720 0.000000|0.000000 0.03702|0.03702 0.001000|0.001000 0.01503|0.01503 0.403000|0.403000 0.20982|0.20982 -0.452000|-0.452000 0.07087|0.07087 0.655000|0.655000 0.94253|0.94253 AAC|CAA NOVEL HHLA2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000353924.1 2 11.956409 KEEP 0 1 29 50 1729 CC 1 1 0 + 13 60 395 0 0 23.768662 262 70 9543 431 ENST00000357759.5 0.047273 1 HHLA2 11148 __UNKNOWN__ __UNKNOWN__ 3 108096638 108096638 __UNKNOWN__ 3'UTR SNP G G A rs60503747 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:108096638G>A ENST00000357759.5 + 0 2172 HHLA2_ENST00000467761.1_3'UTR|HHLA2_ENST00000489514.2_3'UTR NM_007072.2 NP_009003.1 Q9UM44 HHLA2_HUMAN HERV-H LTR-associating 2 NA NA positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytokine production (GO:0001819)|T cell costimulation (GO:0031295) integral component of membrane (GO:0016021) endometrium(2)|large_intestine(1)|lung(14)|ovary(1) 18 TAACCAACTCGATTTGGGATG 0.423 NA G||| 564 0.11262 0.1868 0.0692 5008 , , NA 18383 0.1438 NA 0.0437 False NA ,,, NA NA NA 2504 0.0818 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF126162 CCDS46883.1, CCDS63713.1, CCDS74975.1 3q13.13 2013-01-11 ENSG00000114455 ENSG00000114455 11148 Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C1-set domain containing 4905 protein-coding gene gene with protein product 604371 NA 10444326 Standard NM_007072 NM_007072 NA Approved B7H7 uc003dwz.3 Q9UM44 OTTHUMG00000159224 ENST00000357759.5:c.*513G>A chr3.hg19:g.108096638G>A NA B4DKN2|D3DN60|Q9NWQ6 hg19 CCDS46883.1 0.02 8.02171 CTCxATT COVERED NOVEL HHLA2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000353924.1 1 10.232294 KEEP 0 0 0 34 1141 GG 0.999998 0.999998 0 + 10 60 361 0 0 22.773757 233 60 8247 334 ENST00000357759.5 0.041152 1 RETNLB 84666 __UNKNOWN__ __UNKNOWN__ 3 108474507 108474507 __UNKNOWN__ 3'UTR SNP T T C rs1374821 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:108474507T>C ENST00000295755.6 - 0 652 RETNLB_ENST00000482939.1_Intron NM_032579.2 NP_115968.1 Q9BQ08 RETNB_HUMAN resistin like beta NA NA cell proliferation (GO:0008283) extracellular region (GO:0005576) endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1) 16 TTTGTCTTTATTACCCAAGAA 0.438 NA T||| 2109 0.421126 0.2814 0.3732 5008 , , NA 15795 0.9464 NA 0.173 False NA ,,, NA NA NA 2504 0.3579 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF290873 CCDS2953.1 3q13.1 2008-02-05 ENSG00000163515 ENSG00000163515 84666 20388 protein-coding gene gene with protein product 605645 NA 10921885, 12574343 Standard NM_032579 NA Approved HXCP2, FIZZ2, RELMb uc003dxh.2 Q9BQ08 OTTHUMG00000159393 ENST00000295755.6:c.*118A>G chr3.hg19:g.108474507T>C NA Q14D27 hg19 CCDS2953.1 0.02 24.238219 TTAxTAC COVERED NOVEL RETNLB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000355093.1 0 14.442388 KEEP 0 0 0 48 1506 TT 1 1 0 - 30 60 1115 0 0 75.650821 509 60 18666 699 ENST00000295755.6 0.055659 1 RETNLB 84666 __UNKNOWN__ __UNKNOWN__ 3 108476205 108476205 __UNKNOWN__ 5'UTR SNP G G A rs10933959 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:108476205G>A ENST00000295755.6 - 0 26 NM_032579.2 NP_115968.1 Q9BQ08 RETNB_HUMAN resistin like beta NA NA cell proliferation (GO:0008283) extracellular region (GO:0005576) endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1) 16 GGAGAAGCAGGTAGGGTTGCT 0.448 NA G||| 2128 0.42492 0.292 0.3746 5008 , , NA 20755 0.9464 NA 0.1769 False NA ,,, NA NA NA 2504 0.3579 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF290873 CCDS2953.1 3q13.1 2008-02-05 ENSG00000163515 ENSG00000163515 84666 20388 protein-coding gene gene with protein product 605645 NA 10921885, 12574343 Standard NM_032579 NA Approved HXCP2, FIZZ2, RELMb uc003dxh.2 Q9BQ08 OTTHUMG00000159393 ENST00000295755.6:c.-173C>T chr3.hg19:g.108476205G>A NA Q14D27 hg19 CCDS2953.1 0.02 4.646939 CAGxTAG COVERED NOVEL RETNLB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000355093.1 0 4.815772 KEEP 0 0 0 16 572 GG 0.997832 0.997819 0 - 6 60 224 0 0 15.279554 99 60 3704 167 ENST00000295755.6 0.057143 0.999987 MORC1 27136 __UNKNOWN__ __UNKNOWN__ 3 108703587 108703587 __UNKNOWN__ Missense_Mutation SNP C C T rs2290057 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:108703587C>T ENST00000483760.1 - 22 2280 c.2237G>A c.(2236-2238)aGc>aAc p.S746N MORC1_ENST00000232603.5_Missense_Mutation_p.S767N MORC family CW-type zinc finger 1 NA NA breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 TAATGAAGAGCTTCTTTTCAT 0.343 NA C||| 1369 0.273363 0.0113 0.2968 5008 , , NA 18376 0.6399 NA 0.1869 False NA ,,, NA NA NA 2504 0.3221 NA NA NA NA 0 C ASN/SER 179,4227 115.4+/-153.4 4,171,2028 107 96 100 2300 -0.1 0.1 3 dbSNP_100 100 1649,6949 303.4+/-306.4 172,1305,2822 yes missense MORC1 NM_014429.3 46 176,1476,4850 TT,TC,CC 19.1789,4.0626,14.0572 benign 767/985 108703587 1828,11176 2203 4299 6502 SO:0001583 missense AF084946 CCDS2955.1 3q13 2011-10-26 2005-06-15 2005-06-15 ENSG00000114487 ENSG00000114487 27136 7198 protein-coding gene gene with protein product cancer/testis antigen 33 603205 microrchidia (mouse) homolog, microrchidia homolog (mouse) MORC NA 10369865 Standard NM_014429 NA Approved ZCW6, CT33 uc003dxl.3 Q86VD1 OTTHUMG00000159209 ENST00000483760.1:c.2237G>A chr3.hg19:g.108703587C>T ENSP00000417282:p.Ser746Asn NA hg19 0.02 8.399124 GAGxTTC COVERED 618 0.28296703296703296 9 0.018292682926829267 89 0.24585635359116023 385 0.6730769230769231 135 0.17810026385224276 C 0 -2.608932 0.00121 0.040626 0.191789 ENSG00000114487 ENST00000232603;ENST00000483760 T;T 0.04603 3.61;3.59 5.49 -0.0644 0.13772 . 0.342268 0.25425 N 0.030765 T 0.00012 0.0000 N 0.01168 -0.975 0.80722 P 0.0 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.28586 -1.0039 9 0.02654 T 1 -3.8754 0.8362 0.01140 0.1531:0.2097:0.1593:0.478 rs2290057;rs52821386;rs57469576;rs2290057 746;767 E7ERX1;Q86VD1 .;MORC1_HUMAN N 767;746 ENSP00000232603:S767N;ENSP00000417282:S746N ENSP00000232603:S767N S - 2 0 MORC1 110186277 0.062000 0.20869 0.094000 0.20943 0.040000 0.13550 -0.439000 0.06897 -0.157000 0.11059 -1.251000 0.01509 AGC NOVEL MORC1-002 NOVEL basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000353844.1 1 6.320839 KEEP 0 0 0 21 768 CC 0.999869 0.999869 0 - 16 60 566 0 0 38.895889 218 60 8338 320 ENST00000483760.1 0.068376 1 PVRL3 25945 __UNKNOWN__ __UNKNOWN__ 3 110854127 110854127 __UNKNOWN__ Intron SNP G G A rs76487055 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:110854127G>A ENST00000493615.1 + 5 1252 PVRL3_ENST00000485303.1_3'UTR NM_001243288.1 NP_001230217.1 Q9NQS3 PVRL3_HUMAN poliovirus receptor-related 3 NA NA adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|fertilization (GO:0009566)|homophilic cell adhesion (GO:0007156)|lens morphogenesis in camera-type eye (GO:0002089)|retina morphogenesis in camera-type eye (GO:0060042)|single organismal cell-cell adhesion (GO:0016337) apical junction complex (GO:0043296)|cell-cell adherens junction (GO:0005913)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211) cell adhesion molecule binding (GO:0050839)|protein homodimerization activity (GO:0042803) breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3) 19 AGAATTAGTCGGTAACACTTG 0.303 NA G||| 838 0.167332 0.1982 0.098 5008 , , NA 15706 0.4206 NA 0.0268 False NA ,,, NA NA NA 2504 0.0583 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF282874 CCDS2957.1, CCDS58842.1, CCDS58843.1 3q13 2013-01-29 ENSG00000177707 ENSG00000177707 25945 CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 17664 protein-coding gene gene with protein product 607147 NA 11024295 Standard NM_015480 NM_015480 NA Approved nectin-3, PPR3, PVRR3, DKFZP566B0846, CDw113, CD113 uc003dxt.2 Q9NQS3 OTTHUMG00000159239 ENST00000493615.1:c.1000+8945G>A chr3.hg19:g.110854127G>A NA E9PFR0|Q6NVZ3|Q8NC05|Q8WVU4|Q9BVA9|Q9Y412 hg19 CCDS58843.1 0.02 11.814337 GTCxGTA COVERED NOVEL PVRL3-003 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000354046.1 3 15.044054 KEEP 0 0 0 50 1655 GG 1 1 0 + 24 60 902 0 0 65.3747 275 60 9571 422 ENST00000493615.1 0.080268 1 PVRL3 25945 __UNKNOWN__ __UNKNOWN__ 3 110863855 110863855 __UNKNOWN__ Silent SNP A A C rs3733174 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:110863855A>C ENST00000493615.1 + 6 1362 c.1110A>C c.(1108-1110)cgA>cgC p.R370R NM_001243288.1 NP_001230217.1 Q9NQS3 PVRL3_HUMAN poliovirus receptor-related 3 171 NA adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|fertilization (GO:0009566)|homophilic cell adhesion (GO:0007156)|lens morphogenesis in camera-type eye (GO:0002089)|retina morphogenesis in camera-type eye (GO:0060042)|single organismal cell-cell adhesion (GO:0016337) apical junction complex (GO:0043296)|cell-cell adherens junction (GO:0005913)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211) cell adhesion molecule binding (GO:0050839)|protein homodimerization activity (GO:0042803) breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3) 19 TGACTCCTCGAAAAAAAAGAC 0.393 NA A||| 321 0.0640974 0.0484 0.0101 5008 , , NA 18087 0.1925 NA 0.0179 False NA ,,, NA NA NA 2504 0.0389 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001819 synonymous_variant AF282874 CCDS2957.1, CCDS58842.1, CCDS58843.1 3q13 2013-01-29 ENSG00000177707 ENSG00000177707 25945 CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 17664 protein-coding gene gene with protein product 607147 NA 11024295 Standard NM_015480 NM_015480 NA Approved nectin-3, PPR3, PVRR3, DKFZP566B0846, CDw113, CD113 uc003dxt.2 Q9NQS3 OTTHUMG00000159239 ENST00000493615.1:c.1110A>C chr3.hg19:g.110863855A>C NA E9PFR0|Q6NVZ3|Q8NC05|Q8WVU4|Q9BVA9|Q9Y412 hg19 CCDS58843.1 0.02 20.064932 TCGxAAA COVERED NOVEL PVRL3-003 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000354046.1 4 25.87756 KEEP 0 0 0 86 2723 AA 1 1 0 + 15 60 571 0 0 35.102707 478 60 17340 726 ENST00000493615.1 0.030426 1 CD96 10225 __UNKNOWN__ __UNKNOWN__ 3 111298145 111298145 __UNKNOWN__ Intron SNP A A G rs9831496 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:111298145A>G ENST00000352690.4 + 4 991 CD96_ENST00000438817.2_Intron|CD96_ENST00000283285.5_Intron NM_005816.4 NP_005807.1 P40200 TACT_HUMAN CD96 molecule NA NA cell adhesion (GO:0007155)|immune response (GO:0006955)|regulation of immune response (GO:0050776) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5) 35 TCTTCCTTGAAGAGGAAGCAC 0.502 NA Opitz Trigonocephaly syndrome A||| 697 0.139177 0.003 0.1715 5008 , , NA 18790 0.2401 NA 0.1511 False NA ,,, NA NA NA 2504 0.184 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database C syndrome, Trigonocephaly syndrome M88282 CCDS2958.1, CCDS2959.1 3p13-q13.2 2013-01-11 2006-03-28 ENSG00000153283 ENSG00000153283 10225 CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 16892 protein-coding gene gene with protein product 606037 CD96 antigen NA 1313846 Standard XR_241462 NA Approved TACTILE uc003dxx.3 P40200 OTTHUMG00000159275 ENST00000352690.4:c.751+64A>G chr3.hg19:g.111298145A>G NA Q5JPB3 hg19 CCDS2958.1 0.02 9.699833 TGAxGAG COVERED NOVEL CD96-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000354313.2 0 7.523312 KEEP 0 0 0 25 808 AA 0.999931 0.999931 0 + 16 60 598 0 0 42.842744 195 60 6974 268 ENST00000352690.4 0.075829 1 PHLDB2 90102 __UNKNOWN__ __UNKNOWN__ 3 111602770 111602770 __UNKNOWN__ Intron SNP G G A rs6805339 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:111602770G>A ENST00000431670.2 + 2 397 PHLDB2_ENST00000393923.3_Intron|PHLDB2_ENST00000477695.1_Intron|PHLDB2_ENST00000412622.1_Intron|PHLDB2_ENST00000478922.1_Intron|PHLDB2_ENST00000393925.3_Intron NM_001134438.1 NP_001127910.1 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, member 2 NA NA cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886) breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 GTTTTAACAGGTTTTTTAGTA 0.328 NA G||| 2310 0.461262 0.2572 0.4654 5008 , , NA 20432 0.7034 NA 0.5089 False NA ,,, NA NA NA 2504 0.4356 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS2962.1, CCDS46885.1, CCDS46886.1 3q13.13 2013-01-10 ENSG00000144824 ENSG00000144824 90102 Pleckstrin homology (PH) domain containing 29573 protein-coding gene gene with protein product 610298 NA 12376540 Standard NM_145753 NM_145753 NA Approved LL5beta, FLJ21791, LL5b uc003dyg.3 Q86SQ0 OTTHUMG00000159282 ENST00000431670.2:c.-14-141G>A chr3.hg19:g.111602770G>A NA A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5 hg19 CCDS46886.1 0.02 4.021284 CAGxTTT COVERED NOVEL PHLDB2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000354337.1 2 5.452908 KEEP 0 1 34 30 1040 GG 0.999997 0.999997 0 + 6 60 220 0 0 14.053501 137 60 4959 206 ENST00000431670.2 0.041958 1 PHLDB2 90102 __UNKNOWN__ __UNKNOWN__ 3 111602828 111602828 __UNKNOWN__ Intron SNP G G A rs6805359 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:111602828G>A ENST00000431670.2 + 2 397 PHLDB2_ENST00000393923.3_Intron|PHLDB2_ENST00000477695.1_Intron|PHLDB2_ENST00000412622.1_Intron|PHLDB2_ENST00000481953.1_5'UTR|PHLDB2_ENST00000478922.1_Intron|PHLDB2_ENST00000393925.3_Intron NM_001134438.1 NP_001127910.1 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, member 2 NA NA cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886) breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 CTGCAAGATTGTTTGTTCAGA 0.313 NA A||| 2715 0.542133 0.32 0.5101 5008 , , NA 20889 0.7996 NA 0.5139 False NA ,,, NA NA NA 2504 0.6288 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS2962.1, CCDS46885.1, CCDS46886.1 3q13.13 2013-01-10 ENSG00000144824 ENSG00000144824 90102 Pleckstrin homology (PH) domain containing 29573 protein-coding gene gene with protein product 610298 NA 12376540 Standard NM_145753 NM_145753 NA Approved LL5beta, FLJ21791, LL5b uc003dyg.3 Q86SQ0 OTTHUMG00000159282 ENST00000431670.2:c.-14-83G>A chr3.hg19:g.111602828G>A NA A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5 hg19 CCDS46886.1 0.02 8.193191 ATTxTTT COVERED NOVEL PHLDB2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000354337.1 3 8.096772 KEEP 0 2 63 49 1772 GG 1 1 0 + 8 60 296 0 0 18.629281 204 60 7776 330 ENST00000431670.2 0.037736 1 PHLDB2 90102 __UNKNOWN__ __UNKNOWN__ 3 111633835 111633835 __UNKNOWN__ Intron SNP A A G rs6784285 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:111633835A>G ENST00000495180.1 + 2 499 PHLDB2_ENST00000393923.3_Intron|PHLDB2_ENST00000431670.2_Intron|PHLDB2_ENST00000477695.1_3'UTR|PHLDB2_ENST00000412622.1_Intron|PHLDB2_ENST00000481953.1_Intron|PHLDB2_ENST00000393925.3_Intron Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, member 2 NA NA cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886) breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 tccaaaaatgatttgaaggag 0.264 NA A||| 2006 0.400559 0.2398 0.4179 5008 , , NA 15393 0.6687 NA 0.3877 False NA ,,, NA NA NA 2504 0.3425 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS2962.1, CCDS46885.1, CCDS46886.1 3q13.13 2013-01-10 ENSG00000144824 ENSG00000144824 90102 Pleckstrin homology (PH) domain containing 29573 protein-coding gene gene with protein product 610298 NA 12376540 Standard NM_145753 NM_145753 NA Approved LL5beta, FLJ21791, LL5b uc003dyg.3 Q86SQ0 OTTHUMG00000159282 ENST00000495180.1:c.477+1286A>G chr3.hg19:g.111633835A>G NA A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5 hg19 0.02 6.249465 ATGxTTT COVERED NOVEL PHLDB2-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000354340.1 4 17.753224 KEEP 0 0 0 59 1847 AA 1 1 0 + 12 60 432 0 0 29.666038 172 60 6313 275 ENST00000495180.1 0.065217 1 PHLDB2 90102 __UNKNOWN__ __UNKNOWN__ 3 111634902 111634902 __UNKNOWN__ Intron SNP A A G rs12491508 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:111634902A>G ENST00000495180.1 + 2 499 PHLDB2_ENST00000393923.3_Intron|PHLDB2_ENST00000431670.2_Intron|PHLDB2_ENST00000477695.1_3'UTR|PHLDB2_ENST00000412622.1_Intron|PHLDB2_ENST00000481953.1_Intron|PHLDB2_ENST00000393925.3_Intron Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, member 2 NA NA cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886) breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 TGCTGTCTCTAAAGACTATCT 0.398 NA A||| 1694 0.338259 0.0545 0.3934 5008 , , NA 21274 0.6687 NA 0.3519 False NA ,,, NA NA NA 2504 0.3282 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS2962.1, CCDS46885.1, CCDS46886.1 3q13.13 2013-01-10 ENSG00000144824 ENSG00000144824 90102 Pleckstrin homology (PH) domain containing 29573 protein-coding gene gene with protein product 610298 NA 12376540 Standard NM_145753 NM_145753 NA Approved LL5beta, FLJ21791, LL5b uc003dyg.3 Q86SQ0 OTTHUMG00000159282 ENST00000495180.1:c.477+2353A>G chr3.hg19:g.111634902A>G NA A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5 hg19 0.02 4.586713 TCTxAAG COVERED NOVEL PHLDB2-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000354340.1 0 5.112414 KEEP 0 0 0 17 489 AA 0.999366 0.999366 0 + 11 60 422 0 0 30.478288 136 60 4857 185 ENST00000495180.1 0.07483 1 PHLDB2 90102 __UNKNOWN__ __UNKNOWN__ 3 111635403 111635403 __UNKNOWN__ Intron SNP G G A rs1282944 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:111635403G>A ENST00000495180.1 + 3 499 PHLDB2_ENST00000393923.3_Intron|PHLDB2_ENST00000431670.2_Intron|PHLDB2_ENST00000477695.1_3'UTR|PHLDB2_ENST00000412622.1_Intron|PHLDB2_ENST00000481953.1_Intron|PHLDB2_ENST00000393925.3_Intron Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, member 2 NA NA cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886) breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 TAACTATACAGAACAATCTTA 0.313 NA A||| 2232 0.445687 0.4319 0.4236 5008 , , NA 19716 0.6706 NA 0.3598 False NA ,,, NA NA NA 2504 0.3364 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS2962.1, CCDS46885.1, CCDS46886.1 3q13.13 2013-01-10 ENSG00000144824 ENSG00000144824 90102 Pleckstrin homology (PH) domain containing 29573 protein-coding gene gene with protein product 610298 NA 12376540 Standard NM_145753 NM_145753 NA Approved LL5beta, FLJ21791, LL5b uc003dyg.3 Q86SQ0 OTTHUMG00000159282 ENST00000495180.1:c.478-2516G>A chr3.hg19:g.111635403G>A NA A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5 hg19 0.02 8.292646 ACAxAAC COVERED NOVEL PHLDB2-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000354340.1 2 10.835348 KEEP 0 0 0 36 1296 GG 0.999999 0.999999 0 + 10 60 361 0 0 23.375675 202 60 7667 285 ENST00000495180.1 0.04717 1 PHLDB2 90102 __UNKNOWN__ __UNKNOWN__ 3 111635605 111635605 __UNKNOWN__ Intron SNP A A G rs968825 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:111635605A>G ENST00000495180.1 + 3 499 PHLDB2_ENST00000393923.3_Intron|PHLDB2_ENST00000431670.2_Intron|PHLDB2_ENST00000477695.1_3'UTR|PHLDB2_ENST00000412622.1_Intron|PHLDB2_ENST00000481953.1_Intron|PHLDB2_ENST00000393925.3_Intron Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, member 2 NA NA cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886) breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 TTTGGCTGCAAAAAGGGTTTT 0.473 NA A||| 2275 0.454273 0.2761 0.4366 5008 , , NA 17664 0.7361 NA 0.3887 False NA ,,, NA NA NA 2504 0.4847 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS2962.1, CCDS46885.1, CCDS46886.1 3q13.13 2013-01-10 ENSG00000144824 ENSG00000144824 90102 Pleckstrin homology (PH) domain containing 29573 protein-coding gene gene with protein product 610298 NA 12376540 Standard NM_145753 NM_145753 NA Approved LL5beta, FLJ21791, LL5b uc003dyg.3 Q86SQ0 OTTHUMG00000159282 ENST00000495180.1:c.478-2314A>G chr3.hg19:g.111635605A>G NA A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5 hg19 0.02 9.534138 GCAxAAA COVERED NOVEL PHLDB2-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000354340.1 1 14.1431 KEEP 0 0 0 47 1494 AA 1 1 0 + 18 60 681 0 0 50.133483 189 60 6744 294 ENST00000495180.1 0.086957 1 PHLDB2 90102 __UNKNOWN__ __UNKNOWN__ 3 111636102 111636102 __UNKNOWN__ Intron SNP A A G rs3749297 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:111636102A>G ENST00000495180.1 + 3 499 PHLDB2_ENST00000393923.3_Intron|PHLDB2_ENST00000431670.2_Intron|PHLDB2_ENST00000477695.1_3'UTR|PHLDB2_ENST00000412622.1_Intron|PHLDB2_ENST00000481953.1_Intron|PHLDB2_ENST00000393925.3_Intron Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, member 2 NA NA cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886) breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 TACTGTGATAAACTTTCTAAA 0.274 NA A||| 2270 0.453275 0.2716 0.4366 5008 , , NA 17544 0.7361 NA 0.3887 False NA ,,, NA NA NA 2504 0.4857 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS2962.1, CCDS46885.1, CCDS46886.1 3q13.13 2013-01-10 ENSG00000144824 ENSG00000144824 90102 Pleckstrin homology (PH) domain containing 29573 protein-coding gene gene with protein product 610298 NA 12376540 Standard NM_145753 NM_145753 NA Approved LL5beta, FLJ21791, LL5b uc003dyg.3 Q86SQ0 OTTHUMG00000159282 ENST00000495180.1:c.478-1817A>G chr3.hg19:g.111636102A>G NA A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5 hg19 0.02 9.833909 ATAxACT COVERED NOVEL PHLDB2-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000354340.1 2 8.660021 KEEP 0 1 35 41 1289 AA 1 1 0 + 14 60 521 0 0 36.538518 193 70 6950 292 ENST00000495180.1 0.067633 1 PHLDB2 90102 __UNKNOWN__ __UNKNOWN__ 3 111636496 111636496 __UNKNOWN__ Intron SNP A A G rs6438021 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:111636496A>G ENST00000495180.1 + 3 499 PHLDB2_ENST00000393923.3_Intron|PHLDB2_ENST00000431670.2_Intron|PHLDB2_ENST00000477695.1_3'UTR|PHLDB2_ENST00000412622.1_Intron|PHLDB2_ENST00000481953.1_Intron|PHLDB2_ENST00000393925.3_Intron Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, member 2 NA NA cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886) breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 GACAATTAAAAAGCTAAATGT 0.333 NA G||| 2232 0.445687 0.2443 0.4352 5008 , , NA 18944 0.7361 NA 0.3877 False NA ,,, NA NA NA 2504 0.4857 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS2962.1, CCDS46885.1, CCDS46886.1 3q13.13 2013-01-10 ENSG00000144824 ENSG00000144824 90102 Pleckstrin homology (PH) domain containing 29573 protein-coding gene gene with protein product 610298 NA 12376540 Standard NM_145753 NM_145753 NA Approved LL5beta, FLJ21791, LL5b uc003dyg.3 Q86SQ0 OTTHUMG00000159282 ENST00000495180.1:c.478-1423A>G chr3.hg19:g.111636496A>G NA A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5 hg19 0.02 2.35601 AAAxAGC COVERED NOVEL PHLDB2-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000354340.1 0 3.610975 KEEP 0 0 0 12 383 AA 0.993634 0.991202 0 + 4 60 162 0 0 11.401251 68 60 2423 112 ENST00000495180.1 0.055556 0.997553 PHLDB2 90102 __UNKNOWN__ __UNKNOWN__ 3 111637816 111637816 __UNKNOWN__ Intron SNP A A G rs16858868 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:111637816A>G ENST00000495180.1 + 3 499 PHLDB2_ENST00000393923.3_Intron|PHLDB2_ENST00000431670.2_Intron|PHLDB2_ENST00000412622.1_Intron|PHLDB2_ENST00000481953.1_Intron|PHLDB2_ENST00000393925.3_Intron Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, member 2 NA NA cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886) breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 CTACATGGGCATGGAGACTGT 0.453 NA A||| 1695 0.338458 0.0545 0.3905 5008 , , NA 20993 0.6706 NA 0.3519 False NA ,,, NA NA NA 2504 0.3292 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS2962.1, CCDS46885.1, CCDS46886.1 3q13.13 2013-01-10 ENSG00000144824 ENSG00000144824 90102 Pleckstrin homology (PH) domain containing 29573 protein-coding gene gene with protein product 610298 NA 12376540 Standard NM_145753 NM_145753 NA Approved LL5beta, FLJ21791, LL5b uc003dyg.3 Q86SQ0 OTTHUMG00000159282 ENST00000495180.1:c.478-103A>G chr3.hg19:g.111637816A>G NA A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5 hg19 0.02 3.885562 GGCxTGG COVERED NOVEL PHLDB2-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000354340.1 0 5.114172 KEEP 0 0 0 17 521 AA 0.999366 0.999362 0 + 11 60 362 0 0 25.791561 102 60 3653 132 ENST00000495180.1 0.097345 0.999995 PHLDB2 90102 __UNKNOWN__ __UNKNOWN__ 3 111658290 111658290 __UNKNOWN__ Intron SNP T T G rs712509 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:111658290T>G ENST00000495180.1 + 6 910 PHLDB2_ENST00000393923.3_Intron|PHLDB2_ENST00000431670.2_Intron|PHLDB2_ENST00000412622.1_Intron|PHLDB2_ENST00000481953.1_Intron|PHLDB2_ENST00000393925.3_Intron Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, member 2 NA NA cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886) breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 GTTATCTCAGTGTGTCTTGTT 0.383 NA T||| 3070 0.613019 0.6452 0.5519 5008 , , NA 21255 0.7659 NA 0.4722 False NA ,,, NA NA NA 2504 0.6002 NA NA NA NA 0 T ,,, 2703,1703 651.0+/-399.1 845,1013,345 78 74 75 ,,, 2 0 3 dbSNP_86 75 3685,4915 523.2+/-380.3 812,2061,1427 no intron,intron,intron,intron PHLDB2 NM_001134437.1,NM_001134438.1,NM_001134439.1,NM_145753.2 ,,, 1657,3074,1772 GG,GT,TT 42.8488,38.6518,49.1158 ,,, ,,, 111658290 6388,6618 2203 4300 6503 SO:0001627 intron_variant CCDS2962.1, CCDS46885.1, CCDS46886.1 3q13.13 2013-01-10 ENSG00000144824 ENSG00000144824 90102 Pleckstrin homology (PH) domain containing 29573 protein-coding gene gene with protein product 610298 NA 12376540 Standard NM_145753 NM_145753 NA Approved LL5beta, FLJ21791, LL5b uc003dyg.3 Q86SQ0 OTTHUMG00000159282 ENST00000495180.1:c.889-32T>G chr3.hg19:g.111658290T>G NA A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5 hg19 0.02 5.809305 CAGxGTG COVERED NOVEL PHLDB2-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000354340.1 0 11.129199 KEEP 0 0 0 37 1104 TT 1 1 0 + 8 60 284 0 0 18.319438 157 60 5444 226 ENST00000495180.1 0.048485 1 TMPRSS7 344805 __UNKNOWN__ __UNKNOWN__ 3 111760773 111760773 __UNKNOWN__ Missense_Mutation SNP C C T rs386664649|rs11929695 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:111760773C>T ENST00000452346.2 + 3 308 c.305C>T c.(304-306)aCa>aTa p.T102I TMPRSS7_ENST00000419127.1_5'UTR Q7RTY8 TMPS7_HUMAN transmembrane protease, serine 7 102 NA proteolysis (GO:0006508) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236) breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 ACAGGTAAAACAGAAAGCAAA 0.408 NA C||| 853 0.170327 0.205 0.0807 5008 , , NA 20098 0.13 NA 0.0875 False NA ,,, NA NA NA 2504 0.3139 NA NA NA NA 0 C 266,1118 26,214,452 66 57 60 5.6 1 3 dbSNP_120 60 255,2927 8,239,1344 no utr-5 TMPRSS7 NM_001042575.2 34,453,1796 TT,TC,CC 8.0138,19.2197,11.4104 111760773 521,4045 692 1591 2283 SO:0001583 missense BN000125 CCDS43129.2 3q13.2 2010-04-13 2004-03-16 ENSG00000176040 ENSG00000176040 344805 Serine peptidases / Transmembrane 30846 protein-coding gene gene with protein product type II transmembrane serine protease 7 NA 12838346 Standard XM_293599 NM_001042575 NA Approved uc010hqb.2 Q7RTY8 OTTHUMG00000157148 ENST00000452346.2:c.305C>T chr3.hg19:g.111760773C>T ENSP00000398236:p.Thr102Ile NA C9J8P7|E9PAS3|Q17RH4 hg19 0.02 19.786105 AAAxAGA COVERED 262 0.11996336996336997 108 0.21951219512195122 34 0.09392265193370165 51 0.08916083916083917 69 0.09102902374670185 C 14.08 2.428152 0.43122 0.192197 0.080138 ENSG00000176040 ENST00000452346;ENST00000443106;ENST00000437906 T 0.32515 1.45 5.55 5.55 0.83447 . . . . . T 0.00039 0.0001 . . . 0.09310 P 1.0 . . . . . . T 0.00162 -1.1971 5 0.54805 T 0.06 . 16.4227 0.83772 0.0:1.0:0.0:0.0 rs11929695;rs58275108 . . . I 102;89;89 ENSP00000398236:T102I ENSP00000411595:T89I T + 2 0 TMPRSS7 113243463 1.000000 0.71417 1.000000 0.80357 0.863000 0.49368 3.308000 0.51896 2.622000 0.88805 0.557000 0.71058 ACA NOVEL TMPRSS7-003 NOVEL NAGNAG_splice_site|not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000347592.2 2 29.194367 KEEP 0 0 0 97 3477 CC 1 1 0 + 14 60 526 0 0 31.96696 454 60 17295 713 ENST00000452346.2 0.029915 1 C3orf52 79669 __UNKNOWN__ __UNKNOWN__ 3 111812290 111812290 __UNKNOWN__ Silent SNP C C T rs181902188 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:111812290C>T ENST00000264848.5 + 2 281 c.222C>T c.(220-222)ttC>ttT p.F74F C3orf52_ENST00000431717.2_Silent_p.F74F|C3orf52_ENST00000430855.1_Silent_p.F74F NM_024616.2 NP_078892 Q5BVD1 TTMP_HUMAN chromosome 3 open reading frame 52 74 NA endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1) 4 CCTCCATTTTCCTAGGTGTCA 0.408 NA C||| 32 0.00638978 0.0 0.0 5008 , , NA 20707 0.0317 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 C , 1,3797 0,1,1898 201 195 197 222,222 0.8 0 3 197 0,8270 0,0,4135 no coding-synonymous,coding-synonymous C3orf52 NM_001171747.1,NM_024616.2 , 0,1,6033 TT,TC,CC 0.0,0.0263,0.0083 , 74/251,74/218 111812290 1,12067 1899 4135 6034 SO:0001819 synonymous_variant AY830714 CCDS46887.1, CCDS54620.1 3q13.2 2006-01-30 ENSG00000114529 ENSG00000114529 79669 26255 protein-coding gene gene with protein product TPA induced trans-membrane protein 611956 NA 15737651 Standard NM_024616 NM_024616 NA Approved FLJ23186, TTMP uc011bhs.2 Q5BVD1 OTTHUMG00000159230 ENST00000264848.5:c.222C>T chr3.hg19:g.111812290C>T NA B4DNV2|B4E0Z2|Q96AJ4|Q9H5Q1 hg19 CCDS46887.1 0.02 6.179316 TTTxCTA COVERED 11 0.005036630036630037 0 0.0 0 0.0 11 0.019230769230769232 0 0.0 C 0.016 -1.535867 0.00942 2.63E-4 0.0 ENSG00000114529 ENST00000484828 . . . 4.68 0.77 0.18497 . . . . . T 0.17408 0.0418 . . . 0.22330 N 0.999192 . . . . . . T 0.19257 -1.0311 4 . . . -8.9487 6.602 0.22705 0.0:0.5782:0.0:0.4218 . . . . S 65 . . P + 1 0 C3orf52 113294980 0.369000 0.25039 0.023000 0.16930 0.015000 0.08874 0.509000 0.22707 0.125000 0.18397 -0.355000 0.07637 CCT NOVEL C3orf52-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000353961.1 0 8.728075 KEEP 0 0 0 29 1005 CC 0.999997 0.999997 0 + 6 60 221 0 0 13.372871 186 60 6801 254 ENST00000264848.5 0.03125 1 CD200 4345 __UNKNOWN__ __UNKNOWN__ 3 112063850 112063850 __UNKNOWN__ Missense_Mutation SNP C C A rs2272022 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:112063850C>A ENST00000315711.8 + 3 193 c.136C>A c.(136-138)Cct>Act p.P46T CD200_ENST00000383681.3_De_novo_Start_OutOfFrame|CD200_ENST00000473539.1_Missense_Mutation_p.P71T NM_005944.5 NP_005935.4 P41217 OX2G_HUMAN CD200 molecule 46 Ig-like V-type. NA P -> T (in dbSNP:rs2272022). {ECO:0000269|PubMed:3032785}. regulation of immune response (GO:0050776) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 16 Acute lymphoblastic leukemia(4;1.7e-08)|all_hematologic(4;8.82e-05) GCTGTACACACCTGCTTCCTT 0.413 NA C||| 1014 0.202476 0.1188 0.2709 5008 , , NA 19654 0.1359 NA 0.3907 False NA ,,, NA NA NA 2504 0.1421 NA NA NA NA 0 C THR/PRO,THR/PRO 626,3780 268.3+/-268.4 44,538,1621 66 62 64 211,136 4.2 1 3 dbSNP_100 64 3141,5459 473.7+/-368.7 553,2035,1712 yes missense,missense CD200 NM_001004196.2,NM_005944.5 38,38 597,2573,3333 AA,AC,CC 36.5233,14.2079,28.9636 benign,benign 71/295,46/270 112063850 3767,9239 2203 4300 6503 SO:0001583 missense CCDS2965.1, CCDS33818.1 3q13.2 2013-09-20 2006-03-28 2004-09-01 ENSG00000091972 ENSG00000091972 4345 CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 7203 protein-coding gene gene with protein product 155970 antigen identified by monoclonal antibody MRC OX-2, CD200 antigen MOX1, MOX2 NA Standard XM_005247482 NA Approved MRC, OX-2 uc003dyw.3 P41217 OTTHUMG00000159248 ENST00000315711.8:c.136C>A chr3.hg19:g.112063850C>A ENSP00000312766:p.Pro46Thr NA B3KQI1|B4DLW9|D3DN65|Q6J2Q6|Q6PIQ4|Q8TB85|Q9H3J3 hg19 CCDS2965.1 0.02 14.595652 ACAxCTG COVERED 517 0.2367216117216117 60 0.12195121951219512 94 0.2596685082872928 65 0.11363636363636363 298 0.39313984168865435 C 4.367 0.067615 0.08436 0.142079 0.365233 ENSG00000091972 ENST00000315711;ENST00000473539 T;T 0.24908 1.83;1.83 6.02 4.19 0.49359 . 0.219660 0.32736 N 0.005710 T 0.00012 0.0000 N 0.16478 0.41 0.09310 P 0.9999999999999996 P;B 0.35628 0.513;0.015 B;B 0.32533 0.147;0.023 T 0.42799 -0.9430 9 0.09338 T 0.73 -4.9917 7.3101 0.26469 0.1736:0.7413:0.0:0.085 rs2272022;rs52832861;rs57361377;rs2272022 46;71 P41217-2;P41217-3 .;. T 46;71 ENSP00000312766:P46T;ENSP00000420298:P71T ENSP00000312766:P46T P + 1 0 CD200 113546540 0.599000 0.26891 0.994000 0.49952 0.260000 0.26232 0.953000 0.29162 0.831000 0.34780 0.655000 0.94253 CCT NOVEL CD200-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000354078.1 3 25.847345 KEEP 0 0 0 86 2984 CC 1 1 0 + 16 60 577 0 0 36.390324 372 60 13714 614 ENST00000315711.8 0.041237 1 ATG3 64422 __UNKNOWN__ __UNKNOWN__ 3 112251775 112251775 __UNKNOWN__ Intron SNP C C T rs9855848 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:112251775C>T ENST00000283290.5 - 12 1298 ATG3_ENST00000402314.2_3'UTR NM_022488.3 NP_071933.2 Q9NT62 ATG3_HUMAN autophagy related 3 NA NA autophagic vacuole assembly (GO:0000045)|cellular protein modification process (GO:0006464)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)|protein targeting to membrane (GO:0006612)|protein ubiquitination (GO:0016567)|regulation of cilium assembly (GO:1902017) cytoplasmic ubiquitin ligase complex (GO:0000153)|cytosol (GO:0005829) Atg12 ligase activity (GO:0019777)|Atg8 ligase activity (GO:0019776)|enzyme binding (GO:0019899)|small conjugating protein ligase activity (GO:0019787) breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(3) 9 TTCAACTATGCAAATTTGTGT 0.289 NA C||| 1367 0.272963 0.0333 0.3069 5008 , , NA 16346 0.5456 NA 0.3171 False NA ,,, NA NA NA 2504 0.2464 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS2966.1, CCDS63721.1 3q13.2 2014-02-12 2012-06-06 2005-09-11 ENSG00000144848 ENSG00000144848 64422 20962 protein-coding gene gene with protein product 609606 APG3 autophagy 3-like (S. cerevisiae), ATG3 autophagy related 3 homolog (S. cerevisiae) APG3L NA 11825910 Standard NM_022488 NM_022488 NA Approved PC3-96, FLJ22125, MGC15201, DKFZp564M1178 uc003dzd.3 Q9NT62 OTTHUMG00000159260 ENST00000283290.5:c.864-148G>A chr3.hg19:g.112251775C>T NA Q6PKC5|Q9H6L9 hg19 CCDS2966.1 0.02 3.750772 ATGxAAA COVERED NOVEL ATG3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000354147.1 1 2.741136 KEEP 0 1 22 17 598 CC 0.999859 0.999857 0 - 5 60 176 0 0 11.01971 112 60 4148 152 ENST00000283290.5 0.042735 0.999998 ATG3 64422 __UNKNOWN__ __UNKNOWN__ 3 112252532 112252532 __UNKNOWN__ Intron SNP A A G rs3732817 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:112252532A>G ENST00000283290.5 - 11 1298 ATG3_ENST00000402314.2_3'UTR NM_022488.3 NP_071933.2 Q9NT62 ATG3_HUMAN autophagy related 3 NA NA autophagic vacuole assembly (GO:0000045)|cellular protein modification process (GO:0006464)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)|protein targeting to membrane (GO:0006612)|protein ubiquitination (GO:0016567)|regulation of cilium assembly (GO:1902017) cytoplasmic ubiquitin ligase complex (GO:0000153)|cytosol (GO:0005829) Atg12 ligase activity (GO:0019777)|Atg8 ligase activity (GO:0019776)|enzyme binding (GO:0019899)|small conjugating protein ligase activity (GO:0019787) breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(3) 9 TGCTATGAGTACATGTACTTT 0.328 NA A||| 1369 0.273363 0.0333 0.3069 5008 , , NA 20364 0.5476 NA 0.3171 False NA ,,, NA NA NA 2504 0.2464 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS2966.1, CCDS63721.1 3q13.2 2014-02-12 2012-06-06 2005-09-11 ENSG00000144848 ENSG00000144848 64422 20962 protein-coding gene gene with protein product 609606 APG3 autophagy 3-like (S. cerevisiae), ATG3 autophagy related 3 homolog (S. cerevisiae) APG3L NA 11825910 Standard NM_022488 NM_022488 NA Approved PC3-96, FLJ22125, MGC15201, DKFZp564M1178 uc003dzd.3 Q9NT62 OTTHUMG00000159260 ENST00000283290.5:c.863+583T>C chr3.hg19:g.112252532A>G NA Q6PKC5|Q9H6L9 hg19 CCDS2966.1 0.02 11.466146 AGTxCAT COVERED NOVEL ATG3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000354147.1 5 9.627052 KEEP 0 0 0 32 965 AA 0.999997 0.999997 0 - 11 60 415 0 0 26.989614 248 60 8762 317 ENST00000283290.5 0.042471 1 CD200R1L 344807 __UNKNOWN__ __UNKNOWN__ 3 112564605 112564605 __UNKNOWN__ 5'UTR SNP A A G rs61674636 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:112564605A>G ENST00000488794.1 - 0 424 CD200R1L_ENST00000398214.1_5'UTR|CD200R1L_ENST00000448932.1_5'UTR Q6Q8B3 MO2R2_HUMAN CD200 receptor 1-like NA NA integral component of membrane (GO:0016021) breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2) 19 GTGGTTTTCTACTTAAACATA 0.358 NA A||| 229 0.0457268 0.0008 0.0043 5008 , , NA 20390 0.1954 NA 0.007 False NA ,,, NA NA NA 2504 0.0215 NA NA NA NA 0 A , 18,3660 0,18,1821 114 104 107 , 0.2 0 3 dbSNP_129 107 54,8136 1,52,4042 no utr-5,utr-5 CD200R1L NM_001008784.2,NM_001199215.1 , 1,70,5863 GG,GA,AA 0.6593,0.4894,0.6067 , , 112564605 72,11796 1839 4095 5934 SO:0001623 5_prime_UTR_variant AY284976 CCDS43131.1, CCDS56267.1 3q13.2 2014-05-15 2008-10-08 ENSG00000206531 ENSG00000206531 344807 Immunoglobulin superfamily / C2-set domain containing 24665 protein-coding gene gene with protein product CD200 receptor 2 NA Standard NM_001008784 NM_001008784 NA Approved CD200RLa, CD200R2 uc003dzi.1 Q6Q8B3 OTTHUMG00000159283 ENST00000488794.1:c.-166T>C chr3.hg19:g.112564605A>G NA Q6WHB7 hg19 CCDS56267.1 0.02 19.638954 TCTxCTT COVERED NOVEL CD200R1L-002 PUTATIVE alternative_5_UTR|basic|appris_candidate|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000354366.2 1 11.997601 KEEP 0 0 0 40 1205 AA 1 1 0 - 14 60 497 0 0 29.548342 448 60 16067 606 ENST00000488794.1 0.030303 1 CD200R1 131450 __UNKNOWN__ __UNKNOWN__ 3 112640100 112640100 __UNKNOWN__ 3'UTR SNP T T C rs59093025 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:112640100T>C ENST00000471858.1 - 0 3634 NM_170780.2 NP_740750.1 Q8TD46 MO2R1_HUMAN CD200 receptor 1 NA NA regulation of immune response (GO:0050776)|viral process (GO:0016032) extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 26 gctgatggtttcacagatgta 0.318 NA T||| 360 0.071885 0.0015 0.0101 5008 , , NA 16628 0.2282 NA 0.0258 False NA ,,, NA NA NA 2504 0.0971 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK126349 CCDS2969.1, CCDS2970.1, CCDS46889.1, CCDS54623.1 3q13 2014-05-15 2004-08-31 2004-09-01 ENSG00000163606 ENSG00000163606 131450 Immunoglobulin superfamily / C2-set domain containing 24235 protein-coding gene gene with protein product 607546 MOX2 receptor MOX2R NA 10981966, 11133863 Standard NM_138806 NM_138806 NA Approved OX2R, HCRTR2, CD200R uc003dzj.1 Q8TD46 OTTHUMG00000159298 ENST00000471858.1:c.*2424A>G chr3.hg19:g.112640100T>C NA B3KWZ9|E9PCM9|Q52LJ7|Q6IS95|Q6UW94|Q6WHB8|Q8TD44|Q8TD45|Q8TD52 hg19 CCDS2970.1 0.02 11.678408 GTTxCAC COVERED NOVEL CD200R1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000354467.1 0 10.231872 KEEP 0 0 0 34 1106 TT 0.999998 0.999998 0 - 12 60 451 1 0 29.534761 257 60 9216 355 ENST00000471858.1 0.04461 1 CD200R1 131450 __UNKNOWN__ __UNKNOWN__ 3 112640286 112640286 __UNKNOWN__ 3'UTR SNP T T G rs57576390 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:112640286T>G ENST00000471858.1 - 0 3448 NM_170780.2 NP_740750.1 Q8TD46 MO2R1_HUMAN CD200 receptor 1 NA NA regulation of immune response (GO:0050776)|viral process (GO:0016032) extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 26 ATTAGAGATATTgaaagagag 0.328 NA T||| 360 0.071885 0.0015 0.0101 5008 , , NA 16968 0.2282 NA 0.0258 False NA ,,, NA NA NA 2504 0.0971 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK126349 CCDS2969.1, CCDS2970.1, CCDS46889.1, CCDS54623.1 3q13 2014-05-15 2004-08-31 2004-09-01 ENSG00000163606 ENSG00000163606 131450 Immunoglobulin superfamily / C2-set domain containing 24235 protein-coding gene gene with protein product 607546 MOX2 receptor MOX2R NA 10981966, 11133863 Standard NM_138806 NM_138806 NA Approved OX2R, HCRTR2, CD200R uc003dzj.1 Q8TD46 OTTHUMG00000159298 ENST00000471858.1:c.*2238A>C chr3.hg19:g.112640286T>G NA B3KWZ9|E9PCM9|Q52LJ7|Q6IS95|Q6UW94|Q6WHB8|Q8TD44|Q8TD45|Q8TD52 hg19 CCDS2970.1 0.02 8.261027 ATAxTGA COVERED NOVEL CD200R1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000354467.1 1 6.317764 KEEP 0 0 0 21 665 TT 0.999869 0.999869 0 - 11 60 378 0 0 24.125093 216 60 7854 298 ENST00000471858.1 0.048458 1 CD200R1 131450 __UNKNOWN__ __UNKNOWN__ 3 112642572 112642572 __UNKNOWN__ Silent SNP T T C rs79556290 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:112642572T>C ENST00000471858.1 - 7 1162 c.930A>G c.(928-930)gcA>gcG p.A310A CD200R1_ENST00000308611.3_Silent_p.A333A|CD200R1_ENST00000295863.4_3'UTR NM_170780.2 NP_740750.1 Q8TD46 MO2R1_HUMAN CD200 receptor 1 310 NA regulation of immune response (GO:0050776)|viral process (GO:0016032) extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 26 ATGCCTCAGATGCCTTCACCT 0.373 NA C||| 375 0.0748802 0.0189 0.0159 5008 , , NA 19261 0.2262 NA 0.0328 False NA ,,, NA NA NA 2504 0.0798 NA NA NA NA 0 C , 86,4320 817.5+/-416.3 0,86,2117 196 177 183 999,930 -10.5 0 3 dbSNP_131 183 325,8275 804.2+/-407.3 6,313,3981 no coding-synonymous,coding-synonymous CD200R1 NM_138806.3,NM_170780.2 , 6,399,6098 CC,CT,TT 3.7791,1.9519,3.1601 , 333/349,310/326 112642572 411,12595 2203 4300 6503 SO:0001819 synonymous_variant AK126349 CCDS2969.1, CCDS2970.1, CCDS46889.1, CCDS54623.1 3q13 2014-05-15 2004-08-31 2004-09-01 ENSG00000163606 ENSG00000163606 131450 Immunoglobulin superfamily / C2-set domain containing 24235 protein-coding gene gene with protein product 607546 MOX2 receptor MOX2R NA 10981966, 11133863 Standard NM_138806 NM_138806 NA Approved OX2R, HCRTR2, CD200R uc003dzj.1 Q8TD46 OTTHUMG00000159298 ENST00000471858.1:c.930A>G chr3.hg19:g.112642572T>C NA B3KWZ9|E9PCM9|Q52LJ7|Q6IS95|Q6UW94|Q6WHB8|Q8TD44|Q8TD45|Q8TD52 hg19 CCDS2970.1 0.02 14.60245 AGAxGCC COVERED NOVEL CD200R1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000354467.1 0 13.540709 KEEP 0 0 0 45 1413 TT 1 1 0 - 13 60 406 0 0 20.977063 466 60 17333 641 ENST00000471858.1 0.02714 1 C3orf17 25871 __UNKNOWN__ __UNKNOWN__ 3 112722326 112722326 __UNKNOWN__ 3'UTR SNP G G C rs7644174 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:112722326G>C ENST00000314400.5 - 0 3952 C3orf17_ENST00000383675.2_3'UTR NM_015412.3 NP_056227.2 Q6NW34 CC017_HUMAN chromosome 3 open reading frame 17 NA NA negative regulation of neuron differentiation (GO:0045665)|positive regulation of Notch signaling pathway (GO:0045747) integral component of membrane (GO:0016021)|nucleus (GO:0005634) central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1) 13 TTTGGAAAAAGTAACTGATAC 0.284 NA g||| 1050 0.209665 0.3707 0.0317 5008 , , NA 16864 0.3839 NA 0.0278 False NA ,,, NA NA NA 2504 0.1258 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL117573 CCDS33824.1 3q13.2 2009-11-06 ENSG00000163608 ENSG00000163608 25871 24496 protein-coding gene gene with protein product NA 12477932 Standard NM_015412 NR_027794 NA Approved DKFZP434F2021, NET17 uc003dzr.3 Q6NW34 OTTHUMG00000159286 ENST00000314400.5:c.*2057C>G chr3.hg19:g.112722326G>C NA D3DN69|Q68DM6|Q9H7U0|Q9UFM4 hg19 CCDS33824.1 0.02 4.168274 AAAxTAA COVERED NOVEL C3orf17-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000354405.3 2 13.242704 KEEP 0 0 0 44 1542 GG 1 1 0 - 6 60 230 0 0 14.94313 143 60 5417 228 ENST00000314400.5 0.040268 1 C3orf17 25871 __UNKNOWN__ __UNKNOWN__ 3 112724089 112724089 __UNKNOWN__ 3'UTR SNP T T C rs76312049 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:112724089T>C ENST00000314400.5 - 0 2189 C3orf17_ENST00000393857.2_3'UTR|C3orf17_ENST00000383675.2_3'UTR NM_015412.3 NP_056227.2 Q6NW34 CC017_HUMAN chromosome 3 open reading frame 17 NA NA negative regulation of neuron differentiation (GO:0045665)|positive regulation of Notch signaling pathway (GO:0045747) integral component of membrane (GO:0016021)|nucleus (GO:0005634) central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1) 13 ATTCAGTTTTTCAGAGACTTA 0.393 NA T||| 200 0.0399361 0.0008 0.0014 5008 , , NA 21351 0.1865 NA 0.002 False NA ,,, NA NA NA 2504 0.0082 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL117573 CCDS33824.1 3q13.2 2009-11-06 ENSG00000163608 ENSG00000163608 25871 24496 protein-coding gene gene with protein product NA 12477932 Standard NM_015412 NR_027794 NA Approved DKFZP434F2021, NET17 uc003dzr.3 Q6NW34 OTTHUMG00000159286 ENST00000314400.5:c.*294A>G chr3.hg19:g.112724089T>C NA D3DN69|Q68DM6|Q9H7U0|Q9UFM4 hg19 CCDS33824.1 0.02 6.533595 TTTxCAG COVERED NOVEL C3orf17-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000354405.3 2 13.539766 KEEP 0 0 0 45 1412 TT 1 1 0 - 7 60 256 0 0 16.401558 156 60 5617 234 ENST00000314400.5 0.042945 1 WDR52 0 __UNKNOWN__ __UNKNOWN__ 3 113010110 113010110 __UNKNOWN__ 3'UTR SNP T T C rs78842816 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:113010110T>C ENST00000393845.2 - 0 5925 WDR52_ENST00000308346.6_3'UTR NM_001164496.1 NP_001157968.1 NA NA breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2) 49 CAAAATATATTACAGGTGATT 0.338 NA T||| 26 0.00519169 0.0 0.0014 5008 , , NA 18357 0.0238 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant NA NA NA NA ENST00000393845.2:c.*294A>G chr3.hg19:g.113010110T>C NA hg19 CCDS54624.1 0.02 9.278689 TATxACA COVERED NOVEL WDR52-202 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding 3 22.867422 KEEP 0 0 0 76 2358 TT 1 1 0 - 11 60 417 0 0 28.404905 191 60 6857 341 ENST00000393845.2 0.054455 1 WDR52 0 __UNKNOWN__ __UNKNOWN__ 3 113015660 113015660 __UNKNOWN__ Missense_Mutation SNP G G A rs2270781 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:113015660G>A ENST00000393845.2 - 33 5216 c.5150C>T c.(5149-5151)aCg>aTg p.T1717M WDR52_ENST00000308346.6_Missense_Mutation_p.T320M NM_001164496.1 NP_001157968.1 NA NA breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2) 49 AACAGAAAGCGTTTGAAGGGC 0.438 NA G||| 1100 0.219649 0.0575 0.2435 5008 , , NA 20720 0.3998 NA 0.2107 False NA ,,, NA NA NA 2504 0.2454 NA NA NA NA 0 G MET/THR 108,1276 6,96,590 205 172 182 5150 5.6 1 3 dbSNP_100 182 598,2584 54,490,1047 yes missense WDR52 NM_001164496.1 81 60,586,1637 AA,AG,GG 18.7932,7.8035,15.4621 1717/1855 113015660 706,3860 692 1591 2283 SO:0001583 missense NA NA NA NA ENST00000393845.2:c.5150C>T chr3.hg19:g.113015660G>A ENSP00000377428:p.Thr1717Met NA hg19 CCDS54624.1 0.02 17.18795 AGCxTTT COVERED 495 0.22664835164835165 23 0.046747967479674794 75 0.20718232044198895 232 0.40559440559440557 165 0.21767810026385223 G 16.60 3.168575 0.57584 0.078035 0.187932 ENSG00000206530 ENST00000393845;ENST00000308346 T;T 0.45276 0.9;0.9 5.56 5.56 0.83823 . 0.151595 0.56097 D 0.000022 T 0.00012 0.0000 L 0.52364 1.645 0.33446 P 0.416987 P 0.52061 0.95 B 0.42245 0.381 T 0.48917 -0.8992 9 0.46703 T 0.11 -14.9958 14.7133 0.69249 0.071:0.0:0.9289:0.0 rs2270781;rs52807480;rs57387843;rs2270781 1717 Q96MT7-2 . M 1717;320 ENSP00000377428:T1717M;ENSP00000311497:T320M ENSP00000311497:T320M T - 2 0 WDR52 114498350 1.000000 0.71417 0.987000 0.45799 0.830000 0.47004 4.308000 0.59129 2.614000 0.88457 0.561000 0.74099 ACG NOVEL WDR52-202 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding 2 19.362611 KEEP 0 3 87 95 3212 GG 1 1 0 - 14 60 517 0 0 31.520092 421 60 15126 631 ENST00000393845.2 0.032184 1 WDR52 0 __UNKNOWN__ __UNKNOWN__ 3 113092197 113092197 __UNKNOWN__ Intron SNP A A G rs1463640 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:113092197A>G ENST00000295868.2 - 18 2607 WDR52_ENST00000393845.2_Intron NM_018338.3 NP_060808.2 NA NA breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2) 49 ATCCATGATGAACAAAAGCAT 0.303 NA G||| 1945 0.388379 0.3828 0.3213 5008 , , NA 16542 0.5605 NA 0.3022 False NA ,,, NA NA NA 2504 0.3548 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000295868.2:c.2444+60T>C chr3.hg19:g.113092197A>G NA hg19 CCDS2972.1 0.02 4.026927 ATGxACA COVERED NOVEL WDR52-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000354128.3 1 4.212575 KEEP 0 0 0 14 453 AA 0.995343 0.995343 0 - 5 60 182 0 0 11.36881 126 60 4485 148 ENST00000295868.2 0.038168 1 WDR52 0 __UNKNOWN__ __UNKNOWN__ 3 113125966 113125966 __UNKNOWN__ Intron SNP A A G rs73237123 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:113125966A>G ENST00000295868.2 - 8 1053 WDR52_ENST00000393845.2_Intron|WDR52-AS1_ENST00000498480.1_RNA|WDR52-AS1_ENST00000473329.1_RNA NM_018338.3 NP_060808.2 NA NA breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2) 49 AAACATTTACATATTTCATAG 0.303 NA A||| 1047 0.209065 0.0136 0.2421 5008 , , NA 18086 0.4067 NA 0.2107 False NA ,,, NA NA NA 2504 0.2444 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000295868.2:c.891-78T>C chr3.hg19:g.113125966A>G NA hg19 CCDS2972.1 0.02 3.956482 TACxTAT COVERED NOVEL WDR52-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000354128.3 0 4.512287 KEEP 0 0 0 15 441 AA 0.99649 0.99649 0 - 5 60 186 0 0 11.636949 134 60 4944 159 ENST00000295868.2 0.035971 1 WDR52 0 __UNKNOWN__ __UNKNOWN__ 3 113145006 113145006 __UNKNOWN__ Silent SNP C C T rs73239107 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:113145006C>T ENST00000295868.2 - 4 534 c.372G>A c.(370-372)ctG>ctA p.L124L WDR52_ENST00000393845.2_Silent_p.L124L|WDR52-AS1_ENST00000498480.1_RNA|WDR52-AS1_ENST00000473329.1_RNA NM_018338.3 NP_060808.2 NA NA breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2) 49 TGTTTGAATCCAGAGTCACAA 0.403 NA C||| 1050 0.209665 0.0159 0.2421 5008 , , NA 19072 0.4067 NA 0.2107 False NA ,,, NA NA NA 2504 0.2444 NA NA NA NA 0 C , 233,4173 138.8+/-174.5 5,223,1975 235 238 237 372,372 -11.7 0 3 dbSNP_130 237 1633,6967 301.3+/-305.4 155,1323,2822 no coding-synonymous,coding-synonymous WDR52 NM_001164496.1,NM_018338.3 , 160,1546,4797 TT,TC,CC 18.9884,5.2882,14.3472 , 124/1855,124/983 113145006 1866,11140 2203 4300 6503 SO:0001819 synonymous_variant NA NA NA NA ENST00000295868.2:c.372G>A chr3.hg19:g.113145006C>T NA hg19 CCDS2972.1 0.02 4.253244 ATCxAGA COVERED NOVEL WDR52-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000354128.3 1 5.251144 KEEP 0 1 33 29 981 CC 0.999997 0.999997 0 - 7 60 257 0 0 17.255357 121 60 4367 191 ENST00000295868.2 0.054687 1 WDR52 0 __UNKNOWN__ __UNKNOWN__ 3 113146130 113146130 __UNKNOWN__ Missense_Mutation SNP T T C rs386664769|rs59722850 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:113146130T>C ENST00000295868.2 - 3 319 c.157A>G c.(157-159)Aaa>Gaa p.K53E WDR52_ENST00000393845.2_Missense_Mutation_p.K53E|WDR52-AS1_ENST00000498480.1_RNA NM_018338.3 NP_060808.2 NA NA breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2) 49 CCTTCCCCTTTGGTAAATGTT 0.323 NA C||| 1365 0.272564 0.0734 0.268 5008 , , NA 18333 0.5129 NA 0.2555 False NA ,,, NA NA NA 2504 0.3149 NA NA NA NA 0 C GLU/LYS,GLU/LYS 514,3892 777.6+/-414.2 38,438,1727 161 140 147 157,157 3.5 0.5 3 dbSNP_129 147 1974,6626 722.6+/-406.4 233,1508,2559 yes missense,missense WDR52 NM_001164496.1,NM_018338.3 56,56 271,1946,4286 CC,CT,TT 22.9535,11.6659,19.1296 benign,benign 53/1855,53/983 113146130 2488,10518 2203 4300 6503 SO:0001583 missense NA NA NA NA ENST00000295868.2:c.157A>G chr3.hg19:g.113146130T>C ENSP00000295868:p.Lys53Glu NA hg19 CCDS2972.1 0.02 9.785252 CTTxGGT COVERED 600 0.27472527472527475 38 0.07723577235772358 82 0.2265193370165746 288 0.5034965034965035 192 0.2532981530343008 C 1.365 -0.587740 0.03799 0.116659 0.229535 ENSG00000206530 ENST00000393845;ENST00000295868;ENST00000473143 T;T;T 0.44482 2.98;1.07;0.92 4.43 3.53 0.40419 . . . . . T 0.00012 0.0000 N 0.01352 -0.895 0.21220 P 0.999758682 B 0.02656 0.0 B 0.01281 0.0 T 0.47182 -0.9137 8 0.02654 T 1 . 6.2418 0.20795 0.0:0.7138:0.1866:0.0996 rs59722850 53 Q96MT7 WDR52_HUMAN E 53 ENSP00000377428:K53E;ENSP00000295868:K53E;ENSP00000419671:K53E ENSP00000295868:K53E K - 1 0 WDR52 114628820 0.618000 0.27051 0.548000 0.28192 0.006000 0.05464 1.006000 0.29847 0.771000 0.33359 -0.128000 0.14901 AAA NOVEL WDR52-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000354128.3 1 10.833743 KEEP 0 0 0 36 1168 TT 0.999999 0.999999 0 - 14 60 496 0 0 33.548398 210 60 7655 300 ENST00000295868.2 0.0625 1 SPICE1 152185 __UNKNOWN__ __UNKNOWN__ 3 113233563 113233563 __UNKNOWN__ Intron SNP C C T rs2306069 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:113233563C>T ENST00000295872.4 - 1 260 NM_144718.3 NP_653319.1 Q8N0Z3 SPICE_HUMAN spindle and centriole associated protein 1 NA NA metaphase plate congression (GO:0051310)|regulation of centriole replication (GO:0046599)|spindle assembly involved in mitosis (GO:0090307) centriole (GO:0005814)|centrosome (GO:0005813)|spindle (GO:0005819) NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1) 33 cgctcccggtcccaaagcacc 0.532 NA C||| 1068 0.213259 0.0174 0.2349 5008 , , NA 17573 0.4147 NA 0.2137 False NA ,,, NA NA NA 2504 0.2546 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY099107 CCDS2973.1 3q13.2 2010-09-01 2010-09-01 2010-09-01 ENSG00000163611 ENSG00000163611 152185 25083 protein-coding gene gene with protein product spindle and centriole protein 613447 coiled-coil domain containing 52 CCDC52 NA 20736305 Standard NM_144718 NM_144718 NA Approved SPICE uc003eag.4 Q8N0Z3 OTTHUMG00000159261 ENST00000295872.4:c.0+180G>A chr3.hg19:g.113233563C>T NA D3DN72|Q8WUX6 hg19 CCDS2973.1 0.02 1.646162 GGTxCCA COVERED NOVEL SPICE1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000354177.2 0 7.752497 KEEP 0 1 32 37 1275 CC 1 0.99993 0 - 6 60 206 0 0 13.721475 90 60 3268 151 ENST00000295872.4 0.0625 0.99993 SIDT1 54847 __UNKNOWN__ __UNKNOWN__ 3 113300351 113300351 __UNKNOWN__ Intron SNP T T G rs9863703 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:113300351T>G ENST00000264852.4 + 6 1473 SIDT1_ENST00000393830.3_Intron NM_017699.2 NP_060169.2 Q9NXL6 SIDT1_HUMAN SID1 transmembrane family, member 1 NA NA dsRNA transport (GO:0033227) integral component of membrane (GO:0016021) RNA transmembrane transporter activity (GO:0051033) breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 ATAGTGTACTTACTGGGCCAG 0.468 NA G||| 1987 0.396765 0.3873 0.2824 5008 , , NA 23363 0.7044 NA 0.2753 False NA ,,, NA NA NA 2504 0.2986 NA NA NA NA 0 G 513,871 84,345,263 101 76 83 -1.3 0 3 dbSNP_119 83 771,2411 90,591,910 no intron SIDT1 NM_017699.2 174,936,1173 GG,GT,TT 24.23,37.0665,28.1209 113300351 1284,3282 692 1591 2283 SO:0001627 intron_variant AK000181 CCDS2974.1 3q13.31 2009-11-26 ENSG00000072858 ENSG00000072858 54847 25967 protein-coding gene gene with protein product 606816 NA Standard NM_017699 NM_017699 NA Approved FLJ20174, SID-1 uc003eak.3 Q9NXL6 OTTHUMG00000159299 ENST00000264852.4:c.747+60T>G chr3.hg19:g.113300351T>G NA Q17RR4 hg19 CCDS2974.1 0.02 5.165661 ACTxACT COVERED NOVEL SIDT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000317564.1 0 3.911555 KEEP 0 0 0 13 405 TT 0.994391 0.994387 0 + 8 60 314 0 0 22.608394 107 60 3783 141 ENST00000264852.4 0.069565 0.999997 SIDT1 54847 __UNKNOWN__ __UNKNOWN__ 3 113304171 113304171 __UNKNOWN__ Intron SNP G G A rs41271363 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:113304171G>A ENST00000264852.4 + 9 1727 SIDT1_ENST00000393830.3_Intron NM_017699.2 NP_060169.2 Q9NXL6 SIDT1_HUMAN SID1 transmembrane family, member 1 NA NA dsRNA transport (GO:0033227) integral component of membrane (GO:0016021) RNA transmembrane transporter activity (GO:0051033) breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 TCTGTGTAACGCTTGCagcac 0.443 NA G||| 1616 0.322684 0.2678 0.255 5008 , , NA 20049 0.5893 NA 0.2306 False NA ,,, NA NA NA 2504 0.2648 NA NA NA NA 0 G 368,1016 39,290,363 296 221 244 -3.5 0 3 dbSNP_127 244 640,2542 56,528,1007 no intron SIDT1 NM_017699.2 95,818,1370 AA,AG,GG 20.1131,26.5896,22.0762 113304171 1008,3558 692 1591 2283 SO:0001627 intron_variant AK000181 CCDS2974.1 3q13.31 2009-11-26 ENSG00000072858 ENSG00000072858 54847 25967 protein-coding gene gene with protein product 606816 NA Standard NM_017699 NM_017699 NA Approved FLJ20174, SID-1 uc003eak.3 Q9NXL6 OTTHUMG00000159299 ENST00000264852.4:c.1001+54G>A chr3.hg19:g.113304171G>A NA Q17RR4 hg19 CCDS2974.1 0.02 13.487207 AACxCTT COVERED NOVEL SIDT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000317564.1 3 3.680457 KEEP 0 2 59 33 1147 GG 0.999999 0.999999 0 + 15 60 538 0 0 35.085653 286 60 10427 383 ENST00000264852.4 0.049834 1 SIDT1 54847 __UNKNOWN__ __UNKNOWN__ 3 113323787 113323787 __UNKNOWN__ Silent SNP G G A rs3732797 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:113323787G>A ENST00000264852.4 + 14 2094 c.1368G>A c.(1366-1368)gcG>gcA p.A456A SIDT1_ENST00000463226.1_3'UTR|SIDT1_ENST00000393830.3_Silent_p.A456A NM_017699.2 NP_060169.2 Q9NXL6 SIDT1_HUMAN SID1 transmembrane family, member 1 456 NA dsRNA transport (GO:0033227) integral component of membrane (GO:0016021) RNA transmembrane transporter activity (GO:0051033) breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 TGTTTTACGCGCTGCCCGTGA 0.473 NA G||| 226 0.0451278 0.0068 0.0591 5008 , , NA 15729 0.0407 NA 0.0994 False NA ,,, NA NA NA 2504 0.0358 NA NA NA NA 0 G 61,4345 58.7+/-95.3 1,59,2143 128 119 122 1368 -6.4 1 3 dbSNP_107 122 859,7741 195.9+/-241.0 51,757,3492 no coding-synonymous SIDT1 NM_017699.2 52,816,5635 AA,AG,GG 9.9884,1.3845,7.0737 456/828 113323787 920,12086 2203 4300 6503 SO:0001819 synonymous_variant AK000181 CCDS2974.1 3q13.31 2009-11-26 ENSG00000072858 ENSG00000072858 54847 25967 protein-coding gene gene with protein product 606816 NA Standard NM_017699 NM_017699 NA Approved FLJ20174, SID-1 uc003eak.3 Q9NXL6 OTTHUMG00000159299 ENST00000264852.4:c.1368G>A chr3.hg19:g.113323787G>A NA Q17RR4 hg19 CCDS2974.1 0.02 6.056398 CGCxCTG COVERED NOVEL SIDT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000317564.1 2 8.727648 KEEP 0 0 0 29 1008 GG 0.999997 0.999997 0 + 7 60 245 0 0 15.139667 165 60 5841 250 ENST00000264852.4 0.040698 1 ZDHHC23 254887 __UNKNOWN__ __UNKNOWN__ 3 113679589 113679589 __UNKNOWN__ 3'UTR SNP C C A rs12629415 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:113679589C>A ENST00000488129.1 + 0 2658 ZDHHC23_ENST00000498275.1_3'UTR|ZDHHC23_ENST00000330212.3_3'UTR Q8IYP9 ZDH23_HUMAN zinc finger, DHHC-type containing 23 NA NA protein localization to plasma membrane (GO:0072659)|protein palmitoylation (GO:0018345) integral component of membrane (GO:0016021) protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270) NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2) 16 GAGCCAACTCCGCTTCCTTCC 0.378 NA A||| 1277 0.254992 0.2995 0.2147 5008 , , NA 20068 0.373 NA 0.171 False NA ,,, NA NA NA 2504 0.1881 NA NA NA NA 0 A 1190,3216 709.3+/-407.7 157,876,1170 125 127 126 1 0 3 dbSNP_120 126 1486,7114 748.6+/-407.3 131,1224,2945 no utr-3 ZDHHC23 NM_173570.3 288,2100,4115 AA,AC,CC 17.2791,27.0086,20.5751 113679589 2676,10330 2203 4300 6503 SO:0001624 3_prime_UTR_variant AK127025 CCDS33827.1 3q13.31 2008-05-02 ENSG00000184307 ENSG00000184307 254887 Zinc fingers, DHHC-type 28654 protein-coding gene gene with protein product NA 12477932 Standard NM_173570 NM_173570 NA Approved MGC42530 uc003eau.3 Q8IYP9 OTTHUMG00000159335 ENST00000488129.1:c.*2655C>A chr3.hg19:g.113679589C>A NA D3DN76 hg19 0.02 32.06071 CTCxGCT COVERED NOVEL ZDHHC23-004 PUTATIVE basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000354705.1 2 16.549103 KEEP 0 0 0 55 1856 CC 1 1 0 + 29 60 1080 0 0 69.385632 674 60 24328 928 ENST00000488129.1 0.041252 1 ZNF80 7634 __UNKNOWN__ __UNKNOWN__ 3 113955820 113955820 __UNKNOWN__ Silent SNP G G C rs3732780 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:113955820G>C ENST00000482457.2 - 1 605 c.102C>G c.(100-102)tcC>tcG p.S34S NM_007136.3 NP_009067.2 P51504 ZNF80_HUMAN zinc finger protein 80 34 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2) 32 Lung NSC(201;0.0233)|all_neural(597;0.0837) TTGGTCCCTGGGAGTCACATT 0.502 NA G||| 1560 0.311502 0.3593 0.2594 5008 , , NA 22578 0.375 NA 0.2734 False NA ,,, NA NA NA 2504 0.2577 NA NA NA GBM(23;986 1114 21716) NA 0 G 1512,2894 480.8+/-358.9 252,1008,943 119 112 114 102 -1.5 0 3 dbSNP_107 114 2217,6383 375.8+/-337.9 291,1635,2374 no coding-synonymous ZNF80 NM_007136.3 543,2643,3317 CC,CG,GG 25.7791,34.3168,28.6714 34/274 113955820 3729,9277 2203 4300 6503 SO:0001819 synonymous_variant X65233 CCDS2979.1 3q13.31 2013-01-08 2006-05-12 ENSG00000174255 ENSG00000174255 7634 Zinc fingers, C2H2-type 13155 protein-coding gene gene with protein product 194553 zinc finger protein 80 (pT17) NA 8478004 Standard NM_007136 NM_007136 NA Approved pT17 uc010hqo.3 P51504 OTTHUMG00000159332 ENST00000482457.2:c.102C>G chr3.hg19:g.113955820G>C NA Q6NSW4|Q6NT14 hg19 CCDS2979.1 0.02 18.902635 CTGxGAG COVERED NOVEL ZNF80-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000354696.2 0 13.543272 KEEP 0 0 0 45 1542 GG 1 1 0 - 14 60 501 0 0 29.653613 441 60 16010 567 ENST00000482457.2 0.030769 1 ZBTB20 26137 __UNKNOWN__ __UNKNOWN__ 3 114099667 114099667 __UNKNOWN__ Intron SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:114099667G>A ENST00000462705.1 - 10 614 ZBTB20_ENST00000393785.2_Intron|ZBTB20_ENST00000357258.3_Intron|ZBTB20_ENST00000471418.1_Intron|ZBTB20_ENST00000474710.1_5'UTR|ZBTB20_ENST00000464560.1_Intron|ZBTB20_ENST00000481632.1_Intron|ZBTB20-AS1_ENST00000475939.1_RNA NM_001164343.1 NP_001157815.1 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 NA NA nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078) breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) gactcgtggagtaatgggagg 0.498 NA NA NA NA NA NA NA NA NA NA NSCLC(69;748 1344 9802 11203 30933) NA 0 121 107 111 NA NA 3 NA 114099667 692 1591 2283 SO:0001627 intron_variant AF139460 CCDS2981.1, CCDS54626.1 3q13.2 2013-01-08 2004-07-16 2004-07-16 ENSG00000181722 ENSG00000181722 26137 -, Zinc fingers, C2H2-type, BTB/POZ domain containing 13503 protein-coding gene gene with protein product 606025 zinc finger protein 288 ZNF288 NA 10965110, 11352661 Standard NM_015642 XM_005247339 NA Approved ODA-8S, DKFZp566F123, DPZF uc003ebi.3 Q9HC78 OTTHUMG00000159366 ENST00000462705.1:c.208-416C>T chr3.hg19:g.114099667G>A NA Q63HP6|Q8N6R5|Q9Y410 hg19 CCDS2981.1 0.02 26.471748 GGAxTAA COVERED NOVEL ZBTB20-006 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000354954.1 5 65.314168 KEEP 0 0 0 217 7883 GG 1 1 0 - 15 60 572 0 0 33.659717 608 60 23147 1095 ENST00000462705.1 0.024077 1 LSAMP 4045 __UNKNOWN__ __UNKNOWN__ 3 117484674 117484674 __UNKNOWN__ Intron SNP A A G rs72967262 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:117484674A>G ENST00000539563.1 - 1 67 RP11-384F7.2_ENST00000484092.1_lincRNA Q13449 LSAMP_HUMAN limbic system-associated membrane protein NA NA cell adhesion (GO:0007155)|locomotory exploration behavior (GO:0035641)|nervous system development (GO:0007399) anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886) NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215) GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152) cctggctaacatggtgaaacc 0.498 NA A||| 1376 0.27476 0.2655 0.4352 5008 , , NA 13943 0.3036 NA 0.2157 False NA ,,, NA NA NA 2504 0.2045 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U41901 CCDS2982.1 3q13.2-q21 2013-01-11 ENSG00000185565 ENSG00000185565 4045 Immunoglobulin superfamily / I-set domain containing 6705 protein-coding gene gene with protein product IgLON family member 3 603241 NA 9615236 Standard NM_002338 NM_002338 NA Approved LAMP, IGLON3 uc003ebs.3 Q13449 OTTHUMG00000159308 ENST00000539563.1:c.67+231354T>C chr3.hg19:g.117484674A>G NA Q8IV49 hg19 0.02 -0.026319 AACxTGG UNCOVERED NOVEL LSAMP-201 KNOWN basic protein_coding NA protein_coding 2 2.407058 KEEP 6 0 0 8 242 AA 0 0 0 - 2 46 71 0 0 7.22478 1 40 37 16 ENST00000539563.1 0.666667 0 RP11-384F7.1 0 __UNKNOWN__ __UNKNOWN__ 3 118094992 118094992 __UNKNOWN__ lincRNA SNP A A C rs491064 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:118094992A>C ENST00000482142.1 - 0 232 NA NA NA ttgagcattcatgaattttgg 0.358 NA A||| 1053 0.210264 0.2035 0.2493 5008 , , NA 18059 0.3244 NA 0.168 False NA ,,, NA NA NA 2504 0.1176 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000482142.1: chr3.hg19:g.118094992A>C NA hg19 0.02 -0.280749 TTCxTGA COVERED NOVEL RP11-384F7.1-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000354813.3 0 2.708626 KEEP 0 0 0 9 299 AA 0.99254 0.734154 0 - 3 60 122 0 0 9.307849 29 60 1099 54 ENST00000482142.1 0.09375 0.739671 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 118381320 118381320 __UNKNOWN__ IGR SNP C C A rs28380350 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:118381320C>A NA NA RP11-384F7.1 (104805 upstream) : IGSF11 (238083 downstream) NA NA NA tcacacaaggcaggaatgaag 0.448 NA C||| 2427 0.484625 0.5946 0.4323 5008 , , NA 20587 0.5813 NA 0.3787 False NA ,,, NA NA NA 2504 0.3824 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.118381320C>A NA hg19 0.02 11.267045 AGGxAGG COVERED NOVEL 0 3 10.835757 KEEP 0 0 0 36 1308 CC 0.999999 0.999999 0 15 60 558 0 0 37.522755 267 60 10023 382 0.053191 1 RP11-484M3.5 0 __UNKNOWN__ __UNKNOWN__ 3 118878874 118878874 __UNKNOWN__ Intron SNP A A G rs79524814 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:118878874A>G ENST00000490594.1 + 1 213 NA NA NA TTGAATAGACATTAGTGGTGA 0.279 NA A||| 269 0.0537141 0.0053 0.0504 5008 , , NA 16065 0.1637 NA 0.0119 False NA ,,, NA NA NA 2504 0.0511 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000490594.1:c.213+12440A>G chr3.hg19:g.118878874A>G NA hg19 0.02 9.253609 GACxTTA COVERED NOVEL RP11-484M3.5-001 PUTATIVE mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal|readthrough_transcript protein_coding NA protein_coding OTTHUMT00000359268.1 0 8.72651 KEEP 0 0 0 29 916 AA 0.999997 0.999997 0 + 14 60 531 0 0 36.635639 225 60 8284 330 ENST00000490594.1 0.058577 1 B4GALT4 8702 __UNKNOWN__ __UNKNOWN__ 3 118933068 118933068 __UNKNOWN__ Intron SNP A A G rs9836230 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:118933068A>G ENST00000483209.1 - 8 1544 B4GALT4_ENST00000471675.1_Intron|B4GALT4_ENST00000467604.1_3'UTR|B4GALT4_ENST00000359213.3_Intron|B4GALT4_ENST00000393765.2_Intron O60513 B4GT4_HUMAN UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4 NA NA carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|membrane lipid metabolic process (GO:0006643)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281) Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021) galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945) breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2) 14 GBM - Glioblastoma multiforme(114;0.222) N-Acetyl-D-glucosamine(DB00141) accctgcctcagaaaaaaata 0.433 NA G||| 597 0.119209 0.0446 0.0735 5008 , , NA 18725 0.2569 NA 0.1054 False NA ,,, NA NA NA 2504 0.1247 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF022367 CCDS2986.1 3q13.3 2013-02-19 ENSG00000121578 ENSG00000121578 8702 Beta 4-glycosyltransferases 927 protein-coding gene gene with protein product 604015 NA 9597550 Standard NM_003778 NM_003778 NA Approved beta4Gal-T4 uc003eci.3 O60513 OTTHUMG00000159358 ENST00000483209.1:c.903-1540T>C chr3.hg19:g.118933068A>G NA Q68D68|Q9BSW3|Q9C078 hg19 CCDS2986.1 0.02 -0.315813 CTCxGAA COVERED NOVEL B4GALT4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000354925.2 2 5.115103 KEEP 0 0 0 17 529 AA 0.999366 0.817946 0 - 3 60 106 0 0 7.548274 33 60 1222 62 ENST00000483209.1 0.083333 0.818465 B4GALT4 8702 __UNKNOWN__ __UNKNOWN__ 3 118945796 118945796 __UNKNOWN__ Missense_Mutation SNP G G C rs3764779 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:118945796G>C ENST00000483209.1 - 4 987 c.346C>G c.(346-348)Cag>Gag p.Q116E B4GALT4-AS1_ENST00000470790.1_RNA|B4GALT4_ENST00000460321.1_5'UTR|B4GALT4_ENST00000471675.1_Intron|B4GALT4_ENST00000467604.1_Missense_Mutation_p.Q116E|B4GALT4_ENST00000359213.3_Missense_Mutation_p.Q116E|B4GALT4_ENST00000393765.2_Missense_Mutation_p.Q116E O60513 B4GT4_HUMAN UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4 116 NA Q -> E (in dbSNP:rs3764779). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005, ECO:0000269|Ref.4}. carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|membrane lipid metabolic process (GO:0006643)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281) Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021) galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945) p.Q116E(1) breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2) 14 GBM - Glioblastoma multiforme(114;0.222) N-Acetyl-D-glucosamine(DB00141) TTACATTCCTGAGGGCGATAC 0.512 NA C||| 1487 0.296925 0.3064 0.353 5008 , , NA 20833 0.3333 NA 0.1978 False NA ,,, NA NA NA 2504 0.3088 NA NA NA NA 1 Substitution - Missense(1) stomach(1) C GLU/GLN,GLU/GLN 1409,2997 687.5+/-404.9 214,981,1008 124 110 115 346,346 5.1 0.6 3 dbSNP_107 115 2123,6477 715.3+/-406.0 247,1629,2424 yes missense,missense B4GALT4 NM_003778.3,NM_212543.1 29,29 461,2610,3432 CC,CG,GG 24.686,31.9791,27.1567 benign,benign 116/345,116/345 118945796 3532,9474 2203 4300 6503 SO:0001583 missense AF022367 CCDS2986.1 3q13.3 2013-02-19 ENSG00000121578 ENSG00000121578 8702 Beta 4-glycosyltransferases 927 protein-coding gene gene with protein product 604015 NA 9597550 Standard NM_003778 NM_003778 NA Approved beta4Gal-T4 uc003eci.3 O60513 OTTHUMG00000159358 ENST00000483209.1:c.346C>G chr3.hg19:g.118945796G>C ENSP00000420161:p.Gln116Glu NA Q68D68|Q9BSW3|Q9C078 hg19 CCDS2986.1 0.02 25.739988 CCTxAGG COVERED 612 0.2802197802197802 147 0.29878048780487804 120 0.3314917127071823 194 0.33916083916083917 151 0.19920844327176782 C 0.008 -1.883719 0.00532 0.319791 0.24686 ENSG00000121578 ENST00000483209;ENST00000467604;ENST00000359213;ENST00000393765;ENST00000475803;ENST00000479150 T;T;T;T;T;T 0.38887 2.05;2.05;2.05;2.05;2.05;1.11 6.02 5.1 0.69264 . 0.263318 0.44285 N 0.000479 T 0.00012 0.0000 N 0.00252 -1.77 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.33111 -0.9881 9 0.02654 T 1 -21.8622 10.8754 0.46909 0.0:0.6856:0.2468:0.0676 rs3764779;rs17845026;rs17857795;rs17859691;rs52792113;rs60499237;rs3764779 116 O60513 B4GT4_HUMAN E 116 ENSP00000420161:Q116E;ENSP00000417226:Q116E;ENSP00000352144:Q116E;ENSP00000377360:Q116E;ENSP00000417188:Q116E;ENSP00000417958:Q116E ENSP00000352144:Q116E Q - 1 0 B4GALT4 120428486 0.000000 0.05858 0.644000 0.29465 0.010000 0.07245 -0.256000 0.08757 1.578000 0.49821 -0.120000 0.15030 CAG NOVEL B4GALT4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000354925.2 2 30.398646 KEEP 0 0 0 101 3573 GG 1 1 0 - 20 60 763 0 0 48.014297 564 60 21676 825 ENST00000483209.1 0.034247 1 TMEM39A 55254 __UNKNOWN__ __UNKNOWN__ 3 119156726 119156726 __UNKNOWN__ Missense_Mutation SNP G G C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:119156726G>C ENST00000319172.5 - 6 1220 c.800C>G c.(799-801)cCa>cGa p.P267R NM_018266.1 NP_060736.1 Q9NV64 TM39A_HUMAN transmembrane protein 39A 267 NA integral component of membrane (GO:0016021) NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1) 13 GBM - Glioblastoma multiforme(114;0.244) AATGAGGTCTGGAGATAGGGG 0.453 NA NA NA NA NA NA NA NA NA NA NA 0 103 96 98 NA NA 3 NA 119156726 2203 4300 6503 SO:0001583 missense BC021277 CCDS2987.1 3q13.33 2005-01-10 ENSG00000176142 ENSG00000176142 55254 25600 protein-coding gene gene with protein product NA 12477932 Standard NM_018266 NM_018266 NA Approved FLJ10902 uc003eck.2 Q9NV64 OTTHUMG00000159361 ENST00000319172.5:c.800C>G chr3.hg19:g.119156726G>C ENSP00000326063:p.Pro267Arg NA D3DN80|Q53FN4|Q53GI1|Q6PKB5 hg19 CCDS2987.1 0.02 20.310772 TCTxGAG COVERED . . . . . . . . . . G 19.81 3.897305 0.72639 . . ENSG00000176142 ENST00000319172;ENST00000491685 T 0.60171 0.21 5.5 5.5 0.81552 . 0.000000 0.85682 D 0.000000 T 0.77123 0.4084 M 0.76170 2.325 0.80722 D 1 D 0.89917 1.0 D 0.91635 0.999 T 0.79420 -0.1811 10 0.87932 D 0 -8.7144 18.3899 0.90479 0.0:0.0:1.0:0.0 . 267 Q9NV64 TM39A_HUMAN R 267;113 ENSP00000326063:P267R ENSP00000326063:P267R P - 2 0 TMEM39A 120639416 1.000000 0.71417 1.000000 0.80357 0.987000 0.75469 9.476000 0.97823 2.584000 0.87258 0.650000 0.86243 CCA NOVEL TMEM39A-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000354941.3 2 24.077037 KEEP 0 0 0 80 2766 GG 1 1 0 - 18 60 659 0 0 41.423996 447 60 16741 647 ENST00000319172.5 0.03871 1 ADPRH 141 __UNKNOWN__ __UNKNOWN__ 3 119301139 119301139 __UNKNOWN__ Silent SNP C C T rs20568 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:119301139C>T ENST00000478399.1 + 2 1528 c.123C>T c.(121-123)ggC>ggT p.G41G ADPRH_ENST00000478927.1_Silent_p.G41G|ADPRH_ENST00000357003.3_Silent_p.G41G|ADPRH_ENST00000471850.1_Intron|ADPRH_ENST00000465513.1_Silent_p.G41G P54922 ADPRH_HUMAN ADP-ribosylarginine hydrolase 41 NA cellular protein modification process (GO:0006464)|protein de-ADP-ribosylation (GO:0051725) ADP-ribosylarginine hydrolase activity (GO:0003875)|magnesium ion binding (GO:0000287) breast(1)|kidney(1)|lung(10)|ovary(1) 13 Lung NSC(201;0.0977) GBM - Glioblastoma multiforme(114;0.23) CCCAGCTGGGCGGCTTGGATG 0.582 NA C||| 733 0.146366 0.1271 0.0476 5008 , , NA 18431 0.2579 NA 0.0577 False NA ,,, NA NA NA 2504 0.2188 NA NA NA GBM(133;579 1804 5989 9967 40052) NA 0 C 411,3995 203.5+/-225.9 15,381,1807 81 79 80 123 -11.8 0 3 dbSNP_67 80 538,8062 149.4+/-204.5 13,512,3775 no coding-synonymous ADPRH NM_001125.2 28,893,5582 TT,TC,CC 6.2558,9.3282,7.2966 41/358 119301139 949,12057 2203 4300 6503 SO:0001819 synonymous_variant L13291 CCDS2990.1 3q13.31-q13.33 2004-02-27 ENSG00000144843 ENSG00000144843 141 269 protein-coding gene gene with protein product 603081 NA 8349667, 12070318 Standard NM_001125 NM_001125 NA Approved ARH1 uc003ecs.3 P54922 OTTHUMG00000159420 ENST00000478399.1:c.123C>T chr3.hg19:g.119301139C>T NA B2R8H1|D3DN83 hg19 CCDS2990.1 0.02 11.904319 GGGxGGC COVERED NOVEL ADPRH-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000355199.1 1 7.288876 KEEP 0 3 84 54 1800 CC 1 1 0 + 10 60 344 0 0 19.560938 335 60 11414 479 ENST00000478399.1 0.028986 1 NR1I2 8856 __UNKNOWN__ __UNKNOWN__ 3 119501506 119501506 __UNKNOWN__ Intron SNP T T G rs3814056 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:119501506T>G ENST00000393716.2 + 1 1817 NR1I2_ENST00000466380.1_Intron NM_003889.3 NP_003880 O75469 NR1I2_HUMAN nuclear receptor subfamily 1, group I, member 2 NA NA drug export (GO:0046618)|exogenous drug catabolic process (GO:0042738)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|steroid metabolic process (GO:0008202)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)|xenobiotic transport (GO:0042908) nucleoplasm (GO:0005654) drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270) breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3) 23 GBM - Glioblastoma multiforme(114;0.175) Docetaxel(DB01248)|Erlotinib(DB00530)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Paclitaxel(DB01229)|Rifampicin(DB01045)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Vitamin E(DB00163) CCAAGGACTGTGGGAGCTGGG 0.552 NA T||| 279 0.0557109 0.0023 0.0029 5008 , , NA 20455 0.1696 NA 0.007 False NA ,,, NA NA NA 2504 0.0982 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF061056 CCDS2995.1, CCDS43136.1, CCDS54627.1 3q12-q13.3 2013-03-25 ENSG00000144852 ENSG00000144852 8856 Nuclear hormone receptors 7968 protein-coding gene gene with protein product pregnane X receptor, orphan nuclear receptor PXR 603065 NA 9727070, 9770465 Standard NM_003889 NA Approved ONR1, PXR, BXR, SXR, PAR2 uc003edk.3 O75469 OTTHUMG00000159400 ENST00000393716.2:c.-23+359T>G chr3.hg19:g.119501506T>G NA Q006P5|Q008C8|Q96AC7|Q9UJ22|Q9UJ23|Q9UJ24|Q9UJ25|Q9UJ26|Q9UJ27|Q9UNW4 hg19 CCDS43136.1 0.02 6.816327 CTGxGGG COVERED NOVEL NR1I2-002 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000355127.1 1 7.818678 KEEP 0 0 0 26 752 TT 0.999957 0.999957 0 + 9 60 329 0 0 22.031413 156 60 5404 217 ENST00000393716.2 0.054545 1 LRRC58 116064 __UNKNOWN__ __UNKNOWN__ 3 120048615 120048615 __UNKNOWN__ 3'UTR SNP T T C rs6800402 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:120048615T>C ENST00000295628.3 - 0 2643 NM_001099678.1 NP_001093148.1 Q96CX6 LRC58_HUMAN leucine rich repeat containing 58 NA NA large_intestine(2)|lung(5) 7 GBM - Glioblastoma multiforme(114;0.147) tttcttactgtaggtttaaca 0.308 NA T||| 1644 0.328275 0.3729 0.0994 5008 , , NA 12984 0.6766 NA 0.1054 False NA ,,, NA NA NA 2504 0.3006 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC013757 CCDS46892.1 3q13.33 2006-01-06 ENSG00000163428 ENSG00000163428 116064 26968 protein-coding gene gene with protein product NA Standard XM_057296 NM_001099678 NA Approved uc003edr.2 Q96CX6 OTTHUMG00000159407 ENST00000295628.3:c.*1432A>G chr3.hg19:g.120048615T>C NA hg19 CCDS46892.1 0.02 4.672943 CTGxAGG COVERED NOVEL LRRC58-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000355142.1 0 7.82363 KEEP 0 0 0 26 823 TT 0.999957 0.999957 0 - 6 60 237 0 0 15.865685 131 60 4711 194 ENST00000295628.3 0.043796 1 STXBP5L 9515 __UNKNOWN__ __UNKNOWN__ 3 121114789 121114789 __UNKNOWN__ Intron SNP C C T rs4369975 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:121114789C>T ENST00000273666.6 + 24 2930 STXBP5L_ENST00000497029.1_Intron|STXBP5L_ENST00000472879.1_Intron|STXBP5L_ENST00000471454.1_Intron|STXBP5L_ENST00000492541.1_Intron NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like NA NA exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157) cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) atctcttcctcggcatctggc 0.502 NA C||| 1130 0.225639 0.1392 0.0735 5008 , , NA 19184 0.4752 NA 0.1143 False NA ,,, NA NA NA 2504 0.3078 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB023223 CCDS43137.1 3q13.33-q21.1 2013-01-10 ENSG00000145087 ENSG00000145087 9515 WD repeat domain containing 30757 protein-coding gene gene with protein product 609381 NA 10231032, 14767561 Standard NM_014980 NA Approved KIAA1006, LLGL4 uc003eec.4 Q9Y2K9 OTTHUMG00000159426 ENST00000273666.6:c.2660-11301C>T chr3.hg19:g.121114789C>T NA Q4G1B4|Q6PIC3 hg19 CCDS43137.1 0.02 -0.359661 CCTxGGC COVERED NOVEL STXBP5L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000355256.3 1 6.018532 KEEP 0 0 0 20 663 CC 0.999863 0.888753 0 + 4 60 152 0 0 11.416992 37 60 1251 80 ENST00000273666.6 0.097561 0.888875 POLQ 10721 __UNKNOWN__ __UNKNOWN__ 3 121208176 121208176 __UNKNOWN__ Missense_Mutation SNP T T C rs3218651 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:121208176T>C ENST00000264233.5 - 16 3730 c.3602A>G c.(3601-3603)cAt>cGt p.H1201R NM_199420.3 NP_955452.3 O75417 DPOLQ_HUMAN polymerase (DNA directed), theta 1201 NA ATP catabolic process (GO:0006200)|DNA repair (GO:0006281) nucleoplasm (GO:0005654) ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142) NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) TGTCTGTTCATGAGATTGCTT 0.343 NA DNA polymerases (catalytic subunits) T||| 1451 0.289736 0.1203 0.2954 5008 , , NA 20581 0.5496 NA 0.1511 False NA ,,, NA NA NA 2504 0.3896 NA NA NA Pancreas(152;907 1925 26081 31236 36904) NA 0 T ARG/HIS 462,3944 218.7+/-236.7 27,408,1768 203 208 206 3602 4.2 0 3 dbSNP_106 206 1261,7339 251.4+/-277.9 106,1049,3145 yes missense POLQ NM_199420.3 29 133,1457,4913 CC,CT,TT 14.6628,10.4857,13.2477 benign 1201/2591 121208176 1723,11283 2203 4300 6503 SO:0001583 missense AF052573 CCDS33833.1 3q13.3 2012-05-18 ENSG00000051341 ENSG00000051341 10721 2.7.7.7 DNA polymerases 9186 protein-coding gene gene with protein product 604419 NA 10395804 Standard NM_199420 NM_199420 NA Approved POLH uc003eee.4 O75417 OTTHUMG00000159396 ENST00000264233.5:c.3602A>G chr3.hg19:g.121208176T>C ENSP00000264233:p.His1201Arg NA O95160|Q6VMB5 hg19 CCDS33833.1 0.02 22.876206 TCAxGAG COVERED 620 0.2838827838827839 69 0.1402439024390244 92 0.2541436464088398 331 0.5786713286713286 128 0.16886543535620052 T 3.626 -0.076630 0.07184 0.104857 0.146628 ENSG00000051341 ENST00000543272;ENST00000264233;ENST00000393672 T 0.45276 0.9 5.45 4.24 0.50183 . 0.659014 0.14910 N 0.291263 T 0.00012 0.0000 N 0.08118 0 0.80722 P 0.0 B;B 0.20780 0.048;0.001 B;B 0.15870 0.014;0.0 T 0.42155 -0.9468 9 0.15499 T 0.54 . 10.3646 0.44015 0.156:0.0:0.0:0.844 rs3218651;rs52826086;rs60671312;rs3218651 1201;373 O75417;O75417-2 DPOLQ_HUMAN;. R 824;1201;1337 ENSP00000264233:H1201R ENSP00000264233:H1201R H - 2 0 POLQ 122690866 0.000000 0.05858 0.016000 0.15963 0.038000 0.13279 -0.078000 0.11375 2.289000 0.77006 0.460000 0.39030 CAT NOVEL POLQ-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000355097.1 3 16.549632 KEEP 0 0 0 55 1713 TT 1 1 0 - 25 60 882 0 0 55.190413 566 60 20837 734 ENST00000264233.5 0.042301 1 POLQ 10721 __UNKNOWN__ __UNKNOWN__ 3 121251868 121251868 __UNKNOWN__ Missense_Mutation SNP A A C rs55748151 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:121251868A>C ENST00000264233.5 - 6 1057 c.929T>G c.(928-930)gTg>gGg p.V310G POLQ_ENST00000488282.1_5'UTR NM_199420.3 NP_955452.3 O75417 DPOLQ_HUMAN polymerase (DNA directed), theta 310 NA ATP catabolic process (GO:0006200)|DNA repair (GO:0006281) nucleoplasm (GO:0005654) ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142) p.V443G(1) NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) AAATTCCCTCACAAGTTTCAT 0.368 NA DNA polymerases (catalytic subunits) A||| 100 0.0199681 0.0 0.0216 5008 , , NA 18382 0.0754 NA 0.002 False NA ,,, NA NA NA 2504 0.0072 NA NA NA Pancreas(152;907 1925 26081 31236 36904) NA 1 Substitution - Missense(1) stomach(1) A GLY/VAL 4,4402 8.1+/-20.4 0,4,2199 70 75 73 929 5.3 1 3 dbSNP_129 73 41,8559 26.8+/-75.7 0,41,4259 yes missense POLQ NM_199420.3 109 0,45,6458 CC,CA,AA 0.4767,0.0908,0.346 probably-damaging 310/2591 121251868 45,12961 2203 4300 6503 SO:0001583 missense AF052573 CCDS33833.1 3q13.3 2012-05-18 ENSG00000051341 ENSG00000051341 10721 2.7.7.7 DNA polymerases 9186 protein-coding gene gene with protein product 604419 NA 10395804 Standard NM_199420 NM_199420 NA Approved POLH uc003eee.4 O75417 OTTHUMG00000159396 ENST00000264233.5:c.929T>G chr3.hg19:g.121251868A>C ENSP00000264233:p.Val310Gly NA O95160|Q6VMB5 hg19 CCDS33833.1 0.02 3.332725 CTCxCAA COVERED 55 0.025183150183150184 0 0.0 6 0.016574585635359115 48 0.08391608391608392 1 0.0013192612137203166 A 24.0 4.476602 0.84640 9.08E-4 0.004767 ENSG00000051341 ENST00000264233;ENST00000393672 T 0.72051 -0.62 5.29 5.29 0.74685 . 0.278885 0.33023 N 0.005369 T 0.17109 0.0411 M 0.84156 2.68 0.09310 P 0.99999999983872 P 0.36412 0.552 B 0.40636 0.335 T 0.65837 -0.6071 9 0.49607 T 0.09 . 15.5172 0.75833 1.0:0.0:0.0:0.0 rs55748151 310 O75417 DPOLQ_HUMAN G 310;445 ENSP00000264233:V310G ENSP00000264233:V310G V - 2 0 POLQ 122734558 1.000000 0.71417 1.000000 0.80357 0.855000 0.48748 8.603000 0.90871 2.126000 0.65437 0.377000 0.23210 GTG NOVEL POLQ-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000355097.1 1 3.912462 KEEP 0 0 0 13 433 AA 0.994391 0.994391 0 - 5 60 170 0 0 9.994788 137 60 4993 172 ENST00000264233.5 0.035211 1 FBXO40 51725 __UNKNOWN__ __UNKNOWN__ 3 121339520 121339520 __UNKNOWN__ Intron SNP A A C rs35295338 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:121339520A>C ENST00000338040.4 + 2 417 NM_016298.3 NP_057382.2 Q9UH90 FBX40_HUMAN F-box protein 40 NA NA muscle cell differentiation (GO:0042692) cytoplasm (GO:0005737) ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 GBM - Glioblastoma multiforme(114;0.189) ACTTGCTCTTATGGTTTGATG 0.418 NA A||| 1986 0.396565 0.2186 0.5159 5008 , , NA 18519 0.6052 NA 0.2495 False NA ,,, NA NA NA 2504 0.4888 NA NA NA NA 0 A 302,1082 41,220,431 93 76 81 -5.3 0 3 dbSNP_126 81 765,2417 86,593,912 no intron FBXO40 NM_016298.3 127,813,1343 CC,CA,AA 24.0415,21.8208,23.3684 121339520 1067,3499 692 1591 2283 SO:0001627 intron_variant AF204674 CCDS33835.1 3q21.1 2004-08-24 ENSG00000163833 ENSG00000163833 51725 F-boxes / other 29816 protein-coding gene gene with protein product 609107 NA 10574462 Standard NM_016298 NM_016298 NA Approved KIAA1195, Fbx40 uc003eeg.2 Q9UH90 OTTHUMG00000159410 ENST00000338040.4:c.3+95A>C chr3.hg19:g.121339520A>C NA B2RAX7|Q32M70|Q9ULM5 hg19 CCDS33835.1 0.02 22.087063 CTTxTGG COVERED NOVEL FBXO40-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000355158.1 4 10.531076 KEEP 0 0 0 35 1072 AA 0.999999 0.999999 0 + 30 60 1150 0 0 81.311852 425 60 15614 556 ENST00000338040.4 0.065934 1 FBXO40 51725 __UNKNOWN__ __UNKNOWN__ 3 121340536 121340536 __UNKNOWN__ Missense_Mutation SNP T T C rs4676684 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:121340536T>C ENST00000338040.4 + 3 674 c.260T>C c.(259-261)gTg>gCg p.V87A NM_016298.3 NP_057382.2 Q9UH90 FBX40_HUMAN F-box protein 40 87 NA V -> A (in dbSNP:rs4676684). muscle cell differentiation (GO:0042692) cytoplasm (GO:0005737) ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 GBM - Glioblastoma multiforme(114;0.189) CACCTGCAGGTGTGCCCCGCC 0.582 NA T||| 2192 0.4377 0.382 0.5259 5008 , , NA 18771 0.5873 NA 0.2525 False NA ,,, NA NA NA 2504 0.4867 NA NA NA NA 0 T ALA/VAL 1501,2905 473.5+/-356.7 255,991,957 49 54 52 260 3.1 1 3 dbSNP_111 52 2110,6490 361.0+/-332.2 256,1598,2446 yes missense FBXO40 NM_016298.3 64 511,2589,3403 CC,CT,TT 24.5349,34.0672,27.7641 benign 87/710 121340536 3611,9395 2203 4300 6503 SO:0001583 missense AF204674 CCDS33835.1 3q21.1 2004-08-24 ENSG00000163833 ENSG00000163833 51725 F-boxes / other 29816 protein-coding gene gene with protein product 609107 NA 10574462 Standard NM_016298 NM_016298 NA Approved KIAA1195, Fbx40 uc003eeg.2 Q9UH90 OTTHUMG00000159410 ENST00000338040.4:c.260T>C chr3.hg19:g.121340536T>C ENSP00000337510:p.Val87Ala NA B2RAX7|Q32M70|Q9ULM5 hg19 CCDS33835.1 0.02 10.38846 AGGxGTG COVERED 884 0.40476190476190477 204 0.4146341463414634 173 0.47790055248618785 311 0.5437062937062938 196 0.25857519788918204 T 10.57 1.387480 0.25031 0.340672 0.245349 ENSG00000163833 ENST00000338040 T 0.41400 1.0 5.47 3.06 0.35304 Zinc finger, TRAF-type (1);Seven In Absentia Homolog-type (1); 0.352897 0.29383 N 0.012307 T 0.00012 0.0000 L 0.46157 1.445 0.26482 P 0.9750886 B 0.31318 0.319 B 0.26416 0.069 T 0.47262 -0.9131 9 0.37606 T 0.19 -4.9402 7.3204 0.26523 0.0:0.1948:0.0:0.8052 rs4676684 87 Q9UH90 FBX40_HUMAN A 87 ENSP00000337510:V87A ENSP00000337510:V87A V + 2 0 FBXO40 122823226 0.990000 0.36364 0.993000 0.49108 0.977000 0.68977 1.820000 0.39032 0.882000 0.36016 -0.408000 0.06270 GTG NOVEL FBXO40-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000355158.1 0 11.731318 KEEP 0 0 0 39 1135 TT 1 1 0 + 19 60 626 0 0 42.301582 237 60 7996 356 ENST00000338040.4 0.074219 1 FBXO40 51725 __UNKNOWN__ __UNKNOWN__ 3 121346656 121346656 __UNKNOWN__ 3'UTR SNP C C T rs2141488 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:121346656C>T ENST00000338040.4 + 0 3443 NM_016298.3 NP_057382.2 Q9UH90 FBX40_HUMAN F-box protein 40 NA NA muscle cell differentiation (GO:0042692) cytoplasm (GO:0005737) ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 GBM - Glioblastoma multiforme(114;0.189) CCAACCTCAGCGTCATGCCAG 0.522 NA C||| 3830 0.764776 0.8132 0.8213 5008 , , NA 18645 0.7173 NA 0.7803 False NA ,,, NA NA NA 2504 0.6922 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF204674 CCDS33835.1 3q21.1 2004-08-24 ENSG00000163833 ENSG00000163833 51725 F-boxes / other 29816 protein-coding gene gene with protein product 609107 NA 10574462 Standard NM_016298 NM_016298 NA Approved KIAA1195, Fbx40 uc003eeg.2 Q9UH90 OTTHUMG00000159410 ENST00000338040.4:c.*899C>T chr3.hg19:g.121346656C>T NA B2RAX7|Q32M70|Q9ULM5 hg19 CCDS33835.1 0.02 4.091964 CAGxGTC COVERED NOVEL FBXO40-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000355158.1 1 4.213546 KEEP 0 0 0 14 481 CC 0.995343 0.995343 0 + 6 60 223 0 0 14.507415 129 60 4575 165 ENST00000338040.4 0.044444 1 FBXO40 51725 __UNKNOWN__ __UNKNOWN__ 3 121346930 121346930 __UNKNOWN__ 3'UTR SNP A A C rs9810952 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:121346930A>C ENST00000338040.4 + 0 3717 NM_016298.3 NP_057382.2 Q9UH90 FBX40_HUMAN F-box protein 40 NA NA muscle cell differentiation (GO:0042692) cytoplasm (GO:0005737) ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 GBM - Glioblastoma multiforme(114;0.189) ACAAAAGTAAAAGAAAAAAAG 0.333 NA A||| 2158 0.430911 0.4274 0.3084 5008 , , NA 21509 0.5665 NA 0.5328 False NA ,,, NA NA NA 2504 0.2781 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF204674 CCDS33835.1 3q21.1 2004-08-24 ENSG00000163833 ENSG00000163833 51725 F-boxes / other 29816 protein-coding gene gene with protein product 609107 NA 10574462 Standard NM_016298 NM_016298 NA Approved KIAA1195, Fbx40 uc003eeg.2 Q9UH90 OTTHUMG00000159410 ENST00000338040.4:c.*1173A>C chr3.hg19:g.121346930A>C NA B2RAX7|Q32M70|Q9ULM5 hg19 CCDS33835.1 0.02 4.36786 TAAxAGA COVERED NOVEL FBXO40-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000355158.1 0 4.798692 KEEP 0 0 0 16 479 AA 0.997832 0.997832 0 + 5 60 186 0 0 11.484732 144 60 5245 188 ENST00000338040.4 0.033557 1 FBXO40 51725 __UNKNOWN__ __UNKNOWN__ 3 121348499 121348499 __UNKNOWN__ 3'UTR SNP T T C rs1873645 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:121348499T>C ENST00000338040.4 + 0 5286 NM_016298.3 NP_057382.2 Q9UH90 FBX40_HUMAN F-box protein 40 NA NA muscle cell differentiation (GO:0042692) cytoplasm (GO:0005737) ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 GBM - Glioblastoma multiforme(114;0.189) CACAACTGCTTTGTGGGTTGT 0.542 NA T||| 1738 0.347045 0.4327 0.5202 5008 , , NA 19758 0.1508 NA 0.2475 False NA ,,, NA NA NA 2504 0.4131 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF204674 CCDS33835.1 3q21.1 2004-08-24 ENSG00000163833 ENSG00000163833 51725 F-boxes / other 29816 protein-coding gene gene with protein product 609107 NA 10574462 Standard NM_016298 NM_016298 NA Approved KIAA1195, Fbx40 uc003eeg.2 Q9UH90 OTTHUMG00000159410 ENST00000338040.4:c.*2742T>C chr3.hg19:g.121348499T>C NA B2RAX7|Q32M70|Q9ULM5 hg19 CCDS33835.1 0.02 7.723346 GCTxTGT COVERED NOVEL FBXO40-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000355158.1 1 3.008606 KEEP 0 0 0 10 302 TT 0.992708 0.992708 0 + 6 60 240 0 0 15.688315 158 60 5590 208 ENST00000338040.4 0.036585 1 GOLGB1 2804 __UNKNOWN__ __UNKNOWN__ 3 121415720 121415720 __UNKNOWN__ Missense_Mutation SNP T T C rs3732410 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:121415720T>C ENST00000393667.3 - 13 3760 c.3650A>G c.(3649-3651)tAt>tGt p.Y1217C GOLGB1_ENST00000340645.5_Missense_Mutation_p.Y1212C NM_001256486.1 NP_001243415.1 Q14789 GOGB1_HUMAN golgin B1 1212 NA Golgi organization (GO:0007030) cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020) poly(A) RNA binding (GO:0044822) NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) CAAGCGATTATAGTCATCTTT 0.428 NA T||| 1101 0.219848 0.0522 0.1585 5008 , , NA 22709 0.4841 NA 0.2505 False NA ,,, NA NA NA 2504 0.1861 NA NA NA NA 0 T CYS/TYR 327,4079 171.9+/-202.1 11,305,1887 221 217 219 3635 4.6 0.9 3 dbSNP_107 219 2113,6487 365.1+/-333.8 277,1559,2464 yes missense GOLGB1 NM_004487.3 194 288,1864,4351 CC,CT,TT 24.5698,7.4217,18.7606 probably-damaging 1212/3260 121415720 2440,10566 2203 4300 6503 SO:0001583 missense X75304 CCDS3004.1, CCDS58847.1, CCDS74989.1 3q13 2010-02-12 2010-02-12 2007-07-27 ENSG00000173230 ENSG00000173230 2804 4429 protein-coding gene gene with protein product macrogolgin, golgi integral membrane protein 1 602500 golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1, golgin B1, golgi integral membrane protein NA 7691276, 15004235 Standard NM_004487 NM_001256486 NA Approved GCP, GCP372, giantin, GOLIM1 uc010hrc.4 Q14789 OTTHUMG00000159411 ENST00000393667.3:c.3650A>G chr3.hg19:g.121415720T>C ENSP00000377275:p.Tyr1217Cys NA B2ZZ91|D3DN92|E7EP74|Q14398 hg19 CCDS58847.1 0.02 28.370654 TTAxAGT COVERED 563 0.25778388278388276 33 0.06707317073170732 70 0.19337016574585636 267 0.46678321678321677 193 0.2546174142480211 T 10.43 1.349415 0.24426 0.074217 0.245698 ENSG00000173230 ENST00000340645;ENST00000393667;ENST00000494517 T;T;T 0.32515 2.09;2.09;1.45 5.81 4.59 0.56863 . 0.000000 0.56097 D 0.000036 T 0.00012 0.0000 L 0.32530 0.975 0.29624 P 0.845993 D;P;P;D 0.76494 0.999;0.936;0.936;0.999 D;P;P;D 0.70487 0.912;0.609;0.609;0.969 T 0.49113 -0.8973 9 0.39692 T 0.17 . 10.852 0.46775 0.0:0.0:0.1579:0.8421 rs3732410;rs52794344;rs61628092;rs3732410 1137;1176;1217;1212 F1T0J2;E7EU81;E7EP74;Q14789 .;.;.;GOGB1_HUMAN C 1212;1217;1176 ENSP00000341848:Y1212C;ENSP00000377275:Y1217C;ENSP00000418231:Y1176C ENSP00000341848:Y1212C Y - 2 0 GOLGB1 122898410 1.000000 0.71417 0.911000 0.35937 0.780000 0.44128 1.966000 0.40481 2.210000 0.71456 0.533000 0.62120 TAT NOVEL GOLGB1-002 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000355160.1 7 35.799388 KEEP 0 0 0 119 3703 TT 1 1 0 - 20 60 772 0 0 48.645368 582 60 21159 854 ENST00000393667.3 0.033223 1 KPNA1 3836 __UNKNOWN__ __UNKNOWN__ 3 122210954 122210954 __UNKNOWN__ Intron SNP G G A rs4677956 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:122210954G>A ENST00000344337.6 - 2 306 NM_002264.3 NP_002255.3 P52294 IMA5_HUMAN karyopherin alpha 1 (importin alpha 5) NA NA apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|regulation of DNA recombination (GO:0000018)|viral life cycle (GO:0019058)|viral process (GO:0016032) cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565) NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 21 GBM - Glioblastoma multiforme(114;0.0898) tgatccgcccgtctcggcctc 0.547 NA -||| 979 0.195487 0.1074 0.2118 5008 , , NA 16190 0.2192 NA 0.2584 False NA ,,, NA NA NA 2504 0.2137 NA NA NA Melanoma(12;340 801 11196 19797) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant S75295 CCDS3013.1 3q21 2013-02-14 ENSG00000114030 ENSG00000114030 3836 Importins, Armadillo repeat containing 6394 protein-coding gene gene with protein product 600686 NA 8052633 Standard NM_002264 NM_002264 NA Approved SRP1, RCH2, NPI-1, IPOA5 uc003efe.2 P52294 OTTHUMG00000159487 ENST00000344337.6:c.129+4329C>T chr3.hg19:g.122210954G>A NA D3DN93|Q6IBQ9|Q9BQ56 hg19 CCDS3013.1 0.02 -0.04386 CCCxTCT UNCOVERED NOVEL KPNA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000355740.1 2 2.708825 KEEP 6 0 0 9 321 GG 0 0 0 - 2 40 79 0 0 7.393067 3 60 92 20 ENST00000344337.6 0.4 0.024074 PARP9 83666 __UNKNOWN__ __UNKNOWN__ 3 122251686 122251686 __UNKNOWN__ Intron SNP A A G rs186207198 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:122251686A>G ENST00000360356.2 - 10 2413 PARP9_ENST00000462315.1_3'UTR|PARP9_ENST00000492382.1_Intron|PARP9_ENST00000471785.1_Intron|PARP9_ENST00000477522.2_Intron NM_001146102.1|NM_031458.2 NP_001139574.1|NP_113646.2 Q8IXQ6 PARP9_HUMAN poly (ADP-ribose) polymerase family, member 9 NA NA cell migration (GO:0016477)|double-strand break repair (GO:0006302)|regulation of response to interferon-gamma (GO:0060330) cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634) NAD+ ADP-ribosyltransferase activity (GO:0003950) endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3) 34 GBM - Glioblastoma multiforme(114;0.0519) agaggcatgaaagtaaacagc 0.438 NA A||| 1 0.000199681 0.0 0.0 5008 , , NA 22382 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF307339 CCDS3014.1, CCDS54633.1, CCDS54634.1 3q13-q21 2010-02-16 ENSG00000138496 ENSG00000138496 83666 Poly (ADP-ribose) polymerases 24118 protein-coding gene gene with protein product 612065 NA 11110709 Standard NM_031458 NM_031458 NA Approved BAL, BAL1 uc003efi.3 Q8IXQ6 OTTHUMG00000159522 ENST00000360356.2:c.2185+3328T>C chr3.hg19:g.122251686A>G NA A8KA94|B2R8S9|E9PFM7|Q8TCP3|Q9BZL8|Q9BZL9 hg19 CCDS3014.1 0.02 7.201391 TGAxAGT COVERED NOVEL PARP9-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000355957.1 2 8.124553 KEEP 0 0 0 27 843 AA 0.999988 0.999988 0 - 6 60 234 0 0 14.873034 172 60 6072 235 ENST00000360356.2 0.033708 1 PARP15 165631 __UNKNOWN__ __UNKNOWN__ 3 122354037 122354037 __UNKNOWN__ Silent SNP A A G rs1106346 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:122354037A>G ENST00000464300.2 + 11 1809 c.1743A>G c.(1741-1743)aaA>aaG p.K581K PARP15_ENST00000483793.1_Silent_p.K386K|PARP15_ENST00000493645.1_Silent_p.K278K|PARP15_ENST00000465304.1_3'UTR|PARP15_ENST00000310366.4_Silent_p.K347K NM_001113523.1 NP_001106995.1 Q460N3 PAR15_HUMAN poly (ADP-ribose) polymerase family, member 15 581 PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}. NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) NAD+ ADP-ribosyltransferase activity (GO:0003950) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 24 GBM - Glioblastoma multiforme(114;0.0531) GTGCTGGGAAAAATGGTAAGG 0.433 NA G||| 1794 0.358227 0.2557 0.3876 5008 , , NA 18818 0.5 NA 0.3787 False NA ,,, NA NA NA 2504 0.3088 NA NA NA NA 0 G , 1163,3243 711.2+/-408.0 156,851,1196 66 59 61 1743,1041 0.9 0 3 dbSNP_86 61 3155,5445 652.4+/-400.9 574,2007,1719 no coding-synonymous,coding-synonymous PARP15 NM_001113523.1,NM_152615.1 , 730,2858,2915 GG,GA,AA 36.686,26.3958,33.2001 , 581/679,347/445 122354037 4318,8688 2203 4300 6503 SO:0001819 synonymous_variant AK097916 CCDS3016.1, CCDS46893.1 3q21 2010-02-16 ENSG00000173200 ENSG00000173200 165631 Poly (ADP-ribose) polymerases 26876 protein-coding gene gene with protein product 612066 NA 15273990 Standard NM_152615 NM_001113523 NA Approved FLJ40597, pART7 uc003efm.2 Q460N3 OTTHUMG00000159523 ENST00000464300.2:c.1743A>G chr3.hg19:g.122354037A>G NA J3KR47|Q8N1K3 hg19 CCDS46893.1 0.02 16.083376 GAAxAAT COVERED NOVEL PARP15-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000355964.2 3 3.373478 KEEP 0 2 71 36 1079 AA 1 1 0 + 24 60 903 0 0 62.577877 367 60 13261 505 ENST00000464300.2 0.061381 1 PARP15 165631 __UNKNOWN__ __UNKNOWN__ 3 122354052 122354052 __UNKNOWN__ Intron SNP A A G rs1106345 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:122354052A>G ENST00000464300.2 + 11 1813 PARP15_ENST00000483793.1_Intron|PARP15_ENST00000493645.1_Intron|PARP15_ENST00000465304.1_Intron|PARP15_ENST00000310366.4_Intron NM_001113523.1 NP_001106995.1 Q460N3 PAR15_HUMAN poly (ADP-ribose) polymerase family, member 15 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) NAD+ ADP-ribosyltransferase activity (GO:0003950) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 24 GBM - Glioblastoma multiforme(114;0.0531) GTAAGGAAGCAAGTAATTTGG 0.438 NA G||| 1203 0.240216 0.1619 0.2493 5008 , , NA 18163 0.4911 NA 0.1322 False NA ,,, NA NA NA 2504 0.1922 NA NA NA NA 0 G , 734,3672 756.3+/-412.6 62,610,1531 58 52 54 , -3.8 0 3 dbSNP_86 54 1143,7457 766.4+/-407.6 91,961,3248 no intron,intron PARP15 NM_001113523.1,NM_152615.1 , 153,1571,4779 GG,GA,AA 13.2907,16.6591,14.4318 , , 122354052 1877,11129 2203 4300 6503 SO:0001627 intron_variant AK097916 CCDS3016.1, CCDS46893.1 3q21 2010-02-16 ENSG00000173200 ENSG00000173200 165631 Poly (ADP-ribose) polymerases 26876 protein-coding gene gene with protein product 612066 NA 15273990 Standard NM_152615 NM_001113523 NA Approved FLJ40597, pART7 uc003efm.2 Q460N3 OTTHUMG00000159523 ENST00000464300.2:c.1747+11A>G chr3.hg19:g.122354052A>G NA J3KR47|Q8N1K3 hg19 CCDS46893.1 0.02 16.026047 AGCxAGT COVERED NOVEL PARP15-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000355964.2 2 2.547745 KEEP 0 2 61 30 897 AA 0.999997 0.999997 0 + 21 60 773 0 0 52.78208 331 60 12051 443 ENST00000464300.2 0.059659 1 PARP15 165631 __UNKNOWN__ __UNKNOWN__ 3 122354792 122354792 __UNKNOWN__ Missense_Mutation SNP G G A rs12489170 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:122354792G>A ENST00000464300.2 + 12 1948 c.1882G>A c.(1882-1884)Gga>Aga p.G628R PARP15_ENST00000483793.1_Missense_Mutation_p.G433R|PARP15_ENST00000493645.1_Missense_Mutation_p.G325R|PARP15_ENST00000465304.1_3'UTR|PARP15_ENST00000310366.4_Missense_Mutation_p.G394R NM_001113523.1 NP_001106995.1 Q460N3 PAR15_HUMAN poly (ADP-ribose) polymerase family, member 15 628 PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}. NA G -> R (in dbSNP:rs12489170). regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) NAD+ ADP-ribosyltransferase activity (GO:0003950) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 24 GBM - Glioblastoma multiforme(114;0.0531) CTTCACAAAGGGACGTGCAGG 0.478 NA G||| 1110 0.221645 0.0983 0.2478 5008 , , NA 19992 0.4881 NA 0.1322 False NA ,,, NA NA NA 2504 0.1871 NA NA NA NA 0 G ARG/GLY,ARG/GLY 511,3895 236.1+/-248.4 28,455,1720 164 134 144 1882,1180 4 0 3 dbSNP_120 144 1138,7462 233.7+/-266.9 91,956,3253 yes missense,missense PARP15 NM_001113523.1,NM_152615.1 125,125 119,1411,4973 AA,AG,GG 13.2326,11.5978,12.6788 probably-damaging,probably-damaging 628/679,394/445 122354792 1649,11357 2203 4300 6503 SO:0001583 missense AK097916 CCDS3016.1, CCDS46893.1 3q21 2010-02-16 ENSG00000173200 ENSG00000173200 165631 Poly (ADP-ribose) polymerases 26876 protein-coding gene gene with protein product 612066 NA 15273990 Standard NM_152615 NM_001113523 NA Approved FLJ40597, pART7 uc003efm.2 Q460N3 OTTHUMG00000159523 ENST00000464300.2:c.1882G>A chr3.hg19:g.122354792G>A ENSP00000417214:p.Gly628Arg NA J3KR47|Q8N1K3 hg19 CCDS46893.1 0.02 16.574328 AAGxGAC COVERED 512 0.23443223443223443 48 0.0975609756097561 82 0.2265193370165746 281 0.49125874125874125 101 0.13324538258575197 G 20.7 4.030508 0.75504 0.115978 0.132326 ENSG00000173200 ENST00000464300;ENST00000483793;ENST00000542823;ENST00000310366;ENST00000493645 T;T;T;T 0.16457 2.34;2.34;2.34;2.34 3.99 3.99 0.46301 Poly(ADP-ribose) polymerase, catalytic domain (2); . . . . T 0.00012 0.0000 M 0.93594 3.435 0.09310 P 0.99999999239116 D;D;D;D;D 0.89917 1.0;1.0;1.0;1.0;1.0 D;D;D;D;D 0.97110 1.0;1.0;1.0;1.0;1.0 T 0.48502 -0.9030 8 0.62326 D 0.03 . 14.7995 0.69903 0.0:0.0:1.0:0.0 rs12489170;rs60932120;rs12489170 325;394;375;433;606 B7ZL48;Q460N3-2;F5H8I1;C9J7L3;Q460N3 .;.;.;.;PAR15_HUMAN R 628;433;375;394;325 ENSP00000417214:G628R;ENSP00000417785:G433R;ENSP00000308436:G394R;ENSP00000419488:G325R ENSP00000308436:G394R G + 1 0 PARP15 123837482 1.000000 0.71417 0.030000 0.17652 0.002000 0.02628 9.647000 0.98478 2.058000 0.61347 0.650000 0.86243 GGA NOVEL PARP15-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000355964.2 0 9.029423 KEEP 0 0 0 30 1061 GG 0.999997 0.999997 0 + 22 60 834 0 0 57.107714 370 60 13495 491 ENST00000464300.2 0.056122 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 122382261 122382261 __UNKNOWN__ IGR SNP T T C rs6768484 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:122382261T>C NA NA PARP15 (24367 upstream) : PARP14 (17203 downstream) NA NA NA CTAAGTCACATAGATGATCTC 0.398 NA t||| 1362 0.271965 0.2352 0.3199 5008 , , NA 21488 0.4901 NA 0.1223 False NA ,,, NA NA NA 2504 0.2168 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.122382261T>C NA hg19 0.02 7.28301 ACAxAGA COVERED NOVEL 0 0 11.429657 KEEP 0 0 0 38 1111 TT 1 1 0 17 60 638 0 0 47.470285 163 60 6000 252 0.094444 1 PARP14 54625 __UNKNOWN__ __UNKNOWN__ 3 122406140 122406140 __UNKNOWN__ Intron SNP T T C rs16833393 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:122406140T>C ENST00000474629.2 + 3 621 NM_017554.2 NP_060024.2 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634) NAD+ ADP-ribosyltransferase activity (GO:0003950) NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(114;0.0531) AGGGTGGCTTTTAGCGCTCAG 0.532 NA T||| 379 0.0756789 0.0371 0.0994 5008 , , NA 21425 0.127 NA 0.0885 False NA ,,, NA NA NA 2504 0.045 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB033094 CCDS46894.1 3q21 2010-02-16 ENSG00000173193 ENSG00000173193 54625 Poly (ADP-ribose) polymerases 29232 protein-coding gene gene with protein product 610028 NA 15273990 Standard NM_017554 NM_017554 NA Approved KIAA1268, pART8 uc003efq.4 Q460N5 OTTHUMG00000159552 ENST00000474629.2:c.355+180T>C chr3.hg19:g.122406140T>C NA B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2 hg19 CCDS46894.1 0.02 2.376667 CTTxTAG COVERED NOVEL PARP14-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000356173.2 2 2.406408 KEEP 0 0 0 8 250 TT 0.99257 0.991893 0 + 30 60 1144 0 0 105.526822 51 60 1791 90 ENST00000474629.2 0.37037 0.999317 PARP14 54625 __UNKNOWN__ __UNKNOWN__ 3 122448203 122448203 __UNKNOWN__ 3'UTR SNP C C T rs10934615 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:122448203C>T ENST00000474629.2 + 0 6431 NM_017554.2 NP_060024.2 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634) NAD+ ADP-ribosyltransferase activity (GO:0003950) NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(114;0.0531) GGGAATCCTGCCTGCCCCATG 0.522 NA -||| 756 0.150958 0.0635 0.147 5008 , , NA 17525 0.3502 NA 0.0825 False NA ,,, NA NA NA 2504 0.137 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB033094 CCDS46894.1 3q21 2010-02-16 ENSG00000173193 ENSG00000173193 54625 Poly (ADP-ribose) polymerases 29232 protein-coding gene gene with protein product 610028 NA 15273990 Standard NM_017554 NM_017554 NA Approved KIAA1268, pART8 uc003efq.4 Q460N5 OTTHUMG00000159552 ENST00000474629.2:c.*759C>T chr3.hg19:g.122448203C>T NA B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2 hg19 CCDS46894.1 0.02 4.446206 CTGxCTG COVERED NOVEL PARP14-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000356173.2 2 6.621599 KEEP 0 0 0 22 784 CC 0.999879 0.999866 0 + 8 60 294 0 0 20.938887 97 60 3489 155 ENST00000474629.2 0.07619 0.999987 SEC22A 26984 __UNKNOWN__ __UNKNOWN__ 3 122942402 122942402 __UNKNOWN__ Intron SNP G G A rs1546604 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:122942402G>A ENST00000309934.4 + 2 1078 SEC22A_ENST00000481965.2_Intron|SEC22A_ENST00000492595.1_Intron|SEC22A_ENST00000477063.1_Intron NM_012430.4 NP_036562.2 Q96IW7 SC22A_HUMAN SEC22 vesicle trafficking protein homolog A (S. cerevisiae) NA NA ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) transporter activity (GO:0005215) NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1) 10 GBM - Glioblastoma multiforme(114;0.0548) TTTTTACACTGTAGTTTTATT 0.383 NA A||| 935 0.186701 0.1989 0.1931 5008 , , NA 16791 0.1091 NA 0.2107 False NA ,,, NA NA NA 2504 0.2209 NA NA NA NA 0 A 854,3552 742.1+/-411.3 85,684,1434 118 120 119 -0.8 1 3 dbSNP_88 119 1683,6917 738.6+/-407.1 172,1339,2789 no intron SEC22A NM_012430.4 257,2023,4223 AA,AG,GG 19.5698,19.3827,19.5064 122942402 2537,10469 2203 4300 6503 SO:0001627 intron_variant AF100749 CCDS3021.1 3q21.1 2006-04-25 2006-04-25 2006-04-25 ENSG00000121542 ENSG00000121542 26984 20260 protein-coding gene gene with protein product 612442 SEC22 vesicle trafficking protein-like 2 (S. cerevisiae) SEC22L2 NA 9094723, 9501016 Standard NM_012430 NM_012430 NA Approved uc003ege.3 Q96IW7 OTTHUMG00000159495 ENST00000309934.4:c.183-4G>A chr3.hg19:g.122942402G>A NA B2RE26|Q9Y682 hg19 CCDS3021.1 0.02 20.661887 ACTxTAG COVERED NOVEL SEC22A-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000355770.2 1 20.801926 KEEP 0 1 28 79 2831 GG 1 1 0 + 20 60 708 0 0 43.251589 518 60 19878 735 ENST00000309934.4 0.037175 1 SEC22A 26984 __UNKNOWN__ __UNKNOWN__ 3 122978486 122978486 __UNKNOWN__ Intron SNP G G A rs9289216 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:122978486G>A ENST00000309934.4 + 5 1619 SEC22A_ENST00000481965.2_Intron|SEC22A_ENST00000492595.1_Intron NM_012430.4 NP_036562.2 Q96IW7 SC22A_HUMAN SEC22 vesicle trafficking protein homolog A (S. cerevisiae) NA NA ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) transporter activity (GO:0005215) NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1) 10 GBM - Glioblastoma multiforme(114;0.0548) TGTTTACTTCGGGTATCAGTT 0.318 NA G||| 946 0.188898 0.1989 0.1931 5008 , , NA 17974 0.12 NA 0.2107 False NA ,,, NA NA NA 2504 0.2209 NA NA NA NA 0 G 850,3552 85,680,1436 41 40 40 3.2 0 3 dbSNP_119 40 1674,6922 171,1332,2795 no intron SEC22A NM_012430.4 256,2012,4231 AA,AG,GG 19.4742,19.3094,19.4184 122978486 2524,10474 2201 4298 6499 SO:0001627 intron_variant AF100749 CCDS3021.1 3q21.1 2006-04-25 2006-04-25 2006-04-25 ENSG00000121542 ENSG00000121542 26984 20260 protein-coding gene gene with protein product 612442 SEC22 vesicle trafficking protein-like 2 (S. cerevisiae) SEC22L2 NA 9094723, 9501016 Standard NM_012430 NM_012430 NA Approved uc003ege.3 Q96IW7 OTTHUMG00000159495 ENST00000309934.4:c.723+50G>A chr3.hg19:g.122978486G>A NA B2RE26|Q9Y682 hg19 CCDS3021.1 0.02 1.865367 TTCxGGT COVERED NOVEL SEC22A-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000355770.2 0 4.51398 KEEP 0 0 0 15 504 GG 0.99649 0.993663 0 + 4 60 141 0 0 9.327154 67 60 2378 101 ENST00000309934.4 0.056338 0.997163 SEC22A 26984 __UNKNOWN__ __UNKNOWN__ 3 122991850 122991850 __UNKNOWN__ 3'UTR SNP G G T rs6788519 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:122991850G>T ENST00000309934.4 + 0 3101 NM_012430.4 NP_036562.2 Q96IW7 SC22A_HUMAN SEC22 vesicle trafficking protein homolog A (S. cerevisiae) NA NA ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) transporter activity (GO:0005215) NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1) 10 GBM - Glioblastoma multiforme(114;0.0548) AAGCACAGTTGGATTCCACTA 0.308 NA T||| 1114 0.222444 0.3245 0.1974 5008 , , NA 19801 0.12 NA 0.2107 False NA ,,, NA NA NA 2504 0.2198 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF100749 CCDS3021.1 3q21.1 2006-04-25 2006-04-25 2006-04-25 ENSG00000121542 ENSG00000121542 26984 20260 protein-coding gene gene with protein product 612442 SEC22 vesicle trafficking protein-like 2 (S. cerevisiae) SEC22L2 NA 9094723, 9501016 Standard NM_012430 NM_012430 NA Approved uc003ege.3 Q96IW7 OTTHUMG00000159495 ENST00000309934.4:c.*1281G>T chr3.hg19:g.122991850G>T NA B2RE26|Q9Y682 hg19 CCDS3021.1 0.02 6.950388 GTTxGAT COVERED NOVEL SEC22A-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000355770.2 2 16.252147 KEEP 0 0 0 54 1890 GG 1 1 0 + 7 60 266 0 0 17.457782 153 60 5797 267 ENST00000309934.4 0.04375 1 SEC22A 26984 __UNKNOWN__ __UNKNOWN__ 3 122991903 122991903 __UNKNOWN__ 3'UTR SNP G G A rs6788538 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:122991903G>A ENST00000309934.4 + 0 3154 NM_012430.4 NP_036562.2 Q96IW7 SC22A_HUMAN SEC22 vesicle trafficking protein homolog A (S. cerevisiae) NA NA ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) transporter activity (GO:0005215) NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1) 10 GBM - Glioblastoma multiforme(114;0.0548) CATCTTCATGGGTGATTTTCC 0.299 NA A||| 1115 0.222644 0.3245 0.1974 5008 , , NA 18998 0.12 NA 0.2107 False NA ,,, NA NA NA 2504 0.2209 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF100749 CCDS3021.1 3q21.1 2006-04-25 2006-04-25 2006-04-25 ENSG00000121542 ENSG00000121542 26984 20260 protein-coding gene gene with protein product 612442 SEC22 vesicle trafficking protein-like 2 (S. cerevisiae) SEC22L2 NA 9094723, 9501016 Standard NM_012430 NM_012430 NA Approved uc003ege.3 Q96IW7 OTTHUMG00000159495 ENST00000309934.4:c.*1334G>A chr3.hg19:g.122991903G>A NA B2RE26|Q9Y682 hg19 CCDS3021.1 0.02 6.55518 ATGxGTG COVERED NOVEL SEC22A-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000355770.2 1 15.048532 KEEP 0 0 0 50 1731 GG 1 1 0 + 7 60 263 0 0 16.934918 165 60 5895 262 ENST00000309934.4 0.040698 1 SEC22A 26984 __UNKNOWN__ __UNKNOWN__ 3 122992635 122992635 __UNKNOWN__ 3'UTR SNP A A G rs6764652 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:122992635A>G ENST00000309934.4 + 0 3886 NM_012430.4 NP_036562.2 Q96IW7 SC22A_HUMAN SEC22 vesicle trafficking protein homolog A (S. cerevisiae) NA NA ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) transporter activity (GO:0005215) NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1) 10 GBM - Glioblastoma multiforme(114;0.0548) cagcctggccaacagagcgag 0.478 NA G||| 1002 0.20008 0.2413 0.1931 5008 , , NA 19160 0.12 NA 0.2107 False NA ,,, NA NA NA 2504 0.2209 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF100749 CCDS3021.1 3q21.1 2006-04-25 2006-04-25 2006-04-25 ENSG00000121542 ENSG00000121542 26984 20260 protein-coding gene gene with protein product 612442 SEC22 vesicle trafficking protein-like 2 (S. cerevisiae) SEC22L2 NA 9094723, 9501016 Standard NM_012430 NM_012430 NA Approved uc003ege.3 Q96IW7 OTTHUMG00000159495 ENST00000309934.4:c.*2066A>G chr3.hg19:g.122992635A>G NA B2RE26|Q9Y682 hg19 CCDS3021.1 0.02 -0.219317 GCCxACA COVERED NOVEL SEC22A-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000355770.2 1 5.716414 KEEP 0 0 0 19 574 AA 0.99986 0.582848 0 + 3 60 94 0 0 6.849302 22 60 787 54 ENST00000309934.4 0.12 0.58293 ADCY5 111 __UNKNOWN__ __UNKNOWN__ 3 123005476 123005476 __UNKNOWN__ Intron SNP G G T rs76023261 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:123005476G>T ENST00000491190.1 - 22 3169 ADCY5_ENST00000309879.5_Intron|ADCY5_ENST00000462833.1_Intron O95622 ADCY5_HUMAN adenylate cyclase 5 NA NA activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372) adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982) breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(114;0.0342) AGACCTCTCGGTGTCAGACAC 0.602 NA OREG0015741 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) G||| 185 0.0369409 0.0121 0.0014 5008 , , NA 20498 0.0893 NA 0.001 False NA ,,, NA NA NA 2504 0.0787 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U65473 CCDS3022.1, CCDS56274.1 3q21.1 2013-02-04 ENSG00000173175 ENSG00000173175 111 4.6.1.1 Adenylate cyclases 236 protein-coding gene gene with protein product 600293 NA 10481931 Standard XM_171048 NM_183357 NA Approved AC5 uc003egh.2 O95622 OTTHUMG00000159517 ENST00000491190.1:c.2631+55C>A chr3.hg19:g.123005476G>T 1523 B7Z8A6|Q7RTV7|Q8NFM3 hg19 0.02 5.92981 TCGxTGT COVERED NOVEL ADCY5-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000355890.1 0 8.728067 KEEP 0 0 0 29 1005 GG 0.999997 0.999997 0 - 7 60 251 0 0 15.682431 168 60 5933 220 ENST00000491190.1 0.04 1 ADCY5 111 __UNKNOWN__ __UNKNOWN__ 3 123010363 123010363 __UNKNOWN__ Intron SNP C C T rs56066738 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:123010363C>T ENST00000491190.1 - 20 2575 ADCY5_ENST00000309879.5_Intron|ADCY5_ENST00000462833.1_Intron O95622 ADCY5_HUMAN adenylate cyclase 5 NA NA activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372) adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982) breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(114;0.0342) TGGCAAGTACCGCTGTCTCTC 0.527 NA c||| 734 0.146565 0.0446 0.1787 5008 , , NA 20201 0.123 NA 0.2028 False NA ,,, NA NA NA 2504 0.228 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U65473 CCDS3022.1, CCDS56274.1 3q21.1 2013-02-04 ENSG00000173175 ENSG00000173175 111 4.6.1.1 Adenylate cyclases 236 protein-coding gene gene with protein product 600293 NA 10481931 Standard XM_171048 NM_183357 NA Approved AC5 uc003egh.2 O95622 OTTHUMG00000159517 ENST00000491190.1:c.2038-140G>A chr3.hg19:g.123010363C>T NA B7Z8A6|Q7RTV7|Q8NFM3 hg19 0.02 2.224347 TACxGCT COVERED NOVEL ADCY5-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000355890.1 1 3.611003 KEEP 0 0 0 12 381 CC 0.993634 0.993361 0 - 4 60 152 0 0 10.064646 83 60 2637 100 ENST00000491190.1 0.045977 0.999726 ADCY5 111 __UNKNOWN__ __UNKNOWN__ 3 123022992 123022992 __UNKNOWN__ Silent SNP G G T rs75494273 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:123022992G>T ENST00000491190.1 - 14 1917 c.1380C>A c.(1378-1380)atC>atA p.I460I ADCY5_ENST00000309879.5_Silent_p.I477I|ADCY5_ENST00000462833.1_Silent_p.I827I O95622 ADCY5_HUMAN adenylate cyclase 5 827 NA activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372) adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982) breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(114;0.0342) TGGACCGCACGATCTTCCTGG 0.607 NA g||| 120 0.0239617 0.0 0.0 5008 , , NA 13211 0.1181 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 , 4,4402 8.1+/-20.4 0,4,2199 65 56 59 1431,2481 -1.6 1 3 dbSNP_131 59 1,8599 1.2+/-3.3 0,1,4299 no coding-synonymous,coding-synonymous ADCY5 NM_001199642.1,NM_183357.2 , 0,5,6498 TT,TG,GG 0.0116,0.0908,0.0384 , 477/912,827/1262 123022992 5,13001 2203 4300 6503 SO:0001819 synonymous_variant U65473 CCDS3022.1, CCDS56274.1 3q21.1 2013-02-04 ENSG00000173175 ENSG00000173175 111 4.6.1.1 Adenylate cyclases 236 protein-coding gene gene with protein product 600293 NA 10481931 Standard XM_171048 NM_183357 NA Approved AC5 uc003egh.2 O95622 OTTHUMG00000159517 ENST00000491190.1:c.1380C>A chr3.hg19:g.123022992G>T NA B7Z8A6|Q7RTV7|Q8NFM3 hg19 0.02 6.382614 CACxATC COVERED NOVEL ADCY5-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000355890.1 2 10.83218 KEEP 0 0 0 36 1183 GG 0.999999 0.999999 0 - 8 60 277 0 0 17.544414 161 60 5709 259 ENST00000491190.1 0.047337 1 PTPLB 201562 __UNKNOWN__ __UNKNOWN__ 3 123211064 123211064 __UNKNOWN__ 3'UTR SNP G G T rs10668 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:123211064G>T ENST00000383657.5 - 0 3593 PTPLB_ENST00000471236.1_Intron NM_198402.3 NP_940684.1 Q6Y1H2 HACD2_HUMAN protein tyrosine phosphatase-like (proline instead of catalytic arginine), member b NA NA fatty acid biosynthetic process (GO:0006633) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) lyase activity (GO:0016829) kidney(2) 2 GBM - Glioblastoma multiforme(114;0.1) CACTACTGCGGACCTCAAAGA 0.458 NA G||| 1129 0.225439 0.0272 0.3329 5008 , , NA 18274 0.0516 NA 0.494 False NA ,,, NA NA NA 2504 0.32 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK074605 CCDS46895.1 3q21.1 2010-04-30 ENSG00000206527 ENSG00000206527 201562 9640 protein-coding gene gene with protein product 615939 NA 15024066 Standard NM_198402 NM_198402 NA Approved uc003egj.2 Q6Y1H2 OTTHUMG00000159529 ENST00000383657.5:c.*2671C>A chr3.hg19:g.123211064G>T NA hg19 CCDS46895.1 0.02 3.824061 GCGxACC COVERED NOVEL PTPLB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000356021.3 1 6.755742 KEEP 0 1 21 30 1072 GG 0.999997 0.999996 0 - 5 60 180 0 0 11.362808 115 60 4293 188 ENST00000383657.5 0.041667 0.999999 PTPLB 201562 __UNKNOWN__ __UNKNOWN__ 3 123247151 123247151 __UNKNOWN__ Intron SNP T T C rs16834399 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:123247151T>C ENST00000383657.5 - 4 539 NM_198402.3 NP_940684.1 Q6Y1H2 HACD2_HUMAN protein tyrosine phosphatase-like (proline instead of catalytic arginine), member b NA NA fatty acid biosynthetic process (GO:0006633) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) lyase activity (GO:0016829) kidney(2) 2 GBM - Glioblastoma multiforme(114;0.1) TGGAACTCTTTAGCCATAACA 0.373 NA T||| 431 0.0860623 0.0129 0.0346 5008 , , NA 19507 0.2629 NA 0.0109 False NA ,,, NA NA NA 2504 0.1166 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK074605 CCDS46895.1 3q21.1 2010-04-30 ENSG00000206527 ENSG00000206527 201562 9640 protein-coding gene gene with protein product 615939 NA 15024066 Standard NM_198402 NM_198402 NA Approved uc003egj.2 Q6Y1H2 OTTHUMG00000159529 ENST00000383657.5:c.381+81A>G chr3.hg19:g.123247151T>C NA hg19 CCDS46895.1 0.02 9.378821 CTTxAGC COVERED NOVEL PTPLB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000356021.3 2 10.227215 KEEP 0 0 0 34 1009 TT 0.999998 0.999998 0 - 11 60 396 0 0 26.418928 191 60 6830 267 ENST00000383657.5 0.054455 1 MYLK 4638 __UNKNOWN__ __UNKNOWN__ 3 123329693 123329693 __UNKNOWN__ 3'UTR SNP A A C rs76457194 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:123329693A>C ENST00000360772.3 - 0 9229 MYLK-AS1_ENST00000485162.1_RNA|MYLK-AS1_ENST00000463408.1_RNA|MYLK-AS1_ENST00000470449.1_RNA Q15746 MYLK_HUMAN myosin light chain kinase NA NA actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820) cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725) ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687) NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) ACAAAAATAAAAAATCTTTAC 0.289 NA A||| 387 0.0772764 0.0121 0.0346 5008 , , NA 17596 0.2381 NA 0.0109 False NA ,,, NA NA NA 2504 0.0982 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X85337 CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1 3q21 2013-02-11 2008-01-23 ENSG00000065534 ENSG00000065534 4638 2.7.11.18 Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing 7590 protein-coding gene gene with protein product smooth muscle myosin light chain kinase 600922 myosin, light polypeptide kinase NA 8575746 Standard NM_053025 NM_053026 NA Approved MLCK, smMLCK, MYLK1, MLCK1 uc003ego.3 Q15746 OTTHUMG00000141304 ENST00000360772.3:c.*3259T>G chr3.hg19:g.123329693A>C NA B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9 hg19 CCDS3023.1 0.02 4.566428 TAAxAAA COVERED NOVEL MYLK-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000280599.2 0 9.629433 KEEP 0 0 0 32 1020 AA 0.999997 0.999994 0 - 7 60 264 0 0 18.287659 108 60 3885 176 ENST00000360772.3 0.06087 0.999997 MYLK 4638 __UNKNOWN__ __UNKNOWN__ 3 123329932 123329932 __UNKNOWN__ 3'UTR SNP T T C rs2626028 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:123329932T>C ENST00000360772.3 - 0 8990 MYLK-AS1_ENST00000485162.1_RNA|MYLK-AS1_ENST00000463408.1_RNA|MYLK-AS1_ENST00000470449.1_RNA Q15746 MYLK_HUMAN myosin light chain kinase NA NA actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820) cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725) ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687) NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) TAATAAATTGTTAGGGACATT 0.274 NA C||| 2563 0.511781 0.8442 0.4193 5008 , , NA 17590 0.6329 NA 0.1839 False NA ,,, NA NA NA 2504 0.3405 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X85337 CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1 3q21 2013-02-11 2008-01-23 ENSG00000065534 ENSG00000065534 4638 2.7.11.18 Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing 7590 protein-coding gene gene with protein product smooth muscle myosin light chain kinase 600922 myosin, light polypeptide kinase NA 8575746 Standard NM_053025 NM_053026 NA Approved MLCK, smMLCK, MYLK1, MLCK1 uc003ego.3 Q15746 OTTHUMG00000141304 ENST00000360772.3:c.*3020A>G chr3.hg19:g.123329932T>C NA B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9 hg19 CCDS3023.1 0.02 6.284645 TTGxTAG COVERED NOVEL MYLK-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000280599.2 0 15.644773 KEEP 0 0 0 52 1611 TT 1 1 0 - 9 60 334 0 0 22.180327 171 60 6047 269 ENST00000360772.3 0.05 1 MYLK 4638 __UNKNOWN__ __UNKNOWN__ 3 123331143 123331143 __UNKNOWN__ 3'UTR SNP T T C rs6438804 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:123331143T>C ENST00000360772.3 - 0 7779 MYLK-AS1_ENST00000485162.1_RNA|MYLK-AS1_ENST00000463408.1_RNA|MYLK-AS1_ENST00000470449.1_RNA Q15746 MYLK_HUMAN myosin light chain kinase NA NA actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820) cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725) ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687) NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) TCTGCAAAGATTGAACAAACA 0.373 NA T||| 2224 0.444089 0.6551 0.3833 5008 , , NA 19706 0.621 NA 0.1491 False NA ,,, NA NA NA 2504 0.3231 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X85337 CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1 3q21 2013-02-11 2008-01-23 ENSG00000065534 ENSG00000065534 4638 2.7.11.18 Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing 7590 protein-coding gene gene with protein product smooth muscle myosin light chain kinase 600922 myosin, light polypeptide kinase NA 8575746 Standard NM_053025 NM_053026 NA Approved MLCK, smMLCK, MYLK1, MLCK1 uc003ego.3 Q15746 OTTHUMG00000141304 ENST00000360772.3:c.*1809A>G chr3.hg19:g.123331143T>C NA B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9 hg19 CCDS3023.1 0.02 4.117877 AGAxTGA COVERED NOVEL MYLK-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000280599.2 2 13.811907 KEEP 0 0 0 46 1395 TT 1 1 0 - 6 60 227 0 0 14.965849 126 60 4601 205 ENST00000360772.3 0.045455 1 MYLK 4638 __UNKNOWN__ __UNKNOWN__ 3 123332340 123332340 __UNKNOWN__ 3'UTR SNP G G T rs9422 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:123332340G>T ENST00000578202.1 - 0 1293 MYLK-AS1_ENST00000485162.1_RNA|MYLK-AS1_ENST00000463408.1_RNA|MYLK-AS1_ENST00000470449.1_RNA|MYLK_ENST00000418370.2_3'UTR|MYLK_ENST00000359169.1_3'UTR|MYLK_ENST00000360304.3_3'UTR|MYLK_ENST00000360772.3_3'UTR NM_053031.2 NP_444259.1 Q15746 MYLK_HUMAN myosin light chain kinase NA NA actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820) cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725) ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687) NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) CTTCAGAATCGAAGAAGCATA 0.413 NA T||| 2482 0.495607 0.8048 0.4135 5008 , , NA 19603 0.628 NA 0.175 False NA ,,, NA NA NA 2504 0.3292 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X85337 CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1 3q21 2013-02-11 2008-01-23 ENSG00000065534 ENSG00000065534 4638 2.7.11.18 Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing 7590 protein-coding gene gene with protein product smooth muscle myosin light chain kinase 600922 myosin, light polypeptide kinase NA 8575746 Standard NM_053025 NM_053026 NA Approved MLCK, smMLCK, MYLK1, MLCK1 uc003ego.3 Q15746 OTTHUMG00000141304 ENST00000578202.1:c.*612C>A chr3.hg19:g.123332340G>T NA B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9 hg19 CCDS58849.1 0.02 7.120469 ATCxAAG COVERED NOVEL MYLK-019 NOVEL NAGNAG_splice_site|basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000444083.1 1 9.630328 KEEP 0 0 0 32 1070 GG 0.999997 0.999997 0 - 6 60 226 0 0 14.473869 147 60 5303 220 ENST00000578202.1 0.039216 1 MYLK 4638 __UNKNOWN__ __UNKNOWN__ 3 123340878 123340878 __UNKNOWN__ Intron SNP A A G rs820455 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:123340878A>G ENST00000475616.1 - 29 5238 MYLK_ENST00000418370.2_5'UTR|MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000346322.5_Intron|MYLK-AS1_ENST00000463408.1_RNA|MYLK_ENST00000360304.3_Intron|MYLK_ENST00000354792.5_Intron|MYLK_ENST00000359169.1_Intron|MYLK_ENST00000360772.3_Intron|MYLK-AS1_ENST00000470449.1_RNA Q15746 MYLK_HUMAN myosin light chain kinase NA NA actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820) cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725) ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687) NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) GTGCTAGACAAAGTGTAGAGA 0.557 NA G||| 514 0.102636 0.0514 0.062 5008 , , NA 21646 0.246 NA 0.0437 False NA ,,, NA NA NA 2504 0.1135 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X85337 CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1 3q21 2013-02-11 2008-01-23 ENSG00000065534 ENSG00000065534 4638 2.7.11.18 Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing 7590 protein-coding gene gene with protein product smooth muscle myosin light chain kinase 600922 myosin, light polypeptide kinase NA 8575746 Standard NM_053025 NM_053026 NA Approved MLCK, smMLCK, MYLK1, MLCK1 uc003ego.3 Q15746 OTTHUMG00000141304 ENST00000475616.1:c.5239-1695T>C chr3.hg19:g.123340878A>G NA B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9 hg19 CCDS46896.1 0.02 19.014523 ACAxAGT COVERED NOVEL MYLK-004 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000356464.1 2 38.19143 KEEP 0 0 0 127 3961 AA 1 1 0 - 13 60 492 1 0 29.968439 428 60 15334 699 ENST00000475616.1 0.029478 1 MYLK 4638 __UNKNOWN__ __UNKNOWN__ 3 123341958 123341958 __UNKNOWN__ Intron SNP T T A rs2697525 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:123341958T>A ENST00000475616.1 - 29 5238 MYLK_ENST00000418370.2_5'UTR|MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000346322.5_Intron|MYLK-AS1_ENST00000463408.1_RNA|MYLK_ENST00000360304.3_Intron|MYLK_ENST00000354792.5_Intron|MYLK_ENST00000359169.1_Intron|MYLK_ENST00000360772.3_Intron|MYLK-AS1_ENST00000470449.1_RNA Q15746 MYLK_HUMAN myosin light chain kinase NA NA actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820) cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725) ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687) NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) ttccctgacatacatacagca 0.522 NA A||| 2603 0.519768 0.8805 0.4179 5008 , , NA 16850 0.631 NA 0.1779 False NA ,,, NA NA NA 2504 0.3415 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X85337 CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1 3q21 2013-02-11 2008-01-23 ENSG00000065534 ENSG00000065534 4638 2.7.11.18 Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing 7590 protein-coding gene gene with protein product smooth muscle myosin light chain kinase 600922 myosin, light polypeptide kinase NA 8575746 Standard NM_053025 NM_053026 NA Approved MLCK, smMLCK, MYLK1, MLCK1 uc003ego.3 Q15746 OTTHUMG00000141304 ENST00000475616.1:c.5239-2775A>T chr3.hg19:g.123341958T>A NA B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9 hg19 CCDS46896.1 0.02 12.364258 ACAxACA COVERED NOVEL MYLK-004 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000356464.1 3 29.161611 KEEP 0 0 0 97 2888 TT 1 1 0 - 13 60 437 0 0 26.335872 324 60 11606 532 ENST00000475616.1 0.038576 1 MYLK 4638 __UNKNOWN__ __UNKNOWN__ 3 123341997 123341997 __UNKNOWN__ Intron SNP T T C rs13318525 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:123341997T>C ENST00000475616.1 - 29 5238 MYLK_ENST00000418370.2_De_novo_Start_OutOfFrame|MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000346322.5_Intron|MYLK-AS1_ENST00000463408.1_RNA|MYLK_ENST00000360304.3_Intron|MYLK_ENST00000354792.5_Intron|MYLK_ENST00000359169.1_Intron|MYLK_ENST00000360772.3_Intron|MYLK-AS1_ENST00000470449.1_RNA Q15746 MYLK_HUMAN myosin light chain kinase NA NA actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820) cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725) ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687) NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) GCCCCCCATATATACCAGTAG 0.478 NA T||| 439 0.0876597 0.0484 0.0375 5008 , , NA 17668 0.2401 NA 0.0109 False NA ,,, NA NA NA 2504 0.0982 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X85337 CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1 3q21 2013-02-11 2008-01-23 ENSG00000065534 ENSG00000065534 4638 2.7.11.18 Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing 7590 protein-coding gene gene with protein product smooth muscle myosin light chain kinase 600922 myosin, light polypeptide kinase NA 8575746 Standard NM_053025 NM_053026 NA Approved MLCK, smMLCK, MYLK1, MLCK1 uc003ego.3 Q15746 OTTHUMG00000141304 ENST00000475616.1:c.5239-2814A>G chr3.hg19:g.123341997T>C NA B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9 hg19 CCDS46896.1 0.02 13.642878 ATAxATA COVERED NOVEL MYLK-004 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000356464.1 3 24.658763 KEEP 0 0 0 82 2438 TT 1 1 0 - 10 60 375 0 0 23.15395 296 60 10528 475 ENST00000475616.1 0.03268 1 MYLK 4638 __UNKNOWN__ __UNKNOWN__ 3 123357037 123357037 __UNKNOWN__ Silent SNP A A G rs820463 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:123357037A>G ENST00000475616.1 - 26 4841 c.4842T>C c.(4840-4842)aaT>aaC p.N1614N MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000346322.5_Silent_p.N1545N|MYLK_ENST00000360304.3_Silent_p.N1614N|MYLK_ENST00000354792.5_Silent_p.N414N|MYLK_ENST00000359169.1_Silent_p.N1614N|MYLK_ENST00000360772.3_Silent_p.N1614N Q15746 MYLK_HUMAN myosin light chain kinase 1614 Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}. NA actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820) cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725) ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687) NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) GAGACCCCGCATTCTCTGAAA 0.552 NA A||| 1875 0.374401 0.4743 0.3271 5008 , , NA 20106 0.6399 NA 0.0785 False NA ,,, NA NA NA 2504 0.3037 NA NA NA NA 0 A ,,, 1798,2608 529.2+/-372.6 372,1054,777 57 58 58 4842,4635,4842,4635 -0.1 1 3 dbSNP_86 58 776,7824 184.5+/-232.4 41,694,3565 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous MYLK NM_053025.3,NM_053026.3,NM_053027.3,NM_053028.3 ,,, 413,1748,4342 GG,GA,AA 9.0233,40.808,19.7909 ,,, 1614/1915,1545/1846,1614/1864,1545/1795 123357037 2574,10432 2203 4300 6503 SO:0001819 synonymous_variant X85337 CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1 3q21 2013-02-11 2008-01-23 ENSG00000065534 ENSG00000065534 4638 2.7.11.18 Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing 7590 protein-coding gene gene with protein product smooth muscle myosin light chain kinase 600922 myosin, light polypeptide kinase NA 8575746 Standard NM_053025 NM_053026 NA Approved MLCK, smMLCK, MYLK1, MLCK1 uc003ego.3 Q15746 OTTHUMG00000141304 ENST00000475616.1:c.4842T>C chr3.hg19:g.123357037A>G NA B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9 hg19 CCDS46896.1 0.02 2.522378 CGCxTTC COVERED NOVEL MYLK-004 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000356464.1 0 9.018618 KEEP 0 0 0 30 886 AA 0.999997 0.970818 0 - 4 60 159 0 0 11.650537 49 60 1773 105 ENST00000475616.1 0.075472 0.97082 MYLK 4638 __UNKNOWN__ __UNKNOWN__ 3 123357062 123357062 __UNKNOWN__ Intron SNP G G C rs820464 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:123357062G>C ENST00000475616.1 - 26 4837 MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000346322.5_Intron|MYLK_ENST00000360304.3_Intron|MYLK_ENST00000354792.5_Intron|MYLK_ENST00000359169.1_Intron|MYLK_ENST00000360772.3_Intron Q15746 MYLK_HUMAN myosin light chain kinase NA NA actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820) cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725) ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687) NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) GATGGAGAGGGATAAATTGCC 0.562 NA G||| 1877 0.3748 0.4758 0.3271 5008 , , NA 19564 0.6399 NA 0.0785 False NA ,,, NA NA NA 2504 0.3037 NA NA NA NA 0 G ,,, 1797,2609 527.0+/-372.0 372,1053,778 49 51 50 ,,, 0.6 0 3 dbSNP_86 50 774,7826 182.2+/-230.7 41,692,3567 no intron,intron,intron,intron MYLK NM_053025.3,NM_053026.3,NM_053027.3,NM_053028.3 ,,, 413,1745,4345 CC,CG,GG 9.0,40.7853,19.7678 ,,, ,,, 123357062 2571,10435 2203 4300 6503 SO:0001627 intron_variant X85337 CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1 3q21 2013-02-11 2008-01-23 ENSG00000065534 ENSG00000065534 4638 2.7.11.18 Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing 7590 protein-coding gene gene with protein product smooth muscle myosin light chain kinase 600922 myosin, light polypeptide kinase NA 8575746 Standard NM_053025 NM_053026 NA Approved MLCK, smMLCK, MYLK1, MLCK1 uc003ego.3 Q15746 OTTHUMG00000141304 ENST00000475616.1:c.4838-21C>G chr3.hg19:g.123357062G>C NA B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9 hg19 CCDS46896.1 0.02 -0.386024 AGGxATA COVERED NOVEL MYLK-004 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000356464.1 0 7.2224 KEEP 0 0 0 24 799 GG 0.999909 0.918088 0 - 4 60 155 0 0 11.58791 40 60 1513 85 ENST00000475616.1 0.090909 0.918171 CCDC14 64770 __UNKNOWN__ __UNKNOWN__ 3 123633220 123633220 __UNKNOWN__ 3'UTR SNP T T G rs2700372 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:123633220T>G ENST00000433542.2 - 0 3544 CCDC14_ENST00000310351.4_3'UTR|CCDC14_ENST00000489746.1_3'UTR|CCDC14_ENST00000488653.2_3'UTR|CCDC14_ENST00000485727.1_3'UTR NM_022757.4 NP_073594.4 Q49A88 CCD14_HUMAN coiled-coil domain containing 14 NA NA substantia nigra development (GO:0021762) centrosome (GO:0005813) NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10) 21 Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205) Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159) AAAGTATATGTAAACAGAAAA 0.308 NA G||| 2200 0.439297 0.6475 0.3934 5008 , , NA 15360 0.7748 NA 0.0268 False NA ,,, NA NA NA 2504 0.2689 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL122079 CCDS3025.2 3q21.1 2014-03-20 ENSG00000175455 ENSG00000175455 64770 25766 protein-coding gene gene with protein product NA 12477932 Standard NM_022757 NM_022757 NA Approved FLJ12892, DKFZp434L1050 uc010hrt.3 Q49A88 OTTHUMG00000153005 ENST00000433542.2:c.*406A>C chr3.hg19:g.123633220T>G NA B7Z2T2|B8ZZ41|B8ZZ58|D3DN98|Q7Z3N3|Q86T30|Q8IWF8|Q8WUJ8|Q96K47|Q9H9A3|Q9UFH0 hg19 CCDS3025.2 0.02 9.655213 ATGxAAA COVERED NOVEL CCDC14-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000328943.4 2 13.535694 KEEP 0 0 0 45 1303 TT 1 1 0 - 12 60 446 0 0 30.248101 203 60 6958 310 ENST00000433542.2 0.055814 1 CCDC14 64770 __UNKNOWN__ __UNKNOWN__ 3 123633241 123633241 __UNKNOWN__ 3'UTR SNP C C A rs147520033 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:123633241C>A ENST00000433542.2 - 0 3523 CCDC14_ENST00000310351.4_3'UTR|CCDC14_ENST00000489746.1_3'UTR|CCDC14_ENST00000488653.2_3'UTR|CCDC14_ENST00000485727.1_3'UTR NM_022757.4 NP_073594.4 Q49A88 CCD14_HUMAN coiled-coil domain containing 14 NA NA substantia nigra development (GO:0021762) centrosome (GO:0005813) NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10) 21 Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205) Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159) AAAAAACCCTCTAGTTTCAAC 0.338 NA C||| 9 0.00179712 0.0 0.0 5008 , , NA 15306 0.0089 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL122079 CCDS3025.2 3q21.1 2014-03-20 ENSG00000175455 ENSG00000175455 64770 25766 protein-coding gene gene with protein product NA 12477932 Standard NM_022757 NM_022757 NA Approved FLJ12892, DKFZp434L1050 uc010hrt.3 Q49A88 OTTHUMG00000153005 ENST00000433542.2:c.*385G>T chr3.hg19:g.123633241C>A NA B7Z2T2|B8ZZ41|B8ZZ58|D3DN98|Q7Z3N3|Q86T30|Q8IWF8|Q8WUJ8|Q96K47|Q9H9A3|Q9UFH0 hg19 CCDS3025.2 0.02 9.318869 CCTxTAG COVERED NOVEL CCDC14-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000328943.4 1 16.25117 KEEP 0 0 0 54 1904 CC 1 1 0 - 11 60 365 0 0 22.098035 243 70 8851 378 ENST00000433542.2 0.043307 1 CCDC14 64770 __UNKNOWN__ __UNKNOWN__ 3 123680214 123680214 __UNKNOWN__ 5'UTR SNP T T G rs551325493 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:123680214T>G ENST00000433542.2 - 0 350 CCDC14_ENST00000488653.2_5'UTR NM_022757.4 NP_073594.4 Q49A88 CCD14_HUMAN coiled-coil domain containing 14 NA NA substantia nigra development (GO:0021762) centrosome (GO:0005813) NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10) 21 Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205) Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159) GCCCAGCGCCTTGGGCGTACG 0.657 NA T||| 12 0.00239617 0.0 0.0 5008 , , NA 10832 0.0099 NA 0.0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 5 6 6 NA NA 3 NA 123680214 682 1566 2248 SO:0001623 5_prime_UTR_variant AL122079 CCDS3025.2 3q21.1 2014-03-20 ENSG00000175455 ENSG00000175455 64770 25766 protein-coding gene gene with protein product NA 12477932 Standard NM_022757 NM_022757 NA Approved FLJ12892, DKFZp434L1050 uc010hrt.3 Q49A88 OTTHUMG00000153005 ENST00000433542.2:c.-50A>C chr3.hg19:g.123680214T>G NA B7Z2T2|B8ZZ41|B8ZZ58|D3DN98|Q7Z3N3|Q86T30|Q8IWF8|Q8WUJ8|Q96K47|Q9H9A3|Q9UFH0 hg19 CCDS3025.2 0.02 20.693926 GCCxTGG COVERED NOVEL CCDC14-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000328943.4 1 56.271265 KEEP 0 0 0 187 5949 TT 1 1 0 - 16 60 528 0 0 28.611997 573 60 20887 1027 ENST00000433542.2 0.027165 1 ROPN1 54763 __UNKNOWN__ __UNKNOWN__ 3 123688743 123688743 __UNKNOWN__ Intron SNP G G C rs12637464 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:123688743G>C ENST00000184183.4 - 6 913 ROPN1_ENST00000405845.3_Intron NM_017578.2 NP_060048.2 Q9HAT0 ROP1A_HUMAN rhophilin associated tail protein 1 NA NA cytoplasm (GO:0005737)|nucleus (GO:0005634) lung(2)|ovary(1)|skin(1) 4 GBM - Glioblastoma multiforme(114;0.148) tccctttcccgttttctttcA 0.388 NA C||| 2076 0.414537 0.5696 0.3919 5008 , , NA 21154 0.7619 NA 0.0258 False NA ,,, NA NA NA 2504 0.2628 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF231410 CCDS3026.1 3q21.1 2011-01-20 2011-01-20 ENSG00000065371 54763 17692 protein-coding gene gene with protein product cancer/testis antigen 91 611757 ropporin, rhophilin associated protein 1 NA 10591629 Standard NM_017578 NM_017578 NA Approved ODF6, ropporin, ROPN1A, CT91 uc003eha.3 Q9HAT0 ENST00000184183.4:c.572+145C>G chr3.hg19:g.123688743G>C NA D3DN99|Q9UF38 hg19 CCDS3026.1 0.02 6.011645 CCCxTTT COVERED NOVEL ROPN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000356188.2 4 3.00869 KEEP 0 0 0 10 303 GG 0.992708 0.992708 0 - 14 60 475 0 0 32.317546 186 60 5885 211 ENST00000184183.4 0.07 1 ROPN1 54763 __UNKNOWN__ __UNKNOWN__ 3 123697470 123697470 __UNKNOWN__ Intron SNP A A G rs28664167 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:123697470A>G ENST00000184183.4 - 4 457 ROPN1_ENST00000405845.3_Intron NM_017578.2 NP_060048.2 Q9HAT0 ROP1A_HUMAN rhophilin associated tail protein 1 NA NA cytoplasm (GO:0005737)|nucleus (GO:0005634) lung(2)|ovary(1)|skin(1) 4 GBM - Glioblastoma multiforme(114;0.148) AGGTTTCTTCATTGACAACAC 0.358 NA A||| 2133 0.425919 0.6354 0.3977 5008 , , NA 21067 0.7808 NA 0.0258 False NA ,,, NA NA NA 2504 0.2086 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF231410 CCDS3026.1 3q21.1 2011-01-20 2011-01-20 ENSG00000065371 54763 17692 protein-coding gene gene with protein product cancer/testis antigen 91 611757 ropporin, rhophilin associated protein 1 NA 10591629 Standard NM_017578 NM_017578 NA Approved ODF6, ropporin, ROPN1A, CT91 uc003eha.3 Q9HAT0 ENST00000184183.4:c.117-1642T>C chr3.hg19:g.123697470A>G NA D3DN99|Q9UF38 hg19 CCDS3026.1 0.02 4.724019 TTCxTTG COVERED NOVEL ROPN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000356188.2 4 6.318226 KEEP 85 0 0 21 642 AA 0.993072 0.993072 0 - 7 60 218 0 0 12.009602 192 60 7056 297 ENST00000184183.4 0.035176 1 ROPN1 54763 __UNKNOWN__ __UNKNOWN__ 3 123698903 123698903 __UNKNOWN__ 3'UTR SNP G G A rs3732482 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:123698903G>A ENST00000495093.1 - 0 736 ROPN1_ENST00000479867.1_3'UTR|ROPN1_ENST00000405845.3_Intron|ROPN1_ENST00000184183.4_Intron|ROPN1_ENST00000459660.1_3'UTR Q9HAT0 ROP1A_HUMAN rhophilin associated tail protein 1 NA NA cytoplasm (GO:0005737)|nucleus (GO:0005634) lung(2)|ovary(1)|skin(1) 4 GBM - Glioblastoma multiforme(114;0.148) GGCGTGCAGGGAGGAGGTGGG 0.572 NA G||| 1060 0.211661 0.3684 0.1412 5008 , , NA 18852 0.3452 NA 0.0119 False NA ,,, NA NA NA 2504 0.1176 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF231410 CCDS3026.1 3q21.1 2011-01-20 2011-01-20 ENSG00000065371 54763 17692 protein-coding gene gene with protein product cancer/testis antigen 91 611757 ropporin, rhophilin associated protein 1 NA 10591629 Standard NM_017578 NM_017578 NA Approved ODF6, ropporin, ROPN1A, CT91 uc003eha.3 Q9HAT0 ENST00000495093.1:c.*249C>T chr3.hg19:g.123698903G>A NA D3DN99|Q9UF38 hg19 0.02 25.187331 AGGxAGG COVERED NOVEL ROPN1-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000356222.2 3 24.678382 KEEP 12 0 0 82 2835 GG 1 1 0 - 18 60 649 0 0 38.392091 583 60 21257 790 ENST00000495093.1 0.02995 1 ROPN1 54763 __UNKNOWN__ __UNKNOWN__ 3 123699145 123699145 __UNKNOWN__ 3'UTR SNP C C T rs7621884 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:123699145C>T ENST00000495093.1 - 0 494 ROPN1_ENST00000479867.1_3'UTR|ROPN1_ENST00000405845.3_Intron|ROPN1_ENST00000184183.4_Intron|ROPN1_ENST00000459660.1_3'UTR Q9HAT0 ROP1A_HUMAN rhophilin associated tail protein 1 NA NA cytoplasm (GO:0005737)|nucleus (GO:0005634) lung(2)|ovary(1)|skin(1) 4 GBM - Glioblastoma multiforme(114;0.148) TGACAACCTCCGCGGTTTTAC 0.542 NA C||| 1086 0.216853 0.3691 0.1412 5008 , , NA 19516 0.3601 NA 0.0119 False NA ,,, NA NA NA 2504 0.1278 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF231410 CCDS3026.1 3q21.1 2011-01-20 2011-01-20 ENSG00000065371 54763 17692 protein-coding gene gene with protein product cancer/testis antigen 91 611757 ropporin, rhophilin associated protein 1 NA 10591629 Standard NM_017578 NM_017578 NA Approved ODF6, ropporin, ROPN1A, CT91 uc003eha.3 Q9HAT0 ENST00000495093.1:c.*7G>A chr3.hg19:g.123699145C>T NA D3DN99|Q9UF38 hg19 0.02 37.695383 CTCxGCG COVERED NOVEL ROPN1-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000356222.2 6 51.164995 KEEP 0 0 0 170 5918 CC 1 1 0 - 35 60 1277 0 0 81.414431 798 60 28023 1217 ENST00000495093.1 0.042017 1 KALRN 8997 __UNKNOWN__ __UNKNOWN__ 3 124048764 124048764 __UNKNOWN__ Silent SNP C C T rs2276740 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:124048764C>T ENST00000240874.3 + 8 1492 c.1335C>T c.(1333-1335)tcC>tcT p.S445S KALRN_ENST00000360013.3_Silent_p.S445S|KALRN_ENST00000460856.1_Silent_p.S445S NM_003947.4 NP_003938.1 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 445 NA apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192) actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 GTCTGCCATCCGAGATGCAAG 0.577 NA C||| 605 0.120807 0.1611 0.0951 5008 , , NA 17215 0.1488 NA 0.0825 False NA ,,, NA NA NA 2504 0.0951 NA NA NA NA 0 C , 639,3767 276.6+/-273.2 48,543,1612 137 111 120 1335,1335 -7.5 0.2 3 dbSNP_100 120 691,7909 172.5+/-223.2 38,615,3647 no coding-synonymous,coding-synonymous KALRN NM_001024660.3,NM_003947.4 , 86,1158,5259 TT,TC,CC 8.0349,14.503,10.226 , 445/2987,445/1664 124048764 1330,11676 2203 4300 6503 SO:0001819 synonymous_variant U94190 CCDS3027.1, CCDS3028.1 3q21.2 2013-02-11 2005-03-11 2005-03-12 ENSG00000160145 ENSG00000160145 8997 Rho guanine nucleotide exchange factors, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing 4814 protein-coding gene gene with protein product serine/threonine kinase with Dbl and pleckstrin homology domains 604605 huntingtin-associated protein interacting protein (duo) HAPIP NA 9285789, 10023074 Standard NM_003947 NM_001024660 NA Approved duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24 uc003ehd.3 O60229 OTTHUMG00000125545 ENST00000240874.3:c.1335C>T chr3.hg19:g.124048764C>T NA A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5 hg19 CCDS3027.1 0.02 18.916265 ATCxGAG COVERED 259 0.11858974358974358 75 0.1524390243902439 39 0.10773480662983426 88 0.15384615384615385 57 0.07519788918205805 C 5.149 0.213145 0.09757 0.14503 0.080349 ENSG00000160145 ENST00000354186 . . . 5.0 -7.46 0.01369 . . . . . T 0.00328 0.0010 . . . 0.09310 P 0.9999999999999927 . . . . . . T 0.27400 -1.0075 3 . . . . 15.2128 0.73238 0.0998:0.101:0.0:0.7992 rs2276740;rs2276740 . . . L 423 . . P + 2 0 KALRN 125531454 0.000000 0.05858 0.212000 0.23672 0.672000 0.39443 -5.326000 0.00131 -1.551000 0.01706 -0.751000 0.03497 CCG NOVEL KALRN-005 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000258843.4 5 13.241315 KEEP 0 0 0 44 1447 CC 1 1 0 + 27 60 980 0 0 67.756332 382 60 12797 502 ENST00000240874.3 0.066015 1 KALRN 8997 __UNKNOWN__ __UNKNOWN__ 3 124065887 124065887 __UNKNOWN__ Intron SNP G G A rs12496590 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:124065887G>A ENST00000240874.3 + 10 1798 KALRN_ENST00000360013.3_Intron|KALRN_ENST00000460856.1_Intron NM_003947.4 NP_003938.1 O60229 KALRN_HUMAN kalirin, RhoGEF kinase NA NA apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192) actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 TTTACAACTGGGATGGGATAT 0.438 NA G||| 148 0.0295527 0.0008 0.0303 5008 , , NA 21989 0.1181 NA 0.004 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U94190 CCDS3027.1, CCDS3028.1 3q21.2 2013-02-11 2005-03-11 2005-03-12 ENSG00000160145 ENSG00000160145 8997 Rho guanine nucleotide exchange factors, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing 4814 protein-coding gene gene with protein product serine/threonine kinase with Dbl and pleckstrin homology domains 604605 huntingtin-associated protein interacting protein (duo) HAPIP NA 9285789, 10023074 Standard NM_003947 NM_001024660 NA Approved duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24 uc003ehd.3 O60229 OTTHUMG00000125545 ENST00000240874.3:c.1642-103G>A chr3.hg19:g.124065887G>A NA A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5 hg19 CCDS3027.1 0.02 6.734151 CTGxGAT COVERED NOVEL KALRN-005 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000258843.4 1 4.815819 KEEP 0 0 0 16 575 GG 0.997832 0.997832 0 + 8 60 288 0 0 18.764772 155 60 5530 193 ENST00000240874.3 0.04908 1 KALRN 8997 __UNKNOWN__ __UNKNOWN__ 3 124129041 124129041 __UNKNOWN__ Intron SNP C C G rs138113158 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:124129041C>G ENST00000240874.3 + 14 2497 KALRN_ENST00000360013.3_Intron|KALRN_ENST00000460856.1_Intron NM_003947.4 NP_003938.1 O60229 KALRN_HUMAN kalirin, RhoGEF kinase NA NA apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192) actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 ACGTGACTCTCTTCTCCCTCA 0.473 NA G||| 93 0.0185703 0.0008 0.0086 5008 , , NA 17238 0.0734 NA 0.0099 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 G , 3,1749 0,3,873 39 35 36 , 0.1 0 3 dbSNP_134 36 56,3926 0,56,1935 no intron,intron KALRN NM_001024660.3,NM_003947.4 , 0,59,2808 GG,GC,CC 1.4063,0.1712,1.029 , , 124129041 59,5675 876 1991 2867 SO:0001627 intron_variant U94190 CCDS3027.1, CCDS3028.1 3q21.2 2013-02-11 2005-03-11 2005-03-12 ENSG00000160145 ENSG00000160145 8997 Rho guanine nucleotide exchange factors, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing 4814 protein-coding gene gene with protein product serine/threonine kinase with Dbl and pleckstrin homology domains 604605 huntingtin-associated protein interacting protein (duo) HAPIP NA 9285789, 10023074 Standard NM_003947 NM_001024660 NA Approved duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24 uc003ehd.3 O60229 OTTHUMG00000125545 ENST00000240874.3:c.2341-3276C>G chr3.hg19:g.124129041C>G NA A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5 hg19 CCDS3027.1 0.02 9.535326 TCTxTTC COVERED NOVEL KALRN-005 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000258843.4 4 13.845255 KEEP 0 0 0 46 1640 CC 1 1 0 + 9 60 352 0 0 22.863345 229 60 8781 369 ENST00000240874.3 0.037815 1 KALRN 8997 __UNKNOWN__ __UNKNOWN__ 3 124157806 124157806 __UNKNOWN__ Silent SNP G G A rs2289837 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:124157806G>A ENST00000240874.3 + 18 3271 c.3114G>A c.(3112-3114)aaG>aaA p.K1038K KALRN_ENST00000360013.3_Silent_p.K1038K|KALRN_ENST00000460856.1_Silent_p.K1029K NM_003947.4 NP_003938.1 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 1038 NA apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192) actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 GACGAGATAAGCTGGGGCCAG 0.483 NA G||| 96 0.0191693 0.0015 0.0086 5008 , , NA 17643 0.0754 NA 0.0099 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 G , 15,4391 22.3+/-47.3 0,15,2188 202 189 193 3114,3114 -0.9 1 3 dbSNP_100 193 112,8488 60.2+/-122.0 0,112,4188 no coding-synonymous,coding-synonymous KALRN NM_001024660.3,NM_003947.4 , 0,127,6376 AA,AG,GG 1.3023,0.3404,0.9765 , 1038/2987,1038/1664 124157806 127,12879 2203 4300 6503 SO:0001819 synonymous_variant U94190 CCDS3027.1, CCDS3028.1 3q21.2 2013-02-11 2005-03-11 2005-03-12 ENSG00000160145 ENSG00000160145 8997 Rho guanine nucleotide exchange factors, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing 4814 protein-coding gene gene with protein product serine/threonine kinase with Dbl and pleckstrin homology domains 604605 huntingtin-associated protein interacting protein (duo) HAPIP NA 9285789, 10023074 Standard NM_003947 NM_001024660 NA Approved duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24 uc003ehd.3 O60229 OTTHUMG00000125545 ENST00000240874.3:c.3114G>A chr3.hg19:g.124157806G>A NA A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5 hg19 CCDS3027.1 0.02 8.442829 TAAxCTG COVERED 57 0.0260989010989011 0 0.0 2 0.0055248618784530384 48 0.08391608391608392 7 0.009234828496042216 G 9.904 1.207658 0.22205 0.003404 0.013023 ENSG00000160145 ENST00000354186 . . . 5.44 -0.928 0.10448 . . . . . T 0.06735 0.0172 . . . 0.80722 D 1 . . . . . . T 0.16305 -1.0407 4 . . . . 12.1237 0.53905 0.467:0.0:0.533:0.0 rs2289837;rs58833499;rs2289837 . . . N 1007 . . S + 2 0 KALRN 125640496 0.995000 0.38212 0.989000 0.46669 0.995000 0.86356 0.697000 0.25556 -0.289000 0.09038 -0.302000 0.09304 AGC NOVEL KALRN-005 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000258843.4 2 13.845211 KEEP 0 0 0 46 1663 GG 1 1 0 + 12 60 433 0 0 28.593105 217 70 8268 342 ENST00000240874.3 0.052402 1 KALRN 8997 __UNKNOWN__ __UNKNOWN__ 3 124181261 124181261 __UNKNOWN__ Intron SNP C C T rs535121 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:124181261C>T ENST00000240874.3 + 25 4072 KALRN_ENST00000360013.3_Intron|KALRN_ENST00000460856.1_Intron NM_003947.4 NP_003938.1 O60229 KALRN_HUMAN kalirin, RhoGEF kinase NA NA apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192) actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 AAACTCTGCACGCATTTACAG 0.368 NA T||| 770 0.153754 0.2443 0.1009 5008 , , NA 20467 0.0764 NA 0.1193 False NA ,,, NA NA NA 2504 0.184 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U94190 CCDS3027.1, CCDS3028.1 3q21.2 2013-02-11 2005-03-11 2005-03-12 ENSG00000160145 ENSG00000160145 8997 Rho guanine nucleotide exchange factors, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing 4814 protein-coding gene gene with protein product serine/threonine kinase with Dbl and pleckstrin homology domains 604605 huntingtin-associated protein interacting protein (duo) HAPIP NA 9285789, 10023074 Standard NM_003947 NM_001024660 NA Approved duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24 uc003ehd.3 O60229 OTTHUMG00000125545 ENST00000240874.3:c.3916-110C>T chr3.hg19:g.124181261C>T NA A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5 hg19 CCDS3027.1 0.02 8.73604 GCAxGCA COVERED NOVEL KALRN-005 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000258843.4 2 12.941923 KEEP 0 0 0 43 1498 CC 1 1 0 + 10 60 373 0 0 24.681534 197 60 7153 304 ENST00000240874.3 0.048309 1 KALRN 8997 __UNKNOWN__ __UNKNOWN__ 3 124351229 124351229 __UNKNOWN__ Intron SNP C C G rs3816201 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:124351229C>G ENST00000291478.5 + 2 248 KALRN_ENST00000393496.1_Intron|KALRN_ENST00000428018.2_Intron|KALRN_ENST00000360013.3_Intron NM_007064.3 NP_008995.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase NA NA apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192) actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 CCTGCCTTCACCACCTCTGAC 0.567 NA c||| 392 0.0782748 0.0038 0.0418 5008 , , NA 18314 0.2063 NA 0.0666 False NA ,,, NA NA NA 2504 0.0849 NA NA NA NA 0 , 47,4359 45.3+/-79.5 1,45,2157 50 52 51 , 1.3 0 3 dbSNP_107 51 411,8189 128.3+/-186.6 9,393,3898 no intron,intron KALRN NM_001024660.3,NM_007064.3 , 10,438,6055 GG,GC,CC 4.7791,1.0667,3.5215 , , 124351229 458,12548 2203 4300 6503 SO:0001627 intron_variant U94190 CCDS3027.1, CCDS3028.1 3q21.2 2013-02-11 2005-03-11 2005-03-12 ENSG00000160145 ENSG00000160145 8997 Rho guanine nucleotide exchange factors, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing 4814 protein-coding gene gene with protein product serine/threonine kinase with Dbl and pleckstrin homology domains 604605 huntingtin-associated protein interacting protein (duo) HAPIP NA 9285789, 10023074 Standard NM_003947 NM_001024660 NA Approved duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24 uc003ehd.3 O60229 OTTHUMG00000125545 ENST00000291478.5:c.86-38C>G chr3.hg19:g.124351229C>G NA A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5 hg19 CCDS3028.1 0.02 8.821567 TCAxCAC COVERED NOVEL KALRN-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000246891.5 1 14.445942 KEEP 0 0 0 48 1647 CC 1 1 0 + 7 60 264 0 0 16.273685 213 60 7894 317 ENST00000291478.5 0.031818 1 KALRN 8997 __UNKNOWN__ __UNKNOWN__ 3 124369650 124369650 __UNKNOWN__ Intron SNP T T C rs2291988 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:124369650T>C ENST00000291478.5 + 5 733 KALRN_ENST00000393496.1_Intron|KALRN_ENST00000428018.2_Intron|KALRN_ENST00000360013.3_Intron|KALRN_ENST00000459915.1_Intron NM_007064.3 NP_008995.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase NA NA apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192) actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 TTTCTCTCTTTTCAGAGTCTA 0.498 NA T||| 1308 0.261182 0.1649 0.2608 5008 , , NA 20432 0.4345 NA 0.2763 False NA ,,, NA NA NA 2504 0.1973 NA NA NA NA 0 T , 659,3747 277.8+/-273.9 45,569,1589 58 66 63 , 4.9 1 3 dbSNP_100 63 2228,6372 378.0+/-338.7 284,1660,2356 no intron,intron KALRN NM_001024660.3,NM_007064.3 , 329,2229,3945 CC,CT,TT 25.907,14.9569,22.1974 , , 124369650 2887,10119 2203 4300 6503 SO:0001627 intron_variant U94190 CCDS3027.1, CCDS3028.1 3q21.2 2013-02-11 2005-03-11 2005-03-12 ENSG00000160145 ENSG00000160145 8997 Rho guanine nucleotide exchange factors, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing 4814 protein-coding gene gene with protein product serine/threonine kinase with Dbl and pleckstrin homology domains 604605 huntingtin-associated protein interacting protein (duo) HAPIP NA 9285789, 10023074 Standard NM_003947 NM_001024660 NA Approved duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24 uc003ehd.3 O60229 OTTHUMG00000125545 ENST00000291478.5:c.571-5T>C chr3.hg19:g.124369650T>C NA A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5 hg19 CCDS3028.1 0.02 17.533859 CTTxTCA COVERED NOVEL KALRN-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000246891.5 1 20.459886 KEEP 0 0 0 68 2121 TT 1 1 0 + 13 60 478 0 0 29.035757 393 70 14021 578 ENST00000291478.5 0.03202 1 KALRN 8997 __UNKNOWN__ __UNKNOWN__ 3 124374405 124374405 __UNKNOWN__ Intron SNP A A C rs4677939 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:124374405A>C ENST00000291478.5 + 6 864 KALRN_ENST00000393496.1_Intron|KALRN_ENST00000428018.2_Intron|KALRN_ENST00000360013.3_Intron|KALRN_ENST00000459915.1_Intron NM_007064.3 NP_008995.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase NA NA apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192) actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 TTTTTGGCTTAACAATGAAGA 0.408 NA A||| 1335 0.266573 0.2118 0.255 5008 , , NA 22297 0.4048 NA 0.2763 False NA ,,, NA NA NA 2504 0.1963 NA NA NA NA 0 A , 788,3618 318.5+/-295.7 68,652,1483 92 91 91 , 0.4 0 3 dbSNP_111 91 2231,6369 379.4+/-339.3 283,1665,2352 no intron,intron KALRN NM_001024660.3,NM_007064.3 , 351,2317,3835 CC,CA,AA 25.9419,17.8847,23.2124 , , 124374405 3019,9987 2203 4300 6503 SO:0001627 intron_variant U94190 CCDS3027.1, CCDS3028.1 3q21.2 2013-02-11 2005-03-11 2005-03-12 ENSG00000160145 ENSG00000160145 8997 Rho guanine nucleotide exchange factors, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing 4814 protein-coding gene gene with protein product serine/threonine kinase with Dbl and pleckstrin homology domains 604605 huntingtin-associated protein interacting protein (duo) HAPIP NA 9285789, 10023074 Standard NM_003947 NM_001024660 NA Approved duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24 uc003ehd.3 O60229 OTTHUMG00000125545 ENST00000291478.5:c.702-43A>C chr3.hg19:g.124374405A>C NA A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5 hg19 CCDS3028.1 0.02 9.10402 CTTxACA COVERED NOVEL KALRN-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000246891.5 0 11.433356 KEEP 0 0 0 38 1174 AA 1 1 0 + 7 60 270 0 0 16.845502 215 60 7734 318 ENST00000291478.5 0.031532 1 KALRN 8997 __UNKNOWN__ __UNKNOWN__ 3 124376510 124376510 __UNKNOWN__ Intron SNP A A T rs2289426 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:124376510A>T ENST00000291478.5 + 8 1035 KALRN_ENST00000393496.1_Intron|KALRN_ENST00000428018.2_Intron|KALRN_ENST00000360013.3_Intron|KALRN_ENST00000459915.1_Intron NM_007064.3 NP_008995.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase NA NA apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192) actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 TCTGTAATTCATCTTATTATT 0.443 NA A||| 535 0.106829 0.003 0.1311 5008 , , NA 18669 0.379 NA 0.0258 False NA ,,, NA NA NA 2504 0.0327 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U94190 CCDS3027.1, CCDS3028.1 3q21.2 2013-02-11 2005-03-11 2005-03-12 ENSG00000160145 ENSG00000160145 8997 Rho guanine nucleotide exchange factors, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing 4814 protein-coding gene gene with protein product serine/threonine kinase with Dbl and pleckstrin homology domains 604605 huntingtin-associated protein interacting protein (duo) HAPIP NA 9285789, 10023074 Standard NM_003947 NM_001024660 NA Approved duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24 uc003ehd.3 O60229 OTTHUMG00000125545 ENST00000291478.5:c.873-71A>T chr3.hg19:g.124376510A>T NA A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5 hg19 CCDS3028.1 0.02 11.649442 TTCxTCT COVERED NOVEL KALRN-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000246891.5 5 9.628358 KEEP 0 0 0 32 983 AA 0.999997 0.999997 0 + 12 60 438 0 0 28.407309 249 60 8963 307 ENST00000291478.5 0.045977 1 KALRN 8997 __UNKNOWN__ __UNKNOWN__ 3 124376653 124376653 __UNKNOWN__ Intron SNP G G A rs106520 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:124376653G>A ENST00000291478.5 + 8 1105 KALRN_ENST00000393496.1_Intron|KALRN_ENST00000428018.2_Intron|KALRN_ENST00000360013.3_Intron|KALRN_ENST00000459915.1_Intron NM_007064.3 NP_008995.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase NA NA apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192) actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 TTAAGCACGTGAGTGTCTCCC 0.458 NA G||| 1813 0.362021 0.1649 0.3905 5008 , , NA 19239 0.7867 NA 0.3052 False NA ,,, NA NA NA 2504 0.229 NA NA NA NA 0 G , 747,3659 306.9+/-289.7 74,599,1530 107 107 107 , 5.7 1 3 dbSNP_79 107 2275,6325 384.8+/-341.3 295,1685,2320 no intron,intron KALRN NM_001024660.3,NM_007064.3 , 369,2284,3850 AA,AG,GG 26.4535,16.9542,23.2354 , , 124376653 3022,9984 2203 4300 6503 SO:0001627 intron_variant U94190 CCDS3027.1, CCDS3028.1 3q21.2 2013-02-11 2005-03-11 2005-03-12 ENSG00000160145 ENSG00000160145 8997 Rho guanine nucleotide exchange factors, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing 4814 protein-coding gene gene with protein product serine/threonine kinase with Dbl and pleckstrin homology domains 604605 huntingtin-associated protein interacting protein (duo) HAPIP NA 9285789, 10023074 Standard NM_003947 NM_001024660 NA Approved duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24 uc003ehd.3 O60229 OTTHUMG00000125545 ENST00000291478.5:c.942+3G>A chr3.hg19:g.124376653G>A NA A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5 hg19 CCDS3028.1 0.02 13.119887 CGTxAGT COVERED NOVEL KALRN-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000246891.5 1 15.045482 KEEP 0 0 0 50 1638 GG 1 1 0 + 24 60 872 0 0 61.640743 296 60 11277 439 ENST00000291478.5 0.075 1 KALRN 8997 __UNKNOWN__ __UNKNOWN__ 3 124380793 124380793 __UNKNOWN__ Intron SNP C C T rs665927 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:124380793C>T ENST00000291478.5 + 12 1414 KALRN_ENST00000393496.1_Intron|KALRN_ENST00000428018.2_Intron|KALRN_ENST00000360013.3_Intron|KALRN_ENST00000459915.1_Intron NM_007064.3 NP_008995.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase NA NA apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192) actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 TTTAAGAATGCGTCTAAGCCC 0.517 NA C||| 1422 0.283946 0.5318 0.1758 5008 , , NA 18994 0.1905 NA 0.2445 False NA ,,, NA NA NA 2504 0.1626 NA NA NA NA 0 C , 2058,2348 568.8+/-382.5 482,1094,627 133 118 123 , -2.5 0 3 dbSNP_83 123 1805,6795 325.2+/-316.8 193,1419,2688 no intron,intron KALRN NM_001024660.3,NM_007064.3 , 675,2513,3315 TT,TC,CC 20.9884,46.709,29.7017 , , 124380793 3863,9143 2203 4300 6503 SO:0001627 intron_variant U94190 CCDS3027.1, CCDS3028.1 3q21.2 2013-02-11 2005-03-11 2005-03-12 ENSG00000160145 ENSG00000160145 8997 Rho guanine nucleotide exchange factors, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing 4814 protein-coding gene gene with protein product serine/threonine kinase with Dbl and pleckstrin homology domains 604605 huntingtin-associated protein interacting protein (duo) HAPIP NA 9285789, 10023074 Standard NM_003947 NM_001024660 NA Approved duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24 uc003ehd.3 O60229 OTTHUMG00000125545 ENST00000291478.5:c.1251+18C>T chr3.hg19:g.124380793C>T NA A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5 hg19 CCDS3028.1 0.02 2.000279 ATGxGTC COVERED NOVEL KALRN-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000246891.5 1 5.716758 KEEP 0 0 0 19 598 CC 0.99986 0.994944 0 + 4 60 149 0 0 10.230035 63 60 2089 98 ENST00000291478.5 0.059701 0.995084 KALRN 8997 __UNKNOWN__ __UNKNOWN__ 3 124396338 124396338 __UNKNOWN__ 5'UTR SNP T T G rs333349 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:124396338T>G ENST00000462213.1 + 0 152 KALRN_ENST00000360013.3_Intron|KALRN_ENST00000291478.5_Intron|KALRN_ENST00000428018.2_Intron O60229 KALRN_HUMAN kalirin, RhoGEF kinase NA NA apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192) actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 CACACATTAGTTCTTGTCCCA 0.448 NA G||| 2459 0.491014 0.5461 0.4467 5008 , , NA 22506 0.501 NA 0.5417 False NA ,,, NA NA NA 2504 0.3855 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant U94190 CCDS3027.1, CCDS3028.1 3q21.2 2013-02-11 2005-03-11 2005-03-12 ENSG00000160145 ENSG00000160145 8997 Rho guanine nucleotide exchange factors, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing 4814 protein-coding gene gene with protein product serine/threonine kinase with Dbl and pleckstrin homology domains 604605 huntingtin-associated protein interacting protein (duo) HAPIP NA 9285789, 10023074 Standard NM_003947 NM_001024660 NA Approved duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24 uc003ehd.3 O60229 OTTHUMG00000125545 ENST00000462213.1:c.-73T>G chr3.hg19:g.124396338T>G NA A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5 hg19 0.02 22.549053 TAGxTCT COVERED NOVEL KALRN-016 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000356377.1 1 10.231068 KEEP 0 0 0 34 1093 TT 0.999998 0.999998 0 + 17 60 635 0 0 38.842805 522 60 18648 677 ENST00000462213.1 0.03154 1 KALRN 8997 __UNKNOWN__ __UNKNOWN__ 3 124438329 124438329 __UNKNOWN__ 3'UTR SNP C C T rs4234221 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:124438329C>T ENST00000291478.5 + 0 4045 KALRN_ENST00000360013.3_3'UTR|KALRN_ENST00000428018.2_3'UTR NM_007064.3 NP_008995.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase NA NA apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192) actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 CATCTCCCAGCCCCTATGGTT 0.468 NA C||| 1000 0.199681 0.3094 0.196 5008 , , NA 22030 0.1429 NA 0.1064 False NA ,,, NA NA NA 2504 0.2086 NA NA NA NA 0 C , 1122,3116 160,802,1157 28 28 28 , 0.3 0 3 dbSNP_111 28 1168,7290 95,978,3156 no utr-3,utr-3 KALRN NM_001024660.3,NM_007064.3 , 255,1780,4313 TT,TC,CC 13.8094,26.4748,18.0372 , , 124438329 2290,10406 2119 4229 6348 SO:0001624 3_prime_UTR_variant U94190 CCDS3027.1, CCDS3028.1 3q21.2 2013-02-11 2005-03-11 2005-03-12 ENSG00000160145 ENSG00000160145 8997 Rho guanine nucleotide exchange factors, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing 4814 protein-coding gene gene with protein product serine/threonine kinase with Dbl and pleckstrin homology domains 604605 huntingtin-associated protein interacting protein (duo) HAPIP NA 9285789, 10023074 Standard NM_003947 NM_001024660 NA Approved duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24 uc003ehd.3 O60229 OTTHUMG00000125545 ENST00000291478.5:c.*12C>T chr3.hg19:g.124438329C>T NA A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5 hg19 CCDS3028.1 0.02 6.812708 CAGxCCC COVERED NOVEL KALRN-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000246891.5 2 5.116646 KEEP 0 0 0 17 596 CC 0.999366 0.999366 0 + 7 60 259 0 0 16.898926 146 60 5294 184 ENST00000291478.5 0.045752 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 124449148 124449148 __UNKNOWN__ IGR SNP G G A rs2279197 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:124449148G>A NA NA RP11-71H17.7 (3976 upstream) : UMPS (64 downstream) NA NA NA ACTGGCGCTAGGTTCGCTACC 0.592 NA G||| 882 0.176118 0.1188 0.2608 5008 , , NA 16112 0.1677 NA 0.1491 False NA ,,, NA NA NA 2504 0.2301 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.124449148G>A NA hg19 0.02 9.382946 CTAxGTT COVERED NOVEL 0 1 42.739145 KEEP 0 0 0 142 5134 GG 1 1 0 12 60 459 0 0 30.786007 235 60 8956 509 0.048583 1 UMPS 7372 __UNKNOWN__ __UNKNOWN__ 3 124451312 124451312 __UNKNOWN__ Intron SNP T T G rs10934682 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:124451312T>G ENST00000232607.2 + 1 262 UMPS_ENST00000413078.2_Intron|UMPS_ENST00000538242.1_Intron|UMPS_ENST00000536109.1_Intron|MIR544B_ENST00000582372.1_RNA NM_000373.3 NP_000364.1 P11172 UMPS_HUMAN uridine monophosphate synthetase NA NA 'de novo' pyrimidine nucleobase biosynthetic process (GO:0006207)|'de novo' UMP biosynthetic process (GO:0044205)|cellular response to drug (GO:0035690)|female pregnancy (GO:0007565)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|small molecule metabolic process (GO:0044281)|UMP biosynthetic process (GO:0006222) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634) orotate phosphoribosyltransferase activity (GO:0004588)|orotidine-5'-phosphate decarboxylase activity (GO:0004590) cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 16 GBM - Glioblastoma multiforme(114;0.146) Fluorouracil(DB00544) gcagaatccatttctgtagct 0.378 NA G||| 902 0.180112 0.1331 0.2608 5008 , , NA 18565 0.1677 NA 0.1491 False NA ,,, NA NA NA 2504 0.2311 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS3029.1 3q13 2008-02-04 2008-02-04 ENSG00000114491 ENSG00000114491 7372 2.4.2.10, 4.1.1.23 12563 protein-coding gene gene with protein product orotate phosphoribosyl transferase and orotidine-5'-decarboxylase 613891 NA 2767686 Standard NM_000373 NM_000373 NA Approved uc003ehl.4 P11172 OTTHUMG00000159431 ENST00000232607.2:c.156+1838T>G chr3.hg19:g.124451312T>G NA B5LY68|B5LY72|O00758|O00759|O00760|Q16862|Q9H3Q2|Q9UG49 hg19 CCDS3029.1 0.02 20.721873 CCAxTTC COVERED NOVEL UMPS-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000355271.1 5 32.494191 KEEP 0 0 0 108 3329 TT 1 1 0 + 16 60 611 0 0 38.353783 459 60 16924 703 ENST00000232607.2 0.033684 1 UMPS 7372 __UNKNOWN__ __UNKNOWN__ 3 124462808 124462808 __UNKNOWN__ Silent SNP C C T rs13146 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:124462808C>T ENST00000232607.2 + 6 1426 c.1320C>T c.(1318-1320)ggC>ggT p.G440G UMPS_ENST00000413078.2_Silent_p.G165G|UMPS_ENST00000538242.1_Silent_p.G262G|UMPS_ENST00000536109.1_Silent_p.G348G NM_000373.3 NP_000364.1 P11172 UMPS_HUMAN uridine monophosphate synthetase 440 OMPdecase. NA 'de novo' pyrimidine nucleobase biosynthetic process (GO:0006207)|'de novo' UMP biosynthetic process (GO:0044205)|cellular response to drug (GO:0035690)|female pregnancy (GO:0007565)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|small molecule metabolic process (GO:0044281)|UMP biosynthetic process (GO:0006222) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634) orotate phosphoribosyltransferase activity (GO:0004588)|orotidine-5'-phosphate decarboxylase activity (GO:0004590) cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 16 GBM - Glioblastoma multiforme(114;0.146) Fluorouracil(DB00544) AAGTTATTGGCAAACGAGGTT 0.418 NA C||| 932 0.186102 0.1505 0.2622 5008 , , NA 17453 0.1677 NA 0.1511 False NA ,,, NA NA NA 2504 0.2352 NA NA NA NA 0 C 681,3725 287.2+/-279.2 57,567,1579 152 139 144 1320 -0.3 0.6 3 dbSNP_52 144 1471,7129 280.8+/-294.7 123,1225,2952 no coding-synonymous UMPS NM_000373.3 180,1792,4531 TT,TC,CC 17.1047,15.4562,16.5462 440/481 124462808 2152,10854 2203 4300 6503 SO:0001819 synonymous_variant CCDS3029.1 3q13 2008-02-04 2008-02-04 ENSG00000114491 ENSG00000114491 7372 2.4.2.10, 4.1.1.23 12563 protein-coding gene gene with protein product orotate phosphoribosyl transferase and orotidine-5'-decarboxylase 613891 NA 2767686 Standard NM_000373 NM_000373 NA Approved uc003ehl.4 P11172 OTTHUMG00000159431 ENST00000232607.2:c.1320C>T chr3.hg19:g.124462808C>T NA B5LY68|B5LY72|O00758|O00759|O00760|Q16862|Q9H3Q2|Q9UG49 hg19 CCDS3029.1 0.02 28.700889 TGGxAAA COVERED NOVEL UMPS-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000355271.1 2 31.301466 KEEP 0 0 0 104 3702 CC 1 1 0 + 21 60 741 0 0 43.068806 690 70 26179 975 ENST00000232607.2 0.029536 1 UMPS 7372 __UNKNOWN__ __UNKNOWN__ 3 124463656 124463656 __UNKNOWN__ 3'UTR SNP A A T rs199600358|rs386665422|rs2242247 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:124463656A>T ENST00000232607.2 + 0 2274 NM_000373.3 NP_000364.1 P11172 UMPS_HUMAN uridine monophosphate synthetase NA NA 'de novo' pyrimidine nucleobase biosynthetic process (GO:0006207)|'de novo' UMP biosynthetic process (GO:0044205)|cellular response to drug (GO:0035690)|female pregnancy (GO:0007565)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|small molecule metabolic process (GO:0044281)|UMP biosynthetic process (GO:0006222) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634) orotate phosphoribosyltransferase activity (GO:0004588)|orotidine-5'-phosphate decarboxylase activity (GO:0004590) cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 16 GBM - Glioblastoma multiforme(114;0.146) Fluorouracil(DB00544) cccaaataatacctaattgtt 0.443 NA A||| 932 0.186102 0.1505 0.2622 5008 , , NA 21448 0.1677 NA 0.1511 False NA ,,, NA NA NA 2504 0.2352 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS3029.1 3q13 2008-02-04 2008-02-04 ENSG00000114491 ENSG00000114491 7372 2.4.2.10, 4.1.1.23 12563 protein-coding gene gene with protein product orotate phosphoribosyl transferase and orotidine-5'-decarboxylase 613891 NA 2767686 Standard NM_000373 NM_000373 NA Approved uc003ehl.4 P11172 OTTHUMG00000159431 ENST00000232607.2:c.*725A>T chr3.hg19:g.124463656A>T NA B5LY68|B5LY72|O00758|O00759|O00760|Q16862|Q9H3Q2|Q9UG49 hg19 CCDS3029.1 0.02 8.912367 AATxCCT COVERED NOVEL UMPS-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000355271.1 2 7.519891 KEEP 0 0 0 25 745 AA 0.999931 0.999931 0 + 10 60 370 0 0 24.110603 210 60 7522 298 ENST00000232607.2 0.045455 1 ITGB5 3693 __UNKNOWN__ __UNKNOWN__ 3 124481052 124481052 __UNKNOWN__ 3'UTR SNP G G A rs14386 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:124481052G>A ENST00000296181.4 - 0 4114 NM_002213.3 NP_002204.2 P18084 ITB5_HUMAN integrin, beta 5 NA NA antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|epithelial cell-cell adhesion (GO:0090136)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179) cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alphav-beta5 complex (GO:0034684)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) receptor activity (GO:0004872) breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 30 GBM - Glioblastoma multiforme(114;0.163) ATGAAGTAAGGGGAATTGGGT 0.378 NA G||| 885 0.176717 0.1203 0.2608 5008 , , NA 20792 0.1627 NA 0.1511 False NA ,,, NA NA NA 2504 0.2342 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant J05633 CCDS3030.1 3q21.2 2010-03-23 ENSG00000082781 ENSG00000082781 3693 Integrins 6160 protein-coding gene gene with protein product 147561 NA 2211615 Standard NM_002213 NM_002213 NA Approved uc003eho.3 P18084 OTTHUMG00000159432 ENST00000296181.4:c.*1418C>T chr3.hg19:g.124481052G>A NA B0LPF8|B2RD70 hg19 CCDS3030.1 0.02 9.283188 AAGxGGA COVERED NOVEL ITGB5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000355286.3 2 23.473503 KEEP 0 0 0 78 2709 GG 1 1 0 - 7 60 267 0 0 16.21767 240 60 8723 413 ENST00000296181.4 0.02834 1 ITGB5 3693 __UNKNOWN__ __UNKNOWN__ 3 124481987 124481987 __UNKNOWN__ 3'UTR SNP A A G rs2676 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:124481987A>G ENST00000296181.4 - 0 3179 NM_002213.3 NP_002204.2 P18084 ITB5_HUMAN integrin, beta 5 NA NA antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|epithelial cell-cell adhesion (GO:0090136)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179) cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alphav-beta5 complex (GO:0034684)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) receptor activity (GO:0004872) breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 30 GBM - Glioblastoma multiforme(114;0.163) GCCATCACGCAGAAAAGTCTC 0.418 NA A||| 988 0.197284 0.1952 0.2651 5008 , , NA 20841 0.1617 NA 0.1531 False NA ,,, NA NA NA 2504 0.2342 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant J05633 CCDS3030.1 3q21.2 2010-03-23 ENSG00000082781 ENSG00000082781 3693 Integrins 6160 protein-coding gene gene with protein product 147561 NA 2211615 Standard NM_002213 NM_002213 NA Approved uc003eho.3 P18084 OTTHUMG00000159432 ENST00000296181.4:c.*483T>C chr3.hg19:g.124481987A>G NA B0LPF8|B2RD70 hg19 CCDS3030.1 0.02 4.259571 CGCxGAA COVERED NOVEL ITGB5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000355286.3 0 12.939169 KEEP 0 0 0 43 1360 AA 1 1 0 - 5 60 187 0 0 11.569393 145 60 5413 233 ENST00000296181.4 0.033333 1 ITGB5 3693 __UNKNOWN__ __UNKNOWN__ 3 124482113 124482113 __UNKNOWN__ 3'UTR SNP T T G rs2675 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:124482113T>G ENST00000296181.4 - 0 3053 NM_002213.3 NP_002204.2 P18084 ITB5_HUMAN integrin, beta 5 NA NA antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|epithelial cell-cell adhesion (GO:0090136)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179) cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alphav-beta5 complex (GO:0034684)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) receptor activity (GO:0004872) breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 30 GBM - Glioblastoma multiforme(114;0.163) CCTGACAGTCTTCTTGTCTGG 0.458 NA T||| 885 0.176717 0.1203 0.2608 5008 , , NA 22327 0.1627 NA 0.1511 False NA ,,, NA NA NA 2504 0.2342 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant J05633 CCDS3030.1 3q21.2 2010-03-23 ENSG00000082781 ENSG00000082781 3693 Integrins 6160 protein-coding gene gene with protein product 147561 NA 2211615 Standard NM_002213 NM_002213 NA Approved uc003eho.3 P18084 OTTHUMG00000159432 ENST00000296181.4:c.*357A>C chr3.hg19:g.124482113T>G NA B0LPF8|B2RD70 hg19 CCDS3030.1 0.02 7.698446 GTCxTCT COVERED NOVEL ITGB5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000355286.3 2 11.132931 KEEP 0 0 0 37 1165 TT 1 1 0 - 11 60 356 0 0 21.837638 212 60 7849 289 ENST00000296181.4 0.049327 1 ITGB5 3693 __UNKNOWN__ __UNKNOWN__ 3 124485235 124485235 __UNKNOWN__ Intron SNP A A G rs2291081 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:124485235A>G ENST00000296181.4 - 13 2314 ITGB5_ENST00000461306.1_Intron NM_002213.3 NP_002204.2 P18084 ITB5_HUMAN integrin, beta 5 NA NA antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|epithelial cell-cell adhesion (GO:0090136)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179) cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alphav-beta5 complex (GO:0034684)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) receptor activity (GO:0004872) breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 30 GBM - Glioblastoma multiforme(114;0.163) CTCTCTGAGCAGCCCACAGCC 0.557 NA A||| 844 0.16853 0.1331 0.2594 5008 , , NA 16887 0.1637 NA 0.1431 False NA ,,, NA NA NA 2504 0.183 NA NA NA NA 0 A 599,3807 257.4+/-261.8 48,503,1652 43 45 44 -0.9 0 3 dbSNP_100 44 1385,7215 264.2+/-285.4 107,1171,3022 no intron ITGB5 NM_002213.3 155,1674,4674 GG,GA,AA 16.1047,13.5951,15.2545 124485235 1984,11022 2203 4300 6503 SO:0001627 intron_variant J05633 CCDS3030.1 3q21.2 2010-03-23 ENSG00000082781 ENSG00000082781 3693 Integrins 6160 protein-coding gene gene with protein product 147561 NA 2211615 Standard NM_002213 NM_002213 NA Approved uc003eho.3 P18084 OTTHUMG00000159432 ENST00000296181.4:c.2018-43T>C chr3.hg19:g.124485235A>G NA B0LPF8|B2RD70 hg19 CCDS3030.1 0.02 4.499827 AGCxGCC COVERED NOVEL ITGB5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000355286.3 0 12.035405 KEEP 0 0 0 40 1235 AA 1 1 0 - 5 60 185 0 0 11.619432 129 60 4763 224 ENST00000296181.4 0.037313 1 MUC13 56667 __UNKNOWN__ __UNKNOWN__ 3 124629446 124629446 __UNKNOWN__ Intron SNP C C T rs373691376 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:124629446C>T ENST00000311075.3 - 10 1288 NM_033049.3 NP_149038 Q9H3R2 MUC13_HUMAN mucin 13, cell surface associated NA NA cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021) protein homodimerization activity (GO:0042803) breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1) 18 GCTGTGAAGACGATCAGGTTC 0.498 NA C||| 3 0.000599042 0.0 0.0 5008 , , NA 19634 0.003 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF286113 3q21.2 2007-01-17 2006-03-14 ENSG00000173702 ENSG00000173702 56667 Mucins 7511 protein-coding gene gene with protein product 612181 down-regulated in colon cancer 1, mucin 13, epithelial transmembrane DRCC1 NA 11278439 Standard NM_033049 NM_033049 NA Approved uc003ehq.2 Q9H3R2 OTTHUMG00000159484 ENST00000311075.3:c.1250-100G>A chr3.hg19:g.124629446C>T NA Q6UWD9|Q9NXT5 hg19 0.02 1.755707 AGAxGAT COVERED NOVEL MUC13-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000355714.1 0 2.406635 KEEP 0 0 0 8 245 CC 0.99257 0.99249 0 - 4 60 149 0 0 9.610598 91 60 2854 105 ENST00000311075.3 0.042105 0.999919 SLC12A8 84561 __UNKNOWN__ __UNKNOWN__ 3 124801903 124801903 __UNKNOWN__ 3'UTR SNP C C T rs2981485 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:124801903C>T ENST00000393469.4 - 0 3025 SLC12A8_ENST00000430155.2_3'UTR|SLC12A8_ENST00000423114.2_3'UTR NM_001195483.1 NP_001182412 A0AV02 S12A8_HUMAN solute carrier family 12, member 8 NA NA potassium ion transport (GO:0006813) integral component of membrane (GO:0016021) symporter activity (GO:0015293) endometrium(2)|kidney(2)|lung(12) 16 gctggatgtacggatgagaat 0.408 NA t||| 3181 0.635184 0.8351 0.6023 5008 , , NA 18381 0.5933 NA 0.5388 False NA ,,, NA NA NA 2504 0.5307 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS43143.1 3q21.2 2013-07-18 2013-07-18 ENSG00000221955 ENSG00000221955 84561 Solute carriers 15595 protein-coding gene gene with protein product solute carrier family 12 (sodium/potassium/chloride transporters), member 8, cation-chloride cotransporter 9 611316 NA 11863360 Standard NM_024628 NM_024628 NA Approved CCC9 uc003ehv.4 A0AV02 OTTHUMG00000159483 ENST00000393469.4:c.*831G>A chr3.hg19:g.124801903C>T NA C9JJJ2|Q68D04|Q6I9Z2|Q6P4C0|Q7Z3A6|Q86WK0|Q8NFX9|Q8WUI3|Q96RF9|Q9H5P9 hg19 CCDS43143.1 0.02 8.281689 GTAxGGA COVERED NOVEL SLC12A8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000355711.4 1 7.223154 KEEP 0 0 0 24 826 CC 0.999909 0.999909 0 - 9 60 334 0 0 21.09942 227 60 7868 301 ENST00000393469.4 0.038136 1 SLC12A8 84561 __UNKNOWN__ __UNKNOWN__ 3 124802677 124802677 __UNKNOWN__ 3'UTR SNP A A G rs1574340 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:124802677A>G ENST00000393469.4 - 0 2251 SLC12A8_ENST00000430155.2_3'UTR|SLC12A8_ENST00000465475.1_5'UTR|SLC12A8_ENST00000423114.2_3'UTR|SLC12A8_ENST00000469902.1_3'UTR NM_001195483.1 NP_001182412 A0AV02 S12A8_HUMAN solute carrier family 12, member 8 NA NA potassium ion transport (GO:0006813) integral component of membrane (GO:0016021) symporter activity (GO:0015293) endometrium(2)|kidney(2)|lung(12) 16 GAAGGTCCTGAGCTTGGGTCC 0.517 NA G||| 3123 0.623602 0.8003 0.5994 5008 , , NA 19769 0.5813 NA 0.5388 False NA ,,, NA NA NA 2504 0.5327 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS43143.1 3q21.2 2013-07-18 2013-07-18 ENSG00000221955 ENSG00000221955 84561 Solute carriers 15595 protein-coding gene gene with protein product solute carrier family 12 (sodium/potassium/chloride transporters), member 8, cation-chloride cotransporter 9 611316 NA 11863360 Standard NM_024628 NM_024628 NA Approved CCC9 uc003ehv.4 A0AV02 OTTHUMG00000159483 ENST00000393469.4:c.*57T>C chr3.hg19:g.124802677A>G NA C9JJJ2|Q68D04|Q6I9Z2|Q6P4C0|Q7Z3A6|Q86WK0|Q8NFX9|Q8WUI3|Q96RF9|Q9H5P9 hg19 CCDS43143.1 0.02 18.982501 CTGxGCT COVERED NOVEL SLC12A8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000355711.4 11 17.380704 KEEP 0 1 38 71 2222 AA 1 1 0 - 16 60 611 0 0 39.160174 408 60 14936 604 ENST00000393469.4 0.037736 1 CCDC37 348807 __UNKNOWN__ __UNKNOWN__ 3 126133239 126133239 __UNKNOWN__ Intron SNP C C T rs6775131 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:126133239C>T ENST00000352312.1 + 4 324 CCDC37_ENST00000505024.1_Intron|CCDC37_ENST00000393425.1_Intron NM_182628.2 NP_872434.2 Q494V2 CCD37_HUMAN coiled-coil domain containing 37 NA NA NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3) 23 GBM - Glioblastoma multiforme(114;0.166) TGTCACCACTCTTCTTGGGTC 0.532 NA C||| 1869 0.373203 0.4788 0.4121 5008 , , NA 19331 0.4008 NA 0.3221 False NA ,,, NA NA NA 2504 0.227 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK097402 CCDS3037.1 3q21.2 2014-07-31 ENSG00000163885 ENSG00000163885 348807 26842 protein-coding gene gene with protein product NA 23569216 Standard NM_182628 NM_182628 NA Approved FLJ40083, MIA1 uc003eiu.1 Q494V2 OTTHUMG00000162691 ENST00000352312.1:c.225+217C>T chr3.hg19:g.126133239C>T NA D3DNA8|Q494V1|Q494V4|Q8N838 hg19 CCDS3037.1 0.02 16.559716 ACTxTTC COVERED NOVEL CCDC37-001 KNOWN basic|appris_candidate|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000370099.4 3 12.039528 KEEP 0 0 0 40 1463 CC 1 1 0 + 14 60 508 0 0 30.734649 413 60 16014 594 ENST00000352312.1 0.032787 1 CCDC37 348807 __UNKNOWN__ __UNKNOWN__ 3 126153076 126153076 __UNKNOWN__ Missense_Mutation SNP G G A rs148372855 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:126153076G>A ENST00000352312.1 + 15 1579 c.1480G>A c.(1480-1482)Ggc>Agc p.G494S CCDC37_ENST00000505024.1_Missense_Mutation_p.G495S|CCDC37_ENST00000506204.1_3'UTR|CCDC37_ENST00000393425.1_Missense_Mutation_p.G495S NM_182628.2 NP_872434.2 Q494V2 CCD37_HUMAN coiled-coil domain containing 37 494 NA NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3) 23 GBM - Glioblastoma multiforme(114;0.166) GCACTGCACCGGCACCCAGCA 0.612 NA NA NA NA NA NA NA NA NA NA NA 0 G SER/GLY 2,4404 4.2+/-10.8 0,2,2201 57 50 53 1480 3.3 0 3 dbSNP_134 53 0,8600 0,0,4300 no missense CCDC37 NM_182628.2 56 0,2,6501 AA,AG,GG 0.0,0.0454,0.0154 possibly-damaging 494/612 126153076 2,13004 2203 4300 6503 SO:0001583 missense AK097402 CCDS3037.1 3q21.2 2014-07-31 ENSG00000163885 ENSG00000163885 348807 26842 protein-coding gene gene with protein product NA 23569216 Standard NM_182628 NM_182628 NA Approved FLJ40083, MIA1 uc003eiu.1 Q494V2 OTTHUMG00000162691 ENST00000352312.1:c.1480G>A chr3.hg19:g.126153076G>A ENSP00000344749:p.Gly494Ser NA D3DNA8|Q494V1|Q494V4|Q8N838 hg19 CCDS3037.1 0.02 4.936369 ACCxGCA COVERED . . . . . . . . . . G 10.74 1.436821 0.25900 4.54E-4 0.0 ENSG00000163885 ENST00000352312;ENST00000393425;ENST00000505024 T;T;T 0.46451 0.9;0.87;0.87 5.08 3.29 0.37713 . 0.097739 0.64402 D 0.000001 T 0.52041 0.1710 M 0.86864 2.845 0.49389 D 0.999784 P;P 0.52463 0.953;0.922 P;B 0.47015 0.534;0.334 T 0.56739 -0.7929 10 0.52906 T 0.07 -22.977 9.9754 0.41779 0.1697:0.0:0.8303:0.0 . 495;494 Q494V2-2;Q494V2 .;CCD37_HUMAN S 494;495;495 ENSP00000344749:G494S;ENSP00000377076:G495S;ENSP00000423046:G495S ENSP00000344749:G494S G + 1 0 CCDC37 127635766 0.998000 0.40836 0.005000 0.12908 0.007000 0.05969 3.085000 0.50151 0.535000 0.28714 -0.216000 0.12614 GGC NOVEL CCDC37-001 KNOWN basic|appris_candidate|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000370099.4 0 6.017485 KEEP 0 0 0 20 638 GG 0.999863 0.999852 0 + 6 60 230 0 0 15.827163 101 60 3333 157 ENST00000352312.1 0.056075 0.999989 ZXDC 79364 __UNKNOWN__ __UNKNOWN__ 3 126158622 126158622 __UNKNOWN__ Intron SNP A A C rs1799404 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:126158622A>C ENST00000389709.3 - 9 2448 NM_025112.4 NP_079388.3 Q2QGD7 ZXDC_HUMAN ZXD family zinc finger C NA NA positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) C2H2 zinc finger domain binding (GO:0070742)|LRR domain binding (GO:0030275)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1) 17 GBM - Glioblastoma multiforme(114;0.155) AGTGCAGCAAAGGTCCTCGTC 0.622 NA C||| 2888 0.576677 0.7927 0.4971 5008 , , NA 19877 0.5149 NA 0.5129 False NA ,,, NA NA NA 2504 0.4703 NA NA NA NA 0 C 1910,604 740,430,87 21 33 29 0.4 0 3 dbSNP_89 29 2272,2220 563,1146,537 no intron ZXDC NM_025112.4 1303,1576,624 CC,CA,AA 49.4212,24.0255,40.3083 126158622 4182,2824 1257 2246 3503 SO:0001627 intron_variant AK023923 CCDS43145.1, CCDS43146.1 3q21.3 2014-02-12 ENSG00000070476 ENSG00000070476 79364 Zinc fingers, C2H2-type 28160 protein-coding gene gene with protein product 615746 NA 8619474, 9110174 Standard NM_025112 XM_005247757 NA Approved MGC11349, FLJ13861 uc003eiv.3 Q2QGD7 OTTHUMG00000162754 ENST00000389709.3:c.2395-52T>G chr3.hg19:g.126158622A>C NA C5J0H9|Q6DKI8|Q7L3L1|Q8NAU2 hg19 CCDS43145.1 0.02 6.339508 CAAxGGT COVERED NOVEL ZXDC-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000370327.2 1 11.734695 KEEP 0 0 0 39 1209 AA 1 1 0 - 9 60 303 0 0 19.792755 142 60 5319 236 ENST00000389709.3 0.059603 1 UROC1 131669 __UNKNOWN__ __UNKNOWN__ 3 126216829 126216829 __UNKNOWN__ Intron SNP T T A rs13098666 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:126216829T>A ENST00000290868.2 - 14 1492 UROC1_ENST00000383579.3_Intron NM_144639.2 NP_653240.1 Q96N76 HUTU_HUMAN urocanate hydratase 1 NA NA cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829) urocanate hydratase activity (GO:0016153) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1) 39 GBM - Glioblastoma multiforme(114;0.17) TAGAAGCTTGTCTCTATGGAG 0.577 NA T||| 1638 0.327077 0.2579 0.281 5008 , , NA 16936 0.5208 NA 0.2396 False NA ,,, NA NA NA 2504 0.3436 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK055862 CCDS3038.1, CCDS54636.1 3q21.2 2012-08-21 2012-08-21 ENSG00000159650 ENSG00000159650 131669 4.2.1.49 26444 protein-coding gene gene with protein product urocanase 1 613012 urocanase domain containing 1 NA 19304569 Standard NM_144639 NM_144639 NA Approved FLJ31300, HMFN0320 uc010hsi.2 Q96N76 OTTHUMG00000162753 ENST00000290868.2:c.1438+64A>T chr3.hg19:g.126216829T>A NA E9PE13|Q14C64|Q68CJ7 hg19 CCDS3038.1 0.02 1.651672 TTGxCTC COVERED NOVEL UROC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000370325.2 0 3.609714 KEEP 0 0 0 12 357 TT 0.993634 0.993195 0 - 5 60 172 0 0 11.357401 79 60 2782 108 ENST00000290868.2 0.059524 0.999559 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 126341284 126341284 __UNKNOWN__ IGR SNP T T C rs3732533 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:126341284T>C NA NA TXNRD3 (13196 upstream) : NUP210P1 (39639 downstream) NA NA NA GCAGCAACAGTGCAGTGATCC 0.368 NA T||| 475 0.0948482 0.0507 0.0778 5008 , , NA 18206 0.2034 NA 0.0626 False NA ,,, NA NA NA 2504 0.0879 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.126341284T>C NA hg19 0.02 8.102908 CAGxGCA COVERED NOVEL 0 0 12.33546 KEEP 0 0 0 41 1258 TT 1 1 0 7 60 261 0 0 15.65412 237 60 8506 348 0.028689 1 NUP210P1 255330 __UNKNOWN__ __UNKNOWN__ 3 126384945 126384945 __UNKNOWN__ RNA SNP C C T rs2271988 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:126384945C>T ENST00000357061.3 + 0 319 NR_034158.1 nucleoporin 210kDa pseudogene 1 NA NA NA TCCTGAGGGGCCTTCTCGCCA 0.642 NA C||| 1297 0.258986 0.3593 0.1037 5008 , , NA 17831 0.371 NA 0.0825 False NA ,,, NA NA NA 2504 0.2996 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA BC042038 3q21.2 2011-08-16 2011-08-16 2011-08-16 ENSG00000198284 ENSG00000198284 255330 27399 pseudogene pseudogene chromosome 3 open reading frame 46 C3orf46 NA Standard NR_034158 NR_034158 NA Approved uc003eje.1 OTTHUMG00000159577 ENST00000357061.3: chr3.hg19:g.126384945C>T NA hg19 0.02 1.728319 GGGxCTT COVERED NOVEL NUP210P1-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000356320.1 0 3.248665 KEEP 0 0 0 11 367 CC 0.993072 0.993021 0 + 5 60 160 0 0 9.834728 93 60 3417 129 ENST00000357061.3 0.05102 0.999948 NUP210P1 255330 __UNKNOWN__ __UNKNOWN__ 3 126385891 126385891 __UNKNOWN__ RNA SNP C C G rs2271991 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:126385891C>G ENST00000357061.3 + 0 400 NR_034158.1 nucleoporin 210kDa pseudogene 1 NA NA NA TCCCGCCTCTCGTTTAACTGT 0.527 NA G||| 1301 0.259784 0.3623 0.1037 5008 , , NA 18829 0.371 NA 0.0825 False NA ,,, NA NA NA 2504 0.2996 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA BC042038 3q21.2 2011-08-16 2011-08-16 2011-08-16 ENSG00000198284 ENSG00000198284 255330 27399 pseudogene pseudogene chromosome 3 open reading frame 46 C3orf46 NA Standard NR_034158 NR_034158 NA Approved uc003eje.1 OTTHUMG00000159577 ENST00000357061.3: chr3.hg19:g.126385891C>G NA hg19 0.02 4.412205 TCTxGTT COVERED NOVEL NUP210P1-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000356320.1 0 2.708369 KEEP 0 0 0 9 289 CC 0.99254 0.99254 0 + 5 60 187 0 0 11.676517 138 60 4948 161 ENST00000357061.3 0.034965 1 PLXNA1 5361 __UNKNOWN__ __UNKNOWN__ 3 126708453 126708453 __UNKNOWN__ Silent SNP T T C rs6773789 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:126708453T>C ENST00000393409.2 + 1 1017 c.1017T>C c.(1015-1017)acT>acC p.T339T PLXNA1_ENST00000251772.4_Silent_p.T316T NM_032242.3 NP_115618.3 Q9UIW2 PLXA1_HUMAN plexin A1 339 Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}. NA axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116) receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154) breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) TGCTGTTCACTGTGTTCGCCC 0.637 NA C||| 2368 0.472843 0.7088 0.353 5008 , , NA 19836 0.4236 NA 0.339 False NA ,,, NA NA NA 2504 0.4274 NA NA NA NA 0 C 2860,1546 484.2+/-360.0 904,1052,247 71 72 72 1017 -3.8 0.8 3 dbSNP_116 72 2722,5878 679.7+/-403.6 438,1846,2016 no coding-synonymous PLXNA1 NM_032242.3 1342,2898,2263 CC,CT,TT 31.6512,35.0885,42.9187 339/1897 126708453 5582,7424 2203 4300 6503 SO:0001819 synonymous_variant X87832 CCDS33847.1, CCDS33847.2 3q21.2 2006-12-19 ENSG00000114554 5361 Plexins 9099 protein-coding gene gene with protein product 601055 PLXN1 NA 8570614 Standard NM_032242 NM_032242 NA Approved NOV uc003ejg.3 Q9UIW2 ENST00000393409.2:c.1017T>C chr3.hg19:g.126708453T>C NA hg19 CCDS33847.2 0.02 15.762997 CACxGTG COVERED NOVEL PLXNA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000356451.1 1 33.701276 KEEP 0 0 0 112 3517 TT 1 1 0 + 25 60 877 0 0 59.549273 357 60 13278 592 ENST00000393409.2 0.065445 1 PLXNA1 5361 __UNKNOWN__ __UNKNOWN__ 3 126708459 126708459 __UNKNOWN__ Silent SNP C C T rs61746811 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:126708459C>T ENST00000393409.2 + 1 1023 c.1023C>T c.(1021-1023)ttC>ttT p.F341F PLXNA1_ENST00000251772.4_Silent_p.F318F NM_032242.3 NP_115618.3 Q9UIW2 PLXA1_HUMAN plexin A1 341 Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}. NA axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116) receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154) breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) TCACTGTGTTCGCCCAGGGCC 0.632 NA c||| 537 0.107228 0.0113 0.1427 5008 , , NA 19877 0.2163 NA 0.0626 False NA ,,, NA NA NA 2504 0.1452 NA NA NA NA 0 T 67,4339 61.1+/-98.1 0,67,2136 71 70 70 1023 -7.1 0.6 3 dbSNP_129 70 561,8039 150.3+/-205.2 21,519,3760 yes coding-synonymous PLXNA1 NM_032242.3 21,586,5896 TT,TC,CC 6.5233,1.5207,4.8285 341/1897 126708459 628,12378 2203 4300 6503 SO:0001819 synonymous_variant X87832 CCDS33847.1, CCDS33847.2 3q21.2 2006-12-19 ENSG00000114554 5361 Plexins 9099 protein-coding gene gene with protein product 601055 PLXN1 NA 8570614 Standard NM_032242 NM_032242 NA Approved NOV uc003ejg.3 Q9UIW2 ENST00000393409.2:c.1023C>T chr3.hg19:g.126708459C>T NA hg19 CCDS33847.2 0.02 14.864953 GTTxGCC COVERED NOVEL PLXNA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000356451.1 1 30.52891 KEEP 0 1 21 109 3681 CC 1 1 0 + 12 60 445 0 0 27.073603 370 60 12775 592 ENST00000393409.2 0.031414 1 PLXNA1 5361 __UNKNOWN__ __UNKNOWN__ 3 126722304 126722304 __UNKNOWN__ Silent SNP C C T rs41266467 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:126722304C>T ENST00000393409.2 + 3 1509 c.1509C>T c.(1507-1509)acC>acT p.T503T PLXNA1_ENST00000251772.4_Silent_p.T480T NM_032242.3 NP_115618.3 Q9UIW2 PLXA1_HUMAN plexin A1 503 Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}. NA axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116) receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154) breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) ACGCCATGACCGAGAAGCAGG 0.662 NA C||| 727 0.145168 0.1407 0.1671 5008 , , NA 14353 0.2163 NA 0.0656 False NA ,,, NA NA NA 2504 0.1442 NA NA NA NA 0 C 640,3766 272.8+/-271.0 50,540,1613 71 64 66 1509 -7.5 0.9 3 dbSNP_127 66 582,8018 154.5+/-208.7 24,534,3742 no coding-synonymous PLXNA1 NM_032242.3 74,1074,5355 TT,TC,CC 6.7674,14.5256,9.3957 503/1897 126722304 1222,11784 2203 4300 6503 SO:0001819 synonymous_variant X87832 CCDS33847.1, CCDS33847.2 3q21.2 2006-12-19 ENSG00000114554 5361 Plexins 9099 protein-coding gene gene with protein product 601055 PLXN1 NA 8570614 Standard NM_032242 NM_032242 NA Approved NOV uc003ejg.3 Q9UIW2 ENST00000393409.2:c.1509C>T chr3.hg19:g.126722304C>T NA hg19 CCDS33847.2 0.02 17.47726 GACxGAG COVERED NOVEL PLXNA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000356451.1 2 43.634087 KEEP 0 0 0 145 4824 CC 1 1 0 + 12 60 434 0 0 25.71442 390 60 13536 668 ENST00000393409.2 0.029851 1 PLXNA1 5361 __UNKNOWN__ __UNKNOWN__ 3 126726705 126726705 __UNKNOWN__ Silent SNP A A G rs9876615 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:126726705A>G ENST00000393409.2 + 8 2061 c.2061A>G c.(2059-2061)acA>acG p.T687T PLXNA1_ENST00000251772.4_Silent_p.T664T NM_032242.3 NP_115618.3 Q9UIW2 PLXA1_HUMAN plexin A1 687 NA axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116) receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154) breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) ACGTGTGCACACACAACGTGG 0.622 NA A||| 769 0.153554 0.1036 0.0605 5008 , , NA 21337 0.2044 NA 0.1312 False NA ,,, NA NA NA 2504 0.2577 NA NA NA NA 0 A 438,3968 208.8+/-229.8 21,396,1786 82 73 76 2061 -7.3 0.1 3 dbSNP_119 76 960,7640 208.2+/-249.7 62,836,3402 no coding-synonymous PLXNA1 NM_032242.3 83,1232,5188 GG,GA,AA 11.1628,9.941,10.7489 687/1897 126726705 1398,11608 2203 4300 6503 SO:0001819 synonymous_variant X87832 CCDS33847.1, CCDS33847.2 3q21.2 2006-12-19 ENSG00000114554 5361 Plexins 9099 protein-coding gene gene with protein product 601055 PLXN1 NA 8570614 Standard NM_032242 NM_032242 NA Approved NOV uc003ejg.3 Q9UIW2 ENST00000393409.2:c.2061A>G chr3.hg19:g.126726705A>G NA hg19 CCDS33847.2 0.02 5.872228 CACxCAC COVERED NOVEL PLXNA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000356451.1 0 11.433955 KEEP 0 0 0 38 1174 AA 1 1 0 + 8 60 262 0 0 16.260279 151 60 5383 245 ENST00000393409.2 0.050314 1 PLXNA1 5361 __UNKNOWN__ __UNKNOWN__ 3 126726803 126726803 __UNKNOWN__ Intron SNP A A G rs9876778 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:126726803A>G ENST00000393409.2 + 8 2112 PLXNA1_ENST00000251772.4_Intron NM_032242.3 NP_115618.3 Q9UIW2 PLXA1_HUMAN plexin A1 NA NA axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116) receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154) breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) GGTGGAGCAGAACTGGGTTGA 0.617 NA A||| 676 0.134984 0.0946 0.0403 5008 , , NA 20469 0.2044 NA 0.0716 False NA ,,, NA NA NA 2504 0.2505 NA NA NA NA 0 A 370,4036 174.1+/-203.8 16,338,1849 30 27 28 -2.3 0 3 dbSNP_119 28 524,8074 137.6+/-194.5 18,488,3793 no intron PLXNA1 NM_032242.3 34,826,5642 GG,GA,AA 6.0944,8.3976,6.8748 126726803 894,12110 2203 4299 6502 SO:0001627 intron_variant X87832 CCDS33847.1, CCDS33847.2 3q21.2 2006-12-19 ENSG00000114554 5361 Plexins 9099 protein-coding gene gene with protein product 601055 PLXN1 NA 8570614 Standard NM_032242 NM_032242 NA Approved NOV uc003ejg.3 Q9UIW2 ENST00000393409.2:c.2112+47A>G chr3.hg19:g.126726803A>G NA hg19 CCDS33847.2 0.02 4.177261 CAGxACT COVERED NOVEL PLXNA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000356451.1 1 8.423122 KEEP 0 0 0 28 845 AA 0.999997 0.999997 0 + 7 60 247 0 0 15.815445 141 60 5010 211 ENST00000393409.2 0.047297 1 PLXNA1 5361 __UNKNOWN__ __UNKNOWN__ 3 126735453 126735453 __UNKNOWN__ Silent SNP C C T rs9858521 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:126735453C>T ENST00000393409.2 + 15 3108 c.3108C>T c.(3106-3108)acC>acT p.T1036T PLXNA1_ENST00000251772.4_Silent_p.T1013T NM_032242.3 NP_115618.3 Q9UIW2 PLXA1_HUMAN plexin A1 1036 IPT/TIG 2. NA axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116) receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154) breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) CCCAGCTCACCAACCCTGAGG 0.627 NA C||| 748 0.149361 0.0946 0.0548 5008 , , NA 18241 0.2083 NA 0.1203 False NA ,,, NA NA NA 2504 0.2597 NA NA NA NA 0 C 403,4003 198.7+/-222.5 15,373,1815 117 118 118 3108 3.8 1 3 dbSNP_119 118 870,7730 197.3+/-242.0 51,768,3481 no coding-synonymous PLXNA1 NM_032242.3 66,1141,5296 TT,TC,CC 10.1163,9.1466,9.7878 1036/1897 126735453 1273,11733 2203 4300 6503 SO:0001819 synonymous_variant X87832 CCDS33847.1, CCDS33847.2 3q21.2 2006-12-19 ENSG00000114554 5361 Plexins 9099 protein-coding gene gene with protein product 601055 PLXN1 NA 8570614 Standard NM_032242 NM_032242 NA Approved NOV uc003ejg.3 Q9UIW2 ENST00000393409.2:c.3108C>T chr3.hg19:g.126735453C>T NA hg19 CCDS33847.2 0.02 18.747408 CACxAAC COVERED NOVEL PLXNA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000356451.1 3 20.45451 KEEP 0 0 0 68 2410 CC 1 1 0 + 12 60 445 0 0 25.825557 472 60 17410 695 ENST00000393409.2 0.024793 1 PLXNA1 5361 __UNKNOWN__ __UNKNOWN__ 3 126746690 126746690 __UNKNOWN__ Intron SNP A A G rs9851451 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:126746690A>G ENST00000393409.2 + 23 4362 PLXNA1_ENST00000251772.4_Intron NM_032242.3 NP_115618.3 Q9UIW2 PLXA1_HUMAN plexin A1 NA NA axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116) receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154) breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) tctcctTGCCAGGAACACCAT 0.607 NA g||| 1757 0.350839 0.6407 0.2032 5008 , , NA 9233 0.2817 NA 0.2604 False NA ,,, NA NA NA 2504 0.228 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X87832 CCDS33847.1, CCDS33847.2 3q21.2 2006-12-19 ENSG00000114554 5361 Plexins 9099 protein-coding gene gene with protein product 601055 PLXN1 NA 8570614 Standard NM_032242 NM_032242 NA Approved NOV uc003ejg.3 Q9UIW2 ENST00000393409.2:c.4363-93A>G chr3.hg19:g.126746690A>G NA hg19 CCDS33847.2 0.02 3.995223 GCCxGGA COVERED NOVEL PLXNA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000356451.1 0 8.124262 KEEP 0 0 0 27 848 AA 0.999988 0.999988 0 + 7 60 247 0 0 15.84676 139 60 5175 206 ENST00000393409.2 0.047945 1 PLXNA1 5361 __UNKNOWN__ __UNKNOWN__ 3 126748689 126748689 __UNKNOWN__ Intron SNP C C T rs2241676 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:126748689C>T ENST00000393409.2 + 27 4870 PLXNA1_ENST00000251772.4_Intron NM_032242.3 NP_115618.3 Q9UIW2 PLXA1_HUMAN plexin A1 NA NA axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116) receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154) breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) TGCCAGCCAACGCGGGCGCTG 0.692 NA C||| 496 0.0990415 0.0749 0.0317 5008 , , NA 13776 0.1528 NA 0.0567 False NA ,,, NA NA NA 2504 0.1677 NA NA NA NA 0 C 289,4055 7,275,1890 11 12 12 -3.9 0 3 dbSNP_98 12 385,8015 10,365,3825 no intron PLXNA1 NM_032242.3 17,640,5715 TT,TC,CC 4.5833,6.6529,5.2888 126748689 674,12070 2172 4200 6372 SO:0001627 intron_variant X87832 CCDS33847.1, CCDS33847.2 3q21.2 2006-12-19 ENSG00000114554 5361 Plexins 9099 protein-coding gene gene with protein product 601055 PLXN1 NA 8570614 Standard NM_032242 NM_032242 NA Approved NOV uc003ejg.3 Q9UIW2 ENST00000393409.2:c.4871-28C>T chr3.hg19:g.126748689C>T NA hg19 CCDS33847.2 0.02 1.760262 CAAxGCG COVERED NOVEL PLXNA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000356451.1 0 4.815681 KEEP 0 0 0 16 569 CC 0.997832 0.99732 0 + 4 60 142 0 0 9.149332 79 60 2722 106 ENST00000393409.2 0.048193 0.999487 PLXNA1 5361 __UNKNOWN__ __UNKNOWN__ 3 126754644 126754644 __UNKNOWN__ 3'UTR SNP G G C rs9856665 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:126754644G>C ENST00000393409.2 + 0 7475 PLXNA1_ENST00000251772.4_3'UTR NM_032242.3 NP_115618.3 Q9UIW2 PLXA1_HUMAN plexin A1 NA NA axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116) receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154) breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) GTCCGCCCCAGCTGAGTAGCG 0.642 NA C||| 2255 0.45028 0.7148 0.2363 5008 , , NA 14822 0.4355 NA 0.3161 False NA ,,, NA NA NA 2504 0.3978 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X87832 CCDS33847.1, CCDS33847.2 3q21.2 2006-12-19 ENSG00000114554 5361 Plexins 9099 protein-coding gene gene with protein product 601055 PLXN1 NA 8570614 Standard NM_032242 NM_032242 NA Approved NOV uc003ejg.3 Q9UIW2 ENST00000393409.2:c.*1784G>C chr3.hg19:g.126754644G>C NA hg19 CCDS33847.2 0.02 9.415064 CCAxCTG COVERED NOVEL PLXNA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000356451.1 2 23.449847 KEEP 0 0 0 78 2752 GG 1 1 0 + 19 60 691 0 0 49.622835 213 60 7923 391 ENST00000393409.2 0.081897 1 PLXNA1 5361 __UNKNOWN__ __UNKNOWN__ 3 126754711 126754711 __UNKNOWN__ 3'UTR SNP G G A rs77009675 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:126754711G>A ENST00000393409.2 + 0 7542 PLXNA1_ENST00000251772.4_3'UTR NM_032242.3 NP_115618.3 Q9UIW2 PLXA1_HUMAN plexin A1 NA NA axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116) receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154) breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) TCGGTGTGGAGTCAGTGACTG 0.672 NA G||| 593 0.118411 0.1475 0.0519 5008 , , NA 16235 0.2143 NA 0.0427 False NA ,,, NA NA NA 2504 0.1053 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X87832 CCDS33847.1, CCDS33847.2 3q21.2 2006-12-19 ENSG00000114554 5361 Plexins 9099 protein-coding gene gene with protein product 601055 PLXN1 NA 8570614 Standard NM_032242 NM_032242 NA Approved NOV uc003ejg.3 Q9UIW2 ENST00000393409.2:c.*1851G>A chr3.hg19:g.126754711G>A NA hg19 CCDS33847.2 0.02 8.530583 GGAxTCA COVERED NOVEL PLXNA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000356451.1 3 24.077094 KEEP 0 0 0 80 2827 GG 1 1 0 + 7 60 262 0 0 16.101387 211 60 7861 369 ENST00000393409.2 0.03211 1 PLXNA1 5361 __UNKNOWN__ __UNKNOWN__ 3 126755134 126755134 __UNKNOWN__ 3'UTR SNP C C T rs3749395 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:126755134C>T ENST00000393409.2 + 0 7965 PLXNA1_ENST00000251772.4_3'UTR NM_032242.3 NP_115618.3 Q9UIW2 PLXA1_HUMAN plexin A1 NA NA axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116) receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154) breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) CTCCTTAGGCCTTGTGCTCTG 0.602 NA C||| 1061 0.211861 0.2005 0.0778 5008 , , NA 18618 0.3343 NA 0.1451 False NA ,,, NA NA NA 2504 0.2648 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X87832 CCDS33847.1, CCDS33847.2 3q21.2 2006-12-19 ENSG00000114554 5361 Plexins 9099 protein-coding gene gene with protein product 601055 PLXN1 NA 8570614 Standard NM_032242 NM_032242 NA Approved NOV uc003ejg.3 Q9UIW2 ENST00000393409.2:c.*2274C>T chr3.hg19:g.126755134C>T NA hg19 CCDS33847.2 0.02 15.081476 GGCxTTG COVERED NOVEL PLXNA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000356451.1 2 22.838429 KEEP 0 0 0 76 2640 CC 1 1 0 + 14 60 511 0 0 31.755102 366 60 13783 544 ENST00000393409.2 0.036842 1 MGLL 11343 __UNKNOWN__ __UNKNOWN__ 3 127454782 127454782 __UNKNOWN__ 5'UTR SNP T T C rs377208022 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:127454782T>C ENST00000398101.3 - 0 418 MGLL_ENST00000453507.2_Intron|MGLL_ENST00000398104.1_Intron|MGLL_ENST00000265052.5_Intron|MGLL_ENST00000434178.2_Intron Q99685 MGLL_HUMAN monoglyceride lipase NA NA acylglycerol acyl-chain remodeling (GO:0036155)|acylglycerol catabolic process (GO:0046464)|arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|fatty acid biosynthetic process (GO:0006633)|glycerophospholipid biosynthetic process (GO:0046474)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|long term synaptic depression (GO:0060292)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|regulation of endocannabinoid signaling pathway (GO:2000124)|regulation of inflammatory response (GO:0050727)|regulation of sensory perception of pain (GO:0051930)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433) endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)|synapse (GO:0045202) acylglycerol lipase activity (GO:0047372)|lipid binding (GO:0008289)|lysophospholipase activity (GO:0004622)|protein homodimerization activity (GO:0042803) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2) 6 gttagaatcctggctctctta 0.458 NA T||| 1 0.000199681 0.0 0.0 5008 , , NA 21321 0.0 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant BC000551 CCDS43148.1, CCDS46902.1, CCDS58852.1 3p13-q13.33 2014-03-14 ENSG00000074416 ENSG00000074416 11343 3.1.1.23 17038 protein-coding gene gene with protein product 609699 NA 9495531 Standard NM_007283 NM_007283 NA Approved HU-K5, MGL uc003ejx.4 Q99685 OTTHUMG00000159641 ENST00000398101.3:c.-81A>G chr3.hg19:g.127454782T>C NA B3KRC2|B7Z9D1|Q6IBG9|Q96AA5 hg19 0.02 9.708277 TCCxGGC COVERED NOVEL MGLL-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000356720.1 0 17.452544 KEEP 0 0 0 58 1850 TT 1 1 0 - 11 60 378 0 0 22.764459 278 60 10438 408 ENST00000398101.3 0.038062 1 EEFSEC 60678 __UNKNOWN__ __UNKNOWN__ 3 127983495 127983495 __UNKNOWN__ Silent SNP T T C rs2811544 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:127983495T>C ENST00000254730.6 + 4 711 c.657T>C c.(655-657)gaT>gaC p.D219D EEFSEC_ENST00000483457.1_Intron NM_021937.3 NP_068756.2 P57772 SELB_HUMAN eukaryotic elongation factor, selenocysteine-tRNA-specific 219 NA selenocysteine incorporation (GO:0001514) mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529) GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)|translation elongation factor activity (GO:0003746)|tRNA binding (GO:0000049) NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1) 25 CAACGAGAGATCCCTCGGGAC 0.567 NA C||| 4229 0.844449 0.6989 0.8617 5008 , , NA 22052 0.9931 NA 0.8847 False NA ,,, NA NA NA 2504 0.8344 NA NA NA NA 0 C 3156,1250 427.0+/-341.4 1132,892,179 177 162 167 657 2.5 1 3 dbSNP_100 167 7525,1075 225.5+/-261.6 3285,955,60 no coding-synonymous EEFSEC NM_021937.3 4417,1847,239 CC,CT,TT 12.5,28.3704,17.8764 219/597 127983495 10681,2325 2203 4300 6503 SO:0001819 synonymous_variant CCDS33849.1 3q21.3 2007-05-25 ENSG00000132394 ENSG00000132394 60678 24614 protein-coding gene gene with protein product elongation factor for selenoprotein translation 607695 NA 10970870, 15229221 Standard NM_021937 XM_005247696 NA Approved SELB, EFSEC uc003eki.3 P57772 OTTHUMG00000159659 ENST00000254730.6:c.657T>C chr3.hg19:g.127983495T>C NA Q96HZ6 hg19 CCDS33849.1 0.02 9.215125 AGAxCCC COVERED NOVEL EEFSEC-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000356738.2 2 24.878475 KEEP 0 1 35 95 2867 TT 1 1 0 + 13 60 471 0 0 31.559081 219 60 7830 428 ENST00000254730.6 0.056034 1 RP11-723O4.2 0 __UNKNOWN__ __UNKNOWN__ 3 128580574 128580574 __UNKNOWN__ RNA SNP T T C rs789248 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:128580574T>C ENST00000498297.1 - 0 879 RP11-723O4.2_ENST00000480931.1_RNA NR_034179.1 NA NA NA CAGTTACCTGTGGCACCTCCA 0.587 NA t||| 2653 0.529752 0.6233 0.428 5008 , , NA 19916 0.6746 NA 0.3519 False NA ,,, NA NA NA 2504 0.5092 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000498297.1: chr3.hg19:g.128580574T>C NA hg19 0.02 4.867542 CTGxGGC COVERED NOVEL RP11-723O4.2-001 KNOWN basic antisense NA antisense OTTHUMT00000357491.1 2 7.822793 KEEP 0 0 0 26 810 TT 0.999957 0.999957 0 - 9 60 334 0 0 22.943509 140 60 4885 215 ENST00000498297.1 0.060403 1 RP11-723O4.2 0 __UNKNOWN__ __UNKNOWN__ 3 128580585 128580585 __UNKNOWN__ RNA SNP C C A rs789247 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:128580585C>A ENST00000498297.1 - 0 868 RP11-723O4.2_ENST00000480931.1_RNA NR_034179.1 NA NA NA GGCACCTCCACGGCAGAAATG 0.587 NA C||| 1641 0.327676 0.3525 0.2695 5008 , , NA 20008 0.5645 NA 0.1879 False NA ,,, NA NA NA 2504 0.2352 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000498297.1: chr3.hg19:g.128580585C>A NA hg19 0.02 4.069186 CCAxGGC COVERED NOVEL RP11-723O4.2-001 KNOWN basic antisense NA antisense OTTHUMT00000357491.1 1 7.523246 KEEP 0 0 0 25 858 CC 0.999931 0.999931 0 - 7 60 251 0 0 16.204286 141 60 5078 220 ENST00000498297.1 0.047297 1 ACAD9 28976 __UNKNOWN__ __UNKNOWN__ 3 128612659 128612659 __UNKNOWN__ Intron SNP G G C rs1680780 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:128612659G>C ENST00000308982.7 + 3 427 NM_014049.4 NP_054768.2 Q9H845 ACAD9_HUMAN acyl-CoA dehydrogenase family, member 9 NA NA dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634) acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660) central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 30 AAGTGTTCTCGGGTCCTGTGC 0.542 NA G||| 2315 0.46226 0.7057 0.4063 5008 , , NA 19801 0.5714 NA 0.2763 False NA ,,, NA NA NA 2504 0.2515 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF078854 CCDS3053.1 3q21.3 2013-05-24 2010-04-30 ENSG00000177646 ENSG00000177646 28976 Mitochondrial respiratory chain complex assembly factors 21497 protein-coding gene gene with protein product 611103 acyl-Coenzyme A dehydrogenase family, member 9 NA 12359260, 21057504, 20816094 Standard NM_014049 NM_014049 NA Approved NPD002, MGC14452 uc003ela.4 Q9H845 OTTHUMG00000159942 ENST00000308982.7:c.346+160G>C chr3.hg19:g.128612659G>C NA D3DNB8|Q8WXX3 hg19 CCDS3053.1 0.02 3.777398 CTCxGGT COVERED NOVEL ACAD9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000358405.1 2 2.407528 KEEP 0 0 0 8 266 GG 0.99257 0.992567 0 + 13 60 419 0 0 30.542649 101 60 3549 127 ENST00000308982.7 0.114035 0.999997 ACAD9 28976 __UNKNOWN__ __UNKNOWN__ 3 128614133 128614133 __UNKNOWN__ Intron SNP C C T rs1683791 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:128614133C>T ENST00000308982.7 + 4 427 NM_014049.4 NP_054768.2 Q9H845 ACAD9_HUMAN acyl-CoA dehydrogenase family, member 9 NA NA dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634) acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660) central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 30 CTGTGATTGACGCTGGTCCAT 0.458 NA T||| 3296 0.658147 0.9539 0.5634 5008 , , NA 19200 0.6806 NA 0.4404 False NA ,,, NA NA NA 2504 0.5266 NA NA NA NA 0 T 3787,619 258.0+/-262.2 1627,533,43 83 69 74 -4.7 0 3 dbSNP_89 74 3768,4832 588.3+/-392.3 821,2126,1353 no intron ACAD9 NM_014049.4 2448,2659,1396 TT,TC,CC 43.814,14.049,41.9114 128614133 7555,5451 2203 4300 6503 SO:0001627 intron_variant AF078854 CCDS3053.1 3q21.3 2013-05-24 2010-04-30 ENSG00000177646 ENSG00000177646 28976 Mitochondrial respiratory chain complex assembly factors 21497 protein-coding gene gene with protein product 611103 acyl-Coenzyme A dehydrogenase family, member 9 NA 12359260, 21057504, 20816094 Standard NM_014049 NM_014049 NA Approved NPD002, MGC14452 uc003ela.4 Q9H845 OTTHUMG00000159942 ENST00000308982.7:c.347-20C>T chr3.hg19:g.128614133C>T NA D3DNB8|Q8WXX3 hg19 CCDS3053.1 0.02 9.553191 TGAxGCT COVERED NOVEL ACAD9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000358405.1 0 10.230585 KEEP 0 0 0 34 1136 CC 0.999998 0.999998 0 + 20 60 736 0 0 54.694263 185 60 6541 286 ENST00000308982.7 0.097561 1 ACAD9 28976 __UNKNOWN__ __UNKNOWN__ 3 128614185 128614185 __UNKNOWN__ Silent SNP A A C rs1680778 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:128614185A>C ENST00000308982.7 + 4 460 c.379A>C c.(379-381)Aga>Cga p.R127R NM_014049.4 NP_054768.2 Q9H845 ACAD9_HUMAN acyl-CoA dehydrogenase family, member 9 127 NA dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634) acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660) central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 30 CATGTACTCAAGACTAGGGGA 0.552 NA C||| 2721 0.543331 0.851 0.428 5008 , , NA 19128 0.623 NA 0.2932 False NA ,,, NA NA NA 2504 0.3845 NA NA NA NA 0 C 3267,1139 401.0+/-331.8 1218,831,154 107 88 94 379 5.5 0 3 dbSNP_89 94 2589,6011 683.9+/-403.9 399,1791,2110 no coding-synonymous ACAD9 NM_014049.4 1617,2622,2264 CC,CA,AA 30.1047,25.8511,45.0254 127/622 128614185 5856,7150 2203 4300 6503 SO:0001819 synonymous_variant AF078854 CCDS3053.1 3q21.3 2013-05-24 2010-04-30 ENSG00000177646 ENSG00000177646 28976 Mitochondrial respiratory chain complex assembly factors 21497 protein-coding gene gene with protein product 611103 acyl-Coenzyme A dehydrogenase family, member 9 NA 12359260, 21057504, 20816094 Standard NM_014049 NM_014049 NA Approved NPD002, MGC14452 uc003ela.4 Q9H845 OTTHUMG00000159942 ENST00000308982.7:c.379A>C chr3.hg19:g.128614185A>C NA D3DNB8|Q8WXX3 hg19 CCDS3053.1 0.02 12.195691 TCAxGAC COVERED NOVEL ACAD9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000358405.1 0 12.635222 KEEP 0 0 0 42 1332 AA 1 1 0 + 25 60 885 0 0 64.550046 242 60 8926 384 ENST00000308982.7 0.093633 1 ACAD9 28976 __UNKNOWN__ __UNKNOWN__ 3 128616325 128616325 __UNKNOWN__ Intron SNP C C T rs1683804 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:128616325C>T ENST00000308982.7 + 6 635 NM_014049.4 NP_054768.2 Q9H845 ACAD9_HUMAN acyl-CoA dehydrogenase family, member 9 NA NA dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634) acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660) central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 30 agacatcctgcagcttggaaa 0.438 NA T||| 3246 0.648163 0.9523 0.5086 5008 , , NA 20468 0.6726 NA 0.4384 False NA ,,, NA NA NA 2504 0.5266 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF078854 CCDS3053.1 3q21.3 2013-05-24 2010-04-30 ENSG00000177646 ENSG00000177646 28976 Mitochondrial respiratory chain complex assembly factors 21497 protein-coding gene gene with protein product 611103 acyl-Coenzyme A dehydrogenase family, member 9 NA 12359260, 21057504, 20816094 Standard NM_014049 NM_014049 NA Approved NPD002, MGC14452 uc003ela.4 Q9H845 OTTHUMG00000159942 ENST00000308982.7:c.555-150C>T chr3.hg19:g.128616325C>T NA D3DNB8|Q8WXX3 hg19 CCDS3053.1 0.02 6.561873 CTGxAGC COVERED NOVEL ACAD9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000358405.1 2 7.223511 KEEP 0 0 0 24 842 CC 0.999909 0.999909 0 + 10 60 366 0 0 25.137092 150 60 5430 196 ENST00000308982.7 0.0625 1 ACAD9 28976 __UNKNOWN__ __UNKNOWN__ 3 128616359 128616359 __UNKNOWN__ Intron SNP C C G rs789213 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:128616359C>G ENST00000308982.7 + 6 635 NM_014049.4 NP_054768.2 Q9H845 ACAD9_HUMAN acyl-CoA dehydrogenase family, member 9 NA NA dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634) acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660) central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 30 tctgacccttcattttaaaag 0.423 NA C||| 1629 0.32528 0.3434 0.2695 5008 , , NA 21091 0.5625 NA 0.1879 False NA ,,, NA NA NA 2504 0.2372 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF078854 CCDS3053.1 3q21.3 2013-05-24 2010-04-30 ENSG00000177646 ENSG00000177646 28976 Mitochondrial respiratory chain complex assembly factors 21497 protein-coding gene gene with protein product 611103 acyl-Coenzyme A dehydrogenase family, member 9 NA 12359260, 21057504, 20816094 Standard NM_014049 NM_014049 NA Approved NPD002, MGC14452 uc003ela.4 Q9H845 OTTHUMG00000159942 ENST00000308982.7:c.555-116C>G chr3.hg19:g.128616359C>G NA D3DNB8|Q8WXX3 hg19 CCDS3053.1 0.02 11.519664 CTTxATT COVERED NOVEL ACAD9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000358405.1 2 13.242052 KEEP 0 0 0 44 1514 CC 1 1 0 + 9 60 348 0 0 22.222249 244 60 9000 341 ENST00000308982.7 0.035573 1 ACAD9 28976 __UNKNOWN__ __UNKNOWN__ 3 128620004 128620004 __UNKNOWN__ Intron SNP C C T rs76439060 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:128620004C>T ENST00000308982.7 + 8 889 ACAD9_ENST00000511526.1_Intron NM_014049.4 NP_054768.2 Q9H845 ACAD9_HUMAN acyl-CoA dehydrogenase family, member 9 NA NA dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634) acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660) central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 30 tctatactgTCCTACCAAACA 0.388 NA C||| 32 0.00638978 0.0 0.0 5008 , , NA 20839 0.0298 NA 0.0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF078854 CCDS3053.1 3q21.3 2013-05-24 2010-04-30 ENSG00000177646 ENSG00000177646 28976 Mitochondrial respiratory chain complex assembly factors 21497 protein-coding gene gene with protein product 611103 acyl-Coenzyme A dehydrogenase family, member 9 NA 12359260, 21057504, 20816094 Standard NM_014049 NM_014049 NA Approved NPD002, MGC14452 uc003ela.4 Q9H845 OTTHUMG00000159942 ENST00000308982.7:c.809-115C>T chr3.hg19:g.128620004C>T NA D3DNB8|Q8WXX3 hg19 CCDS3053.1 0.02 3.741948 TGTxCTA COVERED NOVEL ACAD9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000358405.1 1 6.009486 KEEP 0 0 0 20 654 CC 0.999863 0.999861 0 + 6 60 210 0 0 13.566603 112 60 4193 158 ENST00000308982.7 0.050847 0.999998 ACAD9 28976 __UNKNOWN__ __UNKNOWN__ 3 128622760 128622760 __UNKNOWN__ Intron SNP G G T rs1683776 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:128622760G>T ENST00000308982.7 + 10 1039 ACAD9_ENST00000511526.1_Intron NM_014049.4 NP_054768.2 Q9H845 ACAD9_HUMAN acyl-CoA dehydrogenase family, member 9 NA NA dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634) acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660) central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 30 GCAAGTGGGGGTGCCAGCTTC 0.547 NA G||| 1486 0.296725 0.2352 0.2608 5008 , , NA 18847 0.5675 NA 0.1899 False NA ,,, NA NA NA 2504 0.2362 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF078854 CCDS3053.1 3q21.3 2013-05-24 2010-04-30 ENSG00000177646 ENSG00000177646 28976 Mitochondrial respiratory chain complex assembly factors 21497 protein-coding gene gene with protein product 611103 acyl-Coenzyme A dehydrogenase family, member 9 NA 12359260, 21057504, 20816094 Standard NM_014049 NM_014049 NA Approved NPD002, MGC14452 uc003ela.4 Q9H845 OTTHUMG00000159942 ENST00000308982.7:c.959-145G>T chr3.hg19:g.128622760G>T NA D3DNB8|Q8WXX3 hg19 CCDS3053.1 0.02 1.932436 GGGxTGC COVERED NOVEL ACAD9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000358405.1 2 2.708525 KEEP 0 0 0 9 305 GG 0.99254 0.960208 0 + 4 60 137 0 0 9.48659 48 60 1703 62 ENST00000308982.7 0.076923 0.967425 ACAD9 28976 __UNKNOWN__ __UNKNOWN__ 3 128624880 128624880 __UNKNOWN__ Intron SNP T T G rs1683777 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:128624880T>G ENST00000308982.7 + 12 1230 ACAD9_ENST00000511526.1_Intron NM_014049.4 NP_054768.2 Q9H845 ACAD9_HUMAN acyl-CoA dehydrogenase family, member 9 NA NA dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634) acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660) central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 30 CCCAAGCCCGTGTGCCTCCCA 0.612 NA G||| 2640 0.527157 0.7882 0.4251 5008 , , NA 18122 0.626 NA 0.2952 False NA ,,, NA NA NA 2504 0.3834 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF078854 CCDS3053.1 3q21.3 2013-05-24 2010-04-30 ENSG00000177646 ENSG00000177646 28976 Mitochondrial respiratory chain complex assembly factors 21497 protein-coding gene gene with protein product 611103 acyl-Coenzyme A dehydrogenase family, member 9 NA 12359260, 21057504, 20816094 Standard NM_014049 NM_014049 NA Approved NPD002, MGC14452 uc003ela.4 Q9H845 OTTHUMG00000159942 ENST00000308982.7:c.1150-84T>G chr3.hg19:g.128624880T>G NA D3DNB8|Q8WXX3 hg19 CCDS3053.1 0.02 -0.438533 CCGxGTG COVERED NOVEL ACAD9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000358405.1 0 3.008569 KEEP 0 0 0 10 296 TT 0.992708 0.952859 0 + 4 60 141 0 0 9.957412 46 60 1573 62 ENST00000308982.7 0.08 0.959859 ACAD9 28976 __UNKNOWN__ __UNKNOWN__ 3 128627021 128627021 __UNKNOWN__ Intron SNP A A G rs1683787 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:128627021A>G ENST00000308982.7 + 13 1359 ACAD9_ENST00000511526.1_Intron NM_014049.4 NP_054768.2 Q9H845 ACAD9_HUMAN acyl-CoA dehydrogenase family, member 9 NA NA dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634) acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660) central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 30 TACACTACTGACCACAGGGAA 0.607 NA G||| 2595 0.518171 0.789 0.3703 5008 , , NA 20522 0.6181 NA 0.2952 False NA ,,, NA NA NA 2504 0.3834 NA NA NA NA 0 G 3054,1352 449.2+/-349.0 1060,934,209 183 182 182 1.2 0.8 3 dbSNP_89 182 2592,6008 689.3+/-404.4 396,1800,2104 no intron ACAD9 NM_014049.4 1456,2734,2313 GG,GA,AA 30.1395,30.6854,43.4107 128627021 5646,7360 2203 4300 6503 SO:0001627 intron_variant AF078854 CCDS3053.1 3q21.3 2013-05-24 2010-04-30 ENSG00000177646 ENSG00000177646 28976 Mitochondrial respiratory chain complex assembly factors 21497 protein-coding gene gene with protein product 611103 acyl-Coenzyme A dehydrogenase family, member 9 NA 12359260, 21057504, 20816094 Standard NM_014049 NM_014049 NA Approved NPD002, MGC14452 uc003ela.4 Q9H845 OTTHUMG00000159942 ENST00000308982.7:c.1279-7A>G chr3.hg19:g.128627021A>G NA D3DNB8|Q8WXX3 hg19 CCDS3053.1 0.02 12.002022 CTGxCCA COVERED NOVEL ACAD9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000358405.1 1 15.04622 KEEP 0 0 0 50 1608 AA 1 1 0 + 19 60 665 0 0 46.388416 236 60 8330 381 ENST00000308982.7 0.07451 1 ACAD9 28976 __UNKNOWN__ __UNKNOWN__ 3 128627753 128627753 __UNKNOWN__ Intron SNP T T C rs876754 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:128627753T>C ENST00000308982.7 + 14 1439 ACAD9_ENST00000511526.1_Intron NM_014049.4 NP_054768.2 Q9H845 ACAD9_HUMAN acyl-CoA dehydrogenase family, member 9 NA NA dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634) acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660) central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 30 GAATGGGCCATGTTGCTGGAC 0.612 NA C||| 2591 0.517372 0.7859 0.3703 5008 , , NA 18838 0.6181 NA 0.2952 False NA ,,, NA NA NA 2504 0.3834 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF078854 CCDS3053.1 3q21.3 2013-05-24 2010-04-30 ENSG00000177646 ENSG00000177646 28976 Mitochondrial respiratory chain complex assembly factors 21497 protein-coding gene gene with protein product 611103 acyl-Coenzyme A dehydrogenase family, member 9 NA 12359260, 21057504, 20816094 Standard NM_014049 NM_014049 NA Approved NPD002, MGC14452 uc003ela.4 Q9H845 OTTHUMG00000159942 ENST00000308982.7:c.1359-63T>C chr3.hg19:g.128627753T>C NA D3DNB8|Q8WXX3 hg19 CCDS3053.1 0.02 2.121283 CCAxGTT COVERED NOVEL ACAD9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000358405.1 1 3.609986 KEEP 0 0 0 12 361 TT 0.993634 0.992337 0 + 11 60 376 0 0 29.208925 65 60 2287 92 ENST00000308982.7 0.144737 0.998696 ACAD9 28976 __UNKNOWN__ __UNKNOWN__ 3 128627933 128627933 __UNKNOWN__ Silent SNP C C T rs876755 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:128627933C>T ENST00000308982.7 + 14 1557 c.1476C>T c.(1474-1476)ccC>ccT p.P492P ACAD9_ENST00000511526.1_3'UTR NM_014049.4 NP_054768.2 Q9H845 ACAD9_HUMAN acyl-CoA dehydrogenase family, member 9 492 NA dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634) acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660) central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 30 TTGTGCACCCCAGTCTTGCGG 0.592 NA C||| 1554 0.310304 0.2852 0.2651 5008 , , NA 19974 0.5665 NA 0.1899 False NA ,,, NA NA NA 2504 0.2362 NA NA NA NA 0 C 1173,3233 413.9+/-336.6 166,841,1196 56 50 52 1476 1.4 0.7 3 dbSNP_86 52 1876,6724 333.6+/-320.6 202,1472,2626 no coding-synonymous ACAD9 NM_014049.4 368,2313,3822 TT,TC,CC 21.814,26.6228,23.443 492/622 128627933 3049,9957 2203 4300 6503 SO:0001819 synonymous_variant AF078854 CCDS3053.1 3q21.3 2013-05-24 2010-04-30 ENSG00000177646 ENSG00000177646 28976 Mitochondrial respiratory chain complex assembly factors 21497 protein-coding gene gene with protein product 611103 acyl-Coenzyme A dehydrogenase family, member 9 NA 12359260, 21057504, 20816094 Standard NM_014049 NM_014049 NA Approved NPD002, MGC14452 uc003ela.4 Q9H845 OTTHUMG00000159942 ENST00000308982.7:c.1476C>T chr3.hg19:g.128627933C>T NA D3DNB8|Q8WXX3 hg19 CCDS3053.1 0.02 16.237075 CCCxAGT COVERED NOVEL ACAD9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000358405.1 1 18.961589 KEEP 0 0 0 63 2271 CC 1 1 0 + 26 60 918 0 0 63.985723 325 60 12354 525 ENST00000308982.7 0.074074 1 RP11-723O4.6 0 __UNKNOWN__ __UNKNOWN__ 3 128643736 128643736 __UNKNOWN__ Intron SNP C C G rs2340467 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:128643736C>G ENST00000508239.1 - 5 1467 KIAA1257_ENST00000511438.1_Intron NA NA NA atcctcaccacctgcttcttt 0.463 NA C||| 1409 0.28135 0.1702 0.255 5008 , , NA 21042 0.5823 NA 0.1899 False NA ,,, NA NA NA 2504 0.2342 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000508239.1:c.1320+7875G>C chr3.hg19:g.128643736C>G NA hg19 0.02 -0.175467 CCAxCTG COVERED NOVEL RP11-723O4.6-001 KNOWN non_canonical_conserved|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000369697.1 0 5.718245 KEEP 0 0 0 19 661 CC 0.99986 0.387352 0 - 2 60 82 0 0 6.330819 18 60 674 55 ENST00000508239.1 0.1 0.387407 KIAA1257 57501 __UNKNOWN__ __UNKNOWN__ 3 128712378 128712378 __UNKNOWN__ Intron SNP A A G rs11916893 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:128712378A>G ENST00000265068.5 - 2 136 KIAA1257_ENST00000511438.1_5'UTR|KIAA1257_ENST00000510149.1_Intron NM_020741.2 NP_065792.1 Q9ULG3 K1257_HUMAN KIAA1257 NA NA breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2) 14 tGAAGGAACAACAGATAAGGG 0.577 NA A||| 528 0.105431 0.0272 0.1023 5008 , , NA 18635 0.13 NA 0.1093 False NA ,,, NA NA NA 2504 0.184 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB033083 CCDS46905.1 3q21.3 2011-11-07 ENSG00000114656 ENSG00000114656 57501 29231 protein-coding gene gene with protein product NA 10574462 Standard NM_020741 NM_020741 NA Approved uc003elj.4 Q9ULG3 OTTHUMG00000159946 ENST00000265068.5:c.32-199T>C chr3.hg19:g.128712378A>G NA Q8IXY7|Q8N5T4 hg19 CCDS46905.1 0.02 13.425886 ACAxCAG COVERED NOVEL KIAA1257-001 KNOWN basic|appris_principal|readthrough_transcript|CCDS protein_coding NA protein_coding OTTHUMT00000358430.1 5 45.134872 KEEP 0 0 0 150 4778 AA 1 1 0 - 13 60 496 0 0 31.812359 329 60 11754 605 ENST00000265068.5 0.038012 1 H1FX 8971 __UNKNOWN__ __UNKNOWN__ 3 129034821 129034821 __UNKNOWN__ 5'UTR SNP A A G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:129034821A>G ENST00000333762.4 - 0 299 H1FX-AS1_ENST00000511998.1_RNA|H1FX-AS1_ENST00000433902.2_RNA NM_006026.3 NP_006017.1 Q92522 H1X_HUMAN H1 histone family, member X NA NA nucleosome assembly (GO:0006334) nucleolus (GO:0005730)|nucleosome (GO:0000786)|nucleus (GO:0005634) DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822) kidney(1)|ovary(1)|urinary_tract(2) 4 cgaggggccgagggggtgcag 0.821 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant D64142 CCDS3057.1 3q21.3 2011-08-16 ENSG00000184897 ENSG00000184897 8971 Histones / Replication-independent 4722 protein-coding gene gene with protein product 602785 NA 8964515, 9439656 Standard NM_006026 NM_006026 NA Approved MGC15959, MGC8350, H1X uc003elx.3 Q92522 OTTHUMG00000159450 ENST00000333762.4:c.-76T>C chr3.hg19:g.129034821A>G NA hg19 CCDS3057.1 0.02 -0.198684 CCGxGGG COVERED NOVEL H1FX-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000355455.2 1 4.343533 KEEP 0 1 15 20 536 AA 0.999869 0.49048 0 - 5 60 91 0 0 6.308199 18 60 564 52 ENST00000333762.4 0.217391 0.490544 RPL32P3 132241 __UNKNOWN__ __UNKNOWN__ 3 129116641 129116641 __UNKNOWN__ RNA SNP G G A rs66819767 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:129116641G>A ENST00000514355.1 - 0 412 ribosomal protein L32 pseudogene 3 NA NA lung(1) 1 gcagccatcagttggcacaga 0.438 NA a||| 1063 0.21226 0.1528 0.1974 5008 , , NA 18984 0.4335 NA 0.1143 False NA ,,, NA NA NA 2504 0.1759 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AK096589, AL117606 3q21.3 2014-03-20 ENSG00000251474 ENSG00000251474 132241 27024 pseudogene pseudogene NA 12477932 Standard NR_003111 NA Approved uc003ema.4 OTTHUMG00000159465 ENST00000514355.1: chr3.hg19:g.129116641G>A NA hg19 0.02 1.737091 TCAxTTG COVERED NOVEL RPL32P3-003 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000355880.1 0 10.534408 KEEP 0 0 0 35 1253 GG 0.999999 0.999938 0 - 4 60 148 0 0 9.471601 93 60 3465 156 ENST00000514355.1 0.041237 0.99994 EFCAB12 90288 __UNKNOWN__ __UNKNOWN__ 3 129130197 129130197 __UNKNOWN__ Splice_Site SNP T T C rs9836111 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:129130197T>C ENST00000505956.1 - 5 1001 c.839A>G c.(838-840)cAt>cGt p.H280R EFCAB12_ENST00000326085.3_Splice_Site_p.H280R NM_207307.1 NP_997190.1 Q6NXP0 EFC12_HUMAN EF-hand calcium binding domain 12 280 NA H -> R (in dbSNP:rs9836111). calcium ion binding (GO:0005509) NA CAAGATATAATCTGGAGTCAG 0.562 NA C||| 757 0.151158 0.1309 0.1225 5008 , , NA 19359 0.4603 NA 0.002 False NA ,,, NA NA NA 2504 0.0337 NA NA NA NA 0 C ARG/HIS 418,3676 22,374,1651 50 51 51 839 -5.3 0 3 dbSNP_119 51 33,8351 1,31,4160 yes missense-near-splice C3orf25 NM_207307.1 29 23,405,5811 CC,CT,TT 0.3936,10.2101,3.6144 benign 280/573 129130197 451,12027 2047 4192 6239 SO:0001630 splice_region_variant AK096099 CCDS54638.1 3q21.3 2013-01-10 2012-07-20 2012-07-20 ENSG00000172771 ENSG00000172771 90288 EF-hand domain containing 28061 protein-coding gene gene with protein product chromosome 3 open reading frame 25 C3orf25 NA Standard NM_207307 NM_207307 NA Approved uc003emg.3 Q6NXP0 OTTHUMG00000159464 ENST00000505956.1:c.839-1A>G chr3.hg19:g.129130197T>C NA Q69YX4 hg19 CCDS54638.1 0.02 2.22465 TAAxCTG COVERED 359 0.16437728937728938 64 0.13008130081300814 40 0.11049723756906077 253 0.4423076923076923 2 0.002638522427440633 C 4.368 0.067849 0.08436 0.102101 0.003936 ENSG00000172771 ENST00000505956;ENST00000326085;ENST00000503957 T;T;T 0.28895 2.57;2.57;1.59 3.8 -5.34 0.02705 . 4.594920 0.00166 N 0.000011 T 0.00012 0.0000 N 0.19112 0.55 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.38090 -0.9677 9 0.25106 T 0.35 . 6.6196 0.22796 0.1252:0.4418:0.0:0.433 rs9836111;rs52817258;rs9836111 280 Q6NXP0 CC025_HUMAN R 280;280;130 ENSP00000420854:H280R;ENSP00000324241:H280R;ENSP00000421462:H130R ENSP00000324241:H280R H - 2 0 C3orf25 130612887 0.000000 0.05858 0.000000 0.03702 0.003000 0.03518 -0.836000 0.04382 -1.864000 0.01148 -1.212000 0.01626 CAT NOVEL EFCAB12-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000355530.1 0 7.822124 KEEP 0 0 0 26 815 TT 0.999957 0.999683 0 Missense_Mutation - 6 60 230 0 0 16.384496 81 60 2901 131 ENST00000505956.1 0.068966 0.999726 EFCAB12 90288 __UNKNOWN__ __UNKNOWN__ 3 129134242 129134242 __UNKNOWN__ Silent SNP G G A rs16859327 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:129134242G>A ENST00000505956.1 - 4 846 c.684C>T c.(682-684)gtC>gtT p.V228V EFCAB12_ENST00000326085.3_Silent_p.V228V NM_207307.1 NP_997190.1 Q6NXP0 EFC12_HUMAN EF-hand calcium binding domain 12 228 EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}. NA calcium ion binding (GO:0005509) NA GAGGGACTCCGACCTGAGGAG 0.537 NA G||| 758 0.151358 0.1309 0.1239 5008 , , NA 21003 0.4603 NA 0.002 False NA ,,, NA NA NA 2504 0.0337 NA NA NA NA 0 G 402,3570 22,358,1606 102 98 99 684 -9.7 0 3 dbSNP_123 99 35,8287 1,33,4127 no coding-synonymous C3orf25 NM_207307.1 23,391,5733 AA,AG,GG 0.4206,10.1208,3.5546 228/573 129134242 437,11857 1986 4161 6147 SO:0001819 synonymous_variant AK096099 CCDS54638.1 3q21.3 2013-01-10 2012-07-20 2012-07-20 ENSG00000172771 ENSG00000172771 90288 EF-hand domain containing 28061 protein-coding gene gene with protein product chromosome 3 open reading frame 25 C3orf25 NA Standard NM_207307 NM_207307 NA Approved uc003emg.3 Q6NXP0 OTTHUMG00000159464 ENST00000505956.1:c.684C>T chr3.hg19:g.129134242G>A NA Q69YX4 hg19 CCDS54638.1 0.02 2.222189 TCCxACC COVERED NOVEL EFCAB12-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000355530.1 0 11.737073 KEEP 0 0 0 39 1308 GG 1 0.998695 0 - 4 60 160 0 0 11.107927 72 60 2555 147 ENST00000505956.1 0.052632 0.998696 EFCAB12 90288 __UNKNOWN__ __UNKNOWN__ 3 129137127 129137127 __UNKNOWN__ Silent SNP G G A rs3796392 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:129137127G>A ENST00000505956.1 - 3 813 c.651C>T c.(649-651)acC>acT p.T217T EFCAB12_ENST00000326085.3_Silent_p.T217T NM_207307.1 NP_997190.1 Q6NXP0 EFC12_HUMAN EF-hand calcium binding domain 12 217 EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}. NA calcium ion binding (GO:0005509) NA ACTCCTCCCTGGTGATTCTCT 0.547 NA G||| 758 0.151358 0.1309 0.1239 5008 , , NA 16983 0.4603 NA 0.002 False NA ,,, NA NA NA 2504 0.0337 NA NA NA NA 0 G 405,3589 22,361,1614 55 52 53 651 3.7 1 3 dbSNP_107 53 33,8279 1,31,4124 no coding-synonymous C3orf25 NM_207307.1 23,392,5738 AA,AG,GG 0.397,10.1402,3.5592 217/573 129137127 438,11868 1997 4156 6153 SO:0001819 synonymous_variant AK096099 CCDS54638.1 3q21.3 2013-01-10 2012-07-20 2012-07-20 ENSG00000172771 ENSG00000172771 90288 EF-hand domain containing 28061 protein-coding gene gene with protein product chromosome 3 open reading frame 25 C3orf25 NA Standard NM_207307 NM_207307 NA Approved uc003emg.3 Q6NXP0 OTTHUMG00000159464 ENST00000505956.1:c.651C>T chr3.hg19:g.129137127G>A NA Q69YX4 hg19 CCDS54638.1 0.02 6.894462 CCTxGTG COVERED NOVEL EFCAB12-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000355530.1 1 30.399051 KEEP 0 0 0 101 3607 GG 1 1 0 - 10 60 371 0 0 25.772117 145 60 5514 340 ENST00000505956.1 0.064516 1 EFCAB12 90288 __UNKNOWN__ __UNKNOWN__ 3 129140499 129140499 __UNKNOWN__ Missense_Mutation SNP T T C rs3774787 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:129140499T>C ENST00000505956.1 - 2 359 c.197A>G c.(196-198)gAg>gGg p.E66G EFCAB12_ENST00000326085.3_Missense_Mutation_p.E66G NM_207307.1 NP_997190.1 Q6NXP0 EFC12_HUMAN EF-hand calcium binding domain 12 66 NA E -> G (in dbSNP:rs3774787). calcium ion binding (GO:0005509) NA TGTCTGATCCTCCTTGCGAGG 0.567 NA T||| 758 0.151358 0.1309 0.1239 5008 , , NA 19241 0.4603 NA 0.002 False NA ,,, NA NA NA 2504 0.0337 NA NA NA NA 0 T GLY/GLU 397,3507 22,353,1577 60 61 60 197 2.8 0 3 dbSNP_107 60 33,8261 1,31,4115 yes missense C3orf25 NM_207307.1 98 23,384,5692 CC,CT,TT 0.3979,10.1691,3.5252 probably-damaging 66/573 129140499 430,11768 1952 4147 6099 SO:0001583 missense AK096099 CCDS54638.1 3q21.3 2013-01-10 2012-07-20 2012-07-20 ENSG00000172771 ENSG00000172771 90288 EF-hand domain containing 28061 protein-coding gene gene with protein product chromosome 3 open reading frame 25 C3orf25 NA Standard NM_207307 NM_207307 NA Approved uc003emg.3 Q6NXP0 OTTHUMG00000159464 ENST00000505956.1:c.197A>G chr3.hg19:g.129140499T>C ENSP00000420854:p.Glu66Gly NA Q69YX4 hg19 CCDS54638.1 0.02 9.292652 TCCxCCT COVERED 359 0.16437728937728938 64 0.13008130081300814 40 0.11049723756906077 253 0.4423076923076923 2 0.002638522427440633 T 14.63 2.591628 0.46214 0.101691 0.003979 ENSG00000172771 ENST00000505956;ENST00000326085 T;T 0.16073 2.37;2.37 3.97 2.81 0.32909 . 0.441304 0.19102 N 0.122662 T 0.00012 0.0000 L 0.34521 1.04 0.80722 P 0.0 P 0.40731 0.728 P 0.44359 0.447 T 0.48055 -0.9068 9 0.66056 D 0.02 -12.898 6.0984 0.20033 0.0:0.1156:0.0:0.8844 rs3774787;rs52820508;rs60466249;rs3774787 66 Q6NXP0 CC025_HUMAN G 66 ENSP00000420854:E66G;ENSP00000324241:E66G ENSP00000324241:E66G E - 2 0 C3orf25 130623189 0.006000 0.16342 0.010000 0.14722 0.005000 0.04900 0.979000 0.29500 0.862000 0.35528 0.533000 0.62120 GAG NOVEL EFCAB12-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000355530.1 2 22.537671 KEEP 0 0 0 75 2247 TT 1 1 0 - 17 60 620 0 0 43.271218 229 60 8356 364 ENST00000505956.1 0.069106 1 EFCAB12 90288 __UNKNOWN__ __UNKNOWN__ 3 129140738 129140738 __UNKNOWN__ Intron SNP A A T rs60414131 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:129140738A>T ENST00000505956.1 - 2 212 EFCAB12_ENST00000326085.3_Intron NM_207307.1 NP_997190.1 Q6NXP0 EFC12_HUMAN EF-hand calcium binding domain 12 NA NA calcium ion binding (GO:0005509) NA AGGCTGGGCAACAGGGCCCTG 0.493 NA T||| 2011 0.401558 0.5885 0.2579 5008 , , NA 20177 0.5248 NA 0.16 False NA ,,, NA NA NA 2504 0.3722 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK096099 CCDS54638.1 3q21.3 2013-01-10 2012-07-20 2012-07-20 ENSG00000172771 ENSG00000172771 90288 EF-hand domain containing 28061 protein-coding gene gene with protein product chromosome 3 open reading frame 25 C3orf25 NA Standard NM_207307 NM_207307 NA Approved uc003emg.3 Q6NXP0 OTTHUMG00000159464 ENST00000505956.1:c.50-92T>A chr3.hg19:g.129140738A>T NA Q69YX4 hg19 CCDS54638.1 0.02 3.888734 GCAxCAG COVERED NOVEL EFCAB12-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000355530.1 0 3.911104 KEEP 0 0 0 13 389 AA 0.994391 0.99439 0 - 13 60 460 0 0 34.134752 111 60 3842 148 ENST00000505956.1 0.104839 0.999999 MBD4 8930 __UNKNOWN__ __UNKNOWN__ 3 129151927 129151927 __UNKNOWN__ Intron SNP G G A rs140697 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:129151927G>A ENST00000249910.1 - 6 1737 MBD4_ENST00000429544.2_Intron|MBD4_ENST00000503197.1_Intron|MBD4_ENST00000507208.1_Intron|MBD4_ENST00000393278.2_Intron NM_003925.1 NP_003916.1 O95243 MBD4_HUMAN methyl-CpG binding domain protein 4 NA NA base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314) chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696) NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1) 22 TCCTTTGGGTGTATAGGAAAA 0.378 NA Base excision repair (BER), DNA glycosylases A||| 1811 0.361621 0.5484 0.2378 5008 , , NA 19440 0.5099 NA 0.1143 False NA ,,, NA NA NA 2504 0.2986 NA NA NA NA 0 A 2049,2357 608.4+/-391.2 468,1113,622 108 115 113 -8.6 0 3 dbSNP_78 113 916,7684 777.7+/-407.7 48,820,3432 no intron MBD4 NM_003925.1 516,1933,4054 AA,AG,GG 10.6512,46.5048,22.7972 129151927 2965,10041 2203 4300 6503 SO:0001627 intron_variant AF072250 CCDS3058.1, CCDS63766.1, CCDS63767.1, CCDS63768.1, CCDS63769.1 3q21.3 2004-03-02 ENSG00000129071 ENSG00000129071 8930 6919 protein-coding gene gene with protein product 603574 NA 9774669, 10097147 Standard NM_003925 NM_003925 NA Approved MED1 uc003emh.2 O95243 OTTHUMG00000159463 ENST00000249910.1:c.1561+13C>T chr3.hg19:g.129151927G>A NA B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09 hg19 CCDS3058.1 0.02 14.022673 GGTxTAT COVERED NOVEL MBD4-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000355529.1 1 34.312305 KEEP 0 0 0 114 4074 GG 1 1 0 - 15 60 545 0 0 35.152753 316 60 11889 544 ENST00000249910.1 0.045317 1 MBD4 8930 __UNKNOWN__ __UNKNOWN__ 3 129155451 129155451 __UNKNOWN__ Missense_Mutation SNP C C T rs140693 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:129155451C>T ENST00000249910.1 - 3 1211 c.1036G>A c.(1036-1038)Gag>Aag p.E346K MBD4_ENST00000429544.2_Missense_Mutation_p.E346K|MBD4_ENST00000509587.1_Intron|MBD4_ENST00000503197.1_Missense_Mutation_p.E346K|MBD4_ENST00000507208.1_Missense_Mutation_p.E346K|MBD4_ENST00000393278.2_Intron NM_003925.1 NP_003916.1 O95243 MBD4_HUMAN methyl-CpG binding domain protein 4 346 NA E -> K (in dbSNP:rs140693). {ECO:0000269|Ref.8}. base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314) chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696) NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1) 22 TCATACTTCTCGTTGTGTTCT 0.333 NA Base excision repair (BER), DNA glycosylases C||| 554 0.110623 0.0166 0.111 5008 , , NA 21106 0.4187 NA 0.002 False NA ,,, NA NA NA 2504 0.0317 NA NA NA NA 0 GRCh37 CM067695 MBD4 M rs140693 C LYS/GLU 97,4309 77.8+/-116.1 0,97,2106 111 117 115 1036 -3.7 0 3 dbSNP_78 115 32,8568 21.0+/-64.5 1,30,4269 yes missense MBD4 NM_003925.1 56 1,127,6375 TT,TC,CC 0.3721,2.2015,0.9918 benign 346/581 129155451 129,12877 2203 4300 6503 SO:0001583 missense AF072250 CCDS3058.1, CCDS63766.1, CCDS63767.1, CCDS63768.1, CCDS63769.1 3q21.3 2004-03-02 ENSG00000129071 ENSG00000129071 8930 6919 protein-coding gene gene with protein product 603574 NA 9774669, 10097147 Standard NM_003925 NM_003925 NA Approved MED1 uc003emh.2 O95243 OTTHUMG00000159463 ENST00000249910.1:c.1036G>A chr3.hg19:g.129155451C>T ENSP00000249910:p.Glu346Lys NA B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09 hg19 CCDS3058.1 0.02 15.035783 TCTxGTT COVERED 273 0.125 11 0.022357723577235773 35 0.09668508287292818 225 0.39335664335664333 2 0.002638522427440633 C 9.301 1.052994 0.19907 0.022015 0.003721 ENSG00000129071 ENST00000429544;ENST00000249910;ENST00000503197;ENST00000507208 D;D;D;D 0.93953 -3.11;-3.11;-3.32;-3.32 4.85 -3.74 0.04385 . 1.322790 0.05363 N 0.534022 T 0.00012 0.0000 N 0.08118 0 0.80722 P 0.0 B;B;B;B 0.15141 0.006;0.006;0.012;0.003 B;B;B;B 0.10450 0.003;0.004;0.005;0.002 T 0.08249 -1.0731 9 0.09084 T 0.74 0.1894 9.8936 0.41304 0.0:0.7613:0.1205:0.1181 rs140693;rs3733143;rs16859514;rs52837417;rs60793507;rs140693 346;346;346;346 E9PEE4;O95243-2;O95243-3;O95243 .;.;.;MBD4_HUMAN K 346 ENSP00000394080:E346K;ENSP00000249910:E346K;ENSP00000424873:E346K;ENSP00000422327:E346K ENSP00000249910:E346K E - 1 0 MBD4 130638141 0.000000 0.05858 0.000000 0.03702 0.107000 0.19398 -1.958000 0.01519 -1.333000 0.02247 -0.355000 0.07637 GAG NOVEL MBD4-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000355529.1 2 30.09357 KEEP 0 0 0 100 3305 CC 1 1 0 - 15 60 552 0 0 35.037293 359 60 12337 540 ENST00000249910.1 0.040107 1 IFT122 55764 __UNKNOWN__ __UNKNOWN__ 3 129231433 129231433 __UNKNOWN__ Intron SNP G G C rs2285355 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:129231433G>C ENST00000348417.2 + 24 3064 IFT122_ENST00000349441.2_Intron|IFT122_ENST00000440957.2_Intron|IFT122_ENST00000507564.1_Intron|IFT122_ENST00000431818.2_Intron|IFT122_ENST00000347300.2_Intron|IFT122_ENST00000296266.3_Intron|IFT122_ENST00000504021.1_Intron NM_052989.1 NP_443715.1 Q9HBG6 IF122_HUMAN intraflagellar transport 122 NA NA camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831) ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372) breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 GAGGCCCAGGGGCCCAGGCCA 0.582 NA G||| 790 0.157748 0.1808 0.1239 5008 , , NA 18636 0.4276 NA 0.003 False NA ,,, NA NA NA 2504 0.0317 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF244930 CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1 3q21 2014-07-03 2014-07-03 2005-11-02 ENSG00000163913 ENSG00000163913 55764 WD repeat domain containing, Intraflagellar transport homologs 13556 protein-coding gene gene with protein product 606045 WD repeat domain 10, intraflagellar transport 122 homolog (Chlamydomonas) WDR10 NA 11242542 Standard NM_018262 NM_052985 NA Approved WDR140, WDR10p, SPG uc003emm.3 Q9HBG6 OTTHUMG00000159516 ENST00000348417.2:c.2987+178G>C chr3.hg19:g.129231433G>C NA B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80 hg19 CCDS3061.1 0.02 3.522395 AGGxGCC COVERED NOVEL IFT122-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000355852.1 0 3.611094 KEEP 0 0 0 12 389 GG 0.993634 0.993625 0 + 7 60 225 0 0 14.562261 102 60 3621 121 ENST00000348417.2 0.06422 0.999992 IFT122 55764 __UNKNOWN__ __UNKNOWN__ 3 129233087 129233087 __UNKNOWN__ Intron SNP G G A rs59128281 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:129233087G>A ENST00000348417.2 + 25 3064 IFT122_ENST00000349441.2_Intron|IFT122_ENST00000440957.2_Intron|IFT122_ENST00000507564.1_Intron|IFT122_ENST00000431818.2_Intron|IFT122_ENST00000347300.2_Intron|IFT122_ENST00000296266.3_Intron|IFT122_ENST00000504021.1_Intron NM_052989.1 NP_443715.1 Q9HBG6 IF122_HUMAN intraflagellar transport 122 NA NA camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831) ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372) breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 TCTCACAAGCGCACAGAGCCT 0.522 NA G||| 540 0.107827 0.0 0.1081 5008 , , NA 22126 0.4286 NA 0.002 False NA ,,, NA NA NA 2504 0.0317 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF244930 CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1 3q21 2014-07-03 2014-07-03 2005-11-02 ENSG00000163913 ENSG00000163913 55764 WD repeat domain containing, Intraflagellar transport homologs 13556 protein-coding gene gene with protein product 606045 WD repeat domain 10, intraflagellar transport 122 homolog (Chlamydomonas) WDR10 NA 11242542 Standard NM_018262 NM_052985 NA Approved WDR140, WDR10p, SPG uc003emm.3 Q9HBG6 OTTHUMG00000159516 ENST00000348417.2:c.2988-145G>A chr3.hg19:g.129233087G>A NA B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80 hg19 CCDS3061.1 0.02 3.900748 AGCxCAC COVERED NOVEL IFT122-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000355852.1 1 3.310399 KEEP 0 0 0 11 365 GG 0.993072 0.993072 0 + 6 60 214 0 0 13.627842 128 60 4496 159 ENST00000348417.2 0.044776 1 RHO 6010 __UNKNOWN__ __UNKNOWN__ 3 129247526 129247526 __UNKNOWN__ 5'UTR SNP G G A rs2269736 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:129247526G>A ENST00000296271.3 + 0 44 NM_000539.3 NP_000530.1 P08100 OPSD_HUMAN rhodopsin NA NA G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction, visible light (GO:0007603)|protein phosphorylation (GO:0006468)|protein-chromophore linkage (GO:0018298)|red, far-red light phototransduction (GO:0009585)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|retinoid metabolic process (GO:0001523)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601) cell-cell junction (GO:0005911)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|photoreceptor inner segment membrane (GO:0060342)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|rough endoplasmic reticulum membrane (GO:0030867) G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)|photoreceptor activity (GO:0009881)|retinal binding (GO:0016918) breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 22 all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183) GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234) Halothane(DB01159) TCAGGCCTTCGCAGCATTCTT 0.602 NA G||| 850 0.169728 0.2262 0.1398 5008 , , NA 16092 0.4196 NA 0.004 False NA ,,, NA NA NA 2504 0.0276 NA NA NA Esophageal Squamous(118;214 1623 30842 43234 46940) NA 0 G 803,3601 281.4+/-275.9 79,645,1478 21 24 23 -0.4 0 3 dbSNP_100 23 43,8557 25.7+/-73.6 1,41,4258 no utr-5 RHO NM_000539.3 80,686,5736 AA,AG,GG 0.5,18.2334,6.5057 129247526 846,12158 2202 4300 6502 SO:0001623 5_prime_UTR_variant AB065668 CCDS3063.1 3q21-q24 2014-01-28 2008-04-16 ENSG00000163914 ENSG00000163914 6010 GPCR / Class A : Opsin receptors 10012 protein-coding gene gene with protein product opsin 2, rod pigment 180380 retinitis pigmentosa 4, autosomal dominant RP4 NA 2016091 Standard NM_000539 NM_000539 NA Approved OPN2, CSNBAD1 uc003emt.3 P08100 OTTHUMG00000159542 ENST00000296271.3:c.-51G>A chr3.hg19:g.129247526G>A NA Q16414|Q2M249 hg19 CCDS3063.1 0.02 6.314939 TTCxCAG COVERED NOVEL RHO-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000356101.1 0 6.62126 KEEP 0 0 0 22 758 GG 0.999879 0.999879 0 + 8 60 284 0 0 18.571726 146 60 4795 200 ENST00000296271.3 0.051948 1 PLXND1 23129 __UNKNOWN__ __UNKNOWN__ 3 129274814 129274814 __UNKNOWN__ Intron SNP G G A rs60340844 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:129274814G>A ENST00000504689.1 - 3 216 PLXND1_ENST00000324093.4_3'UTR|PLXND1_ENST00000393239.1_3'UTR Q9Y4D7 PLXD1_HUMAN plexin D1 NA NA angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416) integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886) protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154) PLXND1/TMCC1(4) NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 72 GTGCTTGGCCGCCTGGATGCA 0.652 NA G||| 1138 0.227236 0.2852 0.1527 5008 , , NA 16508 0.3859 NA 0.1392 False NA ,,, NA NA NA 2504 0.1288 NA NA NA Ovarian(97;366 1484 3738 22084 39045) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY116661 CCDS33854.1 3q21.3 2007-05-16 ENSG00000004399 ENSG00000004399 23129 Plexins 9107 protein-coding gene gene with protein product 604282 NA 12412018 Standard NM_015103 NM_015103 NA Approved KIAA0620 uc003emx.2 Q9Y4D7 OTTHUMG00000159547 ENST00000504689.1:c.130-428C>T chr3.hg19:g.129274814G>A NA A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2 hg19 0.02 10.845979 GCCxCCT COVERED NOVEL PLXND1-018 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000356315.2 0 30.971792 KEEP 0 0 0 103 3511 GG 1 1 0 - 13 60 465 0 0 30.265071 249 60 8682 448 ENST00000504689.1 0.049618 1 PLXND1 23129 __UNKNOWN__ __UNKNOWN__ 3 129286531 129286531 __UNKNOWN__ Intron SNP C C A rs2245281 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:129286531C>A ENST00000324093.4 - 21 4152 PLXND1_ENST00000393239.1_Intron NM_015103.2 NP_055918 Q9Y4D7 PLXD1_HUMAN plexin D1 NA NA angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416) integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886) protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154) PLXND1/TMCC1(4) NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 72 GCAGGGTCCCCGCCCACTACC 0.622 NA A||| 2005 0.400359 0.5333 0.2378 5008 , , NA 18155 0.4931 NA 0.3499 False NA ,,, NA NA NA 2504 0.2924 NA NA NA Ovarian(97;366 1484 3738 22084 39045) NA 0 A 2200,2206 587.9+/-386.8 539,1122,542 63 58 60 -5.6 0 3 dbSNP_100 60 2740,5860 680.6+/-403.7 449,1842,2009 no intron PLXND1 NM_015103.2 988,2964,2551 AA,AC,CC 31.8605,49.9319,37.9825 129286531 4940,8066 2203 4300 6503 SO:0001627 intron_variant AY116661 CCDS33854.1 3q21.3 2007-05-16 ENSG00000004399 ENSG00000004399 23129 Plexins 9107 protein-coding gene gene with protein product 604282 NA 12412018 Standard NM_015103 NM_015103 NA Approved KIAA0620 uc003emx.2 Q9Y4D7 OTTHUMG00000159547 ENST00000324093.4:c.3973+9G>T chr3.hg19:g.129286531C>A NA A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2 hg19 CCDS33854.1 0.02 14.471495 CCCxGCC COVERED NOVEL PLXND1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000356132.4 1 39.118513 KEEP 0 0 0 130 4327 CC 1 1 0 - 23 60 868 0 0 61.341607 314 60 10918 599 ENST00000324093.4 0.068249 1 PLXND1 23129 __UNKNOWN__ __UNKNOWN__ 3 129286635 129286635 __UNKNOWN__ Silent SNP G G A rs2245278 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:129286635G>A ENST00000324093.4 - 21 4057 c.3879C>T c.(3877-3879)ttC>ttT p.F1293F PLXND1_ENST00000393239.1_Silent_p.F1293F NM_015103.2 NP_055918 Q9Y4D7 PLXD1_HUMAN plexin D1 1293 NA angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416) integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886) protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154) PLXND1/TMCC1(4) NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 72 TCTTGGTACAGAAGACGAACA 0.577 NA G||| 1323 0.264177 0.2262 0.1873 5008 , , NA 17903 0.3869 NA 0.3101 False NA ,,, NA NA NA 2504 0.1963 NA NA NA Ovarian(97;366 1484 3738 22084 39045) NA 0 G 1000,3406 367.3+/-318.2 110,780,1313 44 39 41 3879 2.5 1 3 dbSNP_100 41 2426,6174 396.9+/-345.6 339,1748,2213 no coding-synonymous PLXND1 NM_015103.2 449,2528,3526 AA,AG,GG 28.2093,22.6963,26.3417 1293/1926 129286635 3426,9580 2203 4300 6503 SO:0001819 synonymous_variant AY116661 CCDS33854.1 3q21.3 2007-05-16 ENSG00000004399 ENSG00000004399 23129 Plexins 9107 protein-coding gene gene with protein product 604282 NA 12412018 Standard NM_015103 NM_015103 NA Approved KIAA0620 uc003emx.2 Q9Y4D7 OTTHUMG00000159547 ENST00000324093.4:c.3879C>T chr3.hg19:g.129286635G>A NA A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2 hg19 CCDS33854.1 0.02 8.983631 ACAxAAG COVERED NOVEL PLXND1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000356132.4 0 25.582428 KEEP 0 0 0 85 2974 GG 1 1 0 - 16 60 593 0 0 41.205317 231 60 8951 433 ENST00000324093.4 0.064777 1 PLXND1 23129 __UNKNOWN__ __UNKNOWN__ 3 129290187 129290187 __UNKNOWN__ Intron SNP T T C rs2285367 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:129290187T>C ENST00000324093.4 - 18 3515 PLXND1_ENST00000393239.1_Intron NM_015103.2 NP_055918 Q9Y4D7 PLXD1_HUMAN plexin D1 NA NA angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416) integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886) protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154) PLXND1/TMCC1(4) NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 72 GGATGCAGGATGGACAGATGG 0.642 NA T||| 1373 0.274161 0.2231 0.2305 5008 , , NA 18090 0.4087 NA 0.3091 False NA ,,, NA NA NA 2504 0.1994 NA NA NA Ovarian(97;366 1484 3738 22084 39045) NA 0 T 955,3389 110,735,1327 9 10 9 -8.2 0 3 dbSNP_100 9 2339,6199 335,1669,2265 no intron PLXND1 NM_015103.2 445,2404,3592 CC,CT,TT 27.3952,21.9843,25.5706 129290187 3294,9588 2172 4269 6441 SO:0001627 intron_variant AY116661 CCDS33854.1 3q21.3 2007-05-16 ENSG00000004399 ENSG00000004399 23129 Plexins 9107 protein-coding gene gene with protein product 604282 NA 12412018 Standard NM_015103 NM_015103 NA Approved KIAA0620 uc003emx.2 Q9Y4D7 OTTHUMG00000159547 ENST00000324093.4:c.3337-41A>G chr3.hg19:g.129290187T>C NA A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2 hg19 CCDS33854.1 0.02 1.830356 GGAxGGA COVERED NOVEL PLXND1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000356132.4 3 3.609937 KEEP 0 0 0 12 370 TT 0.993634 0.992109 0 - 8 60 272 0 0 19.962674 67 60 2356 95 ENST00000324093.4 0.106667 0.998465 PLXND1 23129 __UNKNOWN__ __UNKNOWN__ 3 129291751 129291751 __UNKNOWN__ Silent SNP T T C rs2244708 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:129291751T>C ENST00000324093.4 - 14 3049 c.2871A>G c.(2869-2871)ccA>ccG p.P957P PLXND1_ENST00000393239.1_Silent_p.P957P NM_015103.2 NP_055918 Q9Y4D7 PLXD1_HUMAN plexin D1 957 IPT/TIG 1. NA angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416) integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886) protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154) PLXND1/TMCC1(4) NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 72 CACCTGAGAGTGGTCCTGGGG 0.677 NA C||| 2155 0.430312 0.6036 0.2911 5008 , , NA 15878 0.5119 NA 0.3479 False NA ,,, NA NA NA 2504 0.2955 NA NA NA Ovarian(97;366 1484 3738 22084 39045) NA 0 C 2532,1872 537.5+/-374.7 728,1076,398 62 52 55 2871 -6.7 0 3 dbSNP_100 55 2726,5874 680.0+/-403.6 445,1836,2019 yes coding-synonymous PLXND1 NM_015103.2 1173,2912,2417 CC,CT,TT 31.6977,42.5068,40.4337 957/1926 129291751 5258,7746 2202 4300 6502 SO:0001819 synonymous_variant AY116661 CCDS33854.1 3q21.3 2007-05-16 ENSG00000004399 ENSG00000004399 23129 Plexins 9107 protein-coding gene gene with protein product 604282 NA 12412018 Standard NM_015103 NM_015103 NA Approved KIAA0620 uc003emx.2 Q9Y4D7 OTTHUMG00000159547 ENST00000324093.4:c.2871A>G chr3.hg19:g.129291751T>C NA A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2 hg19 CCDS33854.1 0.02 11.094975 GAGxGGT COVERED NOVEL PLXND1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000356132.4 2 27.077206 KEEP 0 0 0 90 2757 TT 1 1 0 - 16 60 568 0 0 37.562637 274 60 9854 486 ENST00000324093.4 0.055172 1 PLXND1 23129 __UNKNOWN__ __UNKNOWN__ 3 129294456 129294456 __UNKNOWN__ Intron SNP C C T rs2255508 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:129294456C>T ENST00000324093.4 - 11 2615 PLXND1_ENST00000393239.1_Intron NM_015103.2 NP_055918 Q9Y4D7 PLXD1_HUMAN plexin D1 NA NA angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416) integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886) protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154) PLXND1/TMCC1(4) NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 72 GCCTGGGGCTCTGCTGGGGAT 0.602 NA C||| 1146 0.228834 0.1558 0.1988 5008 , , NA 17759 0.4028 NA 0.2217 False NA ,,, NA NA NA 2504 0.1769 NA NA NA Ovarian(97;366 1484 3738 22084 39045) NA 0 C 636,3608 42,552,1528 21 20 20 -1.4 0 3 dbSNP_100 20 1471,6839 116,1239,2800 no intron PLXND1 NM_015103.2 158,1791,4328 TT,TC,CC 17.7016,14.9859,16.7835 129294456 2107,10447 2122 4155 6277 SO:0001627 intron_variant AY116661 CCDS33854.1 3q21.3 2007-05-16 ENSG00000004399 ENSG00000004399 23129 Plexins 9107 protein-coding gene gene with protein product 604282 NA 12412018 Standard NM_015103 NM_015103 NA Approved KIAA0620 uc003emx.2 Q9Y4D7 OTTHUMG00000159547 ENST00000324093.4:c.2437-51G>A chr3.hg19:g.129294456C>T NA A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2 hg19 CCDS33854.1 0.02 4.326334 GCTxTGC COVERED NOVEL PLXND1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000356132.4 1 9.630954 KEEP 0 0 0 32 1127 CC 0.999997 0.999997 0 - 6 60 224 0 0 14.686886 125 60 4683 194 ENST00000324093.4 0.045802 1 PLXND1 23129 __UNKNOWN__ __UNKNOWN__ 3 129297223 129297223 __UNKNOWN__ Silent SNP C C G rs1110168 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:129297223C>G ENST00000324093.4 - 9 2473 c.2295G>C c.(2293-2295)acG>acC p.T765T PLXND1_ENST00000393239.1_Silent_p.T765T NM_015103.2 NP_055918 Q9Y4D7 PLXD1_HUMAN plexin D1 765 NA angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416) integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886) protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154) PLXND1/TMCC1(4) NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 72 GGGAGCCACCCGTAGGCACGG 0.647 NA C||| 1156 0.230831 0.1611 0.1988 5008 , , NA 16577 0.4067 NA 0.2207 False NA ,,, NA NA NA 2504 0.1769 NA NA NA Ovarian(97;366 1484 3738 22084 39045) NA 0 C 717,3689 61,595,1547 32 37 35 2295 -9.2 0.7 3 dbSNP_86 35 1651,6949 143,1365,2792 no coding-synonymous PLXND1 NM_015103.2 204,1960,4339 GG,GC,CC 19.1977,16.2733,18.207 765/1926 129297223 2368,10638 2203 4300 6503 SO:0001819 synonymous_variant AY116661 CCDS33854.1 3q21.3 2007-05-16 ENSG00000004399 ENSG00000004399 23129 Plexins 9107 protein-coding gene gene with protein product 604282 NA 12412018 Standard NM_015103 NM_015103 NA Approved KIAA0620 uc003emx.2 Q9Y4D7 OTTHUMG00000159547 ENST00000324093.4:c.2295G>C chr3.hg19:g.129297223C>G NA A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2 hg19 CCDS33854.1 0.02 2.294382 ACCxGTA COVERED NOVEL PLXND1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000356132.4 0 5.115213 KEEP 0 0 0 17 569 CC 0.999366 0.998477 0 - 7 60 239 0 0 16.977869 72 60 2516 123 ENST00000324093.4 0.088608 0.99911 TRH 7200 __UNKNOWN__ __UNKNOWN__ 3 129694681 129694681 __UNKNOWN__ Missense_Mutation SNP C C G rs5658 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:129694681C>G ENST00000507066.1 + 2 166 c.22C>G c.(22-24)Ctc>Gtc p.L8V TRH_ENST00000302649.3_Missense_Mutation_p.L8V P20396 TRH_HUMAN thyrotropin-releasing hormone 8 NA L -> V (in dbSNP:rs5658). adult walking behavior (GO:0007628)|cell-cell signaling (GO:0007267)|eating behavior (GO:0042755)|histamine metabolic process (GO:0001692)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of feeding behavior (GO:2000252)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of insulin secretion (GO:0032024)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165) extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141) thyrotropin-releasing hormone activity (GO:0008437) NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1) 14 TTGGTTGCTGCTCGCTCTGGC 0.701 NA C||| 1122 0.224042 0.239 0.2911 5008 , , NA 13936 0.3631 NA 0.0785 False NA ,,, NA NA NA 2504 0.1626 NA NA NA Esophageal Squamous(60;321 1330 17401 41911) NA 0 C VAL/LEU 869,3421 88,693,1364 14 14 14 22 2.2 0.6 3 dbSNP_52 14 669,7731 34,601,3565 yes missense TRH NM_007117.3 32 122,1294,4929 GG,GC,CC 7.9643,20.2564,12.1198 probably-damaging 8/243 129694681 1538,11152 2145 4200 6345 SO:0001583 missense CCDS3066.1 3q13.3-q21 2013-02-28 ENSG00000170893 7200 Endogenous ligands 12298 protein-coding gene gene with protein product prothyroliberin 613879 NA 2126343, 1900134 Standard NM_007117 NM_007117 NA Approved uc003enc.4 P20396 ENST00000507066.1:c.22C>G chr3.hg19:g.129694681C>G ENSP00000426522:p.Leu8Val NA B2R8R1|Q2TB83 hg19 0.02 1.919031 CTGxTCG COVERED 477 0.2184065934065934 107 0.21747967479674796 98 0.27071823204419887 207 0.3618881118881119 65 0.08575197889182058 C 11.99 1.802842 0.31869 0.202564 0.079643 ENSG00000170893 ENST00000302649;ENST00000507066 T;T 0.52295 0.67;0.67 4.07 2.22 0.28083 . 0.633406 0.15283 N 0.270578 T 0.00012 0.0000 M 0.63428 1.95 0.36832 P 0.11303300000000005 P 0.41624 0.757 B 0.37451 0.25 T 0.34625 -0.9821 9 0.35671 T 0.21 -5.7178 7.1873 0.25806 0.1939:0.6187:0.1874:0.0 rs5658;rs1619517;rs56706099;rs5658 8 P20396 TRH_HUMAN V 8 ENSP00000303452:L8V;ENSP00000426522:L8V ENSP00000303452:L8V L + 1 0 TRH 131177371 0.996000 0.38824 0.559000 0.28332 0.156000 0.22039 1.533000 0.36040 0.452000 0.26830 -0.314000 0.08810 CTC NOVEL TRH-002 NOVEL not_organism_supported|basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000356593.3 1 12.340466 KEEP 0 0 0 41 1475 CC 1 0.999956 0 + 4 60 145 0 0 9.135987 95 60 3627 174 ENST00000507066.1 0.040404 0.999956 COL6A5 256076 __UNKNOWN__ __UNKNOWN__ 3 130098349 130098349 __UNKNOWN__ Silent SNP G G A rs16845861 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:130098349G>A ENST00000432398.2 + 4 1250 c.756G>A c.(754-756)agG>agA p.R252R COL6A5_ENST00000265379.6_Silent_p.R252R NM_153264.5 NP_694996.5 A8TX70 CO6A5_HUMAN collagen, type VI, alpha 5 252 Nonhelical region.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}. NA cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198) collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578) endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1) 44 GAAATTTAAGGCATCTTCAGA 0.468 NA G||| 1956 0.390575 0.4697 0.4553 5008 , , NA 20494 0.5099 NA 0.2008 False NA ,,, NA NA NA 2504 0.3098 NA NA NA NA 0 G 583,801 114,355,223 95 85 88 756 4.2 0 3 dbSNP_123 88 696,2486 84,528,979 no coding-synonymous COL6A5 NM_153264.5 198,883,1202 AA,AG,GG 21.873,42.1243,28.0114 252/2527 130098349 1279,3287 692 1591 2283 SO:0001819 synonymous_variant AK093199 3q21.3 2013-01-16 2010-05-24 2010-05-24 ENSG00000172752 ENSG00000172752 256076 Collagens 26674 protein-coding gene gene with protein product von Willebrand factor A domain containing 4 611916 collagen, type XXIX, alpha 1 COL29A1 NA 17850181 Standard NM_153264 NM_153264 NA Approved FLJ35880, VWA4 uc010htk.2 A8TX70 OTTHUMG00000159712 ENST00000432398.2:c.756G>A chr3.hg19:g.130098349G>A NA A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36 hg19 0.02 14.12817 AAGxCAT COVERED NOVEL COL6A5-202 KNOWN basic|appris_principal protein_coding NA protein_coding 2 10.651215 KEEP 0 1 36 48 1711 GG 1 1 0 + 10 60 357 0 0 20.4626 365 60 13361 505 ENST00000432398.2 0.026667 1 COL6A5 256076 __UNKNOWN__ __UNKNOWN__ 3 130103723 130103723 __UNKNOWN__ Silent SNP G G A rs58143906 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:130103723G>A ENST00000432398.2 + 5 1871 c.1377G>A c.(1375-1377)gaG>gaA p.E459E COL6A5_ENST00000265379.6_Silent_p.E459E NM_153264.5 NP_694996.5 A8TX70 CO6A5_HUMAN collagen, type VI, alpha 5 459 Nonhelical region.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}. NA cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198) collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578) endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1) 44 AACAGTTTGAGCAAATCAAGA 0.433 NA G||| 544 0.108626 0.003 0.1888 5008 , , NA 19852 0.3284 NA 0.0129 False NA ,,, NA NA NA 2504 0.0665 NA NA NA NA 0 G 8,1376 0,8,684 92 83 86 1377 -1.5 0 3 dbSNP_129 86 32,3150 0,32,1559 no coding-synonymous COL6A5 NM_153264.5 0,40,2243 AA,AG,GG 1.0057,0.578,0.876 459/2527 130103723 40,4526 692 1591 2283 SO:0001819 synonymous_variant AK093199 3q21.3 2013-01-16 2010-05-24 2010-05-24 ENSG00000172752 ENSG00000172752 256076 Collagens 26674 protein-coding gene gene with protein product von Willebrand factor A domain containing 4 611916 collagen, type XXIX, alpha 1 COL29A1 NA 17850181 Standard NM_153264 NM_153264 NA Approved FLJ35880, VWA4 uc010htk.2 A8TX70 OTTHUMG00000159712 ENST00000432398.2:c.1377G>A chr3.hg19:g.130103723G>A NA A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36 hg19 0.02 13.576999 TGAxCAA COVERED NOVEL COL6A5-202 KNOWN basic|appris_principal protein_coding NA protein_coding 2 13.24333 KEEP 0 0 0 44 1591 GG 1 1 0 + 11 60 385 0 0 22.123882 370 60 14167 514 ENST00000432398.2 0.028871 1 COL6A5 256076 __UNKNOWN__ __UNKNOWN__ 3 130145175 130145175 __UNKNOWN__ Intron SNP G G A rs9859372 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:130145175G>A ENST00000432398.2 + 31 5693 COL6A5_ENST00000265379.6_Intron NM_153264.5 NP_694996.5 A8TX70 CO6A5_HUMAN collagen, type VI, alpha 5 NA NA cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198) collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578) endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1) 44 CACTGTACTTGCATTTCTTTT 0.378 NA A||| 1118 0.223243 0.1437 0.1657 5008 , , NA 22081 0.2917 NA 0.1918 False NA ,,, NA NA NA 2504 0.3333 NA NA NA NA 0 A 203,1181 13,177,502 284 239 253 2.3 0 3 dbSNP_119 253 640,2542 71,498,1022 no intron COL6A5 NM_153264.5 84,675,1524 AA,AG,GG 20.1131,14.6676,18.4625 130145175 843,3723 692 1591 2283 SO:0001627 intron_variant AK093199 3q21.3 2013-01-16 2010-05-24 2010-05-24 ENSG00000172752 ENSG00000172752 256076 Collagens 26674 protein-coding gene gene with protein product von Willebrand factor A domain containing 4 611916 collagen, type XXIX, alpha 1 COL29A1 NA 17850181 Standard NM_153264 NM_153264 NA Approved FLJ35880, VWA4 uc010htk.2 A8TX70 OTTHUMG00000159712 ENST00000432398.2:c.5200-36G>A chr3.hg19:g.130145175G>A NA A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36 hg19 0.02 10.837906 CTTxCAT COVERED NOVEL COL6A5-202 KNOWN basic|appris_principal protein_coding NA protein_coding 3 9.065223 KEEP 0 1 34 42 1503 GG 1 1 0 + 10 60 370 0 0 23.526424 241 60 9109 341 ENST00000432398.2 0.039841 1 COL6A5 256076 __UNKNOWN__ __UNKNOWN__ 3 130159688 130159688 __UNKNOWN__ Intron SNP G G A rs78410669 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:130159688G>A ENST00000432398.2 + 35 6981 COL6A5_ENST00000265379.6_Intron NM_153264.5 NP_694996.5 A8TX70 CO6A5_HUMAN collagen, type VI, alpha 5 NA NA cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198) collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578) endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1) 44 TTATTTCATTGTTTGTCTTTT 0.289 NA G||| 240 0.0479233 0.0567 0.0101 5008 , , NA 19831 0.1091 NA 0.002 False NA ,,, NA NA NA 2504 0.047 NA NA NA NA 0 G 169,3433 3,163,1635 30 28 29 1.8 0 3 dbSNP_132 29 60,8084 0,60,4012 no intron COL6A5 NM_153264.5 3,223,5647 AA,AG,GG 0.7367,4.6918,1.9496 130159688 229,11517 1801 4072 5873 SO:0001627 intron_variant AK093199 3q21.3 2013-01-16 2010-05-24 2010-05-24 ENSG00000172752 ENSG00000172752 256076 Collagens 26674 protein-coding gene gene with protein product von Willebrand factor A domain containing 4 611916 collagen, type XXIX, alpha 1 COL29A1 NA 17850181 Standard NM_153264 NM_153264 NA Approved FLJ35880, VWA4 uc010htk.2 A8TX70 OTTHUMG00000159712 ENST00000432398.2:c.6487+19G>A chr3.hg19:g.130159688G>A NA A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36 hg19 0.02 8.717912 ATTxTTT COVERED NOVEL COL6A5-202 KNOWN basic|appris_principal protein_coding NA protein_coding 4 2.407105 KEEP 0 0 0 8 255 GG 0.99257 0.99257 0 + 11 60 407 0 0 27.238454 198 60 7299 220 ENST00000432398.2 0.052632 1 COL6A6 131873 __UNKNOWN__ __UNKNOWN__ 3 130381152 130381152 __UNKNOWN__ Splice_Site SNP C C T rs193270756 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:130381152C>T ENST00000358511.6 + 34 6533 c.6502C>T c.(6502-6504)Cgt>Tgt p.R2168C COL6A6_ENST00000453409.2_Splice_Site_p.R2168C NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 2168 Nonhelical region. NA cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198) collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578) NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 CTCAATCAGGCGTAAGTCATA 0.398 NA C||| 9 0.00179712 0.0 0.0 5008 , , NA 20473 0.0079 NA 0.001 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 C CYS/ARG 3,3741 0,3,1869 120 123 122 6502 6 1 3 122 0,8236 0,0,4118 yes missense-near-splice COL6A6 NM_001102608.1 180 0,3,5987 TT,TC,CC 0.0,0.0801,0.025 probably-damaging 2168/2264 130381152 3,11977 1872 4118 5990 SO:0001630 splice_region_variant AL713792 CCDS46911.1 3q22.1 2013-01-16 ENSG00000206384 ENSG00000206384 131873 Collagens 27023 protein-coding gene gene with protein product NA Standard NM_001102608 NM_001102608 NA Approved uc010htl.3 A6NMZ7 OTTHUMG00000159653 ENST00000358511.6:c.6502+1C>T chr3.hg19:g.130381152C>T NA A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0 hg19 CCDS46911.1 0.02 9.290715 AGGxGTA COVERED 5 0.0022893772893772895 0 0.0 0 0.0 4 0.006993006993006993 1 0.0013192612137203166 C 15.25 2.778875 0.49891 8.01E-4 0.0 ENSG00000206384 ENST00000358511;ENST00000453409 T;T 0.15017 2.46;2.46 5.96 5.96 0.96718 . . . . . T 0.14527 0.0351 L 0.43152 1.355 0.40057 D 0.975843 B;P 0.38078 0.279;0.617 B;B 0.41299 0.069;0.353 T 0.00745 -1.1584 9 0.87932 D 0 . 13.7849 0.63104 0.2677:0.7323:0.0:0.0 . 2168;2168 A6NMZ7;F8W6Y7 CO6A6_HUMAN;. C 2168 ENSP00000351310:R2168C;ENSP00000399236:R2168C ENSP00000351310:R2168C R + 1 0 COL6A6 131863842 0.983000 0.35010 1.000000 0.80357 0.383000 0.30230 0.879000 0.28146 2.832000 0.97577 0.655000 0.94253 CGT NOVEL COL6A6-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000356705.5 2 14.444451 KEEP 0 0 0 48 1594 CC 1 1 0 Missense_Mutation + 11 60 398 0 0 26.295235 200 60 6847 306 ENST00000358511.6 0.052133 1 COL6A6 131873 __UNKNOWN__ __UNKNOWN__ 3 130383973 130383973 __UNKNOWN__ Intron SNP G G A rs59386806 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:130383973G>A ENST00000358511.6 + 35 6627 COL6A6_ENST00000453409.2_Intron NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 NA NA cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198) collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578) NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 TGATAAATGAGAATGccccct 0.388 NA A||| 1529 0.305312 0.3434 0.3559 5008 , , NA 17193 0.244 NA 0.2147 False NA ,,, NA NA NA 2504 0.3742 NA NA NA NA 0 A 1286,2418 228,830,794 43 40 41 -2.5 0 3 dbSNP_129 41 1608,6574 168,1272,2651 no intron COL6A6 NM_001102608.1 396,2102,3445 AA,AG,GG 19.6529,34.7192,24.348 130383973 2894,8992 1852 4091 5943 SO:0001627 intron_variant AL713792 CCDS46911.1 3q22.1 2013-01-16 ENSG00000206384 ENSG00000206384 131873 Collagens 27023 protein-coding gene gene with protein product NA Standard NM_001102608 NM_001102608 NA Approved uc010htl.3 A6NMZ7 OTTHUMG00000159653 ENST00000358511.6:c.6596+33G>A chr3.hg19:g.130383973G>A NA A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0 hg19 CCDS46911.1 0.02 23.562626 TGAxAAT COVERED NOVEL COL6A6-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000356705.5 3 32.504949 KEEP 0 0 0 108 3840 GG 1 1 0 + 17 60 605 0 0 34.719471 610 60 23344 925 ENST00000358511.6 0.027113 1 COL6A6 131873 __UNKNOWN__ __UNKNOWN__ 3 130394686 130394686 __UNKNOWN__ 3'UTR SNP T T C rs17748727 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:130394686T>C ENST00000358511.6 + 0 7268 COL6A6_ENST00000453409.2_3'UTR NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 NA NA cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198) collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578) NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 CCAAAATTTATCCTAGAAATG 0.328 NA C||| 1323 0.264177 0.1936 0.3487 5008 , , NA 18295 0.244 NA 0.2087 False NA ,,, NA NA NA 2504 0.3773 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL713792 CCDS46911.1 3q22.1 2013-01-16 ENSG00000206384 ENSG00000206384 131873 Collagens 27023 protein-coding gene gene with protein product NA Standard NM_001102608 NM_001102608 NA Approved uc010htl.3 A6NMZ7 OTTHUMG00000159653 ENST00000358511.6:c.*445T>C chr3.hg19:g.130394686T>C NA A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0 hg19 CCDS46911.1 0.02 6.806124 TTAxCCT COVERED NOVEL COL6A6-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000356705.5 1 12.939463 KEEP 0 0 0 43 1366 TT 1 1 0 + 12 60 436 0 0 29.926829 177 60 6331 253 ENST00000358511.6 0.063492 1 COL6A6 131873 __UNKNOWN__ __UNKNOWN__ 3 130394728 130394728 __UNKNOWN__ 3'UTR SNP C C T rs17748751 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:130394728C>T ENST00000358511.6 + 0 7310 COL6A6_ENST00000453409.2_3'UTR NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 NA NA cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198) collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578) NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 TTTTTTAAAACGTGACCTTCT 0.338 NA T||| 1321 0.263778 0.1936 0.3473 5008 , , NA 18647 0.244 NA 0.2087 False NA ,,, NA NA NA 2504 0.3763 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL713792 CCDS46911.1 3q22.1 2013-01-16 ENSG00000206384 ENSG00000206384 131873 Collagens 27023 protein-coding gene gene with protein product NA Standard NM_001102608 NM_001102608 NA Approved uc010htl.3 A6NMZ7 OTTHUMG00000159653 ENST00000358511.6:c.*487C>T chr3.hg19:g.130394728C>T NA A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0 hg19 CCDS46911.1 0.02 6.612602 AAAxGTG COVERED NOVEL COL6A6-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000356705.5 1 12.338948 KEEP 0 0 0 41 1404 CC 1 1 0 + 11 60 398 0 0 27.859653 143 60 4917 232 ENST00000358511.6 0.071429 1 COL6A6 131873 __UNKNOWN__ __UNKNOWN__ 3 130394847 130394847 __UNKNOWN__ 3'UTR SNP C C T rs11710068 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:130394847C>T ENST00000358511.6 + 0 7429 COL6A6_ENST00000453409.2_3'UTR NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 NA NA cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198) collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578) NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 CTCATTAATTCCCGCAGAACA 0.403 NA C||| 1323 0.264177 0.1944 0.3487 5008 , , NA 17858 0.244 NA 0.2087 False NA ,,, NA NA NA 2504 0.3763 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL713792 CCDS46911.1 3q22.1 2013-01-16 ENSG00000206384 ENSG00000206384 131873 Collagens 27023 protein-coding gene gene with protein product NA Standard NM_001102608 NM_001102608 NA Approved uc010htl.3 A6NMZ7 OTTHUMG00000159653 ENST00000358511.6:c.*606C>T chr3.hg19:g.130394847C>T NA A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0 hg19 CCDS46911.1 0.02 1.760103 ATTxCCG COVERED NOVEL COL6A6-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000356705.5 1 6.019131 KEEP 0 0 0 20 690 CC 0.999863 0.99935 0 + 5 60 163 0 0 10.489882 78 60 2833 116 ENST00000358511.6 0.060241 0.999487 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 130546697 130546697 __UNKNOWN__ IGR SNP A A G rs12493504 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:130546697A>G NA NA RN7SKP212 (15758 upstream) : ATP2C1 (22741 downstream) NA NA NA GTGGTTCTTTAAGAAAAATCC 0.473 NA A||| 1220 0.24361 0.112 0.2608 5008 , , NA 20085 0.3046 NA 0.3022 False NA ,,, NA NA NA 2504 0.2863 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.130546697A>G NA hg19 0.02 4.465475 TTTxAGA COVERED NOVEL 0 0 3.008488 KEEP 0 0 0 10 303 AA 0.992708 0.992708 0 5 60 193 0 0 12.354108 133 60 4642 151 0.036232 1 NEK11 79858 __UNKNOWN__ __UNKNOWN__ 3 130748733 130748733 __UNKNOWN__ Intron SNP A A G rs9864242 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:130748733A>G ENST00000510769.1 + 2 423 NEK11_ENST00000383366.4_Intron|NEK11_ENST00000508196.1_Intron|NEK11_ENST00000511262.1_Intron|NEK11_ENST00000356918.4_Intron|NEK11_ENST00000507910.1_Intron|NEK11_ENST00000429253.2_Intron|NEK11_ENST00000510688.1_Intron|NEK11_ENST00000412440.2_Intron NIMA-related kinase 11 NA NA breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2) 33 GTAAGTAAAAATGCTTCCTAT 0.433 NA A||| 1223 0.244209 0.0212 0.3732 5008 , , NA 22153 0.2599 NA 0.4215 False NA ,,, NA NA NA 2504 0.2556 NA NA NA NA 0 A ,, 345,4061 179.0+/-207.6 12,321,1870 83 82 82 ,, 4.1 0.7 3 dbSNP_119 82 3577,5023 516.3+/-378.8 740,2097,1463 no intron,intron,intron NEK11 NM_001146003.1,NM_024800.4,NM_145910.3 ,, 752,2418,3333 GG,GA,AA 41.593,7.8302,30.1553 ,, ,, 130748733 3922,9084 2203 4300 6503 SO:0001627 intron_variant AK027148 CCDS3069.1, CCDS46915.1, CCDS54639.1 3q22.1 2012-11-15 2012-11-15 ENSG00000114670 ENSG00000114670 79858 18593 protein-coding gene gene with protein product 609779 NIMA (never in mitosis gene a)- related kinase 11 NA Standard NM_024800 NM_024800 NA Approved FLJ23495 uc003eny.3 Q8NG66 OTTHUMG00000159654 ENST00000510769.1:c.170+11A>G chr3.hg19:g.130748733A>G NA hg19 0.02 8.451639 AAAxTGC COVERED NOVEL NEK11-005 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000356757.1 3 9.926578 KEEP 0 0 0 33 975 AA 0.999998 0.999998 0 + 9 60 332 0 0 21.037089 219 60 8016 287 ENST00000510769.1 0.039474 1 NEK11 79858 __UNKNOWN__ __UNKNOWN__ 3 130947435 130947435 __UNKNOWN__ Missense_Mutation SNP A A T rs3738000 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:130947435A>T ENST00000510769.1 + 11 1401 c.1148A>T c.(1147-1149)gAa>gTa p.E383V NEK11_ENST00000383366.4_Missense_Mutation_p.E488V|NEK11_ENST00000429253.2_Missense_Mutation_p.E488V|NEK11_ENST00000510688.1_Missense_Mutation_p.E488V|NEK11_ENST00000412440.2_Missense_Mutation_p.E304V|NEK11_ENST00000508196.1_Missense_Mutation_p.E488V NIMA-related kinase 11 NA NA breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2) 33 TCCTATTGTGAAGAGAGTGAT 0.423 NA A||| 2474 0.49401 0.1838 0.5879 5008 , , NA 19367 0.4058 NA 0.7018 False NA ,,, NA NA NA 2504 0.7239 NA NA NA NA 0 A VAL/GLU,VAL/GLU 1145,3261 406.9+/-334.0 145,855,1203 133 125 127 1463,1463 5.7 1 3 dbSNP_107 127 6092,2508 694.3+/-404.7 2134,1824,342 yes missense,missense NEK11 NM_001146003.1,NM_024800.4 121,121 2279,2679,1545 TT,TA,AA 29.1628,25.9873,44.3565 probably-damaging,probably-damaging 488/600,488/646 130947435 7237,5769 2203 4300 6503 SO:0001583 missense AK027148 CCDS3069.1, CCDS46915.1, CCDS54639.1 3q22.1 2012-11-15 2012-11-15 ENSG00000114670 ENSG00000114670 79858 18593 protein-coding gene gene with protein product 609779 NIMA (never in mitosis gene a)- related kinase 11 NA Standard NM_024800 NM_024800 NA Approved FLJ23495 uc003eny.3 Q8NG66 OTTHUMG00000159654 ENST00000510769.1:c.1148A>T chr3.hg19:g.130947435A>T ENSP00000421549:p.Glu383Val NA hg19 0.02 10.502746 GTGxAGA COVERED 1054 0.4826007326007326 90 0.18292682926829268 215 0.5939226519337016 219 0.38286713286713286 530 0.6992084432717678 A 17.75 3.467512 0.63625 0.259873 0.708372 ENSG00000114670 ENST00000510769;ENST00000429253;ENST00000510688;ENST00000383366;ENST00000412440;ENST00000508196 T;T;T;T;T;T 0.76186 -0.91;-0.73;-1.0;-0.73;-0.96;-0.73 5.67 5.67 0.87782 . 0.324438 0.22031 N 0.065583 T 0.00012 0.0000 L 0.55481 1.735 0.24132 P 0.9957671 D;D;D;D 0.89917 1.0;1.0;1.0;1.0 D;D;D;D 0.91635 0.998;0.997;0.999;0.997 T 0.51679 -0.8675 9 0.52906 T 0.07 . 13.4265 0.61028 1.0:0.0:0.0:0.0 rs3738000;rs57477185;rs3738000 383;304;488;488 E9PHI8;B4DDN2;Q8NG66-4;Q8NG66 .;.;.;NEK11_HUMAN V 383;488;488;488;304;488 ENSP00000421549:E383V;ENSP00000397180:E488V;ENSP00000423458:E488V;ENSP00000372857:E488V;ENSP00000411888:E304V;ENSP00000421851:E488V ENSP00000372857:E488V E + 2 0 NEK11 132430125 1.000000 0.71417 1.000000 0.80357 0.382000 0.30200 5.115000 0.64655 2.144000 0.66660 0.533000 0.62120 GAA NOVEL NEK11-005 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000356757.1 0 7.255341 KEEP 0 1 31 35 1089 AA 0.999999 0.999999 0 + 21 60 731 0 0 50.816238 257 60 9202 399 ENST00000510769.1 0.07554 1 CPNE4 131034 __UNKNOWN__ __UNKNOWN__ 3 131756349 131756349 __UNKNOWN__ Intron SNP A A G rs1569282 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:131756349A>G ENST00000512055.1 - 4 1250 CPNE4_ENST00000512332.1_Intron|CPNE4_ENST00000502818.1_Intron|CPNE4_ENST00000511604.1_Intron Q96A23 CPNE4_HUMAN copine IV NA NA extracellular vesicular exosome (GO:0070062) central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 39 CCCGCCAGCCACAGTCCCCTC 0.443 NA A||| 1763 0.352037 0.3707 0.2205 5008 , , NA 18092 0.2579 NA 0.3797 False NA ,,, NA NA NA 2504 0.4888 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant H29499 CCDS3072.1, CCDS75010.1 3q22.1 2014-09-04 ENSG00000196353 ENSG00000196353 131034 2317 protein-coding gene gene with protein product copine 8 604208 NA 9430674, 12670487 Standard NM_130808 XM_005247107 NA Approved COPN4, CPN4 uc003eok.3 Q96A23 OTTHUMG00000159631 ENST00000512055.1:c.876+51T>C chr3.hg19:g.131756349A>G NA D3DNC5|Q8TEX1 hg19 CCDS3072.1 0.02 14.63833 GCCxCAG COVERED NOVEL CPNE4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000356583.4 2 15.645972 KEEP 0 0 0 52 1605 AA 1 1 0 - 12 60 421 0 0 25.128655 339 60 12357 509 ENST00000512055.1 0.034188 1 CPNE4 131034 __UNKNOWN__ __UNKNOWN__ 3 131756375 131756375 __UNKNOWN__ Intron SNP A A G rs1569281 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:131756375A>G ENST00000512055.1 - 4 1250 CPNE4_ENST00000512332.1_Intron|CPNE4_ENST00000502818.1_Intron|CPNE4_ENST00000511604.1_Intron Q96A23 CPNE4_HUMAN copine IV NA NA extracellular vesicular exosome (GO:0070062) central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 39 TTGTAACATCAAAATCCCCTT 0.448 NA A||| 3051 0.609225 0.73 0.4006 5008 , , NA 18409 0.3958 NA 0.6769 False NA ,,, NA NA NA 2504 0.7444 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant H29499 CCDS3072.1, CCDS75010.1 3q22.1 2014-09-04 ENSG00000196353 ENSG00000196353 131034 2317 protein-coding gene gene with protein product copine 8 604208 NA 9430674, 12670487 Standard NM_130808 XM_005247107 NA Approved COPN4, CPN4 uc003eok.3 Q96A23 OTTHUMG00000159631 ENST00000512055.1:c.876+25T>C chr3.hg19:g.131756375A>G NA D3DNC5|Q8TEX1 hg19 CCDS3072.1 0.02 15.654709 ATCxAAA COVERED NOVEL CPNE4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000356583.4 0 9.395882 KEEP 0 2 68 55 1687 AA 1 1 0 - 13 60 465 0 0 28.086268 370 60 13521 529 ENST00000512055.1 0.033943 1 ACPP 55 __UNKNOWN__ __UNKNOWN__ 3 132063914 132063914 __UNKNOWN__ Intron SNP A A T rs972774 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:132063914A>T ENST00000475741.1 + 6 733 ACPP_ENST00000336375.5_Intron|ACPP_ENST00000351273.7_Intron P15309 PPAP_HUMAN acid phosphatase, prostate NA NA adenosine metabolic process (GO:0046085)|dephosphorylation (GO:0016311)|nucleotide metabolic process (GO:0009117)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|purine nucleobase metabolic process (GO:0006144)|regulation of sensory perception of pain (GO:0051930)|thiamine metabolic process (GO:0006772) apical part of cell (GO:0045177)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi cisterna (GO:0031985)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|vesicle membrane (GO:0012506) 5'-nucleotidase activity (GO:0008253)|acid phosphatase activity (GO:0003993)|choline binding (GO:0033265)|identical protein binding (GO:0042802)|lysophosphatidic acid phosphatase activity (GO:0052642)|phosphatase activity (GO:0016791)|thiamine phosphate phosphatase activity (GO:0042131) NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 27 GTAAGTATTAAAAaatgagag 0.418 NA A||| 2187 0.436701 0.3759 0.5043 5008 , , NA 17614 0.2004 NA 0.5885 False NA ,,, NA NA NA 2504 0.5583 NA NA NA NA 0 A , 1850,2556 528.6+/-372.4 405,1040,758 33 33 33 , -6.2 0 3 dbSNP_86 33 5231,3369 632.5+/-398.6 1591,2049,660 no intron,intron ACPP NM_001099.4,NM_001134194.1 , 1996,3089,1418 TT,TA,AA 39.1744,41.9882,45.5559 , , 132063914 7081,5925 2203 4300 6503 SO:0001627 intron_variant CCDS3073.1, CCDS46916.1 3q22.1 2012-05-16 ENSG00000014257 ENSG00000014257 55 3.1.3.2 125 protein-coding gene gene with protein product 171790 NA Standard NM_001099 NM_001099 NA Approved ACP3, ACP-3 uc003eop.4 P15309 OTTHUMG00000159650 ENST00000475741.1:c.682+11A>T chr3.hg19:g.132063914A>T NA D3DNC6|Q5FBY0|Q96KY0|Q96QK9|Q96QM0 hg19 0.02 6.296655 TTAxAAA COVERED NOVEL ACPP-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000356700.1 0 7.054628 KEEP 0 1 30 34 1060 AA 0.999999 0.999999 0 + 8 60 288 0 0 18.220379 182 60 6621 265 ENST00000475741.1 0.042105 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 132106723 132106723 __UNKNOWN__ IGR SNP G G A rs4017838 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:132106723G>A NA NA ACPP (19581 upstream) : DNAJC13 (29646 downstream) NA NA NA AGAACTCATCGTTGTTTGAAG 0.358 NA A||| 1393 0.278155 0.2005 0.2046 5008 , , NA 20259 0.5317 NA 0.1839 False NA ,,, NA NA NA 2504 0.271 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.132106723G>A NA hg19 0.02 2.003476 ATCxTTG COVERED NOVEL 0 1 2.407894 KEEP 0 0 0 8 287 GG 0.99257 0.99157 0 4 60 149 0 0 9.958492 74 60 2650 109 0.051282 0.998993 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 132106830 132106830 __UNKNOWN__ IGR SNP G G A rs11928811 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:132106830G>A NA NA ACPP (19688 upstream) : DNAJC13 (29539 downstream) NA NA NA TTAGTTCATGGTGGTCCTTCA 0.368 NA G||| 933 0.186302 0.1641 0.0951 5008 , , NA 19117 0.4931 NA 0.0209 False NA ,,, NA NA NA 2504 0.135 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.132106830G>A NA hg19 0.02 4.126584 ATGxTGG COVERED NOVEL 0 1 4.514417 KEEP 0 0 0 15 513 GG 0.99649 0.99649 0 8 60 287 0 0 19.442037 123 60 4456 159 0.061069 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 132106929 132106929 __UNKNOWN__ IGR SNP T T A rs11918232 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:132106929T>A NA NA ACPP (19787 upstream) : DNAJC13 (29440 downstream) NA NA NA TCAGACTTTGTTGTGGCACAG 0.348 NA A||| 1391 0.277756 0.2005 0.2046 5008 , , NA 21484 0.5317 NA 0.1819 False NA ,,, NA NA NA 2504 0.271 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.132106929T>A NA hg19 0.02 6.715544 TTGxTGT COVERED NOVEL 0 2 5.451988 KEEP 0 1 34 30 986 TT 0.999997 0.999997 0 12 60 453 0 0 32.351962 153 60 5539 247 0.072727 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 132107670 132107670 __UNKNOWN__ IGR SNP C C T rs10490864 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:132107670C>T NA NA ACPP (20528 upstream) : DNAJC13 (28699 downstream) NA NA NA CTTATTTTTGCGACTGGTTGC 0.498 NA C||| 937 0.187101 0.1672 0.0951 5008 , , NA 17692 0.4931 NA 0.0209 False NA ,,, NA NA NA 2504 0.135 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.132107670C>T NA hg19 0.02 -0.392054 TTGxGAC COVERED NOVEL 0 4 4.213557 KEEP 0 0 0 14 485 CC 0.995343 0.922325 0 4 60 145 0 0 10.560502 41 60 1431 69 0.088889 0.92664 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 132108757 132108757 __UNKNOWN__ IGR SNP T T G rs150374304|rs553443734|rs6786112 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:132108757T>G NA NA ACPP (21615 upstream) : DNAJC13 (27612 downstream) NA NA NA ATGGGAAATTTttgttgttgt 0.323 NA 926 0.184904 0.1596 0.0922 5008 , , NA 19347 0.494 NA 0.0209 False NA ,,, NA NA NA 2504 0.135 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.132108757T>G NA hg19 0.02 2.361058 ATTxTTG COVERED NOVEL 0 1 3.611147 KEEP 0 0 0 12 388 TT 0.993634 0.981653 0 7 60 267 0 0 20.654086 53 60 1962 91 0.116667 0.987943 ACAD11 84129 __UNKNOWN__ __UNKNOWN__ 3 132363786 132363786 __UNKNOWN__ Intron SNP T T A rs72628560 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:132363786T>A ENST00000264990.6 - 2 1121 ACAD11_ENST00000545291.1_Intron|ACAD11_ENST00000481970.2_Intron|ACAD11_ENST00000489991.1_Intron|ACAD11_ENST00000355458.3_Intron NM_032169.4 NP_115545 Q709F0 ACD11_HUMAN acyl-CoA dehydrogenase family, member 11 NA NA fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539) mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|peroxisome (GO:0005777) flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|very-long-chain-acyl-CoA dehydrogenase activity (GO:0017099) breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 36 AAGATATGTTTTCCGTCATCC 0.358 NA T||| 965 0.192692 0.0734 0.049 5008 , , NA 16852 0.5069 NA 0.1173 False NA ,,, NA NA NA 2504 0.2096 NA NA NA NA 0 T 396,4008 173.7+/-203.5 18,360,1824 35 36 36 3.5 0 3 dbSNP_130 36 895,7705 191.5+/-237.7 56,783,3461 no intron ACAD11 NM_032169.4 74,1143,5285 AA,AT,TT 10.407,8.9918,9.9277 132363786 1291,11713 2202 4300 6502 SO:0001627 intron_variant BC019607 CCDS3074.1 3q22.1 2010-04-30 2010-04-30 ENSG00000240303 ENSG00000240303 84129 30211 protein-coding gene gene with protein product 614288 acyl-Coenzyme A dehydrogenase family, member 11 NA Standard NM_032169 NM_032169 NA Approved FLJ12592 Q709F0 OTTHUMG00000159780 ENST00000264990.6:c.150-46A>T chr3.hg19:g.132363786T>A NA Q08AF0|Q658N9|Q658Y2|Q6ZND2|Q8WUT6|Q9H9R3 hg19 CCDS3074.1 0.02 3.860635 GTTxTCC COVERED NOVEL ACAD11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000357279.2 1 11.736104 KEEP 0 0 0 39 1271 TT 1 1 0 - 10 60 365 0 0 25.351815 139 60 4884 227 ENST00000264990.6 0.067114 1 UBA5 79876 __UNKNOWN__ __UNKNOWN__ 3 132378997 132378997 __UNKNOWN__ 5'UTR SNP G G A rs16839481 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:132378997G>A ENST00000493720.2 + 0 208 UBA5_ENST00000356232.4_5'UTR|UBA5_ENST00000264991.4_Intron|UBA5_ENST00000480955.1_Intron|ACAD11_ENST00000264990.6_5'UTR Q9GZZ9 UBA5_HUMAN ubiquitin-like modifier activating enzyme 5 NA NA protein ufmylation (GO:0071569)|response to endoplasmic reticulum stress (GO:0034976) cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|UFM1 activating enzyme activity (GO:0071566) breast(2)|endometrium(4)|kidney(4)|large_intestine(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 AGACTGTCGAGCCTAAGAATA 0.542 NA G||| 124 0.0247604 0.003 0.1095 5008 , , NA 18491 0.0437 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AY253672 CCDS3076.1, CCDS3077.1 3q22 2007-11-30 2007-11-30 2007-11-30 ENSG00000081307 ENSG00000081307 79876 Ubiquitin-like modifier activating enzymes 23230 protein-coding gene gene with protein product UBA5, ubiquitin-activating enzyme E1 homolog (yeast) 610552 ubiquitin-activating enzyme E1-domain containing 1 UBE1DC1 NA 11230166, 15071506 Standard NM_024818 NM_198329 NA Approved FLJ23251 uc003epa.4 Q9GZZ9 OTTHUMG00000159759 ENST00000493720.2:c.-385G>A chr3.hg19:g.132378997G>A NA A6NJL3|D3DNC8|Q96ST1 hg19 0.02 9.854725 CGAxCCT COVERED NOVEL UBA5-014 PUTATIVE not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000358316.1 6 58.689703 KEEP 0 0 0 195 7003 GG 1 1 0 + 11 60 374 0 0 22.301815 284 60 10495 603 ENST00000493720.2 0.037288 1 UBA5 79876 __UNKNOWN__ __UNKNOWN__ 3 132379065 132379065 __UNKNOWN__ 5'UTR SNP C C T rs2168435 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:132379065C>T ENST00000493720.2 + 0 276 UBA5_ENST00000356232.4_5'UTR|UBA5_ENST00000264991.4_Intron|UBA5_ENST00000480955.1_3'UTR|ACAD11_ENST00000264990.6_5'UTR Q9GZZ9 UBA5_HUMAN ubiquitin-like modifier activating enzyme 5 NA NA protein ufmylation (GO:0071569)|response to endoplasmic reticulum stress (GO:0034976) cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|UFM1 activating enzyme activity (GO:0071566) breast(2)|endometrium(4)|kidney(4)|large_intestine(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 TGGCCTCCTGCCCTGGACACT 0.567 NA C||| 1466 0.292732 0.3805 0.0836 5008 , , NA 17756 0.5734 NA 0.1213 False NA ,,, NA NA NA 2504 0.2096 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AY253672 CCDS3076.1, CCDS3077.1 3q22 2007-11-30 2007-11-30 2007-11-30 ENSG00000081307 ENSG00000081307 79876 Ubiquitin-like modifier activating enzymes 23230 protein-coding gene gene with protein product UBA5, ubiquitin-activating enzyme E1 homolog (yeast) 610552 ubiquitin-activating enzyme E1-domain containing 1 UBE1DC1 NA 11230166, 15071506 Standard NM_024818 NM_198329 NA Approved FLJ23251 uc003epa.4 Q9GZZ9 OTTHUMG00000159759 ENST00000493720.2:c.-317C>T chr3.hg19:g.132379065C>T NA A6NJL3|D3DNC8|Q96ST1 hg19 0.02 12.744558 CTGxCCT COVERED NOVEL UBA5-014 PUTATIVE not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000358316.1 3 58.046889 KEEP 0 0 0 193 6850 CC 1 1 0 + 12 60 439 0 0 27.649847 294 60 10825 641 ENST00000493720.2 0.039216 1 UBA5 79876 __UNKNOWN__ __UNKNOWN__ 3 132395811 132395811 __UNKNOWN__ 3'UTR SNP G G T rs1058331 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:132395811G>T ENST00000493720.2 + 0 1836 UBA5_ENST00000356232.4_3'UTR|UBA5_ENST00000264991.4_3'UTR|UBA5_ENST00000494238.2_3'UTR Q9GZZ9 UBA5_HUMAN ubiquitin-like modifier activating enzyme 5 NA NA protein ufmylation (GO:0071569)|response to endoplasmic reticulum stress (GO:0034976) cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|UFM1 activating enzyme activity (GO:0071566) breast(2)|endometrium(4)|kidney(4)|large_intestine(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 GCAAGCATCTGCTCATTATGT 0.363 NA G||| 1138 0.227236 0.1059 0.0735 5008 , , NA 19958 0.5704 NA 0.16 False NA ,,, NA NA NA 2504 0.2157 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY253672 CCDS3076.1, CCDS3077.1 3q22 2007-11-30 2007-11-30 2007-11-30 ENSG00000081307 ENSG00000081307 79876 Ubiquitin-like modifier activating enzymes 23230 protein-coding gene gene with protein product UBA5, ubiquitin-activating enzyme E1 homolog (yeast) 610552 ubiquitin-activating enzyme E1-domain containing 1 UBE1DC1 NA 11230166, 15071506 Standard NM_024818 NM_198329 NA Approved FLJ23251 uc003epa.4 Q9GZZ9 OTTHUMG00000159759 ENST00000493720.2:c.*110G>T chr3.hg19:g.132395811G>T NA A6NJL3|D3DNC8|Q96ST1 hg19 0.02 15.211633 TCTxCTC COVERED NOVEL UBA5-014 PUTATIVE not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000358316.1 2 6.922267 KEEP 0 0 0 23 799 GG 0.999892 0.999892 0 + 26 60 934 0 0 65.505538 327 60 12067 394 ENST00000493720.2 0.073654 1 NPHP3 27031 __UNKNOWN__ __UNKNOWN__ 3 132400970 132400970 __UNKNOWN__ Intron SNP A A C rs200951136 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:132400970A>C ENST00000337331.5 - 27 3899 NPHP3_ENST00000326682.8_Intron NM_153240.4 NP_694972.3 Q7Z494 NPHP3_HUMAN nephronophthisis 3 (adolescent) NA NA atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055) cilium (GO:0005929)|primary cilium (GO:0072372) NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 TAAAATGAGAATATAACCTCT 0.338 NA A||| 5 0.000998403 0.0 0.0 5008 , , NA 18868 0.005 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 43 46 45 NA NA 3 NA 132400970 2202 4298 6500 SO:0001627 intron_variant AB056657 CCDS3078.1 3q22 2014-07-18 ENSG00000113971 ENSG00000113971 27031 Tetratricopeptide (TTC) repeat domain containing 7907 protein-coding gene gene with protein product nephrocystin-3, Meckel syndrome, type 7, cilia and flagella associated protein 31 608002 NA 12872122, 15381417 Standard NM_153240 NM_153240 NA Approved NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31 uc003epe.2 Q7Z494 OTTHUMG00000159713 ENST00000337331.5:c.3813-36T>G chr3.hg19:g.132400970A>C NA Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2 hg19 CCDS3078.1 0.02 8.468974 AGAxTAT COVERED NOVEL NPHP3-006 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000357020.2 1 5.41485 KEEP 0 0 0 18 533 AA 0.999859 0.999859 0 - 9 60 329 0 0 20.772963 217 60 7951 245 ENST00000337331.5 0.039823 1 NPHP3 27031 __UNKNOWN__ __UNKNOWN__ 3 132413875 132413875 __UNKNOWN__ Intron SNP G G A rs12633369 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:132413875G>A ENST00000337331.5 - 16 2258 NPHP3_ENST00000326682.8_Intron NM_153240.4 NP_694972.3 Q7Z494 NPHP3_HUMAN nephronophthisis 3 (adolescent) NA NA atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055) cilium (GO:0005929)|primary cilium (GO:0072372) NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 TTTTGAGATCGATTAAAAACA 0.348 NA g||| 909 0.18151 0.0499 0.0259 5008 , , NA 17375 0.5734 NA 0.0567 False NA ,,, NA NA NA 2504 0.1943 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB056657 CCDS3078.1 3q22 2014-07-18 ENSG00000113971 ENSG00000113971 27031 Tetratricopeptide (TTC) repeat domain containing 7907 protein-coding gene gene with protein product nephrocystin-3, Meckel syndrome, type 7, cilia and flagella associated protein 31 608002 NA 12872122, 15381417 Standard NM_153240 NM_153240 NA Approved NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31 uc003epe.2 Q7Z494 OTTHUMG00000159713 ENST00000337331.5:c.2172-66C>T chr3.hg19:g.132413875G>A NA Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2 hg19 CCDS3078.1 0.02 5.320996 ATCxATT COVERED NOVEL NPHP3-006 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000357020.2 2 7.825173 KEEP 0 0 0 26 886 GG 0.999957 0.999957 0 - 8 60 282 0 0 17.473975 190 60 6961 242 ENST00000337331.5 0.040404 1 TMEM108 66000 __UNKNOWN__ __UNKNOWN__ 3 133099245 133099245 __UNKNOWN__ Silent SNP G G A rs1197314 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:133099245G>A ENST00000321871.6 + 4 900 c.690G>A c.(688-690)ccG>ccA p.P230P TMEM108_ENST00000515826.1_Silent_p.P230P|TMEM108_ENST00000393130.3_Silent_p.P230P|TMEM108_ENST00000508711.1_Intron NM_001136469.1|NM_023943.2 NP_001129941.1|NP_076432.1 Q6UXF1 TM108_HUMAN transmembrane protein 108 230 NA integral component of membrane (GO:0016021) endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 CTGTGGAACCGGAGCCCTCTA 0.597 NA A||| 1904 0.380192 0.2587 0.4856 5008 , , NA 16181 0.3909 NA 0.4473 False NA ,,, NA NA NA 2504 0.3896 NA NA NA NA 0 A , 1318,3088 696.6+/-406.1 194,930,1079 43 46 45 690,690 -0.1 0 3 dbSNP_87 45 3718,4882 618.2+/-396.8 794,2130,1376 yes coding-synonymous,coding-synonymous TMEM108 NM_001136469.1,NM_023943.2 , 988,3060,2455 AA,AG,GG 43.2326,29.9138,38.7206 , 230/576,230/576 133099245 5036,7970 2203 4300 6503 SO:0001819 synonymous_variant AL136578 CCDS33858.1, CCDS75012.1 3q22.1 2014-04-07 ENSG00000144868 ENSG00000144868 66000 28451 protein-coding gene gene with protein product cancer/testis antigen 124 NA 11214970 Standard NM_023943 XM_005247726 NA Approved MGC3040, CT124 uc003epi.3 Q6UXF1 OTTHUMG00000159685 ENST00000321871.6:c.690G>A chr3.hg19:g.133099245G>A NA D3DNC9|Q9BQH1|Q9BW81|Q9C0H3 hg19 CCDS33858.1 0.02 14.304973 ACCxGAG COVERED NOVEL TMEM108-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000356907.2 1 9.765993 KEEP 0 1 33 44 1502 GG 1 1 0 + 38 60 1432 0 0 110.002724 295 60 10364 479 ENST00000321871.6 0.114114 1 TMEM108 66000 __UNKNOWN__ __UNKNOWN__ 3 133105637 133105637 __UNKNOWN__ Intron SNP C C T rs1197299 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:133105637C>T ENST00000321871.6 + 5 1660 TMEM108_ENST00000515826.1_3'UTR|TMEM108_ENST00000393130.3_Intron|TMEM108_ENST00000508711.1_Intron NM_001136469.1|NM_023943.2 NP_001129941.1|NP_076432.1 Q6UXF1 TM108_HUMAN transmembrane protein 108 NA NA integral component of membrane (GO:0016021) endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 CAGGACAATACAGGATAGTGG 0.408 NA T||| 2125 0.424321 0.3964 0.4986 5008 , , NA 24246 0.3919 NA 0.4791 False NA ,,, NA NA NA 2504 0.3865 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL136578 CCDS33858.1, CCDS75012.1 3q22.1 2014-04-07 ENSG00000144868 ENSG00000144868 66000 28451 protein-coding gene gene with protein product cancer/testis antigen 124 NA 11214970 Standard NM_023943 XM_005247726 NA Approved MGC3040, CT124 uc003epi.3 Q6UXF1 OTTHUMG00000159685 ENST00000321871.6:c.1451-3387C>T chr3.hg19:g.133105637C>T NA D3DNC9|Q9BQH1|Q9BW81|Q9C0H3 hg19 CCDS33858.1 0.02 4.296598 ATAxAGG COVERED NOVEL TMEM108-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000356907.2 0 5.718808 KEEP 0 0 0 19 688 CC 0.99986 0.999859 0 + 7 60 263 0 0 17.977465 116 60 4410 168 ENST00000321871.6 0.056911 0.999999 TMEM108 66000 __UNKNOWN__ __UNKNOWN__ 3 133107193 133107193 __UNKNOWN__ Intron SNP G G T rs1197297 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:133107193G>T ENST00000321871.6 + 5 1660 TMEM108_ENST00000515826.1_3'UTR|TMEM108_ENST00000393130.3_Intron|TMEM108_ENST00000508711.1_Intron NM_001136469.1|NM_023943.2 NP_001129941.1|NP_076432.1 Q6UXF1 TM108_HUMAN transmembrane protein 108 NA NA integral component of membrane (GO:0016021) endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 ctgtggcaaggcggccagcac 0.552 NA T||| 2283 0.455871 0.4743 0.5029 5008 , , NA 17798 0.4058 NA 0.495 False NA ,,, NA NA NA 2504 0.409 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL136578 CCDS33858.1, CCDS75012.1 3q22.1 2014-04-07 ENSG00000144868 ENSG00000144868 66000 28451 protein-coding gene gene with protein product cancer/testis antigen 124 NA 11214970 Standard NM_023943 XM_005247726 NA Approved MGC3040, CT124 uc003epi.3 Q6UXF1 OTTHUMG00000159685 ENST00000321871.6:c.1451-1831G>T chr3.hg19:g.133107193G>T NA D3DNC9|Q9BQH1|Q9BW81|Q9C0H3 hg19 CCDS33858.1 0.02 1.878342 AAGxCGG COVERED NOVEL TMEM108-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000356907.2 0 2.708678 KEEP 0 0 0 9 318 GG 0.99254 0.991863 0 + 5 60 182 0 0 12.440448 76 60 2783 102 ENST00000321871.6 0.061728 0.999317 TMEM108 66000 __UNKNOWN__ __UNKNOWN__ 3 133108978 133108978 __UNKNOWN__ Intron SNP A A G rs1197296 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:133108978A>G ENST00000321871.6 + 5 1660 TMEM108_ENST00000393130.3_Intron|TMEM108_ENST00000508711.1_Intron NM_001136469.1|NM_023943.2 NP_001129941.1|NP_076432.1 Q6UXF1 TM108_HUMAN transmembrane protein 108 NA NA integral component of membrane (GO:0016021) endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 CCCAGGCACCATCCTTGCTGC 0.557 NA A||| 1586 0.316693 0.0779 0.4539 5008 , , NA 20975 0.3968 NA 0.4443 False NA ,,, NA NA NA 2504 0.3282 NA NA NA NA 0 A , 592,3814 260.7+/-263.8 45,502,1656 125 119 121 , -6.4 0 3 dbSNP_87 121 3673,4927 526.9+/-381.1 759,2155,1386 no intron,intron TMEM108 NM_001136469.1,NM_023943.2 , 804,2657,3042 GG,GA,AA 42.7093,13.4362,32.7926 , , 133108978 4265,8741 2203 4300 6503 SO:0001627 intron_variant AL136578 CCDS33858.1, CCDS75012.1 3q22.1 2014-04-07 ENSG00000144868 ENSG00000144868 66000 28451 protein-coding gene gene with protein product cancer/testis antigen 124 NA 11214970 Standard NM_023943 XM_005247726 NA Approved MGC3040, CT124 uc003epi.3 Q6UXF1 OTTHUMG00000159685 ENST00000321871.6:c.1451-46A>G chr3.hg19:g.133108978A>G NA D3DNC9|Q9BQH1|Q9BW81|Q9C0H3 hg19 CCDS33858.1 0.02 1.768942 ACCxTCC COVERED NOVEL TMEM108-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000356907.2 0 2.407413 KEEP 0 0 0 8 253 AA 0.99257 0.991982 0 + 8 60 254 0 0 17.838762 74 60 2660 96 ENST00000321871.6 0.097561 0.999407 TOPBP1 11073 __UNKNOWN__ __UNKNOWN__ 3 133329943 133329943 __UNKNOWN__ Silent SNP G G A rs1444601 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:133329943G>A ENST00000260810.5 - 25 4209 c.4078C>T c.(4078-4080)Ctg>Ttg p.L1360L NM_007027.3 NP_008958.2 Q92547 TOPB1_HUMAN topoisomerase (DNA) II binding protein 1 1360 NA cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212) chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605) DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022) breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 40 ATTCCAGTCAGAACATCAAGT 0.418 NA Other conserved DNA damage response genes A||| 3416 0.682109 0.7829 0.634 5008 , , NA 17725 0.626 NA 0.7465 False NA ,,, NA NA NA 2504 0.5716 NA NA NA Ovarian(21;193 658 4424 15423 17362) NA 0 A 2917,841 1131,655,93 195 182 186 4078 0.4 1 3 dbSNP_88 186 6028,2192 2227,1574,309 no coding-synonymous TOPBP1 NM_007027.3 3358,2229,402 AA,AG,GG 26.6667,22.3789,25.3214 1360/1523 133329943 8945,3033 1879 4110 5989 SO:0001819 synonymous_variant AB019397 CCDS46919.1 3q22.1 2004-06-21 ENSG00000163781 ENSG00000163781 11073 17008 protein-coding gene gene with protein product 607760 NA 9461304, 9039502 Standard NM_007027 NM_007027 NA Approved KIAA0259, TOP2BP1 uc003eps.3 Q92547 OTTHUMG00000159773 ENST00000260810.5:c.4078C>T chr3.hg19:g.133329943G>A NA B7Z7W8|Q7LGC1|Q9UEB9 hg19 CCDS46919.1 0.02 14.323027 TCAxAAC COVERED NOVEL TOPBP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000357254.1 0 17.456668 KEEP 0 0 0 58 2047 GG 1 1 0 - 23 60 840 0 0 59.459663 285 60 10878 447 ENST00000260810.5 0.074675 1 TOPBP1 11073 __UNKNOWN__ __UNKNOWN__ 3 133368362 133368362 __UNKNOWN__ Missense_Mutation SNP T T G rs3192149 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:133368362T>G ENST00000260810.5 - 10 1500 c.1369A>C c.(1369-1371)Aag>Cag p.K457Q TOPBP1_ENST00000511439.1_5'UTR NM_007027.3 NP_008958.2 Q92547 TOPB1_HUMAN topoisomerase (DNA) II binding protein 1 457 NA K -> Q (in Ref. 1; BAA34202 and 2; BAA13389). {ECO:0000305}. cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212) chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605) DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022) breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 40 CTTTCAGGCTTATGTGAAACT 0.383 NA Other conserved DNA damage response genes G||| 3485 0.695887 0.7905 0.6398 5008 , , NA 18413 0.625 NA 0.7724 False NA ,,, NA NA NA 2504 0.6022 NA NA NA Ovarian(21;193 658 4424 15423 17362) NA 0 G GLN/LYS 2902,788 1141,620,84 165 155 158 1369 4.8 0.9 3 dbSNP_105 158 6273,1909 2416,1441,234 yes missense TOPBP1 NM_007027.3 53 3557,2061,318 GG,GT,TT 23.3317,21.355,22.7173 benign 457/1523 133368362 9175,2697 1845 4091 5936 SO:0001583 missense AB019397 CCDS46919.1 3q22.1 2004-06-21 ENSG00000163781 ENSG00000163781 11073 17008 protein-coding gene gene with protein product 607760 NA 9461304, 9039502 Standard NM_007027 NM_007027 NA Approved KIAA0259, TOP2BP1 uc003eps.3 Q92547 OTTHUMG00000159773 ENST00000260810.5:c.1369A>C chr3.hg19:g.133368362T>G ENSP00000260810:p.Lys457Gln NA B7Z7W8|Q7LGC1|Q9UEB9 hg19 CCDS46919.1 0.02 14.054512 GCTxATG COVERED 1558 0.7133699633699634 384 0.7804878048780488 226 0.6243093922651933 364 0.6363636363636364 584 0.7704485488126649 G 2.916 -0.224167 0.06061 0.78645 0.766683 ENSG00000163781 ENST00000260810 T 0.11712 2.75 5.72 4.84 0.62591 . 0.483083 0.23775 N 0.044697 T 0.00012 0.0000 N 0.00368 -1.59 0.58432 P 1.0000000000287557E-6 B 0.02656 0.0 B 0.01281 0.0 T 0.19943 -1.0290 9 0.09843 T 0.71 . 15.3445 0.74324 0.0:0.0:0.7446:0.2554 rs3192149;rs16840574;rs52800635;rs58841240;rs3192149 457 Q92547 TOPB1_HUMAN Q 457 ENSP00000260810:K457Q ENSP00000260810:K457Q K - 1 0 TOPBP1 134851052 0.993000 0.37304 0.921000 0.36526 0.784000 0.44337 3.153000 0.50685 0.777000 0.33496 -0.127000 0.14921 AAG NOVEL TOPBP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000357254.1 1 9.559578 KEEP 0 1 35 44 1312 TT 1 1 0 - 28 60 1070 0 0 77.99234 322 60 11624 461 ENST00000260810.5 0.08 1 SRPRB 58477 __UNKNOWN__ __UNKNOWN__ 3 133524591 133524591 __UNKNOWN__ 5'UTR SNP A A G rs60142346 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:133524591A>G ENST00000466490.2 + 0 184 NM_021203.3 NP_067026.3 Q9Y5M8 SRPRB_HUMAN signal recognition particle receptor, B subunit NA NA activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|small GTPase mediated signal transduction (GO:0007264)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412) cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020) GTP binding (GO:0005525) breast(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2) 12 GGGAGAGACTATGGCTTAGGA 0.607 NA A||| 1202 0.240016 0.031 0.1801 5008 , , NA 17447 0.4841 NA 0.1779 False NA ,,, NA NA NA 2504 0.3773 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AK075531 CCDS3081.1 3q22.1 2004-01-29 ENSG00000144867 ENSG00000144867 58477 24085 protein-coding gene gene with protein product NA 7844142, 10859309 Standard NM_021203 NA Approved APMCF1 uc003epx.2 Q9Y5M8 OTTHUMG00000159753 ENST00000466490.2:c.-102A>G chr3.hg19:g.133524591A>G NA Q6P595|Q8N2D8 hg19 CCDS3081.1 0.02 18.063491 ACTxTGG COVERED NOVEL SRPRB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000357170.2 1 27.676996 KEEP 0 0 0 92 2790 AA 1 1 0 + 16 60 601 0 0 38.313283 399 60 14110 588 ENST00000466490.2 0.038554 1 RAB6B 51560 __UNKNOWN__ __UNKNOWN__ 3 133543917 133543917 __UNKNOWN__ 3'UTR SNP G G A rs7626433 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:133543917G>A ENST00000285208.4 - 0 4691 RAB6B_ENST00000543906.1_3'UTR NM_016577.3 NP_057661.3 Q9NRW1 RAB6B_HUMAN RAB6B, member RAS oncogene family NA NA GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264) cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|membrane (GO:0016020) GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489) NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1) 11 ACGAGTGTGCGCACAATCTGC 0.522 NA A||| 1409 0.28135 0.2897 0.2997 5008 , , NA 25246 0.3929 NA 0.1799 False NA ,,, NA NA NA 2504 0.2464 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF166492 CCDS3082.1 3q22.1 2008-05-15 ENSG00000154917 ENSG00000154917 51560 RAB, member RAS oncogene 14902 protein-coding gene gene with protein product 615852 NA Standard NM_016577 NA Approved uc003epy.3 Q9NRW1 OTTHUMG00000159749 ENST00000285208.4:c.*3715C>T chr3.hg19:g.133543917G>A NA B2R5Z9|B7Z337|D3DND3|Q92929 hg19 CCDS3082.1 0.02 8.550435 TGCxCAC COVERED NOVEL RAB6B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000357152.1 1 7.824881 KEEP 0 0 0 26 888 GG 0.999957 0.999957 0 - 8 60 293 0 0 18.251731 209 60 7100 276 ENST00000285208.4 0.036866 1 RAB6B 51560 __UNKNOWN__ __UNKNOWN__ 3 133544008 133544008 __UNKNOWN__ 3'UTR SNP G G C rs3811659 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:133544008G>C ENST00000285208.4 - 0 4600 RAB6B_ENST00000543906.1_3'UTR NM_016577.3 NP_057661.3 Q9NRW1 RAB6B_HUMAN RAB6B, member RAS oncogene family NA NA GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264) cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|membrane (GO:0016020) GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489) NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1) 11 CGGCTACCTGGTCCCATCTCA 0.552 NA G||| 1460 0.291534 0.208 0.3256 5008 , , NA 24544 0.4028 NA 0.2386 False NA ,,, NA NA NA 2504 0.32 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF166492 CCDS3082.1 3q22.1 2008-05-15 ENSG00000154917 ENSG00000154917 51560 RAB, member RAS oncogene 14902 protein-coding gene gene with protein product 615852 NA Standard NM_016577 NA Approved uc003epy.3 Q9NRW1 OTTHUMG00000159749 ENST00000285208.4:c.*3624C>G chr3.hg19:g.133544008G>C NA B2R5Z9|B7Z337|D3DND3|Q92929 hg19 CCDS3082.1 0.02 11.734139 CTGxTCC COVERED NOVEL RAB6B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000357152.1 1 10.23307 KEEP 0 0 0 34 1204 GG 0.999998 0.999998 0 - 10 60 388 0 0 24.936509 264 60 9728 375 ENST00000285208.4 0.036496 1 RAB6B 51560 __UNKNOWN__ __UNKNOWN__ 3 133544998 133544998 __UNKNOWN__ 3'UTR SNP A A G rs1043147 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:133544998A>G ENST00000285208.4 - 0 3610 RAB6B_ENST00000543906.1_3'UTR NM_016577.3 NP_057661.3 Q9NRW1 RAB6B_HUMAN RAB6B, member RAS oncogene family NA NA GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264) cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|membrane (GO:0016020) GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489) NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1) 11 CCATGGAACCACTGAGATGGG 0.582 NA G||| 1506 0.300719 0.2481 0.3386 5008 , , NA 19195 0.3929 NA 0.2545 False NA ,,, NA NA NA 2504 0.2975 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF166492 CCDS3082.1 3q22.1 2008-05-15 ENSG00000154917 ENSG00000154917 51560 RAB, member RAS oncogene 14902 protein-coding gene gene with protein product 615852 NA Standard NM_016577 NA Approved uc003epy.3 Q9NRW1 OTTHUMG00000159749 ENST00000285208.4:c.*2634T>C chr3.hg19:g.133544998A>G NA B2R5Z9|B7Z337|D3DND3|Q92929 hg19 CCDS3082.1 0.02 8.781476 ACCxCTG COVERED NOVEL RAB6B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000357152.1 3 3.074557 KEEP 0 2 53 29 880 AA 0.999997 0.999997 0 - 19 60 658 0 0 46.18181 217 60 7739 316 ENST00000285208.4 0.080508 1 RAB6B 51560 __UNKNOWN__ __UNKNOWN__ 3 133546297 133546297 __UNKNOWN__ 3'UTR SNP C C T rs12637730 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:133546297C>T ENST00000285208.4 - 0 2311 RAB6B_ENST00000543906.1_3'UTR NM_016577.3 NP_057661.3 Q9NRW1 RAB6B_HUMAN RAB6B, member RAS oncogene family NA NA GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264) cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|membrane (GO:0016020) GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489) NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1) 11 GAGTTCTCTTCAGAGACTTTG 0.498 NA C||| 1037 0.207069 0.0242 0.268 5008 , , NA 18720 0.3869 NA 0.172 False NA ,,, NA NA NA 2504 0.2618 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF166492 CCDS3082.1 3q22.1 2008-05-15 ENSG00000154917 ENSG00000154917 51560 RAB, member RAS oncogene 14902 protein-coding gene gene with protein product 615852 NA Standard NM_016577 NA Approved uc003epy.3 Q9NRW1 OTTHUMG00000159749 ENST00000285208.4:c.*1335G>A chr3.hg19:g.133546297C>T NA B2R5Z9|B7Z337|D3DND3|Q92929 hg19 CCDS3082.1 0.02 8.014116 CTTxAGA COVERED NOVEL RAB6B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000357152.1 2 6.614626 KEEP 0 0 0 22 729 CC 0.999879 0.999879 0 - 8 60 290 0 0 17.88272 213 60 8136 281 ENST00000285208.4 0.036199 1 RAB6B 51560 __UNKNOWN__ __UNKNOWN__ 3 133547216 133547216 __UNKNOWN__ 3'UTR SNP T T C rs2293375 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:133547216T>C ENST00000285208.4 - 0 1392 RAB6B_ENST00000469959.1_Intron|RAB6B_ENST00000543906.1_3'UTR NM_016577.3 NP_057661.3 Q9NRW1 RAB6B_HUMAN RAB6B, member RAS oncogene family NA NA GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264) cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|membrane (GO:0016020) GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489) NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1) 11 AGGTGATGAATGGTTCAAAGA 0.393 NA C||| 1338 0.267173 0.1104 0.3199 5008 , , NA 16827 0.4306 NA 0.2445 False NA ,,, NA NA NA 2504 0.2965 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF166492 CCDS3082.1 3q22.1 2008-05-15 ENSG00000154917 ENSG00000154917 51560 RAB, member RAS oncogene 14902 protein-coding gene gene with protein product 615852 NA Standard NM_016577 NA Approved uc003epy.3 Q9NRW1 OTTHUMG00000159749 ENST00000285208.4:c.*416A>G chr3.hg19:g.133547216T>C NA B2R5Z9|B7Z337|D3DND3|Q92929 hg19 CCDS3082.1 0.02 4.172814 GAAxGGT COVERED NOVEL RAB6B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000357152.1 2 6.018313 KEEP 0 0 0 20 632 TT 0.999863 0.99984 0 - 5 60 171 0 0 10.805251 98 60 3577 141 ENST00000285208.4 0.048544 0.999978 RAB6B 51560 __UNKNOWN__ __UNKNOWN__ 3 133547245 133547245 __UNKNOWN__ 3'UTR SNP G G A rs2293374 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:133547245G>A ENST00000285208.4 - 0 1363 RAB6B_ENST00000469959.1_Intron|RAB6B_ENST00000543906.1_3'UTR NM_016577.3 NP_057661.3 Q9NRW1 RAB6B_HUMAN RAB6B, member RAS oncogene family NA NA GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264) cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|membrane (GO:0016020) GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489) NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1) 11 AGGAGGAGGTGTGTGGAAAAG 0.333 NA G||| 1016 0.202875 0.0091 0.2666 5008 , , NA 16653 0.3879 NA 0.172 False NA ,,, NA NA NA 2504 0.2607 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF166492 CCDS3082.1 3q22.1 2008-05-15 ENSG00000154917 ENSG00000154917 51560 RAB, member RAS oncogene 14902 protein-coding gene gene with protein product 615852 NA Standard NM_016577 NA Approved uc003epy.3 Q9NRW1 OTTHUMG00000159749 ENST00000285208.4:c.*387C>T chr3.hg19:g.133547245G>A NA B2R5Z9|B7Z337|D3DND3|Q92929 hg19 CCDS3082.1 0.02 1.936724 GGTxTGT COVERED NOVEL RAB6B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000357152.1 1 3.245457 KEEP 0 1 32 22 758 GG 0.999892 0.999832 0 - 5 60 179 0 0 11.737129 92 60 3355 145 ENST00000285208.4 0.051546 0.99994 RAB6B 51560 __UNKNOWN__ __UNKNOWN__ 3 133547692 133547692 __UNKNOWN__ Silent SNP G G A rs2293373 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:133547692G>A ENST00000285208.4 - 8 916 c.567C>T c.(565-567)atC>atT p.I189I RAB6B_ENST00000469959.1_Intron|RAB6B_ENST00000543906.1_Silent_p.I189I|RAB6B_ENST00000486858.1_Silent_p.I176I NM_016577.3 NP_057661.3 Q9NRW1 RAB6B_HUMAN RAB6B, member RAS oncogene family 189 NA GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264) cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|membrane (GO:0016020) GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489) NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1) 11 GCTTGATGTCGATCACTGCAG 0.597 NA G||| 1014 0.202476 0.0091 0.2666 5008 , , NA 16826 0.3869 NA 0.171 False NA ,,, NA NA NA 2504 0.2607 NA NA NA NA 0 G 154,4252 106.0+/-144.5 5,144,2054 111 122 118 567 -4.8 0.9 3 dbSNP_100 118 1274,7326 253.9+/-279.4 100,1074,3126 no coding-synonymous RAB6B NM_016577.3 105,1218,5180 AA,AG,GG 14.814,3.4952,10.9795 189/209 133547692 1428,11578 2203 4300 6503 SO:0001819 synonymous_variant AF166492 CCDS3082.1 3q22.1 2008-05-15 ENSG00000154917 ENSG00000154917 51560 RAB, member RAS oncogene 14902 protein-coding gene gene with protein product 615852 NA Standard NM_016577 NA Approved uc003epy.3 Q9NRW1 OTTHUMG00000159749 ENST00000285208.4:c.567C>T chr3.hg19:g.133547692G>A NA B2R5Z9|B7Z337|D3DND3|Q92929 hg19 CCDS3082.1 0.02 17.831777 GTCxATC COVERED NOVEL RAB6B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000357152.1 0 10.867056 KEEP 0 1 31 47 1592 GG 1 1 0 - 15 60 531 0 0 31.699844 436 60 15811 560 ENST00000285208.4 0.033259 1 RAB6B 51560 __UNKNOWN__ __UNKNOWN__ 3 133583577 133583577 __UNKNOWN__ Intron SNP C C T rs3811646 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:133583577C>T ENST00000285208.4 - 2 420 RAB6B_ENST00000486858.1_Intron|RAB6B_ENST00000469959.1_Intron|RAB6B_ENST00000543906.1_Intron NM_016577.3 NP_057661.3 Q9NRW1 RAB6B_HUMAN RAB6B, member RAS oncogene family NA NA GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264) cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|membrane (GO:0016020) GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489) NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1) 11 ATAACAAAACCAAAAAGCACA 0.502 NA C||| 736 0.146965 0.0045 0.268 5008 , , NA 20854 0.1339 NA 0.2266 False NA ,,, NA NA NA 2504 0.1851 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF166492 CCDS3082.1 3q22.1 2008-05-15 ENSG00000154917 ENSG00000154917 51560 RAB, member RAS oncogene 14902 protein-coding gene gene with protein product 615852 NA Standard NM_016577 NA Approved uc003epy.3 Q9NRW1 OTTHUMG00000159749 ENST00000285208.4:c.71-91G>A chr3.hg19:g.133583577C>T NA B2R5Z9|B7Z337|D3DND3|Q92929 hg19 CCDS3082.1 0.02 19.957887 AACxAAA COVERED NOVEL RAB6B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000357152.1 2 14.748247 KEEP 0 0 0 49 1767 CC 1 1 0 - 17 60 614 0 0 37.941502 443 60 16903 595 ENST00000285208.4 0.036957 1 SLCO2A1 6578 __UNKNOWN__ __UNKNOWN__ 3 133666209 133666209 __UNKNOWN__ Missense_Mutation SNP C C T rs34550074 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:133666209C>T ENST00000493729.1 - 8 1069 c.958G>A c.(958-960)Gcc>Acc p.A320T SLCO2A1_ENST00000310926.4_Missense_Mutation_p.A396T Q92959 SO2A1_HUMAN solute carrier organic anion transporter family, member 2A1 396 NA lipid transport (GO:0006869)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085) integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886) lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132) p.A396T(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2) 30 Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119) CGGGGAATGGCTTGTAGAGAG 0.502 NA T||| 1421 0.283746 0.4297 0.2536 5008 , , NA 19189 0.2817 NA 0.1899 False NA ,,, NA NA NA 2504 0.2065 NA NA NA NA 1 Substitution - Missense(1) stomach(1) T THR/ALA 1807,2599 640.3+/-397.3 388,1031,784 126 112 117 1186 4.6 1 3 dbSNP_126 117 1608,6992 743.2+/-407.2 152,1304,2844 yes missense SLCO2A1 NM_005630.2 58 540,2335,3628 TT,TC,CC 18.6977,41.0123,26.2571 benign 396/644 133666209 3415,9591 2203 4300 6503 SO:0001583 missense CCDS3084.1 3q21 2013-05-22 2003-11-25 2003-11-26 ENSG00000174640 ENSG00000174640 6578 Solute carriers 10955 protein-coding gene gene with protein product 601460 solute carrier family 21 (prostaglandin transporter), member 2, matrin F/G 1 SLC21A2, MATR1 NA 8787677, 9618293 Standard NM_005630 NM_005630 NA Approved PGT, OATP2A1 uc003eqa.4 Q92959 OTTHUMG00000159745 ENST00000493729.1:c.958G>A chr3.hg19:g.133666209C>T ENSP00000418893:p.Ala320Thr NA Q86V98|Q8IUN2 hg19 0.02 6.516387 TGGxTTG COVERED 605 0.27701465201465203 202 0.4105691056910569 95 0.26243093922651933 152 0.26573426573426573 156 0.20580474934036938 T 1.317 -0.600463 0.03744 0.410123 0.186977 ENSG00000174640 ENST00000310926;ENST00000493729 T;T 0.39229 1.09;1.09 5.72 4.55 0.56014 Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1); 0.342974 0.34291 N 0.004099 T 0.00012 0.0000 N 0.03224 -0.385 0.47123 P 6.749999999999812E-4 B;B 0.06786 0.0;0.001 B;B 0.09377 0.002;0.004 T 0.47560 -0.9108 9 0.20519 T 0.43 . 8.1198 0.30965 0.0:0.2794:0.0:0.7206 rs34550074 320;396 E7EU40;Q92959 .;SO2A1_HUMAN T 396;320 ENSP00000311291:A396T;ENSP00000418893:A320T ENSP00000311291:A396T A - 1 0 SLCO2A1 135148899 0.959000 0.32827 1.000000 0.80357 0.096000 0.18686 0.518000 0.22847 0.437000 0.26423 -0.254000 0.11334 GCC NOVEL SLCO2A1-004 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000357134.1 0 3.746775 KEEP 0 1 30 23 826 CC 0.999909 0.999909 0 - 10 60 363 0 0 24.694152 155 60 5812 238 ENST00000493729.1 0.060606 1 SLCO2A1 6578 __UNKNOWN__ __UNKNOWN__ 3 133698280 133698280 __UNKNOWN__ Intron SNP C C G rs4640563 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:133698280C>G ENST00000493729.1 - 2 346 SLCO2A1_ENST00000310926.4_Intron|SLCO2A1_ENST00000478651.1_Intron Q92959 SO2A1_HUMAN solute carrier organic anion transporter family, member 2A1 NA NA lipid transport (GO:0006869)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085) integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886) lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2) 30 Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119) TTGTGGTCAGCGTGGTGCACA 0.527 NA G||| 4492 0.896965 0.8767 0.9222 5008 , , NA 21813 0.9375 NA 0.8897 False NA ,,, NA NA NA 2504 0.8722 NA NA NA NA 0 G 3853,553 249.3+/-256.8 1684,485,34 120 122 121 -0.4 0 3 dbSNP_111 121 7576,1024 219.4+/-257.5 3344,888,68 no intron SLCO2A1 NM_005630.2 5028,1373,102 GG,GC,CC 11.907,12.5511,12.1252 133698280 11429,1577 2203 4300 6503 SO:0001627 intron_variant CCDS3084.1 3q21 2013-05-22 2003-11-25 2003-11-26 ENSG00000174640 ENSG00000174640 6578 Solute carriers 10955 protein-coding gene gene with protein product 601460 solute carrier family 21 (prostaglandin transporter), member 2, matrin F/G 1 SLC21A2, MATR1 NA 8787677, 9618293 Standard NM_005630 NM_005630 NA Approved PGT, OATP2A1 uc003eqa.4 Q92959 OTTHUMG00000159745 ENST00000493729.1:c.234+44G>C chr3.hg19:g.133698280C>G NA Q86V98|Q8IUN2 hg19 0.02 4.681761 CAGxGTG COVERED NOVEL SLCO2A1-004 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000357134.1 0 8.424155 KEEP 0 0 0 28 944 CC 0.999997 0.999997 0 - 9 60 339 0 0 23.807419 127 60 4624 199 ENST00000493729.1 0.066176 1 RYK 6259 __UNKNOWN__ __UNKNOWN__ 3 133913889 133913889 __UNKNOWN__ Intron SNP T T C rs12631354 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:133913889T>C ENST00000427044.2 - 8 924 RYK_ENST00000296084.4_Intron P34925 RYK_HUMAN receptor-like tyrosine kinase NA NA axon guidance (GO:0007411)|corpus callosum development (GO:0022038)|neuron differentiation (GO:0030182)|neuron projection development (GO:0031175)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of MAPK cascade (GO:0043410)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055) cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888) lung(1)|ovary(3) 4 CATAGACAACTTGAGTAAACT 0.423 NA T||| 1050 0.209665 0.1641 0.1974 5008 , , NA 19018 0.3244 NA 0.0179 False NA ,,, NA NA NA 2504 0.3589 NA NA NA NA 0 T , 597,3277 46,505,1386 67 67 67 , -3.3 0 3 dbSNP_120 67 123,8155 0,123,4016 no intron,intron RYK NM_001005861.2,NM_002958.3 , 46,628,5402 CC,CT,TT 1.4859,15.4104,5.925 , , 133913889 720,11432 1937 4139 6076 SO:0001627 intron_variant S59184 CCDS75016.1 3q22.1 2012-02-28 2012-02-28 ENSG00000163785 ENSG00000163785 6259 2.7.10.1 10481 protein-coding gene gene with protein product 600524 JTK5A protein tyrosine kinase, RYK receptor-like tyrosine kinase JTK5A NA 8386829 Standard NM_001005861 NM_001005861 NA Approved D3S3195, RYK1, JTK5 uc003eqc.1 P34925 OTTHUMG00000159750 ENST00000427044.2:c.313+36A>G chr3.hg19:g.133913889T>C NA Q04696 hg19 0.02 9.045236 AACxTGA COVERED NOVEL RYK-202 KNOWN basic|appris_principal protein_coding NA protein_coding 2 13.84321 KEEP 0 0 0 46 1498 TT 1 1 0 - 10 60 374 0 0 24.124809 230 60 8502 326 ENST00000427044.2 0.041667 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 134157349 134157349 __UNKNOWN__ IGR SNP A A G rs13066038 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:134157349A>G NA NA MIR4788 (601 upstream) : ANAPC13 (39198 downstream) NA NA NA AAGGCATTTAAAGATGTTTCT 0.318 NA A||| 1071 0.213858 0.2905 0.2305 5008 , , NA 17296 0.0972 NA 0.3161 False NA ,,, NA NA NA 2504 0.1135 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.134157349A>G NA hg19 0.02 9.733985 TTAxAGA COVERED NOVEL 0 2 11.37109 KEEP 0 1 38 51 1648 AA 1 1 0 9 60 329 0 0 21.18506 196 60 7142 356 0.043902 1 CEP63 80254 __UNKNOWN__ __UNKNOWN__ 3 134225969 134225969 __UNKNOWN__ Silent SNP T T C rs9827878 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:134225969T>C ENST00000337090.3 + 3 236 c.63T>C c.(61-63)tgT>tgC p.C21C CEP63_ENST00000332047.5_Silent_p.C21C|CEP63_ENST00000606977.1_Silent_p.C21C|CEP63_ENST00000354446.3_Silent_p.C21C|CEP63_ENST00000513612.2_Silent_p.C21C|CEP63_ENST00000504013.1_3'UTR|CEP63_ENST00000383229.3_Silent_p.C21C Q96MT8 CEP63_HUMAN centrosomal protein 63kDa 21 NA centriole replication (GO:0007099)|DNA damage checkpoint (GO:0000077)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|signal transduction in response to DNA damage (GO:0042770)|spindle assembly (GO:0051225) centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|spindle pole (GO:0000922) kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 TGACATCTTGTGAAGCAGAAC 0.348 NA T||| 861 0.171925 0.1415 0.1153 5008 , , NA 14824 0.2183 NA 0.17 False NA ,,, NA NA NA 2504 0.2076 NA NA NA NA 0 T ,,, 551,3855 246.8+/-255.3 34,483,1686 97 98 98 63,63,63,63 4.5 1 3 dbSNP_119 98 1342,7258 262.3+/-284.3 108,1126,3066 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous CEP63 NM_001042383.1,NM_001042384.1,NM_001042400.1,NM_025180.3 ,,, 142,1609,4752 CC,CT,TT 15.6047,12.5057,14.5548 ,,, 21/496,21/476,21/542,21/704 134225969 1893,11113 2203 4300 6503 SO:0001819 synonymous_variant AK056465 CCDS3086.1, CCDS43152.1, CCDS43153.1, CCDS43154.1 3q22.1 2014-02-20 ENSG00000182923 ENSG00000182923 80254 25815 protein-coding gene gene with protein product 614724 NA 14654843, 24240477 Standard NM_025180 NM_001042383 NA Approved FLJ13386 uc003eqo.1 Q96MT8 OTTHUMG00000159725 ENST00000337090.3:c.63T>C chr3.hg19:g.134225969T>C NA D3DND8|D3DND9|D3DNE0|Q96CR0|Q9H8F5|Q9H8N0 hg19 CCDS3086.1 0.02 13.57517 TTGxGAA COVERED NOVEL CEP63-201 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000470139.1 2 15.947218 KEEP 0 0 0 53 1652 TT 1 1 0 + 12 60 453 0 0 28.727594 313 60 11233 446 ENST00000337090.3 0.036923 1 EPHB1 2047 __UNKNOWN__ __UNKNOWN__ 3 134825512 134825512 __UNKNOWN__ Intron SNP G G C rs3732567 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:134825512G>C ENST00000398015.3 + 4 1331 EPHB1_ENST00000488154.1_Intron|EPHB1_ENST00000493838.1_Intron NM_004441.4 NP_004432.1 P54762 EPHB1_HUMAN EPH receptor B1 NA NA angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290) axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121) ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005) NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 130 GGTGGGTCTGGGGCAAGGAAG 0.532 NA G||| 1683 0.336062 0.0303 0.3646 5008 , , NA 19295 0.7728 NA 0.2087 False NA ,,, NA NA NA 2504 0.41 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L40636 CCDS46921.1 3q21-q23 2013-02-11 2004-10-28 ENSG00000154928 2047 EPH receptors, Sterile alpha motif (SAM) domain containing, Fibronectin type III domain containing 3392 protein-coding gene gene with protein product 600600 EphB1 EPHT2 NA 8666391 Standard NM_004441 NM_004441 NA Approved Hek6 uc003eqt.3 P54762 ENST00000398015.3:c.961+67G>C chr3.hg19:g.134825512G>C NA A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87 hg19 CCDS46921.1 0.02 3.836174 CTGxGGC COVERED NOVEL EPHB1-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000357671.1 1 3.595913 KEEP 0 0 0 12 392 GG 0.993634 0.993633 0 + 11 60 330 0 0 21.959584 118 60 4250 151 ENST00000398015.3 0.085271 1 EPHB1 2047 __UNKNOWN__ __UNKNOWN__ 3 134898742 134898742 __UNKNOWN__ Silent SNP C C T rs1042787 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:134898742C>T ENST00000398015.3 + 10 2170 c.1800C>T c.(1798-1800)taC>taT p.Y600Y EPHB1_ENST00000493838.1_Silent_p.Y161Y NM_004441.4 NP_004432.1 P54762 EPHB1_HUMAN EPH receptor B1 600 NA angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290) axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121) ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005) NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 130 CCTTCACTTACGAGGATCCCA 0.488 NA T||| 2694 0.537939 0.5166 0.5 5008 , , NA 22244 0.7282 NA 0.3797 False NA ,,, NA NA NA 2504 0.5603 NA NA NA NA 0 T 1879,2053 457,965,544 217 203 208 1800 -0.7 1 3 dbSNP_107 208 3256,5138 643,1970,1584 yes coding-synonymous EPHB1 NM_004441.4 1100,2935,2128 TT,TC,CC 38.7896,47.7874,41.6599 600/985 134898742 5135,7191 1966 4197 6163 SO:0001819 synonymous_variant L40636 CCDS46921.1 3q21-q23 2013-02-11 2004-10-28 ENSG00000154928 2047 EPH receptors, Sterile alpha motif (SAM) domain containing, Fibronectin type III domain containing 3392 protein-coding gene gene with protein product 600600 EphB1 EPHT2 NA 8666391 Standard NM_004441 NM_004441 NA Approved Hek6 uc003eqt.3 P54762 ENST00000398015.3:c.1800C>T chr3.hg19:g.134898742C>T NA A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87 hg19 CCDS46921.1 0.02 4.168285 TTAxGAG COVERED NOVEL EPHB1-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000357671.1 1 5.417575 KEEP 0 0 0 18 631 CC 0.999859 0.999859 0 + 6 60 225 0 0 14.443745 143 60 5144 197 ENST00000398015.3 0.040268 1 EPHB1 2047 __UNKNOWN__ __UNKNOWN__ 3 134920306 134920306 __UNKNOWN__ Intron SNP C C T rs2270881 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:134920306C>T ENST00000398015.3 + 12 2500 EPHB1_ENST00000493838.1_Intron NM_004441.4 NP_004432.1 P54762 EPHB1_HUMAN EPH receptor B1 NA NA angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290) axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121) ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005) NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 130 CCCTCTATGTCTTATTACAGC 0.522 NA C||| 536 0.107029 0.0295 0.121 5008 , , NA 20576 0.2083 NA 0.0507 False NA ,,, NA NA NA 2504 0.1554 NA NA NA NA 0 C 139,4237 90.2+/-128.9 0,139,2049 145 144 145 3.7 1 3 dbSNP_100 145 433,8165 128.3+/-186.6 5,423,3871 no intron EPHB1 NM_004441.4 5,562,5920 TT,TC,CC 5.0361,3.1764,4.4088 134920306 572,12402 2188 4299 6487 SO:0001627 intron_variant L40636 CCDS46921.1 3q21-q23 2013-02-11 2004-10-28 ENSG00000154928 2047 EPH receptors, Sterile alpha motif (SAM) domain containing, Fibronectin type III domain containing 3392 protein-coding gene gene with protein product 600600 EphB1 EPHT2 NA 8666391 Standard NM_004441 NM_004441 NA Approved Hek6 uc003eqt.3 P54762 ENST00000398015.3:c.2131-10C>T chr3.hg19:g.134920306C>T NA A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87 hg19 CCDS46921.1 0.02 4.405016 TGTxTTA COVERED NOVEL EPHB1-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000357671.1 0 4.814382 KEEP 0 0 0 16 547 CC 0.997832 0.997831 0 + 6 60 228 0 0 15.275431 116 60 4370 158 ENST00000398015.3 0.04918 0.999999 SLC35G2 80723 __UNKNOWN__ __UNKNOWN__ 3 136573289 136573289 __UNKNOWN__ 5'UTR SNP G G A rs9865545 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:136573289G>A ENST00000446465.2 + 0 615 SLC35G2_ENST00000393079.3_5'UTR|RP11-85F14.5_ENST00000470236.1_RNA|RP11-85F14.5_ENST00000474250.1_RNA|RP11-85F14.5_ENST00000461864.1_RNA NM_025246.2 NP_079522.2 solute carrier family 35, member G2 NA NA NA AAATAGAATTGATTATCTGAA 0.274 NA G||| 3516 0.702077 0.5613 0.7651 5008 , , NA 15973 0.8492 NA 0.6551 False NA ,,, NA NA NA 2504 0.7444 NA NA NA NA 0 G ,, 2456,1640 791,874,383 29 32 31 ,, 2.8 0.9 3 dbSNP_119 31 5733,2565 2070,1593,486 no utr-5,utr-5,utr-5 TMEM22 NM_001097599.1,NM_001097600.1,NM_025246.2 ,, 2861,2467,869 AA,AG,GG 30.9111,40.0391,33.9277 ,, ,, 136573289 8189,4205 2048 4149 6197 SO:0001623 5_prime_UTR_variant BC022557 CCDS3091.1 3q22.3 2013-05-22 2012-03-09 2012-03-09 ENSG00000168917 ENSG00000168917 80723 Solute carriers 28480 protein-coding gene gene with protein product transmembrane protein 22 TMEM22 NA 11230166 Standard NM_025246 NM_001097600 NA Approved MGC3295, DKFZp564K2464 uc003erf.4 Q8TBE7 OTTHUMG00000159787 ENST00000446465.2:c.-14G>A chr3.hg19:g.136573289G>A NA hg19 CCDS3091.1 0.02 18.106318 ATTxATT COVERED NOVEL SLC35G2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000357317.1 5 21.670333 KEEP 0 0 0 72 2547 GG 1 1 0 + 28 60 1009 0 0 68.930215 415 60 15832 622 ENST00000446465.2 0.063205 1 SLC35G2 80723 __UNKNOWN__ __UNKNOWN__ 3 136573440 136573440 __UNKNOWN__ Silent SNP A A G rs9827648 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:136573440A>G ENST00000446465.2 + 2 766 c.138A>G c.(136-138)ggA>ggG p.G46G SLC35G2_ENST00000393079.3_Silent_p.G46G|RP11-85F14.5_ENST00000470236.1_RNA|RP11-85F14.5_ENST00000474250.1_RNA|RP11-85F14.5_ENST00000461864.1_RNA NM_025246.2 NP_079522.2 solute carrier family 35, member G2 NA NA NA AAGGCTATGGAAATTTTATGG 0.408 NA A||| 3530 0.704872 0.5711 0.7651 5008 , , NA 15630 0.8502 NA 0.6551 False NA ,,, NA NA NA 2504 0.7444 NA NA NA NA 0 A ,, 2688,1716 619.1+/-393.3 842,1004,356 133 150 144 138,138,138 0.4 1 3 dbSNP_119 144 5995,2605 678.7+/-403.5 2109,1777,414 no coding-synonymous,coding-synonymous,coding-synonymous TMEM22 NM_001097599.1,NM_001097600.1,NM_025246.2 ,, 2951,2781,770 GG,GA,AA 30.2907,38.9646,33.2282 ,, 46/413,46/413,46/413 136573440 8683,4321 2202 4300 6502 SO:0001819 synonymous_variant BC022557 CCDS3091.1 3q22.3 2013-05-22 2012-03-09 2012-03-09 ENSG00000168917 ENSG00000168917 80723 Solute carriers 28480 protein-coding gene gene with protein product transmembrane protein 22 TMEM22 NA 11230166 Standard NM_025246 NM_001097600 NA Approved MGC3295, DKFZp564K2464 uc003erf.4 Q8TBE7 OTTHUMG00000159787 ENST00000446465.2:c.138A>G chr3.hg19:g.136573440A>G NA hg19 CCDS3091.1 0.02 25.160968 TGGxAAT COVERED NOVEL SLC35G2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000357317.1 3 17.686247 KEEP 0 1 38 72 2249 AA 1 1 0 + 40 60 1422 0 0 98.810194 518 60 18656 722 ENST00000446465.2 0.071685 1 SLC35G2 80723 __UNKNOWN__ __UNKNOWN__ 3 136574501 136574501 __UNKNOWN__ Missense_Mutation SNP A A G rs1052618 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:136574501A>G ENST00000446465.2 + 2 1827 c.1199A>G c.(1198-1200)aAg>aGg p.K400R SLC35G2_ENST00000393079.3_Missense_Mutation_p.K400R|RP11-85F14.5_ENST00000470236.1_RNA|RP11-85F14.5_ENST00000474250.1_RNA|RP11-85F14.5_ENST00000461864.1_RNA NM_025246.2 NP_079522.2 solute carrier family 35, member G2 NA NA NA AATTTAAGAAAGCAGGACTAC 0.328 NA G||| 3570 0.712859 0.5983 0.7695 5008 , , NA 16490 0.8502 NA 0.6561 False NA ,,, NA NA NA 2504 0.7444 NA NA NA NA 0 G ARG/LYS,ARG/LYS,ARG/LYS 2763,1643 499.3+/-364.4 883,997,323 81 77 79 1199,1199,1199 5.8 1 3 dbSNP_86 79 5999,2601 411.2+/-350.4 2113,1773,414 yes missense,missense,missense TMEM22 NM_001097599.1,NM_001097600.1,NM_025246.2 26,26,26 2996,2770,737 GG,GA,AA 30.2442,37.2901,32.6311 benign,benign,benign 400/413,400/413,400/413 136574501 8762,4244 2203 4300 6503 SO:0001583 missense BC022557 CCDS3091.1 3q22.3 2013-05-22 2012-03-09 2012-03-09 ENSG00000168917 ENSG00000168917 80723 Solute carriers 28480 protein-coding gene gene with protein product transmembrane protein 22 TMEM22 NA 11230166 Standard NM_025246 NM_001097600 NA Approved MGC3295, DKFZp564K2464 uc003erf.4 Q8TBE7 OTTHUMG00000159787 ENST00000446465.2:c.1199A>G chr3.hg19:g.136574501A>G ENSP00000400839:p.Lys400Arg NA hg19 CCDS3091.1 0.02 9.30265 GAAxGCA COVERED 1567 0.7174908424908425 312 0.6341463414634146 272 0.7513812154696132 490 0.8566433566433567 493 0.6503957783641161 G 4.211 0.037933 0.08148 0.627099 0.697558 ENSG00000168917 ENST00000446465;ENST00000393079 T;T 0.19394 2.15;2.15 5.79 5.79 0.91817 . 0.163209 0.52532 N 0.000070 T 0.00012 0.0000 N 0.01352 -0.895 0.58432 P 4.000000000004E-6 B 0.02656 0.0 B 0.01281 0.0 T 0.35126 -0.9801 9 0.02654 T 1 . 13.8542 0.63515 0.0738:0.0:0.9262:0.0 rs1052618;rs3193066;rs17844823;rs17857533;rs17858651;rs52836718;rs56993848;rs1052618 400 Q8TBE7 TMM22_HUMAN R 400 ENSP00000400839:K400R;ENSP00000376794:K400R ENSP00000376794:K400R K + 2 0 TMEM22 138057191 1.000000 0.71417 1.000000 0.80357 0.940000 0.58332 5.396000 0.66297 1.480000 0.48289 -0.320000 0.08662 AAG NOVEL SLC35G2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000357317.1 4 3.044438 KEEP 0 1 37 23 714 AA 0.999909 0.999909 0 + 22 60 785 0 0 57.855857 200 60 7421 277 ENST00000446465.2 0.099099 1 NCK1 4690 __UNKNOWN__ __UNKNOWN__ 3 136618214 136618214 __UNKNOWN__ Intron SNP G G A rs7645773 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:136618214G>A ENST00000481752.1 + 2 146 NCK1_ENST00000288986.2_Intron P16333 NCK1_HUMAN NCK adaptor protein 1 NA NA actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|negative regulation of cell death (GO:0060548)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of translation (GO:0006417)|response to other organism (GO:0051707)|signal complex assembly (GO:0007172)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852) cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506) cytoskeletal adaptor activity (GO:0008093)|protein kinase inhibitor activity (GO:0004860)|receptor binding (GO:0005102)|receptor signaling complex scaffold activity (GO:0030159)|receptor tyrosine kinase binding (GO:0030971) cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 13 TTGGATTTAGGttccttctct 0.333 NA A||| 3534 0.705671 0.5711 0.7666 5008 , , NA 18020 0.8502 NA 0.6581 False NA ,,, NA NA NA 2504 0.7444 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X17576 CCDS3092.1, CCDS54644.1 3q21 2013-02-14 ENSG00000158092 ENSG00000158092 4690 SH2 domain containing 7664 protein-coding gene gene with protein product 600508 NCK NA 7806213, 9737977 Standard NM_006153 XM_005247498 NA Approved NCKalpha uc003erh.3 P16333 OTTHUMG00000159781 ENST00000481752.1:c.-18-28612G>A chr3.hg19:g.136618214G>A NA B7Z751|D3DNE3 hg19 CCDS3092.1 0.02 2.19657 TAGxTTC COVERED NOVEL NCK1-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000357307.1 2 3.912602 KEEP 0 0 0 13 447 GG 0.994391 0.974032 0 + 7 60 232 0 0 17.444151 48 60 1708 81 ENST00000481752.1 0.127273 0.979526 NCK1 4690 __UNKNOWN__ __UNKNOWN__ 3 136649463 136649463 __UNKNOWN__ Intron SNP C C T rs7648817 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:136649463C>T ENST00000469404.1 + 1 125 NCK1_ENST00000288986.2_Intron|NCK1_ENST00000481752.1_Intron NM_001190796.1 NP_001177725.1 P16333 NCK1_HUMAN NCK adaptor protein 1 NA NA actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|negative regulation of cell death (GO:0060548)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of translation (GO:0006417)|response to other organism (GO:0051707)|signal complex assembly (GO:0007172)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852) cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506) cytoskeletal adaptor activity (GO:0008093)|protein kinase inhibitor activity (GO:0004860)|receptor binding (GO:0005102)|receptor signaling complex scaffold activity (GO:0030159)|receptor tyrosine kinase binding (GO:0030971) cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 13 ATTAAATCCACTGTTTTCTTG 0.279 NA T||| 3574 0.713658 0.5991 0.7709 5008 , , NA 16542 0.8502 NA 0.6581 False NA ,,, NA NA NA 2504 0.7444 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X17576 CCDS3092.1, CCDS54644.1 3q21 2013-02-14 ENSG00000158092 ENSG00000158092 4690 SH2 domain containing 7664 protein-coding gene gene with protein product 600508 NCK NA 7806213, 9737977 Standard NM_006153 XM_005247498 NA Approved NCKalpha uc003erh.3 P16333 OTTHUMG00000159781 ENST00000469404.1:c.34+27C>T chr3.hg19:g.136649463C>T NA B7Z751|D3DNE3 hg19 CCDS54644.1 0.02 6.613996 CCAxTGT COVERED NOVEL NCK1-002 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000357287.1 3 5.989766 KEEP 0 2 66 43 1493 CC 1 1 0 + 16 60 552 0 0 39.1739 172 60 6517 245 ENST00000469404.1 0.085106 1 NCK1 4690 __UNKNOWN__ __UNKNOWN__ 3 136668625 136668625 __UNKNOWN__ 3'UTR SNP T T C rs856662 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:136668625T>C ENST00000469404.1 + 0 2363 IL20RB_ENST00000484501.1_Intron NM_001190796.1 NP_001177725.1 P16333 NCK1_HUMAN NCK adaptor protein 1 NA NA actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|negative regulation of cell death (GO:0060548)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of translation (GO:0006417)|response to other organism (GO:0051707)|signal complex assembly (GO:0007172)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852) cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506) cytoskeletal adaptor activity (GO:0008093)|protein kinase inhibitor activity (GO:0004860)|receptor binding (GO:0005102)|receptor signaling complex scaffold activity (GO:0030159)|receptor tyrosine kinase binding (GO:0030971) cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 13 CTGTTATAAATAGATATCTAA 0.279 NA C||| 3534 0.705671 0.5711 0.7666 5008 , , NA 15666 0.8502 NA 0.6581 False NA ,,, NA NA NA 2504 0.7444 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X17576 CCDS3092.1, CCDS54644.1 3q21 2013-02-14 ENSG00000158092 ENSG00000158092 4690 SH2 domain containing 7664 protein-coding gene gene with protein product 600508 NCK NA 7806213, 9737977 Standard NM_006153 XM_005247498 NA Approved NCKalpha uc003erh.3 P16333 OTTHUMG00000159781 ENST00000469404.1:c.*1330T>C chr3.hg19:g.136668625T>C NA B7Z751|D3DNE3 hg19 CCDS54644.1 0.02 4.764063 AAAxAGA COVERED NOVEL NCK1-002 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000357287.1 1 9.026442 KEEP 0 0 0 30 934 TT 0.999997 0.999997 0 + 12 60 466 0 0 34.622083 126 60 4595 210 ENST00000469404.1 0.086957 1 IL20RB 53833 __UNKNOWN__ __UNKNOWN__ 3 136676702 136676702 __UNKNOWN__ Intron SNP T T C rs55871480 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:136676702T>C ENST00000484501.1 + 2 66 Q6UXL0 I20RB_HUMAN interleukin 20 receptor beta NA NA homeostasis of number of cells within a tissue (GO:0048873)|immune response-inhibiting signal transduction (GO:0002765)|inflammatory response to antigenic stimulus (GO:0002437)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of type IV hypersensitivity (GO:0001808)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-4 production (GO:0032753) integral component of membrane (GO:0016021) kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 ATTCTCAAGCTCCCCAAAGTT 0.532 NA T||| 765 0.152756 0.0938 0.1369 5008 , , NA 16864 0.2183 NA 0.1332 False NA ,,, NA NA NA 2504 0.1963 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC033292 CCDS3093.1 3q22.3 2013-02-11 ENSG00000174564 ENSG00000174564 53833 Interleukins and interleukin receptors, Fibronectin type III domain containing 6004 protein-coding gene gene with protein product 605621 fibronectin type III domain containing 6 FNDC6 NA 11163236, 16703417 Standard NM_144717 NM_144717 NA Approved DIRS1, IL-20R2, MGC34923 uc003eri.2 Q6UXL0 OTTHUMG00000159779 ENST00000484501.1:c.67-35T>C chr3.hg19:g.136676702T>C NA B4DL40|Q6P438|Q8IYY5|Q8TAJ7 hg19 0.02 9.498549 AGCxCCC COVERED NOVEL IL20RB-006 KNOWN basic processed_transcript NA protein_coding OTTHUMT00000357285.1 2 10.866779 KEEP 0 1 31 47 1480 TT 1 1 0 + 12 60 437 0 0 28.884671 222 60 8130 361 ENST00000484501.1 0.051282 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 136739406 136739406 __UNKNOWN__ IGR SNP C C G rs1385306 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:136739406C>G NA NA IL20RB (9479 upstream) : RNA5SP142 (497569 downstream) NA NA NA TGCAAACAAACGAGAACAGAT 0.483 NA G||| 3376 0.674121 0.5734 0.7219 5008 , , NA 15600 0.9058 NA 0.6183 False NA ,,, NA NA NA 2504 0.5951 NA NA NA NA 0 G 1004,748 293,418,165 38 34 35 -0.3 0 3 dbSNP_88 35 2344,1638 697,950,344 no intergenic 990,1368,509 GG,GC,CC 41.1351,42.6941,41.6114 136739406 3348,2386 876 1991 2867 SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.136739406C>G NA hg19 0.02 9.623796 AAAxGAG COVERED NOVEL 0 0 10.771176 KEEP 0 1 35 48 1710 CC 1 1 0 18 60 682 0 0 49.341473 213 60 7690 357 0.077922 1 DBR1 51163 __UNKNOWN__ __UNKNOWN__ 3 137890531 137890531 __UNKNOWN__ Missense_Mutation SNP C C T rs191578745 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:137890531C>T ENST00000260803.4 - 3 500 c.347G>A c.(346-348)cGa>cAa p.R116Q DBR1_ENST00000505015.2_5'UTR|DBR1_ENST00000463982.2_5'UTR NM_016216.3 NP_057300.2 Q9UK59 DBR1_HUMAN debranching RNA lariats 1 116 NA mRNA splicing, via spliceosome (GO:0000398)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|RNA splicing, via transesterification reactions (GO:0000375) nucleus (GO:0005634) metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA lariat debranching enzyme activity (GO:0008419) NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1) 15 CCTTACACCTCGGTATTTTAC 0.348 NA C||| 13 0.00259585 0.0 0.0 5008 , , NA 15868 0.0119 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 89 90 89 NA NA 3 NA 137890531 2203 4300 6503 SO:0001583 missense AF180919 CCDS33863.1 3q22.3 2013-05-01 2013-05-01 ENSG00000138231 ENSG00000138231 51163 15594 protein-coding gene gene with protein product 607024 debranching enzyme (S. Cerevisiae) homolog 1, debranching enzyme homolog 1 (S. cerevisiae) NA 10982890 Standard NM_016216 NA Approved uc003erv.3 Q9UK59 OTTHUMG00000159824 ENST00000260803.4:c.347G>A chr3.hg19:g.137890531C>T ENSP00000260803:p.Arg116Gln NA Q96GH0|Q9NXQ6 hg19 CCDS33863.1 0.02 1.610992 CCTxGGT COVERED 5 0.0022893772893772895 0 0.0 0 0.0 5 0.008741258741258742 0 0.0 C 17.07 3.294101 0.60086 . . ENSG00000138231 ENST00000260803 T 0.31247 1.5 5.77 4.9 0.64082 Metallophosphoesterase domain (1); 0.063428 0.64402 D 0.000008 T 0.14056 0.0340 N 0.21448 0.665 0.80722 D 1 P 0.42456 0.78 B 0.36666 0.23 T 0.02654 -1.1128 10 0.30078 T 0.28 -13.4936 12.5779 0.56373 0.0:0.9202:0.0:0.0798 . 116 Q9UK59 DBR1_HUMAN Q 116 ENSP00000260803:R116Q ENSP00000260803:R116Q R - 2 0 DBR1 139373221 1.000000 0.71417 0.998000 0.56505 0.930000 0.56654 5.465000 0.66725 1.453000 0.47775 -0.136000 0.14681 CGA NOVEL DBR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000357585.1 0 8.125165 KEEP 0 0 0 27 890 CC 0.999988 0.99995 0 - 4 60 142 0 0 8.818722 96 60 3462 158 ENST00000260803.4 0.04 0.999962 CEP70 80321 __UNKNOWN__ __UNKNOWN__ 3 138219560 138219560 __UNKNOWN__ Intron SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:138219560G>A ENST00000264982.3 - 14 1635 CEP70_ENST00000481834.1_Intron|CEP70_ENST00000542237.1_Intron|CEP70_ENST00000489254.1_Intron|CEP70_ENST00000484888.1_Intron NM_024491.2 NP_077817.2 Q8NHQ1 CEP70_HUMAN centrosomal protein 70kDa NA NA G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278) centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3) 24 GAAGGTGACCGTTCATGTAGG 0.294 NA NA NA NA NA NA NA NA NA NA NA 0 105 115 111 NA NA 3 NA 138219560 2203 4298 6501 SO:0001627 intron_variant AF202146 CCDS3102.1, CCDS75022.1, CCDS75023.1, CCDS75024.1 3q22.3 2014-02-20 ENSG00000114107 ENSG00000114107 80321 29972 protein-coding gene gene with protein product 614310 NA 14654843 Standard NM_024491 XM_005247802 NA Approved BITE, FLJ13036 uc003esl.3 Q8NHQ1 OTTHUMG00000159891 ENST00000264982.3:c.1368+16C>T chr3.hg19:g.138219560G>A NA B7Z5I8|B7Z7E8|D3DNE9|F5GZX8|Q96B31|Q9H2C3|Q9H2Z1|Q9H940 hg19 CCDS3102.1 0.02 2.00683 ACCxTTC COVERED NOVEL CEP70-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000358001.1 1 4.213396 KEEP 0 0 0 14 474 GG 0.995343 0.995148 0 - 4 60 150 0 0 9.823873 85 60 2912 121 ENST00000264982.3 0.044944 0.999804 PRR23C 389152 __UNKNOWN__ __UNKNOWN__ 3 138761940 138761940 __UNKNOWN__ 3'UTR SNP C C G rs12637621 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:138761940C>G ENST00000413199.1 - 0 1794 MRPS22_ENST00000495075.1_Intron|PRR23C_ENST00000502927.2_3'UTR NM_001134657.1 NP_001128129.1 Q6ZRP0 PR23C_HUMAN proline rich 23C NA NA breast(2)|lung(7)|skin(2) 11 cacacaGAGTCTTAGAATTAT 0.358 NA C||| 662 0.132188 0.0734 0.2133 5008 , , NA 17921 0.2728 NA 0.0149 False NA ,,, NA NA NA 2504 0.1299 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS46924.1 3q22.3 2014-06-03 ENSG00000233701 389152 37173 protein-coding gene gene with protein product NA Standard NM_001134657 NM_001134657 NA Approved FLJ46210 uc011bmt.1 Q6ZRP0 ENST00000413199.1:c.*734G>C chr3.hg19:g.138761940C>G NA hg19 CCDS46924.1 0.02 -0.306869 AGTxTTA COVERED NOVEL PRR23C-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000361502.1 3 2.407552 KEEP 0 0 0 8 267 CC 0.99257 0.7943 0 - 14 60 529 0 0 49.355939 21 60 778 50 ENST00000413199.1 0.4 0.800245 PRR23C 389152 __UNKNOWN__ __UNKNOWN__ 3 138761946 138761946 __UNKNOWN__ 3'UTR SNP A A G rs12632179 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:138761946A>G ENST00000413199.1 - 0 1788 MRPS22_ENST00000495075.1_Intron|PRR23C_ENST00000502927.2_3'UTR NM_001134657.1 NP_001128129.1 Q6ZRP0 PR23C_HUMAN proline rich 23C NA NA breast(2)|lung(7)|skin(2) 11 GAGTCTTAGAATTATAAGCTT 0.368 NA A||| 630 0.125799 0.0794 0.2161 5008 , , NA 17787 0.2639 NA 0.0845 False NA ,,, NA NA NA 2504 0.0245 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS46924.1 3q22.3 2014-06-03 ENSG00000233701 389152 37173 protein-coding gene gene with protein product NA Standard NM_001134657 NM_001134657 NA Approved FLJ46210 uc011bmt.1 Q6ZRP0 ENST00000413199.1:c.*728T>C chr3.hg19:g.138761946A>G NA hg19 CCDS46924.1 0.02 -0.32459 AGAxTTA COVERED NOVEL PRR23C-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000361502.1 3 2.406775 KEEP 0 0 0 8 245 AA 0.99257 0.829507 0 - 14 60 527 0 0 48.720322 23 60 846 53 ENST00000413199.1 0.378378 0.835716 MRPS22 56945 __UNKNOWN__ __UNKNOWN__ 3 138882086 138882086 __UNKNOWN__ Intron SNP G G A rs13097893 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:138882086G>A ENST00000495075.1 + 2 290 P82650 RT22_HUMAN mitochondrial ribosomal protein S22 NA NA mitochondrial ribosome (GO:0005761)|mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739) structural constituent of ribosome (GO:0003735) breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 12 CAGTCTTCCCGGTGAATGGCA 0.512 NA g||| 1358 0.271166 0.1634 0.2061 5008 , , NA 18601 0.4087 NA 0.3082 False NA ,,, NA NA NA 2504 0.2832 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF226045 CCDS3107.1 3q23 2012-09-13 ENSG00000175110 ENSG00000175110 56945 Mitochondrial ribosomal proteins / small subunits 14508 protein-coding gene gene with protein product 605810 NA 11175783 Standard NM_020191 NM_020191 NA Approved MRP-S22, GK002, C3orf5, GIBT uc003etb.3 P82650 OTTHUMG00000159910 ENST00000495075.1:c.-142-17046G>A chr3.hg19:g.138882086G>A NA Q9H3I1 hg19 CCDS3107.1 0.02 6.542729 CCCxGTG COVERED NOVEL MRPS22-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000358120.1 1 3.595807 KEEP 0 0 0 12 378 GG 0.993634 0.993634 0 + 7 60 225 0 0 13.405137 155 60 5569 181 ENST00000495075.1 0.04321 1 MRPS22 56945 __UNKNOWN__ __UNKNOWN__ 3 139069693 139069693 __UNKNOWN__ Intron SNP C C A rs17316181 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:139069693C>A ENST00000478464.1 + 5 630 MRPS22_ENST00000495075.1_Intron|MRPS22_ENST00000465056.1_Intron|MRPS22_ENST00000310776.4_Intron P82650 RT22_HUMAN mitochondrial ribosomal protein S22 NA NA mitochondrial ribosome (GO:0005761)|mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739) structural constituent of ribosome (GO:0003735) breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 12 agcctgtgttctttctttatg 0.463 NA A||| 301 0.0601038 0.062 0.0447 5008 , , NA 18682 0.0317 NA 0.0795 False NA ,,, NA NA NA 2504 0.0777 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF226045 CCDS3107.1 3q23 2012-09-13 ENSG00000175110 ENSG00000175110 56945 Mitochondrial ribosomal proteins / small subunits 14508 protein-coding gene gene with protein product 605810 NA 11175783 Standard NM_020191 NM_020191 NA Approved MRP-S22, GK002, C3orf5, GIBT uc003etb.3 P82650 OTTHUMG00000159910 ENST00000478464.1:c.526-126C>A chr3.hg19:g.139069693C>A NA Q9H3I1 hg19 0.02 2.1175 GTTxTTT COVERED NOVEL MRPS22-007 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000358126.1 1 2.708622 KEEP 0 0 0 9 301 CC 0.99254 0.98629 0 + 4 60 146 0 0 9.98428 61 60 2272 77 ENST00000478464.1 0.061538 0.993703 RBP1 5947 __UNKNOWN__ __UNKNOWN__ 3 139257603 139257603 __UNKNOWN__ Intron SNP A A G rs2071387 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:139257603A>G ENST00000483943.2 - 2 439 RBP1_ENST00000492918.1_Intron|RP11-319G6.1_ENST00000515247.1_RNA|RBP1_ENST00000232219.2_Intron NM_001130993.1 NP_001124465.1 P09455 RET1_HUMAN retinol binding protein 1, cellular NA NA phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|vitamin A metabolic process (GO:0006776) cytosol (GO:0005829) retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|transporter activity (GO:0005215) endometrium(1)|large_intestine(2)|lung(1)|prostate(1) 5 Acitretin(DB00459)|Vitamin A(DB00162) AGGAGACACCAGGTGGACGCG 0.577 NA G||| 1455 0.290535 0.4652 0.3703 5008 , , NA 19141 0.2153 NA 0.1909 False NA ,,, NA NA NA 2504 0.1779 NA NA NA NA 0 G ,, 1919,2487 624.8+/-394.4 424,1071,708 147 118 128 ,, -5.4 0 3 dbSNP_96 128 1584,7016 744.0+/-407.2 150,1284,2866 no intron,intron,intron RBP1 NM_001130992.1,NM_001130993.1,NM_002899.3 ,, 574,2355,3574 GG,GA,AA 18.4186,43.5542,26.9337 ,, ,, 139257603 3503,9503 2203 4300 6503 SO:0001627 intron_variant CCDS3110.2, CCDS46925.1, CCDS46926.1 3q21-q23 2013-03-01 2001-11-28 ENSG00000114115 ENSG00000114115 5947 Fatty acid binding protein family 9919 protein-coding gene gene with protein product 180260 retinol-binding protein 1, cellular NA 1654334, 9858824 Standard NM_002899 NM_002899 NA Approved CRABP-I, CRBP1, CRBP, RBPC, CRBPI uc003eti.2 P09455 OTTHUMG00000155751 ENST00000483943.2:c.438+19T>C chr3.hg19:g.139257603A>G NA A8K2Q0|B7Z7A0|E7EWV0|F2Z2F2|Q6FGX8 hg19 CCDS46925.1 0.02 6.798697 ACCxGGT COVERED NOVEL RBP1-003 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000341497.2 1 30.377804 KEEP 0 0 0 101 3128 AA 1 1 0 - 8 60 284 0 0 18.278242 159 60 5838 327 ENST00000483943.2 0.047904 1 CLSTN2 64084 __UNKNOWN__ __UNKNOWN__ 3 140286285 140286285 __UNKNOWN__ 3'UTR SNP A A T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:140286285A>T ENST00000458420.3 + 0 4248 NM_022131.2 NP_071414.2 Q9H4D0 CSTN2_HUMAN calsyntenin 2 NA NA homophilic cell adhesion (GO:0007156) endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211) calcium ion binding (GO:0005509) NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 TGCTCATAAAAGGAGGAACAC 0.348 NA HNSCC(16;0.037) NA NA NA NA NA NA NA NA NA GBM(45;858 913 3709 36904 37282) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ278018 CCDS3112.1 3q23 2011-07-01 ENSG00000158258 ENSG00000158258 64084 Cadherins / Cadherin-related 17448 protein-coding gene gene with protein product cadherin-related family member 13 611323 NA 12498782 Standard NM_022131 NM_022131 NA Approved CSTN2, CS2, FLJ39113, CDHR13 uc003etn.3 Q9H4D0 OTTHUMG00000160139 ENST00000458420.3:c.*1190A>T chr3.hg19:g.140286285A>T NA B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0 hg19 CCDS3112.1 0.02 10.811404 AAAxGGA COVERED NOVEL CLSTN2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000359393.3 1 11.736263 KEEP 0 0 0 39 1257 AA 1 1 0 + 12 60 449 0 0 29.637184 242 60 8892 333 ENST00000458420.3 0.047244 1 SLC25A36 55186 __UNKNOWN__ __UNKNOWN__ 3 140675506 140675506 __UNKNOWN__ Missense_Mutation SNP T T C rs185691977 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:140675506T>C ENST00000324194.6 + 2 347 c.179T>C c.(178-180)gTg>gCg p.V60A SLC25A36_ENST00000507429.1_Missense_Mutation_p.V60A|SLC25A36_ENST00000393015.4_3'UTR|SLC25A36_ENST00000453248.2_Missense_Mutation_p.V60A|SLC25A36_ENST00000446041.2_Missense_Mutation_p.V60A Q96CQ1 S2536_HUMAN solute carrier family 25 (pyrimidine nucleotide carrier ), member 36 60 NA response to estradiol (GO:0032355)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743) endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 6 AACCGAGTAGTGTCTCCCGGA 0.423 NA T||| 15 0.00299521 0.0 0.0 5008 , , NA 16512 0.0149 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 139 135 136 NA NA 3 NA 140675506 2203 4300 6503 SO:0001583 missense AK001480 CCDS3114.1, CCDS46927.1 3q23 2013-05-22 2012-03-29 ENSG00000114120 ENSG00000114120 55186 Solute carriers 25554 protein-coding gene gene with protein product solute carrier family 25, member 36 NA Standard NM_018155 NM_001104647 NA Approved FLJ10618, PNC2 uc003etr.2 Q96CQ1 OTTHUMG00000160260 ENST00000324194.6:c.179T>C chr3.hg19:g.140675506T>C ENSP00000320688:p.Val60Ala NA A8MYF7|Q05CY1|Q9H0G8|Q9NVN5 hg19 CCDS46927.1 0.02 20.091836 TAGxGTC COVERED 10 0.004578754578754579 0 0.0 0 0.0 10 0.017482517482517484 0 0.0 T 15.07 2.722778 0.48728 . . ENSG00000114120 ENST00000446041;ENST00000507429;ENST00000324194;ENST00000453248;ENST00000513887 T;T;T;T 0.78481 -1.18;-1.18;-1.18;-1.06 5.29 5.29 0.74685 Mitochondrial carrier domain (2); 0.174256 0.49305 D 0.000143 T 0.39226 0.1070 N 0.05414 -0.055 0.37352 D 0.910841 B;B;B;B 0.06786 0.0;0.0;0.0;0.001 B;B;B;B 0.10450 0.005;0.003;0.001;0.003 T 0.52563 -0.8559 10 0.02654 T 1 -30.8027 13.4611 0.61227 0.0:0.0:0.0:1.0 . 60;60;60;60 B4DL01;Q96CQ1-3;Q96CQ1;F6SDC8 .;.;S2536_HUMAN;. A 60;60;60;60;10 ENSP00000401938:V60A;ENSP00000421470:V60A;ENSP00000320688:V60A;ENSP00000391521:V60A ENSP00000320688:V60A V + 2 0 SLC25A36 142158196 1.000000 0.71417 0.994000 0.49952 0.972000 0.66771 5.708000 0.68377 2.131000 0.65755 0.528000 0.53228 GTG NOVEL SLC25A36-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000359929.1 1 28.887454 KEEP 0 0 0 96 3023 TT 1 1 0 + 15 60 529 0 0 31.451924 441 60 16094 687 ENST00000324194.6 0.032895 1 ACPL2 0 __UNKNOWN__ __UNKNOWN__ 3 140978921 140978921 __UNKNOWN__ Intron SNP C C T rs3796259 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:140978921C>T ENST00000286353.4 + 2 84 ACPL2_ENST00000502783.1_Intron|ACPL2_ENST00000393010.2_Intron NM_001037172.1|NM_001282728.1 NP_001032249.1|NP_001269657.1 Q8TE99 PXYP1_HUMAN NA NA extracellular region (GO:0005576) acid phosphatase activity (GO:0003993) endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2) 23 AAATTTAGTTCTCCACCTCTA 0.398 NA T||| 2440 0.48722 0.8623 0.3991 5008 , , NA 21352 0.4653 NA 0.2286 False NA ,,, NA NA NA 2504 0.3313 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000286353.4:c.-53-44C>T chr3.hg19:g.140978921C>T NA D3DNF5|Q49AJ2|W0TR04 hg19 CCDS3116.1 0.02 13.699407 GTTxTCC COVERED NOVEL ACPL2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000359533.2 1 17.45664 KEEP 0 0 0 58 2059 CC 1 1 0 + 24 60 888 0 0 62.458883 320 60 12162 514 ENST00000286353.4 0.069767 1 ACPL2 0 __UNKNOWN__ __UNKNOWN__ 3 140979115 140979115 __UNKNOWN__ Intron SNP C C A rs3796260 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:140979115C>A ENST00000286353.4 + 2 216 ACPL2_ENST00000502783.1_Intron|ACPL2_ENST00000393010.2_Intron NM_001037172.1|NM_001282728.1 NP_001032249.1|NP_001269657.1 Q8TE99 PXYP1_HUMAN NA NA extracellular region (GO:0005576) acid phosphatase activity (GO:0003993) endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2) 23 AGCCGGGCCCCGCAGGTCGTG 0.537 NA C||| 415 0.0828674 0.0893 0.0735 5008 , , NA 17237 0.2073 NA 0.0099 False NA ,,, NA NA NA 2504 0.0276 NA NA NA NA 0 C , 367,4039 170.1+/-200.6 9,349,1845 30 35 33 , -4.4 0 3 dbSNP_107 33 61,8539 34.8+/-89.0 0,61,4239 no intron,intron ACPL2 NM_001037172.1,NM_152282.3 , 9,410,6084 AA,AC,CC 0.7093,8.3296,3.2908 , , 140979115 428,12578 2203 4300 6503 SO:0001627 intron_variant NA NA NA NA ENST00000286353.4:c.79+19C>A chr3.hg19:g.140979115C>A NA D3DNF5|Q49AJ2|W0TR04 hg19 CCDS3116.1 0.02 4.53468 CCCxGCA COVERED NOVEL ACPL2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000359533.2 0 7.2225 KEEP 0 0 0 24 786 CC 0.999909 0.999909 0 + 11 60 410 0 0 29.884952 119 60 3945 170 ENST00000286353.4 0.084615 1 ACPL2 0 __UNKNOWN__ __UNKNOWN__ 3 140991687 140991687 __UNKNOWN__ 5'UTR SNP G G A rs28480447 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:140991687G>A ENST00000508812.1 + 0 181 ACPL2_ENST00000502783.1_Intron|ACPL2_ENST00000504264.1_Intron|ACPL2_ENST00000393010.2_Intron|RP11-438D8.2_ENST00000507698.1_RNA|ACPL2_ENST00000286353.4_Intron Q8TE99 PXYP1_HUMAN NA NA extracellular region (GO:0005576) acid phosphatase activity (GO:0003993) endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2) 23 cacccagattgagggtgggtc 0.473 NA A||| 1223 0.244209 0.4955 0.1758 5008 , , NA 19160 0.1954 NA 0.1372 False NA ,,, NA NA NA 2504 0.1135 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant NA NA NA NA ENST00000508812.1:c.-1727G>A chr3.hg19:g.140991687G>A NA D3DNF5|Q49AJ2|W0TR04 hg19 0.02 -0.38602 ATTxAGG COVERED NOVEL ACPL2-005 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000359537.1 1 3.009567 KEEP 0 0 0 10 339 GG 0.992708 0.911475 0 + 3 60 111 0 0 7.776049 41 60 1535 56 ENST00000508812.1 0.068182 0.918171 ACPL2 0 __UNKNOWN__ __UNKNOWN__ 3 140991909 140991909 __UNKNOWN__ 5'UTR SNP G G T rs28671450 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:140991909G>T ENST00000508812.1 + 0 403 ACPL2_ENST00000502783.1_Intron|ACPL2_ENST00000504264.1_Intron|ACPL2_ENST00000393010.2_Intron|RP11-438D8.2_ENST00000507698.1_RNA|ACPL2_ENST00000286353.4_Intron Q8TE99 PXYP1_HUMAN NA NA extracellular region (GO:0005576) acid phosphatase activity (GO:0003993) endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2) 23 ACCAGTGAGTGCAGGGGGCCC 0.483 NA G||| 1224 0.244409 0.4947 0.1787 5008 , , NA 20176 0.1935 NA 0.1392 False NA ,,, NA NA NA 2504 0.1135 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant NA NA NA NA ENST00000508812.1:c.-1505G>T chr3.hg19:g.140991909G>T NA D3DNF5|Q49AJ2|W0TR04 hg19 0.02 9.080189 AGTxCAG COVERED NOVEL ACPL2-005 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000359537.1 0 17.244313 KEEP 0 1 7 60 2125 GG 1 1 0 + 18 60 627 0 0 43.682477 218 60 8171 366 ENST00000508812.1 0.076271 1 ACPL2 0 __UNKNOWN__ __UNKNOWN__ 3 140992260 140992260 __UNKNOWN__ 5'UTR SNP G G A rs4683591 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:140992260G>A ENST00000508812.1 + 0 754 ACPL2_ENST00000502783.1_Intron|ACPL2_ENST00000504264.1_Intron|ACPL2_ENST00000393010.2_Intron|RP11-438D8.2_ENST00000507698.1_RNA|ACPL2_ENST00000286353.4_Intron Q8TE99 PXYP1_HUMAN NA NA extracellular region (GO:0005576) acid phosphatase activity (GO:0003993) endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2) 23 GCAGAGAGAGGATCAGTTTGG 0.483 NA G||| 1224 0.244409 0.4947 0.1787 5008 , , NA 19195 0.1935 NA 0.1392 False NA ,,, NA NA NA 2504 0.1135 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant NA NA NA NA ENST00000508812.1:c.-1154G>A chr3.hg19:g.140992260G>A NA D3DNF5|Q49AJ2|W0TR04 hg19 0.02 10.306295 GAGxATC COVERED NOVEL ACPL2-005 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000359537.1 1 17.154807 KEEP 0 0 0 57 1951 GG 1 1 0 + 19 60 666 0 0 45.248075 270 60 9876 413 ENST00000508812.1 0.065744 1 ACPL2 0 __UNKNOWN__ __UNKNOWN__ 3 140992472 140992472 __UNKNOWN__ 5'UTR SNP T T C rs78999971 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:140992472T>C ENST00000508812.1 + 0 966 ACPL2_ENST00000502783.1_Intron|ACPL2_ENST00000504264.1_Intron|ACPL2_ENST00000393010.2_Intron|RP11-438D8.2_ENST00000507698.1_RNA|ACPL2_ENST00000286353.4_Intron Q8TE99 PXYP1_HUMAN NA NA extracellular region (GO:0005576) acid phosphatase activity (GO:0003993) endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2) 23 TTAGAGGTCATGTTCTCTGCC 0.433 NA T||| 189 0.0377396 0.0068 0.0648 5008 , , NA 20218 0.1062 NA 0.003 False NA ,,, NA NA NA 2504 0.0256 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant NA NA NA NA ENST00000508812.1:c.-942T>C chr3.hg19:g.140992472T>C NA D3DNF5|Q49AJ2|W0TR04 hg19 0.02 6.504038 TCAxGTT COVERED NOVEL ACPL2-005 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000359537.1 5 8.423627 KEEP 0 0 0 28 854 TT 0.999997 0.999997 0 + 13 60 447 0 0 31.527076 142 60 5236 209 ENST00000508812.1 0.083871 1 ACPL2 0 __UNKNOWN__ __UNKNOWN__ 3 140993544 140993544 __UNKNOWN__ Intron SNP G G A rs57231754 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:140993544G>A ENST00000508812.1 + 1 1959 ACPL2_ENST00000502783.1_Intron|ACPL2_ENST00000504264.1_Intron|ACPL2_ENST00000393007.1_Intron|ACPL2_ENST00000393010.2_Intron|RP11-438D8.2_ENST00000507698.1_RNA|ACPL2_ENST00000286353.4_Intron Q8TE99 PXYP1_HUMAN NA NA extracellular region (GO:0005576) acid phosphatase activity (GO:0003993) endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2) 23 ccctctggatgtttgggatgg 0.527 NA G||| 1114 0.222444 0.3797 0.1599 5008 , , NA 20560 0.1964 NA 0.0716 False NA ,,, NA NA NA 2504 0.2362 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000508812.1:c.52+79G>A chr3.hg19:g.140993544G>A NA D3DNF5|Q49AJ2|W0TR04 hg19 0.02 4.437205 GATxTTT COVERED NOVEL ACPL2-005 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000359537.1 3 12.039197 KEEP 0 0 0 40 1420 GG 1 0.999989 0 + 8 60 286 0 0 20.070897 99 60 3783 192 ENST00000508812.1 0.074766 0.999989 ACPL2 0 __UNKNOWN__ __UNKNOWN__ 3 141012435 141012435 __UNKNOWN__ 3'UTR SNP G G A rs56047678 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:141012435G>A ENST00000508812.1 + 0 3711 ACPL2_ENST00000502783.1_3'UTR|ACPL2_ENST00000393007.1_3'UTR|ACPL2_ENST00000393010.2_3'UTR|RP11-438D8.2_ENST00000507698.1_RNA|ACPL2_ENST00000286353.4_3'UTR Q8TE99 PXYP1_HUMAN NA NA extracellular region (GO:0005576) acid phosphatase activity (GO:0003993) endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2) 23 TTTTTACCTTGTCCTTGTTAA 0.368 NA G||| 363 0.072484 0.0106 0.0937 5008 , , NA 19561 0.0377 NA 0.1829 False NA ,,, NA NA NA 2504 0.0634 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant NA NA NA NA ENST00000508812.1:c.*388G>A chr3.hg19:g.141012435G>A NA D3DNF5|Q49AJ2|W0TR04 hg19 0.02 9.108343 CTTxTCC COVERED NOVEL ACPL2-005 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000359537.1 1 22.945339 KEEP 0 2 65 99 3549 GG 1 1 0 + 12 60 448 0 0 30.554828 198 60 7358 380 ENST00000508812.1 0.057143 1 ACPL2 0 __UNKNOWN__ __UNKNOWN__ 3 141013090 141013090 __UNKNOWN__ 3'UTR SNP G G C rs16851325 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:141013090G>C ENST00000286353.4 + 0 2623 ACPL2_ENST00000393007.1_3'UTR|ACPL2_ENST00000393010.2_3'UTR|RP11-438D8.2_ENST00000507698.1_RNA NM_001037172.1|NM_001282728.1 NP_001032249.1|NP_001269657.1 Q8TE99 PXYP1_HUMAN NA NA extracellular region (GO:0005576) acid phosphatase activity (GO:0003993) endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2) 23 GTACCTGCTTGGTGGTTAGAA 0.333 NA G||| 453 0.0904553 0.264 0.0562 5008 , , NA 18260 0.0585 NA 0.0 False NA ,,, NA NA NA 2504 0.0061 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant NA NA NA NA ENST00000286353.4:c.*1043G>C chr3.hg19:g.141013090G>C NA D3DNF5|Q49AJ2|W0TR04 hg19 CCDS3116.1 0.02 7.710876 CTTxGTG COVERED NOVEL ACPL2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000359533.2 2 26.185299 KEEP 0 0 0 87 3064 GG 1 1 0 + 13 60 436 0 0 28.03745 220 60 8205 386 ENST00000286353.4 0.055794 1 ZBTB38 253461 __UNKNOWN__ __UNKNOWN__ 3 141162128 141162128 __UNKNOWN__ Missense_Mutation SNP C C G rs62282002 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:141162128C>G ENST00000514251.1 + 4 1177 c.898C>G c.(898-900)Cca>Gca p.P300A ZBTB38_ENST00000321464.5_Missense_Mutation_p.P301A|ZBTB38_ENST00000441582.2_Missense_Mutation_p.P300A zinc finger and BTB domain containing 38 NA NA breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 41 AAGTCCACAACCAGCTGCTGT 0.443 NA C||| 557 0.111222 0.0053 0.2046 5008 , , NA 21560 0.2192 NA 0.0915 False NA ,,, NA NA NA 2504 0.0971 NA NA NA NA 0 C ALA/PRO 74,3726 1,72,1827 87 84 85 898 5.3 1 3 dbSNP_129 85 730,7500 23,684,3408 yes missense ZBTB38 NM_001080412.2 27 24,756,5235 GG,GC,CC 8.87,1.9474,6.6833 possibly-damaging 300/1196 141162128 804,11226 1900 4115 6015 SO:0001583 missense BC015444 CCDS43157.1 3q23 2014-06-13 ENSG00000177311 ENSG00000177311 253461 -, Zinc fingers, C2H2-type, BTB/POZ domain containing 26636 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 171 612218 NA 12477932 Standard NM_001080412 NA Approved FLJ35036, CIBZ, ZNF921, PPP1R171 uc003etw.3 Q8NAP3 OTTHUMG00000160128 ENST00000514251.1:c.898C>G chr3.hg19:g.141162128C>G ENSP00000426387:p.Pro300Ala NA hg19 CCDS43157.1 0.02 14.802993 CAAxCAG COVERED 282 0.12912087912087913 6 0.012195121951219513 64 0.17679558011049723 146 0.25524475524475526 66 0.0870712401055409 C 1.183 -0.637454 0.03557 0.019474 0.0887 ENSG00000177311 ENST00000509883;ENST00000514251;ENST00000441582;ENST00000321464 T;T;T;T 0.08720 3.39;3.06;3.06;3.06 5.28 5.28 0.74379 . 0.624337 0.16082 N 0.230452 T 0.00012 0.0000 N 0.24115 0.695 0.80722 P 0.0 B 0.24483 0.104 B 0.25140 0.058 T 0.47522 -0.9111 8 . . . -11.0258 7.1963 0.25855 0.0:0.7913:0.0:0.2087 rs62282002 300 Q8NAP3 ZBT38_HUMAN A 300;300;300;301 ENSP00000424254:P300A;ENSP00000426387:P300A;ENSP00000406955:P300A;ENSP00000372635:P301A . P + 1 0 ZBTB38 142644818 0.570000 0.26651 0.959000 0.39883 0.750000 0.42670 1.548000 0.36201 2.611000 0.88343 0.591000 0.81541 CCA NOVEL ZBTB38-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000359329.2 2 54.387846 KEEP 0 3 113 220 7833 CC 1 1 0 + 16 60 628 0 0 42.567715 317 60 11754 737 ENST00000514251.1 0.048048 1 ZBTB38 253461 __UNKNOWN__ __UNKNOWN__ 3 141162185 141162185 __UNKNOWN__ Missense_Mutation SNP T T G rs16851435 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:141162185T>G ENST00000514251.1 + 4 1234 c.955T>G c.(955-957)Tcc>Gcc p.S319A ZBTB38_ENST00000321464.5_Missense_Mutation_p.S320A|ZBTB38_ENST00000441582.2_Missense_Mutation_p.S319A zinc finger and BTB domain containing 38 NA NA breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 41 TGTCCATTTTTCCAGGGAAGA 0.458 NA T||| 847 0.169129 0.087 0.2219 5008 , , NA 20680 0.3095 NA 0.1113 False NA ,,, NA NA NA 2504 0.1575 NA NA NA NA 0 T ALA/SER 372,3436 17,338,1549 69 68 68 955 -2.6 0 3 dbSNP_123 68 862,7360 40,782,3289 yes missense ZBTB38 NM_001080412.2 99 57,1120,4838 GG,GT,TT 10.4841,9.7689,10.2577 benign 319/1196 141162185 1234,10796 1904 4111 6015 SO:0001583 missense BC015444 CCDS43157.1 3q23 2014-06-13 ENSG00000177311 ENSG00000177311 253461 -, Zinc fingers, C2H2-type, BTB/POZ domain containing 26636 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 171 612218 NA 12477932 Standard NM_001080412 NA Approved FLJ35036, CIBZ, ZNF921, PPP1R171 uc003etw.3 Q8NAP3 OTTHUMG00000160128 ENST00000514251.1:c.955T>G chr3.hg19:g.141162185T>G ENSP00000426387:p.Ser319Ala NA hg19 CCDS43157.1 0.02 9.193027 TTTxCCA COVERED 385 0.1762820512820513 42 0.08536585365853659 71 0.19613259668508287 194 0.33916083916083917 78 0.10290237467018469 T 3.800 -0.041870 0.07452 0.097689 0.104841 ENSG00000177311 ENST00000509883;ENST00000514251;ENST00000441582;ENST00000321464 T;T;T;T 0.09350 3.39;2.99;2.99;3.0 5.28 -2.59 0.06209 . 0.690156 0.14567 N 0.311714 T 0.00012 0.0000 N 0.19112 0.55 0.80722 P 0.0 B 0.16603 0.018 B 0.16289 0.015 T 0.48410 -0.9038 8 . . . -1.5088 11.4515 0.50156 0.0:0.5188:0.0:0.4812 rs16851435;rs52829558;rs16851435 319 Q8NAP3 ZBT38_HUMAN A 319;319;319;320 ENSP00000424254:S319A;ENSP00000426387:S319A;ENSP00000406955:S319A;ENSP00000372635:S320A . S + 1 0 ZBTB38 142644875 0.000000 0.05858 0.019000 0.16419 0.426000 0.31534 -0.438000 0.06905 -0.388000 0.07797 -0.353000 0.07706 TCC NOVEL ZBTB38-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000359329.2 5 37.247033 KEEP 0 2 72 149 4626 TT 1 1 0 + 13 60 465 0 0 31.1985 221 60 7678 482 ENST00000514251.1 0.055556 1 RASA2 5922 __UNKNOWN__ __UNKNOWN__ 3 141295778 141295778 __UNKNOWN__ Intron SNP T T A rs3732869 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:141295778T>A ENST00000286364.3 + 15 1518 RASA2_ENST00000452898.1_Intron Q15283 RASA2_HUMAN RAS p21 protein activator 2 NA NA intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235) metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099) NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 34 CTATATTTTTTAATTTATCAT 0.303 NA T||| 866 0.172923 0.2519 0.2464 5008 , , NA 14610 0.2133 NA 0.0646 False NA ,,, NA NA NA 2504 0.0838 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF115573 CCDS3117.1 3q22-q23 2013-01-10 ENSG00000155903 ENSG00000155903 5922 Pleckstrin homology (PH) domain containing 9872 protein-coding gene gene with protein product 601589 NA 8699317 Standard NM_006506 NM_006506 NA Approved GAP1M uc003etz.1 Q15283 OTTHUMG00000160221 ENST00000286364.3:c.1484-64T>A chr3.hg19:g.141295778T>A NA A8K7K1|G3V0F9|O00695|Q15284|Q92594|Q99577|Q9UEQ2 hg19 CCDS3117.1 0.02 3.909425 TTTxAAT COVERED NOVEL RASA2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000359711.2 0 4.345062 KEEP 0 1 33 26 745 TT 0.999988 0.999987 0 + 8 60 280 0 0 18.689704 125 60 4407 173 ENST00000286364.3 0.06015 1 GRK7 131890 __UNKNOWN__ __UNKNOWN__ 3 141535558 141535558 __UNKNOWN__ Missense_Mutation SNP A A G rs36009541 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:141535558A>G ENST00000264952.2 + 4 1465 c.1328A>G c.(1327-1329)gAa>gGa p.E443G NM_139209.2 NP_631948.1 Q8WTQ7 GRK7_HUMAN G protein-coupled receptor kinase 7 443 Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}. NA E -> G (in dbSNP:rs36009541). {ECO:0000269|PubMed:17344846}. protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601) membrane (GO:0016020) ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254) endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 26 CTTCACAGAGAAAAGTCTGAT 0.403 NA A||| 281 0.0561102 0.0522 0.0663 5008 , , NA 17513 0.0139 NA 0.1054 False NA ,,, NA NA NA 2504 0.047 NA NA NA NA 0 A GLY/GLU 286,4120 140.4+/-175.9 10,266,1927 61 63 62 1328 5.4 1 3 dbSNP_126 62 1083,7517 200.9+/-244.5 66,951,3283 yes missense GRK7 NM_139209.2 98 76,1217,5210 GG,GA,AA 12.593,6.4911,10.5259 benign 443/554 141535558 1369,11637 2203 4300 6503 SO:0001583 missense CCDS3120.1 3q24 2004-02-04 2004-02-04 2004-02-04 ENSG00000114124 ENSG00000114124 131890 17031 protein-coding gene gene with protein product 606987 GPRK7 NA 11717351, 11754336 Standard NM_139209 NM_139209 NA Approved uc011bnd.2 Q8WTQ7 OTTHUMG00000159068 ENST00000264952.2:c.1328A>G chr3.hg19:g.141535558A>G ENSP00000264952:p.Glu443Gly NA hg19 CCDS3120.1 0.02 6.418718 GAGxAAA COVERED 155 0.07097069597069597 32 0.06504065040650407 33 0.09116022099447514 5 0.008741258741258742 85 0.11213720316622691 A 5.489 0.275185 0.10403 0.064911 0.12593 ENSG00000114124 ENST00000264952 T 0.69806 -0.43 5.4 5.4 0.78164 Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1); 0.347524 0.29205 N 0.012835 T 0.00384 0.0012 N 0.04297 -0.235 0.80722 P 0.0 B 0.10296 0.003 B 0.10450 0.005 T 0.12811 -1.0533 9 0.02654 T 1 -8.9791 5.9235 0.19096 0.7242:0.1522:0.1236:0.0 rs36009541 443 Q8WTQ7 GRK7_HUMAN G 443 ENSP00000264952:E443G ENSP00000264952:E443G E + 2 0 GRK7 143018248 0.006000 0.16342 0.997000 0.53966 0.946000 0.59487 0.459000 0.21908 2.052000 0.61016 0.383000 0.25322 GAA NOVEL GRK7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000353168.1 1 9.328603 KEEP 0 0 0 31 994 AA 0.999997 0.999997 0 + 9 60 316 0 0 20.742553 156 60 5467 227 ENST00000264952.2 0.054545 1 GRK7 131890 __UNKNOWN__ __UNKNOWN__ 3 141535608 141535608 __UNKNOWN__ Missense_Mutation SNP C C A rs33928105 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:141535608C>A ENST00000264952.2 + 4 1515 c.1378C>A c.(1378-1380)Cct>Act p.P460T NM_139209.2 NP_631948.1 Q8WTQ7 GRK7_HUMAN G protein-coupled receptor kinase 7 460 AGC-kinase C-terminal. NA P -> T (in dbSNP:rs33928105). {ECO:0000269|PubMed:17344846}. protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601) membrane (GO:0016020) ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254) endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 26 GATCAACTTTCCTCGCCTGGA 0.428 NA C||| 321 0.0640974 0.0817 0.0677 5008 , , NA 17376 0.0139 NA 0.1054 False NA ,,, NA NA NA 2504 0.047 NA NA NA NA 0 C THR/PRO 369,4037 188.8+/-215.1 17,335,1851 112 113 113 1378 2.5 1 3 dbSNP_126 113 1105,7495 230.1+/-264.6 66,973,3261 yes missense GRK7 NM_139209.2 38 83,1308,5112 AA,AC,CC 12.8488,8.3749,11.3332 benign 460/554 141535608 1474,11532 2203 4300 6503 SO:0001583 missense CCDS3120.1 3q24 2004-02-04 2004-02-04 2004-02-04 ENSG00000114124 ENSG00000114124 131890 17031 protein-coding gene gene with protein product 606987 GPRK7 NA 11717351, 11754336 Standard NM_139209 NM_139209 NA Approved uc011bnd.2 Q8WTQ7 OTTHUMG00000159068 ENST00000264952.2:c.1378C>A chr3.hg19:g.141535608C>A ENSP00000264952:p.Pro460Thr NA hg19 CCDS3120.1 0.02 9.861619 TTTxCTC COVERED 165 0.07554945054945054 42 0.08536585365853659 33 0.09116022099447514 5 0.008741258741258742 85 0.11213720316622691 C 14.10 2.434647 0.43224 0.083749 0.128488 ENSG00000114124 ENST00000264952 T 0.24723 1.84 5.4 2.52 0.30459 AGC-kinase, C-terminal (2);Protein kinase-like domain (1); 0.279721 0.36444 N 0.002584 T 0.00210 0.0006 L 0.45581 1.43 0.37836 P 0.07110899999999998 B 0.28128 0.201 B 0.25140 0.058 T 0.08207 -1.0733 9 0.46703 T 0.11 -3.9809 7.2857 0.26337 0.124:0.6777:0.1298:0.0685 rs33928105 460 Q8WTQ7 GRK7_HUMAN T 460 ENSP00000264952:P460T ENSP00000264952:P460T P + 1 0 GRK7 143018298 1.000000 0.71417 0.991000 0.47740 0.898000 0.52572 3.309000 0.51903 0.210000 0.20664 0.467000 0.42956 CCT NOVEL GRK7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000353168.1 0 13.543752 KEEP 0 0 0 45 1580 CC 1 1 0 + 10 60 340 0 0 20.386026 250 60 9262 354 ENST00000264952.2 0.038462 1 GRK7 131890 __UNKNOWN__ __UNKNOWN__ 3 141536477 141536477 __UNKNOWN__ 3'UTR SNP T T A rs13085196 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:141536477T>A ENST00000264952.2 + 0 2384 NM_139209.2 NP_631948.1 Q8WTQ7 GRK7_HUMAN G protein-coupled receptor kinase 7 NA NA protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601) membrane (GO:0016020) ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254) endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 26 TTTACTATCATAATGTTGAAG 0.274 NA T||| 327 0.0652955 0.0855 0.0677 5008 , , NA 19634 0.0139 NA 0.1054 False NA ,,, NA NA NA 2504 0.0481 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS3120.1 3q24 2004-02-04 2004-02-04 2004-02-04 ENSG00000114124 ENSG00000114124 131890 17031 protein-coding gene gene with protein product 606987 GPRK7 NA 11717351, 11754336 Standard NM_139209 NM_139209 NA Approved uc011bnd.2 Q8WTQ7 OTTHUMG00000159068 ENST00000264952.2:c.*585T>A chr3.hg19:g.141536477T>A NA hg19 CCDS3120.1 0.02 7.779855 TCAxAAT COVERED NOVEL GRK7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000353168.1 1 11.131237 KEEP 0 0 0 37 1129 TT 1 1 0 + 11 60 393 0 0 25.478816 214 60 7770 280 ENST00000264952.2 0.048889 1 GRK7 131890 __UNKNOWN__ __UNKNOWN__ 3 141536785 141536785 __UNKNOWN__ 3'UTR SNP A A G rs35249682 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:141536785A>G ENST00000264952.2 + 0 2692 NM_139209.2 NP_631948.1 Q8WTQ7 GRK7_HUMAN G protein-coupled receptor kinase 7 NA NA protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601) membrane (GO:0016020) ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254) endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 26 actgCTGTGCACATTTGAATG 0.398 NA A||| 328 0.0654952 0.0855 0.0677 5008 , , NA 18562 0.0139 NA 0.1064 False NA ,,, NA NA NA 2504 0.0481 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS3120.1 3q24 2004-02-04 2004-02-04 2004-02-04 ENSG00000114124 ENSG00000114124 131890 17031 protein-coding gene gene with protein product 606987 GPRK7 NA 11717351, 11754336 Standard NM_139209 NM_139209 NA Approved uc011bnd.2 Q8WTQ7 OTTHUMG00000159068 ENST00000264952.2:c.*893A>G chr3.hg19:g.141536785A>G NA hg19 CCDS3120.1 0.02 4.263638 TGCxCAT COVERED NOVEL GRK7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000353168.1 1 6.017462 KEEP 0 0 0 20 607 AA 0.999863 0.999844 0 + 6 60 209 0 0 13.807814 98 60 3505 141 ENST00000264952.2 0.057692 0.999981 GRK7 131890 __UNKNOWN__ __UNKNOWN__ 3 141536947 141536947 __UNKNOWN__ 3'UTR SNP C C A rs35805003 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:141536947C>A ENST00000264952.2 + 0 2854 NM_139209.2 NP_631948.1 Q8WTQ7 GRK7_HUMAN G protein-coupled receptor kinase 7 NA NA protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601) membrane (GO:0016020) ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254) endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 26 CTTGTCCTTGCACACTTTAGT 0.413 NA C||| 657 0.13119 0.208 0.1066 5008 , , NA 19144 0.1012 NA 0.1262 False NA ,,, NA NA NA 2504 0.0808 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS3120.1 3q24 2004-02-04 2004-02-04 2004-02-04 ENSG00000114124 ENSG00000114124 131890 17031 protein-coding gene gene with protein product 606987 GPRK7 NA 11717351, 11754336 Standard NM_139209 NM_139209 NA Approved uc011bnd.2 Q8WTQ7 OTTHUMG00000159068 ENST00000264952.2:c.*1055C>A chr3.hg19:g.141536947C>A NA hg19 CCDS3120.1 0.02 2.024345 TTGxACA COVERED NOVEL GRK7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000353168.1 2 6.01943 KEEP 0 0 0 20 708 CC 0.999863 0.999589 0 + 9 60 320 0 0 23.730459 78 60 2957 134 ENST00000264952.2 0.103448 0.999726 ATP1B3 483 __UNKNOWN__ __UNKNOWN__ 3 141595527 141595527 __UNKNOWN__ 5'UTR SNP C C G rs11539489 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:141595527C>G ENST00000286371.3 + 0 72 ATP1B3_ENST00000539728.1_5'UTR NM_001679.2 NP_001670.1 P54709 AT1B3_HUMAN ATPase, Na+/K+ transporting, beta 3 polypeptide NA NA blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|leukocyte migration (GO:0050900)|membrane repolarization (GO:0086009)|positive regulation of ATP catabolic process (GO:1903291)|positive regulation of ATPase activity (GO:0032781)|positive regulation of potassium ion import (GO:1903288)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of sodium ion export from cell (GO:1903278)|potassium ion import (GO:0010107)|protein localization to plasma membrane (GO:0072659)|protein stabilization (GO:0050821)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|transport (GO:0006810) caveola (GO:0005901)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890) ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|sodium:potassium-exchanging ATPase activity (GO:0005391) cervix(1)|endometrium(1)|lung(2) 4 TGTTCTCGGCCGTCCCACCCT 0.781 NA C||| 406 0.0810703 0.0076 0.111 5008 , , NA 6151 0.1438 NA 0.0934 False NA ,,, NA NA NA 2504 0.0818 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant BC011835 CCDS3121.1 3q23 2012-10-22 ENSG00000069849 ENSG00000069849 483 CD molecules, ATPases / P-type 806 protein-coding gene gene with protein product sodium/potassium-transporting ATPase subunit beta-3, sodium pump subunit beta-3, sodium-potassium ATPase subunit beta 3 (non-catalytic) 601867 NA 8798450, 9457675 Standard NM_001679 NM_001679 NA Approved FLJ29027, CD298 uc003eug.1 P54709 OTTHUMG00000159081 ENST00000286371.3:c.-117C>G chr3.hg19:g.141595527C>G NA B7Z1N7 hg19 CCDS3121.1 0.02 -0.254403 GGCxGTC COVERED NOVEL ATP1B3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000353218.1 1 14.442616 KEEP 0 0 0 48 1598 CC 1 0.668523 0 + 3 60 95 0 0 6.744486 26 60 906 86 ENST00000286371.3 0.103448 0.668523 ATP1B3 483 __UNKNOWN__ __UNKNOWN__ 3 141626123 141626123 __UNKNOWN__ Intron SNP A A G rs3792411 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:141626123A>G ENST00000286371.3 + 3 534 ATP1B3_ENST00000462082.1_Intron|ATP1B3_ENST00000539728.1_Intron NM_001679.2 NP_001670.1 P54709 AT1B3_HUMAN ATPase, Na+/K+ transporting, beta 3 polypeptide NA NA blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|leukocyte migration (GO:0050900)|membrane repolarization (GO:0086009)|positive regulation of ATP catabolic process (GO:1903291)|positive regulation of ATPase activity (GO:0032781)|positive regulation of potassium ion import (GO:1903288)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of sodium ion export from cell (GO:1903278)|potassium ion import (GO:0010107)|protein localization to plasma membrane (GO:0072659)|protein stabilization (GO:0050821)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|transport (GO:0006810) caveola (GO:0005901)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890) ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|sodium:potassium-exchanging ATPase activity (GO:0005391) cervix(1)|endometrium(1)|lung(2) 4 AAACGTGAGTATGTTTTCTTA 0.423 NA A||| 444 0.0886581 0.0083 0.1239 5008 , , NA 18645 0.1438 NA 0.1213 False NA ,,, NA NA NA 2504 0.0818 NA NA NA NA 0 A 140,4266 97.1+/-135.8 5,130,2068 61 60 60 -5.5 0 3 dbSNP_107 60 1265,7335 252.2+/-278.4 101,1063,3136 no intron ATP1B3 NM_001679.2 106,1193,5204 GG,GA,AA 14.7093,3.1775,10.8027 141626123 1405,11601 2203 4300 6503 SO:0001627 intron_variant BC011835 CCDS3121.1 3q23 2012-10-22 ENSG00000069849 ENSG00000069849 483 CD molecules, ATPases / P-type 806 protein-coding gene gene with protein product sodium/potassium-transporting ATPase subunit beta-3, sodium pump subunit beta-3, sodium-potassium ATPase subunit beta 3 (non-catalytic) 601867 NA 8798450, 9457675 Standard NM_001679 NM_001679 NA Approved FLJ29027, CD298 uc003eug.1 P54709 OTTHUMG00000159081 ENST00000286371.3:c.346+7A>G chr3.hg19:g.141626123A>G NA B7Z1N7 hg19 CCDS3121.1 0.02 2.478656 AGTxTGT COVERED NOVEL ATP1B3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000353218.1 1 7.220687 KEEP 0 0 0 24 717 AA 0.999909 0.984072 0 + 5 60 195 0 0 14.489922 53 60 1915 103 ENST00000286371.3 0.086207 0.984161 ATP1B3 483 __UNKNOWN__ __UNKNOWN__ 3 141644774 141644774 __UNKNOWN__ 3'UTR SNP G G C rs11844 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:141644774G>C ENST00000286371.3 + 0 1259 ATP1B3_ENST00000462082.1_3'UTR|ATP1B3_ENST00000484727.1_3'UTR|ATP1B3_ENST00000539728.1_3'UTR NM_001679.2 NP_001670.1 P54709 AT1B3_HUMAN ATPase, Na+/K+ transporting, beta 3 polypeptide NA NA blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|leukocyte migration (GO:0050900)|membrane repolarization (GO:0086009)|positive regulation of ATP catabolic process (GO:1903291)|positive regulation of ATPase activity (GO:0032781)|positive regulation of potassium ion import (GO:1903288)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of sodium ion export from cell (GO:1903278)|potassium ion import (GO:0010107)|protein localization to plasma membrane (GO:0072659)|protein stabilization (GO:0050821)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|transport (GO:0006810) caveola (GO:0005901)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890) ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|sodium:potassium-exchanging ATPase activity (GO:0005391) cervix(1)|endometrium(1)|lung(2) 4 GATAGGGACCGGTGAACACCT 0.458 NA G||| 400 0.0798722 0.0068 0.1037 5008 , , NA 21618 0.1458 NA 0.0915 False NA ,,, NA NA NA 2504 0.0818 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC011835 CCDS3121.1 3q23 2012-10-22 ENSG00000069849 ENSG00000069849 483 CD molecules, ATPases / P-type 806 protein-coding gene gene with protein product sodium/potassium-transporting ATPase subunit beta-3, sodium pump subunit beta-3, sodium-potassium ATPase subunit beta 3 (non-catalytic) 601867 NA 8798450, 9457675 Standard NM_001679 NM_001679 NA Approved FLJ29027, CD298 uc003eug.1 P54709 OTTHUMG00000159081 ENST00000286371.3:c.*231G>C chr3.hg19:g.141644774G>C NA B7Z1N7 hg19 CCDS3121.1 0.02 17.691322 ACCxGTG COVERED NOVEL ATP1B3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000353218.1 3 31.599639 KEEP 0 0 0 105 3569 GG 1 1 0 + 16 60 578 0 0 36.071171 396 60 14031 644 ENST00000286371.3 0.038835 1 GK5 256356 __UNKNOWN__ __UNKNOWN__ 3 141923506 141923506 __UNKNOWN__ Intron SNP C C T rs9830411 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:141923506C>T ENST00000392993.2 - 4 563 GK5_ENST00000466685.3_Intron|GK5_ENST00000544571.1_Intron NM_001039547.2 NP_001034636.1 Q6ZS86 GLPK5_HUMAN glycerol kinase 5 (putative) NA NA glycerol catabolic process (GO:0019563) ATP binding (GO:0005524)|glycerol kinase activity (GO:0004370) kidney(1)|large_intestine(1)|lung(7)|urinary_tract(1) 10 AAAAAACCAACAATATCCAAA 0.318 NA c||| 2967 0.592452 0.6641 0.6499 5008 , , NA 19345 0.5308 NA 0.659 False NA ,,, NA NA NA 2504 0.4499 NA NA NA NA 0 C 2955,1449 656.9+/-400.1 984,987,231 63 67 66 -3.1 0 3 dbSNP_119 66 5906,2682 676.2+/-403.3 2033,1840,421 no intron GK5 NM_001039547.2 3017,2827,652 TT,TC,CC 31.2296,32.9019,31.7965 141923506 8861,4131 2202 4294 6496 SO:0001627 intron_variant BX648681 CCDS33871.1 3q23 2014-02-12 2006-09-21 ENSG00000175066 ENSG00000175066 256356 Glycerol kinases 28635 protein-coding gene gene with protein product NA 12477932 Standard NM_001039547 NM_001039547 NA Approved MGC40579 uc003euq.2 Q6ZS86 OTTHUMG00000133572 ENST00000392993.2:c.411+30G>A chr3.hg19:g.141923506C>T NA B2R9I2|D3DNG2|Q8N2A7|Q8N5E6 hg19 CCDS33871.1 0.02 1.610973 CAAxAAT COVERED NOVEL GK5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000353999.1 0 8.728087 KEEP 0 0 0 29 1009 CC 0.999997 0.99996 0 - 7 60 232 0 0 15.531562 93 60 3471 144 ENST00000392993.2 0.07 0.999962 GK5 256356 __UNKNOWN__ __UNKNOWN__ 3 141932356 141932356 __UNKNOWN__ Intron SNP G G A rs6440072 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:141932356G>A ENST00000392993.2 - 3 469 GK5_ENST00000466685.3_Intron|GK5_ENST00000544571.1_Intron NM_001039547.2 NP_001034636.1 Q6ZS86 GLPK5_HUMAN glycerol kinase 5 (putative) NA NA glycerol catabolic process (GO:0019563) ATP binding (GO:0005524)|glycerol kinase activity (GO:0004370) kidney(1)|large_intestine(1)|lung(7)|urinary_tract(1) 10 GCTTATCACAGAATGTACTTA 0.383 NA A||| 3238 0.646565 0.8601 0.6614 5008 , , NA 15215 0.5308 NA 0.662 False NA ,,, NA NA NA 2504 0.4509 NA NA NA NA 0 A 3682,724 298.7+/-285.4 1524,634,45 159 147 151 1.8 0 3 dbSNP_116 151 5923,2677 430.2+/-356.4 2041,1841,418 no intron GK5 NM_001039547.2 3565,2475,463 AA,AG,GG 31.1279,16.4321,26.1495 141932356 9605,3401 2203 4300 6503 SO:0001627 intron_variant BX648681 CCDS33871.1 3q23 2014-02-12 2006-09-21 ENSG00000175066 ENSG00000175066 256356 Glycerol kinases 28635 protein-coding gene gene with protein product NA 12477932 Standard NM_001039547 NM_001039547 NA Approved MGC40579 uc003euq.2 Q6ZS86 OTTHUMG00000133572 ENST00000392993.2:c.317+11C>T chr3.hg19:g.141932356G>A NA B2R9I2|D3DNG2|Q8N2A7|Q8N5E6 hg19 CCDS33871.1 0.02 16.581092 ACAxAAT COVERED NOVEL GK5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000353999.1 4 43.317254 KEEP 0 5 157 199 7103 GG 1 1 0 - 29 60 1049 0 0 75.067462 328 60 12722 749 ENST00000392993.2 0.081232 1 GK5 256356 __UNKNOWN__ __UNKNOWN__ 3 141932531 141932531 __UNKNOWN__ Intron SNP T T C rs11926898 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:141932531T>C ENST00000392993.2 - 3 393 GK5_ENST00000466685.3_Intron|GK5_ENST00000544571.1_Intron NM_001039547.2 NP_001034636.1 Q6ZS86 GLPK5_HUMAN glycerol kinase 5 (putative) NA NA glycerol catabolic process (GO:0019563) ATP binding (GO:0005524)|glycerol kinase activity (GO:0004370) kidney(1)|large_intestine(1)|lung(7)|urinary_tract(1) 10 AAATCCAATATAATCTTTAAG 0.259 NA T||| 583 0.116414 0.1415 0.1974 5008 , , NA 15359 0.0685 NA 0.1402 False NA ,,, NA NA NA 2504 0.0501 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BX648681 CCDS33871.1 3q23 2014-02-12 2006-09-21 ENSG00000175066 ENSG00000175066 256356 Glycerol kinases 28635 protein-coding gene gene with protein product NA 12477932 Standard NM_001039547 NM_001039547 NA Approved MGC40579 uc003euq.2 Q6ZS86 OTTHUMG00000133572 ENST00000392993.2:c.242-88A>G chr3.hg19:g.141932531T>C NA B2R9I2|D3DNG2|Q8N2A7|Q8N5E6 hg19 CCDS33871.1 0.02 -0.412328 ATAxAAT COVERED NOVEL GK5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000353999.1 0 4.81477 KEEP 0 0 0 16 509 TT 0.997832 0.939699 0 - 5 60 189 0 0 14.369418 42 60 1479 63 ENST00000392993.2 0.106383 0.941741 ATR 545 __UNKNOWN__ __UNKNOWN__ 3 142277536 142277536 __UNKNOWN__ Silent SNP A A G rs2227929 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:142277536A>G ENST00000350721.4 - 8 1936 c.1815T>C c.(1813-1815)gaT>gaC p.D605D ATR_ENST00000383101.3_Silent_p.D541D NM_001184.3 NP_001175.2 Q13535 ATR_HUMAN ATR serine/threonine kinase 605 NA cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493) chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741) ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674) NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 TTAAACAGCCATCATCAGAAT 0.368 NA Other conserved DNA damage response genes A||| 1556 0.310703 0.2042 0.3516 5008 , , NA 12160 0.3552 NA 0.3867 False NA ,,, NA NA NA 2504 0.3016 NA NA NA NA 0 A 937,3469 357.4+/-313.9 96,745,1362 258 265 263 1815 0 0.1 3 dbSNP_98 263 3560,5040 516.4+/-378.8 740,2080,1480 no coding-synonymous ATR NM_001184.3 836,2825,2842 GG,GA,AA 41.3953,21.2665,34.5763 605/2645 142277536 4497,8509 2203 4300 6503 SO:0001819 synonymous_variant U76308 CCDS3124.1 3q23 2014-06-17 2014-06-17 ENSG00000175054 ENSG00000175054 545 882 protein-coding gene gene with protein product MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae) 601215 ataxia telangiectasia and Rad3 related NA 8978690, 8610130 Standard NM_001184 NM_001184 NA Approved FRP1, SCKL, SCKL1, MEC1 uc003eux.4 Q13535 OTTHUMG00000159234 ENST00000350721.4:c.1815T>C chr3.hg19:g.142277536A>G NA Q59HB2|Q7KYL3|Q93051|Q9BXK4 hg19 CCDS3124.1 0.02 35.642874 GCCxTCA COVERED NOVEL ATR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000353995.2 3 13.014686 KEEP 0 5 171 103 3268 AA 1 1 0 - 25 60 896 0 0 52.583462 825 60 30751 1157 ENST00000350721.4 0.029412 1 ATR 545 __UNKNOWN__ __UNKNOWN__ 3 142277575 142277575 __UNKNOWN__ Silent SNP A A T rs2227930 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:142277575A>T ENST00000350721.4 - 8 1897 c.1776T>A c.(1774-1776)ggT>ggA p.G592G ATR_ENST00000383101.3_Silent_p.G528G NM_001184.3 NP_001175.2 Q13535 ATR_HUMAN ATR serine/threonine kinase 592 NA cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493) chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741) ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674) p.G592G(1) NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 GTGAGAGCATACCACATAAAT 0.333 NA Other conserved DNA damage response genes T||| 2995 0.598043 0.8533 0.5058 5008 , , NA 12509 0.4732 NA 0.5865 False NA ,,, NA NA NA 2504 0.4591 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) T 3506,900 347.2+/-309.4 1397,712,94 205 217 213 1776 1.8 1 3 dbSNP_98 213 5117,3483 510.5+/-377.5 1497,2123,680 no coding-synonymous ATR NM_001184.3 2894,2835,774 TT,TA,AA 40.5,20.4267,33.6998 592/2645 142277575 8623,4383 2203 4300 6503 SO:0001819 synonymous_variant U76308 CCDS3124.1 3q23 2014-06-17 2014-06-17 ENSG00000175054 ENSG00000175054 545 882 protein-coding gene gene with protein product MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae) 601215 ataxia telangiectasia and Rad3 related NA 8978690, 8610130 Standard NM_001184 NM_001184 NA Approved FRP1, SCKL, SCKL1, MEC1 uc003eux.4 Q13535 OTTHUMG00000159234 ENST00000350721.4:c.1776T>A chr3.hg19:g.142277575A>T NA Q59HB2|Q7KYL3|Q93051|Q9BXK4 hg19 CCDS3124.1 0.02 35.335234 CATxCCA COVERED NOVEL ATR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000353995.2 1 10.597024 KEEP 0 5 150 88 2694 AA 1 1 0 - 22 60 800 0 0 46.174925 829 60 29746 1137 ENST00000350721.4 0.025852 1 ATR 545 __UNKNOWN__ __UNKNOWN__ 3 142281612 142281612 __UNKNOWN__ Missense_Mutation SNP A A G rs2227928 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:142281612A>G ENST00000350721.4 - 4 753 c.632T>C c.(631-633)aTg>aCg p.M211T ATR_ENST00000383101.3_Missense_Mutation_p.M211T NM_001184.3 NP_001175.2 Q13535 ATR_HUMAN ATR serine/threonine kinase 211 NA M -> T (in dbSNP:rs2227928). cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493) chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741) ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674) p.M211T(1) NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 AGTAAGAACCATTAATAAAGT 0.318 NA Other conserved DNA damage response genes G||| 2992 0.597444 0.8517 0.5058 5008 , , NA 19058 0.4732 NA 0.5865 False NA ,,, NA NA NA 2504 0.4581 NA NA NA NA 1 Substitution - Missense(1) stomach(1) G THR/MET 3493,913 341.8+/-306.9 1387,719,97 55 56 56 632 4.6 0.8 3 dbSNP_98 56 5121,3479 506.7+/-376.7 1501,2119,680 yes missense ATR NM_001184.3 81 2888,2838,777 GG,GA,AA 40.4535,20.7217,33.769 benign 211/2645 142281612 8614,4392 2203 4300 6503 SO:0001583 missense U76308 CCDS3124.1 3q23 2014-06-17 2014-06-17 ENSG00000175054 ENSG00000175054 545 882 protein-coding gene gene with protein product MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae) 601215 ataxia telangiectasia and Rad3 related NA 8978690, 8610130 Standard NM_001184 NM_001184 NA Approved FRP1, SCKL, SCKL1, MEC1 uc003eux.4 Q13535 OTTHUMG00000159234 ENST00000350721.4:c.632T>C chr3.hg19:g.142281612A>G ENSP00000343741:p.Met211Thr NA Q59HB2|Q7KYL3|Q93051|Q9BXK4 hg19 CCDS3124.1 0.02 8.004168 ACCxTTA COVERED 1348 0.6172161172161172 416 0.8455284552845529 198 0.5469613259668509 291 0.5087412587412588 443 0.5844327176781002 G 0.013 -1.635725 0.00806 0.792783 0.595465 ENSG00000175054 ENST00000350721;ENST00000383101 T;T 0.65178 -0.14;-0.14 5.56 4.6 0.57074 Armadillo-type fold (1); 0.682857 0.14770 N 0.299410 T 0.00012 0.0000 N 0.08118 0 0.58432 P 9.99999999995449E-6 B 0.02656 0.0 B 0.01281 0.0 T 0.44907 -0.9297 9 0.02654 T 1 -1.8968 4.0735 0.09892 0.322:0.1719:0.5061:0.0 rs2227928;rs52801743;rs59723696;rs2227928 211 Q13535 ATR_HUMAN T 211 ENSP00000343741:M211T;ENSP00000372581:M211T ENSP00000343741:M211T M - 2 0 ATR 143764302 0.877000 0.30153 0.839000 0.33178 0.943000 0.58893 1.273000 0.33121 0.547000 0.28938 -0.186000 0.12905 ATG NOVEL ATR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000353995.2 3 5.951848 KEEP 0 1 32 31 957 AA 0.999997 0.999997 0 - 9 60 284 0 0 16.425805 236 60 8636 307 ENST00000350721.4 0.036735 1 PAQR9 344838 __UNKNOWN__ __UNKNOWN__ 3 142680733 142680733 __UNKNOWN__ 3'UTR SNP G G C rs79817538 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:142680733G>C ENST00000340634.3 - 0 1445 NM_198504.2 NP_940906.1 Q6ZVX9 PAQR9_HUMAN progestin and adipoQ receptor family member IX NA NA integral component of membrane (GO:0016021) receptor activity (GO:0004872) endometrium(2)|large_intestine(7)|lung(12)|prostate(1) 22 CAAACTCTTTGGGGCTTTATT 0.433 NA G||| 409 0.0816693 0.0015 0.1412 5008 , , NA 17446 0.2153 NA 0.0229 False NA ,,, NA NA NA 2504 0.0706 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY424287 CCDS3128.1 3q23 2008-05-02 ENSG00000188582 ENSG00000188582 344838 30131 protein-coding gene gene with protein product 614580 NA Standard NM_198504 NM_198504 NA Approved FLJ41938 uc003evg.3 Q6ZVX9 OTTHUMG00000159313 ENST00000340634.3:c.*312C>G chr3.hg19:g.142680733G>C NA Q147T6 hg19 CCDS3128.1 0.02 7.384945 TTTxGGG COVERED NOVEL PAQR9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000354538.1 1 6.621762 KEEP 0 0 0 22 791 GG 0.999879 0.999879 0 - 10 60 350 0 0 23.619223 147 60 5486 222 ENST00000340634.3 0.063694 1 PAQR9 344838 __UNKNOWN__ __UNKNOWN__ 3 142681090 142681090 __UNKNOWN__ Silent SNP T T G rs2276758 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:142681090T>G ENST00000340634.3 - 1 1088 c.1089A>C c.(1087-1089)gtA>gtC p.V363V NM_198504.2 NP_940906.1 Q6ZVX9 PAQR9_HUMAN progestin and adipoQ receptor family member IX 363 NA integral component of membrane (GO:0016021) receptor activity (GO:0004872) endometrium(2)|large_intestine(7)|lung(12)|prostate(1) 22 ACTTCCTGATTACCAGCCCCA 0.572 NA G||| 463 0.0924521 0.0144 0.1412 5008 , , NA 17249 0.2143 NA 0.0229 False NA ,,, NA NA NA 2504 0.1094 NA NA NA NA 0 G 74,4332 819.5+/-416.4 1,72,2130 90 104 99 1089 4.5 1 3 dbSNP_100 99 269,8331 807.2+/-407.2 4,261,4035 no coding-synonymous PAQR9 NM_198504.2 5,333,6165 GG,GT,TT 3.1279,1.6795,2.6372 363/378 142681090 343,12663 2203 4300 6503 SO:0001819 synonymous_variant AY424287 CCDS3128.1 3q23 2008-05-02 ENSG00000188582 ENSG00000188582 344838 30131 protein-coding gene gene with protein product 614580 NA Standard NM_198504 NM_198504 NA Approved FLJ41938 uc003evg.3 Q6ZVX9 OTTHUMG00000159313 ENST00000340634.3:c.1089A>C chr3.hg19:g.142681090T>G NA Q147T6 hg19 CCDS3128.1 0.02 16.967386 GATxACC COVERED 207 0.09478021978021978 7 0.014227642276422764 42 0.11602209944751381 137 0.2395104895104895 21 0.027704485488126648 G 4.544 0.101022 0.08731 0.016795 0.031279 ENSG00000188582 ENST00000492509 . . . 5.42 4.49 0.54785 . . . . . T 0.00039 0.0001 . . . 0.09310 P 0.9999999999999998 . . . . . . T 0.09271 -1.0682 3 . . . -54.7283 10.733 0.46109 0.0:0.2515:0.6141:0.1344 rs2276758;rs2276758 . . . H 104 . . N - 1 0 PAQR9 144163780 1.000000 0.71417 1.000000 0.80357 0.591000 0.36615 0.656000 0.24948 1.305000 0.44909 -0.121000 0.15023 AAT NOVEL PAQR9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000354538.1 1 21.356808 KEEP 0 0 0 71 2082 TT 1 1 0 - 12 60 436 1 0 25.358019 437 60 15154 604 ENST00000340634.3 0.026726 1 PAQR9 344838 __UNKNOWN__ __UNKNOWN__ 3 142681642 142681642 __UNKNOWN__ Silent SNP G G A rs78494654 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:142681642G>A ENST00000340634.3 - 1 536 c.537C>T c.(535-537)ggC>ggT p.G179G NM_198504.2 NP_940906.1 Q6ZVX9 PAQR9_HUMAN progestin and adipoQ receptor family member IX 179 NA integral component of membrane (GO:0016021) receptor activity (GO:0004872) endometrium(2)|large_intestine(7)|lung(12)|prostate(1) 22 GCAAGCTGAGGCCTGGCAACA 0.637 NA G||| 423 0.0844649 0.0121 0.1398 5008 , , NA 18949 0.2163 NA 0.0229 False NA ,,, NA NA NA 2504 0.0706 NA NA NA NA 0 G 63,4343 56.2+/-92.4 1,61,2141 33 32 32 537 3 1 3 dbSNP_132 32 267,8333 100.1+/-161.6 4,259,4037 no coding-synonymous PAQR9 NM_198504.2 5,320,6178 AA,AG,GG 3.1047,1.4299,2.5373 179/378 142681642 330,12676 2203 4300 6503 SO:0001819 synonymous_variant AY424287 CCDS3128.1 3q23 2008-05-02 ENSG00000188582 ENSG00000188582 344838 30131 protein-coding gene gene with protein product 614580 NA Standard NM_198504 NM_198504 NA Approved FLJ41938 uc003evg.3 Q6ZVX9 OTTHUMG00000159313 ENST00000340634.3:c.537C>T chr3.hg19:g.142681642G>A NA Q147T6 hg19 CCDS3128.1 0.02 13.134521 GAGxCCT COVERED NOVEL PAQR9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000354538.1 4 22.546618 KEEP 0 0 0 75 2607 GG 1 1 0 - 14 60 501 0 0 32.123888 293 60 10752 448 ENST00000340634.3 0.045603 1 SLC9A9 285195 __UNKNOWN__ __UNKNOWN__ 3 142985288 142985288 __UNKNOWN__ 3'UTR SNP T T C rs2289490 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:142985288T>C ENST00000316549.6 - 0 2402 NM_173653.3 NP_775924.1 Q8IVB4 SL9A9_HUMAN solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9 NA NA ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037) sodium:proton antiporter activity (GO:0015385) breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1) 57 TCCTGATACCTCCATCCCCAC 0.473 NA C||| 1238 0.247204 0.177 0.1254 5008 , , NA 16365 0.373 NA 0.175 False NA ,,, NA NA NA 2504 0.3732 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY254100 CCDS33872.1 3q23-q24 2014-01-28 2012-03-22 ENSG00000181804 ENSG00000181804 285195 Solute carriers 20653 protein-coding gene gene with protein product 608396 solute carrier family 9 (sodium/hydrogen exchanger), isoform 9, solute carrier family 9 (sodium/hydrogen exchanger), member 9 NA 14569117 Standard NM_173653 NM_173653 NA Approved FLJ35613, NHE9 uc003evn.3 Q8IVB4 OTTHUMG00000159373 ENST00000316549.6:c.*256A>G chr3.hg19:g.142985288T>C NA A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9 hg19 CCDS33872.1 0.02 6.999096 ACCxCCA COVERED NOVEL SLC9A9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000354994.1 1 8.725975 KEEP 0 0 0 29 904 TT 0.999997 0.999997 0 - 7 60 264 0 0 17.34775 149 60 5076 237 ENST00000316549.6 0.044872 1 PLOD2 5352 __UNKNOWN__ __UNKNOWN__ 3 145788467 145788467 __UNKNOWN__ 3'UTR SNP T T C rs6710 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:145788467T>C ENST00000282903.5 - 0 2491 PLOD2_ENST00000494950.1_3'UTR|PLOD2_ENST00000461497.1_3'UTR|RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000360060.3_3'UTR NM_182943.2 NP_891988.1 O00469 PLOD2_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 NA NA cellular protein modification process (GO:0006464)|extracellular matrix organization (GO:0030198)|response to hypoxia (GO:0001666) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062) iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Vitamin C(DB00126) CAGTCATTCATCCAAAATAAA 0.338 NA T||| 2560 0.511182 0.5371 0.4769 5008 , , NA 15726 0.5744 NA 0.503 False NA ,,, NA NA NA 2504 0.4438 NA NA NA NA 0 T , 2459,1943 593.8+/-388.1 683,1093,425 35 36 36 , -2.9 0 3 dbSNP_52 36 4279,4317 565.0+/-388.4 1089,2101,1108 no utr-3,utr-3 PLOD2 NM_000935.2,NM_182943.2 , 1772,3194,1533 CC,CT,TT 49.779,44.139,48.1613 , , 145788467 6738,6260 2201 4298 6499 SO:0001624 3_prime_UTR_variant U84573 CCDS3131.1, CCDS3132.1 3q24 2011-08-24 2005-01-04 ENSG00000152952 ENSG00000152952 5352 9082 protein-coding gene gene with protein product lysyl hydroxlase 2 601865 procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 2 NA 9054364 Standard NM_000935 XM_005247535 NA Approved LH2 uc003evr.1 O00469 OTTHUMG00000159417 ENST00000282903.5:c.*37A>G chr3.hg19:g.145788467T>C NA B3KWS3|Q59ED2|Q8N170 hg19 CCDS3132.1 0.02 3.967605 TCAxCCA COVERED NOVEL PLOD2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000355184.1 1 11.732666 KEEP 0 0 0 39 1189 TT 1 0.999997 0 - 5 60 180 0 0 11.457231 110 60 4001 169 ENST00000282903.5 0.043478 0.999997 PLOD2 5352 __UNKNOWN__ __UNKNOWN__ 3 145809661 145809661 __UNKNOWN__ Missense_Mutation SNP C C T rs147665692 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:145809661C>T ENST00000282903.5 - 8 982 c.805G>A c.(805-807)Gta>Ata p.V269I PLOD2_ENST00000494950.1_Missense_Mutation_p.V214I|RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000360060.3_Missense_Mutation_p.V269I NM_182943.2 NP_891988.1 O00469 PLOD2_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 269 NA cellular protein modification process (GO:0006464)|extracellular matrix organization (GO:0030198)|response to hypoxia (GO:0001666) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062) iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Vitamin C(DB00126) GAATTGGGTACATAGTTTCCA 0.368 NA C||| 25 0.00499201 0.0 0.0 5008 , , NA 16890 0.0238 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 C ILE/VAL,ILE/VAL 1,4405 2.1+/-5.4 0,1,2202 94 86 88 805,805 -0.9 0.9 3 dbSNP_134 88 0,8600 0,0,4300 yes missense,missense PLOD2 NM_000935.2,NM_182943.2 29,29 0,1,6502 TT,TC,CC 0.0,0.0227,0.0077 benign,benign 269/738,269/759 145809661 1,13005 2203 4300 6503 SO:0001583 missense U84573 CCDS3131.1, CCDS3132.1 3q24 2011-08-24 2005-01-04 ENSG00000152952 ENSG00000152952 5352 9082 protein-coding gene gene with protein product lysyl hydroxlase 2 601865 procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 2 NA 9054364 Standard NM_000935 XM_005247535 NA Approved LH2 uc003evr.1 O00469 OTTHUMG00000159417 ENST00000282903.5:c.805G>A chr3.hg19:g.145809661C>T ENSP00000282903:p.Val269Ile NA B3KWS3|Q59ED2|Q8N170 hg19 CCDS3132.1 0.02 3.531386 GTAxATA COVERED 7 0.003205128205128205 0 0.0 0 0.0 7 0.012237762237762238 0 0.0 C 5.624 0.299809 0.10622 2.27E-4 0.0 ENSG00000152952 ENST00000282903;ENST00000360060;ENST00000494950 T;T;T 0.64260 -0.09;-0.08;-0.07 6.06 -0.906 0.10524 . 0.353101 0.32703 N 0.005748 T 0.22627 0.0546 N 0.03983 -0.305 0.34989 D 0.754851 B;B;B 0.18610 0.001;0.029;0.004 B;B;B 0.20955 0.006;0.032;0.008 T 0.34775 -0.9815 10 0.06757 T 0.87 -12.674 10.8042 0.46507 0.0:0.3751:0.0:0.6249 . 214;269;269 E7ETU9;O00469;O00469-2 .;PLOD2_HUMAN;. I 269;269;214 ENSP00000282903:V269I;ENSP00000353170:V269I;ENSP00000420094:V214I ENSP00000282903:V269I V - 1 0 PLOD2 147292351 1.000000 0.71417 0.906000 0.35671 0.958000 0.62258 0.667000 0.25112 -0.026000 0.13895 -0.145000 0.13849 GTA NOVEL PLOD2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000355184.1 1 12.942704 KEEP 0 0 0 43 1566 CC 1 1 0 - 6 60 192 0 0 11.282328 136 60 5258 245 ENST00000282903.5 0.042254 1 PLOD2 5352 __UNKNOWN__ __UNKNOWN__ 3 145841023 145841023 __UNKNOWN__ Intron SNP A A G rs375749412 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:145841023A>G ENST00000282903.5 - 2 379 PLOD2_ENST00000494950.1_Intron|PLOD2_ENST00000360060.3_Intron NM_182943.2 NP_891988.1 O00469 PLOD2_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 NA NA cellular protein modification process (GO:0006464)|extracellular matrix organization (GO:0030198)|response to hypoxia (GO:0001666) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062) iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Vitamin C(DB00126) TTTTTTAAAAAAAAAGTTTTT 0.284 NA -||| 1 0.000199681 0.0 0.0 5008 , , NA 15018 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U84573 CCDS3131.1, CCDS3132.1 3q24 2011-08-24 2005-01-04 ENSG00000152952 ENSG00000152952 5352 9082 protein-coding gene gene with protein product lysyl hydroxlase 2 601865 procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 2 NA 9054364 Standard NM_000935 XM_005247535 NA Approved LH2 uc003evr.1 O00469 OTTHUMG00000159417 ENST00000282903.5:c.201+901T>C chr3.hg19:g.145841023A>G NA B3KWS3|Q59ED2|Q8N170 hg19 CCDS3132.1 0.02 2.161386 AAAxAAA COVERED NOVEL PLOD2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000355184.1 0 6.921513 KEEP 0 0 0 23 740 AA 0.999892 0.987837 0 - 6 60 215 0 0 15.89408 54 60 1947 99 ENST00000282903.5 0.1 0.987943 ZIC4 84107 __UNKNOWN__ __UNKNOWN__ 3 147111694 147111694 __UNKNOWN__ Intron SNP C C T rs16859414 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:147111694C>T ENST00000491672.1 - 3 513 ZIC4_ENST00000473123.1_Intron|ZIC4_ENST00000525172.2_Intron|ZIC4_ENST00000383075.3_Intron|ZIC4_ENST00000484399.1_Intron|ZIC4_ENST00000425731.3_Intron NM_001243256.1 NP_001230185.1 Q8N9L1 ZIC4_HUMAN Zic family member 4 NA NA nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4) 57 CCTTTCGGTGCGGACAGTCGC 0.612 NA C||| 237 0.0473243 0.0144 0.0288 5008 , , NA 12697 0.0407 NA 0.0765 False NA ,,, NA NA NA 2504 0.0818 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF332509 CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1 3q24 2013-01-08 2003-02-21 ENSG00000174963 ENSG00000174963 84107 Zinc fingers, C2H2-type 20393 protein-coding gene gene with protein product 608948 zinc finger protein of the cerebellum 4 NA Standard NM_001168378 NA Approved uc011bno.2 Q8N9L1 OTTHUMG00000037281 ENST00000491672.1:c.71-2661G>A chr3.hg19:g.147111694C>T NA A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94 hg19 CCDS58857.1 0.02 6.529299 GTGxGGA COVERED 105 0.04807692307692308 10 0.02032520325203252 11 0.03038674033149171 20 0.03496503496503497 64 0.08443271767810026 C 12.06 1.825082 0.32237 . . ENSG00000152977 ENST00000488404 . . . 3.79 -0.451 0.12214 . . . . . T 0.01800 0.0057 . . . 0.09310 N 1 . . . . . . T 0.10683 -1.0619 4 . . . . 8.5144 0.33237 0.0:0.366:0.5047:0.1294 rs16859414 . . . W 5 . . R + 1 2 ZIC1 148594384 0.000000 0.05858 0.000000 0.03702 0.116000 0.19942 -0.225000 0.09151 -0.402000 0.07633 -0.311000 0.09066 CGG NOVEL ZIC4-009 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000355512.1 1 9.329872 KEEP 0 0 0 31 1084 CC 0.999997 0.999997 0 - 17 60 606 0 0 44.497119 158 60 5568 276 ENST00000491672.1 0.097143 1 ZIC1 7545 __UNKNOWN__ __UNKNOWN__ 3 147127771 147127771 __UNKNOWN__ 5'UTR SNP C C T rs116328717 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:147127771C>T ENST00000282928.4 + 0 601 NM_003412.3 NP_003403.2 Q15915 ZIC1_HUMAN Zic family member 1 NA NA adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 63 GGGTCGActccccctccctcc 0.706 NA C||| 225 0.0449281 0.0015 0.0259 5008 , , NA 9823 0.0407 NA 0.0765 False NA ,,, NA NA NA 2504 0.089 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant D76435 CCDS3136.1 3q24 2013-01-08 2011-05-19 ENSG00000152977 ENSG00000152977 7545 Zinc fingers, C2H2-type 12872 protein-coding gene gene with protein product 600470 Zic family member 1 (odd-paired Drosophila homolog), Zic family member 1 (odd-paired homolog, Drosophila) NA 8542595 Standard NM_003412 NM_003412 NA Approved ZIC, ZNF201 uc003ewe.3 Q15915 OTTHUMG00000159456 ENST00000282928.4:c.-129C>T chr3.hg19:g.147127771C>T NA Q2M3N1 hg19 CCDS3136.1 0.02 -0.359682 CTCxCCC COVERED NOVEL ZIC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000355497.1 1 2.407682 KEEP 0 0 0 8 271 CC 0.99257 0.882271 0 + 4 60 125 0 0 8.720818 37 60 1341 55 ENST00000282928.4 0.097561 0.888875 AGTR1 185 __UNKNOWN__ __UNKNOWN__ 3 148458707 148458707 __UNKNOWN__ Intron SNP G G T rs117577435 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:148458707G>T ENST00000497524.1 + 2 344 AGTR1_ENST00000418473.2_Intron|AGTR1_ENST00000404754.2_Intron|AGTR1_ENST00000402260.1_Intron|AGTR1_ENST00000542281.1_Intron|AGTR1_ENST00000475347.1_Intron|AGTR1_ENST00000461609.1_Intron|AGTR1_ENST00000474935.1_Intron|AGTR1_ENST00000349243.3_Intron NM_009585.3 NP_033611.1 P30556 AGTR1_HUMAN angiotensin II receptor, type 1 NA NA angiotensin-activated signaling pathway (GO:0038166)|calcium-mediated signaling (GO:0019722)|cell chemotaxis (GO:0060326)|G-protein coupled receptor signaling pathway (GO:0007186)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|phospholipase C-activating angiotensin-activated signaling pathway (GO:0086097)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of phospholipase A2 activity (GO:0032430)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|renin-angiotensin regulation of aldosterone production (GO:0002018)|Rho protein signal transduction (GO:0007266) integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) angiotensin type I receptor activity (GO:0001596)|angiotensin type II receptor activity (GO:0004945)|bradykinin receptor binding (GO:0031711)|protein heterodimerization activity (GO:0046982) breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152) Azilsartan medoxomil(DB08822)|Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177) ACTGAGAAATGAATGTTTGTT 0.284 NA G||| 37 0.00738818 0.0 0.0 5008 , , NA 17324 0.0367 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M87290 CCDS3137.1 3q24 2012-08-08 2002-02-20 ENSG00000144891 ENSG00000144891 185 GPCR / Class A : Angiotensin receptors 336 protein-coding gene gene with protein product 106165 angiotensin receptor 1B AGTR1B NA 1550596 Standard NM_009585 NA Approved AT1, AT2R1, AGTR1A, AT2R1A, HAT1R, AG2S, AT2R1B, AT1B uc003ewh.4 P30556 OTTHUMG00000159503 ENST00000497524.1:c.-47-69G>T chr3.hg19:g.148458707G>T NA Q13725|Q8TBK4 hg19 CCDS3137.1 0.02 11.357651 AATxAAT COVERED NOVEL AGTR1-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000355807.1 1 7.524423 KEEP 0 0 0 25 876 GG 0.999931 0.999931 0 + 13 60 455 0 0 27.769788 326 60 12281 369 ENST00000497524.1 0.038348 1 AGTR1 185 __UNKNOWN__ __UNKNOWN__ 3 148459395 148459395 __UNKNOWN__ Silent SNP C C T rs5182 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:148459395C>T ENST00000497524.1 + 2 964 c.573C>T c.(571-573)ctC>ctT p.L191L AGTR1_ENST00000418473.2_Silent_p.L191L|AGTR1_ENST00000404754.2_Silent_p.L191L|AGTR1_ENST00000402260.1_Silent_p.L191L|AGTR1_ENST00000542281.1_Silent_p.L191L|AGTR1_ENST00000475347.1_Silent_p.L191L|AGTR1_ENST00000461609.1_Silent_p.L191L|AGTR1_ENST00000474935.1_Silent_p.L191L|AGTR1_ENST00000349243.3_Silent_p.L191L NM_009585.3 NP_033611.1 P30556 AGTR1_HUMAN angiotensin II receptor, type 1 191 NA angiotensin-activated signaling pathway (GO:0038166)|calcium-mediated signaling (GO:0019722)|cell chemotaxis (GO:0060326)|G-protein coupled receptor signaling pathway (GO:0007186)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|phospholipase C-activating angiotensin-activated signaling pathway (GO:0086097)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of phospholipase A2 activity (GO:0032430)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|renin-angiotensin regulation of aldosterone production (GO:0002018)|Rho protein signal transduction (GO:0007266) integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) angiotensin type I receptor activity (GO:0001596)|angiotensin type II receptor activity (GO:0004945)|bradykinin receptor binding (GO:0031711)|protein heterodimerization activity (GO:0046982) breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152) Azilsartan medoxomil(DB08822)|Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177) ATTCAACCCTCCCGATAGGGC 0.398 NA C||| 2294 0.458067 0.1566 0.585 5008 , , NA 18816 0.6865 NA 0.492 False NA ,,, NA NA NA 2504 0.5051 NA NA NA NA 0 C ,,,, 951,3455 339.7+/-305.9 97,757,1349 64 70 68 573,573,573,573,573 1.7 1 3 dbSNP_52 68 4011,4589 543.9+/-384.5 917,2177,1206 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous AGTR1 NM_000685.4,NM_004835.3,NM_009585.3,NM_031850.2,NM_032049.2 ,,,, 1014,2934,2555 TT,TC,CC 46.6395,21.5842,38.1516 ,,,, 191/360,191/360,191/360,191/360,191/360 148459395 4962,8044 2203 4300 6503 SO:0001819 synonymous_variant M87290 CCDS3137.1 3q24 2012-08-08 2002-02-20 ENSG00000144891 ENSG00000144891 185 GPCR / Class A : Angiotensin receptors 336 protein-coding gene gene with protein product 106165 angiotensin receptor 1B AGTR1B NA 1550596 Standard NM_009585 NA Approved AT1, AT2R1, AGTR1A, AT2R1A, HAT1R, AG2S, AT2R1B, AT1B uc003ewh.4 P30556 OTTHUMG00000159503 ENST00000497524.1:c.573C>T chr3.hg19:g.148459395C>T NA Q13725|Q8TBK4 hg19 CCDS3137.1 0.02 12.976548 CCTxCCG COVERED NOVEL AGTR1-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000355807.1 2 6.121235 KEEP 0 3 81 49 1705 CC 1 1 0 + 21 60 759 0 0 52.130615 304 60 11328 447 ENST00000497524.1 0.064615 1 CPB1 1360 __UNKNOWN__ __UNKNOWN__ 3 148562425 148562425 __UNKNOWN__ Intron SNP C C G rs9835098 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:148562425C>G ENST00000491148.1 + 9 1021 CPB1_ENST00000282957.4_Intron P15086 CBPB1_HUMAN carboxypeptidase B1 (tissue) NA NA extracellular region (GO:0005576) carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270) NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 38 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) ACCAACGCCTCTCTATTATAT 0.448 NA C||| 998 0.199281 0.1679 0.2118 5008 , , NA 16085 0.249 NA 0.2306 False NA ,,, NA NA NA 2504 0.1493 NA NA NA NA 0 C 747,3659 307.2+/-289.9 68,611,1524 72 74 73 2.8 0 3 dbSNP_119 73 1980,6618 346.9+/-326.4 216,1548,2535 no intron CPB1 NM_001871.2 284,2159,4059 GG,GC,CC 23.0286,16.9542,20.9705 148562425 2727,10277 2203 4299 6502 SO:0001627 intron_variant AJ224866 CCDS33874.1 3q24 2012-02-10 ENSG00000153002 ENSG00000153002 1360 3.4.17.2 2299 protein-coding gene gene with protein product pancreatic carboxypeptidase B, tissue carboxypeptidase B, protaminase 114852 NA Standard NM_001871 XM_005247124 NA Approved uc003ewl.3 P15086 OTTHUMG00000159520 ENST00000491148.1:c.688-39C>G chr3.hg19:g.148562425C>G NA O60834|Q53XJ0|Q96BQ8 hg19 CCDS33874.1 0.02 16.293565 CCTxTCT COVERED NOVEL CPB1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000355928.1 1 20.764879 KEEP 0 0 0 69 2370 CC 1 1 0 + 13 60 497 0 0 31.507821 354 60 13371 492 ENST00000491148.1 0.035422 1 WWTR1 25937 __UNKNOWN__ __UNKNOWN__ 3 149235707 149235707 __UNKNOWN__ 3'UTR SNP A A G rs7640098 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:149235707A>G ENST00000465804.1 - 0 4344 NM_001168278.1 NP_001161750.1 Q9GZV5 WWTR1_HUMAN WW domain containing transcription regulator 1 NA NA cilium morphogenesis (GO:0060271)|gene expression (GO:0010467)|glomerulus development (GO:0032835)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of SMAD protein import into nucleus (GO:0060390)|regulation of transcription, DNA-templated (GO:0006355)|stem cell division (GO:0017145)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714) breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1) 23 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) GATGATGTTTACTGATTGATT 0.269 NA T CAMTA1 epitheliod hemangioendothelioma A||| 4101 0.81889 0.8003 0.8386 5008 , , NA 15031 0.8938 NA 0.8042 False NA ,,, NA NA NA 2504 0.7679 NA NA NA Dom yes 3 3q23-q24 607392 WW domain containing transcription regulator 1 M 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK022036 CCDS3144.1 3q23-q24 2004-12-03 ENSG00000018408 ENSG00000018408 25937 24042 protein-coding gene gene with protein product 607392 NA 11118213, 15096513 Standard NM_015472 NM_015472 NA Approved TAZ, DKFZp586I1419 uc021xfm.1 Q9GZV5 OTTHUMG00000159614 ENST00000465804.1:c.*2885T>C chr3.hg19:g.149235707A>G NA D3DNH7|Q8N3P2|Q9Y3W6 hg19 CCDS3144.1 0.02 7.293893 TTTxCTG COVERED NOVEL WWTR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000356498.1 1 17.682067 KEEP 0 1 29 69 2066 AA 1 1 0 - 12 60 459 0 0 33.255637 144 60 5108 276 ENST00000465804.1 0.076923 1 COMMD2 51122 __UNKNOWN__ __UNKNOWN__ 3 149456926 149456926 __UNKNOWN__ 3'UTR SNP A A G rs10935774 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:149456926A>G ENST00000473414.1 - 0 3036 NM_016094.3 NP_057178.2 Q86X83 COMD2_HUMAN COMM domain containing 2 NA NA NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|urinary_tract(1) 9 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) AAAAGCTTCAATAGAAATTTA 0.353 NA a||| 1988 0.396965 0.4115 0.3473 5008 , , NA 19588 0.3056 NA 0.4682 False NA ,,, NA NA NA 2504 0.4335 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY542158 CCDS3145.1 3q25.1 2004-02-20 ENSG00000114744 ENSG00000114744 51122 24993 protein-coding gene gene with protein product NA 15799966 Standard NM_016094 NM_016094 NA Approved HSPC042 uc003exj.2 Q86X83 OTTHUMG00000159616 ENST00000473414.1:c.*2382T>C chr3.hg19:g.149456926A>G NA Q561V4|Q9H3L5|Q9Y5V1 hg19 CCDS3145.1 0.02 9.833781 TCAxTAG COVERED NOVEL COMMD2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000356515.1 0 10.831925 KEEP 0 0 0 36 1142 AA 0.999999 0.999999 0 - 14 60 513 0 0 35.78612 192 60 7065 287 ENST00000473414.1 0.067961 1 COMMD2 51122 __UNKNOWN__ __UNKNOWN__ 3 149456995 149456995 __UNKNOWN__ 3'UTR SNP C C G rs10935775 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:149456995C>G ENST00000473414.1 - 0 2967 NM_016094.3 NP_057178.2 Q86X83 COMD2_HUMAN COMM domain containing 2 NA NA NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|urinary_tract(1) 9 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) CTGGAGAGAACAGTGACTACC 0.343 NA C||| 1359 0.271366 0.1566 0.2723 5008 , , NA 19649 0.252 NA 0.4155 False NA ,,, NA NA NA 2504 0.2975 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY542158 CCDS3145.1 3q25.1 2004-02-20 ENSG00000114744 ENSG00000114744 51122 24993 protein-coding gene gene with protein product NA 15799966 Standard NM_016094 NM_016094 NA Approved HSPC042 uc003exj.2 Q86X83 OTTHUMG00000159616 ENST00000473414.1:c.*2313G>C chr3.hg19:g.149456995C>G NA Q561V4|Q9H3L5|Q9Y5V1 hg19 CCDS3145.1 0.02 6.778525 GAAxAGT COVERED NOVEL COMMD2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000356515.1 1 7.259535 KEEP 0 1 34 36 1293 CC 1 1 0 - 13 60 475 0 0 33.17249 178 60 6784 290 ENST00000473414.1 0.068063 1 COMMD2 51122 __UNKNOWN__ __UNKNOWN__ 3 149459341 149459341 __UNKNOWN__ Silent SNP A A G rs7633238 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:149459341A>G ENST00000473414.1 - 5 621 c.567T>C c.(565-567)aaT>aaC p.N189N NM_016094.3 NP_057178.2 Q86X83 COMD2_HUMAN COMM domain containing 2 189 COMM. {ECO:0000255|PROSITE- ProRule:PRU00602}. NA NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|urinary_tract(1) 9 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) TCCTACAGTGATTTGTCTTCA 0.383 NA G||| 3905 0.779752 0.9675 0.6037 5008 , , NA 15326 0.8165 NA 0.673 False NA ,,, NA NA NA 2504 0.7229 NA NA NA NA 0 G 4067,339 175.9+/-205.1 1876,315,12 176 180 178 567 5.1 1 3 dbSNP_116 178 5909,2691 432.1+/-357.0 2020,1869,411 no coding-synonymous COMMD2 NM_016094.3 3896,2184,423 GG,GA,AA 31.2907,7.6941,23.2969 189/200 149459341 9976,3030 2203 4300 6503 SO:0001819 synonymous_variant AY542158 CCDS3145.1 3q25.1 2004-02-20 ENSG00000114744 ENSG00000114744 51122 24993 protein-coding gene gene with protein product NA 15799966 Standard NM_016094 NM_016094 NA Approved HSPC042 uc003exj.2 Q86X83 OTTHUMG00000159616 ENST00000473414.1:c.567T>C chr3.hg19:g.149459341A>G NA Q561V4|Q9H3L5|Q9Y5V1 hg19 CCDS3145.1 0.02 4.160508 GTGxTTT COVERED NOVEL COMMD2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000356515.1 1 3.782882 KEEP 0 2 73 38 1217 AA 1 1 0 - 14 60 497 0 0 36.185041 136 60 4868 219 ENST00000473414.1 0.093333 1 COMMD2 51122 __UNKNOWN__ __UNKNOWN__ 3 149468530 149468530 __UNKNOWN__ Missense_Mutation SNP T T G rs9843784 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:149468530T>G ENST00000473414.1 - 4 391 c.337A>C c.(337-339)Att>Ctt p.I113L NM_016094.3 NP_057178.2 Q86X83 COMD2_HUMAN COMM domain containing 2 113 NA I -> L (in dbSNP:rs9843784). {ECO:0000269|PubMed:11042152, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:15799966}. NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|urinary_tract(1) 9 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) TCACTCAGAATCGTTCTGATC 0.358 NA T||| 1197 0.239018 0.0446 0.268 5008 , , NA 16341 0.25 NA 0.4085 False NA ,,, NA NA NA 2504 0.2955 NA NA NA NA 0 T LEU/ILE 491,3915 229.4+/-244.0 30,431,1742 153 148 149 337 2.7 0.8 3 dbSNP_119 149 3641,4959 523.4+/-380.3 786,2069,1445 yes missense COMMD2 NM_016094.3 5 816,2500,3187 GG,GT,TT 42.3372,11.1439,31.77 benign 113/200 149468530 4132,8874 2203 4300 6503 SO:0001583 missense AY542158 CCDS3145.1 3q25.1 2004-02-20 ENSG00000114744 ENSG00000114744 51122 24993 protein-coding gene gene with protein product NA 15799966 Standard NM_016094 NM_016094 NA Approved HSPC042 uc003exj.2 Q86X83 OTTHUMG00000159616 ENST00000473414.1:c.337A>C chr3.hg19:g.149468530T>G ENSP00000419475:p.Ile113Leu NA Q561V4|Q9H3L5|Q9Y5V1 hg19 CCDS3145.1 0.02 13.076378 GAAxCGT COVERED 563 0.25778388278388276 21 0.042682926829268296 95 0.26243093922651933 130 0.22727272727272727 317 0.4182058047493404 T 14.86 2.662649 0.47572 0.111439 0.423372 ENSG00000114744 ENST00000473414 T 0.08634 3.07 5.36 2.7 0.31948 . 0.147086 0.64402 D 0.000009 T 0.00012 0.0000 L 0.46885 1.475 0.25896 P 0.9834196 B 0.16166 0.016 B 0.14578 0.011 T 0.47315 -0.9127 9 0.27785 T 0.31 -14.4315 11.8066 0.52158 0.0:0.0:0.2777:0.7223 rs9843784;rs17854390;rs52814071;rs59944079;rs9843784 113 Q86X83 COMD2_HUMAN L 113 ENSP00000419475:I113L ENSP00000419475:I113L I - 1 0 COMMD2 150951220 0.997000 0.39634 0.816000 0.32577 0.834000 0.47266 2.382000 0.44345 0.927000 0.37143 0.528000 0.53228 ATT NOVEL COMMD2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000356515.1 3 33.189998 KEEP 0 1 7 113 3629 TT 1 1 0 - 30 60 1180 0 0 91.465507 239 60 8786 509 ENST00000473414.1 0.111524 1 ANKUB1 389161 __UNKNOWN__ __UNKNOWN__ 3 149479301 149479301 __UNKNOWN__ Silent SNP C C T rs954714 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:149479301C>T ENST00000446160.1 - 6 2061 c.1605G>A c.(1603-1605)gcG>gcA p.A535A NM_001144960.1 NP_001138432.1 A6NFN9 ANKUB_HUMAN ankyrin repeat and ubiquitin domain containing 1 0 NA p.A535A(1) breast(1)|kidney(1)|lung(1)|skin(1) 4 AGTTTTCACACGCTGTCAGAC 0.408 NA T||| 2607 0.520567 0.6543 0.402 5008 , , NA 18894 0.5139 NA 0.4911 False NA ,,, NA NA NA 2504 0.4611 NA NA NA NA 1 Substitution - coding silent(1) kidney(1) 152 128 136 NA NA 3 NA 149479301 692 1591 2283 SO:0001819 synonymous_variant AK027233 3q25.1 2013-01-11 2011-05-10 2011-05-10 ENSG00000206199 ENSG00000206199 389161 Ankyrin repeat domain containing 29642 protein-coding gene gene with protein product chromosome 3 open reading frame 16 C3orf16 NA Standard NM_001144960 NM_001144960 NA Approved uc003exl.3 A6NFN9 OTTHUMG00000159615 ENST00000446160.1:c.1605G>A chr3.hg19:g.149479301C>T NA B4E2N8 hg19 0.02 9.092241 ACAxGCT COVERED NOVEL ANKUB1-202 KNOWN basic|appris_principal protein_coding NA protein_coding 1 11.36898 KEEP 0 1 32 49 1691 CC 1 1 0 - 21 60 795 0 0 58.363216 225 60 7990 368 ENST00000446160.1 0.085366 1 ANKUB1 389161 __UNKNOWN__ __UNKNOWN__ 3 149485293 149485293 __UNKNOWN__ Missense_Mutation SNP T T C rs7610425 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:149485293T>C ENST00000462519.2 - 5 1555 c.1156A>G c.(1156-1158)Agc>Ggc p.S386G ANKUB1_ENST00000446160.1_Missense_Mutation_p.S386G|ANKUB1_ENST00000383050.3_Missense_Mutation_p.S386G A6NFN9 ANKUB_HUMAN ankyrin repeat and ubiquitin domain containing 1 386 NA S -> G (in dbSNP:rs7610425). breast(1)|kidney(1)|lung(1)|skin(1) 4 GGTTTGCTGCTTGCAGTTTGT 0.458 NA T||| 1326 0.264776 0.1717 0.2579 5008 , , NA 19084 0.247 NA 0.3907 False NA ,,, NA NA NA 2504 0.2843 NA NA NA NA 0 T GLY/SER 285,1099 25,235,432 187 133 149 1156 -1.1 0 3 dbSNP_116 149 1266,1916 249,768,574 yes missense ANKUB1 NM_001144960.1 56 274,1003,1006 CC,CT,TT 39.7863,20.5925,33.9685 benign 386/545 149485293 1551,3015 692 1591 2283 SO:0001583 missense AK027233 3q25.1 2013-01-11 2011-05-10 2011-05-10 ENSG00000206199 ENSG00000206199 389161 Ankyrin repeat domain containing 29642 protein-coding gene gene with protein product chromosome 3 open reading frame 16 C3orf16 NA Standard NM_001144960 NM_001144960 NA Approved uc003exl.3 A6NFN9 OTTHUMG00000159615 ENST00000462519.2:c.1156A>G chr3.hg19:g.149485293T>C ENSP00000417635:p.Ser386Gly NA B4E2N8 hg19 0.02 22.122983 TGCxTGC COVERED 614 0.28113553113553114 88 0.17886178861788618 92 0.2541436464088398 123 0.21503496503496503 311 0.4102902374670185 T 11.33 1.607832 0.28623 0.205925 0.397863 ENSG00000206199 ENST00000446160;ENST00000383050;ENST00000462519 T;T;T 0.24908 1.86;1.83;1.86 5.6 -1.11 0.09840 . . . . . T 0.00012 0.0000 N 0.08118 0 0.80722 P 0.0 B;B 0.06786 0.001;0.001 B;B 0.08055 0.003;0.003 T 0.49113 -0.8973 8 0.22706 T 0.39 . 6.0018 0.19525 0.0:0.2809:0.126:0.593 rs7610425;rs17788044;rs52792421;rs57468189;rs7610425 386;386 A6NFN9;E9PHT4 ANKUB_HUMAN;. G 386 ENSP00000387907:S386G;ENSP00000372522:S386G;ENSP00000417635:S386G ENSP00000372522:S386G S - 1 0 ANKUB1 150967983 0.001000 0.12720 0.000000 0.03702 0.001000 0.01503 1.012000 0.29924 -0.423000 0.07394 -0.353000 0.07706 AGC NOVEL ANKUB1-001 NOVEL basic protein_coding NA protein_coding OTTHUMT00000356511.2 5 12.010514 KEEP 0 2 78 67 2192 TT 1 1 0 - 36 60 1330 0 0 95.678015 415 60 15206 618 ENST00000462519.2 0.079823 1 SERP1 27230 __UNKNOWN__ __UNKNOWN__ 3 150260853 150260853 __UNKNOWN__ 3'UTR SNP C C T rs10272 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:150260853C>T ENST00000479209.1 - 0 2865 SERP1_ENST00000239944.2_3'UTR Q9Y6X1 SERP1_HUMAN stress-associated endoplasmic reticulum protein 1 NA NA activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|endoplasmic reticulum unfolded protein response (GO:0030968)|glucose metabolic process (GO:0006006)|multicellular organismal aging (GO:0010259)|muscle organ morphogenesis (GO:0048644)|plasma membrane organization (GO:0007009)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of organ growth (GO:0046622)|positive regulation of translation (GO:0045727)|post-embryonic development (GO:0009791)|protein glycosylation (GO:0006486)|protein transport (GO:0015031)|response to stress (GO:0006950)|skeletal system development (GO:0001501) cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|ribosome (GO:0005840) large_intestine(1)|lung(3) 4 LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) GTGAGGTTCACGCTGTGTATA 0.408 NA C||| 1773 0.354034 0.1626 0.3631 5008 , , NA 19978 0.4861 NA 0.3579 False NA ,,, NA NA NA 2504 0.4663 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK125413 CCDS3150.1 3q25.1 2007-12-07 2007-12-07 ENSG00000120742 ENSG00000120742 27230 10759 protein-coding gene gene with protein product ribosome associated membrane protein 4 NA 10601334, 11230166 Standard NM_014445 NM_014445 NA Approved RAMP4, FLJ43424 uc003exy.3 Q9Y6X1 OTTHUMG00000159769 ENST00000479209.1:c.*1392G>A chr3.hg19:g.150260853C>T NA D3DNI6 hg19 CCDS3150.1 0.02 6.050497 TCAxGCT COVERED NOVEL SERP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000357239.1 2 17.455781 KEEP 0 0 0 58 2013 CC 1 1 0 - 6 60 218 0 0 13.187208 178 60 6127 283 ENST00000479209.1 0.032609 1 SERP1 27230 __UNKNOWN__ __UNKNOWN__ 3 150264003 150264003 __UNKNOWN__ 5'UTR SNP G G C rs1130834 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:150264003G>C ENST00000487153.1 - 0 285 SERP1_ENST00000239944.2_5'UTR|SERP1_ENST00000479209.1_5'UTR|SERP1_ENST00000491660.1_5'UTR Q9Y6X1 SERP1_HUMAN stress-associated endoplasmic reticulum protein 1 NA NA activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|endoplasmic reticulum unfolded protein response (GO:0030968)|glucose metabolic process (GO:0006006)|multicellular organismal aging (GO:0010259)|muscle organ morphogenesis (GO:0048644)|plasma membrane organization (GO:0007009)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of organ growth (GO:0046622)|positive regulation of translation (GO:0045727)|post-embryonic development (GO:0009791)|protein glycosylation (GO:0006486)|protein transport (GO:0015031)|response to stress (GO:0006950)|skeletal system development (GO:0001501) cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|ribosome (GO:0005840) large_intestine(1)|lung(3) 4 LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) TGCGAGGCTCGGCTCGTGGTG 0.721 NA G||| 1920 0.383387 0.2693 0.3703 5008 , , NA 12649 0.4861 NA 0.3588 False NA ,,, NA NA NA 2504 0.4663 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AK125413 CCDS3150.1 3q25.1 2007-12-07 2007-12-07 ENSG00000120742 ENSG00000120742 27230 10759 protein-coding gene gene with protein product ribosome associated membrane protein 4 NA 10601334, 11230166 Standard NM_014445 NM_014445 NA Approved RAMP4, FLJ43424 uc003exy.3 Q9Y6X1 OTTHUMG00000159769 ENST00000487153.1:c.-81C>G chr3.hg19:g.150264003G>C NA D3DNI6 hg19 0.02 10.891989 CTCxGCT COVERED NOVEL SERP1-009 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000357247.1 0 51.235594 KEEP 0 1 36 183 6279 GG 1 1 0 - 18 60 572 0 0 35.084364 329 60 11767 562 ENST00000487153.1 0.051873 1 SERP1 27230 __UNKNOWN__ __UNKNOWN__ 3 150264136 150264136 __UNKNOWN__ 5'UTR SNP G G A rs1049947 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:150264136G>A ENST00000487153.1 - 0 152 SERP1_ENST00000239944.2_5'UTR|SERP1_ENST00000479209.1_5'UTR|SERP1_ENST00000491660.1_5'UTR Q9Y6X1 SERP1_HUMAN stress-associated endoplasmic reticulum protein 1 NA NA activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|endoplasmic reticulum unfolded protein response (GO:0030968)|glucose metabolic process (GO:0006006)|multicellular organismal aging (GO:0010259)|muscle organ morphogenesis (GO:0048644)|plasma membrane organization (GO:0007009)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of organ growth (GO:0046622)|positive regulation of translation (GO:0045727)|post-embryonic development (GO:0009791)|protein glycosylation (GO:0006486)|protein transport (GO:0015031)|response to stress (GO:0006950)|skeletal system development (GO:0001501) cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|ribosome (GO:0005840) large_intestine(1)|lung(3) 4 LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) CTGACCGAGCGGGGCAGGTGC 0.726 NA G||| 1920 0.383387 0.2693 0.3703 5008 , , NA 12489 0.4861 NA 0.3588 False NA ,,, NA NA NA 2504 0.4663 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AK125413 CCDS3150.1 3q25.1 2007-12-07 2007-12-07 ENSG00000120742 ENSG00000120742 27230 10759 protein-coding gene gene with protein product ribosome associated membrane protein 4 NA 10601334, 11230166 Standard NM_014445 NM_014445 NA Approved RAMP4, FLJ43424 uc003exy.3 Q9Y6X1 OTTHUMG00000159769 ENST00000487153.1:c.-214C>T chr3.hg19:g.150264136G>A NA D3DNI6 hg19 0.02 10.243754 AGCxGGG COVERED NOVEL SERP1-009 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000357247.1 0 67.104792 KEEP 0 0 0 223 7434 GG 1 1 0 - 17 60 571 0 0 37.324616 267 60 8800 589 ENST00000487153.1 0.059859 1 EIF2A 83939 __UNKNOWN__ __UNKNOWN__ 3 150280445 150280445 __UNKNOWN__ Missense_Mutation SNP C C G rs1132979 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:150280445C>G ENST00000487799.1 + 3 333 c.215C>G c.(214-216)aCt>aGt p.T72S EIF2A_ENST00000406576.3_Missense_Mutation_p.T97S|EIF2A_ENST00000460851.1_Missense_Mutation_p.T97S|SERP1_ENST00000479209.1_Intron|EIF2A_ENST00000273435.5_Missense_Mutation_p.T92S Q9BY44 EIF2A_HUMAN eukaryotic translation initiation factor 2A, 65kDa 97 NA positive regulation of signal transduction (GO:0009967)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)|ribosome assembly (GO:0042255)|SREBP signaling pathway (GO:0032933) blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|eukaryotic translation initiation factor 2 complex (GO:0005850)|extracellular space (GO:0005615) ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)|tRNA binding (GO:0000049) p.T72S(1) cervix(1)|endometrium(2)|kidney(1)|lung(3) 7 Melanoma(1037;0.0575) LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) CAGCCTTACACTAGTAAGTAT 0.403 NA C||| 1774 0.354233 0.1611 0.3631 5008 , , NA 16648 0.4861 NA 0.3588 False NA ,,, NA NA NA 2504 0.4683 NA NA NA NA 1 Substitution - Missense(1) stomach(1) C SER/THR 631,3103 45,541,1281 67 61 63 290 5.9 1 3 dbSNP_86 63 2865,5335 508,1849,1743 yes missense EIF2A NM_032025.3 58 553,2390,3024 GG,GC,CC 34.939,16.8988,29.2945 benign 97/586 150280445 3496,8438 1867 4100 5967 SO:0001583 missense AF212241 CCDS46935.1 3q25.1 2011-01-19 2006-01-24 ENSG00000144895 ENSG00000144895 83939 3254 protein-coding gene gene with protein product 609234 NA 12133843, 1620067 Standard NM_032025 NM_032025 NA Approved EIF-2A uc003eya.3 Q9BY44 OTTHUMG00000159775 ENST00000487799.1:c.215C>G chr3.hg19:g.150280445C>G ENSP00000420537:p.Thr72Ser NA A8MPS6|B4DF96|B4DQ14|D3DNI9|Q5QTR2|Q7Z4E9|Q8NFM1|Q96EW9|Q96K81 hg19 0.02 11.655544 ACAxTAG COVERED 797 0.3649267399267399 90 0.18292682926829268 141 0.38950276243093923 287 0.5017482517482518 279 0.36807387862796836 C 13.40 2.226881 0.39399 0.168988 0.34939 ENSG00000144895 ENST00000487799;ENST00000460851;ENST00000406576;ENST00000482093;ENST00000273435 T;T;T;T;T 0.54071 0.9;0.9;0.59;0.9;0.9 5.86 5.86 0.93980 WD40/YVTN repeat-like-containing domain (1); 0.266752 0.40222 N 0.001157 T 0.00012 0.0000 N 0.05012 -0.13 0.09310 P 1.0 B;B;B 0.13145 0.007;0.001;0.004 B;B;B 0.12156 0.007;0.002;0.003 T 0.43228 -0.9404 9 0.10902 T 0.67 -6.8954 20.1894 0.98226 0.0:1.0:0.0:0.0 rs1132979;rs2049228;rs3194341;rs11537792;rs16862740;rs17418293;rs52804311;rs1132979 97;72;97 B4DF96;B4DQ14;Q9BY44 .;.;EIF2A_HUMAN S 72;97;97;97;92 ENSP00000420537:T72S;ENSP00000417229:T97S;ENSP00000385292:T97S;ENSP00000418698:T97S;ENSP00000273435:T92S ENSP00000273435:T92S T + 2 0 EIF2A 151763135 0.999000 0.42202 1.000000 0.80357 0.933000 0.57130 2.755000 0.47540 2.781000 0.95711 0.591000 0.81541 ACT NOVEL EIF2A-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000357260.2 4 23.175649 KEEP 0 0 0 77 2800 CC 1 1 0 + 12 60 456 0 0 29.762771 271 60 10308 447 ENST00000487799.1 0.042403 1 SERP1 27230 __UNKNOWN__ __UNKNOWN__ 3 150321015 150321015 __UNKNOWN__ 5'UTR SNP G G A rs2276759 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:150321015G>A ENST00000490945.1 - 0 0 SELT_ENST00000480740.1_Intron Q9Y6X1 SERP1_HUMAN stress-associated endoplasmic reticulum protein 1 NA NA activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|endoplasmic reticulum unfolded protein response (GO:0030968)|glucose metabolic process (GO:0006006)|multicellular organismal aging (GO:0010259)|muscle organ morphogenesis (GO:0048644)|plasma membrane organization (GO:0007009)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of organ growth (GO:0046622)|positive regulation of translation (GO:0045727)|post-embryonic development (GO:0009791)|protein glycosylation (GO:0006486)|protein transport (GO:0015031)|response to stress (GO:0006950)|skeletal system development (GO:0001501) cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|ribosome (GO:0005840) large_intestine(1)|lung(3) 4 LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) CGGGCGCCGGGCCGCGCAGGC 0.652 NA g||| 1805 0.360423 0.1619 0.3862 5008 , , NA 15672 0.502 NA 0.3569 False NA ,,, NA NA NA 2504 0.4683 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AK125413 CCDS3150.1 3q25.1 2007-12-07 2007-12-07 ENSG00000120742 ENSG00000120742 27230 10759 protein-coding gene gene with protein product ribosome associated membrane protein 4 NA 10601334, 11230166 Standard NM_014445 NM_014445 NA Approved RAMP4, FLJ43424 uc003exy.3 Q9Y6X1 OTTHUMG00000159769 ENST00000490945.1:c.-1596C>T chr3.hg19:g.150321015G>A NA D3DNI6 hg19 0.02 -0.296846 CGGxCCG COVERED NOVEL SERP1-005 KNOWN basic processed_transcript NA protein_coding OTTHUMT00000357243.1 0 4.513589 KEEP 0 0 0 15 514 GG 0.99649 0.778319 0 - 3 60 94 0 0 6.435057 31 60 1065 56 ENST00000490945.1 0.088235 0.78106 FAM194A 0 __UNKNOWN__ __UNKNOWN__ 3 150391810 150391810 __UNKNOWN__ Missense_Mutation SNP A A C rs73003074 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:150391810A>C ENST00000295910.6 - 11 1328 c.1276T>G c.(1276-1278)Tta>Gta p.L426V FAM194A_ENST00000491361.1_Missense_Mutation_p.L280V NM_152394.3 NP_689607.2 NA NA NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 TGCTTCTCTAAGAGCTCATTC 0.368 NA A||| 879 0.175519 0.267 0.1744 5008 , , NA 19262 0.1171 NA 0.1481 False NA ,,, NA NA NA 2504 0.1411 NA NA NA NA 0 A VAL/LEU 1039,3367 381.4+/-324.0 111,817,1275 138 133 135 1276 -2.1 0 3 dbSNP_130 135 1240,7360 248.7+/-276.3 92,1056,3152 yes missense FAM194A NM_152394.3 32 203,1873,4427 CC,CA,AA 14.4186,23.5815,17.5227 benign 426/664 150391810 2279,10727 2203 4300 6503 SO:0001583 missense NA NA NA NA ENST00000295910.6:c.1276T>G chr3.hg19:g.150391810A>C ENSP00000295910:p.Leu426Val NA hg19 CCDS3151.2 0.02 14.425422 CTAxGAG COVERED 385 0.1762820512820513 138 0.2804878048780488 59 0.16298342541436464 78 0.13636363636363635 110 0.14511873350923482 A 12.56 1.975122 0.34848 0.235815 0.144186 ENSG00000163645 ENST00000295910;ENST00000491361;ENST00000313811 T;T 0.12147 2.71;2.71 4.81 -2.1 0.07210 . 0.960065 0.08422 N 0.948220 T 0.00012 0.0000 L 0.47716 1.5 0.80722 P 0.0 P 0.49961 0.93 P 0.50162 0.633 T 0.41645 -0.9497 9 0.27785 T 0.31 -0.718 11.0114 0.47665 0.5098:0.0:0.4902:0.0 . 426 Q7L0X2 F194A_HUMAN V 426;280;384 ENSP00000295910:L426V;ENSP00000419366:L280V ENSP00000295910:L426V L - 1 2 FAM194A 151874500 0.002000 0.14202 0.001000 0.08648 0.511000 0.34104 -1.259000 0.02861 -0.275000 0.09219 0.460000 0.39030 TTA NOVEL FAM194A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257666.1 4 15.347294 KEEP 0 0 0 51 1673 AA 1 1 0 - 10 60 363 0 0 20.799534 388 60 14533 582 ENST00000295910.6 0.025126 1 CLRN1 7401 __UNKNOWN__ __UNKNOWN__ 3 150690439 150690439 __UNKNOWN__ Silent SNP T T A rs3796242 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:150690439T>A ENST00000327047.1 - 1 347 c.57A>T c.(55-57)gcA>gcT p.A19A CLRN1_ENST00000328863.4_Silent_p.A19A|RP11-166N6.2_ENST00000469268.1_RNA|CLRN1-AS1_ENST00000476886.1_RNA NM_174878.2 NP_777367.1 P58418 CLRN1_HUMAN clarin 1 19 NA actin filament organization (GO:0007015)|auditory receptor cell stereocilium organization (GO:0060088)|cell motility (GO:0048870)|equilibrioception (GO:0050957)|photoreceptor cell maintenance (GO:0045494)|positive regulation of lamellipodium assembly (GO:0010592)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601) integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|plasma membrane (GO:0005886) autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2) 14 LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) CGAGGGCACATGCAAAACTGA 0.522 NA T||| 669 0.133586 0.0825 0.1398 5008 , , NA 20015 0.2391 NA 0.1402 False NA ,,, NA NA NA 2504 0.0828 NA NA NA NA 0 T , 435,3971 211.5+/-231.7 19,397,1787 103 95 98 http://www.ncbi.nlm.nih.gov/sites/varvu?gene 57,57 -1.5 0.1 3 dbSNP_107 98 1021,7579 218.8+/-257.1 65,891,3344 no coding-synonymous,coding-synonymous CLRN1 NM_001195794.1,NM_174878.2 , 84,1288,5131 AA,AT,TT 11.8721,9.8729,11.1948 , 19/246,19/233 150690439 1456,11550 2203 4300 6503 SO:0001819 synonymous_variant AF388366 CCDS3153.1, CCDS35492.1, CCDS56285.1 3q25.1 2014-09-17 2006-11-23 2006-11-23 ENSG00000163646 ENSG00000163646 7401 12605 protein-coding gene gene with protein product 606397 Usher syndrome 3A USH3, USH3A, RP61 NA 7711740, 8975700 Standard NM_052995 NA Approved uc021xfr.1 P58418 OTTHUMG00000140368 ENST00000327047.1:c.57A>T chr3.hg19:g.150690439T>A NA D3DNJ3|E1ACU9|Q8N6A9 hg19 CCDS3153.1 0.02 19.885235 ACAxGCA COVERED NOVEL CLRN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000277060.1 4 20.733646 KEEP 0 0 0 69 2104 TT 1 1 0 - 13 60 478 0 0 28.222454 455 60 16837 637 ENST00000327047.1 0.027778 1 MED12L 116931 __UNKNOWN__ __UNKNOWN__ 3 150845795 150845795 __UNKNOWN__ Intron SNP C C G rs7427471 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:150845795C>G ENST00000474524.1 + 4 594 MED12L_ENST00000422248.2_Intron|MED12L_ENST00000309237.4_Intron|MED12L_ENST00000273432.4_Intron NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like NA NA mediator complex (GO:0016592) RNA polymerase II transcription cofactor activity (GO:0001104) NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TACAATACACCTTACATTTCA 0.408 NA C||| 1293 0.258187 0.3888 0.2176 5008 , , NA 19896 0.2629 NA 0.1839 False NA ,,, NA NA NA 2504 0.182 NA NA NA NA 0 C 1527,2879 483.7+/-359.8 262,1003,938 75 75 75 -1.2 0 3 dbSNP_116 75 1481,7119 280.8+/-294.7 134,1213,2953 no intron MED12L NM_053002.4 396,2216,3891 GG,GC,CC 17.2209,34.6573,23.1278 150845795 3008,9998 2203 4300 6503 SO:0001627 intron_variant AB046855, AF388364 CCDS33876.1 3q25.1 2007-07-30 2007-07-30 ENSG00000144893 ENSG00000144893 116931 16050 protein-coding gene gene with protein product 611318 mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like NA 11524702 Standard NM_053002 XM_006713487 NA Approved KIAA1635, TNRC11L, TRALPUSH, TRALP uc003eyp.3 Q86YW9 OTTHUMG00000159844 ENST00000474524.1:c.556+24C>G chr3.hg19:g.150845795C>G NA Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69 hg19 CCDS33876.1 0.02 6.099579 CACxTTA COVERED NOVEL MED12L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000357707.2 1 4.514591 KEEP 0 0 0 15 551 CC 0.99649 0.99649 0 + 6 60 219 0 0 13.542593 161 60 6126 195 ENST00000474524.1 0.035928 1 MED12L 116931 __UNKNOWN__ __UNKNOWN__ 3 150877934 150877934 __UNKNOWN__ Intron SNP A A G rs181217213 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:150877934A>G ENST00000474524.1 + 7 1145 MED12L_ENST00000422248.2_Intron|MED12L_ENST00000309237.4_Intron|MED12L_ENST00000273432.4_Intron NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like NA NA mediator complex (GO:0016592) RNA polymerase II transcription cofactor activity (GO:0001104) NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TCAATGTGGGAAGTGATTGAG 0.358 NA A||| 2 0.000399361 0.0 0.0 5008 , , NA 18404 0.002 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 45 46 46 NA NA 3 NA 150877934 2203 4300 6503 SO:0001627 intron_variant AB046855, AF388364 CCDS33876.1 3q25.1 2007-07-30 2007-07-30 ENSG00000144893 ENSG00000144893 116931 16050 protein-coding gene gene with protein product 611318 mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like NA 11524702 Standard NM_053002 XM_006713487 NA Approved KIAA1635, TNRC11L, TRALPUSH, TRALP uc003eyp.3 Q86YW9 OTTHUMG00000159844 ENST00000474524.1:c.1107+46A>G chr3.hg19:g.150877934A>G NA Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69 hg19 CCDS33876.1 0.02 2.127602 GGGxAGT COVERED NOVEL MED12L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000357707.2 0 2.707573 KEEP 0 0 0 9 268 AA 0.99254 0.992489 0 + 6 60 224 0 0 15.463792 92 60 3283 113 ENST00000474524.1 0.061224 0.999948 MED12L 116931 __UNKNOWN__ __UNKNOWN__ 3 150911405 150911405 __UNKNOWN__ Silent SNP T T C rs3732755 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:150911405T>C ENST00000474524.1 + 14 2135 c.2097T>C c.(2095-2097)taT>taC p.Y699Y MED12L_ENST00000422248.2_Silent_p.Y699Y|MED12L_ENST00000309237.4_Silent_p.Y734Y|MED12L_ENST00000273432.4_Silent_p.Y559Y NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 699 NA mediator complex (GO:0016592) RNA polymerase II transcription cofactor activity (GO:0001104) NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CATCTAATTATGACCTCCTTC 0.373 NA C||| 710 0.141773 0.2579 0.049 5008 , , NA 18675 0.2153 NA 0.0149 False NA ,,, NA NA NA 2504 0.1053 NA NA NA NA 0 C 1018,3388 728.6+/-410.0 125,768,1310 140 140 140 2097 -3.9 1 3 dbSNP_107 140 100,8500 814.7+/-407.0 0,100,4200 no coding-synonymous MED12L NM_053002.4 125,868,5510 CC,CT,TT 1.1628,23.1049,8.596 699/2146 150911405 1118,11888 2203 4300 6503 SO:0001819 synonymous_variant AB046855, AF388364 CCDS33876.1 3q25.1 2007-07-30 2007-07-30 ENSG00000144893 ENSG00000144893 116931 16050 protein-coding gene gene with protein product 611318 mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like NA 11524702 Standard NM_053002 XM_006713487 NA Approved KIAA1635, TNRC11L, TRALPUSH, TRALP uc003eyp.3 Q86YW9 OTTHUMG00000159844 ENST00000474524.1:c.2097T>C chr3.hg19:g.150911405T>C NA Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69 hg19 CCDS33876.1 0.02 32.679999 TTAxGAC COVERED 249 0.11401098901098901 107 0.21747967479674796 15 0.04143646408839779 117 0.20454545454545456 10 0.013192612137203167 C 8.490 0.861903 0.17178 0.231049 0.011628 ENSG00000144893 ENST00000480026 . . . 5.18 -3.91 0.04168 . . . . . . . . . . . 0.09310 P 0.9999999999999962 . . . . . . . . . . . . . -18.2088 15.0425 0.71803 0.0:0.4498:0.0:0.5502 rs3732755;rs3732755 . . . R 49 . . X + 1 0 MED12L 152394095 0.685000 0.27652 0.953000 0.39169 0.908000 0.53690 -0.358000 0.07641 -0.987000 0.03494 -0.826000 0.03091 TGA NOVEL MED12L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000357707.2 2 15.947155 KEEP 0 0 0 53 1652 TT 1 1 0 + 22 60 751 0 0 41.8876 814 60 30001 1069 ENST00000474524.1 0.026316 1 GPR171 29909 __UNKNOWN__ __UNKNOWN__ 3 150916327 150916327 __UNKNOWN__ Missense_Mutation SNP T T C rs3732756 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:150916327T>C ENST00000309180.5 - 3 1077 c.847A>G c.(847-849)Atc>Gtc p.I283V MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron NM_013308.3 NP_037440.3 O14626 GP171_HUMAN G protein-coupled receptor 171 283 NA I -> V (in dbSNP:rs3732756). {ECO:0000269|PubMed:15489334}. G-protein coupled receptor signaling pathway (GO:0007186) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1) 15 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TAGTACAGGATAGGATCAAAG 0.448 NA T||| 208 0.0415335 0.0212 0.0288 5008 , , NA 17001 0.1319 NA 0.0109 False NA ,,, NA NA NA 2504 0.0164 NA NA NA NA 0 T VAL/ILE, 91,4315 75.7+/-113.9 0,91,2112 85 85 85 847, 4.4 0.9 3 dbSNP_107 85 90,8510 51.5+/-111.7 0,90,4210 yes missense,intron GPR171,MED12L NM_013308.3,NM_053002.4 29, 0,181,6322 CC,CT,TT 1.0465,2.0654,1.3917 benign, 283/320, 150916327 181,12825 2203 4300 6503 SO:0001583 missense AF002986 CCDS3155.1 3q25.1 2012-08-21 ENSG00000174946 ENSG00000174946 29909 GPCR / Class A : Orphans 30057 protein-coding gene gene with protein product platelet activating receptor homolog NA 9370294 Standard NM_013308 NM_013308 NA Approved H963 uc003eyq.4 O14626 OTTHUMG00000159861 ENST00000309180.5:c.847A>G chr3.hg19:g.150916327T>C ENSP00000308479:p.Ile283Val NA D3DNJ4|Q8IV06 hg19 CCDS3155.1 0.02 12.765821 GGAxAGG COVERED 103 0.04716117216117216 8 0.016260162601626018 10 0.027624309392265192 77 0.1346153846153846 8 0.010554089709762533 T 10.92 1.488112 0.26686 0.020654 0.010465 ENSG00000174946 ENST00000309180 T 0.16196 2.36 5.61 4.42 0.53409 GPCR, rhodopsin-like superfamily (1); 0.149369 0.44902 D 0.000412 T 0.00109 0.0003 N 0.21373 0.66 0.38467 P 0.052624000000000004 B 0.25850 0.136 B 0.23852 0.049 T 0.30149 -0.9988 9 0.09338 T 0.73 -12.1944 8.8208 0.35025 0.1262:0.0:0.1321:0.7417 rs3732756;rs17846192;rs17859207;rs52801463;rs3732756 283 O14626 GP171_HUMAN V 283 ENSP00000308479:I283V ENSP00000308479:I283V I - 1 0 GPR171 152399017 0.167000 0.22975 0.885000 0.34714 0.992000 0.81027 0.458000 0.21892 0.899000 0.36444 0.528000 0.53228 ATC NOVEL GPR171-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000357793.1 2 15.345154 KEEP 0 0 0 51 1593 TT 1 1 0 - 10 60 376 0 0 22.684948 338 60 12229 487 ENST00000309180.5 0.028736 1 P2RY14 9934 __UNKNOWN__ __UNKNOWN__ 3 150930278 150930278 __UNKNOWN__ 3'UTR SNP C C T rs533480729 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:150930278C>T ENST00000309170.3 - 0 2139 MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron NM_001081455.1|NM_014879.3 NP_001074924.1|NP_055694.3 Q15391 P2Y14_HUMAN purinergic receptor P2Y, G-protein coupled, 14 NA NA G-protein coupled receptor signaling pathway (GO:0007186) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|UDP-activated nucleotide receptor activity (GO:0045029) breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1) 20 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GTCTTTTTCCCAGTCATCTTA 0.333 NA C||| 2 0.000399361 0.0 0.0 5008 , , NA 16326 0.002 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D13626 CCDS3156.1 3q21-q25 2012-08-08 2004-07-12 2004-07-14 ENSG00000174944 ENSG00000174944 9934 Purinergic receptors, GPCR / Class A : Purinergic receptors, P2Y 16442 protein-coding gene gene with protein product 610116 G protein-coupled receptor 105 GPR105 NA Standard NM_014879 NM_014879 NA Approved KIAA0001 uc003eys.1 Q15391 OTTHUMG00000159859 ENST00000309170.3:c.*810G>A chr3.hg19:g.150930278C>T NA Q8IYT7 hg19 CCDS3156.1 0.02 4.785055 TCCxAGT COVERED NOVEL P2RY14-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000357789.1 0 9.932703 KEEP 0 0 0 33 1194 CC 0.999998 0.999998 0 - 10 60 383 0 0 27.209683 137 60 5142 225 ENST00000309170.3 0.068027 1 MED12L 116931 __UNKNOWN__ __UNKNOWN__ 3 151102083 151102083 __UNKNOWN__ Intron SNP T T C rs3732766 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:151102083T>C ENST00000474524.1 + 33 4859 P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Intron NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like NA NA mediator complex (GO:0016592) RNA polymerase II transcription cofactor activity (GO:0001104) NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) AATTTATTACTCATTAAATGT 0.269 NA T||| 247 0.0493211 0.0091 0.1398 5008 , , NA 16048 0.1359 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB046855, AF388364 CCDS33876.1 3q25.1 2007-07-30 2007-07-30 ENSG00000144893 ENSG00000144893 116931 16050 protein-coding gene gene with protein product 611318 mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like NA 11524702 Standard NM_053002 XM_006713487 NA Approved KIAA1635, TNRC11L, TRALPUSH, TRALP uc003eyp.3 Q86YW9 OTTHUMG00000159844 ENST00000474524.1:c.4821+77T>C chr3.hg19:g.151102083T>C NA Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69 hg19 CCDS33876.1 0.02 6.007331 TACxCAT COVERED NOVEL MED12L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000357707.2 1 6.620755 KEEP 0 0 0 22 721 TT 0.999879 0.999879 0 + 7 60 254 0 0 15.745258 182 60 6424 224 ENST00000474524.1 0.037037 1 MED12L 116931 __UNKNOWN__ __UNKNOWN__ 3 151147968 151147968 __UNKNOWN__ Intron SNP C C T rs6772196 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:151147968C>T ENST00000474524.1 + 42 6341 MED12L_ENST00000273432.4_Intron NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like NA NA mediator complex (GO:0016592) RNA polymerase II transcription cofactor activity (GO:0001104) NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) ttgtcatagcccttttttcgt 0.443 NA C||| 1065 0.21266 0.1861 0.2104 5008 , , NA 20450 0.4137 NA 0.0915 False NA ,,, NA NA NA 2504 0.1677 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB046855, AF388364 CCDS33876.1 3q25.1 2007-07-30 2007-07-30 ENSG00000144893 ENSG00000144893 116931 16050 protein-coding gene gene with protein product 611318 mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like NA 11524702 Standard NM_053002 XM_006713487 NA Approved KIAA1635, TNRC11L, TRALPUSH, TRALP uc003eyp.3 Q86YW9 OTTHUMG00000159844 ENST00000474524.1:c.6304-119C>T chr3.hg19:g.151147968C>T NA Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69 hg19 CCDS33876.1 0.02 12.280546 AGCxCTT COVERED NOVEL MED12L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000357707.2 1 6.921203 KEEP 0 0 0 23 772 CC 0.999892 0.999892 0 + 18 60 686 0 0 48.180422 262 60 9506 350 ENST00000474524.1 0.064286 1 MED12L 116931 __UNKNOWN__ __UNKNOWN__ 3 151150422 151150422 __UNKNOWN__ Intron SNP C C T rs3732771 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:151150422C>T ENST00000474524.1 + 43 6423 MED12L_ENST00000273432.4_Intron NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like NA NA mediator complex (GO:0016592) RNA polymerase II transcription cofactor activity (GO:0001104) NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TAGTACTCTCCGGCCATTCTG 0.483 NA c||| 1063 0.21226 0.1891 0.2176 5008 , , NA 18328 0.3829 NA 0.0924 False NA ,,, NA NA NA 2504 0.1871 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB046855, AF388364 CCDS33876.1 3q25.1 2007-07-30 2007-07-30 ENSG00000144893 ENSG00000144893 116931 16050 protein-coding gene gene with protein product 611318 mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like NA 11524702 Standard NM_053002 XM_006713487 NA Approved KIAA1635, TNRC11L, TRALPUSH, TRALP uc003eyp.3 Q86YW9 OTTHUMG00000159844 ENST00000474524.1:c.6386-118C>T chr3.hg19:g.151150422C>T NA Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69 hg19 CCDS33876.1 0.02 13.489839 CTCxGGC COVERED NOVEL MED12L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000357707.2 0 12.941852 KEEP 0 0 0 43 1493 CC 1 1 0 + 23 60 852 0 0 60.526236 289 60 10446 415 ENST00000474524.1 0.073718 1 IGSF10 285313 __UNKNOWN__ __UNKNOWN__ 3 151151949 151151949 __UNKNOWN__ 3'UTR SNP T T G rs9857945 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:151151949T>G ENST00000282466.3 - 0 10399 MED12L_ENST00000474524.1_3'UTR NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 NA NA cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503) extracellular region (GO:0005576) NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TGATTTTACATATAATATAGT 0.294 NA T||| 1067 0.213059 0.1914 0.2176 5008 , , NA 15262 0.3839 NA 0.0924 False NA ,,, NA NA NA 2504 0.1871 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY273815 CCDS3160.1 3q25.1 2013-01-11 ENSG00000152580 ENSG00000152580 285313 Immunoglobulin superfamily / I-set domain containing 26384 protein-coding gene gene with protein product NA 12477932 Standard NM_178822 NM_178822 NA Approved FLJ25972, CMF608 uc011bod.2 Q6WRI0 OTTHUMG00000159856 ENST00000282466.3:c.*2528A>C chr3.hg19:g.151151949T>G NA Q86YJ9|Q8N772|Q8NA84 hg19 CCDS3160.1 0.02 1.997997 ACAxATA COVERED NOVEL IGSF10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000357782.1 0 2.708418 KEEP 0 0 0 9 288 TT 0.99254 0.992377 0 - 4 60 154 0 0 10.203501 86 60 3185 114 ENST00000282466.3 0.044444 0.999835 IGSF10 285313 __UNKNOWN__ __UNKNOWN__ 3 151153168 151153168 __UNKNOWN__ 3'UTR SNP A A T rs374554038|rs142774499|rs3975359|rs5853523 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:151153168A>T ENST00000282466.3 - 0 9180 MED12L_ENST00000474524.1_3'UTR NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 NA NA cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503) extracellular region (GO:0005576) NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) AGTAGAGGAGATCAATGCGTA 0.443 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY273815 CCDS3160.1 3q25.1 2013-01-11 ENSG00000152580 ENSG00000152580 285313 Immunoglobulin superfamily / I-set domain containing 26384 protein-coding gene gene with protein product NA 12477932 Standard NM_178822 NM_178822 NA Approved FLJ25972, CMF608 uc011bod.2 Q6WRI0 OTTHUMG00000159856 ENST00000282466.3:c.*1309T>A chr3.hg19:g.151153168A>T NA Q86YJ9|Q8N772|Q8NA84 hg19 CCDS3160.1 0.02 3.962684 GAGxTCA COVERED NOVEL IGSF10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000357782.1 0 7.221634 KEEP 0 0 0 24 748 AA 0.999909 0.999909 0 - 8 60 286 0 0 19.454892 119 60 4233 165 ENST00000282466.3 0.062992 1 IGSF10 285313 __UNKNOWN__ __UNKNOWN__ 3 151153179 151153179 __UNKNOWN__ 3'UTR SNP G G T rs3975345 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:151153179G>T ENST00000282466.3 - 0 9169 MED12L_ENST00000474524.1_3'UTR NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 NA NA cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503) extracellular region (GO:0005576) NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TCAATGCGTAGCTTTGACCAC 0.438 NA T||| 1062 0.212061 0.1884 0.2176 5008 , , NA 16995 0.3829 NA 0.0924 False NA ,,, NA NA NA 2504 0.1871 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY273815 CCDS3160.1 3q25.1 2013-01-11 ENSG00000152580 ENSG00000152580 285313 Immunoglobulin superfamily / I-set domain containing 26384 protein-coding gene gene with protein product NA 12477932 Standard NM_178822 NM_178822 NA Approved FLJ25972, CMF608 uc011bod.2 Q6WRI0 OTTHUMG00000159856 ENST00000282466.3:c.*1298C>A chr3.hg19:g.151153179G>T NA Q86YJ9|Q8N772|Q8NA84 hg19 CCDS3160.1 0.02 4.117768 GTAxCTT COVERED NOVEL IGSF10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000357782.1 0 8.126061 KEEP 0 0 0 27 949 GG 0.999988 0.999987 0 - 9 60 315 0 0 21.534315 123 60 4497 174 ENST00000282466.3 0.068182 1 IGSF10 285313 __UNKNOWN__ __UNKNOWN__ 3 151153260 151153260 __UNKNOWN__ 3'UTR SNP A A G rs6795918 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:151153260A>G ENST00000282466.3 - 0 9088 MED12L_ENST00000474524.1_3'UTR NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 NA NA cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503) extracellular region (GO:0005576) NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GATGGGGCTAACTGAAAGTCA 0.453 NA G||| 1063 0.21226 0.1884 0.2176 5008 , , NA 17710 0.3829 NA 0.0934 False NA ,,, NA NA NA 2504 0.1871 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY273815 CCDS3160.1 3q25.1 2013-01-11 ENSG00000152580 ENSG00000152580 285313 Immunoglobulin superfamily / I-set domain containing 26384 protein-coding gene gene with protein product NA 12477932 Standard NM_178822 NM_178822 NA Approved FLJ25972, CMF608 uc011bod.2 Q6WRI0 OTTHUMG00000159856 ENST00000282466.3:c.*1217T>C chr3.hg19:g.151153260A>G NA Q86YJ9|Q8N772|Q8NA84 hg19 CCDS3160.1 0.02 7.575929 CTAxCTG COVERED NOVEL IGSF10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000357782.1 1 9.929819 KEEP 0 0 0 33 1043 AA 0.999998 0.999998 0 - 12 60 455 0 0 32.794116 146 60 5212 235 ENST00000282466.3 0.075949 1 IGSF10 285313 __UNKNOWN__ __UNKNOWN__ 3 151153293 151153293 __UNKNOWN__ 3'UTR SNP C C G rs6771502 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:151153293C>G ENST00000282466.3 - 0 9055 MED12L_ENST00000474524.1_3'UTR NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 NA NA cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503) extracellular region (GO:0005576) NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CCCAAGGGCGCTATTCCACAT 0.428 NA C||| 1062 0.212061 0.1884 0.2176 5008 , , NA 17798 0.3829 NA 0.0924 False NA ,,, NA NA NA 2504 0.1871 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY273815 CCDS3160.1 3q25.1 2013-01-11 ENSG00000152580 ENSG00000152580 285313 Immunoglobulin superfamily / I-set domain containing 26384 protein-coding gene gene with protein product NA 12477932 Standard NM_178822 NM_178822 NA Approved FLJ25972, CMF608 uc011bod.2 Q6WRI0 OTTHUMG00000159856 ENST00000282466.3:c.*1184G>C chr3.hg19:g.151153293C>G NA Q86YJ9|Q8N772|Q8NA84 hg19 CCDS3160.1 0.02 6.625868 GCGxTAT COVERED NOVEL IGSF10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000357782.1 4 9.029792 KEEP 0 0 0 30 1096 CC 0.999997 0.999997 0 - 11 60 406 0 0 27.404358 187 60 7046 273 ENST00000282466.3 0.055556 1 IGSF10 285313 __UNKNOWN__ __UNKNOWN__ 3 151155758 151155758 __UNKNOWN__ Silent SNP A A C rs9864533 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:151155758A>C ENST00000282466.3 - 6 6590 c.6591T>G c.(6589-6591)tcT>tcG p.S2197S IGSF10_ENST00000495443.1_5'UTR NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 2197 Ig-like C2-type 8. NA cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503) extracellular region (GO:0005576) NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TGATGGTCAAAGACCCATTGG 0.443 NA A||| 1035 0.206669 0.1868 0.2089 5008 , , NA 22739 0.3819 NA 0.0924 False NA ,,, NA NA NA 2504 0.1687 NA NA NA NA 0 A ,, 688,3718 289.2+/-280.3 53,582,1568 110 107 108 672,528,6591 3.3 0.9 3 dbSNP_119 108 655,7945 166.7+/-218.6 27,601,3672 no coding-synonymous,coding-synonymous,coding-synonymous IGSF10 NM_001178145.1,NM_001178146.1,NM_178822.4 ,, 80,1183,5240 CC,CA,AA 7.6163,15.6151,10.326 ,, 224/651,176/603,2197/2624 151155758 1343,11663 2203 4300 6503 SO:0001819 synonymous_variant AY273815 CCDS3160.1 3q25.1 2013-01-11 ENSG00000152580 ENSG00000152580 285313 Immunoglobulin superfamily / I-set domain containing 26384 protein-coding gene gene with protein product NA 12477932 Standard NM_178822 NM_178822 NA Approved FLJ25972, CMF608 uc011bod.2 Q6WRI0 OTTHUMG00000159856 ENST00000282466.3:c.6591T>G chr3.hg19:g.151155758A>C NA Q86YJ9|Q8N772|Q8NA84 hg19 CCDS3160.1 0.02 16.317629 CAAxGAC COVERED NOVEL IGSF10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000357782.1 3 23.762946 KEEP 0 0 0 79 2513 AA 1 1 0 - 15 60 527 0 0 31.587869 417 60 15301 612 ENST00000282466.3 0.034722 1 IGSF10 285313 __UNKNOWN__ __UNKNOWN__ 3 151161428 151161428 __UNKNOWN__ Silent SNP T T C rs77247199 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:151161428T>C ENST00000282466.3 - 5 5306 c.5307A>G c.(5305-5307)gcA>gcG p.A1769A NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 1769 Ig-like C2-type 4. NA cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503) extracellular region (GO:0005576) NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GCCTACCTTCTGCTCTGCACT 0.512 NA T||| 67 0.0133786 0.0 0.0101 5008 , , NA 20267 0.0585 NA 0.001 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 T 1,4405 2.1+/-5.4 0,1,2202 138 120 126 5307 -10.3 0.2 3 dbSNP_131 126 7,8593 5.7+/-21.5 0,7,4293 no coding-synonymous IGSF10 NM_178822.4 0,8,6495 CC,CT,TT 0.0814,0.0227,0.0615 1769/2624 151161428 8,12998 2203 4300 6503 SO:0001819 synonymous_variant AY273815 CCDS3160.1 3q25.1 2013-01-11 ENSG00000152580 ENSG00000152580 285313 Immunoglobulin superfamily / I-set domain containing 26384 protein-coding gene gene with protein product NA 12477932 Standard NM_178822 NM_178822 NA Approved FLJ25972, CMF608 uc011bod.2 Q6WRI0 OTTHUMG00000159856 ENST00000282466.3:c.5307A>G chr3.hg19:g.151161428T>C NA Q86YJ9|Q8N772|Q8NA84 hg19 CCDS3160.1 0.02 10.322975 TTCxGCT COVERED NOVEL IGSF10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000357782.1 3 17.45281 KEEP 0 0 0 58 1846 TT 1 1 0 - 11 60 386 0 0 24.209845 242 60 8887 373 ENST00000282466.3 0.043478 1 SUCNR1 56670 __UNKNOWN__ __UNKNOWN__ 3 151599684 151599684 __UNKNOWN__ 3'UTR SNP C C A rs73168929 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:151599684C>A ENST00000362032.5 + 0 1458 RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA NM_033050.4 NP_149039.2 Q9BXA5 SUCR1_HUMAN succinate receptor 1 NA NA extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 14 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) Succinic acid(DB00139) GCAACATTCTCTATGTTATTC 0.294 NA C||| 326 0.0650958 0.0015 0.0346 5008 , , NA 17260 0.2282 NA 0.0408 False NA ,,, NA NA NA 2504 0.0297 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF348078 CCDS3162.1 3q25.1 2012-08-21 2004-07-08 2004-07-09 ENSG00000198829 ENSG00000198829 56670 GPCR / Class A : Orphans 4542 protein-coding gene gene with protein product 606381 G protein-coupled receptor 91 GPR91 NA 11273702, 15141213, 17192395 Standard NM_033050 NM_033050 NA Approved uc003ezf.2 Q9BXA5 OTTHUMG00000159880 ENST00000362032.5:c.*348C>A chr3.hg19:g.151599684C>A NA A8K305|Q8TDQ8 hg19 CCDS3162.1 0.02 -0.403571 TCTxTAT COVERED NOVEL SUCNR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000357897.2 0 2.708863 KEEP 0 0 0 9 322 CC 0.99254 0.927521 0 + 4 60 147 0 0 10.830039 39 60 1504 58 ENST00000362032.5 0.093023 0.934492 TMEM14E 645843 __UNKNOWN__ __UNKNOWN__ 3 152058344 152058344 __UNKNOWN__ Missense_Mutation SNP A A G rs141123012 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:152058344A>G ENST00000408960.3 - 1 435 c.350T>C c.(349-351)aTg>aCg p.M117T MBNL1_ENST00000282488.7_Intron|MBNL1_ENST00000545754.1_Intron|MBNL1_ENST00000355460.2_Intron|MBNL1_ENST00000493459.1_Intron|MBNL1_ENST00000463374.1_Intron|MBNL1_ENST00000485509.1_Intron|MBNL1_ENST00000498502.1_Intron|MBNL1_ENST00000357472.3_Intron|MBNL1_ENST00000282486.6_Intron|MBNL1_ENST00000324210.5_Intron|MBNL1_ENST00000324196.5_Intron|MBNL1_ENST00000492948.1_Intron|MBNL1_ENST00000485910.1_Intron NM_001123228.1 NP_001116700.1 Q6UXP3 TM14E_HUMAN transmembrane protein 14E 117 NA integral component of membrane (GO:0016021) lung(1) 1 AAGCTGAGACATAGCTACAAC 0.368 NA A||| 30 0.00599042 0.0008 0.0216 5008 , , NA 19093 0.0139 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 A ,,,,,,,THR/MET 5,3131 0,5,1563 89 85 86 ,,,,,,,350 1.8 0 3 dbSNP_134 86 1,7163 0,1,3581 yes intron,intron,intron,intron,intron,intron,intron,missense MBNL1,TMEM14E NM_021038.3,NM_207292.1,NM_207293.1,NM_207294.1,NM_207295.1,NM_207296.1,NM_207297.1,NM_001123228.1 ,,,,,,,81 0,6,5144 GG,GA,AA 0.014,0.1594,0.0583 ,,,,,,,benign ,,,,,,,117/126 152058344 6,10294 1568 3582 5150 SO:0001583 missense CCDS43161.1 3q25.1 2011-09-15 ENSG00000221962 ENSG00000221962 645843 34386 protein-coding gene gene with protein product NA Standard NM_001123228 NM_001123228 NA Approved uc010hvo.3 Q6UXP3 OTTHUMG00000159652 ENST00000408960.3:c.350T>C chr3.hg19:g.152058344A>G ENSP00000386163:p.Met117Thr NA hg19 CCDS43161.1 0.02 31.640124 GACxTAG COVERED 17 0.007783882783882784 1 0.0020325203252032522 9 0.024861878453038673 7 0.012237762237762238 0 0.0 A 0.424 -0.907030 0.02434 0.001594 1.4E-4 ENSG00000221962 ENST00000408960 T 0.33216 1.42 1.82 1.82 0.25136 . . . . . T 0.06781 0.0173 N 0.08118 0 0.09310 N 1 B 0.15719 0.014 B 0.08055 0.003 T 0.17531 -1.0366 9 0.33940 T 0.23 . 5.6506 0.17614 1.0:0.0:0.0:0.0 . 117 Q6UXP3 TM14E_HUMAN T 117 ENSP00000386163:M117T ENSP00000386163:M117T M - 2 0 TMEM14E 153541034 0.000000 0.05858 0.001000 0.08648 0.001000 0.01503 -1.596000 0.02091 1.078000 0.41014 0.477000 0.44152 ATG NOVEL TMEM14E-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000356703.1 9 44.535971 KEEP 0 0 0 148 4722 AA 1 1 0 - 37 60 1266 0 0 78.400447 804 60 29835 1225 ENST00000408960.3 0.043995 1 C3orf79 152118 __UNKNOWN__ __UNKNOWN__ 3 153203925 153203925 __UNKNOWN__ Intron SNP C C T rs56196219 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:153203925C>T ENST00000446603.2 + 2 285 RP11-23D24.2_ENST00000493214.2_RNA NM_001101337.1 NP_001094807.1 P0CE67 CC079_HUMAN chromosome 3 open reading frame 79 NA NA endometrium(1)|large_intestine(3) 4 gagatttaagcaaagtgtttt 0.398 NA C||| 528 0.105431 0.27 0.0605 5008 , , NA 17204 0.0893 NA 0.001 False NA ,,, NA NA NA 2504 0.0389 NA NA NA NA 0 C 718,2928 62,594,1167 41 39 40 0.2 0 3 dbSNP_129 40 24,8120 0,24,4048 no intron C3orf79 NM_001101337.1 62,618,5215 TT,TC,CC 0.2947,19.6928,6.2935 153203925 742,11048 1823 4072 5895 SO:0001627 intron_variant AF086445 CCDS46937.1 3q25.2 2009-09-30 ENSG00000237787 ENSG00000237787 152118 37259 protein-coding gene gene with protein product NA Standard NM_001101337 NM_001101337 NA Approved uc003ezt.3 P0CE67 OTTHUMG00000159629 ENST00000446603.2:c.223+31C>T chr3.hg19:g.153203925C>T NA hg19 CCDS46937.1 0.02 8.292564 AAGxAAA COVERED NOVEL C3orf79-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000356570.1 0 9.631694 KEEP 0 0 0 32 1152 CC 0.999997 0.999997 0 + 10 60 364 0 0 23.675108 202 60 7772 295 ENST00000446603.2 0.04717 1 ARHGEF26 26084 __UNKNOWN__ __UNKNOWN__ 3 153973408 153973408 __UNKNOWN__ 3'UTR SNP T T C rs3172332 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:153973408T>C ENST00000356448.4 + 0 3046 ARHGEF26_ENST00000483068.1_3'UTR|ARHGEF26_ENST00000465093.1_3'UTR|ARHGEF26_ENST00000465817.1_Intron NM_001251962.1 NP_001238891.1 Q96DR7 ARHGQ_HUMAN Rho guanine nucleotide exchange factor (GEF) 26 NA NA endothelial cell morphogenesis (GO:0001886)|ruffle assembly (GO:0097178) cell projection (GO:0042995) Rho guanyl-nucleotide exchange factor activity (GO:0005089) endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 23 CAGGTTGTTCTGCTCTCTCAT 0.433 NA T||| 1228 0.245208 0.1036 0.2262 5008 , , NA 19327 0.1488 NA 0.3668 False NA ,,, NA NA NA 2504 0.4243 NA NA NA GBM(163;191 2003 24758 29593 48540)|Ovarian(152;631 1885 20165 22910 51013) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC016628 CCDS46938.1, CCDS58858.1 3q25.2 2013-01-10 ENSG00000114790 ENSG00000114790 26084 Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing 24490 protein-coding gene gene with protein product Src homology 3 domain-containing guanine nucleotide exchange factor NA 15133129, 12697679 Standard NM_015595 NM_015595 NA Approved DKFZP434D146, SGEF uc021xgc.1 Q96DR7 OTTHUMG00000159098 ENST00000356448.4:c.*146T>C chr3.hg19:g.153973408T>C NA B3KVP8|E9PBD0|Q68CL1|Q6AZ96|Q6Q8Q8|Q96AW8|Q96DR6|Q9H9D7|Q9H9R2|Q9UFW5 hg19 CCDS46938.1 0.02 10.012181 TTCxGCT COVERED NOVEL ARHGEF26-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000353287.3 2 5.851755 KEEP 0 1 36 32 992 TT 0.999998 0.999998 0 + 18 60 588 0 0 38.494561 259 60 9465 318 ENST00000356448.4 0.064982 1 DHX36 170506 __UNKNOWN__ __UNKNOWN__ 3 154018690 154018690 __UNKNOWN__ Intron SNP G G A rs3732652 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:154018690G>A ENST00000496811.1 - 10 1439 DHX36_ENST00000544526.1_Intron|DHX36_ENST00000329463.5_Intron|DHX36_ENST00000308361.6_Intron NM_020865.2 NP_065916.2 Q9H2U1 DHX36_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 36 NA NA ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351) chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634) ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212) endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1) 35 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) CTTTAAGTACGTACAGATTCA 0.393 NA G||| 1221 0.24381 0.1233 0.2219 5008 , , NA 16921 0.1478 NA 0.3569 False NA ,,, NA NA NA 2504 0.4049 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF217190 CCDS3171.1, CCDS54657.1 3q25.2 2012-09-20 2003-06-13 2003-06-20 ENSG00000174953 ENSG00000174953 170506 DEAH-boxes 14410 protein-coding gene gene with protein product 612767 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36 DDX36 NA Standard NM_020865 NM_020865 NA Approved MLEL1, KIAA1488 uc003ezy.4 Q9H2U1 OTTHUMG00000159109 ENST00000496811.1:c.1358+85C>T chr3.hg19:g.154018690G>A NA B2RB00|Q70JU3|Q8IYE5|Q9P240 hg19 CCDS3171.1 0.02 8.144707 TACxTAC COVERED NOVEL DHX36-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000353349.1 1 12.471737 KEEP 0 1 27 51 1677 GG 1 1 0 - 7 60 257 0 0 15.452551 222 60 7489 323 ENST00000496811.1 0.030568 1 SLC33A1 9197 __UNKNOWN__ __UNKNOWN__ 3 155545431 155545431 __UNKNOWN__ 3'UTR SNP C C A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:155545431C>A ENST00000392845.3 - 0 2598 SLC33A1_ENST00000359479.3_Intron O00400 ACATN_HUMAN solute carrier family 33 (acetyl-CoA transporter), member 1 NA NA acetyl-CoA transport (GO:0015876)|cell death (GO:0008219)|transmembrane transport (GO:0055085)|transport (GO:0006810) endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020) acetyl-CoA transporter activity (GO:0008521) endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 22 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) AACACAGATTCATTTGtacaa 0.219 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D88152 CCDS3173.1 3q25.31 2013-05-22 2002-12-06 ENSG00000169359 ENSG00000169359 9197 Solute carriers 95 protein-coding gene gene with protein product 603690 acetyl-Coenzyme A transporter, spastic paraplegia 42 (autosomal dominant) ACATN, SPG42 NA 9096318, 19061983 Standard NM_004733 NM_004733 NA Approved AT-1, AT1 uc003fao.2 O00400 OTTHUMG00000158481 ENST00000392845.3:c.*568G>T chr3.hg19:g.155545431C>A NA B2R5Q2|D3DNK4 hg19 CCDS3173.1 0.02 5.944938 ATTxATT COVERED NOVEL SLC33A1-002 KNOWN alternative_3_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000351130.3 0 10.835033 KEEP 0 0 0 36 1261 CC 0.999999 0.999999 0 - 8 60 287 0 0 18.008717 188 60 7068 275 ENST00000392845.3 0.040816 1 SLC33A1 9197 __UNKNOWN__ __UNKNOWN__ 3 155551206 155551206 __UNKNOWN__ Intron SNP C C T rs7649631 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:155551206C>T ENST00000392845.3 - 4 1647 SLC33A1_ENST00000359479.3_Intron O00400 ACATN_HUMAN solute carrier family 33 (acetyl-CoA transporter), member 1 NA NA acetyl-CoA transport (GO:0015876)|cell death (GO:0008219)|transmembrane transport (GO:0055085)|transport (GO:0006810) endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020) acetyl-CoA transporter activity (GO:0008521) endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 22 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) AGCTGTCTTCCTTATTTTACA 0.323 NA T||| 2388 0.476837 0.7844 0.4337 5008 , , NA 16418 0.3155 NA 0.2883 False NA ,,, NA NA NA 2504 0.4519 NA NA NA NA 0 T , 2909,1495 981,947,274 49 59 56 , 3.3 0 3 dbSNP_116 56 2383,6217 328,1727,2245 no intron,intron SLC33A1 NM_001190992.1,NM_004733.3 , 1309,2674,2519 TT,TC,CC 27.7093,33.9464,40.6952 , , 155551206 5292,7712 2202 4300 6502 SO:0001627 intron_variant D88152 CCDS3173.1 3q25.31 2013-05-22 2002-12-06 ENSG00000169359 ENSG00000169359 9197 Solute carriers 95 protein-coding gene gene with protein product 603690 acetyl-Coenzyme A transporter, spastic paraplegia 42 (autosomal dominant) ACATN, SPG42 NA 9096318, 19061983 Standard NM_004733 NM_004733 NA Approved AT-1, AT1 uc003fao.2 O00400 OTTHUMG00000158481 ENST00000392845.3:c.1266+50G>A chr3.hg19:g.155551206C>T NA B2R5Q2|D3DNK4 hg19 CCDS3173.1 0.02 6.525728 TTCxTTA COVERED NOVEL SLC33A1-002 KNOWN alternative_3_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000351130.3 2 6.621155 KEEP 0 0 0 22 755 CC 0.999879 0.999879 0 - 10 60 349 0 0 23.386577 154 60 5445 206 ENST00000392845.3 0.060976 1 KCNAB1 7881 __UNKNOWN__ __UNKNOWN__ 3 156249151 156249151 __UNKNOWN__ Intron SNP C C T rs9681788 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:156249151C>T ENST00000302490.8 + 13 1898 KCNAB1_ENST00000389634.5_Intron|KCNAB1_ENST00000471742.1_Intron|KCNAB1_ENST00000490337.1_Intron|KCNAB1_ENST00000497291.1_Intron|KCNAB1_ENST00000389636.5_Intron NM_172159.3 NP_751891.1 Q14722 KCAB1_HUMAN potassium voltage-gated channel, shaker-related subfamily, beta member 1 NA NA learning or memory (GO:0007611)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|synaptic transmission (GO:0007268) cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249) breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) AGCTAATCAACGATTGGAAGT 0.443 NA t||| 453 0.0904553 0.1899 0.013 5008 , , NA 22263 0.125 NA 0.001 False NA ,,, NA NA NA 2504 0.0675 NA NA NA NA 0 ,, 680,3726 762.0+/-413.1 59,562,1582 129 120 123 ,, -3.9 0 3 dbSNP_119 123 10,8590 818.9+/-406.8 0,10,4290 no intron,intron,intron KCNAB1 NM_003471.3,NM_172159.3,NM_172160.2 ,, 59,572,5872 TT,TC,CC 0.1163,15.4335,5.3052 ,, ,, 156249151 690,12316 2203 4300 6503 SO:0001627 intron_variant U33428 CCDS3174.1, CCDS3175.1, CCDS33882.1 3q26.1 2006-11-29 ENSG00000169282 ENSG00000169282 7881 Potassium channels, Aldo-keto reductases 6228 protein-coding gene gene with protein product 601141 NA 8838324, 7499366 Standard NM_003471 NM_172160 NA Approved AKR6A3, KCNA1B, hKvBeta3, Kvb1.3, hKvb3 uc003far.2 Q14722 OTTHUMG00000158552 ENST00000302490.8:c.1028-47C>T chr3.hg19:g.156249151C>T NA A8K9H8|A8KAD4|B3KPZ4|Q13031|Q13302|Q16547|Q6PI60|Q99869 hg19 CCDS33882.1 0.02 11.253455 CAAxGAT COVERED NOVEL KCNAB1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000351265.1 1 27.083729 KEEP 0 0 0 90 3054 CC 1 1 0 + 10 60 363 0 0 22.497155 262 60 9370 445 ENST00000302490.8 0.036765 1 SSR3 6747 __UNKNOWN__ __UNKNOWN__ 3 156271595 156271595 __UNKNOWN__ Intron SNP G G A rs2292337 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:156271595G>A ENST00000467789.1 - 2 193 SSR3_ENST00000265044.2_Intron|SSR3_ENST00000496050.1_Intron|SSR3_ENST00000476217.1_Intron|SSR3_ENST00000463503.1_Intron Q9UNL2 SSRG_HUMAN signal sequence receptor, gamma (translocon-associated protein gamma) NA NA cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412) integral component of endoplasmic reticulum membrane (GO:0030176)|Sec61 translocon complex (GO:0005784) endometrium(1)|prostate(2) 3 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) AAGGGGGAAGGGTACAAAAAG 0.378 NA A||| 1104 0.220447 0.1914 0.1585 5008 , , NA 18542 0.3393 NA 0.1481 False NA ,,, NA NA NA 2504 0.2556 NA NA NA NA 0 A 733,3673 749.6+/-412.0 61,611,1531 45 42 43 -5.5 0 3 dbSNP_100 43 1058,7542 766.9+/-407.6 62,934,3304 no intron SSR3 NM_007107.3 123,1545,4835 AA,AG,GG 12.3023,16.6364,13.7706 156271595 1791,11215 2203 4300 6503 SO:0001627 intron_variant BC017203 CCDS3176.1 3q25.31 2004-02-27 ENSG00000114850 ENSG00000114850 6747 11325 protein-coding gene gene with protein product 606213 NA Standard NM_007107 NM_007107 NA Approved TRAPG uc003fau.3 Q9UNL2 OTTHUMG00000158632 ENST00000467789.1:c.134-25C>T chr3.hg19:g.156271595G>A NA B2R7D0|B4E2P2|D3DNK5|Q549M4 hg19 0.02 17.551755 AAGxGTA COVERED NOVEL SSR3-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000351522.1 4 50.971879 KEEP 0 3 93 202 7273 GG 1 1 0 - 11 60 413 0 0 24.232944 428 60 16076 838 ENST00000467789.1 0.025057 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 156385733 156385733 __UNKNOWN__ IGR SNP C C T rs56128116 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:156385733C>T NA NA SSR3 (112760 upstream) : TIPARP-AS1 (3917 downstream) NA NA NA taccaaaatccgtggatgctc 0.403 NA C||| 373 0.0744808 0.1346 0.0764 5008 , , NA 16341 0.0288 NA 0.0984 False NA ,,, NA NA NA 2504 0.0143 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.156385733C>T NA hg19 0.02 -0.377231 ATCxGTG COVERED NOVEL 0 0 4.197556 KEEP 0 0 0 14 451 CC 0.99649 0.905878 0 3 60 119 0 0 8.606697 40 60 1421 75 0.069767 0.909069 VEPH1 79674 __UNKNOWN__ __UNKNOWN__ 3 157188378 157188378 __UNKNOWN__ Intron SNP C C T rs1011060 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:157188378C>T ENST00000362010.2 - 3 446 VEPH1_ENST00000543418.1_Intron|VEPH1_ENST00000468233.1_Intron|VEPH1_ENST00000537559.1_Intron|VEPH1_ENST00000392832.2_Intron|VEPH1_ENST00000494677.1_Intron|VEPH1_ENST00000392833.2_Intron NM_001167912.1 NP_001161384.1 Q14D04 MELT_HUMAN ventricular zone expressed PH domain-containing 1 NA NA plasma membrane (GO:0005886) autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) CTTCAAAGGACAAAATACTAa 0.378 NA C||| 2156 0.430511 0.6921 0.4294 5008 , , NA 20431 0.3909 NA 0.327 False NA ,,, NA NA NA 2504 0.2249 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL713656 CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1 3q24-q25 2013-01-10 2012-12-10 ENSG00000197415 ENSG00000197415 79674 Pleckstrin homology (PH) domain containing 25735 protein-coding gene gene with protein product 609594 ventricular zone expressed PH domain homolog 1 (zebrafish) NA 11214970, 15388229 Standard NM_024621 NM_024621 NA Approved FLJ12604, KIAA1692 uc003fbk.2 Q14D04 OTTHUMG00000158711 ENST00000362010.2:c.139-60G>A chr3.hg19:g.157188378C>T NA D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7 hg19 CCDS3179.1 0.02 12.732608 GGAxAAA COVERED NOVEL VEPH1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000351845.3 3 7.223475 KEEP 0 0 0 24 847 CC 0.999909 0.999909 0 - 20 60 725 0 0 49.285366 310 70 11855 367 ENST00000362010.2 0.060606 1 C3orf55 0 __UNKNOWN__ __UNKNOWN__ 3 157287342 157287342 __UNKNOWN__ 3'UTR SNP A A G rs12489204 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:157287342A>G ENST00000468043.1 + 0 524 C3orf55_ENST00000461040.1_Intron|C3orf55_ENST00000426338.2_Intron|C3orf55_ENST00000498159.1_3'UTR|C3orf55_ENST00000449199.2_Intron|C3orf55_ENST00000312275.5_Intron|C3orf55_ENST00000459838.1_Intron A1A4F0 CC055_HUMAN NA NA breast(1)|lung(1) 2 Lung(72;0.0215)|LUSC - Lung squamous cell carcinoma(72;0.037) ATACTGTAGCATGATTATAGA 0.388 NA A||| 1039 0.207468 0.1778 0.3314 5008 , , NA 14040 0.2113 NA 0.2237 False NA ,,, NA NA NA 2504 0.1391 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant NA NA NA NA ENST00000468043.1:c.*228A>G chr3.hg19:g.157287342A>G NA C9JP04|C9JXB5|Q8N6Q6 hg19 0.02 13.401992 AGCxTGA COVERED NOVEL C3orf55-006 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000352021.1 1 7.222277 KEEP 0 0 0 24 762 AA 0.999909 0.999909 0 + 17 60 609 0 0 40.124085 305 60 11242 393 ENST00000468043.1 0.052795 1 MFSD1 64747 __UNKNOWN__ __UNKNOWN__ 3 158543702 158543702 __UNKNOWN__ Intron SNP A A G rs149573144 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:158543702A>G ENST00000264266.8 + 14 1350 MFSD1_ENST00000392813.4_Intron|MFSD1_ENST00000415822.2_Intron Q9H3U5 MFSD1_HUMAN major facilitator superfamily domain containing 1 NA NA transmembrane transport (GO:0055085) integral component of membrane (GO:0016021) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1) 26 Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523) aGCAATTAATAAAGGTTTGAT 0.289 NA A||| 13 0.00259585 0.0 0.0 5008 , , NA 15639 0.0129 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA Pancreas(62;1186 1654 36636 37908) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC017661 CCDS3185.1, CCDS3185.2, CCDS54666.1 3q25.32 2005-11-17 ENSG00000118855 ENSG00000118855 64747 25874 protein-coding gene gene with protein product NA Standard NM_022736 NM_022736 NA Approved FLJ14153, UG0581B09 uc003fcl.2 Q9H3U5 OTTHUMG00000158835 ENST00000264266.8:c.1289-102A>G chr3.hg19:g.158543702A>G NA B4DGJ8|B4DMR8|B4DU49|B4DWU1|C9JS94|J3KQL7|Q05C07|Q5XKJ1|Q8IVS1|Q8IXG4|Q9H7X1 hg19 0.02 2.064912 AATxAAG COVERED NOVEL MFSD1-018 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000470730.1 0 4.513309 KEEP 0 0 0 15 470 AA 0.99649 0.993663 0 + 4 60 152 0 0 10.425954 67 60 2378 99 ENST00000264266.8 0.056338 0.997163 IQCJ-SCHIP1 100505385 __UNKNOWN__ __UNKNOWN__ 3 158991553 158991553 __UNKNOWN__ Intron SNP C C G rs3732847 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:158991553C>G ENST00000485419.1 + 4 460 IQCJ-SCHIP1_ENST00000412423.2_5'UTR|IQCJ-SCHIP1_ENST00000527095.1_5'UTR|IQCJ-SCHIP1_ENST00000467442.1_Intron|IQCJ-SCHIP1_ENST00000337808.6_5'UTR|IQCJ-SCHIP1_ENST00000476809.1_Intron NM_001197113.1 NP_001184042.1 IQCJ-SCHIP1 readthrough NA NA central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7) 12 TCTTTCAAAGCCAATTTGAAT 0.438 NA C||| 245 0.0489217 0.0015 0.0 5008 , , NA 17925 0.2361 NA 0.0 False NA ,,, NA NA NA 2504 0.0051 NA NA NA NA 0 82 79 80 NA NA 3 NA 158991553 692 1591 2283 SO:0001627 intron_variant CCDS56289.1, CCDS56291.1 3q25.33 2011-03-24 ENSG00000250588 ENSG00000250588 100505385 38842 other readthrough NA Standard NM_001197113 NM_001197113 NA Approved uc003fcq.2 OTTHUMG00000162426 ENST00000485419.1:c.291+11081C>G chr3.hg19:g.158991553C>G NA hg19 CCDS56289.1 0.02 31.141238 AAGxCAA COVERED NOVEL IQCJ-SCHIP1-001 KNOWN basic|appris_candidate_longest|readthrough_transcript|CCDS protein_coding NA protein_coding OTTHUMT00000368858.1 5 17.455074 KEEP 0 0 0 58 2062 CC 1 1 0 + 25 60 914 0 0 56.260522 692 60 25859 948 ENST00000485419.1 0.034868 1 SCHIP1 29970 __UNKNOWN__ __UNKNOWN__ 3 159557953 159557953 __UNKNOWN__ 3'UTR SNP T T C rs13064339 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:159557953T>C ENST00000483730.1 + 0 105 SCHIP1_ENST00000445224.2_5'UTR|IQCJ-SCHIP1_ENST00000476809.1_Intron|IQCJ-SCHIP1_ENST00000527095.1_Intron|IQCJ-SCHIP1_ENST00000412423.2_Intron|IQCJ-SCHIP1_ENST00000485419.1_Intron|IQCJ-SCHIP1_ENST00000337808.6_Intron|IQCJ-SCHIP1_ENST00000460298.1_Intron Q9P0W5 SCHI1_HUMAN schwannomin interacting protein 1 NA NA cytoplasm (GO:0005737) identical protein binding (GO:0042802) breast(1)|central_nervous_system(2)|large_intestine(3)|lung(5)|ovary(1)|skin(2) 14 LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534) CGTTGGGGTCTGCGCCCTAGG 0.617 NA T||| 485 0.096845 0.0348 0.1023 5008 , , NA 17323 0.0724 NA 0.169 False NA ,,, NA NA NA 2504 0.1278 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF070614 CCDS3186.1, CCDS56292.1, CCDS56293.1, CCDS56294.1 3q25.32-q25.33 2013-09-23 2001-11-29 ENSG00000151967 ENSG00000151967 29970 15678 protein-coding gene gene with protein product schwannomin interacting protein 1 variant 2, schwannomin interacting protein 1 variant 1 schwannomin-interacting protein 1 NA 10669747, 8619474, 17045569 Standard NM_014575 NM_014575 NA Approved SCHIP-1 Q9P0W5 ENST00000483730.1:c.*102T>C chr3.hg19:g.159557953T>C NA B3KRM0|O75543|Q00P30|Q00P31|Q7Z3Y3|Q8IY83|Q9P0W3|Q9P0W4 hg19 0.02 7.944213 GTCxGCG COVERED NOVEL SCHIP1-013 PUTATIVE basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000352569.1 5 27.08308 KEEP 0 0 0 90 2876 TT 1 1 0 + 10 60 352 0 0 22.233438 214 60 7884 392 ENST00000483730.1 0.044643 1 IL12A-AS1 101928376 __UNKNOWN__ __UNKNOWN__ 3 159820488 159820488 __UNKNOWN__ RNA SNP C C T rs6778335 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:159820488C>T ENST00000497452.1 - 0 517 IL12A antisense RNA 1 NA NA NA TTCCTTCCCCCGTCATGGAAA 0.443 NA C||| 473 0.0944489 0.1074 0.0375 5008 , , NA 19046 0.1002 NA 0.0318 False NA ,,, NA NA NA 2504 0.1759 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AK097161 3q25.33 2013-09-02 ENSG00000244040 ENSG00000244040 101928376 Long non-coding RNAs 49094 non-coding RNA RNA, long non-coding NA Standard NR_108088 NA Approved OTTHUMG00000158951 ENST00000497452.1: chr3.hg19:g.159820488C>T NA hg19 0.02 12.227913 CCCxGTC COVERED NOVEL IL12A-AS1-001 KNOWN basic antisense NA antisense OTTHUMT00000352647.1 2 9.3301 KEEP 0 0 0 31 1074 CC 0.999997 0.999997 0 - 17 60 655 1 0 45.617683 269 60 9726 347 ENST00000497452.1 0.059441 1 SMC4 10051 __UNKNOWN__ __UNKNOWN__ 3 160141147 160141147 __UNKNOWN__ Intron SNP G G T rs376994195|rs373799882|rs200586188|rs377046074|rs373841488|rs4679884|rs372679543|rs374118241 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:160141147G>T ENST00000357388.3 + 14 2470 SMC4_ENST00000360111.2_Intron|SMC4_ENST00000344722.5_Intron|SMC4_ENST00000462787.1_Intron|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000469762.1_Intron NM_001002800.1 NP_001002800.1 Q9NTJ3 SMC4_HUMAN structural maintenance of chromosomes 4 NA NA kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070) condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982) breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) gtttttttttgtttttTTTTT 0.289 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF092564 CCDS3189.1, CCDS75046.1 3q26.1 2006-07-06 2006-07-06 2006-07-06 ENSG00000113810 ENSG00000113810 10051 Structural maintenance of chromosomes proteins 14013 protein-coding gene gene with protein product 605575 SMC4 (structural maintenance of chromosomes 4, yeast)-like 1, SMC4 structural maintenance of chromosomes 4-like 1 (yeast) SMC4L1 NA 9789013, 10319587 Standard NM_005496 NA Approved hCAP-C, CAP-C uc003fdh.3 Q9NTJ3 OTTHUMG00000159006 ENST00000357388.3:c.2020-66G>T chr3.hg19:g.160141147G>T NA A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9 hg19 CCDS3189.1 0.02 -0.190286 TTTxTTT COVERED NOVEL SMC4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000352862.1 0 2.708518 KEEP 0 0 0 9 307 GG 0.99254 0.454342 0 + 5 60 188 2 0 16.103489 17 60 587 32 ENST00000357388.3 0.227273 0.457757 PPM1L 151742 __UNKNOWN__ __UNKNOWN__ 3 160788697 160788697 __UNKNOWN__ 3'UTR SNP G G T rs2279107 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:160788697G>T ENST00000498165.1 + 0 2936 PPM1L_ENST00000464260.1_3'UTR NM_139245.2 NP_640338.2 Q5SGD2 PPM1L_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1L NA NA MAPK cascade (GO:0000165)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178) endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722) breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 13 Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216) ACTGCACTGAGAATTGCTAAT 0.368 NA G||| 452 0.0902556 0.0015 0.1614 5008 , , NA 20077 0.3284 NA 0.003 False NA ,,, NA NA NA 2504 0.0041 NA NA NA Pancreas(86;250 1994 13715 43211) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK055115 CCDS33886.1 3q26.1 2012-04-17 2010-03-05 ENSG00000163590 ENSG00000163590 151742 3.1.3.16 Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent 16381 protein-coding gene gene with protein product PP2Cepsilon, Protein phosphatase 2C epsilon isoform 611931 protein phosphatase 1 (formerly 2C)-like NA 12556533 Standard NM_139245 XM_006713507 NA Approved PP2CE uc003fdr.3 Q5SGD2 OTTHUMG00000159048 ENST00000498165.1:c.*1752G>T chr3.hg19:g.160788697G>T NA Q2M3J2|Q96NM7 hg19 CCDS33886.1 0.02 13.54232 TGAxAAT COVERED NOVEL PPM1L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000353019.1 0 12.339793 KEEP 0 0 0 41 1418 GG 1 1 0 + 12 60 441 0 0 27.850095 294 60 11203 409 ENST00000498165.1 0.039216 1 PPM1L 151742 __UNKNOWN__ __UNKNOWN__ 3 160789673 160789673 __UNKNOWN__ 3'UTR SNP T T C rs145898233 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:160789673T>C ENST00000498165.1 + 0 3912 NM_139245.2 NP_640338.2 Q5SGD2 PPM1L_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1L NA NA MAPK cascade (GO:0000165)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178) endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722) breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 13 Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216) TAAGCAGCACTGCCAAAGCTT 0.488 NA T||| 102 0.0203674 0.0061 0.0072 5008 , , NA 17765 0.0208 NA 0.0239 False NA ,,, NA NA NA 2504 0.045 NA NA NA Pancreas(86;250 1994 13715 43211) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK055115 CCDS33886.1 3q26.1 2012-04-17 2010-03-05 ENSG00000163590 ENSG00000163590 151742 3.1.3.16 Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent 16381 protein-coding gene gene with protein product PP2Cepsilon, Protein phosphatase 2C epsilon isoform 611931 protein phosphatase 1 (formerly 2C)-like NA 12556533 Standard NM_139245 XM_006713507 NA Approved PP2CE uc003fdr.3 Q5SGD2 OTTHUMG00000159048 ENST00000498165.1:c.*2728T>C chr3.hg19:g.160789673T>C NA Q2M3J2|Q96NM7 hg19 CCDS33886.1 0.02 8.283973 CACxGCC COVERED NOVEL PPM1L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000353019.1 3 11.432406 KEEP 0 0 0 38 1166 TT 1 1 0 + 17 60 566 0 0 38.981363 196 60 7232 295 ENST00000498165.1 0.079812 1 PPM1L 151742 __UNKNOWN__ __UNKNOWN__ 3 160791797 160791797 __UNKNOWN__ 3'UTR SNP T T C rs721657 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:160791797T>C ENST00000498165.1 + 0 6036 NM_139245.2 NP_640338.2 Q5SGD2 PPM1L_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1L NA NA MAPK cascade (GO:0000165)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178) endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722) breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 13 Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216) ttcattactatatgatattta 0.229 NA T||| 1363 0.272165 0.2753 0.3285 5008 , , NA 14446 0.3135 NA 0.2097 False NA ,,, NA NA NA 2504 0.2495 NA NA NA Pancreas(86;250 1994 13715 43211) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK055115 CCDS33886.1 3q26.1 2012-04-17 2010-03-05 ENSG00000163590 ENSG00000163590 151742 3.1.3.16 Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent 16381 protein-coding gene gene with protein product PP2Cepsilon, Protein phosphatase 2C epsilon isoform 611931 protein phosphatase 1 (formerly 2C)-like NA 12556533 Standard NM_139245 XM_006713507 NA Approved PP2CE uc003fdr.3 Q5SGD2 OTTHUMG00000159048 ENST00000498165.1:c.*4852T>C chr3.hg19:g.160791797T>C NA Q2M3J2|Q96NM7 hg19 CCDS33886.1 0.02 -0.254426 CTAxATG COVERED NOVEL PPM1L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000353019.1 0 3.308135 KEEP 0 0 0 11 311 TT 0.993072 0.663892 0 + 5 60 192 0 0 15.796345 24 60 883 43 ENST00000498165.1 0.172414 0.668523 PPM1L 151742 __UNKNOWN__ __UNKNOWN__ 3 160793678 160793678 __UNKNOWN__ 3'UTR SNP C C G rs12107243 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:160793678C>G ENST00000498165.1 + 0 7917 NM_139245.2 NP_640338.2 Q5SGD2 PPM1L_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1L NA NA MAPK cascade (GO:0000165)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178) endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722) breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 13 Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216) ATTTATTGCTCTCCTCAACAC 0.383 NA G||| 1649 0.329273 0.4902 0.3458 5008 , , NA 18203 0.2897 NA 0.2097 False NA ,,, NA NA NA 2504 0.2638 NA NA NA Pancreas(86;250 1994 13715 43211) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK055115 CCDS33886.1 3q26.1 2012-04-17 2010-03-05 ENSG00000163590 ENSG00000163590 151742 3.1.3.16 Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent 16381 protein-coding gene gene with protein product PP2Cepsilon, Protein phosphatase 2C epsilon isoform 611931 protein phosphatase 1 (formerly 2C)-like NA 12556533 Standard NM_139245 XM_006713507 NA Approved PP2CE uc003fdr.3 Q5SGD2 OTTHUMG00000159048 ENST00000498165.1:c.*6733C>G chr3.hg19:g.160793678C>G NA Q2M3J2|Q96NM7 hg19 CCDS33886.1 0.02 4.296455 GCTxTCC COVERED NOVEL PPM1L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000353019.1 4 3.91206 KEEP 0 0 0 13 438 CC 0.994391 0.99439 0 + 6 60 219 0 0 14.356179 117 60 4440 147 ENST00000498165.1 0.04878 0.999999 PPM1L 151742 __UNKNOWN__ __UNKNOWN__ 3 160795541 160795541 __UNKNOWN__ 3'UTR SNP A A C rs16831868 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:160795541A>C ENST00000498165.1 + 0 9780 NM_139245.2 NP_640338.2 Q5SGD2 PPM1L_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1L NA NA MAPK cascade (GO:0000165)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178) endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722) breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 13 Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216) TACTTTACACATTCCAGAGTC 0.284 NA A||| 1300 0.259585 0.2254 0.3199 5008 , , NA 16912 0.3175 NA 0.2097 False NA ,,, NA NA NA 2504 0.2546 NA NA NA Pancreas(86;250 1994 13715 43211) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK055115 CCDS33886.1 3q26.1 2012-04-17 2010-03-05 ENSG00000163590 ENSG00000163590 151742 3.1.3.16 Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent 16381 protein-coding gene gene with protein product PP2Cepsilon, Protein phosphatase 2C epsilon isoform 611931 protein phosphatase 1 (formerly 2C)-like NA 12556533 Standard NM_139245 XM_006713507 NA Approved PP2CE uc003fdr.3 Q5SGD2 OTTHUMG00000159048 ENST00000498165.1:c.*8596A>C chr3.hg19:g.160795541A>C NA Q2M3J2|Q96NM7 hg19 CCDS33886.1 0.02 7.321536 CACxTTC COVERED NOVEL PPM1L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000353019.1 0 11.13289 KEEP 0 0 0 37 1145 AA 1 1 0 + 11 60 395 0 0 26.588178 176 60 6518 261 ENST00000498165.1 0.058824 1 PPM1L 151742 __UNKNOWN__ __UNKNOWN__ 3 160796354 160796354 __UNKNOWN__ 3'UTR SNP G G C rs1045448 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:160796354G>C ENST00000498165.1 + 0 10593 NM_139245.2 NP_640338.2 Q5SGD2 PPM1L_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1L NA NA MAPK cascade (GO:0000165)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178) endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722) breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 13 Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216) ATACAACAAGGCTTGGCGAAA 0.338 NA C||| 1539 0.307308 0.3843 0.3401 5008 , , NA 18677 0.2976 NA 0.2237 False NA ,,, NA NA NA 2504 0.2761 NA NA NA Pancreas(86;250 1994 13715 43211) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK055115 CCDS33886.1 3q26.1 2012-04-17 2010-03-05 ENSG00000163590 ENSG00000163590 151742 3.1.3.16 Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent 16381 protein-coding gene gene with protein product PP2Cepsilon, Protein phosphatase 2C epsilon isoform 611931 protein phosphatase 1 (formerly 2C)-like NA 12556533 Standard NM_139245 XM_006713507 NA Approved PP2CE uc003fdr.3 Q5SGD2 OTTHUMG00000159048 ENST00000498165.1:c.*9409G>C chr3.hg19:g.160796354G>C NA Q2M3J2|Q96NM7 hg19 CCDS33886.1 0.02 8.366772 AAGxCTT COVERED NOVEL PPM1L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000353019.1 2 8.427484 KEEP 0 0 0 28 996 GG 0.999997 0.999997 0 + 8 60 292 0 0 18.181471 207 60 7644 296 ENST00000498165.1 0.037209 1 B3GALNT1 8706 __UNKNOWN__ __UNKNOWN__ 3 160802353 160802353 __UNKNOWN__ 3'UTR SNP T T C rs35599916 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:160802353T>C ENST00000392781.2 - 0 2937 B3GALNT1_ENST00000320474.4_3'UTR|B3GALNT1_ENST00000392779.2_3'UTR|B3GALNT1_ENST00000392780.1_3'UTR NM_001038628.1 NP_001033717.1 O75752 B3GL1_HUMAN beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group) NA NA oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486) Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity (GO:0047273)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499) breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 13 LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05) CCCTTTGACCTACTATTAGCA 0.363 NA T||| 1174 0.234425 0.2194 0.2118 5008 , , NA 17587 0.2649 NA 0.2157 False NA ,,, NA NA NA 2504 0.2587 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Y15062 CCDS3193.1 3q25 2014-07-18 2006-06-14 2006-05-09 ENSG00000169255 ENSG00000169255 8706 2.4.1.79 Blood group antigens, Beta 3-glycosyltransferases 918 protein-coding gene gene with protein product globoside synthase, P antigen synthase 603094 UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 3 (Globoside blood group), UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 1 (Globoside blood group) B3GALT3 NA 9582303, 10993897 Standard NM_033167 XM_005247861 NA Approved beta3Gal-T3, galT3, P1, GLOB uc003fdv.3 O75752 OTTHUMG00000159064 ENST00000392781.2:c.*1194A>G chr3.hg19:g.160802353T>C NA D3DNM4|Q3Y531|Q6IAI5|Q8NFM8|Q8NFM9|Q9HA06 hg19 CCDS3193.1 0.02 4.820048 ACCxACT COVERED NOVEL B3GALNT1-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000353125.1 0 4.813359 KEEP 0 0 0 16 497 TT 0.997832 0.997832 0 - 8 60 308 0 0 21.226915 135 60 4982 189 ENST00000392781.2 0.055944 1 B3GALNT1 8706 __UNKNOWN__ __UNKNOWN__ 3 160802418 160802418 __UNKNOWN__ 3'UTR SNP C C T rs35440670 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:160802418C>T ENST00000392781.2 - 0 2872 B3GALNT1_ENST00000320474.4_3'UTR|B3GALNT1_ENST00000392779.2_3'UTR|B3GALNT1_ENST00000392780.1_3'UTR NM_001038628.1 NP_001033717.1 O75752 B3GL1_HUMAN beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group) NA NA oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486) Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity (GO:0047273)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499) breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 13 LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05) TCTATAAAAGCACAAAATTTA 0.373 NA C||| 1174 0.234425 0.2186 0.2118 5008 , , NA 16643 0.2659 NA 0.2157 False NA ,,, NA NA NA 2504 0.2587 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Y15062 CCDS3193.1 3q25 2014-07-18 2006-06-14 2006-05-09 ENSG00000169255 ENSG00000169255 8706 2.4.1.79 Blood group antigens, Beta 3-glycosyltransferases 918 protein-coding gene gene with protein product globoside synthase, P antigen synthase 603094 UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 3 (Globoside blood group), UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 1 (Globoside blood group) B3GALT3 NA 9582303, 10993897 Standard NM_033167 XM_005247861 NA Approved beta3Gal-T3, galT3, P1, GLOB uc003fdv.3 O75752 OTTHUMG00000159064 ENST00000392781.2:c.*1129G>A chr3.hg19:g.160802418C>T NA D3DNM4|Q3Y531|Q6IAI5|Q8NFM8|Q8NFM9|Q9HA06 hg19 CCDS3193.1 0.02 6.268574 AAGxACA COVERED NOVEL B3GALNT1-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000353125.1 2 4.348372 KEEP 0 1 30 25 862 CC 0.999957 0.999957 0 - 13 60 453 0 0 31.18251 169 60 6288 230 ENST00000392781.2 0.071429 1 B3GALNT1 8706 __UNKNOWN__ __UNKNOWN__ 3 160803242 160803242 __UNKNOWN__ 3'UTR SNP C C T rs9861850 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:160803242C>T ENST00000417187.1 - 0 643 B3GALNT1_ENST00000473285.1_3'UTR|B3GALNT1_ENST00000320474.4_3'UTR|B3GALNT1_ENST00000392781.2_3'UTR|B3GALNT1_ENST00000392779.2_3'UTR|B3GALNT1_ENST00000392780.1_3'UTR O75752 B3GL1_HUMAN beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group) NA NA oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486) Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity (GO:0047273)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499) breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 13 LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05) GAGCTTATAACTCAGTAACAC 0.308 NA T||| 1705 0.340455 0.4977 0.3444 5008 , , NA 17348 0.3234 NA 0.2157 False NA ,,, NA NA NA 2504 0.271 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Y15062 CCDS3193.1 3q25 2014-07-18 2006-06-14 2006-05-09 ENSG00000169255 ENSG00000169255 8706 2.4.1.79 Blood group antigens, Beta 3-glycosyltransferases 918 protein-coding gene gene with protein product globoside synthase, P antigen synthase 603094 UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 3 (Globoside blood group), UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 1 (Globoside blood group) B3GALT3 NA 9582303, 10993897 Standard NM_033167 XM_005247861 NA Approved beta3Gal-T3, galT3, P1, GLOB uc003fdv.3 O75752 OTTHUMG00000159064 ENST00000417187.1:c.*305G>A chr3.hg19:g.160803242C>T NA D3DNM4|Q3Y531|Q6IAI5|Q8NFM8|Q8NFM9|Q9HA06 hg19 0.02 8.830284 TAAxTCA COVERED NOVEL B3GALNT1-006 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000353128.1 1 12.039369 KEEP 0 0 0 40 1448 CC 1 1 0 - 14 60 518 0 0 35.884494 205 60 7736 314 ENST00000417187.1 0.063927 1 B3GALNT1 8706 __UNKNOWN__ __UNKNOWN__ 3 160821929 160821929 __UNKNOWN__ Intron SNP T T C rs7651087 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:160821929T>C ENST00000392781.2 - 3 316 B3GALNT1_ENST00000473285.1_Intron|B3GALNT1_ENST00000320474.4_Intron|B3GALNT1_ENST00000494818.1_Intron|B3GALNT1_ENST00000488170.1_Intron|B3GALNT1_ENST00000392779.2_Intron|B3GALNT1_ENST00000392780.1_Intron NM_001038628.1 NP_001033717.1 O75752 B3GL1_HUMAN beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group) NA NA oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486) Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity (GO:0047273)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499) breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 13 LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05) TCTTATCTGTTAGTAATAAAC 0.388 NA T||| 2764 0.551917 0.407 0.5202 5008 , , NA 18763 0.8026 NA 0.4851 False NA ,,, NA NA NA 2504 0.5808 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Y15062 CCDS3193.1 3q25 2014-07-18 2006-06-14 2006-05-09 ENSG00000169255 ENSG00000169255 8706 2.4.1.79 Blood group antigens, Beta 3-glycosyltransferases 918 protein-coding gene gene with protein product globoside synthase, P antigen synthase 603094 UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 3 (Globoside blood group), UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 1 (Globoside blood group) B3GALT3 NA 9582303, 10993897 Standard NM_033167 XM_005247861 NA Approved beta3Gal-T3, galT3, P1, GLOB uc003fdv.3 O75752 OTTHUMG00000159064 ENST00000392781.2:c.431+177A>G chr3.hg19:g.160821929T>C NA D3DNM4|Q3Y531|Q6IAI5|Q8NFM8|Q8NFM9|Q9HA06 hg19 CCDS3193.1 0.02 4.628228 TGTxAGT COVERED NOVEL B3GALNT1-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000353125.1 2 8.420428 KEEP 0 0 0 28 779 TT 0.999997 0.999988 0 - 6 60 222 0 0 15.028614 101 60 3511 137 ENST00000392781.2 0.056075 0.999991 B3GALNT1 8706 __UNKNOWN__ __UNKNOWN__ 3 160821969 160821969 __UNKNOWN__ Intron SNP A A G rs7617204 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:160821969A>G ENST00000392781.2 - 3 316 B3GALNT1_ENST00000473285.1_Intron|B3GALNT1_ENST00000320474.4_Intron|B3GALNT1_ENST00000494818.1_Intron|B3GALNT1_ENST00000488170.1_Intron|B3GALNT1_ENST00000392779.2_Intron|B3GALNT1_ENST00000392780.1_Intron NM_001038628.1 NP_001033717.1 O75752 B3GL1_HUMAN beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group) NA NA oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486) Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity (GO:0047273)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499) breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 13 LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05) ATACGCGTTCAGTAATTTGTG 0.388 NA G||| 2916 0.582268 0.5159 0.5331 5008 , , NA 18888 0.8026 NA 0.4841 False NA ,,, NA NA NA 2504 0.5808 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Y15062 CCDS3193.1 3q25 2014-07-18 2006-06-14 2006-05-09 ENSG00000169255 ENSG00000169255 8706 2.4.1.79 Blood group antigens, Beta 3-glycosyltransferases 918 protein-coding gene gene with protein product globoside synthase, P antigen synthase 603094 UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 3 (Globoside blood group), UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 1 (Globoside blood group) B3GALT3 NA 9582303, 10993897 Standard NM_033167 XM_005247861 NA Approved beta3Gal-T3, galT3, P1, GLOB uc003fdv.3 O75752 OTTHUMG00000159064 ENST00000392781.2:c.431+137T>C chr3.hg19:g.160821969A>G NA D3DNM4|Q3Y531|Q6IAI5|Q8NFM8|Q8NFM9|Q9HA06 hg19 CCDS3193.1 0.02 7.294899 TTCxGTA COVERED NOVEL B3GALNT1-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000353125.1 2 12.257014 KEEP 0 1 35 53 1659 AA 1 1 0 - 12 60 395 0 0 25.525381 188 60 6838 286 ENST00000392781.2 0.06 1 NMD3 51068 __UNKNOWN__ __UNKNOWN__ 3 160939776 160939776 __UNKNOWN__ 5'UTR SNP T T A rs6441366 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:160939776T>A ENST00000460469.1 + 0 430 NMD3_ENST00000472947.1_Intron|NMD3_ENST00000351193.2_Intron Q96D46 NMD3_HUMAN NMD3 ribosome export adaptor NA NA protein transport (GO:0015031)|ribosomal large subunit export from nucleus (GO:0000055) cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654) poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|ribosomal large subunit binding (GO:0043023) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2) 25 Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156) tttttttttttAAAAGAACTT 0.378 NA A||| 2814 0.561901 0.5832 0.513 5008 , , NA 18905 0.6964 NA 0.4046 False NA ,,, NA NA NA 2504 0.591 NA NA NA NA 0 - 98,4308 39,20,2144 25 26 26 NA 0 3 dbSNP_125 26 137,8463 63,11,4226 no intron NMD3 NM_015938.3 102,31,6370 AA,AT,TT 1.593,2.2242,1.8069 160939776 235,12771 2203 4300 6503 SO:0001623 5_prime_UTR_variant BC013317 CCDS3194.1 3q26.1 2013-08-06 2013-08-06 ENSG00000169251 ENSG00000169251 51068 24250 protein-coding gene gene with protein product 611021 NMD3 homolog (S. cerevisiae) NA 10810093, 23782956, 12773398 Standard NM_015938 NM_015938 NA Approved CGI-07 uc003feb.1 Q96D46 OTTHUMG00000159063 ENST00000460469.1:c.-26T>A chr3.hg19:g.160939776T>A NA D3DNM7|Q9Y2Z6 hg19 CCDS3194.1 0.02 13.502775 TTTxAAA COVERED NOVEL NMD3-005 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000353114.1 18 54.86202 KEEP 2 4 99 219 6064 TT 1 1 0 + 22 60 734 1 0 50.394509 268 70 8769 725 ENST00000460469.1 0.075862 1 NMD3 51068 __UNKNOWN__ __UNKNOWN__ 3 160955910 160955910 __UNKNOWN__ Missense_Mutation SNP A A T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:160955910A>T ENST00000460469.1 + 7 1042 c.587A>T c.(586-588)gAt>gTt p.D196V NMD3_ENST00000472947.1_Missense_Mutation_p.D196V|NMD3_ENST00000351193.2_Missense_Mutation_p.D196V Q96D46 NMD3_HUMAN NMD3 ribosome export adaptor 196 NA protein transport (GO:0015031)|ribosomal large subunit export from nucleus (GO:0000055) cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654) poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|ribosomal large subunit binding (GO:0043023) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2) 25 Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156) GATGGTCTGGATTTTTATTAT 0.308 NA NA NA NA NA NA NA NA NA NA NA 0 109 113 112 NA NA 3 NA 160955910 2202 4300 6502 SO:0001583 missense BC013317 CCDS3194.1 3q26.1 2013-08-06 2013-08-06 ENSG00000169251 ENSG00000169251 51068 24250 protein-coding gene gene with protein product 611021 NMD3 homolog (S. cerevisiae) NA 10810093, 23782956, 12773398 Standard NM_015938 NM_015938 NA Approved CGI-07 uc003feb.1 Q96D46 OTTHUMG00000159063 ENST00000460469.1:c.587A>T chr3.hg19:g.160955910A>T ENSP00000419004:p.Asp196Val NA D3DNM7|Q9Y2Z6 hg19 CCDS3194.1 0.02 5.770778 TGGxTTT COVERED . . . . . . . . . . A 22.1 4.243468 0.79912 . . ENSG00000169251 ENST00000493066;ENST00000351193;ENST00000472947;ENST00000463518;ENST00000460469;ENST00000540137 T;T;T;T;T 0.70516 -0.04;-0.42;-0.49;-0.04;-0.42 4.82 4.82 0.62117 . 0.000000 0.85682 D 0.000000 D 0.88952 0.6577 H 0.96943 3.91 0.80722 D 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.97110 0.999;1.0;0.997 D 0.92404 0.5932 10 0.87932 D 0 -17.0753 13.8377 0.63419 1.0:0.0:0.0:0.0 . 196;196;196 B3KT11;C9JA08;Q96D46 .;.;NMD3_HUMAN V 196;196;196;196;196;76 ENSP00000419030:D196V;ENSP00000307525:D196V;ENSP00000417559:D196V;ENSP00000418908:D196V;ENSP00000419004:D196V ENSP00000307525:D196V D + 2 0 NMD3 162438604 1.000000 0.71417 1.000000 0.80357 0.988000 0.76386 8.378000 0.90144 1.929000 0.55896 0.482000 0.46254 GAT NOVEL NMD3-005 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000353114.1 2 10.951451 KEEP 0 2 48 54 1479 AA 1 1 0 + 17 60 359 1 0 14.208964 372 70 10713 553 ENST00000460469.1 0.043702 1 NMD3 51068 __UNKNOWN__ __UNKNOWN__ 3 160964265 160964265 __UNKNOWN__ Intron SNP C C T rs149016699 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:160964265C>T ENST00000460469.1 + 11 1585 NMD3_ENST00000472947.1_Intron|NMD3_ENST00000351193.2_Intron Q96D46 NMD3_HUMAN NMD3 ribosome export adaptor NA NA protein transport (GO:0015031)|ribosomal large subunit export from nucleus (GO:0000055) cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654) poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|ribosomal large subunit binding (GO:0043023) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2) 25 Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156) TTTAAACTGCCAATTAGGATT 0.333 NA C||| 11 0.00219649 0.0 0.0 5008 , , NA 16529 0.0109 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 42 43 43 NA NA 3 NA 160964265 2203 4299 6502 SO:0001627 intron_variant BC013317 CCDS3194.1 3q26.1 2013-08-06 2013-08-06 ENSG00000169251 ENSG00000169251 51068 24250 protein-coding gene gene with protein product 611021 NMD3 homolog (S. cerevisiae) NA 10810093, 23782956, 12773398 Standard NM_015938 NM_015938 NA Approved CGI-07 uc003feb.1 Q96D46 OTTHUMG00000159063 ENST00000460469.1:c.1130+29C>T chr3.hg19:g.160964265C>T NA D3DNM7|Q9Y2Z6 hg19 CCDS3194.1 0.02 3.763199 TGCxAAT COVERED NOVEL NMD3-005 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000353114.1 1 10.233678 KEEP 0 0 0 34 1226 CC 0.999998 0.999998 0 + 5 60 179 0 0 11.138745 122 60 4579 201 ENST00000460469.1 0.03937 1 NMD3 51068 __UNKNOWN__ __UNKNOWN__ 3 160964271 160964271 __UNKNOWN__ Intron SNP G G A rs73026976 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:160964271G>A ENST00000460469.1 + 11 1585 NMD3_ENST00000472947.1_Intron|NMD3_ENST00000351193.2_Intron Q96D46 NMD3_HUMAN NMD3 ribosome export adaptor NA NA protein transport (GO:0015031)|ribosomal large subunit export from nucleus (GO:0000055) cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654) poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|ribosomal large subunit binding (GO:0043023) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2) 25 Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156) CTGCCAATTAGGATTGCAAAT 0.333 NA G||| 1735 0.346446 0.2421 0.3415 5008 , , NA 16479 0.5248 NA 0.3042 False NA ,,, NA NA NA 2504 0.3507 NA NA NA NA 0 G 1155,3251 379.0+/-323.1 167,821,1215 38 39 39 2.6 0 3 dbSNP_130 39 2659,5939 404.7+/-348.2 389,1881,2029 no intron NMD3 NM_015938.3 556,2702,3244 AA,AG,GG 30.9258,26.2143,29.3294 160964271 3814,9190 2203 4299 6502 SO:0001627 intron_variant BC013317 CCDS3194.1 3q26.1 2013-08-06 2013-08-06 ENSG00000169251 ENSG00000169251 51068 24250 protein-coding gene gene with protein product 611021 NMD3 homolog (S. cerevisiae) NA 10810093, 23782956, 12773398 Standard NM_015938 NM_015938 NA Approved CGI-07 uc003feb.1 Q96D46 OTTHUMG00000159063 ENST00000460469.1:c.1130+35G>A chr3.hg19:g.160964271G>A NA D3DNM7|Q9Y2Z6 hg19 CCDS3194.1 0.02 5.004265 TTAxGAT COVERED NOVEL NMD3-005 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000353114.1 1 10.534333 KEEP 0 0 0 35 1260 GG 0.999999 0.999998 0 + 5 60 190 0 0 12.326313 117 60 4432 197 ENST00000460469.1 0.040984 0.999999 ZBBX 79740 __UNKNOWN__ __UNKNOWN__ 3 166966436 166966436 __UNKNOWN__ Intron SNP C C T rs60512741 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:166966436C>T ENST00000455345.2 - 20 2538 ZBBX_ENST00000392766.2_Intron|ZBBX_ENST00000307529.5_Intron|ZBBX_ENST00000392767.2_Intron|ZBBX_ENST00000392764.1_Intron A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing NA NA intracellular (GO:0005622) zinc ion binding (GO:0008270) NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 caggctgaggccctagaaaga 0.443 NA C||| 1989 0.397165 0.2716 0.4164 5008 , , NA 18331 0.6409 NA 0.3022 False NA ,,, NA NA NA 2504 0.3998 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK026702 CCDS3199.2, CCDS56295.1, CCDS56296.1 3q26.1 2010-03-23 ENSG00000169064 ENSG00000169064 79740 26245 protein-coding gene gene with protein product NA 12477932 Standard NM_024687 NM_024687 NA Approved FLJ23049 uc011bpc.2 A8MT70 OTTHUMG00000133560 ENST00000455345.2:c.2255-6005G>A chr3.hg19:g.166966436C>T NA A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8 hg19 CCDS56296.1 0.02 1.827983 AGGxCCT COVERED NOVEL ZBBX-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000257658.2 1 6.320566 KEEP 1 0 0 21 746 CC 0.999869 0.999817 0 - 4 60 140 0 0 8.655185 94 60 3515 147 ENST00000455345.2 0.040816 0.999948 ZBBX 79740 __UNKNOWN__ __UNKNOWN__ 3 167000256 167000256 __UNKNOWN__ Missense_Mutation SNP G G C rs12638625 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:167000256G>C ENST00000455345.2 - 19 2307 c.2024C>G c.(2023-2025)gCa>gGa p.A675G ZBBX_ENST00000392766.2_Missense_Mutation_p.A636G|ZBBX_ENST00000307529.5_Missense_Mutation_p.A675G|ZBBX_ENST00000392767.2_Missense_Mutation_p.A636G|ZBBX_ENST00000392764.1_Missense_Mutation_p.A607G A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 636 NA intracellular (GO:0005622) zinc ion binding (GO:0008270) NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 TGGAAAATTTGCTGTTGAAGG 0.338 NA NA NA NA NA NA NA NA NA NA NA 0 G GLY/ALA,GLY/ALA,GLY/ALA 982,2656 134,714,971 124 120 121 2024,1820,1907 1.5 0.8 3 dbSNP_120 121 2451,5685 353,1745,1970 yes missense,missense,missense ZBBX NM_001199201.1,NM_001199202.1,NM_024687.3 60,60,60 487,2459,2941 CC,CG,GG 30.1254,26.9929,29.1575 benign,benign,benign 675/840,607/772,636/801 167000256 3433,8341 1819 4068 5887 SO:0001583 missense AK026702 CCDS3199.2, CCDS56295.1, CCDS56296.1 3q26.1 2010-03-23 ENSG00000169064 ENSG00000169064 79740 26245 protein-coding gene gene with protein product NA 12477932 Standard NM_024687 NM_024687 NA Approved FLJ23049 uc011bpc.2 A8MT70 OTTHUMG00000133560 ENST00000455345.2:c.2024C>G chr3.hg19:g.167000256G>C ENSP00000390232:p.Ala675Gly NA A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8 hg19 CCDS56296.1 0.02 13.560227 TTTxCTG COVERED 861 0.3942307692307692 135 0.27439024390243905 136 0.3756906077348066 370 0.6468531468531469 220 0.29023746701846964 G 6.009 0.370125 0.11352 0.269929 0.301254 ENSG00000169064 ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764 T;T;T;T;T 0.14391 2.68;2.68;2.53;2.53;2.51 5.28 1.47 0.22746 . 0.759635 0.12007 N 0.508267 T 0.00012 0.0000 L 0.53249 1.67 0.49130 P 2.4400000000002198E-4 B;B 0.28760 0.221;0.141 B;B 0.33295 0.161;0.077 T 0.21724 -1.0237 9 0.40728 T 0.16 -1.7821 4.4295 0.11520 0.2482:0.0:0.5988:0.153 rs12638625;rs52789532;rs12638625 675;636 A8MT70-2;A8MT70 .;ZBBX_HUMAN G 636;636;675;675;607 ENSP00000376519:A636G;ENSP00000376520:A636G;ENSP00000390232:A675G;ENSP00000305065:A675G;ENSP00000376517:A607G ENSP00000305065:A675G A - 2 0 ZBBX 168482950 0.997000 0.39634 0.831000 0.32960 0.003000 0.03518 0.491000 0.22419 -0.014000 0.14175 -0.911000 0.02809 GCA NOVEL ZBBX-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000257658.2 1 11.13667 KEEP 0 0 0 37 1336 GG 1 1 0 - 26 60 952 0 0 69.056995 278 60 10460 402 ENST00000455345.2 0.085526 1 WDR49 151790 __UNKNOWN__ __UNKNOWN__ 3 167320010 167320010 __UNKNOWN__ Missense_Mutation SNP T T C rs75218075 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:167320010T>C ENST00000479765.1 - 7 1403 c.1180A>G c.(1180-1182)Aaa>Gaa p.K394E WDR49_ENST00000308378.3_Missense_Mutation_p.K53E|WDR49_ENST00000453925.2_Missense_Mutation_p.K106E Q8IV35 WDR49_HUMAN WD repeat domain 49 53 NA breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 CCCACTGGTTTAGAGACAACA 0.378 NA T||| 364 0.0726837 0.087 0.0101 5008 , , NA 18820 0.2034 NA 0.005 False NA ,,, NA NA NA 2504 0.0327 NA NA NA NA 0 T GLU/LYS 279,4127 154.8+/-188.1 7,265,1931 73 71 72 157 5.4 1 3 dbSNP_131 72 17,8583 13.3+/-46.6 1,15,4284 yes missense WDR49 NM_178824.3 56 8,280,6215 CC,CT,TT 0.1977,6.3323,2.2759 probably-damaging 53/698 167320010 296,12710 2203 4300 6503 SO:0001583 missense AK097556 CCDS3201.1 3q26.1 2013-01-11 ENSG00000174776 ENSG00000174776 151790 WD repeat domain containing 26587 protein-coding gene gene with protein product NA 12477932 Standard NM_178824 NM_178824 NA Approved FLJ33620 uc003fev.1 Q8IV35 OTTHUMG00000158290 ENST00000479765.1:c.1180A>G chr3.hg19:g.167320010T>C ENSP00000419749:p.Lys394Glu NA Q8N297 hg19 0.02 11.550505 GTTxAGA COVERED 152 0.0695970695970696 39 0.07926829268292683 2 0.0055248618784530384 107 0.18706293706293706 4 0.005277044854881266 T 21.9 4.219294 0.79464 0.063323 0.001977 ENSG00000174776 ENST00000308378;ENST00000479765;ENST00000453925 T;T;T 0.59906 0.23;0.23;0.23 5.4 5.4 0.78164 WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1); 0.232834 0.41396 D 0.000884 T 0.00210 0.0006 L 0.52823 1.66 0.34878 D 0.744317 D;D;D 0.69078 0.957;0.957;0.997 P;P;P 0.62649 0.71;0.621;0.905 T 0.10337 -1.0634 10 0.39692 T 0.17 . 14.4309 0.67249 0.0:0.0:0.0:1.0 . 106;394;53 E7EQK3;E9PDB0;Q8IV35 .;.;WDR49_HUMAN E 53;394;106 ENSP00000311343:K53E;ENSP00000419749:K394E;ENSP00000410863:K106E ENSP00000311343:K53E K - 1 0 WDR49 168802704 1.000000 0.71417 1.000000 0.80357 0.974000 0.67602 2.996000 0.49449 2.038000 0.60285 0.455000 0.32223 AAA NOVEL WDR49-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000350593.2 1 10.830667 KEEP 0 0 0 36 1122 TT 0.999999 0.999999 0 - 11 60 431 0 0 27.954961 284 60 10320 420 ENST00000479765.1 0.037288 1 WDR49 151790 __UNKNOWN__ __UNKNOWN__ 3 167322307 167322307 __UNKNOWN__ Intron SNP G G A rs80264027 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:167322307G>A ENST00000479765.1 - 6 1182 WDR49_ENST00000308378.3_Intron|WDR49_ENST00000453925.2_Intron Q8IV35 WDR49_HUMAN WD repeat domain 49 NA NA breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 TTCTTCACAAGATATTAGTAA 0.284 NA G||| 226 0.0451278 0.0015 0.0 5008 , , NA 19253 0.2034 NA 0.004 False NA ,,, NA NA NA 2504 0.0153 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK097556 CCDS3201.1 3q26.1 2013-01-11 ENSG00000174776 ENSG00000174776 151790 WD repeat domain containing 26587 protein-coding gene gene with protein product NA 12477932 Standard NM_178824 NM_178824 NA Approved FLJ33620 uc003fev.1 Q8IV35 OTTHUMG00000158290 ENST00000479765.1:c.959-51C>T chr3.hg19:g.167322307G>A NA Q8N297 hg19 0.02 8.440192 CAAxATA COVERED NOVEL WDR49-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000350593.2 2 4.815483 KEEP 0 0 0 16 549 GG 0.997832 0.997832 0 - 8 60 292 0 0 18.131737 210 60 7808 244 ENST00000479765.1 0.036697 1 MECOM 2122 __UNKNOWN__ __UNKNOWN__ 3 168834358 168834358 __UNKNOWN__ Silent SNP C C T rs199815249 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:168834358C>T ENST00000464456.1 - 7 1938 c.738G>A c.(736-738)gcG>gcA p.A246A MECOM_ENST00000433243.2_Silent_p.A247A|MECOM_ENST00000468789.1_Silent_p.A246A|MECOM_ENST00000264674.3_Silent_p.A311A|MECOM_ENST00000494292.1_Silent_p.A434A|MECOM_ENST00000460814.1_Silent_p.A246A|MECOM_ENST00000472280.1_Silent_p.A247A|MECOM_ENST00000392736.3_Silent_p.A246A NM_001164000.1 NP_001157472.1 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 0 NA regulation of transcription, DNA-templated (GO:0006355) sequence-specific DNA binding transcription factor activity (GO:0003700) NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 ATCCACCTGCCGCAAAATGGT 0.468 NA C||| 4 0.000798722 0.0 0.0014 5008 , , NA 17481 0.003 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 357 306 323 NA NA 3 NA 168834358 2203 4300 6503 SO:0001819 synonymous_variant S82592, AF164154 CCDS3205.1, CCDS54669.1, CCDS54670.1 3q26.2 2013-01-08 2009-08-07 2009-08-07 ENSG00000085276 ENSG00000085276 2122 Zinc fingers, C2H2-type 3498 protein-coding gene gene with protein product 165215 myelodysplasia syndrome 1, ecotropic viral integration site 1 MDS1, EVI1 NA 2115646, 8171026, 8643684 Standard NM_005241, NM_004991 NM_001105077 NA Approved MDS1-EVI1, PRDM3 uc011bpj.1 Q03112 OTTHUMG00000158596 ENST00000464456.1:c.738G>A chr3.hg19:g.168834358C>T NA Q13466|Q6FH90 hg19 CCDS54669.1 0.02 16.8193 TGCxGCA COVERED NOVEL MECOM-020 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000351519.1 2 12.038337 KEEP 0 0 0 40 1359 CC 1 1 0 - 12 60 470 0 0 29.825302 352 60 12504 484 ENST00000464456.1 0.032967 1 MECOM 2122 __UNKNOWN__ __UNKNOWN__ 3 168849576 168849576 __UNKNOWN__ Intron SNP T T C rs11721038 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:168849576T>C ENST00000464456.1 - 3 1147 MECOM_ENST00000433243.2_Intron|MECOM_ENST00000468789.1_Intron|MECOM_ENST00000264674.3_Intron|MECOM_ENST00000494292.1_Intron|MECOM_ENST00000460814.1_Intron|MECOM_ENST00000472280.1_Intron|MECOM_ENST00000392736.3_Intron NM_001164000.1 NP_001157472.1 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus NA NA regulation of transcription, DNA-templated (GO:0006355) sequence-specific DNA binding transcription factor activity (GO:0003700) NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 CAAATTTTCTTAATGCAAGGC 0.403 NA T||| 1036 0.206869 0.4236 0.111 5008 , , NA 19591 0.1637 NA 0.0875 False NA ,,, NA NA NA 2504 0.1493 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant S82592, AF164154 CCDS3205.1, CCDS54669.1, CCDS54670.1 3q26.2 2013-01-08 2009-08-07 2009-08-07 ENSG00000085276 ENSG00000085276 2122 Zinc fingers, C2H2-type 3498 protein-coding gene gene with protein product 165215 myelodysplasia syndrome 1, ecotropic viral integration site 1 MDS1, EVI1 NA 2115646, 8171026, 8643684 Standard NM_005241, NM_004991 NM_001105077 NA Approved MDS1-EVI1, PRDM3 uc011bpj.1 Q03112 OTTHUMG00000158596 ENST00000464456.1:c.54-257A>G chr3.hg19:g.168849576T>C NA Q13466|Q6FH90 hg19 CCDS54669.1 0.02 4.382073 TCTxAAT COVERED NOVEL MECOM-020 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000351519.1 1 7.220665 KEEP 0 0 0 24 720 TT 0.999909 0.999909 0 - 7 60 265 0 0 17.863394 129 60 4619 188 ENST00000464456.1 0.051471 1 MECOM 2122 __UNKNOWN__ __UNKNOWN__ 3 169098992 169098992 __UNKNOWN__ Missense_Mutation SNP G G A rs7622799 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:169098992G>A ENST00000494292.1 - 2 455 c.358C>T c.(358-360)Ccc>Tcc p.P120S MECOM_ENST00000485957.1_5'UTR NM_004991.3 NP_004982.2 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 120 NA P -> S (in dbSNP:rs7622799). regulation of transcription, DNA-templated (GO:0006355) sequence-specific DNA binding transcription factor activity (GO:0003700) p.P114S(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 CCATAACTGGGGTCTTTCAGG 0.408 NA G||| 766 0.152955 0.1362 0.3329 5008 , , NA 20490 0.1558 NA 0.1233 False NA ,,, NA NA NA 2504 0.0757 NA NA NA NA 1 Substitution - Missense(1) stomach(1) G ,SER/PRO 483,3245 32,419,1413 90 87 88 ,358 4.5 1 3 dbSNP_116 88 932,7278 53,826,3226 yes intron,missense MECOM NM_001205194.1,NM_004991.3 ,74 85,1245,4639 AA,AG,GG 11.352,12.956,11.8529 ,possibly-damaging ,120/1240 169098992 1415,10523 1864 4105 5969 SO:0001583 missense S82592, AF164154 CCDS3205.1, CCDS54669.1, CCDS54670.1 3q26.2 2013-01-08 2009-08-07 2009-08-07 ENSG00000085276 ENSG00000085276 2122 Zinc fingers, C2H2-type 3498 protein-coding gene gene with protein product 165215 myelodysplasia syndrome 1, ecotropic viral integration site 1 MDS1, EVI1 NA 2115646, 8171026, 8643684 Standard NM_005241, NM_004991 NM_001105077 NA Approved MDS1-EVI1, PRDM3 uc011bpj.1 Q03112 OTTHUMG00000158596 ENST00000494292.1:c.358C>T chr3.hg19:g.169098992G>A ENSP00000417899:p.Pro120Ser NA Q13466|Q6FH90 hg19 0.02 19.497984 TGGxGTC COVERED 344 0.1575091575091575 59 0.11991869918699187 89 0.24585635359116023 94 0.16433566433566432 102 0.1345646437994723 G 1.493 -0.554124 0.03996 0.12956 0.11352 ENSG00000085276 ENST00000494292 T 0.71698 -0.59 5.4 4.52 0.55395 . 0.105398 0.42964 N 0.000640 T 0.00012 0.0000 N 0.12746 0.255 0.09310 P 1.0 B;B 0.30281 0.275;0.0 B;B 0.28916 0.096;0.002 T 0.06734 -1.0810 9 0.46703 T 0.11 . 13.2366 0.59972 0.0775:0.0:0.9225:0.0 rs7622799;rs52817261;rs59561788;rs7622799 120;120 Q13465;Q03112-3 MDS1_HUMAN;. S 120 ENSP00000417899:P120S ENSP00000417899:P120S P - 1 0 MECOM 170581686 1.000000 0.71417 0.974000 0.42286 0.381000 0.30169 2.496000 0.45346 1.252000 0.44001 0.650000 0.86243 CCC NOVEL MECOM-004 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000351517.3 2 19.563717 KEEP 0 0 0 65 2300 GG 1 1 0 - 23 60 835 0 0 54.439229 455 60 16673 673 ENST00000494292.1 0.048117 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 169431237 169431237 __UNKNOWN__ IGR SNP A A T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:169431237A>T NA NA MECOM (49831 upstream) : RNU6-637P (6737 downstream) NA NA NA tttttttgagacagagtcttg 0.393 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.169431237A>T NA hg19 0.02 -0.043865 GAGxCAG UNCOVERED NOVEL 0 10 3.008775 KEEP 7 0 0 10 300 AA 0 0 0 2 27 73 2 0 7.050101 2 58 69 17 0.5 0.024074 ACTRT3 84517 __UNKNOWN__ __UNKNOWN__ 3 169486144 169486144 __UNKNOWN__ Intron SNP A A G rs9822885 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:169486144A>G ENST00000330368.2 - 2 575 NM_032487.4 NP_115876.3 Q9BYD9 ACTT3_HUMAN actin-related protein T3 NA NA cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673) NA GGTAACTGTAAGGAAAGCAAT 0.408 NA G||| 2147 0.428714 0.3888 0.4294 5008 , , NA 20940 0.6815 NA 0.2644 False NA ,,, NA NA NA 2504 0.3906 NA NA NA NA 0 G 1705,2701 636.8+/-396.6 322,1061,820 47 45 45 0.9 0.1 3 dbSNP_119 45 2309,6291 696.8+/-404.9 329,1651,2320 no intron ARPM1 NM_032487.4 651,2712,3140 GG,GA,AA 26.8488,38.6972,30.8627 169486144 4014,8992 2203 4300 6503 SO:0001627 intron_variant AK055346 CCDS3206.1 3q26.2 2012-04-10 ENSG00000184378 ENSG00000184378 84517 24022 protein-coding gene gene with protein product actin related protein M1 608534 NA 11750065, 18692047 Standard NM_032487 NM_032487 NA Approved ARPM1 uc003ffs.2 Q9BYD9 ENST00000330368.2:c.201-6T>C chr3.hg19:g.169486144A>G NA Q96IS0|Q96NJ0 hg19 CCDS3206.1 0.02 4.85856 GTAxGGA COVERED NOVEL ACTRT3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000467797.1 2 10.766481 KEEP 0 1 32 47 1486 AA 1 1 0 - 12 60 442 0 0 31.777999 138 60 5133 236 ENST00000330368.2 0.08 1 MYNN 55892 __UNKNOWN__ __UNKNOWN__ 3 169492101 169492101 __UNKNOWN__ Silent SNP C C T rs10936599 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:169492101C>T ENST00000349841.5 + 2 681 c.18C>T c.(16-18)caC>caT p.H6H MYNN_ENST00000392733.1_Silent_p.H6H|MYNN_ENST00000544106.1_Silent_p.H6H|MYNN_ENST00000356716.4_Silent_p.H6H NM_018657.4 NP_061127.1 Q9NPC7 MYNN_HUMAN myoneurin 6 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270) breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197) Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676) ATTCGCACCACTGTGAGCACC 0.393 NA C||| 1355 0.270567 0.0371 0.3545 5008 , , NA 21836 0.5784 NA 0.2425 False NA ,,, NA NA NA 2504 0.2382 NA NA NA NA 0 C ,, 305,4101 164.0+/-195.7 5,295,1903 172 165 168 http://www.ncbi.nlm.nih.gov/pubmed?term 18,18,18 3.9 1 3 dbSNP_120 168 2128,6472 366.6+/-334.4 279,1570,2451 yes coding-synonymous,coding-synonymous,coding-synonymous MYNN NM_001185118.1,NM_001185119.1,NM_018657.4 ,, 284,1865,4354 TT,TC,CC http://www.ncbi.nlm.nih.gov/pubmed?term 24.7442,6.9224,18.7068 ,, 6/611,6/582,6/611 169492101 2433,10573 2203 4300 6503 SO:0001819 synonymous_variant AF148848 CCDS3207.1, CCDS54671.1 3q26.31 2013-01-09 ENSG00000085274 ENSG00000085274 55892 -, Zinc fingers, C2H2-type, BTB/POZ domain containing 14955 protein-coding gene gene with protein product 606042 NA 10873615 Standard NM_018657 NM_001185118 NA Approved SBBIZ1, ZBTB31, ZNF902 uc010hwo.3 Q9NPC7 ENST00000349841.5:c.18C>T chr3.hg19:g.169492101C>T NA B2R6C9|Q6QHA6|Q6QHA7|Q6R3G1|Q6R3G2|Q6R4A0|Q7Z716|Q7Z717|Q86Z11|Q86Z12|Q9NS01|Q9UIW8 hg19 CCDS3207.1 0.02 14.703395 CCAxTGT COVERED NOVEL MYNN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000467801.1 2 49.995947 KEEP 0 1 22 174 6265 CC 1 1 0 + 27 70 941 1 0 64.525391 361 60 13795 724 ENST00000349841.5 0.069588 1 LRRC34 151827 __UNKNOWN__ __UNKNOWN__ 3 169514585 169514585 __UNKNOWN__ Missense_Mutation SNP A A T rs10936600 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:169514585A>T ENST00000446859.1 - 8 971 c.856T>A c.(856-858)Tta>Ata p.L286I LRRC34_ENST00000524327.1_5'UTR|LRRC34_ENST00000316515.7_Missense_Mutation_p.L241I|LRRC34_ENST00000522526.2_Missense_Mutation_p.L254I|LRRC34_ENST00000522830.1_Missense_Mutation_p.L225I NM_001172779.1 NP_001166250.1 Q8IZ02 LRC34_HUMAN leucine rich repeat containing 34 241 NA breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(2) 10 all_cancers(22;4.12e-22)|all_epithelial(15;7.54e-27)|all_lung(20;1.63e-16)|Lung NSC(18;6.92e-16)|Ovarian(172;0.000223)|Breast(254;0.197) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676) GCATCACATAACTGTTGTATA 0.368 NA A||| 1367 0.272963 0.0598 0.353 5008 , , NA 17676 0.5784 NA 0.2425 False NA ,,, NA NA NA 2504 0.2209 NA NA NA NA 0 A ILE/LEU,ILE/LEU,ILE/LEU 422,3984 204.5+/-226.7 19,384,1800 140 118 125 856,856,760 -0.4 0 3 dbSNP_120 125 2129,6471 365.8+/-334.1 281,1567,2452 yes missense,missense,missense LRRC34 NM_001172779.1,NM_001172780.1,NM_153353.4 5,5,5 300,1951,4252 TT,TA,AA 24.7558,9.5778,19.614 probably-damaging,probably-damaging,probably-damaging 286/465,286/362,254/433 169514585 2551,10455 2203 4300 6503 SO:0001583 missense AK095125 CCDS3208.1, CCDS3208.2, CCDS54672.1 3q26.2 2014-03-18 ENSG00000171757 ENSG00000171757 151827 28408 protein-coding gene gene with protein product NA 12477932 Standard NM_153353 NM_153353 NA Approved MGC27085 uc003ffy.3 Q8IZ02 OTTHUMG00000164419 ENST00000446859.1:c.856T>A chr3.hg19:g.169514585A>T ENSP00000414635:p.Leu286Ile NA B4DEJ7|E9PBH2|G5E9T7 hg19 CCDS54672.1 0.02 6.694691 ATAxCTG COVERED 674 0.3086080586080586 43 0.08739837398373984 104 0.287292817679558 335 0.5856643356643356 192 0.2532981530343008 A 12.07 1.827537 0.32329 0.095778 0.247558 ENSG00000171757 ENST00000446859;ENST00000316515;ENST00000522830;ENST00000522526;ENST00000528597 T;T;T;T;T 0.61627 0.09;0.09;0.09;0.09;0.29 5.97 -0.438 0.12268 . 0.000000 0.85682 D 0.000000 T 0.00012 0.0000 L 0.49778 1.585 0.38734 P 0.046262000000000025 D;D;D;D;D 0.89917 0.998;0.999;0.998;1.0;0.999 D;D;D;D;D 0.80764 0.947;0.994;0.969;0.992;0.994 T 0.46484 -0.9188 9 0.20046 T 0.44 -12.371 12.0559 0.53536 0.4398:0.0:0.5602:0.0 rs10936600;rs52820542;rs56578627;rs59898455;rs10936600 273;225;225;286;241 B4DHF2;B3KT77;G3V115;G5E9T7;Q8IZ02 .;.;.;.;LRC34_HUMAN I 286;241;225;254;35 ENSP00000414635:L286I;ENSP00000326150:L241I;ENSP00000429593:L225I;ENSP00000429278:L254I;ENSP00000436883:L35I ENSP00000326150:L241I L - 1 2 LRRC34 170997279 0.759000 0.28416 0.001000 0.08648 0.001000 0.01503 1.045000 0.30341 -0.269000 0.09298 -0.923000 0.02734 TTA NOVEL LRRC34-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000378688.1 0 6.751061 KEEP 0 1 30 33 1050 AA 0.999998 0.999998 0 - 8 60 299 0 0 20.016796 148 60 5423 236 ENST00000446859.1 0.051282 1 LRRC31 79782 __UNKNOWN__ __UNKNOWN__ 3 169569374 169569374 __UNKNOWN__ Intron SNP A A G rs41273579 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:169569374A>G ENST00000316428.5 - 7 1217 LRRC31_ENST00000523069.1_Intron|LRRC31_ENST00000264676.5_Intron NM_001277127.1|NM_024727.2 NP_001264056.1|NP_079003.2 Q6UY01 LRC31_HUMAN leucine rich repeat containing 31 NA NA cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 31 all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943) ACATTATTGCATGGTTCCTGC 0.423 NA A||| 286 0.0571086 0.0189 0.1009 5008 , , NA 19244 0.0546 NA 0.0785 False NA ,,, NA NA NA 2504 0.0583 NA NA NA NA 0 A 106,3660 2,102,1779 73 70 71 -7.9 0 3 dbSNP_127 71 578,7642 21,536,3553 no intron LRRC31 NM_024727.2 23,638,5332 GG,GA,AA 7.0316,2.8147,5.7067 169569374 684,11302 1883 4110 5993 SO:0001627 intron_variant AK026912 CCDS43167.1, CCDS63832.1, CCDS63833.1 3q26.2 2005-01-24 ENSG00000114248 ENSG00000114248 79782 26261 protein-coding gene gene with protein product NA 12975309 Standard NM_024727 NM_001277127 NA Approved FLJ23259 uc003fgc.2 Q6UY01 OTTHUMG00000164421 ENST00000316428.5:c.1159+32T>C chr3.hg19:g.169569374A>G NA B7ZL44|E5RJA9|Q17RA3|Q8N848|Q9H5N5|V9HW14 hg19 CCDS43167.1 0.02 8.273063 TGCxTGG COVERED NOVEL LRRC31-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000378699.1 0 10.230201 KEEP 0 0 0 34 1055 AA 0.999998 0.999998 0 - 10 60 349 0 0 21.695896 227 60 8391 330 ENST00000316428.5 0.042194 1 LRRC31 79782 __UNKNOWN__ __UNKNOWN__ 3 169569432 169569432 __UNKNOWN__ Missense_Mutation SNP C C G rs35923425 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:169569432C>G ENST00000316428.5 - 7 1191 c.1134G>C c.(1132-1134)ttG>ttC p.L378F LRRC31_ENST00000523069.1_Missense_Mutation_p.L378F|LRRC31_ENST00000264676.5_Missense_Mutation_p.L322F NM_001277127.1|NM_024727.2 NP_001264056.1|NP_079003.2 Q6UY01 LRC31_HUMAN leucine rich repeat containing 31 378 NA L -> F (in dbSNP:rs35923425). cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 31 all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943) TCTCACTCTCCAAAGCACAGT 0.423 NA C||| 280 0.0559105 0.0144 0.1009 5008 , , NA 19592 0.0546 NA 0.0785 False NA ,,, NA NA NA 2504 0.0583 NA NA NA NA 0 C PHE/LEU 87,3647 0,87,1780 109 105 106 1134 2.8 0.8 3 dbSNP_126 106 580,7634 21,538,3548 yes missense LRRC31 NM_024727.2 22 21,625,5328 GG,GC,CC 7.0611,2.3299,5.5825 probably-damaging 378/553 169569432 667,11281 1867 4107 5974 SO:0001583 missense AK026912 CCDS43167.1, CCDS63832.1, CCDS63833.1 3q26.2 2005-01-24 ENSG00000114248 ENSG00000114248 79782 26261 protein-coding gene gene with protein product NA 12975309 Standard NM_024727 NM_001277127 NA Approved FLJ23259 uc003fgc.2 Q6UY01 OTTHUMG00000164421 ENST00000316428.5:c.1134G>C chr3.hg19:g.169569432C>G ENSP00000325978:p.Leu378Phe NA B7ZL44|E5RJA9|Q17RA3|Q8N848|Q9H5N5|V9HW14 hg19 CCDS43167.1 0.02 11.957881 CTCxAAA COVERED 128 0.05860805860805861 6 0.012195121951219513 31 0.0856353591160221 30 0.05244755244755245 61 0.08047493403693931 C 23.9 4.467201 0.84533 0.023299 0.070611 ENSG00000114248 ENST00000316428;ENST00000264676;ENST00000523069 T;T;T 0.60299 0.2;0.2;0.2 4.89 2.75 0.32379 . 0.000000 0.64402 D 0.000001 T 0.10680 0.0261 M 0.89287 3.02 0.30250 P 0.794127 D;D 0.89917 1.0;1.0 D;D 0.91635 0.999;0.998 T 0.61123 -0.7126 9 0.51188 T 0.08 -1.4719 6.0537 0.19799 0.0:0.5091:0.0:0.4909 rs35923425 322;378 Q6UY01-2;Q6UY01 .;LRC31_HUMAN F 378;322;378 ENSP00000325978:L378F;ENSP00000264676:L322F;ENSP00000429145:L378F ENSP00000264676:L322F L - 3 2 LRRC31 171052126 0.882000 0.30256 0.754000 0.31244 0.954000 0.61252 1.325000 0.33724 1.030000 0.39839 0.462000 0.41574 TTG NOVEL LRRC31-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000378699.1 0 12.94228 KEEP 0 0 0 43 1537 CC 1 1 0 - 13 60 477 0 0 30.787427 281 60 10756 428 ENST00000316428.5 0.044218 1 GPR160 26996 __UNKNOWN__ __UNKNOWN__ 3 169801658 169801658 __UNKNOWN__ Intron SNP G G A rs6444895 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:169801658G>A ENST00000355897.5 + 4 540 NM_014373.2 NP_055188.1 Q9UJ42 GP160_HUMAN G protein-coupled receptor 160 NA NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) G-protein coupled receptor activity (GO:0004930) breast(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2) 8 all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) TTCAAAATAGGTAACATTAAG 0.284 NA A||| 2542 0.507588 0.4365 0.5706 5008 , , NA 15485 0.6954 NA 0.4294 False NA ,,, NA NA NA 2504 0.4458 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB083583 CCDS3211.1 3q26.2-q27 2012-08-21 ENSG00000173890 ENSG00000173890 26996 GPCR / Class A : Orphans 23693 protein-coding gene gene with protein product NA 12044878 Standard NM_014373 NM_014373 NA Approved GPCR150, GPCR1 uc003fgi.3 Q9UJ42 OTTHUMG00000158776 ENST00000355897.5:c.-68-35G>A chr3.hg19:g.169801658G>A NA D3DNQ2 hg19 CCDS3211.1 0.02 20.494071 TAGxTAA COVERED NOVEL GPR160-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000352167.1 2 18.96205 KEEP 0 0 0 63 2262 GG 1 1 0 + 22 60 805 0 0 52.535447 444 60 16332 656 ENST00000355897.5 0.04721 1 PHC3 80012 __UNKNOWN__ __UNKNOWN__ 3 169813340 169813340 __UNKNOWN__ 3'UTR SNP C C T rs7643249 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:169813340C>T ENST00000495893.2 - 0 4697 PHC3_ENST00000494943.1_3'UTR NM_024947.3 NP_079223.3 Q8NDX5 PHC3_HUMAN polyhomeotic homolog 3 (Drosophila) NA NA multicellular organismal development (GO:0007275) actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102) DNA binding (GO:0003677)|zinc ion binding (GO:0008270) breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2) 26 all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) AGTCTTCTACCAGCTCAACAC 0.338 NA T||| 2597 0.51857 0.5144 0.4986 5008 , , NA 17366 0.6815 NA 0.4423 False NA ,,, NA NA NA 2504 0.4489 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS46952.1 3q26.32 2014-01-28 2006-09-12 ENSG00000173889 ENSG00000173889 80012 Sterile alpha motif (SAM) domain containing 15682 protein-coding gene gene with protein product early development regulator 3, polyhomeotic like 3 polyhomeotic like 3 (Drosophila) NA 12167701, 12384788 Standard NM_024947 NM_024947 NA Approved EDR3, FLJ12967, FLJ12729, HPH3 uc003fgl.2 Q8NDX5 OTTHUMG00000158777 ENST00000495893.2:c.*1678G>A chr3.hg19:g.169813340C>T NA A2RRP9|Q5HYF0|Q6NSG2|Q8NFT7|Q8NFZ1|Q8TBM2|Q9H971|Q9H9I4 hg19 CCDS46952.1 0.02 8.528204 TACxAGC COVERED NOVEL PHC3-008 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000352186.3 3 15.349321 KEEP 0 0 0 51 1771 CC 1 1 0 - 23 60 836 0 0 61.574393 219 60 8114 353 ENST00000495893.2 0.095041 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 169899667 169899667 __UNKNOWN__ IGR SNP T T G rs16854875 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:169899667T>G NA NA PHC3 (130 upstream) : PRKCI (40485 downstream) NA NA NA TGACCAGATTTCCCCCACTAA 0.522 NA T||| 575 0.114816 0.1392 0.1844 5008 , , NA 12326 0.1032 NA 0.1163 False NA ,,, NA NA NA 2504 0.0429 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.169899667T>G NA hg19 0.02 2.287562 ATTxCCC COVERED NOVEL 0 1 4.513338 KEEP 0 0 0 15 469 TT 0.99649 0.995711 0 6 60 232 0 0 16.817331 74 60 2487 100 0.075 0.999218 SLC7A14 57709 __UNKNOWN__ __UNKNOWN__ 3 170198658 170198658 __UNKNOWN__ Missense_Mutation SNP A A T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:170198658A>T ENST00000231706.5 - 7 1728 c.1413T>A c.(1411-1413)gaT>gaA p.D471E CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron NM_020949.2 NP_066000.2 Q8TBB6 S7A14_HUMAN solute carrier family 7, member 14 471 NA negative regulation of phosphatase activity (GO:0010923) integral component of membrane (GO:0016021)|lysosome (GO:0005764) amino acid transmembrane transporter activity (GO:0015171) central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4) 53 all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137) Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12) CAGAAAACTCATCCCCCTCAC 0.493 NA NA NA NA NA NA NA NA NA NA NA 0 147 145 146 NA NA 3 NA 170198658 2203 4300 6503 SO:0001583 missense BC022968 CCDS33892.1 3q26.2 2014-06-13 2013-07-19 ENSG00000013293 ENSG00000013293 57709 Solute carriers 29326 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 142 615720 NA Standard NM_020949 NM_020949 NA Approved KIAA1613, PPP1R142 uc003fgz.2 Q8TBB6 OTTHUMG00000158941 ENST00000231706.5:c.1413T>A chr3.hg19:g.170198658A>T ENSP00000231706:p.Asp471Glu NA B3KV33|Q9HCF9 hg19 CCDS33892.1 0.02 15.359422 CTCxTCC COVERED . . . . . . . . . . A 0.050 -1.253364 0.01457 . . ENSG00000013293 ENST00000231706 D 0.86297 -2.1 5.03 -1.77 0.07982 . 0.213817 0.47852 N 0.000201 T 0.59609 0.2206 N 0.04880 -0.145 0.30824 N 0.737437 B 0.02656 0.0 B 0.01281 0.0 T 0.54490 -0.8286 10 0.02654 T 1 . 0.8425 0.01153 0.3506:0.3105:0.1432:0.1956 . 471 Q8TBB6 S7A14_HUMAN E 471 ENSP00000231706:D471E ENSP00000231706:D471E D - 3 2 SLC7A14 171681352 0.578000 0.26717 0.995000 0.50966 0.398000 0.30690 -0.224000 0.09164 -0.310000 0.08766 -0.256000 0.11100 GAT NOVEL SLC7A14-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000352598.2 3 18.956145 KEEP 0 0 0 63 1964 AA 1 1 0 - 17 60 629 0 0 40.617427 376 60 13607 515 ENST00000231706.5 0.043257 1 SLC7A14 57709 __UNKNOWN__ __UNKNOWN__ 3 170218862 170218862 __UNKNOWN__ Intron SNP T T C rs16855165 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:170218862T>C ENST00000231706.5 - 3 857 CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron NM_020949.2 NP_066000.2 Q8TBB6 S7A14_HUMAN solute carrier family 7, member 14 NA NA negative regulation of phosphatase activity (GO:0010923) integral component of membrane (GO:0016021)|lysosome (GO:0005764) amino acid transmembrane transporter activity (GO:0015171) central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4) 53 all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137) Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12) CTTGGTAAGTTTGCATGTTGA 0.453 NA T||| 652 0.130192 0.0318 0.2133 5008 , , NA 18787 0.1825 NA 0.1421 False NA ,,, NA NA NA 2504 0.138 NA NA NA NA 0 T 194,4186 3,188,1999 52 51 52 1.8 0 3 dbSNP_123 52 1185,7367 88,1009,3179 no intron SLC7A14 NM_020949.2 91,1197,5178 CC,CT,TT 13.8564,4.4292,10.6635 170218862 1379,11553 2190 4276 6466 SO:0001627 intron_variant BC022968 CCDS33892.1 3q26.2 2014-06-13 2013-07-19 ENSG00000013293 ENSG00000013293 57709 Solute carriers 29326 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 142 615720 NA Standard NM_020949 NM_020949 NA Approved KIAA1613, PPP1R142 uc003fgz.2 Q8TBB6 OTTHUMG00000158941 ENST00000231706.5:c.541+35A>G chr3.hg19:g.170218862T>C NA B3KV33|Q9HCF9 hg19 CCDS33892.1 0.02 7.097572 AGTxTGC COVERED NOVEL SLC7A14-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000352598.2 0 12.032771 KEEP 0 0 0 40 1204 TT 1 1 0 - 8 60 308 0 0 20.673881 159 60 5578 256 ENST00000231706.5 0.047904 1 CLDN11 5010 __UNKNOWN__ __UNKNOWN__ 3 170425956 170425956 __UNKNOWN__ 3'UTR SNP G G C rs495979 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:170425956G>C ENST00000486975.1 + 0 714 O75508 CLD11_HUMAN claudin 11 NA NA axon ensheathment (GO:0008366)|calcium-independent cell-cell adhesion (GO:0016338)|spermatogenesis (GO:0007283) basal part of cell (GO:0045178)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923) identical protein binding (GO:0042802)|structural molecule activity (GO:0005198) central_nervous_system(2)|endometrium(2)|large_intestine(1)|liver(2)|lung(3)|ovary(2) 12 all_cancers(22;5.62e-23)|all_epithelial(15;7.54e-28)|all_lung(20;2.51e-17)|Lung NSC(18;1.02e-16)|Ovarian(172;0.000567)|Breast(254;0.137) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) GAATGGAATGGGAACGCCAAT 0.443 NA G||| 582 0.116214 0.0045 0.0677 5008 , , NA 19770 0.2063 NA 0.1412 False NA ,,, NA NA NA 2504 0.183 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF068863 CCDS3213.1 3q26.2-q26.3 2008-08-01 2008-08-01 ENSG00000013297 ENSG00000013297 5010 Claudins 8514 protein-coding gene gene with protein product 601326 oligodendrocyte transmembrane protein OTM NA 8661061, 8797478 Standard NM_005602 NM_005602 NA Approved OSP uc003fgx.3 O75508 OTTHUMG00000158940 ENST00000486975.1:c.*17G>C chr3.hg19:g.170425956G>C NA B2R7C1|D3DNQ5|Q5U0P3 hg19 0.02 32.086907 ATGxGAA COVERED NOVEL CLDN11-002 PUTATIVE basic protein_coding NA protein_coding OTTHUMT00000352414.1 5 35.813947 KEEP 0 0 0 119 4172 GG 1 1 0 + 21 60 714 0 0 38.980852 815 60 29993 1169 ENST00000486975.1 0.02512 1 TNIK 23043 __UNKNOWN__ __UNKNOWN__ 3 170946002 170946002 __UNKNOWN__ Silent SNP A A G rs17217552 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:170946002A>G ENST00000436636.2 - 3 476 c.132T>C c.(130-132)caT>caC p.H44H TNIK_ENST00000470834.1_Silent_p.H44H|TNIK_ENST00000357327.5_Silent_p.H44H|TNIK_ENST00000488470.1_Silent_p.H44H|TNIK_ENST00000284483.8_Silent_p.H44H|TNIK_ENST00000538048.1_Silent_p.H44H|TNIK_ENST00000460047.1_Silent_p.H44H|TNIK_ENST00000475336.1_Silent_p.H44H|TNIK_ENST00000341852.6_Silent_p.H44H|TNIK_ENST00000369326.5_Silent_p.H44H NM_015028.2 NP_055843.1 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase 44 Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}. NA actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083) cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2) 62 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) CCGTTTTGACATGACGACCCT 0.388 NA A||| 587 0.117212 0.1437 0.1037 5008 , , NA 20739 0.2421 NA 0.0308 False NA ,,, NA NA NA 2504 0.0511 NA NA NA NA 0 A ,,,,,,, 497,3311 29,439,1436 109 107 108 132,132,132,132,132,132,132,132 4.8 1 3 dbSNP_123 108 204,8012 4,196,3908 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous TNIK NM_001161560.1,NM_001161561.1,NM_001161562.1,NM_001161563.1,NM_001161564.1,NM_001161565.1,NM_001161566.1,NM_015028.2 ,,,,,,, 33,635,5344 GG,GA,AA 2.483,13.0515,5.83 ,,,,,,, 44/1353,44/1332,44/1324,44/1306,44/1298,44/1277,44/1269,44/1361 170946002 701,11323 1904 4108 6012 SO:0001819 synonymous_variant AF172264 CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1 3q26.31 2008-01-23 ENSG00000154310 ENSG00000154310 23043 30765 protein-coding gene gene with protein product 610005 NA 9628581, 10521462 Standard XM_039796 NR_027767 NA Approved KIAA0551 uc003fhh.2 Q9UKE5 OTTHUMG00000159036 ENST00000436636.2:c.132T>C chr3.hg19:g.170946002A>G NA A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4 hg19 CCDS46956.1 0.02 16.841074 GACxTGA COVERED NOVEL TNIK-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000352973.2 1 15.415706 KEEP 0 2 71 76 2363 AA 1 1 0 - 15 60 544 0 0 33.328283 414 60 15276 613 ENST00000436636.2 0.034965 1 PLD1 5337 __UNKNOWN__ __UNKNOWN__ 3 171362609 171362609 __UNKNOWN__ Intron SNP G G A rs9858838 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:171362609G>A ENST00000356327.5 - 21 2500 PLD1_ENST00000340989.4_Intron|PLD1_ENST00000351298.4_Intron|PLD1_ENST00000342215.6_Intron NM_001130081.2 NP_001123553.1 Q13393 PLD1_HUMAN phospholipase D1, phosphatidylcholine-specific NA NA chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281) endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020) N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630) breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 63 all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) Choline(DB00122) CCACTCCACCGAATGGATGTG 0.393 NA G||| 40 0.00798722 0.0265 0.0029 5008 , , NA 19479 0.0 NA 0.003 False NA ,,, NA NA NA 2504 0.0 NA NA NA NSCLC(149;2174 3517 34058) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U38545 CCDS3216.1, CCDS46957.1 3q26 2013-01-10 2006-02-17 ENSG00000075651 ENSG00000075651 5337 3.1.4.4 Pleckstrin homology (PH) domain containing 9067 protein-coding gene gene with protein product choline phosphatase 1 602382 NA 9858822, 8530346 Standard NM_002662 NM_002662 NA Approved uc003fhs.3 Q13393 OTTHUMG00000156947 ENST00000356327.5:c.2429+90C>T chr3.hg19:g.171362609G>A NA hg19 CCDS46957.1 0.02 3.971201 ACCxAAT COVERED NOVEL PLD1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000346777.1 1 8.1242 KEEP 0 0 0 27 867 GG 0.999988 0.999987 0 - 5 60 179 0 0 11.15715 121 60 3996 170 ENST00000356327.5 0.039683 1 PLD1 5337 __UNKNOWN__ __UNKNOWN__ 3 171451212 171451212 __UNKNOWN__ Intron SNP T T G rs374915280 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:171451212T>G ENST00000356327.5 - 6 677 PLD1_ENST00000340989.4_Intron|PLD1_ENST00000351298.4_Intron|PLD1_ENST00000342215.6_Intron NM_001130081.2 NP_001123553.1 Q13393 PLD1_HUMAN phospholipase D1, phosphatidylcholine-specific NA NA chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281) endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020) N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630) breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 63 all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) Choline(DB00122) ACTCCAAACTTAAATCACTGA 0.318 NA NA NA NA NA NA NA NA NA NA NSCLC(149;2174 3517 34058) NA 0 102 100 101 NA NA 3 NA 171451212 2201 4295 6496 SO:0001627 intron_variant U38545 CCDS3216.1, CCDS46957.1 3q26 2013-01-10 2006-02-17 ENSG00000075651 ENSG00000075651 5337 3.1.4.4 Pleckstrin homology (PH) domain containing 9067 protein-coding gene gene with protein product choline phosphatase 1 602382 NA 9858822, 8530346 Standard NM_002662 NM_002662 NA Approved uc003fhs.3 Q13393 OTTHUMG00000156947 ENST00000356327.5:c.606+21A>C chr3.hg19:g.171451212T>G NA hg19 CCDS46957.1 0.02 9.352095 ACTxAAA COVERED NOVEL PLD1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000346777.1 0 8.724225 KEEP 0 0 0 29 881 TT 0.999997 0.999997 0 - 12 60 458 0 0 31.683107 193 60 7016 289 ENST00000356327.5 0.058537 1 FNDC3B 64778 __UNKNOWN__ __UNKNOWN__ 3 172034350 172034350 __UNKNOWN__ Intron SNP T T C rs4894416 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:172034350T>C ENST00000336824.4 + 11 1353 FNDC3B_ENST00000415807.2_Intron|AC092964.1_ENST00000366261.2_Intron|FNDC3B_ENST00000416957.1_Intron NM_001135095.1 NP_001128567.1 Q53EP0 FND3B_HUMAN fibronectin type III domain containing 3B NA NA cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) poly(A) RNA binding (GO:0044822) breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 69 all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GBM - Glioblastoma multiforme(1;0.0494) AAATAAGAACTTTTTATTTTA 0.299 NA T||| 729 0.145567 0.0136 0.2277 5008 , , NA 16701 0.2897 NA 0.0885 False NA ,,, NA NA NA 2504 0.1759 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF543840 CCDS3217.1 3q26.31 2013-11-06 ENSG00000075420 ENSG00000075420 64778 Fibronectin type III domain containing 24670 protein-coding gene gene with protein product 611909 NA 15527760 Standard NM_022763 NM_022763 NA Approved FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421 uc003fhy.3 Q53EP0 OTTHUMG00000156761 ENST00000336824.4:c.1254+5679T>C chr3.hg19:g.172034350T>C NA B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8 hg19 CCDS3217.1 0.02 -0.298283 AACxTTT COVERED NOVEL FNDC3B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000345618.2 0 9.01365 KEEP 0 0 0 30 927 TT 0.999997 0.781058 0 + 3 60 116 0 0 8.625233 31 60 1108 65 ENST00000336824.4 0.088235 0.78106 FNDC3B 64778 __UNKNOWN__ __UNKNOWN__ 3 172034901 172034901 __UNKNOWN__ Intron SNP T T G rs34251104 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:172034901T>G ENST00000336824.4 + 11 1353 FNDC3B_ENST00000415807.2_Intron|AC092964.1_ENST00000366261.2_Intron|FNDC3B_ENST00000416957.1_Intron NM_001135095.1 NP_001128567.1 Q53EP0 FND3B_HUMAN fibronectin type III domain containing 3B NA NA cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) poly(A) RNA binding (GO:0044822) breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 69 all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GBM - Glioblastoma multiforme(1;0.0494) ccttgtgacctaatcaccttt 0.368 NA T||| 782 0.15615 0.0144 0.2464 5008 , , NA 20219 0.3026 NA 0.1074 False NA ,,, NA NA NA 2504 0.183 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF543840 CCDS3217.1 3q26.31 2013-11-06 ENSG00000075420 ENSG00000075420 64778 Fibronectin type III domain containing 24670 protein-coding gene gene with protein product 611909 NA 15527760 Standard NM_022763 NM_022763 NA Approved FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421 uc003fhy.3 Q53EP0 OTTHUMG00000156761 ENST00000336824.4:c.1254+6230T>G chr3.hg19:g.172034901T>G NA B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8 hg19 CCDS3217.1 0.02 6.833338 ACCxAAT COVERED NOVEL FNDC3B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000345618.2 15 54.159116 KEEP 0 0 0 180 5542 TT 1 1 0 + 8 60 274 0 0 17.380623 155 60 5775 472 ENST00000336824.4 0.04908 1 FNDC3B 64778 __UNKNOWN__ __UNKNOWN__ 3 172064091 172064091 __UNKNOWN__ Intron SNP G G A rs583550 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:172064091G>A ENST00000336824.4 + 20 2349 FNDC3B_ENST00000415807.2_Intron|FNDC3B_ENST00000416957.1_Intron NM_001135095.1 NP_001128567.1 Q53EP0 FND3B_HUMAN fibronectin type III domain containing 3B NA NA cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) poly(A) RNA binding (GO:0044822) breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 69 all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GBM - Glioblastoma multiforme(1;0.0494) atatacatacGTGTGTGTGCG 0.393 NA g||| 1818 0.363019 0.2912 0.4207 5008 , , NA 19483 0.2927 NA 0.5328 False NA ,,, NA NA NA 2504 0.317 NA NA NA NA 0 A , 1447,2959 469.2+/-355.4 234,979,990 111 97 102 , -5 0 3 dbSNP_83 102 5009,3591 628.0+/-398.1 1465,2079,756 no intron,intron FNDC3B NM_001135095.1,NM_022763.3 , 1699,3058,1746 AA,AG,GG 41.7558,32.8416,49.6386 , , 172064091 6456,6550 2203 4300 6503 SO:0001627 intron_variant AF543840 CCDS3217.1 3q26.31 2013-11-06 ENSG00000075420 ENSG00000075420 64778 Fibronectin type III domain containing 24670 protein-coding gene gene with protein product 611909 NA 15527760 Standard NM_022763 NM_022763 NA Approved FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421 uc003fhy.3 Q53EP0 OTTHUMG00000156761 ENST00000336824.4:c.2251-26G>A chr3.hg19:g.172064091G>A NA B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8 hg19 CCDS3217.1 0.02 6.57226 TACxTGT COVERED NOVEL FNDC3B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000345618.2 1 13.842337 KEEP 0 0 0 46 1499 GG 1 1 0 + 12 60 441 0 0 30.992781 158 60 5247 240 ENST00000336824.4 0.070588 1 GHSR 2693 __UNKNOWN__ __UNKNOWN__ 3 172165727 172165727 __UNKNOWN__ Silent SNP C C T rs572169 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:172165727C>T ENST00000241256.2 - 1 519 c.477G>A c.(475-477)cgG>cgA p.R159R GHSR_ENST00000427970.1_Silent_p.R159R NM_198407.2 NP_940799.1 Q92847 GHSR_HUMAN growth hormone secretagogue receptor 159 NA actin polymerization or depolymerization (GO:0008154)|adult feeding behavior (GO:0008343)|cellular response to insulin stimulus (GO:0032869)|decidualization (GO:0046697)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone secretion (GO:0030252)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin secretion (GO:0046676)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of appetite (GO:0032100)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of hindgut contraction (GO:0043134)|regulation of synapse assembly (GO:0051963)|response to food (GO:0032094)|response to hormone (GO:0009725) cell surface (GO:0009986)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|growth hormone secretagogue receptor activity (GO:0001616)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046) biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 33 Ovarian(172;0.00143)|Breast(254;0.197) Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) CCAGCTTCACCCGCCCCTTGG 0.652 NA C||| 1192 0.238019 0.056 0.2882 5008 , , NA 19121 0.4236 NA 0.2763 False NA ,,, NA NA NA 2504 0.2178 NA NA NA Esophageal Squamous(93;641 1401 20883 29581 34638) NA 0 C , 387,4019 191.9+/-217.4 16,355,1832 56 56 56 http://www.ncbi.nlm.nih.gov/pubmed?term 477,477 -2.7 1 3 dbSNP_83 56 2612,5988 419.8+/-353.2 370,1872,2058 yes coding-synonymous,coding-synonymous GHSR NM_004122.2,NM_198407.2 , 386,2227,3890 TT,TC,CC http://www.ncbi.nlm.nih.gov/pubmed?term 30.3721,8.7835,23.0586 , 159/290,159/367 172165727 2999,10007 2203 4300 6503 SO:0001819 synonymous_variant AY429112 CCDS3218.1, CCDS46959.1 3q26.31 2012-08-08 ENSG00000121853 ENSG00000121853 2693 GPCR / Class A : Ghrelin receptors 4267 protein-coding gene gene with protein product 601898 NA 8688086 Standard NM_004122 NM_198407 NA Approved uc003fib.2 Q92847 OTTHUMG00000156946 ENST00000241256.2:c.477G>A chr3.hg19:g.172165727C>T NA Q14D12|Q6ISR8|Q92848|Q96RJ7 hg19 CCDS3218.1 0.02 16.355228 CACxCGC COVERED NOVEL GHSR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000346728.1 1 7.358209 KEEP 0 1 33 36 1249 CC 1 1 0 - 18 60 667 0 0 44.262582 342 60 12534 498 ENST00000241256.2 0.05 1 GHSR 2693 __UNKNOWN__ __UNKNOWN__ 3 172165994 172165994 __UNKNOWN__ Silent SNP G G A rs200978184 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:172165994G>A ENST00000241256.2 - 1 252 c.210C>T c.(208-210)cgC>cgT p.R70R GHSR_ENST00000427970.1_Silent_p.R70R NM_198407.2 NP_940799.1 Q92847 GHSR_HUMAN growth hormone secretagogue receptor 70 NA actin polymerization or depolymerization (GO:0008154)|adult feeding behavior (GO:0008343)|cellular response to insulin stimulus (GO:0032869)|decidualization (GO:0046697)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone secretion (GO:0030252)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin secretion (GO:0046676)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of appetite (GO:0032100)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of hindgut contraction (GO:0043134)|regulation of synapse assembly (GO:0051963)|response to food (GO:0032094)|response to hormone (GO:0009725) cell surface (GO:0009986)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|growth hormone secretagogue receptor activity (GO:0001616)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046) biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 33 Ovarian(172;0.00143)|Breast(254;0.197) Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) GCTCGCGGAAGCGCGACACCA 0.652 NA G||| 11 0.00219649 0.0 0.0 5008 , , NA 17992 0.0 NA 0.0 False NA ,,, NA NA NA 2504 0.0112 NA NA NA Esophageal Squamous(93;641 1401 20883 29581 34638) NA 0 73 61 65 NA NA 3 NA 172165994 2203 4300 6503 SO:0001819 synonymous_variant AY429112 CCDS3218.1, CCDS46959.1 3q26.31 2012-08-08 ENSG00000121853 ENSG00000121853 2693 GPCR / Class A : Ghrelin receptors 4267 protein-coding gene gene with protein product 601898 NA 8688086 Standard NM_004122 NM_198407 NA Approved uc003fib.2 Q92847 OTTHUMG00000156946 ENST00000241256.2:c.210C>T chr3.hg19:g.172165994G>A NA Q14D12|Q6ISR8|Q92848|Q96RJ7 hg19 CCDS3218.1 0.02 16.975349 GAAxCGC COVERED NOVEL GHSR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000346728.1 2 14.139976 KEEP 0 0 0 47 1664 GG 1 1 0 - 19 60 649 0 0 40.566877 395 60 14463 563 ENST00000241256.2 0.045894 1 TNFSF10 8743 __UNKNOWN__ __UNKNOWN__ 3 172223817 172223817 __UNKNOWN__ 3'UTR SNP C C G rs562171373 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:172223817C>G ENST00000420541.2 - 0 1253 TNFSF10_ENST00000241261.2_3'UTR NM_001190942.1 NP_001177871.1 P50591 TNF10_HUMAN tumor necrosis factor (ligand) superfamily, member 10 NA NA activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|male gonad development (GO:0008584)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to insulin (GO:0032868)|signal transduction (GO:0007165) extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887) metal ion binding (GO:0046872)|receptor binding (GO:0005102) breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4) 15 Ovarian(172;0.00197)|Breast(254;0.158) Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) accaggcAAACTGCGATCTTT 0.463 NA C||| 10 0.00199681 0.0 0.0 5008 , , NA 20190 0.0 NA 0.0 False NA ,,, NA NA NA 2504 0.0102 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U37518 CCDS3219.1, CCDS54680.1 3q26 2006-09-20 ENSG00000121858 ENSG00000121858 8743 Tumor necrosis factor (ligand) superfamily, CD molecules 11925 protein-coding gene gene with protein product 603598 NA 8777713, 8663110 Standard NM_003810 NA Approved TRAIL, Apo-2L, TL2, CD253 uc003fid.3 P50591 OTTHUMG00000156917 ENST00000420541.2:c.*857G>C chr3.hg19:g.172223817C>G NA A1Y9B3 hg19 CCDS54680.1 0.02 2.071535 AAAxTGC COVERED NOVEL TNFSF10-002 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000346602.1 0 7.514442 KEEP 0 0 0 25 850 CC 0.999931 0.999825 0 - 5 60 186 0 0 12.529029 88 60 3326 127 ENST00000420541.2 0.053763 0.999895 TNFSF10 8743 __UNKNOWN__ __UNKNOWN__ 3 172240999 172240999 __UNKNOWN__ Intron SNP T T G rs2270418 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:172240999T>G ENST00000420541.2 - 1 223 TNFSF10_ENST00000241261.2_Intron NM_001190942.1 NP_001177871.1 P50591 TNF10_HUMAN tumor necrosis factor (ligand) superfamily, member 10 NA NA activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|male gonad development (GO:0008584)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to insulin (GO:0032868)|signal transduction (GO:0007165) extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887) metal ion binding (GO:0046872)|receptor binding (GO:0005102) breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4) 15 Ovarian(172;0.00197)|Breast(254;0.158) Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) TAACCAGACATTTGCTAAGCG 0.488 NA G||| 1351 0.269768 0.0923 0.196 5008 , , NA 21183 0.5536 NA 0.1501 False NA ,,, NA NA NA 2504 0.3926 NA NA NA NA 0 G ,, 613,3793 768.5+/-413.6 45,523,1635 67 64 65 ,, 1.4 0 3 dbSNP_100 65 1429,7171 751.2+/-407.4 122,1185,2993 no intron,intron,intron TNFSF10 NM_001190942.1,NM_001190943.1,NM_003810.3 ,, 167,1708,4628 GG,GT,TT 16.6163,13.9128,15.7004 ,, ,, 172240999 2042,10964 2203 4300 6503 SO:0001627 intron_variant U37518 CCDS3219.1, CCDS54680.1 3q26 2006-09-20 ENSG00000121858 ENSG00000121858 8743 Tumor necrosis factor (ligand) superfamily, CD molecules 11925 protein-coding gene gene with protein product 603598 NA 8777713, 8663110 Standard NM_003810 NA Approved TRAIL, Apo-2L, TL2, CD253 uc003fid.3 P50591 OTTHUMG00000156917 ENST00000420541.2:c.132+43A>C chr3.hg19:g.172240999T>G NA A1Y9B3 hg19 CCDS54680.1 0.02 4.962403 ACAxTTG COVERED NOVEL TNFSF10-002 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000346602.1 1 4.510918 KEEP 0 0 0 15 422 TT 0.99649 0.996472 0 - 9 60 344 0 0 25.397153 95 60 3446 122 ENST00000420541.2 0.086538 0.999981 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 172321434 172321434 __UNKNOWN__ IGR SNP G G T rs16845891 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:172321434G>T NA NA RP11-408H1.3 (8974 upstream) : NCEH1 (26604 downstream) NA NA NA CAACAGTTTTGTGTGTCTACA 0.493 NA G||| 1285 0.256589 0.1384 0.2997 5008 , , NA 22471 0.3839 NA 0.1759 False NA ,,, NA NA NA 2504 0.3374 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.172321434G>T NA hg19 0.02 4.762638 TTTxTGT COVERED NOVEL 0 1 5.718865 KEEP 0 0 0 19 688 GG 0.99986 0.999841 0 8 60 304 0 0 21.970463 96 60 3605 145 0.076923 0.999981 NCEH1 57552 __UNKNOWN__ __UNKNOWN__ 3 172349536 172349536 __UNKNOWN__ 3'UTR SNP G G T rs527953585 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:172349536G>T ENST00000475381.1 - 0 3189 NCEH1_ENST00000543711.1_3'UTR|NCEH1_ENST00000538775.1_3'UTR|NCEH1_ENST00000273512.3_3'UTR Q6PIU2 NCEH1_HUMAN neutral cholesterol ester hydrolase 1 NA NA lipid catabolic process (GO:0016042)|protein dephosphorylation (GO:0006470)|xenobiotic metabolic process (GO:0006805) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020) carboxylic ester hydrolase activity (GO:0052689)|phosphate ion binding (GO:0042301)|serine hydrolase activity (GO:0017171) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1) 15 CTTTTCATTTGTTATTTCGTT 0.413 NA G||| 3 0.000599042 0.0 0.0 5008 , , NA 22733 0.003 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB037784 CCDS54681.1, CCDS54682.1 3q26.31 2009-07-23 2009-07-23 2009-07-23 ENSG00000144959 ENSG00000144959 57552 29260 protein-coding gene gene with protein product 613234 arylacetamide deacetylase-like 1 AADACL1 NA 10718198 Standard NM_020792 NM_001146276 NA Approved KIAA1363, NCEH uc011bpx.2 Q6PIU2 OTTHUMG00000156872 ENST00000475381.1:c.*1729C>A chr3.hg19:g.172349536G>T NA B7Z2K4|B7Z3A1|B7Z5U2|B7Z906|B7ZAW6|F5H7K4|Q86WZ1|Q9P2I4 hg19 0.02 8.308767 TTTxTTA COVERED NOVEL NCEH1-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000346367.3 1 8.126184 KEEP 0 0 0 27 938 GG 0.999988 0.999988 0 - 8 60 293 0 0 17.997191 225 60 8389 281 ENST00000475381.1 0.034335 1 NCEH1 57552 __UNKNOWN__ __UNKNOWN__ 3 172349553 172349553 __UNKNOWN__ 3'UTR SNP A A G rs556227894 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:172349553A>G ENST00000475381.1 - 0 3172 NCEH1_ENST00000543711.1_3'UTR|NCEH1_ENST00000538775.1_3'UTR|NCEH1_ENST00000273512.3_3'UTR Q6PIU2 NCEH1_HUMAN neutral cholesterol ester hydrolase 1 NA NA lipid catabolic process (GO:0016042)|protein dephosphorylation (GO:0006470)|xenobiotic metabolic process (GO:0006805) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020) carboxylic ester hydrolase activity (GO:0052689)|phosphate ion binding (GO:0042301)|serine hydrolase activity (GO:0017171) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1) 15 CGTTGCTGGAAGTGGGAAATA 0.433 NA A||| 3 0.000599042 0.0 0.0 5008 , , NA 22481 0.003 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB037784 CCDS54681.1, CCDS54682.1 3q26.31 2009-07-23 2009-07-23 2009-07-23 ENSG00000144959 ENSG00000144959 57552 29260 protein-coding gene gene with protein product 613234 arylacetamide deacetylase-like 1 AADACL1 NA 10718198 Standard NM_020792 NM_001146276 NA Approved KIAA1363, NCEH uc011bpx.2 Q6PIU2 OTTHUMG00000156872 ENST00000475381.1:c.*1712T>C chr3.hg19:g.172349553A>G NA B7Z2K4|B7Z3A1|B7Z5U2|B7Z906|B7ZAW6|F5H7K4|Q86WZ1|Q9P2I4 hg19 0.02 9.558729 GGAxGTG COVERED NOVEL NCEH1-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000346367.3 2 8.700438 KEEP 0 0 0 29 903 AA 0.999997 0.999997 0 - 11 60 425 0 0 28.633407 216 60 7892 283 ENST00000475381.1 0.048458 1 NLGN1 22871 __UNKNOWN__ __UNKNOWN__ 3 173323278 173323278 __UNKNOWN__ Intron SNP A A G rs3853390 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:173323278A>G ENST00000457714.1 + 3 922 NLGN1_ENST00000361589.4_Intron|NLGN1_ENST00000401917.3_Intron|NLGN1_ENST00000545397.1_Intron NM_014932.2 NP_055747.1 Q8N2Q7 NLGN1_HUMAN neuroligin 1 NA NA alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553) cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202) cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) CCGGCGGTCTATGATGGAGCG 0.423 NA G||| 824 0.164537 0.1672 0.0922 5008 , , NA 18900 0.1825 NA 0.1382 False NA ,,, NA NA NA 2504 0.2209 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB028993 CCDS3222.1 3q26.32 2008-07-18 ENSG00000169760 ENSG00000169760 22871 14291 protein-coding gene gene with protein product 600568 NA 10767552, 10819331 Standard NM_014932 NM_014932 NA Approved KIAA1070 uc003fio.1 Q8N2Q7 OTTHUMG00000157005 ENST00000457714.1:c.493+397A>G chr3.hg19:g.173323278A>G NA Q9UPT2 hg19 CCDS3222.1 0.02 8.970833 TCTxTGA COVERED NOVEL NLGN1-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000347054.3 1 10.529477 KEEP 0 0 0 35 1050 AA 0.999999 0.999999 0 + 7 60 263 0 0 16.422259 196 60 7078 294 ENST00000457714.1 0.034483 1 NAALADL2 254827 __UNKNOWN__ __UNKNOWN__ 3 174581888 174581888 __UNKNOWN__ Intron SNP T T C rs6445184 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:174581888T>C ENST00000454872.1 + 1 171 NAALADL2_ENST00000473253.1_Intron NM_207015.2 NP_996898.2 Q58DX5 NADL2_HUMAN N-acetylated alpha-linked acidic dipeptidase-like 2 NA NA integral component of membrane (GO:0016021) central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 49 Ovarian(172;0.0102) all_cancers(1;0.0272)|all_epithelial(1;0.0553) OV - Ovarian serous cystadenocarcinoma(80;9.26e-28) Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284) AAGGTGAGTCTGACCTAAATG 0.408 NA C||| 3784 0.755591 0.8918 0.683 5008 , , NA 19947 0.8333 NA 0.6332 False NA ,,, NA NA NA 2504 0.6687 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS46960.1 3q26.3 2011-08-16 ENSG00000177694 ENSG00000177694 254827 23219 protein-coding gene gene with protein product glutamate carboxypeptidase II-type non-peptidase homologue 608806 NA 15168106 Standard NM_207015 NM_207015 NA Approved uc003fir.3 Q58DX5 OTTHUMG00000157120 ENST00000454872.1:c.43+4648T>C chr3.hg19:g.174581888T>C NA Q658X9|Q6H9J8|Q6H9J9|Q6PG38 hg19 CCDS46960.1 0.02 18.575071 GTCxGAC COVERED NOVEL NAALADL2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347390.2 2 11.203982 KEEP 0 2 71 62 1971 TT 1 1 0 + 18 60 634 0 0 38.66016 463 60 17386 672 ENST00000454872.1 0.037422 1 KCNMB2 10242 __UNKNOWN__ __UNKNOWN__ 3 178561858 178561858 __UNKNOWN__ 3'UTR SNP A A G rs56135244 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:178561858A>G ENST00000432997.1 + 0 2193 KCNMB2_ENST00000358316.3_3'UTR|RP11-385J1.2_ENST00000437488.1_RNA|RP11-385J1.2_ENST00000451742.1_RNA|RP11-385J1.2_ENST00000425330.1_RNA|RP11-385J1.2_ENST00000432385.1_RNA NM_001278911.1 NP_001265840.1 Q9NPA1 KCMB3_HUMAN potassium large conductance calcium-activated channel, subfamily M, beta member 2 NA NA action potential (GO:0001508)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|neuronal action potential (GO:0019228)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076) calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459) NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 12 all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125) OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841) Miconazole(DB01110)|Procaine(DB00721) TGAATAACAGACTTAAAGAAA 0.254 NA A||| 516 0.103035 0.0635 0.1513 5008 , , NA 16372 0.0149 NA 0.17 False NA ,,, NA NA NA 2504 0.1442 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF099137 CCDS3223.1 3q26.32 2005-10-13 ENSG00000197584 ENSG00000197584 10242 Potassium channels 6286 protein-coding gene gene with protein product 605214 NA 10097176 Standard NM_181361 NM_181361 NA Approved uc003fjd.3 Q9Y691 OTTHUMG00000157264 ENST00000432997.1:c.*1133A>G chr3.hg19:g.178561858A>G NA B7Z9C9|D3DNR2|E9PER5|Q9NPG7|Q9NRM9|Q9UHN3 hg19 CCDS3223.1 0.02 14.282257 CAGxCTT COVERED NOVEL KCNMB2-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000348251.1 2 18.356817 KEEP 0 0 0 61 1983 AA 1 1 0 + 20 60 740 0 0 51.267974 293 60 10495 481 ENST00000432997.1 0.063898 1 PIK3CA 5290 __UNKNOWN__ __UNKNOWN__ 3 178957505 178957505 __UNKNOWN__ 3'UTR SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:178957505C>T ENST00000263967.3 + 0 8717 NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha NA NA angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944) 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886) 1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) Caffeine(DB00201) CACCTGGAAGCTTTATCAAGA 0.368 57 Mis colorectal, gastric, gliobastoma, breast HNSCC(19;0.045)|TSP Lung(28;0.18) NA NA NA NA NA NA NA NA NA Colon(199;1504 1750 3362 26421 31210 32040) Dom yes 3 3q26.3 5290 phosphoinositide-3-kinase, catalytic, alpha polypeptide E, O 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS43171.1 3q26.3 2014-09-17 2012-07-13 ENSG00000121879 ENSG00000121879 5290 2.7.1.153 8975 protein-coding gene gene with protein product 171834 phosphoinositide-3-kinase, catalytic, alpha polypeptide NA 1322797 Standard NM_006218 NA Approved PI3K uc003fjk.3 P42336 OTTHUMG00000157311 ENST00000263967.3:c.*5353C>T chr3.hg19:g.178957505C>T NA Q14CW1|Q99762 hg19 CCDS43171.1 0.02 28.159101 AAGxTTT COVERED NOVEL PIK3CA-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000348409.2 2 29.155006 KEEP 84 5 154 151 5514 CC 1 1 0 + 27 49 943 0 0 56.046451 767 60 29159 1232 ENST00000263967.3 0.034005 1 KCNMB3 27094 __UNKNOWN__ __UNKNOWN__ 3 178976178 178976178 __UNKNOWN__ Intron SNP A A T rs12633724 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:178976178A>T ENST00000349697.2 - 2 323 KCNMB3_ENST00000485523.1_Intron|KCNMB3_ENST00000497599.1_Intron NM_171828.1 NP_741979.1 Q9NPA1 KCMB3_HUMAN potassium large conductance calcium-activated channel, subfamily M beta member 3 NA NA action potential (GO:0001508)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|neuronal action potential (GO:0019228)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076) calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459) NS(1)|large_intestine(1)|lung(2)|stomach(1) 5 all_cancers(143;5.6e-17)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;2.41e-27)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.03) Miconazole(DB01110)|Procaine(DB00721) TCAAAGACTTATATGAGGTGA 0.328 NA A||| 2777 0.554513 0.2231 0.6311 5008 , , NA 16408 0.8889 NA 0.5109 False NA ,,, NA NA NA 2504 0.6483 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF139471 CCDS3225.1, CCDS3226.1, CCDS43172.1, CCDS43173.1, CCDS54683.1 3q26.3-q27 2010-09-30 ENSG00000171121 ENSG00000171121 27094 Potassium channels 6287 protein-coding gene gene with protein product 605222 KCNMB2, KCNMBL NA 10585773 Standard NM_001163677 NA Approved uc003fjm.3 Q9NPA1 OTTHUMG00000157337 ENST00000349697.2:c.63-7456T>A chr3.hg19:g.178976178A>T NA B7Z9C9|D3DNR2|E9PER5|Q9NPG7|Q9NRM9|Q9UHN3 hg19 CCDS3225.1 0.02 4.445634 CTTxTAT COVERED NOVEL KCNMB3-007 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000358530.1 1 3.309946 KEEP 0 0 0 11 347 AA 0.993072 0.993059 0 - 9 60 326 0 0 23.519762 97 60 3497 122 ENST00000349697.2 0.084906 0.999987 KCNMB3 27094 __UNKNOWN__ __UNKNOWN__ 3 178976777 178976777 __UNKNOWN__ Intron SNP C C T rs11720871 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:178976777C>T ENST00000349697.2 - 1 323 KCNMB3_ENST00000485523.1_5'UTR|KCNMB3_ENST00000497599.1_Intron NM_171828.1 NP_741979.1 Q9NPA1 KCMB3_HUMAN potassium large conductance calcium-activated channel, subfamily M beta member 3 NA NA action potential (GO:0001508)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|neuronal action potential (GO:0019228)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076) calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459) NS(1)|large_intestine(1)|lung(2)|stomach(1) 5 all_cancers(143;5.6e-17)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;2.41e-27)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.03) Miconazole(DB01110)|Procaine(DB00721) CTCAGACTTCCTGTGCACCAC 0.493 NA C||| 2777 0.554513 0.2231 0.6311 5008 , , NA 19187 0.8889 NA 0.5109 False NA ,,, NA NA NA 2504 0.6483 NA NA NA NA 0 C ,, 1101,3305 380.9+/-323.9 140,821,1242 71 77 75 ,, -1.8 0.3 3 dbSNP_120 75 4239,4361 562.4+/-387.9 1034,2171,1095 no intron,intron,utr-5 KCNMB3 NM_001163677.1,NM_171828.1,NM_171829.2 ,, 1174,2992,2337 TT,TC,CC 49.2907,24.9887,41.058 ,, ,, 178976777 5340,7666 2203 4300 6503 SO:0001627 intron_variant AF139471 CCDS3225.1, CCDS3226.1, CCDS43172.1, CCDS43173.1, CCDS54683.1 3q26.3-q27 2010-09-30 ENSG00000171121 ENSG00000171121 27094 Potassium channels 6287 protein-coding gene gene with protein product 605222 KCNMB2, KCNMBL NA 10585773 Standard NM_001163677 NA Approved uc003fjm.3 Q9NPA1 OTTHUMG00000157337 ENST00000349697.2:c.62+7659G>A chr3.hg19:g.178976777C>T NA B7Z9C9|D3DNR2|E9PER5|Q9NPG7|Q9NRM9|Q9UHN3 hg19 CCDS3225.1 0.02 23.568614 TTCxTGT COVERED NOVEL KCNMB3-007 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000358530.1 4 18.531052 KEEP 0 2 67 85 3054 CC 1 1 0 - 39 60 1368 0 0 95.626912 474 60 17745 722 ENST00000349697.2 0.076023 1 KCNMB3 27094 __UNKNOWN__ __UNKNOWN__ 3 178976821 178976821 __UNKNOWN__ Intron SNP G G A rs11720935 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:178976821G>A ENST00000349697.2 - 1 323 KCNMB3_ENST00000485523.1_5'UTR|KCNMB3_ENST00000497599.1_Intron NM_171828.1 NP_741979.1 Q9NPA1 KCMB3_HUMAN potassium large conductance calcium-activated channel, subfamily M beta member 3 NA NA action potential (GO:0001508)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|neuronal action potential (GO:0019228)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076) calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459) NS(1)|large_intestine(1)|lung(2)|stomach(1) 5 all_cancers(143;5.6e-17)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;2.41e-27)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.03) Miconazole(DB01110)|Procaine(DB00721) GACATGGTACGGTCTTCTTTG 0.537 NA G||| 2776 0.554313 0.2231 0.6297 5008 , , NA 19827 0.8889 NA 0.5109 False NA ,,, NA NA NA 2504 0.6483 NA NA NA NA 0 G ,, 334,1050 36,262,394 81 71 74 ,, -0.2 0.1 3 dbSNP_120 74 1524,1658 358,808,425 no intron,intron,utr-5 KCNMB3 NM_001163677.1,NM_171828.1,NM_171829.2 ,, 394,1070,819 AA,AG,GG 47.8944,24.1329,40.6921 ,, ,, 178976821 1858,2708 692 1591 2283 SO:0001627 intron_variant AF139471 CCDS3225.1, CCDS3226.1, CCDS43172.1, CCDS43173.1, CCDS54683.1 3q26.3-q27 2010-09-30 ENSG00000171121 ENSG00000171121 27094 Potassium channels 6287 protein-coding gene gene with protein product 605222 KCNMB2, KCNMBL NA 10585773 Standard NM_001163677 NA Approved uc003fjm.3 Q9NPA1 OTTHUMG00000157337 ENST00000349697.2:c.62+7615C>T chr3.hg19:g.178976821G>A NA B7Z9C9|D3DNR2|E9PER5|Q9NPG7|Q9NRM9|Q9UHN3 hg19 CCDS3225.1 0.02 19.478705 TACxGTC COVERED NOVEL KCNMB3-007 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000358530.1 2 14.014033 KEEP 0 2 64 69 2316 GG 1 1 0 - 34 60 1274 0 0 92.630569 379 60 13090 540 ENST00000349697.2 0.082324 1 KCNMB3 27094 __UNKNOWN__ __UNKNOWN__ 3 178978328 178978328 __UNKNOWN__ Intron SNP C C T rs62410371 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:178978328C>T ENST00000349697.2 - 1 323 KCNMB3_ENST00000497599.1_Intron NM_171828.1 NP_741979.1 Q9NPA1 KCMB3_HUMAN potassium large conductance calcium-activated channel, subfamily M beta member 3 NA NA action potential (GO:0001508)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|neuronal action potential (GO:0019228)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076) calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459) NS(1)|large_intestine(1)|lung(2)|stomach(1) 5 all_cancers(143;5.6e-17)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;2.41e-27)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.03) Miconazole(DB01110)|Procaine(DB00721) TCACCTCCACCTCACTGGCTT 0.453 NA T||| 2781 0.555312 0.2262 0.6311 5008 , , NA 22275 0.8889 NA 0.5109 False NA ,,, NA NA NA 2504 0.6483 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF139471 CCDS3225.1, CCDS3226.1, CCDS43172.1, CCDS43173.1, CCDS54683.1 3q26.3-q27 2010-09-30 ENSG00000171121 ENSG00000171121 27094 Potassium channels 6287 protein-coding gene gene with protein product 605222 KCNMB2, KCNMBL NA 10585773 Standard NM_001163677 NA Approved uc003fjm.3 Q9NPA1 OTTHUMG00000157337 ENST00000349697.2:c.62+6108G>A chr3.hg19:g.178978328C>T NA B7Z9C9|D3DNR2|E9PER5|Q9NPG7|Q9NRM9|Q9UHN3 hg19 CCDS3225.1 0.02 4.595939 CACxTCA COVERED NOVEL KCNMB3-007 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000358530.1 1 9.630765 KEEP 0 0 0 32 1113 CC 0.999997 0.999997 0 - 12 60 439 0 0 32.551404 111 60 4107 180 ENST00000349697.2 0.097561 0.999999 KCNMB3 27094 __UNKNOWN__ __UNKNOWN__ 3 178978542 178978542 __UNKNOWN__ Intron SNP G G A rs62410372 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:178978542G>A ENST00000349697.2 - 1 323 KCNMB3_ENST00000497599.1_Intron NM_171828.1 NP_741979.1 Q9NPA1 KCMB3_HUMAN potassium large conductance calcium-activated channel, subfamily M beta member 3 NA NA action potential (GO:0001508)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|neuronal action potential (GO:0019228)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076) calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459) NS(1)|large_intestine(1)|lung(2)|stomach(1) 5 all_cancers(143;5.6e-17)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;2.41e-27)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.03) Miconazole(DB01110)|Procaine(DB00721) TGAAACTGCAGTATACTGTGG 0.408 NA G||| 2781 0.555312 0.2262 0.6297 5008 , , NA 20801 0.8889 NA 0.5119 False NA ,,, NA NA NA 2504 0.6483 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF139471 CCDS3225.1, CCDS3226.1, CCDS43172.1, CCDS43173.1, CCDS54683.1 3q26.3-q27 2010-09-30 ENSG00000171121 ENSG00000171121 27094 Potassium channels 6287 protein-coding gene gene with protein product 605222 KCNMB2, KCNMBL NA 10585773 Standard NM_001163677 NA Approved uc003fjm.3 Q9NPA1 OTTHUMG00000157337 ENST00000349697.2:c.62+5894C>T chr3.hg19:g.178978542G>A NA B7Z9C9|D3DNR2|E9PER5|Q9NPG7|Q9NRM9|Q9UHN3 hg19 CCDS3225.1 0.02 4.179103 GCAxTAT COVERED NOVEL KCNMB3-007 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000358530.1 2 11.070378 KEEP 0 1 32 48 1683 GG 1 0.999999 0 - 10 60 361 0 0 25.778135 114 60 4321 208 ENST00000349697.2 0.080645 0.999999 KCNMB3 27094 __UNKNOWN__ __UNKNOWN__ 3 178978604 178978604 __UNKNOWN__ Intron SNP T T G rs7429685 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:178978604T>G ENST00000349697.2 - 1 323 KCNMB3_ENST00000497599.1_Intron NM_171828.1 NP_741979.1 Q9NPA1 KCMB3_HUMAN potassium large conductance calcium-activated channel, subfamily M beta member 3 NA NA action potential (GO:0001508)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|neuronal action potential (GO:0019228)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076) calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459) NS(1)|large_intestine(1)|lung(2)|stomach(1) 5 all_cancers(143;5.6e-17)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;2.41e-27)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.03) Miconazole(DB01110)|Procaine(DB00721) CTGCCGCCTATATTCAGCCAG 0.408 NA G||| 3176 0.634185 0.4319 0.6945 5008 , , NA 19660 0.8889 NA 0.5785 False NA ,,, NA NA NA 2504 0.6595 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF139471 CCDS3225.1, CCDS3226.1, CCDS43172.1, CCDS43173.1, CCDS54683.1 3q26.3-q27 2010-09-30 ENSG00000171121 ENSG00000171121 27094 Potassium channels 6287 protein-coding gene gene with protein product 605222 KCNMB2, KCNMBL NA 10585773 Standard NM_001163677 NA Approved uc003fjm.3 Q9NPA1 OTTHUMG00000157337 ENST00000349697.2:c.62+5832A>C chr3.hg19:g.178978604T>G NA B7Z9C9|D3DNR2|E9PER5|Q9NPG7|Q9NRM9|Q9UHN3 hg19 CCDS3225.1 0.02 4.546764 CTAxATT COVERED NOVEL KCNMB3-007 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000358530.1 2 9.928593 KEEP 0 0 0 33 1034 TT 0.999998 0.999985 0 - 7 60 264 0 0 18.547987 99 60 3581 160 ENST00000349697.2 0.066038 0.999987 KCNMB3 27094 __UNKNOWN__ __UNKNOWN__ 3 178978689 178978689 __UNKNOWN__ Intron SNP A A G rs62410373 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:178978689A>G ENST00000349697.2 - 1 323 KCNMB3_ENST00000497599.1_Intron NM_171828.1 NP_741979.1 Q9NPA1 KCMB3_HUMAN potassium large conductance calcium-activated channel, subfamily M beta member 3 NA NA action potential (GO:0001508)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|neuronal action potential (GO:0019228)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076) calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459) NS(1)|large_intestine(1)|lung(2)|stomach(1) 5 all_cancers(143;5.6e-17)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;2.41e-27)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.03) Miconazole(DB01110)|Procaine(DB00721) TCATTGTCTAACTGAGCATTG 0.428 NA G||| 2781 0.555312 0.2262 0.6297 5008 , , NA 19470 0.8889 NA 0.5119 False NA ,,, NA NA NA 2504 0.6483 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF139471 CCDS3225.1, CCDS3226.1, CCDS43172.1, CCDS43173.1, CCDS54683.1 3q26.3-q27 2010-09-30 ENSG00000171121 ENSG00000171121 27094 Potassium channels 6287 protein-coding gene gene with protein product 605222 KCNMB2, KCNMBL NA 10585773 Standard NM_001163677 NA Approved uc003fjm.3 Q9NPA1 OTTHUMG00000157337 ENST00000349697.2:c.62+5747T>C chr3.hg19:g.178978689A>G NA B7Z9C9|D3DNR2|E9PER5|Q9NPG7|Q9NRM9|Q9UHN3 hg19 CCDS3225.1 0.02 2.173491 CTAxCTG COVERED NOVEL KCNMB3-007 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000358530.1 0 5.415181 KEEP 0 0 0 18 552 AA 0.999859 0.997023 0 - 4 60 154 0 0 10.651122 66 60 2360 105 ENST00000349697.2 0.057143 0.997163 KCNMB3 27094 __UNKNOWN__ __UNKNOWN__ 3 178978718 178978718 __UNKNOWN__ Intron SNP C C T rs62410374 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:178978718C>T ENST00000349697.2 - 1 323 KCNMB3_ENST00000497599.1_Intron NM_171828.1 NP_741979.1 Q9NPA1 KCMB3_HUMAN potassium large conductance calcium-activated channel, subfamily M beta member 3 NA NA action potential (GO:0001508)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|neuronal action potential (GO:0019228)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076) calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459) NS(1)|large_intestine(1)|lung(2)|stomach(1) 5 all_cancers(143;5.6e-17)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;2.41e-27)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.03) Miconazole(DB01110)|Procaine(DB00721) AGCCTTCTTACATTTCTCTTC 0.433 NA T||| 2781 0.555312 0.2262 0.6297 5008 , , NA 18259 0.8889 NA 0.5119 False NA ,,, NA NA NA 2504 0.6483 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF139471 CCDS3225.1, CCDS3226.1, CCDS43172.1, CCDS43173.1, CCDS54683.1 3q26.3-q27 2010-09-30 ENSG00000171121 ENSG00000171121 27094 Potassium channels 6287 protein-coding gene gene with protein product 605222 KCNMB2, KCNMBL NA 10585773 Standard NM_001163677 NA Approved uc003fjm.3 Q9NPA1 OTTHUMG00000157337 ENST00000349697.2:c.62+5718G>A chr3.hg19:g.178978718C>T NA B7Z9C9|D3DNR2|E9PER5|Q9NPG7|Q9NRM9|Q9UHN3 hg19 CCDS3225.1 0.02 2.217367 TTAxATT COVERED NOVEL KCNMB3-007 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000358530.1 0 4.514551 KEEP 0 0 0 15 526 CC 0.99649 0.990215 0 - 5 60 166 0 0 11.351997 60 60 2288 85 ENST00000349697.2 0.076923 0.993703 MFN1 55669 __UNKNOWN__ __UNKNOWN__ 3 179112183 179112183 __UNKNOWN__ 3'UTR SNP T T A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:179112183T>A ENST00000471841.1 + 0 4688 NM_033540.2 NP_284941 Q8IWA4 MFN1_HUMAN mitofusin 1 NA NA mitochondrial fusion (GO:0008053) integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741) GTP binding (GO:0005525)|GTPase activity (GO:0003924) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1) 31 all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923) AACAGTAAAATAACGAAAGCC 0.388 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF054986 CCDS3228.1 3q26.32 2006-12-13 ENSG00000171109 ENSG00000171109 55669 18262 protein-coding gene gene with protein product 608506 NA 8358434, 11181170 Standard NM_017927 NM_033540 NA Approved FLJ20693 uc003fjs.3 Q8IWA4 OTTHUMG00000157385 ENST00000471841.1:c.*2336T>A chr3.hg19:g.179112183T>A NA B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2 hg19 CCDS3228.1 0.02 0.769815 AAAxAAC COVERED NOVEL MFN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000348654.2 3 2.972819 KEEP 0 0 0 10 268 TT 0.992708 0.990621 0 + 14 60 214 1 0 12.878967 58 60 1899 102 ENST00000471841.1 0.194444 0.997898 GNB4 59345 __UNKNOWN__ __UNKNOWN__ 3 179118998 179118998 __UNKNOWN__ 3'UTR SNP C C T rs3774225 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:179118998C>T ENST00000232564.3 - 0 1312 GNB4_ENST00000468623.1_3'UTR NM_021629.3 NP_067642.1 Q9HAV0 GBB4_HUMAN guanine nucleotide binding protein (G protein), beta polypeptide 4 NA NA cell death (GO:0008219)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762) extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886) protein complex binding (GO:0032403)|signal transducer activity (GO:0004871) endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 16 all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237) ATGTATGACACTGTTAATTCC 0.398 NA C||| 951 0.189896 0.1301 0.2277 5008 , , NA 15484 0.2292 NA 0.1779 False NA ,,, NA NA NA 2504 0.2157 NA NA NA Melanoma(105;1405 1491 7265 20440 33721) NA 0 C 562,3844 251.8+/-258.4 30,502,1671 61 56 58 0.4 0 3 dbSNP_107 58 1477,7123 279.4+/-293.9 136,1205,2959 no utr-3 GNB4 NM_021629.3 166,1707,4630 TT,TC,CC 17.1744,12.7553,15.6774 179118998 2039,10967 2203 4300 6503 SO:0001624 3_prime_UTR_variant AF300648 CCDS3230.1 3q27.1 2013-01-10 ENSG00000114450 ENSG00000114450 59345 WD repeat domain containing 20731 protein-coding gene gene with protein product 610863 NA 10644457, 11842130 Standard NM_021629 NM_021629 NA Approved uc003fjv.4 Q9HAV0 OTTHUMG00000157440 ENST00000232564.3:c.*3G>A chr3.hg19:g.179118998C>T NA B3KMH5|D3DNR8 hg19 CCDS3230.1 0.02 34.227292 ACAxTGT COVERED NOVEL GNB4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000258218.1 5 27.389416 KEEP 0 0 0 91 3269 CC 1 1 0 - 54 60 2005 0 0 142.028959 695 60 26373 1018 ENST00000232564.3 0.072096 1 NDUFB5 4711 __UNKNOWN__ __UNKNOWN__ 3 179332845 179332845 __UNKNOWN__ Silent SNP T T C rs564457330 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:179332845T>C ENST00000259037.3 + 2 325 c.211T>C c.(211-213)Ttg>Ctg p.L71L NDUFB5_ENST00000493866.1_Intron|NDUFB5_ENST00000472629.1_Intron|NDUFB5_ENST00000473500.1_Intron NM_002492.3 NP_002483.1 O43674 NDUB5_HUMAN NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa 71 NA cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281) integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634) NADH dehydrogenase (ubiquinone) activity (GO:0008137) endometrium(1)|lung(6)|skin(1) 8 all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18) TTTGAAGTTATTGGTAAGTTT 0.318 NA T||| 1 0.000199681 0.0 0.0 5008 , , NA 15833 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 81 80 80 NA NA 3 NA 179332845 2203 4300 6503 SO:0001819 synonymous_variant AF047181 CCDS3234.1, CCDS56297.1, CCDS75054.1 3q27.1 2011-07-04 2002-08-29 ENSG00000136521 ENSG00000136521 4711 Mitochondrial respiratory chain complex / Complex I 7700 protein-coding gene gene with protein product complex I SGDH subunit 603841 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5 (16kD, SGDH) NA 9425316 Standard NM_002492 NM_002492 NA Approved SGDH, CI-SGDH, MGC12314 uc003fkc.3 O43674 OTTHUMG00000157480 ENST00000259037.3:c.211T>C chr3.hg19:g.179332845T>C NA Q561V6 hg19 CCDS3234.1 0.02 7.329417 TTAxTGG COVERED NOVEL NDUFB5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000348937.2 0 12.037202 KEEP 0 0 0 40 1292 TT 1 1 0 + 12 60 456 0 0 33.099587 140 60 5163 254 ENST00000259037.3 0.078947 1 USP13 8975 __UNKNOWN__ __UNKNOWN__ 3 179399570 179399570 __UNKNOWN__ Intron SNP C C T rs13080037 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:179399570C>T ENST00000263966.3 + 2 639 USP13_ENST00000482333.1_Intron|USP13_ENST00000496897.1_Intron NM_003940.2 NP_003931.2 Q92995 UBP13_HUMAN ubiquitin specific peptidase 13 (isopeptidase T-3) NA NA autophagy (GO:0006914)|cell proliferation (GO:0008283)|melanocyte differentiation (GO:0030318)|protein K63-linked deubiquitination (GO:0070536)|protein stabilization (GO:0050821)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511) cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270) central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 46 all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148) OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169) TGCCAGGCCTCGTCTTCAGCG 0.507 NA T||| 2498 0.498802 0.2988 0.621 5008 , , NA 19588 0.6567 NA 0.5517 False NA ,,, NA NA NA 2504 0.4652 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U75362 CCDS3235.1 3q26.2-q26.3 2008-04-11 2005-08-08 ENSG00000058056 ENSG00000058056 8975 Ubiquitin-specific peptidases 12611 protein-coding gene gene with protein product 603591 ubiquitin specific protease 13 (isopeptidase T-3) NA 12838346 Standard NM_003940 NA Approved IsoT-3 uc003fkh.3 Q92995 OTTHUMG00000157783 ENST00000263966.3:c.169-96C>T chr3.hg19:g.179399570C>T NA A8K2S3|B4DYF3|D3DNS2|Q96B25 hg19 CCDS3235.1 0.02 28.608895 CCTxGTC COVERED NOVEL USP13-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000349617.1 6 33.340928 KEEP 0 1 29 121 4152 CC 1 1 0 + 24 60 882 0 0 54.817482 641 60 23785 964 ENST00000263966.3 0.03609 1 USP13 8975 __UNKNOWN__ __UNKNOWN__ 3 179448383 179448383 __UNKNOWN__ Intron SNP C C T rs3213761 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:179448383C>T ENST00000263966.3 + 10 1631 USP13_ENST00000482333.1_Intron|USP13_ENST00000496897.1_Intron NM_003940.2 NP_003931.2 Q92995 UBP13_HUMAN ubiquitin specific peptidase 13 (isopeptidase T-3) NA NA autophagy (GO:0006914)|cell proliferation (GO:0008283)|melanocyte differentiation (GO:0030318)|protein K63-linked deubiquitination (GO:0070536)|protein stabilization (GO:0050821)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511) cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270) central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 46 all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148) OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169) CTTTTTGTTTCTGTTTCTCTG 0.388 NA T||| 3454 0.689696 0.6369 0.7968 5008 , , NA 19596 0.7629 NA 0.6809 False NA ,,, NA NA NA 2504 0.6186 NA NA NA NA 0 T 2857,1549 474.8+/-357.1 904,1049,250 32 31 32 2.5 0 3 dbSNP_106 32 6220,2380 387.9+/-342.4 2232,1756,312 no intron USP13 NM_003940.2 3136,2805,562 TT,TC,CC 27.6744,35.1566,30.2091 179448383 9077,3929 2203 4300 6503 SO:0001627 intron_variant U75362 CCDS3235.1 3q26.2-q26.3 2008-04-11 2005-08-08 ENSG00000058056 ENSG00000058056 8975 Ubiquitin-specific peptidases 12611 protein-coding gene gene with protein product 603591 ubiquitin specific protease 13 (isopeptidase T-3) NA 12838346 Standard NM_003940 NA Approved IsoT-3 uc003fkh.3 Q92995 OTTHUMG00000157783 ENST00000263966.3:c.1161-21C>T chr3.hg19:g.179448383C>T NA A8K2S3|B4DYF3|D3DNS2|Q96B25 hg19 CCDS3235.1 0.02 8.581106 TTTxTGT COVERED NOVEL USP13-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000349617.1 0 12.940969 KEEP 0 0 0 43 1503 CC 1 1 0 + 18 60 654 0 0 46.365752 218 60 8238 331 ENST00000263966.3 0.076271 1 USP13 8975 __UNKNOWN__ __UNKNOWN__ 3 179469995 179469995 __UNKNOWN__ Intron SNP A A G rs2239639 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:179469995A>G ENST00000263966.3 + 14 2180 USP13_ENST00000482333.1_Intron|USP13_ENST00000496897.1_Intron NM_003940.2 NP_003931.2 Q92995 UBP13_HUMAN ubiquitin specific peptidase 13 (isopeptidase T-3) NA NA autophagy (GO:0006914)|cell proliferation (GO:0008283)|melanocyte differentiation (GO:0030318)|protein K63-linked deubiquitination (GO:0070536)|protein stabilization (GO:0050821)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511) cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270) central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 46 all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148) OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169) TGCCTCAGACAAAGTTGATAT 0.433 NA A||| 1315 0.26258 0.0204 0.2983 5008 , , NA 20901 0.4365 NA 0.331 False NA ,,, NA NA NA 2504 0.3149 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U75362 CCDS3235.1 3q26.2-q26.3 2008-04-11 2005-08-08 ENSG00000058056 ENSG00000058056 8975 Ubiquitin-specific peptidases 12611 protein-coding gene gene with protein product 603591 ubiquitin specific protease 13 (isopeptidase T-3) NA 12838346 Standard NM_003940 NA Approved IsoT-3 uc003fkh.3 Q92995 OTTHUMG00000157783 ENST00000263966.3:c.1710-78A>G chr3.hg19:g.179469995A>G NA A8K2S3|B4DYF3|D3DNS2|Q96B25 hg19 CCDS3235.1 0.02 3.277181 GACxAAG COVERED NOVEL USP13-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000349617.1 0 2.406713 KEEP 0 0 0 8 244 AA 0.99257 0.99257 0 + 13 60 362 0 0 24.65416 113 60 4076 137 ENST00000263966.3 0.103175 1 USP13 8975 __UNKNOWN__ __UNKNOWN__ 3 179472674 179472674 __UNKNOWN__ Intron SNP C C T rs2287240 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:179472674C>T ENST00000263966.3 + 15 2392 USP13_ENST00000482333.1_Intron|USP13_ENST00000496897.1_Intron NM_003940.2 NP_003931.2 Q92995 UBP13_HUMAN ubiquitin specific peptidase 13 (isopeptidase T-3) NA NA autophagy (GO:0006914)|cell proliferation (GO:0008283)|melanocyte differentiation (GO:0030318)|protein K63-linked deubiquitination (GO:0070536)|protein stabilization (GO:0050821)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511) cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270) central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 46 all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148) OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169) ATATGCGCTACCCTCCCACCC 0.517 NA C||| 2234 0.446086 0.1846 0.4568 5008 , , NA 18661 0.6399 NA 0.496 False NA ,,, NA NA NA 2504 0.5409 NA NA NA NA 0 C 1073,3333 390.5+/-327.7 139,795,1269 80 73 75 -1.3 0 3 dbSNP_100 75 4455,4145 588.9+/-392.4 1168,2119,1013 no intron USP13 NM_003940.2 1307,2914,2282 TT,TC,CC 48.1977,24.3532,42.5035 179472674 5528,7478 2203 4300 6503 SO:0001627 intron_variant U75362 CCDS3235.1 3q26.2-q26.3 2008-04-11 2005-08-08 ENSG00000058056 ENSG00000058056 8975 Ubiquitin-specific peptidases 12611 protein-coding gene gene with protein product 603591 ubiquitin specific protease 13 (isopeptidase T-3) NA 12838346 Standard NM_003940 NA Approved IsoT-3 uc003fkh.3 Q92995 OTTHUMG00000157783 ENST00000263966.3:c.1921+32C>T chr3.hg19:g.179472674C>T NA A8K2S3|B4DYF3|D3DNS2|Q96B25 hg19 CCDS3235.1 0.02 9.01617 CTAxCCT COVERED NOVEL USP13-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000349617.1 1 5.152719 KEEP 0 1 34 29 1045 CC 0.999997 0.999997 0 + 22 60 799 0 0 58.814248 210 60 7708 316 ENST00000263966.3 0.094828 1 TTC14 151613 __UNKNOWN__ __UNKNOWN__ 3 180328749 180328749 __UNKNOWN__ 3'UTR SNP G G A rs3810763 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:180328749G>A ENST00000296015.4 + 0 2864 TTC14_ENST00000382584.4_Intron|TTC14_ENST00000412756.2_3'UTR NM_133462.3 NP_597719.1 Q96N46 TTC14_HUMAN tetratricopeptide repeat domain 14 NA NA RNA binding (GO:0003723) endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1) 45 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) ATTAAAAATCGTCAGCTTTTG 0.224 NA G||| 256 0.0511182 0.18 0.013 5008 , , NA 14126 0.0079 NA 0.001 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB075860 CCDS3237.1, CCDS46963.1, CCDS75055.1 3q27.2 2013-01-10 ENSG00000163728 ENSG00000163728 151613 Tetratricopeptide (TTC) repeat domain containing 24697 protein-coding gene gene with protein product NA 11853319 Standard NM_133462 NM_001042601 NA Approved FLJ00166, KIAA1980 uc003fkk.3 Q96N46 OTTHUMG00000157859 ENST00000296015.4:c.*419G>A chr3.hg19:g.180328749G>A NA G5E9X0|Q6UWJ7|Q8TF22 hg19 CCDS3237.1 0.02 2.04187 ATCxTCA COVERED NOVEL TTC14-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000349786.1 0 9.329639 KEEP 0 0 0 31 1075 GG 0.999997 0.999619 0 + 6 60 216 0 0 15.046474 79 60 2914 129 ENST00000296015.4 0.070588 0.999622 CCDC39 339829 __UNKNOWN__ __UNKNOWN__ 3 180334458 180334458 __UNKNOWN__ Missense_Mutation SNP C C T rs61733583 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:180334458C>T ENST00000442201.2 - 18 2551 c.2432G>A c.(2431-2433)cGt>cAt p.R811H TTC14_ENST00000382584.4_Intron|CCDC39_ENST00000273654.4_3'UTR NM_181426.1 NP_852091.1 Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 811 NA R -> H (in Ref. 1; BAG65133). {ECO:0000305}. axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324) axoneme (GO:0005930)|cytoskeleton (GO:0005856) NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2) 45 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) TTTCAAAAGACGGATTTCCTT 0.299 NA C||| 63 0.0125799 0.003 0.0101 5008 , , NA 17175 0.0417 NA 0.003 False NA ,,, NA NA NA 2504 0.0072 NA NA NA NA 0 C HIS/ARG 6,3646 0,6,1820 71 63 66 2432 5.1 0.9 3 dbSNP_129 66 33,8117 0,33,4042 yes missense CCDC39 NM_181426.1 29 0,39,5862 TT,TC,CC 0.4049,0.1643,0.3305 probably-damaging 811/942 180334458 39,11763 1826 4075 5901 SO:0001583 missense BC047103 CCDS46964.1 3q26.33 2012-07-27 ENSG00000145075 ENSG00000145075 339829 25244 protein-coding gene gene with protein product 613798 NA 21131972 Standard XM_291028 NM_181426 NA Approved DKFZp434A128, CILD14, FAP59 uc010hxe.3 Q9UFE4 OTTHUMG00000157857 ENST00000442201.2:c.2432G>A chr3.hg19:g.180334458C>T ENSP00000405708:p.Arg811His NA B4E2H1 hg19 CCDS46964.1 0.02 6.619272 AGAxGGA COVERED 30 0.013736263736263736 0 0.0 4 0.011049723756906077 24 0.04195804195804196 2 0.002638522427440633 C 20.7 4.031703 0.75504 0.001643 0.004049 ENSG00000145075 ENST00000442201 T 0.79247 -1.25 5.14 5.14 0.70334 . . . . . T 0.54615 0.1869 M 0.83483 2.645 0.80722 D 1 D 0.63046 0.992 P 0.47941 0.562 T 0.74064 -0.3785 8 . . . . 10.4357 0.44435 0.0:0.7886:0.1367:0.0747 . 811 Q9UFE4 CCD39_HUMAN H 811 ENSP00000405708:R811H . R - 2 0 CCDC39 181817152 1.000000 0.71417 0.908000 0.35775 0.972000 0.66771 3.227000 0.51262 2.671000 0.90904 0.460000 0.39030 CGT NOVEL CCDC39-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000349783.3 2 11.135852 KEEP 0 0 0 37 1271 CC 1 1 0 - 8 60 293 0 0 18.989623 168 60 6005 258 ENST00000442201.2 0.045455 1 CCDC39 339829 __UNKNOWN__ __UNKNOWN__ 3 180372455 180372455 __UNKNOWN__ Intron SNP T T C rs1401334 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:180372455T>C ENST00000442201.2 - 7 1050 CCDC39_ENST00000273654.4_Intron NM_181426.1 NP_852091.1 Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 NA NA axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324) axoneme (GO:0005930)|cytoskeleton (GO:0005856) NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2) 45 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) aaaCTAGAAGTAGTTTCTTTA 0.299 NA C||| 1721 0.34365 0.5681 0.2911 5008 , , NA 12288 0.3591 NA 0.1899 False NA ,,, NA NA NA 2504 0.2198 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC047103 CCDS46964.1 3q26.33 2012-07-27 ENSG00000145075 ENSG00000145075 339829 25244 protein-coding gene gene with protein product 613798 NA 21131972 Standard XM_291028 NM_181426 NA Approved DKFZp434A128, CILD14, FAP59 uc010hxe.3 Q9UFE4 OTTHUMG00000157857 ENST00000442201.2:c.930+94A>G chr3.hg19:g.180372455T>C NA B4E2H1 hg19 CCDS46964.1 0.02 4.081069 AAGxAGT COVERED NOVEL CCDC39-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000349783.3 1 5.402524 KEEP 0 0 0 18 426 TT 0.99986 0.999859 0 - 6 60 201 0 0 12.521102 119 70 3410 191 ENST00000442201.2 0.048 1 CCDC39 339829 __UNKNOWN__ __UNKNOWN__ 3 180490916 180490916 __UNKNOWN__ Intron SNP G G A rs4521229 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:180490916G>A ENST00000485055.1 - 4 452 Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 NA NA axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324) axoneme (GO:0005930)|cytoskeleton (GO:0005856) NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2) 45 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) CTGAACAAATGGCACATACAT 0.398 NA G||| 1683 0.336062 0.4153 0.2579 5008 , , NA 21058 0.4196 NA 0.1879 False NA ,,, NA NA NA 2504 0.3507 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC047103 CCDS46964.1 3q26.33 2012-07-27 ENSG00000145075 ENSG00000145075 339829 25244 protein-coding gene gene with protein product 613798 NA 21131972 Standard XM_291028 NM_181426 NA Approved DKFZp434A128, CILD14, FAP59 uc010hxe.3 Q9UFE4 OTTHUMG00000157857 ENST00000485055.1:c.2422+8855C>T chr3.hg19:g.180490916G>A NA B4E2H1 hg19 0.02 1.786408 AATxGCA COVERED NOVEL CCDC39-004 KNOWN basic processed_transcript NA protein_coding OTTHUMT00000349890.1 0 3.310658 KEEP 0 0 0 11 375 GG 0.993072 0.992296 0 - 4 60 140 0 0 9.014765 76 60 2745 96 ENST00000485055.1 0.05 0.999218 FXR1 8087 __UNKNOWN__ __UNKNOWN__ 3 180630191 180630191 __UNKNOWN__ 5'UTR SNP A A G rs34455584 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:180630191A>G ENST00000357559.4 + 0 102 NM_001013438.2|NM_005087.3 NP_001013456.1|NP_005078.2 P51114 FXR1_HUMAN fragile X mental retardation, autosomal homolog 1 NA NA apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of translation (GO:0017148) costamere (GO:0043034)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysome (GO:0005844) G-quadruplex RNA binding (GO:0002151)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723) breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2) 26 all_cancers(143;6.07e-14)|Ovarian(172;0.0212) Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22) TGTGGGGCGGAGACCTAGGGG 0.677 NA OREG0015934 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) G||| 1204 0.240415 0.3268 0.1859 5008 , , NA 11396 0.1637 NA 0.2187 False NA ,,, NA NA NA 2504 0.2638 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant M67468 CCDS3238.1, CCDS33894.1, CCDS46965.1 3q28 2014-01-28 ENSG00000114416 ENSG00000114416 8087 4023 protein-coding gene gene with protein product 600819 NA 7781595, 9642279 Standard NM_005087 NA Approved uc003fkq.3 P51114 OTTHUMG00000158138 ENST00000357559.4:c.-283A>G chr3.hg19:g.180630191A>G 1963 A8K9B8|Q7Z450|Q8N6R8 hg19 CCDS3238.1 0.02 4.998427 CGGxGAC COVERED NOVEL FXR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000350265.5 0 20.895197 KEEP 0 1 39 83 2549 AA 1 0.999999 0 + 7 60 260 0 0 17.714978 115 60 4016 290 ENST00000357559.4 0.057377 0.999999 FXR1 8087 __UNKNOWN__ __UNKNOWN__ 3 180630565 180630565 __UNKNOWN__ Intron SNP T T C rs1805579 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:180630565T>C ENST00000357559.4 + 1 435 FXR1_ENST00000445140.2_Intron|FXR1_ENST00000468861.1_Intron|FXR1_ENST00000305586.7_Intron|FXR1_ENST00000491674.1_Intron|FXR1_ENST00000491062.1_Intron NM_001013438.2|NM_005087.3 NP_001013456.1|NP_005078.2 P51114 FXR1_HUMAN fragile X mental retardation, autosomal homolog 1 NA NA apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of translation (GO:0017148) costamere (GO:0043034)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysome (GO:0005844) G-quadruplex RNA binding (GO:0002151)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723) breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2) 26 all_cancers(143;6.07e-14)|Ovarian(172;0.0212) Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22) TTCTGGGTGCTGGAGCGCGTT 0.592 NA OREG0015934 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) T||| 831 0.165935 0.0719 0.1527 5008 , , NA 12719 0.1627 NA 0.2068 False NA ,,, NA NA NA 2504 0.2638 NA NA NA NA 0 T ,, 414,3992 203.1+/-225.7 21,372,1810 97 92 94 ,, -1.9 0 3 dbSNP_92 94 1905,6695 338.6+/-322.8 207,1491,2602 no intron,intron,intron FXR1 NM_001013438.2,NM_001013439.2,NM_005087.3 ,, 228,1863,4412 CC,CT,TT 22.1512,9.3963,17.8302 ,, ,, 180630565 2319,10687 2203 4300 6503 SO:0001627 intron_variant M67468 CCDS3238.1, CCDS33894.1, CCDS46965.1 3q28 2014-01-28 ENSG00000114416 ENSG00000114416 8087 4023 protein-coding gene gene with protein product 600819 NA 7781595, 9642279 Standard NM_005087 NA Approved uc003fkq.3 P51114 OTTHUMG00000158138 ENST00000357559.4:c.51+41T>C chr3.hg19:g.180630565T>C 1963 A8K9B8|Q7Z450|Q8N6R8 hg19 CCDS3238.1 0.02 17.085517 TGCxGGA COVERED NOVEL FXR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000350265.5 1 53.560278 KEEP 0 0 0 178 5584 TT 1 1 0 + 22 60 760 0 0 48.949724 402 60 14852 776 ENST00000357559.4 0.051887 1 FXR1 8087 __UNKNOWN__ __UNKNOWN__ 3 180633485 180633485 __UNKNOWN__ Intron SNP G G A rs1805564 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:180633485G>A ENST00000357559.4 + 1 435 FXR1_ENST00000445140.2_Intron|FXR1_ENST00000480918.1_Intron|FXR1_ENST00000468861.1_Intron|FXR1_ENST00000305586.7_Intron|FXR1_ENST00000491674.1_Intron|FXR1_ENST00000491062.1_Intron NM_001013438.2|NM_005087.3 NP_001013456.1|NP_005078.2 P51114 FXR1_HUMAN fragile X mental retardation, autosomal homolog 1 NA NA apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of translation (GO:0017148) costamere (GO:0043034)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysome (GO:0005844) G-quadruplex RNA binding (GO:0002151)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723) breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2) 26 all_cancers(143;6.07e-14)|Ovarian(172;0.0212) Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22) ACATTTGGCCGTAAGTGTGAA 0.388 NA G||| 831 0.165935 0.0719 0.1527 5008 , , NA 18291 0.1627 NA 0.2068 False NA ,,, NA NA NA 2504 0.2638 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M67468 CCDS3238.1, CCDS33894.1, CCDS46965.1 3q28 2014-01-28 ENSG00000114416 ENSG00000114416 8087 4023 protein-coding gene gene with protein product 600819 NA 7781595, 9642279 Standard NM_005087 NA Approved uc003fkq.3 P51114 OTTHUMG00000158138 ENST00000357559.4:c.51+2961G>A chr3.hg19:g.180633485G>A NA A8K9B8|Q7Z450|Q8N6R8 hg19 CCDS3238.1 0.02 19.26625 GCCxTAA COVERED NOVEL FXR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000350265.5 2 25.281815 KEEP 0 0 0 84 2928 GG 1 1 0 + 17 60 604 0 0 36.436091 476 70 17391 704 ENST00000357559.4 0.034483 1 ATP11B 23200 __UNKNOWN__ __UNKNOWN__ 3 182638524 182638524 __UNKNOWN__ 3'UTR SNP G G C rs35606397 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:182638524G>C ENST00000323116.5 + 0 6426 NM_014616.2 NP_055431.1 Q9Y2G3 AT11B_HUMAN ATPase, class VI, type 11B NA NA aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085) endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037) ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012) breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 41 all_cancers(143;9.04e-15)|Ovarian(172;0.0355) all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20) TTCAGCAGGCGTAGGCTCACC 0.522 NA g||| 780 0.155751 0.0756 0.2233 5008 , , NA 18818 0.2312 NA 0.167 False NA ,,, NA NA NA 2504 0.1268 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF156548 CCDS33896.1 3q27 2010-04-20 2007-09-19 ENSG00000058063 ENSG00000058063 23200 ATPases / P-type 13553 protein-coding gene gene with protein product 605869 ATPase, Class VI, type 11B NA 10231032, 11015572 Standard NM_014616 NM_014616 NA Approved ATPIF, ATPIR, KIAA0956 uc003flb.3 Q9Y2G3 OTTHUMG00000158295 ENST00000323116.5:c.*2632G>C chr3.hg19:g.182638524G>C NA Q96FN1|Q9UKK7 hg19 CCDS33896.1 0.02 11.438001 GGCxTAG COVERED NOVEL ATP11B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000350598.1 4 15.950914 KEEP 0 0 0 53 1827 GG 1 1 0 + 12 60 443 1 0 28.428093 273 60 9824 421 ENST00000323116.5 0.042105 1 DCUN1D1 54165 __UNKNOWN__ __UNKNOWN__ 3 182657469 182657469 __UNKNOWN__ 3'UTR SNP G G A rs76547689 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:182657469G>A ENST00000292782.4 - 0 6346 NM_020640.2 NP_065691.2 Q96GG9 DCNL1_HUMAN DCN1, defective in cullin neddylation 1, domain containing 1 NA NA ubiquitin ligase complex (GO:0000151) endometrium(2)|large_intestine(4)|lung(8)|ovary(1) 15 all_cancers(143;9.04e-15)|Ovarian(172;0.0355) all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) gtgtggctgcgtggggctgga 0.433 NA G||| 31 0.0061901 0.0045 0.0 5008 , , NA 18258 0.0238 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF292100, AK056335 CCDS3240.1 3q26.3 2013-06-10 2013-06-10 ENSG00000043093 ENSG00000043093 54165 18184 protein-coding gene gene with protein product squamous cell carcinoma related oncogene 605905 DCN1, defective in cullin neddylation 1, domain containing 1 (S. cerevisiae) NA 10777668, 15988528 Standard NM_020640 NM_020640 NA Approved RP42, SCRO, DCUN1L1, Tes3, SCCRO uc003fld.1 Q96GG9 OTTHUMG00000158314 ENST00000292782.4:c.*5413C>T chr3.hg19:g.182657469G>A NA B2RB37|Q7L3G9|Q8TEX7|Q9H6M1|Q9HCT3 hg19 CCDS3240.1 0.02 2.01041 TGCxTGG COVERED NOVEL DCUN1D1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000350658.1 0 6.621153 KEEP 0 0 0 22 750 GG 0.999879 0.999841 0 - 7 60 271 0 0 19.427176 93 60 3044 145 ENST00000292782.4 0.07 0.999962 LAMP3 27074 __UNKNOWN__ __UNKNOWN__ 3 182871464 182871464 __UNKNOWN__ Intron SNP A A G rs500288 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:182871464A>G ENST00000466939.1 - 2 805 LAMP3_ENST00000265598.3_Intron Q9UQV4 LAMP3_HUMAN lysosomal-associated membrane protein 3 NA NA cell proliferation (GO:0008283)|immune system process (GO:0002376) alveolar lamellar body membrane (GO:0097233)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2) 28 all_cancers(143;9.14e-14)|Ovarian(172;0.0355) all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21) TGTGGCCCCAACTTACCGACT 0.438 NA A||| 218 0.0435304 0.0076 0.0634 5008 , , NA 18049 0.0317 NA 0.0676 False NA ,,, NA NA NA 2504 0.0654 NA NA NA NA 0 A 69,4337 62.9+/-100.1 0,69,2134 88 81 83 4.4 1 3 dbSNP_83 83 690,7910 171.7+/-222.6 33,624,3643 no intron LAMP3 NM_014398.3 33,693,5777 GG,GA,AA 8.0233,1.566,5.8358 182871464 759,12247 2203 4300 6503 SO:0001627 intron_variant AB013924 CCDS3242.1 3q26.3-q27 2011-11-24 ENSG00000078081 ENSG00000078081 27074 CD molecules 14582 protein-coding gene gene with protein product 605883 NA 9721848 Standard NM_014398 NA Approved LAMP, TSC403, DC-LAMP, DCLAMP, CD208 uc003flh.4 Q9UQV4 OTTHUMG00000158387 ENST00000466939.1:c.687+5T>C chr3.hg19:g.182871464A>G NA D3DNS4|O94781|Q8NEC8 hg19 0.02 11.003997 CCAxCTT COVERED NOVEL LAMP3-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000350864.1 0 7.521192 KEEP 0 0 0 25 776 AA 0.999931 0.999931 0 - 11 60 381 0 0 23.224898 278 60 9935 396 ENST00000466939.1 0.038062 1 LAMP3 27074 __UNKNOWN__ __UNKNOWN__ 3 182880715 182880715 __UNKNOWN__ Intron SNP C C G rs602646 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:182880715C>G ENST00000486686.1 - 2 219 Q9UQV4 LAMP3_HUMAN lysosomal-associated membrane protein 3 NA NA cell proliferation (GO:0008283)|immune system process (GO:0002376) alveolar lamellar body membrane (GO:0097233)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2) 28 all_cancers(143;9.14e-14)|Ovarian(172;0.0355) all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21) CAGCGCCGGCCTCCTCCGCTC 0.672 NA C||| 1632 0.325879 0.4463 0.3833 5008 , , NA 12143 0.4058 NA 0.2127 False NA ,,, NA NA NA 2504 0.1564 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB013924 CCDS3242.1 3q26.3-q27 2011-11-24 ENSG00000078081 ENSG00000078081 27074 CD molecules 14582 protein-coding gene gene with protein product 605883 NA 9721848 Standard NM_014398 NA Approved LAMP, TSC403, DC-LAMP, DCLAMP, CD208 uc003flh.4 Q9UQV4 OTTHUMG00000158387 ENST00000486686.1:c.251-197G>C chr3.hg19:g.182880715C>G NA D3DNS4|O94781|Q8NEC8 hg19 0.02 1.859979 GGCxTCC COVERED NOVEL LAMP3-004 KNOWN basic processed_transcript NA protein_coding OTTHUMT00000350866.1 6 4.45017 KEEP 0 1 35 27 953 CC 0.999997 0.999484 0 - 10 60 346 0 0 26.114645 73 60 2668 148 ENST00000486686.1 0.120482 0.999487 MCF2L2 23101 __UNKNOWN__ __UNKNOWN__ 3 183017713 183017713 __UNKNOWN__ Intron SNP A A C rs2293202 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:183017713A>C ENST00000328913.3 - 11 1603 MCF2L2_ENST00000447025.2_Intron|MCF2L2_ENST00000414362.2_Intron|MCF2L2_ENST00000473233.1_Intron NM_015078.2 NP_055893 Q86YR7 MF2L2_HUMAN MCF.2 cell line derived transforming sequence-like 2 NA NA Rho guanyl-nucleotide exchange factor activity (GO:0005089) breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) CAATCACACAAGGAAGGGAGG 0.448 NA A||| 533 0.10643 0.2466 0.0231 5008 , , NA 21298 0.1498 NA 0.0159 False NA ,,, NA NA NA 2504 0.0245 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB020668 CCDS3243.1 3q27 2012-07-24 ENSG00000053524 ENSG00000053524 23101 Rho guanine nucleotide exchange factors 30319 protein-coding gene gene with protein product NA Standard NM_015078 NM_015078 NA Approved KIAA0861, ARHGEF22 uc003fli.1 Q86YR7 OTTHUMG00000158388 ENST00000328913.3:c.1305+79T>G chr3.hg19:g.183017713A>C NA O94942|Q6P2B8|Q6ZVJ5|Q8N318 hg19 CCDS3243.1 0.02 1.710687 ACAxGGA COVERED NOVEL MCF2L2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000350868.1 1 3.910676 KEEP 0 0 0 13 398 AA 0.994391 0.994353 0 - 7 60 244 0 0 16.730747 93 60 3323 118 ENST00000328913.3 0.07 0.999962 MCF2L2 23101 __UNKNOWN__ __UNKNOWN__ 3 183056541 183056541 __UNKNOWN__ Intron SNP A A C rs6772530 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:183056541A>C ENST00000328913.3 - 5 784 MCF2L2_ENST00000447025.2_Intron|MCF2L2_ENST00000414362.2_Intron|MCF2L2_ENST00000473233.1_Intron NM_015078.2 NP_055893 Q86YR7 MF2L2_HUMAN MCF.2 cell line derived transforming sequence-like 2 NA NA Rho guanyl-nucleotide exchange factor activity (GO:0005089) breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) atgccatcttagccagaagcc 0.453 NA C||| 1833 0.366014 0.6536 0.2075 5008 , , NA 20188 0.4077 NA 0.1998 False NA ,,, NA NA NA 2504 0.2178 NA NA NA NA 0 C 2437,1969 553.2+/-378.7 665,1107,431 60 53 55 -6.5 0 3 dbSNP_116 55 1626,6974 737.1+/-407.0 167,1292,2841 no intron MCF2L2 NM_015078.2 832,2399,3272 CC,CA,AA 18.907,44.6891,31.2394 183056541 4063,8943 2203 4300 6503 SO:0001627 intron_variant AB020668 CCDS3243.1 3q27 2012-07-24 ENSG00000053524 ENSG00000053524 23101 Rho guanine nucleotide exchange factors 30319 protein-coding gene gene with protein product NA Standard NM_015078 NM_015078 NA Approved KIAA0861, ARHGEF22 uc003fli.1 Q86YR7 OTTHUMG00000158388 ENST00000328913.3:c.486+46T>G chr3.hg19:g.183056541A>C NA O94942|Q6P2B8|Q6ZVJ5|Q8N318 hg19 CCDS3243.1 0.02 15.483317 CTTxGCC COVERED NOVEL MCF2L2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000350868.1 1 13.541401 KEEP 0 0 0 45 1429 AA 1 1 0 - 17 60 611 0 0 39.546227 340 60 12609 501 ENST00000328913.3 0.047619 1 KLHL24 54800 __UNKNOWN__ __UNKNOWN__ 3 183368005 183368005 __UNKNOWN__ Intron SNP G G A rs3755649 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:183368005G>A ENST00000454652.2 + 4 325 KLHL24_ENST00000242810.6_Intron NM_017644.3 NP_060114.2 Q6TFL4 KLH24_HUMAN kelch-like family member 24 NA NA cell projection (GO:0042995)|cytoplasm (GO:0005737) NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 all_cancers(143;2.88e-10)|Ovarian(172;0.0303) all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22) TTGTTGTAGTGTTTATATTAA 0.239 NA G||| 1652 0.329872 0.4395 0.2752 5008 , , NA 18031 0.4355 NA 0.2644 False NA ,,, NA NA NA 2504 0.1789 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS3246.1 3q27.1 2013-02-22 2013-02-22 ENSG00000114796 ENSG00000114796 54800 Kelch-like, BTB/POZ domain containing 25947 protein-coding gene gene with protein product 611295 kelch-like 24 (Drosophila) NA Standard NM_017644 XM_005247552 NA Approved DRE1, FLJ20059 uc003flv.3 Q6TFL4 OTTHUMG00000156911 ENST00000454652.2:c.-61-79G>A chr3.hg19:g.183368005G>A NA A5PLN8|Q9H620|Q9NXT9 hg19 CCDS3246.1 0.02 6.190593 AGTxTTT COVERED NOVEL KLHL24-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000346586.2 9 4.209562 KEEP 0 0 0 14 462 GG 0.995343 0.995343 0 + 11 60 379 0 0 25.517025 157 60 5897 184 ENST00000454652.2 0.065476 1 KLHL24 54800 __UNKNOWN__ __UNKNOWN__ 3 183368216 183368216 __UNKNOWN__ Silent SNP A A T rs3755648 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:183368216A>T ENST00000454652.2 + 4 458 c.72A>T c.(70-72)cgA>cgT p.R24R KLHL24_ENST00000476808.1_Silent_p.R24R|KLHL24_ENST00000242810.6_Silent_p.R24R NM_017644.3 NP_060114.2 Q6TFL4 KLH24_HUMAN kelch-like family member 24 24 NA cell projection (GO:0042995)|cytoplasm (GO:0005737) p.R24R(1) NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 all_cancers(143;2.88e-10)|Ovarian(172;0.0303) all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22) CAACTAAGCGAAAAGTTTTTG 0.403 NA T||| 1755 0.350439 0.5144 0.2795 5008 , , NA 17517 0.4355 NA 0.2654 False NA ,,, NA NA NA 2504 0.1789 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) T 2126,2280 578.7+/-384.7 527,1072,604 63 67 66 72 -3.2 1 3 dbSNP_107 66 2370,6230 697.6+/-405.0 339,1692,2269 no coding-synonymous KLHL24 NM_017644.3 866,2764,2873 TT,TA,AA 27.5581,48.2524,34.5687 24/601 183368216 4496,8510 2203 4300 6503 SO:0001819 synonymous_variant CCDS3246.1 3q27.1 2013-02-22 2013-02-22 ENSG00000114796 ENSG00000114796 54800 Kelch-like, BTB/POZ domain containing 25947 protein-coding gene gene with protein product 611295 kelch-like 24 (Drosophila) NA Standard NM_017644 XM_005247552 NA Approved DRE1, FLJ20059 uc003flv.3 Q6TFL4 OTTHUMG00000156911 ENST00000454652.2:c.72A>T chr3.hg19:g.183368216A>T NA A5PLN8|Q9H620|Q9NXT9 hg19 CCDS3246.1 0.02 35.930024 GCGxAAA COVERED NOVEL KLHL24-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000346586.2 7 46.272845 KEEP 0 1 29 164 5192 AA 1 1 0 + 44 60 1584 0 0 103.691099 830 60 29894 1240 ENST00000454652.2 0.050343 1 KLHL24 54800 __UNKNOWN__ __UNKNOWN__ 3 183368891 183368891 __UNKNOWN__ Silent SNP C C T rs2293031 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:183368891C>T ENST00000454652.2 + 4 1133 c.747C>T c.(745-747)caC>caT p.H249H KLHL24_ENST00000476808.1_Silent_p.H249H|KLHL24_ENST00000242810.6_Silent_p.H249H NM_017644.3 NP_060114.2 Q6TFL4 KLH24_HUMAN kelch-like family member 24 249 BACK. NA cell projection (GO:0042995)|cytoplasm (GO:0005737) NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 all_cancers(143;2.88e-10)|Ovarian(172;0.0303) all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22) CACTGTTACACGAGCTCCTGA 0.443 NA T||| 1769 0.353235 0.5151 0.2867 5008 , , NA 20428 0.4355 NA 0.2714 False NA ,,, NA NA NA 2504 0.181 NA NA NA NA 0 T 2139,2267 597.0+/-388.8 533,1073,597 132 122 125 747 -3.9 0.6 3 dbSNP_100 125 2403,6197 699.6+/-405.1 348,1707,2245 no coding-synonymous KLHL24 NM_017644.3 881,2780,2842 TT,TC,CC 27.9419,48.5474,34.9223 249/601 183368891 4542,8464 2203 4300 6503 SO:0001819 synonymous_variant CCDS3246.1 3q27.1 2013-02-22 2013-02-22 ENSG00000114796 ENSG00000114796 54800 Kelch-like, BTB/POZ domain containing 25947 protein-coding gene gene with protein product 611295 kelch-like 24 (Drosophila) NA Standard NM_017644 XM_005247552 NA Approved DRE1, FLJ20059 uc003flv.3 Q6TFL4 OTTHUMG00000156911 ENST00000454652.2:c.747C>T chr3.hg19:g.183368891C>T NA A5PLN8|Q9H620|Q9NXT9 hg19 CCDS3246.1 0.02 15.56699 ACAxGAG COVERED NOVEL KLHL24-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000346586.2 4 20.76343 KEEP 0 0 0 69 2339 CC 1 1 0 + 14 60 519 0 0 32.908072 345 60 12127 507 ENST00000454652.2 0.038997 1 KLHL24 54800 __UNKNOWN__ __UNKNOWN__ 3 183397507 183397507 __UNKNOWN__ 3'UTR SNP G G A rs9856997 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:183397507G>A ENST00000454652.2 + 0 2622 NM_017644.3 NP_060114.2 Q6TFL4 KLH24_HUMAN kelch-like family member 24 NA NA cell projection (GO:0042995)|cytoplasm (GO:0005737) NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 all_cancers(143;2.88e-10)|Ovarian(172;0.0303) all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22) TAATGCTTAGGATGCATTCTA 0.279 NA A||| 1732 0.345847 0.4962 0.2795 5008 , , NA 18193 0.4365 NA 0.2644 False NA ,,, NA NA NA 2504 0.18 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS3246.1 3q27.1 2013-02-22 2013-02-22 ENSG00000114796 ENSG00000114796 54800 Kelch-like, BTB/POZ domain containing 25947 protein-coding gene gene with protein product 611295 kelch-like 24 (Drosophila) NA Standard NM_017644 XM_005247552 NA Approved DRE1, FLJ20059 uc003flv.3 Q6TFL4 OTTHUMG00000156911 ENST00000454652.2:c.*433G>A chr3.hg19:g.183397507G>A NA A5PLN8|Q9H620|Q9NXT9 hg19 CCDS3246.1 0.02 8.581327 TAGxATG COVERED NOVEL KLHL24-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000346586.2 2 9.630926 KEEP 0 0 0 32 1101 GG 0.999997 0.999997 0 + 12 60 428 0 0 27.93445 224 60 8230 309 ENST00000454652.2 0.050847 1 YEATS2 55689 __UNKNOWN__ __UNKNOWN__ 3 183442219 183442219 __UNKNOWN__ Missense_Mutation SNP A A G rs16858033 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:183442219A>G ENST00000305135.5 + 6 745 c.550A>G c.(550-552)Att>Gtt p.I184V NM_018023.4 NP_060493.3 Q9ULM3 YETS2_HUMAN YEATS domain containing 2 184 NA I -> V (in dbSNP:rs16858033). chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892) Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686) TBP-class protein binding (GO:0017025) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3) 49 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) TACTTCTAGAATTACTGGCTC 0.343 NA G||| 344 0.0686901 0.1097 0.0303 5008 , , NA 16236 0.1399 NA 0.003 False NA ,,, NA NA NA 2504 0.0348 NA NA NA NA 0 G VAL/ILE 446,3202 27,392,1405 84 79 80 550 0.8 0 3 dbSNP_123 80 18,8154 0,18,4068 yes missense YEATS2 NM_018023.4 29 27,410,5473 GG,GA,AA 0.2203,12.2259,3.9255 benign 184/1423 183442219 464,11356 1824 4086 5910 SO:0001583 missense AB033023 CCDS43175.1 3q27.3 2004-08-18 ENSG00000163872 ENSG00000163872 55689 25489 protein-coding gene gene with protein product 613373 NA 10574462 Standard NM_018023 NM_018023 NA Approved FLJ10201, FLJ12841, FLJ13308, KIAA1197 uc003fly.2 Q9ULM3 OTTHUMG00000156898 ENST00000305135.5:c.550A>G chr3.hg19:g.183442219A>G ENSP00000306983:p.Ile184Val NA A7E2B9|D3DNS9|Q641P6|Q9NW96 hg19 CCDS43175.1 0.02 14.274042 AGAxTTA COVERED 140 0.0641025641025641 54 0.10975609756097561 8 0.022099447513812154 77 0.1346153846153846 1 0.0013192612137203166 G 0.497 -0.872667 0.02570 0.122259 0.002203 ENSG00000163872 ENST00000421660;ENST00000305135 T 0.19938 2.11 5.01 0.783 0.18572 . 0.617506 0.14675 N 0.305064 T 0.00073 0.0002 N 0.02142 -0.665 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.41893 -0.9483 9 0.02654 T 1 -0.9147 7.8851 0.29646 0.4447:0.0:0.5553:0.0 rs16858033;rs52816838;rs16858033 184 Q9ULM3 YETS2_HUMAN V 184 ENSP00000306983:I184V ENSP00000306983:I184V I + 1 0 YEATS2 184924913 1.000000 0.71417 0.002000 0.10522 0.083000 0.17756 2.500000 0.45381 -0.087000 0.12528 -0.349000 0.07799 ATT NOVEL YEATS2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000346507.2 2 18.355676 KEEP 0 0 0 61 1969 AA 1 1 0 + 10 60 386 0 0 23.985427 315 60 11529 481 ENST00000305135.5 0.030769 1 YEATS2 55689 __UNKNOWN__ __UNKNOWN__ 3 183472161 183472161 __UNKNOWN__ Intron SNP G G C rs75129248 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:183472161G>C ENST00000305135.5 + 11 1585 NM_018023.4 NP_060493.3 Q9ULM3 YETS2_HUMAN YEATS domain containing 2 NA NA chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892) Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686) TBP-class protein binding (GO:0017025) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3) 49 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) CAGGTATGCAGATGTTTTGAA 0.398 NA G||| 207 0.0413339 0.0129 0.0202 5008 , , NA 22396 0.1399 NA 0.001 False NA ,,, NA NA NA 2504 0.0348 NA NA NA NA 0 G 54,3772 1,52,1860 79 73 75 1.1 0 3 dbSNP_131 75 12,8250 0,12,4119 no intron YEATS2 NM_018023.4 1,64,5979 CC,CG,GG 0.1452,1.4114,0.546 183472161 66,12022 1913 4131 6044 SO:0001627 intron_variant AB033023 CCDS43175.1 3q27.3 2004-08-18 ENSG00000163872 ENSG00000163872 55689 25489 protein-coding gene gene with protein product 613373 NA 10574462 Standard NM_018023 NM_018023 NA Approved FLJ10201, FLJ12841, FLJ13308, KIAA1197 uc003fly.2 Q9ULM3 OTTHUMG00000156898 ENST00000305135.5:c.1390+8G>C chr3.hg19:g.183472161G>C NA A7E2B9|D3DNS9|Q641P6|Q9NW96 hg19 CCDS43175.1 0.02 13.759405 GCAxATG COVERED NOVEL YEATS2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000346507.2 3 9.930687 KEEP 0 0 0 33 1147 GG 0.999998 0.999998 0 + 12 60 446 0 0 28.386474 292 60 11078 385 ENST00000305135.5 0.039474 1 YEATS2 55689 __UNKNOWN__ __UNKNOWN__ 3 183503847 183503847 __UNKNOWN__ Intron SNP G G A rs75098284 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:183503847G>A ENST00000305135.5 + 20 2931 NM_018023.4 NP_060493.3 Q9ULM3 YETS2_HUMAN YEATS domain containing 2 NA NA chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892) Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686) TBP-class protein binding (GO:0017025) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3) 49 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) TCAGCTGTCAGTAAGGAATGA 0.423 NA g||| 225 0.0449281 0.0287 0.0202 5008 , , NA 20304 0.1379 NA 0.001 False NA ,,, NA NA NA 2504 0.0337 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB033023 CCDS43175.1 3q27.3 2004-08-18 ENSG00000163872 ENSG00000163872 55689 25489 protein-coding gene gene with protein product 613373 NA 10574462 Standard NM_018023 NM_018023 NA Approved FLJ10201, FLJ12841, FLJ13308, KIAA1197 uc003fly.2 Q9ULM3 OTTHUMG00000156898 ENST00000305135.5:c.2737-66G>A chr3.hg19:g.183503847G>A NA A7E2B9|D3DNS9|Q641P6|Q9NW96 hg19 CCDS43175.1 0.02 7.197223 TCAxTAA COVERED NOVEL YEATS2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000346507.2 0 7.524619 KEEP 0 0 0 25 913 GG 0.999931 0.999931 0 + 8 60 310 0 0 20.873244 159 60 6169 217 ENST00000305135.5 0.047904 1 YEATS2 55689 __UNKNOWN__ __UNKNOWN__ 3 183508590 183508590 __UNKNOWN__ Silent SNP A A G rs79808533 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:183508590A>G ENST00000305135.5 + 21 3114 c.2919A>G c.(2917-2919)gaA>gaG p.E973E NM_018023.4 NP_060493.3 Q9ULM3 YETS2_HUMAN YEATS domain containing 2 973 NA chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892) Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686) TBP-class protein binding (GO:0017025) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3) 49 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) AGCAGTCTGAAGGAATGGCTC 0.537 NA G||| 232 0.0463259 0.034 0.0202 5008 , , NA 17557 0.1379 NA 0.001 False NA ,,, NA NA NA 2504 0.0337 NA NA NA NA 0 G 114,3978 2,110,1934 88 93 91 2919 3.3 1 3 dbSNP_131 91 18,8386 0,18,4184 yes coding-synonymous YEATS2 NM_018023.4 2,128,6118 GG,GA,AA 0.2142,2.7859,1.0563 973/1423 183508590 132,12364 2046 4202 6248 SO:0001819 synonymous_variant AB033023 CCDS43175.1 3q27.3 2004-08-18 ENSG00000163872 ENSG00000163872 55689 25489 protein-coding gene gene with protein product 613373 NA 10574462 Standard NM_018023 NM_018023 NA Approved FLJ10201, FLJ12841, FLJ13308, KIAA1197 uc003fly.2 Q9ULM3 OTTHUMG00000156898 ENST00000305135.5:c.2919A>G chr3.hg19:g.183508590A>G NA A7E2B9|D3DNS9|Q641P6|Q9NW96 hg19 CCDS43175.1 0.02 7.094706 TGAxGGA COVERED 103 0.04716117216117216 22 0.044715447154471545 5 0.013812154696132596 75 0.13111888111888112 1 0.0013192612137203166 G 0.866 -0.733673 0.03111 0.027859 0.002142 ENSG00000163872 ENST00000432781 . . . 5.67 3.33 0.38152 . . . . . T 0.00784 0.0026 . . . 0.80722 D 1 . . . . . . T 0.00433 -1.1742 4 . . . -25.3787 5.2162 0.15344 0.6447:0.0:0.2288:0.1265 . . . . G 159 . . R + 1 2 YEATS2 184991284 0.998000 0.40836 0.990000 0.47175 0.058000 0.15608 0.367000 0.20382 0.116000 0.18110 -1.110000 0.02074 AGG NOVEL YEATS2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000346507.2 1 15.043152 KEEP 0 0 0 50 1577 AA 1 1 0 + 13 60 478 0 0 34.576574 143 60 5129 248 ENST00000305135.5 0.083333 1 YEATS2 55689 __UNKNOWN__ __UNKNOWN__ 3 183508714 183508714 __UNKNOWN__ Missense_Mutation SNP G G A rs74496163 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:183508714G>A ENST00000305135.5 + 21 3238 c.3043G>A c.(3043-3045)Gcc>Acc p.A1015T NM_018023.4 NP_060493.3 Q9ULM3 YETS2_HUMAN YEATS domain containing 2 1015 NA chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892) Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686) TBP-class protein binding (GO:0017025) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3) 49 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) CGTCGTCAGCGCCACGTCCCT 0.547 NA G||| 202 0.0403355 0.0121 0.0187 5008 , , NA 18546 0.1379 NA 0.001 False NA ,,, NA NA NA 2504 0.0337 NA NA NA NA 0 G THR/ALA 54,4064 0,54,2005 101 113 109 3043 1.9 0.1 3 dbSNP_131 109 12,8404 0,12,4196 yes missense YEATS2 NM_018023.4 58 0,66,6201 AA,AG,GG 0.1426,1.3113,0.5266 benign 1015/1423 183508714 66,12468 2059 4208 6267 SO:0001583 missense AB033023 CCDS43175.1 3q27.3 2004-08-18 ENSG00000163872 ENSG00000163872 55689 25489 protein-coding gene gene with protein product 613373 NA 10574462 Standard NM_018023 NM_018023 NA Approved FLJ10201, FLJ12841, FLJ13308, KIAA1197 uc003fly.2 Q9ULM3 OTTHUMG00000156898 ENST00000305135.5:c.3043G>A chr3.hg19:g.183508714G>A ENSP00000306983:p.Ala1015Thr NA A7E2B9|D3DNS9|Q641P6|Q9NW96 hg19 CCDS43175.1 0.02 8.562555 AGCxCCA COVERED 87|87 0.03983516483516483|0.03983516483516483 7|7 0.014227642276422764|0.014227642276422764 5|5 0.013812154696132596|0.013812154696132596 75|75 0.13111888111888112|0.13111888111888112 0|0 0.0|0.0 G|G 10.94|10.94 1.491927|1.491927 0.26774|0.26774 0.013113|0.013113 0.001426|0.001426 ENSG00000163872|ENSG00000163872 ENST00000421660;ENST00000305135|ENST00000432781 T|. 0.31510|. 1.49|. 5.68|5.68 1.92|1.92 0.25849|0.25849 .|. 0.501287|. 0.20154|. N|. 0.098087|. T|T 0.00210|0.00210 0.0006|0.0006 N|N 0.19112|0.19112 0.55|0.55 0.09310|0.09310 N|N 0.999998|0.999998 B;B|. 0.09022|. 0.001;0.002|. B;B|. 0.06405|. 0.002;0.001|. T|T 0.18618|0.18618 -1.0331|-1.0331 10|5 0.34782|. T|. 0.22|. -7.2556|-7.2556 5.5744|5.5744 0.17215|0.17215 0.2933:0.1327:0.574:0.0|0.2933:0.1327:0.574:0.0 .|. 177;1015|. Q8N5H6;Q9ULM3|. .;YETS2_HUMAN|. T|H 1015|200 ENSP00000306983:A1015T|. ENSP00000306983:A1015T|. A|R +|+ 1|2 0|0 YEATS2|YEATS2 184991408|184991408 0.249000|0.249000 0.23941|0.23941 0.062000|0.062000 0.19696|0.19696 0.527000|0.527000 0.34593|0.34593 1.047000|1.047000 0.30367|0.30367 0.072000|0.072000 0.16694|0.16694 -0.224000|-0.224000 0.12420|0.12420 GCC|CGC NOVEL YEATS2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000346507.2 2 24.374422 KEEP 0 0 0 81 2762 GG 1 1 0 + 17 60 606 0 0 42.496041 210 60 7318 396 ENST00000305135.5 0.07489 1 YEATS2 55689 __UNKNOWN__ __UNKNOWN__ 3 183515682 183515682 __UNKNOWN__ Intron SNP A A G rs2304753 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:183515682A>G ENST00000305135.5 + 22 3292 NM_018023.4 NP_060493.3 Q9ULM3 YETS2_HUMAN YEATS domain containing 2 NA NA chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892) Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686) TBP-class protein binding (GO:0017025) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3) 49 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) CTGACCTTCAACTTGGCTTTA 0.468 NA A||| 195 0.0389377 0.0068 0.0187 5008 , , NA 17777 0.1379 NA 0.001 False NA ,,, NA NA NA 2504 0.0337 NA NA NA NA 0 A 32,3890 0,32,1929 72 71 72 -6.6 0 3 dbSNP_100 72 11,8269 0,11,4129 no intron YEATS2 NM_018023.4 0,43,6058 GG,GA,AA 0.1329,0.8159,0.3524 183515682 43,12159 1961 4140 6101 SO:0001627 intron_variant AB033023 CCDS43175.1 3q27.3 2004-08-18 ENSG00000163872 ENSG00000163872 55689 25489 protein-coding gene gene with protein product 613373 NA 10574462 Standard NM_018023 NM_018023 NA Approved FLJ10201, FLJ12841, FLJ13308, KIAA1197 uc003fly.2 Q9ULM3 OTTHUMG00000156898 ENST00000305135.5:c.3098-29A>G chr3.hg19:g.183515682A>G NA A7E2B9|D3DNS9|Q641P6|Q9NW96 hg19 CCDS43175.1 0.02 8.226033 TCAxCTT COVERED NOVEL YEATS2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000346507.2 0 15.346478 KEEP 0 0 0 51 1625 AA 1 1 0 + 8 60 274 0 0 16.142986 223 60 7959 363 ENST00000305135.5 0.034632 1 YEATS2 55689 __UNKNOWN__ __UNKNOWN__ 3 183526860 183526860 __UNKNOWN__ Intron SNP A A G rs2304751 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:183526860A>G ENST00000305135.5 + 30 4281 YEATS2-AS1_ENST00000609195.1_RNA|YEATS2-AS1_ENST00000425008.3_RNA|YEATS2-AS1_ENST00000609871.1_RNA NM_018023.4 NP_060493.3 Q9ULM3 YETS2_HUMAN YEATS domain containing 2 NA NA chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892) Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686) TBP-class protein binding (GO:0017025) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3) 49 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) GGCCATTTGAAGAATAACAGC 0.448 NA A||| 195 0.0389377 0.0068 0.0187 5008 , , NA 19089 0.1379 NA 0.001 False NA ,,, NA NA NA 2504 0.0337 NA NA NA NA 0 A 29,3831 0,29,1901 171 166 168 0.2 0 3 dbSNP_100 168 12,8244 0,12,4116 no intron YEATS2 NM_018023.4 0,41,6017 GG,GA,AA 0.1453,0.7513,0.3384 183526860 41,12075 1930 4128 6058 SO:0001627 intron_variant AB033023 CCDS43175.1 3q27.3 2004-08-18 ENSG00000163872 ENSG00000163872 55689 25489 protein-coding gene gene with protein product 613373 NA 10574462 Standard NM_018023 NM_018023 NA Approved FLJ10201, FLJ12841, FLJ13308, KIAA1197 uc003fly.2 Q9ULM3 OTTHUMG00000156898 ENST00000305135.5:c.4087-25A>G chr3.hg19:g.183526860A>G NA A7E2B9|D3DNS9|Q641P6|Q9NW96 hg19 CCDS43175.1 0.02 4.776173 TGAxGAA COVERED NOVEL YEATS2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000346507.2 1 6.921895 KEEP 0 0 0 23 761 AA 0.999892 0.999892 0 + 8 60 312 0 0 21.503877 140 60 5171 211 ENST00000305135.5 0.054054 1 YEATS2 55689 __UNKNOWN__ __UNKNOWN__ 3 183530331 183530331 __UNKNOWN__ 3'UTR SNP G G C rs9874346 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:183530331G>C ENST00000305135.5 + 0 6424 NM_018023.4 NP_060493.3 Q9ULM3 YETS2_HUMAN YEATS domain containing 2 NA NA chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892) Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686) TBP-class protein binding (GO:0017025) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3) 49 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) CAGTCTCCACGTGTGTTAATG 0.318 NA G||| 196 0.0391374 0.0068 0.0187 5008 , , NA 20627 0.1379 NA 0.001 False NA ,,, NA NA NA 2504 0.0348 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB033023 CCDS43175.1 3q27.3 2004-08-18 ENSG00000163872 ENSG00000163872 55689 25489 protein-coding gene gene with protein product 613373 NA 10574462 Standard NM_018023 NM_018023 NA Approved FLJ10201, FLJ12841, FLJ13308, KIAA1197 uc003fly.2 Q9ULM3 OTTHUMG00000156898 ENST00000305135.5:c.*1960G>C chr3.hg19:g.183530331G>C NA A7E2B9|D3DNS9|Q641P6|Q9NW96 hg19 CCDS43175.1 0.02 6.097138 CACxTGT COVERED NOVEL YEATS2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000346507.2 1 9.029036 KEEP 0 0 0 30 1033 GG 0.999997 0.999997 0 + 6 60 222 0 0 13.500386 184 60 6534 260 ENST00000305135.5 0.031579 1 MAP6D1 79929 __UNKNOWN__ __UNKNOWN__ 3 183533789 183533789 __UNKNOWN__ 3'UTR SNP T T C rs3732584 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:183533789T>C ENST00000318631.3 - 0 1985 NM_024871.2 NP_079147.1 Q9H9H5 MA6D1_HUMAN MAP6 domain containing 1 NA NA dendrite morphogenesis (GO:0048813)|lysosome localization (GO:0032418)|microtubule cytoskeleton organization (GO:0000226)|N-terminal peptidyl-L-cysteine N-palmitoylation (GO:0018009)|negative regulation of microtubule depolymerization (GO:0007026) cis-Golgi network (GO:0005801)|Golgi-associated vesicle (GO:0005798)|microtubule (GO:0005874) endometrium(1)|lung(1) 2 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;5.15e-42)|Epithelial(37;4.29e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) GCCTCTTTTCTCTTAGAAAAA 0.393 NA T||| 190 0.0379393 0.0038 0.0187 5008 , , NA 19663 0.1379 NA 0.001 False NA ,,, NA NA NA 2504 0.0327 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC006434 CCDS3247.1 3q27.1 2005-12-22 ENSG00000180834 ENSG00000180834 79929 25753 protein-coding gene gene with protein product 610593 NA 12477932 Standard NM_024871 NM_024871 NA Approved FLJ12748 uc003fmc.2 Q9H9H5 OTTHUMG00000156900 ENST00000318631.3:c.*1355A>G chr3.hg19:g.183533789T>C NA hg19 CCDS3247.1 0.02 5.938717 TTCxCTT COVERED NOVEL MAP6D1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000346516.1 2 7.822987 KEEP 0 0 0 26 806 TT 0.999957 0.999957 0 - 8 60 285 0 0 18.230433 166 60 6063 232 ENST00000318631.3 0.045977 1 MAP6D1 79929 __UNKNOWN__ __UNKNOWN__ 3 183533964 183533964 __UNKNOWN__ 3'UTR SNP T T C rs8391 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:183533964T>C ENST00000318631.3 - 0 1810 NM_024871.2 NP_079147.1 Q9H9H5 MA6D1_HUMAN MAP6 domain containing 1 NA NA dendrite morphogenesis (GO:0048813)|lysosome localization (GO:0032418)|microtubule cytoskeleton organization (GO:0000226)|N-terminal peptidyl-L-cysteine N-palmitoylation (GO:0018009)|negative regulation of microtubule depolymerization (GO:0007026) cis-Golgi network (GO:0005801)|Golgi-associated vesicle (GO:0005798)|microtubule (GO:0005874) endometrium(1)|lung(1) 2 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;5.15e-42)|Epithelial(37;4.29e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) TGACAGGCAGTCGGAGCTGGA 0.592 NA C||| 2600 0.519169 0.4395 0.4957 5008 , , NA 17063 0.6627 NA 0.4722 False NA ,,, NA NA NA 2504 0.544 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC006434 CCDS3247.1 3q27.1 2005-12-22 ENSG00000180834 ENSG00000180834 79929 25753 protein-coding gene gene with protein product 610593 NA 12477932 Standard NM_024871 NM_024871 NA Approved FLJ12748 uc003fmc.2 Q9H9H5 OTTHUMG00000156900 ENST00000318631.3:c.*1180A>G chr3.hg19:g.183533964T>C NA hg19 CCDS3247.1 0.02 7.571922 CAGxCGG COVERED NOVEL MAP6D1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000346516.1 2 12.336963 KEEP 0 0 0 41 1313 TT 1 1 0 - 9 60 296 0 0 17.505075 217 60 7761 318 ENST00000318631.3 0.039823 1 MAP6D1 79929 __UNKNOWN__ __UNKNOWN__ 3 183534487 183534487 __UNKNOWN__ 3'UTR SNP G G C rs2606225 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:183534487G>C ENST00000318631.3 - 0 1287 NM_024871.2 NP_079147.1 Q9H9H5 MA6D1_HUMAN MAP6 domain containing 1 NA NA dendrite morphogenesis (GO:0048813)|lysosome localization (GO:0032418)|microtubule cytoskeleton organization (GO:0000226)|N-terminal peptidyl-L-cysteine N-palmitoylation (GO:0018009)|negative regulation of microtubule depolymerization (GO:0007026) cis-Golgi network (GO:0005801)|Golgi-associated vesicle (GO:0005798)|microtubule (GO:0005874) endometrium(1)|lung(1) 2 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;5.15e-42)|Epithelial(37;4.29e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) TTAGAACCTAGCACAAGGTAA 0.423 NA C||| 2483 0.495807 0.3578 0.4856 5008 , , NA 22610 0.6627 NA 0.4702 False NA ,,, NA NA NA 2504 0.544 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC006434 CCDS3247.1 3q27.1 2005-12-22 ENSG00000180834 ENSG00000180834 79929 25753 protein-coding gene gene with protein product 610593 NA 12477932 Standard NM_024871 NM_024871 NA Approved FLJ12748 uc003fmc.2 Q9H9H5 OTTHUMG00000156900 ENST00000318631.3:c.*657C>G chr3.hg19:g.183534487G>C NA hg19 CCDS3247.1 0.02 6.551343 CTAxCAC COVERED NOVEL MAP6D1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000346516.1 1 2.544643 KEEP 0 1 36 21 748 GG 0.999879 0.999879 0 - 10 60 366 0 0 25.102621 151 60 5731 204 ENST00000318631.3 0.062112 1 ABCC5 10057 __UNKNOWN__ __UNKNOWN__ 3 183681056 183681056 __UNKNOWN__ Intron SNP T T G rs2292999 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:183681056T>G ENST00000334444.6 - 15 2476 ABCC5_ENST00000265586.6_Intron NM_005688.2 NP_005679.2 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 5 NA NA carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810) integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495) GCTAAGAAAATGAAACCTTGA 0.448 NA T||| 397 0.0792732 0.0076 0.0389 5008 , , NA 7213 0.1627 NA 0.0666 False NA ,,, NA NA NA 2504 0.1319 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF104942 CCDS33898.1, CCDS43176.1 3q27 2012-03-14 ENSG00000114770 ENSG00000114770 10057 ATP binding cassette transporters / subfamily C 56 protein-coding gene gene with protein product 605251 NA 8894702, 9827529 Standard NM_005688 XM_005247058 NA Approved MRP5, SMRP, EST277145, MOAT-C uc003fmg.3 O15440 OTTHUMG00000156871 ENST00000334444.6:c.2235+116A>C chr3.hg19:g.183681056T>G NA B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3 hg19 CCDS43176.1 0.02 2.129626 AAAxGAA COVERED NOVEL ABCC5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000346350.1 1 2.40532 KEEP 0 0 0 8 214 TT 0.99257 0.991047 0 - 5 60 176 0 0 12.016866 70 60 2534 83 ENST00000334444.6 0.066667 0.998465 ABCC5 10057 __UNKNOWN__ __UNKNOWN__ 3 183683145 183683145 __UNKNOWN__ Intron SNP A A G rs3817403 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:183683145A>G ENST00000334444.6 - 13 2199 ABCC5_ENST00000265586.6_Intron NM_005688.2 NP_005679.2 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 5 NA NA carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810) integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495) AAAGCATGACAGAAGCCAAAC 0.532 NA A||| 130 0.0259585 0.0 0.0058 5008 , , NA 23766 0.0625 NA 0.005 False NA ,,, NA NA NA 2504 0.0593 NA NA NA NA 0 A 1,4277 0,1,2138 126 124 125 2.6 1 3 dbSNP_107 125 4,8498 0,4,4247 no intron ABCC5 NM_005688.2 0,5,6385 GG,GA,AA 0.047,0.0234,0.0391 183683145 5,12775 2139 4251 6390 SO:0001627 intron_variant AF104942 CCDS33898.1, CCDS43176.1 3q27 2012-03-14 ENSG00000114770 ENSG00000114770 10057 ATP binding cassette transporters / subfamily C 56 protein-coding gene gene with protein product 605251 NA 8894702, 9827529 Standard NM_005688 XM_005247058 NA Approved MRP5, SMRP, EST277145, MOAT-C uc003fmg.3 O15440 OTTHUMG00000156871 ENST00000334444.6:c.1958+19T>C chr3.hg19:g.183683145A>G NA B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3 hg19 CCDS43176.1 0.02 17.4972 GACxGAA COVERED NOVEL ABCC5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000346350.1 4 18.656746 KEEP 0 0 0 62 1951 AA 1 1 0 - 16 60 574 0 0 35.300969 418 60 15498 601 ENST00000334444.6 0.036866 1 HTR3D 200909 __UNKNOWN__ __UNKNOWN__ 3 183754585 183754585 __UNKNOWN__ Silent SNP C C T rs56365132 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:183754585C>T ENST00000382489.3 + 5 561 c.561C>T c.(559-561)acC>acT p.T187T HTR3D_ENST00000334128.2_Intron|HTR3D_ENST00000453435.1_Intron|HTR3D_ENST00000428798.2_Silent_p.T139T NM_001163646.1 NP_001157118.1 Q70Z44 5HT3D_HUMAN 5-hydroxytryptamine (serotonin) receptor 3D, ionotropic 187 NA ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) extracellular ligand-gated ion channel activity (GO:0005230) large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2) 10 all_cancers(143;2.33e-10)|Ovarian(172;0.0303) Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) Ergoloid mesylate(DB01049) ATCACAGAACCTCATTCAGAA 0.502 NA c||| 427 0.0852636 0.0166 0.0605 5008 , , NA 18179 0.1617 NA 0.0746 False NA ,,, NA NA NA 2504 0.1278 NA NA NA NA 0 ,, 44,1340 1,42,649 74 67 69 417,561, 1 0 3 dbSNP_129 69 181,3001 2,177,1412 no coding-synonymous,coding-synonymous,intron HTR3D NM_001145143.1,NM_001163646.1,NM_182537.2 ,, 3,219,2061 TT,TC,CC 5.6882,3.1792,4.9277 ,, 139/405,187/455, 183754585 225,4341 692 1591 2283 SO:0001819 synonymous_variant AY159812 CCDS3249.1, CCDS46966.1, CCDS54685.1 3q27 2012-05-22 2012-02-03 ENSG00000186090 ENSG00000186090 200909 5-HT (serotonin) receptors, Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic 24004 protein-coding gene gene with protein product 610122 5-hydroxytryptamine (serotonin) receptor 3 family member D NA 12801637 Standard NM_182537 NM_001145143 NA Approved uc011bqv.2 Q70Z44 OTTHUMG00000156858 ENST00000382489.3:c.561C>T chr3.hg19:g.183754585C>T NA C9J2I6|J3QT78|Q495N5|Q495N6|Q7Z6B3 hg19 CCDS54685.1 0.02 10.577187 AACxTCA COVERED NOVEL HTR3D-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000346289.1 2 9.932342 KEEP 0 0 0 33 1174 CC 0.999998 0.999998 0 + 12 60 433 0 0 27.961273 246 60 9203 362 ENST00000382489.3 0.046512 1 HTR3D 200909 __UNKNOWN__ __UNKNOWN__ 3 183756637 183756637 __UNKNOWN__ Silent SNP C C T rs56203055 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:183756637C>T ENST00000382489.3 + 8 1239 c.1239C>T c.(1237-1239)gcC>gcT p.A413A HTR3D_ENST00000334128.2_Silent_p.A238A|HTR3D_ENST00000453435.1_Silent_p.A192A|HTR3D_ENST00000428798.2_Silent_p.A363A NM_001163646.1 NP_001157118.1 Q70Z44 5HT3D_HUMAN 5-hydroxytryptamine (serotonin) receptor 3D, ionotropic 413 NA ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) extracellular ligand-gated ion channel activity (GO:0005230) large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2) 10 all_cancers(143;2.33e-10)|Ovarian(172;0.0303) Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) Ergoloid mesylate(DB01049) AACACGAGGCCCAGAAGCAGC 0.632 NA C||| 442 0.0882588 0.0287 0.0605 5008 , , NA 18173 0.1627 NA 0.0746 False NA ,,, NA NA NA 2504 0.1258 NA NA NA NA 0 C ,, 191,4215 120.4+/-158.0 7,177,2019 100 93 96 1089,1239,714 3 0.1 3 dbSNP_129 96 510,8090 145.0+/-200.8 11,488,3801 no coding-synonymous,coding-synonymous,coding-synonymous HTR3D NM_001145143.1,NM_001163646.1,NM_182537.2 ,, 18,665,5820 TT,TC,CC 5.9302,4.335,5.3898 ,, 363/405,413/455,238/280 183756637 701,12305 2203 4300 6503 SO:0001819 synonymous_variant AY159812 CCDS3249.1, CCDS46966.1, CCDS54685.1 3q27 2012-05-22 2012-02-03 ENSG00000186090 ENSG00000186090 200909 5-HT (serotonin) receptors, Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic 24004 protein-coding gene gene with protein product 610122 5-hydroxytryptamine (serotonin) receptor 3 family member D NA 12801637 Standard NM_182537 NM_001145143 NA Approved uc011bqv.2 Q70Z44 OTTHUMG00000156858 ENST00000382489.3:c.1239C>T chr3.hg19:g.183756637C>T NA C9J2I6|J3QT78|Q495N5|Q495N6|Q7Z6B3 hg19 CCDS54685.1 0.02 6.67163 GGCxCAG COVERED NOVEL HTR3D-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000346289.1 3 3.912456 KEEP 0 0 0 13 443 CC 0.994391 0.994391 0 + 17 60 598 0 0 42.982275 176 60 6270 223 ENST00000382489.3 0.088083 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 183770799 183770799 __UNKNOWN__ IGR SNP T T A rs140503436 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:183770799T>A NA NA HTR3D (13642 upstream) : HTR3C (35 downstream) NA NA NA CAGGGTGTGGTCTGAGCTCCT 0.547 NA T||| 10 0.00199681 0.0 0.0 5008 , , NA 18808 0.0089 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.183770799T>A NA hg19 0.02 10.10911 TGGxCTG COVERED NOVEL 0 3 9.929544 KEEP 0 0 0 33 1024 TT 0.999998 0.999998 0 10 60 354 0 0 21.675634 256 60 8882 345 0.037594 1 HTR3C 170572 __UNKNOWN__ __UNKNOWN__ 3 183778010 183778010 __UNKNOWN__ Missense_Mutation SNP G G C rs6807362 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:183778010G>C ENST00000318351.1 + 9 1248 c.1214G>C c.(1213-1215)gGa>gCa p.G405A NM_130770.2 NP_570126.2 Q8WXA8 5HT3C_HUMAN 5-hydroxytryptamine (serotonin) receptor 3C, ionotropic 405 NA G -> A (in dbSNP:rs6807362). {ECO:0000269|PubMed:12801637}. ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) extracellular ligand-gated ion channel activity (GO:0005230) p.G405A(1) central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2) 32 all_cancers(143;2.33e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) Ergoloid mesylate(DB01049) GGGGGCTCAGGATGGACAAAG 0.607 NA G||| 2786 0.55631 0.4418 0.6715 5008 , , NA 19887 0.746 NA 0.5676 False NA ,,, NA NA NA 2504 0.4223 NA NA NA NA 1 Substitution - Missense(1) stomach(1) G ALA/GLY 2079,2327 570.5+/-382.9 477,1125,601 124 113 117 1214 -6.8 0 3 dbSNP_116 117 4568,4032 597.4+/-393.8 1247,2074,979 yes missense HTR3C NM_130770.2 60 1724,3199,1580 CC,CG,GG 46.8837,47.1857,48.8928 benign 405/448 183778010 6647,6359 2203 4300 6503 SO:0001583 missense AF459285 CCDS3250.1 3q27 2012-05-22 2012-02-03 ENSG00000178084 ENSG00000178084 170572 5-HT (serotonin) receptors, Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic 24003 protein-coding gene gene with protein product 610121 5-hydroxytryptamine (serotonin) receptor 3, family member C NA 12801637, 15157181 Standard NM_130770 NM_130770 NA Approved uc003fmk.3 Q8WXA8 OTTHUMG00000156862 ENST00000318351.1:c.1214G>C chr3.hg19:g.183778010G>C ENSP00000322617:p.Gly405Ala NA A2RRR5 hg19 CCDS3250.1 0.02 20.875483 CAGxATG COVERED 1298 0.5943223443223443 211 0.42886178861788615 232 0.6408839779005525 428 0.7482517482517482 427 0.5633245382585752 G 1.740 -0.491959 0.04322 0.471857 0.531163 ENSG00000178084 ENST00000318351 D 0.82081 -1.57 3.66 -6.84 0.01687 Neurotransmitter-gated ion-channel transmembrane domain (1); 1.216240 0.06253 N 0.692431 T 0.00012 0.0000 L 0.46157 1.445 0.80722 P 0.0 P 0.38788 0.647 B 0.32980 0.156 T 0.32295 -0.9912 9 0.15952 T 0.53 . 6.4174 0.21723 0.2833:0.1682:0.5484:0.0 rs6807362;rs52825356;rs6807362 405 Q8WXA8 5HT3C_HUMAN A 405 ENSP00000322617:G405A ENSP00000322617:G405A G + 2 0 HTR3C 185260704 0.000000 0.05858 0.000000 0.03702 0.034000 0.12701 -0.507000 0.06352 -0.832000 0.04251 0.563000 0.77884 GGA NOVEL HTR3C-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000346296.1 2 8.126456 KEEP 0 0 0 27 951 GG 0.999988 0.999988 0 + 25 60 938 0 0 63.350413 444 60 15984 535 ENST00000318351.1 0.053305 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 183801783 183801783 __UNKNOWN__ IGR SNP C C G rs7609998 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:183801783C>G NA NA HTR3C (23324 upstream) : Y_RNA (2795 downstream) NA NA NA TGTCCATACTCGCCCTTCACA 0.632 NA C||| 3089 0.616813 0.851 0.5562 5008 , , NA 17726 0.7302 NA 0.4881 False NA ,,, NA NA NA 2504 0.3589 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.183801783C>G NA hg19 0.02 2.15955 ACTxGCC COVERED NOVEL 0 0 3.008445 KEEP 0 0 0 10 310 CC 0.992708 0.992199 0 4 60 158 0 0 10.747764 79 60 2833 109 0.048193 0.999487 HTR3E 285242 __UNKNOWN__ __UNKNOWN__ 3 183818416 183818416 __UNKNOWN__ Missense_Mutation SNP G G A rs7627615 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:183818416G>A ENST00000415389.2 + 2 677 c.211G>A c.(211-213)Gcg>Acg p.A71T HTR3E_ENST00000436361.2_Missense_Mutation_p.A86T|HTR3E-AS1_ENST00000431427.1_RNA|HTR3E_ENST00000425359.2_Missense_Mutation_p.A71T|HTR3E_ENST00000440596.2_Missense_Mutation_p.A86T|HTR3E_ENST00000335304.2_Missense_Mutation_p.A86T NM_001256613.1|NM_198313.2 NP_001243542.1|NP_938055.1 A5X5Y0 5HT3E_HUMAN 5-hydroxytryptamine (serotonin) receptor 3E, ionotropic 71 NA A -> T (in dbSNP:rs7627615). {ECO:0000269|PubMed:19012743}. ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) extracellular ligand-gated ion channel activity (GO:0005230) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 40 all_cancers(143;1.46e-10)|Ovarian(172;0.0303) Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) Ergoloid mesylate(DB01049) CATCTCCTTCGCGATGTCTGC 0.562 NA A||| 3677 0.734225 0.9251 0.683 5008 , , NA 19111 0.7679 NA 0.6233 False NA ,,, NA NA NA 2504 0.592 NA NA NA Melanoma(7;227 727 6634 44770) NA 0 A THR/ALA 3837,569 252.7+/-259.0 1664,509,30 131 124 126 256 2.6 0.7 3 dbSNP_116 126 5058,3542 515.0+/-378.5 1492,2074,734 yes missense HTR3E NM_182589.2 58 3156,2583,764 AA,AG,GG 41.186,12.9142,31.6085 benign 86/472 183818416 8895,4111 2203 4300 6503 SO:0001583 missense AY159813 CCDS3251.1, CCDS58868.1, CCDS58869.1, CCDS58870.1, CCDS58871.1 3q27 2012-05-22 2012-02-03 ENSG00000186038 ENSG00000186038 285242 5-HT (serotonin) receptors, Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic 24005 protein-coding gene gene with protein product 610123 5-hydroxytryptamine (serotonin) receptor 3, family member E NA 12801637, 15157181 Standard NM_182589 NM_001256613 NA Approved uc010hxr.3 A5X5Y0 OTTHUMG00000156857 ENST00000415389.2:c.211G>A chr3.hg19:g.183818416G>A ENSP00000401444:p.Ala71Thr NA A8IKD7|E9PGF1|Q495G1|Q495G3|Q6V706|Q6V707|Q7Z6B2 hg19 CCDS58868.1 0.02 27.520897 TTCxCGA COVERED 1628 0.7454212454212454 454 0.9227642276422764 259 0.7154696132596685 444 0.7762237762237763 471 0.6213720316622692 a 2.027 -0.423357 0.04734 0.870858 0.58814 ENSG00000186038 ENST00000415389;ENST00000425359;ENST00000335304;ENST00000436361;ENST00000440596 T;T;T;T;T 0.76709 -1.04;-0.95;-1.04;-0.95;-0.95 3.8 2.64 0.31445 Neurotransmitter-gated ion-channel ligand-binding (3); 0.082933 0.45606 N 0.000347 T 0.00012 0.0000 N 0.00162 -1.95 0.54753 P 2.0000000000020002E-5 B;B;B;B;B 0.06786 0.0;0.0;0.001;0.001;0.0 B;B;B;B;B 0.04013 0.001;0.001;0.001;0.0;0.0 T 0.40459 -0.9562 9 0.02654 T 1 . 6.6865 0.23148 0.79:0.0:0.21:0.0 rs7627615;rs58776757;rs7627615 86;71;86;86;71 E9PGF1;A5X5Y0;A5X5Y0-4;A5X5Y0-3;A5X5Y0-2 .;5HT3E_HUMAN;.;.;. T 71;71;86;86;86 ENSP00000401444:A71T;ENSP00000401900:A71T;ENSP00000335511:A86T;ENSP00000395833:A86T;ENSP00000406050:A86T ENSP00000335511:A86T A + 1 0 HTR3E 185301110 0.995000 0.38212 0.720000 0.30636 0.794000 0.44872 3.012000 0.49575 0.176000 0.19873 -0.254000 0.11334 GCG NOVEL HTR3E-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000346284.1 3 13.844821 KEEP 0 0 0 46 1614 GG 1 1 0 + 46 60 1658 0 0 117.055638 561 60 20496 820 ENST00000415389.2 0.075783 1 DVL3 1857 __UNKNOWN__ __UNKNOWN__ 3 183889599 183889599 __UNKNOWN__ 3'UTR SNP G G C rs78781771 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:183889599G>C ENST00000313143.3 + 0 3455 EIF2B5_ENST00000444495.1_Intron NM_004423.3 NP_004414.3 Q92997 DVL3_HUMAN dishevelled segment polarity protein 3 NA NA canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|intracellular signal transduction (GO:0035556)|non-canonical Wnt signaling pathway (GO:0035567)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|outflow tract septum morphogenesis (GO:0003148)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071) cell cortex (GO:0005938) beta-catenin binding (GO:0008013)|frizzled binding (GO:0005109)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102) breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1) 35 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22) AGCCTGCGGCGGGGGGAGGGG 0.537 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D86963 CCDS3253.1 3q27 2013-05-22 2013-05-22 ENSG00000161202 ENSG00000161202 1857 Dishevelled homologs 3087 protein-coding gene gene with protein product 601368 dishevelled 3 (homologous to Drosophila dsh), dishevelled, dsh homolog 3 (Drosophila) NA 8817329 Standard NM_004423 NM_004423 NA Approved KIAA0208 uc003fms.3 Q92997 OTTHUMG00000156841 ENST00000313143.3:c.*1056G>C chr3.hg19:g.183889599G>C NA B4E3E5|D3DNT0|O14642|Q13531|Q8N5E9|Q92607 hg19 CCDS3253.1 0.02 15.482036 GGCxGGG COVERED NOVEL DVL3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000346184.1 1 27.988648 KEEP 0 0 0 93 3170 GG 1 1 0 + 22 60 769 0 0 50.923566 358 60 12470 618 ENST00000313143.3 0.057895 1 ABCF3 55324 __UNKNOWN__ __UNKNOWN__ 3 183911058 183911058 __UNKNOWN__ Intron SNP T T C rs6787334 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:183911058T>C ENST00000429586.2 + 19 2068 ABCF3_ENST00000292808.5_Intron|EIF2B5_ENST00000444495.1_Intron NM_018358.2 NP_060828.2 Q9NUQ8 ABCF3_HUMAN ATP-binding cassette, sub-family F (GCN20), member 3 NA NA defense response to virus (GO:0051607) membrane (GO:0016020) ATP binding (GO:0005524)|ATPase activity (GO:0016887) breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1) 39 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TCCCCTCCCATTTCCCCTTCT 0.557 NA T||| 330 0.0658946 0.18 0.0461 5008 , , NA 20375 0.0536 NA 0.006 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 T 650,3756 279.3+/-274.7 49,552,1602 75 80 78 -2.6 0 3 dbSNP_116 78 51,8549 32.8+/-85.7 0,51,4249 no intron ABCF3 NM_018358.2 49,603,5851 CC,CT,TT 0.593,14.7526,5.3898 183911058 701,12305 2203 4300 6503 SO:0001627 intron_variant U66685 CCDS3254.1 3q27.1 2012-05-16 ENSG00000161204 ENSG00000161204 55324 ATP binding cassette transporters / subfamily F 72 protein-coding gene gene with protein product NA 8894702 Standard NM_018358 NM_018358 NA Approved EST201864 uc003fmz.2 Q9NUQ8 OTTHUMG00000156824 ENST00000429586.2:c.1883+36T>C chr3.hg19:g.183911058T>C NA A8K241|Q86UA2|Q8NAN1|Q96GS8|Q9H7A8 hg19 CCDS3254.1 0.02 19.893577 CCAxTTC COVERED NOVEL ABCF3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000346047.1 1 25.557439 KEEP 0 0 0 85 2589 TT 1 1 0 + 22 60 843 0 0 57.555383 389 60 14095 584 ENST00000429586.2 0.053528 1 VWA5B2 90113 __UNKNOWN__ __UNKNOWN__ 3 183951135 183951135 __UNKNOWN__ Silent SNP C C T rs729377 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:183951135C>T ENST00000426955.2 + 3 580 c.480C>T c.(478-480)gcC>gcT p.A160A EIF2B5_ENST00000444495.1_Intron NM_138345.1 NP_612354.1 Q8N398 VW5B2_HUMAN von Willebrand factor A domain containing 5B2 160 NA breast(3)|endometrium(4)|kidney(1)|lung(1)|prostate(1)|skin(5) 15 CCCCGCTggccccgccaggcc 0.701 NA C||| 1498 0.299121 0.3684 0.2608 5008 , , NA 14658 0.3165 NA 0.2783 False NA ,,, NA NA NA 2504 0.2362 NA NA NA NA 0 11 15 14 NA NA 3 NA 183951135 692 1591 2283 SO:0001819 synonymous_variant CCDS54686.1 3q27.1 2008-07-25 2008-07-25 ENSG00000145198 ENSG00000145198 90113 25144 protein-coding gene gene with protein product NA 15231747 Standard XM_291077 NM_138345 NA Approved DKFZp761K032, LOC90113 uc011bra.2 Q8N398 OTTHUMG00000156820 ENST00000426955.2:c.480C>T chr3.hg19:g.183951135C>T NA B9EGN7 hg19 CCDS54686.1 0.02 6.336205 GGCxCCG COVERED NOVEL VWA5B2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000346004.2 3 14.721561 KEEP 0 0 0 49 1694 CC 1 1 0 + 10 60 337 0 0 21.388184 187 60 6611 296 ENST00000426955.2 0.050761 1 VWA5B2 90113 __UNKNOWN__ __UNKNOWN__ 3 183957467 183957467 __UNKNOWN__ Intron SNP G G T rs843332 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:183957467G>T ENST00000426955.2 + 15 2492 VWA5B2_ENST00000273794.5_Intron|EIF2B5_ENST00000444495.1_Intron NM_138345.1 NP_612354.1 Q8N398 VW5B2_HUMAN von Willebrand factor A domain containing 5B2 NA NA breast(3)|endometrium(4)|kidney(1)|lung(1)|prostate(1)|skin(5) 15 CTGCTGTCTTGCCTCCCCAGG 0.592 NA G||| 1002 0.20008 0.143 0.1844 5008 , , NA 19171 0.2351 NA 0.2247 False NA ,,, NA NA NA 2504 0.227 NA NA NA NA 0 G 214,1170 17,180,495 144 130 134 0.8 0 3 dbSNP_86 134 659,2523 68,523,1000 no intron VWA5B2 NM_138345.1 85,703,1495 TT,TG,GG 20.7102,15.4624,19.1196 183957467 873,3693 692 1591 2283 SO:0001627 intron_variant CCDS54686.1 3q27.1 2008-07-25 2008-07-25 ENSG00000145198 ENSG00000145198 90113 25144 protein-coding gene gene with protein product NA 15231747 Standard XM_291077 NM_138345 NA Approved DKFZp761K032, LOC90113 uc011bra.2 Q8N398 OTTHUMG00000156820 ENST00000426955.2:c.2393-10G>T chr3.hg19:g.183957467G>T NA B9EGN7 hg19 CCDS54686.1 0.02 10.505977 CTTxCCT COVERED NOVEL VWA5B2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000346004.2 4 15.929957 KEEP 0 0 0 53 1836 GG 1 1 0 + 14 60 510 0 0 33.355412 275 60 10520 430 ENST00000426955.2 0.048443 1 ALG3 10195 __UNKNOWN__ __UNKNOWN__ 3 183960252 183960252 __UNKNOWN__ 3'UTR SNP A A C rs706584 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:183960252A>C ENST00000445626.2 - 0 1493 ALG3_ENST00000418734.2_3'UTR|EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000397676.3_3'UTR NM_001006941.2 NP_001006942.1 Q92685 ALG3_HUMAN ALG3, alpha-1,3- mannosyltransferase NA NA cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) alpha-1,3-mannosyltransferase activity (GO:0000033)|dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase activity (GO:0052925) kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1) 9 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GAGTCCAACCAACCCCAGGTC 0.587 NA C||| 1247 0.249002 0.3215 0.196 5008 , , NA 18371 0.2351 NA 0.2256 False NA ,,, NA NA NA 2504 0.227 NA NA NA NA 0 C , 1025,2827 146,733,1047 38 41 40 , 1.9 0 3 dbSNP_86 40 1676,6576 177,1322,2627 no utr-3,utr-3 ALG3 NM_001006941.2,NM_005787.5 , 323,2055,3674 CC,CA,AA 20.3102,26.6096,22.3149 , , 183960252 2701,9403 1926 4126 6052 SO:0001624 3_prime_UTR_variant BC002839 CCDS46967.1, CCDS46968.1 3q27.3 2013-02-26 2013-02-26 ENSG00000214160 ENSG00000214160 10195 2.4.1.258 Dolichyl D-mannosyl phosphate dependent mannosyltransferases 23056 protein-coding gene gene with protein product carbohydrate deficient glycoprotein syndrome type IV, dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase, dol-P-Man dependent alpha-1,3- mannosyltransferase 608750 asparagine-linked glycosylation 3 homolog (yeast, alpha-1,3-mannosyltransferase), asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae) NA 1058125 Standard NM_005787 NM_005787 NA Approved NOT56L, Not56, CDGS4, D16Ertd36e uc003fne.2 Q92685 OTTHUMG00000156823 ENST00000445626.2:c.*50T>G chr3.hg19:g.183960252A>C NA A8JZZ6|Q9BT71 hg19 CCDS46967.1 0.02 9.212814 ACCxACC COVERED NOVEL ALG3-002 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000346034.1 0 10.529108 KEEP 0 0 0 35 1039 AA 0.999999 0.999999 0 - 10 60 383 0 0 24.956806 234 60 8282 334 ENST00000445626.2 0.040984 1 ECE2 9718 __UNKNOWN__ __UNKNOWN__ 3 183976108 183976108 __UNKNOWN__ Intron SNP T T C rs902415 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:183976108T>C ENST00000402825.3 + 2 480 EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000324557.4_Silent_p.F171F NM_014693.3 NP_055508.3 O60344 ECE2_HUMAN endothelin converting enzyme 2 NA NA brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486) cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168) breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4) 49 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GAGGCCGGTTTATCTCAATGA 0.552 NA C||| 1629 0.32528 0.4818 0.2536 5008 , , NA 19663 0.3393 NA 0.2455 False NA ,,, NA NA NA 2504 0.2321 NA NA NA NA 0 C , 1812,2594 639.0+/-397.0 394,1024,785 146 138 141 ,513 3.2 1 3 dbSNP_86 141 1974,6626 723.8+/-406.5 226,1522,2552 no intron,coding-synonymous ECE2 NM_014693.3,NM_032331.3 , 620,2546,3337 CC,CT,TT 22.9535,41.1257,29.1096 , ,171/256 183976108 3786,9220 2203 4300 6503 SO:0001627 intron_variant AF428263 CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1 3q27.1 2007-07-26 ENSG00000145194 ENSG00000145194 9718 13275 protein-coding gene gene with protein product 610145 NA 11718899 Standard NM_014693 NM_032331 NA Approved KIAA0604, MGC2408 uc003fni.4 O60344 OTTHUMG00000150551 ENST00000402825.3:c.480+564T>C chr3.hg19:g.183976108T>C NA A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8 hg19 CCDS3256.2 0.02 7.136394 GTTxATC COVERED NOVEL ECE2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000318874.3 1 10.513914 KEEP 0 0 0 35 975 TT 0.999999 0.999999 0 + 11 60 413 0 0 28.769137 162 60 5605 231 ENST00000402825.3 0.063584 1 ECE2 9718 __UNKNOWN__ __UNKNOWN__ 3 183976694 183976694 __UNKNOWN__ Intron SNP G G A rs1709620 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:183976694G>A ENST00000402825.3 + 2 480 EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000324557.4_3'UTR NM_014693.3 NP_055508.3 O60344 ECE2_HUMAN endothelin converting enzyme 2 NA NA brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486) cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168) breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4) 49 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CCTGGAGACCGTTGTTCCTGG 0.532 NA g||| 993 0.198283 0.1309 0.1844 5008 , , NA 19487 0.2431 NA 0.2227 False NA ,,, NA NA NA 2504 0.228 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF428263 CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1 3q27.1 2007-07-26 ENSG00000145194 ENSG00000145194 9718 13275 protein-coding gene gene with protein product 610145 NA 11718899 Standard NM_014693 NM_032331 NA Approved KIAA0604, MGC2408 uc003fni.4 O60344 OTTHUMG00000150551 ENST00000402825.3:c.480+1150G>A chr3.hg19:g.183976694G>A NA A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8 hg19 CCDS3256.2 0.02 15.707163 ACCxTTG COVERED NOVEL ECE2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000318874.3 0 29.828137 KEEP 0 1 31 110 3722 GG 1 1 0 + 16 60 580 0 0 36.943372 360 60 12642 560 ENST00000402825.3 0.042553 1 ECE2 9718 __UNKNOWN__ __UNKNOWN__ 3 183976906 183976906 __UNKNOWN__ Intron SNP G G A rs1709621 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:183976906G>A ENST00000402825.3 + 2 480 EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000324557.4_3'UTR NM_014693.3 NP_055508.3 O60344 ECE2_HUMAN endothelin converting enzyme 2 NA NA brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486) cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168) breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4) 49 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CTTGGCAACCGTCCCTCACCA 0.577 NA G||| 475 0.0948482 0.0393 0.0634 5008 , , NA 17596 0.2262 NA 0.0775 False NA ,,, NA NA NA 2504 0.0746 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF428263 CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1 3q27.1 2007-07-26 ENSG00000145194 ENSG00000145194 9718 13275 protein-coding gene gene with protein product 610145 NA 11718899 Standard NM_014693 NM_032331 NA Approved KIAA0604, MGC2408 uc003fni.4 O60344 OTTHUMG00000150551 ENST00000402825.3:c.480+1362G>A chr3.hg19:g.183976906G>A NA A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8 hg19 CCDS3256.2 0.02 15.837736 ACCxTCC COVERED NOVEL ECE2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000318874.3 1 28.853221 KEEP 0 0 0 96 3204 GG 1 1 0 + 19 60 714 0 0 48.392785 332 60 11467 553 ENST00000402825.3 0.054131 1 ECE2 9718 __UNKNOWN__ __UNKNOWN__ 3 183994536 183994536 __UNKNOWN__ Intron SNP A A G rs843371 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:183994536A>G ENST00000402825.3 + 3 480 ECE2_ENST00000359140.4_Intron|ECE2_ENST00000357474.5_Intron|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000404464.3_Intron NM_014693.3 NP_055508.3 O60344 ECE2_HUMAN endothelin converting enzyme 2 NA NA brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486) cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168) breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4) 49 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) AACAGACTCAAGGCTCAACTC 0.587 NA G||| 3897 0.778155 0.9365 0.8242 5008 , , NA 19611 0.6786 NA 0.7913 False NA ,,, NA NA NA 2504 0.6207 NA NA NA NA 0 G ,,, 3992,384 1827,338,23 20 21 21 ,,, 2.6 0.1 3 dbSNP_86 21 6651,1919 2584,1483,218 no intron,intron,intron,intron ECE2 NM_001037324.2,NM_001100120.1,NM_001100121.1,NM_014693.3 ,,, 4411,1821,241 GG,GA,AA 22.3921,8.7751,17.7893 ,,, ,,, 183994536 10643,2303 2188 4285 6473 SO:0001627 intron_variant AF428263 CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1 3q27.1 2007-07-26 ENSG00000145194 ENSG00000145194 9718 13275 protein-coding gene gene with protein product 610145 NA 11718899 Standard NM_014693 NM_032331 NA Approved KIAA0604, MGC2408 uc003fni.4 O60344 OTTHUMG00000150551 ENST00000402825.3:c.481-144A>G chr3.hg19:g.183994536A>G NA A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8 hg19 CCDS3256.2 0.02 4.887249 TCAxGGC COVERED NOVEL ECE2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000318874.3 1 5.115907 KEEP 0 0 0 17 548 AA 0.999366 0.999366 0 + 8 60 312 0 0 22.138262 116 60 4243 167 ENST00000402825.3 0.064516 0.999999 ECE2 9718 __UNKNOWN__ __UNKNOWN__ 3 184009586 184009586 __UNKNOWN__ Intron SNP A A G rs35637422 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:184009586A>G ENST00000402825.3 + 19 2475 ECE2_ENST00000359140.4_Intron|ECE2_ENST00000357474.5_Intron|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000404464.3_Intron NM_014693.3 NP_055508.3 O60344 ECE2_HUMAN endothelin converting enzyme 2 NA NA brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486) cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168) breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4) 49 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) tggcctgtccagggctgccca 0.627 NA G||| 3891 0.776957 0.9554 0.8055 5008 , , NA 15747 0.6339 NA 0.7714 False NA ,,, NA NA NA 2504 0.6687 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF428263 CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1 3q27.1 2007-07-26 ENSG00000145194 ENSG00000145194 9718 13275 protein-coding gene gene with protein product 610145 NA 11718899 Standard NM_014693 NM_032331 NA Approved KIAA0604, MGC2408 uc003fni.4 O60344 OTTHUMG00000150551 ENST00000402825.3:c.2476-264A>G chr3.hg19:g.184009586A>G NA A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8 hg19 CCDS3256.2 0.02 9.896716 TCCxGGG COVERED NOVEL ECE2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000318874.3 2 14.140775 KEEP 0 0 0 47 1424 AA 1 1 0 + 22 70 771 0 0 55.933938 212 60 7677 330 ENST00000402825.3 0.094017 1 ECE2 9718 __UNKNOWN__ __UNKNOWN__ 3 184010048 184010048 __UNKNOWN__ 3'UTR SNP G G C rs3914188 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:184010048G>C ENST00000402825.3 + 0 2674 ECE2_ENST00000359140.4_3'UTR|ECE2_ENST00000357474.5_3'UTR|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000404464.3_3'UTR NM_014693.3 NP_055508.3 O60344 ECE2_HUMAN endothelin converting enzyme 2 NA NA brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486) cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168) breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4) 49 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GGGAGAAATGGCCAGCTGTCA 0.617 NA G||| 3520 0.702875 0.7141 0.7666 5008 , , NA 17923 0.6349 NA 0.7465 False NA ,,, NA NA NA 2504 0.6677 NA NA NA NA 0 G ,,, 3247,1159 1215,817,171 27 28 28 http://www.ncbi.nlm.nih.gov/pubmed?term ,,, 2.9 0 3 dbSNP_108 28 6433,2167 2417,1599,284 yes utr-3,utr-3,utr-3,utr-3 ECE2 NM_001037324.2,NM_001100120.1,NM_001100121.1,NM_014693.3 ,,, 3632,2416,455 CC,CG,GG http://www.ncbi.nlm.nih.gov/pubmed?term 25.1977,26.305,25.5728 ,,, ,,, 184010048 9680,3326 2203 4300 6503 SO:0001624 3_prime_UTR_variant AF428263 CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1 3q27.1 2007-07-26 ENSG00000145194 ENSG00000145194 9718 13275 protein-coding gene gene with protein product 610145 NA 11718899 Standard NM_014693 NM_032331 NA Approved KIAA0604, MGC2408 uc003fni.4 O60344 OTTHUMG00000150551 ENST00000402825.3:c.*22G>C chr3.hg19:g.184010048G>C NA A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8 hg19 CCDS3256.2 0.02 21.118493 ATGxCCA COVERED NOVEL ECE2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000318874.3 2 13.982064 KEEP 0 1 39 60 2103 GG 1 1 0 + 33 60 1198 0 0 84.241321 420 60 15481 588 ENST00000402825.3 0.072848 1 PSMD2 5708 __UNKNOWN__ __UNKNOWN__ 3 184016599 184016599 __UNKNOWN__ 5'UTR SNP G G T rs4912534 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:184016599G>T ENST00000310118.4 + 0 103 EIF2B5_ENST00000444495.1_Intron NM_002808.3 NP_002799.3 Q13200 PSMD2_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 2 NA NA anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838) enzyme regulator activity (GO:0030234) breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2) 27 all_cancers(143;1.54e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) Bortezomib(DB00188) CGTCCTGGACGTCAAGAAATC 0.458 NA g||| 2044 0.408147 0.6082 0.5101 5008 , , NA 14872 0.376 NA 0.2714 False NA ,,, NA NA NA 2504 0.2393 NA NA NA Colon(24;313 636 6917 9932 15554) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AK095245 CCDS3258.1, CCDS63853.1, CCDS63854.1 3q27.3 2008-05-22 ENSG00000175166 ENSG00000175166 5708 Proteasome (prosome, macropain) subunits 9559 protein-coding gene gene with protein product 606223 NA 8774743 Standard NM_002808 NM_002808 NA Approved S2, P97, TRAP2, MGC14274, Rpn1 uc003fnn.1 Q13200 OTTHUMG00000156796 ENST00000310118.4:c.-456G>T chr3.hg19:g.184016599G>T NA B4DX07|B4DXY1|E7EW34|E9PCS3|Q12932|Q15321|Q53XQ4|Q96I12 hg19 CCDS3258.1 0.02 8.756693 GACxTCA COVERED NOVEL PSMD2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000345843.1 3 33.405727 KEEP 0 0 0 111 3774 GG 1 1 0 + 7 60 264 0 0 16.329739 209 60 7296 402 ENST00000310118.4 0.032407 1 EIF4G1 1981 __UNKNOWN__ __UNKNOWN__ 3 184039666 184039666 __UNKNOWN__ Missense_Mutation SNP A A G rs2178403 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:184039666A>G ENST00000392537.2 + 7 1280 c.1033A>G c.(1033-1035)Atg>Gtg p.M345V EIF4G1_ENST00000441154.1_Missense_Mutation_p.M268V|EIF4G1_ENST00000382330.3_Missense_Mutation_p.M439V|EIF4G1_ENST00000414031.1_Missense_Mutation_p.M392V|EIF4G1_ENST00000346169.2_Missense_Mutation_p.M432V|EIF4G1_ENST00000435046.2_Missense_Mutation_p.M236V|EIF4G1_ENST00000319274.6_Missense_Mutation_p.M432V|EIF4G1_ENST00000434061.2_Missense_Mutation_p.M236V|EIF4G1_ENST00000342981.4_Missense_Mutation_p.M432V|EIF4G1_ENST00000352767.3_Missense_Mutation_p.M439V|EIF4G1_ENST00000411531.1_Missense_Mutation_p.M392V|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000427845.1_Missense_Mutation_p.M345V|EIF4G1_ENST00000424196.1_Missense_Mutation_p.M439V|EIF4G1_ENST00000350481.5_Missense_Mutation_p.M268V NM_198244.2 NP_937887 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 gamma, 1 432 NA cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032) cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020) poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743) central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 75 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GACAGCATCAATGGCGCCCCC 0.587 NA G||| 3918 0.782348 0.9834 0.7968 5008 , , NA 18037 0.6528 NA 0.7525 False NA ,,, NA NA NA 2504 0.6646 NA NA NA NA 0 G VAL/MET,VAL/MET,VAL/MET,VAL/MET,VAL/MET,VAL/MET,VAL/MET 4159,247 142.7+/-177.9 1968,223,12 119 123 121 1315,1315,706,1294,1294,802,1033 2.8 0 3 dbSNP_96 121 6518,2082 360.6+/-332.0 2472,1574,254 yes missense,missense,missense,missense,missense,missense,missense EIF4G1 NM_001194946.1,NM_001194947.1,NM_004953.4,NM_182917.4,NM_198241.2,NM_198242.2,NM_198244.2 21,21,21,21,21,21,21 4440,1797,266 GG,GA,AA 24.2093,5.606,17.9071 benign,benign,benign,benign,benign,benign,benign 439/1607,439/1607,236/1405,432/1601,432/1600,268/1436,345/1513 184039666 10677,2329 2203 4300 6503 SO:0001583 missense D12686 CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1 3q27.1 2013-09-19 ENSG00000114867 ENSG00000114867 1981 Parkinson disease 3296 protein-coding gene gene with protein product 600495 EIF4G, EIF4F NA 1429670, 9372926, 21907011 Standard NM_182917 NM_182917 NA Approved p220, PARK18 uc010hxy.3 Q04637 OTTHUMG00000156784 ENST00000392537.2:c.1033A>G chr3.hg19:g.184039666A>G ENSP00000376320:p.Met345Val NA D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102 hg19 CCDS3260.1 0.02 6.526157 TCAxTGG COVERED 1706 0.7811355311355311 479 0.9735772357723578 282 0.7790055248618785 371 0.6486013986013986 574 0.7572559366754618 G 0.001 -3.351449 0.00016 0.94394 0.757907 ENSG00000114867 ENST00000346169;ENST00000414031;ENST00000392537;ENST00000450424;ENST00000421110;ENST00000382330;ENST00000426123;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000444861;ENST00000441154;ENST00000434061;ENST00000457456;ENST00000435046 T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T 0.61859 0.07;0.07;0.07;0.07;0.07;0.07;0.07;0.07;0.07;0.07;0.07;0.07;0.07;0.07;0.07;0.07;0.07;1.64;0.07 5.64 2.77 0.32553 . 1.699090 0.02685 N 0.110018 T 0.00012 0.0000 N 0.02011 -0.69 0.80722 P 0.0 B;B;B;B 0.02656 0.0;0.0;0.0;0.0 B;B;B;B 0.01281 0.0;0.0;0.0;0.0 T 0.42378 -0.9455 9 0.24483 T 0.36 0.0048 2.9723 0.05926 0.159:0.1391:0.5585:0.1434 rs2178403;rs52789514;rs59101277;rs2178403 439;432;432;439 E9PFM1;D3DNT2;Q04637;B2RU10 .;.;IF4G1_HUMAN;. V 432;392;345;432;439;439;373;268;439;345;432;432;439;392;268;268;236;236;236 ENSP00000316879:M432V;ENSP00000391935:M392V;ENSP00000376320:M345V;ENSP00000391412:M432V;ENSP00000413159:M439V;ENSP00000371767:M439V;ENSP00000403269:M373V;ENSP00000317600:M268V;ENSP00000338020:M439V;ENSP00000407682:M345V;ENSP00000343450:M432V;ENSP00000323737:M432V;ENSP00000416255:M439V;ENSP00000395974:M392V;ENSP00000398145:M268V;ENSP00000399858:M268V;ENSP00000411826:M236V;ENSP00000399969:M236V;ENSP00000404754:M236V ENSP00000323737:M432V M + 1 0 EIF4G1 185522360 0.001000 0.12720 0.001000 0.08648 0.002000 0.02628 0.724000 0.25954 0.310000 0.22990 -1.507000 0.00952 ATG NOVEL EIF4G1-003 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000345729.2 1 15.973659 KEEP 0 1 31 64 1870 AA 1 1 0 + 14 60 486 0 0 33.363277 183 60 6363 301 ENST00000392537.2 0.071066 1 EIF4G1 1981 __UNKNOWN__ __UNKNOWN__ 3 184046355 184046355 __UNKNOWN__ Intron SNP C C T rs1879244 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:184046355C>T ENST00000392537.2 + 24 3939 EIF4G1_ENST00000441154.1_Intron|EIF4G1_ENST00000382330.3_Intron|EIF4G1_ENST00000414031.1_Intron|EIF4G1_ENST00000346169.2_Intron|EIF4G1_ENST00000435046.2_Intron|EIF4G1_ENST00000319274.6_Intron|EIF4G1_ENST00000434061.2_Intron|EIF4G1_ENST00000342981.4_Intron|EIF4G1_ENST00000352767.3_Intron|EIF4G1_ENST00000411531.1_Intron|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000427845.1_Intron|EIF4G1_ENST00000424196.1_Intron|EIF4G1_ENST00000350481.5_Intron NM_198244.2 NP_937887 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 gamma, 1 NA NA cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032) cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020) poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743) central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 75 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) AGCCATGCCACGTTGCCCCAG 0.483 NA T||| 3899 0.778554 0.9826 0.7968 5008 , , NA 18750 0.6429 NA 0.7535 False NA ,,, NA NA NA 2504 0.6554 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D12686 CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1 3q27.1 2013-09-19 ENSG00000114867 ENSG00000114867 1981 Parkinson disease 3296 protein-coding gene gene with protein product 600495 EIF4G, EIF4F NA 1429670, 9372926, 21907011 Standard NM_182917 NM_182917 NA Approved p220, PARK18 uc010hxy.3 Q04637 OTTHUMG00000156784 ENST00000392537.2:c.3693-64C>T chr3.hg19:g.184046355C>T NA D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102 hg19 CCDS3260.1 0.02 4.343613 CCAxGTT COVERED NOVEL EIF4G1-003 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000345729.2 0 14.444876 KEEP 0 0 0 48 1622 CC 1 1 0 + 9 60 337 0 0 23.820792 120 60 4431 212 ENST00000392537.2 0.069767 1 CLCN2 1181 __UNKNOWN__ __UNKNOWN__ 3 184072632 184072632 __UNKNOWN__ Intron SNP G G C rs3749222 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:184072632G>C ENST00000434054.2 - 12 1388 CLCN2_ENST00000423355.2_Intron|CLCN2_ENST00000344937.7_Intron|CLCN2_ENST00000457512.1_Intron|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000265593.4_Intron NM_001171088.2 NP_001164559.1 P51788 CLCN2_HUMAN chloride channel, voltage-sensitive 2 NA NA cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810) chloride channel complex (GO:0034707)|plasma membrane (GO:0005886) adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247) breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 27 all_cancers(143;6.66e-11)|Ovarian(172;0.0339) Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) Lubiprostone(DB01046) GGGTTGGCTGGGGGGGTGGCC 0.632 NA G||| 324 0.0646965 0.1059 0.0274 5008 , , NA 13727 0.0665 NA 0.0606 False NA ,,, NA NA NA 2504 0.0378 NA NA NA NA 0 G ,,, 119,1265 7,105,580 21 30 28 ,,, -3.4 0 3 dbSNP_107 28 162,3018 9,144,1437 no intron,intron,intron,intron CLCN2 NM_001171087.1,NM_001171088.1,NM_001171089.1,NM_004366.4 ,,, 16,249,2017 CC,CG,GG 5.0943,8.5983,6.1569 ,,, ,,, 184072632 281,4283 692 1590 2282 SO:0001627 intron_variant S77770 CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1 3q27.1 2013-09-19 2012-02-23 ENSG00000114859 ENSG00000114859 1181 Ion channels / Chloride channels : Voltage-sensitive 2020 protein-coding gene gene with protein product 600570 chloride channel 2 NA 7795595 Standard NM_004366 NA Approved CLC2, EJM6, ClC-2 uc003foi.4 P51788 OTTHUMG00000156747 ENST00000434054.2:c.1264+59C>G chr3.hg19:g.184072632G>C NA B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13 hg19 CCDS54690.1 0.02 4.303468 CTGxGGG COVERED NOVEL CLCN2-003 NOVEL basic|appris_candidate|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000345573.1 1 18.036838 KEEP 0 0 0 60 2062 GG 1 1 0 - 8 60 277 0 0 18.084612 137 60 4972 248 ENST00000434054.2 0.055172 1 CLCN2 1181 __UNKNOWN__ __UNKNOWN__ 3 184073551 184073551 __UNKNOWN__ Silent SNP C C T rs3749221 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:184073551C>T ENST00000434054.2 - 10 1092 c.969G>A c.(967-969)ccG>ccA p.P323P CLCN2_ENST00000423355.2_Silent_p.P8P|CLCN2_ENST00000475279.1_5'UTR|CLCN2_ENST00000344937.7_Silent_p.P367P|CLCN2_ENST00000457512.1_Silent_p.P367P|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000265593.4_Silent_p.P367P NM_001171088.2 NP_001164559.1 P51788 CLCN2_HUMAN chloride channel, voltage-sensitive 2 367 NA cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810) chloride channel complex (GO:0034707)|plasma membrane (GO:0005886) adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247) breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 27 all_cancers(143;6.66e-11)|Ovarian(172;0.0339) Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) Lubiprostone(DB01046) TCACCAGAGCCGGGAAGAGCA 0.592 NA C||| 107 0.0213658 0.0008 0.013 5008 , , NA 20255 0.0565 NA 0.0308 False NA ,,, NA NA NA 2504 0.0092 NA NA NA NA 0 C ,,, 13,4393 20.2+/-43.8 0,13,2190 75 67 70 1101,969,1101,1101 -7.3 0.8 3 dbSNP_107 70 214,8386 90.6+/-152.8 2,210,4088 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous CLCN2 NM_001171087.1,NM_001171088.1,NM_001171089.1,NM_004366.4 ,,, 2,223,6278 TT,TC,CC 2.4884,0.2951,1.7453 ,,, 367/882,323/855,367/870,367/899 184073551 227,12779 2203 4300 6503 SO:0001819 synonymous_variant S77770 CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1 3q27.1 2013-09-19 2012-02-23 ENSG00000114859 ENSG00000114859 1181 Ion channels / Chloride channels : Voltage-sensitive 2020 protein-coding gene gene with protein product 600570 chloride channel 2 NA 7795595 Standard NM_004366 NA Approved CLC2, EJM6, ClC-2 uc003foi.4 P51788 OTTHUMG00000156747 ENST00000434054.2:c.969G>A chr3.hg19:g.184073551C>T NA B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13 hg19 CCDS54690.1 0.02 9.638091 AGCxGGG COVERED NOVEL CLCN2-003 NOVEL basic|appris_candidate|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000345573.1 2 27.382411 KEEP 0 0 0 91 3051 CC 1 1 0 - 9 60 355 0 0 23.514882 209 60 7563 391 ENST00000434054.2 0.041284 1 CLCN2 1181 __UNKNOWN__ __UNKNOWN__ 3 184075001 184075001 __UNKNOWN__ Silent SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:184075001G>A ENST00000434054.2 - 8 943 c.820C>T c.(820-822)Ctg>Ttg p.L274L CLCN2_ENST00000423355.2_5'UTR|CLCN2_ENST00000344937.7_Silent_p.L318L|CLCN2_ENST00000457512.1_Silent_p.L318L|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000265593.4_Silent_p.L318L NM_001171088.2 NP_001164559.1 P51788 CLCN2_HUMAN chloride channel, voltage-sensitive 2 318 NA cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810) chloride channel complex (GO:0034707)|plasma membrane (GO:0005886) adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247) breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 27 all_cancers(143;6.66e-11)|Ovarian(172;0.0339) Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) Lubiprostone(DB01046) AGCTCCTGCAGGTCAAAGGGG 0.582 NA NA NA NA NA NA NA NA NA NA NA 0 34 37 36 NA NA 3 NA 184075001 2203 4300 6503 SO:0001819 synonymous_variant S77770 CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1 3q27.1 2013-09-19 2012-02-23 ENSG00000114859 ENSG00000114859 1181 Ion channels / Chloride channels : Voltage-sensitive 2020 protein-coding gene gene with protein product 600570 chloride channel 2 NA 7795595 Standard NM_004366 NA Approved CLC2, EJM6, ClC-2 uc003foi.4 P51788 OTTHUMG00000156747 ENST00000434054.2:c.820C>T chr3.hg19:g.184075001G>A NA B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13 hg19 CCDS54690.1 0.02 6.236638 GCAxGTC COVERED NOVEL CLCN2-003 NOVEL basic|appris_candidate|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000345573.1 1 31.302207 KEEP 0 0 0 104 3707 GG 1 1 0 - 6 60 218 0 0 13.008421 191 60 7051 386 ENST00000434054.2 0.030457 1 MAGEF1 64110 __UNKNOWN__ __UNKNOWN__ 3 184428903 184428903 __UNKNOWN__ Missense_Mutation SNP T T G rs9872799 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:184428903T>G ENST00000317897.3 - 1 933 c.707A>C c.(706-708)gAa>gCa p.E236A NM_022149.4 NP_071432.2 Q9HAY2 MAGF1_HUMAN melanoma antigen family F, 1 236 MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}. NA E -> A (in Ref. 1; AAG30208, 2; AAG38606 and 3; AAH10056). {ECO:0000305}. extracellular vesicular exosome (GO:0070062) breast(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|urinary_tract(1) 11 all_cancers(143;4.61e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;5.64e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.56e-22) GAATTCATATTCTGGTGGATT 0.493 NA T||| 2788 0.556709 0.5091 0.4986 5008 , , NA 14367 0.4365 NA 0.7604 False NA ,,, NA NA NA 2504 0.5767 NA NA NA NA 0 T ALA/GLU 2326,2080 603.0+/-390.0 623,1080,500 63 70 68 707 -0.9 0 3 dbSNP_119 68 6409,2191 710.9+/-405.8 2416,1577,307 yes missense MAGEF1 NM_022149.4 107 3039,2657,807 GG,GT,TT 25.4767,47.2084,32.8387 probably-damaging 236/308 184428903 8735,4271 2203 4300 6503 SO:0001583 missense AF295378 CCDS3269.1 3q13 2008-02-05 ENSG00000177383 ENSG00000177383 64110 29639 protein-coding gene gene with protein product 609267 NA 11313144 Standard NM_022149 NM_022149 NA Approved uc003fpa.3 Q9HAY2 OTTHUMG00000156712 ENST00000317897.3:c.707A>C chr3.hg19:g.184428903T>G ENSP00000315064:p.Glu236Ala NA Q9H215 hg19 CCDS3269.1 0.02 8.979236 TATxCTG COVERED 1243 0.5691391941391941 248 0.5040650406504065 197 0.5441988950276243 228 0.3986013986013986 570 0.7519788918205804 T 14.46 2.540732 0.45280 0.527916 0.745233 ENSG00000177383 ENST00000317897 T 0.05199 3.48 4.49 -0.905 0.10527 . 0.057690 0.64402 D 0.000002 T 0.00012 0.0000 L 0.43923 1.385 0.80722 P 0.0 D 0.60575 0.988 D 0.64506 0.926 T 0.35226 -0.9797 9 0.31617 T 0.26 . 4.2177 0.10542 0.0:0.1922:0.3459:0.462 rs9872799;rs61698445;rs9872799 236 Q9HAY2 MAGF1_HUMAN A 236 ENSP00000315064:E236A ENSP00000315064:E236A E - 2 0 MAGEF1 185911597 0.012000 0.17670 0.000000 0.03702 0.493000 0.33554 1.259000 0.32956 -0.213000 0.10094 0.528000 0.53228 GAA NOVEL MAGEF1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000345417.1 4 15.785104 KEEP 0 4 145 103 3125 TT 1 1 0 - 12 60 436 0 0 28.480228 236 60 7807 523 ENST00000317897.3 0.048387 1 MAGEF1 64110 __UNKNOWN__ __UNKNOWN__ 3 184429414 184429414 __UNKNOWN__ Missense_Mutation SNP C C A rs10937187 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:184429414C>A ENST00000317897.3 - 1 422 c.196G>T c.(196-198)Gcc>Tcc p.A66S NM_022149.4 NP_071432.2 Q9HAY2 MAGF1_HUMAN melanoma antigen family F, 1 66 NA A -> S (in Ref. 1; AAG30208, 2; AAG38606 and 3; AAH10056). {ECO:0000305}. extracellular vesicular exosome (GO:0070062) breast(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|urinary_tract(1) 11 all_cancers(143;4.61e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;5.64e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.56e-22) CTTGCCAAGGCTTTGGCCGCC 0.682 NA C||| 2469 0.493011 0.3094 0.4741 5008 , , NA 14464 0.4355 NA 0.7356 False NA ,,, NA NA NA 2504 0.5644 NA NA NA NA 0 C SER/ALA 1537,2869 464.9+/-354.0 294,949,960 51 57 55 196 2.1 0 3 dbSNP_120 55 6136,2462 677.6+/-403.4 2208,1720,371 no missense MAGEF1 NM_022149.4 99 2502,2669,1331 AA,AC,CC 28.6346,34.8842,40.9951 benign 66/308 184429414 7673,5331 2203 4299 6502 SO:0001583 missense AF295378 CCDS3269.1 3q13 2008-02-05 ENSG00000177383 ENSG00000177383 64110 29639 protein-coding gene gene with protein product 609267 NA 11313144 Standard NM_022149 NM_022149 NA Approved uc003fpa.3 Q9HAY2 OTTHUMG00000156712 ENST00000317897.3:c.196G>T chr3.hg19:g.184429414C>A ENSP00000315064:p.Ala66Ser NA Q9H215 hg19 CCDS3269.1 0.02 12.724396 AGGxTTT COVERED 1138 0.5210622710622711 153 0.31097560975609756 188 0.5193370165745856 230 0.4020979020979021 567 0.7480211081794196 C 8.197 0.797357 0.16327 0.348842 0.713654 ENSG00000177383 ENST00000317897 T 0.04015 3.73 3.02 2.1 0.27182 . 1.801530 0.03736 N 0.254234 T 0.00012 0.0000 N 0.19112 0.55 0.80722 P 0.0 B 0.22003 0.063 B 0.19666 0.026 T 0.25187 -1.0139 9 0.28530 T 0.3 . 5.094 0.14723 0.0:0.8169:0.0:0.1831 rs10937187;rs17856323;rs58208895;rs10937187 66 Q9HAY2 MAGF1_HUMAN S 66 ENSP00000315064:A66S ENSP00000315064:A66S A - 1 0 MAGEF1 185912108 0.008000 0.16893 0.019000 0.16419 0.020000 0.10135 1.444000 0.35068 0.581000 0.29539 0.655000 0.94253 GCC NOVEL MAGEF1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000345417.1 3 43.041273 KEEP 0 3 91 175 6260 CC 1 1 0 - 14 60 496 0 0 31.117567 317 60 11775 603 ENST00000317897.3 0.042296 1 MAGEF1 64110 __UNKNOWN__ __UNKNOWN__ 3 184429718 184429718 __UNKNOWN__ 5'UTR SNP A A G rs12011 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:184429718A>G ENST00000317897.3 - 0 118 NM_022149.4 NP_071432.2 Q9HAY2 MAGF1_HUMAN melanoma antigen family F, 1 NA NA extracellular vesicular exosome (GO:0070062) breast(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|urinary_tract(1) 11 all_cancers(143;4.61e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;5.64e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.56e-22) CGGGAGTACAAGGAGCAATGG 0.726 NA A||| 2616 0.522364 0.4183 0.4784 5008 , , NA 11801 0.4365 NA 0.7356 False NA ,,, NA NA NA 2504 0.5634 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF295378 CCDS3269.1 3q13 2008-02-05 ENSG00000177383 ENSG00000177383 64110 29639 protein-coding gene gene with protein product 609267 NA 11313144 Standard NM_022149 NM_022149 NA Approved uc003fpa.3 Q9HAY2 OTTHUMG00000156712 ENST00000317897.3:c.-109T>C chr3.hg19:g.184429718A>G NA Q9H215 hg19 CCDS3269.1 0.02 6.144262 ACAxGGA COVERED NOVEL MAGEF1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000345417.1 0 34.634276 KEEP 0 1 34 127 3902 AA 1 1 0 - 7 60 259 0 0 16.130083 189 60 6920 418 ENST00000317897.3 0.035714 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 184429871 184429871 __UNKNOWN__ IGR SNP G G A rs184175617 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:184429871G>A NA NA MAGEF1 (35 upstream) : RP11-329B9.4 (21991 downstream) NA NA NA CAGCCAGGACGGCGACCCTAG 0.711 NA G||| 7 0.00139776 0.0 0.0 5008 , , NA 11257 0.0069 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.184429871G>A NA hg19 0.02 4.362778 GACxGCG COVERED NOVEL 0 2 28.8265 KEEP 0 0 0 96 3293 GG 1 1 0 7 60 259 0 0 17.482235 120 60 4091 296 0.055118 1 VPS8 23355 __UNKNOWN__ __UNKNOWN__ 3 184742256 184742256 __UNKNOWN__ Intron SNP T T C rs2377256 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:184742256T>C ENST00000436792.2 + 45 4193 VPS8_ENST00000287546.4_Intron|VPS8_ENST00000446204.2_Intron|VPS8_ENST00000437079.3_Intron Q8N3P4 VPS8_HUMAN vacuolar protein sorting 8 homolog (S. cerevisiae) NA NA zinc ion binding (GO:0008270) NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22) ATTCTCAACATGGCAATGATT 0.378 NA T||| 752 0.15016 0.3805 0.0432 5008 , , NA 18813 0.1091 NA 0.0139 False NA ,,, NA NA NA 2504 0.0971 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK056661 CCDS46972.1 3q27.2 2006-07-07 2006-07-07 2006-07-07 ENSG00000156931 ENSG00000156931 23355 29122 protein-coding gene gene with protein product KIAA0804 KIAA0804 NA 9872452 Standard NM_015303 NM_001009921 NA Approved FLJ32099 uc003fpb.1 Q8N3P4 OTTHUMG00000156707 ENST00000436792.2:c.4050+79T>C chr3.hg19:g.184742256T>C NA A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0 hg19 CCDS46972.1 0.02 7.277223 ACAxGGC COVERED NOVEL VPS8-002 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000345396.2 3 6.620576 KEEP 0 0 0 22 713 TT 0.999879 0.999879 0 + 9 60 298 0 0 17.497674 228 60 8388 283 ENST00000436792.2 0.037975 1 C3orf70 285382 __UNKNOWN__ __UNKNOWN__ 3 184798097 184798097 __UNKNOWN__ 3'UTR SNP G G A rs113805911 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:184798097G>A ENST00000335012.2 - 0 3641 NM_001025266.1 NP_001020437.1 A6NLC5 CC070_HUMAN chromosome 3 open reading frame 70 NA NA breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1) 13 TTAAAATTGTGTCTAATCAGA 0.373 NA G||| 241 0.048123 0.0363 0.0159 5008 , , NA 18717 0.0972 NA 0.0129 False NA ,,, NA NA NA 2504 0.0726 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS33900.1 3q27 2008-08-08 ENSG00000187068 ENSG00000187068 285382 33731 protein-coding gene gene with protein product NA Standard NM_001025266 NM_001025266 NA Approved uc003fpd.3 A6NLC5 OTTHUMG00000156696 ENST00000335012.2:c.*2698C>T chr3.hg19:g.184798097G>A NA B2RNY2|B9EH83 hg19 CCDS33900.1 0.02 8.703944 TGTxTCT COVERED NOVEL C3orf70-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000345323.1 0 16.251791 KEEP 0 0 0 54 1879 GG 1 1 0 - 9 60 335 0 0 21.442894 213 60 8066 325 ENST00000335012.2 0.040541 1 MAP3K13 9175 __UNKNOWN__ __UNKNOWN__ 3 185183541 185183541 __UNKNOWN__ Silent SNP G G A rs56098590 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:185183541G>A ENST00000265026.3 + 9 1729 c.1395G>A c.(1393-1395)gcG>gcA p.A465A MAP3K13_ENST00000424227.1_Silent_p.A465A|MAP3K13_ENST00000535426.1_Silent_p.A321A|MAP3K13_ENST00000443863.1_Silent_p.A321A|MAP3K13_ENST00000446828.1_Silent_p.A258A NM_004721.4 NP_004712.1 mitogen-activated protein kinase kinase kinase 13 NA NA NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 all_cancers(143;7.21e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) ACAGGCATGCGCTGGATATTC 0.463 NA G||| 48 0.00958466 0.0 0.0216 5008 , , NA 18376 0.0327 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 G ,, 1,4405 2.1+/-5.4 0,1,2202 134 140 138 1395,774,1395 -4.4 0.9 3 dbSNP_129 138 3,8597 3.0+/-9.4 0,3,4297 no coding-synonymous,coding-synonymous,coding-synonymous MAP3K13 NM_001242314.1,NM_001242317.1,NM_004721.4 ,, 0,4,6499 AA,AG,GG 0.0349,0.0227,0.0308 ,, 465/967,258/760,465/967 185183541 4,13002 2203 4300 6503 SO:0001819 synonymous_variant BC031677 CCDS3270.1, CCDS56298.1 3q27 2011-06-09 ENSG00000073803 ENSG00000073803 9175 Mitogen-activated protein kinase cascade / Kinase kinase kinases 6852 protein-coding gene gene with protein product leucine zipper-bearing kinase 604915 NA 9353328 Standard NM_004721 NM_004721 NA Approved LZK, MEKK13 uc003fpi.3 O43283 OTTHUMG00000156673 ENST00000265026.3:c.1395G>A chr3.hg19:g.185183541G>A NA hg19 CCDS3270.1 0.02 19.614288 TGCxCTG COVERED NOVEL MAP3K13-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000345268.1 3 16.853359 KEEP 0 0 0 56 1918 GG 1 1 0 + 24 60 850 0 0 54.686962 475 60 16236 676 ENST00000265026.3 0.048096 1 MAP3K13 9175 __UNKNOWN__ __UNKNOWN__ 3 185201338 185201338 __UNKNOWN__ 3'UTR SNP C C T rs13091808 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:185201338C>T ENST00000265026.3 + 0 4329 TMEM41A_ENST00000475480.1_Intron NM_004721.4 NP_004712.1 mitogen-activated protein kinase kinase kinase 13 NA NA NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 all_cancers(143;7.21e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GAAGATGGAACCACCCCTCTC 0.443 NA T||| 1073 0.214257 0.1687 0.1744 5008 , , NA 17976 0.37 NA 0.0885 False NA ,,, NA NA NA 2504 0.273 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC031677 CCDS3270.1, CCDS56298.1 3q27 2011-06-09 ENSG00000073803 ENSG00000073803 9175 Mitogen-activated protein kinase cascade / Kinase kinase kinases 6852 protein-coding gene gene with protein product leucine zipper-bearing kinase 604915 NA 9353328 Standard NM_004721 NM_004721 NA Approved LZK, MEKK13 uc003fpi.3 O43283 OTTHUMG00000156673 ENST00000265026.3:c.*1094C>T chr3.hg19:g.185201338C>T NA hg19 CCDS3270.1 0.02 4.266843 GAAxCAC COVERED NOVEL MAP3K13-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000345268.1 3 12.34016 KEEP 0 0 0 41 1464 CC 1 0.999997 0 + 7 60 257 0 0 17.588461 108 60 3974 196 ENST00000265026.3 0.06087 0.999997 MAP3K13 9175 __UNKNOWN__ __UNKNOWN__ 3 185204856 185204856 __UNKNOWN__ 3'UTR SNP T T A rs11917456 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:185204856T>A ENST00000265026.3 + 0 7847 TMEM41A_ENST00000475480.1_Intron NM_004721.4 NP_004712.1 mitogen-activated protein kinase kinase kinase 13 NA NA NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 all_cancers(143;7.21e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GTACTGGACATCTCCTGTAGA 0.353 NA T||| 985 0.196685 0.1165 0.1758 5008 , , NA 19227 0.37 NA 0.0885 False NA ,,, NA NA NA 2504 0.2526 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC031677 CCDS3270.1, CCDS56298.1 3q27 2011-06-09 ENSG00000073803 ENSG00000073803 9175 Mitogen-activated protein kinase cascade / Kinase kinase kinases 6852 protein-coding gene gene with protein product leucine zipper-bearing kinase 604915 NA 9353328 Standard NM_004721 NM_004721 NA Approved LZK, MEKK13 uc003fpi.3 O43283 OTTHUMG00000156673 ENST00000265026.3:c.*4612T>A chr3.hg19:g.185204856T>A NA hg19 CCDS3270.1 0.02 3.683715 ACAxCTC COVERED NOVEL MAP3K13-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000345268.1 3 6.017124 KEEP 0 0 0 20 614 TT 0.999863 0.999863 0 + 6 60 214 0 0 13.607375 129 60 4734 185 ENST00000265026.3 0.044444 1 LIPH 200879 __UNKNOWN__ __UNKNOWN__ 3 185270397 185270397 __UNKNOWN__ 5'UTR SNP G G A rs79952553 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:185270397G>A ENST00000296252.4 - 0 4 NM_139248.2 NP_640341.1 Q8WWY8 LIPH_HUMAN lipase, member H NA NA lipid catabolic process (GO:0016042) extracellular space (GO:0005615)|plasma membrane (GO:0005886) heparin binding (GO:0008201)|phospholipase activity (GO:0004620) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2) 20 all_cancers(143;8.87e-11)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;1.31e-21) AGTTCCCTAGGGACTGACTGC 0.448 NA G||| 479 0.095647 0.0106 0.0605 5008 , , NA 19824 0.246 NA 0.0368 False NA ,,, NA NA NA 2504 0.1411 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AY093498 CCDS3272.1 3q27 2012-07-31 ENSG00000163898 ENSG00000163898 200879 18483 protein-coding gene gene with protein product 607365 NA 12213196, 12063250 Standard XM_006713529 NA Approved mPA-PLA1, PLA1B, mPA-PLA1alpha, LPDLR uc003fpm.3 Q8WWY8 OTTHUMG00000156657 ENST00000296252.4:c.-138C>T chr3.hg19:g.185270397G>A NA A2IBA7|Q8TEC7 hg19 CCDS3272.1 0.02 16.268827 TAGxGAC COVERED NOVEL LIPH-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000345153.1 2 14.7482 KEEP 0 0 0 49 1748 GG 1 1 0 - 20 60 721 0 0 47.928622 350 60 12804 498 ENST00000296252.4 0.054054 1 SENP2 59343 __UNKNOWN__ __UNKNOWN__ 3 185344022 185344022 __UNKNOWN__ Intron SNP C C T rs76350357 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:185344022C>T ENST00000296257.5 + 16 1851 SENP2_ENST00000427465.2_Intron|SENP2_ENST00000545472.1_Intron NM_021627.2 NP_067640.2 Q9HC62 SENP2_HUMAN SUMO1/sentrin/SMT3 specific peptidase 2 NA NA cellular protein metabolic process (GO:0044267)|dorsal/ventral axis specification (GO:0009950)|heart development (GO:0007507)|labyrinthine layer development (GO:0060711)|mRNA transport (GO:0051028)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein binding (GO:0032091)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|protein transport (GO:0015031)|regulation of DNA endoreduplication (GO:0032875)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of Wnt signaling pathway (GO:0030111)|spongiotrophoblast layer development (GO:0060712)|trophoblast giant cell differentiation (GO:0060707)|Wnt signaling pathway (GO:0016055) cytoplasmic vesicle (GO:0031410)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|PML body (GO:0016605) SUMO-specific protease activity (GO:0016929) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3) 12 all_cancers(143;1.28e-10)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;1.31e-21) TAGAAAAAGTCCAAGGAATTT 0.284 NA C||| 46 0.0091853 0.0 0.0086 5008 , , NA 18915 0.0397 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF151697 CCDS33902.1 3q28 2005-08-17 2005-08-17 ENSG00000163904 ENSG00000163904 59343 23116 protein-coding gene gene with protein product 608261 SUMO1/sentrin/SMT3 specific protease 2 NA 11896061, 11489887 Standard NM_021627 XM_005247690 NA Approved SMT3IP2, KIAA1331, DKFZp762A2316, AXAM2 uc003fpn.3 Q9HC62 OTTHUMG00000156658 ENST00000296257.5:c.1612-64C>T chr3.hg19:g.185344022C>T NA B4DQ42|Q8IW97|Q96SR2|Q9P2L5 hg19 CCDS33902.1 0.02 3.948045 AGTxCAA COVERED NOVEL SENP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000345159.1 1 3.009326 KEEP 0 0 0 10 327 CC 0.992708 0.992708 0 + 6 60 221 0 0 14.210155 134 60 4901 151 ENST00000296257.5 0.042857 1 TBCCD1 55171 __UNKNOWN__ __UNKNOWN__ 3 186287980 186287980 __UNKNOWN__ 5'UTR SNP T T C rs12330397 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:186287980T>C ENST00000446782.1 - 0 127 DNAJB11_ENST00000439351.1_5'UTR|TBCCD1_ENST00000424280.1_5'UTR Q9NVR7 TBCC1_HUMAN TBCC domain containing 1 NA NA cell morphogenesis (GO:0000902)|cytoskeleton organization (GO:0007010)|maintenance of centrosome location (GO:0051661)|maintenance of Golgi location (GO:0051684)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360) cytoplasm (GO:0005737)|spindle pole centrosome (GO:0031616) breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1) 17 all_cancers(143;3.75e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;4.3e-21) GBM - Glioblastoma multiforme(93;0.0474) CTTATGGAGTTGCTTGGAGAA 0.522 NA T||| 1506 0.300719 0.562 0.2392 5008 , , NA 19196 0.1478 NA 0.1879 False NA ,,, NA NA NA 2504 0.2648 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant BC025748 CCDS3276.1, CCDS75061.1 3q27.3 2006-03-09 ENSG00000113838 ENSG00000113838 55171 25546 protein-coding gene gene with protein product NA 12477932 Standard NM_018138 NM_001134415 NA Approved FLJ10560 uc003fqg.3 Q9NVR7 OTTHUMG00000156613 ENST00000446782.1:c.-37A>G chr3.hg19:g.186287980T>C NA B3KW69|D3DNU6|G5E9J4 hg19 0.02 30.575779 AGTxGCT COVERED NOVEL TBCCD1-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000344775.1 3 97.791721 KEEP 0 0 0 325 10137 TT 1 1 0 - 58 60 2000 0 0 142.626292 598 60 21909 1290 ENST00000446782.1 0.088415 1 TBCCD1 55171 __UNKNOWN__ __UNKNOWN__ 3 186288172 186288172 __UNKNOWN__ 5'UTR SNP G G C rs3806712 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:186288172G>C ENST00000424280.1 - 0 160 DNAJB11_ENST00000439351.1_5'UTR NM_001134415.1 NP_001127887.1 Q9NVR7 TBCC1_HUMAN TBCC domain containing 1 NA NA cell morphogenesis (GO:0000902)|cytoskeleton organization (GO:0007010)|maintenance of centrosome location (GO:0051661)|maintenance of Golgi location (GO:0051684)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360) cytoplasm (GO:0005737)|spindle pole centrosome (GO:0031616) breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1) 17 all_cancers(143;3.75e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;4.3e-21) GBM - Glioblastoma multiforme(93;0.0474) TGGGGAGGAAGCTCCTGATTG 0.532 NA C||| 1508 0.301118 0.562 0.2378 5008 , , NA 17527 0.1478 NA 0.1889 False NA ,,, NA NA NA 2504 0.2669 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant BC025748 CCDS3276.1, CCDS75061.1 3q27.3 2006-03-09 ENSG00000113838 ENSG00000113838 55171 25546 protein-coding gene gene with protein product NA 12477932 Standard NM_018138 NM_001134415 NA Approved FLJ10560 uc003fqg.3 Q9NVR7 OTTHUMG00000156613 ENST00000424280.1:c.-320C>G chr3.hg19:g.186288172G>C NA B3KW69|D3DNU6|G5E9J4 hg19 CCDS3276.1 0.02 7.116571 GAAxCTC COVERED NOVEL TBCCD1-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000344774.1 4 24.374736 KEEP 0 0 0 81 2913 GG 1 1 0 - 18 60 666 0 0 48.958317 181 60 6744 341 ENST00000424280.1 0.090452 1 DNAJB11 51726 __UNKNOWN__ __UNKNOWN__ 3 186288810 186288810 __UNKNOWN__ Intron SNP G G A rs3733160 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:186288810G>A ENST00000439351.1 + 2 997 DNAJB11_ENST00000265028.3_Intron Q9UBS4 DJB11_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 11 NA NA activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|mRNA modification (GO:0016556)|protein folding (GO:0006457) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)|nucleus (GO:0005634) breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2) 15 all_cancers(143;2.84e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.44e-20) GBM - Glioblastoma multiforme(93;0.0476) TTGCTGGGGGGTGGGAGGGGG 0.642 NA G||| 1289 0.257388 0.4607 0.2017 5008 , , NA 12134 0.1478 NA 0.1441 False NA ,,, NA NA NA 2504 0.2515 NA NA NA NA 0 G 552,832 108,336,248 27 22 23 3 0 3 dbSNP_107 23 418,2764 30,358,1203 no intron DNAJB11 NM_016306.4 138,694,1451 AA,AG,GG 13.1364,39.8844,21.244 186288810 970,3596 692 1591 2283 SO:0001627 intron_variant AB028859 CCDS3277.1 3q27 2011-09-02 ENSG00000090520 ENSG00000090520 51726 Heat shock proteins / DNAJ (HSP40) 14889 protein-coding gene gene with protein product 611341 NA 10827079, 11147971 Standard NM_016306 NA Approved EDJ, HEDJ, ERdj3 uc003fqi.3 Q9UBS4 OTTHUMG00000156614 ENST00000439351.1:c.68+56G>A chr3.hg19:g.186288810G>A NA Q542Y5|Q542Y9|Q6IAQ8|Q96JC6 hg19 CCDS3277.1 0.02 4.623046 GGGxTGG COVERED NOVEL DNAJB11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000344779.1 1 15.026928 KEEP 0 0 0 50 1571 GG 1 0.999992 0 + 12 60 410 0 0 30.342613 97 60 3085 182 ENST00000439351.1 0.110092 0.999992 DNAJB11 51726 __UNKNOWN__ __UNKNOWN__ 3 186293588 186293588 __UNKNOWN__ Intron SNP A A G rs2280391 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:186293588A>G ENST00000439351.1 + 4 1154 DNAJB11_ENST00000265028.3_Intron Q9UBS4 DJB11_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 11 NA NA activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|mRNA modification (GO:0016556)|protein folding (GO:0006457) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)|nucleus (GO:0005634) breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2) 15 all_cancers(143;2.84e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.44e-20) GBM - Glioblastoma multiforme(93;0.0476) ACTGGATATTACCAACTCATG 0.348 NA A||| 1481 0.295727 0.5461 0.2378 5008 , , NA 19908 0.1478 NA 0.1859 False NA ,,, NA NA NA 2504 0.2638 NA NA NA NA 0 A 2043,2363 564.8+/-381.5 471,1101,631 68 63 65 -4.5 0 3 dbSNP_100 65 1448,7152 277.2+/-292.7 113,1222,2965 no intron DNAJB11 NM_016306.4 584,2323,3596 GG,GA,AA 16.8372,46.3686,26.8415 186293588 3491,9515 2203 4300 6503 SO:0001627 intron_variant AB028859 CCDS3277.1 3q27 2011-09-02 ENSG00000090520 ENSG00000090520 51726 Heat shock proteins / DNAJ (HSP40) 14889 protein-coding gene gene with protein product 611341 NA 10827079, 11147971 Standard NM_016306 NA Approved EDJ, HEDJ, ERdj3 uc003fqi.3 Q9UBS4 OTTHUMG00000156614 ENST00000439351.1:c.226-41A>G chr3.hg19:g.186293588A>G NA Q542Y5|Q542Y9|Q6IAQ8|Q96JC6 hg19 CCDS3277.1 0.02 9.502631 ATTxCCA COVERED NOVEL DNAJB11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000344779.1 1 12.639003 KEEP 0 0 0 42 1351 AA 1 1 0 + 18 60 689 0 0 50.362773 204 60 7207 313 ENST00000439351.1 0.081081 1 DNAJB11 51726 __UNKNOWN__ __UNKNOWN__ 3 186299107 186299107 __UNKNOWN__ Intron SNP G G A rs11921733 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:186299107G>A ENST00000439351.1 + 6 1385 DNAJB11_ENST00000265028.3_Intron Q9UBS4 DJB11_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 11 NA NA activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|mRNA modification (GO:0016556)|protein folding (GO:0006457) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)|nucleus (GO:0005634) breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2) 15 all_cancers(143;2.84e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.44e-20) GBM - Glioblastoma multiforme(93;0.0476) ATTGAGGAAAGGAAAGGCTGT 0.453 NA G||| 898 0.179313 0.2526 0.1614 5008 , , NA 20495 0.1498 NA 0.0984 False NA ,,, NA NA NA 2504 0.2065 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB028859 CCDS3277.1 3q27 2011-09-02 ENSG00000090520 ENSG00000090520 51726 Heat shock proteins / DNAJ (HSP40) 14889 protein-coding gene gene with protein product 611341 NA 10827079, 11147971 Standard NM_016306 NA Approved EDJ, HEDJ, ERdj3 uc003fqi.3 Q9UBS4 OTTHUMG00000156614 ENST00000439351.1:c.457-53G>A chr3.hg19:g.186299107G>A NA Q542Y5|Q542Y9|Q6IAQ8|Q96JC6 hg19 CCDS3277.1 0.02 2.035256 AAAxGAA COVERED NOVEL DNAJB11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000344779.1 2 4.213835 KEEP 0 0 0 14 503 GG 0.995343 0.987474 0 + 4 60 144 0 0 9.840531 59 60 2259 88 ENST00000439351.1 0.063492 0.992094 DNAJB11 51726 __UNKNOWN__ __UNKNOWN__ 3 186299905 186299905 __UNKNOWN__ Intron SNP T T C rs6784026 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:186299905T>C ENST00000439351.1 + 7 1611 DNAJB11_ENST00000265028.3_Intron Q9UBS4 DJB11_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 11 NA NA activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|mRNA modification (GO:0016556)|protein folding (GO:0006457) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)|nucleus (GO:0005634) breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2) 15 all_cancers(143;2.84e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.44e-20) GBM - Glioblastoma multiforme(93;0.0476) TGTGATAACTTTTTGCTCTCT 0.398 NA T||| 1499 0.299321 0.5567 0.2392 5008 , , NA 18514 0.1498 NA 0.1859 False NA ,,, NA NA NA 2504 0.2648 NA NA NA NA 0 T 2049,2357 532.8+/-373.5 482,1085,636 74 80 78 0.3 0 3 dbSNP_116 78 1431,7169 244.0+/-273.4 114,1203,2983 no intron DNAJB11 NM_016306.4 596,2288,3619 CC,CT,TT 16.6395,46.5048,26.7569 186299905 3480,9526 2203 4300 6503 SO:0001627 intron_variant AB028859 CCDS3277.1 3q27 2011-09-02 ENSG00000090520 ENSG00000090520 51726 Heat shock proteins / DNAJ (HSP40) 14889 protein-coding gene gene with protein product 611341 NA 10827079, 11147971 Standard NM_016306 NA Approved EDJ, HEDJ, ERdj3 uc003fqi.3 Q9UBS4 OTTHUMG00000156614 ENST00000439351.1:c.682+39T>C chr3.hg19:g.186299905T>C NA Q542Y5|Q542Y9|Q6IAQ8|Q96JC6 hg19 CCDS3277.1 0.02 5.049153 ACTxTTT COVERED NOVEL DNAJB11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000344779.1 1 6.017885 KEEP 0 0 0 20 629 TT 0.999863 0.99986 0 + 12 60 457 0 0 34.638055 105 60 3764 159 ENST00000439351.1 0.102564 0.999998 DNAJB11 51726 __UNKNOWN__ __UNKNOWN__ 3 186301703 186301703 __UNKNOWN__ Missense_Mutation SNP A A G rs8147 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:186301703A>G ENST00000439351.1 + 9 1719 c.790A>G c.(790-792)Atc>Gtc p.I264V DNAJB11_ENST00000265028.3_Missense_Mutation_p.I264V Q9UBS4 DJB11_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 11 264 NA I -> V (in dbSNP:rs8147). {ECO:0000269|PubMed:16303743, ECO:0000269|Ref.4}. activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|mRNA modification (GO:0016556)|protein folding (GO:0006457) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)|nucleus (GO:0005634) breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2) 15 all_cancers(143;2.84e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.44e-20) GBM - Glioblastoma multiforme(93;0.0476) AAATGTGACAATCTCATTAGT 0.348 NA A||| 1484 0.296326 0.5461 0.2378 5008 , , NA 22257 0.1498 NA 0.1859 False NA ,,, NA NA NA 2504 0.2648 NA NA NA NA 0 A VAL/ILE 2043,2363 566.3+/-381.9 471,1101,631 190 170 177 790 -0.8 0.2 3 dbSNP_52 177 1448,7152 277.6+/-293.0 113,1222,2965 yes missense DNAJB11 NM_016306.4 29 584,2323,3596 GG,GA,AA 16.8372,46.3686,26.8415 possibly-damaging 264/359 186301703 3491,9515 2203 4300 6503 SO:0001583 missense AB028859 CCDS3277.1 3q27 2011-09-02 ENSG00000090520 ENSG00000090520 51726 Heat shock proteins / DNAJ (HSP40) 14889 protein-coding gene gene with protein product 611341 NA 10827079, 11147971 Standard NM_016306 NA Approved EDJ, HEDJ, ERdj3 uc003fqi.3 Q9UBS4 OTTHUMG00000156614 ENST00000439351.1:c.790A>G chr3.hg19:g.186301703A>G ENSP00000414398:p.Ile264Val NA Q542Y5|Q542Y9|Q6IAQ8|Q96JC6 hg19 CCDS3277.1 0.02 15.290239 ACAxTCT COVERED 578|578 0.26465201465201466|0.26465201465201466 257|257 0.5223577235772358|0.5223577235772358 101|101 0.27900552486187846|0.27900552486187846 82|82 0.14335664335664336|0.14335664335664336 138|138 0.1820580474934037|0.1820580474934037 A|A 16.71|16.71 3.199267|3.199267 0.58126|0.58126 0.463686|0.463686 0.168372|0.168372 ENSG00000090520|ENSG00000090520 ENST00000439351;ENST00000265028|ENST00000418776 T;T|. 0.53640|. 0.61;0.61|. 5.79|5.79 -0.818|-0.818 0.10833|0.10833 Chaperone DnaJ, C-terminal (1);HSP40/DnaJ peptide-binding (1);|. 0.192343|. 0.56097|. N|. 0.000040|. T|T 0.00012|0.00012 0.0000|0.0000 M|M 0.78285|0.78285 2.405|2.405 0.09310|0.09310 P|P 1.0|1.0 P|. 0.48589|. 0.912|. P|. 0.51297|. 0.665|. T|T 0.45862|0.45862 -0.9232|-0.9232 9|4 0.54805|. T|. 0.06|. -1.9249|-1.9249 9.7291|9.7291 0.40350|0.40350 0.583:0.0:0.417:0.0|0.583:0.0:0.417:0.0 rs8147;rs3193237;rs52831972;rs59580631;rs8147|rs8147;rs3193237;rs52831972;rs59580631;rs8147 264|. Q9UBS4|. DJB11_HUMAN|. V|S 264|64 ENSP00000414398:I264V;ENSP00000265028:I264V|. ENSP00000265028:I264V|. I|N +|+ 1|2 0|0 DNAJB11|DNAJB11 187784397|187784397 0.978000|0.978000 0.34361|0.34361 0.220000|0.220000 0.23810|0.23810 0.973000|0.973000 0.67179|0.67179 2.653000|2.653000 0.46691|0.46691 -0.361000|-0.361000 0.08125|0.08125 -0.256000|-0.256000 0.11100|0.11100 ATC|AAT NOVEL DNAJB11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000344779.1 0 17.451685 KEEP 0 0 0 58 1840 AA 1 1 0 + 19 60 752 0 0 52.888508 304 60 11137 482 ENST00000439351.1 0.058824 1 DNAJB11 51726 __UNKNOWN__ __UNKNOWN__ 3 186301840 186301840 __UNKNOWN__ Intron SNP T T G rs13326516 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:186301840T>G ENST00000439351.1 + 9 1781 DNAJB11_ENST00000265028.3_Intron Q9UBS4 DJB11_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 11 NA NA activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|mRNA modification (GO:0016556)|protein folding (GO:0006457) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)|nucleus (GO:0005634) breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2) 15 all_cancers(143;2.84e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.44e-20) GBM - Glioblastoma multiforme(93;0.0476) TATCAGCTGTTTCAGTCATTG 0.423 NA T||| 1491 0.297724 0.5507 0.2378 5008 , , NA 21988 0.1498 NA 0.1869 False NA ,,, NA NA NA 2504 0.2648 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB028859 CCDS3277.1 3q27 2011-09-02 ENSG00000090520 ENSG00000090520 51726 Heat shock proteins / DNAJ (HSP40) 14889 protein-coding gene gene with protein product 611341 NA 10827079, 11147971 Standard NM_016306 NA Approved EDJ, HEDJ, ERdj3 uc003fqi.3 Q9UBS4 OTTHUMG00000156614 ENST00000439351.1:c.852+75T>G chr3.hg19:g.186301840T>G NA Q542Y5|Q542Y9|Q6IAQ8|Q96JC6 hg19 CCDS3277.1 0.02 6.480878 TGTxTCA COVERED NOVEL DNAJB11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000344779.1 0 8.425682 KEEP 0 0 0 28 904 TT 0.999997 0.999997 0 + 9 60 324 0 0 21.440592 160 60 5749 222 ENST00000439351.1 0.053254 1 AHSG 197 __UNKNOWN__ __UNKNOWN__ 3 186330969 186330969 __UNKNOWN__ Silent SNP C C G rs4831 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:186330969C>G ENST00000273784.5 + 1 115 c.39C>G c.(37-39)ctC>ctG p.L13L AHSG_ENST00000411641.2_Silent_p.L13L NM_001622.2 NP_001613.2 P02765 FETUA_HUMAN alpha-2-HS-glycoprotein 13 NA acute-phase response (GO:0006953)|negative regulation of bone mineralization (GO:0030502)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|ossification (GO:0001503)|pinocytosis (GO:0006907)|positive regulation of phagocytosis (GO:0050766)|regulation of bone mineralization (GO:0030500)|regulation of inflammatory response (GO:0050727)|skeletal system development (GO:0001501) blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) cysteine-type endopeptidase inhibitor activity (GO:0004869)|kinase inhibitor activity (GO:0019210) p.L13L(1) central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1) 22 all_cancers(143;3.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.27e-20) GBM - Glioblastoma multiforme(93;0.0463) TTGCTCAGCTCTGGGGCTGCC 0.597 NA .||| 1089 0.217452 0.3797 0.1542 5008 , , NA 16331 0.126 NA 0.1581 False NA ,,, NA NA NA 2504 0.1984 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) C 1418,2988 459.0+/-352.1 221,976,1006 39 41 40 39 2.9 1 3 dbSNP_52 40 1266,7334 251.1+/-277.7 96,1074,3130 no coding-synonymous AHSG NM_001622.2 317,2050,4136 GG,GC,CC 14.7209,32.1834,20.6366 13/368 186330969 2684,10322 2203 4300 6503 SO:0001819 synonymous_variant D67013, M16961 CCDS3278.1 3q27.3 2006-02-22 ENSG00000145192 ENSG00000145192 197 349 protein-coding gene gene with protein product 138680 NA 9322749, 7736783 Standard NM_001622 NM_001622 NA Approved FETUA, A2HS, HSGA uc003fqk.4 P02765 OTTHUMG00000156605 ENST00000273784.5:c.39C>G chr3.hg19:g.186330969C>G NA A8K9N6|B2R7G1|O14961|O14962|Q9P152 hg19 0.02 26.013203 GCTxTGG COVERED NOVEL AHSG-002 NOVEL basic|appris_candidate_longest|exp_conf protein_coding NA protein_coding OTTHUMT00000344762.1 5 21.659646 KEEP 0 0 0 72 2515 CC 1 1 0 + 23 60 867 0 0 56.189268 530 60 19786 762 ENST00000273784.5 0.041591 1 FETUB 26998 __UNKNOWN__ __UNKNOWN__ 3 186363728 186363728 __UNKNOWN__ Intron SNP A A C rs6808434 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:186363728A>C ENST00000382134.3 + 3 500 FETUB_ENST00000382136.3_Intron|FETUB_ENST00000450521.1_Intron|FETUB_ENST00000265029.3_Intron|RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000539949.1_Intron|RP11-134F2.2_ENST00000455926.1_RNA Q9UGM5 FETUB_HUMAN fetuin B NA NA binding of sperm to zona pellucida (GO:0007339)|negative regulation of endopeptidase activity (GO:0010951)|single fertilization (GO:0007338) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191) endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1) 20 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0479) gttggccaggatggtcttgat 0.537 NA A||| 1594 0.318291 0.2746 0.3055 5008 , , NA 14190 0.3968 NA 0.2803 False NA ,,, NA NA NA 2504 0.3446 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ242928 CCDS3279.1 3q27.3 2008-05-15 ENSG00000090512 ENSG00000090512 26998 3658 protein-coding gene gene with protein product 605954 NA 10947975 Standard NM_014375 XM_005247350 NA Approved uc003fqn.3 Q9UGM5 OTTHUMG00000156586 ENST00000382134.3:c.400-309A>C chr3.hg19:g.186363728A>C NA B2RCW6|E9PG06|Q1RMZ0|Q5J876|Q6DK58|Q6GRB6|Q9Y6Z0 hg19 0.02 -0.070172 AGGxTGG UNCOVERED NOVEL FETUB-004 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000344682.1 3 2.983027 KEEP 2 0 0 10 298 AA 0.99257 0.053735 0 + 3 60 118 0 0 10.9333 5 60 169 27 ENST00000382134.3 0.375 0.054137 KNG1 3827 __UNKNOWN__ __UNKNOWN__ 3 186449421 186449421 __UNKNOWN__ Intron SNP A A G rs150340694 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:186449421A>G ENST00000265023.4 + 6 969 RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000287611.2_Intron|KNG1_ENST00000447445.1_Intron NM_001102416.2 NP_001095886.1 P01042 KNG1_HUMAN kininogen 1 NA NA blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|inflammatory response (GO:0006954)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|smooth muscle contraction (GO:0006939)|vasodilation (GO:0042311) blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093) cysteine-type endopeptidase inhibitor activity (GO:0004869)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270) endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2) 21 all_cancers(143;8.96e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;4.12e-20) GBM - Glioblastoma multiforme(93;0.0798) TTATCCAGGTAAGGAATAACA 0.413 NA A||| 2 0.000399361 0.0 0.0 5008 , , NA 21733 0.002 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 92 77 82 NA NA 3 NA 186449421 2203 4300 6503 SO:0001627 intron_variant CCDS3281.1, CCDS43183.1, CCDS54695.1 3q27.3 2014-05-15 2004-05-21 2004-05-26 ENSG00000113889 ENSG00000113889 3827 Endogenous ligands 6383 protein-coding gene gene with protein product alpha-2-thiol proteinase inhibitor, bradykinin 612358 kininogen KNG, BDK NA 1733668 Standard NM_001102416 NM_000893 NA Approved BK uc011bsa.2 P01042 OTTHUMG00000150348 ENST00000265023.4:c.757+3A>G chr3.hg19:g.186449421A>G NA A8K474|B2RCR2|C9JEX1|P01043|Q53EQ0|Q6PAU9|Q7M4P1 hg19 CCDS43183.1 0.02 16.638504 GGTxAGG COVERED NOVEL KNG1-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000317738.1 4 13.83648 KEEP 0 0 0 46 1367 AA 1 1 0 + 12 60 475 0 0 29.891692 383 60 13755 553 ENST00000265023.4 0.03038 1 EIF4A2 1974 __UNKNOWN__ __UNKNOWN__ 3 186501381 186501381 __UNKNOWN__ 5'UTR SNP C C G rs78779088 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:186501381C>G ENST00000323963.5 + 0 46 EIF4A2_ENST00000440191.2_5'UTR|RP11-573D15.9_ENST00000577781.1_RNA Q14240 IF4A2_HUMAN eukaryotic translation initiation factor 4A2 NA NA cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032) cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281) ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743) breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1) 28 all_cancers(143;2.68e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.07e-20) GBM - Glioblastoma multiforme(93;0.0704) CAGTCGGGCGCTGAGTGGTTT 0.572 NA T BCL6 NHL C||| 8 0.00159744 0.0 0.0 5008 , , NA 13847 0.0069 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA Dom yes 3 3q27.3 1974 eukaryotic translation initiation factor 4A, isoform 2 L 0 112 114 113 NA NA 3 NA 186501381 2203 4300 6503 SO:0001623 5_prime_UTR_variant D30655 CCDS3282.1 3q28 2012-02-23 2010-02-10 ENSG00000156976 ENSG00000156976 1974 3.6.1.1 DEAD-boxes 3284 protein-coding gene gene with protein product 601102 eukaryotic translation initiation factor 4A, isoform 2 EIF4F NA 8521730 Standard NM_001967 NM_001967 NA Approved DDX2B, EIF4A, BM-010 uc003fqs.3 Q14240 OTTHUMG00000156564 ENST00000323963.5:c.-19C>G chr3.hg19:g.186501381C>G NA D3DNU9|Q53XJ6|Q96B90|Q96EA8 hg19 CCDS3282.1 0.02 6.778215 GCGxTGA COVERED NOVEL EIF4A2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000344609.1 1 36.71695 KEEP 0 0 0 122 4278 CC 1 1 0 + 14 60 514 0 0 36.312146 178 60 6703 380 ENST00000323963.5 0.072917 1 EIF4A2 1974 __UNKNOWN__ __UNKNOWN__ 3 186505706 186505706 __UNKNOWN__ Intron SNP A A C rs12630327 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:186505706A>C ENST00000323963.5 + 10 1143 EIF4A2_ENST00000356531.5_Intron|EIF4A2_ENST00000440191.2_Intron Q14240 IF4A2_HUMAN eukaryotic translation initiation factor 4A2 NA NA cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032) cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281) ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743) breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1) 28 all_cancers(143;2.68e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.07e-20) GBM - Glioblastoma multiforme(93;0.0704) ATTGAAAAAAATTCATACGTT 0.323 NA T BCL6 NHL A||| 573 0.114417 0.0817 0.0793 5008 , , NA 20034 0.1429 NA 0.1332 False NA ,,, NA NA NA 2504 0.135 NA NA NA Dom yes 3 3q27.3 1974 eukaryotic translation initiation factor 4A, isoform 2 L 0 A 365,4037 17,331,1853 38 39 39 2.5 0 3 dbSNP_120 39 1161,7433 91,979,3227 no intron EIF4A2 NM_001967.3 108,1310,5080 CC,CA,AA 13.5094,8.2917,11.7421 186505706 1526,11470 2201 4297 6498 SO:0001627 intron_variant D30655 CCDS3282.1 3q28 2012-02-23 2010-02-10 ENSG00000156976 ENSG00000156976 1974 3.6.1.1 DEAD-boxes 3284 protein-coding gene gene with protein product 601102 eukaryotic translation initiation factor 4A, isoform 2 EIF4F NA 8521730 Standard NM_001967 NM_001967 NA Approved DDX2B, EIF4A, BM-010 uc003fqs.3 Q14240 OTTHUMG00000156564 ENST00000323963.5:c.1079+35A>C chr3.hg19:g.186505706A>C NA D3DNU9|Q53XJ6|Q96B90|Q96EA8 hg19 CCDS3282.1 0.02 12.31586 AAAxTTC COVERED NOVEL EIF4A2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000344609.1 3 22.262804 KEEP 0 0 0 74 2253 AA 1 1 0 + 22 60 857 0 0 62.872618 254 60 9418 389 ENST00000323963.5 0.07971 1 RFC4 5984 __UNKNOWN__ __UNKNOWN__ 3 186507757 186507757 __UNKNOWN__ 3'UTR SNP G G A rs1047148 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:186507757G>A ENST00000392481.2 - 0 1374 RFC4_ENST00000433496.1_3'UTR|RFC4_ENST00000296273.2_3'UTR NM_181573.2 NP_853551.1 P35249 RFC4_HUMAN replication factor C (activator 1) 4, 37kDa NA NA DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283) DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654) ATP binding (GO:0005524)|DNA binding (GO:0003677) breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 all_cancers(143;2.92e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) GBM - Glioblastoma multiforme(93;0.0739) ATATATTCACGTTAACAATTC 0.343 NA G||| 465 0.0928514 0.0076 0.0677 5008 , , NA 17838 0.1429 NA 0.1312 False NA ,,, NA NA NA 2504 0.135 NA NA NA NA 0 G , 135,4271 95.7+/-134.4 0,135,2068 67 62 64 , -9 0 3 dbSNP_86 64 1173,7427 237.9+/-269.6 88,997,3215 no utr-3,utr-3 RFC4 NM_002916.3,NM_181573.2 , 88,1132,5283 AA,AG,GG 13.6395,3.064,10.0569 , , 186507757 1308,11698 2203 4300 6503 SO:0001624 3_prime_UTR_variant CCDS3283.1 3q27 2010-04-21 2002-08-29 ENSG00000163918 ENSG00000163918 5984 ATPases / AAA-type 9972 protein-coding gene gene with protein product A1 37 kDa subunit, activator 1 37 kDa subunit, RFC 37 kDa subunit 102577 replication factor C (activator 1) 4 (37kD) NA 7774928 Standard NM_002916 NM_181573 NA Approved A1, RFC37 uc003fqz.3 P35249 OTTHUMG00000156515 ENST00000392481.2:c.*1C>T chr3.hg19:g.186507757G>A NA B4DM41|D3DNV2|Q6FHX7 hg19 CCDS3283.1 0.02 36.863761 CACxTTA COVERED NOVEL RFC4-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000344471.1 3 50.261164 KEEP 0 0 0 167 5759 GG 1 1 0 - 71 60 2645 0 0 192.420595 777 60 27271 1253 ENST00000392481.2 0.083726 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 186545092 186545092 __UNKNOWN__ IGR SNP G G A rs116165477 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:186545092G>A NA NA RP11-573D15.2 (1782 upstream) : ADIPOQ (15370 downstream) NA NA NA CCAGGCGAGGGCGCGGCGCCC 0.736 NA G||| 489 0.0976438 0.0038 0.1369 5008 , , NA 9314 0.1677 NA 0.0924 False NA ,,, NA NA NA 2504 0.1299 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.186545092G>A NA hg19 0.02 1.914862 AGGxCGC COVERED NOVEL 0 0 5.717774 KEEP 0 0 0 19 661 GG 0.99986 0.973829 0 4 60 140 0 0 9.717996 50 60 1827 79 0.074074 0.973965 ADIPOQ 9370 __UNKNOWN__ __UNKNOWN__ 3 186570892 186570892 __UNKNOWN__ Silent SNP T T G rs2241766 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:186570892T>G ENST00000412955.2 + 2 186 c.45T>G c.(43-45)ggT>ggG p.G15G ADIPOQ_ENST00000444204.2_Silent_p.G15G|ADIPOQ_ENST00000320741.2_Silent_p.G15G|ADIPOQ-AS1_ENST00000422718.1_RNA Q15848 ADIPO_HUMAN adiponectin, C1Q and collagen domain containing 15 NA adiponectin-activated signaling pathway (GO:0033211)|brown fat cell differentiation (GO:0050873)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to insulin stimulus (GO:0032869)|circadian rhythm (GO:0007623)|detection of oxidative stress (GO:0070994)|fatty acid beta-oxidation (GO:0006635)|fatty acid oxidation (GO:0019395)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|low-density lipoprotein particle clearance (GO:0034383)|membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of hormone secretion (GO:0046888)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of intracellular protein transport (GO:0090317)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metanephric mesenchymal cell migration (GO:2000590)|negative regulation of phagocytosis (GO:0050765)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of platelet-derived growth factor receptor-alpha signaling pathway (GO:2000584)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of receptor binding (GO:1900121)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of synaptic transmission (GO:0050805)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|positive regulation of blood pressure (GO:0045777)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of metanephric glomerular visceral epithelial cell development (GO:2000478)|positive regulation of monocyte chemotactic protein-1 production (GO:0071639)|positive regulation of myeloid cell apoptotic process (GO:0033034)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase A signaling (GO:0010739)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of renal albumin absorption (GO:2000534)|positive regulation of signal transduction (GO:0009967)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|regulation of glucose metabolic process (GO:0010906)|response to activity (GO:0014823)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to linoleic acid (GO:0070543)|response to nutrient (GO:0007584)|response to sucrose (GO:0009744)|response to tumor necrosis factor (GO:0034612) cell surface (GO:0009986)|collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) cytokine activity (GO:0005125)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|sialic acid binding (GO:0033691) breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(2) 16 all_cancers(143;1.2e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.47e-19) GBM - Glioblastoma multiforme(93;0.0776) CTCTGCCCGGTCATGACCAGG 0.622 NA T||| 758 0.151358 0.0356 0.1859 5008 , , NA 17033 0.2986 NA 0.1322 False NA ,,, NA NA NA 2504 0.1513 NA NA NA NA 0 GRCh37 CM032392 ADIPOQ M rs2241766 T , 212,4194 128.6+/-165.4 5,202,1996 88 81 84 http://www.ncbi.nlm.nih.gov/sites/varvu?gene 45,45 -1.2 0 3 dbSNP_98 84 991,7609 214.5+/-254.1 64,863,3373 no coding-synonymous,coding-synonymous ADIPOQ NM_001177800.1,NM_004797.3 , 69,1065,5369 GG,GT,TT 11.5233,4.8116,9.2496 , 15/245,15/245 186570892 1203,11803 2203 4300 6503 SO:0001819 synonymous_variant D45371 CCDS3284.1 3q27 2013-02-26 2005-01-24 2005-01-27 ENSG00000181092 ENSG00000181092 9370 Endogenous ligands 13633 protein-coding gene gene with protein product adipose most abundant gene transcript 1, adiponectin precursor 605441 adipocyte, C1Q and collagen domain containing ACDC NA 7592907, 8631877 Standard NM_004797 NM_001177800 NA Approved ACRP30, AdipoQ, apM1, GBP28, adiponectin uc003fra.3 Q15848 OTTHUMG00000156521 ENST00000412955.2:c.45T>G chr3.hg19:g.186570892T>G NA Q58EX9 hg19 CCDS3284.1 0.02 15.00439 CGGxCAT COVERED NOVEL ADIPOQ-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000344490.2 1 10.227329 KEEP 0 0 0 34 1028 TT 0.999998 0.999998 0 + 12 60 414 0 0 24.859558 343 60 11989 469 ENST00000412955.2 0.033803 1 ADIPOQ 9370 __UNKNOWN__ __UNKNOWN__ 3 186575392 186575392 __UNKNOWN__ 3'UTR SNP G G C rs1063539 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:186575392G>C ENST00000412955.2 + 0 3775 ADIPOQ_ENST00000444204.2_3'UTR|ADIPOQ_ENST00000320741.2_3'UTR Q15848 ADIPO_HUMAN adiponectin, C1Q and collagen domain containing NA NA adiponectin-activated signaling pathway (GO:0033211)|brown fat cell differentiation (GO:0050873)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to insulin stimulus (GO:0032869)|circadian rhythm (GO:0007623)|detection of oxidative stress (GO:0070994)|fatty acid beta-oxidation (GO:0006635)|fatty acid oxidation (GO:0019395)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|low-density lipoprotein particle clearance (GO:0034383)|membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of hormone secretion (GO:0046888)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of intracellular protein transport (GO:0090317)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metanephric mesenchymal cell migration (GO:2000590)|negative regulation of phagocytosis (GO:0050765)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of platelet-derived growth factor receptor-alpha signaling pathway (GO:2000584)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of receptor binding (GO:1900121)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of synaptic transmission (GO:0050805)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|positive regulation of blood pressure (GO:0045777)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of metanephric glomerular visceral epithelial cell development (GO:2000478)|positive regulation of monocyte chemotactic protein-1 production (GO:0071639)|positive regulation of myeloid cell apoptotic process (GO:0033034)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase A signaling (GO:0010739)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of renal albumin absorption (GO:2000534)|positive regulation of signal transduction (GO:0009967)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|regulation of glucose metabolic process (GO:0010906)|response to activity (GO:0014823)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to linoleic acid (GO:0070543)|response to nutrient (GO:0007584)|response to sucrose (GO:0009744)|response to tumor necrosis factor (GO:0034612) cell surface (GO:0009986)|collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) cytokine activity (GO:0005125)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|sialic acid binding (GO:0033691) breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(2) 16 all_cancers(143;1.2e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.47e-19) GBM - Glioblastoma multiforme(93;0.0776) GGCACAGAGAGAGTCAACTGA 0.473 NA G||| 767 0.153155 0.0348 0.1816 5008 , , NA 17249 0.2956 NA 0.1352 False NA ,,, NA NA NA 2504 0.1646 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D45371 CCDS3284.1 3q27 2013-02-26 2005-01-24 2005-01-27 ENSG00000181092 ENSG00000181092 9370 Endogenous ligands 13633 protein-coding gene gene with protein product adipose most abundant gene transcript 1, adiponectin precursor 605441 adipocyte, C1Q and collagen domain containing ACDC NA 7592907, 8631877 Standard NM_004797 NM_001177800 NA Approved ACRP30, AdipoQ, apM1, GBP28, adiponectin uc003fra.3 Q15848 OTTHUMG00000156521 ENST00000412955.2:c.*2899G>C chr3.hg19:g.186575392G>C NA Q58EX9 hg19 CCDS3284.1 0.02 7.079848 AGAxAGT COVERED NOVEL ADIPOQ-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000344490.2 0 8.728162 KEEP 0 0 0 29 1014 GG 0.999997 0.999997 0 + 7 60 265 0 0 17.188987 162 60 6111 232 ENST00000412955.2 0.04142 1 ST6GAL1 6480 __UNKNOWN__ __UNKNOWN__ 3 186793702 186793702 __UNKNOWN__ 3'UTR SNP G G A rs2239611 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:186793702G>A ENST00000169298.3 + 0 2006 ST6GAL1_ENST00000448044.1_3'UTR|ST6GAL1_ENST00000457772.2_3'UTR NM_173216.2 NP_775323.1 P15907 SIAT1_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 1 NA NA cellular protein metabolic process (GO:0044267)|humoral immune response (GO:0006959)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503) extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173) beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)|sialyltransferase activity (GO:0008373) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 7 all_cancers(143;2.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;8.53e-19) GBM - Glioblastoma multiforme(93;0.0939) TTTTACTCTAGGGGCCTCTGT 0.522 NA G||| 323 0.0644968 0.0 0.0605 5008 , , NA 17501 0.256 NA 0.005 False NA ,,, NA NA NA 2504 0.0184 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X62822 CCDS3285.1, CCDS46973.1 3q27-q28 2013-02-26 2003-01-14 2005-02-07 ENSG00000073849 ENSG00000073849 6480 2.4.99.1 10860 protein-coding gene gene with protein product ST6Gal I 109675 sialyltransferase 1 (beta-galactoside alpha-2,6-sialytransferase) SIAT1 NA 2408023 Standard NM_173216 NM_003032 NA Approved uc003frd.3 P15907 OTTHUMG00000156500 ENST00000169298.3:c.*111G>A chr3.hg19:g.186793702G>A NA A8KA14|B2R513|D3DNV3 hg19 CCDS3285.1 0.02 4.121227 CTAxGGG COVERED NOVEL ST6GAL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000344399.1 0 5.417234 KEEP 0 0 0 18 629 GG 0.999859 0.999859 0 + 8 60 295 0 0 19.927777 135 60 4952 183 ENST00000169298.3 0.055944 1 ST6GAL1 6480 __UNKNOWN__ __UNKNOWN__ 3 186794103 186794103 __UNKNOWN__ 3'UTR SNP G G A rs2284749 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:186794103G>A ENST00000169298.3 + 0 2407 ST6GAL1_ENST00000448044.1_3'UTR|ST6GAL1_ENST00000457772.2_3'UTR NM_173216.2 NP_775323.1 P15907 SIAT1_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 1 NA NA cellular protein metabolic process (GO:0044267)|humoral immune response (GO:0006959)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503) extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173) beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)|sialyltransferase activity (GO:0008373) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 7 all_cancers(143;2.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;8.53e-19) GBM - Glioblastoma multiforme(93;0.0939) CGCCTCCAGAGAAAAGTTGCT 0.517 NA A||| 1464 0.292332 0.4312 0.3199 5008 , , NA 19471 0.4216 NA 0.1213 False NA ,,, NA NA NA 2504 0.1278 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X62822 CCDS3285.1, CCDS46973.1 3q27-q28 2013-02-26 2003-01-14 2005-02-07 ENSG00000073849 ENSG00000073849 6480 2.4.99.1 10860 protein-coding gene gene with protein product ST6Gal I 109675 sialyltransferase 1 (beta-galactoside alpha-2,6-sialytransferase) SIAT1 NA 2408023 Standard NM_173216 NM_003032 NA Approved uc003frd.3 P15907 OTTHUMG00000156500 ENST00000169298.3:c.*512G>A chr3.hg19:g.186794103G>A NA A8KA14|B2R513|D3DNV3 hg19 CCDS3285.1 0.02 4.094643 AGAxAAA COVERED NOVEL ST6GAL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000344399.1 1 8.427293 KEEP 0 0 0 28 996 GG 0.999997 0.999997 0 + 5 60 184 0 0 11.32916 141 60 5390 212 ENST00000169298.3 0.034247 1 ST6GAL1 6480 __UNKNOWN__ __UNKNOWN__ 3 186795248 186795248 __UNKNOWN__ 3'UTR SNP G G A rs4686848 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:186795248G>A ENST00000169298.3 + 0 3552 ST6GAL1_ENST00000448044.1_3'UTR|ST6GAL1_ENST00000457772.2_3'UTR NM_173216.2 NP_775323.1 P15907 SIAT1_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 1 NA NA cellular protein metabolic process (GO:0044267)|humoral immune response (GO:0006959)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503) extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173) beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)|sialyltransferase activity (GO:0008373) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 7 all_cancers(143;2.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;8.53e-19) GBM - Glioblastoma multiforme(93;0.0939) TAACCATCTCGGAGCTGGGCT 0.527 NA G||| 477 0.0952476 0.0348 0.1282 5008 , , NA 21061 0.1577 NA 0.1123 False NA ,,, NA NA NA 2504 0.0716 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X62822 CCDS3285.1, CCDS46973.1 3q27-q28 2013-02-26 2003-01-14 2005-02-07 ENSG00000073849 ENSG00000073849 6480 2.4.99.1 10860 protein-coding gene gene with protein product ST6Gal I 109675 sialyltransferase 1 (beta-galactoside alpha-2,6-sialytransferase) SIAT1 NA 2408023 Standard NM_173216 NM_003032 NA Approved uc003frd.3 P15907 OTTHUMG00000156500 ENST00000169298.3:c.*1657G>A chr3.hg19:g.186795248G>A NA A8KA14|B2R513|D3DNV3 hg19 CCDS3285.1 0.02 6.630187 CTCxGAG COVERED NOVEL ST6GAL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000344399.1 2 3.946168 KEEP 0 1 22 21 729 GG 0.999879 0.999879 0 + 6 60 227 0 0 14.590524 146 60 5130 203 ENST00000169298.3 0.039474 1 ST6GAL1 6480 __UNKNOWN__ __UNKNOWN__ 3 186795640 186795640 __UNKNOWN__ 3'UTR SNP G G A rs1801380 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:186795640G>A ENST00000169298.3 + 0 3944 ST6GAL1_ENST00000448044.1_3'UTR|ST6GAL1_ENST00000457772.2_3'UTR NM_173216.2 NP_775323.1 P15907 SIAT1_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 1 NA NA cellular protein metabolic process (GO:0044267)|humoral immune response (GO:0006959)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503) extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173) beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)|sialyltransferase activity (GO:0008373) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 7 all_cancers(143;2.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;8.53e-19) GBM - Glioblastoma multiforme(93;0.0939) GACAACAACTGTCCTCCTTGG 0.542 NA A||| 952 0.190096 0.2958 0.2478 5008 , , NA 20517 0.1667 NA 0.1143 False NA ,,, NA NA NA 2504 0.1084 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X62822 CCDS3285.1, CCDS46973.1 3q27-q28 2013-02-26 2003-01-14 2005-02-07 ENSG00000073849 ENSG00000073849 6480 2.4.99.1 10860 protein-coding gene gene with protein product ST6Gal I 109675 sialyltransferase 1 (beta-galactoside alpha-2,6-sialytransferase) SIAT1 NA 2408023 Standard NM_173216 NM_003032 NA Approved uc003frd.3 P15907 OTTHUMG00000156500 ENST00000169298.3:c.*2049G>A chr3.hg19:g.186795640G>A NA A8KA14|B2R513|D3DNV3 hg19 CCDS3285.1 0.02 8.912195 ACTxTCC COVERED NOVEL ST6GAL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000344399.1 1 12.929822 KEEP 0 0 0 43 1535 GG 1 1 0 + 8 60 300 0 0 18.882222 213 60 7997 318 ENST00000169298.3 0.036199 1 ST6GAL1 6480 __UNKNOWN__ __UNKNOWN__ 3 186795924 186795924 __UNKNOWN__ 3'UTR SNP C C T rs76599446 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:186795924C>T ENST00000169298.3 + 0 4228 ST6GAL1_ENST00000448044.1_3'UTR|ST6GAL1_ENST00000457772.2_3'UTR NM_173216.2 NP_775323.1 P15907 SIAT1_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 1 NA NA cellular protein metabolic process (GO:0044267)|humoral immune response (GO:0006959)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503) extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173) beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)|sialyltransferase activity (GO:0008373) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 7 all_cancers(143;2.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;8.53e-19) GBM - Glioblastoma multiforme(93;0.0939) GGTGTGAAGACTGGGACGACA 0.353 NA C||| 323 0.0644968 0.0 0.0605 5008 , , NA 18793 0.256 NA 0.005 False NA ,,, NA NA NA 2504 0.0184 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X62822 CCDS3285.1, CCDS46973.1 3q27-q28 2013-02-26 2003-01-14 2005-02-07 ENSG00000073849 ENSG00000073849 6480 2.4.99.1 10860 protein-coding gene gene with protein product ST6Gal I 109675 sialyltransferase 1 (beta-galactoside alpha-2,6-sialytransferase) SIAT1 NA 2408023 Standard NM_173216 NM_003032 NA Approved uc003frd.3 P15907 OTTHUMG00000156500 ENST00000169298.3:c.*2333C>T chr3.hg19:g.186795924C>T NA A8KA14|B2R513|D3DNV3 hg19 CCDS3285.1 0.02 4.077349 AGAxTGG COVERED NOVEL ST6GAL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000344399.1 0 9.631697 KEEP 0 0 0 32 1162 CC 0.999997 0.999997 0 + 8 60 291 0 0 19.407258 140 60 5273 205 ENST00000169298.3 0.054054 1 ST6GAL1 6480 __UNKNOWN__ __UNKNOWN__ 3 186796053 186796053 __UNKNOWN__ 3'UTR SNP T T C rs7559 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:186796053T>C ENST00000169298.3 + 0 4357 ST6GAL1_ENST00000448044.1_3'UTR|ST6GAL1_ENST00000457772.2_3'UTR NM_173216.2 NP_775323.1 P15907 SIAT1_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 1 NA NA cellular protein metabolic process (GO:0044267)|humoral immune response (GO:0006959)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503) extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173) beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)|sialyltransferase activity (GO:0008373) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 7 all_cancers(143;2.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;8.53e-19) GBM - Glioblastoma multiforme(93;0.0939) TTTGGTAAAATGCAAATTATG 0.294 NA T||| 981 0.195887 0.2958 0.2536 5008 , , NA 17111 0.1687 NA 0.1233 False NA ,,, NA NA NA 2504 0.1227 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X62822 CCDS3285.1, CCDS46973.1 3q27-q28 2013-02-26 2003-01-14 2005-02-07 ENSG00000073849 ENSG00000073849 6480 2.4.99.1 10860 protein-coding gene gene with protein product ST6Gal I 109675 sialyltransferase 1 (beta-galactoside alpha-2,6-sialytransferase) SIAT1 NA 2408023 Standard NM_173216 NM_003032 NA Approved uc003frd.3 P15907 OTTHUMG00000156500 ENST00000169298.3:c.*2462T>C chr3.hg19:g.186796053T>C NA A8KA14|B2R513|D3DNV3 hg19 CCDS3285.1 0.02 4.294281 AAAxGCA COVERED NOVEL ST6GAL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000344399.1 1 5.696308 KEEP 0 0 0 19 563 TT 0.99986 0.99986 0 + 6 60 224 0 0 14.398695 140 60 5209 198 ENST00000169298.3 0.041096 1 MASP1 5648 __UNKNOWN__ __UNKNOWN__ 3 186938956 186938956 __UNKNOWN__ Intron SNP C C T rs3733001 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:186938956C>T ENST00000337774.5 - 15 2199 NM_001879.5 NP_001870.3 P48740 MASP1_HUMAN mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) NA NA complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916) extracellular region (GO:0005576)|extracellular space (GO:0005615) calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252) NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 60 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) TCCTCATCCCCGGCTGAGAAG 0.507 NA T||| 2353 0.469848 0.559 0.4092 5008 , , NA 20079 0.6895 NA 0.2406 False NA ,,, NA NA NA 2504 0.4018 NA NA NA NA 0 T 2208,2198 549,1110,544 62 49 54 0.8 0 3 dbSNP_107 54 2112,6488 265,1582,2453 no intron MASP1 NM_001879.5 814,2692,2997 TT,TC,CC 24.5581,49.8865,33.2154 186938956 4320,8686 2203 4300 6503 SO:0001627 intron_variant D28593 CCDS33907.1, CCDS33908.1, CCDS33909.1 3q27-q28 2014-09-17 2005-08-17 ENSG00000127241 ENSG00000127241 5648 Serine peptidases / Serine peptidases 6901 protein-coding gene gene with protein product 600521 mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor) CRARF, PRSS5 NA 8018603, 8240317 Standard NM_001879 NR_033519 NA Approved MASP uc003fri.3 P48740 OTTHUMG00000156461 ENST00000337774.5:c.1810-34G>A chr3.hg19:g.186938956C>T NA A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09 hg19 CCDS33907.1 0.02 8.890942 CCCxGGC COVERED NOVEL MASP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000344262.1 0 17.754009 KEEP 0 0 0 59 2012 CC 1 1 0 - 15 60 520 0 0 34.99798 220 60 7712 385 ENST00000337774.5 0.06383 1 MASP1 5648 __UNKNOWN__ __UNKNOWN__ 3 186952588 186952588 __UNKNOWN__ 3'UTR SNP G G A rs1109452 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:186952588G>A ENST00000392472.2 - 0 3183 MASP1_ENST00000296280.6_3'UTR|MASP1_ENST00000337774.5_Intron P48740 MASP1_HUMAN mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) NA NA complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916) extracellular region (GO:0005576)|extracellular space (GO:0005615) calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252) NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 60 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) CCCCATATTCGGGCCTGGGCT 0.502 NA G||| 1703 0.340056 0.0983 0.3545 5008 , , NA 19620 0.6528 NA 0.2863 False NA ,,, NA NA NA 2504 0.3896 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D28593 CCDS33907.1, CCDS33908.1, CCDS33909.1 3q27-q28 2014-09-17 2005-08-17 ENSG00000127241 ENSG00000127241 5648 Serine peptidases / Serine peptidases 6901 protein-coding gene gene with protein product 600521 mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor) CRARF, PRSS5 NA 8018603, 8240317 Standard NM_001879 NR_033519 NA Approved MASP uc003fri.3 P48740 OTTHUMG00000156461 ENST00000392472.2:c.*884C>T chr3.hg19:g.186952588G>A NA A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09 hg19 0.02 6.966643 TTCxGGC COVERED NOVEL MASP1-005 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000344266.2 2 7.524082 KEEP 0 0 0 25 856 GG 0.999931 0.999931 0 - 12 60 449 0 0 31.426881 170 60 6053 246 ENST00000392472.2 0.065934 1 MASP1 5648 __UNKNOWN__ __UNKNOWN__ 3 186952914 186952914 __UNKNOWN__ 3'UTR SNP G G C rs72549262 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:186952914G>C ENST00000392472.2 - 0 2857 MASP1_ENST00000296280.6_3'UTR|MASP1_ENST00000337774.5_Intron P48740 MASP1_HUMAN mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) NA NA complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916) extracellular region (GO:0005576)|extracellular space (GO:0005615) calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252) NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 60 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) TGCTCCAAGGGATCACACTAA 0.483 NA G||| 758 0.151358 0.0068 0.1297 5008 , , NA 19492 0.4345 NA 0.0915 False NA ,,, NA NA NA 2504 0.1319 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D28593 CCDS33907.1, CCDS33908.1, CCDS33909.1 3q27-q28 2014-09-17 2005-08-17 ENSG00000127241 ENSG00000127241 5648 Serine peptidases / Serine peptidases 6901 protein-coding gene gene with protein product 600521 mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor) CRARF, PRSS5 NA 8018603, 8240317 Standard NM_001879 NR_033519 NA Approved MASP uc003fri.3 P48740 OTTHUMG00000156461 ENST00000392472.2:c.*558C>G chr3.hg19:g.186952914G>C NA A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09 hg19 0.02 4.093723 AGGxATC COVERED NOVEL MASP1-005 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000344266.2 0 3.308259 KEEP 0 0 0 11 371 GG 0.993072 0.993067 0 - 7 60 242 0 0 16.173653 105 60 3865 137 ENST00000392472.2 0.0625 0.999995 MASP1 5648 __UNKNOWN__ __UNKNOWN__ 3 186965268 186965268 __UNKNOWN__ Intron SNP A A G rs3774275 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:186965268A>G ENST00000392472.2 - 7 1203 MASP1_ENST00000296280.6_Intron|MASP1_ENST00000337774.5_Intron|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000169293.6_Intron|MASP1_ENST00000392470.2_Intron P48740 MASP1_HUMAN mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) NA NA complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916) extracellular region (GO:0005576)|extracellular space (GO:0005615) calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252) NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 60 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) CAAGCAAAGCAGAAACAGTTT 0.413 NA A||| 1205 0.240615 0.0212 0.1585 5008 , , NA 20016 0.4177 NA 0.3082 False NA ,,, NA NA NA 2504 0.3436 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D28593 CCDS33907.1, CCDS33908.1, CCDS33909.1 3q27-q28 2014-09-17 2005-08-17 ENSG00000127241 ENSG00000127241 5648 Serine peptidases / Serine peptidases 6901 protein-coding gene gene with protein product 600521 mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor) CRARF, PRSS5 NA 8018603, 8240317 Standard NM_001879 NR_033519 NA Approved MASP uc003fri.3 P48740 OTTHUMG00000156461 ENST00000392472.2:c.751+2770T>C chr3.hg19:g.186965268A>G NA A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09 hg19 0.02 6.073095 AGCxGAA COVERED NOVEL MASP1-005 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000344266.2 1 3.008924 KEEP 0 0 0 10 306 AA 0.992708 0.992708 0 - 9 60 324 0 0 21.410238 161 60 6002 189 ENST00000392472.2 0.052941 1 RTP4 64108 __UNKNOWN__ __UNKNOWN__ 3 187088812 187088812 __UNKNOWN__ Missense_Mutation SNP C C T rs3821812 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:187088812C>T ENST00000259030.2 + 2 502 c.392C>T c.(391-393)aCg>aTg p.T131M NM_022147.2 NP_071430.2 Q96DX8 RTP4_HUMAN receptor (chemosensory) transporter protein 4 131 NA T -> M (in Ref. 1; AAT70683, 2; CAC14309 and 4; AAH13161). {ECO:0000305}. detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|protein targeting to membrane (GO:0006612) cytoplasm (GO:0005737)|integral component of membrane (GO:0016021) breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1) 11 all_cancers(143;4.66e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.56e-18) GBM - Glioblastoma multiforme(93;0.0269) GGAAATGGCACGAGGAAGTCT 0.493 NA C||| 1925 0.384385 0.1399 0.4942 5008 , , NA 21664 0.7351 NA 0.3469 False NA ,,, NA NA NA 2504 0.3139 NA NA NA NA 0 C MET/THR 912,3494 348.5+/-309.9 94,724,1385 57 57 57 392 -7.4 0 3 dbSNP_107 57 3018,5582 466.6+/-366.8 525,1968,1807 yes missense RTP4 NM_022147.2 81 619,2692,3192 TT,TC,CC 35.093,20.699,30.2168 benign 131/247 187088812 3930,9076 2203 4300 6503 SO:0001583 missense BC013161 CCDS33910.1 3q27.3 2014-02-20 2006-11-21 ENSG00000136514 ENSG00000136514 64108 Receptor transporter proteins 23992 protein-coding gene gene with protein product zinc finger, 3CxxC-type 4 609350 receptor transporter protein 4 NA 16271481, 15550249, 16720576 Standard NM_022147 NM_022147 NA Approved IFRG28, Z3CXXC4 uc003frm.3 Q96DX8 OTTHUMG00000156459 ENST00000259030.2:c.392C>T chr3.hg19:g.187088812C>T ENSP00000259030:p.Thr131Met NA Q9H4F3 hg19 CCDS33910.1 0.02 11.413986 GCAxGAG COVERED 887 0.40613553113553114 80 0.16260162601626016 154 0.425414364640884 393 0.6870629370629371 260 0.34300791556728233 C 1.751 -0.489207 0.04352 0.20699 0.35093 ENSG00000136514 ENST00000259030 T 0.22743 1.94 3.69 -7.38 0.01407 . 3.786760 0.00496 N 0.000148 T 0.00012 0.0000 N 0.02539 -0.55 0.80722 P 0.0 B 0.28998 0.23 B 0.20767 0.031 T 0.34254 -0.9836 9 0.31617 T 0.26 4.8248 3.2926 0.06954 0.1014:0.3999:0.2046:0.2941 rs3821812;rs17779027;rs17856419;rs56552616;rs61531890;rs3821812 131 Q96DX8 RTP4_HUMAN M 131 ENSP00000259030:T131M ENSP00000259030:T131M T + 2 0 RTP4 188571506 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -1.461000 0.02366 -2.845000 0.00333 -1.834000 0.00590 ACG NOVEL RTP4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000344260.1 2 13.844702 KEEP 0 0 0 46 1607 CC 1 1 0 + 22 60 758 0 0 53.429448 243 60 8556 374 ENST00000259030.2 0.083019 1 RTP4 64108 __UNKNOWN__ __UNKNOWN__ 3 187088903 187088903 __UNKNOWN__ Silent SNP C C A rs1533595 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:187088903C>A ENST00000259030.2 + 2 593 c.483C>A c.(481-483)atC>atA p.I161I NM_022147.2 NP_071430.2 Q96DX8 RTP4_HUMAN receptor (chemosensory) transporter protein 4 161 NA detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|protein targeting to membrane (GO:0006612) cytoplasm (GO:0005737)|integral component of membrane (GO:0016021) breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1) 11 all_cancers(143;4.66e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.56e-18) GBM - Glioblastoma multiforme(93;0.0269) CTTTGGGCATCTGTGGACAGG 0.512 NA C||| 1926 0.384585 0.1407 0.4942 5008 , , NA 1612 0.7351 NA 0.3469 False NA ,,, NA NA NA 2504 0.3139 NA NA NA NA 0 C 913,3493 349.3+/-310.3 94,725,1384 63 55 58 483 0.2 0 3 dbSNP_88 58 3018,5582 466.0+/-366.7 525,1968,1807 no coding-synonymous RTP4 NM_022147.2 619,2693,3191 AA,AC,CC 35.093,20.7217,30.2245 161/247 187088903 3931,9075 2203 4300 6503 SO:0001819 synonymous_variant BC013161 CCDS33910.1 3q27.3 2014-02-20 2006-11-21 ENSG00000136514 ENSG00000136514 64108 Receptor transporter proteins 23992 protein-coding gene gene with protein product zinc finger, 3CxxC-type 4 609350 receptor transporter protein 4 NA 16271481, 15550249, 16720576 Standard NM_022147 NM_022147 NA Approved IFRG28, Z3CXXC4 uc003frm.3 Q96DX8 OTTHUMG00000156459 ENST00000259030.2:c.483C>A chr3.hg19:g.187088903C>A NA Q9H4F3 hg19 CCDS33910.1 0.02 8.428616 CATxTGT COVERED NOVEL RTP4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000344260.1 4 15.649039 KEEP 0 0 0 52 1821 CC 1 1 0 + 21 60 761 0 0 55.121509 221 60 8387 348 ENST00000259030.2 0.086777 1 RTP4 64108 __UNKNOWN__ __UNKNOWN__ 3 187088926 187088926 __UNKNOWN__ Missense_Mutation SNP G G A rs1533594 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:187088926G>A ENST00000259030.2 + 2 616 c.506G>A c.(505-507)tGc>tAc p.C169Y NM_022147.2 NP_071430.2 Q96DX8 RTP4_HUMAN receptor (chemosensory) transporter protein 4 169 NA C -> Y (in Ref. 1; AAT70683, 2; CAC14309 and 4; AAH13161). {ECO:0000305}. detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|protein targeting to membrane (GO:0006612) cytoplasm (GO:0005737)|integral component of membrane (GO:0016021) breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1) 11 all_cancers(143;4.66e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.56e-18) GBM - Glioblastoma multiforme(93;0.0269) TTAAAAAGCTGCATGACAAAG 0.512 NA A||| 4015 0.801717 0.6051 0.8674 5008 , , NA 6352 0.9613 NA 0.8191 False NA ,,, NA NA NA 2504 0.8384 NA NA NA NA 0 A TYR/CYS 2991,1415 463.6+/-353.6 1006,979,218 66 57 60 506 -8.2 0 3 dbSNP_88 60 7088,1512 286.1+/-297.5 2920,1248,132 yes missense RTP4 NM_022147.2 194 3926,2227,350 AA,AG,GG 17.5814,32.1153,22.505 benign 169/247 187088926 10079,2927 2203 4300 6503 SO:0001583 missense BC013161 CCDS33910.1 3q27.3 2014-02-20 2006-11-21 ENSG00000136514 ENSG00000136514 64108 Receptor transporter proteins 23992 protein-coding gene gene with protein product zinc finger, 3CxxC-type 4 609350 receptor transporter protein 4 NA 16271481, 15550249, 16720576 Standard NM_022147 NM_022147 NA Approved IFRG28, Z3CXXC4 uc003frm.3 Q96DX8 OTTHUMG00000156459 ENST00000259030.2:c.506G>A chr3.hg19:g.187088926G>A ENSP00000259030:p.Cys169Tyr NA Q9H4F3 hg19 CCDS33910.1 0.02 7.893837 GCTxCAT COVERED 1777 0.8136446886446886 309 0.6280487804878049 305 0.8425414364640884 545 0.9527972027972028 618 0.8153034300791556 A 0.006 -2.087876 0.00367 0.678847 0.824186 ENSG00000136514 ENST00000259030 T 0.17054 2.3 4.08 -8.16 0.01061 . 5.116030 0.00166 N 0.000004 T 0.00012 0.0000 N 0.12182 0.205 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.40572 -0.9556 9 0.02654 T 1 5.6981 0.759 0.01004 0.2674:0.2684:0.2675:0.1968 rs1533594;rs3821813;rs17856420;rs56546933;rs59303210;rs1533594 169 Q96DX8 RTP4_HUMAN Y 169 ENSP00000259030:C169Y ENSP00000259030:C169Y C + 2 0 RTP4 188571620 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -1.113000 0.03296 -2.888000 0.00316 -2.179000 0.00317 TGC NOVEL RTP4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000344260.1 3 2.848985 KEEP 0 4 127 54 1910 GG 1 1 0 + 12 60 420 0 0 27.710687 200 60 7670 327 ENST00000259030.2 0.056604 1 RTP4 64108 __UNKNOWN__ __UNKNOWN__ 3 187089031 187089031 __UNKNOWN__ Missense_Mutation SNP C C A rs1003995|rs3926263 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:187089031C>A ENST00000259030.2 + 2 721 c.611C>A c.(610-612)gCt>gAt p.A204D NM_022147.2 NP_071430.2 Q96DX8 RTP4_HUMAN receptor (chemosensory) transporter protein 4 204 NA A -> D (in Ref. 1; AAT70683, 2; CAC14309 and 4; AAH13161). {ECO:0000305}. detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|protein targeting to membrane (GO:0006612) cytoplasm (GO:0005737)|integral component of membrane (GO:0016021) breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1) 11 all_cancers(143;4.66e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.56e-18) GBM - Glioblastoma multiforme(93;0.0269) AACCAGTCAGCTGAGGCAAAA 0.493 NA C||| 1442 0.287939 0.0348 0.4524 5008 , , NA 19751 0.4504 NA 0.3419 False NA ,,, NA NA NA 2504 0.2904 NA NA NA NA 0 C ASP/ALA 449,3957 215.1+/-234.2 22,405,1776 85 69 74 611 0.7 0 3 dbSNP_86 74 2973,5627 462.3+/-365.7 509,1955,1836 yes missense RTP4 NM_022147.2 126 531,2360,3612 AA,AC,CC 34.5698,10.1906,26.3109 possibly-damaging 204/247 187089031 3422,9584 2203 4300 6503 SO:0001583 missense BC013161 CCDS33910.1 3q27.3 2014-02-20 2006-11-21 ENSG00000136514 ENSG00000136514 64108 Receptor transporter proteins 23992 protein-coding gene gene with protein product zinc finger, 3CxxC-type 4 609350 receptor transporter protein 4 NA 16271481, 15550249, 16720576 Standard NM_022147 NM_022147 NA Approved IFRG28, Z3CXXC4 uc003frm.3 Q96DX8 OTTHUMG00000156459 ENST00000259030.2:c.611C>A chr3.hg19:g.187089031C>A ENSP00000259030:p.Ala204Asp NA Q9H4F3 hg19 CCDS33910.1 0.02 6.279827 CAGxTGA COVERED 684 0.3131868131868132 29 0.05894308943089431 145 0.4005524861878453 252 0.4405594405594406 258 0.3403693931398417 C 11.95 1.790253 0.31685 0.101906 0.345698 ENSG00000136514 ENST00000259030 T 0.19806 2.12 2.56 0.673 0.17941 . . . . . T 0.00012 0.0000 N 0.14661 0.345 0.80722 P 0.0 P 0.40476 0.718 B 0.36244 0.22 T 0.45702 -0.9243 8 0.28530 T 0.3 1.011 3.5252 0.07757 0.0:0.5711:0.2697:0.1592 rs3926263;rs3926264 204 Q96DX8 RTP4_HUMAN D 204 ENSP00000259030:A204D ENSP00000259030:A204D A + 2 0 RTP4 188571725 0.002000 0.14202 0.000000 0.03702 0.021000 0.10359 0.841000 0.27613 0.154000 0.19237 0.655000 0.94253 GCT NOVEL RTP4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000344260.1 2 18.34817 KEEP 0 0 0 61 2188 CC 1 1 0 + 9 60 319 0 0 20.453522 182 60 6925 310 ENST00000259030.2 0.04712 1 RTP4 64108 __UNKNOWN__ __UNKNOWN__ 3 187089297 187089297 __UNKNOWN__ 3'UTR SNP C C T rs9028 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:187089297C>T ENST00000259030.2 + 0 987 NM_022147.2 NP_071430.2 Q96DX8 RTP4_HUMAN receptor (chemosensory) transporter protein 4 NA NA detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|protein targeting to membrane (GO:0006612) cytoplasm (GO:0005737)|integral component of membrane (GO:0016021) breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1) 11 all_cancers(143;4.66e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.56e-18) GBM - Glioblastoma multiforme(93;0.0269) GTTTCCTAGCCATCCTCTGAA 0.338 NA T||| 3034 0.605831 0.3812 0.6225 5008 , , NA 20947 0.9067 NA 0.5746 False NA ,,, NA NA NA 2504 0.6196 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC013161 CCDS33910.1 3q27.3 2014-02-20 2006-11-21 ENSG00000136514 ENSG00000136514 64108 Receptor transporter proteins 23992 protein-coding gene gene with protein product zinc finger, 3CxxC-type 4 609350 receptor transporter protein 4 NA 16271481, 15550249, 16720576 Standard NM_022147 NM_022147 NA Approved IFRG28, Z3CXXC4 uc003frm.3 Q96DX8 OTTHUMG00000156459 ENST00000259030.2:c.*136C>T chr3.hg19:g.187089297C>T NA Q9H4F3 hg19 CCDS33910.1 0.02 1.919088 AGCxATC COVERED NOVEL RTP4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000344260.1 2 2.643813 KEEP 0 1 32 20 717 CC 0.999869 0.999825 0 + 8 60 297 0 0 21.448991 91 60 3354 147 ENST00000259030.2 0.080808 0.999956 LPP 4026 __UNKNOWN__ __UNKNOWN__ 3 187897059 187897059 __UNKNOWN__ Intron SNP G G A rs13096615 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:187897059G>A ENST00000448637.1 + 1 80 AC022498.1_ENST00000392468.2_Missense_Mutation_p.A30T Q93052 LPP_HUMAN LIM domain containing preferred translocation partner in lipoma NA NA cell adhesion (GO:0007155) cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886) zinc ion binding (GO:0008270) HMGA2/LPP(161) NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088) all_lung(153;0.00139)|Lung NSC(153;0.00202) GBM - Glioblastoma multiforme(93;0.00602) CCCTGTCTTCGCAGCGGAGCT 0.562 NA T HMGA2, MLL, C12orf9 lipoma, leukemia A||| 2765 0.552117 0.2254 0.67 5008 , , NA 16973 0.8611 NA 0.5557 False NA ,,, NA NA NA 2504 0.5879 NA NA NA Dom yes 3 3q28 4026 LIM domain containing preferred translocation partner in lipoma L, M 0 A 419,965 64,291,337 84 74 77 -7 0 3 dbSNP_121 77 1745,1437 477,791,323 no intron LPP NM_001167672.1 541,1082,660 AA,AG,GG 45.1603,30.2746,47.3938 187897059 2164,2402 692 1591 2283 SO:0001627 intron_variant AL833171 CCDS3291.1 3q27-q28 2004-03-02 2002-01-14 ENSG00000145012 ENSG00000145012 4026 6679 protein-coding gene gene with protein product 600700 LIM domain-containing preferred translocation partner in lipoma NA 8812423 Standard NM_005578 XM_005247453 NA Approved uc003frs.2 Q93052 OTTHUMG00000156387 ENST00000448637.1:c.-67+25908G>A chr3.hg19:g.187897059G>A NA A1L4L6|D3DNV6|Q8NFX5 hg19 0.02 8.760629 TTCxCAG COVERED 1291 0.5911172161172161 135 0.27439024390243905 239 0.6602209944751382 494 0.8636363636363636 423 0.558047493403694 A 6.884 0.532549 0.13127 0.302746 0.548397 ENSG00000213132 ENST00000392468 . . . 3.68 -7.02 0.01589 . . . . . T 0.00012 0.0000 . . . 0.80722 P 0.0 . . . . . . T 0.27365 -1.0076 4 0.87932 D 0 . 1.8004 0.03070 0.2928:0.0982:0.3588:0.2502 rs13096615;rs58562367;rs13096615 . . . T 30 . ENSP00000376261:A30T A + 1 0 AC022498.1 189379753 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -3.027000 0.00639 -2.691000 0.00403 -2.680000 0.00142 GCA NOVEL LPP-002 PUTATIVE basic protein_coding NA protein_coding OTTHUMT00000344031.1 0 30.998272 KEEP 0 0 0 103 3587 GG 1 1 0 + 16 60 583 0 0 40.13328 234 60 8076 460 ENST00000448637.1 0.064 1 LPP 4026 __UNKNOWN__ __UNKNOWN__ 3 187897424 187897424 __UNKNOWN__ Intron SNP A A C rs4577458 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:187897424A>C ENST00000448637.1 + 1 80 AC022498.1_ENST00000392468.2_3'UTR Q93052 LPP_HUMAN LIM domain containing preferred translocation partner in lipoma NA NA cell adhesion (GO:0007155) cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886) zinc ion binding (GO:0008270) HMGA2/LPP(161) NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088) all_lung(153;0.00139)|Lung NSC(153;0.00202) GBM - Glioblastoma multiforme(93;0.00602) TCCTGCCAGGAATCCAGCCGT 0.507 NA T HMGA2, MLL, C12orf9 lipoma, leukemia A||| 1675 0.334465 0.1891 0.4164 5008 , , NA 19573 0.4583 NA 0.4433 False NA ,,, NA NA NA 2504 0.2331 NA NA NA Dom yes 3 3q28 4026 LIM domain containing preferred translocation partner in lipoma L, M 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL833171 CCDS3291.1 3q27-q28 2004-03-02 2002-01-14 ENSG00000145012 ENSG00000145012 4026 6679 protein-coding gene gene with protein product 600700 LIM domain-containing preferred translocation partner in lipoma NA 8812423 Standard NM_005578 XM_005247453 NA Approved uc003frs.2 Q93052 OTTHUMG00000156387 ENST00000448637.1:c.-67+26273A>C chr3.hg19:g.187897424A>C NA A1L4L6|D3DNV6|Q8NFX5 hg19 0.02 -0.306797 AGGxATC COVERED NOVEL LPP-002 PUTATIVE basic protein_coding NA protein_coding OTTHUMT00000344031.1 0 6.014012 KEEP 0 0 0 20 553 AA 0.999863 0.800136 0 + 3 60 123 0 0 9.286777 32 60 1111 67 ENST00000448637.1 0.085714 0.800245 TP63 8626 __UNKNOWN__ __UNKNOWN__ 3 189585852 189585852 __UNKNOWN__ Intron SNP C C T rs7653848 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:189585852C>T ENST00000354600.5 + 5 851 TP63_ENST00000392461.3_Intron|TP63_ENST00000456148.1_Intron|TP63_ENST00000440651.2_Intron|TP63_ENST00000382063.4_Intron|TP63_ENST00000449992.1_Intron|TP63_ENST00000264731.3_Intron|TP63_ENST00000320472.5_Intron|TP63_ENST00000392463.2_Intron|TP63_ENST00000418709.2_Intron|TP63_ENST00000392460.3_Intron|TP63_ENST00000437221.1_Intron NM_001114980.1|NM_001114981.1 NP_001108452.1|NP_001108453.1 Q9H3D4 P63_HUMAN tumor protein p63 NA NA apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157) chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) CCTTTGTGCTCTAAATCCTTG 0.398 NA HNSCC(45;0.13) T||| 1459 0.291334 0.6392 0.1744 5008 , , NA 20440 0.1458 NA 0.171 False NA ,,, NA NA NA 2504 0.1779 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB010153 CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1 3q27-q29 2014-09-17 ENSG00000073282 ENSG00000073282 8626 15979 protein-coding gene gene with protein product 603273 tumor protein p73-like, tumor protein p53-like, tumor protein p53-competing protein TP73L, TP53L, TP53CP NA 9774969, 9662378, 11181441, 11181451 Standard NM_003722 NM_003722 NA Approved p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP uc003fry.2 Q9H3D4 OTTHUMG00000156313 ENST00000354600.5:c.710+121C>T chr3.hg19:g.189585852C>T NA O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74 hg19 CCDS46978.1 0.02 6.326305 GCTxTAA COVERED NOVEL TP63-004 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000343868.1 2 4.81587 KEEP 0 0 0 16 582 CC 0.997832 0.997832 0 + 12 60 427 0 0 28.772707 186 60 7128 243 ENST00000354600.5 0.060606 1 TP63 8626 __UNKNOWN__ __UNKNOWN__ 3 189587091 189587091 __UNKNOWN__ Intron SNP A A G rs6789961 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:189587091A>G ENST00000354600.5 + 7 988 TP63_ENST00000392461.3_Intron|TP63_ENST00000456148.1_Intron|TP63_ENST00000440651.2_Intron|TP63_ENST00000382063.4_Intron|TP63_ENST00000449992.1_Intron|TP63_ENST00000264731.3_Intron|TP63_ENST00000320472.5_Intron|TP63_ENST00000392463.2_Intron|TP63_ENST00000418709.2_Intron|TP63_ENST00000392460.3_Intron|TP63_ENST00000437221.1_Intron NM_001114980.1|NM_001114981.1 NP_001108452.1|NP_001108453.1 Q9H3D4 P63_HUMAN tumor protein p63 NA NA apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157) chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) CCAGGATGAAACTTGCATTTT 0.323 NA HNSCC(45;0.13) A||| 1564 0.3123 0.6604 0.2046 5008 , , NA 17584 0.1468 NA 0.2157 False NA ,,, NA NA NA 2504 0.1881 NA NA NA NA 0 A ,,,,, 2517,1889 622.6+/-394.0 722,1073,408 102 89 94 ,,,,, 2.9 0.1 3 dbSNP_116 94 1892,6708 327.5+/-317.9 216,1460,2624 no intron,intron,intron,intron,intron,intron TP63 NM_001114978.1,NM_001114979.1,NM_001114980.1,NM_001114981.1,NM_001114982.1,NM_003722.4 ,,,,, 938,2533,3032 GG,GA,AA 22.0,42.8734,33.8997 ,,,,, ,,,,, 189587091 4409,8597 2203 4300 6503 SO:0001627 intron_variant AB010153 CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1 3q27-q29 2014-09-17 ENSG00000073282 ENSG00000073282 8626 15979 protein-coding gene gene with protein product 603273 tumor protein p73-like, tumor protein p53-like, tumor protein p53-competing protein TP73L, TP53L, TP53CP NA 9774969, 9662378, 11181441, 11181451 Standard NM_003722 NM_003722 NA Approved p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP uc003fry.2 Q9H3D4 OTTHUMG00000156313 ENST00000354600.5:c.848-22A>G chr3.hg19:g.189587091A>G NA O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74 hg19 CCDS46978.1 0.02 8.463557 GAAxCTT COVERED NOVEL TP63-004 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000343868.1 1 15.648346 KEEP 0 0 0 52 1679 AA 1 1 0 + 7 60 253 0 0 14.950042 231 60 8176 370 ENST00000354600.5 0.029412 1 TP63 8626 __UNKNOWN__ __UNKNOWN__ 3 189612832 189612832 __UNKNOWN__ 3'UTR SNP G G A rs73199799 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:189612832G>A ENST00000354600.5 + 0 2443 TP63_ENST00000382063.4_3'UTR|TP63_ENST00000264731.3_3'UTR NM_001114980.1|NM_001114981.1 NP_001108452.1|NP_001108453.1 Q9H3D4 P63_HUMAN tumor protein p63 NA NA apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157) chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) TGTGAGTGACGATGATGTACA 0.363 NA HNSCC(45;0.13) A||| 394 0.0786741 0.1339 0.085 5008 , , NA 17495 0.0278 NA 0.0755 False NA ,,, NA NA NA 2504 0.0552 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB010153 CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1 3q27-q29 2014-09-17 ENSG00000073282 ENSG00000073282 8626 15979 protein-coding gene gene with protein product 603273 tumor protein p73-like, tumor protein p53-like, tumor protein p53-competing protein TP73L, TP53L, TP53CP NA 9774969, 9662378, 11181441, 11181451 Standard NM_003722 NM_003722 NA Approved p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP uc003fry.2 Q9H3D4 OTTHUMG00000156313 ENST00000354600.5:c.*541G>A chr3.hg19:g.189612832G>A NA O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74 hg19 CCDS46978.1 0.02 4.059645 GACxATG COVERED NOVEL TP63-004 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000343868.1 1 5.417077 KEEP 0 0 0 18 594 GG 0.999859 0.999859 0 + 5 60 185 0 0 11.36945 145 60 5168 204 ENST00000354600.5 0.033333 1 LEPREL1 55214 __UNKNOWN__ __UNKNOWN__ 3 189700968 189700968 __UNKNOWN__ Intron SNP G G C rs76256825 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:189700968G>C ENST00000319332.5 - 8 1427 LEPREL1_ENST00000427335.2_Intron NM_018192.3 NP_060662.2 Q8IVL5 P3H2_HUMAN leprecan-like 1 NA NA collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|peptidyl-proline hydroxylation (GO:0019511) basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794) iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797) NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5) 41 all_cancers(143;4.01e-10)|Ovarian(172;0.0925) Lung(62;4.35e-05) GBM - Glioblastoma multiforme(93;0.02) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) ATTTGTCATTGAATAACGATG 0.363 NA G||| 56 0.0111821 0.0 0.0447 5008 , , NA 19844 0.0238 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 G , 5,4401 9.9+/-24.2 0,5,2198 75 73 74 , 2.8 0 3 dbSNP_132 74 5,8593 5.0+/-18.6 0,5,4294 no intron,intron LEPREL1 NM_001134418.1,NM_018192.3 , 0,10,6492 CC,CG,GG 0.0582,0.1135,0.0769 , , 189700968 10,12994 2203 4299 6502 SO:0001627 intron_variant CCDS3294.1, CCDS46981.1 3q29 2014-01-28 ENSG00000090530 ENSG00000090530 55214 1.14.11.7 19317 protein-coding gene gene with protein product prolyl 3-hydroxylase 2 610341 NA 15063763, 21885030 Standard NM_018192 NM_018192 NA Approved FLJ10718, MLAT4, P3H2 uc011bsk.2 Q8IVL5 OTTHUMG00000156312 ENST00000319332.5:c.1230-39C>G chr3.hg19:g.189700968G>C NA B3KPK0|B3KWI9|D3DNV8|Q9NVI2 hg19 CCDS3294.1 0.02 4.790751 ATTxAAT COVERED NOVEL LEPREL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000343855.1 2 8.426568 KEEP 0 0 0 28 933 GG 0.999997 0.999997 0 - 7 60 276 0 0 18.986715 128 60 4672 172 ENST00000319332.5 0.051852 1 CLDN1 9076 __UNKNOWN__ __UNKNOWN__ 3 190023552 190023552 __UNKNOWN__ 3'UTR SNP T T C rs8298 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:190023552T>C ENST00000295522.3 - 0 3418 NM_021101.4 NP_066924.1 O95832 CLD1_HUMAN claudin 1 NA NA calcium-independent cell-cell adhesion (GO:0016338)|cell adhesion (GO:0007155)|cell-cell junction organization (GO:0045216)|establishment of skin barrier (GO:0061436)|viral process (GO:0016032) apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923) identical protein binding (GO:0042802)|structural molecule activity (GO:0005198) lung(9) 9 all_cancers(143;2.95e-10)|Ovarian(172;0.0512) Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05) GBM - Glioblastoma multiforme(93;0.015) TACAAATTCCTATTATAAAAC 0.264 NA C||| 3612 0.721246 0.9357 0.6138 5008 , , NA 17911 0.8036 NA 0.6034 False NA ,,, NA NA NA 2504 0.544 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF101051 CCDS3295.1 3q28-q29 2008-07-18 ENSG00000163347 ENSG00000163347 9076 Claudins 2032 protein-coding gene gene with protein product senescence-associated epithelial membrane protein 1 603718 NA 10828592, 9892664 Standard NM_021101 NM_021101 NA Approved SEMP1, ILVASC uc003fsh.3 O95832 OTTHUMG00000156214 ENST00000295522.3:c.*2514A>G chr3.hg19:g.190023552T>C NA hg19 CCDS3295.1 0.02 6.731115 TCCxATT COVERED NOVEL CLDN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000343516.2 2 8.157748 KEEP 0 1 34 39 1199 TT 1 1 0 - 19 60 699 0 0 52.330399 167 60 6177 283 ENST00000295522.3 0.102151 1 CLDN1 9076 __UNKNOWN__ __UNKNOWN__ 3 190023837 190023837 __UNKNOWN__ 3'UTR SNP A A G rs8798 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:190023837A>G ENST00000295522.3 - 0 3133 NM_021101.4 NP_066924.1 O95832 CLD1_HUMAN claudin 1 NA NA calcium-independent cell-cell adhesion (GO:0016338)|cell adhesion (GO:0007155)|cell-cell junction organization (GO:0045216)|establishment of skin barrier (GO:0061436)|viral process (GO:0016032) apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923) identical protein binding (GO:0042802)|structural molecule activity (GO:0005198) lung(9) 9 all_cancers(143;2.95e-10)|Ovarian(172;0.0512) Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05) GBM - Glioblastoma multiforme(93;0.015) catAAGACACAGTGGCTGACT 0.393 NA G||| 3577 0.714257 0.913 0.611 5008 , , NA 18893 0.8006 NA 0.6034 False NA ,,, NA NA NA 2504 0.544 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF101051 CCDS3295.1 3q28-q29 2008-07-18 ENSG00000163347 ENSG00000163347 9076 Claudins 2032 protein-coding gene gene with protein product senescence-associated epithelial membrane protein 1 603718 NA 10828592, 9892664 Standard NM_021101 NM_021101 NA Approved SEMP1, ILVASC uc003fsh.3 O95832 OTTHUMG00000156214 ENST00000295522.3:c.*2229T>C chr3.hg19:g.190023837A>G NA hg19 CCDS3295.1 0.02 7.782511 CACxGTG COVERED NOVEL CLDN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000343516.2 0 6.921442 KEEP 0 0 0 23 738 AA 0.999892 0.999892 0 - 11 60 372 0 0 23.914574 191 60 7125 263 ENST00000295522.3 0.054455 1 CLDN1 9076 __UNKNOWN__ __UNKNOWN__ 3 190024057 190024057 __UNKNOWN__ 3'UTR SNP C C T rs1364722 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:190024057C>T ENST00000295522.3 - 0 2913 NM_021101.4 NP_066924.1 O95832 CLD1_HUMAN claudin 1 NA NA calcium-independent cell-cell adhesion (GO:0016338)|cell adhesion (GO:0007155)|cell-cell junction organization (GO:0045216)|establishment of skin barrier (GO:0061436)|viral process (GO:0016032) apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923) identical protein binding (GO:0042802)|structural molecule activity (GO:0005198) lung(9) 9 all_cancers(143;2.95e-10)|Ovarian(172;0.0512) Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05) GBM - Glioblastoma multiforme(93;0.015) CAGAAAGCATCGGGCCATACT 0.378 NA T||| 3508 0.700479 0.8601 0.6095 5008 , , NA 19614 0.8026 NA 0.6034 False NA ,,, NA NA NA 2504 0.544 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF101051 CCDS3295.1 3q28-q29 2008-07-18 ENSG00000163347 ENSG00000163347 9076 Claudins 2032 protein-coding gene gene with protein product senescence-associated epithelial membrane protein 1 603718 NA 10828592, 9892664 Standard NM_021101 NM_021101 NA Approved SEMP1, ILVASC uc003fsh.3 O95832 OTTHUMG00000156214 ENST00000295522.3:c.*2009G>A chr3.hg19:g.190024057C>T NA hg19 CCDS3295.1 0.02 4.666214 CATxGGG COVERED NOVEL CLDN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000343516.2 0 5.417385 KEEP 0 0 0 18 616 CC 0.999859 0.999856 0 - 9 60 330 0 0 23.587644 106 60 3845 152 ENST00000295522.3 0.078261 0.999997 CLDN1 9076 __UNKNOWN__ __UNKNOWN__ 3 190024103 190024103 __UNKNOWN__ 3'UTR SNP T T C rs1895708 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:190024103T>C ENST00000295522.3 - 0 2867 NM_021101.4 NP_066924.1 O95832 CLD1_HUMAN claudin 1 NA NA calcium-independent cell-cell adhesion (GO:0016338)|cell adhesion (GO:0007155)|cell-cell junction organization (GO:0045216)|establishment of skin barrier (GO:0061436)|viral process (GO:0016032) apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923) identical protein binding (GO:0042802)|structural molecule activity (GO:0005198) lung(9) 9 all_cancers(143;2.95e-10)|Ovarian(172;0.0512) Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05) GBM - Glioblastoma multiforme(93;0.015) GAATCTTATTTGTTTAGTGCA 0.368 NA C||| 3516 0.702077 0.8669 0.6081 5008 , , NA 21513 0.8036 NA 0.6024 False NA ,,, NA NA NA 2504 0.544 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF101051 CCDS3295.1 3q28-q29 2008-07-18 ENSG00000163347 ENSG00000163347 9076 Claudins 2032 protein-coding gene gene with protein product senescence-associated epithelial membrane protein 1 603718 NA 10828592, 9892664 Standard NM_021101 NM_021101 NA Approved SEMP1, ILVASC uc003fsh.3 O95832 OTTHUMG00000156214 ENST00000295522.3:c.*1963A>G chr3.hg19:g.190024103T>C NA hg19 CCDS3295.1 0.02 4.329472 ATTxGTT COVERED NOVEL CLDN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000343516.2 1 6.918456 KEEP 0 0 0 23 717 TT 0.999892 0.999892 0 - 12 60 441 0 0 31.967406 130 60 4727 190 ENST00000295522.3 0.084507 1 CLDN1 9076 __UNKNOWN__ __UNKNOWN__ 3 190024188 190024188 __UNKNOWN__ 3'UTR SNP G G A rs2204226 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:190024188G>A ENST00000295522.3 - 0 2782 NM_021101.4 NP_066924.1 O95832 CLD1_HUMAN claudin 1 NA NA calcium-independent cell-cell adhesion (GO:0016338)|cell adhesion (GO:0007155)|cell-cell junction organization (GO:0045216)|establishment of skin barrier (GO:0061436)|viral process (GO:0016032) apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923) identical protein binding (GO:0042802)|structural molecule activity (GO:0005198) lung(9) 9 all_cancers(143;2.95e-10)|Ovarian(172;0.0512) Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05) GBM - Glioblastoma multiforme(93;0.015) CATTTTTTTTGTTTTCAAACA 0.323 NA A||| 3490 0.696885 0.848 0.6052 5008 , , NA 22743 0.8036 NA 0.6034 False NA ,,, NA NA NA 2504 0.544 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF101051 CCDS3295.1 3q28-q29 2008-07-18 ENSG00000163347 ENSG00000163347 9076 Claudins 2032 protein-coding gene gene with protein product senescence-associated epithelial membrane protein 1 603718 NA 10828592, 9892664 Standard NM_021101 NM_021101 NA Approved SEMP1, ILVASC uc003fsh.3 O95832 OTTHUMG00000156214 ENST00000295522.3:c.*1878C>T chr3.hg19:g.190024188G>A NA hg19 CCDS3295.1 0.02 6.654174 TTTxTTT COVERED NOVEL CLDN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000343516.2 3 10.534535 KEEP 0 0 0 35 1260 GG 0.999999 0.999999 0 - 12 60 442 0 0 31.028296 160 60 6113 254 ENST00000295522.3 0.069767 1 CLDN1 9076 __UNKNOWN__ __UNKNOWN__ 3 190024457 190024457 __UNKNOWN__ 3'UTR SNP A A G rs9290928 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:190024457A>G ENST00000295522.3 - 0 2513 NM_021101.4 NP_066924.1 O95832 CLD1_HUMAN claudin 1 NA NA calcium-independent cell-cell adhesion (GO:0016338)|cell adhesion (GO:0007155)|cell-cell junction organization (GO:0045216)|establishment of skin barrier (GO:0061436)|viral process (GO:0016032) apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923) identical protein binding (GO:0042802)|structural molecule activity (GO:0005198) lung(9) 9 all_cancers(143;2.95e-10)|Ovarian(172;0.0512) Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05) GBM - Glioblastoma multiforme(93;0.015) ccagacaccaatgccaacacc 0.423 NA G||| 3511 0.701078 0.8601 0.611 5008 , , NA 23891 0.8036 NA 0.6044 False NA ,,, NA NA NA 2504 0.544 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF101051 CCDS3295.1 3q28-q29 2008-07-18 ENSG00000163347 ENSG00000163347 9076 Claudins 2032 protein-coding gene gene with protein product senescence-associated epithelial membrane protein 1 603718 NA 10828592, 9892664 Standard NM_021101 NM_021101 NA Approved SEMP1, ILVASC uc003fsh.3 O95832 OTTHUMG00000156214 ENST00000295522.3:c.*1609T>C chr3.hg19:g.190024457A>G NA hg19 CCDS3295.1 0.02 7.421356 CCAxTGC COVERED NOVEL CLDN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000343516.2 4 2.478351 KEEP 0 2 74 34 1061 AA 0.999999 0.999999 0 - 15 60 570 0 0 41.478719 172 60 6337 266 ENST00000295522.3 0.080214 1 CLDN1 9076 __UNKNOWN__ __UNKNOWN__ 3 190024856 190024856 __UNKNOWN__ 3'UTR SNP G G A rs1060679 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:190024856G>A ENST00000295522.3 - 0 2114 NM_021101.4 NP_066924.1 O95832 CLD1_HUMAN claudin 1 NA NA calcium-independent cell-cell adhesion (GO:0016338)|cell adhesion (GO:0007155)|cell-cell junction organization (GO:0045216)|establishment of skin barrier (GO:0061436)|viral process (GO:0016032) apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923) identical protein binding (GO:0042802)|structural molecule activity (GO:0005198) lung(9) 9 all_cancers(143;2.95e-10)|Ovarian(172;0.0512) Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05) GBM - Glioblastoma multiforme(93;0.015) TTCAAAGAATGAGAGTAATAT 0.343 NA G||| 678 0.135383 0.1566 0.1556 5008 , , NA 21927 0.129 NA 0.1382 False NA ,,, NA NA NA 2504 0.0961 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF101051 CCDS3295.1 3q28-q29 2008-07-18 ENSG00000163347 ENSG00000163347 9076 Claudins 2032 protein-coding gene gene with protein product senescence-associated epithelial membrane protein 1 603718 NA 10828592, 9892664 Standard NM_021101 NM_021101 NA Approved SEMP1, ILVASC uc003fsh.3 O95832 OTTHUMG00000156214 ENST00000295522.3:c.*1210C>T chr3.hg19:g.190024856G>A NA hg19 CCDS3295.1 0.02 3.977454 AATxAGA COVERED NOVEL CLDN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000343516.2 0 4.213693 KEEP 0 0 0 14 489 GG 0.995343 0.995343 0 - 14 60 499 0 0 36.464152 134 60 4999 173 ENST00000295522.3 0.094595 1 IL1RAP 3556 __UNKNOWN__ __UNKNOWN__ 3 190367895 190367895 __UNKNOWN__ Intron SNP G G A rs7627498 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:190367895G>A ENST00000317757.3 + 11 1551 IL1RAP_ENST00000443369.2_Intron|IL1RAP_ENST00000072516.3_3'UTR|IL1RAP_ENST00000447382.1_3'UTR|IL1RAP_ENST00000412504.2_3'UTR NM_001167931.1 NP_001161403.1 Q9NPH3 IL1AP_HUMAN interleukin 1 receptor accessory protein NA NA immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-2 biosynthetic process (GO:0042094)|protein complex assembly (GO:0006461) extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886) interleukin-1 receptor activity (GO:0004908)|signal transducer activity (GO:0004871) NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 20 all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21) Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06) GBM - Glioblastoma multiforme(93;0.00851) gtatgtatatGACTTTAAATA 0.279 NA G||| 712 0.142173 0.2337 0.0764 5008 , , NA 14205 0.2579 NA 0.0189 False NA ,,, NA NA NA 2504 0.0726 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB006537 CCDS3298.1, CCDS46982.1, CCDS54696.1 3q28 2013-01-11 ENSG00000196083 ENSG00000196083 3556 Interleukins and interleukin receptors, Immunoglobulin superfamily / Immunoglobulin-like domain containing 5995 protein-coding gene gene with protein product 602626 NA 9479509, 9065432 Standard NM_002182 NA Approved IL-1RAcP, IL1R3, C3orf13 uc003fsq.3 Q9NPH3 OTTHUMG00000156211 ENST00000317757.3:c.1345+4264G>A chr3.hg19:g.190367895G>A NA B1NLD0|D3DNW0|O14915|Q86WJ7 hg19 CCDS54696.1 0.02 4.349344 TATxACT COVERED NOVEL IL1RAP-006 PUTATIVE basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000343502.1 2 7.825707 KEEP 0 0 0 26 931 GG 0.999957 0.999955 0 + 7 60 247 0 0 16.537714 110 60 4146 168 ENST00000317757.3 0.059829 0.999998 CCDC50 152137 __UNKNOWN__ __UNKNOWN__ 3 191047208 191047208 __UNKNOWN__ 5'UTR SNP T T A rs189322853 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:191047208T>A ENST00000392455.3 + 0 343 CCDC50_ENST00000392456.3_5'UTR|UTS2B_ENST00000340524.5_Intron|UTS2B_ENST00000490825.1_5'UTR NM_174908.3 NP_777568.1 Q8IVM0 CCD50_HUMAN coiled-coil domain containing 50 NA NA cytoplasm (GO:0005737) ubiquitin protein ligase binding (GO:0031625) endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1) 23 all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221) LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06) GBM - Glioblastoma multiforme(46;0.000136) ATATTTGGTATCGATTGGGGC 0.716 NA T||| 6 0.00119808 0.0 0.0 5008 , , NA 10576 0.006 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AJ416916 CCDS33912.1, CCDS33913.1 3q28 2010-12-24 2005-12-23 ENSG00000152492 ENSG00000152492 152137 18111 protein-coding gene gene with protein product 611051 deafness, autosomal dominant 44 C3orf6, DFNA44 NA 16803894, 17503326 Standard NM_174908 NM_178335 NA Approved Ymer uc003fsv.3 Q8IVM0 OTTHUMG00000156177 ENST00000392455.3:c.-256T>A chr3.hg19:g.191047208T>A NA Q86VH7 hg19 CCDS33913.1 0.02 7.470813 GTAxCGA COVERED NOVEL CCDC50-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000343315.1 1 63.181542 KEEP 0 0 0 210 6513 TT 1 1 0 + 7 60 247 0 0 14.221817 240 60 8278 630 ENST00000392455.3 0.02834 1 CCDC50 152137 __UNKNOWN__ __UNKNOWN__ 3 191107192 191107192 __UNKNOWN__ Intron SNP A A G rs436393 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:191107192A>G ENST00000392455.3 + 10 1392 CCDC50_ENST00000392456.3_Intron NM_174908.3 NP_777568.1 Q8IVM0 CCD50_HUMAN coiled-coil domain containing 50 NA NA cytoplasm (GO:0005737) ubiquitin protein ligase binding (GO:0031625) endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1) 23 all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221) LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06) GBM - Glioblastoma multiforme(46;0.000136) TTCATTTCACAAGAAAATGTT 0.388 NA G||| 1779 0.355232 0.146 0.4236 5008 , , NA 20320 0.3125 NA 0.505 False NA ,,, NA NA NA 2504 0.4796 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ416916 CCDS33912.1, CCDS33913.1 3q28 2010-12-24 2005-12-23 ENSG00000152492 ENSG00000152492 152137 18111 protein-coding gene gene with protein product 611051 deafness, autosomal dominant 44 C3orf6, DFNA44 NA 16803894, 17503326 Standard NM_174908 NM_178335 NA Approved Ymer uc003fsv.3 Q8IVM0 OTTHUMG00000156177 ENST00000392455.3:c.795-93A>G chr3.hg19:g.191107192A>G NA Q86VH7 hg19 CCDS33913.1 0.02 3.496254 CACxAGA COVERED NOVEL CCDC50-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000343315.1 0 3.6103 KEEP 0 0 0 12 364 AA 0.993634 0.993628 0 + 5 60 163 0 0 9.820302 107 60 3903 126 ENST00000392455.3 0.044643 0.999995 CCDC50 152137 __UNKNOWN__ __UNKNOWN__ 3 191114359 191114359 __UNKNOWN__ 3'UTR SNP C C T rs2293379 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:191114359C>T ENST00000392455.3 + 0 6329 NM_174908.3 NP_777568.1 Q8IVM0 CCD50_HUMAN coiled-coil domain containing 50 NA NA cytoplasm (GO:0005737) ubiquitin protein ligase binding (GO:0031625) endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1) 23 all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221) LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06) GBM - Glioblastoma multiforme(46;0.000136) TCCAAAGGTTCTGTTATGCAG 0.363 NA C||| 496 0.0990415 0.003 0.1081 5008 , , NA 21025 0.2242 NA 0.0388 False NA ,,, NA NA NA 2504 0.1554 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ416916 CCDS33912.1, CCDS33913.1 3q28 2010-12-24 2005-12-23 ENSG00000152492 ENSG00000152492 152137 18111 protein-coding gene gene with protein product 611051 deafness, autosomal dominant 44 C3orf6, DFNA44 NA 16803894, 17503326 Standard NM_174908 NM_178335 NA Approved Ymer uc003fsv.3 Q8IVM0 OTTHUMG00000156177 ENST00000392455.3:c.*4810C>T chr3.hg19:g.191114359C>T NA Q86VH7 hg19 CCDS33913.1 0.02 6.46908 GTTxTGT COVERED NOVEL CCDC50-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000343315.1 3 11.738013 KEEP 0 0 0 39 1381 CC 1 1 0 + 11 60 397 0 0 27.585883 148 60 5546 227 ENST00000392455.3 0.069182 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 191647984 191647984 __UNKNOWN__ IGR SNP C C A rs7650674 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:191647984C>A NA NA Y_RNA (288771 upstream) : AC026320.1 (45758 downstream) NA NA NA tgcaatggagcgatcccagct 0.453 NA C||| 4823 0.963059 0.997 0.9769 5008 , , NA 10642 1.0 NA 0.9205 False NA ,,, NA NA NA 2504 0.9131 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.191647984C>A NA hg19 0.02 -0.026313 GAGxGAT UNCOVERED NOVEL 0 8 2.70869 KEEP 3 0 0 9 307 CC 0 0 0 2 49 75 0 0 7.625531 1 22 26 16 0.666667 0 MB21D2 151963 __UNKNOWN__ __UNKNOWN__ 3 192516430 192516430 __UNKNOWN__ Silent SNP C C T rs3732388 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:192516430C>T ENST00000392452.2 - 2 1541 c.1221G>A c.(1219-1221)ccG>ccA p.P407P NM_178496.3 NP_848591.2 Q8IYB1 M21D2_HUMAN Mab-21 domain containing 2 407 NA protein complex binding (GO:0032403) endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 31 AGTGCTCTGCCGGGTCTGAGC 0.592 NA C||| 338 0.067492 0.0038 0.0937 5008 , , NA 18930 0.1647 NA 0.0189 False NA ,,, NA NA NA 2504 0.0849 NA NA NA NA 0 C 60,4346 58.1+/-94.6 1,58,2144 49 45 46 1221 -10.5 0 3 dbSNP_107 46 184,8416 82.3+/-144.9 1,182,4117 no coding-synonymous MB21D2 NM_178496.3 2,240,6261 TT,TC,CC 2.1395,1.3618,1.8761 407/492 192516430 244,12762 2203 4300 6503 SO:0001819 synonymous_variant AK056276 CCDS3302.2 3q28-q29 2011-02-23 2011-02-23 2011-02-23 ENSG00000180611 ENSG00000180611 151963 30438 protein-coding gene gene with protein product chromosome 3 open reading frame 59 C3orf59 NA 12477932 Standard NM_178496 NM_178496 NA Approved uc011bsp.2 Q8IYB1 OTTHUMG00000155768 ENST00000392452.2:c.1221G>A chr3.hg19:g.192516430C>T NA Q86VD8 hg19 CCDS3302.2 0.02 8.120552 TGCxGGG COVERED NOVEL MB21D2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000341543.1 3 11.13575 KEEP 0 0 0 37 1270 CC 1 1 0 - 7 60 259 0 0 15.467553 236 60 8097 306 ENST00000392452.2 0.028807 1 ATP13A4 84239 __UNKNOWN__ __UNKNOWN__ 3 193209018 193209018 __UNKNOWN__ Intron SNP G G A rs5015036 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:193209018G>A ENST00000342695.4 - 6 926 ATP13A4_ENST00000295548.3_Intron|ATP13A4_ENST00000392443.3_Intron NM_032279.2 NP_115655.2 Q4VNC1 AT134_HUMAN ATPase type 13A4 NA NA integral component of membrane (GO:0016021) ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) TATACTCTATGTGAAGTTACT 0.338 NA A||| 887 0.177117 0.1785 0.1902 5008 , , NA 18685 0.3403 NA 0.0944 False NA ,,, NA NA NA 2504 0.0828 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK095277 CCDS3304.2 3q29 2010-04-20 ENSG00000127249 ENSG00000127249 84239 ATPases / P-type 25422 protein-coding gene gene with protein product 609556 NA 14702039, 12975309 Standard NM_032279 XM_005247829 NA Approved DKFZp761I1011, FLJ37958 uc003ftd.3 Q4VNC1 OTTHUMG00000074067 ENST00000342695.4:c.603+99C>T chr3.hg19:g.193209018G>A NA B7WPC7|Q6UY23|Q8N1Q9|Q9H043 hg19 CCDS3304.2 0.02 3.832957 TATxTGA COVERED NOVEL ATP13A4-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000157244.4 1 5.116381 KEEP 0 0 0 17 593 GG 0.999366 0.999365 0 - 8 60 280 0 0 19.087808 111 60 4204 149 ENST00000342695.4 0.067227 0.999998 ATP13A3 79572 __UNKNOWN__ __UNKNOWN__ 3 194124427 194124427 __UNKNOWN__ 3'UTR SNP C C T rs72607888 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:194124427C>T ENST00000439040.1 - 0 6693 ATP13A3_ENST00000256031.4_3'UTR Q9H7F0 AT133_HUMAN ATPase type 13A3 NA NA integral component of membrane (GO:0016021)|membrane (GO:0016020) ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872) NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 24 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) TGGTAACCTACGAGAGAAGAC 0.333 NA C||| 572 0.114217 0.0008 0.1037 5008 , , NA 15851 0.4623 NA 0.006 False NA ,,, NA NA NA 2504 0.0276 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ306929 CCDS43187.1 3q29 2010-04-20 ENSG00000133657 ENSG00000133657 79572 ATPases / P-type 24113 protein-coding gene gene with protein product ATPase family homolog up regulated in senescence cells 610232 NA 11867234 Standard NM_024524 NM_024524 NA Approved AFURS1 uc003fty.4 Q9H7F0 OTTHUMG00000156034 ENST00000439040.1:c.*2221G>A chr3.hg19:g.194124427C>T NA Q8NC11|Q96KS1 hg19 CCDS43187.1 0.02 6.750735 CTAxGAG COVERED NOVEL ATP13A3-001 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000342799.2 1 11.7371 KEEP 0 0 0 39 1352 CC 1 1 0 - 10 60 363 0 0 24.818045 151 60 5424 243 ENST00000439040.1 0.062112 1 LINC00884 401106 __UNKNOWN__ __UNKNOWN__ 3 194219732 194219732 __UNKNOWN__ RNA SNP G G A rs2002762 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:194219732G>A ENST00000448892.1 + 0 1471 AC108676.1_ENST00000455557.2_RNA|LINC00884_ENST00000437597.1_RNA NR_033929.1 long intergenic non-protein coding RNA 884 NA NA NA ctgagatcgcgccattgcatt 0.488 NA G||| 1689 0.33726 0.2277 0.2853 5008 , , NA 17118 0.625 NA 0.1809 False NA ,,, NA NA NA 2504 0.3865 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA 3q29 2013-05-17 ENSG00000233058 ENSG00000233058 401106 Long non-coding RNAs 48570 non-coding RNA RNA, long non-coding NA Standard NR_033929 NA Approved OTTHUMG00000156037 ENST00000448892.1: chr3.hg19:g.194219732G>A NA hg19 0.02 -0.394743 CGCxCCA COVERED NOVEL LINC00884-001 KNOWN basic|exp_conf antisense NA antisense OTTHUMT00000342809.1 12 21.366463 KEEP 0 0 0 71 2365 GG 1 0.92664 0 + 7 60 253 0 0 20.194196 38 60 1274 162 ENST00000448892.1 0.155556 0.92664 TMEM44 93109 __UNKNOWN__ __UNKNOWN__ 3 194308889 194308889 __UNKNOWN__ 5'UTR SNP A A G rs3818946 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:194308889A>G ENST00000476750.1 - 0 658 TMEM44_ENST00000347147.4_3'UTR|TMEM44_ENST00000392432.2_3'UTR|TMEM44-AS1_ENST00000419571.1_RNA|TMEM44_ENST00000273580.7_3'UTR|TMEM44-AS1_ENST00000447982.1_RNA|TMEM44_ENST00000381975.3_3'UTR|TMEM44-AS1_ENST00000453671.1_RNA Q2T9K0 TMM44_HUMAN transmembrane protein 44 NA NA integral component of membrane (GO:0016021) breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|urinary_tract(1) 8 all_cancers(143;1.41e-08)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;9.06e-06) CACATTTGCTATCTGTTAGGT 0.537 NA A||| 1476 0.294728 0.4221 0.2493 5008 , , NA 21130 0.2341 NA 0.1849 False NA ,,, NA NA NA 2504 0.3303 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AL833026 CCDS3308.1, CCDS33921.1, CCDS3308.2, CCDS54698.1, CCDS54699.1 3q29 2005-08-16 ENSG00000145014 ENSG00000145014 93109 25120 protein-coding gene gene with protein product NA Standard NM_138399 NM_138399 NA Approved DKFZp686O18124 uc010hzn.3 Q2T9K0 OTTHUMG00000156023 ENST00000476750.1:c.-288T>C chr3.hg19:g.194308889A>G NA A1L3V7|B7ZLZ5|B7ZLZ6|C9JJ62|E9PGA9|Q0P6F7|Q6ZT47|Q8IXR1|Q8N4G3 hg19 0.02 8.693173 GCTxTCT COVERED NOVEL TMEM44-014 PUTATIVE basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000342762.1 1 14.141671 KEEP 0 0 0 47 1452 AA 1 1 0 - 7 60 267 0 0 16.253495 237 60 8680 355 ENST00000476750.1 0.028689 1 TMEM44 93109 __UNKNOWN__ __UNKNOWN__ 3 194309210 194309210 __UNKNOWN__ 5'UTR SNP G G A rs3732473 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:194309210G>A ENST00000476750.1 - 0 337 TMEM44_ENST00000347147.4_3'UTR|TMEM44_ENST00000473092.1_3'UTR|TMEM44_ENST00000392432.2_3'UTR|TMEM44-AS1_ENST00000419571.1_RNA|TMEM44_ENST00000273580.7_3'UTR|TMEM44-AS1_ENST00000447982.1_RNA|TMEM44_ENST00000381975.3_3'UTR|TMEM44-AS1_ENST00000453671.1_RNA Q2T9K0 TMM44_HUMAN transmembrane protein 44 NA NA integral component of membrane (GO:0016021) breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|urinary_tract(1) 8 all_cancers(143;1.41e-08)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;9.06e-06) GTTACTGAACGAACTCCTGAC 0.577 NA A||| 966 0.192891 0.1952 0.1744 5008 , , NA 19595 0.2321 NA 0.1093 False NA ,,, NA NA NA 2504 0.2485 NA NA NA NA 0 A ,,, 863,3543 744.2+/-411.5 77,709,1417 68 62 64 ,,, -0.6 0 3 dbSNP_107 64 999,7601 772.2+/-407.7 68,863,3369 no utr-3,utr-3,utr-3,utr-3 TMEM44 NM_001011655.2,NM_001166305.1,NM_001166306.1,NM_138399.4 ,,, 145,1572,4786 AA,AG,GG 11.6163,19.5869,14.3165 ,,, ,,, 194309210 1862,11144 2203 4300 6503 SO:0001623 5_prime_UTR_variant AL833026 CCDS3308.1, CCDS33921.1, CCDS3308.2, CCDS54698.1, CCDS54699.1 3q29 2005-08-16 ENSG00000145014 ENSG00000145014 93109 25120 protein-coding gene gene with protein product NA Standard NM_138399 NM_138399 NA Approved DKFZp686O18124 uc010hzn.3 Q2T9K0 OTTHUMG00000156023 ENST00000476750.1:c.-609C>T chr3.hg19:g.194309210G>A NA A1L3V7|B7ZLZ5|B7ZLZ6|C9JJ62|E9PGA9|Q0P6F7|Q6ZT47|Q8IXR1|Q8N4G3 hg19 0.02 1.942122 AACxAAC COVERED NOVEL TMEM44-014 PUTATIVE basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000342762.1 0 5.992469 KEEP 0 0 0 20 650 GG 0.999863 0.999485 0 - 5 60 187 0 0 12.829235 80 60 2685 115 ENST00000476750.1 0.058824 0.999622 TMEM44 93109 __UNKNOWN__ __UNKNOWN__ 3 194325006 194325006 __UNKNOWN__ Intron SNP A A G rs732124 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:194325006A>G ENST00000347147.4 - 9 1286 TMEM44_ENST00000473092.1_Intron|TMEM44_ENST00000392432.2_Intron|TMEM44_ENST00000273580.7_Intron|TMEM44_ENST00000381975.3_Intron NM_001011655.2|NM_001166306.1 NP_001011655.1|NP_001159778.1 Q2T9K0 TMM44_HUMAN transmembrane protein 44 NA NA integral component of membrane (GO:0016021) breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|urinary_tract(1) 8 all_cancers(143;1.41e-08)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;9.06e-06) AGCAGGCAACAGCCGTGTACC 0.632 NA A||| 1136 0.226837 0.0522 0.2882 5008 , , NA 17168 0.1984 NA 0.4642 False NA ,,, NA NA NA 2504 0.2045 NA NA NA NA 0 A ,,, 469,3905 31,407,1749 29 22 25 ,,, -5.5 0 3 dbSNP_86 25 3646,4934 811,2024,1455 no intron,intron,intron,intron TMEM44 NM_001011655.2,NM_001166305.1,NM_001166306.1,NM_138399.4 ,,, 842,2431,3204 GG,GA,AA 42.4942,10.7225,31.7662 ,,, ,,, 194325006 4115,8839 2187 4290 6477 SO:0001627 intron_variant AL833026 CCDS3308.1, CCDS33921.1, CCDS3308.2, CCDS54698.1, CCDS54699.1 3q29 2005-08-16 ENSG00000145014 ENSG00000145014 93109 25120 protein-coding gene gene with protein product NA Standard NM_138399 NM_138399 NA Approved DKFZp686O18124 uc010hzn.3 Q2T9K0 OTTHUMG00000156023 ENST00000347147.4:c.1176+9T>C chr3.hg19:g.194325006A>G NA A1L3V7|B7ZLZ5|B7ZLZ6|C9JJ62|E9PGA9|Q0P6F7|Q6ZT47|Q8IXR1|Q8N4G3 hg19 CCDS33921.1 0.02 7.258873 AACxGCC COVERED NOVEL TMEM44-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000342749.1 0 10.598765 KEEP 0 2 65 58 1786 AA 1 1 0 - 7 60 265 0 0 17.664739 138 60 5102 262 ENST00000347147.4 0.048276 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 194406609 194406609 __UNKNOWN__ IGR SNP G G T rs115774219 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:194406609G>T NA NA LSG1 (13403 upstream) : FAM43A (12 downstream) NA NA NA CCTCCCGGACGGCAAGGATGT 0.672 NA G||| 21 0.00419329 0.0 0.0231 5008 , , NA 14071 0.005 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.194406609G>T NA hg19 0.02 2.338291 GACxGCA COVERED NOVEL 0 0 10.532647 KEEP 0 0 0 35 1137 GG 0.999999 0.998199 0 5 60 190 0 0 13.440046 69 60 2270 128 0.067568 0.9982 XXYLT1 152002 __UNKNOWN__ __UNKNOWN__ 3 194842785 194842785 __UNKNOWN__ Intron SNP C C G rs60922537 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:194842785C>G ENST00000310380.6 - 3 894 XXYLT1_ENST00000437101.1_Intron|XXYLT1_ENST00000356740.5_Missense_Mutation_p.R46P|XXYLT1_ENST00000355729.4_Intron|XXYLT1_ENST00000429994.1_Intron NM_152531.4 NP_689744.3 Q8NBI6 XXLT1_HUMAN xyloside xylosyltransferase 1 NA NA endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) transferase activity, transferring pentosyl groups (GO:0016763) NA ccaagaccaacgtgcccactg 0.493 NA G||| 1700 0.339457 0.5151 0.2305 5008 , , NA 19891 0.4603 NA 0.1461 False NA ,,, NA NA NA 2504 0.2536 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK075551 CCDS43188.1 3q29 2013-02-22 2011-10-19 2011-10-19 ENSG00000173950 ENSG00000173950 152002 Glycosyltransferase family 8 domain containing 26639 protein-coding gene gene with protein product 614552 chromosome 3 open reading frame 21 C3orf21 NA 22117070 Standard NM_152531 NM_152531 NA Approved FLJ35155 uc003fum.4 Q8NBI6 OTTHUMG00000155915 ENST00000310380.6:c.785+34392G>C chr3.hg19:g.194842785C>G NA D3DNW5|Q8NAL3|Q8WV03|Q96ME0 hg19 CCDS43188.1 0.02 9.402684 CAAxGTG COVERED 707 0.32371794871794873 254 0.516260162601626 80 0.22099447513812154 264 0.46153846153846156 109 0.1437994722955145 G 3.356 -0.131409 0.06753 . . ENSG00000173950 ENST00000356740 . . . 1.27 -2.12 0.07165 . . . . . T 0.00012 0.0000 . . . 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.44345 -0.9334 6 0.59425 D 0.04 . 3.6884 0.08336 0.3376:0.4155:0.2468:0.0 rs60922537;rs62290327 46 Q8NBI6-3 . P 46 . ENSP00000349179:R46P R - 2 0 C3orf21 196324074 0.001000 0.12720 0.000000 0.03702 0.004000 0.04260 -0.680000 0.05197 -1.504000 0.01810 -1.038000 0.02383 CGT NOVEL XXYLT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000342290.1 3 25.582575 KEEP 0 0 0 85 2968 CC 1 1 0 - 7 60 275 0 0 17.343537 215 60 7651 399 ENST00000310380.6 0.031532 1 XXYLT1 152002 __UNKNOWN__ __UNKNOWN__ 3 194842877 194842877 __UNKNOWN__ Intron SNP A A G rs35896123|rs58370605 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:194842877A>G ENST00000310380.6 - 3 894 XXYLT1_ENST00000437101.1_Intron|XXYLT1_ENST00000356740.5_Silent_p.S15S|XXYLT1_ENST00000355729.4_Intron|XXYLT1_ENST00000429994.1_Intron NM_152531.4 NP_689744.3 Q8NBI6 XXLT1_HUMAN xyloside xylosyltransferase 1 NA NA endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) transferase activity, transferring pentosyl groups (GO:0016763) NA aaggggtgacagagctcttca 0.527 NA G||| 2719 0.542931 0.5983 0.4251 5008 , , NA 18834 0.8323 NA 0.2922 False NA ,,, NA NA NA 2504 0.5112 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK075551 CCDS43188.1 3q29 2013-02-22 2011-10-19 2011-10-19 ENSG00000173950 ENSG00000173950 152002 Glycosyltransferase family 8 domain containing 26639 protein-coding gene gene with protein product 614552 chromosome 3 open reading frame 21 C3orf21 NA 22117070 Standard NM_152531 NM_152531 NA Approved FLJ35155 uc003fum.4 Q8NBI6 OTTHUMG00000155915 ENST00000310380.6:c.785+34300T>C chr3.hg19:g.194842877A>G NA D3DNW5|Q8NAL3|Q8WV03|Q96ME0 hg19 CCDS43188.1 0.02 9.443677 GACxGAG COVERED NOVEL XXYLT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000342290.1 0 17.448304 KEEP 0 0 0 58 1776 AA 1 1 0 - 14 60 496 0 0 34.075802 192 60 7125 317 ENST00000310380.6 0.067961 1 XXYLT1 152002 __UNKNOWN__ __UNKNOWN__ 3 194842911 194842911 __UNKNOWN__ Intron SNP A A G rs12634646 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:194842911A>G ENST00000310380.6 - 3 894 XXYLT1_ENST00000437101.1_Intron|XXYLT1_ENST00000356740.5_Missense_Mutation_p.M4T|XXYLT1_ENST00000355729.4_Intron|XXYLT1_ENST00000429994.1_Intron NM_152531.4 NP_689744.3 Q8NBI6 XXLT1_HUMAN xyloside xylosyltransferase 1 NA NA endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) transferase activity, transferring pentosyl groups (GO:0016763) NA caggacactcatcccattcat 0.502 NA G||| 1946 0.388578 0.5174 0.2767 5008 , , NA 19728 0.5744 NA 0.1899 False NA ,,, NA NA NA 2504 0.3067 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK075551 CCDS43188.1 3q29 2013-02-22 2011-10-19 2011-10-19 ENSG00000173950 ENSG00000173950 152002 Glycosyltransferase family 8 domain containing 26639 protein-coding gene gene with protein product 614552 chromosome 3 open reading frame 21 C3orf21 NA 22117070 Standard NM_152531 NM_152531 NA Approved FLJ35155 uc003fum.4 Q8NBI6 OTTHUMG00000155915 ENST00000310380.6:c.785+34266T>C chr3.hg19:g.194842911A>G NA D3DNW5|Q8NAL3|Q8WV03|Q96ME0 hg19 CCDS43188.1 0.02 4.01804 CTCxTCC COVERED 836 0.38278388278388276 256 0.5203252032520326 100 0.27624309392265195 337 0.5891608391608392 143 0.18865435356200527 G 0.012 -1.671862 0.00758 . . ENSG00000173950 ENST00000356740 . . . 0.801 -1.6 0.08426 . . . . . T 0.00012 0.0000 . . . 0.80722 P 0.0 B 0.06786 0.001 B 0.04013 0.001 T 0.43393 -0.9394 6 0.87932 D 0 . 2.1485 0.03794 0.401:0.3299:0.2691:0.0 rs12634646;rs52835467;rs12634646 4 Q8NBI6-3 . T 4 . ENSP00000349179:M4T M - 2 0 C3orf21 196324200 0.000000 0.05858 0.000000 0.03702 0.005000 0.04900 -0.867000 0.04241 -1.006000 0.03412 -0.378000 0.06908 ATG NOVEL XXYLT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000342290.1 0 7.821367 KEEP 0 0 0 26 769 AA 0.999957 0.999957 0 - 6 60 220 0 0 14.266733 126 60 4503 177 ENST00000310380.6 0.045455 1 XXYLT1 152002 __UNKNOWN__ __UNKNOWN__ 3 194928138 194928138 __UNKNOWN__ Intron SNP A A C rs12495970 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:194928138A>C ENST00000310380.6 - 2 761 XXYLT1_ENST00000429994.1_Intron NM_152531.4 NP_689744.3 Q8NBI6 XXLT1_HUMAN xyloside xylosyltransferase 1 NA NA endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) transferase activity, transferring pentosyl groups (GO:0016763) NA GAAAACAGTGACTTTATTCTA 0.502 NA C||| 1511 0.301717 0.4561 0.2378 5008 , , NA 19611 0.3889 NA 0.1312 False NA ,,, NA NA NA 2504 0.2239 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK075551 CCDS43188.1 3q29 2013-02-22 2011-10-19 2011-10-19 ENSG00000173950 ENSG00000173950 152002 Glycosyltransferase family 8 domain containing 26639 protein-coding gene gene with protein product 614552 chromosome 3 open reading frame 21 C3orf21 NA 22117070 Standard NM_152531 NM_152531 NA Approved FLJ35155 uc003fum.4 Q8NBI6 OTTHUMG00000155915 ENST00000310380.6:c.652+19299T>G chr3.hg19:g.194928138A>C NA D3DNW5|Q8NAL3|Q8WV03|Q96ME0 hg19 CCDS43188.1 0.02 10.830951 GTGxCTT COVERED NOVEL XXYLT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000342290.1 2 34.907457 KEEP 0 0 0 116 3736 AA 1 1 0 - 10 60 346 0 0 20.968944 276 60 9902 518 ENST00000310380.6 0.034965 1 XXYLT1 152002 __UNKNOWN__ __UNKNOWN__ 3 194991022 194991022 __UNKNOWN__ Intron SNP G G C rs62285259 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:194991022G>C ENST00000310380.6 - 1 613 NM_152531.4 NP_689744.3 Q8NBI6 XXLT1_HUMAN xyloside xylosyltransferase 1 NA NA endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) transferase activity, transferring pentosyl groups (GO:0016763) NA ACTCTCCTGGGGGCTGCGCTT 0.582 NA G||| 1923 0.383986 0.3192 0.2637 5008 , , NA 17650 0.6944 NA 0.1968 False NA ,,, NA NA NA 2504 0.4294 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK075551 CCDS43188.1 3q29 2013-02-22 2011-10-19 2011-10-19 ENSG00000173950 ENSG00000173950 152002 Glycosyltransferase family 8 domain containing 26639 protein-coding gene gene with protein product 614552 chromosome 3 open reading frame 21 C3orf21 NA 22117070 Standard NM_152531 NM_152531 NA Approved FLJ35155 uc003fum.4 Q8NBI6 OTTHUMG00000155915 ENST00000310380.6:c.504+261C>G chr3.hg19:g.194991022G>C NA D3DNW5|Q8NAL3|Q8WV03|Q96ME0 hg19 CCDS43188.1 0.02 -0.280729 TGGxGGC COVERED NOVEL XXYLT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000342290.1 0 7.4897 KEEP 0 0 0 25 840 GG 0.999931 0.73962 0 - 4 60 146 0 0 11.27392 28 60 993 72 ENST00000310380.6 0.125 0.739671 ACAP2 23527 __UNKNOWN__ __UNKNOWN__ 3 194997552 194997552 __UNKNOWN__ 3'UTR SNP C C G rs2000051 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:194997552C>G ENST00000326793.6 - 0 5072 NM_012287.5 NP_036419.3 Q15057 ACAP2_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 NA NA cellular response to nerve growth factor stimulus (GO:1990090)|protein localization to endosome (GO:0036010)|regulation of ARF GTPase activity (GO:0032312) endosome membrane (GO:0010008)|membrane (GO:0016020) ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270) cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2) 27 TTTACTCCATCATTTCTGCCA 0.353 NA C||| 1916 0.382588 0.3147 0.2637 5008 , , NA 18830 0.6964 NA 0.1928 False NA ,,, NA NA NA 2504 0.4305 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS33924.1 3q29 2013-01-10 2008-09-22 2008-09-22 ENSG00000114331 ENSG00000114331 23527 ADP-ribosylation factor GTPase activating proteins, Pleckstrin homology (PH) domain containing, Ankyrin repeat domain containing 16469 protein-coding gene gene with protein product 607766 centaurin, beta 2 CENTB2 NA 11050434, 11062263 Standard NM_012287 NM_012287 NA Approved KIAA0041, CNT-B2 uc003fun.4 Q15057 OTTHUMG00000155885 ENST00000326793.6:c.*2505G>C chr3.hg19:g.194997552C>G NA A8K2V4|Q8N5Z8|Q9UQR3 hg19 CCDS33924.1 0.02 12.485636 CATxATT COVERED NOVEL ACAP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000342126.2 0 15.650457 KEEP 0 0 0 52 1794 CC 1 1 0 - 14 60 541 0 0 36.918474 254 60 9641 388 ENST00000326793.6 0.052239 1 ACAP2 23527 __UNKNOWN__ __UNKNOWN__ 3 194997620 194997620 __UNKNOWN__ 3'UTR SNP C C T rs2000052 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:194997620C>T ENST00000326793.6 - 0 5004 NM_012287.5 NP_036419.3 Q15057 ACAP2_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 NA NA cellular response to nerve growth factor stimulus (GO:1990090)|protein localization to endosome (GO:0036010)|regulation of ARF GTPase activity (GO:0032312) endosome membrane (GO:0010008)|membrane (GO:0016020) ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270) cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2) 27 GAAATGTGTACTTGTATTGCT 0.353 NA T||| 2206 0.440495 0.3238 0.3473 5008 , , NA 19592 0.8304 NA 0.2048 False NA ,,, NA NA NA 2504 0.5051 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS33924.1 3q29 2013-01-10 2008-09-22 2008-09-22 ENSG00000114331 ENSG00000114331 23527 ADP-ribosylation factor GTPase activating proteins, Pleckstrin homology (PH) domain containing, Ankyrin repeat domain containing 16469 protein-coding gene gene with protein product 607766 centaurin, beta 2 CENTB2 NA 11050434, 11062263 Standard NM_012287 NM_012287 NA Approved KIAA0041, CNT-B2 uc003fun.4 Q15057 OTTHUMG00000155885 ENST00000326793.6:c.*2437G>A chr3.hg19:g.194997620C>T NA A8K2V4|Q8N5Z8|Q9UQR3 hg19 CCDS33924.1 0.02 8.510794 GTAxTTG COVERED NOVEL ACAP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000342126.2 0 16.554117 KEEP 0 0 0 55 1987 CC 1 1 0 - 16 60 556 0 0 37.613801 228 60 8710 352 ENST00000326793.6 0.065574 1 ACAP2 23527 __UNKNOWN__ __UNKNOWN__ 3 194998493 194998493 __UNKNOWN__ 3'UTR SNP G G T rs7632534 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:194998493G>T ENST00000326793.6 - 0 4131 NM_012287.5 NP_036419.3 Q15057 ACAP2_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 NA NA cellular response to nerve growth factor stimulus (GO:1990090)|protein localization to endosome (GO:0036010)|regulation of ARF GTPase activity (GO:0032312) endosome membrane (GO:0010008)|membrane (GO:0016020) ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270) cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2) 27 AGACTTAATTGTTGACAACAA 0.358 NA G||| 1711 0.341653 0.1868 0.2565 5008 , , NA 16157 0.6835 NA 0.1928 False NA ,,, NA NA NA 2504 0.4121 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS33924.1 3q29 2013-01-10 2008-09-22 2008-09-22 ENSG00000114331 ENSG00000114331 23527 ADP-ribosylation factor GTPase activating proteins, Pleckstrin homology (PH) domain containing, Ankyrin repeat domain containing 16469 protein-coding gene gene with protein product 607766 centaurin, beta 2 CENTB2 NA 11050434, 11062263 Standard NM_012287 NM_012287 NA Approved KIAA0041, CNT-B2 uc003fun.4 Q15057 OTTHUMG00000155885 ENST00000326793.6:c.*1564C>A chr3.hg19:g.194998493G>T NA A8K2V4|Q8N5Z8|Q9UQR3 hg19 CCDS33924.1 0.02 -0.342145 ATTxTTG COVERED NOVEL ACAP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000342126.2 0 5.417767 KEEP 0 0 0 18 642 GG 0.999859 0.865624 0 - 5 60 166 0 0 12.502256 34 60 1267 68 ENST00000326793.6 0.128205 0.865745 ACAP2 23527 __UNKNOWN__ __UNKNOWN__ 3 195022428 195022428 __UNKNOWN__ Intron SNP G G A rs41266997 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:195022428G>A ENST00000326793.6 - 15 1556 NM_012287.5 NP_036419.3 Q15057 ACAP2_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 NA NA cellular response to nerve growth factor stimulus (GO:1990090)|protein localization to endosome (GO:0036010)|regulation of ARF GTPase activity (GO:0032312) endosome membrane (GO:0010008)|membrane (GO:0016020) ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270) cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2) 27 GCGTATTTGCGCAAGTTCTGT 0.383 NA G||| 1104 0.220447 0.0809 0.147 5008 , , NA 16378 0.502 NA 0.1054 False NA ,,, NA NA NA 2504 0.2894 NA NA NA NA 0 G 123,1261 6,111,575 45 41 42 -2.2 0 3 dbSNP_127 42 321,2861 18,285,1288 no intron ACAP2 NM_012287.5 24,396,1863 AA,AG,GG 10.088,8.8873,9.724 195022428 444,4122 692 1591 2283 SO:0001627 intron_variant CCDS33924.1 3q29 2013-01-10 2008-09-22 2008-09-22 ENSG00000114331 ENSG00000114331 23527 ADP-ribosylation factor GTPase activating proteins, Pleckstrin homology (PH) domain containing, Ankyrin repeat domain containing 16469 protein-coding gene gene with protein product 607766 centaurin, beta 2 CENTB2 NA 11050434, 11062263 Standard NM_012287 NM_012287 NA Approved KIAA0041, CNT-B2 uc003fun.4 Q15057 OTTHUMG00000155885 ENST00000326793.6:c.1326-55C>T chr3.hg19:g.195022428G>A NA A8K2V4|Q8N5Z8|Q9UQR3 hg19 CCDS33924.1 0.02 6.375628 TGCxCAA COVERED NOVEL ACAP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000342126.2 3 19.263165 KEEP 0 0 0 64 2292 GG 1 1 0 - 8 60 296 0 0 19.188857 173 60 6186 321 ENST00000326793.6 0.044199 1 ACAP2 23527 __UNKNOWN__ __UNKNOWN__ 3 195102787 195102787 __UNKNOWN__ Intron SNP T T C rs2275518 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:195102787T>C ENST00000326793.6 - 3 342 NM_012287.5 NP_036419.3 Q15057 ACAP2_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 NA NA cellular response to nerve growth factor stimulus (GO:1990090)|protein localization to endosome (GO:0036010)|regulation of ARF GTPase activity (GO:0032312) endosome membrane (GO:0010008)|membrane (GO:0016020) ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270) cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2) 27 AGGTTGAAGATAGTTTTACAA 0.303 NA T||| 1993 0.397963 0.3623 0.2767 5008 , , NA 17685 0.6905 NA 0.2097 False NA ,,, NA NA NA 2504 0.4243 NA NA NA NA 0 T 1369,3017 221,927,1045 26 26 26 -5.4 0 3 dbSNP_100 26 1878,6716 208,1462,2627 no intron ACAP2 NM_012287.5 429,2389,3672 CC,CT,TT 21.8525,31.213,25.0154 195102787 3247,9733 2193 4297 6490 SO:0001627 intron_variant CCDS33924.1 3q29 2013-01-10 2008-09-22 2008-09-22 ENSG00000114331 ENSG00000114331 23527 ADP-ribosylation factor GTPase activating proteins, Pleckstrin homology (PH) domain containing, Ankyrin repeat domain containing 16469 protein-coding gene gene with protein product 607766 centaurin, beta 2 CENTB2 NA 11050434, 11062263 Standard NM_012287 NM_012287 NA Approved KIAA0041, CNT-B2 uc003fun.4 Q15057 OTTHUMG00000155885 ENST00000326793.6:c.112-36A>G chr3.hg19:g.195102787T>C NA A8K2V4|Q8N5Z8|Q9UQR3 hg19 CCDS33924.1 0.02 19.192999 AGAxAGT COVERED NOVEL ACAP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000342126.2 1 17.992898 KEEP 0 0 0 60 1893 TT 1 1 0 - 41 60 1559 0 0 116.565685 392 60 13979 564 ENST00000326793.6 0.094688 1 PPP1R2 5504 __UNKNOWN__ __UNKNOWN__ 3 195241389 195241389 __UNKNOWN__ 3'UTR SNP G G A rs73065894 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:195241389G>A ENST00000328432.3 - 0 3283 NM_006241.4 NP_006232.1 P41236 IPP2_HUMAN protein phosphatase 1, regulatory (inhibitor) subunit 2 NA NA generation of precursor metabolites and energy (GO:0006091)|glycogen metabolic process (GO:0005977)|negative regulation of catalytic activity (GO:0043086)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of signal transduction (GO:0009966) protein serine/threonine phosphatase inhibitor activity (GO:0004865) endometrium(2)|kidney(1)|large_intestine(1)|urinary_tract(2) 6 all_cancers(143;1.8e-08)|Ovarian(172;0.0634) Epithelial(36;2.64e-22)|all cancers(36;2.69e-20)|OV - Ovarian serous cystadenocarcinoma(49;3.52e-19)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128) GBM - Glioblastoma multiforme(46;9.55e-05) AGTCATCTCTGCAGAATTTTA 0.323 NA G||| 840 0.167732 0.2073 0.0591 5008 , , NA 21067 0.374 NA 0.0547 False NA ,,, NA NA NA 2504 0.0951 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U68111 CCDS3309.1 3q29 2012-04-17 ENSG00000184203 ENSG00000184203 5504 3.1.3.16 Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits 9288 protein-coding gene gene with protein product 601792 NA 9126490, 8119416 Standard NM_006241 XM_006713682 NA Approved IPP2 uc003fup.3 P41236 OTTHUMG00000155887 ENST00000328432.3:c.*2305C>T chr3.hg19:g.195241389G>A NA hg19 CCDS3309.1 0.02 13.702893 TCTxCAG COVERED NOVEL PPP1R2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000342133.1 1 17.758389 KEEP 0 0 0 59 2126 GG 1 1 0 - 12 60 430 0 0 25.631164 366 60 13675 483 ENST00000328432.3 0.031746 1 PPP1R2 5504 __UNKNOWN__ __UNKNOWN__ 3 195242593 195242593 __UNKNOWN__ 3'UTR SNP T T G rs1136 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:195242593T>G ENST00000328432.3 - 0 2079 NM_006241.4 NP_006232.1 P41236 IPP2_HUMAN protein phosphatase 1, regulatory (inhibitor) subunit 2 NA NA generation of precursor metabolites and energy (GO:0006091)|glycogen metabolic process (GO:0005977)|negative regulation of catalytic activity (GO:0043086)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of signal transduction (GO:0009966) protein serine/threonine phosphatase inhibitor activity (GO:0004865) endometrium(2)|kidney(1)|large_intestine(1)|urinary_tract(2) 6 all_cancers(143;1.8e-08)|Ovarian(172;0.0634) Epithelial(36;2.64e-22)|all cancers(36;2.69e-20)|OV - Ovarian serous cystadenocarcinoma(49;3.52e-19)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128) GBM - Glioblastoma multiforme(46;9.55e-05) TTCTTAAGTCTAATTAATCCA 0.323 NA T||| 1577 0.314896 0.0537 0.5519 5008 , , NA 18285 0.4683 NA 0.3032 False NA ,,, NA NA NA 2504 0.3538 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U68111 CCDS3309.1 3q29 2012-04-17 ENSG00000184203 ENSG00000184203 5504 3.1.3.16 Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits 9288 protein-coding gene gene with protein product 601792 NA 9126490, 8119416 Standard NM_006241 XM_006713682 NA Approved IPP2 uc003fup.3 P41236 OTTHUMG00000155887 ENST00000328432.3:c.*1101A>C chr3.hg19:g.195242593T>G NA hg19 CCDS3309.1 0.02 7.604525 GTCxAAT COVERED NOVEL PPP1R2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000342133.1 4 18.958187 KEEP 0 0 0 63 2018 TT 1 1 0 - 9 60 304 0 0 17.977451 235 70 8774 372 ENST00000328432.3 0.036885 1 PPP1R2 5504 __UNKNOWN__ __UNKNOWN__ 3 195243723 195243723 __UNKNOWN__ Missense_Mutation SNP G G T rs199691918 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:195243723G>T ENST00000328432.3 - 6 949 c.589C>A c.(589-591)Caa>Aaa p.Q197K NM_006241.4 NP_006232.1 P41236 IPP2_HUMAN protein phosphatase 1, regulatory (inhibitor) subunit 2 197 NA generation of precursor metabolites and energy (GO:0006091)|glycogen metabolic process (GO:0005977)|negative regulation of catalytic activity (GO:0043086)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of signal transduction (GO:0009966) protein serine/threonine phosphatase inhibitor activity (GO:0004865) endometrium(2)|kidney(1)|large_intestine(1)|urinary_tract(2) 6 all_cancers(143;1.8e-08)|Ovarian(172;0.0634) Epithelial(36;2.64e-22)|all cancers(36;2.69e-20)|OV - Ovarian serous cystadenocarcinoma(49;3.52e-19)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128) GBM - Glioblastoma multiforme(46;9.55e-05) TTTTGCTGTTGGTCACTTGGA 0.358 NA G||| 1 0.000199681 0.0 0.0 5008 , , NA 18327 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 146 137 140 NA NA 3 NA 195243723 2202 4300 6502 SO:0001583 missense U68111 CCDS3309.1 3q29 2012-04-17 ENSG00000184203 ENSG00000184203 5504 3.1.3.16 Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits 9288 protein-coding gene gene with protein product 601792 NA 9126490, 8119416 Standard NM_006241 XM_006713682 NA Approved IPP2 uc003fup.3 P41236 OTTHUMG00000155887 ENST00000328432.3:c.589C>A chr3.hg19:g.195243723G>T ENSP00000328178:p.Gln197Lys NA hg19 CCDS3309.1 0.02 18.240221 GTTxGTC COVERED 2 9.157509157509158E-4 0 0.0 0 0.0 2 0.0034965034965034965 0 0.0 G 15.76 2.928170 0.52759 . . ENSG00000184203 ENST00000328432 . . . 5.86 5.86 0.93980 . 0.606642 0.16133 N 0.228101 T 0.43700 0.1259 L 0.48642 1.525 0.26658 N 0.971967 B 0.23316 0.083 B 0.19946 0.027 T 0.22521 -1.0214 9 0.27785 T 0.31 . 16.0536 0.80779 0.0:0.0:1.0:0.0 . 197 P41236 IPP2_HUMAN K 197 . ENSP00000328178:Q197K Q - 1 0 PPP1R2 196725012 1.000000 0.71417 0.999000 0.59377 0.923000 0.55619 4.966000 0.63715 2.937000 0.99478 0.650000 0.86243 CAA NOVEL PPP1R2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000342133.1 6 26.786729 KEEP 0 0 0 89 3138 GG 1 1 0 - 18 60 652 0 0 40.40324 466 60 16982 658 ENST00000328432.3 0.03719 1 PPP1R2 5504 __UNKNOWN__ __UNKNOWN__ 3 195270012 195270012 __UNKNOWN__ 5'UTR SNP A A G rs11475 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:195270012A>G ENST00000328432.3 - 0 197 NM_006241.4 NP_006232.1 P41236 IPP2_HUMAN protein phosphatase 1, regulatory (inhibitor) subunit 2 NA NA generation of precursor metabolites and energy (GO:0006091)|glycogen metabolic process (GO:0005977)|negative regulation of catalytic activity (GO:0043086)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of signal transduction (GO:0009966) protein serine/threonine phosphatase inhibitor activity (GO:0004865) endometrium(2)|kidney(1)|large_intestine(1)|urinary_tract(2) 6 all_cancers(143;1.8e-08)|Ovarian(172;0.0634) Epithelial(36;2.64e-22)|all cancers(36;2.69e-20)|OV - Ovarian serous cystadenocarcinoma(49;3.52e-19)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128) GBM - Glioblastoma multiforme(46;9.55e-05) TTGTCACGACACAACGACCCC 0.687 NA A||| 1599 0.319289 0.0469 0.5677 5008 , , NA 12673 0.4325 NA 0.3529 False NA ,,, NA NA NA 2504 0.3599 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant U68111 CCDS3309.1 3q29 2012-04-17 ENSG00000184203 ENSG00000184203 5504 3.1.3.16 Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits 9288 protein-coding gene gene with protein product 601792 NA 9126490, 8119416 Standard NM_006241 XM_006713682 NA Approved IPP2 uc003fup.3 P41236 OTTHUMG00000155887 ENST00000328432.3:c.-164T>C chr3.hg19:g.195270012A>G NA hg19 CCDS3309.1 0.02 12.803021 GACxCAA COVERED NOVEL PPP1R2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000342133.1 0 83.839189 KEEP 0 3 110 317 9581 AA 1 1 0 - 17 60 569 0 0 35.620674 328 60 11599 898 ENST00000328432.3 0.049275 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 195341754 195341754 __UNKNOWN__ IGR SNP T T A rs2077658 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:195341754T>A NA NA APOD (30678 upstream) : RP11-141C7.4 (25106 downstream) NA NA NA CGGTTTGAGGTAGCAGGAAAA 0.597 NA .||| 3284 0.655751 0.4758 0.6009 5008 , , NA 16209 0.9752 NA 0.6779 False NA ,,, NA NA NA 2504 0.5859 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.195341754T>A NA hg19 0.02 -0.394649 AGGxAGC COVERED NOVEL 0 0 3.342463 KEEP 0 1 31 22 638 TT 0.999892 0.92654 0 4 60 152 0 0 11.247823 41 60 1347 92 0.088889 0.92664 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 195345354 195345354 __UNKNOWN__ IGR SNP T T C rs62285132 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:195345354T>C NA NA APOD (34278 upstream) : RP11-141C7.4 (21506 downstream) NA NA NA ACTGCCTCCTTCTTGTTCGCT 0.572 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.195345354T>C NA hg19 0.02 9.717701 CCTxCTT COVERED NOVEL 0 5 14.980017 KEEP 197 1 38 63 1944 TT 0.999997 0.999997 0 10 44 381 0 0 24.769034 233 50 8520 560 0.041152 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 195346861 195346861 __UNKNOWN__ IGR SNP T T C rs116014205 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:195346861T>C NA NA APOD (35785 upstream) : RP11-141C7.4 (19999 downstream) NA NA NA TACAGCCCCTTGGAAGCCGCC 0.592 NA .||| 1158 0.23123 0.2716 0.1974 5008 , , NA 27337 0.1052 NA 0.335 False NA ,,, NA NA NA 2504 0.2239 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.195346861T>C NA hg19 0.02 16.111673 CCTxGGA COVERED 496 0.2271062271062271 108 0.21951219512195122 99 0.27348066298342544 65 0.11363636363636363 224 0.2955145118733509 . 2.524 -0.310135 0.05458 . . ENSG00000176945 ENST00000381954 . . . 0.705 0.705 0.18127 . . . . . T 0.00012 0.0000 . . . 0.80722 P 0.0 . . . . . . T 0.36792 -0.9733 4 0.02654 T 1 . 3.2106 0.06681 0.0:0.6663:0.0:0.3337 . . . . S 388 . ENSP00000371380:L388S L + 2 0 MUC20 196828150 0.000000 0.05858 0.003000 0.11579 0.007000 0.05969 0.206000 0.17375 -0.114000 0.11936 -1.353000 0.01230 TTG NOVEL 0 1 3.111205 KEEP 7 3 105 47 1414 TT 1 1 0 20 60 700 0 0 44.175658 423 60 15189 597 0.045147 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 195347059 195347059 __UNKNOWN__ IGR SNP C C T rs2410778 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:195347059C>T NA NA APOD (35983 upstream) : RP11-141C7.4 (19801 downstream) NA NA NA ACAGCCACGCCCACCACTGCT 0.582 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.195347059C>T NA hg19 0.02 16.701934 CGCxCAC COVERED NOVEL 0 2 21.069303 KEEP 1 0 0 70 2534 CC 1 1 0 51 60 1886 1 0 149.29028 307 60 11291 557 0.142458 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 195366827 195366827 __UNKNOWN__ IGR SNP T T C rs149663499 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:195366827T>C NA NA APOD (55751 upstream) : RP11-141C7.4 (33 downstream) NA NA NA TAGACACATATCAATCCGCTT 0.423 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.195366827T>C NA hg19 0.02 2.320603 ATAxCAA COVERED NOVEL 0 1 3.91228 KEEP 0 0 0 13 421 TT 0.994391 0.993094 0 7 40 256 0 0 19.72063 50 60 1764 107 0.122807 0.998696 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 195366853 195366853 __UNKNOWN__ IGR SNP G G A rs376777006 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:195366853G>A NA NA APOD (55777 upstream) : RP11-141C7.4 (7 downstream) NA NA NA TCCTCTCTGAGTTTCTTTATT 0.438 NA .||| 2183 0.435903 0.4402 0.3718 5008 , , NA 21377 0.5298 NA 0.4264 False NA ,,, NA NA NA 2504 0.3885 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.195366853G>A NA hg19 0.02 2.038541 TGAxTTT COVERED NOVEL 0 3 5.11686 KEEP 0 0 0 17 617 GG 0.999366 0.997568 0 4 42 139 0 0 9.458798 55 60 2045 109 0.067797 0.9982 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 195381414 195381414 __UNKNOWN__ IGR SNP T T G rs371885568 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:195381414T>G NA NA RP11-141C7.4 (14083 upstream) : AC069513.4 (1021 downstream) NA NA NA CCCGGCCTGCTTTTTTCTTTT 0.512 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.195381414T>G NA hg19 0.02 -0.166689 TGCxTTT UNCOVERED NOVEL 0 0 2.407556 KEEP 4 0 0 8 261 TT 0 0 0 4 40 147 0 0 12.362041 15 50 544 35 0.210526 0.353947 LINC00969 440993 __UNKNOWN__ __UNKNOWN__ 3 195390637 195390637 __UNKNOWN__ lincRNA SNP A A C rs200260138 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:195390637A>C ENST00000445430.1 + 0 481 long intergenic non-protein coding RNA 969 NA NA NA GCCATGGTCGAGGTGATGGGC 0.582 NA .||| 2460 0.491214 0.2905 0.4798 5008 , , NA 14127 0.754 NA 0.5467 False NA ,,, NA NA NA 2504 0.4427 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AK128346 3q29 2013-06-07 ENSG00000242086 ENSG00000242086 440993 Long non-coding RNAs 48729 non-coding RNA RNA, long non-coding NA Standard XR_427455 NA Approved OTTHUMG00000155834 ENST00000445430.1: chr3.hg19:g.195390637A>C NA hg19 0.02 -0.377247 TCGxGGT COVERED NOVEL LINC00969-038 KNOWN basic lincRNA NA lincRNA OTTHUMT00000341951.1 0 7.222046 KEEP 9 0 0 24 760 AA 0.999863 0.908944 0 + 3 40 105 0 0 7.20759 40 60 1503 109 ENST00000445430.1 0.069767 0.909069 LINC00969 440993 __UNKNOWN__ __UNKNOWN__ 3 195395533 195395533 __UNKNOWN__ lincRNA SNP C C T rs9847770 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:195395533C>T ENST00000445430.1 + 0 919 long intergenic non-protein coding RNA 969 NA NA NA ACGCCTTGCCCGGAAGGCGTT 0.542 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AK128346 3q29 2013-06-07 ENSG00000242086 ENSG00000242086 440993 Long non-coding RNAs 48729 non-coding RNA RNA, long non-coding NA Standard XR_427455 NA Approved OTTHUMG00000155834 ENST00000445430.1: chr3.hg19:g.195395533C>T NA hg19 0.02 25.580719 GCCxGGA COVERED NOVEL LINC00969-038 KNOWN basic lincRNA NA lincRNA OTTHUMT00000341951.1 2 48.016271 KEEP 2 2 64 182 6167 CC 1 1 0 + 34 49 1261 0 0 85.850036 557 60 19442 1016 ENST00000445430.1 0.05753 1 LINC00969 440993 __UNKNOWN__ __UNKNOWN__ 3 195398218 195398218 __UNKNOWN__ lincRNA SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:195398218G>A ENST00000445430.1 + 0 1088 long intergenic non-protein coding RNA 969 NA NA NA CACACGGGCCGGGGTTGCTTC 0.612 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AK128346 3q29 2013-06-07 ENSG00000242086 ENSG00000242086 440993 Long non-coding RNAs 48729 non-coding RNA RNA, long non-coding NA Standard XR_427455 NA Approved OTTHUMG00000155834 ENST00000445430.1: chr3.hg19:g.195398218G>A NA hg19 0.02 10.958287 GCCxGGG COVERED NOVEL LINC00969-038 KNOWN basic lincRNA NA lincRNA OTTHUMT00000341951.1 1 22.267173 KEEP 204 0 0 74 2463 GG 0.999997 0.999997 0 + 8 27 299 0 0 17.915186 275 60 10034 545 ENST00000445430.1 0.028269 1 LINC00969 440993 __UNKNOWN__ __UNKNOWN__ 3 195398271 195398271 __UNKNOWN__ lincRNA SNP A A G rs142433257 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:195398271A>G ENST00000445430.1 + 0 1088 long intergenic non-protein coding RNA 969 NA NA NA GTGTGCAGGCACATGTGCACA 0.542 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AK128346 3q29 2013-06-07 ENSG00000242086 ENSG00000242086 440993 Long non-coding RNAs 48729 non-coding RNA RNA, long non-coding NA Standard XR_427455 NA Approved OTTHUMG00000155834 ENST00000445430.1: chr3.hg19:g.195398271A>G NA hg19 0.02 8.945722 GGCxCAT COVERED NOVEL LINC00969-038 KNOWN basic lincRNA NA lincRNA OTTHUMT00000341951.1 1 6.015536 KEEP 45 0 0 20 581 AA 0.999366 0.999366 0 + 14 49 515 0 0 35.012198 226 60 7793 320 ENST00000445430.1 0.058333 1 LINC00969 440993 __UNKNOWN__ __UNKNOWN__ 3 195412596 195412596 __UNKNOWN__ lincRNA SNP A A G rs374482149 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:195412596A>G ENST00000445430.1 + 0 3793 long intergenic non-protein coding RNA 969 NA NA NA CATGCCGTAAATCTACTTTTA 0.343 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AK128346 3q29 2013-06-07 ENSG00000242086 ENSG00000242086 440993 Long non-coding RNAs 48729 non-coding RNA RNA, long non-coding NA Standard XR_427455 NA Approved OTTHUMG00000155834 ENST00000445430.1: chr3.hg19:g.195412596A>G NA hg19 0.02 10.484886 TAAxTCT COVERED NOVEL LINC00969-038 KNOWN basic lincRNA NA lincRNA OTTHUMT00000341951.1 5 3.682878 KEEP 18 2 71 37 1207 AA 0.999999 0.999999 0 + 8 27 290 0 0 17.840175 216 50 7563 334 ENST00000445430.1 0.035714 1 LINC00969 440993 __UNKNOWN__ __UNKNOWN__ 3 195412876 195412876 __UNKNOWN__ lincRNA SNP T T C rs11185503 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:195412876T>C ENST00000445430.1 + 0 4073 long intergenic non-protein coding RNA 969 NA NA NA TTCTGCACTCTGGGGAAGAAG 0.443 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AK128346 3q29 2013-06-07 ENSG00000242086 ENSG00000242086 440993 Long non-coding RNAs 48729 non-coding RNA RNA, long non-coding NA Standard XR_427455 NA Approved OTTHUMG00000155834 ENST00000445430.1: chr3.hg19:g.195412876T>C NA hg19 0.02 15.223322 CTCxGGG COVERED NOVEL LINC00969-038 KNOWN basic lincRNA NA lincRNA OTTHUMT00000341951.1 6 14.176136 KEEP 24 1 34 59 1854 TT 1 1 0 + 56 60 1937 0 0 154.210859 286 60 10631 564 ENST00000445430.1 0.163743 1 LINC00969 440993 __UNKNOWN__ __UNKNOWN__ 3 195412928 195412928 __UNKNOWN__ lincRNA SNP G G A rs9840959 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:195412928G>A ENST00000445430.1 + 0 4125 long intergenic non-protein coding RNA 969 NA NA NA GCCGGGGAGCGTGGCACTTAC 0.428 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AK128346 3q29 2013-06-07 ENSG00000242086 ENSG00000242086 440993 Long non-coding RNAs 48729 non-coding RNA RNA, long non-coding NA Standard XR_427455 NA Approved OTTHUMG00000155834 ENST00000445430.1: chr3.hg19:g.195412928G>A NA hg19 0.02 16.815842 AGCxTGG COVERED NOVEL LINC00969-038 KNOWN basic lincRNA NA lincRNA OTTHUMT00000341951.1 10 13.177932 KEEP 5 1 32 55 1920 GG 1 1 0 + 40 60 1501 0 0 118.281293 256 60 9183 520 ENST00000445430.1 0.135135 1 MUC20 200958 __UNKNOWN__ __UNKNOWN__ 3 195452619 195452619 __UNKNOWN__ Missense_Mutation SNP C C T rs200883738 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:195452619C>T ENST00000436408.1 + 2 1269 c.1145C>T c.(1144-1146)gCc>gTc p.A382V MUC20_ENST00000447234.2_Missense_Mutation_p.A382V|MUC20_ENST00000320736.6_Missense_Mutation_p.A211V|MUC20_ENST00000445522.2_Missense_Mutation_p.A347V Q8N307 MUC20_HUMAN mucin 20, cell surface associated 382 12 X 20 AA approximate tandem repeats of S-S-E-S-S-A-S-S-D-S-P-H-P-V-I-T-P-S-R-A.|Ser-rich. NA activation of MAPK activity (GO:0000187)|cellular protein metabolic process (GO:0044267)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein homooligomerization (GO:0051260) basal plasma membrane (GO:0009925)|cell projection (GO:0042995)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796) p.A382V(1) NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1) 23 all_cancers(143;1.8e-08)|Ovarian(172;0.0634) Lung NSC(153;0.191) Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128) GBM - Glioblastoma multiforme(46;1.66e-05) CCGTCACGGGCCTCAGAGAGC 0.662 NA NA NA NA NA NA NA NA NA NA NA 1 Substitution - Missense(1) kidney(1) 2 2 2 NA NA 3 NA 195452619 1026 2268 3294 SO:0001583 missense AB037780 CCDS63877.1 3q29 2008-08-07 2006-03-14 ENSG00000176945 ENSG00000176945 200958 Mucins 23282 protein-coding gene gene with protein product 610360 NA 14565953 Standard NM_152673 NM_001282506 NA Approved FLJ14408, KIAA1359 uc010hzo.3 Q8N307 OTTHUMG00000155823 ENST00000436408.1:c.1145C>T chr3.hg19:g.195452619C>T ENSP00000396774:p.Ala382Val NA Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8 hg19 0.02 5.6735 GGGxCTC COVERED . . . . . . . . . . C 9.944 1.218251 0.22373 . . ENSG00000176945 ENST00000447234;ENST00000320736;ENST00000436408;ENST00000445522 T;T;T;T 0.15372 2.92;2.43;3.11;2.5 0.602 0.602 0.17535 . . . . . T 0.07007 0.0178 . . . 0.09310 N 1 P 0.35481 0.504 B 0.27380 0.079 T 0.35151 -0.9800 7 0.14656 T 0.56 . . . . . 211 E9PH32 . V 382;211;382;347 ENSP00000414350:A382V;ENSP00000325431:A211V;ENSP00000396774:A382V;ENSP00000405629:A347V ENSP00000325431:A211V A + 2 0 MUC20 196938290 0.028000 0.19301 0.007000 0.13788 0.025000 0.11179 1.554000 0.36266 0.567000 0.29293 0.411000 0.27672 GCC NOVEL MUC20-002 PUTATIVE basic|appris_candidate_longest|exp_conf protein_coding NA protein_coding OTTHUMT00000341836.1 4 27.689675 KEEP 173 0 0 92 3269 CC 1 1 0 + 7 27 226 0 0 12.949244 185 60 6673 521 ENST00000436408.1 0.036458 1 MUC20 200958 __UNKNOWN__ __UNKNOWN__ 3 195452645 195452645 __UNKNOWN__ Missense_Mutation SNP G G A rs200616967 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:195452645G>A ENST00000436408.1 + 2 1295 c.1171G>A c.(1171-1173)Ggc>Agc p.G391S MUC20_ENST00000447234.2_Missense_Mutation_p.G391S|MUC20_ENST00000320736.6_Missense_Mutation_p.G220S|MUC20_ENST00000445522.2_Missense_Mutation_p.G356S Q8N307 MUC20_HUMAN mucin 20, cell surface associated 391 12 X 20 AA approximate tandem repeats of S-S-E-S-S-A-S-S-D-S-P-H-P-V-I-T-P-S-R-A. NA activation of MAPK activity (GO:0000187)|cellular protein metabolic process (GO:0044267)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein homooligomerization (GO:0051260) basal plasma membrane (GO:0009925)|cell projection (GO:0042995)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796) p.G391S(1) NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1) 23 all_cancers(143;1.8e-08)|Ovarian(172;0.0634) Lung NSC(153;0.191) Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128) GBM - Glioblastoma multiforme(46;1.66e-05) CTCTTCCGACGGCCCCCATCC 0.622 NA NA NA NA NA NA NA NA NA NA NA 1 Substitution - Missense(1) kidney(1) 3 2 2 NA NA 3 NA 195452645 1453 3082 4535 SO:0001583 missense AB037780 CCDS63877.1 3q29 2008-08-07 2006-03-14 ENSG00000176945 ENSG00000176945 200958 Mucins 23282 protein-coding gene gene with protein product 610360 NA 14565953 Standard NM_152673 NM_001282506 NA Approved FLJ14408, KIAA1359 uc010hzo.3 Q8N307 OTTHUMG00000155823 ENST00000436408.1:c.1171G>A chr3.hg19:g.195452645G>A ENSP00000396774:p.Gly391Ser NA Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8 hg19 0.02 7.092503 GACxGCC COVERED . . . . . . . . . . G 0.012 -1.663601 0.00772 . . ENSG00000176945 ENST00000447234;ENST00000320736;ENST00000436408;ENST00000445522 T;T;T;T 0.19806 2.98;2.12;3.1;2.58 0.669 -0.281 0.12882 . . . . . T 0.07548 0.0190 . . . 0.09310 N 1 B 0.14012 0.009 B 0.08055 0.003 T 0.40421 -0.9564 7 0.07175 T 0.84 . . . . . 220 E9PH32 . S 391;220;391;356 ENSP00000414350:G391S;ENSP00000325431:G220S;ENSP00000396774:G391S;ENSP00000405629:G356S ENSP00000325431:G220S G + 1 0 MUC20 196938316 0.000000 0.05858 0.001000 0.08648 0.001000 0.01503 -3.519000 0.00444 -0.171000 0.10797 -0.363000 0.07495 GGC NOVEL MUC20-002 PUTATIVE basic|appris_candidate_longest|exp_conf protein_coding NA protein_coding OTTHUMT00000341836.1 9 37.007326 KEEP 279 0 0 123 4065 GG 1 1 0 + 6 22 232 0 0 14.688128 171 60 5831 658 ENST00000436408.1 0.033898 1 MUC20 200958 __UNKNOWN__ __UNKNOWN__ 3 195452668 195452668 __UNKNOWN__ Silent SNP C C G rs201581458 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:195452668C>G ENST00000436408.1 + 2 1318 c.1194C>G c.(1192-1194)ccC>ccG p.P398P MUC20_ENST00000447234.2_Silent_p.P398P|MUC20_ENST00000320736.6_Silent_p.P227P|MUC20_ENST00000445522.2_Silent_p.P363P Q8N307 MUC20_HUMAN mucin 20, cell surface associated 398 12 X 20 AA approximate tandem repeats of S-S-E-S-S-A-S-S-D-S-P-H-P-V-I-T-P-S-R-A. NA activation of MAPK activity (GO:0000187)|cellular protein metabolic process (GO:0044267)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein homooligomerization (GO:0051260) basal plasma membrane (GO:0009925)|cell projection (GO:0042995)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796) NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1) 23 all_cancers(143;1.8e-08)|Ovarian(172;0.0634) Lung NSC(153;0.191) Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128) GBM - Glioblastoma multiforme(46;1.66e-05) TCATCACCCCCTCATGGTCCC 0.582 NA a||| 1176 0.234824 0.2731 0.2233 5008 , , NA 23539 0.3294 NA 0.1988 False NA ,,, NA NA NA 2504 0.1309 NA NA NA NA 0 4 3 3 NA NA 3 NA 195452668 1613 3526 5139 SO:0001819 synonymous_variant AB037780 CCDS63877.1 3q29 2008-08-07 2006-03-14 ENSG00000176945 ENSG00000176945 200958 Mucins 23282 protein-coding gene gene with protein product 610360 NA 14565953 Standard NM_152673 NM_001282506 NA Approved FLJ14408, KIAA1359 uc010hzo.3 Q8N307 OTTHUMG00000155823 ENST00000436408.1:c.1194C>G chr3.hg19:g.195452668C>G NA Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8 hg19 0.02 6.953775 CCCxTCA COVERED NOVEL MUC20-002 PUTATIVE basic|appris_candidate_longest|exp_conf protein_coding NA protein_coding OTTHUMT00000341836.1 10 29.226108 KEEP 323 4 113 137 4834 CC 1 1 0 + 9 40 298 0 0 18.798686 162 50 6304 693 ENST00000436408.1 0.052632 1 MUC20 200958 __UNKNOWN__ __UNKNOWN__ 3 195452770 195452770 __UNKNOWN__ Silent SNP G G A rs2550231 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:195452770G>A ENST00000436408.1 + 2 1420 c.1296G>A c.(1294-1296)acG>acA p.T432T MUC20_ENST00000447234.2_Silent_p.T432T|MUC20_ENST00000320736.6_Silent_p.T261T|MUC20_ENST00000445522.2_Silent_p.T397T Q8N307 MUC20_HUMAN mucin 20, cell surface associated 432 NA activation of MAPK activity (GO:0000187)|cellular protein metabolic process (GO:0044267)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein homooligomerization (GO:0051260) basal plasma membrane (GO:0009925)|cell projection (GO:0042995)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796) NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1) 23 all_cancers(143;1.8e-08)|Ovarian(172;0.0634) Lung NSC(153;0.191) Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128) GBM - Glioblastoma multiforme(46;1.66e-05) TAGAAACAACGACTTCCAGCA 0.557 NA NA NA NA NA NA NA NA NA NA NA 0 26 22 23 NA NA 3 NA 195452770 1913 4085 5998 SO:0001819 synonymous_variant AB037780 CCDS63877.1 3q29 2008-08-07 2006-03-14 ENSG00000176945 ENSG00000176945 200958 Mucins 23282 protein-coding gene gene with protein product 610360 NA 14565953 Standard NM_152673 NM_001282506 NA Approved FLJ14408, KIAA1359 uc010hzo.3 Q8N307 OTTHUMG00000155823 ENST00000436408.1:c.1296G>A chr3.hg19:g.195452770G>A NA Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8 hg19 0.02 10.584999 AACxACT COVERED NOVEL MUC20-002 PUTATIVE basic|appris_candidate_longest|exp_conf protein_coding NA protein_coding OTTHUMT00000341836.1 9 33.203399 KEEP 339 1 33 122 4044 GG 0.999863 0.999863 0 + 14 40 489 0 0 31.720936 255 40 8192 774 ENST00000436408.1 0.052045 1 MUC20 200958 __UNKNOWN__ __UNKNOWN__ 3 195452799 195452799 __UNKNOWN__ Missense_Mutation SNP C C T rs2550232 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:195452799C>T ENST00000436408.1 + 2 1449 c.1325C>T c.(1324-1326)aCa>aTa p.T442I MUC20_ENST00000447234.2_Missense_Mutation_p.T442I|MUC20_ENST00000320736.6_Missense_Mutation_p.T271I|MUC20_ENST00000445522.2_Missense_Mutation_p.T407I Q8N307 MUC20_HUMAN mucin 20, cell surface associated 442 NA T -> I (in dbSNP:rs2550232). {ECO:0000269|PubMed:12975309, ECO:0000269|PubMed:14565953, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}. activation of MAPK activity (GO:0000187)|cellular protein metabolic process (GO:0044267)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein homooligomerization (GO:0051260) basal plasma membrane (GO:0009925)|cell projection (GO:0042995)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796) p.T442I(1) NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1) 23 all_cancers(143;1.8e-08)|Ovarian(172;0.0634) Lung NSC(153;0.191) Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128) GBM - Glioblastoma multiforme(46;1.66e-05) GCCTCAGACACAGATCTCATC 0.532 NA NA NA NA NA NA NA NA NA NA NA 1 Substitution - Missense(1) stomach(1) 32 28 29 NA NA 3 NA 195452799 2010 4148 6158 SO:0001583 missense AB037780 CCDS63877.1 3q29 2008-08-07 2006-03-14 ENSG00000176945 ENSG00000176945 200958 Mucins 23282 protein-coding gene gene with protein product 610360 NA 14565953 Standard NM_152673 NM_001282506 NA Approved FLJ14408, KIAA1359 uc010hzo.3 Q8N307 OTTHUMG00000155823 ENST00000436408.1:c.1325C>T chr3.hg19:g.195452799C>T ENSP00000396774:p.Thr442Ile NA Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8 hg19 0.02 10.936053 ACAxAGA COVERED . . . . . . . . . . C 5.403 0.259635 0.10239 . . ENSG00000176945 ENST00000447234;ENST00000320736;ENST00000436408;ENST00000445522 T;T;T;T 0.13657 2.99;2.99;3.16;2.57 4.27 -2.63 0.06133 . 1.775520 0.02976 N 0.144951 T 0.06690 0.0171 N 0.11201 0.11 0.80722 P 0.0 B 0.09022 0.002 B 0.13407 0.009 T 0.31280 -0.9949 9 0.12430 T 0.62 5.5294 5.5723 0.17204 0.0:0.4472:0.1347:0.4182 rs2550232;rs3906442 271 E9PH32 . I 442;271;442;407 ENSP00000414350:T442I;ENSP00000325431:T271I;ENSP00000396774:T442I;ENSP00000405629:T407I ENSP00000325431:T271I T + 2 0 MUC20 196938470 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -0.576000 0.05854 -0.731000 0.04862 -0.291000 0.09656 ACA NOVEL MUC20-002 PUTATIVE basic|appris_candidate_longest|exp_conf protein_coding NA protein_coding OTTHUMT00000341836.1 6 23.645321 KEEP 255 2 55 98 3478 CC 0.999988 0.999988 0 + 12 60 423 0 0 26.774519 257 60 9669 675 ENST00000436408.1 0.04461 1 MUC20 200958 __UNKNOWN__ __UNKNOWN__ 3 195456375 195456375 __UNKNOWN__ Intron SNP C C T rs3762740 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:195456375C>T ENST00000436408.1 + 3 2093 MUC20_ENST00000447234.2_Intron|MUC20_ENST00000320736.6_Intron|MUC20_ENST00000445522.2_Intron Q8N307 MUC20_HUMAN mucin 20, cell surface associated NA NA activation of MAPK activity (GO:0000187)|cellular protein metabolic process (GO:0044267)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein homooligomerization (GO:0051260) basal plasma membrane (GO:0009925)|cell projection (GO:0042995)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796) NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1) 23 all_cancers(143;1.8e-08)|Ovarian(172;0.0634) Lung NSC(153;0.191) Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128) GBM - Glioblastoma multiforme(46;1.66e-05) ttagtaaagacgggatttctc 0.557 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB037780 CCDS63877.1 3q29 2008-08-07 2006-03-14 ENSG00000176945 ENSG00000176945 200958 Mucins 23282 protein-coding gene gene with protein product 610360 NA 14565953 Standard NM_152673 NM_001282506 NA Approved FLJ14408, KIAA1359 uc010hzo.3 Q8N307 OTTHUMG00000155823 ENST00000436408.1:c.1970-144C>T chr3.hg19:g.195456375C>T NA Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8 hg19 0.02 -0.332273 AGAxGGG COVERED NOVEL MUC20-002 PUTATIVE basic|appris_candidate_longest|exp_conf protein_coding NA protein_coding OTTHUMT00000341836.1 2 3.912477 KEEP 0 0 0 13 440 CC 0.994391 0.860889 0 + 3 60 111 0 0 7.978853 35 60 1228 57 ENST00000436408.1 0.078947 0.865745 MUC20 200958 __UNKNOWN__ __UNKNOWN__ 3 195460287 195460287 __UNKNOWN__ Intron SNP G G A rs712010 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:195460287G>A ENST00000436408.1 + 4 2185 MUC20_ENST00000447234.2_3'UTR|MUC20_ENST00000320736.6_3'UTR|MUC20_ENST00000445522.2_3'UTR Q8N307 MUC20_HUMAN mucin 20, cell surface associated NA NA activation of MAPK activity (GO:0000187)|cellular protein metabolic process (GO:0044267)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein homooligomerization (GO:0051260) basal plasma membrane (GO:0009925)|cell projection (GO:0042995)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796) NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1) 23 all_cancers(143;1.8e-08)|Ovarian(172;0.0634) Lung NSC(153;0.191) Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128) GBM - Glioblastoma multiforme(46;1.66e-05) GAGTGTATGTGTGGGGAGGGG 0.557 NA .||| 2200 0.439297 0.2315 0.3934 5008 , , NA 26877 0.749 NA 0.4245 False NA ,,, NA NA NA 2504 0.4489 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB037780 CCDS63877.1 3q29 2008-08-07 2006-03-14 ENSG00000176945 ENSG00000176945 200958 Mucins 23282 protein-coding gene gene with protein product 610360 NA 14565953 Standard NM_152673 NM_001282506 NA Approved FLJ14408, KIAA1359 uc010hzo.3 Q8N307 OTTHUMG00000155823 ENST00000436408.1:c.2062-1340G>A chr3.hg19:g.195460287G>A NA Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8 hg19 0.02 5.955869 TGTxTGG COVERED NOVEL MUC20-002 PUTATIVE basic|appris_candidate_longest|exp_conf protein_coding NA protein_coding OTTHUMT00000341836.1 2 8.123889 KEEP 0 0 0 27 939 GG 0.999988 0.999988 0 + 7 60 248 0 0 15.454661 164 60 6104 232 ENST00000436408.1 0.040936 1 MUC20 200958 __UNKNOWN__ __UNKNOWN__ 3 195462025 195462025 __UNKNOWN__ 3'UTR SNP G G A rs2688446 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:195462025G>A ENST00000320736.6 + 0 3679 Q8N307 MUC20_HUMAN mucin 20, cell surface associated NA NA activation of MAPK activity (GO:0000187)|cellular protein metabolic process (GO:0044267)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein homooligomerization (GO:0051260) basal plasma membrane (GO:0009925)|cell projection (GO:0042995)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796) NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1) 23 all_cancers(143;1.8e-08)|Ovarian(172;0.0634) Lung NSC(153;0.191) Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128) GBM - Glioblastoma multiforme(46;1.66e-05) cgaaatcctcggcaccgtctt 0.527 NA .||| 2208 0.440895 0.2315 0.3977 5008 , , NA 25330 0.747 NA 0.4284 False NA ,,, NA NA NA 2504 0.4519 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB037780 CCDS63877.1 3q29 2008-08-07 2006-03-14 ENSG00000176945 ENSG00000176945 200958 Mucins 23282 protein-coding gene gene with protein product 610360 NA 14565953 Standard NM_152673 NM_001282506 NA Approved FLJ14408, KIAA1359 uc010hzo.3 Q8N307 OTTHUMG00000155823 ENST00000320736.6:c.*1936G>A chr3.hg19:g.195462025G>A NA Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8 hg19 0.02 6.308999 CTCxGCA COVERED NOVEL MUC20-201 KNOWN basic|appris_candidate protein_coding NA protein_coding 4 7.392343 KEEP 0 2 61 46 1549 GG 1 1 0 + 11 60 384 0 0 25.246282 189 60 6768 282 ENST00000320736.6 0.055 1 MUC20 200958 __UNKNOWN__ __UNKNOWN__ 3 195462041 195462041 __UNKNOWN__ 3'UTR SNP C C T rs2344604 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:195462041C>T ENST00000320736.6 + 0 3695 Q8N307 MUC20_HUMAN mucin 20, cell surface associated NA NA activation of MAPK activity (GO:0000187)|cellular protein metabolic process (GO:0044267)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein homooligomerization (GO:0051260) basal plasma membrane (GO:0009925)|cell projection (GO:0042995)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796) NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1) 23 all_cancers(143;1.8e-08)|Ovarian(172;0.0634) Lung NSC(153;0.191) Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128) GBM - Glioblastoma multiforme(46;1.66e-05) gtctttattcccctctcacat 0.542 NA .||| 2160 0.43131 0.2035 0.3905 5008 , , NA 24755 0.747 NA 0.4225 False NA ,,, NA NA NA 2504 0.4519 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB037780 CCDS63877.1 3q29 2008-08-07 2006-03-14 ENSG00000176945 ENSG00000176945 200958 Mucins 23282 protein-coding gene gene with protein product 610360 NA 14565953 Standard NM_152673 NM_001282506 NA Approved FLJ14408, KIAA1359 uc010hzo.3 Q8N307 OTTHUMG00000155823 ENST00000320736.6:c.*1952C>T chr3.hg19:g.195462041C>T NA Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8 hg19 0.02 6.243887 TTCxCCT COVERED NOVEL MUC20-201 KNOWN basic|appris_candidate protein_coding NA protein_coding 2 2.478081 KEEP 0 2 65 31 1073 CC 0.999998 0.999998 0 + 8 60 287 0 0 18.686242 154 60 5493 211 ENST00000320736.6 0.049383 1 MUC4 4585 __UNKNOWN__ __UNKNOWN__ 3 195477791 195477791 __UNKNOWN__ Silent SNP G G A rs2291652 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:195477791G>A ENST00000346145.4 - 22 3171 c.3132C>T c.(3130-3132)atC>atT p.I1044I MUC4_ENST00000463781.3_Silent_p.I5280I|MUC4_ENST00000475231.1_Silent_p.I5228I|MUC4_ENST00000349607.4_Silent_p.I993I NM_004532.5 NP_004523.3 Q99102 MUC4_HUMAN mucin 4, cell surface associated 2037 NA cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982) ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) CTTCCCCGGAGATGGGCTGGA 0.637 NA .||| 2034 0.40615 0.0787 0.4179 5008 , , NA 11844 0.7679 NA 0.4583 False NA ,,, NA NA NA 2504 0.4141 NA NA NA NA 0 G ,, 658,3748 276.6+/-273.2 54,550,1599 64 57 60 3132,15840,2979 3 0.9 3 dbSNP_100 60 3871,4729 540.4+/-383.8 868,2135,1297 no coding-synonymous,coding-synonymous,coding-synonymous MUC4 NM_004532.5,NM_018406.6,NM_138297.4 ,, 922,2685,2896 AA,AG,GG 45.0116,14.9342,34.8224 ,, 1044/1177,5280/5413,993/1126 195477791 4529,8477 2203 4300 6503 SO:0001819 synonymous_variant AJ276359 CCDS3310.1, CCDS3311.1, CCDS54700.1 3q29 2007-01-19 2006-03-14 ENSG00000145113 ENSG00000145113 4585 Mucins 7514 protein-coding gene gene with protein product 158372 mucin 4, tracheobronchial NA 1673336 Standard NM_018406 NM_004532 NA Approved uc021xjp.1 Q99102 OTTHUMG00000151827 ENST00000346145.4:c.3132C>T chr3.hg19:g.195477791G>A NA O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81 hg19 CCDS3310.1 0.02 1.865415 GGAxATG COVERED NOVEL MUC4-015 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000341862.1 1 5.955511 KEEP 0 1 35 32 1152 GG 0.999998 0.997161 0 - 10 60 335 0 0 25.743494 61 60 2258 125 ENST00000346145.4 0.140845 0.997163 MUC4 4585 __UNKNOWN__ __UNKNOWN__ 3 195484244 195484244 __UNKNOWN__ Intron SNP G G A rs2550270 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:195484244G>A ENST00000346145.4 - 17 2318 MUC4_ENST00000463781.3_Intron|MUC4_ENST00000475231.1_Intron|MUC4_ENST00000349607.4_Intron NM_004532.5 NP_004523.3 Q99102 MUC4_HUMAN mucin 4, cell surface associated NA NA cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982) ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GAGACTCCTCGGCTCTGTGGT 0.572 NA .||| 3302 0.659345 0.4274 0.634 5008 , , NA 14653 0.8095 NA 0.826 False NA ,,, NA NA NA 2504 0.6646 NA NA NA NA 0 A ,, 2102,2304 494,1114,595 37 37 37 ,, -7.3 0 3 dbSNP_100 37 7023,1577 2879,1265,156 no intron,intron,intron MUC4 NM_004532.5,NM_018406.6,NM_138297.4 ,, 3373,2379,751 AA,AG,GG 18.3372,47.7077,29.8401 ,, ,, 195484244 9125,3881 2203 4300 6503 SO:0001627 intron_variant AJ276359 CCDS3310.1, CCDS3311.1, CCDS54700.1 3q29 2007-01-19 2006-03-14 ENSG00000145113 ENSG00000145113 4585 Mucins 7514 protein-coding gene gene with protein product 158372 mucin 4, tracheobronchial NA 1673336 Standard NM_018406 NM_004532 NA Approved uc021xjp.1 Q99102 OTTHUMG00000151827 ENST00000346145.4:c.2279-45C>T chr3.hg19:g.195484244G>A NA O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81 hg19 CCDS3310.1 0.02 2.199792 CTCxGCT COVERED NOVEL MUC4-015 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000341862.1 0 6.319859 KEEP 0 0 0 21 705 GG 0.999869 0.994953 0 - 10 60 375 0 0 30.010242 57 60 2072 100 ENST00000346145.4 0.149254 0.995084 MUC4 4585 __UNKNOWN__ __UNKNOWN__ 3 195495916 195495916 __UNKNOWN__ Missense_Mutation SNP G G C rs2550240 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:195495916G>C ENST00000346145.4 - 6 837 c.798C>G c.(796-798)aaC>aaG p.N266K MUC4_ENST00000463781.3_Missense_Mutation_p.N4502K|MUC4_ENST00000475231.1_Missense_Mutation_p.N4450K|MUC4_ENST00000349607.4_Missense_Mutation_p.N215K NM_004532.5 NP_004523.3 Q99102 MUC4_HUMAN mucin 4, cell surface associated 1259 NA cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982) ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) TGAGCACCGGGTTGCCTGAGC 0.622 NA .||| 2147 0.428714 0.1581 0.438 5008 , , NA 19055 0.7659 NA 0.4423 False NA ,,, NA NA NA 2504 0.4264 NA NA NA NA 0 G LYS/ASN,LYS/ASN,LYS/ASN 922,3484 91,740,1372 67 54 59 798,13506,645 3.4 0.1 3 dbSNP_100 59 3745,4855 840,2065,1395 no missense,missense,missense MUC4 NM_004532.5,NM_018406.6,NM_138297.4 94,94,94 931,2805,2767 CC,CG,GG 43.5465,20.926,35.8834 possibly-damaging,possibly-damaging,possibly-damaging 266/1177,4502/5413,215/1126 195495916 4667,8339 2203 4300 6503 SO:0001583 missense AJ276359 CCDS3310.1, CCDS3311.1, CCDS54700.1 3q29 2007-01-19 2006-03-14 ENSG00000145113 ENSG00000145113 4585 Mucins 7514 protein-coding gene gene with protein product 158372 mucin 4, tracheobronchial NA 1673336 Standard NM_018406 NM_004532 NA Approved uc021xjp.1 Q99102 OTTHUMG00000151827 ENST00000346145.4:c.798C>G chr3.hg19:g.195495916G>C ENSP00000304207:p.Asn266Lys NA O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81 hg19 CCDS3310.1 0.02 10.152272 CGGxTTG COVERED 977 0.44734432234432236 78 0.15853658536585366 152 0.4198895027624309 412 0.7202797202797203 335 0.4419525065963061 . 6.319 0.426881 0.11987 0.20926 0.435465 ENSG00000145113 ENST00000349607;ENST00000346145;ENST00000463781;ENST00000475231;ENST00000392409 T;T;T;T 0.72051 -0.62;-0.62;-0.62;-0.62 5.5 3.37 0.38596 Nidogen, extracellular domain (3); 0.550562 0.17475 N 0.172932 T 0.00012 0.0000 M 0.73598 2.24 0.80722 P 0.0 P;B;B;B 0.51791 0.948;0.082;0.079;0.037 P;B;B;B 0.57911 0.829;0.081;0.033;0.033 T 0.48151 -0.9060 9 0.12430 T 0.62 -29.412 9.3513 0.38140 0.1583:0.1257:0.716:0.0 rs2550240;rs3749332;rs60021717;rs2550240 4374;1259;215;266 E7ESK3;Q99102;Q99102-12;Q99102-13 .;MUC4_HUMAN;.;. K 215;266;4502;4450;1228 ENSP00000338109:N215K;ENSP00000304207:N266K;ENSP00000417498:N4502K;ENSP00000420243:N4450K ENSP00000304207:N266K N - 3 2 MUC4 196981550 0.001000 0.12720 0.130000 0.21974 0.019000 0.09904 0.759000 0.26461 1.349000 0.45751 0.540000 0.68198 AAC NOVEL MUC4-015 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000341862.1 1 7.360722 KEEP 0 1 39 38 1338 GG 1 1 0 - 23 60 874 0 0 66.024449 205 60 7454 331 ENST00000346145.4 0.100877 1 MUC4 4585 __UNKNOWN__ __UNKNOWN__ 3 195497174 195497174 __UNKNOWN__ Missense_Mutation SNP C C G rs2259102 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:195497174C>G ENST00000346145.4 - 5 642 c.603G>C c.(601-603)atG>atC p.M201I MUC4_ENST00000463781.3_Missense_Mutation_p.M4437I|MUC4_ENST00000475231.1_Intron|MUC4_ENST00000349607.4_Missense_Mutation_p.M150I NM_004532.5 NP_004523.3 Q99102 MUC4_HUMAN mucin 4, cell surface associated 1194 NA cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982) ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) CGTTGTTTGTCATCTTTCTAA 0.557 NA .||| 4148 0.828275 0.9924 0.7118 5008 , , NA 17443 0.8175 NA 0.8439 False NA ,,, NA NA NA 2504 0.684 NA NA NA NA 0 G ILE/MET,ILE/MET,ILE/MET 4246,160 2049,148,6 83 74 77 450,13311,603 -1.6 0 3 dbSNP_100 77 7088,1512 2938,1212,150 no missense,missense,missense MUC4 NM_138297.4,NM_018406.6,NM_004532.5 10,10,10 4987,1360,156 GG,GC,CC 17.5814,3.6314,12.8556 benign,benign,benign 150/1126,4437/5413,201/1177 195497174 11334,1672 2203 4300 6503 SO:0001583 missense AJ276359 CCDS3310.1, CCDS3311.1, CCDS54700.1 3q29 2007-01-19 2006-03-14 ENSG00000145113 ENSG00000145113 4585 Mucins 7514 protein-coding gene gene with protein product 158372 mucin 4, tracheobronchial NA 1673336 Standard NM_018406 NM_004532 NA Approved uc021xjp.1 Q99102 OTTHUMG00000151827 ENST00000346145.4:c.603G>C chr3.hg19:g.195497174C>G ENSP00000304207:p.Met201Ile NA O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81 hg19 CCDS3310.1 0.02 7.435768 TGTxATC COVERED 1827 0.8365384615384616 486 0.9878048780487805 256 0.7071823204419889 449 0.784965034965035 636 0.8390501319261213 . 7.125 0.578731 0.13686 0.963686 0.824186 ENSG00000145113 ENST00000349607;ENST00000346145;ENST00000463781;ENST00000392409 T;T;T 0.36699 1.24;1.61;1.56 4.9 -1.59 0.08453 Nidogen, extracellular domain (2); 0.603405 0.15791 N 0.244440 T 0.00012 0.0000 N 0.03608 -0.345 0.80722 P 0.0 B;B;B;B 0.10296 0.003;0.0;0.0;0.0 B;B;B;B 0.01281 0.0;0.0;0.0;0.0 T 0.11155 -1.0599 9 0.33141 T 0.24 -3.6417 2.1549 0.03810 0.3875:0.1151:0.372:0.1254 rs2259102;rs52822733;rs2259102 4309;1194;150;201 E7ESK3;Q99102;Q99102-12;Q99102-13 .;MUC4_HUMAN;.;. I 150;201;4437;1163 ENSP00000338109:M150I;ENSP00000304207:M201I;ENSP00000417498:M4437I ENSP00000304207:M201I M - 3 0 MUC4 196982808 0.000000 0.05858 0.000000 0.03702 0.022000 0.10575 -0.959000 0.03853 -0.593000 0.05844 -0.809000 0.03173 ATG NOVEL MUC4-015 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000341862.1 0 5.653882 KEEP 0 1 35 31 1090 CC 0.999997 0.999997 0 - 11 60 433 0 0 30.738447 163 60 6144 263 ENST00000346145.4 0.063218 1 MUC4 4585 __UNKNOWN__ __UNKNOWN__ 3 195497743 195497743 __UNKNOWN__ Intron SNP T T C rs2260685 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:195497743T>C ENST00000346145.4 - 5 574 MUC4_ENST00000463781.3_Intron|MUC4_ENST00000475231.1_Intron|MUC4_ENST00000349607.4_Intron NM_004532.5 NP_004523.3 Q99102 MUC4_HUMAN mucin 4, cell surface associated NA NA cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982) ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) CTTGTTAGGATAGACCCCCTA 0.527 NA .||| 2213 0.441893 0.1573 0.4323 5008 , , NA 18698 0.7619 NA 0.4712 False NA ,,, NA NA NA 2504 0.4734 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ276359 CCDS3310.1, CCDS3311.1, CCDS54700.1 3q29 2007-01-19 2006-03-14 ENSG00000145113 ENSG00000145113 4585 Mucins 7514 protein-coding gene gene with protein product 158372 mucin 4, tracheobronchial NA 1673336 Standard NM_018406 NM_004532 NA Approved uc021xjp.1 Q99102 OTTHUMG00000151827 ENST00000346145.4:c.535-501A>G chr3.hg19:g.195497743T>C NA O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81 hg19 CCDS3310.1 0.02 9.960653 GGAxAGA COVERED NOVEL MUC4-015 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000341862.1 1 8.725742 KEEP 0 0 0 29 887 TT 0.999997 0.999997 0 - 14 60 540 0 0 38.532257 190 60 6884 304 ENST00000346145.4 0.068627 1 MUC4 4585 __UNKNOWN__ __UNKNOWN__ 3 195497809 195497809 __UNKNOWN__ Intron SNP T T C rs2259153 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:195497809T>C ENST00000346145.4 - 5 574 MUC4_ENST00000463781.3_Intron|MUC4_ENST00000475231.1_Intron|MUC4_ENST00000349607.4_Intron NM_004532.5 NP_004523.3 Q99102 MUC4_HUMAN mucin 4, cell surface associated NA NA cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982) ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) CCGTCACCTGTAGGTCTTCTC 0.572 NA .||| 3510 0.700879 0.8464 0.5951 5008 , , NA 18295 0.7679 NA 0.662 False NA ,,, NA NA NA 2504 0.5501 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ276359 CCDS3310.1, CCDS3311.1, CCDS54700.1 3q29 2007-01-19 2006-03-14 ENSG00000145113 ENSG00000145113 4585 Mucins 7514 protein-coding gene gene with protein product 158372 mucin 4, tracheobronchial NA 1673336 Standard NM_018406 NM_004532 NA Approved uc021xjp.1 Q99102 OTTHUMG00000151827 ENST00000346145.4:c.535-567A>G chr3.hg19:g.195497809T>C NA O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81 hg19 CCDS3310.1 0.02 4.962592 CTGxAGG COVERED NOVEL MUC4-015 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000341862.1 0 3.911292 KEEP 0 0 0 13 391 TT 0.994391 0.994372 0 - 6 60 232 0 0 16.103067 98 60 3389 125 ENST00000346145.4 0.057692 0.999981 MUC4 4585 __UNKNOWN__ __UNKNOWN__ 3 195501149 195501149 __UNKNOWN__ Missense_Mutation SNP C C T rs2259292 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:195501149C>T ENST00000346145.4 - 3 302 c.263G>A c.(262-264)gGc>gAc p.G88D MUC4_ENST00000463781.3_Missense_Mutation_p.G4324D|MUC4_ENST00000475231.1_Missense_Mutation_p.G4324D|MUC4_ENST00000349607.4_Missense_Mutation_p.G37D NM_004532.5 NP_004523.3 Q99102 MUC4_HUMAN mucin 4, cell surface associated 1081 NA cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982) ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GTCCCCGGCGCCTGCCCCATA 0.622 NA .||| 2936 0.586262 0.556 0.5058 5008 , , NA 15396 0.7609 NA 0.5805 False NA ,,, NA NA NA 2504 0.5102 NA NA NA NA 0 C ASP/GLY,ASP/GLY,ASP/GLY 2582,1824 629.6+/-395.3 763,1056,384 40 45 43 263,12971,110 -2.1 0 3 dbSNP_100 43 4991,3609 619.0+/-396.9 1451,2089,760 yes missense,missense,missense MUC4 NM_004532.5,NM_018406.6,NM_138297.4 94,94,94 2214,3145,1144 TT,TC,CC 41.9651,41.3981,41.773 possibly-damaging,possibly-damaging,possibly-damaging 88/1177,4324/5413,37/1126 195501149 7573,5433 2203 4300 6503 SO:0001583 missense AJ276359 CCDS3310.1, CCDS3311.1, CCDS54700.1 3q29 2007-01-19 2006-03-14 ENSG00000145113 ENSG00000145113 4585 Mucins 7514 protein-coding gene gene with protein product 158372 mucin 4, tracheobronchial NA 1673336 Standard NM_018406 NM_004532 NA Approved uc021xjp.1 Q99102 OTTHUMG00000151827 ENST00000346145.4:c.263G>A chr3.hg19:g.195501149C>T ENSP00000304207:p.Gly88Asp NA O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81 hg19 CCDS3310.1 0.02 1.900472 GCGxCTG COVERED 1318 0.6034798534798534 296 0.6016260162601627 174 0.48066298342541436 409 0.715034965034965 439 0.579155672823219 C 10.19 1.281055 0.23392 0.586019 0.580349 ENSG00000145113 ENST00000349607;ENST00000346145;ENST00000463781;ENST00000475231;ENST00000392409 T;T;T;T 0.37584 1.19;1.57;1.54;1.55 4.55 -2.14 0.07123 . 2.002740 0.02572 N 0.097910 T 0.00012 0.0000 N 0.11427 0.14 0.80722 P 0.0 P;B;B;B 0.34977 0.478;0.055;0.006;0.006 B;B;B;B 0.31191 0.125;0.012;0.012;0.012 T 0.44174 -0.9345 9 0.13108 T 0.6 . 0.1989 0.00143 0.267:0.2154:0.262:0.2557 rs2259292;rs2259292 4196;1081;37;88 E7ESK3;Q99102;Q99102-12;Q99102-13 .;MUC4_HUMAN;.;. D 37;88;4324;4324;1050 ENSP00000338109:G37D;ENSP00000304207:G88D;ENSP00000417498:G4324D;ENSP00000420243:G4324D ENSP00000304207:G88D G - 2 0 MUC4 196986783 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -2.510000 0.00959 -0.309000 0.08779 0.638000 0.83543 GGC NOVEL MUC4-015 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000341862.1 0 6.320569 KEEP 0 0 0 21 766 CC 0.999869 0.994953 0 - 7 60 245 0 0 18.100212 60 60 2186 117 ENST00000346145.4 0.104478 0.995084 MUC4 4585 __UNKNOWN__ __UNKNOWN__ 3 195505417 195505417 __UNKNOWN__ Intron SNP G G A rs2259419 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:195505417G>A ENST00000346145.4 - 2 122 MUC4_ENST00000463781.3_Intron|MUC4_ENST00000475231.1_Intron|MUC4_ENST00000349607.4_Intron NM_004532.5 NP_004523.3 Q99102 MUC4_HUMAN mucin 4, cell surface associated NA NA cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982) ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GCTGGAAGAGGGAGCTGGAAA 0.488 NA .||| 2526 0.504393 0.4213 0.4611 5008 , , NA 8693 0.7569 NA 0.5875 False NA ,,, NA NA NA 2504 0.3016 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ276359 CCDS3310.1, CCDS3311.1, CCDS54700.1 3q29 2007-01-19 2006-03-14 ENSG00000145113 ENSG00000145113 4585 Mucins 7514 protein-coding gene gene with protein product 158372 mucin 4, tracheobronchial NA 1673336 Standard NM_018406 NM_004532 NA Approved uc021xjp.1 Q99102 OTTHUMG00000151827 ENST00000346145.4:c.83-91C>T chr3.hg19:g.195505417G>A NA O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81 hg19 CCDS3310.1 0.02 2.378638 GAGxGAG COVERED NOVEL MUC4-015 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000341862.1 1 4.213106 KEEP 0 0 0 14 471 GG 0.995343 0.979578 0 - 7 60 260 0 0 20.064606 51 60 1839 79 ENST00000346145.4 0.12069 0.984161 MUC4 4585 __UNKNOWN__ __UNKNOWN__ 3 195505717 195505717 __UNKNOWN__ Intron SNP C C A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:195505717C>A ENST00000346145.4 - 2 122 MUC4_ENST00000463781.3_Missense_Mutation_p.S4245I|MUC4_ENST00000475231.1_Missense_Mutation_p.S4245I|MUC4_ENST00000349607.4_Intron NM_004532.5 NP_004523.3 Q99102 MUC4_HUMAN mucin 4, cell surface associated NA NA cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982) ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) TGAGGTAGCACTGCTGACAGC 0.582 NA NA NA NA NA NA NA NA NA NA NA 0 59 61 60 NA NA 3 NA 195505717 2121 4204 6325 SO:0001627 intron_variant AJ276359 CCDS3310.1, CCDS3311.1, CCDS54700.1 3q29 2007-01-19 2006-03-14 ENSG00000145113 ENSG00000145113 4585 Mucins 7514 protein-coding gene gene with protein product 158372 mucin 4, tracheobronchial NA 1673336 Standard NM_018406 NM_004532 NA Approved uc021xjp.1 Q99102 OTTHUMG00000151827 ENST00000346145.4:c.83-391G>T chr3.hg19:g.195505717C>A NA O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81 hg19 CCDS3310.1 0.02 1.927824 GCAxTGC COVERED . . . . . . . . . . c 5.890 0.348266 0.11126 . . ENSG00000145113 ENST00000463781;ENST00000475231;ENST00000392409 T;T 0.37584 1.19;1.23 1.85 -0.309 0.12769 . . . . . T 0.24236 0.0587 L 0.38175 1.15 0.09310 N 1 B;P 0.52061 0.1;0.95 B;B 0.43194 0.094;0.411 T 0.12218 -1.0556 8 . . . -0.404 3.1693 0.06546 0.0:0.5316:0.2802:0.1882 . 4117;1002 E7ESK3;Q99102 .;MUC4_HUMAN I 4245;4245;971 ENSP00000417498:S4245I;ENSP00000420243:S4245I . S - 2 0 MUC4 196990496 0.000000 0.05858 0.001000 0.08648 0.002000 0.02628 -0.603000 0.05674 -0.094000 0.12374 0.493000 0.49557 AGT NOVEL MUC4-015 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000341862.1 0 5.718986 KEEP 0 0 0 19 708 CC 0.99986 0.999808 0 - 4 60 142 0 0 8.874223 93 60 3547 156 ENST00000346145.4 0.041237 0.999948 MUC4 4585 __UNKNOWN__ __UNKNOWN__ 3 195511590 195511590 __UNKNOWN__ Intron SNP A A G rs3103955 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:195511590A>G ENST00000346145.4 - 2 122 MUC4_ENST00000463781.3_Silent_p.T2287T|MUC4_ENST00000475231.1_Silent_p.T2287T|MUC4_ENST00000349607.4_Intron NM_004532.5 NP_004523.3 Q99102 MUC4_HUMAN mucin 4, cell surface associated NA NA cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982) ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) CAGGAAGAGGAGTGGTGTCAC 0.597 NA .||| 3815 0.761781 0.9849 0.5965 5008 , , NA 10389 0.7371 NA 0.7962 False NA ,,, NA NA NA 2504 0.5675 NA NA NA NA 0 8 12 11 NA NA 3 NA 195511590 570 1503 2073 SO:0001627 intron_variant AJ276359 CCDS3310.1, CCDS3311.1, CCDS54700.1 3q29 2007-01-19 2006-03-14 ENSG00000145113 ENSG00000145113 4585 Mucins 7514 protein-coding gene gene with protein product 158372 mucin 4, tracheobronchial NA 1673336 Standard NM_018406 NM_004532 NA Approved uc021xjp.1 Q99102 OTTHUMG00000151827 ENST00000346145.4:c.83-6264T>C chr3.hg19:g.195511590A>G NA O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81 hg19 CCDS3310.1 0.02 -0.270409 AGGxGTG COVERED NOVEL MUC4-015 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000341862.1 1 2.407214 KEEP 0 0 0 8 249 AA 0.99257 0.711986 0 - 3 60 106 0 0 7.805272 27 60 892 51 ENST00000346145.4 0.1 0.717315 MUC4 4585 __UNKNOWN__ __UNKNOWN__ 3 195515594 195515594 __UNKNOWN__ Intron SNP C C G rs13095016 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:195515594C>G ENST00000346145.4 - 2 122 MUC4_ENST00000463781.3_Missense_Mutation_p.E953Q|MUC4_ENST00000475231.1_Missense_Mutation_p.E953Q|MUC4_ENST00000349607.4_Intron NM_004532.5 NP_004523.3 Q99102 MUC4_HUMAN mucin 4, cell surface associated NA NA cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982) ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GTGTGGGTCTCGGTTTGTGGA 0.572 NA .||| 3610 0.720847 0.6104 0.6758 5008 , , NA 24304 0.8274 NA 0.8519 False NA ,,, NA NA NA 2504 0.6575 NA NA NA NA 0 GLN/GLU,, 2854,1500 923,1008,246 152 156 155 2857,, -2.6 0 3 dbSNP_121 155 7071,1443 2954,1163,140 yes missense,intron,intron MUC4 NM_018406.6,NM_004532.5,NM_138297.4 29,, 3877,2171,386 GG,GC,CC 16.9486,34.4511,22.8707 probably-damaging,, 953/5413,, 195515594 9925,2943 2177 4257 6434 SO:0001627 intron_variant AJ276359 CCDS3310.1, CCDS3311.1, CCDS54700.1 3q29 2007-01-19 2006-03-14 ENSG00000145113 ENSG00000145113 4585 Mucins 7514 protein-coding gene gene with protein product 158372 mucin 4, tracheobronchial NA 1673336 Standard NM_018406 NM_004532 NA Approved uc021xjp.1 Q99102 OTTHUMG00000151827 ENST00000346145.4:c.83-10268G>C chr3.hg19:g.195515594C>G NA O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81 hg19 CCDS3310.1 0.02 9.793747 TCTxGGT COVERED 1648 0.7545787545787546 302 0.6138211382113821 246 0.6795580110497238 456 0.7972027972027972 644 0.8496042216358839 c 6.981 0.551119 0.13374 0.655489 0.830514 ENSG00000145113 ENST00000463781;ENST00000475231;ENST00000392409 T;T 0.28454 1.63;1.61 2.78 -2.59 0.06209 . 5.315420 0.00754 N 0.001088 T 0.00012 0.0000 . . . 0.80722 P 0.0 D 0.54601 0.967 P 0.45753 0.492 T 0.52555 -0.8560 8 0.12430 T 0.62 . 1.0344 0.01545 0.2031:0.3942:0.2031:0.1997 rs13095016;rs52835978;rs58419641;rs13095016 953 E7ESK3 . Q 953;953;927 ENSP00000417498:E953Q;ENSP00000420243:E953Q ENSP00000376209:E927Q E - 1 0 MUC4 196999989 0.000000 0.05858 0.000000 0.03702 0.176000 0.22953 -3.147000 0.00583 -0.511000 0.06514 0.579000 0.79373 GAG NOVEL MUC4-015 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000341862.1 1 10.231952 KEEP 0 0 0 34 1119 CC 0.999998 0.999998 0 - 18 60 672 0 0 48.642209 205 60 7416 311 ENST00000346145.4 0.080717 1 MUC4 4585 __UNKNOWN__ __UNKNOWN__ 3 195516878 195516878 __UNKNOWN__ Intron SNP T T C rs2177336 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:195516878T>C ENST00000346145.4 - 2 122 MUC4_ENST00000463781.3_Missense_Mutation_p.T525A|MUC4_ENST00000475231.1_Missense_Mutation_p.T525A|MUC4_ENST00000349607.4_Intron NM_004532.5 NP_004523.3 Q99102 MUC4_HUMAN mucin 4, cell surface associated NA NA cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982) ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GTGCCAGCTGTCCCTGTAGAT 0.522 NA t||| 3867 0.772165 0.8056 0.6787 5008 , , NA 18277 0.8155 NA 0.84 False NA ,,, NA NA NA 2504 0.6789 NA NA NA NA 0 ,,ALA/THR 3236,696 1327,582,57 119 112 114 ,,1573 -2.8 0 3 dbSNP_96 114 6835,1463 2826,1183,140 yes intron,intron,missense MUC4 NM_004532.5,NM_138297.4,NM_018406.6 ,,58 4153,1765,197 CC,CT,TT 17.6308,17.7009,17.6533 ,,benign ,,525/5413 195516878 10071,2159 1966 4149 6115 SO:0001627 intron_variant AJ276359 CCDS3310.1, CCDS3311.1, CCDS54700.1 3q29 2007-01-19 2006-03-14 ENSG00000145113 ENSG00000145113 4585 Mucins 7514 protein-coding gene gene with protein product 158372 mucin 4, tracheobronchial NA 1673336 Standard NM_018406 NM_004532 NA Approved uc021xjp.1 Q99102 OTTHUMG00000151827 ENST00000346145.4:c.83-11552A>G chr3.hg19:g.195516878T>C NA O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81 hg19 CCDS3310.1 0.02 11.281986 CTGxCCC COVERED 1734 0.7939560439560439 405 0.823170731707317 245 0.6767955801104972 449 0.784965034965035 635 0.837730870712401 - 3.656 -0.070489 0.07228 0.822991 0.823692 ENSG00000145113 ENST00000463781;ENST00000475231;ENST00000392409 T;T 0.25414 1.83;1.8 1.8 -2.77 0.05877 . 251.269000 0.00496 N 0.000146 T 0.00012 0.0000 . . . 0.80722 P 0.0 B 0.21225 0.053 B 0.13407 0.009 T 0.39014 -0.9634 8 0.02654 T 1 . 2.6995 0.05144 0.0:0.2385:0.2589:0.5027 rs2177336;rs3749328;rs52824867;rs60804498;rs2177336 525 E7ESK3 . A 525;525;499 ENSP00000417498:T525A;ENSP00000420243:T525A ENSP00000376209:T499A T - 1 0 MUC4 197001273 0.000000 0.05858 0.000000 0.03702 0.012000 0.07955 -3.870000 0.00346 -0.519000 0.06444 0.434000 0.28630 ACA NOVEL MUC4-015 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000341862.1 3 4.950537 KEEP 0 1 39 30 928 TT 0.999997 0.999997 0 - 18 60 669 0 0 46.481376 262 60 9288 358 ENST00000346145.4 0.064286 1 MUC4 4585 __UNKNOWN__ __UNKNOWN__ 3 195517258 195517258 __UNKNOWN__ Intron SNP G G A rs1106502 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:195517258G>A ENST00000346145.4 - 2 122 MUC4_ENST00000463781.3_Missense_Mutation_p.T398I|MUC4_ENST00000475231.1_Missense_Mutation_p.T398I|MUC4_ENST00000349607.4_Intron NM_004532.5 NP_004523.3 Q99102 MUC4_HUMAN mucin 4, cell surface associated NA NA cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982) ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197) p.T398I(2) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GTCTCTGGAGGTTGGCATTCT 0.448 NA g||| 3868 0.772364 0.8056 0.6787 5008 , , NA 22304 0.8165 NA 0.84 False NA ,,, NA NA NA 2504 0.6789 NA NA NA NA 2 Substitution - Missense(2) stomach(2) ,,ILE/THR 3198,672 1320,558,57 169 155 159 ,,1193 0.8 0 3 dbSNP_86 159 6818,1458 2820,1178,140 no intron,intron,missense MUC4 NM_004532.5,NM_138297.4,NM_018406.6 ,,89 4140,1736,197 AA,AG,GG 17.6172,17.3643,17.5366 ,,benign ,,398/5413 195517258 10016,2130 1935 4138 6073 SO:0001627 intron_variant AJ276359 CCDS3310.1, CCDS3311.1, CCDS54700.1 3q29 2007-01-19 2006-03-14 ENSG00000145113 ENSG00000145113 4585 Mucins 7514 protein-coding gene gene with protein product 158372 mucin 4, tracheobronchial NA 1673336 Standard NM_018406 NM_004532 NA Approved uc021xjp.1 Q99102 OTTHUMG00000151827 ENST00000346145.4:c.83-11932C>T chr3.hg19:g.195517258G>A NA O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81 hg19 CCDS3310.1 0.02 13.812809 GAGxTTG COVERED 1736 0.7948717948717948 405 0.823170731707317 245 0.6767955801104972 451 0.7884615384615384 635 0.837730870712401 - 3.375 -0.127563 0.06753 0.826357 0.823828 ENSG00000145113 ENST00000463781;ENST00000475231;ENST00000392409 T;T 0.24908 1.85;1.83 2.76 0.754 0.18410 . 1.908910 0.03469 U 0.213387 T 0.00012 0.0000 . . . 0.80722 P 0.0 B 0.22346 0.068 B 0.20767 0.031 T 0.30208 -0.9986 8 0.21540 T 0.41 . 3.5665 0.07901 0.1661:0.2591:0.5748:0.0 rs1106502;rs2688516;rs3749326;rs17129166;rs52794470;rs58857147;rs1106502 398 E7ESK3 . I 398;398;372 ENSP00000417498:T398I;ENSP00000420243:T398I ENSP00000376209:T372I T - 2 0 MUC4 197001653 0.000000 0.05858 0.000000 0.03702 0.015000 0.08874 -1.550000 0.02180 0.190000 0.20209 0.531000 0.56144 ACC NOVEL MUC4-015 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000341862.1 3 8.427129 KEEP 0 0 0 28 965 GG 0.999997 0.999997 0 - 32 60 1152 0 0 85.385448 289 60 10436 406 ENST00000346145.4 0.099688 1 MUC4 4585 __UNKNOWN__ __UNKNOWN__ 3 195517321 195517321 __UNKNOWN__ Intron SNP G G A rs1104760 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:195517321G>A ENST00000346145.4 - 2 122 MUC4_ENST00000463781.3_Missense_Mutation_p.T377I|MUC4_ENST00000475231.1_Missense_Mutation_p.T377I|MUC4_ENST00000349607.4_Intron NM_004532.5 NP_004523.3 Q99102 MUC4_HUMAN mucin 4, cell surface associated NA NA cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982) ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) AGGGGATGAGGTGGTTGTTTC 0.463 NA g||| 3867 0.772165 0.8056 0.6787 5008 , , NA 23119 0.8155 NA 0.84 False NA ,,, NA NA NA 2504 0.6789 NA NA NA NA 0 ,,ILE/THR 3228,684 1329,570,57 226 208 214 ,,1130 -0.9 0 3 dbSNP_86 214 6826,1458 2824,1178,140 yes intron,intron,missense MUC4 NM_004532.5,NM_138297.4,NM_018406.6 ,,89 4153,1748,197 AA,AG,GG 17.6002,17.4847,17.5631 ,,benign ,,377/5413 195517321 10054,2142 1956 4142 6098 SO:0001627 intron_variant AJ276359 CCDS3310.1, CCDS3311.1, CCDS54700.1 3q29 2007-01-19 2006-03-14 ENSG00000145113 ENSG00000145113 4585 Mucins 7514 protein-coding gene gene with protein product 158372 mucin 4, tracheobronchial NA 1673336 Standard NM_018406 NM_004532 NA Approved uc021xjp.1 Q99102 OTTHUMG00000151827 ENST00000346145.4:c.83-11995C>T chr3.hg19:g.195517321G>A NA O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81 hg19 CCDS3310.1 0.02 13.773084 GAGxTGG COVERED 1734 0.7939560439560439 405 0.823170731707317 245 0.6767955801104972 449 0.784965034965035 635 0.837730870712401 - 2.013 -0.426706 0.04701 0.825153 0.823998 ENSG00000145113 ENST00000463781;ENST00000475231;ENST00000392409 T;T 0.28069 1.64;1.63 2.31 -0.914 0.10497 . 0.847439 0.09838 U 0.749193 T 0.00012 0.0000 . . . 0.80722 P 0.0 B 0.24920 0.114 B 0.32342 0.144 T 0.16660 -1.0395 8 0.25751 T 0.34 . 4.5349 0.12024 0.1486:0.4493:0.4021:0.0 rs1104760;rs2688517;rs3749325;rs17129163;rs52825849;rs58689588;rs1104760 377 E7ESK3 . I 377;377;351 ENSP00000417498:T377I;ENSP00000420243:T377I ENSP00000376209:T351I T - 2 0 MUC4 197001716 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 0.100000 0.15231 -0.201000 0.10284 -0.302000 0.09304 ACC NOVEL MUC4-015 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000341862.1 7 7.158173 KEEP 0 1 32 35 1221 GG 0.999999 0.999999 0 - 32 60 1153 0 0 84.190359 316 60 11660 456 ENST00000346145.4 0.091954 1 MUC4 4585 __UNKNOWN__ __UNKNOWN__ 3 195517553 195517553 __UNKNOWN__ Intron SNP A A C rs882605 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:195517553A>C ENST00000346145.4 - 2 122 MUC4_ENST00000463781.3_Missense_Mutation_p.F300V|MUC4_ENST00000475231.1_Missense_Mutation_p.F300V|MUC4_ENST00000349607.4_Intron NM_004532.5 NP_004523.3 Q99102 MUC4_HUMAN mucin 4, cell surface associated NA NA cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982) ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) TCTGGATCAAATGTTACTAAG 0.488 NA N||| 3875 0.773762 0.8056 0.6873 5008 , , NA 22512 0.8155 NA 0.84 False NA ,,, NA NA NA 2504 0.681 NA NA NA NA 0 ,,VAL/PHE 3311,683 1371,569,57 189 177 181 ,,898 -7.1 0 3 dbSNP_86 181 6880,1462 2849,1182,140 yes intron,intron,missense MUC4 NM_004532.5,NM_138297.4,NM_018406.6 ,,50 4220,1751,197 CC,CA,AA 17.5258,17.1007,17.3881 ,,benign ,,300/5413 195517553 10191,2145 1997 4171 6168 SO:0001627 intron_variant AJ276359 CCDS3310.1, CCDS3311.1, CCDS54700.1 3q29 2007-01-19 2006-03-14 ENSG00000145113 ENSG00000145113 4585 Mucins 7514 protein-coding gene gene with protein product 158372 mucin 4, tracheobronchial NA 1673336 Standard NM_018406 NM_004532 NA Approved uc021xjp.1 Q99102 OTTHUMG00000151827 ENST00000346145.4:c.83-12227T>G chr3.hg19:g.195517553A>C NA O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81 hg19 CCDS3310.1 0.02 19.137482 CAAxTGT COVERED 1736 0.7948717948717948 405 0.823170731707317 247 0.6823204419889503 449 0.784965034965035 635 0.837730870712401 - 4.525 0.097521 0.08681 0.828993 0.824742 ENSG00000145113 ENST00000463781;ENST00000475231;ENST00000392409 T;T 0.26223 1.76;1.75 3.57 -7.14 0.01527 . . . . . T 0.00012 0.0000 . . . 0.80722 P 0.0 B 0.10296 0.003 B 0.01281 0.0 T 0.24297 -1.0164 7 0.11485 T 0.65 . 0.3444 0.00339 0.2942:0.1721:0.1511:0.3826 rs882605;rs17129158;rs52829510;rs61662302;rs882605 300 E7ESK3 . V 300;300;274 ENSP00000417498:F300V;ENSP00000420243:F300V ENSP00000376209:F274V F - 1 0 MUC4 197001948 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -4.306000 0.00256 -3.073000 0.00253 -1.750000 0.00680 TTT NOVEL MUC4-015 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000341862.1 2 9.363558 KEEP 0 1 34 43 1364 AA 1 1 0 - 23 60 880 0 0 60.066933 405 60 14715 547 ENST00000346145.4 0.053738 1 TNK2 10188 __UNKNOWN__ __UNKNOWN__ 3 195593784 195593784 __UNKNOWN__ Missense_Mutation SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:195593784C>T ENST00000333602.6 - 14 3703 c.3086G>A c.(3085-3087)gGc>gAc p.G1029D TNK2_ENST00000428187.1_Missense_Mutation_p.G1031D|TNK2_ENST00000381916.2_Missense_Mutation_p.G1077D|TNK2_ENST00000392400.1_Missense_Mutation_p.G1029D NM_005781.4 NP_005772.3 Q07912 ACK1_HUMAN tyrosine kinase, non-receptor, 2 1029 NA Missing (in Ref. 4; AAH08884). {ECO:0000305}. cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264) axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699) central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 29 all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;0.000757) Adenosine triphosphate(DB00171) GCCCCAGGAGCCCAGAAGGTG 0.677 NA NA NA NA NA NA NA NA NA NA NA 0 25 30 28 NA NA 3 NA 195593784 2194 4299 6493 SO:0001583 missense L13738 CCDS33927.1, CCDS33928.1 3q29 2013-09-02 ENSG00000061938 ENSG00000061938 10188 19297 protein-coding gene gene with protein product activated Cdc42-associated kinase 1 606994 NA 8497321, 14506255 Standard NM_005781 XM_006713460 NA Approved p21cdc42Hs, ACK, ACK1 uc003fvt.1 Q07912 OTTHUMG00000155737 ENST00000333602.6:c.3086G>A chr3.hg19:g.195593784C>T ENSP00000329425:p.Gly1029Asp NA Q6ZMQ0|Q8N6U7|Q96H59 hg19 CCDS33928.1 0.02 9.05295 GAGxCCA COVERED . . . . . . . . . . C 1.669 -0.509441 0.04231 . . ENSG00000061938 ENST00000333602;ENST00000381916;ENST00000416152;ENST00000428187;ENST00000392400 T;T;T;T;T 0.71461 -0.44;-0.57;3.3;-0.56;-0.44 5.85 2.52 0.30459 . 0.286495 0.37012 N 0.002299 T 0.22589 0.0545 N 0.00260 -1.75 0.80722 D 1 B;B;B;B 0.15719 0.0;0.001;0.001;0.014 B;B;B;B 0.16289 0.0;0.002;0.0;0.015 T 0.34428 -0.9829 10 0.02654 T 1 . 0.6522 0.00828 0.242:0.331:0.2391:0.1879 . 1029;1077;1031;556 Q07912;Q07912-3;C9J1X3;B3KXJ4 ACK1_HUMAN;.;.;. D 1029;1077;598;1031;1029 ENSP00000329425:G1029D;ENSP00000371341:G1077D;ENSP00000398614:G598D;ENSP00000392546:G1031D;ENSP00000376201:G1029D ENSP00000329425:G1029D G - 2 0 TNK2 197078181 1.000000 0.71417 0.997000 0.53966 0.995000 0.86356 3.725000 0.54970 0.728000 0.32382 0.655000 0.94253 GGC NOVEL TNK2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000341437.3 2 20.446024 KEEP 0 0 0 68 2396 CC 1 1 0 - 10 60 376 0 0 24.576995 217 60 7919 398 ENST00000333602.6 0.044053 1 TNK2 10188 __UNKNOWN__ __UNKNOWN__ 3 195606019 195606019 __UNKNOWN__ Silent SNP G G A rs3761718 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:195606019G>A ENST00000333602.6 - 7 1532 c.915C>T c.(913-915)cgC>cgT p.R305R TNK2_ENST00000428187.1_Silent_p.R337R|TNK2_ENST00000468819.1_5'UTR|TNK2_ENST00000381916.2_Silent_p.R368R|TNK2_ENST00000392400.1_Silent_p.R305R|TNK2_ENST00000316664.3_Silent_p.R305R NM_005781.4 NP_005772.3 Q07912 ACK1_HUMAN tyrosine kinase, non-receptor, 2 305 Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}. NA TRTFSHASDTWMFGVTLWEMFTYGQEPWIGLNGSQILHKID KEGERLPR -> PPWRDISASSSTQFPHAVPCFPTSLLAKL LLRHSVPASSREIKLVSILC (in Ref. 4; AAH08884). {ECO:0000305}. cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264) axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699) central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 29 all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;0.000757) Adenosine triphosphate(DB00171) GGGAGAAGGTGCGTGTCTTCA 0.612 NA G||| 403 0.0804712 0.0015 0.0605 5008 , , NA 15478 0.2808 NA 0.001 False NA ,,, NA NA NA 2504 0.0767 NA NA NA NA 0 G , 15,4391 22.3+/-47.3 0,15,2188 95 98 97 1104,915 -7.2 0.8 3 dbSNP_107 97 20,8580 14.0+/-48.4 0,20,4280 no coding-synonymous,coding-synonymous TNK2 NM_001010938.1,NM_005781.4 , 0,35,6468 AA,AG,GG 0.2326,0.3404,0.2691 , 368/1087,305/1039 195606019 35,12971 2203 4300 6503 SO:0001819 synonymous_variant L13738 CCDS33927.1, CCDS33928.1 3q29 2013-09-02 ENSG00000061938 ENSG00000061938 10188 19297 protein-coding gene gene with protein product activated Cdc42-associated kinase 1 606994 NA 8497321, 14506255 Standard NM_005781 XM_006713460 NA Approved p21cdc42Hs, ACK, ACK1 uc003fvt.1 Q07912 OTTHUMG00000155737 ENST00000333602.6:c.915C>T chr3.hg19:g.195606019G>A NA Q6ZMQ0|Q8N6U7|Q96H59 hg19 CCDS33928.1 0.02 8.05245 GGTxCGT COVERED 171 0.0782967032967033 1 0.0020325203252032522 18 0.049723756906077346 152 0.26573426573426573 0 0.0 G 9.208 1.030271 0.19512 0.003404 0.002326 ENSG00000061938 ENST00000438207 . . . 5.37 -7.22 0.01485 . . . . . T 0.00012 0.0000 . . . 0.09310 P 0.9999999999998976 . . . . . . T 0.35351 -0.9792 3 . . . . 1.5651 0.02602 0.3666:0.1743:0.3022:0.1569 rs3761718;rs17845844;rs17858815 . . . V 230 . . A - 2 0 TNK2 197090416 0.027000 0.19231 0.780000 0.31762 0.913000 0.54294 -0.886000 0.04157 -1.303000 0.02332 -1.840000 0.00586 GCA NOVEL TNK2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000341437.3 0 17.394434 KEEP 0 0 0 58 2031 GG 1 1 0 - 13 60 440 0 0 28.570801 215 60 8169 362 ENST00000333602.6 0.057018 1 TNK2 10188 __UNKNOWN__ __UNKNOWN__ 3 195609114 195609114 __UNKNOWN__ Missense_Mutation SNP T T C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:195609114T>C ENST00000333602.6 - 6 1312 c.695A>G c.(694-696)tAc>tGc p.Y232C TNK2_ENST00000428187.1_Missense_Mutation_p.Y264C|TNK2_ENST00000468819.1_Intron|TNK2_ENST00000381916.2_Missense_Mutation_p.Y295C|TNK2_ENST00000392400.1_Missense_Mutation_p.Y232C|TNK2_ENST00000316664.3_Missense_Mutation_p.Y232C NM_005781.4 NP_005772.3 Q07912 ACK1_HUMAN tyrosine kinase, non-receptor, 2 232 Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}. NA cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264) axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699) central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 29 all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;0.000757) Adenosine triphosphate(DB00171) CTGCACAGCGTAGCGGCTCAG 0.632 NA NA NA NA NA NA NA NA NA NA NA 0 93 80 84 NA NA 3 NA 195609114 2203 4300 6503 SO:0001583 missense L13738 CCDS33927.1, CCDS33928.1 3q29 2013-09-02 ENSG00000061938 ENSG00000061938 10188 19297 protein-coding gene gene with protein product activated Cdc42-associated kinase 1 606994 NA 8497321, 14506255 Standard NM_005781 XM_006713460 NA Approved p21cdc42Hs, ACK, ACK1 uc003fvt.1 Q07912 OTTHUMG00000155737 ENST00000333602.6:c.695A>G chr3.hg19:g.195609114T>C ENSP00000329425:p.Tyr232Cys NA Q6ZMQ0|Q8N6U7|Q96H59 hg19 CCDS33928.1 0.02 15.1436 GCGxAGC COVERED .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. T|T 19.90|19.90 3.912963|3.912963 0.72983|0.72983 .|. .|. ENSG00000061938|ENSG00000061938 ENST00000438207|ENST00000333602;ENST00000381916;ENST00000428187;ENST00000392400;ENST00000316664 .|T;T;T;T;T .|0.64260 .|-0.09;-0.09;-0.09;-0.09;-0.09 4.74|4.74 4.74|4.74 0.60224|0.60224 .|Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1); .|0.000000 .|0.85682 .|D .|0.000000 T|T 0.72977|0.72977 0.3528|0.3528 L|L 0.51422|0.51422 1.61|1.61 0.54753|0.54753 D|D 0.999985|0.999985 .|D;D;D;D .|0.89917 .|1.0;1.0;1.0;1.0 .|D;D;D;D .|0.97110 .|0.999;1.0;1.0;1.0 T|T 0.73665|0.73665 -0.3911|-0.3911 5|10 .|0.48119 .|T .|0.1 .|. 13.4876|13.4876 0.61375|0.61375 0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0 .|. .|108;232;295;264 .|Q59FX1;Q07912;Q07912-3;C9J1X3 .|.;ACK1_HUMAN;.;. A|C 157|232;295;264;232;232 .|ENSP00000329425:Y232C;ENSP00000371341:Y295C;ENSP00000392546:Y264C;ENSP00000376201:Y232C;ENSP00000323216:Y232C .|ENSP00000323216:Y232C T|Y -|- 1|2 0|0 TNK2|TNK2 197093511|197093511 1.000000|1.000000 0.71417|0.71417 0.993000|0.993000 0.49108|0.49108 0.989000|0.989000 0.77384|0.77384 4.763000|4.763000 0.62257|0.62257 2.112000|2.112000 0.64535|0.64535 0.533000|0.533000 0.62120|0.62120 ACG|TAC NOVEL TNK2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000341437.3 0 17.450355 KEEP 0 0 0 58 1769 TT 1 1 0 - 22 60 839 0 0 59.711293 295 60 10268 457 ENST00000333602.6 0.069401 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 195664923 195664923 __UNKNOWN__ IGR SNP A A G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:195664923A>G NA NA RNU2-11P (9277 upstream) : RP11-480A16.1 (11135 downstream) NA NA NA TTCTTCAGTTATGGTAGAAGA 0.443 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.195664923A>G NA hg19 0.02 9.812588 GTTxTGG COVERED NOVEL 0 1 4.482412 KEEP 12 2 69 39 1188 AA 1 1 0 15 60 570 0 0 40.51004 201 60 7166 324 0.069444 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 195665840 195665840 __UNKNOWN__ IGR SNP T T C rs113210197 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:195665840T>C NA NA RNU2-11P (10194 upstream) : RP11-480A16.1 (10218 downstream) NA NA NA ttctttctttttttGGTCTGG 0.328 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.195665840T>C NA hg19 0.02 17.79595 TTTxTTT COVERED NOVEL 0 5 20.598122 KEEP 0 1 36 81 2596 TT 1 1 0 11 60 426 0 0 25.618567 420 60 15297 666 0.025522 1 SDHAP1 255812 __UNKNOWN__ __UNKNOWN__ 3 195701388 195701388 __UNKNOWN__ RNA SNP G G A rs57251344|rs386670113 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:195701388G>A ENST00000427841.1 - 0 1436 NR_003264.2 succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1 NA NA NA CTCCCCACAGGCGTACAGGCC 0.582 NA -||| 1277 0.254992 0.149 0.2608 5008 , , NA 30979 0.4395 NA 0.2008 False NA ,,, NA NA NA 2504 0.2597 NA NA NA Ovarian(67;1158 1227 12109 20189 43170) NA 0 NA NA NA NA NA NA NA NA NA NA BC071730 3q29 2009-12-02 2006-11-21 2009-12-02 ENSG00000185485 ENSG00000185485 255812 32455 pseudogene pseudogene succinate dehydrogenase complex, subunit A, flavoprotein-like 1 SDHAL1, SDHALP1 NA Standard NR_003264 NA Approved uc003fvy.3 OTTHUMG00000155716 ENST00000427841.1: chr3.hg19:g.195701388G>A NA hg19 0.02 8.811681 CAGxCGT COVERED NOVEL SDHAP1-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000341367.1 1 21.068024 KEEP 0 0 0 70 2447 GG 1 1 0 - 12 60 445 0 0 29.54449 228 60 8406 368 ENST00000427841.1 0.05 1 SDHAP1 255812 __UNKNOWN__ __UNKNOWN__ 3 195701389 195701389 __UNKNOWN__ RNA SNP C C A rs386670113|rs60183692 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:195701389C>A ENST00000427841.1 - 0 1435 NR_003264.2 succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1 NA NA NA TCCCCACAGGCGTACAGGCCG 0.582 NA -||| 1277 0.254992 0.149 0.2608 5008 , , NA 30371 0.4395 NA 0.2008 False NA ,,, NA NA NA 2504 0.2597 NA NA NA Ovarian(67;1158 1227 12109 20189 43170) NA 0 NA NA NA NA NA NA NA NA NA NA BC071730 3q29 2009-12-02 2006-11-21 2009-12-02 ENSG00000185485 ENSG00000185485 255812 32455 pseudogene pseudogene succinate dehydrogenase complex, subunit A, flavoprotein-like 1 SDHAL1, SDHALP1 NA Standard NR_003264 NA Approved uc003fvy.3 OTTHUMG00000155716 ENST00000427841.1: chr3.hg19:g.195701389C>A NA hg19 0.02 9.410094 AGGxGTA COVERED NOVEL SDHAP1-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000341367.1 1 20.461944 KEEP 0 0 0 68 2205 CC 1 1 0 - 13 60 503 0 0 34.534298 228 60 7537 365 ENST00000427841.1 0.053942 1 SDHAP1 255812 __UNKNOWN__ __UNKNOWN__ 3 195703854 195703854 __UNKNOWN__ RNA SNP T T C rs79810558 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:195703854T>C ENST00000427841.1 - 0 1191 NR_003264.2 succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1 NA NA NA TGTGCACATGTGCCTGCACAC 0.532 NA -||| 1354 0.270367 0.121 0.33 5008 , , NA 20571 0.6905 NA 0.0795 False NA ,,, NA NA NA 2504 0.1933 NA NA NA Ovarian(67;1158 1227 12109 20189 43170) NA 0 NA NA NA NA NA NA NA NA NA NA BC071730 3q29 2009-12-02 2006-11-21 2009-12-02 ENSG00000185485 ENSG00000185485 255812 32455 pseudogene pseudogene succinate dehydrogenase complex, subunit A, flavoprotein-like 1 SDHAL1, SDHALP1 NA Standard NR_003264 NA Approved uc003fvy.3 OTTHUMG00000155716 ENST00000427841.1: chr3.hg19:g.195703854T>C NA hg19 0.02 7.382947 ATGxGCC COVERED NOVEL SDHAP1-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000341367.1 5 7.818907 KEEP 33 0 0 26 735 TT 0.999909 0.999909 0 - 16 27 624 0 0 46.588594 164 60 5717 247 ENST00000427841.1 0.088889 1 SDHAP1 255812 __UNKNOWN__ __UNKNOWN__ 3 195703880 195703880 __UNKNOWN__ RNA SNP T T C rs201661058 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:195703880T>C ENST00000427841.1 - 0 1191 NR_003264.2 succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1 NA NA NA TGAGGGCGAGTGGTGCTGAAA 0.567 NA NA NA NA NA NA NA NA NA NA Ovarian(67;1158 1227 12109 20189 43170) NA 0 NA NA NA NA NA NA NA NA NA NA BC071730 3q29 2009-12-02 2006-11-21 2009-12-02 ENSG00000185485 ENSG00000185485 255812 32455 pseudogene pseudogene succinate dehydrogenase complex, subunit A, flavoprotein-like 1 SDHAL1, SDHALP1 NA Standard NR_003264 NA Approved uc003fvy.3 OTTHUMG00000155716 ENST00000427841.1: chr3.hg19:g.195703880T>C NA hg19 0.02 11.50124 GAGxGGT COVERED NOVEL SDHAP1-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000341367.1 5 9.288128 KEEP 38 1 28 41 1098 TT 1 1 0 - 16 27 545 0 0 35.899745 251 60 8100 359 ENST00000427841.1 0.059925 1 SDHAP1 255812 __UNKNOWN__ __UNKNOWN__ 3 195706563 195706563 __UNKNOWN__ RNA SNP G G A rs4037311 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:195706563G>A ENST00000427841.1 - 0 1022 NR_003264.2 succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1 NA NA NA GGCACCACACGCTTACAAGAC 0.502 NA NA NA NA NA NA NA NA NA NA Ovarian(67;1158 1227 12109 20189 43170) NA 0 NA NA NA NA NA NA NA NA NA NA BC071730 3q29 2009-12-02 2006-11-21 2009-12-02 ENSG00000185485 ENSG00000185485 255812 32455 pseudogene pseudogene succinate dehydrogenase complex, subunit A, flavoprotein-like 1 SDHAL1, SDHALP1 NA Standard NR_003264 NA Approved uc003fvy.3 OTTHUMG00000155716 ENST00000427841.1: chr3.hg19:g.195706563G>A NA hg19 0.02 2.220782 CACxCTT UNCOVERED NOVEL SDHAP1-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000341367.1 1 3.877917 KEEP 28 0 0 13 422 GG 0 0 0 - 7 49 275 0 0 20.695907 69 50 2286 138 ENST00000427841.1 0.092105 0.998696 SDHAP1 255812 __UNKNOWN__ __UNKNOWN__ 3 195711016 195711016 __UNKNOWN__ RNA SNP G G A rs79282413 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:195711016G>A ENST00000427841.1 - 0 716 NR_003264.2 succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1 NA NA NA TTGAGTGGCCGGTCCGATCAG 0.592 NA NA NA NA NA NA NA NA NA NA Ovarian(67;1158 1227 12109 20189 43170) NA 0 NA NA NA NA NA NA NA NA NA NA BC071730 3q29 2009-12-02 2006-11-21 2009-12-02 ENSG00000185485 ENSG00000185485 255812 32455 pseudogene pseudogene succinate dehydrogenase complex, subunit A, flavoprotein-like 1 SDHAL1, SDHALP1 NA Standard NR_003264 NA Approved uc003fvy.3 OTTHUMG00000155716 ENST00000427841.1: chr3.hg19:g.195711016G>A NA hg19 0.02 7.168319 GCCxGTC COVERED NOVEL SDHAP1-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000341367.1 2 15.637816 KEEP 17 0 0 52 1783 GG 1 1 0 - 10 60 375 0 0 26.412777 137 60 4838 285 ENST00000427841.1 0.068027 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 195724379 195724379 __UNKNOWN__ IGR SNP T T C rs56321073 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:195724379T>C NA NA SDHAP1 (7229 upstream) : TFRC (51775 downstream) NA NA NA GTCGGAGAAATAGCCAGTCAA 0.448 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.195724379T>C NA hg19 0.02 2.285579 AAAxAGC COVERED NOVEL 0 0 3.007043 KEEP 4 0 0 10 288 TT 0.992708 0.991932 0 8 40 307 0 0 23.317514 70 60 2474 101 0.102564 0.999218 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 195724391 195724391 __UNKNOWN__ IGR SNP C C A rs574532 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:195724391C>A NA NA SDHAP1 (7241 upstream) : TFRC (51763 downstream) NA NA NA GCCAGTCAAGCGACTTGCAGC 0.458 NA c||| 257 0.0513179 0.0113 0.0447 5008 , , NA 19359 0.0198 NA 0.0596 False NA ,,, NA NA NA 2504 0.1339 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.195724391C>A NA hg19 0.02 1.86311 AAGxGAC COVERED NOVEL 0 0 2.708643 KEEP 8 0 0 9 318 CC 0.99254 0.992448 0 5 25 185 0 0 12.551771 83 60 3008 120 0.056818 0.999907 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 195724604 195724604 __UNKNOWN__ IGR SNP C C T rs147867736 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:195724604C>T NA NA SDHAP1 (7454 upstream) : TFRC (51550 downstream) NA NA NA CGTGAAAGAACTGTACATCAT 0.433 NA N||| 1143 0.228235 0.1278 0.2334 5008 , , NA 18957 0.6022 NA 0.0417 False NA ,,, NA NA NA 2504 0.1667 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.195724604C>T NA hg19 0.02 3.845067 GAAxTGT COVERED NOVEL 0 1 7.824892 KEEP 0 0 0 26 896 CC 0.999957 0.999957 0 10 40 343 0 0 23.801111 119 50 4559 165 0.077519 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 195725383 195725383 __UNKNOWN__ IGR SNP A A T rs73891191 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:195725383A>T NA NA SDHAP1 (8233 upstream) : TFRC (50771 downstream) NA NA NA GATTTTTTTTAAAAATTTAGG 0.274 NA N||| 1559 0.311302 0.1861 0.3559 5008 , , NA 13067 0.7331 NA 0.0835 False NA ,,, NA NA NA 2504 0.2485 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.195725383A>T NA hg19 0.02 6.043735 TTTxAAA COVERED NOVEL 0 4 12.936005 KEEP 0 0 0 43 1257 AA 1 1 0 13 60 449 0 0 31.455581 149 60 5343 239 0.080247 1 ZDHHC19 131540 __UNKNOWN__ __UNKNOWN__ 3 195925043 195925043 __UNKNOWN__ Intron SNP T T C rs2280531 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:195925043T>C ENST00000296326.3 - 7 1029 NM_001039617.1 NP_001034706.1 Q8WVZ1 ZDH19_HUMAN zinc finger, DHHC-type containing 19 NA NA endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270) breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3) 14 all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.0022) GCGCTCCAGCTTCAGGGTCAG 0.647 NA T||| 1244 0.248403 0.0295 0.281 5008 , , NA 15668 0.3948 NA 0.3151 False NA ,,, NA NA NA 2504 0.3016 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC022078 CCDS43190.1 3q29 2008-05-02 ENSG00000163958 ENSG00000163958 131540 Zinc fingers, DHHC-type 20713 protein-coding gene gene with protein product NA Standard NM_144637 XR_246038 NA Approved MGC33345 uc003fwc.3 Q8WVZ1 OTTHUMG00000133642 ENST00000296326.3:c.927+103A>G chr3.hg19:g.195925043T>C NA A8MSY6|B3KVI1 hg19 CCDS43190.1 0.02 -0.35093 AGCxTCA COVERED NOVEL ZDHHC19-007 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000341533.1 1 3.008979 KEEP 0 0 0 10 308 TT 0.992708 0.871307 0 - 3 60 105 0 0 7.305193 37 60 1368 53 ENST00000296326.3 0.075 0.877708 ZDHHC19 131540 __UNKNOWN__ __UNKNOWN__ 3 195937410 195937410 __UNKNOWN__ Intron SNP G G T rs6795707 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:195937410G>T ENST00000296326.3 - 2 348 ZDHHC19_ENST00000488508.1_Intron NM_001039617.1 NP_001034706.1 Q8WVZ1 ZDH19_HUMAN zinc finger, DHHC-type containing 19 NA NA endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270) breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3) 14 all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.0022) TCAGTAGGAAGAGCACTTTAG 0.547 NA G||| 832 0.166134 0.0136 0.1931 5008 , , NA 16496 0.3492 NA 0.1193 False NA ,,, NA NA NA 2504 0.2127 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC022078 CCDS43190.1 3q29 2008-05-02 ENSG00000163958 ENSG00000163958 131540 Zinc fingers, DHHC-type 20713 protein-coding gene gene with protein product NA Standard NM_144637 XR_246038 NA Approved MGC33345 uc003fwc.3 Q8WVZ1 OTTHUMG00000133642 ENST00000296326.3:c.268+76C>A chr3.hg19:g.195937410G>T NA A8MSY6|B3KVI1 hg19 CCDS43190.1 0.02 1.808501 GAAxAGC COVERED NOVEL ZDHHC19-007 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000341533.1 1 3.310757 KEEP 0 0 0 11 385 GG 0.993072 0.992878 0 - 5 60 171 0 0 11.133355 84 60 2972 115 ENST00000296326.3 0.05618 0.999804 ZDHHC19 131540 __UNKNOWN__ __UNKNOWN__ 3 195938177 195938177 __UNKNOWN__ Silent SNP A A G rs1522394 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:195938177A>G ENST00000296326.3 - 1 89 c.10T>C c.(10-12)Tta>Cta p.L4L ZDHHC19_ENST00000488508.1_5'UTR NM_001039617.1 NP_001034706.1 Q8WVZ1 ZDH19_HUMAN zinc finger, DHHC-type containing 19 4 NA endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270) breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3) 14 all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.0022) GCATCCGTTAAGAGTGTCATG 0.647 NA A||| 1350 0.269569 0.0537 0.3098 5008 , , NA 16359 0.5248 NA 0.2704 False NA ,,, NA NA NA 2504 0.2689 NA NA NA NA 0 A 357,3821 19,319,1751 96 121 113 10 -6.1 0 3 dbSNP_88 113 2005,6435 224,1557,2439 no coding-synonymous ZDHHC19 NM_001039617.1 243,1876,4190 GG,GA,AA 23.7559,8.5448,18.7193 4/310 195938177 2362,10256 2089 4220 6309 SO:0001819 synonymous_variant BC022078 CCDS43190.1 3q29 2008-05-02 ENSG00000163958 ENSG00000163958 131540 Zinc fingers, DHHC-type 20713 protein-coding gene gene with protein product NA Standard NM_144637 XR_246038 NA Approved MGC33345 uc003fwc.3 Q8WVZ1 OTTHUMG00000133642 ENST00000296326.3:c.10T>C chr3.hg19:g.195938177A>G NA A8MSY6|B3KVI1 hg19 CCDS43190.1 0.02 4.212021 TTAxGAG COVERED NOVEL ZDHHC19-007 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000341533.1 1 12.93854 KEEP 0 0 0 43 1326 AA 1 1 0 - 5 60 184 0 0 11.359721 139 60 5142 214 ENST00000296326.3 0.034722 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 195941216 195941216 __UNKNOWN__ IGR SNP C C G rs7642243 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:195941216C>G NA NA ZDHHC19 (2950 upstream) : SLC51A (2158 downstream) NA NA NA ttccggcttcctgcacacaaa 0.537 NA G||| 3481 0.695088 0.6263 0.6254 5008 , , NA 19151 0.9097 NA 0.5696 False NA ,,, NA NA NA 2504 0.7454 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.195941216C>G NA hg19 0.02 16.580749 TTCxTGC COVERED 1468 0.6721611721611722 300 0.6097560975609756 210 0.580110497237569 534 0.9335664335664335 424 0.5593667546174143 G 4.087 0.014066 0.07959 . . ENSG00000161217 ENST00000441879 . . . 0.158 0.158 0.14942 . . . . . T 0.00012 0.0000 . . . 0.80722 P 0.0 . . . . . . T 0.20638 -1.0269 3 0.87932 D 0 . . . . rs7642243;rs58775153;rs7642243 . . . T 172 . ENSP00000392397:R172T R - 2 0 PCYT1A 197425613 0.001000 0.12720 0.003000 0.11579 0.003000 0.03518 -0.845000 0.04340 -0.990000 0.03481 -0.980000 0.02579 AGG NOVEL 0 1 26.218503 KEEP 0 1 31 98 3432 CC 1 1 0 46 60 1532 0 0 111.362344 390 60 14597 639 0.105505 1 SLC51A 200931 __UNKNOWN__ __UNKNOWN__ 3 195953775 195953775 __UNKNOWN__ Intron SNP C C T rs68119320 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:195953775C>T ENST00000296327.5 + 3 342 NM_152672.5 NP_689885.4 Q86UW1 OSTA_HUMAN solute carrier family 51, alpha subunit NA NA bile acid and bile salt transport (GO:0015721)|transport (GO:0006810) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234) protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215) NA Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917) ATCCGAGGAACAAGCCCAGGC 0.532 NA T||| 2318 0.462859 0.1891 0.428 5008 , , NA 16304 0.8552 NA 0.3628 False NA ,,, NA NA NA 2504 0.5562 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS3314.1 3q29 2013-05-22 ENSG00000163959 ENSG00000163959 200931 Solute carriers 29955 protein-coding gene gene with protein product organic solute transporter, alpha subunit 612084 NA 12719432, 20538072 Standard NM_152672 NM_152672 NA Approved OSTalpha uc003fwd.3 Q86UW1 OTTHUMG00000155684 ENST00000296327.5:c.134-61C>T chr3.hg19:g.195953775C>T NA Q6ZMC7 hg19 CCDS3314.1 0.02 -0.403525 GAAxAAG COVERED NOVEL SLC51A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000341253.1 1 3.591271 KEEP 0 0 0 12 385 CC 0.993634 0.928543 0 + 3 60 112 0 0 7.816624 43 60 1568 59 ENST00000296327.5 0.065217 0.934492 SLC51A 200931 __UNKNOWN__ __UNKNOWN__ 3 195955178 195955178 __UNKNOWN__ Intron SNP C C T rs72611184 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:195955178C>T ENST00000296327.5 + 5 730 NM_152672.5 NP_689885.4 Q86UW1 OSTA_HUMAN solute carrier family 51, alpha subunit NA NA bile acid and bile salt transport (GO:0015721)|transport (GO:0006810) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234) protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215) NA Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917) CCCCAGGAGCCGGGGAGCCTC 0.667 NA C||| 1563 0.312101 0.0295 0.3401 5008 , , NA 16643 0.7312 NA 0.2316 False NA ,,, NA NA NA 2504 0.3252 NA NA NA NA 0 C 275,4123 13,249,1937 17 19 18 -7.1 0 3 dbSNP_130 18 2001,6593 271,1459,2567 no intron OSTalpha NM_152672.5 284,1708,4504 TT,TC,CC 23.2837,6.2528,17.5185 195955178 2276,10716 2199 4297 6496 SO:0001627 intron_variant CCDS3314.1 3q29 2013-05-22 ENSG00000163959 ENSG00000163959 200931 Solute carriers 29955 protein-coding gene gene with protein product organic solute transporter, alpha subunit 612084 NA 12719432, 20538072 Standard NM_152672 NM_152672 NA Approved OSTalpha uc003fwd.3 Q86UW1 OTTHUMG00000155684 ENST00000296327.5:c.521+34C>T chr3.hg19:g.195955178C>T NA Q6ZMC7 hg19 CCDS3314.1 0.02 2.540129 AGCxGGG COVERED NOVEL SLC51A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000341253.1 0 3.607602 KEEP 0 0 0 12 346 CC 0.993634 0.957638 0 + 11 60 408 0 0 34.503536 40 60 1244 67 ENST00000296327.5 0.215686 0.963774 SLC51A 200931 __UNKNOWN__ __UNKNOWN__ 3 195955209 195955209 __UNKNOWN__ Intron SNP T T C rs72611185 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:195955209T>C ENST00000296327.5 + 5 730 NM_152672.5 NP_689885.4 Q86UW1 OSTA_HUMAN solute carrier family 51, alpha subunit NA NA bile acid and bile salt transport (GO:0015721)|transport (GO:0006810) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234) protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215) NA Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917) CTGGTCCCCTTCAAGGCTCTG 0.687 NA T||| 1965 0.392372 0.2254 0.402 5008 , , NA 17171 0.7312 NA 0.3161 False NA ,,, NA NA NA 2504 0.3405 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS3314.1 3q29 2013-05-22 ENSG00000163959 ENSG00000163959 200931 Solute carriers 29955 protein-coding gene gene with protein product organic solute transporter, alpha subunit 612084 NA 12719432, 20538072 Standard NM_152672 NM_152672 NA Approved OSTalpha uc003fwd.3 Q86UW1 OTTHUMG00000155684 ENST00000296327.5:c.521+65T>C chr3.hg19:g.195955209T>C NA Q6ZMC7 hg19 CCDS3314.1 0.02 -0.263191 CCTxCAA COVERED NOVEL SLC51A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000341253.1 0 2.708526 KEEP 0 0 0 9 297 TT 0.99254 0.688494 0 + 5 60 178 0 0 14.315964 25 60 890 41 ENST00000296327.5 0.166667 0.693668 SLC51A 200931 __UNKNOWN__ __UNKNOWN__ 3 195956675 195956675 __UNKNOWN__ Intron SNP C C G rs60276076 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:195956675C>G ENST00000296327.5 + 7 842 NM_152672.5 NP_689885.4 Q86UW1 OSTA_HUMAN solute carrier family 51, alpha subunit NA NA bile acid and bile salt transport (GO:0015721)|transport (GO:0006810) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234) protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215) NA Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917) agtgagctatcattgcacctc 0.537 NA G||| 1970 0.393371 0.2322 0.4006 5008 , , NA 17383 0.7312 NA 0.3171 False NA ,,, NA NA NA 2504 0.3364 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS3314.1 3q29 2013-05-22 ENSG00000163959 ENSG00000163959 200931 Solute carriers 29955 protein-coding gene gene with protein product organic solute transporter, alpha subunit 612084 NA 12719432, 20538072 Standard NM_152672 NM_152672 NA Approved OSTalpha uc003fwd.3 Q86UW1 OTTHUMG00000155684 ENST00000296327.5:c.634-111C>G chr3.hg19:g.195956675C>G NA Q6ZMC7 hg19 CCDS3314.1 0.02 9.926326 TATxATT COVERED NOVEL SLC51A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000341253.1 0 10.00275 KEEP 0 2 71 58 1958 CC 1 1 0 + 24 60 889 0 0 66.453726 217 60 8110 338 ENST00000296327.5 0.099585 1 SLC51A 200931 __UNKNOWN__ __UNKNOWN__ 3 195956827 195956827 __UNKNOWN__ Silent SNP T T C rs17852687 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:195956827T>C ENST00000296327.5 + 7 884 c.675T>C c.(673-675)ctT>ctC p.L225L PCYT1A_ENST00000419333.1_3'UTR NM_152672.5 NP_689885.4 Q86UW1 OSTA_HUMAN solute carrier family 51, alpha subunit 225 NA bile acid and bile salt transport (GO:0015721)|transport (GO:0006810) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234) protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215) NA Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917) ACACTTTCCTTGGCGTGTCCA 0.537 NA C||| 2492 0.497604 0.3222 0.4914 5008 , , NA 17557 0.7897 NA 0.4394 False NA ,,, NA NA NA 2504 0.498 NA NA NA NA 0 C 1527,2879 674.0+/-402.9 244,1039,920 120 106 111 675 -11.7 0 3 dbSNP_123 111 3818,4782 612.9+/-396.0 870,2078,1352 no coding-synonymous OSTalpha NM_152672.5 1114,3117,2272 CC,CT,TT 44.3953,34.6573,41.0964 225/341 195956827 5345,7661 2203 4300 6503 SO:0001819 synonymous_variant CCDS3314.1 3q29 2013-05-22 ENSG00000163959 ENSG00000163959 200931 Solute carriers 29955 protein-coding gene gene with protein product organic solute transporter, alpha subunit 612084 NA 12719432, 20538072 Standard NM_152672 NM_152672 NA Approved OSTalpha uc003fwd.3 Q86UW1 OTTHUMG00000155684 ENST00000296327.5:c.675T>C chr3.hg19:g.195956827T>C NA Q6ZMC7 hg19 CCDS3314.1 0.02 23.884546 CCTxGGC COVERED NOVEL SLC51A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000341253.1 2 35.374089 KEEP 0 2 58 138 4329 TT 1 1 0 + 47 60 1620 0 0 116.298262 465 70 17072 808 ENST00000296327.5 0.091797 1 SLC51A 200931 __UNKNOWN__ __UNKNOWN__ 3 195956970 195956970 __UNKNOWN__ Intron SNP C C T rs67261052 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:195956970C>T ENST00000296327.5 + 7 989 PCYT1A_ENST00000419333.1_Intron NM_152672.5 NP_689885.4 Q86UW1 OSTA_HUMAN solute carrier family 51, alpha subunit NA NA bile acid and bile salt transport (GO:0015721)|transport (GO:0006810) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234) protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215) NA Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917) GTTTCATAACCGAGCTACAGA 0.468 NA C||| 1966 0.392572 0.2315 0.3991 5008 , , NA 21427 0.7321 NA 0.3161 False NA ,,, NA NA NA 2504 0.3344 NA NA NA NA 0 C 1098,3308 376.8+/-322.2 123,852,1228 25 23 23 -1.8 0 3 dbSNP_130 23 2631,5969 395.0+/-344.9 397,1837,2066 no intron OSTalpha NM_152672.5 520,2689,3294 TT,TC,CC 30.593,24.9206,28.6714 195956970 3729,9277 2203 4300 6503 SO:0001627 intron_variant CCDS3314.1 3q29 2013-05-22 ENSG00000163959 ENSG00000163959 200931 Solute carriers 29955 protein-coding gene gene with protein product organic solute transporter, alpha subunit 612084 NA 12719432, 20538072 Standard NM_152672 NM_152672 NA Approved OSTalpha uc003fwd.3 Q86UW1 OTTHUMG00000155684 ENST00000296327.5:c.780+38C>T chr3.hg19:g.195956970C>T NA Q6ZMC7 hg19 CCDS3314.1 0.02 6.836494 AACxGAG COVERED NOVEL SLC51A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000341253.1 0 6.654386 KEEP 0 1 31 33 1095 CC 0.999998 0.999998 0 + 16 60 605 0 0 44.936623 158 60 5298 241 ENST00000296327.5 0.091954 1 SLC51A 200931 __UNKNOWN__ __UNKNOWN__ 3 195959924 195959924 __UNKNOWN__ Intron SNP T T C rs1476331 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:195959924T>C ENST00000296327.5 + 9 1095 PCYT1A_ENST00000419333.1_Intron NM_152672.5 NP_689885.4 Q86UW1 OSTA_HUMAN solute carrier family 51, alpha subunit NA NA bile acid and bile salt transport (GO:0015721)|transport (GO:0006810) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234) protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215) NA Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917) TATTTCACCCTACACTGCAGT 0.473 NA C||| 2874 0.573882 0.4909 0.5101 5008 , , NA 22237 0.8681 NA 0.4423 False NA ,,, NA NA NA 2504 0.5634 NA NA NA NA 0 C 2166,2240 594.1+/-388.1 507,1152,544 158 143 148 0.2 0 3 dbSNP_88 148 3828,4772 611.6+/-395.8 877,2074,1349 no intron OSTalpha NM_152672.5 1384,3226,1893 CC,CT,TT 44.5116,49.1602,46.0864 195959924 5994,7012 2203 4300 6503 SO:0001627 intron_variant CCDS3314.1 3q29 2013-05-22 ENSG00000163959 ENSG00000163959 200931 Solute carriers 29955 protein-coding gene gene with protein product organic solute transporter, alpha subunit 612084 NA 12719432, 20538072 Standard NM_152672 NM_152672 NA Approved OSTalpha uc003fwd.3 Q86UW1 OTTHUMG00000155684 ENST00000296327.5:c.887-10T>C chr3.hg19:g.195959924T>C NA Q6ZMC7 hg19 CCDS3314.1 0.02 8.818785 CCCxACA COVERED NOVEL SLC51A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000341253.1 0 10.830244 KEEP 0 0 0 36 1080 TT 0.999999 0.999999 0 + 10 60 340 0 0 21.399262 198 60 7196 256 ENST00000296327.5 0.048077 1 SLC51A 200931 __UNKNOWN__ __UNKNOWN__ 3 195960225 195960225 __UNKNOWN__ 3'UTR SNP A A G rs9343 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:195960225A>G ENST00000296327.5 + 0 1387 PCYT1A_ENST00000419333.1_Intron NM_152672.5 NP_689885.4 Q86UW1 OSTA_HUMAN solute carrier family 51, alpha subunit NA NA bile acid and bile salt transport (GO:0015721)|transport (GO:0006810) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234) protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215) NA Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917) ACAATGTTAGAATAAAATTGC 0.408 NA G||| 2935 0.586062 0.4992 0.5216 5008 , , NA 23893 0.8681 NA 0.4732 False NA ,,, NA NA NA 2504 0.5746 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS3314.1 3q29 2013-05-22 ENSG00000163959 ENSG00000163959 200931 Solute carriers 29955 protein-coding gene gene with protein product organic solute transporter, alpha subunit 612084 NA 12719432, 20538072 Standard NM_152672 NM_152672 NA Approved OSTalpha uc003fwd.3 Q86UW1 OTTHUMG00000155684 ENST00000296327.5:c.*155A>G chr3.hg19:g.195960225A>G NA Q6ZMC7 hg19 CCDS3314.1 0.02 19.89532 TAGxATA COVERED NOVEL SLC51A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000341253.1 4 23.767647 KEEP 0 0 0 79 2463 AA 1 1 0 + 36 60 1350 0 0 97.890841 409 60 14598 602 ENST00000296327.5 0.080899 1 PCYT1A 5130 __UNKNOWN__ __UNKNOWN__ 3 195962244 195962244 __UNKNOWN__ 3'UTR SNP G G T rs870339 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:195962244G>T ENST00000292823.2 - 0 4591 SLC51A_ENST00000479732.1_Intron|PCYT1A_ENST00000419333.1_Intron NM_005017.2 NP_005008.2 P49585 PCY1A_HUMAN phosphate cytidylyltransferase 1, choline, alpha NA NA CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281) endoplasmic reticulum membrane (GO:0005789)|glycogen granule (GO:0042587) choline-phosphate cytidylyltransferase activity (GO:0004105)|lipid binding (GO:0008289) cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1) 18 all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00259) Choline(DB00122)|Lamivudine(DB00709) TCAGAAAGTGGCTAAGTTTCC 0.463 NA T||| 2317 0.46266 0.3775 0.4251 5008 , , NA 19049 0.7986 NA 0.338 False NA ,,, NA NA NA 2504 0.3865 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L28957 CCDS3315.1 3q29 2010-07-19 2005-09-05 ENSG00000161217 ENSG00000161217 5130 2.7.7.15 8754 protein-coding gene gene with protein product phosphate cytidylyltransferase 1, choline, alpha isoform 123695 phosphate cytidylyltransferase 1, choline, alpha isoform PCYT1 NA 7918629 Standard NM_005017 NM_005017 NA Approved CT, CTPCT uc003fwg.3 P49585 OTTHUMG00000155670 ENST00000292823.2:c.*3315C>A chr3.hg19:g.195962244G>T NA A9LYK9|D3DXB1|Q86Y88 hg19 CCDS3315.1 0.02 10.865851 GTGxCTA COVERED NOVEL PCYT1A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000341147.1 2 8.798151 KEEP 0 2 53 48 1676 GG 1 1 0 - 21 60 750 0 0 52.96148 250 60 8906 361 ENST00000292823.2 0.077491 1 PCYT1A 5130 __UNKNOWN__ __UNKNOWN__ 3 195963910 195963910 __UNKNOWN__ 3'UTR SNP C C T rs2342309 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:195963910C>T ENST00000292823.2 - 0 2925 SLC51A_ENST00000479732.1_Intron|PCYT1A_ENST00000419333.1_Intron NM_005017.2 NP_005008.2 P49585 PCY1A_HUMAN phosphate cytidylyltransferase 1, choline, alpha NA NA CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281) endoplasmic reticulum membrane (GO:0005789)|glycogen granule (GO:0042587) choline-phosphate cytidylyltransferase activity (GO:0004105)|lipid binding (GO:0008289) cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1) 18 all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00259) Choline(DB00122)|Lamivudine(DB00709) GACCCTCAGGCGGAAAACTAG 0.498 NA C||| 1549 0.309305 0.0197 0.3415 5008 , , NA 22218 0.7282 NA 0.2535 False NA ,,, NA NA NA 2504 0.3037 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L28957 CCDS3315.1 3q29 2010-07-19 2005-09-05 ENSG00000161217 ENSG00000161217 5130 2.7.7.15 8754 protein-coding gene gene with protein product phosphate cytidylyltransferase 1, choline, alpha isoform 123695 phosphate cytidylyltransferase 1, choline, alpha isoform PCYT1 NA 7918629 Standard NM_005017 NM_005017 NA Approved CT, CTPCT uc003fwg.3 P49585 OTTHUMG00000155670 ENST00000292823.2:c.*1649G>A chr3.hg19:g.195963910C>T NA A9LYK9|D3DXB1|Q86Y88 hg19 CCDS3315.1 0.02 6.272646 AGGxGGA COVERED NOVEL PCYT1A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000341147.1 1 8.562568 KEEP 0 1 33 40 1385 CC 1 1 0 - 12 60 421 0 0 28.995956 158 60 5641 270 ENST00000292823.2 0.070588 1 PCYT1A 5130 __UNKNOWN__ __UNKNOWN__ 3 195968643 195968643 __UNKNOWN__ Intron SNP G G A rs1045075 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:195968643G>A ENST00000292823.2 - 8 881 PCYT1A_ENST00000431016.1_Intron|PCYT1A_ENST00000419333.1_Intron NM_005017.2 NP_005008.2 P49585 PCY1A_HUMAN phosphate cytidylyltransferase 1, choline, alpha NA NA CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281) endoplasmic reticulum membrane (GO:0005789)|glycogen granule (GO:0042587) choline-phosphate cytidylyltransferase activity (GO:0004105)|lipid binding (GO:0008289) cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1) 18 all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00259) Choline(DB00122)|Lamivudine(DB00709) agaccgtaacggcagaaactg 0.363 NA G||| 1983 0.395966 0.1044 0.4452 5008 , , NA 23198 0.6935 NA 0.4046 False NA ,,, NA NA NA 2504 0.4397 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L28957 CCDS3315.1 3q29 2010-07-19 2005-09-05 ENSG00000161217 ENSG00000161217 5130 2.7.7.15 8754 protein-coding gene gene with protein product phosphate cytidylyltransferase 1, choline, alpha isoform 123695 phosphate cytidylyltransferase 1, choline, alpha isoform PCYT1 NA 7918629 Standard NM_005017 NM_005017 NA Approved CT, CTPCT uc003fwg.3 P49585 OTTHUMG00000155670 ENST00000292823.2:c.708+175C>T chr3.hg19:g.195968643G>A NA A9LYK9|D3DXB1|Q86Y88 hg19 CCDS3315.1 0.02 38.579255 AACxGCA COVERED NOVEL PCYT1A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000341147.1 4 19.673269 KEEP 0 6 199 135 4613 GG 1 1 0 - 59 60 2171 0 0 153.873518 741 60 25739 1166 ENST00000292823.2 0.07375 1 PCYT1A 5130 __UNKNOWN__ __UNKNOWN__ 3 195975284 195975284 __UNKNOWN__ Intron SNP C C G rs3772107 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:195975284C>G ENST00000292823.2 - 5 390 PCYT1A_ENST00000431016.1_Intron|PCYT1A_ENST00000491544.1_Intron|RP11-447L10.1_ENST00000431391.1_Intron|PCYT1A_ENST00000419333.1_Intron NM_005017.2 NP_005008.2 P49585 PCY1A_HUMAN phosphate cytidylyltransferase 1, choline, alpha NA NA CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281) endoplasmic reticulum membrane (GO:0005789)|glycogen granule (GO:0042587) choline-phosphate cytidylyltransferase activity (GO:0004105)|lipid binding (GO:0008289) cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1) 18 all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00259) Choline(DB00122)|Lamivudine(DB00709) actctgtcacccaggctggag 0.463 NA c||| 1562 0.311901 0.0136 0.3588 5008 , , NA 18908 0.7232 NA 0.2763 False NA ,,, NA NA NA 2504 0.2945 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L28957 CCDS3315.1 3q29 2010-07-19 2005-09-05 ENSG00000161217 ENSG00000161217 5130 2.7.7.15 8754 protein-coding gene gene with protein product phosphate cytidylyltransferase 1, choline, alpha isoform 123695 phosphate cytidylyltransferase 1, choline, alpha isoform PCYT1 NA 7918629 Standard NM_005017 NM_005017 NA Approved CT, CTPCT uc003fwg.3 P49585 OTTHUMG00000155670 ENST00000292823.2:c.218-90G>C chr3.hg19:g.195975284C>G NA A9LYK9|D3DXB1|Q86Y88 hg19 CCDS3315.1 0.02 -0.200782 CACxCAG COVERED NOVEL PCYT1A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000341147.1 0 2.407776 KEEP 0 0 0 8 286 CC 0.99257 0.4869 0 - 3 60 117 0 0 9.271249 20 60 667 35 ENST00000292823.2 0.130435 0.490544 RP11-447L10.1 0 __UNKNOWN__ __UNKNOWN__ 3 196022750 196022750 __UNKNOWN__ Intron SNP T T C rs2293160 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:196022750T>C ENST00000431391.1 - 3 387 TCTEX1D2_ENST00000325318.5_Intron NA NA NA AGTAAAATCATTTCATTCACA 0.358 NA T||| 2138 0.426917 0.1846 0.4078 5008 , , NA 18032 0.7996 NA 0.3111 False NA ,,, NA NA NA 2504 0.5031 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000431391.1:c.317+11063A>G chr3.hg19:g.196022750T>C NA hg19 0.02 2.120891 TCAxTTC COVERED NOVEL RP11-447L10.1-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000341168.1 0 2.697603 KEEP 0 0 0 9 238 TT 0.99254 0.991245 0 - 10 60 369 0 0 28.882953 65 60 2369 84 ENST00000431391.1 0.133333 0.998696 TM4SF19 116211 __UNKNOWN__ __UNKNOWN__ 3 196044894 196044894 __UNKNOWN__ Intron SNP G G C rs2270769|rs201282962 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:196044894G>C ENST00000442633.1 - 6 814 TCTEX1D2_ENST00000325318.5_Intron|RP11-447L10.1_ENST00000431391.1_Intron Q96DZ7 T4S19_HUMAN transmembrane 4 L six family member 19 NA NA integral component of membrane (GO:0016021) endometrium(2)|kidney(2)|large_intestine(3)|lung(5) 12 all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00314) CCCCGCCACAGCCCGTCCTCT 0.721 NA C||| 2035 0.40635 0.1407 0.3963 5008 , , NA 9468 0.7946 NA 0.3082 False NA ,,, NA NA NA 2504 0.4734 NA NA NA NA 0 C 742,3662 74,594,1534 28 27 27 -9.5 0 3 dbSNP_100 27 2599,5993 410,1779,2107 no intron TCTEX1D2 NM_152773.4 484,2373,3641 CC,CG,GG 30.2491,16.8483,25.7079 196044894 3341,9655 2202 4296 6498 SO:0001627 intron_variant BC013113 CCDS3316.1, CCDS56299.1 3q29 2005-08-09 ENSG00000145107 ENSG00000145107 116211 25167 protein-coding gene gene with protein product NA 12477932 Standard NM_138461 NM_138461 NA Approved uc021xjs.1 Q96DZ7 OTTHUMG00000155675 ENST00000442633.1:c.628-1792C>G chr3.hg19:g.196044894G>C NA B2RV20|E9PH22|Q336K7 hg19 CCDS3316.1 0.02 4.293429 ACAxCCC COVERED NOVEL TM4SF19-001 KNOWN basic|appris_principal|readthrough_transcript|CCDS nonsense_mediated_decay NA protein_coding OTTHUMT00000473197.1 1 17.790627 KEEP 0 3 108 97 3317 GG 1 0.999995 0 - 8 60 281 0 0 19.539301 100 60 3482 310 ENST00000442633.1 0.074074 0.999995 TM4SF19 116211 __UNKNOWN__ __UNKNOWN__ 3 196046300 196046300 __UNKNOWN__ 3'UTR SNP C C T rs55996879 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:196046300C>T ENST00000446879.1 - 0 1494 TM4SF19-AS1_ENST00000420226.1_RNA|TM4SF19-AS1_ENST00000452051.1_RNA|TM4SF19-AS1_ENST00000444939.1_RNA|TM4SF19_ENST00000442633.1_Intron Q96DZ7 T4S19_HUMAN transmembrane 4 L six family member 19 NA NA integral component of membrane (GO:0016021) endometrium(2)|kidney(2)|large_intestine(3)|lung(5) 12 all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00314) aatgccaccgcgcgtggctaa 0.527 NA C||| 1796 0.358626 0.0893 0.3646 5008 , , NA 19133 0.7877 NA 0.2535 False NA ,,, NA NA NA 2504 0.3845 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC013113 CCDS3316.1, CCDS56299.1 3q29 2005-08-09 ENSG00000145107 ENSG00000145107 116211 25167 protein-coding gene gene with protein product NA 12477932 Standard NM_138461 NM_138461 NA Approved uc021xjs.1 Q96DZ7 OTTHUMG00000155675 ENST00000446879.1:c.*469G>A chr3.hg19:g.196046300C>T NA B2RV20|E9PH22|Q336K7 hg19 0.02 4.410634 CCGxGCG COVERED NOVEL TM4SF19-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000341175.1 10 11.568649 KEEP 0 2 64 61 2041 CC 1 0.999994 0 - 6 60 214 0 0 14.154848 104 60 3693 215 ENST00000446879.1 0.054545 0.999994 TM4SF19 116211 __UNKNOWN__ __UNKNOWN__ 3 196054439 196054439 __UNKNOWN__ Missense_Mutation SNP T T G rs6785339 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:196054439T>G ENST00000446879.1 - 2 148 c.23A>C c.(22-24)cAg>cCg p.Q8P TM4SF19_ENST00000454715.1_Missense_Mutation_p.Q8P|TM4SF19_ENST00000273695.3_Missense_Mutation_p.Q8P|TM4SF19_ENST00000442633.1_Missense_Mutation_p.Q8P Q96DZ7 T4S19_HUMAN transmembrane 4 L six family member 19 8 NA Q -> P (in dbSNP:rs6785339). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.1}. integral component of membrane (GO:0016021) endometrium(2)|kidney(2)|large_intestine(3)|lung(5) 12 all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00314) TGAGCTTGCCTGCGTGCAGGG 0.602 NA G||| 3159 0.630791 0.4402 0.6009 5008 , , NA 20050 0.871 NA 0.5726 False NA ,,, NA NA NA 2504 0.7219 NA NA NA NA 0 G PRO/GLN,PRO/GLN,PRO/GLN 2112,2294 599.9+/-389.4 524,1064,615 75 64 68 23,23,23 3.1 0 3 dbSNP_116 68 4958,3642 522.3+/-380.1 1419,2120,761 yes missense,missense,missense TM4SF19 NM_001204897.1,NM_001204898.1,NM_138461.3 76,76,76 1943,3184,1376 GG,GT,TT 42.3488,47.9346,45.6405 benign,benign,benign 8/243,8/184,8/210 196054439 7070,5936 2203 4300 6503 SO:0001583 missense BC013113 CCDS3316.1, CCDS56299.1 3q29 2005-08-09 ENSG00000145107 ENSG00000145107 116211 25167 protein-coding gene gene with protein product NA 12477932 Standard NM_138461 NM_138461 NA Approved uc021xjs.1 Q96DZ7 OTTHUMG00000155675 ENST00000446879.1:c.23A>C chr3.hg19:g.196054439T>G ENSP00000395280:p.Gln8Pro NA B2RV20|E9PH22|Q336K7 hg19 0.02 6.845572 GCCxGCG COVERED 1407 0.6442307692307693 237 0.4817073170731707 222 0.6132596685082873 504 0.8811188811188811 444 0.5857519788918206 G 10.19 1.282160 0.23392 0.479346 0.576512 ENSG00000145107 ENST00000446879;ENST00000454715;ENST00000273695 T;T;T 0.30714 1.88;1.52;1.53 5.58 3.1 0.35709 . 0.984540 0.08285 N 0.969300 T 0.00012 0.0000 N 0.08118 0 0.80722 P 0.0 B;B;B 0.02656 0.0;0.0;0.0 B;B;B 0.01281 0.0;0.0;0.0 T 0.23226 -1.0194 9 0.41790 T 0.15 0.2119 3.4069 0.07344 0.654:0.0:0.179:0.167 rs6785339;rs17856417;rs52827973;rs60135622;rs6785339 8;8;8 E9PH22;C9JCD5;Q96DZ7 .;.;T4S19_HUMAN P 8 ENSP00000395280:Q8P;ENSP00000387728:Q8P;ENSP00000273695:Q8P ENSP00000273695:Q8P Q - 2 0 TM4SF19 197538836 0.029000 0.19370 0.005000 0.12908 0.001000 0.01503 0.670000 0.25157 0.407000 0.25591 -1.094000 0.02160 CAG NOVEL TM4SF19-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000341175.1 0 4.849978 KEEP 0 1 37 29 903 TT 0.999997 0.999997 0 - 10 60 343 0 0 22.492345 163 60 6025 243 ENST00000446879.1 0.057803 1 UBXN7 26043 __UNKNOWN__ __UNKNOWN__ 3 196076503 196076503 __UNKNOWN__ 3'UTR SNP T T C rs4371545 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:196076503T>C ENST00000296328.4 - 0 8597 NM_015562.1 NP_056377.1 O94888 UBXN7_HUMAN UBX domain protein 7 NA NA Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|nucleus (GO:0005634) transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625) NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 18 GCTACCTAGATAGAGAGAAAA 0.433 NA T||| 3029 0.604832 0.4637 0.562 5008 , , NA 17528 0.8988 NA 0.5298 False NA ,,, NA NA NA 2504 0.6002 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB018337 CCDS43191.1 3q29 2012-07-06 2008-07-25 2008-07-25 ENSG00000163960 ENSG00000163960 26043 UBX domain containing 29119 protein-coding gene gene with protein product UBX domain containing 7 UBXD7 NA 9872452, 22537386 Standard XM_087353 NM_015562 NA Approved KIAA0794 uc003fwm.4 O94888 OTTHUMG00000155639 ENST00000296328.4:c.*7053A>G chr3.hg19:g.196076503T>C NA D3DXB3|Q6ZP77|Q86X20|Q8N327 hg19 CCDS43191.1 0.02 7.44233 AGAxAGA COVERED NOVEL UBXN7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000340938.2 2 13.540129 KEEP 0 0 0 45 1388 TT 1 1 0 - 21 60 806 0 0 61.639098 175 60 6395 290 ENST00000296328.4 0.107143 1 UBXN7 26043 __UNKNOWN__ __UNKNOWN__ 3 196076739 196076739 __UNKNOWN__ 3'UTR SNP A A T rs4513483 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:196076739A>T ENST00000296328.4 - 0 8361 NM_015562.1 NP_056377.1 O94888 UBXN7_HUMAN UBX domain protein 7 NA NA Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|nucleus (GO:0005634) transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625) NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 18 TTTGATGAGAAAAAATATTAC 0.308 NA T||| 3042 0.607428 0.472 0.5648 5008 , , NA 17900 0.8988 NA 0.5298 False NA ,,, NA NA NA 2504 0.6002 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB018337 CCDS43191.1 3q29 2012-07-06 2008-07-25 2008-07-25 ENSG00000163960 ENSG00000163960 26043 UBX domain containing 29119 protein-coding gene gene with protein product UBX domain containing 7 UBXD7 NA 9872452, 22537386 Standard XM_087353 NM_015562 NA Approved KIAA0794 uc003fwm.4 O94888 OTTHUMG00000155639 ENST00000296328.4:c.*6817T>A chr3.hg19:g.196076739A>T NA D3DXB3|Q6ZP77|Q86X20|Q8N327 hg19 CCDS43191.1 0.02 6.759414 AGAxAAA COVERED NOVEL UBXN7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000340938.2 1 2.240041 KEEP 0 1 30 18 579 AA 0.99986 0.99986 0 - 15 60 554 0 0 40.941148 145 60 5250 218 ENST00000296328.4 0.09375 1 UBXN7 26043 __UNKNOWN__ __UNKNOWN__ 3 196077533 196077533 __UNKNOWN__ 3'UTR SNP T T C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:196077533T>C ENST00000296328.4 - 0 7567 NM_015562.1 NP_056377.1 O94888 UBXN7_HUMAN UBX domain protein 7 NA NA Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|nucleus (GO:0005634) transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625) NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 18 AAGAAATTCTTGATTCTATAC 0.358 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB018337 CCDS43191.1 3q29 2012-07-06 2008-07-25 2008-07-25 ENSG00000163960 ENSG00000163960 26043 UBX domain containing 29119 protein-coding gene gene with protein product UBX domain containing 7 UBXD7 NA 9872452, 22537386 Standard XM_087353 NM_015562 NA Approved KIAA0794 uc003fwm.4 O94888 OTTHUMG00000155639 ENST00000296328.4:c.*6023A>G chr3.hg19:g.196077533T>C NA D3DXB3|Q6ZP77|Q86X20|Q8N327 hg19 CCDS43191.1 0.02 10.373148 TCTxGAT COVERED NOVEL UBXN7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000340938.2 2 13.839515 KEEP 0 0 0 46 1418 TT 1 1 0 - 16 60 512 0 0 32.667011 254 60 9332 358 ENST00000296328.4 0.059259 1 UBXN7 26043 __UNKNOWN__ __UNKNOWN__ 3 196078149 196078149 __UNKNOWN__ 3'UTR SNP C C A rs201075296|rs6772164 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:196078149C>A ENST00000296328.4 - 0 6951 NM_015562.1 NP_056377.1 O94888 UBXN7_HUMAN UBX domain protein 7 NA NA Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|nucleus (GO:0005634) transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625) NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 18 TTAGTGCCAGCGTTAGTGTCA 0.313 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB018337 CCDS43191.1 3q29 2012-07-06 2008-07-25 2008-07-25 ENSG00000163960 ENSG00000163960 26043 UBX domain containing 29119 protein-coding gene gene with protein product UBX domain containing 7 UBXD7 NA 9872452, 22537386 Standard XM_087353 NM_015562 NA Approved KIAA0794 uc003fwm.4 O94888 OTTHUMG00000155639 ENST00000296328.4:c.*5407G>T chr3.hg19:g.196078149C>A NA D3DXB3|Q6ZP77|Q86X20|Q8N327 hg19 CCDS43191.1 0.02 9.053911 CAGxGTT COVERED NOVEL UBXN7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000340938.2 3 14.144626 KEEP 0 0 0 47 1599 CC 1 1 0 - 11 60 401 0 0 25.98703 228 60 7884 335 ENST00000296328.4 0.046025 1 UBXN7 26043 __UNKNOWN__ __UNKNOWN__ 3 196078746 196078746 __UNKNOWN__ 3'UTR SNP C C T rs9848247|rs35589306 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:196078746C>T ENST00000296328.4 - 0 6354 NM_015562.1 NP_056377.1 O94888 UBXN7_HUMAN UBX domain protein 7 NA NA Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|nucleus (GO:0005634) transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625) NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 18 GGTATTTTCCCTAAGTGTGCA 0.413 NA C||| 2792 0.557508 0.3926 0.5591 5008 , , NA 18062 0.8542 NA 0.5308 False NA ,,, NA NA NA 2504 0.501 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB018337 CCDS43191.1 3q29 2012-07-06 2008-07-25 2008-07-25 ENSG00000163960 ENSG00000163960 26043 UBX domain containing 29119 protein-coding gene gene with protein product UBX domain containing 7 UBXD7 NA 9872452, 22537386 Standard XM_087353 NM_015562 NA Approved KIAA0794 uc003fwm.4 O94888 OTTHUMG00000155639 ENST00000296328.4:c.*4810G>A chr3.hg19:g.196078746C>T NA D3DXB3|Q6ZP77|Q86X20|Q8N327 hg19 CCDS43191.1 0.02 1.889413 TCCxTAA COVERED NOVEL UBXN7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000340938.2 1 2.407738 KEEP 0 0 0 8 282 CC 0.99257 0.992433 0 - 12 60 437 0 0 34.079234 78 60 2878 110 ENST00000296328.4 0.133333 0.999862 UBXN7 26043 __UNKNOWN__ __UNKNOWN__ 3 196118621 196118621 __UNKNOWN__ Intron SNP A A T rs6583305 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:196118621A>T ENST00000296328.4 - 5 543 UBXN7_ENST00000428095.1_Intron|UBXN7_ENST00000535858.1_Intron NM_015562.1 NP_056377.1 O94888 UBXN7_HUMAN UBX domain protein 7 NA NA Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|nucleus (GO:0005634) transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625) NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 18 GTAATTTTTTAAAAAAAGGCA 0.423 NA T||| 2229 0.445088 0.3275 0.4553 5008 , , NA 20073 0.8026 NA 0.3638 False NA ,,, NA NA NA 2504 0.3119 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB018337 CCDS43191.1 3q29 2012-07-06 2008-07-25 2008-07-25 ENSG00000163960 ENSG00000163960 26043 UBX domain containing 29119 protein-coding gene gene with protein product UBX domain containing 7 UBXD7 NA 9872452, 22537386 Standard XM_087353 NM_015562 NA Approved KIAA0794 uc003fwm.4 O94888 OTTHUMG00000155639 ENST00000296328.4:c.468+62T>A chr3.hg19:g.196118621A>T NA D3DXB3|Q6ZP77|Q86X20|Q8N327 hg19 CCDS43191.1 0.02 8.454865 TTTxAAA COVERED NOVEL UBXN7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000340938.2 0 10.2936 KEEP 0 2 62 56 1686 AA 1 1 0 - 19 60 680 0 0 48.266064 220 60 7683 343 ENST00000296328.4 0.079498 1 UBXN7 26043 __UNKNOWN__ __UNKNOWN__ 3 196118868 196118868 __UNKNOWN__ Intron SNP A A C rs369496809|rs6779332 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:196118868A>C ENST00000296328.4 - 5 430 UBXN7_ENST00000428095.1_Intron|UBXN7_ENST00000535858.1_Intron NM_015562.1 NP_056377.1 O94888 UBXN7_HUMAN UBX domain protein 7 NA NA Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|nucleus (GO:0005634) transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625) NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 18 AAAAAAAAAAACACAAACTTC 0.303 NA A||| 2860 0.571086 0.4478 0.5634 5008 , , NA 16141 0.8492 NA 0.5278 False NA ,,, NA NA NA 2504 0.501 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB018337 CCDS43191.1 3q29 2012-07-06 2008-07-25 2008-07-25 ENSG00000163960 ENSG00000163960 26043 UBX domain containing 29119 protein-coding gene gene with protein product UBX domain containing 7 UBXD7 NA 9872452, 22537386 Standard XM_087353 NM_015562 NA Approved KIAA0794 uc003fwm.4 O94888 OTTHUMG00000155639 ENST00000296328.4:c.356-72T>G chr3.hg19:g.196118868A>C NA D3DXB3|Q6ZP77|Q86X20|Q8N327 hg19 CCDS43191.1 0.02 1.953154 AAAxCAC COVERED NOVEL UBXN7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000340938.2 0 2.704533 KEEP 0 0 0 9 234 AA 0.99254 0.982161 0 - 4 60 145 0 0 10.717344 37 60 1284 70 ENST00000296328.4 0.097561 0.989542 RNF168 165918 __UNKNOWN__ __UNKNOWN__ 3 196230564 196230564 __UNKNOWN__ 5'UTR SNP G G C rs9837291 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:196230564G>C ENST00000318037.3 - 0 75 NM_152617.3 NP_689830.2 Q8IYW5 RN168_HUMAN ring finger protein 168, E3 ubiquitin protein ligase NA NA cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K13 ubiquitination (GO:0036351)|histone H2A-K15 ubiquitination (GO:0036352)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511) mitochondrion (GO:0005739)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151) chromatin binding (GO:0003682)|histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1) 20 all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00348) CAGTTTCCCAGAGCTCCGCGC 0.682 NA G||| 3132 0.625399 0.7012 0.5432 5008 , , NA 13173 0.6915 NA 0.5557 False NA ,,, NA NA NA 2504 0.5849 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AK054732 CCDS3317.1 3q29 2014-09-17 2012-02-23 ENSG00000163961 ENSG00000163961 165918 RING-type (C3HC4) zinc fingers 26661 protein-coding gene gene with protein product 612688 ring finger protein 168 NA 12477932 Standard NM_152617 NM_152617 NA Approved FLJ35794 uc003fwq.3 Q8IYW5 OTTHUMG00000155582 ENST00000318037.3:c.-520C>G chr3.hg19:g.196230564G>C NA Q8NA67|Q96NS4 hg19 CCDS3317.1 0.02 8.554871 CCAxAGC COVERED NOVEL RNF168-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000340778.1 1 54.71537 KEEP 0 4 132 228 7960 GG 1 1 0 - 9 60 335 0 0 21.149837 230 60 8505 578 ENST00000318037.3 0.037657 1 FBXO45 200933 __UNKNOWN__ __UNKNOWN__ 3 196311923 196311923 __UNKNOWN__ 3'UTR SNP T T C rs139332492 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:196311923T>C ENST00000311630.6 + 0 1892 FBXO45_ENST00000440469.1_3'UTR NM_001105573.1 NP_001099043.1 P0C2W1 FBSP1_HUMAN F-box protein 45 NA NA anterior commissure morphogenesis (GO:0021960)|cellular response to DNA damage stimulus (GO:0006974)|cerebral cortex radially oriented cell migration (GO:0021799)|cerebral cortex tangential migration (GO:0021800)|corticospinal tract morphogenesis (GO:0021957)|neuron migration (GO:0001764)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|synapse assembly involved in innervation (GO:0060386) cell junction (GO:0030054)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211) cervix(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 7 all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;2.75e-23)|all cancers(36;2.47e-21)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00314) GTATTATTTTTGGCTTACAGT 0.348 NA T||| 72 0.014377 0.0 0.0 5008 , , NA 16445 0.0694 NA 0.0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK025697 CCDS46985.1 3q29 2008-02-05 ENSG00000174013 ENSG00000174013 200933 F-boxes / other 29148 protein-coding gene gene with protein product 609112 NA Standard NM_001105573 NA Approved Fbx45 uc010iai.3 P0C2W1 OTTHUMG00000155571 ENST00000311630.6:c.*734T>C chr3.hg19:g.196311923T>C NA A6NF90|D3DXB5 hg19 CCDS46985.1 0.02 10.155475 TTTxGGC COVERED NOVEL FBXO45-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000340687.2 1 13.236797 KEEP 0 0 0 44 1340 TT 1 1 0 + 13 60 437 0 0 27.247175 259 60 9422 367 ENST00000311630.6 0.047794 1 FBXO45 200933 __UNKNOWN__ __UNKNOWN__ 3 196314211 196314211 __UNKNOWN__ 3'UTR SNP A A G rs9825103 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:196314211A>G ENST00000311630.6 + 0 4180 NM_001105573.1 NP_001099043.1 P0C2W1 FBSP1_HUMAN F-box protein 45 NA NA anterior commissure morphogenesis (GO:0021960)|cellular response to DNA damage stimulus (GO:0006974)|cerebral cortex radially oriented cell migration (GO:0021799)|cerebral cortex tangential migration (GO:0021800)|corticospinal tract morphogenesis (GO:0021957)|neuron migration (GO:0001764)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|synapse assembly involved in innervation (GO:0060386) cell junction (GO:0030054)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211) cervix(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 7 all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;2.75e-23)|all cancers(36;2.47e-21)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00314) TATTTGACTTAAATGTTAAGC 0.279 NA G||| 1996 0.398562 0.3752 0.4467 5008 , , NA 20947 0.6726 NA 0.2157 False NA ,,, NA NA NA 2504 0.3016 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK025697 CCDS46985.1 3q29 2008-02-05 ENSG00000174013 ENSG00000174013 200933 F-boxes / other 29148 protein-coding gene gene with protein product 609112 NA Standard NM_001105573 NA Approved Fbx45 uc010iai.3 P0C2W1 OTTHUMG00000155571 ENST00000311630.6:c.*3022A>G chr3.hg19:g.196314211A>G NA A6NF90|D3DXB5 hg19 CCDS46985.1 0.02 4.590684 CTTxAAT COVERED NOVEL FBXO45-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000340687.2 0 5.415333 KEEP 0 0 0 18 561 AA 0.999859 0.999859 0 + 8 60 301 0 0 20.734299 127 60 4557 175 ENST00000311630.6 0.059259 1 CEP19 84984 __UNKNOWN__ __UNKNOWN__ 3 196435697 196435697 __UNKNOWN__ Intron SNP C C T rs72499688 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:196435697C>T ENST00000399942.4 - 2 320 CEP19_ENST00000409690.3_Intron Q96LK0 CEP19_HUMAN centrosomal protein 19kDa NA NA centriole (GO:0005814)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922) NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 10 TGGCCACACACGCTCAGCCTG 0.458 NA C||| 1028 0.205272 0.1044 0.1225 5008 , , NA 19135 0.5546 NA 0.0278 False NA ,,, NA NA NA 2504 0.2229 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC007827 CCDS43193.2 3q29 2014-02-20 2011-05-06 2011-05-06 ENSG00000174007 ENSG00000174007 84984 28209 protein-coding gene gene with protein product 615586 chromosome 3 open reading frame 34 C3orf34 NA 21399614 Standard NM_032898 XM_005269370 NA Approved MGC14126 uc011btw.2 Q96LK0 OTTHUMG00000153933 ENST00000399942.4:c.26-914G>A chr3.hg19:g.196435697C>T NA B2RA74|Q96I48 hg19 0.02 6.671858 ACAxGCT COVERED NOVEL CEP19-002 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000333081.1 0 7.823585 KEEP 0 0 0 26 846 CC 0.999957 0.999957 0 - 11 60 399 0 0 27.458797 159 60 5472 208 ENST00000399942.4 0.064706 1 CEP19 84984 __UNKNOWN__ __UNKNOWN__ 3 196438744 196438744 __UNKNOWN__ Intron SNP A A G rs7629566 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:196438744A>G ENST00000399942.4 - 1 320 CEP19_ENST00000409690.3_Intron Q96LK0 CEP19_HUMAN centrosomal protein 19kDa NA NA centriole (GO:0005814)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922) NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 10 GTCCCCAAAGAGTAGACGATT 0.498 NA G||| 1297 0.258986 0.2526 0.1398 5008 , , NA 18589 0.5516 NA 0.0855 False NA ,,, NA NA NA 2504 0.229 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC007827 CCDS43193.2 3q29 2014-02-20 2011-05-06 2011-05-06 ENSG00000174007 ENSG00000174007 84984 28209 protein-coding gene gene with protein product 615586 chromosome 3 open reading frame 34 C3orf34 NA 21399614 Standard NM_032898 XM_005269370 NA Approved MGC14126 uc011btw.2 Q96LK0 OTTHUMG00000153933 ENST00000399942.4:c.25+55T>C chr3.hg19:g.196438744A>G NA B2RA74|Q96I48 hg19 0.02 12.209101 AAGxGTA COVERED NOVEL CEP19-002 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000333081.1 3 26.776356 KEEP 0 0 0 89 2788 AA 1 1 0 - 15 60 517 0 0 34.156915 239 60 8917 429 ENST00000399942.4 0.059055 1 CEP19 84984 __UNKNOWN__ __UNKNOWN__ 3 196438826 196438826 __UNKNOWN__ 5'UTR SNP G G T rs7639719 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:196438826G>T ENST00000399942.4 - 0 293 CEP19_ENST00000409690.3_5'UTR Q96LK0 CEP19_HUMAN centrosomal protein 19kDa NA NA centriole (GO:0005814)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922) NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 10 AAATGACATCGTCTGCAGGCC 0.542 NA T||| 1320 0.263578 0.2534 0.1427 5008 , , NA 18778 0.5595 NA 0.0875 False NA ,,, NA NA NA 2504 0.2393 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant BC007827 CCDS43193.2 3q29 2014-02-20 2011-05-06 2011-05-06 ENSG00000174007 ENSG00000174007 84984 28209 protein-coding gene gene with protein product 615586 chromosome 3 open reading frame 34 C3orf34 NA 21399614 Standard NM_032898 XM_005269370 NA Approved MGC14126 uc011btw.2 Q96LK0 OTTHUMG00000153933 ENST00000399942.4:c.-2C>A chr3.hg19:g.196438826G>T NA B2RA74|Q96I48 hg19 0.02 6.640127 ATCxTCT COVERED NOVEL CEP19-002 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000333081.1 1 21.670095 KEEP 0 0 0 72 2529 GG 1 1 0 - 12 60 428 0 0 29.239717 173 60 6260 327 ENST00000399942.4 0.064865 1 PIGX 54965 __UNKNOWN__ __UNKNOWN__ 3 196443826 196443826 __UNKNOWN__ Intron SNP A A G rs1906045 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:196443826A>G ENST00000421265.1 + 2 106 PIGX_ENST00000541663.1_Intron|PIGX_ENST00000314118.4_Intron|PIGX_ENST00000495440.1_Intron Q8TBF5 PIGX_HUMAN phosphatidylinositol glycan anchor biosynthesis, class X NA NA C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) endometrium(1)|large_intestine(5)|lung(4)|stomach(1) 11 all_cancers(143;1.41e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.07e-23)|all cancers(36;1.08e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00322) TTCTATTAAAATAATGTGTCA 0.348 NA A||| 2286 0.45647 0.4887 0.4236 5008 , , NA 13806 0.5317 NA 0.3549 False NA ,,, NA NA NA 2504 0.4632 NA NA NA NA 0 A , 1943,2461 519.1+/-369.9 440,1063,699 60 62 62 , -4.4 0 3 dbSNP_92 62 3160,5438 455.4+/-363.8 552,2056,1691 no intron,intron PIGX NM_001166304.1,NM_017861.3 , 992,3119,2390 GG,GA,AA 36.7527,44.119,39.2478 , , 196443826 5103,7899 2202 4299 6501 SO:0001627 intron_variant AK000529 CCDS3320.1, CCDS3320.2, CCDS54701.1 3q29 2013-02-26 2006-06-28 ENSG00000163964 ENSG00000163964 54965 Phosphatidylinositol glycan anchor biosynthesis 26046 protein-coding gene gene with protein product 610276 phosphatidylinositol glycan, class X NA 15635094 Standard NM_017861 NM_017861 NA Approved FLJ20522 uc010iaj.3 Q8TBF5 OTTHUMG00000155535 ENST00000421265.1:c.53+34A>G chr3.hg19:g.196443826A>G NA Q9NWZ2 hg19 0.02 14.487904 AAAxTAA COVERED NOVEL PIGX-008 PUTATIVE basic protein_coding NA protein_coding OTTHUMT00000340684.1 0 24.968729 KEEP 0 0 0 83 2532 AA 1 1 0 + 16 60 612 0 0 41.433338 296 60 11009 475 ENST00000421265.1 0.051282 1 PIGX 54965 __UNKNOWN__ __UNKNOWN__ 3 196453427 196453427 __UNKNOWN__ Intron SNP C C A rs1976847 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:196453427C>A ENST00000421265.1 + 4 248 PIGX_ENST00000541663.1_Intron|PIGX_ENST00000314118.4_Intron Q8TBF5 PIGX_HUMAN phosphatidylinositol glycan anchor biosynthesis, class X NA NA C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) endometrium(1)|large_intestine(5)|lung(4)|stomach(1) 11 all_cancers(143;1.41e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.07e-23)|all cancers(36;1.08e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00322) TAATATTGCTCCTGTACTCTA 0.363 NA A||| 2324 0.464058 0.5166 0.4265 5008 , , NA 21579 0.5317 NA 0.3549 False NA ,,, NA NA NA 2504 0.4622 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK000529 CCDS3320.1, CCDS3320.2, CCDS54701.1 3q29 2013-02-26 2006-06-28 ENSG00000163964 ENSG00000163964 54965 Phosphatidylinositol glycan anchor biosynthesis 26046 protein-coding gene gene with protein product 610276 phosphatidylinositol glycan, class X NA 15635094 Standard NM_017861 NM_017861 NA Approved FLJ20522 uc010iaj.3 Q8TBF5 OTTHUMG00000155535 ENST00000421265.1:c.196-1367C>A chr3.hg19:g.196453427C>A NA Q9NWZ2 hg19 0.02 12.392339 GCTxCTG COVERED NOVEL PIGX-008 PUTATIVE basic protein_coding NA protein_coding OTTHUMT00000340684.1 1 8.426068 KEEP 0 0 0 28 930 CC 0.999997 0.999997 0 + 9 60 324 0 0 18.997148 303 60 11362 374 ENST00000421265.1 0.028846 1 PIGX 54965 __UNKNOWN__ __UNKNOWN__ 3 196453654 196453654 __UNKNOWN__ Intron SNP C C A rs12637375 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:196453654C>A ENST00000421265.1 + 4 248 PIGX_ENST00000541663.1_Intron|PIGX_ENST00000314118.4_Intron Q8TBF5 PIGX_HUMAN phosphatidylinositol glycan anchor biosynthesis, class X NA NA C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) endometrium(1)|large_intestine(5)|lung(4)|stomach(1) 11 all_cancers(143;1.41e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.07e-23)|all cancers(36;1.08e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00322) ttagtacatacagtttctact 0.353 NA C||| 2067 0.41274 0.4032 0.3112 5008 , , NA 19992 0.5228 NA 0.3469 False NA ,,, NA NA NA 2504 0.4519 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK000529 CCDS3320.1, CCDS3320.2, CCDS54701.1 3q29 2013-02-26 2006-06-28 ENSG00000163964 ENSG00000163964 54965 Phosphatidylinositol glycan anchor biosynthesis 26046 protein-coding gene gene with protein product 610276 phosphatidylinositol glycan, class X NA 15635094 Standard NM_017861 NM_017861 NA Approved FLJ20522 uc010iaj.3 Q8TBF5 OTTHUMG00000155535 ENST00000421265.1:c.196-1140C>A chr3.hg19:g.196453654C>A NA Q9NWZ2 hg19 0.02 8.70049 ATAxAGT COVERED NOVEL PIGX-008 PUTATIVE basic protein_coding NA protein_coding OTTHUMT00000340684.1 0 10.524107 KEEP 0 0 0 35 1191 CC 0.999999 0.999999 0 + 14 60 501 0 0 34.448455 196 60 7440 261 ENST00000421265.1 0.066667 1 PAK2 5062 __UNKNOWN__ __UNKNOWN__ 3 196533671 196533671 __UNKNOWN__ Intron SNP G G A rs35013100 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:196533671G>A ENST00000327134.3 + 6 898 NM_002577.4 NP_002568.2 Q13177 PAK2_HUMAN p21 protein (Cdc42/Rac)-activated kinase 2 NA NA apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:2001271)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of defense response to virus by virus (GO:0050690)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activator activity (GO:0030296) breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2) 12 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00405) GTTTAAAATCGTTTAGTATGG 0.343 NA G||| 1100 0.219649 0.1135 0.1599 5008 , , NA 19152 0.3433 NA 0.1948 False NA ,,, NA NA NA 2504 0.3037 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U24153 CCDS3321.1 3q29 2008-06-17 2008-06-17 ENSG00000180370 5062 2.7.11.1 8591 protein-coding gene gene with protein product S6/H4 kinase 605022 p21 (CDKN1A)-activated kinase 2 NA 7744004, 7618083 Standard NM_002577 NM_002577 NA Approved PAK65, PAKgamma uc003fwy.4 Q13177 ENST00000327134.3:c.576+114G>A chr3.hg19:g.196533671G>A NA Q13154|Q6ISC3 hg19 CCDS3321.1 0.02 4.458005 ATCxTTT COVERED NOVEL PAK2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000340548.1 3 8.728355 KEEP 0 0 0 29 1018 GG 0.999997 0.999994 0 + 8 60 271 0 0 18.407169 108 60 3918 155 ENST00000327134.3 0.068966 0.999997 PAK2 5062 __UNKNOWN__ __UNKNOWN__ 3 196547446 196547446 __UNKNOWN__ Intron SNP G G C rs2084382 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:196547446G>C ENST00000327134.3 + 13 1672 NM_002577.4 NP_002568.2 Q13177 PAK2_HUMAN p21 protein (Cdc42/Rac)-activated kinase 2 NA NA apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:2001271)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of defense response to virus by virus (GO:0050690)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activator activity (GO:0030296) breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2) 12 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00405) AGGGTAAGATGAGTTAAACAC 0.408 NA C||| 2189 0.437101 0.6112 0.3458 5008 , , NA 19252 0.3036 NA 0.3618 False NA ,,, NA NA NA 2504 0.4816 NA NA NA NA 0 C 2616,1790 528.2+/-372.3 773,1070,360 74 66 69 1.6 0 3 dbSNP_96 69 2871,5729 672.7+/-403.0 477,1917,1906 no intron PAK2 NM_002577.4 1250,2987,2266 CC,CG,GG 33.3837,40.6264,42.1882 196547446 5487,7519 2203 4300 6503 SO:0001627 intron_variant U24153 CCDS3321.1 3q29 2008-06-17 2008-06-17 ENSG00000180370 5062 2.7.11.1 8591 protein-coding gene gene with protein product S6/H4 kinase 605022 p21 (CDKN1A)-activated kinase 2 NA 7744004, 7618083 Standard NM_002577 NM_002577 NA Approved PAK65, PAKgamma uc003fwy.4 Q13177 ENST00000327134.3:c.1350+8G>C chr3.hg19:g.196547446G>C NA Q13154|Q6ISC3 hg19 CCDS3321.1 0.02 7.385112 GATxAGT COVERED NOVEL PAK2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000340548.1 1 7.823493 KEEP 0 0 0 26 865 GG 0.999957 0.999957 0 + 8 60 297 0 0 19.800696 149 60 5636 211 ENST00000327134.3 0.050955 1 PAK2 5062 __UNKNOWN__ __UNKNOWN__ 3 196556809 196556809 __UNKNOWN__ 3'UTR SNP T T C rs1129168 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:196556809T>C ENST00000327134.3 + 0 3430 NM_002577.4 NP_002568.2 Q13177 PAK2_HUMAN p21 protein (Cdc42/Rac)-activated kinase 2 NA NA apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:2001271)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of defense response to virus by virus (GO:0050690)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activator activity (GO:0030296) breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2) 12 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00405) cctctcctcttcttctcctTT 0.428 NA C||| 4063 0.811302 0.9728 0.7522 5008 , , NA 14069 0.8879 NA 0.6292 False NA ,,, NA NA NA 2504 0.7434 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U24153 CCDS3321.1 3q29 2008-06-17 2008-06-17 ENSG00000180370 5062 2.7.11.1 8591 protein-coding gene gene with protein product S6/H4 kinase 605022 p21 (CDKN1A)-activated kinase 2 NA 7744004, 7618083 Standard NM_002577 NM_002577 NA Approved PAK65, PAKgamma uc003fwy.4 Q13177 ENST00000327134.3:c.*1533T>C chr3.hg19:g.196556809T>C NA Q13154|Q6ISC3 hg19 CCDS3321.1 0.02 4.452245 TCTxCTT COVERED NOVEL PAK2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000340548.1 0 5.369399 KEEP 0 0 0 18 541 TT 0.999859 0.999859 0 + 11 60 407 0 0 29.662161 117 60 4202 177 ENST00000327134.3 0.085937 1 SENP5 205564 __UNKNOWN__ __UNKNOWN__ 3 196597803 196597803 __UNKNOWN__ Intron SNP A A C rs2342067 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:196597803A>C ENST00000323460.5 + 1 218 SENP5_ENST00000419026.1_Intron|SENP5_ENST00000445299.2_Intron NM_152699.4 NP_689912.2 Q96HI0 SENP5_HUMAN SUMO1/sentrin specific peptidase 5 NA NA cell cycle (GO:0007049)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925) intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) cysteine-type peptidase activity (GO:0008234) NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1) 32 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.004) gcactttgggaggccgaggcg 0.468 NA A||| 2397 0.478634 0.5567 0.4467 5008 , , NA 15950 0.7252 NA 0.2942 False NA ,,, NA NA NA 2504 0.3313 NA NA NA Ovarian(47;891 1095 11174 13858 51271) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC030705 CCDS3322.1 3q29 2005-08-17 2005-08-17 ENSG00000119231 ENSG00000119231 205564 28407 protein-coding gene gene with protein product 612845 SUMO1/sentrin specific protease 5 NA 12477932 Standard NM_152699 NM_152699 NA Approved MGC27076 uc003fwz.4 Q96HI0 OTTHUMG00000155527 ENST00000323460.5:c.-32+2859A>C chr3.hg19:g.196597803A>C NA B4DY82|Q96SA5 hg19 CCDS3322.1 0.02 -0.105275 GGGxGGC UNCOVERED NOVEL SENP5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000340524.1 2 2.708331 KEEP 1 0 0 9 286 AA 0.99257 0.138793 0 + 3 60 100 0 0 8.500856 9 60 328 28 ENST00000323460.5 0.25 0.139832 SENP5 205564 __UNKNOWN__ __UNKNOWN__ 3 196625691 196625691 __UNKNOWN__ Intron SNP A A T rs12487121 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:196625691A>T ENST00000323460.5 + 3 1762 SENP5_ENST00000445299.2_Intron|SENP5_ENST00000419026.1_Intron NM_152699.4 NP_689912.2 Q96HI0 SENP5_HUMAN SUMO1/sentrin specific peptidase 5 NA NA cell cycle (GO:0007049)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925) intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) cysteine-type peptidase activity (GO:0008234) NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1) 32 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.004) agaccattcgatgattgcatt 0.388 NA NA NA NA NA NA NA NA NA NA Ovarian(47;891 1095 11174 13858 51271) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC030705 CCDS3322.1 3q29 2005-08-17 2005-08-17 ENSG00000119231 ENSG00000119231 205564 28407 protein-coding gene gene with protein product 612845 SUMO1/sentrin specific protease 5 NA 12477932 Standard NM_152699 NM_152699 NA Approved MGC27076 uc003fwz.4 Q96HI0 OTTHUMG00000155527 ENST00000323460.5:c.1514-846A>T chr3.hg19:g.196625691A>T NA B4DY82|Q96SA5 hg19 CCDS3322.1 0.02 4.667445 TCGxTGA COVERED NOVEL SENP5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000340524.1 79 17.696587 KEEP 62 4 138 107 3491 AA 1 1 0 + 6 49 231 0 0 16.709154 74 60 2842 499 ENST00000323460.5 0.075 1 NCBP2 22916 __UNKNOWN__ __UNKNOWN__ 3 196662521 196662521 __UNKNOWN__ 3'UTR SNP G G A rs6734 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:196662521G>A ENST00000447325.1 - 0 1971 NCBP2_ENST00000467803.1_Intron|NCBP2_ENST00000321256.5_3'UTR|NCBP2_ENST00000427641.2_3'UTR P52298 NCBP2_HUMAN nuclear cap binding protein subunit 2, 20kDa NA NA 7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of RNA export from nucleus (GO:0046833)|positive regulation of viral transcription (GO:0050434)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|snRNA export from nucleus (GO:0006408)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032) cytoplasm (GO:0005737)|cytosol (GO:0005829)|mRNA cap binding complex (GO:0005845)|nuclear cap binding complex (GO:0005846)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|RNA cap binding (GO:0000339) breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 5 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;3.42e-24)|all cancers(36;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(49;4.13e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00551) TCAGTTTAACGGGAGAGACAT 0.353 NA G||| 2227 0.444688 0.4402 0.438 5008 , , NA 19362 0.7252 NA 0.2903 False NA ,,, NA NA NA 2504 0.3252 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D59253 CCDS3323.1, CCDS46986.1 3q29 2013-02-12 2002-08-29 ENSG00000114503 ENSG00000114503 22916 RNA binding motif (RRM) containing 7659 protein-coding gene gene with protein product 605133 nuclear cap binding protein subunit 2, 20kD NA 7478990, 7651522, 8682299 Standard NM_007362 NM_001042540 NA Approved NIP1, CBP20, Cbc2 uc003fxd.1 P52298 OTTHUMG00000155520 ENST00000447325.1:c.*1361C>T chr3.hg19:g.196662521G>A NA B2RE91|B4DMK7|E9PAR5|Q14924|Q2TS50 hg19 0.02 13.693425 AACxGGA COVERED NOVEL NCBP2-007 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000340476.1 3 19.329654 KEEP 0 2 53 83 2792 GG 1 1 0 - 19 60 686 0 0 46.332189 304 60 10735 523 ENST00000447325.1 0.058824 1 NCBP2 22916 __UNKNOWN__ __UNKNOWN__ 3 196662804 196662804 __UNKNOWN__ 3'UTR SNP G G A rs146651021 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:196662804G>A ENST00000447325.1 - 0 1688 NCBP2_ENST00000467803.1_Intron|NCBP2_ENST00000321256.5_3'UTR|NCBP2_ENST00000427641.2_3'UTR P52298 NCBP2_HUMAN nuclear cap binding protein subunit 2, 20kDa NA NA 7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of RNA export from nucleus (GO:0046833)|positive regulation of viral transcription (GO:0050434)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|snRNA export from nucleus (GO:0006408)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032) cytoplasm (GO:0005737)|cytosol (GO:0005829)|mRNA cap binding complex (GO:0005845)|nuclear cap binding complex (GO:0005846)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|RNA cap binding (GO:0000339) breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 5 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;3.42e-24)|all cancers(36;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(49;4.13e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00551) GGAAAAAAATGAGAAATGGCT 0.433 NA G||| 14 0.00279553 0.0 0.0 5008 , , NA 19173 0.0139 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D59253 CCDS3323.1, CCDS46986.1 3q29 2013-02-12 2002-08-29 ENSG00000114503 ENSG00000114503 22916 RNA binding motif (RRM) containing 7659 protein-coding gene gene with protein product 605133 nuclear cap binding protein subunit 2, 20kD NA 7478990, 7651522, 8682299 Standard NM_007362 NM_001042540 NA Approved NIP1, CBP20, Cbc2 uc003fxd.1 P52298 OTTHUMG00000155520 ENST00000447325.1:c.*1078C>T chr3.hg19:g.196662804G>A NA B2RE91|B4DMK7|E9PAR5|Q14924|Q2TS50 hg19 0.02 6.502869 AATxAGA COVERED NOVEL NCBP2-007 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000340476.1 0 16.553561 KEEP 0 0 0 55 1930 GG 1 1 0 - 19 60 649 0 0 47.876362 159 70 5944 277 ENST00000447325.1 0.106742 1 NCBP2-AS2 152217 __UNKNOWN__ __UNKNOWN__ 3 196669912 196669912 __UNKNOWN__ lincRNA SNP C C T rs335824 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:196669912C>T ENST00000602845.1 + 0 419 NR_024388.1 Q69YL0 NCAS2_HUMAN NCBP2 antisense RNA 2 (head to head) NA NA NA GGGCCGAGGCCGCTTGCTTTT 0.662 NA C||| 2138 0.426917 0.3669 0.4352 5008 , , NA 15797 0.7232 NA 0.3002 False NA ,,, NA NA NA 2504 0.3272 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA BC007882 3q29 2013-05-17 ENSG00000270170 ENSG00000270170 152217 Long non-coding RNAs 25121 non-coding RNA RNA, long non-coding NA 12477932 Standard NM_138487 NR_024388 NA Approved Q69YL0 OTTHUMG00000184107 ENST00000602845.1: chr3.hg19:g.196669912C>T NA hg19 0.02 2.122034 GGCxGCT COVERED NOVEL NCBP2-AS2-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000468038.1 0 12.93817 KEEP 0 0 0 43 1349 CC 1 0.998695 0 + 7 60 266 0 0 19.801658 69 60 2209 125 ENST00000602845.1 0.092105 0.998696 PIGZ 80235 __UNKNOWN__ __UNKNOWN__ 3 196674916 196674916 __UNKNOWN__ Silent SNP A A C rs1147240 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:196674916A>C ENST00000412723.1 - 3 998 c.852T>G c.(850-852)gcT>gcG p.A284A NM_025163.2 NP_079439.2 Q86VD9 PIGZ_HUMAN phosphatidylinositol glycan anchor biosynthesis, class Z 284 NA GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) alpha-1,2-mannosyltransferase activity (GO:0000026)|mannosyltransferase activity (GO:0000030) breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1) 14 all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838) Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00603) TCCTGGATGTAGCGGGGCTGG 0.607 NA A||| 2891 0.577276 0.6672 0.4568 5008 , , NA 18756 0.7698 NA 0.3976 False NA ,,, NA NA NA 2504 0.5276 NA NA NA NA 0 A 2723,1683 639.9+/-397.2 832,1059,312 104 110 108 852 -8.1 0 3 dbSNP_87 108 3228,5372 471.3+/-368.1 617,1994,1689 no coding-synonymous PIGZ NM_025163.2 1449,3053,2001 CC,CA,AA 37.5349,38.1979,45.7558 284/580 196674916 5951,7055 2203 4300 6503 SO:0001819 synonymous_variant BC018804 CCDS3324.1 3q29 2013-02-26 2006-06-28 ENSG00000119227 ENSG00000119227 80235 Dolichyl D-mannosyl phosphate dependent mannosyltransferases, Phosphatidylinositol glycan anchor biosynthesis 30596 protein-coding gene gene with protein product GPI mannosyltransferase 4, dol-P-Man dependent GPI mannosyltransferase 611671 phosphatidylinositol glycan, class Z NA 15208306 Standard NM_025163 NM_025163 NA Approved FLJ12768, MGC52163, SMP3 uc003fxh.3 Q86VD9 OTTHUMG00000155522 ENST00000412723.1:c.852T>G chr3.hg19:g.196674916A>C NA Q9H9G6 hg19 CCDS3324.1 0.02 26.880177 TGTxGCG COVERED NOVEL PIGZ-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000340486.2 1 25.399145 KEEP 0 1 27 94 2922 AA 1 1 0 - 35 60 1246 0 1 84.699371 517 60 18825 834 ENST00000412723.1 0.063406 1 AC024560.3 0 __UNKNOWN__ __UNKNOWN__ 3 197348668 197348668 __UNKNOWN__ RNA SNP C C G rs79940815 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:197348668C>G ENST00000418868.1 - 0 591 NR_003266.2 NA NA NA ACTTGAGGCTCTGTCCACCAA 0.488 NA C||| 539 0.107628 0.0083 0.0692 5008 , , NA 20710 0.1776 NA 0.1074 False NA ,,, NA NA NA 2504 0.1973 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000418868.1: chr3.hg19:g.197348668C>G NA hg19 0.02 1.85456 GCTxTGT COVERED NOVEL AC024560.3-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000340283.1 0 2.943152 KEEP 0 1 26 19 677 CC 0.999863 0.999782 0 - 4 40 153 0 0 10.045919 89 60 3343 138 ENST00000418868.1 0.043011 0.999919 AC024560.3 0 __UNKNOWN__ __UNKNOWN__ 3 197349059 197349059 __UNKNOWN__ RNA SNP T T G rs145900415 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:197349059T>G ENST00000418868.1 - 0 518 NR_003266.2 NA NA NA GCCCATCACCTCGACCATGGC 0.577 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000418868.1: chr3.hg19:g.197349059T>G NA hg19 0.02 2.032186 ACCxCGA COVERED NOVEL AC024560.3-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000340283.1 1 4.844503 KEEP 6 1 31 27 842 TT 0.999909 0.998375 0 - 4 25 136 0 0 8.737672 71 60 2522 140 ENST00000418868.1 0.053333 0.998465 AC024560.3 0 __UNKNOWN__ __UNKNOWN__ 3 197351126 197351126 __UNKNOWN__ RNA SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:197351126C>T ENST00000418868.1 - 0 127 NR_003266.2 NA NA NA ACAAATGCTGCGGGGGATAGT 0.502 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000418868.1: chr3.hg19:g.197351126C>T NA hg19 0.02 2.201259 CTGxGGG COVERED NOVEL AC024560.3-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000340283.1 1 5.11263 KEEP 2 0 0 17 508 CC 0.999366 0.994453 0 - 9 25 339 0 0 26.726308 58 50 1865 90 ENST00000418868.1 0.134328 0.995084 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 197362080 197362080 __UNKNOWN__ IGR SNP T T A rs9815968 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:197362080T>A NA NA AC024560.3 (7303 upstream) : RP11-496H1.2 (10459 downstream) NA NA NA Cagaagaagatgaagatgaag 0.413 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.197362080T>A NA hg19 0.02 27.817547 AGAxGAA COVERED NOVEL 0 4 46.943408 KEEP 26 0 0 156 4982 TT 1 1 0 21 60 777 0 0 46.954074 666 60 24562 1093 0.030568 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 3 197362926 197362926 __UNKNOWN__ IGR SNP C C G rs9872876 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:197362926C>G NA NA AC024560.3 (8149 upstream) : RP11-496H1.2 (9613 downstream) NA NA NA tctttctttGCTCTGGGCAAA 0.313 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr3.hg19:g.197362926C>G NA hg19 0.02 8.98648 TTGxTCT COVERED NOVEL 0 0 4.824022 KEEP 1 3 106 53 1910 CC 1 1 0 10 60 367 0 0 23.734381 214 60 7900 361 0.044643 1 LRCH3 84859 __UNKNOWN__ __UNKNOWN__ 3 197574248 197574248 __UNKNOWN__ Intron SNP T T G rs73089359 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:197574248T>G ENST00000438796.2 + 11 1372 LRCH3_ENST00000334859.4_Intron|LRCH3_ENST00000414675.2_Intron|LRCH3_ENST00000441090.2_Intron|LRCH3_ENST00000425562.2_Intron|LRCH3_ENST00000536618.1_Intron Q96II8 LRCH3_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 3 NA NA cytoplasm (GO:0005737)|extracellular region (GO:0005576) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.119) TATCAAAGAGTTTTTTTCTTT 0.328 NA T||| 569 0.113618 0.1188 0.0908 5008 , , NA 18169 0.1845 NA 0.0736 False NA ,,, NA NA NA 2504 0.091 NA NA NA NA 0 T 418,3988 21,376,1806 75 78 77 4 0 3 dbSNP_130 77 528,8072 21,486,3793 no intron LRCH3 NM_032773.2 42,862,5599 GG,GT,TT 6.1395,9.4871,7.2736 197574248 946,12060 2203 4300 6503 SO:0001627 intron_variant AL137527 CCDS3330.1 3q29 2006-04-12 ENSG00000186001 ENSG00000186001 84859 28637 protein-coding gene gene with protein product NA 12477932 Standard NM_032773 NM_032773 NA Approved MGC4126 uc003fyj.1 Q96II8 OTTHUMG00000155378 ENST00000438796.2:c.1329-32T>G chr3.hg19:g.197574248T>G NA B4E0T7|Q96FP9|Q9NT52 hg19 0.02 2.220806 GAGxTTT COVERED NOVEL LRCH3-001 KNOWN basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000339960.1 1 15.940299 KEEP 0 0 0 53 1532 TT 1 0.998696 0 + 4 60 147 0 0 9.805378 72 60 2490 162 ENST00000438796.2 0.052632 0.998696 LRCH3 84859 __UNKNOWN__ __UNKNOWN__ 3 197579466 197579466 __UNKNOWN__ Missense_Mutation SNP C C T rs36078463 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:197579466C>T ENST00000438796.2 + 13 1609 c.1565C>T c.(1564-1566)cCg>cTg p.P522L LRCH3_ENST00000334859.4_Missense_Mutation_p.P522L|LRCH3_ENST00000414675.2_Missense_Mutation_p.P494L|LRCH3_ENST00000441090.2_Missense_Mutation_p.P368L|LRCH3_ENST00000425562.2_Missense_Mutation_p.P522L|LRCH3_ENST00000536618.1_Missense_Mutation_p.P117L Q96II8 LRCH3_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 3 522 NA P -> L (in dbSNP:rs36078463). cytoplasm (GO:0005737)|extracellular region (GO:0005576) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.119) AAACAGCACCCGCTCCTAGAT 0.383 NA C||| 527 0.105232 0.115 0.0447 5008 , , NA 16705 0.1835 NA 0.0746 False NA ,,, NA NA NA 2504 0.0859 NA NA NA NA 0 C LEU/PRO 471,3935 223.3+/-239.8 20,431,1752 155 159 158 1565 2.7 0 3 dbSNP_126 158 633,7967 164.3+/-216.7 21,591,3688 yes missense LRCH3 NM_032773.2 98 41,1022,5440 TT,TC,CC 7.3605,10.69,8.4884 benign 522/713 197579466 1104,11902 2203 4300 6503 SO:0001583 missense AL137527 CCDS3330.1 3q29 2006-04-12 ENSG00000186001 ENSG00000186001 84859 28637 protein-coding gene gene with protein product NA 12477932 Standard NM_032773 NM_032773 NA Approved MGC4126 uc003fyj.1 Q96II8 OTTHUMG00000155378 ENST00000438796.2:c.1565C>T chr3.hg19:g.197579466C>T ENSP00000399751:p.Pro522Leu NA B4E0T7|Q96FP9|Q9NT52 hg19 0.02 12.029267 ACCxGCT COVERED 213 0.09752747252747253 49 0.09959349593495935 17 0.04696132596685083 89 0.1555944055944056 58 0.07651715039577836 C 3.629 -0.076024 0.07184 0.1069 0.073605 ENSG00000186001 ENST00000438796;ENST00000441090;ENST00000414675;ENST00000334859;ENST00000425562;ENST00000536618;ENST00000452660;ENST00000433298 T;T;T;T;T;T;T;T 0.46063 2.13;1.5;2.02;2.38;2.15;0.88;0.95;0.96 5.67 2.74 0.32292 . 0.319926 0.28448 N 0.015311 T 0.00073 0.0002 N 0.17082 0.46 0.80722 P 0.0 B;B;B;B;B 0.14438 0.006;0.005;0.01;0.003;0.005 B;B;B;B;B 0.16289 0.004;0.002;0.015;0.003;0.004 T 0.06972 -1.0797 9 0.48119 T 0.1 0.3333 3.8877 0.09105 0.1691:0.5802:0.1634:0.0873 rs36078463 368;494;522;522;522 E9PD99;B4E0T7;Q96II8-2;Q96II8;Q96II8-3 .;.;.;LRCH3_HUMAN;. L 522;368;494;522;522;117;33;19 ENSP00000399751:P522L;ENSP00000394609:P368L;ENSP00000394965:P494L;ENSP00000334375:P522L;ENSP00000393579:P522L;ENSP00000439083:P117L;ENSP00000395309:P33L;ENSP00000400164:P19L ENSP00000334375:P522L P + 2 0 LRCH3 199063863 0.000000 0.05858 0.000000 0.03702 0.016000 0.09150 0.499000 0.22546 0.740000 0.32651 0.650000 0.86243 CCG NOVEL LRCH3-001 KNOWN basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000339960.1 0 30.531758 KEEP 0 1 30 112 3860 CC 1 1 0 + 11 60 427 0 0 28.327122 241 60 8480 477 ENST00000438796.2 0.043651 1 LRCH3 84859 __UNKNOWN__ __UNKNOWN__ 3 197597194 197597194 __UNKNOWN__ Intron SNP A A G rs11185486 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:197597194A>G ENST00000438796.2 + 18 2036 LRCH3_ENST00000334859.4_Intron|LRCH3_ENST00000414675.2_Intron|LRCH3_ENST00000441090.2_Intron|LRCH3_ENST00000425562.2_Intron|LRCH3_ENST00000536618.1_Intron Q96II8 LRCH3_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 3 NA NA cytoplasm (GO:0005737)|extracellular region (GO:0005576) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.119) TATTACTGCTATAGATCATAA 0.358 NA A||| 888 0.177316 0.2474 0.1282 5008 , , NA 22360 0.244 NA 0.0974 False NA ,,, NA NA NA 2504 0.1309 NA NA NA NA 0 A 1022,3384 379.9+/-323.5 100,822,1281 82 85 84 -8.5 0 3 dbSNP_120 84 806,7794 189.3+/-236.1 32,742,3526 no intron LRCH3 NM_032773.2 132,1564,4807 GG,GA,AA 9.3721,23.1956,14.0551 197597194 1828,11178 2203 4300 6503 SO:0001627 intron_variant AL137527 CCDS3330.1 3q29 2006-04-12 ENSG00000186001 ENSG00000186001 84859 28637 protein-coding gene gene with protein product NA 12477932 Standard NM_032773 NM_032773 NA Approved MGC4126 uc003fyj.1 Q96II8 OTTHUMG00000155378 ENST00000438796.2:c.1992+45A>G chr3.hg19:g.197597194A>G NA B4E0T7|Q96FP9|Q9NT52 hg19 0.02 2.172092 GCTxTAG COVERED NOVEL LRCH3-001 KNOWN basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000339960.1 0 3.30831 KEEP 0 0 0 11 313 AA 0.993072 0.992968 0 + 5 60 163 0 0 10.435696 88 60 3199 107 ENST00000438796.2 0.053763 0.999895 IQCG 84223 __UNKNOWN__ __UNKNOWN__ 3 197659160 197659160 __UNKNOWN__ Missense_Mutation SNP C C G rs67877771 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:197659160C>G ENST00000265239.6 - 6 953 c.529G>C c.(529-531)Gat>Cat p.D177H IQCG_ENST00000455191.1_Missense_Mutation_p.D177H|IQCG_ENST00000453254.1_Missense_Mutation_p.D177H NM_032263.3 NP_115639.1 Q9H095 IQCG_HUMAN IQ motif containing G 177 NA D -> H (in Ref. 4; AAH04816). {ECO:0000305}. extracellular vesicular exosome (GO:0070062) autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.149) GCAATCACATCGCTGAAAAAC 0.428 NA C||| 1411 0.281749 0.5227 0.1715 5008 , , NA 16755 0.2262 NA 0.166 False NA ,,, NA NA NA 2504 0.2106 NA NA NA NA 0 C HIS/ASP,HIS/ASP 1970,2436 556.1+/-379.4 417,1136,650 107 101 103 529,529 2.9 1 3 dbSNP_130 103 1429,7171 275.3+/-291.7 117,1195,2988 yes missense,missense IQCG NM_001134435.1,NM_032263.3 81,81 534,2331,3638 GG,GC,CC 16.6163,44.7118,26.1341 probably-damaging,probably-damaging 177/444,177/444 197659160 3399,9607 2203 4300 6503 SO:0001583 missense AL136889 CCDS3331.1 3q29 2014-07-18 ENSG00000114473 ENSG00000114473 84223 25251 protein-coding gene gene with protein product dynein regulatory complex subunit 9 612477 NA 11230166, 23427265, 24362311 Standard NM_032263 NM_032263 NA Approved DKFZp434B227, DRC9, CFAP122 uc003fyo.3 Q9H095 OTTHUMG00000155408 ENST00000265239.6:c.529G>C chr3.hg19:g.197659160C>G ENSP00000265239:p.Asp177His NA Q9BST2|Q9HAG8 hg19 CCDS3331.1 0.02 24.655923 CATxGCT COVERED 554 0.25366300366300365 256 0.5203252032520326 51 0.1408839779005525 120 0.2097902097902098 127 0.16754617414248021 C 12.96 2.093755 0.36952 0.447118 0.166163 ENSG00000114473 ENST00000265239;ENST00000455191;ENST00000453254;ENST00000416896 T;T;T;T 0.55930 0.74;0.74;0.77;0.49 4.81 2.88 0.33553 . 0.205977 0.38837 N 0.001547 T 0.00012 0.0000 M 0.75264 2.295 0.27204 P 0.9600887 D;D 0.89917 1.0;0.999 D;D 0.70935 0.971;0.948 T 0.47381 -0.9122 9 0.59425 D 0.04 -14.1493 7.1513 0.25612 0.0:0.7581:0.0:0.2419 . 177;177 C9JKX8;Q9H095 .;IQCG_HUMAN H 177;177;177;158 ENSP00000265239:D177H;ENSP00000407736:D177H;ENSP00000389897:D177H;ENSP00000406411:D158H ENSP00000265239:D177H D - 1 0 IQCG 199143557 0.961000 0.32948 0.987000 0.45799 0.493000 0.33554 1.099000 0.31013 1.073000 0.40885 0.460000 0.39030 GAT NOVEL IQCG-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000339730.1 1 19.56157 KEEP 0 0 0 65 2181 CC 1 1 0 - 18 60 689 0 0 43.797469 485 60 16338 675 ENST00000265239.6 0.035785 1 IQCG 84223 __UNKNOWN__ __UNKNOWN__ 3 197664916 197664916 __UNKNOWN__ Intron SNP G G T rs147447367 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:197664916G>T ENST00000265239.6 - 5 940 IQCG_ENST00000455191.1_Intron|IQCG_ENST00000453254.1_Intron NM_032263.3 NP_115639.1 Q9H095 IQCG_HUMAN IQ motif containing G NA NA extracellular vesicular exosome (GO:0070062) autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.149) gccgggcgcggtggctcacgc 0.453 NA G||| 244 0.048722 0.0424 0.0202 5008 , , NA 13322 0.0486 NA 0.0507 False NA ,,, NA NA NA 2504 0.0757 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL136889 CCDS3331.1 3q29 2014-07-18 ENSG00000114473 ENSG00000114473 84223 25251 protein-coding gene gene with protein product dynein regulatory complex subunit 9 612477 NA 11230166, 23427265, 24362311 Standard NM_032263 NM_032263 NA Approved DKFZp434B227, DRC9, CFAP122 uc003fyo.3 Q9H095 OTTHUMG00000155408 ENST00000265239.6:c.515+502C>A chr3.hg19:g.197664916G>T NA Q9BST2|Q9HAG8 hg19 CCDS3331.1 0.02 -0.043867 GCGxTGG UNCOVERED NOVEL IQCG-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000339730.1 1 3.61177 KEEP 2 0 0 12 424 GG 0.992708 0.023898 0 - 3 60 113 0 0 11.269818 2 60 77 22 ENST00000265239.6 0.6 0.024074 IQCG 84223 __UNKNOWN__ __UNKNOWN__ 3 197665599 197665599 __UNKNOWN__ Missense_Mutation SNP G G T rs9880989 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:197665599G>T ENST00000265239.6 - 5 759 c.335C>A c.(334-336)gCc>gAc p.A112D IQCG_ENST00000455191.1_Missense_Mutation_p.A112D|IQCG_ENST00000480302.1_5'UTR|IQCG_ENST00000453254.1_Missense_Mutation_p.A112D NM_032263.3 NP_115639.1 Q9H095 IQCG_HUMAN IQ motif containing G 112 NA A -> D (in dbSNP:rs9880989). {ECO:0000269|PubMed:15489334}. extracellular vesicular exosome (GO:0070062) autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.149) GATTGTTGAGGCCATTGGAAG 0.363 NA G||| 1411 0.281749 0.5197 0.1715 5008 , , NA 19781 0.2302 NA 0.166 False NA ,,, NA NA NA 2504 0.2106 NA NA NA NA 0 G ASP/ALA,ASP/ALA 1969,2437 556.0+/-379.4 417,1135,651 234 252 246 335,335 -6.9 0 3 dbSNP_119 246 1428,7172 275.3+/-291.7 117,1194,2989 yes missense,missense IQCG NM_001134435.1,NM_032263.3 126,126 534,2329,3640 TT,TG,GG 16.6047,44.6891,26.1187 benign,benign 112/444,112/444 197665599 3397,9609 2203 4300 6503 SO:0001583 missense AL136889 CCDS3331.1 3q29 2014-07-18 ENSG00000114473 ENSG00000114473 84223 25251 protein-coding gene gene with protein product dynein regulatory complex subunit 9 612477 NA 11230166, 23427265, 24362311 Standard NM_032263 NM_032263 NA Approved DKFZp434B227, DRC9, CFAP122 uc003fyo.3 Q9H095 OTTHUMG00000155408 ENST00000265239.6:c.335C>A chr3.hg19:g.197665599G>T ENSP00000265239:p.Ala112Asp NA Q9BST2|Q9HAG8 hg19 CCDS3331.1 0.02 12.93353 GAGxCCA COVERED 554 0.25366300366300365 255 0.5182926829268293 51 0.1408839779005525 121 0.21153846153846154 127 0.16754617414248021 G 7.330 0.618799 0.14129 0.446891 0.166047 ENSG00000114473 ENST00000265239;ENST00000455191;ENST00000453254;ENST00000416896 T;T;T;T 0.44083 0.93;0.93;1.0;0.95 5.14 -6.87 0.01671 . 3.994100 0.00465 N 0.000112 T 0.00012 0.0000 L 0.45581 1.43 0.80722 P 0.0 B;P 0.36959 0.302;0.575 B;B 0.29353 0.101;0.093 T 0.39375 -0.9617 9 0.12103 T 0.63 2.991 5.5736 0.17210 0.1712:0.133:0.5647:0.1311 rs9880989;rs52808997;rs60834300;rs9880989 112;112 C9JKX8;Q9H095 .;IQCG_HUMAN D 112;112;112;93 ENSP00000265239:A112D;ENSP00000407736:A112D;ENSP00000389897:A112D;ENSP00000406411:A93D ENSP00000265239:A112D A - 2 0 IQCG 199149996 0.000000 0.05858 0.000000 0.03702 0.049000 0.14656 -1.100000 0.03339 -0.975000 0.03546 0.558000 0.71614 GCC NOVEL IQCG-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000339730.1 3 25.254207 KEEP 0 0 0 84 2944 GG 1 1 0 - 22 60 773 0 0 52.618643 320 60 11767 522 ENST00000265239.6 0.064327 1 AC073135.3 0 __UNKNOWN__ __UNKNOWN__ 3 197838002 197838002 __UNKNOWN__ RNA SNP A A G rs9871919 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr3:197838002A>G ENST00000419104.1 + 0 361 NA NA NA TAATCAGGAAACTTTTATACA 0.378 NA a||| 1812 0.361821 0.0885 0.4712 5008 , , NA 19389 0.6458 NA 0.3429 False NA ,,, NA NA NA 2504 0.3804 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000419104.1: chr3.hg19:g.197838002A>G NA hg19 0.02 1.912532 GAAxCTT COVERED NOVEL AC073135.3-003 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000339698.1 0 4.510654 KEEP 0 0 0 15 414 AA 0.99649 0.995486 0 + 7 60 259 0 0 19.054766 70 60 2403 94 ENST00000419104.1 0.090909 0.998993 Z95704.4 0 __UNKNOWN__ __UNKNOWN__ 4 49846 49846 __UNKNOWN__ RNA SNP C C T rs4970287 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:49846C>T ENST00000596885.1 - 0 4 NA NA NA ACTCCTGGAGCTGCTCTATCT 0.423 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000596885.1: chr4.hg19:g.49846C>T NA hg19 0.02 1.728309 GAGxTGC COVERED NOVEL Z95704.4-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000462162.1 1 6.01995 KEEP 0 0 0 20 734 CC 0.999863 0.999811 0 - 6 60 213 0 0 14.363842 92 60 3522 145 ENST00000596885.1 0.061224 0.999948 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 53146 53146 __UNKNOWN__ IGR SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:53146C>T NA NA Z95704.4 (3296 upstream) : ZNF595 (32 downstream) NA NA NA ATCAGAGTGTCGGAATGAGAA 0.572 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.53146C>T NA hg19 0.02 15.01172 TGTxGGA COVERED NOVEL 0 4 2.239709 KEEP 0 4 112 47 1530 CC 1 1 0 35 60 1231 0 0 88.8387 351 60 12761 472 0.090674 1 ZNF595 152687 __UNKNOWN__ __UNKNOWN__ 4 53310 53310 __UNKNOWN__ 5'UTR SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:53310C>T ENST00000509152.2 + 0 113 ZNF595_ENST00000526473.2_5'UTR|ZNF595_ENST00000339368.6_3'UTR Q8IYB9 ZN595_HUMAN zinc finger protein 595 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2) 20 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173) CAGCCTCTGCCTCCCGTTGCT 0.607 NA NA NA NA NA NA NA NA NA NA NA 0 130 107 114 NA NA 4 NA 53310 692 1591 2283 SO:0001623 5_prime_UTR_variant BX537887 CCDS75075.1, CCDS75076.1, CCDS75077.1 4p16.3 2013-01-08 ENSG00000272602 152687 Zinc fingers, C2H2-type, - 27196 protein-coding gene gene with protein product NA 12477932 Standard NM_182524 NM_182524 NA Approved FLJ31740 Q8IYB9 ENST00000509152.2:c.-73C>T chr4.hg19:g.53310C>T NA hg19 0.02 39.981343 TGCxTCC COVERED NOVEL ZNF595-004 PUTATIVE basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000357817.2 5 33.691877 KEEP 0 28 902 428 15296 CC 1 1 0 + 82 60 2965 0 0 217.682485 797 60 29490 1659 ENST00000509152.2 0.093288 1 ZNF595 152687 __UNKNOWN__ __UNKNOWN__ 4 59566 59566 __UNKNOWN__ Intron SNP C C A rs6856925 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:59566C>A ENST00000509152.2 + 2 315 ZNF595_ENST00000526473.2_Intron|ZNF595_ENST00000339368.6_Intron Q8IYB9 ZN595_HUMAN zinc finger protein 595 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2) 20 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173) TGCCTTTCTACAAGAAAAAAA 0.333 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BX537887 CCDS75075.1, CCDS75076.1, CCDS75077.1 4p16.3 2013-01-08 ENSG00000272602 152687 Zinc fingers, C2H2-type, - 27196 protein-coding gene gene with protein product NA 12477932 Standard NM_182524 NM_182524 NA Approved FLJ31740 Q8IYB9 ENST00000509152.2:c.130+117C>A chr4.hg19:g.59566C>A NA hg19 0.02 18.876373 CTAxAAG COVERED NOVEL ZNF595-004 PUTATIVE basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000357817.2 3 6.922459 KEEP 0 0 0 23 800 CC 0.999892 0.999892 0 + 45 60 1581 0 0 114.230758 447 60 16906 521 ENST00000509152.2 0.091463 1 ZNF595 152687 __UNKNOWN__ __UNKNOWN__ 4 59571 59571 __UNKNOWN__ Intron SNP A A T rs6835149 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:59571A>T ENST00000509152.2 + 2 315 ZNF595_ENST00000526473.2_Intron|ZNF595_ENST00000339368.6_Intron Q8IYB9 ZN595_HUMAN zinc finger protein 595 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2) 20 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173) TTCTACAAGAAAAAAATTGGG 0.338 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BX537887 CCDS75075.1, CCDS75076.1, CCDS75077.1 4p16.3 2013-01-08 ENSG00000272602 152687 Zinc fingers, C2H2-type, - 27196 protein-coding gene gene with protein product NA 12477932 Standard NM_182524 NM_182524 NA Approved FLJ31740 Q8IYB9 ENST00000509152.2:c.130+122A>T chr4.hg19:g.59571A>T NA hg19 0.02 19.027638 AGAxAAA COVERED NOVEL ZNF595-004 PUTATIVE basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000357817.2 2 5.711748 KEEP 0 0 0 19 518 AA 0.99986 0.99986 0 + 42 60 1444 0 0 103.795693 410 60 14438 474 ENST00000509152.2 0.09292 1 ZNF595 152687 __UNKNOWN__ __UNKNOWN__ 4 60303 60303 __UNKNOWN__ Intron SNP G G A rs3864127 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:60303G>A ENST00000509152.2 + 3 411 ZNF595_ENST00000339368.6_Intron Q8IYB9 ZN595_HUMAN zinc finger protein 595 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2) 20 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173) ATAATGGGCTGCATAATCTGA 0.343 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BX537887 CCDS75075.1, CCDS75076.1, CCDS75077.1 4p16.3 2013-01-08 ENSG00000272602 152687 Zinc fingers, C2H2-type, - 27196 protein-coding gene gene with protein product NA 12477932 Standard NM_182524 NM_182524 NA Approved FLJ31740 Q8IYB9 ENST00000509152.2:c.226+257G>A chr4.hg19:g.60303G>A NA hg19 0.02 19.675221 GCTxCAT COVERED NOVEL ZNF595-004 PUTATIVE basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000357817.2 4 12.644824 KEEP 0 3 91 74 2640 GG 1 1 0 + 18 60 638 1 0 39.234406 454 60 17427 730 ENST00000509152.2 0.038136 1 ZNF595 152687 __UNKNOWN__ __UNKNOWN__ 4 64919 64919 __UNKNOWN__ Intron SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:64919C>T ENST00000509152.2 + 4 411 ZNF595_ENST00000339368.6_Intron Q8IYB9 ZN595_HUMAN zinc finger protein 595 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2) 20 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173) atctgcaggcctgcctccagg 0.547 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BX537887 CCDS75075.1, CCDS75076.1, CCDS75077.1 4p16.3 2013-01-08 ENSG00000272602 152687 Zinc fingers, C2H2-type, - 27196 protein-coding gene gene with protein product NA 12477932 Standard NM_182524 NM_182524 NA Approved FLJ31740 Q8IYB9 ENST00000509152.2:c.227-2813C>T chr4.hg19:g.64919C>T NA hg19 0.02 21.0268 GGCxTGC COVERED NOVEL ZNF595-004 PUTATIVE basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000357817.2 3 2.416775 KEEP 0 6 188 74 2618 CC 1 1 0 + 44 60 1614 0 0 119.354449 417 60 15716 665 ENST00000509152.2 0.095445 1 ZNF595 152687 __UNKNOWN__ __UNKNOWN__ 4 65108 65108 __UNKNOWN__ Intron SNP G G A rs77210260 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:65108G>A ENST00000509152.2 + 4 411 Z95704.1_ENST00000384911.1_RNA|ZNF595_ENST00000339368.6_Intron Q8IYB9 ZN595_HUMAN zinc finger protein 595 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2) 20 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173) ggccacctgggtgagggcctg 0.498 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BX537887 CCDS75075.1, CCDS75076.1, CCDS75077.1 4p16.3 2013-01-08 ENSG00000272602 152687 Zinc fingers, C2H2-type, - 27196 protein-coding gene gene with protein product NA 12477932 Standard NM_182524 NM_182524 NA Approved FLJ31740 Q8IYB9 ENST00000509152.2:c.227-2624G>A chr4.hg19:g.65108G>A NA hg19 0.02 1.9366 TGGxTGA COVERED NOVEL ZNF595-004 PUTATIVE basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000357817.2 0 3.006692 KEEP 0 0 0 10 320 GG 0.992708 0.992648 0 + 8 60 281 0 0 19.925858 89 60 3283 113 ENST00000509152.2 0.082474 0.99994 ZNF595 152687 __UNKNOWN__ __UNKNOWN__ 4 67857 67857 __UNKNOWN__ 3'UTR SNP C C A rs6599364 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:67857C>A ENST00000509152.2 + 0 537 ZNF595_ENST00000339368.6_Intron Q8IYB9 ZN595_HUMAN zinc finger protein 595 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2) 20 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173) ctcccatgttcacaccattgt 0.493 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BX537887 CCDS75075.1, CCDS75076.1, CCDS75077.1 4p16.3 2013-01-08 ENSG00000272602 152687 Zinc fingers, C2H2-type, - 27196 protein-coding gene gene with protein product NA 12477932 Standard NM_182524 NM_182524 NA Approved FLJ31740 Q8IYB9 ENST00000509152.2:c.*94C>A chr4.hg19:g.67857C>A NA hg19 0.02 15.665005 GTTxACA COVERED NOVEL ZNF595-004 PUTATIVE basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000357817.2 6 7.818455 KEEP 0 5 121 69 2356 CC 1 1 0 + 48 70 1660 0 0 123.272556 388 70 14189 555 ENST00000509152.2 0.110092 1 ZNF595 152687 __UNKNOWN__ __UNKNOWN__ 4 67922 67922 __UNKNOWN__ 3'UTR SNP C C G rs6827702 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:67922C>G ENST00000509152.2 + 0 602 ZNF595_ENST00000339368.6_Intron Q8IYB9 ZN595_HUMAN zinc finger protein 595 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2) 20 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173) ccacgcccggctaattttttg 0.547 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BX537887 CCDS75075.1, CCDS75076.1, CCDS75077.1 4p16.3 2013-01-08 ENSG00000272602 152687 Zinc fingers, C2H2-type, - 27196 protein-coding gene gene with protein product NA 12477932 Standard NM_182524 NM_182524 NA Approved FLJ31740 Q8IYB9 ENST00000509152.2:c.*159C>G chr4.hg19:g.67922C>G NA hg19 0.02 11.76725 CGGxTAA COVERED NOVEL ZNF595-004 PUTATIVE basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000357817.2 3 3.376797 KEEP 0 2 71 36 1230 CC 1 1 0 + 34 60 1248 0 0 95.354116 259 60 9500 338 ENST00000509152.2 0.116041 1 ZNF595 152687 __UNKNOWN__ __UNKNOWN__ 4 68008 68008 __UNKNOWN__ 3'UTR SNP C C T rs4970090 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:68008C>T ENST00000509152.2 + 0 688 ZNF595_ENST00000339368.6_Intron Q8IYB9 ZN595_HUMAN zinc finger protein 595 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2) 20 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173) ccgcccatttcggcctcccga 0.507 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BX537887 CCDS75075.1, CCDS75076.1, CCDS75077.1 4p16.3 2013-01-08 ENSG00000272602 152687 Zinc fingers, C2H2-type, - 27196 protein-coding gene gene with protein product NA 12477932 Standard NM_182524 NM_182524 NA Approved FLJ31740 Q8IYB9 ENST00000509152.2:c.*245C>T chr4.hg19:g.68008C>T NA hg19 0.02 22.167238 TTTxGGC COVERED NOVEL ZNF595-004 PUTATIVE basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000357817.2 6 13.04458 KEEP 0 6 175 105 3496 CC 1 1 0 + 58 60 2120 0 0 162.798896 423 60 15583 652 ENST00000509152.2 0.120582 1 ZNF595 152687 __UNKNOWN__ __UNKNOWN__ 4 68079 68079 __UNKNOWN__ 3'UTR SNP C C A rs6599365 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:68079C>A ENST00000509152.2 + 0 759 ZNF595_ENST00000339368.6_Intron Q8IYB9 ZN595_HUMAN zinc finger protein 595 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2) 20 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173) TATGTTAATGCGAAATATGCA 0.522 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BX537887 CCDS75075.1, CCDS75076.1, CCDS75077.1 4p16.3 2013-01-08 ENSG00000272602 152687 Zinc fingers, C2H2-type, - 27196 protein-coding gene gene with protein product NA 12477932 Standard NM_182524 NM_182524 NA Approved FLJ31740 Q8IYB9 ENST00000509152.2:c.*316C>A chr4.hg19:g.68079C>A NA hg19 0.02 37.747897 ATGxGAA COVERED NOVEL ZNF595-004 PUTATIVE basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000357817.2 18 4.851125 KEEP 0 16 516 197 6850 CC 1 1 0 + 63 60 2325 0 0 165.081747 787 60 28270 1323 ENST00000509152.2 0.074118 1 ZNF595 152687 __UNKNOWN__ __UNKNOWN__ 4 68144 68144 __UNKNOWN__ 3'UTR SNP G G A rs61792212 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:68144G>A ENST00000509152.2 + 0 824 ZNF595_ENST00000339368.6_Intron Q8IYB9 ZN595_HUMAN zinc finger protein 595 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2) 20 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173) GTCAGAGGAGGCACGTCAGGG 0.463 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BX537887 CCDS75075.1, CCDS75076.1, CCDS75077.1 4p16.3 2013-01-08 ENSG00000272602 152687 Zinc fingers, C2H2-type, - 27196 protein-coding gene gene with protein product NA 12477932 Standard NM_182524 NM_182524 NA Approved FLJ31740 Q8IYB9 ENST00000509152.2:c.*381G>A chr4.hg19:g.68144G>A NA hg19 0.02 33.592063 GAGxCAC COVERED NOVEL ZNF595-004 PUTATIVE basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000357817.2 2 19.340418 KEEP 0 8 250 152 5400 GG 1 1 0 + 55 60 1970 0 0 137.345041 712 70 26608 1122 ENST00000509152.2 0.071708 1 ZNF595 152687 __UNKNOWN__ __UNKNOWN__ 4 68199 68199 __UNKNOWN__ 3'UTR SNP T T A rs6599366|rs386670354 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:68199T>A ENST00000509152.2 + 0 879 ZNF595_ENST00000339368.6_Intron Q8IYB9 ZN595_HUMAN zinc finger protein 595 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2) 20 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173) GACAGGAATGTGGACATATAT 0.488 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BX537887 CCDS75075.1, CCDS75076.1, CCDS75077.1 4p16.3 2013-01-08 ENSG00000272602 152687 Zinc fingers, C2H2-type, - 27196 protein-coding gene gene with protein product NA 12477932 Standard NM_182524 NM_182524 NA Approved FLJ31740 Q8IYB9 ENST00000509152.2:c.*436T>A chr4.hg19:g.68199T>A NA hg19 0.02 25.879086 ATGxGGA COVERED NOVEL ZNF595-004 PUTATIVE basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000357817.2 0 15.580839 KEEP 0 1 32 63 1982 TT 1 1 0 + 47 60 1752 0 0 126.459967 542 60 19547 712 ENST00000509152.2 0.079796 1 ZNF141 7700 __UNKNOWN__ __UNKNOWN__ 4 331740 331740 __UNKNOWN__ 5'UTR SNP G G T rs3749523 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:331740G>T ENST00000240499.7 + 0 117 ZNF141_ENST00000505939.1_5'UTR|ZNF141_ENST00000512994.1_5'UTR NM_003441.2 NP_003432.1 Q15928 ZN141_HUMAN zinc finger protein 141 NA NA anatomical structure morphogenesis (GO:0009653)|limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1) 18 ATGATTGGTAGCTAAGACTCC 0.587 NA g||| 1125 0.224641 0.4713 0.1196 5008 , , NA 16034 0.1319 NA 0.1541 False NA ,,, NA NA NA 2504 0.1339 NA NA NA NA 0 G 1836,2570 535.1+/-374.1 404,1028,771 71 77 75 0.5 0 4 dbSNP_107 75 1177,7423 239.4+/-270.5 83,1011,3206 no utr-5 ZNF141 NM_003441.2 487,2039,3977 TT,TG,GG 13.686,41.6704,23.1662 331740 3013,9993 2203 4300 6503 SO:0001623 5_prime_UTR_variant L15309 CCDS33931.1 4p16.3 2013-01-08 2006-06-13 ENSG00000131127 7700 Zinc fingers, C2H2-type, - 12926 protein-coding gene gene with protein product 194648 zinc finger protein 141 (clone pHZ-44) D4S90 NA 8268908 Standard NM_003441 NM_003441 NA Approved pHZ-44 uc003gaa.2 Q15928 ENST00000240499.7:c.-33G>T chr4.hg19:g.331740G>T NA Q6DK07 hg19 CCDS33931.1 0.02 13.61395 GTAxCTA COVERED NOVEL ZNF141-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000357710.1 3 75.785247 KEEP 0 1 35 264 9640 GG 1 1 0 + 11 70 389 0 0 22.600899 364 70 13716 839 ENST00000240499.7 0.029333 1 ZNF141 7700 __UNKNOWN__ __UNKNOWN__ 4 377183 377183 __UNKNOWN__ 3'UTR SNP C C T rs59557843 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:377183C>T ENST00000505939.1 + 0 676 ZNF141_ENST00000512994.1_3'UTR Q15928 ZN141_HUMAN zinc finger protein 141 NA NA anatomical structure morphogenesis (GO:0009653)|limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1) 18 ACAGATTGATCACAAATAACC 0.338 NA T||| 1099 0.219449 0.3873 0.1009 5008 , , NA 19703 0.1379 NA 0.1421 False NA ,,, NA NA NA 2504 0.2403 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L15309 CCDS33931.1 4p16.3 2013-01-08 2006-06-13 ENSG00000131127 7700 Zinc fingers, C2H2-type, - 12926 protein-coding gene gene with protein product 194648 zinc finger protein 141 (clone pHZ-44) D4S90 NA 8268908 Standard NM_003441 NM_003441 NA Approved pHZ-44 uc003gaa.2 Q15928 ENST00000505939.1:c.*184C>T chr4.hg19:g.377183C>T NA Q6DK07 hg19 0.02 23.929335 GATxACA COVERED NOVEL ZNF141-005 PUTATIVE basic protein_coding NA protein_coding OTTHUMT00000357714.1 9 21.673989 KEEP 0 3 91 104 3687 CC 1 1 0 + 28 60 1025 0 0 66.821851 568 60 21848 905 ENST00000505939.1 0.04698 1 ZNF721 170960 __UNKNOWN__ __UNKNOWN__ 4 420664 420664 __UNKNOWN__ 3'UTR SNP G G T rs1053401 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:420664G>T ENST00000506646.1 - 0 848 ABCA11P_ENST00000451020.2_RNA Q8TF20 ZN721_HUMAN zinc finger protein 721 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1) 33 ATCTTCTTCAGGCTCTTCTGG 0.423 NA G||| 874 0.174521 0.3495 0.0865 5008 , , NA 19242 0.1151 NA 0.1064 False NA ,,, NA NA NA 2504 0.1319 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK092362 CCDS46991.1 4p16.3 2013-01-08 ENSG00000182903 ENSG00000182903 170960 Zinc fingers, C2H2-type, - 29425 protein-coding gene gene with protein product NA 11853319 Standard NM_133474 NM_133474 NA Approved KIAA1982 uc003gag.4 Q8TF20 ENST00000506646.1:c.*291C>A chr4.hg19:g.420664G>T NA Q69YG7 hg19 0.02 10.017513 TCAxGCT COVERED NOVEL ZNF721-003 PUTATIVE basic protein_coding NA protein_coding OTTHUMT00000357869.2 1 18.359218 KEEP 0 0 0 61 2171 GG 1 1 0 - 9 60 322 0 0 18.978448 289 60 10833 430 ENST00000506646.1 0.030201 1 ZNF721 170960 __UNKNOWN__ __UNKNOWN__ 4 437831 437831 __UNKNOWN__ Missense_Mutation SNP C C T rs72501950 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:437831C>T ENST00000511833.2 - 3 618 c.425G>A c.(424-426)cGt>cAt p.R142H ZNF721_ENST00000338977.5_Missense_Mutation_p.R130H|ZNF721_ENST00000506646.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000507078.1_Intron NM_133474.3 NP_597731.2 Q8TF20 ZN721_HUMAN zinc finger protein 721 130 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1) 33 GTCTTTGCCACGTTCTTCACA 0.383 NA C||| 818 0.163339 0.3101 0.085 5008 , , NA 21420 0.1141 NA 0.1064 False NA ,,, NA NA NA 2504 0.1299 NA NA NA NA 0 C HIS/ARG 1122,3152 143,836,1158 160 172 168 425 -0.7 0 4 dbSNP_130 168 828,7716 45,738,3489 no missense ZNF721 NM_133474.2 29 188,1574,4647 TT,TC,CC 9.691,26.2518,15.213 possibly-damaging 142/924 437831 1950,10868 2137 4272 6409 SO:0001583 missense AK092362 CCDS46991.1 4p16.3 2013-01-08 ENSG00000182903 ENSG00000182903 170960 Zinc fingers, C2H2-type, - 29425 protein-coding gene gene with protein product NA 11853319 Standard NM_133474 NM_133474 NA Approved KIAA1982 uc003gag.4 Q8TF20 ENST00000511833.2:c.425G>A chr4.hg19:g.437831C>T ENSP00000428878:p.Arg142His NA Q69YG7 hg19 CCDS46991.1 0.02 10.731153 CCAxGTT COVERED 333 0.15247252747252749 142 0.2886178861788618 35 0.09668508287292818 81 0.14160839160839161 75 0.09894459102902374 C 14.66 2.601449 0.46423 0.262518 0.09691 ENSG00000182903 ENST00000338977;ENST00000511833 T;T 0.15017 2.46;2.46 0.723 -0.679 0.11350 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1); . . . . T 0.00012 0.0000 N 0.19112 0.55 0.53688 P 2.6999999999999247E-5 P;B;B 0.49358 0.923;0.092;0.149 B;B;B 0.35859 0.212;0.002;0.005 T 0.47535 -0.9110 8 0.59425 D 0.04 . 6.1646 0.20384 0.0:0.6815:0.3185:0.0 . 130;142;142 Q8TF20;D9N162;Q8TF20-2 ZN721_HUMAN;.;. H 130;142 ENSP00000340524:R130H;ENSP00000428878:R142H ENSP00000340524:R130H R - 2 0 ZNF721 427831 0.007000 0.16637 0.001000 0.08648 0.012000 0.07955 1.391000 0.34475 -0.280000 0.09154 0.205000 0.17691 CGT NOVEL ZNF721-009 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000357942.2 4 22.570996 KEEP 0 0 0 75 2542 CC 1 1 0 - 15 60 557 0 0 37.324036 271 60 9328 434 ENST00000511833.2 0.052448 1 PIGG 54872 __UNKNOWN__ __UNKNOWN__ 4 515489 515489 __UNKNOWN__ Missense_Mutation SNP G G A rs13115344 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:515489G>A ENST00000509768.1 + 8 1978 c.1106G>A c.(1105-1107)cGc>cAc p.R369H PIGG_ENST00000504346.1_Missense_Mutation_p.R369H|PIGG_ENST00000310340.5_Missense_Mutation_p.R450H|PIGG_ENST00000383028.4_Missense_Mutation_p.R325H|PIGG_ENST00000536264.1_Missense_Mutation_p.A321T|PIGG_ENST00000453061.2_Missense_Mutation_p.R458H|PIGG_ENST00000296306.7_Silent_p.A296A|PIGG_ENST00000503111.1_Silent_p.A296A Q5H8A4 PIGG_HUMAN phosphatidylinositol glycan anchor biosynthesis, class G 458 NA C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020) CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 39 CAGGCACTGCGCAGAAAGGCT 0.527 NA G||| 1018 0.203275 0.3775 0.0836 5008 , , NA 18123 0.2054 NA 0.1233 False NA ,,, NA NA NA 2504 0.1329 NA NA NA NA 0 G HIS/ARG,HIS/ARG 1467,2939 471.5+/-356.1 257,953,993 129 115 119 1373,1349 1.2 0 4 dbSNP_121 119 987,7613 213.4+/-253.3 65,857,3378 yes missense,missense PIGG NM_001127178.1,NM_017733.3 29,29 322,1810,4371 AA,AG,GG 11.4767,33.2955,18.8682 benign,benign 458/984,450/976 515489 2454,10552 2203 4300 6503 SO:0001583 missense CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1 4p16.3 2013-02-26 2006-06-28 ENSG00000174227 ENSG00000174227 54872 Phosphatidylinositol glycan anchor biosynthesis 25985 protein-coding gene gene with protein product phosphatidylinositol glycan, class G NA 15632136 Standard NM_017733 XM_005272287 NA Approved FLJ20265, GPI7, LAS21 uc003gak.4 Q5H8A4 OTTHUMG00000112457 ENST00000509768.1:c.1106G>A chr4.hg19:g.515489G>A ENSP00000421550:p.Arg369His NA B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5 hg19 0.02 12.903194 TGCxCAG COVERED 441|441 0.20192307692307693|0.20192307692307693 192|192 0.3902439024390244|0.3902439024390244 32|32 0.08839779005524862|0.08839779005524862 125|125 0.21853146853146854|0.21853146853146854 92|92 0.12137203166226913|0.12137203166226913 G|G 3.950|3.950 -0.012486|-0.012486 0.07727|0.07727 0.332955|0.332955 0.114767|0.114767 ENSG00000174227|ENSG00000174227 ENST00000536264|ENST00000310340;ENST00000453061;ENST00000504346;ENST00000383028;ENST00000509768 T|T;T;T;T;T 0.48201|0.45668 0.82|0.89;0.89;0.89;0.89;0.89 5.84|5.84 1.23|1.23 0.21249|0.21249 .|. .|0.604056 .|0.19979 .|N .|0.101811 T|T 0.00012|0.00012 0.0000|0.0000 N|N 0.08118|0.08118 0|0 0.80722|0.80722 P|P 0.0|0.0 B|B;B;B;B 0.09022|0.06786 0.002|0.0;0.001;0.0;0.0 B|B;B;B;B 0.04013|0.04013 0.001|0.001;0.001;0.001;0.001 T|T 0.46693|0.46693 -0.9173|-0.9173 8|9 0.20046|0.15499 T|T 0.44|0.54 .|. 12.2719|12.2719 0.54710|0.54710 0.2253:0.0:0.7747:0.0|0.2253:0.0:0.7747:0.0 rs13115344;rs61447247;rs13115344|rs13115344;rs61447247;rs13115344 321|325;369;458;450 B4DKC7|Q5H8A4-3;D6RFE8;Q5H8A4;Q5H8A4-2 .|.;.;PIGG_HUMAN;. T|H 321|450;458;369;325;369 ENSP00000439240:A321T|ENSP00000311750:R450H;ENSP00000415203:R458H;ENSP00000424800:R369H;ENSP00000372494:R325H;ENSP00000421550:R369H ENSP00000424619:A443T|ENSP00000311750:R450H A|R +|+ 1|2 0|0 PIGG|PIGG 505489|505489 1.000000|1.000000 0.71417|0.71417 0.000000|0.000000 0.03702|0.03702 0.041000|0.041000 0.13682|0.13682 3.854000|3.854000 0.55949|0.55949 -0.081000|-0.081000 0.12662|0.12662 -1.166000|-1.166000 0.01754|0.01754 GCA|CGC NOVEL PIGG-006 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000357497.1 0 10.230768 KEEP 0 0 0 34 1106 GG 0.999998 0.999998 0 + 17 60 617 0 0 40.406976 328 60 10829 422 ENST00000509768.1 0.049275 1 PIGG 54872 __UNKNOWN__ __UNKNOWN__ 4 515844 515844 __UNKNOWN__ 3'UTR SNP C C A rs13136656 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:515844C>A ENST00000509768.1 + 0 2333 PIGG_ENST00000504346.1_Intron|PIGG_ENST00000310340.5_Intron|PIGG_ENST00000383028.4_Intron|PIGG_ENST00000453061.2_Intron|PIGG_ENST00000296306.7_Intron|PIGG_ENST00000503111.1_3'UTR Q5H8A4 PIGG_HUMAN phosphatidylinositol glycan anchor biosynthesis, class G NA NA C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020) CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 39 GTGTGTGCCACGTGCTGGCAG 0.572 NA A||| 911 0.181909 0.3147 0.0821 5008 , , NA 20337 0.2063 NA 0.1143 False NA ,,, NA NA NA 2504 0.1176 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1 4p16.3 2013-02-26 2006-06-28 ENSG00000174227 ENSG00000174227 54872 Phosphatidylinositol glycan anchor biosynthesis 25985 protein-coding gene gene with protein product phosphatidylinositol glycan, class G NA 15632136 Standard NM_017733 XM_005272287 NA Approved FLJ20265, GPI7, LAS21 uc003gak.4 Q5H8A4 OTTHUMG00000112457 ENST00000509768.1:c.*18C>A chr4.hg19:g.515844C>A NA B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5 hg19 0.02 13.352141 CCAxGTG COVERED NOVEL PIGG-006 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000357497.1 0 5.415904 KEEP 0 0 0 18 578 CC 0.999859 0.999859 0 + 14 60 512 0 0 33.239579 290 60 9659 350 ENST00000509768.1 0.046053 1 PIGG 54872 __UNKNOWN__ __UNKNOWN__ 4 516586 516586 __UNKNOWN__ 3'UTR SNP G G A rs1135945 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:516586G>A ENST00000509768.1 + 0 3075 PIGG_ENST00000504346.1_Intron|PIGG_ENST00000310340.5_Intron|PIGG_ENST00000383028.4_Intron|PIGG_ENST00000453061.2_Intron|PIGG_ENST00000296306.7_Intron|PIGG_ENST00000503111.1_3'UTR Q5H8A4 PIGG_HUMAN phosphatidylinositol glycan anchor biosynthesis, class G NA NA C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020) CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 39 CTAGCTGCACGCAGTATGTAG 0.453 NA G||| 1188 0.23722 0.3608 0.1311 5008 , , NA 20813 0.2212 NA 0.2087 False NA ,,, NA NA NA 2504 0.1912 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1 4p16.3 2013-02-26 2006-06-28 ENSG00000174227 ENSG00000174227 54872 Phosphatidylinositol glycan anchor biosynthesis 25985 protein-coding gene gene with protein product phosphatidylinositol glycan, class G NA 15632136 Standard NM_017733 XM_005272287 NA Approved FLJ20265, GPI7, LAS21 uc003gak.4 Q5H8A4 OTTHUMG00000112457 ENST00000509768.1:c.*760G>A chr4.hg19:g.516586G>A NA B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5 hg19 0.02 3.992382 CACxCAG COVERED NOVEL PIGG-006 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000357497.1 1 4.815498 KEEP 0 0 0 16 562 GG 0.997832 0.997831 0 + 6 60 214 0 0 13.609363 129 60 4688 183 ENST00000509768.1 0.044444 1 PIGG 54872 __UNKNOWN__ __UNKNOWN__ 4 517198 517198 __UNKNOWN__ Intron SNP G G A rs7678962 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:517198G>A ENST00000310340.5 + 9 1705 PIGG_ENST00000504346.1_Intron|PIGG_ENST00000383028.4_Intron|PIGG_ENST00000453061.2_Intron|PIGG_ENST00000296306.7_Intron NM_017733.3 NP_060203.3 Q5H8A4 PIGG_HUMAN phosphatidylinositol glycan anchor biosynthesis, class G NA NA C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020) CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 39 GCAGCAAGATGTGTGTCGTTA 0.517 NA G||| 1123 0.224241 0.3956 0.0994 5008 , , NA 21400 0.2202 NA 0.1312 False NA ,,, NA NA NA 2504 0.181 NA NA NA NA 0 G , 1502,2904 459.4+/-352.3 268,966,969 143 141 141 , -4.9 0 4 dbSNP_116 141 1046,7554 212.9+/-253.1 67,912,3321 no intron,intron PIGG NM_001127178.1,NM_017733.3 , 335,1878,4290 AA,AG,GG 12.1628,34.0899,19.591 , , 517198 2548,10458 2203 4300 6503 SO:0001627 intron_variant CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1 4p16.3 2013-02-26 2006-06-28 ENSG00000174227 ENSG00000174227 54872 Phosphatidylinositol glycan anchor biosynthesis 25985 protein-coding gene gene with protein product phosphatidylinositol glycan, class G NA 15632136 Standard NM_017733 XM_005272287 NA Approved FLJ20265, GPI7, LAS21 uc003gak.4 Q5H8A4 OTTHUMG00000112457 ENST00000310340.5:c.1591-50G>A chr4.hg19:g.517198G>A NA B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5 hg19 CCDS3336.1 0.02 4.200085 GATxTGT COVERED NOVEL PIGG-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000231928.2 1 6.01966 KEEP 0 0 0 20 720 GG 0.999863 0.999863 0 + 5 60 180 0 0 11.119724 129 60 4941 187 ENST00000310340.5 0.037313 1 PIGG 54872 __UNKNOWN__ __UNKNOWN__ 4 517376 517376 __UNKNOWN__ Silent SNP T T C rs7666226 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:517376T>C ENST00000310340.5 + 9 1834 c.1719T>C c.(1717-1719)ctT>ctC p.L573L PIGG_ENST00000504346.1_Silent_p.L492L|PIGG_ENST00000383028.4_Silent_p.L448L|PIGG_ENST00000453061.2_Silent_p.L581L|PIGG_ENST00000296306.7_3'UTR NM_017733.3 NP_060203.3 Q5H8A4 PIGG_HUMAN phosphatidylinositol glycan anchor biosynthesis, class G 581 NA C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020) CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 39 GGTACTTCCTTGTGAACACCC 0.572 NA C||| 1123 0.224241 0.3956 0.0994 5008 , , NA 19532 0.2202 NA 0.1312 False NA ,,, NA NA NA 2504 0.181 NA NA NA NA 0 C , 1505,2901 676.4+/-403.2 271,963,969 140 135 137 1743,1719 -11.3 0 4 dbSNP_116 137 1050,7550 771.1+/-407.7 69,912,3319 no coding-synonymous,coding-synonymous PIGG NM_001127178.1,NM_017733.3 , 340,1875,4288 CC,CT,TT 12.2093,34.158,19.6448 , 581/984,573/976 517376 2555,10451 2203 4300 6503 SO:0001819 synonymous_variant CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1 4p16.3 2013-02-26 2006-06-28 ENSG00000174227 ENSG00000174227 54872 Phosphatidylinositol glycan anchor biosynthesis 25985 protein-coding gene gene with protein product phosphatidylinositol glycan, class G NA 15632136 Standard NM_017733 XM_005272287 NA Approved FLJ20265, GPI7, LAS21 uc003gak.4 Q5H8A4 OTTHUMG00000112457 ENST00000310340.5:c.1719T>C chr4.hg19:g.517376T>C NA B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5 hg19 CCDS3336.1 0.02 10.322734 CCTxGTG COVERED NOVEL PIGG-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000231928.2 1 11.433962 KEEP 0 0 0 38 1196 TT 1 1 0 + 13 60 432 0 0 26.446649 274 60 9937 402 ENST00000310340.5 0.045296 1 PIGG 54872 __UNKNOWN__ __UNKNOWN__ 4 517622 517622 __UNKNOWN__ Silent SNP C C T rs13150531 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:517622C>T ENST00000310340.5 + 9 2080 c.1965C>T c.(1963-1965)gcC>gcT p.A655A PIGG_ENST00000504346.1_Silent_p.A574A|PIGG_ENST00000383028.4_Silent_p.A530A|PIGG_ENST00000453061.2_Silent_p.A663A|PIGG_ENST00000296306.7_3'UTR NM_017733.3 NP_060203.3 Q5H8A4 PIGG_HUMAN phosphatidylinositol glycan anchor biosynthesis, class G 663 NA C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020) CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 39 TAATACTGGCCTGCTGCCGGC 0.652 NA C||| 1123 0.224241 0.3964 0.0994 5008 , , NA 16572 0.2202 NA 0.1302 False NA ,,, NA NA NA 2504 0.181 NA NA NA NA 0 C , 1447,2925 254,939,993 18 17 17 1989,1965 2.8 0.7 4 dbSNP_121 17 1018,7520 65,888,3316 no coding-synonymous,coding-synonymous PIGG NM_001127178.1,NM_017733.3 , 319,1827,4309 TT,TC,CC 11.9232,33.097,19.0937 , 663/984,655/976 517622 2465,10445 2186 4269 6455 SO:0001819 synonymous_variant CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1 4p16.3 2013-02-26 2006-06-28 ENSG00000174227 ENSG00000174227 54872 Phosphatidylinositol glycan anchor biosynthesis 25985 protein-coding gene gene with protein product phosphatidylinositol glycan, class G NA 15632136 Standard NM_017733 XM_005272287 NA Approved FLJ20265, GPI7, LAS21 uc003gak.4 Q5H8A4 OTTHUMG00000112457 ENST00000310340.5:c.1965C>T chr4.hg19:g.517622C>T NA B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5 hg19 CCDS3336.1 0.02 8.66857 GGCxTGC COVERED NOVEL PIGG-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000231928.2 2 17.756601 KEEP 0 0 0 59 2093 CC 1 1 0 + 8 60 304 0 0 19.217309 217 60 8165 364 ENST00000310340.5 0.035556 1 PIGG 54872 __UNKNOWN__ __UNKNOWN__ 4 520853 520853 __UNKNOWN__ Missense_Mutation SNP G G A rs13114026 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:520853G>A ENST00000310340.5 + 10 2186 c.2071G>A c.(2071-2073)Gtc>Atc p.V691I PIGG_ENST00000504346.1_Missense_Mutation_p.V610I|PIGG_ENST00000383028.4_Missense_Mutation_p.V566I|PIGG_ENST00000453061.2_Missense_Mutation_p.V699I|PIGG_ENST00000296306.7_3'UTR NM_017733.3 NP_060203.3 Q5H8A4 PIGG_HUMAN phosphatidylinositol glycan anchor biosynthesis, class G 699 NA C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020) CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780) p.L689_A694delLSVLAA(1) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 39 CGAGCTCTCTGTCCTGGCTGC 0.552 NA G||| 893 0.178315 0.2413 0.0908 5008 , , NA 14770 0.2054 NA 0.1292 False NA ,,, NA NA NA 2504 0.1779 NA NA NA NA 1 Deletion - In frame(1) ovary(1) G ILE/VAL,ILE/VAL 1003,3403 370.8+/-319.7 117,769,1317 62 49 53 2095,2071 3.4 0 4 dbSNP_121 53 1035,7565 219.7+/-257.6 66,903,3331 yes missense,missense PIGG NM_001127178.1,NM_017733.3 29,29 183,1672,4648 AA,AG,GG 12.0349,22.7644,15.6697 benign,benign 699/984,691/976 520853 2038,10968 2203 4300 6503 SO:0001583 missense CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1 4p16.3 2013-02-26 2006-06-28 ENSG00000174227 ENSG00000174227 54872 Phosphatidylinositol glycan anchor biosynthesis 25985 protein-coding gene gene with protein product phosphatidylinositol glycan, class G NA 15632136 Standard NM_017733 XM_005272287 NA Approved FLJ20265, GPI7, LAS21 uc003gak.4 Q5H8A4 OTTHUMG00000112457 ENST00000310340.5:c.2071G>A chr4.hg19:g.520853G>A ENSP00000311750:p.Val691Ile NA B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5 hg19 CCDS3336.1 0.02 6.316361 TCTxTCC COVERED 396 0.1813186813186813 132 0.2682926829268293 37 0.10220994475138122 130 0.22727272727272727 97 0.1279683377308707 G 2.896 -0.228623 0.06022 0.227644 0.120349 ENSG00000174227 ENST00000310340;ENST00000453061;ENST00000504346;ENST00000383028 T;T;T;T 0.09255 3.32;3.33;3.0;3.0 6.06 3.39 0.38822 . 0.669240 0.16139 N 0.227810 T 0.00012 0.0000 L 0.52011 1.625 0.58432 P 1.0000000000287557E-6 B;B;B 0.30236 0.274;0.022;0.169 B;B;B 0.30401 0.115;0.01;0.086 T 0.42932 -0.9422 9 0.12766 T 0.61 -2.4778 5.1107 0.14808 0.1524:0.0:0.5552:0.2924 rs13114026;rs59899952;rs13114026 566;699;691 Q5H8A4-3;Q5H8A4;Q5H8A4-2 .;PIGG_HUMAN;. I 691;699;610;566 ENSP00000311750:V691I;ENSP00000415203:V699I;ENSP00000424800:V610I;ENSP00000372494:V566I ENSP00000311750:V691I V + 1 0 PIGG 510853 0.063000 0.20901 0.004000 0.12327 0.216000 0.24613 0.374000 0.20501 0.437000 0.26423 -0.145000 0.13849 GTC NOVEL PIGG-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000231928.2 1 19.865266 KEEP 0 0 0 66 2369 GG 1 1 0 + 7 60 250 0 0 15.765969 158 60 6018 296 ENST00000310340.5 0.042424 1 PIGG 54872 __UNKNOWN__ __UNKNOWN__ 4 527534 527534 __UNKNOWN__ Intron SNP G G A rs11931692 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:527534G>A ENST00000310340.5 + 12 2662 PIGG_ENST00000383028.4_Intron|PIGG_ENST00000504346.1_Intron|PIGG_ENST00000296306.7_Intron|PIGG_ENST00000453061.2_Intron NM_017733.3 NP_060203.3 Q5H8A4 PIGG_HUMAN phosphatidylinositol glycan anchor biosynthesis, class G NA NA C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020) CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 39 CTAACATCGTGGCTCACGCTA 0.577 NA G||| 1041 0.207867 0.3593 0.098 5008 , , NA 20013 0.2212 NA 0.1262 False NA ,,, NA NA NA 2504 0.1513 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1 4p16.3 2013-02-26 2006-06-28 ENSG00000174227 ENSG00000174227 54872 Phosphatidylinositol glycan anchor biosynthesis 25985 protein-coding gene gene with protein product phosphatidylinositol glycan, class G NA 15632136 Standard NM_017733 XM_005272287 NA Approved FLJ20265, GPI7, LAS21 uc003gak.4 Q5H8A4 OTTHUMG00000112457 ENST00000310340.5:c.2548-73G>A chr4.hg19:g.527534G>A NA B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5 hg19 CCDS3336.1 0.02 6.633781 CGTxGCT COVERED NOVEL PIGG-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000231928.2 1 7.523769 KEEP 0 0 0 25 865 GG 0.999931 0.999931 0 + 12 60 414 0 0 28.553191 151 60 5580 209 ENST00000310340.5 0.07362 1 PIGG 54872 __UNKNOWN__ __UNKNOWN__ 4 527677 527677 __UNKNOWN__ Missense_Mutation SNP T T C rs34623004 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:527677T>C ENST00000310340.5 + 12 2733 c.2618T>C c.(2617-2619)aTc>aCc p.I873T PIGG_ENST00000383028.4_Missense_Mutation_p.I748T|PIGG_ENST00000504346.1_Missense_Mutation_p.I792T|PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000453061.2_Missense_Mutation_p.I881T NM_017733.3 NP_060203.3 Q5H8A4 PIGG_HUMAN phosphatidylinositol glycan anchor biosynthesis, class G 881 NA C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020) CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780) p.I873T(1) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 39 TACGTGGAAATCCCAGCCGTG 0.582 NA T||| 1041 0.207867 0.3593 0.098 5008 , , NA 18246 0.2212 NA 0.1262 False NA ,,, NA NA NA 2504 0.1513 NA NA NA NA 1 Substitution - Missense(1) central_nervous_system(1) T THR/ILE,THR/ILE 1418,2988 462.6+/-353.3 227,964,1012 120 100 107 2642,2618 3.3 0.7 4 dbSNP_126 107 1087,7513 227.1+/-262.6 73,941,3286 yes missense,missense PIGG NM_001127178.1,NM_017733.3 89,89 300,1905,4298 CC,CT,TT 12.6395,32.1834,19.2603 benign,benign 881/984,873/976 527677 2505,10501 2203 4300 6503 SO:0001583 missense CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1 4p16.3 2013-02-26 2006-06-28 ENSG00000174227 ENSG00000174227 54872 Phosphatidylinositol glycan anchor biosynthesis 25985 protein-coding gene gene with protein product phosphatidylinositol glycan, class G NA 15632136 Standard NM_017733 XM_005272287 NA Approved FLJ20265, GPI7, LAS21 uc003gak.4 Q5H8A4 OTTHUMG00000112457 ENST00000310340.5:c.2618T>C chr4.hg19:g.527677T>C ENSP00000311750:p.Ile873Thr NA B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5 hg19 CCDS3336.1 0.02 13.40404 AAAxCCC COVERED 452 0.20695970695970695 181 0.3678861788617886 40 0.11049723756906077 139 0.243006993006993 92 0.12137203166226913 T 13.76 2.332370 0.41297 0.321834 0.126395 ENSG00000174227 ENST00000310340;ENST00000453061;ENST00000504346;ENST00000383028;ENST00000453065 T;T;T;T 0.30714 1.52;1.52;1.52;1.52 5.78 3.28 0.37604 . 0.832250 0.11531 N 0.554683 T 0.00012 0.0000 L 0.36672 1.1 0.27728 P 0.9448951 B;B;B 0.15473 0.013;0.004;0.007 B;B;B 0.14578 0.007;0.005;0.011 T 0.42682 -0.9437 9 0.31617 T 0.26 -3.3367 6.3218 0.21223 0.0:0.0893:0.1585:0.7522 rs34623004;rs58102883 748;881;873 Q5H8A4-3;Q5H8A4;Q5H8A4-2 .;PIGG_HUMAN;. T 873;881;792;748;37 ENSP00000311750:I873T;ENSP00000415203:I881T;ENSP00000424800:I792T;ENSP00000372494:I748T ENSP00000311750:I873T I + 2 0 PIGG 517677 0.623000 0.27094 0.683000 0.30040 0.922000 0.55478 2.837000 0.48191 0.505000 0.28104 0.533000 0.62120 ATC NOVEL PIGG-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000231928.2 0 19.85278 KEEP 0 0 0 66 1997 TT 1 1 0 + 14 60 502 0 0 31.89365 308 60 10716 482 ENST00000310340.5 0.043478 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 533399 533399 __UNKNOWN__ IGR SNP G G A rs7668455 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:533399G>A NA NA PIGG (81 upstream) : RP11-1263C18.1 (34269 downstream) NA NA NA AAGCTATGGTGTGACCCAAAT 0.378 NA A||| 1480 0.295527 0.6384 0.1239 5008 , , NA 16711 0.2222 NA 0.1342 False NA ,,, NA NA NA 2504 0.1953 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.533399G>A NA hg19 0.02 4.009157 GGTxTGA COVERED NOVEL 0 0 3.91273 KEEP 0 0 0 13 458 GG 0.994391 0.994391 0 8 60 297 0 0 20.386474 125 60 4735 184 0.06015 1 PDE6B 5158 __UNKNOWN__ __UNKNOWN__ 4 650193 650193 __UNKNOWN__ Intron SNP G G T rs76455781 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:650193G>T ENST00000496514.1 + 8 1128 PDE6B_ENST00000255622.6_Intron|PDE6B_ENST00000429163.2_Intron P35913 PDE6B_HUMAN phosphodiesterase 6B, cGMP-specific, rod, beta NA NA cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601) photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886) 3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872) NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1) 30 Caffeine(DB00201) CTTCAgccaggcatggtggct 0.507 NA .||| 367 0.0732827 0.0008 0.013 5008 , , NA 14355 0.2222 NA 0.0249 False NA ,,, NA NA NA 2504 0.1104 NA NA NA GBM(71;463 1194 9848 25922 46834) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC000249 CCDS33932.1, CCDS46993.1, CCDS54703.1 4p16.3 2014-01-28 2008-07-31 ENSG00000133256 ENSG00000133256 5158 3.1.4.17 Phosphodiesterases 8786 protein-coding gene gene with protein product congenital stationary night blindness 3, autosomal dominant 180072 PDEB NA 1313787 Standard NM_000283 NM_001145292 NA Approved CSNB3, rd1, RP40, CSNBAD2 uc003gap.3 P35913 OTTHUMG00000159909 ENST00000496514.1:c.1107+112G>T chr4.hg19:g.650193G>T NA B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49 hg19 CCDS33932.1 0.02 4.081708 CAGxCAT COVERED NOVEL PDE6B-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000358109.1 0 2.708787 KEEP 0 0 0 9 313 GG 0.99254 0.992514 0 + 8 60 286 0 0 20.241558 94 60 3503 114 ENST00000496514.1 0.078431 0.999973 MYL5 4636 __UNKNOWN__ __UNKNOWN__ 4 672337 672337 __UNKNOWN__ Intron SNP G G C rs550802415|rs28648652 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:672337G>C ENST00000400159.2 + 2 108 MYL5_ENST00000511290.1_Intron|MYL5_ENST00000506838.1_Intron|MYL5_ENST00000505477.1_Intron NM_002477.1 NP_002468.1 Q02045 MYL5_HUMAN myosin, light chain 5, regulatory NA NA regulation of muscle contraction (GO:0006937) muscle myosin complex (GO:0005859) calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307) endometrium(1)|kidney(1)|lung(1) 3 CCTCCAGCCCGAAGGGCTGAG 0.637 NA C||| 426 0.0850639 0.0794 0.0144 5008 , , NA 16778 0.1915 NA 0.0189 False NA ,,, NA NA NA 2504 0.1012 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS43197.1 4p16 2013-01-10 2006-09-29 ENSG00000215375 ENSG00000215375 4636 Myosins / Light chain, EF-hand domain containing 7586 protein-coding gene gene with protein product 160782 myosin, light polypeptide 5, regulatory NA 1284596 Standard NM_002477 NM_002477 NA Approved uc003gav.3 Q02045 OTTHUMG00000159971 ENST00000400159.2:c.4-110G>C chr4.hg19:g.672337G>C NA Q8IXL8 hg19 CCDS43197.1 0.02 1.769013 CCCxAAG COVERED NOVEL MYL5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000358570.2 1 6.319932 KEEP 0 0 0 21 705 GG 0.999869 0.999276 0 + 5 60 166 0 0 10.845089 76 60 2597 114 ENST00000400159.2 0.061728 0.999407 MYL5 4636 __UNKNOWN__ __UNKNOWN__ 4 673772 673772 __UNKNOWN__ Missense_Mutation SNP C C T rs61748885 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:673772C>T ENST00000400159.2 + 4 362 c.257C>T c.(256-258)aCc>aTc p.T86I MYL5_ENST00000511290.1_Missense_Mutation_p.T45I|MYL5_ENST00000506838.1_Missense_Mutation_p.T45I|MYL5_ENST00000505477.1_Missense_Mutation_p.T45I NM_002477.1 NP_002468.1 Q02045 MYL5_HUMAN myosin, light chain 5, regulatory 86 NA regulation of muscle contraction (GO:0006937) muscle myosin complex (GO:0005859) calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307) endometrium(1)|kidney(1)|lung(1) 3 ATCAACTTCACCATGTTTCTG 0.572 NA C||| 343 0.0684904 0.0015 0.0086 5008 , , NA 19255 0.2351 NA 0.0179 False NA ,,, NA NA NA 2504 0.0818 NA NA NA NA 0 C ILE/THR 20,4376 26.2+/-53.5 0,20,2178 86 100 96 257 4.1 1 4 dbSNP_129 96 75,8525 44.5+/-102.8 1,73,4226 yes missense MYL5 NM_002477.1 89 1,93,6404 TT,TC,CC 0.8721,0.455,0.731 probably-damaging 86/174 673772 95,12901 2198 4300 6498 SO:0001583 missense CCDS43197.1 4p16 2013-01-10 2006-09-29 ENSG00000215375 ENSG00000215375 4636 Myosins / Light chain, EF-hand domain containing 7586 protein-coding gene gene with protein product 160782 myosin, light polypeptide 5, regulatory NA 1284596 Standard NM_002477 NM_002477 NA Approved uc003gav.3 Q02045 OTTHUMG00000159971 ENST00000400159.2:c.257C>T chr4.hg19:g.673772C>T ENSP00000383023:p.Thr86Ile NA Q8IXL8 hg19 CCDS43197.1 0.02 10.534108 TCAxCAT COVERED 163 0.07463369963369963 1 0.0020325203252032522 4 0.011049723756906077 142 0.24825174825174826 16 0.021108179419525065 C 21.8 4.207275 0.79240 0.00455 0.008721 ENSG00000215375 ENST00000506838;ENST00000505477;ENST00000511290;ENST00000400159;ENST00000507804 T;T;T;T;T 0.79554 -1.28;-1.28;-1.28;-1.28;-1.28 4.12 4.12 0.48240 EF-hand-like domain (1); 0.000000 0.32015 U 0.006714 T 0.00178 0.0005 M 0.90759 3.145 0.28764 P 0.9007257 D 0.71674 0.998 D 0.81914 0.995 T 0.00018 -1.2368 9 0.87932 D 0 . 13.8469 0.63472 0.0:1.0:0.0:0.0 rs61748885 86 Q02045 MYL5_HUMAN I 45;45;45;86;91 ENSP00000427153:T45I;ENSP00000423118:T45I;ENSP00000425162:T45I;ENSP00000383023:T86I;ENSP00000427317:T91I ENSP00000383023:T86I T + 2 0 MYL5 663772 1.000000 0.71417 1.000000 0.80357 0.701000 0.40568 3.982000 0.56909 1.843000 0.53566 0.561000 0.74099 ACC NOVEL MYL5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000358570.2 3 33.708209 KEEP 0 0 0 112 3959 CC 1 1 0 + 9 60 326 0 0 19.392671 288 60 10744 514 ENST00000400159.2 0.030303 1 MYL5 4636 __UNKNOWN__ __UNKNOWN__ 4 674218 674218 __UNKNOWN__ Intron SNP T T G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:674218T>G ENST00000400159.2 + 5 397 MYL5_ENST00000511290.1_Intron|MYL5_ENST00000506838.1_Intron|MYL5_ENST00000505477.1_Intron NM_002477.1 NP_002468.1 Q02045 MYL5_HUMAN myosin, light chain 5, regulatory NA NA regulation of muscle contraction (GO:0006937) muscle myosin complex (GO:0005859) calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307) endometrium(1)|kidney(1)|lung(1) 3 GGGGCAGGGGTCTCCCCTCCT 0.667 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS43197.1 4p16 2013-01-10 2006-09-29 ENSG00000215375 ENSG00000215375 4636 Myosins / Light chain, EF-hand domain containing 7586 protein-coding gene gene with protein product 160782 myosin, light polypeptide 5, regulatory NA 1284596 Standard NM_002477 NM_002477 NA Approved uc003gav.3 Q02045 OTTHUMG00000159971 ENST00000400159.2:c.293-80T>G chr4.hg19:g.674218T>G NA Q8IXL8 hg19 CCDS43197.1 0.02 2.746029 GGGxCTC COVERED NOVEL MYL5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000358570.2 2 7.210075 KEEP 0 0 0 24 616 TT 0.999909 0.999909 0 + 17 60 224 0 0 9.605996 114 60 3167 176 ENST00000400159.2 0.129771 1 GAK 2580 __UNKNOWN__ __UNKNOWN__ 4 876399 876399 __UNKNOWN__ Intron SNP T T C rs3736086 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:876399T>C ENST00000314167.4 - 14 1638 GAK_ENST00000511163.1_Intron NM_005255.2 NP_005246.2 O14976 GAK_HUMAN cyclin G associated kinase NA NA cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179) cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674) autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2) 39 Colorectal(103;0.219) CCCCAGCTCATGACTGGCGCT 0.572 NA T||| 236 0.0471246 0.0159 0.0432 5008 , , NA 20393 0.0615 NA 0.0527 False NA ,,, NA NA NA 2504 0.0716 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D88435 CCDS3340.1 4p16 2011-09-07 ENSG00000178950 ENSG00000178950 2580 Heat shock proteins / DNAJ (HSP40) 4113 protein-coding gene gene with protein product auxilin-2 602052 NA 9299234 Standard NM_005255 NM_005255 NA Approved DNAJC26 uc003gbm.4 O14976 OTTHUMG00000088301 ENST00000314167.4:c.1527+85A>G chr4.hg19:g.876399T>C NA Q5U4P5|Q9BVY6 hg19 CCDS3340.1 0.02 -0.429879 TCAxGAC COVERED NOVEL GAK-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000239188.1 0 3.00896 KEEP 0 0 0 10 307 TT 0.992708 0.947531 0 - 7 60 269 0 0 21.513247 42 60 1522 70 ENST00000314167.4 0.142857 0.954491 DGKQ 1609 __UNKNOWN__ __UNKNOWN__ 4 953250 953250 __UNKNOWN__ 3'UTR SNP T T C rs74472532 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:953250T>C ENST00000273814.3 - 0 4060 NM_001347.3 NP_001338.2 P52824 DGKQ_HUMAN diacylglycerol kinase, theta 110kDa NA NA blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to ATP (GO:0033198)|thrombin receptor signaling pathway (GO:0070493) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886) activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|phospholipase binding (GO:0043274) breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2) 9 OV - Ovarian serous cystadenocarcinoma(23;0.0158) GTGCACCATCTGAATCCTTGG 0.647 NA T||| 390 0.0778754 0.1006 0.0432 5008 , , NA 17515 0.0367 NA 0.0298 False NA ,,, NA NA NA 2504 0.1636 NA NA NA Esophageal Squamous(17;537 645 4447 26373) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L38707 CCDS3342.1 4p16.3 2008-08-29 2002-08-29 ENSG00000145214 ENSG00000145214 1609 2856 protein-coding gene gene with protein product 601207 diacylglycerol kinase, theta (110kD) DAGK4 NA 8617502, 9099683 Standard NM_001347 NA Approved DAGK, DAGK7 uc003gbw.4 P52824 OTTHUMG00000088629 ENST00000273814.3:c.*1158A>G chr4.hg19:g.953250T>C NA Q6P3W4 hg19 CCDS3342.1 0.02 19.715986 ATCxGAA COVERED NOVEL DGKQ-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000200888.1 5 18.354821 KEEP 0 0 0 61 1904 TT 1 1 0 - 18 70 654 0 0 40.737463 458 60 16946 654 ENST00000273814.3 0.037815 1 DGKQ 1609 __UNKNOWN__ __UNKNOWN__ 4 953698 953698 __UNKNOWN__ 3'UTR SNP A A C rs4690326 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:953698A>C ENST00000273814.3 - 0 3612 NM_001347.3 NP_001338.2 P52824 DGKQ_HUMAN diacylglycerol kinase, theta 110kDa NA NA blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to ATP (GO:0033198)|thrombin receptor signaling pathway (GO:0070493) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886) activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|phospholipase binding (GO:0043274) breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2) 9 OV - Ovarian serous cystadenocarcinoma(23;0.0158) TCTCCTCCCCAAGCAGAGGCA 0.637 NA C||| 2650 0.529153 0.5098 0.6167 5008 , , NA 19035 0.5 NA 0.5179 False NA ,,, NA NA NA 2504 0.5348 NA NA NA Esophageal Squamous(17;537 645 4447 26373) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L38707 CCDS3342.1 4p16.3 2008-08-29 2002-08-29 ENSG00000145214 ENSG00000145214 1609 2856 protein-coding gene gene with protein product 601207 diacylglycerol kinase, theta (110kD) DAGK4 NA 8617502, 9099683 Standard NM_001347 NA Approved DAGK, DAGK7 uc003gbw.4 P52824 OTTHUMG00000088629 ENST00000273814.3:c.*710T>G chr4.hg19:g.953698A>C NA Q6P3W4 hg19 CCDS3342.1 0.02 9.624774 CCCxAGC COVERED NOVEL DGKQ-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000200888.1 2 9.026406 KEEP 0 0 0 30 923 AA 0.999997 0.999997 0 - 10 60 375 0 0 24.400036 221 60 7971 316 ENST00000273814.3 0.04329 1 DGKQ 1609 __UNKNOWN__ __UNKNOWN__ 4 957037 957037 __UNKNOWN__ Silent SNP G G A rs559401862 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:957037G>A ENST00000273814.3 - 16 1849 c.1776C>T c.(1774-1776)ttC>ttT p.F592F DGKQ_ENST00000502309.1_5'UTR NM_001347.3 NP_001338.2 P52824 DGKQ_HUMAN diacylglycerol kinase, theta 110kDa 592 DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}. NA blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to ATP (GO:0033198)|thrombin receptor signaling pathway (GO:0070493) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886) activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|phospholipase binding (GO:0043274) breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2) 9 OV - Ovarian serous cystadenocarcinoma(23;0.0158) TGGGGTTCACGAACACAAGGA 0.627 NA G||| 1 0.000199681 0.0 0.0 5008 , , NA 18055 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA Esophageal Squamous(17;537 645 4447 26373) NA 0 34 39 37 NA NA 4 NA 957037 2201 4300 6501 SO:0001819 synonymous_variant L38707 CCDS3342.1 4p16.3 2008-08-29 2002-08-29 ENSG00000145214 ENSG00000145214 1609 2856 protein-coding gene gene with protein product 601207 diacylglycerol kinase, theta (110kD) DAGK4 NA 8617502, 9099683 Standard NM_001347 NA Approved DAGK, DAGK7 uc003gbw.4 P52824 OTTHUMG00000088629 ENST00000273814.3:c.1776C>T chr4.hg19:g.957037G>A NA Q6P3W4 hg19 CCDS3342.1 0.02 4.205653 CACxAAC COVERED . . . . . . . . . . G 5.430 0.264556 0.10294 . . ENSG00000145214 ENST00000509465 . . . 5.11 -3.83 0.04269 . . . . . T 0.49440 0.1557 . . . 0.80722 D 1 . . . . . . T 0.43686 -0.9376 4 . . . . 6.6567 0.22990 0.4731:0.1314:0.3955:0.0 . . . . L 526 . . S - 2 0 DGKQ 947037 0.766000 0.28496 0.954000 0.39281 0.349000 0.29174 -0.035000 0.12205 -1.013000 0.03383 -0.321000 0.08615 TCG NOVEL DGKQ-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000200888.1 0 14.145313 KEEP 0 0 0 47 1611 GG 1 0.999999 0 - 8 60 291 0 0 20.097231 114 60 4178 224 ENST00000273814.3 0.065574 0.999999 SLC26A1 10861 __UNKNOWN__ __UNKNOWN__ 4 983060 983060 __UNKNOWN__ Missense_Mutation SNP T T C rs3796622 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:983060T>C ENST00000361661.2 - 4 2044 c.1667A>G c.(1666-1668)cAg>cGg p.Q556R IDUA_ENST00000509744.1_3'UTR|SLC26A1_ENST00000398516.2_Missense_Mutation_p.Q556R|IDUA_ENST00000453894.1_Intron|SLC26A1_ENST00000398520.2_Intron|IDUA_ENST00000247933.4_Intron NM_213613.2 NP_998778.1 Q9H2B4 S26A1_HUMAN solute carrier family 26 (anion exchanger), member 1 556 STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}. NA Q -> R (in dbSNP:rs3796622). {ECO:0000269|PubMed:14702039, ECO:0000269|Ref.5}. 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|chloride transport (GO:0006821)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|oxalate transport (GO:0019532)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) anion:anion antiporter activity (GO:0015301)|chloride transmembrane transporter activity (GO:0015108)|oxalate transmembrane transporter activity (GO:0019531)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116) central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1) 8 OV - Ovarian serous cystadenocarcinoma(23;0.0158) GTAGAGTGACTGCAGGAAGAA 0.667 NA C||| 3434 0.685703 0.6967 0.6873 5008 , , NA 3769 0.629 NA 0.6392 False NA ,,, NA NA NA 2504 0.7761 NA NA NA NA 0 C ,ARG/GLN,,ARG/GLN 2895,1497 446.9+/-348.2 976,943,277 27 29 28 ,1667,,1667 -1.2 0.1 4 dbSNP_107 28 5547,3045 446.4+/-361.2 1796,1955,545 yes intron,missense,intron,missense IDUA,SLC26A1 NM_000203.3,NM_022042.2,NM_134425.1,NM_213613.2 ,43,,43 2772,2898,822 CC,CT,TT 35.4399,34.0847,34.9815 ,benign,,benign ,556/702,,556/702 983060 8442,4542 2196 4296 6492 SO:0001583 missense AF297659 CCDS33933.1, CCDS33934.1 4p16.3 2013-07-18 2013-07-18 ENSG00000145217 ENSG00000145217 10861 Solute carriers 10993 protein-coding gene gene with protein product 610130 solute carrier family 26 (sulfate transporter), member 1 NA Standard NM_022042, NM_134425 NM_213613 NA Approved SAT-1, EDM4 uc003gcc.3 Q9H2B4 OTTHUMG00000160003 ENST00000361661.2:c.1667A>G chr4.hg19:g.983060T>C ENSP00000354721:p.Gln556Arg NA A8K9N2|Q7Z5R3|Q96BK0 hg19 CCDS33934.1 0.02 18.017965 GACxGCA COVERED 1423 0.6515567765567766 330 0.6707317073170732 250 0.6906077348066298 351 0.6136363636363636 492 0.6490765171503958 C 2.810 -0.247243 0.05867 0.659153 0.645601 ENSG00000145217 ENST00000361661;ENST00000398516 D;D 0.86562 -2.14;-2.14 4.67 -1.25 0.09405 Sulphate transporter/antisigma-factor antagonist STAS (4); 0.380287 0.27891 N 0.017436 T 0.00012 0.0000 N 0.01529 -0.815 0.58432 P 1.0000000000287557E-6 B 0.02656 0.0 B 0.04013 0.001 T 0.49254 -0.8959 9 0.22109 T 0.4 . 11.2258 0.48882 0.0:0.3503:0.0:0.6497 rs3796622;rs58903610;rs3796622 556 Q9H2B4 S26A1_HUMAN R 556 ENSP00000354721:Q556R;ENSP00000381528:Q556R ENSP00000354721:Q556R Q - 2 0 SLC26A1 973060 0.000000 0.05858 0.124000 0.21820 0.382000 0.30200 0.022000 0.13511 -0.500000 0.06614 -1.204000 0.01649 CAG NOVEL SLC26A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000358783.1 2 22.200892 KEEP 0 1 38 87 2685 TT 1 1 0 - 23 60 806 0 0 52.883236 397 60 14592 621 ENST00000361661.2 0.054762 1 SLC26A1 10861 __UNKNOWN__ __UNKNOWN__ 4 983625 983625 __UNKNOWN__ Missense_Mutation SNP C C T rs3796623 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:983625C>T ENST00000361661.2 - 4 1479 c.1102G>A c.(1102-1104)Ggc>Agc p.G368S SLC26A1_ENST00000398516.2_Missense_Mutation_p.G368S|IDUA_ENST00000453894.1_Intron|SLC26A1_ENST00000398520.2_Intron|IDUA_ENST00000247933.4_Intron NM_213613.2 NP_998778.1 Q9H2B4 S26A1_HUMAN solute carrier family 26 (anion exchanger), member 1 368 NA 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|chloride transport (GO:0006821)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|oxalate transport (GO:0019532)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) anion:anion antiporter activity (GO:0015301)|chloride transmembrane transporter activity (GO:0015108)|oxalate transmembrane transporter activity (GO:0019531)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116) central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1) 8 OV - Ovarian serous cystadenocarcinoma(23;0.0158) ACAGAGTAGCCGTGACTGCGG 0.677 NA C||| 83 0.0165735 0.0008 0.0231 5008 , , NA 17305 0.0258 NA 0.0268 False NA ,,, NA NA NA 2504 0.0133 NA NA NA NA 0 C ,SER/GLY,,SER/GLY 31,4261 0,31,2115 12 12 12 ,1102,,1102 5.1 1 4 dbSNP_107 12 189,8235 0,189,4023 yes intron,missense,intron,missense IDUA,SLC26A1 NM_000203.3,NM_022042.2,NM_134425.1,NM_213613.2 ,56,,56 0,220,6138 TT,TC,CC 2.2436,0.7223,1.7301 ,probably-damaging,,probably-damaging ,368/702,,368/702 983625 220,12496 2146 4212 6358 SO:0001583 missense AF297659 CCDS33933.1, CCDS33934.1 4p16.3 2013-07-18 2013-07-18 ENSG00000145217 ENSG00000145217 10861 Solute carriers 10993 protein-coding gene gene with protein product 610130 solute carrier family 26 (sulfate transporter), member 1 NA Standard NM_022042, NM_134425 NM_213613 NA Approved SAT-1, EDM4 uc003gcc.3 Q9H2B4 OTTHUMG00000160003 ENST00000361661.2:c.1102G>A chr4.hg19:g.983625C>T ENSP00000354721:p.Gly368Ser NA A8K9N2|Q7Z5R3|Q96BK0 hg19 CCDS33934.1 0.02 4.680483 AGCxGTG COVERED 41 0.018772893772893772 3 0.006097560975609756 11 0.03038674033149171 10 0.017482517482517484 17 0.022427440633245383 C 20.2 3.955311 0.73902 0.007223 0.022436 ENSG00000145217 ENST00000361661;ENST00000398516 D;D 0.93604 -3.25;-3.25 5.14 5.14 0.70334 Sulphate transporter (1); 0.103089 0.64402 D 0.000003 D 0.90270 0.6957 M 0.84082 2.675 0.80722 D 1 D 0.59767 0.986 P 0.55391 0.775 D 0.90695 0.4616 10 0.87932 D 0 . 16.0772 0.80976 0.0:1.0:0.0:0.0 rs3796623 368 Q9H2B4 S26A1_HUMAN S 368 ENSP00000354721:G368S;ENSP00000381528:G368S ENSP00000354721:G368S G - 1 0 SLC26A1 973625 1.000000 0.71417 0.985000 0.45067 0.026000 0.11368 4.817000 0.62650 2.382000 0.81193 0.555000 0.69702 GGC NOVEL SLC26A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000358783.1 1 6.620419 KEEP 0 0 0 22 723 CC 0.999879 0.999852 0 - 6 60 229 0 0 15.855072 96 60 3290 150 ENST00000361661.2 0.058824 0.999973 SLC26A1 10861 __UNKNOWN__ __UNKNOWN__ 4 985727 985727 __UNKNOWN__ Intron SNP A A G rs3822020 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:985727A>G ENST00000361661.2 - 3 351 SLC26A1_ENST00000398516.2_Intron|IDUA_ENST00000453894.1_Intron|SLC26A1_ENST00000398520.2_Intron|IDUA_ENST00000247933.4_Intron NM_213613.2 NP_998778.1 Q9H2B4 S26A1_HUMAN solute carrier family 26 (anion exchanger), member 1 NA NA 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|chloride transport (GO:0006821)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|oxalate transport (GO:0019532)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) anion:anion antiporter activity (GO:0015301)|chloride transmembrane transporter activity (GO:0015108)|oxalate transmembrane transporter activity (GO:0019531)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116) central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1) 8 OV - Ovarian serous cystadenocarcinoma(23;0.0158) ATCCATCGTGAGGTGAGATGG 0.682 NA G||| 3441 0.687101 0.6959 0.6916 5008 , , NA 16350 0.63 NA 0.6412 False NA ,,, NA NA NA 2504 0.7781 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF297659 CCDS33933.1, CCDS33934.1 4p16.3 2013-07-18 2013-07-18 ENSG00000145217 ENSG00000145217 10861 Solute carriers 10993 protein-coding gene gene with protein product 610130 solute carrier family 26 (sulfate transporter), member 1 NA Standard NM_022042, NM_134425 NM_213613 NA Approved SAT-1, EDM4 uc003gcc.3 Q9H2B4 OTTHUMG00000160003 ENST00000361661.2:c.27-209T>C chr4.hg19:g.985727A>G NA A8K9N2|Q7Z5R3|Q96BK0 hg19 CCDS33934.1 0.02 15.748588 GTGxGGT COVERED 1428 0.6538461538461539 330 0.6707317073170732 252 0.6961325966850829 351 0.6136363636363636 495 0.6530343007915568 G 9.900 1.206545 0.22205 . . ENSG00000127415 ENST00000514192 D 0.94897 -3.55 1.6 0.549 0.17213 . . . . . T 0.00012 0.0000 . . . 0.80722 P 0.0 . . . . . . T 0.41484 -0.9506 5 0.23302 T 0.38 . 3.4882 0.07627 0.1817:0.0:0.5185:0.2998 rs3822020;rs57019266;rs3822020 . . . G 39 ENSP00000423685:R39G ENSP00000423685:R39G R + 1 2 IDUA 975727 0.000000 0.05858 0.001000 0.08648 0.023000 0.10783 -0.001000 0.12947 -0.233000 0.09797 -0.215000 0.12644 AGG NOVEL SLC26A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000358783.1 2 11.680912 KEEP 0 2 66 62 1886 AA 1 1 0 - 20 60 719 0 0 47.890165 341 60 12362 519 ENST00000361661.2 0.055402 1 IDUA 3425 __UNKNOWN__ __UNKNOWN__ 4 995868 995868 __UNKNOWN__ Silent SNP C C T rs114806891 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:995868C>T ENST00000247933.4 + 7 979 c.891C>T c.(889-891)aaC>aaT p.N297N IDUA_ENST00000514224.1_Silent_p.N165N|IDUA_ENST00000453894.1_Nonsense_Mutation_p.R284* NM_000203.3 NP_000194.2 P35475 IDUA_HUMAN iduronidase, alpha-L- 297 NA carbohydrate metabolic process (GO:0005975)|cell morphogenesis (GO:0000902)|chemical homeostasis (GO:0048878)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate catabolic process (GO:0030209)|disaccharide metabolic process (GO:0005984)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|limb morphogenesis (GO:0035108)|lysosome organization (GO:0007040)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281) coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202) L-iduronidase activity (GO:0003940) breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(23;0.0158) CCATTTACAACGACGAGGCGG 0.682 NA C||| 150 0.0299521 0.0076 0.0548 5008 , , NA 13632 0.0208 NA 0.0557 False NA ,,, NA NA NA 2504 0.0256 NA NA NA NA 0 C 65,4275 0,65,2105 24 26 26 891 -1.2 1 4 dbSNP_132 26 549,7959 21,507,3726 no coding-synonymous IDUA NM_000203.3 21,572,5831 TT,TC,CC 6.4528,1.4977,4.779 297/654 995868 614,12234 2170 4254 6424 SO:0001819 synonymous_variant M74715 CCDS3343.1 4p16.3 2012-10-02 ENSG00000127415 ENSG00000127415 3425 3.2.1.76 5391 protein-coding gene gene with protein product 252800 NA 1832239 Standard NM_000203 NM_000203 NA Approved MPS1 uc003gby.3 P35475 OTTHUMG00000088901 ENST00000247933.4:c.891C>T chr4.hg19:g.995868C>T NA B3KWK6 hg19 CCDS3343.1 0.02 19.535023 CAAxGAC COVERED 73 0.033424908424908424 7 0.014227642276422764 21 0.058011049723756904 11 0.019230769230769232 34 0.044854881266490766 C 32 5.173413 0.94807 0.014977 0.064528 ENSG00000127415 ENST00000453894 . . . 4.91 -1.16 0.09678 . . . . . . . . . . . 0.80722 A 1 . . . . . . . . . . 0.48119 T 0.1 0.484 10.2778 0.43521 0.0:0.3858:0.0:0.6142 . . . . X 284 . ENSP00000396458:R284X R + 1 2 IDUA 985868 0.070000 0.21116 0.992000 0.48379 0.911000 0.54048 -0.575000 0.05861 -0.247000 0.09597 -0.254000 0.11334 CGA NOVEL IDUA-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000201812.1 3 26.513793 KEEP 0 1 31 99 3327 CC 1 1 0 + 24 60 836 0 0 54.067279 449 60 15322 746 ENST00000247933.4 0.05074 1 IDUA 3425 __UNKNOWN__ __UNKNOWN__ 4 997488 997488 __UNKNOWN__ Intron SNP G G T rs2305489 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:997488G>T ENST00000247933.4 + 12 1815 IDUA_ENST00000514224.1_Intron|IDUA_ENST00000453894.1_Intron NM_000203.3 NP_000194.2 P35475 IDUA_HUMAN iduronidase, alpha-L- NA NA carbohydrate metabolic process (GO:0005975)|cell morphogenesis (GO:0000902)|chemical homeostasis (GO:0048878)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate catabolic process (GO:0030209)|disaccharide metabolic process (GO:0005984)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|limb morphogenesis (GO:0035108)|lysosome organization (GO:0007040)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281) coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202) L-iduronidase activity (GO:0003940) breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(23;0.0158) TCACCCATGCGGTCACTCGGG 0.711 NA G||| 145 0.0289537 0.0076 0.0548 5008 , , NA 13659 0.0198 NA 0.0517 False NA ,,, NA NA NA 2504 0.0256 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M74715 CCDS3343.1 4p16.3 2012-10-02 ENSG00000127415 ENSG00000127415 3425 3.2.1.76 5391 protein-coding gene gene with protein product 252800 NA 1832239 Standard NM_000203 NM_000203 NA Approved MPS1 uc003gby.3 P35475 OTTHUMG00000088901 ENST00000247933.4:c.1727+75G>T chr4.hg19:g.997488G>T NA B3KWK6 hg19 CCDS3343.1 0.02 8.600003 TGCxGTC COVERED NOVEL IDUA-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000201812.1 0 12.613925 KEEP 0 0 0 42 1394 GG 1 1 0 + 8 60 295 0 0 18.214402 224 60 8038 311 ENST00000247933.4 0.034483 1 FGFRL1 53834 __UNKNOWN__ __UNKNOWN__ 4 1017732 1017732 __UNKNOWN__ Silent SNP C C T rs200618237 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:1017732C>T ENST00000398484.2 + 6 1141 c.561C>T c.(559-561)gaC>gaT p.D187D FGFRL1_ENST00000504138.1_Silent_p.D187D|FGFRL1_ENST00000264748.6_Silent_p.D187D|FGFRL1_ENST00000510644.1_Silent_p.D187D Q8N441 FGRL1_HUMAN fibroblast growth factor receptor-like 1 187 Ig-like C2-type 2. NA diaphragm development (GO:0060539)|heart valve morphogenesis (GO:0003179)|negative regulation of cell proliferation (GO:0008285)|skeletal system development (GO:0001501)|ventricular septum morphogenesis (GO:0060412) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201) endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 13 OV - Ovarian serous cystadenocarcinoma(23;0.0158) GGATGAAGGACGACCAGGCCT 0.662 NA c||| 4 0.000798722 0.0 0.0014 5008 , , NA 6794 0.002 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 23 24 24 NA NA 4 NA 1017732 2185 4284 6469 SO:0001819 synonymous_variant CCDS3344.1 4p16 2013-01-11 ENSG00000127418 ENSG00000127418 53834 Immunoglobulin superfamily / I-set domain containing 3693 protein-coding gene gene with protein product 605830 NA Standard NM_021923 NM_021923 NA Approved uc003gcg.3 Q8N441 OTTHUMG00000118998 ENST00000398484.2:c.561C>T chr4.hg19:g.1017732C>T NA B2RAU9|Q6PJN1|Q9BXN7|Q9H4D7 hg19 CCDS3344.1 0.02 10.651041 GGAxGAC COVERED NOVEL FGFRL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000239195.2 0 34.340827 KEEP 0 1 31 125 4265 CC 1 1 0 + 10 60 376 0 0 23.584622 274 60 9632 515 ENST00000398484.2 0.035211 1 SPON2 10417 __UNKNOWN__ __UNKNOWN__ 4 1164277 1164277 __UNKNOWN__ Missense_Mutation SNP C C G rs2279279 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:1164277C>G ENST00000290902.5 - 5 1056 c.724G>C c.(724-726)Gtg>Ctg p.V242L SPON2_ENST00000431380.1_Missense_Mutation_p.V242L NM_012445.3 NP_036577 Q9BUD6 SPON2_HUMAN spondin 2, extracellular matrix protein 242 NA V -> L (in dbSNP:rs2279279). {ECO:0000269|PubMed:12975309, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.5}. axon guidance (GO:0007411)|cell adhesion (GO:0007155)|innate immune response (GO:0045087) extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578) metal ion binding (GO:0046872) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1) 9 OV - Ovarian serous cystadenocarcinoma(23;0.00805) UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19) CGCAGCCGCACCAGTGTCACC 0.637 NA C||| 2771 0.553315 0.2239 0.7089 5008 , , NA 17227 0.6766 NA 0.6829 False NA ,,, NA NA NA 2504 0.6278 NA NA NA NA 0 C LEU/VAL,LEU/VAL,LEU/VAL 1230,3176 425.3+/-340.8 181,868,1154 99 97 98 724,724,724 3.8 1 4 dbSNP_100 98 5779,2821 676.1+/-403.3 1951,1877,472 yes missense,missense,missense SPON2 NM_001128325.2,NM_001199021.1,NM_012445.3 32,32,32 2132,2745,1626 GG,GC,CC 32.8023,27.9165,46.1095 benign,benign,benign 242/332,242/332,242/332 1164277 7009,5997 2203 4300 6503 SO:0001583 missense AB027466 CCDS3347.1 4p16.3 2008-07-29 ENSG00000159674 ENSG00000159674 10417 11253 protein-coding gene gene with protein product Mindin, M-spondin 605918 NA 10512675, 15094111 Standard NM_012445 NA Approved DIL1 uc003gco.4 Q9BUD6 OTTHUMG00000089002 ENST00000290902.5:c.724G>C chr4.hg19:g.1164277C>G ENSP00000290902:p.Val242Leu NA D3DVN9|Q4W5N4|Q9ULW1 hg19 CCDS3347.1 0.02 6.905122 GCAxCAG COVERED 1269 0.5810439560439561 113 0.22967479674796748 243 0.6712707182320442 402 0.7027972027972028 511 0.6741424802110818 C 13.10 2.135501 0.37728 0.279165 0.671977 ENSG00000159674 ENST00000290902;ENST00000431380 T;T 0.09350 2.99;2.99 4.74 3.83 0.44106 . 0.211682 0.42682 D 0.000679 T 0.00012 0.0000 M 0.65975 2.015 0.28050 P 0.9333867 B 0.30146 0.27 B 0.26614 0.071 T 0.26710 -1.0095 9 0.19147 T 0.46 . 7.1626 0.25672 0.1712:0.741:0.0:0.0879 rs2279279;rs17853592;rs17857703;rs59051530;rs2279279 242 Q9BUD6 SPON2_HUMAN L 242 ENSP00000290902:V242L;ENSP00000394832:V242L ENSP00000290902:V242L V - 1 0 SPON2 1154277 1.000000 0.71417 1.000000 0.80357 0.277000 0.26821 2.473000 0.45145 2.180000 0.69256 0.609000 0.83330 GTG NOVEL SPON2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000202080.2 3 14.142024 KEEP 0 0 0 47 1597 CC 1 1 0 - 11 60 400 0 0 27.035573 178 60 6398 263 ENST00000290902.5 0.058201 1 SPON2 10417 __UNKNOWN__ __UNKNOWN__ 4 1165130 1165130 __UNKNOWN__ Missense_Mutation SNP G G T rs11247975 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:1165130G>T ENST00000290902.5 - 3 697 c.365C>A c.(364-366)gCg>gAg p.A122E SPON2_ENST00000431380.1_Missense_Mutation_p.A122E NM_012445.3 NP_036577 Q9BUD6 SPON2_HUMAN spondin 2, extracellular matrix protein 122 Spondin. {ECO:0000255|PROSITE- ProRule:PRU00364}. NA E -> A (in dbSNP:rs11247975). {ECO:0000269|PubMed:10512675, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15815621, ECO:0000269|Ref.5}. axon guidance (GO:0007411)|cell adhesion (GO:0007155)|innate immune response (GO:0045087) extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578) metal ion binding (GO:0046872) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1) 9 OV - Ovarian serous cystadenocarcinoma(23;0.00805) UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19) CGAAAACACCGCGTGCACGCT 0.741 NA G||| 2777 0.554513 0.2284 0.7089 5008 , , NA 7824 0.6756 NA 0.6839 False NA ,,, NA NA NA 2504 0.6278 NA NA NA NA 0 G GLU/ALA,GLU/ALA,GLU/ALA 1309,2873 248,813,1030 9 10 10 365,365,365 -8.2 0 4 dbSNP_120 10 5672,2592 2032,1608,492 no missense,missense,missense SPON2 NM_001128325.2,NM_001199021.1,NM_012445.3 107,107,107 2280,2421,1522 TT,TG,GG 31.365,31.3008,43.9097 benign,benign,benign 122/332,122/332,122/332 1165130 6981,5465 2091 4132 6223 SO:0001583 missense AB027466 CCDS3347.1 4p16.3 2008-07-29 ENSG00000159674 ENSG00000159674 10417 11253 protein-coding gene gene with protein product Mindin, M-spondin 605918 NA 10512675, 15094111 Standard NM_012445 NA Approved DIL1 uc003gco.4 Q9BUD6 OTTHUMG00000089002 ENST00000290902.5:c.365C>A chr4.hg19:g.1165130G>T ENSP00000290902:p.Ala122Glu NA D3DVN9|Q4W5N4|Q9ULW1 hg19 CCDS3347.1 0.02 3.881739 ACCxCGT COVERED 1270 0.5815018315018315 113 0.22967479674796748 243 0.6712707182320442 402 0.7027972027972028 512 0.6754617414248021 G 7.379 0.628442 0.14257 0.313008 0.68635 ENSG00000159674 ENST00000290902;ENST00000431380 T;T 0.40225 1.04;1.04 4.59 -8.23 0.01033 . 0.467518 0.24691 N 0.036396 T 0.00012 0.0000 . . . 0.45439 P 0.0015880000000000338 B 0.14012 0.009 B 0.17722 0.019 T 0.23119 -1.0197 8 0.06236 T 0.91 . 10.9761 0.47467 0.0:0.2464:0.5771:0.1766 rs11247975;rs17853593;rs17857704;rs11247975 122 D3DVN9 . E 122 ENSP00000290902:A122E;ENSP00000394832:A122E ENSP00000290902:A122E A - 2 0 SPON2 1155130 0.309000 0.24518 0.000000 0.03702 0.270000 0.26580 0.841000 0.27613 -2.550000 0.00480 -0.416000 0.06073 GCG NOVEL SPON2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000202080.2 2 14.770836 KEEP 0 1 31 60 1859 GG 1 0.999999 0 - 6 60 211 0 0 13.517932 119 60 3544 224 ENST00000290902.5 0.048 0.999999 SPON2 10417 __UNKNOWN__ __UNKNOWN__ 4 1194630 1194630 __UNKNOWN__ Intron SNP T T C rs56401136 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:1194630T>C ENST00000400762.3 - 3 716 NR_024569.1 Q9BUD6 SPON2_HUMAN spondin 2, extracellular matrix protein NA NA axon guidance (GO:0007411)|cell adhesion (GO:0007155)|innate immune response (GO:0045087) extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578) metal ion binding (GO:0046872) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1) 9 OV - Ovarian serous cystadenocarcinoma(23;0.00805) UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19) TGGGGCCAAGTCTGCAGTGTC 0.657 NA C||| 2125 0.424321 0.3366 0.4971 5008 , , NA 18368 0.5833 NA 0.3777 False NA ,,, NA NA NA 2504 0.3753 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB027466 CCDS3347.1 4p16.3 2008-07-29 ENSG00000159674 ENSG00000159674 10417 11253 protein-coding gene gene with protein product Mindin, M-spondin 605918 NA 10512675, 15094111 Standard NM_012445 NA Approved DIL1 uc003gco.4 Q9BUD6 OTTHUMG00000089002 ENST00000400762.3:c.1020+426A>G chr4.hg19:g.1194630T>C NA D3DVN9|Q4W5N4|Q9ULW1 hg19 0.02 21.935611 AAGxCTG COVERED 931 0.42628205128205127 155 0.3150406504065041 163 0.45027624309392267 338 0.5909090909090909 275 0.3627968337730871 C 0.094 -1.163237 0.01673 . . ENSG00000181877 ENST00000314552 . . . 0.418 -0.835 0.10775 . . . . . T 0.00012 0.0000 . . . 0.58432 P 2.9999999999752447E-6 B 0.02656 0.0 B 0.01281 0.0 T 0.49021 -0.8982 5 0.87932 D 0 . . . . rs56401136;rs61605660;rs62293588 139 E7EUI4 . G 139 . ENSP00000321316:D139G D - 2 0 AC092535.1 1184630 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -0.327000 0.07955 -2.690000 0.00404 -2.682000 0.00141 GAC NOVEL SPON2-018 KNOWN basic processed_transcript NA protein_coding OTTHUMT00000359506.1 4 47.162125 KEEP 0 1 32 168 5094 TT 1 1 0 - 19 60 699 0 0 44.692263 465 60 16291 790 ENST00000400762.3 0.039256 1 CTBP1 1487 __UNKNOWN__ __UNKNOWN__ 4 1231435 1231435 __UNKNOWN__ Intron SNP C C T rs151114452 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:1231435C>T ENST00000382952.3 - 3 547 CTBP1_ENST00000290921.6_Intron|CTBP1_ENST00000510568.1_3'UTR|CTBP1_ENST00000515690.1_Intron NM_001012614.1 NP_001012632.1 Q13363 CTBP1_HUMAN C-terminal binding protein 1 NA NA Golgi organization (GO:0007030)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone H4 acetylation (GO:0090241)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone deacetylation (GO:0031065)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of transcription by chromatin organization (GO:0034401)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872) cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053) NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134) endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1) 8 OV - Ovarian serous cystadenocarcinoma(23;0.00818) Colorectal(103;0.2) ACCCCGTGTCCACCTCCTGAT 0.622 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U37408 CCDS3348.1, CCDS43203.1 4p16 2008-02-05 ENSG00000159692 ENSG00000159692 1487 2494 protein-coding gene gene with protein product brefeldin A-ribosylated substrate 602618 NA 9479502 Standard NM_001328 XM_005272261 NA Approved BARS uc003gcv.1 Q13363 OTTHUMG00000089259 ENST00000382952.3:c.162+535G>A chr4.hg19:g.1231435C>T NA Q4W5N3|Q7Z2Q5 hg19 CCDS43203.1 0.02 5.807783 GTCxACC COVERED NOVEL CTBP1-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000359459.1 0 13.222131 KEEP 2 0 0 44 1490 CC 1 1 0 - 10 60 317 0 0 19.590729 179 60 6444 292 ENST00000382952.3 0.05291 1 FAM53A 152877 __UNKNOWN__ __UNKNOWN__ 4 1642449 1642449 __UNKNOWN__ 3'UTR SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:1642449C>T ENST00000489363.1 - 0 2519 FAM53A_ENST00000308132.6_3'UTR|FAM53A_ENST00000472884.2_3'UTR|FAM53A_ENST00000461064.1_3'UTR Q6NSI3 FA53A_HUMAN family with sequence similarity 53, member A NA NA nucleus (GO:0005634) breast(2)|central_nervous_system(2)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 all_epithelial(65;0.206)|Breast(71;0.212) OV - Ovarian serous cystadenocarcinoma(23;0.0145) GCCGTGGCCCCGACCAACTCA 0.677 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC070112 CCDS33939.1, CCDS75091.1 4p16.3 2005-08-09 ENSG00000174137 ENSG00000174137 152877 31860 protein-coding gene gene with protein product NA Standard NM_001013622 NM_001013622 NA Approved DNTNP uc021xkl.1 Q6NSI3 OTTHUMG00000159855 ENST00000489363.1:c.*839G>A chr4.hg19:g.1642449C>T NA Q6ZUL5 hg19 0.02 4.457849 CCCxGAC COVERED NOVEL FAM53A-001 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000357744.1 0 9.328818 KEEP 2 0 0 31 1025 CC 0.999997 0.999994 0 - 10 60 374 0 0 28.19538 87 60 2947 171 ENST00000489363.1 0.103093 0.999997 FAM53A 152877 __UNKNOWN__ __UNKNOWN__ 4 1670459 1670459 __UNKNOWN__ Missense_Mutation SNP G G C rs369122428 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:1670459G>C ENST00000489363.1 - 2 607 c.10C>G c.(10-12)Ctc>Gtc p.L4V FAM53A_ENST00000308132.6_Missense_Mutation_p.L4V|FAM53A_ENST00000472884.2_Missense_Mutation_p.L4V|FAM53A_ENST00000461064.1_Missense_Mutation_p.L4V Q6NSI3 FA53A_HUMAN family with sequence similarity 53, member A 4 NA nucleus (GO:0005634) breast(2)|central_nervous_system(2)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 all_epithelial(65;0.206)|Breast(71;0.212) OV - Ovarian serous cystadenocarcinoma(23;0.0145) TCAGTGATGAGTGTGACCATG 0.647 NA G||| 2 0.000399361 0.0 0.0 5008 , , NA 16383 0.002 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 90 77 82 NA NA 4 NA 1670459 2203 4300 6503 SO:0001583 missense BC070112 CCDS33939.1, CCDS75091.1 4p16.3 2005-08-09 ENSG00000174137 ENSG00000174137 152877 31860 protein-coding gene gene with protein product NA Standard NM_001013622 NM_001013622 NA Approved DNTNP uc021xkl.1 Q6NSI3 OTTHUMG00000159855 ENST00000489363.1:c.10C>G chr4.hg19:g.1670459G>C ENSP00000419044:p.Leu4Val NA Q6ZUL5 hg19 0.02 14.076425 TGAxTGT COVERED . . . . . . . . . . G 18.27 3.587915 0.66105 . . ENSG00000174137 ENST00000308132;ENST00000489363;ENST00000461064;ENST00000472884;ENST00000463238 T;T;T;T;T 0.53857 0.6;0.6;0.6;0.6;0.6 4.27 4.27 0.50696 . 0.000000 0.43747 U 0.000532 T 0.65565 0.2703 L 0.54323 1.7 0.39007 D 0.959474 D;D 0.89917 1.0;1.0 D;D 0.87578 0.998;0.996 T 0.65635 -0.6120 10 0.32370 T 0.25 -3.3308 13.4296 0.61046 0.0:0.0:1.0:0.0 . 4;4 Q6NSI3;C9JYQ7 FA53A_HUMAN;. V 4 ENSP00000310057:L4V;ENSP00000419044:L4V;ENSP00000418243:L4V;ENSP00000426260:L4V;ENSP00000417615:L4V ENSP00000310057:L4V L - 1 0 FAM53A 1640257 0.997000 0.39634 0.997000 0.53966 0.928000 0.56348 1.874000 0.39568 1.932000 0.55993 0.462000 0.41574 CTC NOVEL FAM53A-001 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000357744.1 1 17.747861 KEEP 0 0 0 59 2069 GG 1 1 0 - 13 60 496 0 0 32.546947 288 60 11059 433 ENST00000489363.1 0.043189 1 NELFA 7469 __UNKNOWN__ __UNKNOWN__ 4 1986542 1986542 __UNKNOWN__ Silent SNP C C T rs2234570 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:1986542C>T ENST00000411638.2 - 8 1044 c.1029G>A c.(1027-1029)acG>acA p.T343T NELFA_ENST00000542778.1_Silent_p.T208T|NELFA_ENST00000382882.3_Silent_p.T354T NM_005663.4 NP_005654.3 Q9H3P2 NELFA_HUMAN negative elongation factor complex member A 343 NA gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032) cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) chromatin binding (GO:0003682) NA CACCTGGGGGCGTCTCGGAGC 0.672 NA C||| 1296 0.258786 0.0076 0.1844 5008 , , NA 18187 0.5952 NA 0.1938 False NA ,,, NA NA NA 2504 0.3712 NA NA NA NA 0 C 171,4193 4,163,2015 45 45 45 1062 -10.3 0 4 dbSNP_98 45 1455,7085 115,1225,2930 no coding-synonymous WHSC2 NM_005663.4 119,1388,4945 TT,TC,CC 17.0375,3.9184,12.6007 354/540 1986542 1626,11278 2182 4270 6452 SO:0001819 synonymous_variant AF101434 CCDS3358.2 4p16.3 2013-01-31 2013-01-31 2013-01-31 ENSG00000185049 ENSG00000185049 7469 12768 protein-coding gene gene with protein product 606026 Wolf-Hirschhorn syndrome candidate 2 WHSC2 NA 10409432 Standard NM_005663 NM_005663 NA Approved NELF-A uc003gem.3 Q9H3P2 OTTHUMG00000089967 ENST00000411638.2:c.1029G>A chr4.hg19:g.1986542C>T NA A2A2T1|O95392 hg19 0.02 1.329934 GGGxGTC COVERED 554 0.25366300366300365 6 0.012195121951219513 62 0.1712707182320442 336 0.5874125874125874 150 0.19788918205804748 C 3.052 -0.195068 0.06259 0.039184 0.170375 ENSG00000185049 ENST00000453740 . . . 5.13 -10.3 0.00346 . . . . . T 0.00012 0.0000 . . . 0.09310 P 0.9999999884854 . . . . . . T 0.26155 -1.0111 3 . . . -5.5093 1.6002 0.02672 0.1559:0.2889:0.199:0.3562 rs2234570;rs3185642;rs17410658;rs17849665;rs2234570 . . . H 244 . . R - 2 0 WHSC2 1956340 0.000000 0.05858 0.000000 0.03702 0.318000 0.28184 -3.469000 0.00460 -3.653000 0.00126 -0.176000 0.13171 CGC NOVEL NELFA-015 NOVEL basic|appris_principal protein_coding NA protein_coding OTTHUMT00000473007.1 0 10.534004 KEEP 0 0 0 35 1208 CC 0.999999 0.999947 0 - 6 60 184 0 0 11.472003 92 60 3298 149 ENST00000411638.2 0.061224 0.999948 POLN 353497 __UNKNOWN__ __UNKNOWN__ 4 2178943 2178943 __UNKNOWN__ Intron SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:2178943G>A ENST00000511885.2 - 9 1533 POLN_ENST00000382865.1_Intron|POLN_ENST00000515357.1_Intron Q7Z5Q5 DPOLN_HUMAN polymerase (DNA directed) nu NA NA double-strand break repair via homologous recombination (GO:0000724)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985) nucleus (GO:0005634) cyclin binding (GO:0030332)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887) kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2) 28 OV - Ovarian serous cystadenocarcinoma(23;0.0955) ATACCCCCAGGACAGGCCCAG 0.572 NA DNA polymerases (catalytic subunits) NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF044578 CCDS3360.1 4p16.3 2012-05-18 ENSG00000130997 ENSG00000130997 353497 DNA polymerases 18870 protein-coding gene gene with protein product 610887 NA 12794064 Standard NM_181808 NM_181808 NA Approved uc003ger.2 Q7Z5Q5 OTTHUMG00000090081 ENST00000511885.2:c.1180-882C>T chr4.hg19:g.2178943G>A NA A2A336|B4E158|Q4TTW4|Q6ZNF4 hg19 CCDS3360.1 0.02 2.105584 CAGxACA COVERED NOVEL POLN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000205684.2 2 2.70861 KEEP 0 0 0 9 306 GG 0.99254 0.972219 0 - 4 60 140 0 0 9.685524 51 60 1800 74 ENST00000511885.2 0.072727 0.979526 ZFYVE28 57732 __UNKNOWN__ __UNKNOWN__ 4 2271825 2271825 __UNKNOWN__ 3'UTR SNP G G A rs60130759 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:2271825G>A ENST00000508471.1 - 0 3311 ZFYVE28_ENST00000290974.2_3'UTR Q9HCC9 LST2_HUMAN zinc finger, FYVE domain containing 28 NA NA negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175) cytosol (GO:0005829)|early endosome membrane (GO:0031901) metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266) NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4) 31 GGAGCACCCTGCCTGCCTAGA 0.607 NA G||| 829 0.165535 0.2239 0.1037 5008 , , NA 18087 0.1925 NA 0.0577 False NA ,,, NA NA NA 2504 0.2137 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK126692 CCDS33942.1, CCDS54708.1, CCDS54709.1, CCDS54710.1, CCDS54711.1, CCDS54712.1 4p16.3 2008-05-02 ENSG00000159733 ENSG00000159733 57732 Zinc fingers, FYVE domain containing 29334 protein-coding gene gene with protein product 614176 NA 10997877 Standard XM_035371 NM_020972 NA Approved KIAA1643 uc003gex.2 Q9HCC9 OTTHUMG00000160292 ENST00000508471.1:c.*627C>T chr4.hg19:g.2271825G>A NA B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3 hg19 0.02 8.207441 CCTxCCT COVERED NOVEL ZFYVE28-004 NOVEL basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000360081.1 1 11.43748 KEEP 0 0 0 38 1374 GG 1 1 0 - 9 60 286 0 0 16.987077 213 60 8025 317 ENST00000508471.1 0.040541 1 ZFYVE28 57732 __UNKNOWN__ __UNKNOWN__ 4 2273210 2273210 __UNKNOWN__ Intron SNP C C A rs73797553 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:2273210C>A ENST00000508471.1 - 6 2449 ZFYVE28_ENST00000511071.1_Intron|ZFYVE28_ENST00000290974.2_Intron|ZFYVE28_ENST00000515312.1_Intron Q9HCC9 LST2_HUMAN zinc finger, FYVE domain containing 28 NA NA negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175) cytosol (GO:0005829)|early endosome membrane (GO:0031901) metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266) NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4) 31 GACCCTCAACCTACCCTGGGC 0.697 NA C||| 215 0.0429313 0.062 0.0072 5008 , , NA 14458 0.0139 NA 0.0169 False NA ,,, NA NA NA 2504 0.0992 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK126692 CCDS33942.1, CCDS54708.1, CCDS54709.1, CCDS54710.1, CCDS54711.1, CCDS54712.1 4p16.3 2008-05-02 ENSG00000159733 ENSG00000159733 57732 Zinc fingers, FYVE domain containing 29334 protein-coding gene gene with protein product 614176 NA 10997877 Standard XM_035371 NM_020972 NA Approved KIAA1643 uc003gex.2 Q9HCC9 OTTHUMG00000160292 ENST00000508471.1:c.344-69G>T chr4.hg19:g.2273210C>A NA B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3 hg19 0.02 1.755015 AACxTAC COVERED NOVEL ZFYVE28-004 NOVEL basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000360081.1 1 6.619806 KEEP 0 0 0 22 770 CC 0.999879 0.999798 0 - 8 60 276 0 0 19.503996 87 60 3104 142 ENST00000508471.1 0.084211 0.999919 ZFYVE28 57732 __UNKNOWN__ __UNKNOWN__ 4 2341137 2341137 __UNKNOWN__ Intron SNP C C T rs2071681 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:2341137C>T ENST00000509171.1 - 3 708 ZFYVE28_ENST00000511071.1_Intron|ZFYVE28_ENST00000515169.1_Intron|ZFYVE28_ENST00000503000.1_Intron|ZFYVE28_ENST00000290974.2_Intron|ZFYVE28_ENST00000515312.1_Intron NM_001172658.1 NP_001166129.1 Q9HCC9 LST2_HUMAN zinc finger, FYVE domain containing 28 NA NA negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175) cytosol (GO:0005829)|early endosome membrane (GO:0031901) metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266) NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4) 31 ACAACCGTCCCCCAGCTCATA 0.607 NA C||| 1274 0.254393 0.1233 0.3329 5008 , , NA 18349 0.4911 NA 0.1491 False NA ,,, NA NA NA 2504 0.2403 NA NA NA NA 0 C ,,,,, 565,3841 218.7+/-236.7 42,481,1680 50 40 44 ,,,,, 0.2 0 4 dbSNP_96 44 1243,7355 220.4+/-258.1 90,1063,3146 no intron,intron,intron,intron,intron,intron ZFYVE28 NM_001172656.1,NM_001172657.1,NM_001172658.1,NM_001172659.1,NM_001172660.1,NM_020972.2 ,,,,, 132,1544,4826 TT,TC,CC 14.4569,12.8234,13.9034 ,,,,, ,,,,, 2341137 1808,11196 2203 4299 6502 SO:0001627 intron_variant AK126692 CCDS33942.1, CCDS54708.1, CCDS54709.1, CCDS54710.1, CCDS54711.1, CCDS54712.1 4p16.3 2008-05-02 ENSG00000159733 ENSG00000159733 57732 Zinc fingers, FYVE domain containing 29334 protein-coding gene gene with protein product 614176 NA 10997877 Standard XM_035371 NM_020972 NA Approved KIAA1643 uc003gex.2 Q9HCC9 OTTHUMG00000160292 ENST00000509171.1:c.380+42G>A chr4.hg19:g.2341137C>T NA B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3 hg19 CCDS54710.1 0.02 2.294263 TCCxCCA COVERED NOVEL ZFYVE28-008 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000360085.1 0 4.815269 KEEP 0 0 0 16 545 CC 0.997832 0.997052 0 - 7 60 271 0 0 20.172267 72 60 2649 114 ENST00000509171.1 0.088608 0.999218 ZFYVE28 57732 __UNKNOWN__ __UNKNOWN__ 4 2343181 2343181 __UNKNOWN__ Intron SNP C C T rs2071679 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:2343181C>T ENST00000509171.1 - 2 505 ZFYVE28_ENST00000511071.1_Intron|ZFYVE28_ENST00000515169.1_Intron|ZFYVE28_ENST00000503000.1_Intron|ZFYVE28_ENST00000290974.2_Intron|ZFYVE28_ENST00000515312.1_Intron NM_001172658.1 NP_001166129.1 Q9HCC9 LST2_HUMAN zinc finger, FYVE domain containing 28 NA NA negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175) cytosol (GO:0005829)|early endosome membrane (GO:0031901) metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266) NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4) 31 TCAGGACCTCCGAACCCGGGT 0.652 NA C||| 1255 0.250599 0.0628 0.3242 5008 , , NA 15307 0.501 NA 0.1938 False NA ,,, NA NA NA 2504 0.2526 NA NA NA NA 0 C ,,,,, 434,3968 17,400,1784 18 21 20 ,,,,, -2.9 0 4 dbSNP_96 20 1559,7037 141,1277,2880 no intron,intron,intron,intron,intron,intron ZFYVE28 NM_001172656.1,NM_001172657.1,NM_001172658.1,NM_001172659.1,NM_001172660.1,NM_020972.2 ,,,,, 158,1677,4664 TT,TC,CC 18.1363,9.8592,15.3331 ,,,,, ,,,,, 2343181 1993,11005 2201 4298 6499 SO:0001627 intron_variant AK126692 CCDS33942.1, CCDS54708.1, CCDS54709.1, CCDS54710.1, CCDS54711.1, CCDS54712.1 4p16.3 2008-05-02 ENSG00000159733 ENSG00000159733 57732 Zinc fingers, FYVE domain containing 29334 protein-coding gene gene with protein product 614176 NA 10997877 Standard XM_035371 NM_020972 NA Approved KIAA1643 uc003gex.2 Q9HCC9 OTTHUMG00000160292 ENST00000509171.1:c.177+23G>A chr4.hg19:g.2343181C>T NA B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3 hg19 CCDS54710.1 0.02 1.996982 CTCxGAA COVERED NOVEL ZFYVE28-008 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000360085.1 2 4.815127 KEEP 0 0 0 16 527 CC 0.997832 0.977402 0 - 5 60 185 0 0 13.569369 51 60 1793 75 ENST00000509171.1 0.089286 0.979526 SH3BP2 6452 __UNKNOWN__ __UNKNOWN__ 4 2828527 2828527 __UNKNOWN__ Intron SNP G G C rs62637096 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:2828527G>C ENST00000356331.5 + 6 689 SH3BP2_ENST00000442312.2_Intron|SH3BP2_ENST00000452765.2_Intron|SH3BP2_ENST00000435136.2_Intron|SH3BP2_ENST00000503393.2_Intron|SH3BP2_ENST00000511747.1_Intron|SH3BP2_ENST00000515183.1_Intron NM_003023.4 NP_003014.3 P78314 3BP2_HUMAN SH3-domain binding protein 2 NA NA positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165) SH3/SH2 adaptor activity (GO:0005070) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 20 UCEC - Uterine corpus endometrioid carcinoma (64;0.164) gtgtgaacatgtgtgcttgtc 0.507 NA Cherubism C||| 1893 0.377995 0.3555 0.3444 5008 , , NA 34029 0.5149 NA 0.3479 False NA ,,, NA NA NA 2504 0.3221 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database Familial Benign Giant-cell Tumor of the Jaw, Familial Multilocular Cystic Disease BC022996 CCDS33944.1, CCDS54715.1, CCDS54716.1 4p16.3 2013-02-14 ENSG00000087266 6452 Pleckstrin homology (PH) domain containing, SH2 domain containing 10825 protein-coding gene gene with protein product 602104 Cherubism NA 9299232, 11381256 Standard NM_003023 NM_003023 NA Approved RES4-23, CRBM uc003gfj.4 P78314 ENST00000356331.5:c.429-430G>C chr4.hg19:g.2828527G>C NA A6NNC2|B2R5R6|B4DT04|D3DVR0|D6R919|O00500|O15373|P78315 hg19 CCDS33944.1 0.02 4.329704 CATxTGT COVERED NOVEL SH3BP2-007 KNOWN alternative_5_UTR|basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000362406.2 2 5.052592 KEEP 0 1 35 29 1037 GG 0.999997 0.999997 0 + 5 60 190 0 0 11.989563 137 60 5268 204 ENST00000356331.5 0.035211 1 SH3BP2 6452 __UNKNOWN__ __UNKNOWN__ 4 2828630 2828630 __UNKNOWN__ Intron SNP G G T rs62645794 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:2828630G>T ENST00000356331.5 + 6 689 SH3BP2_ENST00000442312.2_Intron|SH3BP2_ENST00000452765.2_Intron|SH3BP2_ENST00000435136.2_Intron|SH3BP2_ENST00000503393.2_Intron|SH3BP2_ENST00000511747.1_Intron|SH3BP2_ENST00000515183.1_Intron NM_003023.4 NP_003014.3 P78314 3BP2_HUMAN SH3-domain binding protein 2 NA NA positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165) SH3/SH2 adaptor activity (GO:0005070) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 20 UCEC - Uterine corpus endometrioid carcinoma (64;0.164) CTGTGTCTTTGTGTATATATA 0.468 NA Cherubism g||| 1091 0.217851 0.0159 0.1931 5008 , , NA 30001 0.4474 NA 0.2863 False NA ,,, NA NA NA 2504 0.2014 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database Familial Benign Giant-cell Tumor of the Jaw, Familial Multilocular Cystic Disease BC022996 CCDS33944.1, CCDS54715.1, CCDS54716.1 4p16.3 2013-02-14 ENSG00000087266 6452 Pleckstrin homology (PH) domain containing, SH2 domain containing 10825 protein-coding gene gene with protein product 602104 Cherubism NA 9299232, 11381256 Standard NM_003023 NM_003023 NA Approved RES4-23, CRBM uc003gfj.4 P78314 ENST00000356331.5:c.429-327G>T chr4.hg19:g.2828630G>T NA A6NNC2|B2R5R6|B4DT04|D3DVR0|D6R919|O00500|O15373|P78315 hg19 CCDS33944.1 0.02 6.593274 TTTxTGT COVERED NOVEL SH3BP2-007 KNOWN alternative_5_UTR|basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000362406.2 10 5.321908 KEEP 0 3 92 50 1799 GG 1 1 0 + 10 60 360 0 0 24.03289 169 60 6352 286 ENST00000356331.5 0.055866 1 ADD1 118 __UNKNOWN__ __UNKNOWN__ 4 2928125 2928125 __UNKNOWN__ Intron SNP C C T rs1263345 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:2928125C>T ENST00000355842.3 + 17 2817 ADD1_ENST00000446856.1_Intron|ADD1_ENST00000398123.2_Intron|ADD1_ENST00000513328.2_Intron|ADD1_ENST00000503455.2_Intron|ADD1_ENST00000264758.7_Intron|ADD1_ENST00000398129.1_Intron|ADD1_ENST00000398125.1_Intron P35611 ADDA_HUMAN adducin 1 (alpha) NA NA actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cell morphogenesis (GO:0000902)|cell volume homeostasis (GO:0006884)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|endoplasmic reticulum unfolded protein response (GO:0030968)|erythrocyte differentiation (GO:0030218)|hemoglobin metabolic process (GO:0020027)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein binding (GO:0032092) cytosol (GO:0005829)|dendritic spine (GO:0043197)|F-actin capping protein complex (GO:0008290)|focal adhesion (GO:0005925)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069) actin binding (GO:0003779)|actin filament binding (GO:0051015)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)|transcription factor binding (GO:0008134) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2) 22 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CTCCTCGTGCCGTGTTGTCAT 0.637 NA C||| 3727 0.744209 0.7799 0.8055 5008 , , NA 18235 0.5694 NA 0.7823 False NA ,,, NA NA NA 2504 0.7935 NA NA NA Esophageal Squamous(71;505 1201 20414 34538 37449) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L07261 CCDS3363.1, CCDS3364.1, CCDS43205.1, CCDS75094.1 4p16.3 2009-04-22 ENSG00000087274 ENSG00000087274 118 243 protein-coding gene gene with protein product 102680 NA 1840603 Standard NM_014189 NM_001119 NA Approved uc003gfq.3 P35611 OTTHUMG00000122080 ENST00000355842.3:c.1955-244C>T chr4.hg19:g.2928125C>T NA A2A3N8|A2A3P0|B4DI79|D3DVR3|D3DVR4|D3DVR5|Q13734|Q14729|Q16156|Q86XM2|Q9UJB6 hg19 0.02 4.281395 TGCxGTG COVERED NOVEL ADD1-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000242839.1 1 2.94388 KEEP 0 1 32 21 697 CC 0.999879 0.999852 0 + 7 60 233 0 0 15.578254 95 60 3126 132 ENST00000355842.3 0.068627 0.999973 MFSD10 10227 __UNKNOWN__ __UNKNOWN__ 4 2934308 2934308 __UNKNOWN__ Intron SNP G G A rs1263349 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:2934308G>A ENST00000329687.4 - 4 1066 MFSD10_ENST00000507555.1_Intron|MFSD10_ENST00000355443.4_Intron|MFSD10_ENST00000508221.1_Intron|MFSD10_ENST00000514800.1_Intron NM_001120.4 NP_001111.3 Q14728 MFS10_HUMAN major facilitator superfamily domain containing 10 NA NA apoptotic process (GO:0006915)|tetracycline transport (GO:0015904)|transmembrane transport (GO:0055085)|transport (GO:0006810) integral component of membrane (GO:0016021) tetracycline transporter activity (GO:0008493) breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1) 7 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) GACCCCAAAGGCCCAGCCTGT 0.632 NA G||| 3722 0.743211 0.7708 0.8084 5008 , , NA 18202 0.5427 NA 0.8032 False NA ,,, NA NA NA 2504 0.8047 NA NA NA NA 0 G , 3387,1019 727.1+/-409.8 1294,799,110 78 90 86 , -1.8 0 4 dbSNP_87 86 6977,1623 741.7+/-407.2 2831,1315,154 no intron,intron MFSD10 NM_001120.4,NM_001146069.1 , 4125,2114,264 AA,AG,GG 18.8721,23.1276,20.3137 , , 2934308 10364,2642 2203 4300 6503 SO:0001627 intron_variant L11669 CCDS3365.1 4p16.3 2008-03-03 ENSG00000109736 ENSG00000109736 10227 16894 protein-coding gene gene with protein product tetracycline transporter like protein 610977 NA 8353488, 17362938 Standard NM_001120 NM_001120 NA Approved TETRAN, IT10C3 uc003gfz.3 Q14728 OTTHUMG00000122081 ENST00000329687.4:c.531+18C>T chr4.hg19:g.2934308G>A NA Q07706 hg19 CCDS3365.1 0.02 17.86361 AAGxCCC COVERED NOVEL MFSD10-010 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000358072.2 3 33.102186 KEEP 0 3 100 145 5112 GG 1 1 0 - 24 60 863 0 0 58.274502 379 60 13760 690 ENST00000329687.4 0.059553 1 GRK4 2868 __UNKNOWN__ __UNKNOWN__ 4 3039150 3039150 __UNKNOWN__ Missense_Mutation SNP T T C rs1801058 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:3039150T>C ENST00000398052.4 + 14 1800 c.1457T>C c.(1456-1458)gTg>gCg p.V486A GRK4_ENST00000509545.1_3'UTR|GRK4_ENST00000504933.1_Missense_Mutation_p.V486A|GRK4_ENST00000398051.4_Missense_Mutation_p.V454A|GRK4_ENST00000345167.6_Missense_Mutation_p.V454A NM_182982.2 NP_892027.2 P32298 GRK4_HUMAN G protein-coupled receptor kinase 4 486 AGC-kinase C-terminal. NA V -> A (in dbSNP:rs1801058). {ECO:0000269|PubMed:1338872, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:8135832, ECO:0000269|PubMed:8626439, ECO:0000269|PubMed:9092566}. G-protein coupled receptor internalization (GO:0002031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032) cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025) ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254) lung(1)|upper_aerodigestive_tract(1) 2 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CAGTTCTCGGTGGTGAAAGGG 0.532 NA OREG0016045 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) t||| 3472 0.693291 0.91 0.6427 5008 , , NA 19188 0.5337 NA 0.5696 False NA ,,, NA NA NA 2504 0.728 NA NA NA NA 0 GRCh37 CM066866 GRK4 M rs1801058 T ALA/VAL,ALA/VAL,ALA/VAL 3727,679 763.0+/-413.2 1583,561,59 224 216 219 1361,1457,1457 -6.2 0 4 dbSNP_89 219 5057,3543 630.5+/-398.4 1460,2137,703 yes missense,missense,missense GRK4 NM_001004056.1,NM_001004057.1,NM_182982.2 64,64,64 3043,2698,762 CC,CT,TT 41.1977,15.4108,32.4619 benign,benign,benign 454/547,486/533,486/579 3039150 8784,4222 2203 4300 6503 SO:0001583 missense CCDS33946.1, CCDS33947.1, CCDS47002.1, CCDS68656.1 4p16.3 2008-02-05 2004-02-04 2004-02-06 ENSG00000125388 ENSG00000125388 2868 4543 protein-coding gene gene with protein product 137026 G protein-coupled receptor kinase 2-like (Drosophila) GPRK2L NA 1338872 Standard NM_005307 NM_182982 NA Approved GPRK4 uc003ggn.1 P32298 OTTHUMG00000159914 ENST00000398052.4:c.1457T>C chr4.hg19:g.3039150T>C ENSP00000381129:p.Val486Ala 608 O00641|O00642|Q13293|Q13294|Q13295|Q14453|Q14725|Q15313|Q15314|Q15315|Q15316|Q17RH6|Q53EQ8 hg19 CCDS33946.1 0.02 6.587766 CGGxGGT COVERED 1394 0.6382783882783882 452 0.9186991869918699 231 0.638121546961326 282 0.493006993006993 429 0.5659630606860159 T 10.83 1.459936 0.26248 0.845892 0.588023 ENSG00000125388 ENST00000398051;ENST00000398052;ENST00000345167;ENST00000504933 T;T;T;T 0.24350 1.86;1.86;1.86;1.86 4.73 -6.21 0.02065 AGC-kinase, C-terminal (2); 0.207018 0.40728 N 0.001032 T 0.00012 0.0000 N 0.14661 0.345 0.58432 P 1.0000000000287557E-6 B;B;B;B 0.06786 0.001;0.0;0.001;0.0 B;B;B;B 0.08055 0.002;0.001;0.003;0.001 T 0.39961 -0.9588 9 0.51188 T 0.08 -0.1758 13.1461 0.59463 0.0:0.3815:0.0:0.6185 rs1801058;rs52812762;rs56574318;rs56725050;rs1801058 454;454;486;486 P32298-3;P32298-2;P32298-4;P32298 .;.;.;GRK4_HUMAN A 454;486;454;486 ENSP00000381128:V454A;ENSP00000381129:V486A;ENSP00000264764:V454A;ENSP00000427445:V486A ENSP00000264764:V454A V + 2 0 GRK4 3008948 0.007000 0.16637 0.000000 0.03702 0.000000 0.00434 1.985000 0.40668 -2.045000 0.00910 -1.430000 0.01095 GTG NOVEL GRK4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000358176.2 0 5.48426 KEEP 0 2 74 44 1350 TT 1 1 0 + 7 60 250 0 0 15.314193 184 60 6602 302 ENST00000398052.4 0.036649 1 MSANTD1 345222 __UNKNOWN__ __UNKNOWN__ 4 3249828 3249828 __UNKNOWN__ Intron SNP T T C rs12646808 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:3249828T>C ENST00000507492.1 + 4 859 MSANTD1_ENST00000438480.2_5'UTR Q6ZTZ1 MSD1_HUMAN Myb/SANT-like DNA-binding domain containing 1 NA NA endometrium(1)|lung(2) 3 ACAGGTGCCGTGGGCTCCACA 0.672 NA T||| 1684 0.336262 0.0794 0.3847 5008 , , NA 20344 0.5437 NA 0.3479 False NA ,,, NA NA NA 2504 0.4233 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS47003.1 4p16.2 2012-03-02 2012-03-02 2012-03-02 ENSG00000188981 ENSG00000188981 345222 33741 protein-coding gene gene with protein product chromosome 4 open reading frame 44 C4orf44 NA Standard NM_001012982 NM_001042690 NA Approved LOC345222 uc003ggs.3 Q6ZTZ1 OTTHUMG00000159977 ENST00000507492.1:c.17-1177T>C chr4.hg19:g.3249828T>C NA C9J6V0 hg19 0.02 10.2172 CCGxGGG COVERED NOVEL MSANTD1-001 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000358238.2 3 17.750703 KEEP 0 0 0 59 1784 TT 1 1 0 + 8 60 288 0 0 17.045297 257 60 9167 412 ENST00000507492.1 0.030189 1 RGS12 6002 __UNKNOWN__ __UNKNOWN__ 4 3318413 3318413 __UNKNOWN__ Silent SNP A A G rs2236052 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:3318413A>G ENST00000344733.5 + 2 1420 c.516A>G c.(514-516)tcA>tcG p.S172S RGS12_ENST00000336727.3_Silent_p.S172S|RGS12_ENST00000543385.1_Silent_p.S172S|RGS12_ENST00000382788.3_Silent_p.S172S NM_198229.2 NP_937872.1 O14924 RGS12_HUMAN regulator of G-protein signaling 12 172 NA positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351) condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886) GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057) autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) GATCCCTTTCAGAGTCGGCCG 0.383 NA G||| 3736 0.746006 0.9796 0.6383 5008 , , NA 19217 0.6617 NA 0.5895 False NA ,,, NA NA NA 2504 0.7546 NA NA NA NA 0 G , 4010,396 184.7+/-212.0 1835,340,28 47 52 50 516,516 -9.1 0 4 dbSNP_98 50 5201,3399 497.7+/-374.6 1557,2087,656 no coding-synonymous,coding-synonymous RGS12 NM_002926.3,NM_198229.2 , 3392,2427,684 GG,GA,AA 39.5233,8.9877,29.1788 , 172/1377,172/1448 3318413 9211,3795 2203 4300 6503 SO:0001819 synonymous_variant AF035152 CCDS3366.1, CCDS3367.1, CCDS3368.1 4p16.3 2008-02-05 2007-08-14 ENSG00000159788 ENSG00000159788 6002 Regulators of G-protein signaling 9994 protein-coding gene gene with protein product 602512 regulator of G-protein signalling 12 NA 9651375 Standard NM_002926 NM_198229 NA Approved uc003ggw.3 O14924 OTTHUMG00000090277 ENST00000344733.5:c.516A>G chr4.hg19:g.3318413A>G NA B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95 hg19 CCDS3366.1 0.02 16.726406 TTCxGAG COVERED NOVEL RGS12-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000206602.1 0 11.973637 KEEP 0 4 138 88 2730 AA 1 1 0 + 19 60 657 0 0 41.424682 389 60 14599 623 ENST00000344733.5 0.046569 1 RGS12 6002 __UNKNOWN__ __UNKNOWN__ 4 3319271 3319271 __UNKNOWN__ Silent SNP C C T rs10006362 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:3319271C>T ENST00000344733.5 + 2 2278 c.1374C>T c.(1372-1374)gaC>gaT p.D458D RGS12_ENST00000336727.3_Silent_p.D458D|RGS12_ENST00000543385.1_Silent_p.D458D|RGS12_ENST00000382788.3_Silent_p.D458D NM_198229.2 NP_937872.1 O14924 RGS12_HUMAN regulator of G-protein signaling 12 458 NA positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351) condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886) GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057) autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) GCGCGTGGGACGGTGTGGGTG 0.682 NA C||| 1449 0.289337 0.3162 0.2911 5008 , , NA 16152 0.2619 NA 0.2475 False NA ,,, NA NA NA 2504 0.3231 NA NA NA NA 0 C , 1436,2970 446.5+/-348.0 242,952,1009 36 43 41 1374,1374 -5 0 4 dbSNP_119 41 2227,6371 367.3+/-334.7 294,1639,2366 no coding-synonymous,coding-synonymous RGS12 NM_002926.3,NM_198229.2 , 536,2591,3375 TT,TC,CC 25.9014,32.5919,28.1683 , 458/1377,458/1448 3319271 3663,9341 2203 4299 6502 SO:0001819 synonymous_variant AF035152 CCDS3366.1, CCDS3367.1, CCDS3368.1 4p16.3 2008-02-05 2007-08-14 ENSG00000159788 ENSG00000159788 6002 Regulators of G-protein signaling 9994 protein-coding gene gene with protein product 602512 regulator of G-protein signalling 12 NA 9651375 Standard NM_002926 NM_198229 NA Approved uc003ggw.3 O14924 OTTHUMG00000090277 ENST00000344733.5:c.1374C>T chr4.hg19:g.3319271C>T NA B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95 hg19 CCDS3366.1 0.02 17.084375 GGAxGGT COVERED NOVEL RGS12-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000206602.1 2 23.448274 KEEP 0 0 0 78 2628 CC 1 1 0 + 19 60 688 0 0 43.756351 428 60 14216 601 ENST00000344733.5 0.042506 1 RGS12 6002 __UNKNOWN__ __UNKNOWN__ 4 3416000 3416000 __UNKNOWN__ Intron SNP C C A rs113509553 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:3416000C>A ENST00000344733.5 + 5 3094 RGS12_ENST00000382788.3_Intron|RGS12_ENST00000508158.1_Intron|RGS12_ENST00000543385.1_Intron|RGS12_ENST00000338806.4_Intron|RGS12_ENST00000538395.1_Intron|RGS12_ENST00000306648.7_Intron|RGS12_ENST00000336727.3_Intron NM_198229.2 NP_937872.1 O14924 RGS12_HUMAN regulator of G-protein signaling 12 NA NA positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351) condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886) GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057) autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) AGCAGCGGAGCGGTCTGTGCT 0.687 NA C||| 409 0.0816693 0.093 0.0432 5008 , , NA 15402 0.0813 NA 0.0408 False NA ,,, NA NA NA 2504 0.136 NA NA NA NA 0 C ,, 278,3952 9,260,1846 16 17 17 ,, -6.2 0 4 dbSNP_132 17 298,8004 7,284,3860 no intron,intron,intron RGS12 NM_002926.3,NM_198227.1,NM_198229.2 ,, 16,544,5706 AA,AC,CC 3.5895,6.5721,4.5962 ,, ,, 3416000 576,11956 2115 4151 6266 SO:0001627 intron_variant AF035152 CCDS3366.1, CCDS3367.1, CCDS3368.1 4p16.3 2008-02-05 2007-08-14 ENSG00000159788 ENSG00000159788 6002 Regulators of G-protein signaling 9994 protein-coding gene gene with protein product 602512 regulator of G-protein signalling 12 NA 9651375 Standard NM_002926 NM_198229 NA Approved uc003ggw.3 O14924 OTTHUMG00000090277 ENST00000344733.5:c.2190+32C>A chr4.hg19:g.3416000C>A NA B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95 hg19 CCDS3366.1 0.02 2.224125 GAGxGGT COVERED NOVEL RGS12-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000206602.1 0 12.30145 KEEP 0 0 0 41 1333 CC 1 0.999726 0 + 7 60 272 0 0 19.966313 80 60 2816 175 ENST00000344733.5 0.08046 0.999726 RGS12 6002 __UNKNOWN__ __UNKNOWN__ 4 3424231 3424231 __UNKNOWN__ Silent SNP C C T rs16844330 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:3424231C>T ENST00000344733.5 + 11 3871 c.2967C>T c.(2965-2967)tcC>tcT p.S989S RGS12_ENST00000382788.3_Silent_p.S989S|RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000338806.4_Silent_p.S341S|RGS12_ENST00000538395.1_Silent_p.S331S|RGS12_ENST00000306648.7_Silent_p.S387S|RGS12_ENST00000336727.3_Silent_p.S989S NM_198229.2 NP_937872.1 O14924 RGS12_HUMAN regulator of G-protein signaling 12 989 RBD 1. {ECO:0000255|PROSITE- ProRule:PRU00262}. NA positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351) condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886) GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057) autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) ACATCCTGTCCGGACTCTGTG 0.637 NA C||| 427 0.0852636 0.0825 0.0663 5008 , , NA 16551 0.0962 NA 0.0398 False NA ,,, NA NA NA 2504 0.138 NA NA NA NA 0 C ,, 279,4123 154.4+/-187.8 11,257,1933 62 60 60 2967,1023,2967 -9.4 0 4 dbSNP_123 60 352,8246 117.9+/-177.5 12,328,3959 no coding-synonymous,coding-synonymous,coding-synonymous RGS12 NM_002926.3,NM_198227.1,NM_198229.2 ,, 23,585,5892 TT,TC,CC 4.094,6.338,4.8538 ,, 989/1377,341/800,989/1448 3424231 631,12369 2201 4299 6500 SO:0001819 synonymous_variant AF035152 CCDS3366.1, CCDS3367.1, CCDS3368.1 4p16.3 2008-02-05 2007-08-14 ENSG00000159788 ENSG00000159788 6002 Regulators of G-protein signaling 9994 protein-coding gene gene with protein product 602512 regulator of G-protein signalling 12 NA 9651375 Standard NM_002926 NM_198229 NA Approved uc003ggw.3 O14924 OTTHUMG00000090277 ENST00000344733.5:c.2967C>T chr4.hg19:g.3424231C>T NA B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95 hg19 CCDS3366.1 0.02 9.090229 GTCxGGA COVERED NOVEL RGS12-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000206602.1 3 19.541136 KEEP 0 0 0 65 2192 CC 1 1 0 + 12 60 439 0 0 29.059303 223 60 7571 368 ENST00000344733.5 0.051064 1 LRPAP1 4043 __UNKNOWN__ __UNKNOWN__ 4 3514414 3514414 __UNKNOWN__ 3'UTR SNP A A C rs17848281 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:3514414A>C ENST00000500728.2 - 0 1507 NM_002337.3 NP_002328.1 P30533 AMRP_HUMAN low density lipoprotein receptor-related protein associated protein 1 NA NA extracellular negative regulation of signal transduction (GO:1900116)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of protein binding (GO:0032091)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|protein folding (GO:0006457)|receptor-mediated endocytosis (GO:0006898)|vesicle-mediated transport (GO:0016192) endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|rough endoplasmic reticulum lumen (GO:0048237)|vesicle (GO:0031982) asialoglycoprotein receptor activity (GO:0004873)|heparin binding (GO:0008201)|low-density lipoprotein particle receptor binding (GO:0050750)|receptor antagonist activity (GO:0048019)|unfolded protein binding (GO:0051082)|very-low-density lipoprotein particle receptor binding (GO:0070326) breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2) 14 UCEC - Uterine corpus endometrioid carcinoma (64;0.165) ACCTGACAGCAGCTGGACATC 0.493 NA .||| 51 0.0101837 0.0 0.0 5008 , , NA 19707 0.0506 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS3371.1 4p16.3 2008-05-02 2003-03-17 ENSG00000163956 ENSG00000163956 4043 6701 protein-coding gene gene with protein product 104225 low density lipoprotein-related protein-associated protein 1 (alpha-2-macroglobulin receptor-associated protein 1) A2MRAP NA 1712782 Standard NM_002337 NA Approved HBP44 uc003ghh.4 P30533 OTTHUMG00000090299 ENST00000500728.2:c.*287T>G chr4.hg19:g.3514414A>C NA D3DVR9|Q2M310|Q53HQ3|Q53HS6 hg19 CCDS3371.1 0.02 10.872114 AGCxGCT COVERED NOVEL LRPAP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000206659.4 1 10.531031 KEEP 0 0 0 35 1082 AA 0.999999 0.999999 0 - 14 60 470 0 0 29.926271 256 60 9454 358 ENST00000500728.2 0.051852 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 4116808 4116808 __UNKNOWN__ IGR SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:4116808G>A NA NA AC116562.1 (30600 upstream) : OTOP1 (73721 downstream) NA NA NA cgcccgcctcggcctcccaaa 0.537 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.4116808G>A NA hg19 0.02 -0.052641 CTCxGCC UNCOVERED NOVEL 0 6 3.276049 KEEP 7 0 0 11 356 GG 0 0 0 4 60 157 0 0 15.949832 2 60 73 24 0.666667 0.036766 OTOP1 133060 __UNKNOWN__ __UNKNOWN__ 4 4199083 4199083 __UNKNOWN__ Missense_Mutation SNP T T G rs34666677 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:4199083T>G ENST00000296358.4 - 5 1502 c.1478A>C c.(1477-1479)aAg>aCg p.K493T NM_177998.1 NP_819056.1 Q7RTM1 OTOP1_HUMAN otopetrin 1 493 NA K -> T (in dbSNP:rs34666677). biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472) extracellular region (GO:0005576)|integral component of membrane (GO:0016021) NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) TGGCATGTCCTTGCCCTGGGG 0.592 NA t||| 304 0.0607029 0.0113 0.0591 5008 , , NA 15180 0.0298 NA 0.1093 False NA ,,, NA NA NA 2504 0.1104 NA NA NA NA 0 T THR/LYS 140,4266 90.6+/-129.3 2,136,2065 51 54 53 1478 -0.2 0 4 dbSNP_126 53 951,7649 193.7+/-239.3 68,815,3417 yes missense OTOP1 NM_177998.1 78 70,951,5482 GG,GT,TT 11.0581,3.1775,8.3884 benign 493/613 4199083 1091,11915 2203 4300 6503 SO:0001583 missense BK000653 CCDS3372.1 4p16.2 2008-02-05 ENSG00000163982 ENSG00000163982 133060 19656 protein-coding gene gene with protein product 607806 NA 12651873 Standard NM_177998 NM_177998 NA Approved uc003ghp.1 Q7RTM1 OTTHUMG00000090301 ENST00000296358.4:c.1478A>C chr4.hg19:g.4199083T>G ENSP00000296358:p.Lys493Thr NA A1L476 hg19 CCDS3372.1 0.02 16.721924 TCCxTGC COVERED 128 0.05860805860805861 8 0.016260162601626018 21 0.058011049723756904 18 0.03146853146853147 81 0.10686015831134564 t 4.779 0.144914 0.09134 0.031775 0.110581 ENSG00000163982 ENST00000296358 T 0.08458 3.09 4.92 -0.201 0.13212 . 2.641920 0.01146 N 0.006318 T 0.00109 0.0003 N 0.08118 0 0.09310 N 1 B 0.21071 0.051 B 0.16722 0.016 T 0.36456 -0.9747 10 0.13470 T 0.59 -0.0401 3.7221 0.08460 0.2674:0.4424:0.0:0.2903 rs34666677 493 Q7RTM1 OTOP1_HUMAN T 493 ENSP00000296358:K493T ENSP00000296358:K493T K - 2 0 OTOP1 4249984 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 0.700000 0.25601 -0.303000 0.08856 -0.308000 0.09152 AAG NOVEL OTOP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000206661.2 4 7.824126 KEEP 0 0 0 26 828 TT 0.999957 0.999957 0 - 17 60 608 0 0 39.162919 347 60 12365 473 ENST00000296358.4 0.046703 1 TMEM128 85013 __UNKNOWN__ __UNKNOWN__ 4 4249884 4249884 __UNKNOWN__ Missense_Mutation SNP G G T rs6854167 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:4249884G>T ENST00000382753.4 - 1 55 c.46C>A c.(46-48)Ctc>Atc p.L16I TMEM128_ENST00000540397.1_Missense_Mutation_p.L16I|TMEM128_ENST00000254742.2_5'UTR|TMEM128_ENST00000538516.1_Missense_Mutation_p.L16I Q5BJH2 TM128_HUMAN transmembrane protein 128 16 NA I -> L (in Ref. 2; CAI45928). {ECO:0000305}. integral component of membrane (GO:0016021) endometrium(1)|kidney(1) 2 UCEC - Uterine corpus endometrioid carcinoma (64;0.166) TCCGGCAGGAGGAGGAATCGC 0.726 NA G||| 841 0.167931 0.2526 0.085 5008 , , NA 13580 0.126 NA 0.1322 False NA ,,, NA NA NA 2504 0.1922 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense BC007729 CCDS3373.1, CCDS75099.1 4p16.3 2008-02-05 ENSG00000132406 ENSG00000132406 85013 28201 protein-coding gene gene with protein product NA Standard NM_032927 XM_005248034 NA Approved MGC13159 uc003ghq.1 Q5BJH2 OTTHUMG00000125475 ENST00000382753.4:c.46C>A chr4.hg19:g.4249884G>T ENSP00000372201:p.Leu16Ile NA B4DHS7|D3DVS3|Q5H9U6|Q96I94 hg19 0.02 8.416774 GGAxGAG COVERED 340 0.15567765567765568 134 0.27235772357723576 36 0.09944751381215469 66 0.11538461538461539 104 0.13720316622691292 G 5.552 0.286806 0.10513 . . ENSG00000132406 ENST00000382753;ENST00000538516;ENST00000540397 . . . 3.7 -1.76 0.08006 . 0.745995 0.12966 N 0.424550 T 0.00012 0.0000 . . . 0.80722 P 0.0 B;B 0.26147 0.143;0.073 B;B 0.24006 0.05;0.015 T 0.37934 -0.9684 7 0.19147 T 0.46 -1.7889 4.0501 0.09791 0.4587:0.1884:0.3528:0.0 rs6854167;rs59536286 16;16 B7Z3K1;D3DVS1 .;. I 16 . ENSP00000372201:L16I L - 1 0 TMEM128 4300785 0.000000 0.05858 0.017000 0.16124 0.074000 0.17049 -0.334000 0.07883 -0.315000 0.08703 0.585000 0.79938 CTC NOVEL TMEM128-002 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000246798.2 1 42.995405 KEEP 0 0 0 143 4988 GG 1 1 0 - 10 60 349 0 0 21.782115 222 60 8233 463 ENST00000382753.4 0.043103 1 LYAR 55646 __UNKNOWN__ __UNKNOWN__ 4 4276021 4276021 __UNKNOWN__ Intron SNP C C G rs12639962 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:4276021C>G ENST00000343470.4 - 7 1073 LYAR_ENST00000452476.1_Intron NM_017816.2 NP_060286 Q9NX58 LYAR_HUMAN Ly1 antibody reactive NA NA nucleolus (GO:0005730)|nucleus (GO:0005634) metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822) endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1) 17 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CTAGGTCTAACAGGCTTAAAT 0.483 NA C||| 1801 0.359625 0.6702 0.1873 5008 , , NA 19461 0.2738 NA 0.2445 False NA ,,, NA NA NA 2504 0.2689 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL136750 CCDS3374.1 4p16.3 2013-01-10 2012-12-07 ENSG00000145220 ENSG00000145220 55646 Zinc fingers, C2HC-type containing 26021 protein-coding gene gene with protein product Ly1 antibody reactive homolog (mouse) NA 11230166, 8491376 Standard NM_017816 NM_001145725 NA Approved ZC2HC2, ZLYAR uc003ght.3 Q9NX58 OTTHUMG00000125477 ENST00000343470.4:c.832+72G>C chr4.hg19:g.4276021C>G NA D3DVS4|Q6FI78|Q9NYS1 hg19 CCDS3374.1 0.02 6.470912 TAAxAGG COVERED NOVEL LYAR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000246800.2 1 9.629837 KEEP 0 0 0 32 1076 CC 0.999997 0.999997 0 - 8 60 288 0 0 18.375533 174 60 6339 249 ENST00000343470.4 0.043956 1 LYAR 55646 __UNKNOWN__ __UNKNOWN__ 4 4283676 4283676 __UNKNOWN__ Intron SNP G G A rs2272738 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:4283676G>A ENST00000343470.4 - 4 363 LYAR_ENST00000452476.1_Intron NM_017816.2 NP_060286 Q9NX58 LYAR_HUMAN Ly1 antibody reactive NA NA nucleolus (GO:0005730)|nucleus (GO:0005634) metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822) endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1) 17 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) AGTTGGAGGCGCTAATACCAG 0.398 NA G||| 869 0.173522 0.0129 0.2738 5008 , , NA 18679 0.247 NA 0.2654 False NA ,,, NA NA NA 2504 0.1493 NA NA NA NA 0 G , 184,2470 11,162,1154 91 84 87 , -5.9 0 4 dbSNP_100 87 1275,3343 180,915,1214 no intron,intron LYAR NM_001145725.1,NM_017816.2 , 191,1077,2368 AA,AG,GG 27.6094,6.9329,20.0633 , , 4283676 1459,5813 1327 2309 3636 SO:0001627 intron_variant AL136750 CCDS3374.1 4p16.3 2013-01-10 2012-12-07 ENSG00000145220 ENSG00000145220 55646 Zinc fingers, C2HC-type containing 26021 protein-coding gene gene with protein product Ly1 antibody reactive homolog (mouse) NA 11230166, 8491376 Standard NM_017816 NM_001145725 NA Approved ZC2HC2, ZLYAR uc003ght.3 Q9NX58 OTTHUMG00000125477 ENST00000343470.4:c.123-52C>T chr4.hg19:g.4283676G>A NA D3DVS4|Q6FI78|Q9NYS1 hg19 CCDS3374.1 0.02 10.891551 GGCxCTA COVERED NOVEL LYAR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000246800.2 0 14.44685 KEEP 0 0 0 48 1689 GG 1 1 0 - 15 60 525 0 0 34.304196 264 60 9598 393 ENST00000343470.4 0.053763 1 LYAR 55646 __UNKNOWN__ __UNKNOWN__ 4 4285265 4285265 __UNKNOWN__ Intron SNP T T A rs4688927 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:4285265T>A ENST00000343470.4 - 3 363 LYAR_ENST00000452476.1_Intron NM_017816.2 NP_060286 Q9NX58 LYAR_HUMAN Ly1 antibody reactive NA NA nucleolus (GO:0005730)|nucleus (GO:0005634) metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822) endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1) 17 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) AATTTGCCACTATTTTTCCAA 0.388 NA T||| 2035 0.40635 0.472 0.3501 5008 , , NA 19865 0.5496 NA 0.2922 False NA ,,, NA NA NA 2504 0.3272 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL136750 CCDS3374.1 4p16.3 2013-01-10 2012-12-07 ENSG00000145220 ENSG00000145220 55646 Zinc fingers, C2HC-type containing 26021 protein-coding gene gene with protein product Ly1 antibody reactive homolog (mouse) NA 11230166, 8491376 Standard NM_017816 NM_001145725 NA Approved ZC2HC2, ZLYAR uc003ght.3 Q9NX58 OTTHUMG00000125477 ENST00000343470.4:c.122+82A>T chr4.hg19:g.4285265T>A NA D3DVS4|Q6FI78|Q9NYS1 hg19 CCDS3374.1 0.02 4.235167 CACxATT COVERED NOVEL LYAR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000246800.2 0 12.335749 KEEP 0 0 0 41 1261 TT 1 1 0 - 8 60 282 0 0 18.97163 122 60 4527 200 ENST00000343470.4 0.061538 1 LYAR 55646 __UNKNOWN__ __UNKNOWN__ 4 4285545 4285545 __UNKNOWN__ Intron SNP A A C rs2916439 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:4285545A>C ENST00000343470.4 - 3 188 LYAR_ENST00000452476.1_Intron NM_017816.2 NP_060286 Q9NX58 LYAR_HUMAN Ly1 antibody reactive NA NA nucleolus (GO:0005730)|nucleus (GO:0005634) metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822) endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1) 17 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) AGACAATTATAATTATAAACT 0.294 NA C||| 2037 0.406749 0.4735 0.3501 5008 , , NA 19939 0.5496 NA 0.2922 False NA ,,, NA NA NA 2504 0.3272 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL136750 CCDS3374.1 4p16.3 2013-01-10 2012-12-07 ENSG00000145220 ENSG00000145220 55646 Zinc fingers, C2HC-type containing 26021 protein-coding gene gene with protein product Ly1 antibody reactive homolog (mouse) NA 11230166, 8491376 Standard NM_017816 NM_001145725 NA Approved ZC2HC2, ZLYAR uc003ght.3 Q9NX58 OTTHUMG00000125477 ENST00000343470.4:c.53-23T>G chr4.hg19:g.4285545A>C NA D3DVS4|Q6FI78|Q9NYS1 hg19 CCDS3374.1 0.02 9.220466 TATxATT COVERED NOVEL LYAR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000246800.2 1 15.04472 KEEP 0 0 0 50 1550 AA 1 1 0 - 7 60 269 0 0 16.814986 210 60 7657 329 ENST00000343470.4 0.032258 1 ZBTB49 166793 __UNKNOWN__ __UNKNOWN__ 4 4304522 4304522 __UNKNOWN__ Missense_Mutation SNP A A C rs2920217 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:4304522A>C ENST00000337872.4 + 3 1080 c.959A>C c.(958-960)tAc>tCc p.Y320S ZBTB49_ENST00000538529.1_5'UTR|ZBTB49_ENST00000355834.3_Missense_Mutation_p.Y320S NM_145291.3 NP_660334.3 Q6ZSB9 ZBT49_HUMAN zinc finger and BTB domain containing 49 320 NA Y -> S (in dbSNP:rs2920217). regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 28 TCACAGAAATACGCAGAGCAA 0.453 NA C||| 1015 0.202676 0.1036 0.2896 5008 , , NA 21998 0.247 NA 0.2694 False NA ,,, NA NA NA 2504 0.1605 NA NA NA NA 0 C SER/TYR 743,3663 757.0+/-412.7 72,599,1532 71 71 71 959 -3 0 4 dbSNP_101 71 2462,6138 696.3+/-404.9 346,1770,2184 yes missense ZBTB49 NM_145291.3 144 418,2369,3716 CC,CA,AA 28.6279,16.8634,24.6425 benign 320/766 4304522 3205,9801 2203 4300 6503 SO:0001583 missense AK095878 CCDS3375.1 4p16.2 2013-01-08 2010-01-26 2010-01-26 ENSG00000168826 ENSG00000168826 166793 -, Zinc fingers, C2H2-type, BTB/POZ domain containing 19883 protein-coding gene gene with protein product zinc finger protein 509 ZNF509 NA 12477932 Standard NM_145291 NM_145291 NA Approved FLJ38559 uc003ghu.3 Q6ZSB9 OTTHUMG00000090325 ENST00000337872.4:c.959A>C chr4.hg19:g.4304522A>C ENSP00000338807:p.Tyr320Ser NA Q59FJ4|Q5EBN0|Q8TB80 hg19 CCDS3375.1 0.02 11.038677 AATxCGC COVERED 479|479 0.21932234432234432|0.21932234432234432 50|50 0.1016260162601626|0.1016260162601626 101|101 0.27900552486187846|0.27900552486187846 123|123 0.21503496503496503|0.21503496503496503 205|205 0.2704485488126649|0.2704485488126649 C|C 7.651|7.651 0.682838|0.682838 0.14907|0.14907 0.168634|0.168634 0.286279|0.286279 ENSG00000168826|ENSG00000168826 ENST00000504302|ENST00000355834;ENST00000337872 .|T;T .|0.12255 .|2.7;3.06 5.57|5.57 -2.97|-2.97 0.05530|0.05530 .|. .|1.034610 .|0.07647 .|N .|0.931287 T|T 0.00012|0.00012 0.0000|0.0000 N|N 0.00104|0.00104 -2.125|-2.125 0.58432|0.58432 P|P 1.999999999946489E-6|1.999999999946489E-6 .|B;B .|0.02656 .|0.0;0.0 .|B;B .|0.01281 .|0.0;0.0 T|T 0.44590|0.44590 -0.9318|-0.9318 4|9 .|0.18276 .|T .|0.48 .|. 4.7855|4.7855 0.13223|0.13223 0.0952:0.3798:0.3715:0.1535|0.0952:0.3798:0.3715:0.1535 rs2920217;rs17644818;rs52807019;rs60931887;rs2920217|rs2920217;rs17644818;rs52807019;rs60931887;rs2920217 .|320;320 .|Q6ZSB9-2;Q6ZSB9 .|.;ZBT49_HUMAN P|S 57|320 .|ENSP00000348091:Y320S;ENSP00000338807:Y320S .|ENSP00000338807:Y320S T|Y +|+ 1|2 0|0 ZBTB49|ZBTB49 4355423|4355423 0.050000|0.050000 0.20438|0.20438 0.000000|0.000000 0.03702|0.03702 0.023000|0.023000 0.10783|0.10783 0.668000|0.668000 0.25127|0.25127 -1.381000|-1.381000 0.02112|0.02112 -0.187000|-0.187000 0.12897|0.12897 ACG|TAC NOVEL ZBTB49-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000206688.3 3 18.352332 KEEP 0 0 0 61 1869 AA 1 1 0 + 9 60 340 0 0 20.963594 275 60 9785 427 ENST00000337872.4 0.03169 1 STX18 53407 __UNKNOWN__ __UNKNOWN__ 4 4422558 4422558 __UNKNOWN__ Intron SNP A A C rs34931639 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:4422558A>C ENST00000505286.1 - 10 958 STX18_ENST00000306200.2_Intron Q9P2W9 STX18_HUMAN syntaxin 18 NA NA ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886) endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) large_intestine(1)|lung(3)|upper_aerodigestive_tract(1) 5 UCEC - Uterine corpus endometrioid carcinoma (64;0.0534) GTGCTGCGCCACGTCGCACCT 0.557 NA A||| 1022 0.204073 0.0605 0.1297 5008 , , NA 18325 0.2996 NA 0.1849 False NA ,,, NA NA NA 2504 0.3722 NA NA NA NA 0 A 357,4049 183.6+/-211.2 13,331,1859 221 164 183 -7.2 0 4 dbSNP_126 183 1777,6823 317.0+/-313.0 159,1459,2682 no intron STX18 NM_016930.2 172,1790,4541 CC,CA,AA 20.6628,8.1026,16.4078 4422558 2134,10872 2203 4300 6503 SO:0001627 intron_variant AB028741 CCDS3377.1 4p16.3-p16.2 2013-09-23 ENSG00000168818 ENSG00000168818 53407 15942 protein-coding gene gene with protein product 606046 NA 10788491 Standard NM_016930 NA Approved Ufe1 uc003gic.3 Q9P2W9 OTTHUMG00000090331 ENST00000505286.1:c.912+32T>G chr4.hg19:g.4422558A>C NA Q596L3|Q5TZP5 hg19 0.02 13.550254 GCCxCGT COVERED NOVEL STX18-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000358558.1 2 6.554835 KEEP 0 1 38 35 1081 AA 0.999999 0.999999 0 - 14 60 504 0 0 31.983985 314 60 11237 404 ENST00000505286.1 0.042683 1 STK32B 55351 __UNKNOWN__ __UNKNOWN__ 4 5500907 5500907 __UNKNOWN__ 3'UTR SNP A A T rs75777002 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:5500907A>T ENST00000282908.5 + 0 1764 STK32B_ENST00000512636.1_3'UTR|STK32B_ENST00000510398.1_3'UTR NM_018401.1 NP_060871.1 serine/threonine kinase 32B NA NA breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 39 CTCACCCCTGAAAACATCAga 0.567 NA A||| 652 0.130192 0.0113 0.1138 5008 , , NA 17090 0.4107 NA 0.0368 False NA ,,, NA NA NA 2504 0.1094 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ250839 CCDS3380.1 4p16 2009-09-30 ENSG00000152953 ENSG00000152953 55351 14217 protein-coding gene gene with protein product NA 10700184 Standard NM_018401 XM_005247982 NA Approved STKG6, YANK2, STK32, HSA250839 uc003gih.1 Q9NY57 OTTHUMG00000090423 ENST00000282908.5:c.*97A>T chr4.hg19:g.5500907A>T NA hg19 CCDS3380.1 0.02 10.068036 CTGxAAA COVERED NOVEL STK32B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000206854.4 2 10.528471 KEEP 0 0 0 35 1072 AA 0.999999 0.999999 0 + 10 60 336 0 0 19.669644 272 60 9725 378 ENST00000282908.5 0.035461 1 EVC 2121 __UNKNOWN__ __UNKNOWN__ 4 5730954 5730954 __UNKNOWN__ Intron SNP G G A rs2276875 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:5730954G>A ENST00000509451.1 + 3 466 EVC_ENST00000264956.6_Intron|EVC_ENST00000382674.2_Intron P57679 EVC_HUMAN Ellis van Creveld syndrome NA NA cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224) ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1) 28 Myeloproliferative disorder(84;0.117) CAAATGGGATGTGGCATTTTG 0.438 NA G||| 591 0.118011 0.0136 0.1282 5008 , , NA 21564 0.1369 NA 0.2545 False NA ,,, NA NA NA 2504 0.092 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF216184 CCDS3383.1 4p16 2008-07-03 ENSG00000072840 ENSG00000072840 2121 3497 protein-coding gene gene with protein product 604831 NA 10700184 Standard NM_153717 NA Approved DWF-1 uc003gil.1 P57679 OTTHUMG00000090427 ENST00000509451.1:c.301-80G>A chr4.hg19:g.5730954G>A NA hg19 0.02 4.13855 GATxTGG COVERED NOVEL EVC-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000358875.1 0 9.029551 KEEP 0 0 0 30 1072 GG 0.999997 0.999997 0 + 8 60 295 0 0 19.977807 133 60 5077 217 ENST00000509451.1 0.056738 1 CRMP1 1400 __UNKNOWN__ __UNKNOWN__ 4 5838513 5838513 __UNKNOWN__ Silent SNP C C G rs12331 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:5838513C>G ENST00000512574.1 - 10 1616 c.1083G>C c.(1081-1083)acG>acC p.T361T CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000397890.2_Silent_p.T363T|CRMP1_ENST00000324989.7_Silent_p.T477T Q14194 DPYL1_HUMAN collapsin response mediator protein 1 363 NA Missing (in Ref. 7; AAK55500). {ECO:0000305}. axon guidance (GO:0007411)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|pyrimidine nucleobase catabolic process (GO:0006208) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025) hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812) NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 36 Colorectal(103;0.0721) CCCAGACGACCGTCATCCGCT 0.582 NA G||| 2948 0.588658 0.9198 0.4035 5008 , , NA 21340 0.6002 NA 0.4066 False NA ,,, NA NA NA 2504 0.4479 NA NA NA NA 0 G , 3722,684 291.8+/-281.7 1583,556,64 140 116 124 1431,1089 -5.5 0.7 4 dbSNP_52 124 3836,4764 611.6+/-395.8 853,2130,1317 no coding-synonymous,coding-synonymous CRMP1 NM_001014809.1,NM_001313.3 , 2436,2686,1381 GG,GC,CC 44.6047,15.5243,41.8884 , 477/687,363/573 5838513 7558,5448 2203 4300 6503 SO:0001819 synonymous_variant D78012 CCDS33950.1, CCDS43207.1, CCDS75102.1 4p16.1 2008-05-15 ENSG00000072832 ENSG00000072832 1400 2365 protein-coding gene gene with protein product 602462 NA 8973361 Standard NM_001313 XM_005247940 NA Approved DRP-1, DPYSL1 uc003gis.3 Q14194 OTTHUMG00000125489 ENST00000512574.1:c.1083G>C chr4.hg19:g.5838513C>G NA A0EJG6|Q13024|Q4W5F1|Q96TC8 hg19 0.02 13.706892 GACxGTC COVERED NOVEL CRMP1-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000358870.1 1 11.543412 KEEP 0 3 102 74 2529 CC 1 1 0 - 15 60 509 0 0 30.486882 374 60 13397 599 ENST00000512574.1 0.03856 1 CRMP1 1400 __UNKNOWN__ __UNKNOWN__ 4 5843196 5843196 __UNKNOWN__ Intron SNP T T G rs2286283 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:5843196T>G ENST00000512574.1 - 8 1218 CRMP1_ENST00000511535.1_Intron|CRMP1_ENST00000397890.2_Intron|CRMP1_ENST00000324989.7_Intron Q14194 DPYL1_HUMAN collapsin response mediator protein 1 NA NA axon guidance (GO:0007411)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|pyrimidine nucleobase catabolic process (GO:0006208) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025) hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812) NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 36 Colorectal(103;0.0721) GGAAGGCTGGTGTAACAGCTA 0.537 NA G||| 1944 0.388179 0.5885 0.2896 5008 , , NA 19739 0.3304 NA 0.3628 False NA ,,, NA NA NA 2504 0.273 NA NA NA NA 0 G , 2508,1898 539.1+/-375.2 721,1066,416 78 75 76 , 1 0 4 dbSNP_100 76 3330,5270 637.9+/-399.3 635,2060,1605 no intron,intron CRMP1 NM_001014809.1,NM_001313.3 , 1356,3126,2021 GG,GT,TT 38.7209,43.0776,44.887 , , 5843196 5838,7168 2203 4300 6503 SO:0001627 intron_variant D78012 CCDS33950.1, CCDS43207.1, CCDS75102.1 4p16.1 2008-05-15 ENSG00000072832 ENSG00000072832 1400 2365 protein-coding gene gene with protein product 602462 NA 8973361 Standard NM_001313 XM_005247940 NA Approved DRP-1, DPYSL1 uc003gis.3 Q14194 OTTHUMG00000125489 ENST00000512574.1:c.685-41A>C chr4.hg19:g.5843196T>G NA A0EJG6|Q13024|Q4W5F1|Q96TC8 hg19 0.02 6.894609 TGGxGTA COVERED NOVEL CRMP1-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000358870.1 0 7.823134 KEEP 0 0 0 26 825 TT 0.999957 0.999957 0 - 8 60 295 0 0 19.617632 148 60 5335 200 ENST00000512574.1 0.051282 1 WFS1 7466 __UNKNOWN__ __UNKNOWN__ 4 6303248 6303248 __UNKNOWN__ Missense_Mutation SNP G G A rs1805069 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:6303248G>A ENST00000226760.1 + 8 1896 c.1726G>A c.(1726-1728)Ggc>Agc p.G576S WFS1_ENST00000503569.1_Missense_Mutation_p.G576S NM_001145853.1|NM_006005.3 NP_001139325.1|NP_005996.2 O76024 WFS1_HUMAN Wolfram syndrome 1 (wolframin) 576 NA G -> S (in dbSNP:rs1805069). {ECO:0000269|PubMed:10679252, ECO:0000269|PubMed:10760554}. activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601) dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176) activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625) central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 21 Colorectal(103;0.0512) CCTGGTGGCCGGCCTGGCCCT 0.667 NA G||| 112 0.0223642 0.0265 0.0101 5008 , , NA 19860 0.0694 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 GRCh37 CM032678 WFS1 M rs1805069 G SER/GLY,SER/GLY 82,4324 69.8+/-107.6 1,80,2122 67 72 71 1726,1726 4.6 1 4 dbSNP_89 71 2,8598 1.2+/-3.3 0,2,4298 yes missense,missense WFS1 NM_001145853.1,NM_006005.3 56,56 1,82,6420 AA,AG,GG 0.0233,1.8611,0.6459 possibly-damaging,possibly-damaging 576/891,576/891 6303248 84,12922 2203 4300 6503 SO:0001583 missense AF084481 CCDS3386.1 4p16.1 2014-06-18 ENSG00000109501 ENSG00000109501 7466 12762 protein-coding gene gene with protein product 606201 DFNA6, DFNA14, DFNA38 NA 7987399, 9771706 Standard NM_006005 NA Approved DIDMOAD, WFS uc003gix.3 O76024 OTTHUMG00000090431 ENST00000226760.1:c.1726G>A chr4.hg19:g.6303248G>A ENSP00000226760:p.Gly576Ser NA B2R797|D3DVT1|Q8N6I3|Q9UNW6 hg19 CCDS3386.1 0.02 23.613354 GCCxGCC COVERED 71 0.03250915750915751 17 0.034552845528455285 2 0.0055248618784530384 52 0.09090909090909091 0 0.0 G 22.6 4.306850 0.81247 0.018611 2.33E-4 ENSG00000109501 ENST00000503569;ENST00000226760 D;D 0.81659 -1.52;-1.52 4.56 4.56 0.56223 . 0.000000 0.85682 D 0.000000 T 0.17408 0.0418 M 0.76574 2.34 0.80722 D 1 P 0.46656 0.882 B 0.42995 0.404 T 0.62576 -0.6825 10 0.54805 T 0.06 -49.2392 16.5124 0.84289 0.0:0.0:1.0:0.0 rs1805069;rs3733192 576 O76024 WFS1_HUMAN S 576 ENSP00000423337:G576S;ENSP00000226760:G576S ENSP00000226760:G576S G + 1 0 WFS1 6354149 1.000000 0.71417 0.996000 0.52242 0.973000 0.67179 7.066000 0.76734 2.373000 0.80994 0.561000 0.74099 GGC NOVEL WFS1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000206863.1 3 32.498055 KEEP 0 0 0 108 3685 GG 1 1 0 + 24 60 907 0 0 60.164933 485 60 16729 738 ENST00000226760.1 0.047151 1 MRFAP1 93621 __UNKNOWN__ __UNKNOWN__ 4 6642331 6642331 __UNKNOWN__ 5'UTR SNP G G A rs3806818|rs370440573 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:6642331G>A ENST00000320912.4 + 0 514 NM_001272053.1 NP_001258982.1 Morf4 family associated protein 1 NA NA lung(1) 1 CCCGCAGCTCGCCCCCCTGAC 0.706 NA G||| 1145 0.228634 0.0832 0.232 5008 , , NA 12684 0.4147 NA 0.175 False NA ,,, NA NA NA 2504 0.2863 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF116272 CCDS3389.1 4p16.1 2011-01-27 2011-01-27 ENSG00000179010 ENSG00000179010 93621 24549 protein-coding gene gene with protein product NA 15367658 Standard NM_033296 NM_033296 NA Approved PAM14, PGR1 uc003gjh.2 Q9Y605 OTTHUMG00000125504 ENST00000320912.4:c.-140G>A chr4.hg19:g.6642331G>A NA hg19 CCDS3389.1 0.02 1.673931 CTCxCCC COVERED NOVEL MRFAP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000246831.1 0 3.611027 KEEP 0 0 0 12 391 GG 0.993634 0.993529 0 + 4 60 143 0 0 9.050357 89 60 2799 111 ENST00000320912.4 0.043011 0.999895 KIAA0232 9778 __UNKNOWN__ __UNKNOWN__ 4 6882470 6882470 __UNKNOWN__ Intron SNP A A G rs192488319 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:6882470A>G ENST00000307659.5 + 10 4463 KIAA0232_ENST00000425103.1_Intron NM_014743.2 NP_055558.2 Q92628 K0232_HUMAN KIAA0232 NA NA ATP binding (GO:0005524) breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1) 41 CCTTTTGGGGAAAAAAAAGTC 0.333 NA A||| 11 0.00219649 0.0 0.0 5008 , , NA 18614 0.0099 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 32 32 32 NA NA 4 NA 6882470 1822 4076 5898 SO:0001627 intron_variant D86985 CCDS43209.1 4p16.1 2012-11-29 ENSG00000170871 ENSG00000170871 9778 28992 protein-coding gene gene with protein product NA 9039502 Standard NM_014743 NM_014743 NA Approved uc003gjq.4 Q92628 OTTHUMG00000160072 ENST00000307659.5:c.4009-44A>G chr4.hg19:g.6882470A>G NA A7E2D2 hg19 CCDS43209.1 0.02 3.992731 GGGxAAA COVERED NOVEL KIAA0232-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000359102.2 2 9.93028 KEEP 0 0 0 33 1072 AA 0.999998 0.999998 0 + 10 60 351 0 0 24.401665 125 60 4352 185 ENST00000307659.5 0.074074 1 SORCS2 57537 __UNKNOWN__ __UNKNOWN__ 4 7743135 7743135 __UNKNOWN__ 3'UTR SNP A A G rs17382228 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:7743135A>G ENST00000507866.2 + 0 4733 NM_020777.2 NP_065828.2 Q96PQ0 SORC2_HUMAN sortilin-related VPS10 domain containing receptor 2 NA NA neuropeptide signaling pathway (GO:0007218) integral component of membrane (GO:0016021)|membrane (GO:0016020) neuropeptide receptor activity (GO:0008188) autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 42 ACGGTTTCCTAGAATCAGGGA 0.567 NA A||| 1466 0.292732 0.053 0.4769 5008 , , NA 15207 0.4167 NA 0.3429 False NA ,,, NA NA NA 2504 0.3067 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB037750 CCDS47008.1 4p16.1 2008-02-05 ENSG00000184985 ENSG00000184985 57537 16698 protein-coding gene gene with protein product 606284 NA 11499680 Standard NM_020777 NM_020777 NA Approved KIAA1329 uc003gkb.4 Q96PQ0 OTTHUMG00000159981 ENST00000507866.2:c.*1144A>G chr4.hg19:g.7743135A>G NA Q9P2L7 hg19 CCDS47008.1 0.02 4.855384 CCTxGAA COVERED NOVEL SORCS2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000358685.4 4 6.91961 KEEP 0 0 0 23 686 AA 0.999892 0.999876 0 + 9 60 303 0 0 21.317242 96 60 3428 154 ENST00000507866.2 0.085714 0.999984 SORCS2 57537 __UNKNOWN__ __UNKNOWN__ 4 7743547 7743547 __UNKNOWN__ 3'UTR SNP C C A rs10937857 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:7743547C>A ENST00000507866.2 + 0 5145 NM_020777.2 NP_065828.2 Q96PQ0 SORC2_HUMAN sortilin-related VPS10 domain containing receptor 2 NA NA neuropeptide signaling pathway (GO:0007218) integral component of membrane (GO:0016021)|membrane (GO:0016020) neuropeptide receptor activity (GO:0008188) autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 42 TGCCTCATTTCCCCTGGAAAA 0.577 NA C||| 2180 0.435304 0.5303 0.3775 5008 , , NA 17043 0.4395 NA 0.4264 False NA ,,, NA NA NA 2504 0.3528 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB037750 CCDS47008.1 4p16.1 2008-02-05 ENSG00000184985 ENSG00000184985 57537 16698 protein-coding gene gene with protein product 606284 NA 11499680 Standard NM_020777 NM_020777 NA Approved KIAA1329 uc003gkb.4 Q96PQ0 OTTHUMG00000159981 ENST00000507866.2:c.*1556C>A chr4.hg19:g.7743547C>A NA Q9P2L7 hg19 CCDS47008.1 0.02 6.296077 TTTxCCC COVERED NOVEL SORCS2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000358685.4 0 7.223255 KEEP 0 0 0 24 844 CC 0.999909 0.999909 0 + 8 60 266 0 0 16.784867 148 70 5497 229 ENST00000507866.2 0.051282 1 AFAP1 60312 __UNKNOWN__ __UNKNOWN__ 4 7761114 7761114 __UNKNOWN__ 3'UTR SNP G G A rs2285771 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:7761114G>A ENST00000360265.4 - 0 6805 AFAP1-AS1_ENST00000608442.1_RNA|AFAP1_ENST00000358461.2_3'UTR|AFAP1_ENST00000420658.1_3'UTR Q8N556 AFAP1_HUMAN actin filament associated protein 1 NA NA cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925) NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2) 32 ACCACTTCCTGGGTGCAGTTT 0.512 NA a||| 1354 0.270367 0.3094 0.1643 5008 , , NA 17518 0.4722 NA 0.0964 False NA ,,, NA NA NA 2504 0.2638 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB209676 CCDS3397.1, CCDS47010.1 4p16 2014-02-12 2007-02-07 ENSG00000196526 ENSG00000196526 60312 Pleckstrin homology (PH) domain containing 24017 protein-coding gene gene with protein product 608252 NA 14755689, 11641786, 11607843 Standard NM_021638 NM_198595 NA Approved AFAP-110, AFAP uc011bwk.1 Q8N556 OTTHUMG00000125515 ENST00000360265.4:c.*4378C>T chr4.hg19:g.7761114G>A NA A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1 hg19 CCDS3397.1 0.02 7.782865 CCTxGGT COVERED NOVEL AFAP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000246842.2 0 18.647969 KEEP 0 0 0 62 2148 GG 1 1 0 - 7 60 247 0 0 14.361147 229 60 8662 358 ENST00000360265.4 0.029661 1 AFAP1 60312 __UNKNOWN__ __UNKNOWN__ 4 7761211 7761211 __UNKNOWN__ 3'UTR SNP C C T rs2285770 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:7761211C>T ENST00000360265.4 - 0 6708 AFAP1-AS1_ENST00000608442.1_RNA|AFAP1_ENST00000358461.2_3'UTR|AFAP1_ENST00000420658.1_3'UTR Q8N556 AFAP1_HUMAN actin filament associated protein 1 NA NA cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925) NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2) 32 CACGTATTTACGGCAGGAACG 0.458 NA C||| 992 0.198083 0.0537 0.1412 5008 , , NA 18851 0.4663 NA 0.0954 False NA ,,, NA NA NA 2504 0.2628 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB209676 CCDS3397.1, CCDS47010.1 4p16 2014-02-12 2007-02-07 ENSG00000196526 ENSG00000196526 60312 Pleckstrin homology (PH) domain containing 24017 protein-coding gene gene with protein product 608252 NA 14755689, 11641786, 11607843 Standard NM_021638 NM_198595 NA Approved AFAP-110, AFAP uc011bwk.1 Q8N556 OTTHUMG00000125515 ENST00000360265.4:c.*4281G>A chr4.hg19:g.7761211C>T NA A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1 hg19 CCDS3397.1 0.02 5.918681 TTAxGGC COVERED NOVEL AFAP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000246842.2 1 12.940289 KEEP 0 0 0 43 1435 CC 1 1 0 - 6 60 223 0 0 13.491329 192 60 6680 281 ENST00000360265.4 0.030303 1 AFAP1 60312 __UNKNOWN__ __UNKNOWN__ 4 7761567 7761567 __UNKNOWN__ 3'UTR SNP C C G rs4689162 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:7761567C>G ENST00000360265.4 - 0 6352 AFAP1-AS1_ENST00000608442.1_RNA|AFAP1_ENST00000358461.2_3'UTR|AFAP1_ENST00000420658.1_3'UTR Q8N556 AFAP1_HUMAN actin filament associated protein 1 NA NA cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925) NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2) 32 CGGCCCCGCCCTGTGGCACAA 0.587 NA C||| 995 0.198682 0.0537 0.1412 5008 , , NA 18869 0.4692 NA 0.0954 False NA ,,, NA NA NA 2504 0.2628 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB209676 CCDS3397.1, CCDS47010.1 4p16 2014-02-12 2007-02-07 ENSG00000196526 ENSG00000196526 60312 Pleckstrin homology (PH) domain containing 24017 protein-coding gene gene with protein product 608252 NA 14755689, 11641786, 11607843 Standard NM_021638 NM_198595 NA Approved AFAP-110, AFAP uc011bwk.1 Q8N556 OTTHUMG00000125515 ENST00000360265.4:c.*3925G>C chr4.hg19:g.7761567C>G NA A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1 hg19 CCDS3397.1 0.02 4.031026 GCCxTGT COVERED NOVEL AFAP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000246842.2 0 9.029121 KEEP 0 0 0 30 1054 CC 0.999997 0.999997 0 - 7 60 238 0 0 15.036116 135 60 5009 201 ENST00000360265.4 0.049296 1 AFAP1 60312 __UNKNOWN__ __UNKNOWN__ 4 7762675 7762675 __UNKNOWN__ 3'UTR SNP C C T rs2285767 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:7762675C>T ENST00000360265.4 - 0 5244 AFAP1-AS1_ENST00000608442.1_RNA|AFAP1_ENST00000358461.2_3'UTR|AFAP1_ENST00000420658.1_3'UTR Q8N556 AFAP1_HUMAN actin filament associated protein 1 NA NA cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925) NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2) 32 CGAAGAAATCCGGCTTCTCCG 0.597 NA C||| 1000 0.199681 0.0537 0.1412 5008 , , NA 14851 0.4732 NA 0.0954 False NA ,,, NA NA NA 2504 0.2638 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB209676 CCDS3397.1, CCDS47010.1 4p16 2014-02-12 2007-02-07 ENSG00000196526 ENSG00000196526 60312 Pleckstrin homology (PH) domain containing 24017 protein-coding gene gene with protein product 608252 NA 14755689, 11641786, 11607843 Standard NM_021638 NM_198595 NA Approved AFAP-110, AFAP uc011bwk.1 Q8N556 OTTHUMG00000125515 ENST00000360265.4:c.*2817G>A chr4.hg19:g.7762675C>T NA A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1 hg19 CCDS3397.1 0.02 14.60122 ATCxGGC COVERED NOVEL AFAP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000246842.2 1 27.988891 KEEP 0 0 0 93 3183 CC 1 1 0 - 17 60 655 0 0 44.721148 305 60 10489 530 ENST00000360265.4 0.052795 1 AFAP1 60312 __UNKNOWN__ __UNKNOWN__ 4 7765043 7765043 __UNKNOWN__ 3'UTR SNP G G A rs2240055 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:7765043G>A ENST00000360265.4 - 0 2876 AFAP1-AS1_ENST00000608442.1_RNA|AFAP1_ENST00000358461.2_3'UTR|AFAP1_ENST00000420658.1_3'UTR Q8N556 AFAP1_HUMAN actin filament associated protein 1 NA NA cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925) NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2) 32 CGTGCAAGGCGAGCCCAGTGC 0.642 NA G||| 908 0.18131 0.053 0.1441 5008 , , NA 13437 0.3859 NA 0.0944 False NA ,,, NA NA NA 2504 0.2597 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB209676 CCDS3397.1, CCDS47010.1 4p16 2014-02-12 2007-02-07 ENSG00000196526 ENSG00000196526 60312 Pleckstrin homology (PH) domain containing 24017 protein-coding gene gene with protein product 608252 NA 14755689, 11641786, 11607843 Standard NM_021638 NM_198595 NA Approved AFAP-110, AFAP uc011bwk.1 Q8N556 OTTHUMG00000125515 ENST00000360265.4:c.*449C>T chr4.hg19:g.7765043G>A NA A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1 hg19 CCDS3397.1 0.02 10.816386 GGCxAGC COVERED NOVEL AFAP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000246842.2 3 22.562346 KEEP 0 0 0 75 2536 GG 1 1 0 - 17 60 622 0 0 42.009994 281 60 9675 441 ENST00000360265.4 0.057047 1 AFAP1 60312 __UNKNOWN__ __UNKNOWN__ 4 7765193 7765193 __UNKNOWN__ 3'UTR SNP A A G rs2240054 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:7765193A>G ENST00000360265.4 - 0 2726 AFAP1-AS1_ENST00000608442.1_RNA|AFAP1_ENST00000358461.2_3'UTR|AFAP1_ENST00000420658.1_3'UTR Q8N556 AFAP1_HUMAN actin filament associated protein 1 NA NA cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925) NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2) 32 GCAATGGCCTATCTGGTTAGA 0.453 NA A||| 1356 0.270767 0.3676 0.1744 5008 , , NA 19611 0.3948 NA 0.0954 False NA ,,, NA NA NA 2504 0.2607 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB209676 CCDS3397.1, CCDS47010.1 4p16 2014-02-12 2007-02-07 ENSG00000196526 ENSG00000196526 60312 Pleckstrin homology (PH) domain containing 24017 protein-coding gene gene with protein product 608252 NA 14755689, 11641786, 11607843 Standard NM_021638 NM_198595 NA Approved AFAP-110, AFAP uc011bwk.1 Q8N556 OTTHUMG00000125515 ENST00000360265.4:c.*299T>C chr4.hg19:g.7765193A>G NA A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1 hg19 CCDS3397.1 0.02 12.194851 CCTxTCT COVERED NOVEL AFAP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000246842.2 2 16.246751 KEEP 0 0 0 54 1649 AA 1 1 0 - 16 60 604 0 0 41.747255 251 60 9085 387 ENST00000360265.4 0.059925 1 AFAP1 60312 __UNKNOWN__ __UNKNOWN__ 4 7765495 7765495 __UNKNOWN__ Silent SNP G G T rs2240053 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:7765495G>T ENST00000360265.4 - 16 2424 c.2190C>A c.(2188-2190)acC>acA p.T730T AFAP1-AS1_ENST00000608442.1_RNA|AFAP1_ENST00000513842.1_5'UTR|AFAP1_ENST00000358461.2_Silent_p.T730T|AFAP1_ENST00000420658.1_Silent_p.T814T|AFAP1_ENST00000382543.3_Silent_p.T814T Q8N556 AFAP1_HUMAN actin filament associated protein 1 730 NA cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925) NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2) 32 CTGTCCCCTAGGTCCCGTTCT 0.572 NA T||| 1209 0.241414 0.2685 0.1628 5008 , , NA 17435 0.3899 NA 0.0924 False NA ,,, NA NA NA 2504 0.2607 NA NA NA NA 0 T , 879,3319 83,713,1303 156 120 132 2442,2190 -8.6 0 4 dbSNP_98 132 609,7517 19,571,3473 no coding-synonymous,coding-synonymous AFAP1 NM_001134647.1,NM_198595.2 , 102,1284,4776 TT,TG,GG 7.4945,20.9385,12.074 , 814/815,730/731 7765495 1488,10836 2099 4063 6162 SO:0001819 synonymous_variant AB209676 CCDS3397.1, CCDS47010.1 4p16 2014-02-12 2007-02-07 ENSG00000196526 ENSG00000196526 60312 Pleckstrin homology (PH) domain containing 24017 protein-coding gene gene with protein product 608252 NA 14755689, 11641786, 11607843 Standard NM_021638 NM_198595 NA Approved AFAP-110, AFAP uc011bwk.1 Q8N556 OTTHUMG00000125515 ENST00000360265.4:c.2190C>A chr4.hg19:g.7765495G>T NA A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1 hg19 CCDS3397.1 0.02 8.469738 CTAxGTC COVERED NOVEL AFAP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000246842.2 2 17.155164 KEEP 0 0 0 57 2001 GG 1 1 0 - 13 60 462 0 0 30.813585 213 60 7960 352 ENST00000360265.4 0.057522 1 AFAP1 60312 __UNKNOWN__ __UNKNOWN__ 4 7765617 7765617 __UNKNOWN__ Intron SNP C C T rs55817815 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:7765617C>T ENST00000360265.4 - 16 2401 AFAP1-AS1_ENST00000608442.1_RNA|AFAP1_ENST00000513842.1_Intron|AFAP1_ENST00000358461.2_Intron|AFAP1_ENST00000420658.1_Intron|AFAP1_ENST00000382543.3_Intron Q8N556 AFAP1_HUMAN actin filament associated protein 1 NA NA cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925) NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2) 32 GGTGGGTGCTCGGCTACTGca 0.517 NA C||| 1215 0.242612 0.2663 0.1628 5008 , , NA 19952 0.3899 NA 0.0924 False NA ,,, NA NA NA 2504 0.2699 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB209676 CCDS3397.1, CCDS47010.1 4p16 2014-02-12 2007-02-07 ENSG00000196526 ENSG00000196526 60312 Pleckstrin homology (PH) domain containing 24017 protein-coding gene gene with protein product 608252 NA 14755689, 11641786, 11607843 Standard NM_021638 NM_198595 NA Approved AFAP-110, AFAP uc011bwk.1 Q8N556 OTTHUMG00000125515 ENST00000360265.4:c.2167-99G>A chr4.hg19:g.7765617C>T NA A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1 hg19 CCDS3397.1 0.02 4.097152 GCTxGGC COVERED NOVEL AFAP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000246842.2 1 7.522859 KEEP 0 0 0 25 797 CC 0.999931 0.99993 0 - 10 60 363 0 0 26.052237 112 60 3675 164 ENST00000360265.4 0.081967 0.999999 AFAP1 60312 __UNKNOWN__ __UNKNOWN__ 4 7770723 7770723 __UNKNOWN__ Silent SNP G G T rs2285761 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:7770723G>T ENST00000360265.4 - 15 2248 c.2014C>A c.(2014-2016)Cgg>Agg p.R672R AFAP1-AS1_ENST00000608442.1_RNA|AFAP1_ENST00000513842.1_5'UTR|AFAP1_ENST00000358461.2_Silent_p.R672R|AFAP1_ENST00000420658.1_Silent_p.R756R|AFAP1_ENST00000382543.3_Silent_p.R756R Q8N556 AFAP1_HUMAN actin filament associated protein 1 672 NA cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925) NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2) 32 GTCCGGTGCCGGAACACTGGA 0.557 NA T||| 1854 0.370208 0.264 0.3372 5008 , , NA 16548 0.6567 NA 0.1849 False NA ,,, NA NA NA 2504 0.4325 NA NA NA NA 0 T , 1053,3353 708.6+/-407.6 127,799,1277 75 90 85 2266,2014 1 0.1 4 dbSNP_100 85 1652,6948 736.1+/-407.0 175,1302,2823 no coding-synonymous,coding-synonymous AFAP1 NM_001134647.1,NM_198595.2 , 302,2101,4100 TT,TG,GG 19.2093,23.8992,20.7981 , 756/815,672/731 7770723 2705,10301 2203 4300 6503 SO:0001819 synonymous_variant AB209676 CCDS3397.1, CCDS47010.1 4p16 2014-02-12 2007-02-07 ENSG00000196526 ENSG00000196526 60312 Pleckstrin homology (PH) domain containing 24017 protein-coding gene gene with protein product 608252 NA 14755689, 11641786, 11607843 Standard NM_021638 NM_198595 NA Approved AFAP-110, AFAP uc011bwk.1 Q8N556 OTTHUMG00000125515 ENST00000360265.4:c.2014C>A chr4.hg19:g.7770723G>T NA A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1 hg19 CCDS3397.1 0.02 6.428438 GCCxGAA COVERED NOVEL AFAP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000246842.2 2 24.377946 KEEP 0 0 0 81 2785 GG 1 1 0 - 7 60 261 0 0 16.680609 168 60 5937 331 ENST00000360265.4 0.04 1 AFAP1 60312 __UNKNOWN__ __UNKNOWN__ 4 7783286 7783286 __UNKNOWN__ Intron SNP G G A rs10516189 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:7783286G>A ENST00000360265.4 - 12 1765 AFAP1_ENST00000513842.1_5'UTR|AFAP1_ENST00000358461.2_Intron|AFAP1_ENST00000420658.1_Silent_p.N533N|AFAP1_ENST00000382543.3_Silent_p.N533N Q8N556 AFAP1_HUMAN actin filament associated protein 1 NA NA cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925) NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2) 32 ACAGGCCTGCGTTATCATAAA 0.537 NA G||| 1027 0.205072 0.1029 0.1484 5008 , , NA 17548 0.4613 NA 0.0895 False NA ,,, NA NA NA 2504 0.2382 NA NA NA NA 0 G , 112,1272 6,100,586 133 121 125 1599, 4.1 1 4 dbSNP_119 125 253,2929 8,237,1346 no coding-synonymous,intron AFAP1 NM_001134647.1,NM_198595.2 , 14,337,1932 AA,AG,GG 7.951,8.0925,7.9939 , 533/815, 7783286 365,4201 692 1591 2283 SO:0001627 intron_variant AB209676 CCDS3397.1, CCDS47010.1 4p16 2014-02-12 2007-02-07 ENSG00000196526 ENSG00000196526 60312 Pleckstrin homology (PH) domain containing 24017 protein-coding gene gene with protein product 608252 NA 14755689, 11641786, 11607843 Standard NM_021638 NM_198595 NA Approved AFAP-110, AFAP uc011bwk.1 Q8N556 OTTHUMG00000125515 ENST00000360265.4:c.1531-2683C>T chr4.hg19:g.7783286G>A NA A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1 hg19 CCDS3397.1 0.02 8.68246 TGCxTTA COVERED NOVEL AFAP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000246842.2 0 18.959113 KEEP 0 0 0 63 2127 GG 1 1 0 - 9 60 323 0 0 20.007188 227 60 7853 371 ENST00000360265.4 0.038136 1 AFAP1 60312 __UNKNOWN__ __UNKNOWN__ 4 7787899 7787899 __UNKNOWN__ Intron SNP A A G rs16841246 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:7787899A>G ENST00000360265.4 - 11 1765 AFAP1_ENST00000513842.1_Intron|AFAP1_ENST00000358461.2_Intron|AFAP1_ENST00000420658.1_Intron|AFAP1_ENST00000382543.3_Intron Q8N556 AFAP1_HUMAN actin filament associated protein 1 NA NA cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925) NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2) 32 ACCAACCATTACTCCAAAAAA 0.522 NA A||| 1033 0.20627 0.1029 0.1499 5008 , , NA 17047 0.4633 NA 0.0895 False NA ,,, NA NA NA 2504 0.2413 NA NA NA NA 0 A , 380,4026 190.9+/-216.7 15,350,1838 61 64 63 , -5.6 0 4 dbSNP_123 63 698,7902 173.3+/-223.8 32,634,3634 no intron,intron AFAP1 NM_001134647.1,NM_198595.2 , 47,984,5472 GG,GA,AA 8.1163,8.6246,8.2885 , , 7787899 1078,11928 2203 4300 6503 SO:0001627 intron_variant AB209676 CCDS3397.1, CCDS47010.1 4p16 2014-02-12 2007-02-07 ENSG00000196526 ENSG00000196526 60312 Pleckstrin homology (PH) domain containing 24017 protein-coding gene gene with protein product 608252 NA 14755689, 11641786, 11607843 Standard NM_021638 NM_198595 NA Approved AFAP-110, AFAP uc011bwk.1 Q8N556 OTTHUMG00000125515 ENST00000360265.4:c.1530+21T>C chr4.hg19:g.7787899A>G NA A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1 hg19 CCDS3397.1 0.02 -0.42981 ATTxCTC COVERED NOVEL AFAP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000246842.2 0 4.513045 KEEP 0 0 0 15 463 AA 0.997832 0.952421 0 - 3 60 107 0 0 7.23231 46 60 1606 67 ENST00000360265.4 0.061224 0.954491 AFAP1 60312 __UNKNOWN__ __UNKNOWN__ 4 7795509 7795509 __UNKNOWN__ Silent SNP G G A rs78604008 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:7795509G>A ENST00000360265.4 - 10 1545 c.1311C>T c.(1309-1311)ctC>ctT p.L437L AFAP1_ENST00000513842.1_5'UTR|AFAP1_ENST00000358461.2_Silent_p.L437L|AFAP1_ENST00000420658.1_Silent_p.L437L|AFAP1_ENST00000382543.3_Silent_p.L437L Q8N556 AFAP1_HUMAN actin filament associated protein 1 437 PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}. NA cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925) NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2) 32 CCGTCTCTGCGAGTAAAATCC 0.448 NA g||| 20 0.00399361 0.0 0.0 5008 , , NA 19034 0.0188 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 149 148 149 NA NA 4 NA 7795509 2203 4300 6503 SO:0001819 synonymous_variant AB209676 CCDS3397.1, CCDS47010.1 4p16 2014-02-12 2007-02-07 ENSG00000196526 ENSG00000196526 60312 Pleckstrin homology (PH) domain containing 24017 protein-coding gene gene with protein product 608252 NA 14755689, 11641786, 11607843 Standard NM_021638 NM_198595 NA Approved AFAP-110, AFAP uc011bwk.1 Q8N556 OTTHUMG00000125515 ENST00000360265.4:c.1311C>T chr4.hg19:g.7795509G>A NA A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1 hg19 CCDS3397.1 0.02 3.879935 TGCxAGT COVERED NOVEL AFAP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000246842.2 1 12.338864 KEEP 0 0 0 41 1391 GG 1 0.999999 0 - 5 60 182 0 0 11.472342 120 60 4231 210 ENST00000360265.4 0.04 0.999999 ABLIM2 84448 __UNKNOWN__ __UNKNOWN__ 4 7968280 7968280 __UNKNOWN__ 3'UTR SNP C C T rs2292737 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:7968280C>T ENST00000447017.2 - 0 2394 ABLIM2_ENST00000341937.5_3'UTR|ABLIM2_ENST00000545242.1_3'UTR|ABLIM2_ENST00000407564.3_3'UTR|ABLIM2_ENST00000361737.5_3'UTR|ABLIM2_ENST00000361581.5_3'UTR|ABLIM2_ENST00000546334.1_3'UTR|ABLIM2_ENST00000514025.1_3'UTR|ABLIM2_ENST00000296372.8_3'UTR|ABLIM2_ENST00000318888.4_3'UTR NM_001130083.1 NP_001123555.1 Q6H8Q1 ABLM2_HUMAN actin binding LIM protein family, member 2 NA NA actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351) actin cytoskeleton (GO:0015629)|myofibril (GO:0030016) zinc ion binding (GO:0008270) NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1) 25 GCCCAGGCTCCGAAGGGCCGT 0.637 NA C||| 1757 0.350839 0.1316 0.3329 5008 , , NA 12356 0.6379 NA 0.2584 False NA ,,, NA NA NA 2504 0.4591 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB058711 CCDS47011.1, CCDS47012.1, CCDS47013.1, CCDS47014.1, CCDS47015.1, CCDS47016.1, CCDS54719.1, CCDS68669.1 4p16.1 2012-05-16 ENSG00000163995 ENSG00000163995 84448 19195 protein-coding gene gene with protein product 612544 actin binding LIM protein 2 NA Standard NM_001130083 NM_001130083 NA Approved KIAA1808 uc003gkj.4 Q6H8Q1 OTTHUMG00000057427 ENST00000447017.2:c.*437G>A chr4.hg19:g.7968280C>T NA E9PF39|Q08E71|Q19VH0|Q6H8Q0|Q6NX73|Q8N3C5|Q8N9E9|Q8N9G2|Q96JL7 hg19 CCDS47014.1 0.02 15.615536 CTCxGAA COVERED NOVEL ABLIM2-016 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000363013.2 0 45.142517 KEEP 0 0 0 150 5064 CC 1 1 0 - 18 60 586 0 0 35.687171 369 60 12579 651 ENST00000447017.2 0.046512 1 ABLIM2 84448 __UNKNOWN__ __UNKNOWN__ 4 7985392 7985392 __UNKNOWN__ Intron SNP C C G rs4696933 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:7985392C>G ENST00000447017.2 - 19 1755 ABLIM2_ENST00000341937.5_Intron|ABLIM2_ENST00000545242.1_Intron|ABLIM2_ENST00000407564.3_Intron|ABLIM2_ENST00000361737.5_Intron|ABLIM2_ENST00000361581.5_Intron|ABLIM2_ENST00000546334.1_Intron|ABLIM2_ENST00000505872.1_Intron|ABLIM2_ENST00000514025.1_Intron|ABLIM2_ENST00000296372.8_Intron|ABLIM2_ENST00000318888.4_Intron NM_001130083.1 NP_001123555.1 Q6H8Q1 ABLM2_HUMAN actin binding LIM protein family, member 2 NA NA actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351) actin cytoskeleton (GO:0015629)|myofibril (GO:0030016) zinc ion binding (GO:0008270) NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1) 25 CCTGCAGTCACCTGGGCCATG 0.627 NA G||| 1717 0.342851 0.4773 0.3545 5008 , , NA 18186 0.38 NA 0.2117 False NA ,,, NA NA NA 2504 0.2495 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB058711 CCDS47011.1, CCDS47012.1, CCDS47013.1, CCDS47014.1, CCDS47015.1, CCDS47016.1, CCDS54719.1, CCDS68669.1 4p16.1 2012-05-16 ENSG00000163995 ENSG00000163995 84448 19195 protein-coding gene gene with protein product 612544 actin binding LIM protein 2 NA Standard NM_001130083 NM_001130083 NA Approved KIAA1808 uc003gkj.4 Q6H8Q1 OTTHUMG00000057427 ENST00000447017.2:c.1736-111G>C chr4.hg19:g.7985392C>G NA E9PF39|Q08E71|Q19VH0|Q6H8Q0|Q6NX73|Q8N3C5|Q8N9E9|Q8N9G2|Q96JL7 hg19 CCDS47014.1 0.02 4.577511 TCAxCTG COVERED NOVEL ABLIM2-016 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000363013.2 1 8.426402 KEEP 0 0 0 28 961 CC 0.999997 0.999997 0 - 12 60 448 1 0 32.447636 136 60 4832 195 ENST00000447017.2 0.081081 1 RP11-774O3.3 0 __UNKNOWN__ __UNKNOWN__ 4 8358361 8358361 __UNKNOWN__ lincRNA SNP G G A rs3733532 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:8358361G>A ENST00000505448.3 - 0 1704 NA NA NA CAGGTGAGAGGAAGAAAGTGT 0.502 NA G||| 1017 0.203075 0.1135 0.245 5008 , , NA 28840 0.2242 NA 0.2525 False NA ,,, NA NA NA 2504 0.2219 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000505448.3: chr4.hg19:g.8358361G>A NA hg19 0.02 22.963607 GAGxAAG COVERED NOVEL RP11-774O3.3-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000359029.5 7 22.873124 KEEP 0 0 0 76 2601 GG 1 1 0 - 34 60 1192 0 0 79.186585 548 60 20224 733 ENST00000505448.3 0.058419 1 CPZ 8532 __UNKNOWN__ __UNKNOWN__ 4 8601298 8601298 __UNKNOWN__ Intron SNP G G A rs11723641 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:8601298G>A ENST00000315782.6 + 2 166 CPZ_ENST00000506287.1_3'UTR|CPZ_ENST00000382480.2_5'UTR|CPZ_ENST00000360986.4_Intron NM_003652.3 NP_003643 Q66K79 CBPZ_HUMAN carboxypeptidase Z NA NA proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055) extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578) metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270) cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 AGCTGAATCCGTGATTTCAGA 0.493 NA G||| 1645 0.328474 0.3858 0.4135 5008 , , NA 19219 0.3244 NA 0.3191 False NA ,,, NA NA NA 2504 0.2045 NA NA NA NA 0 G ,, 551,833 113,325,254 35 39 38 ,, -4.4 0 4 dbSNP_120 38 1065,2117 171,723,697 no intron,utr-5,intron CPZ NM_001014447.2,NM_001014448.2,NM_003652.3 ,, 284,1048,951 AA,AG,GG 33.4695,39.8121,35.392 ,, ,, 8601298 1616,2950 692 1591 2283 SO:0001627 intron_variant U83411 CCDS3404.1, CCDS33953.1, CCDS43212.1 4p16.1 2012-02-10 ENSG00000109625 ENSG00000109625 8532 2333 protein-coding gene gene with protein product metallocarboxypeptidase Z 603105 NA 9099699 Standard NM_003652 NM_001014447 NA Approved uc003glm.3 Q66K79 OTTHUMG00000090513 ENST00000315782.6:c.89-1552G>A chr4.hg19:g.8601298G>A NA O00520|Q96MX2 hg19 CCDS3404.1 0.02 8.980212 TCCxTGA COVERED NOVEL CPZ-001 NOVEL basic|appris_candidate|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000359214.1 4 30.094941 KEEP 0 0 0 100 3397 GG 1 1 0 + 10 60 377 0 0 24.498521 226 60 8182 440 ENST00000315782.6 0.042373 1 CPZ 8532 __UNKNOWN__ __UNKNOWN__ 4 8601381 8601381 __UNKNOWN__ Intron SNP A A G rs7671320 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:8601381A>G ENST00000315782.6 + 2 166 CPZ_ENST00000506287.1_Intron|CPZ_ENST00000382480.2_Intron|CPZ_ENST00000360986.4_Intron NM_003652.3 NP_003643 Q66K79 CBPZ_HUMAN carboxypeptidase Z NA NA proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055) extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578) metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270) cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 AAAATTAGACATAACAAAAAA 0.493 NA A||| 1319 0.263379 0.3185 0.3862 5008 , , NA 19737 0.2788 NA 0.2495 False NA ,,, NA NA NA 2504 0.1002 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U83411 CCDS3404.1, CCDS33953.1, CCDS43212.1 4p16.1 2012-02-10 ENSG00000109625 ENSG00000109625 8532 2333 protein-coding gene gene with protein product metallocarboxypeptidase Z 603105 NA 9099699 Standard NM_003652 NM_001014447 NA Approved uc003glm.3 Q66K79 OTTHUMG00000090513 ENST00000315782.6:c.89-1469A>G chr4.hg19:g.8601381A>G NA O00520|Q96MX2 hg19 CCDS3404.1 0.02 3.944505 GACxTAA COVERED NOVEL CPZ-001 NOVEL basic|appris_candidate|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000359214.1 1 15.044644 KEEP 0 0 0 50 1547 AA 1 1 0 + 7 60 246 0 0 16.130981 122 60 4467 220 ENST00000315782.6 0.054264 1 CPZ 8532 __UNKNOWN__ __UNKNOWN__ 4 8605818 8605818 __UNKNOWN__ Silent SNP C C T rs6852001 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:8605818C>T ENST00000315782.6 + 3 657 c.579C>T c.(577-579)tgC>tgT p.C193C CPZ_ENST00000429646.2_5'UTR|CPZ_ENST00000382480.2_Silent_p.C67C|CPZ_ENST00000360986.4_Silent_p.C204C NM_003652.3 NP_003643 Q66K79 CBPZ_HUMAN carboxypeptidase Z 204 NA proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055) extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578) metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270) cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 CCTCCCGCTGCGCCCACGTGG 0.692 NA C||| 807 0.161142 0.0204 0.1988 5008 , , NA 16720 0.2976 NA 0.2465 False NA ,,, NA NA NA 2504 0.0961 NA NA NA NA 0 C ,, 237,4125 10,217,1954 19 16 17 612,201,579 1 1 4 dbSNP_116 17 2178,6368 284,1610,2379 no coding-synonymous,coding-synonymous,coding-synonymous CPZ NM_001014447.2,NM_001014448.2,NM_003652.3 ,, 294,1827,4333 TT,TC,CC 25.4856,5.4333,18.7093 ,, 204/653,67/516,193/642 8605818 2415,10493 2181 4273 6454 SO:0001819 synonymous_variant U83411 CCDS3404.1, CCDS33953.1, CCDS43212.1 4p16.1 2012-02-10 ENSG00000109625 ENSG00000109625 8532 2333 protein-coding gene gene with protein product metallocarboxypeptidase Z 603105 NA 9099699 Standard NM_003652 NM_001014447 NA Approved uc003glm.3 Q66K79 OTTHUMG00000090513 ENST00000315782.6:c.579C>T chr4.hg19:g.8605818C>T NA O00520|Q96MX2 hg19 CCDS3404.1 0.02 4.235282 CTGxGCC COVERED NOVEL CPZ-001 NOVEL basic|appris_candidate|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000359214.1 0 14.677241 KEEP 0 1 32 60 1974 CC 1 1 0 + 9 60 335 0 0 23.5905 121 60 4044 243 ENST00000315782.6 0.069231 1 CPZ 8532 __UNKNOWN__ __UNKNOWN__ 4 8613026 8613026 __UNKNOWN__ Intron SNP G G A rs3796727 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:8613026G>A ENST00000315782.6 + 7 1272 CPZ_ENST00000429646.2_Intron|CPZ_ENST00000382480.2_Intron|CPZ_ENST00000360986.4_Intron NM_003652.3 NP_003643 Q66K79 CBPZ_HUMAN carboxypeptidase Z NA NA proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055) extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578) metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270) cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 ACGGCCCAGAGCCCCCACAAA 0.652 NA A||| 1433 0.286142 0.3986 0.2464 5008 , , NA 17303 0.3393 NA 0.2952 False NA ,,, NA NA NA 2504 0.0982 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U83411 CCDS3404.1, CCDS33953.1, CCDS43212.1 4p16.1 2012-02-10 ENSG00000109625 ENSG00000109625 8532 2333 protein-coding gene gene with protein product metallocarboxypeptidase Z 603105 NA 9099699 Standard NM_003652 NM_001014447 NA Approved uc003glm.3 Q66K79 OTTHUMG00000090513 ENST00000315782.6:c.1195-728G>A chr4.hg19:g.8613026G>A NA O00520|Q96MX2 hg19 CCDS3404.1 0.02 1.898222 AGAxCCC COVERED NOVEL CPZ-001 NOVEL basic|appris_candidate|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000359214.1 1 8.427846 KEEP 0 0 0 28 1024 GG 0.999997 0.999832 0 + 7 60 229 0 0 15.576946 83 60 3148 138 ENST00000315782.6 0.077778 0.999835 CPZ 8532 __UNKNOWN__ __UNKNOWN__ 4 8613688 8613688 __UNKNOWN__ Intron SNP T T C rs2302575 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:8613688T>C ENST00000315782.6 + 7 1272 CPZ_ENST00000429646.2_Intron|CPZ_ENST00000382480.2_Intron|CPZ_ENST00000360986.4_Intron NM_003652.3 NP_003643 Q66K79 CBPZ_HUMAN carboxypeptidase Z NA NA proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055) extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578) metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270) cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 CTCCCCTCATTGACCCCAGCT 0.572 NA T||| 389 0.0776757 0.0386 0.0086 5008 , , NA 14535 0.2758 NA 0.005 False NA ,,, NA NA NA 2504 0.0501 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U83411 CCDS3404.1, CCDS33953.1, CCDS43212.1 4p16.1 2012-02-10 ENSG00000109625 ENSG00000109625 8532 2333 protein-coding gene gene with protein product metallocarboxypeptidase Z 603105 NA 9099699 Standard NM_003652 NM_001014447 NA Approved uc003glm.3 Q66K79 OTTHUMG00000090513 ENST00000315782.6:c.1195-66T>C chr4.hg19:g.8613688T>C NA O00520|Q96MX2 hg19 CCDS3404.1 0.02 2.595968 CATxGAC COVERED NOVEL CPZ-001 NOVEL basic|appris_candidate|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000359214.1 0 4.511707 KEEP 0 0 0 15 433 TT 0.99649 0.976088 0 + 6 60 231 0 0 17.682609 50 60 1801 83 ENST00000315782.6 0.107143 0.979526 CPZ 8532 __UNKNOWN__ __UNKNOWN__ 4 8613786 8613786 __UNKNOWN__ Silent SNP C C T rs2302574 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:8613786C>T ENST00000315782.6 + 7 1305 c.1227C>T c.(1225-1227)gaC>gaT p.D409D CPZ_ENST00000429646.2_Silent_p.D28D|CPZ_ENST00000382480.2_Silent_p.D283D|CPZ_ENST00000360986.4_Silent_p.D420D NM_003652.3 NP_003643 Q66K79 CBPZ_HUMAN carboxypeptidase Z 420 NA proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055) extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578) metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270) p.D420D(1) cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 CCTACGCTGACGTCCACCCCA 0.557 NA C||| 333 0.0664936 0.0 0.0029 5008 , , NA 13459 0.2748 NA 0.005 False NA ,,, NA NA NA 2504 0.0501 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) C ,, 9,4397 15.5+/-35.6 0,9,2194 77 66 69 1260,849,1227 -8.2 0 4 dbSNP_100 69 24,8574 16.6+/-54.9 0,24,4275 no coding-synonymous,coding-synonymous,coding-synonymous CPZ NM_001014447.2,NM_001014448.2,NM_003652.3 ,, 0,33,6469 TT,TC,CC 0.2791,0.2043,0.2538 ,, 420/653,283/516,409/642 8613786 33,12971 2203 4299 6502 SO:0001819 synonymous_variant U83411 CCDS3404.1, CCDS33953.1, CCDS43212.1 4p16.1 2012-02-10 ENSG00000109625 ENSG00000109625 8532 2333 protein-coding gene gene with protein product metallocarboxypeptidase Z 603105 NA 9099699 Standard NM_003652 NM_001014447 NA Approved uc003glm.3 Q66K79 OTTHUMG00000090513 ENST00000315782.6:c.1227C>T chr4.hg19:g.8613786C>T NA O00520|Q96MX2 hg19 CCDS3404.1 0.02 4.448917 TGAxGTC COVERED NOVEL CPZ-001 NOVEL basic|appris_candidate|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000359214.1 0 9.027875 KEEP 0 0 0 30 1033 CC 0.999997 0.999995 0 + 10 60 369 0 0 26.84064 107 60 3859 201 ENST00000315782.6 0.08547 0.999998 CPZ 8532 __UNKNOWN__ __UNKNOWN__ 4 8613867 8613867 __UNKNOWN__ Silent SNP G G A rs2302573 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:8613867G>A ENST00000315782.6 + 7 1386 c.1308G>A c.(1306-1308)gcG>gcA p.A436A CPZ_ENST00000429646.2_Silent_p.A55A|CPZ_ENST00000382480.2_Silent_p.A310A|CPZ_ENST00000360986.4_Silent_p.A447A NM_003652.3 NP_003643 Q66K79 CBPZ_HUMAN carboxypeptidase Z 447 NA proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055) extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578) metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270) p.A447A(1) cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 TCAACGGGGCGGACTGGTACA 0.652 NA G||| 408 0.0814696 0.0545 0.0086 5008 , , NA 8298 0.2669 NA 0.005 False NA ,,, NA NA NA 2504 0.0573 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) G ,, 282,4120 153.7+/-187.2 7,268,1926 52 48 49 1341,930,1308 -7.3 0.8 4 dbSNP_100 49 29,8569 19.8+/-62.0 0,29,4270 no coding-synonymous,coding-synonymous,coding-synonymous CPZ NM_001014447.2,NM_001014448.2,NM_003652.3 ,, 7,297,6196 AA,AG,GG 0.3373,6.4062,2.3923 ,, 447/653,310/516,436/642 8613867 311,12689 2201 4299 6500 SO:0001819 synonymous_variant U83411 CCDS3404.1, CCDS33953.1, CCDS43212.1 4p16.1 2012-02-10 ENSG00000109625 ENSG00000109625 8532 2333 protein-coding gene gene with protein product metallocarboxypeptidase Z 603105 NA 9099699 Standard NM_003652 NM_001014447 NA Approved uc003glm.3 Q66K79 OTTHUMG00000090513 ENST00000315782.6:c.1308G>A chr4.hg19:g.8613867G>A NA O00520|Q96MX2 hg19 CCDS3404.1 0.02 2.170234 GGCxGAC COVERED NOVEL CPZ-001 NOVEL basic|appris_candidate|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000359214.1 2 3.310538 KEEP 0 0 0 11 371 GG 0.993072 0.979322 0 + 6 60 221 0 0 16.539829 53 60 1858 84 ENST00000315782.6 0.101695 0.986153 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 9370538 9370538 __UNKNOWN__ IGR SNP A A T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:9370538A>T NA NA USP17L30 (4091 upstream) : RP11-1396O13.13 (15204 downstream) NA NA NA AGAACACAGGACCTCTTGTCT 0.483 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.9370538A>T NA hg19 0.02 5.818877 AGGxCCT UNCOVERED NOVEL 0 2 2.708261 KEEP 68 0 0 9 283 AA 0 0 0 6 21 214 0 0 12.593894 192 40 6798 296 0.030303 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 9370603 9370603 __UNKNOWN__ IGR SNP A A G rs10022360 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:9370603A>G NA NA USP17L30 (4156 upstream) : RP11-1396O13.13 (15139 downstream) NA NA NA AACGGACATTACTTCTCTTAT 0.502 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.9370603A>G NA hg19 0.02 7.384992 ATTxCTT UNCOVERED NOVEL 0 1 3.61006 KEEP 76 0 0 12 363 AA 0 0 0 8 22 303 0 0 20.417206 148 40 5245 267 0.051282 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 9431441 9431441 __UNKNOWN__ IGR SNP A A G rs6447935|rs34310022 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:9431441A>G NA NA RNA5SP153 (18462 upstream) : DEFB131 (14818 downstream) NA NA NA GGGAGCAAACATTAAGCCCTT 0.373 NA .||| 1765 0.352436 0.6611 0.1729 5008 , , NA 18730 0.3502 NA 0.164 False NA ,,, NA NA NA 2504 0.2587 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.9431441A>G NA hg19 0.02 5.571935 AACxTTA COVERED NOVEL 0 0 3.911824 KEEP 0 0 0 13 410 AA 0.994391 0.994391 0 8 60 264 0 0 16.478244 150 60 5619 204 0.050633 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 9748401 9748401 __UNKNOWN__ IGR SNP G G A rs12648189 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:9748401G>A NA NA AC097493.1 (146350 upstream) : DRD5 (34856 downstream) NA NA NA CAACTCCAGGGCCACAGAGAA 0.547 NA g||| 230 0.0459265 0.0371 0.0086 5008 , , NA 20473 0.0784 NA 0.0328 False NA ,,, NA NA NA 2504 0.0644 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.9748401G>A NA hg19 0.02 -0.350925 AGGxCCA COVERED NOVEL 0 0 2.40793 KEEP 0 0 0 8 289 GG 0.99257 0.871187 0 18 60 646 0 0 61.233454 22 60 823 60 0.45 0.877708 WDR1 9948 __UNKNOWN__ __UNKNOWN__ 4 10076860 10076860 __UNKNOWN__ 3'UTR SNP G G A rs9926 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:10076860G>A ENST00000499869.2 - 0 2156 WDR1_ENST00000382451.2_3'UTR|WDR1_ENST00000502702.1_3'UTR|WDR1_ENST00000515743.1_5'UTR|WDR1_ENST00000382452.2_3'UTR O75083 WDR1_HUMAN WD repeat domain 1 NA NA blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|sensory perception of sound (GO:0007605) cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062) endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1) 12 STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232) CTGCAGAGACGAGGGTCATGA 0.498 NA G||| 675 0.134784 0.0552 0.1556 5008 , , NA 17783 0.1399 NA 0.2326 False NA ,,, NA NA NA 2504 0.1217 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF020260 CCDS54739.1, CCDS54740.1 4p16.1 2013-01-09 ENSG00000071127 ENSG00000071127 9948 WD repeat domain containing 12754 protein-coding gene gene with protein product 604734 NA 10036186 Standard NM_017491 NA Approved uc021xlv.1 O75083 OTTHUMG00000160253 ENST00000499869.2:c.*142C>T chr4.hg19:g.10076860G>A NA A8K6E9|A8MPU4|O75313|Q8N6E5|Q9UG05|Q9UG78|Q9UQE0 hg19 CCDS54740.1 0.02 10.305941 GACxAGG COVERED NOVEL WDR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000359877.1 1 12.97498 KEEP 0 1 31 54 1791 GG 1 1 0 - 8 60 289 0 0 17.281522 247 60 8682 369 ENST00000499869.2 0.031373 1 CLNK 116449 __UNKNOWN__ __UNKNOWN__ 4 10488373 10488373 __UNKNOWN__ 3'UTR SNP T T C rs6448005 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:10488373T>C ENST00000226951.6 - 0 5244 NM_052964.2 NP_443196.2 Q7Z7G1 CLNK_HUMAN cytokine-dependent hematopoietic cell linker NA NA immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) intracellular (GO:0005622) SH3/SH2 adaptor activity (GO:0005070) NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1) 17 TTTTCTCACTTAGGACTTTTC 0.383 NA C||| 1636 0.326677 0.6793 0.1254 5008 , , NA 16545 0.369 NA 0.0477 False NA ,,, NA NA NA 2504 0.2362 NA NA NA GBM(87;402 1286 6949 13902 35851) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB032369 CCDS47024.1 4p16.1 2013-02-14 ENSG00000109684 ENSG00000109684 116449 SH2 domain containing 17438 protein-coding gene gene with protein product mast cell immunoreceptor signal transducer 611434 NA 10562326, 10744659 Standard NM_052964 NM_052964 NA Approved MIST uc003gmo.4 Q7Z7G1 OTTHUMG00000160062 ENST00000226951.6:c.*3718A>G chr4.hg19:g.10488373T>C NA Q05C27|Q9P2U9 hg19 CCDS47024.1 0.02 4.303441 ACTxAGG COVERED NOVEL CLNK-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000359047.1 5 6.919909 KEEP 0 0 0 23 697 TT 0.999892 0.999892 0 - 8 60 300 0 0 20.377631 137 60 4832 196 ENST00000226951.6 0.055172 1 CLNK 116449 __UNKNOWN__ __UNKNOWN__ 4 10573306 10573306 __UNKNOWN__ Intron SNP T T A rs16869983 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:10573306T>A ENST00000226951.6 - 5 390 CLNK_ENST00000507719.1_Intron|CLNK_ENST00000442825.2_Intron NM_052964.2 NP_443196.2 Q7Z7G1 CLNK_HUMAN cytokine-dependent hematopoietic cell linker NA NA immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) intracellular (GO:0005622) SH3/SH2 adaptor activity (GO:0005070) NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1) 17 TTGAATCAAATTCACCTGCTT 0.443 NA T||| 91 0.0181709 0.0 0.0 5008 , , NA 18559 0.0823 NA 0.002 False NA ,,, NA NA NA 2504 0.0061 NA NA NA GBM(87;402 1286 6949 13902 35851) NA 0 T 0,1384 0,0,692 77 71 73 -1.5 0 4 dbSNP_123 73 2,3180 0,2,1589 no intron CLNK NM_052964.2 0,2,2281 AA,AT,TT 0.0629,0.0,0.0438 10573306 2,4564 692 1591 2283 SO:0001627 intron_variant AB032369 CCDS47024.1 4p16.1 2013-02-14 ENSG00000109684 ENSG00000109684 116449 SH2 domain containing 17438 protein-coding gene gene with protein product mast cell immunoreceptor signal transducer 611434 NA 10562326, 10744659 Standard NM_052964 NM_052964 NA Approved MIST uc003gmo.4 Q7Z7G1 OTTHUMG00000160062 ENST00000226951.6:c.150+58A>T chr4.hg19:g.10573306T>A NA Q05C27|Q9P2U9 hg19 CCDS47024.1 0.02 12.348399 AAAxTCA COVERED NOVEL CLNK-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000359047.1 1 6.318642 KEEP 0 0 0 21 646 TT 0.999869 0.999869 0 - 13 60 464 0 0 29.053668 304 60 11114 356 ENST00000226951.6 0.041009 1 HS3ST1 9957 __UNKNOWN__ __UNKNOWN__ 4 11399281 11399281 __UNKNOWN__ 3'UTR SNP T T C rs79735574 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:11399281T>C ENST00000002596.5 - 0 3523 NM_005114.2 NP_005105.1 O14792 HS3S1_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 1 NA NA carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281) Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021) [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)|sulfotransferase activity (GO:0008146) breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3) 15 tgggcctaattcctcctcttt 0.388 NA T||| 124 0.0247604 0.0015 0.0692 5008 , , NA 17416 0.0704 NA 0.0 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF019386 CCDS3408.1 4p16 2008-02-05 ENSG00000002587 ENSG00000002587 9957 2.8.2.23 Sulfotransferases, membrane-bound 5194 protein-coding gene gene with protein product 603244 NA 9988767 Standard NM_005114 NM_005114 NA Approved 3OST1 uc003gmq.3 O14792 OTTHUMG00000090547 ENST00000002596.5:c.*1425A>G chr4.hg19:g.11399281T>C NA B3KUA6|Q6PEY8 hg19 CCDS3408.1 0.02 6.938377 AATxCCT COVERED NOVEL HS3ST1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207073.3 0 12.635565 KEEP 0 0 0 42 1298 TT 1 1 0 - 9 60 330 0 0 22.493553 142 60 5108 234 ENST00000002596.5 0.059603 1 CPEB2 132864 __UNKNOWN__ __UNKNOWN__ 4 15005604 15005604 __UNKNOWN__ 5'UTR SNP G G A rs112476821 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:15005604G>A ENST00000259997.5 + 0 45 CPEB2_ENST00000538197.1_Missense_Mutation_p.S436N|CPEB2_ENST00000382401.3_5'UTR|CPEB2_ENST00000507071.1_5'UTR|CPEB2_ENST00000442003.2_Missense_Mutation_p.S436N|CPEB2_ENST00000345451.3_5'UTR|CPEB2_ENST00000382395.3_5'UTR|CPEB2_ENST00000541112.1_Missense_Mutation_p.S436N Q7Z5Q1 CPEB2_HUMAN cytoplasmic polyadenylation element binding protein 2 NA NA cellular response to arsenic-containing substance (GO:0071243)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to oxidative stress (GO:0034599)|negative regulation of cytoplasmic translation (GO:2000766)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of GTPase activity (GO:0034260) cytoplasm (GO:0005737)|messenger ribonucleoprotein complex (GO:1990124)|nucleus (GO:0005634) GTPase inhibitor activity (GO:0005095)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|ribosome binding (GO:0043022)|translation repressor activity, nucleic acid binding (GO:0000900) autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3) 14 GGCTCGCTCAGCGCCATGCCG 0.756 NA g||| 2367 0.472644 0.3253 0.5922 5008 , , NA 2747 0.7292 NA 0.5258 False NA ,,, NA NA NA 2504 0.2679 NA NA NA NA 0 ASN/SER,ASN/SER,ASN/SER,ASN/SER,ASN/SER,ASN/SER 1000,2112 207,586,763 3 4 4 1307,1307,1307,1307,1307,1307 0.3 0.9 4 dbSNP_132 4 2948,3446 796,1356,1045 no missense,missense,missense,missense,missense,missense CPEB2 NM_001177381.1,NM_001177382.1,NM_001177383.1,NM_001177384.1,NM_182485.2,NM_182646.2 46,46,46,46,46,46 1003,1942,1808 AA,AG,GG 46.1057,32.1337,41.5317 ,,,,, 436/1008,436/1035,436/1005,436/1000,436/1027,436/997 15005604 3948,5558 1556 3197 4753 SO:0001623 5_prime_UTR_variant AY247744 CCDS56325.1, CCDS56326.1 4p15.33 2013-02-12 ENSG00000137449 ENSG00000137449 132864 RNA binding motif (RRM) containing 21745 protein-coding gene gene with protein product 610605 NA 12672660 Standard XM_059607 NM_182485 NA Approved uc003gnk.2 Q7Z5Q1 OTTHUMG00000090669 ENST00000259997.5:c.-5G>A chr4.hg19:g.15005604G>A NA E7EPM3|F5H160|Q3B8N6|Q3MI89|Q3MI90|Q3MI92|Q7Z5Q0 hg19 0.02 1.599905 TCAxCGC COVERED 1222 0.5595238095238095 170 0.34552845528455284 202 0.5580110497237569 441 0.7709790209790209 409 0.5395778364116095 g 0.683 -0.797424 0.02862 0.321337 0.461057 ENSG00000137449 ENST00000538197;ENST00000541112;ENST00000442003 D;T;T 0.82433 -1.61;0.79;0.8 1.29 0.336 0.15958 . . . . . T 0.00012 0.0000 N 0.08118 0 0.52501 P 4.499999999996174E-5 . . . . . . T 0.38351 -0.9665 6 0.27082 T 0.32 . 2.7676 0.05324 0.2146:0.3084:0.477:0.0 . . . . N 436 ENSP00000443985:S436N;ENSP00000437884:S436N;ENSP00000414270:S436N ENSP00000414270:S436N S + 2 0 CPEB2 14614702 . . 0.933000 0.37362 0.034000 0.12701 . . -0.171000 0.10797 -1.037000 0.02385 AGC NOVEL CPEB2-007 NOVEL basic|appris_candidate protein_coding NA protein_coding OTTHUMT00000359345.1 6 25.169683 KEEP 0 3 95 117 3797 GG 1 0.999835 0 + 5 60 171 0 0 11.131214 84 60 2798 401 ENST00000259997.5 0.05618 0.999835 CPEB2 132864 __UNKNOWN__ __UNKNOWN__ 4 15009232 15009232 __UNKNOWN__ Intron SNP C C T rs1874207 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:15009232C>T ENST00000259997.5 + 2 682 RP11-665G4.1_ENST00000513384.1_RNA|CPEB2_ENST00000538197.1_Intron|CPEB2_ENST00000382401.3_Intron|CPEB2_ENST00000507071.1_Intron|CPEB2_ENST00000442003.2_Intron|CPEB2_ENST00000345451.3_Intron|CPEB2_ENST00000382395.3_Intron|CPEB2_ENST00000541112.1_Intron|RP11-665G4.1_ENST00000502344.1_RNA Q7Z5Q1 CPEB2_HUMAN cytoplasmic polyadenylation element binding protein 2 NA NA cellular response to arsenic-containing substance (GO:0071243)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to oxidative stress (GO:0034599)|negative regulation of cytoplasmic translation (GO:2000766)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of GTPase activity (GO:0034260) cytoplasm (GO:0005737)|messenger ribonucleoprotein complex (GO:1990124)|nucleus (GO:0005634) GTPase inhibitor activity (GO:0005095)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|ribosome binding (GO:0043022)|translation repressor activity, nucleic acid binding (GO:0000900) autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3) 14 ATGTAAATGACCTTATCTCTA 0.318 NA C||| 2368 0.472843 0.3245 0.5922 5008 , , NA 17288 0.7302 NA 0.5278 False NA ,,, NA NA NA 2504 0.2669 NA NA NA NA 0 C ,,,,, 1574,2832 445.7+/-347.8 276,1022,905 39 39 39 ,,,,, -1.5 0 4 dbSNP_92 39 4468,4130 568.7+/-389.1 1175,2118,1006 no intron,intron,intron,intron,intron,intron CPEB2 NM_001177381.1,NM_001177382.1,NM_001177383.1,NM_001177384.1,NM_182485.2,NM_182646.2 ,,,,, 1451,3140,1911 TT,TC,CC 48.0344,35.724,46.4626 ,,,,, ,,,,, 15009232 6042,6962 2203 4299 6502 SO:0001627 intron_variant AY247744 CCDS56325.1, CCDS56326.1 4p15.33 2013-02-12 ENSG00000137449 ENSG00000137449 132864 RNA binding motif (RRM) containing 21745 protein-coding gene gene with protein product 610605 NA 12672660 Standard XM_059607 NM_182485 NA Approved uc003gnk.2 Q7Z5Q1 OTTHUMG00000090669 ENST00000259997.5:c.633+22C>T chr4.hg19:g.15009232C>T NA E7EPM3|F5H160|Q3B8N6|Q3MI89|Q3MI90|Q3MI92|Q7Z5Q0 hg19 0.02 6.322223 TGAxCTT COVERED NOVEL CPEB2-007 NOVEL basic|appris_candidate protein_coding NA protein_coding OTTHUMT00000359345.1 2 3.644343 KEEP 0 1 28 22 728 CC 0.999892 0.999892 0 + 6 60 217 0 0 13.575116 147 60 5282 177 ENST00000259997.5 0.039216 1 CC2D2A 57545 __UNKNOWN__ __UNKNOWN__ 4 15516389 15516389 __UNKNOWN__ Silent SNP C C T rs2286976 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:15516389C>T ENST00000503292.1 + 10 957 c.777C>T c.(775-777)caC>caT p.H259H CC2D2A_ENST00000389652.5_Silent_p.H210H|CC2D2A_ENST00000513811.1_3'UTR|CC2D2A_ENST00000413206.1_Silent_p.H259H|CC2D2A_ENST00000424120.1_Silent_p.H259H NM_001080522.2 NP_001073991.2 Q9P2K1 C2D2A_HUMAN coiled-coil and C2 domain containing 2A 259 NA cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224) ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038) NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2) 32 GCTTAGATCACGTGGCTGACG 0.428 NA C||| 481 0.0960463 0.0431 0.0303 5008 , , NA 18626 0.3492 NA 0.0268 False NA ,,, NA NA NA 2504 0.0245 NA NA NA NA 0 C 200,3754 3,194,1780 142 142 142 777 -8.1 0 4 dbSNP_100 142 228,8098 1,226,3936 no coding-synonymous CC2D2A NM_001080522.2 4,420,5716 TT,TC,CC 2.7384,5.0582,3.4853 259/1621 15516389 428,11852 1977 4163 6140 SO:0001819 synonymous_variant AB037766, EU450799 CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1 4p15.33 2014-09-17 2007-10-19 ENSG00000048342 ENSG00000048342 57545 29253 protein-coding gene gene with protein product Meckel syndrome, type 6 612013 NA 10718198, 18513680 Standard NM_001080522 NM_001080522 NA Approved KIAA1345, MKS6, JBTS9 uc010idv.2 Q9P2K1 OTTHUMG00000160255 ENST00000503292.1:c.777C>T chr4.hg19:g.15516389C>T NA A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7 hg19 CCDS47026.1 0.02 13.361234 TCAxGTG COVERED NOVEL CC2D2A-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000359906.2 2 15.950615 KEEP 0 0 0 53 1830 CC 1 1 0 + 12 60 443 0 0 27.5383 325 60 11760 457 ENST00000503292.1 0.035608 1 FBXL5 26234 __UNKNOWN__ __UNKNOWN__ 4 15632484 15632484 __UNKNOWN__ Intron SNP C C T rs11934401 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:15632484C>T ENST00000341285.3 - 6 891 FBXL5_ENST00000382358.4_Intron|FBXL5_ENST00000412094.2_Intron NM_001193534.1|NM_001193535.1|NM_012161.3 NP_001180463.1|NP_001180464.1|NP_036293.1 Q9UKA1 FBXL5_HUMAN F-box and leucine-rich repeat protein 5 NA NA iron ion homeostasis (GO:0055072)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146) perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151) iron ion binding (GO:0005506)|ubiquitin-protein transferase activity (GO:0004842) endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 13 AAAAACTAAGCTATTTACGAT 0.338 NA C||| 479 0.095647 0.0893 0.0274 5008 , , NA 16782 0.2321 NA 0.0199 False NA ,,, NA NA NA 2504 0.09 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF174591 CCDS3415.1, CCDS54745.1 4p15.33 2011-06-09 ENSG00000118564 ENSG00000118564 26234 F-boxes / Leucine-rich repeats 13602 protein-coding gene gene with protein product 605655 NA 10531035 Standard NM_012161 NA Approved FBL4, FBL5, FLR1 uc003goc.2 Q9UKA1 OTTHUMG00000097097 ENST00000341285.3:c.767-70G>A chr4.hg19:g.15632484C>T NA A8MSK4|B4DIB5|Q4W5A8|Q8NHP3|Q9NXN2|Q9P0I0|Q9P0X5|Q9UJT7|Q9UKC8 hg19 CCDS3415.1 0.02 4.065071 AAGxTAT COVERED NOVEL FBXL5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000214235.2 2 5.716686 KEEP 0 0 0 19 660 CC 0.99986 0.99986 0 - 11 60 389 0 0 27.489518 127 60 4805 162 ENST00000341285.3 0.07971 1 BST1 683 __UNKNOWN__ __UNKNOWN__ 4 15709252 15709252 __UNKNOWN__ Missense_Mutation SNP G G A rs2302464 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:15709252G>A ENST00000265016.4 + 3 629 c.434G>A c.(433-435)cGa>cAa p.R145Q BST1_ENST00000382346.3_Missense_Mutation_p.R160Q NM_004334.2 NP_004325.2 Q10588 BST1_HUMAN bone marrow stromal cell antigen 1 145 NA R -> Q (in dbSNP:rs2302464). humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275) anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886) NAD(P)+ nucleosidase activity (GO:0050135)|NAD+ nucleosidase activity (GO:0003953)|transferase activity (GO:0016740) p.R145Q(1) central_nervous_system(1)|large_intestine(1)|lung(2)|stomach(3)|urinary_tract(1) 8 AGCTGGTGTCGACAGAAAAAT 0.443 NA G||| 396 0.0790735 0.0287 0.0259 5008 , , NA 14972 0.2232 NA 0.0199 False NA ,,, NA NA NA 2504 0.0971 NA NA NA NA 1 Substitution - Missense(1) stomach(1) G GLN/ARG 201,4205 125.3+/-162.5 4,193,2006 114 109 110 434 3.8 1 4 dbSNP_100 110 228,8372 94.2+/-156.2 1,226,4073 yes missense BST1 NM_004334.2 43 5,419,6079 AA,AG,GG 2.6512,4.562,3.2985 probably-damaging 145/319 15709252 429,12577 2203 4300 6503 SO:0001583 missense D21878 CCDS3416.1 4p15 2010-05-04 ENSG00000109743 ENSG00000109743 683 3.2.2.5 CD molecules 1118 protein-coding gene gene with protein product NAD(+) nucleosidase, ADP-ribosyl cyclase 2 600387 NA 8202488 Standard NM_004334 NM_004334 NA Approved CD157 uc003goh.4 Q10588 OTTHUMG00000097739 ENST00000265016.4:c.434G>A chr4.hg19:g.15709252G>A ENSP00000265016:p.Arg145Gln NA B2R6A2|Q1XII0|Q5U0K0|Q96EN3 hg19 CCDS3416.1 0.02 12.32299 GTCxACA COVERED 172|172 0.07875457875457875|0.07875457875457875 10|10 0.02032520325203252|0.02032520325203252 11|11 0.03038674033149171|0.03038674033149171 136|136 0.23776223776223776|0.23776223776223776 15|15 0.01978891820580475|0.01978891820580475 G|G 17.72|17.72 3.459767|3.459767 0.63401|0.63401 0.04562|0.04562 0.026512|0.026512 ENSG00000109743|ENSG00000109743 ENST00000505785|ENST00000265016;ENST00000382346 .|T;T .|0.17854 .|2.25;2.25 5.62|5.62 3.84|3.84 0.44239|0.44239 .|. .|0.124747 .|0.53938 .|D .|0.000054 T|T 0.00012|0.00012 0.0000|0.0000 M|M 0.68952|0.68952 2.095|2.095 0.28171|0.28171 P|P 0.9285529|0.9285529 .|D .|0.89917 .|1.0 .|P .|0.52909 .|0.713 T|T 0.21484|0.21484 -1.0244|-1.0244 4|9 .|0.45353 .|T .|0.12 -4.1085|-4.1085 8.1902|8.1902 0.31363|0.31363 0.0858:0.1559:0.7582:0.0|0.0858:0.1559:0.7582:0.0 rs2302464;rs11548109;rs52836531;rs58881266;rs2302464|rs2302464;rs11548109;rs52836531;rs58881266;rs2302464 .|145 .|Q10588 .|BST1_HUMAN N|Q 41|145;160 .|ENSP00000265016:R145Q;ENSP00000371783:R160Q .|ENSP00000265016:R145Q D|R +|+ 1|2 0|0 BST1|BST1 15318350|15318350 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.737000|0.737000 0.42083|0.42083 3.645000|3.645000 0.54389|0.54389 1.373000|1.373000 0.46208|0.46208 0.591000|0.591000 0.81541|0.81541 GAC|CGA NOVEL BST1-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000214968.2 1 15.949297 KEEP 0 0 0 53 1753 GG 1 1 0 + 9 60 331 0 0 19.593694 311 60 11369 413 ENST00000265016.4 0.028125 1 BST1 683 __UNKNOWN__ __UNKNOWN__ 4 15713446 15713446 __UNKNOWN__ Silent SNP C C T rs2302463 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:15713446C>T ENST00000265016.4 + 4 663 c.468C>T c.(466-468)tcC>tcT p.S156S BST1_ENST00000382346.3_Silent_p.S171S NM_004334.2 NP_004325.2 Q10588 BST1_HUMAN bone marrow stromal cell antigen 1 156 NA humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275) anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886) NAD(P)+ nucleosidase activity (GO:0050135)|NAD+ nucleosidase activity (GO:0003953)|transferase activity (GO:0016740) p.S156S(1) central_nervous_system(1)|large_intestine(1)|lung(2)|stomach(3)|urinary_tract(1) 8 ATTACCAATCCTGCCCTACAT 0.393 NA C||| 420 0.0838658 0.0703 0.0288 5008 , , NA 21378 0.1895 NA 0.0199 False NA ,,, NA NA NA 2504 0.0982 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) C 358,4048 183.3+/-210.9 12,334,1857 144 139 141 468 1.9 1 4 dbSNP_100 141 233,8367 95.4+/-157.2 1,231,4068 no coding-synonymous BST1 NM_004334.2 13,565,5925 TT,TC,CC 2.7093,8.1253,4.5441 156/319 15713446 591,12415 2203 4300 6503 SO:0001819 synonymous_variant D21878 CCDS3416.1 4p15 2010-05-04 ENSG00000109743 ENSG00000109743 683 3.2.2.5 CD molecules 1118 protein-coding gene gene with protein product NAD(+) nucleosidase, ADP-ribosyl cyclase 2 600387 NA 8202488 Standard NM_004334 NM_004334 NA Approved CD157 uc003goh.4 Q10588 OTTHUMG00000097739 ENST00000265016.4:c.468C>T chr4.hg19:g.15713446C>T NA B2R6A2|Q1XII0|Q5U0K0|Q96EN3 hg19 CCDS3416.1 0.02 14.471449 ATCxTGC COVERED 165 0.07554945054945054 27 0.054878048780487805 12 0.03314917127071823 111 0.19405594405594406 15 0.01978891820580475 C 5.214 0.224934 0.09916 0.081253 0.027093 ENSG00000109743 ENST00000505785 . . . 5.64 1.87 0.25490 . . . . . T 0.00039 0.0001 . . . 0.09310 P 0.9999999761068 . . . . . . T 0.17198 -1.0377 3 . . . -19.4162 2.0425 0.03553 0.1628:0.5085:0.1575:0.1713 rs2302463;rs11548108;rs2302463 . . . L 52 . . P + 2 0 BST1 15322544 0.998000 0.40836 0.963000 0.40424 0.492000 0.33523 0.227000 0.17795 0.278000 0.22164 -0.126000 0.14955 CCT NOVEL BST1-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000214968.2 4 9.33053 KEEP 0 0 0 31 1114 CC 0.999997 0.999997 0 + 19 60 715 0 0 49.435117 295 60 10763 416 ENST00000265016.4 0.06051 1 BST1 683 __UNKNOWN__ __UNKNOWN__ 4 15733248 15733248 __UNKNOWN__ Intron SNP C C T rs4267735 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:15733248C>T ENST00000265016.4 + 9 1046 BST1_ENST00000382346.3_Intron NM_004334.2 NP_004325.2 Q10588 BST1_HUMAN bone marrow stromal cell antigen 1 NA NA humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275) anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886) NAD(P)+ nucleosidase activity (GO:0050135)|NAD+ nucleosidase activity (GO:0003953)|transferase activity (GO:0016740) central_nervous_system(1)|large_intestine(1)|lung(2)|stomach(3)|urinary_tract(1) 8 CTTTGCTGCTCATGGCTTCTC 0.512 NA C||| 426 0.0850639 0.028 0.0504 5008 , , NA 19745 0.2381 NA 0.0229 False NA ,,, NA NA NA 2504 0.093 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D21878 CCDS3416.1 4p15 2010-05-04 ENSG00000109743 ENSG00000109743 683 3.2.2.5 CD molecules 1118 protein-coding gene gene with protein product NAD(+) nucleosidase, ADP-ribosyl cyclase 2 600387 NA 8202488 Standard NM_004334 NM_004334 NA Approved CD157 uc003goh.4 Q10588 OTTHUMG00000097739 ENST00000265016.4:c.852-115C>T chr4.hg19:g.15733248C>T NA B2R6A2|Q1XII0|Q5U0K0|Q96EN3 hg19 CCDS3416.1 0.02 1.924632 GCTxATG COVERED NOVEL BST1-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000214968.2 1 3.009807 KEEP 0 0 0 10 352 CC 0.992708 0.992436 0 + 6 60 221 0 0 15.514636 80 60 3053 104 ENST00000265016.4 0.069767 0.999726 BST1 683 __UNKNOWN__ __UNKNOWN__ 4 15733454 15733454 __UNKNOWN__ Silent SNP A A C rs1058212 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:15733454A>C ENST00000265016.4 + 9 1138 c.943A>C c.(943-945)Agg>Cgg p.R315R BST1_ENST00000382346.3_Silent_p.R330R NM_004334.2 NP_004325.2 Q10588 BST1_HUMAN bone marrow stromal cell antigen 1 315 NA humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275) anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886) NAD(P)+ nucleosidase activity (GO:0050135)|NAD+ nucleosidase activity (GO:0003953)|transferase activity (GO:0016740) p.R315R(2) central_nervous_system(1)|large_intestine(1)|lung(2)|stomach(3)|urinary_tract(1) 8 GCTGGCTTCCAGGACTCAACT 0.493 NA G||| 931 0.185903 0.115 0.0951 5008 , , NA 16685 0.502 NA 0.0308 False NA ,,, NA NA NA 2504 0.18 NA NA NA NA 2 Substitution - coding silent(2) stomach(1)|central_nervous_system(1) G 506,3900 26,454,1723 55 52 53 943 4 0 4 dbSNP_86 53 260,8340 3,254,4043 no coding-synonymous BST1 NM_004334.2 29,708,5766 CC,CA,AA 3.0233,11.4843,5.8896 315/319 15733454 766,12240 2203 4300 6503 SO:0001819 synonymous_variant D21878 CCDS3416.1 4p15 2010-05-04 ENSG00000109743 ENSG00000109743 683 3.2.2.5 CD molecules 1118 protein-coding gene gene with protein product NAD(+) nucleosidase, ADP-ribosyl cyclase 2 600387 NA 8202488 Standard NM_004334 NM_004334 NA Approved CD157 uc003goh.4 Q10588 OTTHUMG00000097739 ENST00000265016.4:c.943A>C chr4.hg19:g.15733454A>C NA B2R6A2|Q1XII0|Q5U0K0|Q96EN3 hg19 CCDS3416.1 0.02 16.002789 TCCxGGA COVERED NOVEL BST1-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000214968.2 3 16.537329 KEEP 0 0 0 55 1684 AA 1 1 0 + 18 60 624 0 0 39.634219 371 60 13621 525 ENST00000265016.4 0.046272 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 15737863 15737863 __UNKNOWN__ IGR SNP G G A rs4273468 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:15737863G>A NA NA BST1 (3453 upstream) : CD38 (42037 downstream) NA NA NA aatGTCCTACGCTAGGGTCCT 0.448 NA G||| 1546 0.308706 0.3472 0.232 5008 , , NA 19946 0.5565 NA 0.162 False NA ,,, NA NA NA 2504 0.2065 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.15737863G>A NA hg19 0.02 15.325571 TACxCTA COVERED NOVEL 0 1 7.223539 KEEP 0 0 0 24 842 GG 0.999909 0.999909 0 21 60 735 0 0 48.757222 340 60 12479 439 0.058172 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 15737890 15737890 __UNKNOWN__ IGR SNP T T C rs4613561 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:15737890T>C NA NA BST1 (3480 upstream) : CD38 (42010 downstream) NA NA NA ATCGTCCTCTTGCTCAAAATC 0.473 NA C||| 2306 0.460463 0.7216 0.3386 5008 , , NA 20446 0.6042 NA 0.2475 False NA ,,, NA NA NA 2504 0.2648 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.15737890T>C NA hg19 0.02 7.432137 TCTxGCT COVERED NOVEL 0 0 4.212608 KEEP 0 0 0 14 436 TT 0.995343 0.995343 0 14 60 443 0 0 27.864324 225 60 8203 271 0.058577 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 15739390 15739390 __UNKNOWN__ IGR SNP T T G rs4263397 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:15739390T>G NA NA BST1 (4980 upstream) : CD38 (40510 downstream) NA NA NA GGTAACAAGGTACTTTCTGAA 0.473 NA G||| 2097 0.41873 0.6036 0.2839 5008 , , NA 21539 0.5972 NA 0.2455 False NA ,,, NA NA NA 2504 0.2587 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.15739390T>G NA hg19 0.02 20.095973 AGGxACT COVERED NOVEL 0 1 16.847464 KEEP 0 0 0 56 1692 TT 1 1 0 33 60 1134 0 0 77.875711 434 60 14840 631 0.070664 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 15739826 15739826 __UNKNOWN__ IGR SNP G G C rs73801704 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:15739826G>C NA NA BST1 (5416 upstream) : CD38 (40074 downstream) NA NA NA agtgggggaggctatgtatgt 0.473 NA G||| 772 0.154153 0.2685 0.0778 5008 , , NA 19730 0.2192 NA 0.0388 False NA ,,, NA NA NA 2504 0.1053 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.15739826G>C NA hg19 0.02 4.94833 GAGxCTA COVERED NOVEL 0 2 5.116654 KEEP 0 0 0 17 599 GG 0.999366 0.999364 0 9 60 330 0 0 23.518395 108 60 3924 156 0.076923 0.999998 CD38 952 __UNKNOWN__ __UNKNOWN__ 4 15835844 15835844 __UNKNOWN__ Silent SNP A A C rs1800051 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:15835844A>C ENST00000226279.3 + 4 641 c.504A>C c.(502-504)atA>atC p.I168I NM_001775.2 NP_001766.2 P28907 CD38_HUMAN CD38 molecule 168 NA apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|female pregnancy (GO:0007565)|long term synaptic depression (GO:0060292)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone resorption (GO:0045779)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell growth (GO:0030307)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of insulin secretion (GO:0032024)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hydroperoxide (GO:0033194)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165) cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886) NAD(P)+ nucleosidase activity (GO:0050135)|NAD+ nucleosidase activity (GO:0003953)|phosphorus-oxygen lyase activity (GO:0016849)|transferase activity (GO:0016740) endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1) 14 TTTTAGAAATAAACTATCAAT 0.398 NA A||| 438 0.0874601 0.087 0.0605 5008 , , NA 19189 0.1696 NA 0.0318 False NA ,,, NA NA NA 2504 0.0798 NA NA NA NA 0 A 383,4023 192.3+/-217.7 21,341,1841 79 78 78 504 1.8 0.2 4 dbSNP_89 78 315,8285 113.3+/-173.4 6,303,3991 no coding-synonymous CD38 NM_001775.2 27,644,5832 CC,CA,AA 3.6628,8.6927,5.3668 168/301 15835844 698,12308 2203 4300 6503 SO:0001819 synonymous_variant D84276 CCDS3417.1 4p15.32 2010-05-04 2006-03-28 ENSG00000004468 ENSG00000004468 952 3.2.2.5 CD molecules 1667 protein-coding gene gene with protein product ADP-ribosyl cyclase 1, NAD(+) nucleosidase 107270 CD38 antigen (p45) NA 9074508, 2319135 Standard NM_001775 NM_001775 NA Approved uc003gol.1 P28907 OTTHUMG00000048206 ENST00000226279.3:c.504A>C chr4.hg19:g.15835844A>C NA O00121|O00122|Q96HY4 hg19 CCDS3417.1 0.02 11.277109 AATxAAC COVERED 194 0.08882783882783883 48 0.0975609756097561 24 0.06629834254143646 95 0.1660839160839161 27 0.03562005277044855 A 0.132 -1.112017 0.01813 0.086927 0.036628 ENSG00000004468 ENST00000540195 . . . 5.4 1.77 0.24775 . . . . . . . . . . . 0.09310 P 0.9999999841166 . . . . . . . . . . . . . . 7.3818 0.26859 0.3629:0.0:0.6371:0.0 rs1800051;rs17848902;rs1800051 . . . . -1 . . . + . . CD38 15444942 0.548000 0.26473 0.210000 0.23637 0.084000 0.17831 -0.127000 0.10547 0.079000 0.16929 -0.248000 0.11899 . NOVEL CD38-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250322.2 1 9.02538 KEEP 0 0 0 30 943 AA 0.999997 0.999997 0 + 12 60 453 0 0 29.958749 246 60 8867 340 ENST00000226279.3 0.046512 1 CD38 952 __UNKNOWN__ __UNKNOWN__ 4 15835983 15835983 __UNKNOWN__ Intron SNP C C T rs2286553 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:15835983C>T ENST00000226279.3 + 4 722 NM_001775.2 NP_001766.2 P28907 CD38_HUMAN CD38 molecule NA NA apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|female pregnancy (GO:0007565)|long term synaptic depression (GO:0060292)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone resorption (GO:0045779)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell growth (GO:0030307)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of insulin secretion (GO:0032024)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hydroperoxide (GO:0033194)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165) cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886) NAD(P)+ nucleosidase activity (GO:0050135)|NAD+ nucleosidase activity (GO:0003953)|phosphorus-oxygen lyase activity (GO:0016849)|transferase activity (GO:0016740) endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1) 14 TAAGACGTTACTCAGTCAGTG 0.393 NA T||| 443 0.0884585 0.0893 0.0605 5008 , , NA 20375 0.1696 NA 0.0328 False NA ,,, NA NA NA 2504 0.0808 NA NA NA NA 0 T 122,1262 7,108,577 40 36 37 2.4 0 4 dbSNP_100 37 104,3078 5,94,1492 no intron CD38 NM_001775.2 12,202,2069 TT,TC,CC 3.2684,8.815,4.9496 15835983 226,4340 692 1591 2283 SO:0001627 intron_variant D84276 CCDS3417.1 4p15.32 2010-05-04 2006-03-28 ENSG00000004468 ENSG00000004468 952 3.2.2.5 CD molecules 1667 protein-coding gene gene with protein product ADP-ribosyl cyclase 1, NAD(+) nucleosidase 107270 CD38 antigen (p45) NA 9074508, 2319135 Standard NM_001775 NM_001775 NA Approved uc003gol.1 P28907 OTTHUMG00000048206 ENST00000226279.3:c.585+58C>T chr4.hg19:g.15835983C>T NA O00121|O00122|Q96HY4 hg19 CCDS3417.1 0.02 7.918781 TTAxTCA COVERED NOVEL CD38-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250322.2 1 9.330696 KEEP 0 0 0 31 1132 CC 0.999997 0.999997 0 + 8 60 286 0 0 17.31367 224 60 8430 303 ENST00000226279.3 0.034483 1 PROM1 8842 __UNKNOWN__ __UNKNOWN__ 4 15977731 15977731 __UNKNOWN__ Intron SNP C C T rs3796861 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:15977731C>T ENST00000505450.1 - 25 3168 PROM1_ENST00000508167.1_Intron|PROM1_ENST00000540805.1_Intron|PROM1_ENST00000539194.1_Intron|PROM1_ENST00000510224.1_Intron|PROM1_ENST00000447510.2_Intron NM_001145848.1 NP_001139320.1 O43490 PROM1_HUMAN prominin 1 NA NA camera-type eye photoreceptor cell differentiation (GO:0060219)|glomerular parietal epithelial cell differentiation (GO:0072139)|glomerular visceral epithelial cell differentiation (GO:0072112)|photoreceptor cell maintenance (GO:0045494)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|retina layer formation (GO:0010842)|retina morphogenesis in camera-type eye (GO:0060042) apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|vesicle (GO:0031982) actinin binding (GO:0042805)|cadherin binding (GO:0045296) breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2) 35 CAATGTCTGTCGTAAGCAGAA 0.398 NA t||| 997 0.199081 0.0492 0.2608 5008 , , NA 21388 0.1587 NA 0.2753 False NA ,,, NA NA NA 2504 0.3211 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF027208 CCDS47029.1, CCDS54746.1, CCDS54747.1, CCDS54748.1 4p15 2013-06-06 2001-11-28 2003-03-28 ENSG00000007062 ENSG00000007062 8842 CD molecules 9454 protein-coding gene gene with protein product 604365 prominin (mouse)-like 1, macular dystrophy, retinal 2, Stargardt disease 4 (autosomal dominant) PROML1, MCDR2, STGD4 NA 11467842 Standard NM_006017 NM_006017 NA Approved AC133, CD133, RP41, CORD12 uc003goo.2 O43490 OTTHUMG00000160180 ENST00000505450.1:c.2555+3286G>A chr4.hg19:g.15977731C>T NA Q6SV49|Q6SV50|Q6SV51|Q6SV52|Q6SV53|Q96EN6 hg19 CCDS54746.1 0.02 10.594575 TGTxGTA COVERED NOVEL PROM1-001 NOVEL basic|appris_candidate|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000359592.2 2 8.726862 KEEP 0 0 0 29 954 CC 0.999997 0.999997 0 - 9 60 330 0 0 20.392375 246 60 8770 353 ENST00000505450.1 0.035294 1 PROM1 8842 __UNKNOWN__ __UNKNOWN__ 4 15977823 15977823 __UNKNOWN__ Intron SNP A A C rs3796860 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:15977823A>C ENST00000505450.1 - 25 3168 PROM1_ENST00000508167.1_Intron|PROM1_ENST00000540805.1_Intron|PROM1_ENST00000539194.1_Intron|PROM1_ENST00000510224.1_Intron|PROM1_ENST00000543373.1_Intron|PROM1_ENST00000447510.2_Intron NM_001145848.1 NP_001139320.1 O43490 PROM1_HUMAN prominin 1 NA NA camera-type eye photoreceptor cell differentiation (GO:0060219)|glomerular parietal epithelial cell differentiation (GO:0072139)|glomerular visceral epithelial cell differentiation (GO:0072112)|photoreceptor cell maintenance (GO:0045494)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|retina layer formation (GO:0010842)|retina morphogenesis in camera-type eye (GO:0060042) apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|vesicle (GO:0031982) actinin binding (GO:0042805)|cadherin binding (GO:0045296) breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2) 35 TCAACACTAAAAGCCCAAGAT 0.368 NA c||| 1043 0.208267 0.0779 0.2709 5008 , , NA 22078 0.1597 NA 0.2753 False NA ,,, NA NA NA 2504 0.3211 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF027208 CCDS47029.1, CCDS54746.1, CCDS54747.1, CCDS54748.1 4p15 2013-06-06 2001-11-28 2003-03-28 ENSG00000007062 ENSG00000007062 8842 CD molecules 9454 protein-coding gene gene with protein product 604365 prominin (mouse)-like 1, macular dystrophy, retinal 2, Stargardt disease 4 (autosomal dominant) PROML1, MCDR2, STGD4 NA 11467842 Standard NM_006017 NM_006017 NA Approved AC133, CD133, RP41, CORD12 uc003goo.2 O43490 OTTHUMG00000160180 ENST00000505450.1:c.2555+3194T>G chr4.hg19:g.15977823A>C NA Q6SV49|Q6SV50|Q6SV51|Q6SV52|Q6SV53|Q96EN6 hg19 CCDS54746.1 0.02 7.341341 TAAxAGC COVERED NOVEL PROM1-001 NOVEL basic|appris_candidate|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000359592.2 0 6.317553 KEEP 0 0 0 21 630 AA 0.999869 0.999869 0 - 8 60 305 0 0 20.50568 153 60 5489 212 ENST00000505450.1 0.049689 1 PROM1 8842 __UNKNOWN__ __UNKNOWN__ 4 15977828 15977828 __UNKNOWN__ Intron SNP C C G rs3796859 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:15977828C>G ENST00000505450.1 - 25 3168 PROM1_ENST00000508167.1_Intron|PROM1_ENST00000540805.1_Intron|PROM1_ENST00000539194.1_Intron|PROM1_ENST00000510224.1_Intron|PROM1_ENST00000543373.1_Intron|PROM1_ENST00000447510.2_Intron NM_001145848.1 NP_001139320.1 O43490 PROM1_HUMAN prominin 1 NA NA camera-type eye photoreceptor cell differentiation (GO:0060219)|glomerular parietal epithelial cell differentiation (GO:0072139)|glomerular visceral epithelial cell differentiation (GO:0072112)|photoreceptor cell maintenance (GO:0045494)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|retina layer formation (GO:0010842)|retina morphogenesis in camera-type eye (GO:0060042) apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|vesicle (GO:0031982) actinin binding (GO:0042805)|cadherin binding (GO:0045296) breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2) 35 ACTAAAAGCCCAAGATGAAAT 0.358 NA c||| 1042 0.208067 0.0779 0.2709 5008 , , NA 22263 0.1597 NA 0.2744 False NA ,,, NA NA NA 2504 0.3211 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF027208 CCDS47029.1, CCDS54746.1, CCDS54747.1, CCDS54748.1 4p15 2013-06-06 2001-11-28 2003-03-28 ENSG00000007062 ENSG00000007062 8842 CD molecules 9454 protein-coding gene gene with protein product 604365 prominin (mouse)-like 1, macular dystrophy, retinal 2, Stargardt disease 4 (autosomal dominant) PROML1, MCDR2, STGD4 NA 11467842 Standard NM_006017 NM_006017 NA Approved AC133, CD133, RP41, CORD12 uc003goo.2 O43490 OTTHUMG00000160180 ENST00000505450.1:c.2555+3189G>C chr4.hg19:g.15977828C>G NA Q6SV49|Q6SV50|Q6SV51|Q6SV52|Q6SV53|Q96EN6 hg19 CCDS54746.1 0.02 6.486402 GCCxAAG COVERED NOVEL PROM1-001 NOVEL basic|appris_candidate|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000359592.2 0 6.019211 KEEP 0 0 0 20 692 CC 0.999863 0.999863 0 - 9 60 335 0 0 22.828922 148 60 5519 202 ENST00000505450.1 0.057325 1 PROM1 8842 __UNKNOWN__ __UNKNOWN__ 4 15980975 15980975 __UNKNOWN__ Intron SNP G G A rs11725522 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:15980975G>A ENST00000505450.1 - 25 3168 PROM1_ENST00000508167.1_Intron|PROM1_ENST00000540805.1_Intron|PROM1_ENST00000539194.1_Intron|PROM1_ENST00000510224.1_Intron|PROM1_ENST00000543373.1_Intron|PROM1_ENST00000447510.2_Intron NM_001145848.1 NP_001139320.1 O43490 PROM1_HUMAN prominin 1 NA NA camera-type eye photoreceptor cell differentiation (GO:0060219)|glomerular parietal epithelial cell differentiation (GO:0072139)|glomerular visceral epithelial cell differentiation (GO:0072112)|photoreceptor cell maintenance (GO:0045494)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|retina layer formation (GO:0010842)|retina morphogenesis in camera-type eye (GO:0060042) apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|vesicle (GO:0031982) actinin binding (GO:0042805)|cadherin binding (GO:0045296) breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2) 35 GAGATGAGACGGTTTATCATA 0.393 NA G||| 868 0.173323 0.0121 0.2464 5008 , , NA 20325 0.1081 NA 0.2753 False NA ,,, NA NA NA 2504 0.3016 NA NA NA NA 0 G ,,,,,, 208,3740 9,190,1775 100 100 100 ,,,,,, -6.8 0 4 dbSNP_120 100 2461,5839 366,1729,2055 no intron,intron,intron,intron,intron,intron,intron PROM1 NM_001145847.1,NM_001145848.1,NM_001145849.1,NM_001145850.1,NM_001145851.1,NM_001145852.1,NM_006017.2 ,,,,,, 375,1919,3830 AA,AG,GG 29.6506,5.2685,21.7913 ,,,,,, ,,,,,, 15980975 2669,9579 1974 4150 6124 SO:0001627 intron_variant AF027208 CCDS47029.1, CCDS54746.1, CCDS54747.1, CCDS54748.1 4p15 2013-06-06 2001-11-28 2003-03-28 ENSG00000007062 ENSG00000007062 8842 CD molecules 9454 protein-coding gene gene with protein product 604365 prominin (mouse)-like 1, macular dystrophy, retinal 2, Stargardt disease 4 (autosomal dominant) PROML1, MCDR2, STGD4 NA 11467842 Standard NM_006017 NM_006017 NA Approved AC133, CD133, RP41, CORD12 uc003goo.2 O43490 OTTHUMG00000160180 ENST00000505450.1:c.2555+42C>T chr4.hg19:g.15980975G>A NA Q6SV49|Q6SV50|Q6SV51|Q6SV52|Q6SV53|Q96EN6 hg19 CCDS54746.1 0.02 12.45815 GACxGTT COVERED NOVEL PROM1-001 NOVEL basic|appris_candidate|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000359592.2 0 4.549941 KEEP 0 1 34 27 920 GG 0.999997 0.999997 0 - 11 60 390 0 0 23.137837 339 60 11880 476 ENST00000505450.1 0.031429 1 TAPT1 202018 __UNKNOWN__ __UNKNOWN__ 4 16163486 16163486 __UNKNOWN__ 3'UTR SNP C C T rs10516299 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:16163486C>T ENST00000405303.2 - 0 3232 NM_153365.2 NP_699196.2 Q6NXT6 TAPT1_HUMAN transmembrane anterior posterior transformation 1 NA NA embryonic skeletal system development (GO:0048706)|G-protein coupled receptor signaling pathway (GO:0007186)|in utero embryonic development (GO:0001701)|post-embryonic development (GO:0009791) integral component of membrane (GO:0016021) growth hormone-releasing hormone receptor activity (GO:0016520) NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1) 10 TATGTATGTACGCCTGAAACA 0.338 NA T||| 2071 0.413538 0.649 0.2651 5008 , , NA 18463 0.3442 NA 0.333 False NA ,,, NA NA NA 2504 0.3548 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK074494 CCDS47030.1 4p15.32 2014-01-28 ENSG00000169762 ENSG00000169762 202018 26887 protein-coding gene gene with protein product 612758 NA 12477932 Standard NM_153365 NM_153365 NA Approved FLJ90013 uc010ied.1 Q6NXT6 OTTHUMG00000160177 ENST00000405303.2:c.*1445G>A chr4.hg19:g.16163486C>T NA Q8N2S3|Q9NZK9 hg19 CCDS47030.1 0.02 11.032195 GTAxGCC COVERED NOVEL TAPT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000359568.1 3 15.951135 KEEP 0 0 0 53 1820 CC 1 1 0 - 10 60 377 0 0 24.019502 253 60 8911 387 ENST00000405303.2 0.038023 1 TAPT1 202018 __UNKNOWN__ __UNKNOWN__ 4 16164489 16164489 __UNKNOWN__ 3'UTR SNP G G A rs7359 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:16164489G>A ENST00000405303.2 - 0 2229 NM_153365.2 NP_699196.2 Q6NXT6 TAPT1_HUMAN transmembrane anterior posterior transformation 1 NA NA embryonic skeletal system development (GO:0048706)|G-protein coupled receptor signaling pathway (GO:0007186)|in utero embryonic development (GO:0001701)|post-embryonic development (GO:0009791) integral component of membrane (GO:0016021) growth hormone-releasing hormone receptor activity (GO:0016520) NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1) 10 ATGAAGTAACGTTTGAAAACT 0.323 NA G||| 1097 0.21905 0.4085 0.1354 5008 , , NA 17266 0.0595 NA 0.16 False NA ,,, NA NA NA 2504 0.2474 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK074494 CCDS47030.1 4p15.32 2014-01-28 ENSG00000169762 ENSG00000169762 202018 26887 protein-coding gene gene with protein product 612758 NA 12477932 Standard NM_153365 NM_153365 NA Approved FLJ90013 uc010ied.1 Q6NXT6 OTTHUMG00000160177 ENST00000405303.2:c.*442C>T chr4.hg19:g.16164489G>A NA Q8N2S3|Q9NZK9 hg19 CCDS47030.1 0.02 11.043704 AACxTTT COVERED NOVEL TAPT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000359568.1 1 9.929657 KEEP 0 0 0 33 1056 GG 0.999998 0.999998 0 - 14 60 522 0 0 34.40589 282 60 9323 354 ENST00000405303.2 0.047297 1 TAPT1 202018 __UNKNOWN__ __UNKNOWN__ 4 16198378 16198378 __UNKNOWN__ Intron SNP A A G rs10939652 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:16198378A>G ENST00000405303.2 - 4 533 TAPT1_ENST00000508888.1_Intron|TAPT1_ENST00000399920.3_Intron NM_153365.2 NP_699196.2 Q6NXT6 TAPT1_HUMAN transmembrane anterior posterior transformation 1 NA NA embryonic skeletal system development (GO:0048706)|G-protein coupled receptor signaling pathway (GO:0007186)|in utero embryonic development (GO:0001701)|post-embryonic development (GO:0009791) integral component of membrane (GO:0016021) growth hormone-releasing hormone receptor activity (GO:0016520) NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1) 10 AAGAGAGAAGATTGTAATGTT 0.423 NA G||| 2370 0.473243 0.6914 0.3112 5008 , , NA 19039 0.3552 NA 0.4095 False NA ,,, NA NA NA 2504 0.4806 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK074494 CCDS47030.1 4p15.32 2014-01-28 ENSG00000169762 ENSG00000169762 202018 26887 protein-coding gene gene with protein product 612758 NA 12477932 Standard NM_153365 NM_153365 NA Approved FLJ90013 uc010ied.1 Q6NXT6 OTTHUMG00000160177 ENST00000405303.2:c.450-5232T>C chr4.hg19:g.16198378A>G NA Q8N2S3|Q9NZK9 hg19 CCDS47030.1 0.02 4.656344 AAGxTTG COVERED NOVEL TAPT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000359568.1 0 15.346609 KEEP 0 0 0 51 1621 AA 1 1 0 - 10 60 376 0 0 26.765343 129 60 4723 243 ENST00000405303.2 0.071942 1 TAPT1 202018 __UNKNOWN__ __UNKNOWN__ 4 16215451 16215451 __UNKNOWN__ Silent SNP C C T rs6823623 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:16215451C>T ENST00000405303.2 - 2 353 c.270G>A c.(268-270)aaG>aaA p.K90K TAPT1_ENST00000508888.1_5'UTR|TAPT1_ENST00000399920.3_Intron NM_153365.2 NP_699196.2 Q6NXT6 TAPT1_HUMAN transmembrane anterior posterior transformation 1 90 NA embryonic skeletal system development (GO:0048706)|G-protein coupled receptor signaling pathway (GO:0007186)|in utero embryonic development (GO:0001701)|post-embryonic development (GO:0009791) integral component of membrane (GO:0016021) growth hormone-releasing hormone receptor activity (GO:0016520) NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1) 10 TTTCTGTATACTTGGCCTCAT 0.348 NA C||| 729 0.145567 0.475 0.0418 5008 , , NA 18664 0.0417 NA 0.005 False NA ,,, NA NA NA 2504 0.0256 NA NA NA NA 0 C 1457,2221 292,873,674 157 155 155 270 3.4 1 4 dbSNP_116 155 23,8155 0,23,4066 no coding-synonymous TAPT1 NM_153365.2 292,896,4740 TT,TC,CC 0.2812,39.6139,12.4831 90/568 16215451 1480,10376 1839 4089 5928 SO:0001819 synonymous_variant AK074494 CCDS47030.1 4p15.32 2014-01-28 ENSG00000169762 ENSG00000169762 202018 26887 protein-coding gene gene with protein product 612758 NA 12477932 Standard NM_153365 NM_153365 NA Approved FLJ90013 uc010ied.1 Q6NXT6 OTTHUMG00000160177 ENST00000405303.2:c.270G>A chr4.hg19:g.16215451C>T NA Q8N2S3|Q9NZK9 hg19 CCDS47030.1 0.02 9.191927 ATAxTTG COVERED NOVEL TAPT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000359568.1 1 19.263103 KEEP 0 0 0 64 2323 CC 1 1 0 - 13 60 487 0 0 32.814543 233 60 8821 385 ENST00000405303.2 0.052846 1 LAP3 51056 __UNKNOWN__ __UNKNOWN__ 4 17581617 17581617 __UNKNOWN__ Intron SNP T T A rs201797182|rs10939736 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:17581617T>A ENST00000226299.4 + 2 492 LAP3_ENST00000606142.1_Intron NM_015907.2 NP_056991.2 P28838 AMPL_HUMAN leucine aminopeptidase 3 NA NA proteolysis (GO:0006508) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802) aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235) endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1) 20 CGAAACAGTAttttttctttc 0.428 NA T||| 3177 0.634385 0.4735 0.719 5008 , , NA 11485 0.8542 NA 0.6521 False NA ,,, NA NA NA 2504 0.547 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF061738 CCDS3422.1 4p15.33 2012-07-25 2003-09-12 ENSG00000002549 ENSG00000002549 51056 3.4.11.1 18449 protein-coding gene gene with protein product 170250 peptidase S PEPS NA 6350155, 689684 Standard NM_015907 NA Approved LAPEP, LAP uc003gph.1 P28838 OTTHUMG00000048214 ENST00000226299.4:c.218+55T>A chr4.hg19:g.17581617T>A NA B3KMQ3|Q6IAM6|Q6P0L6|Q9UQE3 hg19 CCDS3422.1 0.02 8.875211 GTAxTTT COVERED NOVEL LAP3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250365.1 9 28.253195 KEEP 0 2 63 116 3721 TT 1 1 0 + 7 60 263 0 0 16.260991 207 60 7319 388 ENST00000226299.4 0.03271 1 LAP3 51056 __UNKNOWN__ __UNKNOWN__ 4 17590671 17590671 __UNKNOWN__ Intron SNP G G A rs17499929 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:17590671G>A ENST00000226299.4 + 7 1137 LAP3_ENST00000606142.1_Intron|LAP3_ENST00000503467.1_Intron|AC006160.5_ENST00000511010.1_RNA NM_015907.2 NP_056991.2 P28838 AMPL_HUMAN leucine aminopeptidase 3 NA NA proteolysis (GO:0006508) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802) aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235) endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1) 20 CTTGGTTATAGGGttttttgg 0.413 NA G||| 2314 0.462061 0.0431 0.6484 5008 , , NA 18793 0.7887 NA 0.5944 False NA ,,, NA NA NA 2504 0.4233 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF061738 CCDS3422.1 4p15.33 2012-07-25 2003-09-12 ENSG00000002549 ENSG00000002549 51056 3.4.11.1 18449 protein-coding gene gene with protein product 170250 peptidase S PEPS NA 6350155, 689684 Standard NM_015907 NA Approved LAPEP, LAP uc003gph.1 P28838 OTTHUMG00000048214 ENST00000226299.4:c.863+71G>A chr4.hg19:g.17590671G>A NA B3KMQ3|Q6IAM6|Q6P0L6|Q9UQE3 hg19 CCDS3422.1 0.02 6.575393 ATAxGGT COVERED NOVEL LAP3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250365.1 4 15.328292 KEEP 0 0 0 51 1740 GG 1 1 0 + 9 60 332 0 0 21.981328 171 70 6066 274 ENST00000226299.4 0.05 1 LAP3 51056 __UNKNOWN__ __UNKNOWN__ 4 17608620 17608620 __UNKNOWN__ Intron SNP A A G rs4698628 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:17608620A>G ENST00000226299.4 + 12 1644 LAP3_ENST00000606142.1_Intron|LAP3_ENST00000503467.1_Intron|AC006160.5_ENST00000511010.1_RNA NM_015907.2 NP_056991.2 P28838 AMPL_HUMAN leucine aminopeptidase 3 NA NA proteolysis (GO:0006508) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802) aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235) endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1) 20 CAAAATAGCTATTTTCAATTT 0.289 NA A||| 3056 0.610224 0.4039 0.6988 5008 , , NA 19242 0.8552 NA 0.6471 False NA ,,, NA NA NA 2504 0.5358 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF061738 CCDS3422.1 4p15.33 2012-07-25 2003-09-12 ENSG00000002549 ENSG00000002549 51056 3.4.11.1 18449 protein-coding gene gene with protein product 170250 peptidase S PEPS NA 6350155, 689684 Standard NM_015907 NA Approved LAPEP, LAP uc003gph.1 P28838 OTTHUMG00000048214 ENST00000226299.4:c.1370+59A>G chr4.hg19:g.17608620A>G NA B3KMQ3|Q6IAM6|Q6P0L6|Q9UQE3 hg19 CCDS3422.1 0.02 4.355901 GCTxTTT COVERED NOVEL LAP3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250365.1 1 2.643009 KEEP 0 1 35 21 662 AA 0.999879 0.999879 0 + 10 60 368 0 0 25.964902 129 60 4725 199 ENST00000226299.4 0.071942 1 MED28 80306 __UNKNOWN__ __UNKNOWN__ 4 17627294 17627294 __UNKNOWN__ 3'UTR SNP A A G rs2315552 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:17627294A>G ENST00000237380.7 + 0 2434 NM_025205.3 NP_079481.2 Q9H204 MED28_HUMAN mediator complex subunit 28 NA NA negative regulation of smooth muscle cell differentiation (GO:0051151)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351) cortical actin cytoskeleton (GO:0030864)|mediator complex (GO:0016592)|membrane (GO:0016020) lung(6)|skin(2) 8 TTACTGGGTGATGAATAATCC 0.378 NA A||| 2417 0.482628 0.1021 0.6427 5008 , , NA 18968 0.7927 NA 0.6024 False NA ,,, NA NA NA 2504 0.4407 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF317678 CCDS33963.1 4p16 2007-07-30 2007-07-30 ENSG00000118579 ENSG00000118579 80306 24628 protein-coding gene gene with protein product 610311 mediator of RNA polymerase II transcription, subunit 28 homolog (S. cerevisiae) NA 11779215, 15467741 Standard NM_025205 NM_025205 NA Approved EG1, DKFZP434N185, magicin uc003gpi.1 Q9H204 OTTHUMG00000161980 ENST00000237380.7:c.*1873A>G chr4.hg19:g.17627294A>G NA Q9BZJ5 hg19 CCDS33963.1 0.02 32.732256 GTGxTGA COVERED 1184 0.5421245421245421 43 0.08739837398373984 226 0.6243093922651933 458 0.8006993006993007 457 0.6029023746701847 A 2.297 -0.361062 0.05103 . . ENSG00000118579 ENST00000503945 . . . 2.01 0.734 0.18294 . . . . . . . . . . . 0.80722 P 0.0 . . . . . . . . . . . . . . 4.932 0.13921 0.6792:0.3208:0.0:0.0 rs2315552;rs3796816;rs17567200;rs2315552 . . . W 180 . . X + 3 0 MED28 17236392 0.010000 0.17322 0.011000 0.14972 0.100000 0.18952 -0.076000 0.11412 0.240000 0.21263 0.462000 0.41574 TGA NOVEL MED28-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000360055.3 4 24.810749 KEEP 0 1 36 95 3056 AA 1 1 0 + 39 60 1408 0 0 91.858068 757 60 27314 1078 ENST00000237380.7 0.048995 1 MED28 80306 __UNKNOWN__ __UNKNOWN__ 4 17633049 17633049 __UNKNOWN__ 3'UTR SNP A A G rs6818639 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:17633049A>G ENST00000237380.7 + 0 8189 MED28_ENST00000499786.4_Intron|FAM184B_ENST00000265018.3_3'UTR NM_025205.3 NP_079481.2 Q9H204 MED28_HUMAN mediator complex subunit 28 NA NA negative regulation of smooth muscle cell differentiation (GO:0051151)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351) cortical actin cytoskeleton (GO:0030864)|mediator complex (GO:0016592)|membrane (GO:0016020) lung(6)|skin(2) 8 cagcctcccaaagtgttggga 0.468 NA A||| 2702 0.539537 0.1717 0.6643 5008 , , NA 18031 0.8522 NA 0.6262 False NA ,,, NA NA NA 2504 0.5368 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF317678 CCDS33963.1 4p16 2007-07-30 2007-07-30 ENSG00000118579 ENSG00000118579 80306 24628 protein-coding gene gene with protein product 610311 mediator of RNA polymerase II transcription, subunit 28 homolog (S. cerevisiae) NA 11779215, 15467741 Standard NM_025205 NM_025205 NA Approved EG1, DKFZP434N185, magicin uc003gpi.1 Q9H204 OTTHUMG00000161980 ENST00000237380.7:c.*7628A>G chr4.hg19:g.17633049A>G NA Q9BZJ5 hg19 CCDS33963.1 0.02 -0.368022 CCAxAGT COVERED NOVEL MED28-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000360055.3 1 2.407695 KEEP 0 0 0 8 270 AA 0.99257 0.892632 0 + 6 60 234 0 0 18.786317 36 60 1246 57 ENST00000237380.7 0.142857 0.899314 NCAPG 64151 __UNKNOWN__ __UNKNOWN__ 4 17841465 17841465 __UNKNOWN__ Intron SNP A A G rs2286537 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:17841465A>G ENST00000251496.2 + 17 2804 NM_022346.4 NP_071741.2 Q9BPX3 CND3_HUMAN non-SMC condensin I complex, subunit G NA NA mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076) actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634) breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 27 STAD - Stomach adenocarcinoma(129;0.18) CTGGAGGTAAAGTAGTTTCTC 0.308 NA A||| 983 0.196286 0.0257 0.281 5008 , , NA 15436 0.4603 NA 0.2068 False NA ,,, NA NA NA 2504 0.0838 NA NA NA NA 0 A 221,4183 121.7+/-159.2 7,207,1988 38 39 39 2.7 0.8 4 dbSNP_100 39 1604,6996 269.3+/-288.3 153,1298,2849 no intron NCAPG NM_022346.3 160,1505,4837 GG,GA,AA 18.6512,5.0182,14.0341 17841465 1825,11179 2202 4300 6502 SO:0001627 intron_variant AF331796 CCDS3424.1 4p15.32 2014-01-15 ENSG00000109805 ENSG00000109805 64151 24304 protein-coding gene gene with protein product chromosome condensation protein G 606280 NA 10910072, 11136719 Standard NM_022346 NM_022346 NA Approved FLJ12450, hCAP-G, CAP-G, YCG1 uc003gpp.4 Q9BPX3 OTTHUMG00000128539 ENST00000251496.2:c.2628+5A>G chr4.hg19:g.17841465A>G NA Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9 hg19 CCDS3424.1 0.02 2.117504 TAAxGTA COVERED NOVEL NCAPG-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250375.1 1 3.611301 KEEP 0 0 0 12 392 AA 0.993634 0.987376 0 + 7 60 251 0 0 18.796685 58 60 2134 93 ENST00000251496.2 0.107692 0.993703 NCAPG 64151 __UNKNOWN__ __UNKNOWN__ 4 17844029 17844029 __UNKNOWN__ Intron SNP G G A rs17585261 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:17844029G>A ENST00000251496.2 + 20 3100 LCORL_ENST00000326877.4_3'UTR NM_022346.4 NP_071741.2 Q9BPX3 CND3_HUMAN non-SMC condensin I complex, subunit G NA NA mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076) actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634) breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 27 STAD - Stomach adenocarcinoma(129;0.18) TAGAATATATGGAGGCCTATC 0.368 NA A||| 3129 0.6248 0.7927 0.5418 5008 , , NA 18399 0.7827 NA 0.3996 False NA ,,, NA NA NA 2504 0.5256 NA NA NA NA 0 A 3236,1170 407.5+/-334.3 1177,882,144 53 53 53 3.3 0 4 dbSNP_123 53 3633,4963 620.5+/-397.1 767,2099,1432 no intron NCAPG NM_022346.3 1944,2981,1576 AA,AG,GG 42.2638,26.5547,47.1697 17844029 6869,6133 2203 4298 6501 SO:0001627 intron_variant AF331796 CCDS3424.1 4p15.32 2014-01-15 ENSG00000109805 ENSG00000109805 64151 24304 protein-coding gene gene with protein product chromosome condensation protein G 606280 NA 10910072, 11136719 Standard NM_022346 NM_022346 NA Approved FLJ12450, hCAP-G, CAP-G, YCG1 uc003gpp.4 Q9BPX3 OTTHUMG00000128539 ENST00000251496.2:c.2924+27G>A chr4.hg19:g.17844029G>A NA Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9 hg19 CCDS3424.1 0.02 17.130828 TATxGAG COVERED NOVEL NCAPG-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250375.1 2 12.64073 KEEP 0 0 0 42 1483 GG 1 1 0 + 19 60 724 0 0 48.848629 355 60 13289 496 ENST00000251496.2 0.050802 1 NCAPG 64151 __UNKNOWN__ __UNKNOWN__ 4 17845238 17845238 __UNKNOWN__ 3'UTR SNP G G C rs7688403 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:17845238G>C ENST00000251496.2 + 0 3414 LCORL_ENST00000326877.4_3'UTR NM_022346.4 NP_071741.2 Q9BPX3 CND3_HUMAN non-SMC condensin I complex, subunit G NA NA mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076) actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634) breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 27 STAD - Stomach adenocarcinoma(129;0.18) CAGAAAAAGTGTGCATCAGTC 0.393 NA c||| 3132 0.625399 0.7927 0.5418 5008 , , NA 19067 0.7827 NA 0.3996 False NA ,,, NA NA NA 2504 0.5286 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF331796 CCDS3424.1 4p15.32 2014-01-15 ENSG00000109805 ENSG00000109805 64151 24304 protein-coding gene gene with protein product chromosome condensation protein G 606280 NA 10910072, 11136719 Standard NM_022346 NM_022346 NA Approved FLJ12450, hCAP-G, CAP-G, YCG1 uc003gpp.4 Q9BPX3 OTTHUMG00000128539 ENST00000251496.2:c.*190G>C chr4.hg19:g.17845238G>C NA Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9 hg19 CCDS3424.1 0.02 9.408015 AGTxTGC COVERED NOVEL NCAPG-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250375.1 5 2.708874 KEEP 0 0 0 9 322 GG 0.99254 0.99254 0 + 8 60 312 0 0 20.260424 202 60 7531 238 ENST00000251496.2 0.038095 1 NCAPG 64151 __UNKNOWN__ __UNKNOWN__ 4 17845918 17845918 __UNKNOWN__ 3'UTR SNP T T C rs141634099 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:17845918T>C ENST00000251496.2 + 0 4094 LCORL_ENST00000326877.4_3'UTR NM_022346.4 NP_071741.2 Q9BPX3 CND3_HUMAN non-SMC condensin I complex, subunit G NA NA mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076) actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634) breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 27 STAD - Stomach adenocarcinoma(129;0.18) TATATGAAATTGGTCCTCTTT 0.323 NA T||| 2 0.000399361 0.0 0.0 5008 , , NA 18727 0.002 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF331796 CCDS3424.1 4p15.32 2014-01-15 ENSG00000109805 ENSG00000109805 64151 24304 protein-coding gene gene with protein product chromosome condensation protein G 606280 NA 10910072, 11136719 Standard NM_022346 NM_022346 NA Approved FLJ12450, hCAP-G, CAP-G, YCG1 uc003gpp.4 Q9BPX3 OTTHUMG00000128539 ENST00000251496.2:c.*870T>C chr4.hg19:g.17845918T>C NA Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9 hg19 CCDS3424.1 0.02 7.214889 AATxGGT COVERED NOVEL NCAPG-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250375.1 1 12.3376 KEEP 0 0 0 41 1291 TT 1 1 0 + 10 60 330 0 0 19.663059 234 60 8535 335 ENST00000251496.2 0.040984 1 SLIT2 9353 __UNKNOWN__ __UNKNOWN__ 4 20492417 20492417 __UNKNOWN__ Intron SNP G G T rs7695303 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:20492417G>T ENST00000504154.1 + 9 1027 SLIT2_ENST00000503837.1_Intron|SLIT2_ENST00000503823.1_Intron|SLIT2_ENST00000273739.5_Intron NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) NA NA apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657) cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495) NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 TTTCCTTTCTGTTTTCTAGAT 0.318 NA G||| 1277 0.254992 0.4077 0.1974 5008 , , NA 17098 0.2946 NA 0.1849 False NA ,,, NA NA NA 2504 0.1207 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF055585 CCDS3426.1, CCDS75110.1, CCDS75111.1 4p15.2 2008-08-01 2001-11-28 ENSG00000145147 ENSG00000145147 9353 11086 protein-coding gene gene with protein product 603746 slit (Drosophila) homolog 2 SLIL3 NA 9813312, 18269211 Standard XM_005248211 NA Approved Slit-2 uc003gpr.1 O94813 OTTHUMG00000128551 ENST00000504154.1:c.776-967G>T chr4.hg19:g.20492417G>T NA B7ZLR5|O95710|Q17RU3|Q9Y5Q7 hg19 CCDS3426.1 0.02 11.419209 TCTxTTT COVERED NOVEL SLIT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250396.2 4 13.243673 KEEP 0 0 0 44 1600 GG 1 1 0 + 10 60 375 0 0 23.990581 243 60 9380 361 ENST00000504154.1 0.039526 1 SLIT2 9353 __UNKNOWN__ __UNKNOWN__ 4 20544184 20544184 __UNKNOWN__ Silent SNP C C T rs7690492 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:20544184C>T ENST00000504154.1 + 21 2463 c.2211C>T c.(2209-2211)gtC>gtT p.V737V SLIT2_ENST00000503837.1_Silent_p.V733V|SLIT2_ENST00000503823.1_Silent_p.V729V|SLIT2_ENST00000273739.5_Silent_p.V741V|SLIT2_ENST00000509394.2_3'UTR NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 737 LRRNT 4. NA apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657) cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495) NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 TGGATACAGTCGTCCGATGTA 0.413 NA T||| 1762 0.351837 0.4947 0.1758 5008 , , NA 17424 0.373 NA 0.2336 False NA ,,, NA NA NA 2504 0.3834 NA NA NA NA 0 T 2018,2388 613.2+/-392.1 474,1070,659 314 293 300 2211 -11.3 0 4 dbSNP_116 300 1691,6909 738.3+/-407.1 153,1385,2762 no coding-synonymous SLIT2 NM_004787.1 627,2455,3421 TT,TC,CC 19.6628,45.8012,28.5176 737/1530 20544184 3709,9297 2203 4300 6503 SO:0001819 synonymous_variant AF055585 CCDS3426.1, CCDS75110.1, CCDS75111.1 4p15.2 2008-08-01 2001-11-28 ENSG00000145147 ENSG00000145147 9353 11086 protein-coding gene gene with protein product 603746 slit (Drosophila) homolog 2 SLIL3 NA 9813312, 18269211 Standard XM_005248211 NA Approved Slit-2 uc003gpr.1 O94813 OTTHUMG00000128551 ENST00000504154.1:c.2211C>T chr4.hg19:g.20544184C>T NA B7ZLR5|O95710|Q17RU3|Q9Y5Q7 hg19 CCDS3426.1 0.02 17.246972 AGTxGTC COVERED NOVEL SLIT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250396.2 0 15.247474 KEEP 0 1 32 62 2047 CC 1 1 0 + 11 60 412 0 0 24.381494 406 60 14347 591 ENST00000504154.1 0.026379 1 PPARGC1A 10891 __UNKNOWN__ __UNKNOWN__ 4 23795064 23795064 __UNKNOWN__ 3'UTR SNP C C T rs3774923 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:23795064C>T ENST00000264867.2 - 0 4897 PPARGC1A_ENST00000509702.1_Intron NM_013261.3 NP_037393.1 Q9UBK2 PRGC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 alpha NA NA androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367) cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625) central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5) 51 Breast(46;0.0503) AGTGGATTCACTCAGAACACA 0.383 NA C||| 477 0.0952476 0.0439 0.0922 5008 , , NA 19410 0.1706 NA 0.0477 False NA ,,, NA NA NA 2504 0.138 NA NA NA Esophageal Squamous(29;694 744 13796 34866 44181) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF106698 CCDS3429.1 4p15.1 2013-02-12 2006-10-17 2004-02-04 ENSG00000109819 ENSG00000109819 10891 RNA binding motif (RRM) containing 9237 protein-coding gene gene with protein product 604517 peroxisome proliferative activated receptor, gamma, coactivator 1, peroxisome proliferative activated receptor, gamma, coactivator 1, alpha PPARGC1 NA 10585775 Standard NM_013261 NM_013261 NA Approved PGC1, PGC1A uc003gqs.3 Q9UBK2 OTTHUMG00000097747 ENST00000264867.2:c.*2381G>A chr4.hg19:g.23795064C>T NA B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32 hg19 CCDS3429.1 0.02 5.710426 TCAxTCA COVERED NOVEL PPARGC1A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000214976.1 3 6.018524 KEEP 0 0 0 20 696 CC 0.999863 0.999863 0 - 8 60 289 0 0 18.136917 192 60 7239 241 ENST00000264867.2 0.04 1 DHX15 1665 __UNKNOWN__ __UNKNOWN__ 4 24534687 24534687 __UNKNOWN__ Intron SNP T T C rs3828558 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:24534687T>C ENST00000336812.4 - 12 2066 DHX15_ENST00000508032.1_Intron NM_001358.2 NP_001349.2 O43143 DHX15_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 15 NA NA mRNA processing (GO:0006397)|RNA splicing (GO:0008380) nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689) ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724) breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 30 Breast(46;0.0503) TCTAAAAAGGTAGAAGGCGGG 0.398 NA T||| 1324 0.264377 0.1838 0.3314 5008 , , NA 16139 0.3016 NA 0.2127 False NA ,,, NA NA NA 2504 0.3405 NA NA NA NA 0 T 751,3655 301.8+/-287.1 59,633,1511 104 114 111 1.8 0.6 4 dbSNP_107 111 1806,6794 324.2+/-316.4 206,1394,2700 no intron DHX15 NM_001358.2 265,2027,4211 CC,CT,TT 21.0,17.0449,19.6602 24534687 2557,10449 2203 4300 6503 SO:0001627 intron_variant AB001636 CCDS33966.1 4p15.3 2013-05-13 2013-05-13 2003-06-20 ENSG00000109606 ENSG00000109606 1665 DEAH-boxes 2738 protein-coding gene gene with protein product 603403 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 15, DEAH (Asp-Glu-Ala-His) box polypeptide 15 DDX15 NA 9388478 Standard NM_001358 NM_001358 NA Approved HRH2, DBP1, PRP43, PrPp43p, PRPF43 uc003gqx.3 O43143 OTTHUMG00000160304 ENST00000336812.4:c.1910-10A>G chr4.hg19:g.24534687T>C NA Q9NQT7 hg19 CCDS33966.1 0.02 8.593303 AGGxAGA COVERED NOVEL DHX15-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000360143.1 1 24.36635 KEEP 0 0 0 81 2442 TT 1 1 0 - 8 60 298 0 0 18.304221 238 60 8412 426 ENST00000336812.4 0.03252 1 CCDC149 91050 __UNKNOWN__ __UNKNOWN__ 4 24808523 24808523 __UNKNOWN__ 3'UTR SNP G G T rs78968249 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:24808523G>T ENST00000504487.1 - 0 3084 NM_001130726.2 NP_001124198.1 Q6ZUS6 CC149_HUMAN coiled-coil domain containing 149 NA NA cervix(1)|endometrium(1)|large_intestine(2)|lung(3) 7 Breast(46;0.173) GAGCAGCATAGTAAGGGATGG 0.547 NA G||| 173 0.0345447 0.0076 0.0029 5008 , , NA 17861 0.1329 NA 0.0099 False NA ,,, NA NA NA 2504 0.0174 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS33967.1, CCDS47036.1, CCDS33967.2 4p15.2 2008-03-03 ENSG00000181982 91050 25405 protein-coding gene gene with protein product NA 17457313 Standard NM_173463 NM_173463 NA Approved DKFZp761B107 uc003grc.3 Q6ZUS6 ENST00000504487.1:c.*1488C>A chr4.hg19:g.24808523G>T NA A6NJE7|B4DK90|B4DZG3|G5EA04|Q6NW41|Q8N3K8 hg19 CCDS47036.1 0.02 6.296757 ATAxTAA COVERED NOVEL CCDC149-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000360156.1 0 6.01977 KEEP 0 0 0 20 716 GG 0.999863 0.999863 0 - 9 60 308 0 0 19.374513 181 60 6772 239 ENST00000504487.1 0.047368 1 LGI2 55203 __UNKNOWN__ __UNKNOWN__ 4 25001121 25001121 __UNKNOWN__ 3'UTR SNP C C A rs16876553 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:25001121C>A ENST00000382114.4 - 0 5775 NM_018176.3 NP_060646.2 Q8N0V4 LGI2_HUMAN leucine-rich repeat LGI family, member 2 NA NA extracellular region (GO:0005576) breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2) 33 Breast(46;0.173) GTATTCCACTCCAGGAAGCTG 0.473 NA C||| 476 0.0950479 0.0083 0.1455 5008 , , NA 18643 0.2252 NA 0.0199 False NA ,,, NA NA NA 2504 0.1196 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ487516 CCDS3431.1 4p15.31 2008-07-28 ENSG00000153012 ENSG00000153012 55203 18710 protein-coding gene gene with protein product 608301 NA 12023020, 16014869 Standard NM_018176 NA Approved KIAA1916, FLJ10675 uc003grf.2 Q8N0V4 OTTHUMG00000097749 ENST00000382114.4:c.*3952G>T chr4.hg19:g.25001121C>A NA Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4 hg19 CCDS3431.1 0.02 4.047627 ACTxCAG COVERED NOVEL LGI2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000214978.1 1 8.125141 KEEP 0 0 0 27 906 CC 0.999988 0.999988 0 - 7 60 255 0 0 16.77455 133 60 4863 188 ENST00000382114.4 0.05 1 LGI2 55203 __UNKNOWN__ __UNKNOWN__ 4 25001151 25001151 __UNKNOWN__ 3'UTR SNP G G A rs6448322 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:25001151G>A ENST00000382114.4 - 0 5745 NM_018176.3 NP_060646.2 Q8N0V4 LGI2_HUMAN leucine-rich repeat LGI family, member 2 NA NA extracellular region (GO:0005576) breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2) 33 Breast(46;0.173) ATCTTTGGCCGCTGCCTAATT 0.458 NA A||| 3581 0.715056 0.8079 0.6354 5008 , , NA 19164 0.9147 NA 0.4612 False NA ,,, NA NA NA 2504 0.7014 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ487516 CCDS3431.1 4p15.31 2008-07-28 ENSG00000153012 ENSG00000153012 55203 18710 protein-coding gene gene with protein product 608301 NA 12023020, 16014869 Standard NM_018176 NA Approved KIAA1916, FLJ10675 uc003grf.2 Q8N0V4 OTTHUMG00000097749 ENST00000382114.4:c.*3922C>T chr4.hg19:g.25001151G>A NA Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4 hg19 CCDS3431.1 0.02 4.200018 GCCxCTG COVERED NOVEL LGI2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000214978.1 0 4.146713 KEEP 0 1 26 23 795 GG 0.999909 0.999909 0 - 10 60 356 0 0 24.928285 124 60 4466 182 ENST00000382114.4 0.074627 1 LGI2 55203 __UNKNOWN__ __UNKNOWN__ 4 25001439 25001439 __UNKNOWN__ 3'UTR SNP T T C rs7689760 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:25001439T>C ENST00000382114.4 - 0 5457 NM_018176.3 NP_060646.2 Q8N0V4 LGI2_HUMAN leucine-rich repeat LGI family, member 2 NA NA extracellular region (GO:0005576) breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2) 33 Breast(46;0.173) CCAGTGTGCTTCCTGAAGGCT 0.448 NA C||| 2880 0.57508 0.4728 0.5548 5008 , , NA 19948 0.7986 NA 0.4225 False NA ,,, NA NA NA 2504 0.6544 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ487516 CCDS3431.1 4p15.31 2008-07-28 ENSG00000153012 ENSG00000153012 55203 18710 protein-coding gene gene with protein product 608301 NA 12023020, 16014869 Standard NM_018176 NA Approved KIAA1916, FLJ10675 uc003grf.2 Q8N0V4 OTTHUMG00000097749 ENST00000382114.4:c.*3634A>G chr4.hg19:g.25001439T>C NA Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4 hg19 CCDS3431.1 0.02 18.313889 GCTxCCT COVERED NOVEL LGI2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000214978.1 1 30.690751 KEEP 0 0 0 102 3186 TT 1 1 0 - 15 60 563 0 0 35.541292 394 60 14074 612 ENST00000382114.4 0.036675 1 LGI2 55203 __UNKNOWN__ __UNKNOWN__ 4 25001685 25001685 __UNKNOWN__ 3'UTR SNP A A C rs7670138 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:25001685A>C ENST00000382114.4 - 0 5211 NM_018176.3 NP_060646.2 Q8N0V4 LGI2_HUMAN leucine-rich repeat LGI family, member 2 NA NA extracellular region (GO:0005576) breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2) 33 Breast(46;0.173) TGGGGCCTTGAATGTAAAAAG 0.403 NA C||| 2877 0.574481 0.472 0.5548 5008 , , NA 19799 0.7986 NA 0.4215 False NA ,,, NA NA NA 2504 0.6534 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ487516 CCDS3431.1 4p15.31 2008-07-28 ENSG00000153012 ENSG00000153012 55203 18710 protein-coding gene gene with protein product 608301 NA 12023020, 16014869 Standard NM_018176 NA Approved KIAA1916, FLJ10675 uc003grf.2 Q8N0V4 OTTHUMG00000097749 ENST00000382114.4:c.*3388T>G chr4.hg19:g.25001685A>C NA Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4 hg19 CCDS3431.1 0.02 11.769403 TTGxATG COVERED NOVEL LGI2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000214978.1 0 6.918702 KEEP 0 0 0 23 661 AA 0.999892 0.999892 0 - 12 60 464 0 0 30.811363 258 60 9094 300 ENST00000382114.4 0.044444 1 LGI2 55203 __UNKNOWN__ __UNKNOWN__ 4 25001842 25001842 __UNKNOWN__ 3'UTR SNP C C G rs6827675 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:25001842C>G ENST00000382114.4 - 0 5054 NM_018176.3 NP_060646.2 Q8N0V4 LGI2_HUMAN leucine-rich repeat LGI family, member 2 NA NA extracellular region (GO:0005576) breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2) 33 Breast(46;0.173) CAAAATCATGCTAGAAATGAA 0.368 NA C||| 3091 0.617212 0.6271 0.5648 5008 , , NA 18927 0.7986 NA 0.4235 False NA ,,, NA NA NA 2504 0.6534 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ487516 CCDS3431.1 4p15.31 2008-07-28 ENSG00000153012 ENSG00000153012 55203 18710 protein-coding gene gene with protein product 608301 NA 12023020, 16014869 Standard NM_018176 NA Approved KIAA1916, FLJ10675 uc003grf.2 Q8N0V4 OTTHUMG00000097749 ENST00000382114.4:c.*3231G>C chr4.hg19:g.25001842C>G NA Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4 hg19 CCDS3431.1 0.02 1.997989 ATGxTAG COVERED NOVEL LGI2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000214978.1 0 6.315107 KEEP 0 0 0 21 764 CC 0.999869 0.999704 0 - 4 60 139 0 0 8.707189 86 60 3264 133 ENST00000382114.4 0.044444 0.999835 LGI2 55203 __UNKNOWN__ __UNKNOWN__ 4 25001926 25001926 __UNKNOWN__ 3'UTR SNP A A C rs6827553 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:25001926A>C ENST00000382114.4 - 0 4970 NM_018176.3 NP_060646.2 Q8N0V4 LGI2_HUMAN leucine-rich repeat LGI family, member 2 NA NA extracellular region (GO:0005576) breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2) 33 Breast(46;0.173) AGGGAAagttattgctttgcc 0.378 NA C||| 3090 0.617013 0.6278 0.5648 5008 , , NA 18057 0.7986 NA 0.4225 False NA ,,, NA NA NA 2504 0.6524 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ487516 CCDS3431.1 4p15.31 2008-07-28 ENSG00000153012 ENSG00000153012 55203 18710 protein-coding gene gene with protein product 608301 NA 12023020, 16014869 Standard NM_018176 NA Approved KIAA1916, FLJ10675 uc003grf.2 Q8N0V4 OTTHUMG00000097749 ENST00000382114.4:c.*3147T>G chr4.hg19:g.25001926A>C NA Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4 hg19 CCDS3431.1 0.02 2.227638 GTTxTTG COVERED NOVEL LGI2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000214978.1 1 5.714347 KEEP 0 0 0 19 548 AA 0.99986 0.999808 0 - 10 60 374 0 0 28.148519 88 60 3154 128 ENST00000382114.4 0.102041 0.999948 LGI2 55203 __UNKNOWN__ __UNKNOWN__ 4 25002062 25002062 __UNKNOWN__ 3'UTR SNP G G A rs9998936 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:25002062G>A ENST00000382114.4 - 0 4834 NM_018176.3 NP_060646.2 Q8N0V4 LGI2_HUMAN leucine-rich repeat LGI family, member 2 NA NA extracellular region (GO:0005576) breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2) 33 Breast(46;0.173) aatgaggtgagtactaatgtg 0.343 NA A||| 2877 0.574481 0.472 0.5548 5008 , , NA 16337 0.7986 NA 0.4215 False NA ,,, NA NA NA 2504 0.6534 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ487516 CCDS3431.1 4p15.31 2008-07-28 ENSG00000153012 ENSG00000153012 55203 18710 protein-coding gene gene with protein product 608301 NA 12023020, 16014869 Standard NM_018176 NA Approved KIAA1916, FLJ10675 uc003grf.2 Q8N0V4 OTTHUMG00000097749 ENST00000382114.4:c.*3011C>T chr4.hg19:g.25002062G>A NA Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4 hg19 CCDS3431.1 0.02 9.05304 TGAxTAC COVERED NOVEL LGI2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000214978.1 2 14.748353 KEEP 0 0 0 49 1767 GG 1 1 0 - 8 60 302 0 0 19.3479 197 60 7420 321 ENST00000382114.4 0.039024 1 LGI2 55203 __UNKNOWN__ __UNKNOWN__ 4 25002119 25002119 __UNKNOWN__ 3'UTR SNP T T G rs6853990 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:25002119T>G ENST00000382114.4 - 0 4777 NM_018176.3 NP_060646.2 Q8N0V4 LGI2_HUMAN leucine-rich repeat LGI family, member 2 NA NA extracellular region (GO:0005576) breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2) 33 Breast(46;0.173) ggccttatcatCCACTGTCCA 0.403 NA T||| 3369 0.672724 0.6528 0.6254 5008 , , NA 20333 0.9157 NA 0.4602 False NA ,,, NA NA NA 2504 0.7014 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ487516 CCDS3431.1 4p15.31 2008-07-28 ENSG00000153012 ENSG00000153012 55203 18710 protein-coding gene gene with protein product 608301 NA 12023020, 16014869 Standard NM_018176 NA Approved KIAA1916, FLJ10675 uc003grf.2 Q8N0V4 OTTHUMG00000097749 ENST00000382114.4:c.*2954A>C chr4.hg19:g.25002119T>G NA Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4 hg19 CCDS3431.1 0.02 6.641142 TCAxCCA COVERED NOVEL LGI2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000214978.1 2 13.541219 KEEP 0 0 0 45 1451 TT 1 1 0 - 8 60 294 0 0 18.933249 176 60 6321 278 ENST00000382114.4 0.043478 1 LGI2 55203 __UNKNOWN__ __UNKNOWN__ 4 25002250 25002250 __UNKNOWN__ 3'UTR SNP C C T rs9998964 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:25002250C>T ENST00000382114.4 - 0 4646 NM_018176.3 NP_060646.2 Q8N0V4 LGI2_HUMAN leucine-rich repeat LGI family, member 2 NA NA extracellular region (GO:0005576) breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2) 33 Breast(46;0.173) GCCACATGGCCGCACAGAGGG 0.493 NA T||| 2879 0.57488 0.472 0.5562 5008 , , NA 18340 0.7986 NA 0.4225 False NA ,,, NA NA NA 2504 0.6534 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ487516 CCDS3431.1 4p15.31 2008-07-28 ENSG00000153012 ENSG00000153012 55203 18710 protein-coding gene gene with protein product 608301 NA 12023020, 16014869 Standard NM_018176 NA Approved KIAA1916, FLJ10675 uc003grf.2 Q8N0V4 OTTHUMG00000097749 ENST00000382114.4:c.*2823G>A chr4.hg19:g.25002250C>T NA Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4 hg19 CCDS3431.1 0.02 7.176862 GGCxGCA COVERED NOVEL LGI2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000214978.1 2 10.532823 KEEP 0 0 0 35 1172 CC 0.999999 0.999999 0 - 6 60 227 0 0 14.539571 149 60 5196 226 ENST00000382114.4 0.03871 1 LGI2 55203 __UNKNOWN__ __UNKNOWN__ 4 25002284 25002284 __UNKNOWN__ 3'UTR SNP A A G rs10021280 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:25002284A>G ENST00000382114.4 - 0 4612 NM_018176.3 NP_060646.2 Q8N0V4 LGI2_HUMAN leucine-rich repeat LGI family, member 2 NA NA extracellular region (GO:0005576) breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2) 33 Breast(46;0.173) CCTCGCCACAAAGTTCATAAA 0.537 NA G||| 2878 0.574681 0.472 0.5548 5008 , , NA 17653 0.7986 NA 0.4225 False NA ,,, NA NA NA 2504 0.6534 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ487516 CCDS3431.1 4p15.31 2008-07-28 ENSG00000153012 ENSG00000153012 55203 18710 protein-coding gene gene with protein product 608301 NA 12023020, 16014869 Standard NM_018176 NA Approved KIAA1916, FLJ10675 uc003grf.2 Q8N0V4 OTTHUMG00000097749 ENST00000382114.4:c.*2789T>C chr4.hg19:g.25002284A>G NA Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4 hg19 CCDS3431.1 0.02 7.720703 ACAxAGT COVERED NOVEL LGI2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000214978.1 0 10.231191 KEEP 0 0 0 34 1076 AA 0.999998 0.999998 0 - 6 60 241 0 0 16.026651 144 60 5091 218 ENST00000382114.4 0.04 1 LGI2 55203 __UNKNOWN__ __UNKNOWN__ 4 25002608 25002608 __UNKNOWN__ 3'UTR SNP A A T rs12648019 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:25002608A>T ENST00000382114.4 - 0 4288 NM_018176.3 NP_060646.2 Q8N0V4 LGI2_HUMAN leucine-rich repeat LGI family, member 2 NA NA extracellular region (GO:0005576) breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2) 33 Breast(46;0.173) CTCCTTCCACAGCACAGGCGC 0.423 NA A||| 2877 0.574481 0.472 0.5548 5008 , , NA 19791 0.7986 NA 0.4215 False NA ,,, NA NA NA 2504 0.6534 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ487516 CCDS3431.1 4p15.31 2008-07-28 ENSG00000153012 ENSG00000153012 55203 18710 protein-coding gene gene with protein product 608301 NA 12023020, 16014869 Standard NM_018176 NA Approved KIAA1916, FLJ10675 uc003grf.2 Q8N0V4 OTTHUMG00000097749 ENST00000382114.4:c.*2465T>A chr4.hg19:g.25002608A>T NA Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4 hg19 CCDS3431.1 0.02 5.936907 CACxGCA COVERED NOVEL LGI2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000214978.1 1 12.034644 KEEP 0 0 0 40 1245 AA 1 1 0 - 12 60 431 0 0 29.204202 185 60 6699 262 ENST00000382114.4 0.060914 1 LGI2 55203 __UNKNOWN__ __UNKNOWN__ 4 25002612 25002612 __UNKNOWN__ 3'UTR SNP C C T rs12642011 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:25002612C>T ENST00000382114.4 - 0 4284 NM_018176.3 NP_060646.2 Q8N0V4 LGI2_HUMAN leucine-rich repeat LGI family, member 2 NA NA extracellular region (GO:0005576) breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2) 33 Breast(46;0.173) TTCCACAGCACAGGCGCTCTG 0.433 NA T||| 2877 0.574481 0.472 0.5548 5008 , , NA 19774 0.7986 NA 0.4215 False NA ,,, NA NA NA 2504 0.6534 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ487516 CCDS3431.1 4p15.31 2008-07-28 ENSG00000153012 ENSG00000153012 55203 18710 protein-coding gene gene with protein product 608301 NA 12023020, 16014869 Standard NM_018176 NA Approved KIAA1916, FLJ10675 uc003grf.2 Q8N0V4 OTTHUMG00000097749 ENST00000382114.4:c.*2461G>A chr4.hg19:g.25002612C>T NA Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4 hg19 CCDS3431.1 0.02 5.953497 GCAxAGG COVERED NOVEL LGI2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000214978.1 1 12.640085 KEEP 0 0 0 42 1462 CC 1 1 0 - 12 60 425 0 0 28.65653 183 60 6779 261 ENST00000382114.4 0.061538 1 LGI2 55203 __UNKNOWN__ __UNKNOWN__ 4 25003050 25003050 __UNKNOWN__ 3'UTR SNP A A G rs3796784 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:25003050A>G ENST00000382114.4 - 0 3846 NM_018176.3 NP_060646.2 Q8N0V4 LGI2_HUMAN leucine-rich repeat LGI family, member 2 NA NA extracellular region (GO:0005576) breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2) 33 Breast(46;0.173) GCCCAGGTTTATCTGAGTGGT 0.478 NA G||| 2877 0.574481 0.472 0.5548 5008 , , NA 19764 0.7986 NA 0.4215 False NA ,,, NA NA NA 2504 0.6534 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ487516 CCDS3431.1 4p15.31 2008-07-28 ENSG00000153012 ENSG00000153012 55203 18710 protein-coding gene gene with protein product 608301 NA 12023020, 16014869 Standard NM_018176 NA Approved KIAA1916, FLJ10675 uc003grf.2 Q8N0V4 OTTHUMG00000097749 ENST00000382114.4:c.*2023T>C chr4.hg19:g.25003050A>G NA Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4 hg19 CCDS3431.1 0.02 9.161626 TTTxTCT COVERED NOVEL LGI2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000214978.1 1 13.839345 KEEP 0 0 0 46 1403 AA 1 1 0 - 10 60 371 0 0 24.547492 194 60 7082 303 ENST00000382114.4 0.04902 1 LGI2 55203 __UNKNOWN__ __UNKNOWN__ 4 25003120 25003120 __UNKNOWN__ 3'UTR SNP T T C rs3796785 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:25003120T>C ENST00000382114.4 - 0 3776 NM_018176.3 NP_060646.2 Q8N0V4 LGI2_HUMAN leucine-rich repeat LGI family, member 2 NA NA extracellular region (GO:0005576) breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2) 33 Breast(46;0.173) CAAAGCTCTTTCCCTTTCAGC 0.438 NA C||| 2878 0.574681 0.472 0.5548 5008 , , NA 20269 0.7986 NA 0.4215 False NA ,,, NA NA NA 2504 0.6544 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ487516 CCDS3431.1 4p15.31 2008-07-28 ENSG00000153012 ENSG00000153012 55203 18710 protein-coding gene gene with protein product 608301 NA 12023020, 16014869 Standard NM_018176 NA Approved KIAA1916, FLJ10675 uc003grf.2 Q8N0V4 OTTHUMG00000097749 ENST00000382114.4:c.*1953A>G chr4.hg19:g.25003120T>C NA Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4 hg19 CCDS3431.1 0.02 4.582859 CTTxCCC COVERED NOVEL LGI2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000214978.1 1 7.466871 KEEP 0 0 0 25 724 TT 0.999931 0.999931 0 - 11 60 399 1 0 28.570889 125 60 4446 179 ENST00000382114.4 0.080882 1 LGI2 55203 __UNKNOWN__ __UNKNOWN__ 4 25003503 25003503 __UNKNOWN__ 3'UTR SNP G G A rs8235 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:25003503G>A ENST00000382114.4 - 0 3393 NM_018176.3 NP_060646.2 Q8N0V4 LGI2_HUMAN leucine-rich repeat LGI family, member 2 NA NA extracellular region (GO:0005576) breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2) 33 Breast(46;0.173) ATGGCAAATAGTCATTTTACA 0.358 NA A||| 3582 0.715256 0.8079 0.6369 5008 , , NA 22338 0.9147 NA 0.4612 False NA ,,, NA NA NA 2504 0.7014 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ487516 CCDS3431.1 4p15.31 2008-07-28 ENSG00000153012 ENSG00000153012 55203 18710 protein-coding gene gene with protein product 608301 NA 12023020, 16014869 Standard NM_018176 NA Approved KIAA1916, FLJ10675 uc003grf.2 Q8N0V4 OTTHUMG00000097749 ENST00000382114.4:c.*1570C>T chr4.hg19:g.25003503G>A NA Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4 hg19 CCDS3431.1 0.02 10.671125 ATAxTCA COVERED NOVEL LGI2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000214978.1 0 15.650959 KEEP 0 0 0 52 1862 GG 1 1 0 - 12 60 436 0 0 28.014294 258 60 9826 370 ENST00000382114.4 0.044444 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 25507858 25507858 __UNKNOWN__ IGR SNP C C A rs16877207 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:25507858C>A NA NA ANAPC4 (87738 upstream) : RNU7-126P (92327 downstream) NA NA NA GCTGGTACTGCACAACACGTG 0.612 NA C||| 612 0.122204 0.1808 0.0922 5008 , , NA 17655 0.1984 NA 0.0636 False NA ,,, NA NA NA 2504 0.046 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.25507858C>A NA hg19 0.02 3.774887 CTGxACA COVERED NOVEL 0 0 5.417615 KEEP 0 0 0 18 640 CC 0.999859 0.999859 0 7 60 223 0 0 13.823204 130 60 4949 172 0.051095 1 ARAP2 116984 __UNKNOWN__ __UNKNOWN__ 4 36212049 36212049 __UNKNOWN__ Missense_Mutation SNP C C A rs78421449 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:36212049C>A ENST00000303965.4 - 6 1939 c.1450G>T c.(1450-1452)Gtt>Ttt p.V484F NM_015230.3 NP_056045.2 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 484 PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}. NA regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829) ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270) breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1) 82 CCTGATTTAACCTTCTTTGCA 0.373 NA C||| 67 0.0133786 0.0 0.0 5008 , , NA 20619 0.0655 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 87 88 88 NA NA 4 NA 36212049 2203 4299 6502 SO:0001583 missense AF411982 CCDS3441.1 4p15.1 2013-01-11 2008-09-22 2008-09-22 ENSG00000047365 ENSG00000047365 116984 ADP-ribosylation factor GTPase activating proteins, Sterile alpha motif (SAM) domain containing, Pleckstrin homology (PH) domain containing, Ankyrin repeat domain containing 16924 protein-coding gene gene with protein product 606645 centaurin, delta 1 CENTD1 NA Standard NM_015230 NM_015230 NA Approved PARX uc003gsq.2 Q8WZ64 OTTHUMG00000097811 ENST00000303965.4:c.1450G>T chr4.hg19:g.36212049C>A ENSP00000302895:p.Val484Phe NA Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4 hg19 CCDS3441.1 0.02 16.185036 TAAxCTT COVERED 43|43 0.019688644688644688|0.019688644688644688 0|0 0.0|0.0 0|0 0.0|0.0 43|43 0.07517482517482517|0.07517482517482517 0|0 0.0|0.0 C|C 7.054|7.054 0.564982|0.564982 0.13498|0.13498 .|. .|. ENSG00000047365|ENSG00000047365 ENST00000511416|ENST00000303965 .|T .|0.12774 .|2.65 5.44|5.44 3.72|3.72 0.42706|0.42706 .|Pleckstrin homology-type (1);Pleckstrin homology domain (3); .|0.239518 .|0.32687 .|N .|0.005771 T|T 0.01222|0.01222 0.0040|0.0040 L|L 0.56396|0.56396 1.775|1.775 0.21355|0.21355 N|N 0.999711|0.999711 .|P;P .|0.37176 .|0.586;0.47 .|P;B .|0.50570 .|0.644;0.389 T|T 0.01734|0.01734 -1.1285|-1.1285 6|10 0.87932|0.72032 D|D 0|0.01 .|. 9.5355|9.5355 0.39220|0.39220 0.0:0.8333:0.0:0.1667|0.0:0.8333:0.0:0.1667 .|. .|414;484 .|A7E2A5;Q8WZ64 .|.;ARAP2_HUMAN S|F 25|484 .|ENSP00000302895:V484F ENSP00000423886:R25S|ENSP00000302895:V484F R|V -|- 3|1 2|0 ARAP2|ARAP2 35888444|35888444 0.788000|0.788000 0.28762|0.28762 0.198000|0.198000 0.23420|0.23420 0.444000|0.444000 0.32077|0.32077 1.161000|1.161000 0.31773|0.31773 0.671000|0.671000 0.31185|0.31185 0.585000|0.585000 0.79938|0.79938 AGG|GTT NOVEL ARAP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000215074.2 2 9.930833 KEEP 0 0 0 33 1143 CC 0.999998 0.999998 0 - 11 60 399 0 0 23.130461 402 60 15010 524 ENST00000303965.4 0.026634 1 KIAA1239 0 __UNKNOWN__ __UNKNOWN__ 4 37246639 37246639 __UNKNOWN__ 5'UTR SNP C C T rs892826 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:37246639C>T ENST00000309447.5 + 0 798 NM_001144990.1 NP_001138462.1 Q9ULI1 NWD2_HUMAN NA NA breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(2)|skin(2) 16 GGCAGGAACCCGAGGAGCAGG 0.731 NA C||| 730 0.145767 0.0121 0.2839 5008 , , NA 12683 0.1994 NA 0.1909 False NA ,,, NA NA NA 2504 0.1268 NA NA NA NA 0 1 3 3 NA NA 4 NA 37246639 404 1162 1566 SO:0001623 5_prime_UTR_variant NA NA NA NA ENST00000309447.5:c.-51C>T chr4.hg19:g.37246639C>T NA A8MRU1 hg19 CCDS47040.1 0.02 2.082118 ACCxGAG COVERED NOVEL KIAA1239-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347551.2 3 4.514613 KEEP 0 0 0 15 524 CC 0.99649 0.996372 0 + 6 60 225 0 0 15.73843 86 60 2979 121 ENST00000309447.5 0.065217 0.999881 KIAA1239 0 __UNKNOWN__ __UNKNOWN__ 4 37450135 37450135 __UNKNOWN__ 3'UTR SNP A A G rs34994023 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:37450135A>G ENST00000309447.5 + 0 7373 NM_001144990.1 NP_001138462.1 Q9ULI1 NWD2_HUMAN NA NA breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(2)|skin(2) 16 AAAACATTGCATCTCAAAAGG 0.333 NA A||| 1452 0.289936 0.2542 0.2594 5008 , , NA 19481 0.5238 NA 0.1779 False NA ,,, NA NA NA 2504 0.2342 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant NA NA NA NA ENST00000309447.5:c.*1296A>G chr4.hg19:g.37450135A>G NA A8MRU1 hg19 CCDS47040.1 0.02 6.322095 TGCxTCT COVERED NOVEL KIAA1239-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347551.2 0 6.01832 KEEP 0 0 0 20 633 AA 0.999863 0.999863 0 + 6 60 213 0 0 13.17584 147 60 5396 202 ENST00000309447.5 0.039216 1 TLR6 10333 __UNKNOWN__ __UNKNOWN__ 4 38829832 38829832 __UNKNOWN__ Silent SNP T T C rs3775073 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:38829832T>C ENST00000381950.1 - 1 1328 c.1263A>G c.(1261-1263)aaA>aaG p.K421K TLR6_ENST00000436693.2_Silent_p.K421K Q9Y2C9 TLR6_HUMAN toll-like receptor 6 421 NA activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|defense response to bacterium (GO:0042742)|detection of diacyl bacterial lipopeptide (GO:0042496)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 6 signaling pathway (GO:0034150)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124) cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355) diacyl lipopeptide binding (GO:0042498)|lipopeptide binding (GO:0071723)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TGCAGTTTTCTTTATGTCTAC 0.378 NA C||| 2291 0.457468 0.7398 0.3156 5008 , , NA 20740 0.3958 NA 0.3141 False NA ,,, NA NA NA 2504 0.3875 NA NA NA NA 0 C 2910,1496 467.6+/-354.9 953,1004,246 100 107 105 1263 -2.5 0 4 dbSNP_107 105 2942,5658 665.9+/-402.3 519,1904,1877 no coding-synonymous TLR6 NM_006068.4 1472,2908,2123 CC,CT,TT 34.2093,33.9537,44.9946 421/797 38829832 5852,7154 2203 4300 6503 SO:0001819 synonymous_variant CCDS3446.1 4p16.1 2009-11-23 ENSG00000174130 ENSG00000174130 10333 CD molecules 16711 protein-coding gene gene with protein product 605403 NA 10231569 Standard NM_006068 NA Approved CD286 uc010ifg.2 Q9Y2C9 OTTHUMG00000128579 ENST00000381950.1:c.1263A>G chr4.hg19:g.38829832T>C NA B3Y640|B6CH35|B6RFS4|B6RFS5|Q2NKL3 hg19 CCDS3446.1 0.02 20.916544 TTCxTTA COVERED NOVEL TLR6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250431.1 3 20.162054 KEEP 0 0 0 67 2185 TT 1 1 0 - 19 60 717 0 0 45.923629 468 60 17269 672 ENST00000381950.1 0.039014 1 WDR19 57728 __UNKNOWN__ __UNKNOWN__ 4 39255496 39255496 __UNKNOWN__ Intron SNP A A G rs33997556 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:39255496A>G ENST00000399820.3 + 26 3030 WDR19_ENST00000288634.7_Intron NM_025132.3 NP_079408.3 Q8NEZ3 WDR19_HUMAN WD repeat domain 19 NA NA ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391) large_intestine(1) 1 TTATATTAAGAGTCTAGCTAA 0.294 NA A||| 498 0.0994409 0.0272 0.0865 5008 , , NA 17876 0.2054 NA 0.1163 False NA ,,, NA NA NA 2504 0.0798 NA NA NA NA 0 A 129,3467 1,127,1670 79 77 77 -0.6 0 4 dbSNP_126 77 899,7237 51,797,3220 no intron WDR19 NM_025132.3 52,924,4890 GG,GA,AA 11.0497,3.5873,8.7624 39255496 1028,10704 1798 4068 5866 SO:0001627 intron_variant AB046858, AY029257 CCDS47042.1 4p14 2014-02-21 ENSG00000157796 ENSG00000157796 57728 WD repeat domain containing, Intraflagellar transport homologs 18340 protein-coding gene gene with protein product intraflagellar transport 144 homolog (Chlamydomonas) 608151 NA 12906858, 22019273 Standard XM_005262658 NA Approved Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13 uc003gtv.3 Q8NEZ3 OTTHUMG00000160466 ENST00000399820.3:c.2877-30A>G chr4.hg19:g.39255496A>G NA B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4 hg19 CCDS47042.1 0.02 6.818414 AAGxGTC COVERED NOVEL WDR19-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000360689.1 1 6.756719 KEEP 0 1 36 35 1132 AA 0.999999 0.999999 0 + 10 60 371 0 0 24.661037 189 60 6762 267 ENST00000399820.3 0.050251 1 WDR19 57728 __UNKNOWN__ __UNKNOWN__ 4 39271541 39271541 __UNKNOWN__ Intron SNP A A G rs3733280 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:39271541A>G ENST00000399820.3 + 31 3512 WDR19_ENST00000288634.7_Intron NM_025132.3 NP_079408.3 Q8NEZ3 WDR19_HUMAN WD repeat domain 19 NA NA ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391) large_intestine(1) 1 GGGTCCATAGAATGTCCTCAG 0.373 NA A||| 1395 0.278554 0.2678 0.2392 5008 , , NA 22287 0.2629 NA 0.341 False NA ,,, NA NA NA 2504 0.273 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB046858, AY029257 CCDS47042.1 4p14 2014-02-21 ENSG00000157796 ENSG00000157796 57728 WD repeat domain containing, Intraflagellar transport homologs 18340 protein-coding gene gene with protein product intraflagellar transport 144 homolog (Chlamydomonas) 608151 NA 12906858, 22019273 Standard XM_005262658 NA Approved Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13 uc003gtv.3 Q8NEZ3 OTTHUMG00000160466 ENST00000399820.3:c.3359-55A>G chr4.hg19:g.39271541A>G NA B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4 hg19 CCDS47042.1 0.02 10.755294 TAGxATG COVERED NOVEL WDR19-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000360689.1 1 8.125439 KEEP 0 0 0 27 892 AA 0.999988 0.999988 0 + 9 60 332 0 0 20.33816 263 60 9496 334 ENST00000399820.3 0.033088 1 RFC1 5981 __UNKNOWN__ __UNKNOWN__ 4 39289473 39289473 __UNKNOWN__ 3'UTR SNP A A G rs1057807 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:39289473A>G ENST00000381897.1 - 0 4488 RFC1_ENST00000349703.2_3'UTR NM_001204747.1|NM_002913.4 NP_001191676.1|NP_002904.3 P35251 RFC1_HUMAN replication factor C (activator 1) 1, 145kDa NA NA DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283) cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565) haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 16 GTCCCCCACCATAGTGAAATT 0.488 NA G||| 2566 0.51238 0.8434 0.379 5008 , , NA 19255 0.3869 NA 0.4573 False NA ,,, NA NA NA 2504 0.3456 NA NA NA Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L23320 CCDS3450.1, CCDS56329.1 4p14-p13 2010-04-21 2002-08-29 ENSG00000035928 ENSG00000035928 5981 ATPases / AAA-type 9969 protein-coding gene gene with protein product 102579 replication factor C (activator 1) 1 (145kD) NA 8114700 Standard NM_002913 NM_002913 NA Approved A1, PO-GA, RFC140, MHCBFB uc003gty.2 P35251 OTTHUMG00000099363 ENST00000381897.1:c.*908T>C chr4.hg19:g.39289473A>G NA A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46 hg19 CCDS56329.1 0.02 5.789083 ACCxTAG COVERED NOVEL RFC1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000216808.1 0 13.540887 KEEP 0 0 0 45 1405 AA 1 1 0 - 7 60 240 0 0 14.315284 184 60 6833 290 ENST00000381897.1 0.036649 1 RFC1 5981 __UNKNOWN__ __UNKNOWN__ 4 39303925 39303925 __UNKNOWN__ Silent SNP A A G rs2066782 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:39303925A>G ENST00000381897.1 - 19 2644 c.2511T>C c.(2509-2511)tcT>tcC p.S837S RFC1_ENST00000349703.2_Silent_p.S836S NM_001204747.1|NM_002913.4 NP_001191676.1|NP_002904.3 P35251 RFC1_HUMAN replication factor C (activator 1) 1, 145kDa 837 NA DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283) cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565) haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 16 TGGCTCTGTGAGAATCAGCTT 0.363 NA A||| 535 0.106829 0.0151 0.0994 5008 , , NA 19233 0.2192 NA 0.1421 False NA ,,, NA NA NA 2504 0.0838 NA NA NA Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157) NA 0 A , 127,4279 92.0+/-130.7 2,123,2078 144 141 142 2511,2508 2.3 1 4 dbSNP_94 142 1098,7502 229.6+/-264.2 78,942,3280 no coding-synonymous,coding-synonymous RFC1 NM_001204747.1,NM_002913.4 , 80,1065,5358 GG,GA,AA 12.7674,2.8824,9.4187 , 837/1149,836/1148 39303925 1225,11781 2203 4300 6503 SO:0001819 synonymous_variant L23320 CCDS3450.1, CCDS56329.1 4p14-p13 2010-04-21 2002-08-29 ENSG00000035928 ENSG00000035928 5981 ATPases / AAA-type 9969 protein-coding gene gene with protein product 102579 replication factor C (activator 1) 1 (145kD) NA 8114700 Standard NM_002913 NM_002913 NA Approved A1, PO-GA, RFC140, MHCBFB uc003gty.2 P35251 OTTHUMG00000099363 ENST00000381897.1:c.2511T>C chr4.hg19:g.39303925A>G NA A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46 hg19 CCDS56329.1 0.02 14.581016 GTGxGAA COVERED NOVEL RFC1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000216808.1 1 18.355843 KEEP 0 0 0 61 1965 AA 1 1 0 - 13 60 467 0 0 28.483914 356 60 12875 514 ENST00000381897.1 0.03523 1 KLB 152831 __UNKNOWN__ __UNKNOWN__ 4 39409416 39409416 __UNKNOWN__ Intron SNP C C A rs900563 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:39409416C>A ENST00000257408.4 + 1 922 NM_175737.3 NP_783864.1 Q86Z14 KLOTB_HUMAN klotho beta NA NA carbohydrate metabolic process (GO:0005975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6) 29 CTAGCTTCTTCTTATAGCTTC 0.398 NA A||| 1115 0.222644 0.1573 0.2291 5008 , , NA 18442 0.3879 NA 0.1958 False NA ,,, NA NA NA 2504 0.1636 NA NA NA NA 0 A 772,3544 64,644,1450 45 48 47 -8.3 0 4 dbSNP_86 47 1548,6988 146,1256,2866 no intron KLB NM_175737.3 210,1900,4316 AA,AC,CC 18.135,17.8869,18.0517 39409416 2320,10532 2158 4268 6426 SO:0001627 intron_variant AB079373 CCDS3451.1 4p14 2008-02-05 ENSG00000134962 ENSG00000134962 152831 15527 protein-coding gene gene with protein product 611135 NA Standard NM_175737 NM_175737 NA Approved uc003gua.3 Q86Z14 OTTHUMG00000128577 ENST00000257408.4:c.825+22C>A chr4.hg19:g.39409416C>A NA Q2M3K8 hg19 CCDS3451.1 0.02 6.319701 CTTxTTA COVERED NOVEL KLB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250429.1 0 4.148924 KEEP 0 1 32 25 913 CC 0.999957 0.999957 0 + 7 60 261 0 0 16.662493 169 60 6477 241 ENST00000257408.4 0.039773 1 KLB 152831 __UNKNOWN__ __UNKNOWN__ 4 39428893 39428893 __UNKNOWN__ Intron SNP A A G rs149348635 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:39428893A>G ENST00000257408.4 + 2 922 NM_175737.3 NP_783864.1 Q86Z14 KLOTB_HUMAN klotho beta NA NA carbohydrate metabolic process (GO:0005975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6) 29 gcttgaggtcaggagttcaag 0.502 NA A||| 300 0.0599042 0.0424 0.0677 5008 , , NA 17434 0.0218 NA 0.1272 False NA ,,, NA NA NA 2504 0.0481 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB079373 CCDS3451.1 4p14 2008-02-05 ENSG00000134962 ENSG00000134962 152831 15527 protein-coding gene gene with protein product 611135 NA Standard NM_175737 NM_175737 NA Approved uc003gua.3 Q86Z14 OTTHUMG00000128577 ENST00000257408.4:c.826-6937A>G chr4.hg19:g.39428893A>G NA Q2M3K8 hg19 CCDS3451.1 0.02 -0.017547 GTCxGGA UNCOVERED NOVEL KLB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250429.1 1 2.407293 KEEP 1 0 0 8 250 AA 0 0 0 + 2 60 74 0 0 8.354065 0 0 0 15 ENST00000257408.4 1 0 UGDH 7358 __UNKNOWN__ __UNKNOWN__ 4 39507457 39507457 __UNKNOWN__ Intron SNP T T C rs6832089 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:39507457T>C ENST00000316423.6 - 8 1249 UGDH_ENST00000507089.1_Intron|UGDH_ENST00000506179.1_Intron|UGDH_ENST00000501493.2_Intron NM_001184701.1|NM_003359.3 NP_001171630.1|NP_003350.1 O60701 UGDH_HUMAN UDP-glucose 6-dehydrogenase NA NA cellular glucuronidation (GO:0052695)|gastrulation with mouth forming second (GO:0001702)|glycosaminoglycan biosynthetic process (GO:0006024)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|UDP-glucose 6-dehydrogenase activity (GO:0003979) breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2) 27 GTGAGTGCTATTGTACAAATA 0.328 NA T||| 1486 0.296725 0.5219 0.1657 5008 , , NA 16583 0.4067 NA 0.1044 False NA ,,, NA NA NA 2504 0.1697 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF061016 CCDS3455.1, CCDS54757.1, CCDS54758.1 4p14 2011-11-16 2010-04-28 ENSG00000109814 ENSG00000109814 7358 1.1.1.22 12525 protein-coding gene gene with protein product 603370 UDP-glucose dehydrogenase NA 9737970, 10575217 Standard NM_003359 NM_003359 NA Approved uc003guk.2 O60701 OTTHUMG00000099371 ENST00000316423.6:c.907-89A>G chr4.hg19:g.39507457T>C NA B3KUU2|B4DN25|O60589 hg19 CCDS3455.1 0.02 4.520376 CTAxTGT COVERED NOVEL UGDH-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000216818.3 0 4.213263 KEEP 0 0 0 14 469 TT 0.995343 0.995343 0 - 6 60 230 0 0 15.052757 137 70 4882 178 ENST00000316423.6 0.041958 1 UGDH 7358 __UNKNOWN__ __UNKNOWN__ 4 39510175 39510175 __UNKNOWN__ Intron SNP G G A rs6815780 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:39510175G>A ENST00000316423.6 - 7 1249 UGDH_ENST00000507089.1_Intron|UGDH_ENST00000506179.1_Intron|UGDH_ENST00000501493.2_Intron NM_001184701.1|NM_003359.3 NP_001171630.1|NP_003350.1 O60701 UGDH_HUMAN UDP-glucose 6-dehydrogenase NA NA cellular glucuronidation (GO:0052695)|gastrulation with mouth forming second (GO:0001702)|glycosaminoglycan biosynthetic process (GO:0006024)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|UDP-glucose 6-dehydrogenase activity (GO:0003979) breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2) 27 ATTACCTATAGAGATTAATAC 0.438 NA A||| 1485 0.296526 0.5212 0.1657 5008 , , NA 16359 0.4067 NA 0.1044 False NA ,,, NA NA NA 2504 0.1697 NA NA NA NA 0 A ,, 2033,2373 604.4+/-390.3 467,1099,637 49 55 53 ,, 4.7 0.1 4 dbSNP_116 53 850,7750 778.6+/-407.7 37,776,3487 no intron,intron,intron UGDH NM_001184700.1,NM_001184701.1,NM_003359.3 ,, 504,1875,4124 AA,AG,GG 9.8837,46.1416,22.1667 ,, ,, 39510175 2883,10123 2203 4300 6503 SO:0001627 intron_variant AF061016 CCDS3455.1, CCDS54757.1, CCDS54758.1 4p14 2011-11-16 2010-04-28 ENSG00000109814 ENSG00000109814 7358 1.1.1.22 12525 protein-coding gene gene with protein product 603370 UDP-glucose dehydrogenase NA 9737970, 10575217 Standard NM_003359 NM_003359 NA Approved uc003guk.2 O60701 OTTHUMG00000099371 ENST00000316423.6:c.906+10C>T chr4.hg19:g.39510175G>A NA B3KUU2|B4DN25|O60589 hg19 CCDS3455.1 0.02 12.774096 ATAxAGA COVERED NOVEL UGDH-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000216818.3 0 28.592304 KEEP 0 0 0 95 3330 GG 1 1 0 - 9 60 329 0 0 19.481639 304 60 11639 489 ENST00000316423.6 0.028754 1 UGDH 7358 __UNKNOWN__ __UNKNOWN__ 4 39511359 39511359 __UNKNOWN__ Intron SNP T T C rs6531722 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:39511359T>C ENST00000316423.6 - 6 1154 UGDH_ENST00000507089.1_Intron|UGDH_ENST00000506179.1_Intron|UGDH_ENST00000501493.2_Intron NM_001184701.1|NM_003359.3 NP_001171630.1|NP_003350.1 O60701 UGDH_HUMAN UDP-glucose 6-dehydrogenase NA NA cellular glucuronidation (GO:0052695)|gastrulation with mouth forming second (GO:0001702)|glycosaminoglycan biosynthetic process (GO:0006024)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|UDP-glucose 6-dehydrogenase activity (GO:0003979) breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2) 27 ctctTTCTACTAGAGAAAAAT 0.373 NA T||| 1485 0.296526 0.5212 0.1657 5008 , , NA 19052 0.4067 NA 0.1044 False NA ,,, NA NA NA 2504 0.1697 NA NA NA NA 0 T ,, 2033,2373 561.2+/-380.7 466,1101,636 80 83 82 ,, -0.7 0 4 dbSNP_116 82 849,7747 194.4+/-239.8 37,775,3486 no intron,intron,intron UGDH NM_001184700.1,NM_001184701.1,NM_003359.3 ,, 503,1876,4122 CC,CT,TT 9.8767,46.1416,22.1658 ,, ,, 39511359 2882,10120 2203 4298 6501 SO:0001627 intron_variant AF061016 CCDS3455.1, CCDS54757.1, CCDS54758.1 4p14 2011-11-16 2010-04-28 ENSG00000109814 ENSG00000109814 7358 1.1.1.22 12525 protein-coding gene gene with protein product 603370 UDP-glucose dehydrogenase NA 9737970, 10575217 Standard NM_003359 NM_003359 NA Approved uc003guk.2 O60701 OTTHUMG00000099371 ENST00000316423.6:c.811+20A>G chr4.hg19:g.39511359T>C NA B3KUU2|B4DN25|O60589 hg19 CCDS3455.1 0.02 9.152526 TACxAGA COVERED NOVEL UGDH-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000216818.3 1 14.74349 KEEP 0 0 0 49 1515 TT 1 1 0 - 9 60 336 0 0 21.860504 196 60 7276 296 ENST00000316423.6 0.043902 1 UGDH 7358 __UNKNOWN__ __UNKNOWN__ 4 39515655 39515655 __UNKNOWN__ Intron SNP T T C rs10021786 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:39515655T>C ENST00000316423.6 - 3 607 UGDH_ENST00000515398.1_Intron|UGDH_ENST00000507089.1_Intron|UGDH_ENST00000506179.1_Intron|UGDH_ENST00000501493.2_Intron NM_001184701.1|NM_003359.3 NP_001171630.1|NP_003350.1 O60701 UGDH_HUMAN UDP-glucose 6-dehydrogenase NA NA cellular glucuronidation (GO:0052695)|gastrulation with mouth forming second (GO:0001702)|glycosaminoglycan biosynthetic process (GO:0006024)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|UDP-glucose 6-dehydrogenase activity (GO:0003979) breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2) 27 GAAACTTTTATATAGACAAGA 0.303 NA T||| 1430 0.285543 0.4826 0.1599 5008 , , NA 17508 0.4067 NA 0.1044 False NA ,,, NA NA NA 2504 0.1697 NA NA NA NA 0 T ,, 1887,2503 411,1065,719 31 32 32 ,, -6.4 0 4 dbSNP_119 32 844,7730 40,764,3483 no intron,intron,intron UGDH NM_001184700.1,NM_001184701.1,NM_003359.3 ,, 451,1829,4202 CC,CT,TT 9.8437,42.9841,21.066 ,, ,, 39515655 2731,10233 2195 4287 6482 SO:0001627 intron_variant AF061016 CCDS3455.1, CCDS54757.1, CCDS54758.1 4p14 2011-11-16 2010-04-28 ENSG00000109814 ENSG00000109814 7358 1.1.1.22 12525 protein-coding gene gene with protein product 603370 UDP-glucose dehydrogenase NA 9737970, 10575217 Standard NM_003359 NM_003359 NA Approved uc003guk.2 O60701 OTTHUMG00000099371 ENST00000316423.6:c.264+47A>G chr4.hg19:g.39515655T>C NA B3KUU2|B4DN25|O60589 hg19 CCDS3455.1 0.02 -0.307066 TTAxATA COVERED NOVEL UGDH-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000216818.3 0 2.707953 KEEP 0 0 0 9 273 TT 0.99254 0.794276 0 - 3 70 110 0 0 7.985956 32 60 1191 48 ENST00000316423.6 0.085714 0.800245 UGDH 7358 __UNKNOWN__ __UNKNOWN__ 4 39515736 39515736 __UNKNOWN__ Silent SNP A A G rs10019532 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:39515736A>G ENST00000316423.6 - 3 573 c.231T>C c.(229-231)gaT>gaC p.D77D UGDH_ENST00000515398.1_5'UTR|UGDH_ENST00000507089.1_5'UTR|UGDH_ENST00000506179.1_Silent_p.D77D|UGDH_ENST00000501493.2_Silent_p.D77D NM_001184701.1|NM_003359.3 NP_001171630.1|NP_003350.1 O60701 UGDH_HUMAN UDP-glucose 6-dehydrogenase 77 NA cellular glucuronidation (GO:0052695)|gastrulation with mouth forming second (GO:0001702)|glycosaminoglycan biosynthetic process (GO:0006024)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|UDP-glucose 6-dehydrogenase activity (GO:0003979) breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2) 27 CTTTGATGGCATCATCAATAT 0.284 NA A||| 1430 0.285543 0.4826 0.1599 5008 , , NA 18043 0.4067 NA 0.1044 False NA ,,, NA NA NA 2504 0.1697 NA NA NA NA 0 A ,, 1889,2511 520.4+/-370.3 407,1075,718 69 79 75 231,,231 -0.2 1 4 dbSNP_119 75 847,7739 192.3+/-238.3 37,773,3483 no coding-synonymous,utr-5,coding-synonymous UGDH NM_001184700.1,NM_001184701.1,NM_003359.3 ,, 444,1848,4201 GG,GA,AA 9.8649,42.9318,21.0688 ,, 77/428,,77/495 39515736 2736,10250 2200 4293 6493 SO:0001819 synonymous_variant AF061016 CCDS3455.1, CCDS54757.1, CCDS54758.1 4p14 2011-11-16 2010-04-28 ENSG00000109814 ENSG00000109814 7358 1.1.1.22 12525 protein-coding gene gene with protein product 603370 UDP-glucose dehydrogenase NA 9737970, 10575217 Standard NM_003359 NM_003359 NA Approved uc003guk.2 O60701 OTTHUMG00000099371 ENST00000316423.6:c.231T>C chr4.hg19:g.39515736A>G NA B3KUU2|B4DN25|O60589 hg19 CCDS3455.1 0.02 1.798555 GGCxTCA COVERED NOVEL UGDH-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000216818.3 0 8.726192 KEEP 0 0 0 29 907 AA 0.999997 0.999832 0 - 6 60 210 0 0 14.294231 84 60 3127 148 ENST00000316423.6 0.066667 0.999835 UGDH 7358 __UNKNOWN__ __UNKNOWN__ 4 39528752 39528752 __UNKNOWN__ Intron SNP G G A rs4975020 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:39528752G>A ENST00000316423.6 - 1 336 UGDH_ENST00000515398.1_Intron|UGDH_ENST00000507089.1_Intron|UGDH_ENST00000501493.2_Intron NM_001184701.1|NM_003359.3 NP_001171630.1|NP_003350.1 O60701 UGDH_HUMAN UDP-glucose 6-dehydrogenase NA NA cellular glucuronidation (GO:0052695)|gastrulation with mouth forming second (GO:0001702)|glycosaminoglycan biosynthetic process (GO:0006024)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|UDP-glucose 6-dehydrogenase activity (GO:0003979) breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2) 27 AAGCCCCAAAGAGACGAAGGT 0.642 NA G||| 3711 0.741014 0.646 0.7882 5008 , , NA 14844 0.8929 NA 0.6909 False NA ,,, NA NA NA 2504 0.7311 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF061016 CCDS3455.1, CCDS54757.1, CCDS54758.1 4p14 2011-11-16 2010-04-28 ENSG00000109814 ENSG00000109814 7358 1.1.1.22 12525 protein-coding gene gene with protein product 603370 UDP-glucose dehydrogenase NA 9737970, 10575217 Standard NM_003359 NM_003359 NA Approved uc003guk.2 O60701 OTTHUMG00000099371 ENST00000316423.6:c.6+150C>T chr4.hg19:g.39528752G>A NA B3KUU2|B4DN25|O60589 hg19 CCDS3455.1 0.02 7.648128 AAAxAGA COVERED NOVEL UGDH-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000216818.3 2 48.289131 KEEP 0 1 21 168 5918 GG 1 1 0 - 8 60 286 0 0 17.192705 232 60 8781 523 ENST00000316423.6 0.033333 1 PDS5A 23244 __UNKNOWN__ __UNKNOWN__ 4 39974888 39974888 __UNKNOWN__ Intron SNP G G C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:39974888G>C ENST00000303538.8 - 2 678 PDS5A_ENST00000503396.1_Intron NM_001100399.1 NP_001093869.1 PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) NA NA breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1) 39 ATTTGCTTTTGCTCTTGAGGG 0.458 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF294791 CCDS47045.1, CCDS54759.1 4p14 2007-06-20 ENSG00000121892 ENSG00000121892 23244 29088 protein-coding gene gene with protein product 613200 NA 11076961, 15855230 Standard NM_015200 NM_001100399 NA Approved KIAA0648, PIG54, SCC-112 uc003guv.4 Q29RF7 OTTHUMG00000160582 ENST00000303538.8:c.138+3171C>G chr4.hg19:g.39974888G>C NA hg19 CCDS47045.1 0.02 4.494108 TTTxCTC COVERED NOVEL PDS5A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000361287.1 4 5.754369 KEEP 1 1 34 31 1113 GG 0.999997 0.999997 0 - 9 60 343 0 0 23.920641 137 60 5107 208 ENST00000303538.8 0.061644 1 TMEM33 55161 __UNKNOWN__ __UNKNOWN__ 4 41956413 41956413 __UNKNOWN__ 3'UTR SNP C C T rs1507086 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:41956413C>T ENST00000504986.1 + 0 1306 TMEM33_ENST00000325094.5_3'UTR NM_018126.2 NP_060596.2 P57088 TMM33_HUMAN transmembrane protein 33 NA NA extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|melanosome (GO:0042470) endometrium(1)|large_intestine(3)|lung(4)|ovary(1) 9 AATTTTACTGCGCTGTGTTGC 0.284 NA C||| 3063 0.611621 0.0575 0.7522 5008 , , NA 19239 0.9544 NA 0.7376 False NA ,,, NA NA NA 2504 0.7781 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC000948 CCDS3464.1 4p14 2008-02-05 ENSG00000109133 ENSG00000109133 55161 25541 protein-coding gene gene with protein product NA 12477932 Standard NM_018126 NM_018126 NA Approved FLJ10525 uc003gwi.2 P57088 OTTHUMG00000099381 ENST00000504986.1:c.*197C>T chr4.hg19:g.41956413C>T NA B3KSS8|Q9H953 hg19 CCDS3464.1 0.02 10.49433 CTGxGCT COVERED NOVEL TMEM33-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000216834.2 1 8.296999 KEEP 0 2 64 50 1756 CC 1 1 0 + 12 60 413 0 0 25.553207 267 60 9224 387 ENST00000504986.1 0.043011 1 SHISA3 152573 __UNKNOWN__ __UNKNOWN__ 4 42400112 42400112 __UNKNOWN__ Missense_Mutation SNP G G T rs11733156 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:42400112G>T ENST00000319234.4 + 1 257 c.39G>T c.(37-39)tgG>tgT p.W13C NM_001080505.1 NP_001073974.1 A0PJX4 SHSA3_HUMAN shisa family member 3 13 NA W -> C (in dbSNP:rs11733156). {ECO:0000269|PubMed:15489334}. multicellular organismal development (GO:0007275) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 12 TCCTTGGCTGGCTGCGCTGGG 0.706 NA G||| 1027 0.205072 0.2231 0.281 5008 , , NA 14398 0.1339 NA 0.2306 False NA ,,, NA NA NA 2504 0.1738 NA NA NA NA 0 G CYS/TRP 1029,3285 140,749,1268 8 9 9 39 4.4 1 4 dbSNP_120 9 2011,6359 280,1451,2454 no missense SHISA3 NM_001080505.1 215 420,2200,3722 TT,TG,GG 24.0263,23.8526,23.9672 benign 13/239 42400112 3040,9644 2157 4185 6342 SO:0001583 missense BC012029 CCDS33979.1 4p13 2013-07-31 2013-07-31 ENSG00000178343 ENSG00000178343 152573 Shisa homologs 25159 protein-coding gene gene with protein product shisa homolog 3 (Xenopus laevis) NA Standard NM_001080505 NM_001080505 NA Approved hShisa3 uc003gwp.3 A0PJX4 OTTHUMG00000161043 ENST00000319234.4:c.39G>T chr4.hg19:g.42400112G>T ENSP00000326445:p.Trp13Cys NA A0PJX3|Q96EQ5 hg19 CCDS33979.1 0.02 6.263979 CTGxCTG COVERED 430 0.19688644688644688 91 0.18495934959349594 95 0.26243093922651933 67 0.11713286713286714 177 0.23350923482849603 G 12.01 1.809960 0.31961 0.238526 0.240263 ENSG00000178343 ENST00000319234 T 0.42900 0.96 4.38 4.38 0.52667 . 0.492839 0.19949 N 0.102464 T 0.00012 0.0000 N 0.14661 0.345 0.25425 P 0.9882369 B 0.27732 0.187 B 0.26614 0.071 T 0.16660 -1.0395 9 0.51188 T 0.08 -2.9601 11.1392 0.48392 0.0:0.0:0.8152:0.1848 rs11733156;rs59183676 13 A0PJX4 SHSA3_HUMAN C 13 ENSP00000326445:W13C ENSP00000326445:W13C W + 3 0 SHISA3 42094869 1.000000 0.71417 0.996000 0.52242 0.684000 0.39900 1.787000 0.38704 2.247000 0.74100 0.467000 0.42956 TGG NOVEL SHISA3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000363539.1 0 10.834869 KEEP 0 0 0 36 1275 GG 0.999999 0.999999 0 + 7 60 252 0 0 15.890398 162 60 5986 248 ENST00000319234.4 0.04142 1 GABRA2 2555 __UNKNOWN__ __UNKNOWN__ 4 46263391 46263391 __UNKNOWN__ Intron SNP C C A rs526805 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:46263391C>A ENST00000507069.1 - 8 1066 GABRA2_ENST00000540012.1_Intron|GABRA2_ENST00000514090.1_Intron|GABRA2_ENST00000356504.1_Intron|GABRA2_ENST00000510861.1_Intron|GABRA2_ENST00000515082.1_3'UTR|GABRA2_ENST00000381620.4_Intron P47869 GBRA2_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 2 NA NA gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085) axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211) benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890) NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 56 Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198) CTTTTACAATCAATCAGCAGA 0.323 NA C||| 3029 0.604832 0.6157 0.513 5008 , , NA 16506 0.5218 NA 0.5775 False NA ,,, NA NA NA 2504 0.7689 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS3471.1 4p12 2012-06-22 ENSG00000151834 ENSG00000151834 2555 GABA receptors, Ligand-gated ion channels / GABA(A) receptors 4076 protein-coding gene gene with protein product GABA(A) receptor, alpha 2 137140 NA Standard NM_000807 NA Approved uc010igc.2 P47869 OTTHUMG00000044266 ENST00000507069.1:c.1059+551G>T chr4.hg19:g.46263391C>A NA A8K0U7|B7Z1H8|Q59G14 hg19 0.02 9.931522 AATxAAT COVERED NOVEL GABRA2-013 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000363658.1 3 3.077758 KEEP 0 2 56 30 1049 CC 0.999997 0.999997 0 - 11 60 390 0 0 24.64544 240 60 9116 331 ENST00000507069.1 0.043825 1 GABRA2 2555 __UNKNOWN__ __UNKNOWN__ 4 46391064 46391064 __UNKNOWN__ Intron SNP T T C rs3756007 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:46391064T>C ENST00000507460.1 - 1 323 GABRA2_ENST00000540012.1_Intron|GABRA2_ENST00000514090.1_Intron|GABRA2_ENST00000356504.1_5'UTR|GABRA2_ENST00000510861.1_Intron|GABRA2_ENST00000515082.1_Intron|GABRA2_ENST00000381620.4_Intron P47869 GBRA2_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 2 NA NA gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085) axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211) benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890) NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 56 Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198) CACGTAATAATAACACCCTGG 0.502 NA T||| 454 0.090655 0.0038 0.2075 5008 , , NA 16389 0.1994 NA 0.0616 False NA ,,, NA NA NA 2504 0.0429 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS3471.1 4p12 2012-06-22 ENSG00000151834 ENSG00000151834 2555 GABA receptors, Ligand-gated ion channels / GABA(A) receptors 4076 protein-coding gene gene with protein product GABA(A) receptor, alpha 2 137140 NA Standard NM_000807 NA Approved uc010igc.2 P47869 OTTHUMG00000044266 ENST00000507460.1:c.9+180A>G chr4.hg19:g.46391064T>C NA A8K0U7|B7Z1H8|Q59G14 hg19 0.02 7.207825 TAAxAAC COVERED NOVEL GABRA2-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000360846.2 4 13.237442 KEEP 0 0 0 44 1329 TT 1 1 0 - 7 60 275 0 0 17.682012 192 60 6852 297 ENST00000507460.1 0.035176 1 TXK 7294 __UNKNOWN__ __UNKNOWN__ 4 48069696 48069696 __UNKNOWN__ Silent SNP G G C rs2230594 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:48069696G>C ENST00000264316.4 - 15 1627 c.1542C>G c.(1540-1542)gcC>gcG p.A514A TXK_ENST00000507351.1_Silent_p.A169A NM_003328.2 NP_003319.2 P42681 TXK_HUMAN TXK tyrosine kinase 514 Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}. NA activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cytokine production (GO:0001816)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|RNA polymerase II regulatory region DNA binding (GO:0001012) breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2) 25 GCAGCAGCTCGGCAAATGTAG 0.488 NA G||| 2174 0.434105 0.2874 0.5692 5008 , , NA 16804 0.4306 NA 0.5229 False NA ,,, NA NA NA 2504 0.4489 NA NA NA NA 0 G 1438,2968 465.9+/-354.3 247,944,1012 100 106 104 1542 -0.6 0.9 4 dbSNP_98 104 4524,4076 594.0+/-393.2 1201,2122,977 no coding-synonymous TXK NM_003328.2 1448,3066,1989 CC,CG,GG 47.3953,32.6373,45.8404 514/528 48069696 5962,7044 2203 4300 6503 SO:0001819 synonymous_variant L27071 CCDS3480.1 4p12 2013-02-14 2003-04-01 ENSG00000074966 ENSG00000074966 7294 2.7.10.1 SH2 domain containing 12434 protein-coding gene gene with protein product 600058 PTK4 protein tyrosine kinase 4 PTK4 NA 7951233, 7528718 Standard NM_003328 NM_003328 NA Approved TKL, PSCTK5, BTKL, RLK uc003gxx.4 P42681 OTTHUMG00000102065 ENST00000264316.4:c.1542C>G chr4.hg19:g.48069696G>C NA Q14220 hg19 CCDS3480.1 0.02 18.087423 CTCxGCA COVERED NOVEL TXK-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000219869.7 2 18.660616 KEEP 0 0 0 62 2171 GG 1 1 0 - 17 60 569 0 0 32.169671 529 60 19322 730 ENST00000264316.4 0.031136 1 TXK 7294 __UNKNOWN__ __UNKNOWN__ 4 48069725 48069725 __UNKNOWN__ Intron SNP G G A rs9996535 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:48069725G>A ENST00000264316.4 - 15 1601 TXK_ENST00000507351.1_Intron NM_003328.2 NP_003319.2 P42681 TXK_HUMAN TXK tyrosine kinase NA NA activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cytokine production (GO:0001816)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|RNA polymerase II regulatory region DNA binding (GO:0001012) breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2) 25 TCAGGTTTCTGGAAAAGGGAA 0.522 NA G||| 2174 0.434105 0.2874 0.5692 5008 , , NA 16363 0.4306 NA 0.5229 False NA ,,, NA NA NA 2504 0.4489 NA NA NA NA 0 G 1437,2969 464.3+/-353.8 246,945,1012 78 81 80 3.2 1 4 dbSNP_119 80 4525,4075 593.9+/-393.2 1201,2123,976 no intron TXK NM_003328.2 1447,3068,1988 AA,AG,GG 47.3837,32.6146,45.8404 48069725 5962,7044 2203 4300 6503 SO:0001627 intron_variant L27071 CCDS3480.1 4p12 2013-02-14 2003-04-01 ENSG00000074966 ENSG00000074966 7294 2.7.10.1 SH2 domain containing 12434 protein-coding gene gene with protein product 600058 PTK4 protein tyrosine kinase 4 PTK4 NA 7951233, 7528718 Standard NM_003328 NM_003328 NA Approved TKL, PSCTK5, BTKL, RLK uc003gxx.4 P42681 OTTHUMG00000102065 ENST00000264316.4:c.1516-3C>T chr4.hg19:g.48069725G>A NA Q14220 hg19 CCDS3480.1 0.02 20.671932 TCTxGAA COVERED NOVEL TXK-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000219869.7 2 13.243013 KEEP 0 0 0 44 1546 GG 1 1 0 - 14 60 530 0 0 32.514236 443 60 16322 563 ENST00000264316.4 0.030635 1 SLAIN2 57606 __UNKNOWN__ __UNKNOWN__ 4 48372063 48372063 __UNKNOWN__ Intron SNP C C A rs138077488 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:48372063C>A ENST00000264313.6 + 2 956 SLAIN2_ENST00000506375.1_Intron NM_020846.1 NP_065897.1 Q9P270 SLAI2_HUMAN SLAIN motif family, member 2 NA NA cytoplasmic microtubule organization (GO:0031122)|microtubule nucleation (GO:0007020)|positive regulation of microtubule polymerization (GO:0031116) centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1) 13 TTTCTTTAGTCAAAAACCATA 0.308 NA C||| 13 0.00259585 0.0 0.0 5008 , , NA 17387 0.0129 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 46 42 44 NA NA 4 NA 48372063 1816 4078 5894 SO:0001627 intron_variant BC006139 CCDS47051.1 4p12 2008-02-05 2006-09-12 2006-09-12 ENSG00000109171 ENSG00000109171 57606 29282 protein-coding gene gene with protein product 610492 KIAA1458 KIAA1458 NA 16546155 Standard NM_020846 NM_020846 NA Approved FLJ21611 uc003gya.4 Q9P270 OTTHUMG00000161701 ENST00000264313.6:c.538+49C>A chr4.hg19:g.48372063C>A NA A8K4P1|Q8N5R3 hg19 CCDS47051.1 0.02 3.69293 AGTxAAA COVERED NOVEL SLAIN2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000365807.4 0 3.009733 KEEP 0 0 0 10 350 CC 0.992708 0.992708 0 + 5 60 178 0 0 10.935894 128 60 4766 148 ENST00000264313.6 0.037594 1 SLC10A4 201780 __UNKNOWN__ __UNKNOWN__ 4 48486193 48486193 __UNKNOWN__ Intron SNP C C G rs6845250 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:48486193C>G ENST00000273861.4 + 1 809 NM_152679.3 NP_689892.1 Q96EP9 NTCP4_HUMAN solute carrier family 10, member 4 NA NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) bile acid:sodium symporter activity (GO:0008508) central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 6 ATTCCTTGGGCATCTGTCTCA 0.572 NA c||| 801 0.159944 0.1679 0.1124 5008 , , NA 19404 0.1171 NA 0.2167 False NA ,,, NA NA NA 2504 0.1687 NA NA NA NA 0 783,3623 291.0+/-281.2 81,621,1501 46 41 43 3.3 0 4 dbSNP_116 43 1898,6702 310.8+/-310.0 221,1456,2623 no intron SLC10A4 NM_152679.3 302,2077,4124 GG,GC,CC 22.0698,17.7712,20.6136 48486193 2681,10325 2203 4300 6503 SO:0001627 intron_variant BC012048 CCDS3482.1 4p12 2013-07-18 2013-07-18 ENSG00000145248 ENSG00000145248 201780 Solute carriers 22980 protein-coding gene gene with protein product NA Standard NM_152679 NM_152679 NA Approved MGC29802 uc003gyc.2 Q96EP9 OTTHUMG00000102092 ENST00000273861.4:c.590+25C>G chr4.hg19:g.48486193C>G NA Q8WUZ2 hg19 CCDS3482.1 0.02 16.153693 GGGxATC COVERED NOVEL SLC10A4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000219926.3 1 4.689309 KEEP 0 2 76 42 1498 CC 1 1 0 + 12 60 437 0 0 26.281898 371 60 14206 524 ENST00000273861.4 0.031332 1 CWH43 80157 __UNKNOWN__ __UNKNOWN__ 4 48996673 48996673 __UNKNOWN__ Silent SNP T T C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:48996673T>C ENST00000513409.1 + 5 653 c.468T>C c.(466-468)ggT>ggC p.G156G CWH43_ENST00000226432.4_Silent_p.G183G Q9H720 PG2IP_HUMAN cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) 183 NA GPI anchor biosynthetic process (GO:0006506) integral component of membrane (GO:0016021) cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 AGAAGACTGGTGAGGTAGCCA 0.438 NA NA NA NA NA NA NA NA NA NA NA 0 89 95 93 NA NA 4 NA 48996673 2203 4300 6503 SO:0001819 synonymous_variant CCDS3486.1, CCDS68697.1 4p12-p11 2010-09-21 ENSG00000109182 ENSG00000109182 80157 26133 protein-coding gene gene with protein product NA 17714445, 17761529 Standard NM_025087 NM_025087 NA Approved FLJ21511, CWH43-C uc003gyv.3 Q9H720 OTTHUMG00000128627 ENST00000513409.1:c.468T>C chr4.hg19:g.48996673T>C NA B2RPD7 hg19 0.02 4.05651 TGGxGAG COVERED NOVEL CWH43-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000361404.2 0 5.415482 KEEP 0 0 0 18 553 TT 0.999859 0.999859 0 + 5 60 183 0 0 11.338454 134 60 4799 199 ENST00000513409.1 0.035971 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49100615 49100615 __UNKNOWN__ IGR SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:49100615C>T NA NA CWH43 (36519 upstream) : AC118282.3 (98604 downstream) NA NA NA cgttccgttccgttcctttcc 0.428 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.49100615C>T NA hg19 0.02 -0.245633 TTCxGTT UNCOVERED NOVEL 0 13 3.611421 KEEP 16 0 0 12 397 CC 0 0 0 3 50 112 0 0 11.655648 1 6 25 66 0.75 0.641347 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49142585 49142585 __UNKNOWN__ IGR SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:49142585C>T NA NA CWH43 (78489 upstream) : AC118282.3 (56634 downstream) NA NA NA cgttccgttccgttccattcc 0.443 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.49142585C>T NA hg19 0.02 2.131873 TTCxGTT COVERED NOVEL 0 63 6.319718 KEEP 35 0 0 21 708 CC 0.997832 0.968715 0 3 54 112 0 0 8.648076 22 60 748 123 0.12 0.97082 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49156917 49156917 __UNKNOWN__ IGR SNP T T A rs62639929 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:49156917T>A NA NA CWH43 (92821 upstream) : AC118282.3 (42302 downstream) NA NA NA ccacacgggttaattccattc 0.413 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.49156917T>A NA hg19 0.02 -0.026319 GGTxAAT UNCOVERED NOVEL 0 7 3.610269 KEEP 10 0 0 12 364 TT 0 0 0 2 60 71 0 0 8.053996 0 0 0 24 1 0 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49159852 49159852 __UNKNOWN__ IGR SNP G G C rs7657759 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:49159852G>C NA NA CWH43 (95756 upstream) : AC118282.3 (39367 downstream) NA NA NA tcagcctctggagtagctgga 0.512 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.49159852G>C NA hg19 0.02 -0.228103 CTGxAGT COVERED NOVEL 0 2 3.310254 KEEP 3 0 0 11 364 GG 0.99254 0.578582 0 4 52 150 0 0 12.662014 15 60 561 42 0.210526 0.58293 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49160711 49160711 __UNKNOWN__ IGR SNP C C T rs111739013 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:49160711C>T NA NA CWH43 (96615 upstream) : AC118282.3 (38508 downstream) NA NA NA gccttggcctcccaaagtgct 0.463 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.49160711C>T NA hg19 0.02 -0.324594 CCTxCCA COVERED NOVEL 0 12 3.581278 KEEP 9 2 63 34 1200 CC 0.999997 0.835714 0 3 49 106 0 0 8.226336 19 60 723 111 0.136364 0.835716 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49165445 49165445 __UNKNOWN__ IGR SNP A A T rs2932367 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:49165445A>T NA NA CWH43 (101349 upstream) : AC118282.3 (33774 downstream) NA NA NA GGGCAGAAGAATCTGGGACCA 0.488 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.49165445A>T NA hg19 0.02 6.496266 AGAxTCT COVERED NOVEL 0 0 14.174006 KEEP 55 1 22 55 1705 AA 1 1 0 19 46 697 1 0 52.661775 156 60 5569 298 0.108571 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49165474 49165474 __UNKNOWN__ IGR SNP C C T rs2932366 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:49165474C>T NA NA CWH43 (101378 upstream) : AC118282.3 (33745 downstream) NA NA NA CAGTTCTCTCCTTAATCCACG 0.473 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.49165474C>T NA hg19 0.02 14.170477 CTCxTTA COVERED NOVEL 0 3 2.650489 KEEP 133 7 223 87 3077 CC 1 1 0 45 60 1668 0 0 133.77471 247 60 9201 665 0.15411 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49179906 49179906 __UNKNOWN__ IGR SNP G G A rs148431102 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:49179906G>A NA NA CWH43 (115810 upstream) : AC118282.3 (19313 downstream) NA NA NA atgtgggcaagtagaaggtga 0.507 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.49179906G>A NA hg19 0.02 -0.350936 CAAxTAG COVERED NOVEL 0 0 2.407224 KEEP 4 0 0 8 264 GG 0.99257 0.882271 0 3 47 107 0 0 7.725628 31 48 1188 64 0.088235 0.888875 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49179989 49179989 __UNKNOWN__ IGR SNP C C T rs75421697 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:49179989C>T NA NA CWH43 (115893 upstream) : AC118282.3 (19230 downstream) NA NA NA ctcctttctgcaggcaggtca 0.532 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.49179989C>T NA hg19 0.02 -0.315826 CTGxAGG COVERED NOVEL 0 1 2.407079 KEEP 1 0 0 8 278 CC 0.99257 0.812384 0 3 60 93 0 0 6.697038 23 60 881 52 0.115385 0.818465 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49179990 49179990 __UNKNOWN__ IGR SNP A A T rs150521345 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:49179990A>T NA NA CWH43 (115894 upstream) : AC118282.3 (19229 downstream) NA NA NA tcctttctgcaggcaggtcat 0.537 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.49179990A>T NA hg19 0.02 -0.307068 TGCxGGC COVERED NOVEL 0 1 2.407344 KEEP 1 0 0 8 253 AA 0.99257 0.812384 0 3 60 110 0 0 8.393678 23 60 873 52 0.115385 0.818465 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49195823 49195823 __UNKNOWN__ IGR SNP T T C rs59744382 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:49195823T>C NA NA CWH43 (131727 upstream) : AC118282.3 (3396 downstream) NA NA NA gtcacacctgtaatcctagca 0.512 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.49195823T>C NA hg19 0.02 -0.078959 CTGxAAT UNCOVERED NOVEL 0 2 2.707487 KEEP 2 0 0 9 264 GT 0.99257 0.076761 0 2 23 77 0 0 6.583906 7 60 252 25 0.222222 0.077336 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49239455 49239455 __UNKNOWN__ IGR SNP G G A rs2948401 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:49239455G>A NA NA AC118282.4 (27990 upstream) : AC119751.5 (345586 downstream) NA NA NA gaagacaataggaaaataatc 0.343 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.49239455G>A NA hg19 0.02 1.921207 ATAxGAA COVERED NOVEL 0 0 2.708733 KEEP 1 0 0 9 319 GG 0.99254 0.991416 0 7 27 256 0 0 18.796102 69 60 2594 108 0.092105 0.998867 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49239776 49239776 __UNKNOWN__ IGR SNP A A G rs3929471 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:49239776A>G NA NA AC118282.4 (28311 upstream) : AC119751.5 (345265 downstream) NA NA NA AGTATGTCAAACTCAATAATA 0.294 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.49239776A>G NA hg19 0.02 -0.377193 CAAxCTC UNCOVERED NOVEL 0 0 2.70853 KEEP 32 0 0 9 298 AA 0 0 0 12 27 460 0 0 40.811705 30 60 1112 111 0.285714 0.909069 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49239827 49239827 __UNKNOWN__ IGR SNP C C T rs200874712 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:49239827C>T NA NA AC118282.4 (28362 upstream) : AC119751.5 (345214 downstream) NA NA NA CTTAAGGAGGCTAAAAAACAT 0.274 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.49239827C>T NA hg19 0.02 -0.30679 AGGxTAA UNCOVERED NOVEL 0 0 2.407977 KEEP 29 0 0 8 294 CC 0 0 0 4 33 141 0 0 10.662775 30 40 1091 77 0.117647 0.800245 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49244177 49244177 __UNKNOWN__ IGR SNP A A G rs201561089 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:49244177A>G NA NA AC118282.4 (32712 upstream) : AC119751.5 (340864 downstream) NA NA NA gtctctactaaaaatacaaac 0.493 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.49244177A>G NA hg19 0.02 -0.10528 CTAxAAA UNCOVERED NOVEL 0 3 2.405265 KEEP 3 0 0 8 215 AA 0 0 0 4 40 154 0 0 13.991325 8 49 291 26 0.333333 0.139832 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49261263 49261263 __UNKNOWN__ IGR SNP C C A rs4115813 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:49261263C>A NA NA AC118282.4 (49798 upstream) : AC119751.5 (323778 downstream) NA NA NA atagcatgcacctgtaagtcc 0.493 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.49261263C>A NA hg19 0.02 -0.280741 GCAxCTG UNCOVERED NOVEL 0 3 3.009963 KEEP 9 0 0 10 365 CC 0 0 0 3 24 107 0 0 8.460233 17 48 635 56 0.15 0.739671 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49268228 49268228 __UNKNOWN__ IGR SNP G G A rs2931913 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:49268228G>A NA NA AC118282.4 (56763 upstream) : AC119751.5 (316813 downstream) NA NA NA GTggacgggcgcagtgtctca 0.488 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.49268228G>A NA hg19 0.02 -0.280726 GGCxCAG UNCOVERED NOVEL 0 6 3.912785 KEEP 10 0 0 13 458 GG 0 0 0 6 49 225 0 0 18.748525 25 50 874 65 0.193548 0.739671 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49272779 49272779 __UNKNOWN__ IGR SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:49272779C>T NA NA AC118282.4 (61314 upstream) : AC119751.5 (312262 downstream) NA NA NA GCAGCCGCCCCTGGGCAGACC 0.731 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.49272779C>T NA hg19 0.02 -0.368466 CCCxTGG COVERED NOVEL 0 0 2.708374 KEEP 2 0 0 9 304 CC 0.99254 0.892605 0 3 60 99 0 0 6.968074 30 60 1117 74 0.090909 0.899314 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49272803 49272803 __UNKNOWN__ IGR SNP G G A rs80127595 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:49272803G>A NA NA AC118282.4 (61338 upstream) : AC119751.5 (312238 downstream) NA NA NA TGGCTTGGTCGCAGCCACGGC 0.746 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.49272803G>A NA hg19 0.02 -0.438626 GTCxCAG COVERED NOVEL 0 0 2.707081 KEEP 3 0 0 9 275 GG 0.99254 0.952699 0 5 60 178 0 0 13.760752 33 60 1153 84 0.131579 0.959859 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49272844 49272844 __UNKNOWN__ IGR SNP C C A rs78873882 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:49272844C>A NA NA AC118282.4 (61379 upstream) : AC119751.5 (312197 downstream) NA NA NA CGAGGCTGGGCGCGCCAGCCA 0.731 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.49272844C>A NA hg19 0.02 2.17494 GGGxGCG COVERED NOVEL 0 0 2.672845 KEEP 2 0 0 9 277 CC 0.99254 0.978797 0 4 47 145 0 0 10.690743 38 60 1187 83 0.095238 0.986153 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49272968 49272968 __UNKNOWN__ IGR SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:49272968C>T NA NA AC118282.4 (61503 upstream) : AC119751.5 (312073 downstream) NA NA NA CCTGCCCCGGCCCGGCTCCTC 0.726 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.49272968C>T NA hg19 0.02 -0.403544 CGGxCCG COVERED NOVEL 0 0 2.70872 KEEP 11 0 0 9 310 CC 0.99254 0.927521 0 3 53 99 0 0 7.05259 28 60 1010 86 0.096774 0.934492 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49273139 49273139 __UNKNOWN__ IGR SNP T T C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:49273139T>C NA NA AC118282.4 (61674 upstream) : AC119751.5 (311902 downstream) NA NA NA GTGGGGAGTGTGGGCGAGCTC 0.692 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.49273139T>C NA hg19 0.02 1.816038 GTGxGGG COVERED NOVEL 0 1 3.307553 KEEP 3 0 0 11 329 TT 0.993072 0.970098 0 5 60 135 0 0 9.44494 35 60 1249 88 0.125 0.976865 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49293864 49293864 __UNKNOWN__ IGR SNP A A C rs7375644 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:49293864A>C NA NA AC118282.4 (82399 upstream) : AC119751.5 (291177 downstream) NA NA NA agagtagctgaaagagacaca 0.522 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.49293864A>C NA hg19 0.02 2.329367 CTGxAAG COVERED NOVEL 0 1 4.813068 KEEP 18 0 0 16 478 AA 0.994391 0.992864 0 7 21 267 0 0 20.29885 60 42 2168 139 0.104478 0.998465 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49294461 49294461 __UNKNOWN__ IGR SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:49294461G>A NA NA AC118282.4 (82996 upstream) : AC119751.5 (290580 downstream) NA NA NA acagacgggagagtccctgag 0.557 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.49294461G>A NA hg19 0.02 -0.315837 GGAxAGT UNCOVERED NOVEL 0 6 3.009822 KEEP 38 0 0 10 355 GG 0 0 0 3 39 108 0 0 8.043245 26 46 1005 109 0.103448 0.818465 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49323459 49323459 __UNKNOWN__ IGR SNP A A G rs369314592 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:49323459A>G NA NA AC118282.4 (111994 upstream) : AC119751.5 (261582 downstream) NA NA NA acacacagaaacacacacacg 0.507 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.49323459A>G NA hg19 0.02 4.986917 GAAxCAC COVERED NOVEL 0 28 6.691574 KEEP 17 2 74 48 1502 AA 1 0.999999 0 6 60 197 2 1 13.424544 71 60 2505 234 0.077922 0.999999 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49490466 49490466 __UNKNOWN__ IGR SNP G G A rs200980640 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:49490466G>A NA NA AC118282.4 (279001 upstream) : AC119751.5 (94575 downstream) NA NA NA TAATTTTTTTGACATGGAACT 0.308 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.49490466G>A NA hg19 0.02 -0.236861 TTTxACA UNCOVERED NOVEL 0 0 3.000337 KEEP 17 0 0 10 339 GG 0 0 0 3 25 101 0 0 7.494536 23 50 846 65 0.115385 0.612407 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49515605 49515605 __UNKNOWN__ IGR SNP G G T rs10155480 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:49515605G>T NA NA AC118282.4 (304140 upstream) : AC119751.5 (69436 downstream) NA NA NA ctctcggggggtctcctgtgt 0.557 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.49515605G>T NA hg19 0.02 4.573659 GGGxTCT UNCOVERED NOVEL 0 2 3.009662 KEEP 18 0 0 10 360 GG 0 0 0 16 44 543 1 0 43.498677 76 46 2777 178 0.173913 0.999981 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49515611 49515611 __UNKNOWN__ IGR SNP T T C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:49515611T>C NA NA AC118282.4 (304146 upstream) : AC119751.5 (69430 downstream) NA NA NA gggggtctcctgtgtctccca 0.562 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.49515611T>C NA hg19 0.02 5.162192 TCCxGTG UNCOVERED NOVEL 0 2 2.708405 KEEP 18 0 0 9 287 TT 0 0 0 6 40 226 0 0 15.83299 86 46 3233 169 0.065217 0.999981 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49515816 49515816 __UNKNOWN__ IGR SNP A A G rs9715545 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:49515816A>G NA NA AC118282.4 (304351 upstream) : AC119751.5 (69225 downstream) NA NA NA agccccatgcacccaggagtc 0.612 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.49515816A>G NA hg19 0.02 7.653057 TGCxCCC COVERED NOVEL 0 3 2.241189 KEEP 26 1 36 20 602 AA 0.999859 0.999859 0 29 45 1024 0 0 84.257159 121 46 4342 293 0.193333 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49515854 49515854 __UNKNOWN__ IGR SNP A A T rs2090987 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:49515854A>T NA NA AC118282.4 (304389 upstream) : AC119751.5 (69187 downstream) NA NA NA TCTCGGGAGAATATGAGCGGT 0.622 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.49515854A>T NA hg19 0.02 6.83009 AGAxTAT COVERED NOVEL 0 3 2.23844 KEEP 27 1 30 18 534 AA 0.997832 0.997832 0 25 44 905 0 0 74.613209 107 46 3831 253 0.189394 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49539201 49539201 __UNKNOWN__ IGR SNP T T G rs4452401 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:49539201T>G NA NA AC118282.4 (327736 upstream) : AC119751.5 (45840 downstream) NA NA NA gcaatctgcctacctcagcct 0.448 NA N||| 1 0.000199681 0.0008 0.0 5008 , , NA 59254 0.0 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.49539201T>G NA hg19 0.02 -0.192977 GCCxACC UNCOVERED NOVEL 0 7 5.114241 KEEP 23 0 0 17 524 TT 0 0 0 3 49 86 0 0 6.364123 17 50 634 64 0.15 0.457757 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49539235 49539235 __UNKNOWN__ IGR SNP A A T rs377574547 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:49539235A>T NA NA AC118282.4 (327770 upstream) : AC119751.5 (45806 downstream) NA NA NA aattacaggcatgagccactc 0.408 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.49539235A>T NA hg19 0.02 -0.219334 GGCxTGA COVERED NOVEL 0 5 4.212771 KEEP 14 0 0 14 439 AG 0.99257 0.54878 0 3 27 107 0 0 8.264101 20 50 753 55 0.130435 0.552887 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49559846 49559846 __UNKNOWN__ IGR SNP G G A rs369972903 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:49559846G>A NA NA AC118282.4 (348381 upstream) : AC119751.5 (25195 downstream) NA NA NA gtttgtccatgctaatgttat 0.333 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.49559846G>A NA hg19 0.02 1.898191 CATxCTA UNCOVERED NOVEL 0 2 2.407934 KEEP 15 0 0 8 288 GG 0 0 0 14 40 499 0 0 41.085159 59 49 2245 117 0.191781 0.999835 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 49622774 49622774 __UNKNOWN__ IGR SNP C C A rs535094291 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:49622774C>A NA NA AC119751.4 (21248 upstream) : None (None downstream) NA NA NA tgcagtaaaccgagatcgcat 0.488 NA C||| 66 0.0131789 0.0499 0.0 5008 , , NA 19632 0.0 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.49622774C>A NA hg19 0.02 -0.105279 AACxGAG UNCOVERED NOVEL 0 3 2.40751 KEEP 8 0 0 8 270 CC 0 0 0 4 27 149 0 0 13.885629 6 49 220 35 0.4 0.139832 SCFD2 152579 __UNKNOWN__ __UNKNOWN__ 4 53739856 53739856 __UNKNOWN__ 3'UTR SNP C C G rs1047959|rs397839535 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:53739856C>G ENST00000401642.3 - 0 2468 NM_152540.3 NP_689753.2 Q8WU76 SCFD2_HUMAN sec1 family domain containing 2 NA NA protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904) breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134) AGATCACAAACAGAGGGTTAA 0.338 NA C||| 1325 0.264577 0.2995 0.1787 5008 , , NA 19112 0.2817 NA 0.2584 False NA ,,, NA NA NA 2504 0.2669 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY299407 CCDS33984.1 4q12 2004-01-15 ENSG00000184178 ENSG00000184178 152579 30676 protein-coding gene gene with protein product NA 12477932 Standard NM_152540 NM_152540 NA Approved STXBP1L1, FLJ39514 uc003gzu.3 Q8WU76 OTTHUMG00000160588 ENST00000401642.3:c.*280G>C chr4.hg19:g.53739856C>G NA Q8N5F3|Q8N8H0|Q96ED3 hg19 CCDS33984.1 0.02 6.519207 AAAxAGA COVERED NOVEL SCFD2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000361311.3 0 16.854444 KEEP 0 0 0 56 2004 CC 1 1 0 - 6 60 224 0 0 13.903338 170 60 6588 317 ENST00000401642.3 0.034091 1 FIP1L1 81608 __UNKNOWN__ __UNKNOWN__ 4 54257865 54257865 __UNKNOWN__ Intron SNP A A G rs62325162 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:54257865A>G ENST00000507166.1 + 9 705 FIP1L1_ENST00000306932.6_Intron|FIP1L1_ENST00000337488.6_Intron|FIP1L1_ENST00000358575.5_Intron|FIP1L1_ENST00000507922.1_Intron Q6UN15 FIP1_HUMAN factor interacting with PAPOLA and CPSF1 NA NA mRNA processing (GO:0006397) mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleus (GO:0005634) poly(A) RNA binding (GO:0044822) large_intestine(3)|liver(1)|ovary(1)|skin(1) 6 GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134) CTATTATACTAACAAATGCCG 0.333 NA T PDGFRA idiopathic hypereosinophilic syndrome A||| 397 0.0792732 0.0053 0.1023 5008 , , NA 20386 0.1329 NA 0.1402 False NA ,,, NA NA NA 2504 0.045 NA NA NA Dom yes 4 4q12 81608 FIP1 like 1 (S. cerevisiae) L 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF161429 CCDS3491.1, CCDS47055.1, CCDS47056.1 4q12 2013-06-18 2013-06-18 ENSG00000145216 ENSG00000145216 81608 19124 protein-coding gene gene with protein product 607686 FIP1 like 1 (S. cerevisiae), FIP1L1 cleavage and polyadenylation specific factor subunit NA 11230166, 14749727 Standard NM_030917 NM_030917 NA Approved DKFZp586K0717, FIP1 uc003hae.3 Q6UN15 OTTHUMG00000128701 ENST00000507166.1:c.705+200A>G chr4.hg19:g.54257865A>G NA B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077 hg19 0.02 1.628501 ACTxACA COVERED NOVEL FIP1L1-005 NOVEL basic|appris_principal protein_coding NA protein_coding OTTHUMT00000361317.2 0 3.309045 KEEP 0 0 0 11 316 AA 0.993072 0.993021 0 + 4 60 144 0 0 9.053886 94 60 3341 109 ENST00000507166.1 0.040816 0.999948 KDR 3791 __UNKNOWN__ __UNKNOWN__ 4 55961159 55961159 __UNKNOWN__ Intron SNP T T C rs2219471 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:55961159T>C ENST00000263923.4 - 21 3113 NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) NA NA angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032) cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443) ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021) NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268) ACTCCTTGAATACAAAATGAG 0.373 NA Mis NSCLC, angiosarcoma TSP Lung(20;0.16) T||| 1103 0.220248 0.1354 0.147 5008 , , NA 20997 0.4593 NA 0.2396 False NA ,,, NA NA NA 2504 0.1207 NA NA NA Dom yes 4 4q11-q12 3791 vascular endothelial growth factor receptor 2 E 0 T 626,3780 270.7+/-269.8 45,536,1622 34 33 33 -5.7 0 4 dbSNP_96 33 2070,6530 357.1+/-330.6 254,1562,2484 no intron KDR NM_002253.2 299,2098,4106 CC,CT,TT 24.0698,14.2079,20.7289 55961159 2696,10310 2203 4300 6503 SO:0001627 intron_variant AF035121 CCDS3497.1 4q11-q12 2013-01-29 ENSG00000128052 ENSG00000128052 3791 2.7.10.1 CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 6307 protein-coding gene gene with protein product 191306 NA 1417831 Standard NM_002253 NA Approved FLK1, VEGFR, VEGFR2, CD309 uc003has.3 P35968 OTTHUMG00000128734 ENST00000263923.4:c.2818-37A>G chr4.hg19:g.55961159T>C NA A2RRS0|B5A925|C5IFA0|O60723|Q14178 hg19 CCDS3497.1 0.02 6.440568 GAAxACA COVERED NOVEL KDR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250645.1 0 9.930018 KEEP 0 0 0 33 1039 TT 0.999998 0.999998 0 - 7 60 241 0 0 14.674847 178 60 6363 264 ENST00000263923.4 0.037838 1 CEP135 9662 __UNKNOWN__ __UNKNOWN__ 4 56826233 56826233 __UNKNOWN__ Intron SNP T T C rs2593067 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:56826233T>C ENST00000257287.4 + 6 823 CEP135_ENST00000422247.2_3'UTR NM_025009.4 NP_079285.2 Q66GS9 CP135_HUMAN centrosomal protein 135kDa NA NA centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278) centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829) protein C-terminus binding (GO:0008022) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 50 Glioma(25;0.08)|all_neural(26;0.101) CTCGATTCTCTTCACTATTCA 0.378 NA T||| 401 0.0800719 0.1377 0.0951 5008 , , NA 17689 0.0724 NA 0.0388 False NA ,,, NA NA NA 2504 0.0419 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB014535 CCDS33986.1 4q12 2014-02-20 2005-12-02 2005-12-02 ENSG00000174799 ENSG00000174799 9662 29086 protein-coding gene gene with protein product 611423 KIAA0635, centrosomal protein 4 KIAA0635, CEP4 NA 9734811, 14654843 Standard NM_025009 NM_025009 NA Approved FLJ13621 uc003hbi.4 Q66GS9 OTTHUMG00000160748 ENST00000257287.4:c.699+301T>C chr4.hg19:g.56826233T>C NA B2RMY0|O75130|Q58F25|Q9H8H7 hg19 CCDS33986.1 0.02 6.340486 CTCxTCA COVERED NOVEL CEP135-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000362092.2 2 7.221622 KEEP 0 0 0 24 760 TT 0.999909 0.999909 0 + 8 60 291 0 0 18.612164 177 60 6455 226 ENST00000257287.4 0.043243 1 KIAA1211 57482 __UNKNOWN__ __UNKNOWN__ 4 57167507 57167507 __UNKNOWN__ Intron SNP C C G rs58767323 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:57167507C>G ENST00000504228.1 + 2 225 KIAA1211_ENST00000264229.6_Intron|KIAA1211_ENST00000541073.1_Intron Q6ZU35 K1211_HUMAN KIAA1211 NA NA endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1) 65 Glioma(25;0.08)|all_neural(26;0.101) GCTTAGTAAGCAGCCTAAGAG 0.403 NA C||| 1442 0.287939 0.1256 0.3156 5008 , , NA 19671 0.6151 NA 0.1899 False NA ,,, NA NA NA 2504 0.2515 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB033037 CCDS43230.1 4q12 2012-08-03 ENSG00000109265 ENSG00000109265 57482 29219 protein-coding gene gene with protein product NA 10574462, 11230166 Standard NM_020722 NM_020722 NA Approved uc003hbk.2 Q6ZU35 OTTHUMG00000160749 ENST00000504228.1:c.120+2992C>G chr4.hg19:g.57167507C>G NA Q9NTE2|Q9NTP8|Q9ULK9 hg19 CCDS43230.1 0.02 14.201823 AAGxAGC COVERED NOVEL KIAA1211-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000362097.2 1 16.554457 KEEP 0 0 0 55 1991 CC 1 1 0 + 18 60 663 0 0 44.796568 304 60 11673 473 ENST00000504228.1 0.055901 1 KIAA1211 57482 __UNKNOWN__ __UNKNOWN__ 4 57194441 57194441 __UNKNOWN__ 3'UTR SNP G G C rs41498446 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:57194441G>C ENST00000504228.1 + 0 4278 Q6ZU35 K1211_HUMAN KIAA1211 NA NA endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1) 65 Glioma(25;0.08)|all_neural(26;0.101) ATCATATCTAGCTAAAAGCAA 0.378 NA G||| 518 0.103435 0.0439 0.0533 5008 , , NA 21165 0.2381 NA 0.0855 False NA ,,, NA NA NA 2504 0.0992 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB033037 CCDS43230.1 4q12 2012-08-03 ENSG00000109265 ENSG00000109265 57482 29219 protein-coding gene gene with protein product NA 10574462, 11230166 Standard NM_020722 NM_020722 NA Approved uc003hbk.2 Q6ZU35 OTTHUMG00000160749 ENST00000504228.1:c.*471G>C chr4.hg19:g.57194441G>C NA Q9NTE2|Q9NTP8|Q9ULK9 hg19 CCDS43230.1 0.02 15.183625 CTAxCTA COVERED NOVEL KIAA1211-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000362097.2 0 11.136171 KEEP 0 0 0 37 1327 GG 1 1 0 + 12 60 440 0 0 26.621023 367 60 13891 477 ENST00000504228.1 0.031662 1 AASDH 132949 __UNKNOWN__ __UNKNOWN__ 4 57204777 57204777 __UNKNOWN__ Missense_Mutation SNP A A C rs8340 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:57204777A>C ENST00000205214.6 - 15 3268 c.3088T>G c.(3088-3090)Tac>Gac p.Y1030D AASDH_ENST00000602986.1_3'UTR|AASDH_ENST00000434343.2_Missense_Mutation_p.Y545D|AASDH_ENST00000451613.1_3'UTR|AASDH_ENST00000513376.1_Missense_Mutation_p.Y930D NM_181806.2 NP_861522.2 Q4L235 ACSF4_HUMAN aminoadipate-semialdehyde dehydrogenase 1030 NA Y -> D (in dbSNP:rs8340). {ECO:0000269|PubMed:15865210}. fatty acid metabolic process (GO:0006631) acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524) p.Y1030D(1) endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 40 Glioma(25;0.08)|all_neural(26;0.101) all_hematologic(202;0.0017) CTGCCATTGTAGTTATGGAAA 0.413 NA A||| 1130 0.225639 0.2231 0.379 5008 , , NA 18086 0.2153 NA 0.1302 False NA ,,, NA NA NA 2504 0.229 NA NA NA NA 1 Substitution - Missense(1) stomach(1) A ASP/TYR 950,3456 360.6+/-315.3 103,744,1356 93 89 91 3088 2.3 0 4 dbSNP_52 91 1096,7504 228.2+/-263.3 69,958,3273 yes missense AASDH NM_181806.2 160 172,1702,4629 CC,CA,AA 12.7442,21.5615,15.7312 benign 1030/1099 57204777 2046,10960 2203 4300 6503 SO:0001583 missense AF516672 CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1 4q12 2010-12-14 ENSG00000157426 ENSG00000157426 132949 1.2.1.31 Acyl-CoA synthetase family 23993 protein-coding gene gene with protein product acyl-CoA synthetase family member 4 614365 NA 15865210, 12712191, 17762044 Standard NM_181806 XM_005265721 NA Approved NRPS998, LYS2, ACSF4 uc003hbn.3 Q4L235 OTTHUMG00000128841 ENST00000205214.6:c.3088T>G chr4.hg19:g.57204777A>C ENSP00000205214:p.Tyr1030Asp NA A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064 hg19 CCDS3504.1 0.02 32.028404 TGTxGTT COVERED 434 0.1987179487179487 100 0.2032520325203252 118 0.3259668508287293 117 0.20454545454545456 99 0.13060686015831136 A 3.749 -0.051936 0.07362 0.215615 0.127442 ENSG00000157426 ENST00000205214;ENST00000513376;ENST00000434343 T;T;T 0.29142 1.58;1.58;1.58 5.9 2.31 0.28768 Quinonprotein alcohol dehydrogenase-like (2); 0.892392 0.10130 N 0.712160 T 0.00012 0.0000 N 0.01352 -0.895 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.46345 -0.9198 9 0.27785 T 0.31 4.1894 6.8594 0.24058 0.2768:0.1237:0.5996:0.0 rs8340;rs3193307;rs3733325;rs60987677;rs8340 1030 Q4L235 ACSF4_HUMAN D 1030;930;545 ENSP00000205214:Y1030D;ENSP00000423760:Y930D;ENSP00000392158:Y545D ENSP00000205214:Y1030D Y - 1 0 AASDH 56899534 0.098000 0.21812 0.000000 0.03702 0.103000 0.19146 1.387000 0.34430 0.125000 0.18397 -0.248000 0.11899 TAC NOVEL AASDH-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250780.1 1 17.754488 KEEP 0 0 0 59 1881 AA 1 1 0 - 21 60 761 0 0 44.133076 764 60 27928 969 ENST00000205214.6 0.026752 1 AASDH 132949 __UNKNOWN__ __UNKNOWN__ 4 57211352 57211352 __UNKNOWN__ Missense_Mutation SNP T T C rs12498340 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:57211352T>C ENST00000205214.6 - 12 2773 c.2593A>G c.(2593-2595)Acc>Gcc p.T865A AASDH_ENST00000602986.1_Intron|AASDH_ENST00000434343.2_Missense_Mutation_p.T380A|AASDH_ENST00000451613.1_Intron|AASDH_ENST00000513376.1_Missense_Mutation_p.T765A NM_181806.2 NP_861522.2 Q4L235 ACSF4_HUMAN aminoadipate-semialdehyde dehydrogenase 865 NA T -> A (in dbSNP:rs12498340). fatty acid metabolic process (GO:0006631) acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524) endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 40 Glioma(25;0.08)|all_neural(26;0.101) all_hematologic(202;0.0017) AGTCCTGTGGTTGGATCCATG 0.393 NA T||| 1101 0.219848 0.1974 0.3775 5008 , , NA 18367 0.2173 NA 0.1302 False NA ,,, NA NA NA 2504 0.2331 NA NA NA NA 0 T ALA/THR 842,3564 332.5+/-302.5 80,682,1441 201 186 191 2593 3.4 1 4 dbSNP_120 191 1096,7504 228.3+/-263.4 70,956,3274 yes missense AASDH NM_181806.2 58 150,1638,4715 CC,CT,TT 12.7442,19.1103,14.9008 benign 865/1099 57211352 1938,11068 2203 4300 6503 SO:0001583 missense AF516672 CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1 4q12 2010-12-14 ENSG00000157426 ENSG00000157426 132949 1.2.1.31 Acyl-CoA synthetase family 23993 protein-coding gene gene with protein product acyl-CoA synthetase family member 4 614365 NA 15865210, 12712191, 17762044 Standard NM_181806 XM_005265721 NA Approved NRPS998, LYS2, ACSF4 uc003hbn.3 Q4L235 OTTHUMG00000128841 ENST00000205214.6:c.2593A>G chr4.hg19:g.57211352T>C ENSP00000205214:p.Thr865Ala NA A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064 hg19 CCDS3504.1 0.02 9.341371 TGGxTGG COVERED 424 0.19413919413919414 89 0.18089430894308944 117 0.32320441988950277 119 0.20804195804195805 99 0.13060686015831136 T 13.89 2.371977 0.42003 0.191103 0.127442 ENSG00000157426 ENST00000205214;ENST00000513376;ENST00000434343 T;T;T 0.60299 1.01;0.2;1.01 6.03 3.43 0.39272 Quinonprotein alcohol dehydrogenase-like (2); 0.846265 0.11368 N 0.571223 T 0.00012 0.0000 N 0.17631 0.505 0.20975 P 0.999810126 B 0.28178 0.202 B 0.33846 0.171 T 0.30001 -0.9993 9 0.40728 T 0.16 -1.2383 5.8582 0.18732 0.4903:0.0:0.1117:0.398 rs12498340;rs52797375;rs57654214;rs12498340 865 Q4L235 ACSF4_HUMAN A 865;765;380 ENSP00000205214:T865A;ENSP00000423760:T765A;ENSP00000392158:T380A ENSP00000205214:T865A T - 1 0 AASDH 56906109 0.029000 0.19370 0.987000 0.45799 0.967000 0.64934 0.122000 0.15687 1.052000 0.40392 0.533000 0.62120 ACC NOVEL AASDH-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250780.1 1 17.750848 KEEP 0 0 0 59 1873 TT 1 1 0 - 8 60 308 0 0 19.555541 221 60 8055 370 ENST00000205214.6 0.034934 1 SRP72 6731 __UNKNOWN__ __UNKNOWN__ 4 57340592 57340592 __UNKNOWN__ Intron SNP C C T rs11610 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:57340592C>T ENST00000342756.5 + 5 1331 SRP72_ENST00000504757.1_Silent_p.N215N|SRP72_ENST00000510663.1_Intron NM_006947.3 NP_008878.3 O76094 SRP72_HUMAN signal recognition particle 72kDa NA NA cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412) cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786) 7S RNA binding (GO:0008312)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047) breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2) 22 Glioma(25;0.08)|all_neural(26;0.101) GTAAATATAACGTGCATATAA 0.363 NA T||| 2016 0.402556 0.3979 0.4885 5008 , , NA 19914 0.4762 NA 0.3121 False NA ,,, NA NA NA 2504 0.365 NA NA NA NA 0 T 1627,2779 652.6+/-399.4 311,1005,887 32 34 33 -0.1 0 4 dbSNP_52 33 2319,6281 698.9+/-405.0 312,1695,2293 no intron SRP72 NM_006947.3 623,2700,3180 TT,TC,CC 26.9651,36.9269,30.3398 57340592 3946,9060 2203 4300 6503 SO:0001627 intron_variant AF069765 CCDS3506.1, CCDS58898.1 4q11 2013-01-10 2002-08-29 ENSG00000174780 ENSG00000174780 6731 Tetratricopeptide (TTC) repeat domain containing 11303 protein-coding gene gene with protein product 602122 signal recognition particle 72kD NA 9224693, 9857079 Standard NM_006947 NA Approved uc003hbv.3 O76094 OTTHUMG00000128843 ENST00000342756.5:c.610+35C>T chr4.hg19:g.57340592C>T NA G5E9Z8|Q7Z3C0 hg19 CCDS3506.1 0.02 13.027836 TAAxGTG COVERED NOVEL SRP72-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250782.7 0 9.06143 KEEP 0 1 31 41 1349 CC 1 1 0 + 13 60 481 0 0 30.921132 295 60 9759 400 ENST00000342756.5 0.042208 1 SRP72 6731 __UNKNOWN__ __UNKNOWN__ 4 57356972 57356972 __UNKNOWN__ Intron SNP C C T rs17086883 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:57356972C>T ENST00000342756.5 + 15 2223 SRP72_ENST00000510663.1_Intron NM_006947.3 NP_008878.3 O76094 SRP72_HUMAN signal recognition particle 72kDa NA NA cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412) cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786) 7S RNA binding (GO:0008312)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047) breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2) 22 Glioma(25;0.08)|all_neural(26;0.101) atcagtgtgactgaaaaatgc 0.368 NA T||| 2001 0.399561 0.3865 0.4841 5008 , , NA 18682 0.4762 NA 0.3121 False NA ,,, NA NA NA 2504 0.3681 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF069765 CCDS3506.1, CCDS58898.1 4q11 2013-01-10 2002-08-29 ENSG00000174780 ENSG00000174780 6731 Tetratricopeptide (TTC) repeat domain containing 11303 protein-coding gene gene with protein product 602122 signal recognition particle 72kD NA 9224693, 9857079 Standard NM_006947 NA Approved uc003hbv.3 O76094 OTTHUMG00000128843 ENST00000342756.5:c.1502+161C>T chr4.hg19:g.57356972C>T NA G5E9Z8|Q7Z3C0 hg19 CCDS3506.1 0.02 4.290281 TGAxTGA COVERED NOVEL SRP72-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250782.7 0 3.912411 KEEP 0 0 0 13 447 CC 0.994391 0.994359 0 + 7 60 254 0 0 17.696658 94 60 3532 116 ENST00000342756.5 0.069307 0.999968 SRP72 6731 __UNKNOWN__ __UNKNOWN__ 4 57367805 57367805 __UNKNOWN__ Intron SNP C C T rs17086912 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:57367805C>T ENST00000342756.5 + 19 2559 SRP72_ENST00000510663.1_Intron NM_006947.3 NP_008878.3 O76094 SRP72_HUMAN signal recognition particle 72kDa NA NA cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412) cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786) 7S RNA binding (GO:0008312)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047) breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2) 22 Glioma(25;0.08)|all_neural(26;0.101) TATACTCTTCCTTCGTTGAAT 0.418 NA C||| 88 0.0175719 0.0 0.0 5008 , , NA 16667 0.0873 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 C 2,4404 0,2,2201 29 28 29 -0.7 0 4 dbSNP_123 29 0,8600 0,0,4300 no intron SRP72 NM_006947.3 0,2,6501 TT,TC,CC 0.0,0.0454,0.0154 57367805 2,13004 2203 4300 6503 SO:0001627 intron_variant AF069765 CCDS3506.1, CCDS58898.1 4q11 2013-01-10 2002-08-29 ENSG00000174780 ENSG00000174780 6731 Tetratricopeptide (TTC) repeat domain containing 11303 protein-coding gene gene with protein product 602122 signal recognition particle 72kD NA 9224693, 9857079 Standard NM_006947 NA Approved uc003hbv.3 O76094 OTTHUMG00000128843 ENST00000342756.5:c.1839-45C>T chr4.hg19:g.57367805C>T NA G5E9Z8|Q7Z3C0 hg19 CCDS3506.1 0.02 6.947371 TTCxTTC COVERED NOVEL SRP72-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250782.7 0 9.62956 KEEP 0 0 0 32 1096 CC 0.999997 0.999997 0 + 8 60 299 0 0 20.15785 142 60 5135 210 ENST00000342756.5 0.053333 1 SRP72 6731 __UNKNOWN__ __UNKNOWN__ 4 57368469 57368469 __UNKNOWN__ 3'UTR SNP A A G rs7762 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:57368469A>G ENST00000342756.5 + 0 3179 SRP72_ENST00000510663.1_3'UTR NM_006947.3 NP_008878.3 O76094 SRP72_HUMAN signal recognition particle 72kDa NA NA cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412) cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786) 7S RNA binding (GO:0008312)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047) breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2) 22 Glioma(25;0.08)|all_neural(26;0.101) GAGCATTCCTAAATATCTGCT 0.348 NA A||| 583 0.116414 0.0598 0.0576 5008 , , NA 13113 0.251 NA 0.0954 False NA ,,, NA NA NA 2504 0.1176 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF069765 CCDS3506.1, CCDS58898.1 4q11 2013-01-10 2002-08-29 ENSG00000174780 ENSG00000174780 6731 Tetratricopeptide (TTC) repeat domain containing 11303 protein-coding gene gene with protein product 602122 signal recognition particle 72kD NA 9224693, 9857079 Standard NM_006947 NA Approved uc003hbv.3 O76094 OTTHUMG00000128843 ENST00000342756.5:c.*442A>G chr4.hg19:g.57368469A>G NA G5E9Z8|Q7Z3C0 hg19 CCDS3506.1 0.02 17.962752 CCTxAAT COVERED NOVEL SRP72-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250782.7 3 18.9535 KEEP 0 0 0 63 1934 AA 1 1 0 + 12 60 458 0 0 27.519392 437 60 15821 605 ENST00000342756.5 0.026726 1 THEGL 100506564 __UNKNOWN__ __UNKNOWN__ 4 57461136 57461136 __UNKNOWN__ Intron SNP C C A rs11947356 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:57461136C>A ENST00000512175.2 + 7 1043 THEGL_ENST00000510716.1_Intron NM_001256475.1 NP_001243404.1 P0DJG4 THEGL_HUMAN theg spermatid protein-like NA NA NA GGCCCATTGGCGTAAGAAATA 0.547 NA A||| 563 0.11242 0.3464 0.0216 5008 , , NA 19866 0.0089 NA 0.0109 False NA ,,, NA NA NA 2504 0.0716 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant DB450279 CCDS58899.1 4q12 2013-04-04 2012-02-24 2012-02-24 ENSG00000249693 ENSG00000249693 100506564 43771 protein-coding gene gene with protein product NA Standard NM_001256475 NM_001256475 NA Approved uc031seh.1 P0DJG4 OTTHUMG00000160770 ENST00000512175.2:c.976-1530C>A chr4.hg19:g.57461136C>A NA hg19 CCDS58899.1 0.02 2.250462 TGGxGTA COVERED NOVEL THEGL-001 KNOWN not_organism_supported|basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000362201.2 0 3.009909 KEEP 0 0 0 10 359 CC 0.992708 0.99227 0 + 8 60 286 0 0 20.953251 76 60 2773 122 ENST00000512175.2 0.095238 0.999559 THEGL 100506564 __UNKNOWN__ __UNKNOWN__ 4 57462808 57462808 __UNKNOWN__ Intron SNP G G A rs11939450 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:57462808G>A ENST00000512175.2 + 7 1175 NM_001256475.1 NP_001243404.1 P0DJG4 THEGL_HUMAN theg spermatid protein-like NA NA NA GTAAGCCATCGCTACCTTGGT 0.468 NA A||| 191 0.038139 0.1271 0.0101 5008 , , NA 20591 0.0089 NA 0.001 False NA ,,, NA NA NA 2504 0.0061 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant DB450279 CCDS58899.1 4q12 2013-04-04 2012-02-24 2012-02-24 ENSG00000249693 ENSG00000249693 100506564 43771 protein-coding gene gene with protein product NA Standard NM_001256475 NM_001256475 NA Approved uc031seh.1 P0DJG4 OTTHUMG00000160770 ENST00000512175.2:c.1107+11G>A chr4.hg19:g.57462808G>A NA hg19 CCDS58899.1 0.02 9.67288 ATCxCTA COVERED NOVEL THEGL-001 KNOWN not_organism_supported|basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000362201.2 1 9.931532 KEEP 0 0 0 33 1151 GG 0.999998 0.999998 0 + 9 60 307 0 0 18.056061 249 60 8842 357 ENST00000512175.2 0.034884 1 HOPX 84525 __UNKNOWN__ __UNKNOWN__ 4 57516896 57516896 __UNKNOWN__ Intron SNP G G A rs4371677 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:57516896G>A ENST00000337881.7 - 3 801 HOPX_ENST00000381260.3_Missense_Mutation_p.P76L|HOPX_ENST00000508121.1_Intron|HOPX_ENST00000317745.7_Intron|HOPX_ENST00000420433.1_Intron|HOPX_ENST00000556614.2_Intron|HOPX_ENST00000381255.3_Intron|HOPX_ENST00000554144.1_Missense_Mutation_p.P94L|HOPX_ENST00000503639.3_Intron|HOPX_ENST00000555760.2_Intron|HOPX_ENST00000553379.2_Intron|HOPX_ENST00000556376.2_Intron NM_139212.3 NP_631958.1 Q9BPY8 HOP_HUMAN HOP homeobox NA NA heart development (GO:0007507)|histone deacetylation (GO:0016575)|lung alveolus development (GO:0048286)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of heart contraction (GO:0008016)|regulation of protein binding (GO:0043393)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829) nucleus (GO:0005634) DNA binding (GO:0003677) p.P94L(1) large_intestine(2)|lung(5)|skin(1) 8 Glioma(25;0.08)|all_neural(26;0.101) AGCCAAGCACGGCAGACTATC 0.458 NA A||| 2435 0.486222 0.6725 0.3617 5008 , , NA 19278 0.4712 NA 0.4791 False NA ,,, NA NA NA 2504 0.3456 NA NA NA NA 1 Substitution - Missense(1) stomach(1) A ,LEU/PRO,,, 894,490 280,334,78 75 69 71 ,281,,, 0.5 0 4 dbSNP_111 71 1438,1744 323,792,476 yes intron,missense,intron,intron,intron HOPX NM_001145459.1,NM_001145460.1,NM_032495.5,NM_139211.4,NM_139212.3 ,98,,, 603,1126,554 AA,AG,GG 45.1917,35.4046,48.9269 ,,,, ,94/113,,, 57516896 2332,2234 692 1591 2283 SO:0001627 intron_variant CCDS3507.1, CCDS47062.1, CCDS54767.1 4q12 2011-06-20 ENSG00000171476 ENSG00000171476 84525 Homeoboxes / PRD class 24961 protein-coding gene gene with protein product homeobox only domain 607275 NA 12297045 Standard NM_032495 NA Approved LAGY, HOP, OB1, NECC1, SMAP31 uc003hbz.2 Q9BPY8 OTTHUMG00000128768 ENST00000337881.7:c.145-1933C>T chr4.hg19:g.57516896G>A NA A8K0Z2|E9PB55|G3V294|Q8N0V6|Q96CI1 hg19 CCDS3507.1 0.02 6.816777 CACxGCA COVERED 1076 0.4926739926739927 340 0.6910569105691057 138 0.3812154696132597 246 0.43006993006993005 352 0.46437994722955145 A 0.011 -1.702512 0.00719 0.645954 0.451917 ENSG00000171476 ENST00000554144;ENST00000381260;ENST00000503864;ENST00000509435 . . . 3.22 0.473 0.16763 . . . . . T 0.00012 0.0000 N 0.00538 -1.39 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.39901 -0.9591 7 0.02654 T 1 . 3.3623 0.07192 0.5528:0.2065:0.2407:0.0 rs4371677;rs52837923;rs59676692;rs4371677 94 G3V294 . L 94;76;76;76 . ENSP00000370659:P94L P - 2 0 HOPX 57211653 0.000000 0.05858 0.001000 0.08648 0.002000 0.02628 -0.278000 0.08490 -0.146000 0.11274 -0.269000 0.10298 CCG NOVEL HOPX-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250689.4 0 4.383371 KEEP 0 2 64 37 1255 GG 1 1 0 - 16 60 583 0 0 41.764677 183 60 6336 282 ENST00000337881.7 0.080402 1 HOPX 84525 __UNKNOWN__ __UNKNOWN__ 4 57522134 57522134 __UNKNOWN__ Silent SNP C C T rs11555052 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:57522134C>T ENST00000337881.7 - 2 689 c.33G>A c.(31-33)gaG>gaA p.E11E HOPX_ENST00000381260.3_Silent_p.E11E|HOPX_ENST00000508121.1_Silent_p.E29E|HOPX_ENST00000317745.7_Silent_p.E11E|HOPX_ENST00000420433.1_Silent_p.E29E|HOPX_ENST00000556614.2_Silent_p.E11E|HOPX_ENST00000381255.3_Silent_p.E11E|HOPX_ENST00000554144.1_Silent_p.E29E|HOPX_ENST00000503639.3_Silent_p.E11E|HOPX_ENST00000555760.2_Silent_p.E11E|HOPX_ENST00000553379.2_Silent_p.E11E|HOPX_ENST00000556376.2_Silent_p.E11E NM_139212.3 NP_631958.1 Q9BPY8 HOP_HUMAN HOP homeobox 11 NA heart development (GO:0007507)|histone deacetylation (GO:0016575)|lung alveolus development (GO:0048286)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of heart contraction (GO:0008016)|regulation of protein binding (GO:0043393)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829) nucleus (GO:0005634) DNA binding (GO:0003677) large_intestine(2)|lung(5)|skin(1) 8 Glioma(25;0.08)|all_neural(26;0.101) CCACCTGGTCCTCTGTGGGGC 0.687 NA C||| 223 0.0445288 0.0159 0.0288 5008 , , NA 11377 0.0575 NA 0.0099 False NA ,,, NA NA NA 2504 0.1166 NA NA NA NA 0 C ,,,, 69,4335 58.7+/-95.3 0,69,2133 73 64 67 33,87,87,33,33 3.8 1 4 dbSNP_120 67 119,8481 59.5+/-121.1 0,119,4181 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous HOPX NM_001145459.1,NM_001145460.1,NM_032495.5,NM_139211.4,NM_139212.3 ,,,, 0,188,6314 TT,TC,CC 1.3837,1.5668,1.4457 ,,,, 11/74,29/113,29/92,11/74,11/74 57522134 188,12816 2202 4300 6502 SO:0001819 synonymous_variant CCDS3507.1, CCDS47062.1, CCDS54767.1 4q12 2011-06-20 ENSG00000171476 ENSG00000171476 84525 Homeoboxes / PRD class 24961 protein-coding gene gene with protein product homeobox only domain 607275 NA 12297045 Standard NM_032495 NA Approved LAGY, HOP, OB1, NECC1, SMAP31 uc003hbz.2 Q9BPY8 OTTHUMG00000128768 ENST00000337881.7:c.33G>A chr4.hg19:g.57522134C>T NA A8K0Z2|E9PB55|G3V294|Q8N0V6|Q96CI1 hg19 CCDS3507.1 0.02 8.953848 GTCxTCT COVERED NOVEL HOPX-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250689.4 0 14.145252 KEEP 0 0 0 47 1651 CC 1 1 0 - 8 60 284 0 0 17.554944 197 60 7410 321 ENST00000337881.7 0.039024 1 HOPX 84525 __UNKNOWN__ __UNKNOWN__ 4 57522689 57522689 __UNKNOWN__ 5'UTR SNP C C T rs4558922 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:57522689C>T ENST00000556614.2 - 0 2 HOPX_ENST00000381260.3_Intron|HOPX_ENST00000337881.7_Intron|HOPX_ENST00000508121.1_Intron|HOPX_ENST00000420433.1_Intron|HOPX_ENST00000554144.1_Intron|HOPX_ENST00000556376.2_Intron NM_139211.4 NP_631957.1 Q9BPY8 HOP_HUMAN HOP homeobox NA NA heart development (GO:0007507)|histone deacetylation (GO:0016575)|lung alveolus development (GO:0048286)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of heart contraction (GO:0008016)|regulation of protein binding (GO:0043393)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829) nucleus (GO:0005634) DNA binding (GO:0003677) large_intestine(2)|lung(5)|skin(1) 8 Glioma(25;0.08)|all_neural(26;0.101) CTTCTGTCTCCGCAGTGGGTT 0.642 NA OREG0016206 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) T||| 2484 0.496006 0.6868 0.366 5008 , , NA 11461 0.4702 NA 0.5 False NA ,,, NA NA NA 2504 0.3528 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant CCDS3507.1, CCDS47062.1, CCDS54767.1 4q12 2011-06-20 ENSG00000171476 ENSG00000171476 84525 Homeoboxes / PRD class 24961 protein-coding gene gene with protein product homeobox only domain 607275 NA 12297045 Standard NM_032495 NA Approved LAGY, HOP, OB1, NECC1, SMAP31 uc003hbz.2 Q9BPY8 OTTHUMG00000128768 ENST00000556614.2:c.-192G>A chr4.hg19:g.57522689C>T 1023 A8K0Z2|E9PB55|G3V294|Q8N0V6|Q96CI1 hg19 CCDS3507.1 0.02 4.165363 CTCxGCA COVERED NOVEL HOPX-015 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000410774.1 3 7.693753 KEEP 0 2 64 48 1632 CC 1 1 0 - 7 60 253 0 0 16.620699 131 60 4488 237 ENST00000556614.2 0.050725 1 HOPX 84525 __UNKNOWN__ __UNKNOWN__ 4 57523869 57523869 __UNKNOWN__ Intron SNP T T C rs7693834 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:57523869T>C ENST00000337881.7 - 2 645 HOPX_ENST00000381260.3_Intron|HOPX_ENST00000508121.1_Intron|HOPX_ENST00000420433.1_Intron|HOPX_ENST00000554144.1_Intron|HOPX_ENST00000556376.2_Intron NM_139212.3 NP_631958.1 Q9BPY8 HOP_HUMAN HOP homeobox NA NA heart development (GO:0007507)|histone deacetylation (GO:0016575)|lung alveolus development (GO:0048286)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of heart contraction (GO:0008016)|regulation of protein binding (GO:0043393)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829) nucleus (GO:0005634) DNA binding (GO:0003677) large_intestine(2)|lung(5)|skin(1) 8 Glioma(25;0.08)|all_neural(26;0.101) GAAACACTTCTTCTTCTGTGT 0.473 NA C||| 2483 0.495807 0.6868 0.366 5008 , , NA 21289 0.4702 NA 0.5 False NA ,,, NA NA NA 2504 0.3517 NA NA NA NA 0 C ,, 894,490 285,324,83 56 48 51 ,, 1.5 0 4 dbSNP_116 51 1480,1702 339,802,450 no intron,intron,intron HOPX NM_001145460.1,NM_032495.5,NM_139212.3 ,, 624,1126,533 CC,CT,TT 46.5116,35.4046,48.007 ,, ,, 57523869 2374,2192 692 1591 2283 SO:0001627 intron_variant CCDS3507.1, CCDS47062.1, CCDS54767.1 4q12 2011-06-20 ENSG00000171476 ENSG00000171476 84525 Homeoboxes / PRD class 24961 protein-coding gene gene with protein product homeobox only domain 607275 NA 12297045 Standard NM_032495 NA Approved LAGY, HOP, OB1, NECC1, SMAP31 uc003hbz.2 Q9BPY8 OTTHUMG00000128768 ENST00000337881.7:c.12-1691A>G chr4.hg19:g.57523869T>C NA A8K0Z2|E9PB55|G3V294|Q8N0V6|Q96CI1 hg19 CCDS3507.1 0.02 6.326827 TTCxTCT COVERED NOVEL HOPX-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250689.4 2 2.312037 KEEP 0 3 104 44 1388 TT 1 1 0 - 17 60 602 0 0 43.13845 181 60 6667 279 ENST00000337881.7 0.085859 1 HOPX 84525 __UNKNOWN__ __UNKNOWN__ 4 57524029 57524029 __UNKNOWN__ Intron SNP C C T rs551622354 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:57524029C>T ENST00000337881.7 - 2 645 HOPX_ENST00000381260.3_Intron|HOPX_ENST00000508121.1_5'UTR|HOPX_ENST00000420433.1_5'UTR|HOPX_ENST00000554144.1_5'UTR|HOPX_ENST00000556376.2_Intron NM_139212.3 NP_631958.1 Q9BPY8 HOP_HUMAN HOP homeobox NA NA heart development (GO:0007507)|histone deacetylation (GO:0016575)|lung alveolus development (GO:0048286)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of heart contraction (GO:0008016)|regulation of protein binding (GO:0043393)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829) nucleus (GO:0005634) DNA binding (GO:0003677) large_intestine(2)|lung(5)|skin(1) 8 Glioma(25;0.08)|all_neural(26;0.101) ACCTGTGCTCCGCTAGACCCT 0.473 NA C||| 2 0.000399361 0.0 0.0 5008 , , NA 20435 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 82 70 74 NA NA 4 NA 57524029 692 1591 2283 SO:0001627 intron_variant CCDS3507.1, CCDS47062.1, CCDS54767.1 4q12 2011-06-20 ENSG00000171476 ENSG00000171476 84525 Homeoboxes / PRD class 24961 protein-coding gene gene with protein product homeobox only domain 607275 NA 12297045 Standard NM_032495 NA Approved LAGY, HOP, OB1, NECC1, SMAP31 uc003hbz.2 Q9BPY8 OTTHUMG00000128768 ENST00000337881.7:c.12-1851G>A chr4.hg19:g.57524029C>T NA A8K0Z2|E9PB55|G3V294|Q8N0V6|Q96CI1 hg19 CCDS3507.1 0.02 15.730473 CTCxGCT COVERED NOVEL HOPX-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250689.4 1 17.72908 KEEP 0 0 0 59 1973 CC 1 1 0 - 11 60 413 0 0 25.151455 352 60 12081 511 ENST00000337881.7 0.030303 1 LPHN3 23284 __UNKNOWN__ __UNKNOWN__ 4 62861941 62861941 __UNKNOWN__ Intron SNP G G C rs17226398 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:62861941G>C ENST00000514591.1 + 19 3361 LPHN3_ENST00000504896.1_Intron|LPHN3_ENST00000512091.2_Intron|LPHN3_ENST00000511324.1_Intron|LPHN3_ENST00000508946.1_Intron|LPHN3_ENST00000506720.1_Intron|LPHN3_ENST00000514996.1_Intron|LPHN3_ENST00000509896.1_Intron|LPHN3_ENST00000506700.1_Intron|LPHN3_ENST00000506746.1_Intron|LPHN3_ENST00000545650.1_Intron|LPHN3_ENST00000507164.1_Intron|LPHN3_ENST00000508693.1_Intron|LPHN3_ENST00000514157.1_Intron|LPHN3_ENST00000507625.1_Intron Q9HAR2 LPHN3_HUMAN latrophilin 3 NA NA G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930) breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 CTCTGTCACAGGTTCACTCTT 0.423 NA C||| 1237 0.247005 0.2254 0.2248 5008 , , NA 18336 0.3393 NA 0.2276 False NA ,,, NA NA NA 2504 0.2168 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB018311 CCDS54768.1 4q13.1 2014-08-08 ENSG00000150471 23284 -, GPCR / Class B : Orphans 20974 protein-coding gene gene with protein product NA 10994649 Standard NM_015236 NA Approved KIAA0768, LEC3 uc010ihh.3 Q9HAR2 ENST00000514591.1:c.3033-68G>C chr4.hg19:g.62861941G>C NA E9PE04|O94867|Q9NWK5 hg19 CCDS54768.1 0.02 21.869689 ACAxGTT COVERED NOVEL LPHN3-003 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000361765.1 2 17.156391 KEEP 0 0 0 57 2083 GG 1 1 0 + 21 60 772 0 0 49.142468 493 60 18925 712 ENST00000514591.1 0.040856 1 LPHN3 23284 __UNKNOWN__ __UNKNOWN__ 4 62861964 62861964 __UNKNOWN__ Intron SNP A A T rs56038622 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:62861964A>T ENST00000514591.1 + 19 3361 LPHN3_ENST00000504896.1_Intron|LPHN3_ENST00000512091.2_Intron|LPHN3_ENST00000511324.1_Intron|LPHN3_ENST00000508946.1_Intron|LPHN3_ENST00000506720.1_Intron|LPHN3_ENST00000514996.1_Intron|LPHN3_ENST00000509896.1_Intron|LPHN3_ENST00000506700.1_Intron|LPHN3_ENST00000506746.1_Intron|LPHN3_ENST00000545650.1_Intron|LPHN3_ENST00000507164.1_Intron|LPHN3_ENST00000508693.1_Intron|LPHN3_ENST00000514157.1_Intron|LPHN3_ENST00000507625.1_Intron Q9HAR2 LPHN3_HUMAN latrophilin 3 NA NA G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930) breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 TGTATGTCCCATACCCAGTCC 0.423 NA A||| 1215 0.242612 0.2088 0.2248 5008 , , NA 18250 0.3393 NA 0.2276 False NA ,,, NA NA NA 2504 0.2168 NA NA NA NA 0 A 848,3102 95,658,1222 134 135 134 -0.4 0.8 4 dbSNP_129 134 1957,6359 241,1475,2442 no intron LPHN3 NM_015236.4 336,2133,3664 TT,TA,AA 23.5329,21.4684,22.8681 62861964 2805,9461 1975 4158 6133 SO:0001627 intron_variant AB018311 CCDS54768.1 4q13.1 2014-08-08 ENSG00000150471 23284 -, GPCR / Class B : Orphans 20974 protein-coding gene gene with protein product NA 10994649 Standard NM_015236 NA Approved KIAA0768, LEC3 uc010ihh.3 Q9HAR2 ENST00000514591.1:c.3033-45A>T chr4.hg19:g.62861964A>T NA E9PE04|O94867|Q9NWK5 hg19 CCDS54768.1 0.02 22.633017 CCCxTAC COVERED NOVEL LPHN3-003 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000361765.1 2 18.054236 KEEP 0 0 0 60 1887 AA 1 1 0 + 18 60 668 0 0 41.471847 500 60 18629 722 ENST00000514591.1 0.034749 1 EPHA5 2044 __UNKNOWN__ __UNKNOWN__ 4 66197823 66197823 __UNKNOWN__ Missense_Mutation SNP T T C rs56312931 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:66197823T>C ENST00000273854.3 - 17 3476 c.2876A>G c.(2875-2877)cAt>cGt p.H959R EPHA5_ENST00000354839.4_Missense_Mutation_p.H937R|EPHA5_ENST00000511294.1_Missense_Mutation_p.H960R|EPHA5_ENST00000432638.2_Missense_Mutation_p.H796R NM_001281765.1|NM_004439.5 NP_001268694.1|NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 959 NA H -> R (in dbSNP:rs56312931). {ECO:0000269|PubMed:17344846}. axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314) dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791) ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005) autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 TAGTGGGCTATGTTCTGCCAA 0.333 NA TSP Lung(17;0.13) T||| 16 0.00319489 0.0 0.0 5008 , , NA 15661 0.0159 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 63 58 60 NA NA 4 NA 66197823 2203 4300 6503 SO:0001583 missense L36644 CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1 4q13.1 2013-02-11 2004-10-28 ENSG00000145242 ENSG00000145242 2044 EPH receptors, Sterile alpha motif (SAM) domain containing, Fibronectin type III domain containing 3389 protein-coding gene gene with protein product 600004 EphA5 NA 9267020, 7528718 Standard NM_004439 NM_004439 NA Approved Hek7, TYRO4, CEK7, EHK1 uc003hcy.3 P54756 OTTHUMG00000129273 ENST00000273854.3:c.2876A>G chr4.hg19:g.66197823T>C ENSP00000273854:p.His959Arg NA Q7Z3F2 hg19 CCDS3513.1 0.02 11.352604 CTAxGTT COVERED 11 0.005036630036630037 0 0.0 0 0.0 11 0.019230769230769232 0 0.0 T 0.863 -0.734683 0.03111 . . ENSG00000145242 ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294 T;T;T;D 0.81821 -0.57;-0.63;-0.52;-1.54 5.38 5.38 0.77491 Sterile alpha motif/pointed domain (1); 0.000000 0.64402 D 0.000008 T 0.39410 0.1077 N 0.02225 -0.63 0.53688 D 0.999972 B;B;B;B 0.23806 0.001;0.0;0.001;0.091 B;B;B;B 0.19148 0.001;0.001;0.002;0.024 T 0.57347 -0.7827 10 0.02654 T 1 . 15.6807 0.77367 0.0:0.0:0.0:1.0 rs56312931 938;960;937;959 B7ZKW7;B7ZKJ3;P54756-2;P54756 .;.;.;EPHA5_HUMAN R 959;796;937;960 ENSP00000273854:H959R;ENSP00000389208:H796R;ENSP00000346899:H937R;ENSP00000427638:H960R ENSP00000273854:H959R H - 2 0 EPHA5 65880418 1.000000 0.71417 0.992000 0.48379 0.555000 0.35460 5.988000 0.70579 2.177000 0.69029 0.402000 0.26972 CAT NOVEL EPHA5-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000251388.2 1 9.328428 KEEP 0 0 0 31 985 TT 0.999997 0.999997 0 - 10 60 342 0 0 19.70487 307 60 11337 422 ENST00000273854.3 0.031546 1 EPHA5 2044 __UNKNOWN__ __UNKNOWN__ 4 66280171 66280171 __UNKNOWN__ Intron SNP C C T rs2305351 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:66280171C>T ENST00000273854.3 - 7 2128 EPHA5_ENST00000354839.4_Intron|EPHA5_ENST00000511294.1_Intron|EPHA5_ENST00000432638.2_Intron NM_001281765.1|NM_004439.5 NP_001268694.1|NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 NA NA axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314) dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791) ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005) p.?(1) autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 CCTTGGGATGCGCATGCATAT 0.353 NA TSP Lung(17;0.13) C||| 906 0.180911 0.0159 0.2997 5008 , , NA 18924 0.2857 NA 0.172 False NA ,,, NA NA NA 2504 0.2209 NA NA NA NA 1 Unknown(1) stomach(1) C , 182,4224 118.0+/-155.7 3,176,2024 137 112 120 , 1.9 0 4 dbSNP_100 120 1289,7311 256.3+/-280.9 99,1091,3110 no intron,intron EPHA5 NM_004439.5,NM_182472.2 , 102,1267,5134 TT,TC,CC 14.9884,4.1307,11.3102 , , 66280171 1471,11535 2203 4300 6503 SO:0001627 intron_variant L36644 CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1 4q13.1 2013-02-11 2004-10-28 ENSG00000145242 ENSG00000145242 2044 EPH receptors, Sterile alpha motif (SAM) domain containing, Fibronectin type III domain containing 3389 protein-coding gene gene with protein product 600004 EphA5 NA 9267020, 7528718 Standard NM_004439 NM_004439 NA Approved Hek7, TYRO4, CEK7, EHK1 uc003hcy.3 P54756 OTTHUMG00000129273 ENST00000273854.3:c.1528-10G>A chr4.hg19:g.66280171C>T NA Q7Z3F2 hg19 CCDS3513.1 0.02 12.390288 ATGxGCA COVERED NOVEL EPHA5-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000251388.2 0 10.833994 KEEP 0 0 0 36 1203 CC 0.999999 0.999999 0 - 10 60 358 0 0 21.530144 291 60 9724 386 ENST00000273854.3 0.033223 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 68266151 68266151 __UNKNOWN__ IGR SNP C C G rs4860251 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:68266151C>G NA NA RNU6-699P (503062 upstream) : RP11-584P21.2 (16871 downstream) NA NA NA acgcacacatcaaaaagtagt 0.348 NA -||| 3020 0.603035 0.4501 0.634 5008 , , NA 184523 0.7867 NA 0.5895 False NA ,,, NA NA NA 2504 0.6125 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.68266151C>G NA hg19 0.02 -0.289271 CATxAAA COVERED NOVEL 0 8 6.922707 KEEP 13 0 0 23 823 CC 0.999366 0.760405 0 6 60 231 0 0 25.96235 0 0 0 103 1 0.760887 UBA6 55236 __UNKNOWN__ __UNKNOWN__ 4 68484199 68484199 __UNKNOWN__ 3'UTR SNP A A G rs35769737 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:68484199A>G ENST00000322244.5 - 0 3734 NM_018227.5 NP_060697.4 A0AVT1 UBA6_HUMAN ubiquitin-like modifier activating enzyme 6 NA NA protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511) cytoplasm (GO:0005737)|cytosol (GO:0005829) ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874) central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2) 44 AATTTAAAATATCCACCCTTC 0.378 NA G||| 929 0.185503 0.1936 0.2277 5008 , , NA 17639 0.1746 NA 0.2575 False NA ,,, NA NA NA 2504 0.0818 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK094164 CCDS3516.1 4q13.2 2008-02-05 2007-11-30 2007-11-30 ENSG00000033178 ENSG00000033178 55236 Ubiquitin-like modifier activating enzymes 25581 protein-coding gene gene with protein product UBA6, ubiquitin-activating enzyme E1 611361 ubiquitin-activating enzyme E1-like 2 UBE1L2 NA 17580310 Standard NM_018227 NM_018227 NA Approved FLJ10808 uc003hdg.4 A0AVT1 OTTHUMG00000129299 ENST00000322244.5:c.*516T>C chr4.hg19:g.68484199A>G NA A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9 hg19 CCDS3516.1 0.02 7.118351 AATxTCC COVERED NOVEL UBA6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251429.2 1 7.82276 KEEP 0 0 0 26 801 AA 0.999957 0.999957 0 - 6 60 228 0 0 14.304686 170 60 6208 235 ENST00000322244.5 0.034091 1 UBA6 55236 __UNKNOWN__ __UNKNOWN__ 4 68562365 68562365 __UNKNOWN__ Silent SNP A A G rs17572160 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:68562365A>G ENST00000322244.5 - 2 191 c.132T>C c.(130-132)taT>taC p.Y44Y UBA6_ENST00000420827.2_Silent_p.Y44Y NM_018227.5 NP_060697.4 A0AVT1 UBA6_HUMAN ubiquitin-like modifier activating enzyme 6 44 NA protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511) cytoplasm (GO:0005737)|cytosol (GO:0005829) ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874) central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2) 44 ATTCTTACCTATACAATGCAT 0.303 NA G||| 925 0.184704 0.1906 0.2277 5008 , , NA 15105 0.1746 NA 0.2575 False NA ,,, NA NA NA 2504 0.0818 NA NA NA NA 0 G 863,3541 743.2+/-411.4 86,691,1425 88 85 86 132 1.1 1 4 dbSNP_123 86 2212,6378 707.8+/-405.6 291,1630,2374 no coding-synonymous UBA6 NM_018227.5 377,2321,3799 GG,GA,AA 25.7509,19.5958,23.6648 44/1053 68562365 3075,9919 2202 4295 6497 SO:0001819 synonymous_variant AK094164 CCDS3516.1 4q13.2 2008-02-05 2007-11-30 2007-11-30 ENSG00000033178 ENSG00000033178 55236 Ubiquitin-like modifier activating enzymes 25581 protein-coding gene gene with protein product UBA6, ubiquitin-activating enzyme E1 611361 ubiquitin-activating enzyme E1-like 2 UBE1L2 NA 17580310 Standard NM_018227 NM_018227 NA Approved FLJ10808 uc003hdg.4 A0AVT1 OTTHUMG00000129299 ENST00000322244.5:c.132T>C chr4.hg19:g.68562365A>G NA A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9 hg19 CCDS3516.1 0.02 4.790384 CCTxTAC COVERED NOVEL UBA6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251429.2 1 18.355539 KEEP 0 0 0 61 1929 AA 1 1 0 - 5 60 196 0 0 12.700632 130 60 4779 272 ENST00000322244.5 0.037037 1 UBA6-AS1 550112 __UNKNOWN__ __UNKNOWN__ 4 68578797 68578797 __UNKNOWN__ RNA SNP C C T rs77509898 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:68578797C>T ENST00000500538.2 + 0 124 UBA6-AS1_ENST00000514109.1_RNA|UBA6-AS1_ENST00000506606.1_RNA|UBA6-AS1_ENST00000498917.2_RNA UBA6 antisense RNA 1 (head to head) NA NA NA GCCCCTGCCACTGCCTGCCCA 0.612 NA C||| 177 0.0353435 0.0023 0.0821 5008 , , NA 18756 0.0982 NA 0.0089 False NA ,,, NA NA NA 2504 0.0092 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA 4q13.2 2014-01-15 ENSG00000248049 ENSG00000248049 550112 Long non-coding RNAs 49083 non-coding RNA RNA, long non-coding NA Standard NR_015439 NA Approved LOC550112 OTTHUMG00000160769 ENST00000500538.2: chr4.hg19:g.68578797C>T NA hg19 0.02 3.985595 CCAxTGC COVERED NOVEL UBA6-AS1-002 KNOWN basic antisense NA antisense OTTHUMT00000362199.2 1 8.72884 KEEP 0 0 0 29 1060 CC 0.999997 0.999992 0 + 5 60 180 0 0 11.497039 108 60 4092 174 ENST00000500538.2 0.044248 0.999995 TMPRSS11D 9407 __UNKNOWN__ __UNKNOWN__ 4 68749618 68749618 __UNKNOWN__ Intron SNP G G A rs55766746 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:68749618G>A ENST00000283916.6 - 1 107 UBA6-AS1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000545541.1_Intron|TMPRSS11D_ENST00000509584.1_Intron NM_004262.2 NP_004253.1 O60235 TM11D_HUMAN transmembrane protease, serine 11D NA NA proteolysis (GO:0006508)|respiratory gaseous exchange (GO:0007585) extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887) peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252) cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 AACTTTTAAAGCTACAAAGAC 0.318 NA G||| 590 0.117812 0.1884 0.0605 5008 , , NA 16841 0.1587 NA 0.0586 False NA ,,, NA NA NA 2504 0.0818 NA NA NA NA 0 G 730,3672 283.1+/-276.9 58,614,1529 80 82 81 -5.2 0 4 dbSNP_129 81 603,7991 154.0+/-208.3 17,569,3711 no intron TMPRSS11D NM_004262.2 75,1183,5240 AA,AG,GG 7.0165,16.5834,10.257 68749618 1333,11663 2201 4297 6498 SO:0001627 intron_variant AB002134 CCDS3518.1 4q13.2 2010-04-13 ENSG00000153802 ENSG00000153802 9407 Serine peptidases / Transmembrane 24059 protein-coding gene gene with protein product airway trypsin like protease 605369 NA 9565616, 9070615 Standard NM_004262 XM_005265710 NA Approved uc003hdq.3 O60235 OTTHUMG00000129300 ENST00000283916.6:c.8+25C>T chr4.hg19:g.68749618G>A NA Q08AF6 hg19 CCDS3518.1 0.02 13.978058 AAAxCTA COVERED NOVEL TMPRSS11D-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251430.3 4 12.039325 KEEP 0 0 0 40 1431 GG 1 1 0 - 12 60 429 0 0 25.833491 345 60 13080 439 ENST00000283916.6 0.033613 1 YTHDC1 91746 __UNKNOWN__ __UNKNOWN__ 4 69178954 69178954 __UNKNOWN__ 3'UTR SNP T T C rs2293594 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:69178954T>C ENST00000344157.4 - 0 3382 NM_001031732.2 NP_001026902.1 Q96MU7 YTDC1_HUMAN YTH domain containing 1 NA NA mRNA splice site selection (GO:0006376) nucleus (GO:0005634) poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 30 GTTCCTAAAATTCCTGAACAA 0.328 NA T||| 1344 0.268371 0.115 0.1787 5008 , , NA 17807 0.5804 NA 0.2584 False NA ,,, NA NA NA 2504 0.228 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK098515 CCDS3522.2, CCDS33992.1 4q13.3 2009-01-14 ENSG00000083896 ENSG00000083896 91746 30626 protein-coding gene gene with protein product NA 12368078, 10564280 Standard NM_133370 XM_005265706 NA Approved YT521, KIAA1966, YT521-B uc003hdx.3 Q96MU7 OTTHUMG00000129306 ENST00000344157.4:c.*863A>G chr4.hg19:g.69178954T>C NA Q4W5Q3|Q7Z622|Q8TF35 hg19 CCDS33992.1 0.02 9.725034 AAAxTCC COVERED NOVEL YTHDC1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000251437.1 4 11.73455 KEEP 0 0 0 39 1230 TT 1 1 0 - 11 60 425 0 0 29.109366 195 60 7147 293 ENST00000344157.4 0.053398 1 UGT2B15 7366 __UNKNOWN__ __UNKNOWN__ 4 69512637 69512637 __UNKNOWN__ 3'UTR SNP T T A rs4148271 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:69512637T>A ENST00000338206.5 - 0 1787 NM_001076.3 NP_001067.2 P54855 UDB15_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B15 NA NA cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) glucuronosyltransferase activity (GO:0015020) NA Acetaminophen(DB00316)|Dabigatran etexilate(DB06695)|Ezetimibe(DB00973)|Lorazepam(DB00186)|Morphine(DB00295)|Oxazepam(DB00842)|Valproic Acid(DB00313) TAAAAATCATTGACATAGAAT 0.338 NA t||| 413 0.0824681 0.0053 0.0504 5008 , , NA 15560 0.2698 NA 0.0149 False NA ,,, NA NA NA 2504 0.0859 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF180322 CCDS3524.1 4q13 2008-02-05 2005-07-20 ENSG00000196620 ENSG00000196620 7366 UDP glucuronosyltransferases 12546 protein-coding gene gene with protein product 600069 UDP glycosyltransferase 2 family, polypeptide B15 NA 7835904 Standard NM_001076 NM_001076 NA Approved UGT2B8 uc021xow.1 P54855 OTTHUMG00000161507 ENST00000338206.5:c.*185A>T chr4.hg19:g.69512637T>A NA A6NDX0|A6NNJ4|A8K054|P23765|Q9UK63 hg19 CCDS3524.1 0.02 11.29183 CATxGAC COVERED NOVEL UGT2B15-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000365172.1 6 9.627922 KEEP 0 0 0 32 981 TT 0.999997 0.999997 0 - 8 60 299 0 0 17.976319 270 70 9856 365 ENST00000338206.5 0.028777 1 UGT2B15 7366 __UNKNOWN__ __UNKNOWN__ 4 69533702 69533702 __UNKNOWN__ Intron SNP T T A rs2045100 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:69533702T>A ENST00000338206.5 - 2 883 NM_001076.3 NP_001067.2 P54855 UDB15_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B15 NA NA cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) glucuronosyltransferase activity (GO:0015020) NA Acetaminophen(DB00316)|Dabigatran etexilate(DB06695)|Ezetimibe(DB00973)|Lorazepam(DB00186)|Morphine(DB00295)|Oxazepam(DB00842)|Valproic Acid(DB00313) AAGAAACATATCCAGCCATTC 0.378 NA N||| 1222 0.24401 0.2791 0.3761 5008 , , NA 1456 0.2817 NA 0.1849 False NA ,,, NA NA NA 2504 0.1247 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF180322 CCDS3524.1 4q13 2008-02-05 2005-07-20 ENSG00000196620 ENSG00000196620 7366 UDP glucuronosyltransferases 12546 protein-coding gene gene with protein product 600069 UDP glycosyltransferase 2 family, polypeptide B15 NA 7835904 Standard NM_001076 NM_001076 NA Approved UGT2B8 uc021xow.1 P54855 OTTHUMG00000161507 ENST00000338206.5:c.873+55A>T chr4.hg19:g.69533702T>A NA A6NDX0|A6NNJ4|A8K054|P23765|Q9UK63 hg19 CCDS3524.1 0.02 6.651799 ATAxCCA COVERED NOVEL UGT2B15-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000365172.1 1 4.211457 KEEP 3 0 0 14 410 TT 0.995343 0.995343 0 - 8 60 290 0 0 19.008108 153 60 5578 193 ENST00000338206.5 0.049689 1 UGT2A3 79799 __UNKNOWN__ __UNKNOWN__ 4 69796240 69796240 __UNKNOWN__ Intron SNP G G C rs3828503 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:69796240G>C ENST00000251566.4 - 5 1335 UGT2A3_ENST00000420231.2_Intron NM_024743.3 NP_079019.3 Q6UWM9 UD2A3_HUMAN UDP glucuronosyltransferase 2 family, polypeptide A3 NA NA cellular glucuronidation (GO:0052695) integral component of membrane (GO:0016021) glucuronosyltransferase activity (GO:0015020) NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 TGTTAGATCAGTCTGTACAAG 0.353 NA G||| 442 0.0882588 0.1036 0.0274 5008 , , NA 20063 0.2083 NA 0.0109 False NA ,,, NA NA NA 2504 0.0665 NA NA NA NA 0 G 295,4109 160.7+/-193.0 6,283,1913 112 109 110 -0.9 0 4 dbSNP_107 110 69,8531 40.8+/-97.7 1,67,4232 no intron UGT2A3 NM_024743.3 7,350,6145 CC,CG,GG 0.8023,6.6985,2.7991 69796240 364,12640 2202 4300 6502 SO:0001627 intron_variant CCDS3525.1 4q13.2 2010-12-14 ENSG00000135220 ENSG00000135220 79799 UDP glucuronosyltransferases 28528 protein-coding gene gene with protein product NA Standard NM_024743 NM_024743 NA Approved FLJ21934 uc003hef.2 Q6UWM9 OTTHUMG00000129408 ENST00000251566.4:c.1304+23C>G chr4.hg19:g.69796240G>C NA Q9H6S4 hg19 CCDS3525.1 0.02 4.347173 TCAxTCT COVERED NOVEL UGT2A3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251564.1 2 4.213427 KEEP 0 0 0 14 489 GG 0.995343 0.995343 0 - 6 60 226 0 0 14.709389 134 60 5110 190 ENST00000251566.4 0.042857 1 UGT2B7 7364 __UNKNOWN__ __UNKNOWN__ 4 69962610 69962610 __UNKNOWN__ Silent SNP A A G rs28365063 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:69962610A>G ENST00000508661.1 + 1 399 c.372A>G c.(370-372)agA>agG p.R124R UGT2B7_ENST00000305231.7_Silent_p.R124R|UGT2B7_ENST00000509763.1_Intron P16662 UD2B7_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B7 124 NA androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629) endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020) glucuronosyltransferase activity (GO:0015020) autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495) ACATAACTAGAAAGTTCTGTA 0.313 NA A||| 669 0.133586 0.0749 0.0908 5008 , , NA 20982 0.1706 NA 0.1909 False NA ,,, NA NA NA 2504 0.1462 NA NA NA NA 0 A 329,4045 151.0+/-185.0 13,303,1871 52 53 52 372 -0.4 0 4 dbSNP_126 52 1508,7086 272.6+/-290.2 137,1234,2926 no coding-synonymous UGT2B7 NM_001074.2 150,1537,4797 GG,GA,AA 17.5471,7.5217,14.1656 124/530 69962610 1837,11131 2187 4297 6484 SO:0001819 synonymous_variant BC030974 CCDS3526.1 4q13 2008-02-05 2005-07-20 ENSG00000171234 ENSG00000171234 7364 UDP glucuronosyltransferases 12554 protein-coding gene gene with protein product 600068 UDP glycosyltransferase 2 family, polypeptide B7 NA 2159463, 7835904 Standard NM_001074 NM_001074 NA Approved UGT2B9 uc003heg.4 P16662 OTTHUMG00000129404 ENST00000508661.1:c.372A>G chr4.hg19:g.69962610A>G NA B2R810|Q6GTW0 hg19 0.02 6.478039 TAGxAAG COVERED NOVEL UGT2B7-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000362103.1 2 2.407335 KEEP 0 0 0 8 250 AA 0.99257 0.99257 0 + 14 60 505 0 0 36.648505 144 60 5094 166 ENST00000508661.1 0.088608 1 RP11-704M14.1 0 __UNKNOWN__ __UNKNOWN__ 4 70047824 70047824 __UNKNOWN__ RNA SNP C C T rs11932904 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:70047824C>T ENST00000504301.1 + 0 7 NA NA NA GCTTATAGACCCTGTGATTCC 0.438 NA C||| 1297 0.258986 0.4009 0.245 5008 , , NA 15393 0.2361 NA 0.1511 False NA ,,, NA NA NA 2504 0.2117 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000504301.1: chr4.hg19:g.70047824C>T NA hg19 0.02 2.092182 GACxCTG COVERED NOVEL RP11-704M14.1-002 KNOWN basic antisense NA antisense OTTHUMT00000365534.1 1 2.708814 KEEP 1 0 0 9 317 CC 0.99254 0.988259 0 + 5 60 187 0 0 13.333634 63 60 2288 86 ENST00000504301.1 0.073529 0.995687 UGT2B11 10720 __UNKNOWN__ __UNKNOWN__ 4 70065887 70065887 __UNKNOWN__ 3'UTR SNP A A G rs141627522 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:70065887A>G ENST00000446444.1 - 0 1869 RP11-704M14.1_ENST00000504301.1_RNA NM_001073.1 NP_001064.1 O75310 UDB11_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B11 NA NA estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) glucuronosyltransferase activity (GO:0015020) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 42 TAAGTGCAACAAATTTCAATA 0.269 NA .||| 216 0.043131 0.0015 0.0058 5008 , , NA 14626 0.1885 NA 0.004 False NA ,,, NA NA NA 2504 0.0164 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF016492 CCDS3527.1 4q13.3 2008-02-05 2005-07-20 ENSG00000213759 ENSG00000213759 10720 UDP glucuronosyltransferases 12545 protein-coding gene gene with protein product 603064 UDP glycosyltransferase 2 family, polypeptide B11 NA 9675083 Standard NM_001073 NM_001073 NA Approved uc003heh.3 O75310 OTTHUMG00000129395 ENST00000446444.1:c.*271T>C chr4.hg19:g.70065887A>G NA Q3KNV9 hg19 CCDS3527.1 0.02 8.952669 AACxAAT COVERED NOVEL UGT2B11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251551.2 1 11.434391 KEEP 0 0 0 38 1195 AA 1 1 0 - 11 60 398 0 0 26.434815 194 60 7196 316 ENST00000446444.1 0.053659 1 UGT2B11 10720 __UNKNOWN__ __UNKNOWN__ 4 70066319 70066319 __UNKNOWN__ Silent SNP G G T rs72551394 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:70066319G>T ENST00000446444.1 - 6 1437 c.1429C>A c.(1429-1431)Cga>Aga p.R477R RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA NM_001073.1 NP_001064.1 O75310 UDB11_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B11 477 NA estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) glucuronosyltransferase activity (GO:0015020) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 42 GCTGCAACTCGAAGGTGTTTG 0.458 NA .||| 378 0.0754792 0.0424 0.0562 5008 , , NA 15920 0.1865 NA 0.0437 False NA ,,, NA NA NA 2504 0.0521 NA NA NA NA 0 G 210,4196 3,204,1996 127 122 124 1429 0.3 0.2 4 dbSNP_130 124 294,8306 4,286,4010 no coding-synonymous UGT2B11 NM_001073.1 7,490,6006 TT,TG,GG 3.4186,4.7662,3.8751 477/530 70066319 504,12502 2203 4300 6503 SO:0001819 synonymous_variant AF016492 CCDS3527.1 4q13.3 2008-02-05 2005-07-20 ENSG00000213759 ENSG00000213759 10720 UDP glucuronosyltransferases 12545 protein-coding gene gene with protein product 603064 UDP glycosyltransferase 2 family, polypeptide B11 NA 9675083 Standard NM_001073 NM_001073 NA Approved uc003heh.3 O75310 OTTHUMG00000129395 ENST00000446444.1:c.1429C>A chr4.hg19:g.70066319G>T NA Q3KNV9 hg19 CCDS3527.1 0.02 6.097089 CTCxAAG COVERED NOVEL UGT2B11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251551.2 0 6.320199 KEEP 0 0 0 21 711 GG 0.999869 0.999869 0 - 16 60 573 0 0 41.09854 174 60 6400 245 ENST00000446444.1 0.084211 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 70108585 70108585 __UNKNOWN__ IGR SNP A A T rs11935868 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:70108585A>T NA NA RP11-704M14.1 (26101 upstream) : UGT2B28 (37631 downstream) NA NA NA TCCATATGCCATAGGATAAAA 0.378 NA .||| 352 0.0702875 0.0295 0.0519 5008 , , NA 21882 0.1835 NA 0.0437 False NA ,,, NA NA NA 2504 0.0491 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.70108585A>T NA hg19 0.02 4.809884 GCCxTAG COVERED NOVEL 0 0 2.407267 KEEP 0 0 0 8 253 AA 0.99257 0.992563 0 7 60 266 0 0 18.626935 103 60 3780 136 0.063636 0.999993 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 70116534 70116534 __UNKNOWN__ IGR SNP T T C rs11940377 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:70116534T>C NA NA RP11-704M14.1 (34050 upstream) : UGT2B28 (29682 downstream) NA NA NA AAAGAGGGAATAGGTCTTTCC 0.333 NA .||| 353 0.0704872 0.0295 0.0519 5008 , , NA 20301 0.1835 NA 0.0447 False NA ,,, NA NA NA 2504 0.0491 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.70116534T>C NA hg19 0.02 4.631503 GAAxAGG COVERED NOVEL 0 2 3.009135 KEEP 0 0 0 10 316 TT 0.992708 0.992706 0 6 60 224 0 0 14.943465 113 60 3697 137 0.05042 0.999998 UGT2B28 54490 __UNKNOWN__ __UNKNOWN__ 4 70146719 70146719 __UNKNOWN__ Silent SNP G G C rs72551401 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:70146719G>C ENST00000335568.5 + 1 503 c.501G>C c.(499-501)ccG>ccC p.P167P UGT2B28_ENST00000511240.1_Silent_p.P167P NM_053039.1 NP_444267.1 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B28 167 NA metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) glucuronosyltransferase activity (GO:0015020) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 TTAACATACCGTTTGTGTACA 0.408 NA -||| 242 0.0483227 0.003 0.0058 5008 , , NA 14635 0.2044 NA 0.006 False NA ,,, NA NA NA 2504 0.0225 NA NA NA NA 0 117 124 122 NA NA 4 NA 70146719 2031 4233 6264 SO:0001819 synonymous_variant AF177272 CCDS3528.1, CCDS56330.1 4q13.3 2011-02-09 2005-07-20 ENSG00000135226 ENSG00000135226 54490 UDP glucuronosyltransferases 13479 protein-coding gene gene with protein product 606497 UDP glycosyltransferase 2 family, polypeptide B28 NA 11300766 Standard NM_053039 NM_053039 NA Approved uc003hej.3 Q9BY64 OTTHUMG00000129401 ENST00000335568.5:c.501G>C chr4.hg19:g.70146719G>C NA B5BUM0|Q9BY62|Q9BY63 hg19 CCDS3528.1 0.02 12.025441 ACCxTTT COVERED NOVEL UGT2B28-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251557.2 1 10.534497 KEEP 0 0 0 35 1251 GG 0.999999 0.999999 0 + 17 60 642 0 0 44.646257 257 60 9219 390 ENST00000335568.5 0.062044 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 70276652 70276652 __UNKNOWN__ IGR SNP A A T rs200080003 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:70276652A>T NA NA UGT2B28 (115884 upstream) : AC108078.1 (68396 downstream) NA NA NA TTCCTCATCCATTCTTACCAA 0.413 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.70276652A>T NA hg19 0.02 12.49116 TCCxTTC COVERED NOVEL 0 2 8.423412 KEEP 0 0 0 28 831 AA 0.999997 0.999997 0 13 60 479 0 0 31.825918 243 60 8986 340 0.050781 1 SULT1B1 27284 __UNKNOWN__ __UNKNOWN__ 4 70599073 70599073 __UNKNOWN__ Intron SNP C C T rs1847366 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:70599073C>T ENST00000310613.3 - 6 895 NM_014465.3 NP_055280.2 O43704 ST1B1_HUMAN sulfotransferase family, cytosolic, 1B, member 1 NA NA 3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|cellular biogenic amine metabolic process (GO:0006576)|epithelial cell differentiation (GO:0030855)|flavonoid metabolic process (GO:0009812)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|thyroid hormone metabolic process (GO:0042403)|xenobiotic metabolic process (GO:0006805) cytosol (GO:0005829) aryl sulfotransferase activity (GO:0004062)|sulfotransferase activity (GO:0008146) breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1) 24 CAAATATCAACCCTTTTACAG 0.348 NA T||| 2223 0.44389 0.2489 0.5159 5008 , , NA 16630 0.5992 NA 0.4165 False NA ,,, NA NA NA 2504 0.5245 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D89479 CCDS3530.1 4q13.3 2008-02-05 ENSG00000173597 ENSG00000173597 27284 Sulfotransferases, cytosolic 17845 protein-coding gene gene with protein product 608436 NA 11688987, 9443824 Standard NM_014465 NM_014465 NA Approved ST1B2 uc003hen.3 O43704 OTTHUMG00000129407 ENST00000310613.3:c.597+57G>A chr4.hg19:g.70599073C>T NA O15497|Q96FI1|Q9UK34 hg19 CCDS3530.1 0.02 3.792134 CAAxCCT COVERED NOVEL SULT1B1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251563.2 1 6.01901 KEEP 0 0 0 20 700 CC 0.999863 0.999863 0 - 6 60 202 0 0 12.431935 129 60 4862 180 ENST00000310613.3 0.044444 1 CSN1S1 1446 __UNKNOWN__ __UNKNOWN__ 4 70804849 70804849 __UNKNOWN__ Intron SNP C C A rs2279526 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:70804849C>A ENST00000246891.4 + 10 292 CSN1S1_ENST00000507772.1_Intron|CSN1S1_ENST00000444405.3_Intron|CSN1S1_ENST00000507763.1_Intron|CSN1S1_ENST00000505782.1_Intron NM_001890.1 NP_001881.1 P47710 CASA1_HUMAN casein alpha s1 NA NA extracellular region (GO:0005576)|extracellular space (GO:0005615) transporter activity (GO:0005215) lung(5)|prostate(1)|upper_aerodigestive_tract(1) 7 CCTTCAAATTCTAAAAATCCC 0.328 NA C||| 1021 0.203874 0.0681 0.1686 5008 , , NA 17100 0.4117 NA 0.2465 False NA ,,, NA NA NA 2504 0.1544 NA NA NA NA 0 C , 363,3237 18,327,1455 57 56 56 , 0.4 0 4 dbSNP_100 56 2078,6038 278,1522,2258 no intron,intron CSN1S1 NM_001025104.1,NM_001890.1 , 296,1849,3713 AA,AC,CC 25.6037,10.0833,20.8348 , , 70804849 2441,9275 1800 4058 5858 SO:0001627 intron_variant X78416 CCDS47067.1, CCDS54769.1 4q21.1 2014-02-19 2003-01-24 2003-01-31 ENSG00000126545 ENSG00000126545 1446 2445 protein-coding gene gene with protein product 115450 casein, alpha CASA, CSN1 NA 9050925, 7619062 Standard NM_001890 NA Approved uc003hep.1 P47710 OTTHUMG00000160843 ENST00000246891.4:c.244-45C>A chr4.hg19:g.70804849C>A NA A1A510|A1A511|E9PB60|Q4PNR5 hg19 CCDS47067.1 0.02 2.071566 ATTxTAA COVERED NOVEL CSN1S1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000362629.1 1 4.213669 KEEP 0 0 0 14 492 CC 0.995343 0.995238 0 + 10 60 373 0 0 28.287788 83 60 3146 138 ENST00000246891.4 0.107527 0.999895 HTN3 3347 __UNKNOWN__ __UNKNOWN__ 4 70898953 70898953 __UNKNOWN__ 3'UTR SNP C C T rs1136515 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:70898953C>T ENST00000530128.1 + 0 247 HTN3_ENST00000381057.3_3'UTR|HTN3_ENST00000526767.1_3'UTR P15516 HIS3_HUMAN histatin 3 NA NA biomineral tissue development (GO:0031214)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|killing of cells of other organism (GO:0031640) extracellular region (GO:0005576) metal ion binding (GO:0046872) breast(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1) 8 TCAGTAATCACGGGGCATGAT 0.343 NA c||| 2403 0.479832 0.298 0.4712 5008 , , NA 20175 0.629 NA 0.5885 False NA ,,, NA NA NA 2504 0.4663 NA NA NA NA 0 T 1394,3012 456.5+/-351.3 241,912,1050 108 97 100 -0.5 0 4 dbSNP_86 100 5009,3591 626.5+/-397.9 1482,2045,773 no utr-3 HTN3 NM_000200.2 1723,2957,1823 TT,TC,CC 41.7558,31.6387,49.2311 70898953 6403,6603 2203 4300 6503 SO:0001624 3_prime_UTR_variant CCDS33999.1 4q13 2008-08-29 3347 5284 protein-coding gene gene with protein product 142702 NA Standard NM_000200 NM_000200 NA Approved HIS2 uc003hew.2 P15516 ENST00000530128.1:c.*16C>T chr4.hg19:g.70898953C>T NA Q16243|Q502Z1 hg19 CCDS33999.1 0.02 36.75267 TCAxGGG COVERED NOVEL HTN3-006 KNOWN alternative_3_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000387375.1 2 16.988495 KEEP 0 1 30 67 2299 CC 1 1 0 + 36 60 1336 0 0 86.370952 801 60 28321 1080 ENST00000530128.1 0.043011 1 HTN3 3347 __UNKNOWN__ __UNKNOWN__ 4 70899037 70899037 __UNKNOWN__ Intron SNP T T A rs776852|rs3841640|rs567275533 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:70899037T>A ENST00000530128.1 + 5 264 HTN3_ENST00000381057.3_Intron|HTN3_ENST00000526767.1_Intron P15516 HIS3_HUMAN histatin 3 NA NA biomineral tissue development (GO:0031214)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|killing of cells of other organism (GO:0031640) extracellular region (GO:0005576) metal ion binding (GO:0046872) breast(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1) 8 AAGGAAAAATTAAAAAAAAGC 0.343 NA 3985 0.795727 0.9349 0.7061 5008 , , NA 20188 0.8681 NA 0.7316 False NA ,,, NA NA NA 2504 0.6626 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS33999.1 4q13 2008-08-29 3347 5284 protein-coding gene gene with protein product 142702 NA Standard NM_000200 NM_000200 NA Approved HIS2 uc003hew.2 P15516 ENST00000530128.1:c.153+67T>A chr4.hg19:g.70899037T>A NA Q16243|Q502Z1 hg19 CCDS33999.1 0.02 18.949542 AATxAAA COVERED NOVEL HTN3-006 KNOWN alternative_3_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000387375.1 1 12.671839 KEEP 0 1 31 53 1661 TT 1 1 0 + 22 60 791 1 0 50.528683 473 60 17024 634 ENST00000530128.1 0.044444 1 HTN3 3347 __UNKNOWN__ __UNKNOWN__ 4 70899273 70899273 __UNKNOWN__ Intron SNP C C G rs13118941 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:70899273C>G ENST00000530128.1 + 5 264 HTN3_ENST00000381057.3_Intron|HTN3_ENST00000526767.1_Intron P15516 HIS3_HUMAN histatin 3 NA NA biomineral tissue development (GO:0031214)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|killing of cells of other organism (GO:0031640) extracellular region (GO:0005576) metal ion binding (GO:0046872) breast(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1) 8 atgccttcagctttgttcctt 0.363 NA C||| 2515 0.502196 0.3775 0.4813 5008 , , NA 20446 0.629 NA 0.5885 False NA ,,, NA NA NA 2504 0.4663 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS33999.1 4q13 2008-08-29 3347 5284 protein-coding gene gene with protein product 142702 NA Standard NM_000200 NM_000200 NA Approved HIS2 uc003hew.2 P15516 ENST00000530128.1:c.153+303C>G chr4.hg19:g.70899273C>G NA Q16243|Q502Z1 hg19 CCDS33999.1 0.02 2.370569 CAGxTTT COVERED NOVEL HTN3-006 KNOWN alternative_3_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000387375.1 1 5.116906 KEEP 0 0 0 17 619 CC 0.999366 0.985529 0 + 4 60 153 0 0 10.860245 55 60 1985 87 ENST00000530128.1 0.067797 0.986153 HTN1 3346 __UNKNOWN__ __UNKNOWN__ 4 70921337 70921337 __UNKNOWN__ 3'UTR SNP G G A rs2271644 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:70921337G>A ENST00000511674.1 + 0 296 HTN1_ENST00000246896.3_Intron P15515 HIS1_HUMAN histatin 1 NA NA biomineral tissue development (GO:0031214)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|killing of cells of other organism (GO:0031640) extracellular region (GO:0005576) endometrium(1)|large_intestine(1)|lung(2)|skin(2) 6 GACTCTAGTTGCTTGTCTTTC 0.348 NA A||| 3987 0.796126 0.9387 0.7061 5008 , , NA 19760 0.869 NA 0.7266 False NA ,,, NA NA NA 2504 0.6636 NA NA NA NA 0 A 3882,524 225.6+/-241.4 1720,442,41 54 50 52 0 0 4 dbSNP_100 52 6002,2592 397.0+/-345.6 2122,1758,417 no intron HTN1 NM_002159.2 3842,2200,458 AA,AG,GG 30.1606,11.8929,23.9692 70921337 9884,3116 2203 4297 6500 SO:0001624 3_prime_UTR_variant CCDS3534.1 4q13 2008-02-05 ENSG00000126550 ENSG00000126550 3346 5283 protein-coding gene gene with protein product 142701 NA Standard NM_002159 NA Approved HIS1 uc003hex.3 P15515 OTTHUMG00000129397 ENST00000511674.1:c.*51G>A chr4.hg19:g.70921337G>A NA hg19 CCDS3534.1 0.02 33.000206 GTTxCTT COVERED NOVEL HTN1-005 KNOWN alternative_3_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000362220.2 4 6.225067 KEEP 0 3 92 53 1923 GG 1 1 0 + 42 60 1435 0 0 91.84913 769 60 29173 1049 ENST00000511674.1 0.051788 1 CSN3 1448 __UNKNOWN__ __UNKNOWN__ 4 71114956 71114956 __UNKNOWN__ Missense_Mutation SNP G G T rs1048152 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:71114956G>T ENST00000304954.3 + 4 415 c.329G>T c.(328-330)cGc>cTc p.R110L NM_005212.2 NP_005203.2 Q9UNS2 CSN3_HUMAN casein kappa 0 NA cullin deneddylation (GO:0010388)|in utero embryonic development (GO:0001701)|response to light stimulus (GO:0009416)|signal transduction (GO:0007165) COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737) p.R110L(1) central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 18 GTGGTACGTCGCCCAAACCTG 0.468 NA G||| 700 0.139776 0.0983 0.1671 5008 , , NA 17937 0.2183 NA 0.1074 False NA ,,, NA NA NA 2504 0.1288 NA NA NA NA 1 Substitution - Missense(1) stomach(1) G LEU/ARG 387,4019 192.6+/-218.0 23,341,1839 128 113 118 329 -5.3 0 4 dbSNP_86 118 790,7810 186.0+/-233.6 33,724,3543 yes missense CSN3 NM_005212.2 102 56,1065,5382 TT,TG,GG 9.186,8.7835,9.0497 possibly-damaging 110/183 71114956 1177,11829 2203 4300 6503 SO:0001583 missense U51899 CCDS3538.1 4q21.1 2014-02-19 2003-01-24 2003-01-31 ENSG00000171209 ENSG00000171209 1448 2446 protein-coding gene gene with protein product 601695 casein, kappa CSN10 NA 8863730, 9050925 Standard NM_005212 NM_005212 NA Approved uc003hfe.4 P07498 OTTHUMG00000129399 ENST00000304954.3:c.329G>T chr4.hg19:g.71114956G>T ENSP00000304822:p.Arg110Leu NA B2R683|B4DY81|O43191|Q7LDR6 hg19 CCDS3538.1 0.02 21.91408 GTCxCCC COVERED 330 0.1510989010989011 57 0.11585365853658537 58 0.16022099447513813 135 0.23601398601398602 80 0.10554089709762533 G 11.08 1.532121 0.27387 0.087835 0.09186 ENSG00000171209 ENST00000304954 T 0.24908 1.83 4.52 -5.34 0.02705 . 1.546140 0.03341 N 0.194826 T 0.00012 0.0000 L 0.55990 1.75 0.80722 P 0.0 B 0.23490 0.086 B 0.26517 0.07 T 0.36016 -0.9765 9 0.66056 D 0.02 -11.5426 1.091 0.01663 0.3163:0.286:0.2587:0.139 rs1048152;rs2671467;rs3775742;rs17148414;rs1048152 110 P07498 CASK_HUMAN L 110 ENSP00000304822:R110L ENSP00000304822:R110L R + 2 0 CSN3 71149545 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -2.249000 0.01188 -0.757000 0.04697 -2.558000 0.00175 CGC NOVEL CSN3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251555.1 5 21.368112 KEEP 0 0 0 71 2487 GG 1 1 0 + 18 60 645 0 0 39.249435 503 60 17544 717 ENST00000304954.3 0.034549 1 CABS1 85438 __UNKNOWN__ __UNKNOWN__ 4 71201597 71201597 __UNKNOWN__ Missense_Mutation SNP C C T rs182023781 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:71201597C>T ENST00000273936.5 + 1 915 c.841C>T c.(841-843)Cgg>Tgg p.R281W NM_033122.3 NP_149113.3 Q96KC9 CABS1_HUMAN calcium-binding protein, spermatid-specific 1 281 NA spermatogenesis (GO:0007283) mitochondrial inner membrane (GO:0005743)|motile cilium (GO:0031514) calcium ion binding (GO:0005509) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 CAAAGATAAACGGGAAGATAC 0.423 NA C||| 9 0.00179712 0.0 0.0 5008 , , NA 21884 0.0089 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 98 94 95 NA NA 4 NA 71201597 2203 4300 6503 SO:0001583 missense AF380838 CCDS3539.1 4q13.3 2013-10-11 2011-01-25 2011-01-25 ENSG00000145309 ENSG00000145309 85438 30710 protein-coding gene gene with protein product casein-like phosphoprotein chromosome 4 open reading frame 35 C4orf35 NA 19208547, 19271754 Standard NM_033122 NM_033122 NA Approved NYD-SP26, FLJ32897, CLPH uc003hff.3 Q96KC9 OTTHUMG00000129405 ENST00000273936.5:c.841C>T chr4.hg19:g.71201597C>T ENSP00000273936:p.Arg281Trp NA B2RCB5|Q86UE0|Q96M17 hg19 CCDS3539.1 0.02 23.593364 AAAxGGG COVERED 5 0.0022893772893772895 0 0.0 0 0.0 5 0.008741258741258742 0 0.0 C 3.490 -0.104154 0.06967 . . ENSG00000145309 ENST00000273936 T 0.22539 1.95 4.57 0.745 0.18359 . 1.053410 0.07537 N 0.913133 T 0.08980 0.0222 N 0.08118 0 0.09310 N 1 B 0.32653 0.379 B 0.36186 0.219 T 0.37957 -0.9683 10 0.72032 D 0.01 -29.3333 8.1306 0.31024 0.0:0.4444:0.4658:0.0898 . 281 Q96KC9 CABS1_HUMAN W 281 ENSP00000273936:R281W ENSP00000273936:R281W R + 1 2 CABS1 71236186 0.000000 0.05858 0.002000 0.10522 0.003000 0.03518 -1.259000 0.02861 -0.008000 0.14320 -0.878000 0.02970 CGG NOVEL CABS1-001 KNOWN NMD_exception|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251561.3 3 10.098255 KEEP 0 2 55 53 1795 CC 1 1 0 + 19 60 707 0 0 43.831365 536 60 18529 705 ENST00000273936.5 0.034234 1 MUC7 4589 __UNKNOWN__ __UNKNOWN__ 4 71348320 71348320 __UNKNOWN__ 3'UTR SNP G G A rs3822162 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:71348320G>A ENST00000304887.5 + 0 2049 MUC7_ENST00000413702.1_3'UTR|MUC7_ENST00000456088.1_3'UTR NM_152291.2 NP_689504.2 Q8TAX7 MUC7_HUMAN mucin 7, secreted NA NA cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796) central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) AGTTAATTTCGATCTAATGTA 0.328 NA G||| 785 0.156749 0.0893 0.1354 5008 , , NA 17410 0.1855 NA 0.2038 False NA ,,, NA NA NA 2504 0.1851 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC025688 CCDS3541.1 4q13.3 2008-02-05 2006-03-14 ENSG00000171195 ENSG00000171195 4589 Mucins 7518 protein-coding gene gene with protein product 158375 mucin 7, salivary NA 8838308 Standard NM_152291 NM_152291 NA Approved FLJ27047, MG2 uc003hfj.3 Q8TAX7 OTTHUMG00000129916 ENST00000304887.5:c.*725G>A chr4.hg19:g.71348320G>A NA Q9UCD7|Q9UCD8 hg19 CCDS3541.1 0.02 6.78054 TTCxATC COVERED NOVEL MUC7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252168.2 0 3.310772 KEEP 0 0 0 11 383 GG 0.993072 0.993072 0 + 7 60 262 0 0 16.888628 162 60 5966 207 ENST00000304887.5 0.04142 1 AMTN 401138 __UNKNOWN__ __UNKNOWN__ 4 71384537 71384537 __UNKNOWN__ Missense_Mutation SNP C C T rs35286445 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:71384537C>T ENST00000339336.4 + 2 173 c.43C>T c.(43-45)Cgg>Tgg p.R15W AMTN_ENST00000504451.1_Missense_Mutation_p.R15W NM_212557.2 NP_997722.1 Q6UX39 AMTN_HUMAN amelotin 15 NA biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|odontogenesis of dentin-containing tooth (GO:0042475) basal lamina (GO:0005605)|cell-cell junction (GO:0005911)|proteinaceous extracellular matrix (GO:0005578) NS(3)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)|skin(1) 19 Lung(101;0.235) AGGATCAACTCGGTCATTACC 0.393 NA C||| 571 0.114018 0.0068 0.1052 5008 , , NA 19467 0.1875 NA 0.164 False NA ,,, NA NA NA 2504 0.138 NA NA NA NA 0 C TRP/ARG 139,4267 99.4+/-138.0 2,135,2066 243 223 230 43 4.9 1 4 dbSNP_126 230 1198,7402 242.2+/-272.3 86,1026,3188 yes missense AMTN NM_212557.2 101 88,1161,5254 TT,TC,CC 13.9302,3.1548,10.2799 possibly-damaging 15/210 71384537 1337,11669 2203 4300 6503 SO:0001583 missense AY358528 CCDS3542.1, CCDS68716.1 4q13.3 2006-12-12 ENSG00000187689 ENSG00000187689 401138 33188 protein-coding gene gene with protein product 610912 NA 16304441 Standard NM_212557 NM_001286731 NA Approved UNQ689, RSTI689 uc003hfk.1 Q6UX39 OTTHUMG00000129906 ENST00000339336.4:c.43C>T chr4.hg19:g.71384537C>T ENSP00000341013:p.Arg15Trp NA Q0P503|Q0P506 hg19 CCDS3542.1 0.02 30.396795 ACTxGGT COVERED 254 0.1163003663003663 3 0.006097560975609756 38 0.10497237569060773 105 0.18356643356643357 108 0.1424802110817942 C 13.10 2.137570 0.37728 0.031548 0.139302 ENSG00000187689 ENST00000339336;ENST00000504451 T;T 0.33654 1.41;1.4 5.76 4.91 0.64330 . 0.589854 0.15252 N 0.272246 T 0.00039 0.0001 N 0.08118 0 0.50813 P 1.0500000000002174E-4 P;P 0.49447 0.924;0.924 B;B 0.39152 0.292;0.292 T 0.08513 -1.0718 9 0.54805 T 0.06 0.2352 12.1289 0.53932 0.1714:0.8286:0.0:0.0 rs35286445 15;15 Q6UX39-2;Q6UX39 .;AMTN_HUMAN W 15 ENSP00000341013:R15W;ENSP00000422452:R15W ENSP00000341013:R15W R + 1 2 AMTN 71419126 1.000000 0.71417 0.997000 0.53966 0.687000 0.40016 2.234000 0.43035 1.423000 0.47198 0.655000 0.94253 CGG NOVEL AMTN-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000252157.1 1 17.756174 KEEP 0 0 0 59 1977 CC 1 1 0 + 25 60 936 1 0 58.036808 719 60 25524 943 ENST00000339336.4 0.033602 1 SLC4A4 8671 __UNKNOWN__ __UNKNOWN__ 4 72412029 72412029 __UNKNOWN__ Intron SNP G G A rs3733362 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:72412029G>A ENST00000264485.5 + 19 2559 SLC4A4_ENST00000340595.3_Intron|SLC4A4_ENST00000425175.1_Intron|SLC4A4_ENST00000351898.6_Intron NM_001098484.2 NP_001091954.1 Q9Y6R1 S4A4_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 4 NA NA bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810) basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) Sodium bicarbonate(DB01390) GCGAATATGAGTCTTTTCTTC 0.418 NA G||| 1505 0.300519 0.4327 0.1585 5008 , , NA 20114 0.4762 NA 0.0527 False NA ,,, NA NA NA 2504 0.2965 NA NA NA NA 0 G ,, 1565,2841 490.8+/-361.9 267,1031,905 139 124 129 ,, 3.3 0 4 dbSNP_107 129 586,8014 156.0+/-209.9 12,562,3726 no intron,intron,intron SLC4A4 NM_001098484.2,NM_001134742.1,NM_003759.3 ,, 279,1593,4631 AA,AG,GG 6.814,35.5197,16.5385 ,, ,, 72412029 2151,10855 2203 4300 6503 SO:0001627 intron_variant AF007216 CCDS3549.1, CCDS43236.1, CCDS47071.1 4q13.3 2013-07-19 2013-07-19 ENSG00000080493 ENSG00000080493 8671 Solute carriers 11030 protein-coding gene gene with protein product 603345 solute carrier family 4, sodium bicarbonate cotransporter, member 4 SLC4A5 NA 9235899, 9651366 Standard NM_003759 NM_001098484 NA Approved NBC1, HNBC1, NBC2, pNBC, hhNMC uc010iic.3 Q9Y6R1 OTTHUMG00000129907 ENST00000264485.5:c.2443-38G>A chr4.hg19:g.72412029G>A NA C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50 hg19 CCDS43236.1 0.02 2.133221 TGAxTCT COVERED NOVEL SLC4A4-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000362090.1 0 2.407993 KEEP 0 0 0 8 298 GG 0.99257 0.99225 0 + 5 60 185 0 0 12.604316 81 60 3076 104 ENST00000264485.5 0.05814 0.999678 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 73615800 73615800 __UNKNOWN__ IGR SNP T T C rs723341 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:73615800T>C NA NA ADAMTS3 (181284 upstream) : RNU4ATAC9P (215094 downstream) NA NA NA ACCTGCCATATGACTGTCAAC 0.393 NA T||| 838 0.167332 0.2194 0.1311 5008 , , NA 20552 0.1815 NA 0.0875 False NA ,,, NA NA NA 2504 0.1902 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.73615800T>C NA hg19 0.02 4.410689 ATAxGAC COVERED NOVEL 0 1 3.60898 KEEP 0 0 0 12 344 TT 0.993634 0.993626 0 5 60 190 0 0 12.554843 105 60 3829 127 0.045455 0.999993 ANKRD17 26057 __UNKNOWN__ __UNKNOWN__ 4 73940465 73940465 __UNKNOWN__ 3'UTR SNP T T A rs11727957 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:73940465T>A ENST00000358602.4 - 0 9411 NM_032217.3 NP_115593.3 O75179 ANR17_HUMAN ankyrin repeat domain 17 NA NA blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032) cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634) poly(A) RNA binding (GO:0044822) NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3) 96 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) AGTGTGAAATTTTATGTCTAA 0.239 NA T||| 1699 0.339257 0.1861 0.2925 5008 , , NA 16595 0.3899 NA 0.4503 False NA ,,, NA NA NA 2504 0.4131 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB014597 CCDS34003.1, CCDS34004.1, CCDS68721.1 4q21.1-q21.21 2013-01-10 ENSG00000132466 ENSG00000132466 26057 Ankyrin repeat domain containing 23575 protein-coding gene gene with protein product 615929 NA 11165478 Standard NM_032217 NM_032217 NA Approved GTAR, KIAA0697, FLJ22206, NY-BR-16 uc003hgp.3 O75179 OTTHUMG00000160826 ENST00000358602.4:c.*1483A>T chr4.hg19:g.73940465T>A NA E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9 hg19 CCDS34004.1 0.02 8.900292 AATxTTA COVERED NOVEL ANKRD17-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000362475.1 2 21.362801 KEEP 0 0 0 71 2223 TT 1 1 0 - 9 60 311 0 0 19.283841 201 60 7259 317 ENST00000358602.4 0.042857 1 ANKRD17 26057 __UNKNOWN__ __UNKNOWN__ 4 73956736 73956736 __UNKNOWN__ Silent SNP G G A rs6855349 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:73956736G>A ENST00000358602.4 - 29 6725 c.6609C>T c.(6607-6609)ctC>ctT p.L2203L ANKRD17_ENST00000509867.2_Silent_p.L2090L|ANKRD17_ENST00000330838.6_Silent_p.L1952L NM_032217.3 NP_115593.3 O75179 ANR17_HUMAN ankyrin repeat domain 17 2203 NA blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032) cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634) poly(A) RNA binding (GO:0044822) NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3) 96 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) GATTGACACTGAGGACTGCAA 0.458 NA G||| 1762 0.351837 0.2375 0.2968 5008 , , NA 20331 0.3849 NA 0.4483 False NA ,,, NA NA NA 2504 0.4121 NA NA NA NA 0 G , 1217,3189 422.5+/-339.8 185,847,1171 134 141 139 6609,5856 3.7 1 4 dbSNP_116 139 3585,5015 519.3+/-379.4 736,2113,1451 no coding-synonymous,coding-synonymous ANKRD17 NM_032217.3,NM_198889.1 , 921,2960,2622 AA,AG,GG 41.686,27.6214,36.9214 , 2203/2604,1952/2353 73956736 4802,8204 2203 4300 6503 SO:0001819 synonymous_variant AB014597 CCDS34003.1, CCDS34004.1, CCDS68721.1 4q21.1-q21.21 2013-01-10 ENSG00000132466 ENSG00000132466 26057 Ankyrin repeat domain containing 23575 protein-coding gene gene with protein product 615929 NA 11165478 Standard NM_032217 NM_032217 NA Approved GTAR, KIAA0697, FLJ22206, NY-BR-16 uc003hgp.3 O75179 OTTHUMG00000160826 ENST00000358602.4:c.6609C>T chr4.hg19:g.73956736G>A NA E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9 hg19 CCDS34004.1 0.02 16.129345 ACTxAGG COVERED NOVEL ANKRD17-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000362475.1 3 26.184614 KEEP 0 0 0 87 3067 GG 1 1 0 - 14 60 462 0 0 26.202085 426 60 16178 611 ENST00000358602.4 0.031818 1 AFM 173 __UNKNOWN__ __UNKNOWN__ 4 74354520 74354520 __UNKNOWN__ Intron SNP A A G rs79279333 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:74354520A>G ENST00000226355.3 + 7 936 NM_001133.2 NP_001124.1 P43652 AFAM_HUMAN afamin NA NA vitamin transport (GO:0051180) blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) vitamin E binding (GO:0008431) breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 Breast(15;0.00102) Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) ATTTTTGGCAATTATCATTTT 0.343 NA A||| 205 0.0409345 0.0 0.0 5008 , , NA 16256 0.122 NA 0.001 False NA ,,, NA NA NA 2504 0.0828 NA NA NA NA 0 A 8,4398 14.3+/-33.2 0,8,2195 79 81 80 -7 0 4 dbSNP_131 80 27,8573 17.9+/-57.8 0,27,4273 no intron AFM NM_001133.2 0,35,6468 GG,GA,AA 0.314,0.1816,0.2691 74354520 35,12971 2203 4300 6503 SO:0001627 intron_variant L32140 CCDS3557.1 4q13.3 2008-06-11 ENSG00000079557 ENSG00000079557 173 316 protein-coding gene gene with protein product 104145 NA 7517938 Standard NM_001133 NA Approved ALB2, ALBA uc003hhb.3 P43652 OTTHUMG00000130004 ENST00000226355.3:c.843+44A>G chr4.hg19:g.74354520A>G NA A8K3E1|Q32MR3|Q4W5C5 hg19 CCDS3557.1 0.02 4.246048 GCAxTTA COVERED NOVEL AFM-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252275.2 0 4.212266 KEEP 0 0 0 14 428 AA 0.995343 0.99533 0 + 6 60 221 0 0 14.952022 100 60 3721 134 ENST00000226355.3 0.056604 0.999987 RASSF6 166824 __UNKNOWN__ __UNKNOWN__ 4 74438273 74438273 __UNKNOWN__ 3'UTR SNP G G A rs76240938 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:74438273G>A ENST00000307439.5 - 0 4987 NM_001270391.1|NM_177532.4 NP_001257320.1|NP_803876.1 Q6ZTQ3 RASF6_HUMAN Ras association (RalGDS/AF-6) domain family member 6 NA NA apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165) breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2) 17 Breast(15;0.00102) all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187) ataaaaagacgtaagtcacta 0.264 NA G||| 454 0.090655 0.0499 0.0288 5008 , , NA 14375 0.1845 NA 0.0686 False NA ,,, NA NA NA 2504 0.1155 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY217664 CCDS3558.1, CCDS3559.1, CCDS58904.1, CCDS58905.1 4q21.1 2008-02-22 2008-02-22 ENSG00000169435 ENSG00000169435 166824 20796 protein-coding gene gene with protein product 612620 NA Standard NM_177532 NM_177532 NA Approved uc003hhd.2 Q6ZTQ3 OTTHUMG00000130007 ENST00000307439.5:c.*3679C>T chr4.hg19:g.74438273G>A NA Q68DT2|Q6PDA6|Q86WG9|Q86WH0 hg19 CCDS3559.1 0.02 2.220756 GACxTAA COVERED NOVEL RASSF6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252278.2 0 8.72796 KEEP 0 0 0 29 997 GG 0.999997 0.998693 0 - 4 60 152 0 0 10.304648 72 60 2421 134 ENST00000307439.5 0.052632 0.998696 RASSF6 166824 __UNKNOWN__ __UNKNOWN__ 4 74438578 74438578 __UNKNOWN__ 3'UTR SNP T T G rs55783483 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:74438578T>G ENST00000307439.5 - 0 4682 NM_001270391.1|NM_177532.4 NP_001257320.1|NP_803876.1 Q6ZTQ3 RASF6_HUMAN Ras association (RalGDS/AF-6) domain family member 6 NA NA apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165) breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2) 17 Breast(15;0.00102) all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187) ctcataattctacaatgcaga 0.249 NA T||| 471 0.0940495 0.0605 0.0331 5008 , , NA 14416 0.1845 NA 0.0686 False NA ,,, NA NA NA 2504 0.1155 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY217664 CCDS3558.1, CCDS3559.1, CCDS58904.1, CCDS58905.1 4q21.1 2008-02-22 2008-02-22 ENSG00000169435 ENSG00000169435 166824 20796 protein-coding gene gene with protein product 612620 NA Standard NM_177532 NM_177532 NA Approved uc003hhd.2 Q6ZTQ3 OTTHUMG00000130007 ENST00000307439.5:c.*3374A>C chr4.hg19:g.74438578T>G NA Q68DT2|Q6PDA6|Q86WG9|Q86WH0 hg19 CCDS3559.1 0.02 8.562689 TTCxACA COVERED NOVEL RASSF6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252278.2 1 7.73686 KEEP 0 1 32 37 1146 TT 1 1 0 - 8 60 284 0 0 17.569138 196 60 7272 306 ENST00000307439.5 0.039216 1 RASSF6 166824 __UNKNOWN__ __UNKNOWN__ 4 74440552 74440552 __UNKNOWN__ 3'UTR SNP G G A rs17838981 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:74440552G>A ENST00000307439.5 - 0 2708 RASSF6_ENST00000342081.3_3'UTR|RASSF6_ENST00000395777.2_3'UTR NM_001270391.1|NM_177532.4 NP_001257320.1|NP_803876.1 Q6ZTQ3 RASF6_HUMAN Ras association (RalGDS/AF-6) domain family member 6 NA NA apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165) breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2) 17 Breast(15;0.00102) all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187) CTAACCTTTTGTCATGTTCAT 0.294 NA G||| 815 0.16274 0.3101 0.0519 5008 , , NA 18647 0.1845 NA 0.0696 False NA ,,, NA NA NA 2504 0.1155 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY217664 CCDS3558.1, CCDS3559.1, CCDS58904.1, CCDS58905.1 4q21.1 2008-02-22 2008-02-22 ENSG00000169435 ENSG00000169435 166824 20796 protein-coding gene gene with protein product 612620 NA Standard NM_177532 NM_177532 NA Approved uc003hhd.2 Q6ZTQ3 OTTHUMG00000130007 ENST00000307439.5:c.*1400C>T chr4.hg19:g.74440552G>A NA Q68DT2|Q6PDA6|Q86WG9|Q86WH0 hg19 CCDS3559.1 0.02 4.214189 TTTxTCA COVERED NOVEL RASSF6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252278.2 2 2.407461 KEEP 0 0 0 8 268 GG 0.99257 0.992569 0 - 6 60 225 0 0 14.997697 115 60 4327 132 ENST00000307439.5 0.049587 0.999999 RASSF6 166824 __UNKNOWN__ __UNKNOWN__ 4 74486245 74486245 __UNKNOWN__ 5'UTR SNP C C T rs1919471 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:74486245C>T ENST00000307439.5 - 0 20 RASSF6_ENST00000342081.3_5'UTR NM_001270391.1|NM_177532.4 NP_001257320.1|NP_803876.1 Q6ZTQ3 RASF6_HUMAN Ras association (RalGDS/AF-6) domain family member 6 NA NA apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165) breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2) 17 Breast(15;0.00102) all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187) GCAGTGCCCCCGACGCGATCA 0.642 NA C||| 621 0.124002 0.0174 0.1153 5008 , , NA 15913 0.3036 NA 0.0905 False NA ,,, NA NA NA 2504 0.1237 NA NA NA NA 0 C 76,3986 1,74,1956 4 6 5 0.8 0 4 dbSNP_92 5 595,7529 20,555,3487 no utr-5 RASSF6 NM_201431.1 21,629,5443 TT,TC,CC 7.324,1.871,5.5063 74486245 671,11515 2031 4062 6093 SO:0001623 5_prime_UTR_variant AY217664 CCDS3558.1, CCDS3559.1, CCDS58904.1, CCDS58905.1 4q21.1 2008-02-22 2008-02-22 ENSG00000169435 ENSG00000169435 166824 20796 protein-coding gene gene with protein product 612620 NA Standard NM_177532 NM_177532 NA Approved uc003hhd.2 Q6ZTQ3 OTTHUMG00000130007 ENST00000307439.5:c.-275G>A chr4.hg19:g.74486245C>T NA Q68DT2|Q6PDA6|Q86WG9|Q86WH0 hg19 CCDS3559.1 0.02 8.688609 CCCxGAC COVERED NOVEL RASSF6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252278.2 1 14.010639 KEEP 0 2 64 69 2263 CC 1 1 0 - 8 60 296 0 0 18.818219 193 60 6691 329 ENST00000307439.5 0.039801 1 CXCL6 6372 __UNKNOWN__ __UNKNOWN__ 4 74714003 74714003 __UNKNOWN__ Intron SNP A A G rs6815457 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:74714003A>G ENST00000503446.1 + 3 212 P80162 CXCL6_HUMAN chemokine (C-X-C motif) ligand 6 NA NA cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)|inflammatory response (GO:0006954)|signal transduction (GO:0007165) extracellular region (GO:0005576)|extracellular space (GO:0005615) chemokine activity (GO:0008009)|heparin binding (GO:0008201) large_intestine(1)|lung(7) 8 Breast(15;0.00102) all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187) GCCACTAATAAATCACATTTT 0.388 NA G||| 1983 0.395966 0.7216 0.2709 5008 , , NA 21702 0.3353 NA 0.2356 False NA ,,, NA NA NA 2504 0.272 NA NA NA NA 0 G 938,446 328,282,82 203 159 172 -0.9 0 4 dbSNP_116 172 794,2388 101,592,898 no intergenic 429,874,980 GG,GA,AA 24.9529,32.2254,37.9325 74714003 1732,2834 692 1591 2283 SO:0001627 intron_variant U83303 CCDS3560.1 4q13.3 2013-02-25 2012-10-17 2002-08-23 ENSG00000124875 ENSG00000124875 6372 Endogenous ligands 10643 protein-coding gene gene with protein product granulocyte chemotactic protein 2 138965 small inducible cytokine subfamily B (Cys-X-Cys), member 6 (granulocyte chemotactic protein 2), chemokine (C-X-C motif) ligand 6 (granulocyte chemotactic protein 2) SCYB6 NA 9465307 Standard NM_002993 NM_002993 NA Approved GCP-2, CKA-3 uc003hhf.3 P80162 OTTHUMG00000130010 ENST00000503446.1:c.213-450A>G chr4.hg19:g.74714003A>G NA B2R4X3|Q4W5D4 hg19 0.02 14.065442 ATAxATC COVERED NOVEL CXCL6-003 PUTATIVE basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000362452.1 1 8.125377 KEEP 0 0 0 27 885 AA 0.999988 0.999988 0 + 25 60 956 0 0 69.222539 301 60 10883 402 ENST00000503446.1 0.076687 1 PARM1 25849 __UNKNOWN__ __UNKNOWN__ 4 75971289 75971289 __UNKNOWN__ Intron SNP C C G rs3733467 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:75971289C>G ENST00000307428.7 + 4 1060 PARM1_ENST00000513238.1_Intron NM_015393.3 NP_056208.2 Q6UWI2 PARM1_HUMAN prostate androgen-regulated mucin-like protein 1 NA NA positive regulation of telomerase activity (GO:0051973) early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886) cervix(1)|endometrium(2)|lung(4)|ovary(1) 8 CCATAAGCATCCCCAGTTCAG 0.547 NA C||| 837 0.167133 0.4455 0.0865 5008 , , NA 18740 0.0506 NA 0.0895 False NA ,,, NA NA NA 2504 0.0481 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK022311 CCDS47077.1 4q13.3-q21.3 2010-02-17 2009-09-28 ENSG00000169116 ENSG00000169116 25849 24536 protein-coding gene gene with protein product Prostatic androgen-repressed message 1, Castration-induced prostatic apoptosis-related protein 1, WSC4, cell wall integrity and stress response component 4 homolog (S. cerevisiae) NA 10499539, 12772192, 18027867 Standard NM_015393 NM_015393 NA Approved DKFZP564O0823, Cipar1, WSC4 uc003hih.2 Q6UWI2 OTTHUMG00000160827 ENST00000307428.7:c.849-84C>G chr4.hg19:g.75971289C>G NA B3KMQ9|Q96DV8|Q9Y4S1 hg19 CCDS47077.1 0.02 4.396697 CATxCCC COVERED NOVEL PARM1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000362494.1 2 2.407428 KEEP 0 0 0 8 266 CC 0.99257 0.992569 0 + 5 60 190 0 0 12.307875 118 60 4290 132 ENST00000307428.7 0.04065 0.999999 PARM1 25849 __UNKNOWN__ __UNKNOWN__ 4 75971764 75971764 __UNKNOWN__ 3'UTR SNP C C T rs3796683 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:75971764C>T ENST00000307428.7 + 0 1452 PARM1_ENST00000513238.1_3'UTR NM_015393.3 NP_056208.2 Q6UWI2 PARM1_HUMAN prostate androgen-regulated mucin-like protein 1 NA NA positive regulation of telomerase activity (GO:0051973) early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886) cervix(1)|endometrium(2)|lung(4)|ovary(1) 8 TTGAGAAGGACCGAGGAGGAG 0.463 NA C||| 839 0.167532 0.4455 0.0865 5008 , , NA 19060 0.0506 NA 0.0895 False NA ,,, NA NA NA 2504 0.0501 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK022311 CCDS47077.1 4q13.3-q21.3 2010-02-17 2009-09-28 ENSG00000169116 ENSG00000169116 25849 24536 protein-coding gene gene with protein product Prostatic androgen-repressed message 1, Castration-induced prostatic apoptosis-related protein 1, WSC4, cell wall integrity and stress response component 4 homolog (S. cerevisiae) NA 10499539, 12772192, 18027867 Standard NM_015393 NM_015393 NA Approved DKFZP564O0823, Cipar1, WSC4 uc003hih.2 Q6UWI2 OTTHUMG00000160827 ENST00000307428.7:c.*307C>T chr4.hg19:g.75971764C>T NA B3KMQ9|Q96DV8|Q9Y4S1 hg19 CCDS47077.1 0.02 4.003759 GGAxCGA COVERED NOVEL PARM1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000362494.1 1 4.452568 KEEP 0 0 0 15 506 CC 0.99649 0.99649 0 + 6 60 210 0 0 13.022094 139 60 4980 175 ENST00000307428.7 0.041379 1 PARM1 25849 __UNKNOWN__ __UNKNOWN__ 4 75972741 75972741 __UNKNOWN__ 3'UTR SNP A A C rs10015360 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:75972741A>C ENST00000307428.7 + 0 2429 PARM1_ENST00000513238.1_3'UTR NM_015393.3 NP_056208.2 Q6UWI2 PARM1_HUMAN prostate androgen-regulated mucin-like protein 1 NA NA positive regulation of telomerase activity (GO:0051973) early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886) cervix(1)|endometrium(2)|lung(4)|ovary(1) 8 ttgccccctgactccacccca 0.418 NA C||| 835 0.166733 0.4455 0.0865 5008 , , NA 17989 0.0496 NA 0.0885 False NA ,,, NA NA NA 2504 0.0481 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK022311 CCDS47077.1 4q13.3-q21.3 2010-02-17 2009-09-28 ENSG00000169116 ENSG00000169116 25849 24536 protein-coding gene gene with protein product Prostatic androgen-repressed message 1, Castration-induced prostatic apoptosis-related protein 1, WSC4, cell wall integrity and stress response component 4 homolog (S. cerevisiae) NA 10499539, 12772192, 18027867 Standard NM_015393 NM_015393 NA Approved DKFZP564O0823, Cipar1, WSC4 uc003hih.2 Q6UWI2 OTTHUMG00000160827 ENST00000307428.7:c.*1284A>C chr4.hg19:g.75972741A>C NA B3KMQ9|Q96DV8|Q9Y4S1 hg19 CCDS47077.1 0.02 4.299948 CTGxCTC COVERED NOVEL PARM1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000362494.1 0 4.512965 KEEP 0 0 0 15 469 AA 0.99649 0.99649 0 + 5 60 183 0 0 11.436321 128 60 4492 161 ENST00000307428.7 0.037594 1 PARM1 25849 __UNKNOWN__ __UNKNOWN__ 4 75973134 75973134 __UNKNOWN__ 3'UTR SNP A A G rs17000141 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:75973134A>G ENST00000307428.7 + 0 2822 PARM1_ENST00000513238.1_3'UTR NM_015393.3 NP_056208.2 Q6UWI2 PARM1_HUMAN prostate androgen-regulated mucin-like protein 1 NA NA positive regulation of telomerase activity (GO:0051973) early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886) cervix(1)|endometrium(2)|lung(4)|ovary(1) 8 GTAACAGCTGATATTAGCAAG 0.383 NA A||| 677 0.135184 0.3298 0.0778 5008 , , NA 18840 0.0506 NA 0.0885 False NA ,,, NA NA NA 2504 0.0481 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK022311 CCDS47077.1 4q13.3-q21.3 2010-02-17 2009-09-28 ENSG00000169116 ENSG00000169116 25849 24536 protein-coding gene gene with protein product Prostatic androgen-repressed message 1, Castration-induced prostatic apoptosis-related protein 1, WSC4, cell wall integrity and stress response component 4 homolog (S. cerevisiae) NA 10499539, 12772192, 18027867 Standard NM_015393 NM_015393 NA Approved DKFZP564O0823, Cipar1, WSC4 uc003hih.2 Q6UWI2 OTTHUMG00000160827 ENST00000307428.7:c.*1677A>G chr4.hg19:g.75973134A>G NA B3KMQ9|Q96DV8|Q9Y4S1 hg19 CCDS47077.1 0.02 9.493714 CTGxTAT COVERED NOVEL PARM1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000362494.1 3 9.027397 KEEP 0 0 0 30 956 AA 0.999997 0.999997 0 + 10 60 385 0 0 25.548911 213 60 7803 294 ENST00000307428.7 0.044843 1 PARM1 25849 __UNKNOWN__ __UNKNOWN__ 4 75973847 75973847 __UNKNOWN__ 3'UTR SNP C C G rs1043634 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:75973847C>G ENST00000307428.7 + 0 3535 PARM1_ENST00000513238.1_3'UTR NM_015393.3 NP_056208.2 Q6UWI2 PARM1_HUMAN prostate androgen-regulated mucin-like protein 1 NA NA positive regulation of telomerase activity (GO:0051973) early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886) cervix(1)|endometrium(2)|lung(4)|ovary(1) 8 CAGGAACCATCGCCTTCTATA 0.473 NA G||| 677 0.135184 0.3306 0.0778 5008 , , NA 17236 0.0496 NA 0.0885 False NA ,,, NA NA NA 2504 0.0481 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK022311 CCDS47077.1 4q13.3-q21.3 2010-02-17 2009-09-28 ENSG00000169116 ENSG00000169116 25849 24536 protein-coding gene gene with protein product Prostatic androgen-repressed message 1, Castration-induced prostatic apoptosis-related protein 1, WSC4, cell wall integrity and stress response component 4 homolog (S. cerevisiae) NA 10499539, 12772192, 18027867 Standard NM_015393 NM_015393 NA Approved DKFZP564O0823, Cipar1, WSC4 uc003hih.2 Q6UWI2 OTTHUMG00000160827 ENST00000307428.7:c.*2390C>G chr4.hg19:g.75973847C>G NA B3KMQ9|Q96DV8|Q9Y4S1 hg19 CCDS47077.1 0.02 5.262222 CATxGCC COVERED NOVEL PARM1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000362494.1 1 3.310686 KEEP 0 0 0 11 376 CC 0.993072 0.993054 0 + 6 60 222 0 0 15.130632 97 60 3322 129 ENST00000307428.7 0.058252 0.999981 PARM1 25849 __UNKNOWN__ __UNKNOWN__ 4 75974116 75974116 __UNKNOWN__ 3'UTR SNP G G A rs17000150 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:75974116G>A ENST00000307428.7 + 0 3804 PARM1_ENST00000513238.1_3'UTR NM_015393.3 NP_056208.2 Q6UWI2 PARM1_HUMAN prostate androgen-regulated mucin-like protein 1 NA NA positive regulation of telomerase activity (GO:0051973) early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886) cervix(1)|endometrium(2)|lung(4)|ovary(1) 8 GAATTGGGCAGAAGATTTTAG 0.328 NA A||| 677 0.135184 0.3306 0.0778 5008 , , NA 22294 0.0496 NA 0.0885 False NA ,,, NA NA NA 2504 0.0481 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK022311 CCDS47077.1 4q13.3-q21.3 2010-02-17 2009-09-28 ENSG00000169116 ENSG00000169116 25849 24536 protein-coding gene gene with protein product Prostatic androgen-repressed message 1, Castration-induced prostatic apoptosis-related protein 1, WSC4, cell wall integrity and stress response component 4 homolog (S. cerevisiae) NA 10499539, 12772192, 18027867 Standard NM_015393 NM_015393 NA Approved DKFZP564O0823, Cipar1, WSC4 uc003hih.2 Q6UWI2 OTTHUMG00000160827 ENST00000307428.7:c.*2659G>A chr4.hg19:g.75974116G>A NA B3KMQ9|Q96DV8|Q9Y4S1 hg19 CCDS47077.1 0.02 3.809724 GCAxAAG COVERED NOVEL PARM1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000362494.1 2 3.611831 KEEP 0 0 0 12 425 GG 0.993634 0.993633 0 + 6 60 213 0 0 13.547234 127 60 4840 163 ENST00000307428.7 0.045113 1 THAP6 152815 __UNKNOWN__ __UNKNOWN__ 4 76467577 76467577 __UNKNOWN__ Intron SNP A A G rs11722735 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:76467577A>G ENST00000502620.1 + 3 250 THAP6_ENST00000504190.1_Intron|THAP6_ENST00000507557.1_Intron|THAP6_ENST00000507556.1_Intron|THAP6_ENST00000507885.1_Intron Q8TBB0 THAP6_HUMAN THAP domain containing 6 NA NA microtubule cytoskeleton (GO:0015630) DNA binding (GO:0003677)|metal ion binding (GO:0046872) lung(5) 5 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) GCTGATCGCAATTTTCATAAA 0.368 NA A||| 1557 0.310903 0.3578 0.2176 5008 , , NA 21607 0.3423 NA 0.3231 False NA ,,, NA NA NA 2504 0.2689 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC022989 CCDS3568.1 4q21.21 2013-01-25 ENSG00000174796 ENSG00000174796 152815 THAP (C2CH-type zinc finger) domain containing 23189 protein-coding gene gene with protein product 612535 NA 12575992 Standard NM_144721 NM_144721 NA Approved MGC30052 uc003him.3 Q8TBB0 OTTHUMG00000130108 ENST00000502620.1:c.166-42A>G chr4.hg19:g.76467577A>G NA B4E146|Q5HYJ7|Q5JPC6 hg19 0.02 6.917971 GCAxTTT COVERED NOVEL THAP6-013 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000362898.1 2 2.743449 KEEP 0 1 37 22 708 AA 0.999892 0.999892 0 + 9 60 323 0 0 20.689787 190 60 6702 253 ENST00000502620.1 0.045226 1 C4orf26 152816 __UNKNOWN__ __UNKNOWN__ 4 76489345 76489345 __UNKNOWN__ Missense_Mutation SNP C C T rs2306175 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:76489345C>T ENST00000311623.4 + 2 124 c.89C>T c.(88-90)cCt>cTt p.P30L C4orf26_ENST00000435974.2_Missense_Mutation_p.L45F NM_001257072.1|NM_178497.3 NP_001244001.1|NP_848592.2 Q17RF5 CD026_HUMAN chromosome 4 open reading frame 26 30 NA P -> L (in dbSNP:rs2306175). {ECO:0000269|PubMed:14702039}. extracellular region (GO:0005576) p.P30L(1) kidney(1)|large_intestine(4)|stomach(1) 6 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) GTATTTACGCCTCCTGGAGAT 0.542 NA C||| 1220 0.24361 0.3238 0.1715 5008 , , NA 18003 0.244 NA 0.2276 False NA ,,, NA NA NA 2504 0.2025 NA NA NA NA 1 Substitution - Missense(1) stomach(1) C PHE/LEU,LEU/PRO 1354,3052 450.0+/-349.2 201,952,1050 69 73 72 133,89 2.8 0.3 4 dbSNP_100 72 2014,6586 351.0+/-328.1 261,1492,2547 yes missense,missense C4orf26 NM_001206981.1,NM_178497.3 22,98 462,2444,3597 TT,TC,CC 23.4186,30.7308,25.8957 possibly-damaging,possibly-damaging 45/177,30/131 76489345 3368,9638 2203 4300 6503 SO:0001583 missense AK074237 CCDS3569.1, CCDS56334.1, CCDS75142.1 4q21.1 2012-10-31 ENSG00000174792 ENSG00000174792 152816 26300 protein-coding gene gene with protein product 614829 NA 22901946 Standard NM_178497 NM_001206981 NA Approved FLJ23657 uc011cbo.2 Q17RF5 OTTHUMG00000130104 ENST00000311623.4:c.89C>T chr4.hg19:g.76489345C>T ENSP00000311307:p.Pro30Leu NA B4DTI3|E7ETQ0|Q8TEC3 hg19 CCDS3569.1 0.02 18.893128 CGCxTCC COVERED 567|567 0.25961538461538464|0.25961538461538464 184|184 0.37398373983739835|0.37398373983739835 65|65 0.17955801104972377|0.17955801104972377 145|145 0.2534965034965035|0.2534965034965035 173|173 0.22823218997361477|0.22823218997361477 C|C 14.06|14.06 2.423024|2.423024 0.43020|0.43020 0.307308|0.307308 0.234186|0.234186 ENSG00000174792|ENSG00000174792 ENST00000435974|ENST00000311623 T|T 0.60424|0.64618 0.19|-0.11 4.6|4.6 2.84|2.84 0.33178|0.33178 .|. .|0.145749 .|0.32120 .|N .|0.006545 T|T 0.00012|0.00012 0.0000|0.0000 L|L 0.29908|0.29908 0.895|0.895 0.48185|0.48185 P|P 3.950000000000342E-4|3.950000000000342E-4 P|P 0.50943|0.35107 0.94|0.484 P|B 0.47015|0.35655 0.534|0.207 T|T 0.37103|0.37103 -0.9720|-0.9720 8|9 0.87932|0.33940 D|T 0|0.23 .|. 6.3991|6.3991 0.21628|0.21628 0.0:0.7141:0.1857:0.1002|0.0:0.7141:0.1857:0.1002 rs2306175;rs52816760;rs61113264;rs2306175|rs2306175;rs52816760;rs61113264;rs2306175 45|30 E7ETQ0|Q17RF5 .|CD026_HUMAN F|L 45|30 ENSP00000406925:L45F|ENSP00000311307:P30L ENSP00000406925:L45F|ENSP00000311307:P30L L|P +|+ 1|2 0|0 C4orf26|C4orf26 76708369|76708369 0.182000|0.182000 0.23173|0.23173 0.304000|0.304000 0.25085|0.25085 0.213000|0.213000 0.24496|0.24496 1.953000|1.953000 0.40352|0.40352 0.663000|0.663000 0.31027|0.31027 0.551000|0.551000 0.68910|0.68910 CTC|CCT NOVEL C4orf26-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252410.1 1 22.568455 KEEP 0 0 0 75 2639 CC 1 1 0 + 13 60 464 0 0 26.99146 442 60 16059 642 ENST00000311623.4 0.028571 1 CDKL2 8999 __UNKNOWN__ __UNKNOWN__ 4 76530804 76530804 __UNKNOWN__ Nonsense_Mutation SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:76530804C>T ENST00000307465.4 - 5 1070 c.557G>A c.(556-558)tGg>tAg p.W186* CDKL2_ENST00000429927.2_Nonsense_Mutation_p.W186* Q92772 CDKL2_HUMAN cyclin-dependent kinase-like 2 (CDC2-related kinase) 186 Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}. NA sex differentiation (GO:0007548)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|nucleus (GO:0005634) ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672) breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2) 22 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) ACCAATGGCCCACACATCAAC 0.413 NA NA NA NA NA NA NA NA NA NA NA 0 83 83 83 NA NA 4 NA 76530804 2203 4300 6503 SO:0001587 stop_gained U35146 CCDS3570.1 4q21.21 2011-11-04 ENSG00000138769 ENSG00000138769 8999 Cyclin-dependent kinases 1782 protein-coding gene gene with protein product 603442 NA 9000130 Standard NM_003948 NM_003948 NA Approved P56, KKIAMRE uc003hiq.3 Q92772 OTTHUMG00000130103 ENST00000307465.4:c.557G>A chr4.hg19:g.76530804C>T ENSP00000306340:p.Trp186* NA B2R695 hg19 0.02 19.863372 GCCxACA COVERED . . . . . . . . . . C 43 10.132999 0.99344 . . ENSG00000138769 ENST00000429927;ENST00000307465 . . . 5.35 5.35 0.76521 . . . . . . . . . . . 0.80722 A 1 . . . . . . . . . . 0.02654 T 1 -9.7261 18.0047 0.89207 0.0:1.0:0.0:0.0 . . . . X 186 . ENSP00000306340:W186X W - 2 0 CDKL2 76749828 1.000000 0.71417 1.000000 0.80357 0.986000 0.74619 6.288000 0.72679 2.782000 0.95742 0.563000 0.77884 TGG NOVEL CDKL2-002 NOVEL basic|appris_candidate_longest|exp_conf protein_coding NA protein_coding OTTHUMT00000362891.1 2 15.049026 KEEP 0 0 0 50 1784 CC 1 1 0 - 17 60 628 0 0 38.98507 465 60 17652 662 ENST00000307465.4 0.03527 1 G3BP2 9908 __UNKNOWN__ __UNKNOWN__ 4 76571732 76571732 __UNKNOWN__ Intron SNP C C T rs884871 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:76571732C>T ENST00000359707.4 - 11 1843 G3BP2_ENST00000395719.3_Intron|G3BP2_ENST00000357854.3_Intron NM_203505.2 NP_987101.1 Q9UN86 G3BP2_HUMAN GTPase activating protein (SH3 domain) binding protein 2 NA NA cytoplasmic sequestering of NF-kappaB (GO:0007253)|mRNA transport (GO:0051028)|Ras protein signal transduction (GO:0007265) cytoplasm (GO:0005737) nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|receptor signaling complex scaffold activity (GO:0030159) breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 27 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) GTTATCTCCCCGATCCATTTT 0.383 NA C||| 1457 0.290935 0.5265 0.2781 5008 , , NA 17842 0.0685 NA 0.3757 False NA ,,, NA NA NA 2504 0.1237 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB014560 CCDS3571.1, CCDS3572.1 4q21.1 2013-02-12 2006-11-01 ENSG00000138757 ENSG00000138757 9908 RNA binding motif (RRM) containing 30291 protein-coding gene gene with protein product Ras-GTPase activating protein SH3 domain-binding protein 2 NA 9734811, 9575347 Standard NM_012297 NM_203504 NA Approved KIAA0660 uc003his.3 Q9UN86 OTTHUMG00000130097 ENST00000359707.4:c.1058-92G>A chr4.hg19:g.76571732C>T NA A8K6X1|O60606|O75149|Q9UPA1 hg19 CCDS3571.1 0.02 1.92158 CCCxGAT COVERED NOVEL G3BP2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000252399.2 0 2.707775 KEEP 0 0 0 9 281 CC 0.99254 0.991245 0 - 6 60 219 0 0 15.650153 70 60 2250 86 ENST00000359707.4 0.078947 0.998696 G3BP2 9908 __UNKNOWN__ __UNKNOWN__ 4 76580894 76580894 __UNKNOWN__ Intron SNP G G A rs17000733 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:76580894G>A ENST00000359707.4 - 6 1331 G3BP2_ENST00000395719.3_Intron|G3BP2_ENST00000357854.3_Intron NM_203505.2 NP_987101.1 Q9UN86 G3BP2_HUMAN GTPase activating protein (SH3 domain) binding protein 2 NA NA cytoplasmic sequestering of NF-kappaB (GO:0007253)|mRNA transport (GO:0051028)|Ras protein signal transduction (GO:0007265) cytoplasm (GO:0005737) nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|receptor signaling complex scaffold activity (GO:0030159) breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 27 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) TCTAGGAACAGAAACCACCTT 0.338 NA A||| 1461 0.291733 0.528 0.2781 5008 , , NA 18376 0.0685 NA 0.3777 False NA ,,, NA NA NA 2504 0.1237 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB014560 CCDS3571.1, CCDS3572.1 4q21.1 2013-02-12 2006-11-01 ENSG00000138757 ENSG00000138757 9908 RNA binding motif (RRM) containing 30291 protein-coding gene gene with protein product Ras-GTPase activating protein SH3 domain-binding protein 2 NA 9734811, 9575347 Standard NM_012297 NM_203504 NA Approved KIAA0660 uc003his.3 Q9UN86 OTTHUMG00000130097 ENST00000359707.4:c.545+57C>T chr4.hg19:g.76580894G>A NA A8K6X1|O60606|O75149|Q9UPA1 hg19 CCDS3571.1 0.02 5.574836 ACAxAAA COVERED NOVEL G3BP2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000252399.2 1 6.455221 KEEP 0 1 30 32 1126 GG 0.999998 0.999998 0 - 8 60 276 0 0 17.436331 161 60 6168 224 ENST00000359707.4 0.047337 1 PPEF2 5470 __UNKNOWN__ __UNKNOWN__ 4 76817420 76817420 __UNKNOWN__ Intron SNP G G A rs117112041 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:76817420G>A ENST00000286719.7 - 2 412 PPEF2_ENST00000510607.1_Intron NM_006239.2 NP_006230.2 O14830 PPE2_HUMAN protein phosphatase, EF-hand calcium binding domain 2 NA NA detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601) cilium (GO:0005929)|cytoplasm (GO:0005737) calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) TGGGAAACACGTACCTCTCTC 0.502 NA OREG0016229 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) G||| 12 0.00239617 0.0 0.0 5008 , , NA 20195 0.0119 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NSCLC(105;1359 1603 15961 44567 47947) NA 0 207 177 187 NA NA 4 NA 76817420 2203 4300 6503 SO:0001627 intron_variant AF023456 CCDS34013.1 4q21.1 2013-01-10 ENSG00000156194 ENSG00000156194 5470 Serine/threonine phosphatases / Protein phosphatase, catalytic subunits, EF-hand domain containing 9244 protein-coding gene gene with protein product protein phosphatase 7, catalytic subunit, beta isozyme 602256 NA 9326663, 12051765 Standard NM_006239 NM_006239 NA Approved PPP7CB uc003hix.3 O14830 OTTHUMG00000160915 ENST00000286719.7:c.55+3C>T chr4.hg19:g.76817420G>A 1171 O14831 hg19 CCDS34013.1 0.02 8.530908 CACxTAC COVERED NOVEL PPEF2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000362929.1 3 9.027487 KEEP 0 0 0 30 1004 GG 0.999997 0.999997 0 - 10 60 365 0 0 23.634306 209 60 6945 286 ENST00000286719.7 0.045662 1 SDAD1 55153 __UNKNOWN__ __UNKNOWN__ 4 76871183 76871183 __UNKNOWN__ 3'UTR SNP A A G rs7154 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:76871183A>G ENST00000356260.5 - 0 2902 NM_018115.2 NP_060585.2 Q9NVU7 SDA1_HUMAN SDA1 domain containing 1 NA NA actin cytoskeleton organization (GO:0030036)|protein transport (GO:0015031)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal large subunit export from nucleus (GO:0000055) nucleolus (GO:0005730) breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 19 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) TGAACTAAATATATTCCAAAG 0.338 NA A||| 1392 0.277955 0.1044 0.2709 5008 , , NA 16268 0.5228 NA 0.2386 False NA ,,, NA NA NA 2504 0.3057 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF132198 CCDS3573.2, CCDS75147.1 4q21.21 2010-11-24 ENSG00000198301 ENSG00000198301 55153 25537 protein-coding gene gene with protein product NA 11483580 Standard NM_018115 NM_001288984 NA Approved FLJ10498 uc003hje.4 Q9NVU7 OTTHUMG00000130111 ENST00000356260.5:c.*720T>C chr4.hg19:g.76871183A>G NA Q32Q11|Q68D52|Q7Z5U4|Q9H831|Q9H9P6 hg19 CCDS3573.2 0.02 18.030085 AATxTAT COVERED NOVEL SDAD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252418.3 10 23.164199 KEEP 0 0 0 77 2343 AA 1 1 0 - 16 60 555 0 0 33.792754 414 60 15227 626 ENST00000356260.5 0.037209 1 SDAD1 55153 __UNKNOWN__ __UNKNOWN__ 4 76885423 76885423 __UNKNOWN__ Intron SNP T T C rs2271527 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:76885423T>C ENST00000356260.5 - 14 1223 SDAD1_ENST00000395711.4_Intron|SDAD1_ENST00000513089.1_Intron NM_018115.2 NP_060585.2 Q9NVU7 SDA1_HUMAN SDA1 domain containing 1 NA NA actin cytoskeleton organization (GO:0030036)|protein transport (GO:0015031)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal large subunit export from nucleus (GO:0000055) nucleolus (GO:0005730) breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 19 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) CACAAACACATAAGAATGAAA 0.338 NA T||| 1364 0.272364 0.1029 0.268 5008 , , NA 17085 0.506 NA 0.2376 False NA ,,, NA NA NA 2504 0.2996 NA NA NA NA 0 T 163,1221 8,147,537 104 86 92 -0.2 0 4 dbSNP_100 92 799,2383 97,605,889 no intron SDAD1 NM_018115.2 105,752,1426 CC,CT,TT 25.11,11.7775,21.0688 76885423 962,3604 692 1591 2283 SO:0001627 intron_variant AF132198 CCDS3573.2, CCDS75147.1 4q21.21 2010-11-24 ENSG00000198301 ENSG00000198301 55153 25537 protein-coding gene gene with protein product NA 11483580 Standard NM_018115 NM_001288984 NA Approved FLJ10498 uc003hje.4 Q9NVU7 OTTHUMG00000130111 ENST00000356260.5:c.1105-59A>G chr4.hg19:g.76885423T>C NA Q32Q11|Q68D52|Q7Z5U4|Q9H831|Q9H9P6 hg19 CCDS3573.2 0.02 4.930692 ACAxAAG COVERED NOVEL SDAD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252418.3 0 6.746998 KEEP 0 1 33 34 1061 TT 0.999999 0.999997 0 - 8 60 310 0 0 22.084554 111 60 4115 211 ENST00000356260.5 0.067227 0.999998 SDAD1 55153 __UNKNOWN__ __UNKNOWN__ 4 76888235 76888235 __UNKNOWN__ Intron SNP A A G rs12648437 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:76888235A>G ENST00000356260.5 - 12 1164 SDAD1_ENST00000395711.4_Intron|SDAD1_ENST00000513089.1_Intron NM_018115.2 NP_060585.2 Q9NVU7 SDA1_HUMAN SDA1 domain containing 1 NA NA actin cytoskeleton organization (GO:0030036)|protein transport (GO:0015031)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal large subunit export from nucleus (GO:0000055) nucleolus (GO:0005730) breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 19 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) TGTTGTTTTAAAAAAACAATA 0.448 NA A||| 1285 0.256589 0.0477 0.2594 5008 , , NA 18307 0.506 NA 0.2376 False NA ,,, NA NA NA 2504 0.2996 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF132198 CCDS3573.2, CCDS75147.1 4q21.21 2010-11-24 ENSG00000198301 ENSG00000198301 55153 25537 protein-coding gene gene with protein product NA 11483580 Standard NM_018115 NM_001288984 NA Approved FLJ10498 uc003hje.4 Q9NVU7 OTTHUMG00000130111 ENST00000356260.5:c.1045+194T>C chr4.hg19:g.76888235A>G NA Q32Q11|Q68D52|Q7Z5U4|Q9H831|Q9H9P6 hg19 CCDS3573.2 0.02 2.396727 TTAxAAA COVERED NOVEL SDAD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252418.3 3 3.009024 KEEP 0 0 0 10 313 AA 0.992708 0.972383 0 - 4 60 152 0 0 10.853713 52 60 1786 67 ENST00000356260.5 0.071429 0.979526 CXCL9 4283 __UNKNOWN__ __UNKNOWN__ 4 76922759 76922759 __UNKNOWN__ 3'UTR SNP G G A rs10337 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:76922759G>A ENST00000264888.5 - 0 2408 RP11-630D6.5_ENST00000501239.2_RNA NM_002416.1 NP_002407.1 Q07325 CXCL9_HUMAN chemokine (C-X-C motif) ligand 9 NA NA cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)|defense response (GO:0006952)|defense response to virus (GO:0051607)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|regulation of cell proliferation (GO:0042127)|signal transduction (GO:0007165) external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615) chemokine activity (GO:0008009)|CXCR3 chemokine receptor binding (GO:0048248)|cytokine activity (GO:0005125) large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(1) 11 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) GTATATATATGATAAATGATT 0.308 NA G||| 1321 0.263778 0.1422 0.245 5008 , , NA 18169 0.5099 NA 0.1769 False NA ,,, NA NA NA 2504 0.2771 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X72755 CCDS34014.1 4q21 2013-02-25 2002-08-22 2002-08-23 ENSG00000138755 4283 Endogenous ligands 7098 protein-coding gene gene with protein product 601704 monokine induced by gamma interferon CMK, MIG NA 8476424, 9730616 Standard NM_002416 NA Approved SCYB9, Humig, crg-10 uc003hjh.1 Q07325 ENST00000264888.5:c.*1992C>T chr4.hg19:g.76922759G>A NA Q503B4 hg19 CCDS34014.1 0.02 10.269051 TATxATA COVERED NOVEL CXCL9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000362819.1 1 6.922767 KEEP 0 0 0 23 825 GG 0.999892 0.999892 0 - 12 60 431 0 0 27.736701 247 60 9452 344 ENST00000264888.5 0.046332 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 76928729 76928729 __UNKNOWN__ IGR SNP A A G rs2276885 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:76928729A>G NA NA CXCL9 (88 upstream) : ART3 (3623 downstream) NA NA NA CTGATTGGCTAGTATCTTTAG 0.368 NA A||| 1151 0.229832 0.0507 0.2262 5008 , , NA 19353 0.4762 NA 0.175 False NA ,,, NA NA NA 2504 0.2771 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.76928729A>G NA hg19 0.02 7.050625 GCTxGTA COVERED NOVEL 0 0 3.910621 KEEP 0 0 0 13 387 AA 0.994391 0.994391 0 13 60 468 0 0 33.390041 148 60 5463 174 0.080745 1 CXCL11 6373 __UNKNOWN__ __UNKNOWN__ 4 76957043 76957043 __UNKNOWN__ Intron SNP G G A rs6817952 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:76957043G>A ENST00000503860.1 - 2 440 ART3_ENST00000341029.5_Intron|CXCL11_ENST00000306621.3_Intron O14625 CXL11_HUMAN chemokine (C-X-C motif) ligand 11 NA NA cell-cell signaling (GO:0007267)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|regulation of cell proliferation (GO:0042127)|signal transduction (GO:0007165)|T cell chemotaxis (GO:0010818) extracellular region (GO:0005576)|extracellular space (GO:0005615) chemokine activity (GO:0008009)|CXCR3 chemokine receptor binding (GO:0048248)|heparin binding (GO:0008201) kidney(1)|large_intestine(3)|lung(1)|skin(1) 6 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) CATTAGAAAAGGAACTTATAG 0.333 NA G||| 805 0.160743 0.0393 0.1412 5008 , , NA 19772 0.3958 NA 0.1352 False NA ,,, NA NA NA 2504 0.1227 NA NA NA Pancreas(31;57 931 1690 18027 37686) NA 0 G , 206,4200 11,184,2008 88 81 83 , 1.5 0 4 dbSNP_116 83 1167,7433 108,951,3241 no intron,intron ART3,CXCL11 NM_001130017.1,NM_005409.4 , 119,1135,5249 AA,AG,GG 13.5698,4.6754,10.5567 , , 76957043 1373,11633 2203 4300 6503 SO:0001627 intron_variant U66096 CCDS3574.1 4q21 2013-02-25 2002-08-22 2002-08-23 ENSG00000169248 ENSG00000169248 6373 Endogenous ligands 10638 protein-coding gene gene with protein product 604852 small inducible cytokine subfamily B (Cys-X-Cys), member 11 SCYB9B, SCYB11 NA 9730616 Standard NM_005409 NA Approved H174, b-R1, I-TAC, IP-9 uc003hjm.3 O14625 OTTHUMG00000130101 ENST00000503860.1:c.61+36C>T chr4.hg19:g.76957043G>A NA Q53YA3|Q92840 hg19 CCDS3574.1 0.02 6.452555 AAAxGAA COVERED NOVEL CXCL11-003 PUTATIVE alternative_5_UTR|basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000362816.1 2 5.417384 KEEP 0 0 0 18 625 GG 0.999859 0.999859 0 - 11 60 396 0 0 26.48151 184 60 6868 237 ENST00000503860.1 0.05641 1 ART3 419 __UNKNOWN__ __UNKNOWN__ 4 77033721 77033721 __UNKNOWN__ 3'UTR SNP G G A rs62318929 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:77033721G>A ENST00000355810.4 + 0 1338 ART3_ENST00000349321.3_3'UTR|ART3_ENST00000341029.5_3'UTR NM_001130016.2 NP_001123488.1 Q13508 NAR3_HUMAN ADP-ribosyltransferase 3 NA NA protein ADP-ribosylation (GO:0006471) anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887) NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950) autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1) 16 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) ATAACTATAGGGATCCACAGG 0.308 NA G||| 776 0.154952 0.0567 0.1282 5008 , , NA 19217 0.3512 NA 0.1312 False NA ,,, NA NA NA 2504 0.1288 NA NA NA NA 0 G ,, 307,4099 155.2+/-188.4 15,277,1911 106 97 100 ,, 3.1 0.3 4 dbSNP_129 100 1294,7306 243.9+/-273.3 101,1092,3107 no utr-3,utr-3,utr-3 ART3 NM_001130016.1,NM_001130017.1,NM_001179.4 ,, 116,1369,5018 AA,AG,GG 15.0465,6.9678,12.3097 ,, ,, 77033721 1601,11405 2203 4300 6503 SO:0001624 3_prime_UTR_variant X95827 CCDS3575.1, CCDS47079.1, CCDS47080.1 4q21.1 2008-05-15 ENSG00000156219 ENSG00000156219 419 725 protein-coding gene gene with protein product 603086 NA 9119374 Standard NM_001179 NM_001130017 NA Approved uc003hjo.3 Q13508 OTTHUMG00000130110 ENST00000355810.4:c.*49G>A chr4.hg19:g.77033721G>A NA Q53XW3|Q6FHT7|Q8WVJ7|Q93069|Q96HL1 hg19 CCDS47079.1 0.02 9.143549 TAGxGAT COVERED NOVEL ART3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000252416.2 2 3.310535 KEEP 0 0 0 11 368 GG 0.993072 0.993072 0 + 18 60 657 0 0 47.814112 187 60 6677 221 ENST00000355810.4 0.087805 1 NUP54 53371 __UNKNOWN__ __UNKNOWN__ 4 77035895 77035895 __UNKNOWN__ 3'UTR SNP T T A rs10654 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:77035895T>A ENST00000264883.3 - 0 2288 NUP54_ENST00000342467.6_3'UTR NM_017426.2 NP_059122.2 Q7Z3B4 NUP54_HUMAN nucleoporin 54kDa NA NA carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein targeting (GO:0006605)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032) cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654) nucleocytoplasmic transporter activity (GO:0005487) cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1) 19 AACAAAATGGTTGCAAAAATG 0.219 NA T||| 776 0.154952 0.0567 0.1282 5008 , , NA 14601 0.3512 NA 0.1312 False NA ,,, NA NA NA 2504 0.1288 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF157322 CCDS3576.1, CCDS63998.1 4q21.1 2008-07-03 2002-08-29 ENSG00000138750 ENSG00000138750 53371 17359 protein-coding gene gene with protein product 607607 nucleoporin 54kD NA 8707840 Standard NM_017426 NA Approved uc003hjs.3 Q7Z3B4 OTTHUMG00000130098 ENST00000264883.3:c.*624A>T chr4.hg19:g.77035895T>A NA B2RCK7|B4DT35|Q96EA7|Q9NVL5|Q9P0I1 hg19 CCDS3576.1 0.02 2.138416 TGGxTGC COVERED NOVEL NUP54-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252402.3 1 10.229577 KEEP 0 0 0 34 1087 TT 0.999998 0.998199 0 - 4 60 154 0 0 10.576213 69 60 2462 139 ENST00000264883.3 0.054795 0.9982 NUP54 53371 __UNKNOWN__ __UNKNOWN__ 4 77035914 77035914 __UNKNOWN__ 3'UTR SNP G G A rs9652 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:77035914G>A ENST00000264883.3 - 0 2269 NUP54_ENST00000342467.6_3'UTR NM_017426.2 NP_059122.2 Q7Z3B4 NUP54_HUMAN nucleoporin 54kDa NA NA carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein targeting (GO:0006605)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032) cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654) nucleocytoplasmic transporter activity (GO:0005487) cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1) 19 TGGTTAAGTAGTTTTGTTATA 0.204 NA A||| 776 0.154952 0.0567 0.1282 5008 , , NA 14375 0.3512 NA 0.1312 False NA ,,, NA NA NA 2504 0.1288 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF157322 CCDS3576.1, CCDS63998.1 4q21.1 2008-07-03 2002-08-29 ENSG00000138750 ENSG00000138750 53371 17359 protein-coding gene gene with protein product 607607 nucleoporin 54kD NA 8707840 Standard NM_017426 NA Approved uc003hjs.3 Q7Z3B4 OTTHUMG00000130098 ENST00000264883.3:c.*605C>T chr4.hg19:g.77035914G>A NA B2RCK7|B4DT35|Q96EA7|Q9NVL5|Q9P0I1 hg19 CCDS3576.1 0.02 2.059397 GTAxTTT COVERED NOVEL NUP54-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252402.3 1 10.229622 KEEP 0 0 0 34 1210 GG 0.999998 0.999486 0 - 5 60 184 0 0 12.610852 77 60 2962 160 ENST00000264883.3 0.060976 0.999487 NUP54 53371 __UNKNOWN__ __UNKNOWN__ 4 77036369 77036369 __UNKNOWN__ 3'UTR SNP G G A rs1127695 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:77036369G>A ENST00000514987.1 - 0 1552 NUP54_ENST00000264883.3_3'UTR|NUP54_ENST00000342467.6_3'UTR Q7Z3B4 NUP54_HUMAN nucleoporin 54kDa NA NA carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein targeting (GO:0006605)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032) cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654) nucleocytoplasmic transporter activity (GO:0005487) cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1) 19 CAGATTTGATGAACAGTAATT 0.323 NA G||| 776 0.154952 0.0567 0.1282 5008 , , NA 18941 0.3512 NA 0.1312 False NA ,,, NA NA NA 2504 0.1288 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF157322 CCDS3576.1, CCDS63998.1 4q21.1 2008-07-03 2002-08-29 ENSG00000138750 ENSG00000138750 53371 17359 protein-coding gene gene with protein product 607607 nucleoporin 54kD NA 8707840 Standard NM_017426 NA Approved uc003hjs.3 Q7Z3B4 OTTHUMG00000130098 ENST00000514987.1:c.*150C>T chr4.hg19:g.77036369G>A NA B2RCK7|B4DT35|Q96EA7|Q9NVL5|Q9P0I1 hg19 0.02 8.588855 GATxAAC COVERED NOVEL NUP54-004 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000362699.1 3 3.912197 KEEP 0 0 0 13 432 GG 0.994391 0.994391 0 - 16 60 564 0 0 39.829082 184 60 6903 217 ENST00000514987.1 0.08 1 NUP54 53371 __UNKNOWN__ __UNKNOWN__ 4 77036406 77036406 __UNKNOWN__ 3'UTR SNP T T G rs17001433 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:77036406T>G ENST00000514987.1 - 0 1515 NUP54_ENST00000264883.3_3'UTR|NUP54_ENST00000342467.6_3'UTR Q7Z3B4 NUP54_HUMAN nucleoporin 54kDa NA NA carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein targeting (GO:0006605)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032) cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654) nucleocytoplasmic transporter activity (GO:0005487) cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1) 19 AAAAAACCAATCCAAGAAAGA 0.338 NA G||| 776 0.154952 0.0567 0.1282 5008 , , NA 19469 0.3512 NA 0.1312 False NA ,,, NA NA NA 2504 0.1288 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF157322 CCDS3576.1, CCDS63998.1 4q21.1 2008-07-03 2002-08-29 ENSG00000138750 ENSG00000138750 53371 17359 protein-coding gene gene with protein product 607607 nucleoporin 54kD NA 8707840 Standard NM_017426 NA Approved uc003hjs.3 Q7Z3B4 OTTHUMG00000130098 ENST00000514987.1:c.*113A>C chr4.hg19:g.77036406T>G NA B2RCK7|B4DT35|Q96EA7|Q9NVL5|Q9P0I1 hg19 0.02 12.118872 CAAxCCA COVERED NOVEL NUP54-004 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000362699.1 2 6.903221 KEEP 0 0 0 23 666 TT 0.999892 0.999892 0 - 18 60 694 0 0 49.834716 234 60 8606 313 ENST00000514987.1 0.071429 1 NUP54 53371 __UNKNOWN__ __UNKNOWN__ 4 77038807 77038807 __UNKNOWN__ Intron SNP C C T rs7657846 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:77038807C>T ENST00000514987.1 - 10 1274 NUP54_ENST00000458189.2_Intron|NUP54_ENST00000264883.3_Intron|NUP54_ENST00000342467.6_Intron Q7Z3B4 NUP54_HUMAN nucleoporin 54kDa NA NA carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein targeting (GO:0006605)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032) cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654) nucleocytoplasmic transporter activity (GO:0005487) cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1) 19 CAGCCTCATGCAACACTTACC 0.383 NA c||| 776 0.154952 0.0567 0.1282 5008 , , NA 20392 0.3512 NA 0.1312 False NA ,,, NA NA NA 2504 0.1288 NA NA NA NA 0 T 307,4099 165.8+/-197.2 15,277,1911 100 90 94 -9.8 0 4 dbSNP_116 94 1298,7302 257.3+/-281.4 101,1096,3103 no intron NUP54 NM_017426.2 116,1373,5014 TT,TC,CC 15.093,6.9678,12.3405 77038807 1605,11401 2203 4300 6503 SO:0001627 intron_variant AF157322 CCDS3576.1, CCDS63998.1 4q21.1 2008-07-03 2002-08-29 ENSG00000138750 ENSG00000138750 53371 17359 protein-coding gene gene with protein product 607607 nucleoporin 54kD NA 8707840 Standard NM_017426 NA Approved uc003hjs.3 Q7Z3B4 OTTHUMG00000130098 ENST00000514987.1:c.1251+9G>A chr4.hg19:g.77038807C>T NA B2RCK7|B4DT35|Q96EA7|Q9NVL5|Q9P0I1 hg19 0.02 12.367133 ATGxAAC COVERED NOVEL NUP54-004 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000362699.1 0 15.349158 KEEP 0 0 0 51 1829 CC 1 1 0 - 13 60 470 0 0 29.691714 302 60 11239 436 ENST00000514987.1 0.04127 1 NUP54 53371 __UNKNOWN__ __UNKNOWN__ 4 77038974 77038974 __UNKNOWN__ Intron SNP T T A rs6532201 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:77038974T>A ENST00000514987.1 - 10 1163 NUP54_ENST00000458189.2_Intron|NUP54_ENST00000264883.3_Intron|NUP54_ENST00000342467.6_Intron Q7Z3B4 NUP54_HUMAN nucleoporin 54kDa NA NA carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein targeting (GO:0006605)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032) cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654) nucleocytoplasmic transporter activity (GO:0005487) cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1) 19 CGAAGACTTGTAAAAGACAAT 0.343 NA T||| 776 0.154952 0.0567 0.1282 5008 , , NA 20355 0.3512 NA 0.1312 False NA ,,, NA NA NA 2504 0.1288 NA NA NA NA 0 T 307,4099 154.8+/-188.1 15,277,1911 44 41 42 3.2 0 4 dbSNP_116 42 1294,7304 246.1+/-274.7 102,1090,3107 no intron NUP54 NM_017426.2 117,1367,5018 AA,AT,TT 15.05,6.9678,12.3116 77038974 1601,11403 2203 4299 6502 SO:0001627 intron_variant AF157322 CCDS3576.1, CCDS63998.1 4q21.1 2008-07-03 2002-08-29 ENSG00000138750 ENSG00000138750 53371 17359 protein-coding gene gene with protein product 607607 nucleoporin 54kD NA 8707840 Standard NM_017426 NA Approved uc003hjs.3 Q7Z3B4 OTTHUMG00000130098 ENST00000514987.1:c.1141-47A>T chr4.hg19:g.77038974T>A NA B2RCK7|B4DT35|Q96EA7|Q9NVL5|Q9P0I1 hg19 0.02 8.027545 TTGxAAA COVERED NOVEL NUP54-004 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000362699.1 1 9.025002 KEEP 0 0 0 30 911 TT 0.999997 0.999997 0 - 13 60 458 0 0 30.28572 218 60 7657 279 ENST00000514987.1 0.056277 1 NUP54 53371 __UNKNOWN__ __UNKNOWN__ 4 77039174 77039174 __UNKNOWN__ Intron SNP G G C rs6813732 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:77039174G>C ENST00000514987.1 - 9 1163 NUP54_ENST00000458189.2_Intron|NUP54_ENST00000264883.3_Intron|NUP54_ENST00000342467.6_Intron Q7Z3B4 NUP54_HUMAN nucleoporin 54kDa NA NA carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein targeting (GO:0006605)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032) cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654) nucleocytoplasmic transporter activity (GO:0005487) cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1) 19 ATAACTTTTTGTCTGCAGATC 0.353 NA G||| 789 0.157548 0.0567 0.1282 5008 , , NA 19459 0.3641 NA 0.1312 False NA ,,, NA NA NA 2504 0.1288 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF157322 CCDS3576.1, CCDS63998.1 4q21.1 2008-07-03 2002-08-29 ENSG00000138750 ENSG00000138750 53371 17359 protein-coding gene gene with protein product 607607 nucleoporin 54kD NA 8707840 Standard NM_017426 NA Approved uc003hjs.3 Q7Z3B4 OTTHUMG00000130098 ENST00000514987.1:c.1140+53C>G chr4.hg19:g.77039174G>C NA B2RCK7|B4DT35|Q96EA7|Q9NVL5|Q9P0I1 hg19 0.02 13.91318 TTTxTCT COVERED NOVEL NUP54-004 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000362699.1 4 17.155242 KEEP 0 0 0 57 2009 GG 1 1 0 - 19 60 720 0 0 49.483027 312 60 11768 473 ENST00000514987.1 0.057402 1 NUP54 53371 __UNKNOWN__ __UNKNOWN__ 4 77039193 77039193 __UNKNOWN__ Intron SNP A A T rs6840007 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:77039193A>T ENST00000514987.1 - 9 1163 NUP54_ENST00000458189.2_Intron|NUP54_ENST00000264883.3_Intron|NUP54_ENST00000342467.6_Intron Q7Z3B4 NUP54_HUMAN nucleoporin 54kDa NA NA carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein targeting (GO:0006605)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032) cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654) nucleocytoplasmic transporter activity (GO:0005487) cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1) 19 TCCACCTGAAACAAATTTTAG 0.363 NA A||| 776 0.154952 0.0567 0.1282 5008 , , NA 19253 0.3512 NA 0.1312 False NA ,,, NA NA NA 2504 0.1288 NA NA NA NA 0 A 308,4098 165.8+/-197.2 15,278,1910 105 105 105 -1.4 0 4 dbSNP_116 105 1297,7303 256.9+/-281.2 101,1095,3104 no intron NUP54 NM_017426.2 116,1373,5014 TT,TA,AA 15.0814,6.9905,12.3405 77039193 1605,11401 2203 4300 6503 SO:0001627 intron_variant AF157322 CCDS3576.1, CCDS63998.1 4q21.1 2008-07-03 2002-08-29 ENSG00000138750 ENSG00000138750 53371 17359 protein-coding gene gene with protein product 607607 nucleoporin 54kD NA 8707840 Standard NM_017426 NA Approved uc003hjs.3 Q7Z3B4 OTTHUMG00000130098 ENST00000514987.1:c.1140+34T>A chr4.hg19:g.77039193A>T NA B2RCK7|B4DT35|Q96EA7|Q9NVL5|Q9P0I1 hg19 0.02 15.229959 GAAxCAA COVERED NOVEL NUP54-004 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000362699.1 4 19.85937 KEEP 0 0 0 66 2111 AA 1 1 0 - 20 60 726 0 1 48.042416 364 60 12987 539 ENST00000514987.1 0.052083 1 NUP54 53371 __UNKNOWN__ __UNKNOWN__ 4 77045762 77045762 __UNKNOWN__ Intron SNP T T G rs7697701 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:77045762T>G ENST00000514987.1 - 8 1043 NUP54_ENST00000458189.2_Intron|NUP54_ENST00000264883.3_Intron|NUP54_ENST00000342467.6_Intron Q7Z3B4 NUP54_HUMAN nucleoporin 54kDa NA NA carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein targeting (GO:0006605)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032) cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654) nucleocytoplasmic transporter activity (GO:0005487) cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1) 19 TTCACACACATAGTCTTATAA 0.294 NA T||| 776 0.154952 0.0567 0.1282 5008 , , NA 13290 0.3512 NA 0.1312 False NA ,,, NA NA NA 2504 0.1288 NA NA NA NA 0 T 304,4102 158.5+/-191.2 15,274,1914 61 57 59 -7.2 0 4 dbSNP_116 59 1292,7306 245.6+/-274.3 100,1092,3107 no intron NUP54 NM_017426.2 115,1366,5021 GG,GT,TT 15.0268,6.8997,12.2731 77045762 1596,11408 2203 4299 6502 SO:0001627 intron_variant AF157322 CCDS3576.1, CCDS63998.1 4q21.1 2008-07-03 2002-08-29 ENSG00000138750 ENSG00000138750 53371 17359 protein-coding gene gene with protein product 607607 nucleoporin 54kD NA 8707840 Standard NM_017426 NA Approved uc003hjs.3 Q7Z3B4 OTTHUMG00000130098 ENST00000514987.1:c.1020+39A>C chr4.hg19:g.77045762T>G NA B2RCK7|B4DT35|Q96EA7|Q9NVL5|Q9P0I1 hg19 0.02 -0.33338 ACAxAGT COVERED NOVEL NUP54-004 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000362699.1 0 3.007489 KEEP 0 0 0 10 292 TT 0.992708 0.845771 0 - 4 60 149 0 0 11.25613 34 60 1242 54 ENST00000514987.1 0.105263 0.851984 NUP54 53371 __UNKNOWN__ __UNKNOWN__ 4 77051703 77051703 __UNKNOWN__ Intron SNP G G T rs57765272 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:77051703G>T ENST00000514987.1 - 7 935 NUP54_ENST00000458189.2_Intron|NUP54_ENST00000264883.3_Intron|NUP54_ENST00000342467.6_Intron Q7Z3B4 NUP54_HUMAN nucleoporin 54kDa NA NA carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein targeting (GO:0006605)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032) cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654) nucleocytoplasmic transporter activity (GO:0005487) cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1) 19 ATGCTACATTGTTTCCTGATT 0.303 NA G||| 776 0.154952 0.0567 0.1282 5008 , , NA 17190 0.3512 NA 0.1312 False NA ,,, NA NA NA 2504 0.1288 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF157322 CCDS3576.1, CCDS63998.1 4q21.1 2008-07-03 2002-08-29 ENSG00000138750 ENSG00000138750 53371 17359 protein-coding gene gene with protein product 607607 nucleoporin 54kD NA 8707840 Standard NM_017426 NA Approved uc003hjs.3 Q7Z3B4 OTTHUMG00000130098 ENST00000514987.1:c.912+105C>A chr4.hg19:g.77051703G>T NA B2RCK7|B4DT35|Q96EA7|Q9NVL5|Q9P0I1 hg19 0.02 4.091343 ATTxTTT COVERED NOVEL NUP54-004 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000362699.1 2 3.611875 KEEP 0 0 0 12 430 GG 0.993634 0.993633 0 - 7 60 252 0 0 16.587717 128 60 4854 147 ENST00000514987.1 0.051852 1 NUP54 53371 __UNKNOWN__ __UNKNOWN__ 4 77055474 77055474 __UNKNOWN__ Silent SNP A A G rs11097244 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:77055474A>G ENST00000514987.1 - 4 442 c.420T>C c.(418-420)gaT>gaC p.D140D NUP54_ENST00000515460.1_5'UTR|NUP54_ENST00000458189.2_Silent_p.D8D|NUP54_ENST00000264883.3_Silent_p.D188D|NUP54_ENST00000342467.6_Silent_p.D8D Q7Z3B4 NUP54_HUMAN nucleoporin 54kDa 188 9 X 2 AA repeats of F-G. NA carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein targeting (GO:0006605)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032) cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654) nucleocytoplasmic transporter activity (GO:0005487) cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1) 19 CCACTAGCCCATCTTCATCTT 0.343 NA A||| 777 0.155152 0.0567 0.1297 5008 , , NA 16365 0.3512 NA 0.1312 False NA ,,, NA NA NA 2504 0.1288 NA NA NA NA 0 A 308,4098 165.8+/-197.2 15,278,1910 69 60 63 564 4.7 1 4 dbSNP_120 63 1300,7300 256.2+/-280.8 101,1098,3101 no coding-synonymous NUP54 NM_017426.2 116,1376,5011 GG,GA,AA 15.1163,6.9905,12.3635 188/508 77055474 1608,11398 2203 4300 6503 SO:0001819 synonymous_variant AF157322 CCDS3576.1, CCDS63998.1 4q21.1 2008-07-03 2002-08-29 ENSG00000138750 ENSG00000138750 53371 17359 protein-coding gene gene with protein product 607607 nucleoporin 54kD NA 8707840 Standard NM_017426 NA Approved uc003hjs.3 Q7Z3B4 OTTHUMG00000130098 ENST00000514987.1:c.420T>C chr4.hg19:g.77055474A>G NA B2RCK7|B4DT35|Q96EA7|Q9NVL5|Q9P0I1 hg19 0.02 3.974257 CCCxTCT COVERED NOVEL NUP54-004 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000362699.1 0 12.636627 KEEP 0 0 0 42 1295 AA 1 1 0 - 8 60 289 0 0 19.482184 129 60 4716 215 ENST00000514987.1 0.058394 1 NUP54 53371 __UNKNOWN__ __UNKNOWN__ 4 77057501 77057501 __UNKNOWN__ Silent SNP A A G rs11558468 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:77057501A>G ENST00000514987.1 - 3 238 c.216T>C c.(214-216)acT>acC p.T72T NUP54_ENST00000515460.1_5'UTR|NUP54_ENST00000458189.2_Intron|NUP54_ENST00000264883.3_Silent_p.T120T|NUP54_ENST00000342467.6_5'UTR Q7Z3B4 NUP54_HUMAN nucleoporin 54kDa 120 9 X 2 AA repeats of F-G.|Gly-rich.|Thr-rich. NA carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein targeting (GO:0006605)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032) cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654) nucleocytoplasmic transporter activity (GO:0005487) cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1) 19 GAGCACTCGCAGTATTTATCA 0.433 NA A||| 776 0.154952 0.0567 0.1282 5008 , , NA 16678 0.3512 NA 0.1312 False NA ,,, NA NA NA 2504 0.1288 NA NA NA NA 0 A 308,4098 166.2+/-197.5 15,278,1910 92 94 93 360 3.2 1 4 dbSNP_120 93 1299,7301 257.3+/-281.4 101,1097,3102 no coding-synonymous NUP54 NM_017426.2 116,1375,5012 GG,GA,AA 15.1047,6.9905,12.3558 120/508 77057501 1607,11399 2203 4300 6503 SO:0001819 synonymous_variant AF157322 CCDS3576.1, CCDS63998.1 4q21.1 2008-07-03 2002-08-29 ENSG00000138750 ENSG00000138750 53371 17359 protein-coding gene gene with protein product 607607 nucleoporin 54kD NA 8707840 Standard NM_017426 NA Approved uc003hjs.3 Q7Z3B4 OTTHUMG00000130098 ENST00000514987.1:c.216T>C chr4.hg19:g.77057501A>G NA B2RCK7|B4DT35|Q96EA7|Q9NVL5|Q9P0I1 hg19 0.02 8.481192 CGCxGTA COVERED NOVEL NUP54-004 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000362699.1 3 17.450299 KEEP 0 0 0 58 1787 AA 1 1 0 - 17 60 580 0 0 39.610996 219 60 8160 353 ENST00000514987.1 0.072034 1 NUP54 53371 __UNKNOWN__ __UNKNOWN__ 4 77065223 77065223 __UNKNOWN__ Intron SNP A A G rs11724260 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:77065223A>G ENST00000514987.1 - 2 174 NUP54_ENST00000515460.1_Intron|NUP54_ENST00000458189.2_Intron|NUP54_ENST00000264883.3_Intron|NUP54_ENST00000342467.6_Intron Q7Z3B4 NUP54_HUMAN nucleoporin 54kDa NA NA carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein targeting (GO:0006605)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032) cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654) nucleocytoplasmic transporter activity (GO:0005487) cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1) 19 AAAGTCCACTAAAGTATTCTG 0.338 NA A||| 776 0.154952 0.0567 0.1282 5008 , , NA 18154 0.3512 NA 0.1312 False NA ,,, NA NA NA 2504 0.1288 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF157322 CCDS3576.1, CCDS63998.1 4q21.1 2008-07-03 2002-08-29 ENSG00000138750 ENSG00000138750 53371 17359 protein-coding gene gene with protein product 607607 nucleoporin 54kD NA 8707840 Standard NM_017426 NA Approved uc003hjs.3 Q7Z3B4 OTTHUMG00000130098 ENST00000514987.1:c.151+319T>C chr4.hg19:g.77065223A>G NA B2RCK7|B4DT35|Q96EA7|Q9NVL5|Q9P0I1 hg19 0.02 4.268109 ACTxAAG COVERED NOVEL NUP54-004 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000362699.1 1 3.309486 KEEP 0 0 0 11 337 AA 0.993072 0.993072 0 - 8 60 297 0 0 19.981898 141 60 4951 160 ENST00000514987.1 0.053691 1 NUP54 53371 __UNKNOWN__ __UNKNOWN__ 4 77065580 77065580 __UNKNOWN__ Silent SNP T T C rs11558469 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:77065580T>C ENST00000514987.1 - 2 136 c.114A>G c.(112-114)gcA>gcG p.A38A NUP54_ENST00000515460.1_5'UTR|NUP54_ENST00000458189.2_5'UTR|NUP54_ENST00000264883.3_Silent_p.A38A|NUP54_ENST00000342467.6_5'UTR Q7Z3B4 NUP54_HUMAN nucleoporin 54kDa 38 9 X 2 AA repeats of F-G.|Gly-rich.|Thr-rich. NA carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein targeting (GO:0006605)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032) cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654) nucleocytoplasmic transporter activity (GO:0005487) p.A38A(1) cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1) 19 AAAAGCTGAATGCAGAACCTG 0.358 NA t||| 776 0.154952 0.0567 0.1282 5008 , , NA 16392 0.3512 NA 0.1312 False NA ,,, NA NA NA 2504 0.1288 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) C 308,4098 166.2+/-197.5 15,278,1910 91 89 90 114 -8.4 0.8 4 dbSNP_120 90 1299,7301 257.2+/-281.3 101,1097,3102 no coding-synonymous NUP54 NM_017426.2 116,1375,5012 CC,CT,TT 15.1047,6.9905,12.3558 38/508 77065580 1607,11399 2203 4300 6503 SO:0001819 synonymous_variant AF157322 CCDS3576.1, CCDS63998.1 4q21.1 2008-07-03 2002-08-29 ENSG00000138750 ENSG00000138750 53371 17359 protein-coding gene gene with protein product 607607 nucleoporin 54kD NA 8707840 Standard NM_017426 NA Approved uc003hjs.3 Q7Z3B4 OTTHUMG00000130098 ENST00000514987.1:c.114A>G chr4.hg19:g.77065580T>C NA B2RCK7|B4DT35|Q96EA7|Q9NVL5|Q9P0I1 hg19 0.02 11.583957 GAAxGCA COVERED NOVEL NUP54-004 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000362699.1 1 16.550164 KEEP 0 0 0 55 1735 TT 1 1 0 - 22 60 762 0 0 54.094008 235 60 8663 395 ENST00000514987.1 0.085603 1 NUP54 53371 __UNKNOWN__ __UNKNOWN__ 4 77066887 77066887 __UNKNOWN__ Intron SNP G G T rs61102074 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:77066887G>T ENST00000514987.1 - 2 90 NUP54_ENST00000515460.1_Intron|NUP54_ENST00000458189.2_Intron|NUP54_ENST00000264883.3_Intron|NUP54_ENST00000342467.6_Intron Q7Z3B4 NUP54_HUMAN nucleoporin 54kDa NA NA carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein targeting (GO:0006605)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032) cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654) nucleocytoplasmic transporter activity (GO:0005487) cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1) 19 GAATTATATTGCAGATTTTTT 0.294 NA G||| 777 0.155152 0.0567 0.1282 5008 , , NA 19718 0.3512 NA 0.1322 False NA ,,, NA NA NA 2504 0.1288 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF157322 CCDS3576.1, CCDS63998.1 4q21.1 2008-07-03 2002-08-29 ENSG00000138750 ENSG00000138750 53371 17359 protein-coding gene gene with protein product 607607 nucleoporin 54kD NA 8707840 Standard NM_017426 NA Approved uc003hjs.3 Q7Z3B4 OTTHUMG00000130098 ENST00000514987.1:c.68-1261C>A chr4.hg19:g.77066887G>T NA B2RCK7|B4DT35|Q96EA7|Q9NVL5|Q9P0I1 hg19 0.02 -0.333388 ATTxCAG COVERED NOVEL NUP54-004 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000362699.1 0 3.912781 KEEP 0 0 0 13 469 GG 0.994391 0.847205 0 - 3 60 105 0 0 7.374668 35 60 1327 58 ENST00000514987.1 0.078947 0.851984 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 77069679 77069679 __UNKNOWN__ IGR SNP G G T rs3806733 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:77069679G>T NA NA NUP54 (11 upstream) : SCARB2 (10210 downstream) NA NA NA GGCGTAGGAGGTGGGTGGTTG 0.622 NA G||| 830 0.165735 0.0605 0.1311 5008 , , NA 16978 0.3532 NA 0.1302 False NA ,,, NA NA NA 2504 0.1759 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.77069679G>T NA hg19 0.02 8.416689 GAGxTGG COVERED NOVEL 0 0 25.279473 KEEP 0 0 0 84 2919 GG 1 1 0 9 60 322 0 0 19.970427 223 60 8249 376 0.038793 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 77069733 77069733 __UNKNOWN__ IGR SNP T T A rs3806732 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:77069733T>A NA NA NUP54 (65 upstream) : SCARB2 (10156 downstream) NA NA NA GGGCTTCACATGCTGTGGGGT 0.582 NA A||| 1294 0.258387 0.3487 0.1599 5008 , , NA 17956 0.4087 NA 0.1332 False NA ,,, NA NA NA 2504 0.18 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.77069733T>A NA hg19 0.02 4.203283 ACAxGCT COVERED NOVEL 0 1 6.620253 KEEP 0 0 0 22 699 TT 0.999879 0.999879 0 6 60 224 0 0 14.416386 139 60 5084 172 0.041379 1 SCARB2 950 __UNKNOWN__ __UNKNOWN__ 4 77081086 77081086 __UNKNOWN__ 3'UTR SNP T T A rs8475 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:77081086T>A ENST00000264896.2 - 0 3566 NM_005506.3 NP_005497.1 Q14108 SCRB2_HUMAN scavenger receptor class B, member 2 NA NA cell adhesion (GO:0007155)|protein targeting to lysosome (GO:0006622) extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|membrane (GO:0016020) enzyme binding (GO:0019899)|receptor activity (GO:0004872) breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1) 22 Lung(101;0.196) ACATGCATAATTAAGACATGC 0.264 NA A||| 1411 0.281749 0.4652 0.1643 5008 , , NA 18899 0.3532 NA 0.1272 False NA ,,, NA NA NA 2504 0.2025 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D12676 CCDS3577.1, CCDS56335.1 4q21.1 2014-07-11 2002-09-06 2002-09-06 ENSG00000138760 ENSG00000138760 950 1665 protein-coding gene gene with protein product 602257 CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 2 (lysosomal integral membrane protein II) CD36L2 NA 1374238 Standard NM_005506 NM_005506 NA Approved HLGP85, LIMPII, SR-BII, LIMP-2 uc003hju.2 Q14108 OTTHUMG00000130099 ENST00000264896.2:c.*1780A>T chr4.hg19:g.77081086T>A NA B4DKD8|E7EM68|Q53Y63 hg19 CCDS3577.1 0.02 3.86883 TAAxTAA COVERED NOVEL SCARB2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252403.1 3 5.417006 KEEP 0 0 0 18 591 TT 0.999859 0.999859 0 - 7 60 252 0 0 16.28077 142 60 5162 188 ENST00000264896.2 0.04698 1 SCARB2 950 __UNKNOWN__ __UNKNOWN__ 4 77091006 77091006 __UNKNOWN__ Intron SNP A A T rs35369082 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:77091006A>T ENST00000452464.2 - 5 744 SCARB2_ENST00000264896.2_Intron NM_001204255.1 NP_001191184.1 Q14108 SCRB2_HUMAN scavenger receptor class B, member 2 NA NA cell adhesion (GO:0007155)|protein targeting to lysosome (GO:0006622) extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|membrane (GO:0016020) enzyme binding (GO:0019899)|receptor activity (GO:0004872) breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1) 22 Lung(101;0.196) TACCAGGAGGAAGTATGTACT 0.373 NA A||| 1269 0.253395 0.3585 0.1614 5008 , , NA 21117 0.3552 NA 0.1262 False NA ,,, NA NA NA 2504 0.2025 NA NA NA NA 0 A , 1393,3013 458.4+/-352.0 208,977,1018 134 129 131 , 0.7 0 4 dbSNP_126 131 1283,7317 254.7+/-279.9 95,1093,3112 no intron,intron SCARB2 NM_001204255.1,NM_005506.3 , 303,2070,4130 TT,TA,AA 14.9186,31.616,20.5751 , , 77091006 2676,10330 2203 4300 6503 SO:0001627 intron_variant D12676 CCDS3577.1, CCDS56335.1 4q21.1 2014-07-11 2002-09-06 2002-09-06 ENSG00000138760 ENSG00000138760 950 1665 protein-coding gene gene with protein product 602257 CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 2 (lysosomal integral membrane protein II) CD36L2 NA 1374238 Standard NM_005506 NM_005506 NA Approved HLGP85, LIMPII, SR-BII, LIMP-2 uc003hju.2 Q14108 OTTHUMG00000130099 ENST00000452464.2:c.684+13T>A chr4.hg19:g.77091006A>T NA B4DKD8|E7EM68|Q53Y63 hg19 CCDS56335.1 0.02 5.936315 AGGxAGT COVERED NOVEL SCARB2-002 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000362702.1 0 8.125473 KEEP 0 0 0 27 889 AA 0.999997 0.999997 0 - 16 60 529 0 0 37.826825 147 60 5241 216 ENST00000452464.2 0.09816 1 FAM47E 100129583 __UNKNOWN__ __UNKNOWN__ 4 77177571 77177571 __UNKNOWN__ Intron SNP G G A rs560855508 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:77177571G>A ENST00000510197.1 + 3 495 FAM47E-STBD1_ENST00000539752.1_Intron|FAM47E_ENST00000424749.2_Silent_p.S105S|FAM47E_ENST00000515589.1_3'UTR|FAM47E_ENST00000515604.1_Silent_p.S105S|FAM47E_ENST00000339906.6_Intron NM_001242936.1 NP_001229865.1 Q6ZV65 FA47E_HUMAN family with sequence similarity 47, member E NA NA NA CCAAGCTCTCGCCAGCCCAGC 0.577 NA G||| 3 0.000599042 0.0 0.0 5008 , , NA 17990 0.003 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 47 46 46 NA NA 4 NA 77177571 692 1591 2283 SO:0001627 intron_variant AC034139, AK124936, CR591456, CR627383 CCDS47081.1, CCDS58907.1 4q21.1 2013-04-23 ENSG00000189157 ENSG00000189157 100129583 34343 protein-coding gene gene with protein product similar to genethonin 1 NA Standard NM_001136570 NM_001136570 NA Approved FLJ42946, LOC100129583 uc003hjx.3 Q6ZV65 OTTHUMG00000185390 ENST00000510197.1:c.82-7286G>A chr4.hg19:g.77177571G>A NA D6R8Y4 hg19 CCDS58907.1 0.02 9.674981 CTCxCCA COVERED NOVEL FAM47E-007 NOVEL basic|appris_candidate|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000362534.1 3 15.348767 KEEP 0 0 0 51 1758 GG 1 1 0 + 10 60 346 0 0 20.810359 260 60 9188 373 ENST00000510197.1 0.037037 1 CCDC158 339965 __UNKNOWN__ __UNKNOWN__ 4 77305408 77305408 __UNKNOWN__ Nonsense_Mutation SNP G G A rs566669186 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:77305408G>A ENST00000434846.2 - 5 729 c.559C>T c.(559-561)Caa>Taa p.Q187* CCDC158_ENST00000388914.3_Nonsense_Mutation_p.Q187* Q5M9N0 CD158_HUMAN coiled-coil domain containing 158 187 NA breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1) 56 CGGATTTCTTGAAGCACTCCC 0.443 NA G||| 2 0.000399361 0.0 0.0 5008 , , NA 16292 0.002 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 151 140 144 NA NA 4 NA 77305408 1915 4121 6036 SO:0001587 stop_gained BC035224 CCDS43242.1 4q21.1 2009-04-06 ENSG00000163749 ENSG00000163749 339965 26374 protein-coding gene gene with protein product NA 12477932 Standard NM_001042784 NM_001042784 NA Approved FLJ25770 uc003hkb.4 Q5M9N0 OTTHUMG00000160916 ENST00000434846.2:c.559C>T chr4.hg19:g.77305408G>A ENSP00000401742:p.Gln187* NA Q8IYQ1|Q8N7D4|Q8N7E3 hg19 0.02 18.946411 CTTxAAG COVERED . . . . . . . . . . G 14.19 2.460860 0.43736 . . ENSG00000163749 ENST00000388914;ENST00000318586;ENST00000434846 . . . 5.71 5.71 0.89125 . 0.367857 0.23600 N 0.046450 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.16896 T 0.51 . 16.7725 0.85542 0.0:0.0:1.0:0.0 . . . . X 187 . ENSP00000316815:Q187X Q - 1 0 CCDC158 77524432 0.998000 0.40836 1.000000 0.80357 0.009000 0.06853 3.484000 0.53201 2.706000 0.92434 0.650000 0.86243 CAA NOVEL CCDC158-005 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000362692.2 3 21.669636 KEEP 0 0 0 72 2493 GG 1 1 0 - 18 60 626 0 0 37.87756 466 60 17974 667 ENST00000434846.2 0.03719 1 SHROOM3 57619 __UNKNOWN__ __UNKNOWN__ 4 77631425 77631425 __UNKNOWN__ Missense_Mutation SNP T T A rs3821979 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:77631425T>A ENST00000296043.6 + 3 1393 c.440T>A c.(439-441)cTt>cAt p.L147H SHROOM3_ENST00000473602.1_3'UTR NM_020859.3 NP_065910.3 Q8TF72 SHRM3_HUMAN shroom family member 3 147 NA L -> H (in dbSNP:rs3821979). actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360) adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874) NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) GGGGTTAAACTTCGGCTGAAG 0.577 NA T||| 1097 0.21905 0.1611 0.2032 5008 , , NA 18546 0.3363 NA 0.1093 False NA ,,, NA NA NA 2504 0.3006 NA NA NA NA 0 GRCh37 CM063143 SHROOM3 M rs3821979 T HIS/LEU 760,3646 310.0+/-291.3 62,636,1505 85 73 77 440 3.8 1 4 dbSNP_107 77 1131,7469 233.3+/-266.6 83,965,3252 yes missense SHROOM3 NM_020859.3 99 145,1601,4757 AA,AT,TT 13.1512,17.2492,14.5394 probably-damaging 147/1997 77631425 1891,11115 2203 4300 6503 SO:0001583 missense AB055660 CCDS3579.2 4q21.1 2009-11-25 ENSG00000138771 ENSG00000138771 57619 30422 protein-coding gene gene with protein product 604570 NA 10589677, 16615870 Standard NM_020859 NM_020859 NA Approved ShrmL, SHRM, KIAA1481, APXL3 uc011cbx.2 Q8TF72 OTTHUMG00000157075 ENST00000296043.6:c.440T>A chr4.hg19:g.77631425T>A ENSP00000296043:p.Leu147His NA Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247 hg19 CCDS3579.2 0.02 6.736689 AACxTCG COVERED 404 0.184981684981685 80 0.16260162601626016 70 0.19337016574585636 173 0.30244755244755245 81 0.10686015831134564 T 15.60 2.882384 0.51908 0.172492 0.131512 ENSG00000138771 ENST00000296043 T 0.34472 1.36 4.96 3.78 0.43462 . 0.000000 0.36101 N 0.002789 T 0.00012 0.0000 M 0.62723 1.935 0.31241 P 0.695171 D 0.71674 0.998 P 0.60789 0.879 T 0.15896 -1.0421 9 0.87932 D 0 -2.793 7.8964 0.29708 0.0:0.0961:0.0:0.9039 rs3821979;rs52831344;rs3821979 147 Q8TF72 SHRM3_HUMAN H 147 ENSP00000296043:L147H ENSP00000296043:L147H L + 2 0 SHROOM3 77850449 0.921000 0.31238 1.000000 0.80357 0.879000 0.50718 0.142000 0.16096 1.002000 0.39104 0.482000 0.46254 CTT NOVEL SHROOM3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252408.2 0 10.530592 KEEP 0 0 0 35 1155 TT 0.999999 0.999999 0 + 9 60 325 0 0 21.443348 164 60 5690 245 ENST00000296043.6 0.052023 1 SHROOM3 57619 __UNKNOWN__ __UNKNOWN__ 4 77677667 77677667 __UNKNOWN__ Missense_Mutation SNP T T C rs189365131 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:77677667T>C ENST00000296043.6 + 8 5728 c.4775T>C c.(4774-4776)gTa>gCa p.V1592A NM_020859.3 NP_065910.3 Q8TF72 SHRM3_HUMAN shroom family member 3 1592 NA actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360) adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874) NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) GCCCATGTGGTAGGTAGTCAG 0.463 NA T||| 5 0.000998403 0.0 0.0 5008 , , NA 18524 0.005 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 62 61 61 NA NA 4 NA 77677667 2203 4300 6503 SO:0001583 missense AB055660 CCDS3579.2 4q21.1 2009-11-25 ENSG00000138771 ENSG00000138771 57619 30422 protein-coding gene gene with protein product 604570 NA 10589677, 16615870 Standard NM_020859 NM_020859 NA Approved ShrmL, SHRM, KIAA1481, APXL3 uc011cbx.2 Q8TF72 OTTHUMG00000157075 ENST00000296043.6:c.4775T>C chr4.hg19:g.77677667T>C ENSP00000296043:p.Val1592Ala NA Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247 hg19 CCDS3579.2 0.02 2.1419 TGGxAGG COVERED 2 9.157509157509158E-4 0 0.0 0 0.0 2 0.0034965034965034965 0 0.0 T 9.106 1.005374 0.19199 . . ENSG00000138771 ENST00000296043;ENST00000264907 T 0.20200 2.09 4.21 -7.1 0.01547 . 1.607750 0.03387 N 0.201332 T 0.09335 0.0230 N 0.22421 0.69 0.09310 N 1 B 0.06786 0.001 B 0.04013 0.001 T 0.26780 -1.0093 10 0.08599 T 0.76 1.5357 2.1187 0.03720 0.1344:0.2642:0.3872:0.2142 . 1592 Q8TF72 SHRM3_HUMAN A 1592;69 ENSP00000296043:V1592A ENSP00000264907:V69A V + 2 0 SHROOM3 77896691 0.000000 0.05858 0.000000 0.03702 0.052000 0.14988 -2.386000 0.01061 -1.342000 0.02222 -0.449000 0.05564 GTA NOVEL SHROOM3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252408.2 2 7.521399 KEEP 0 0 0 25 761 TT 0.999931 0.999553 0 + 4 60 153 0 0 10.205545 81 60 2759 137 ENST00000296043.6 0.047059 0.999622 SOWAHB 345079 __UNKNOWN__ __UNKNOWN__ 4 77817218 77817218 __UNKNOWN__ Silent SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:77817218G>A ENST00000334306.2 - 1 1784 c.1785C>T c.(1783-1785)gcC>gcT p.A595A NM_001029870.1 NP_001025041.1 A6NEL2 SWAHB_HUMAN sosondowah ankyrin repeat domain family member B 595 NA NA CATGCTCCCTGGCATCTAGTG 0.567 NA NA NA NA NA NA NA NA NA NA NA 0 62 56 58 NA NA 4 NA 77817218 2203 4300 6503 SO:0001819 synonymous_variant CCDS34017.1 4q21.1 2013-01-10 2012-01-12 2012-01-12 ENSG00000186212 ENSG00000186212 345079 Ankyrin repeat domain containing 32958 protein-coding gene gene with protein product ankyrin repeat domain 56 ANKRD56 NA 22234889 Standard NM_001029870 NM_001029870 NA Approved uc003hki.3 A6NEL2 OTTHUMG00000160876 ENST00000334306.2:c.1785C>T chr4.hg19:g.77817218G>A NA B2RP29 hg19 CCDS34017.1 0.02 13.843162 CCTxGCA COVERED NOVEL SOWAHB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000362762.1 3 20.767217 KEEP 0 0 0 69 2471 GG 1 1 0 - 14 60 495 0 0 30.94666 326 60 12287 514 ENST00000334306.2 0.041176 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 78034309 78034309 __UNKNOWN__ IGR SNP A A C rs4859743 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:78034309A>C NA NA CCNI (37151 upstream) : RNU6-1187P (37171 downstream) NA NA NA GTTCCAGATGATCCTCAGGTC 0.622 NA A||| 1502 0.29992 0.0703 0.3862 5008 , , NA 16677 0.379 NA 0.3708 False NA ,,, NA NA NA 2504 0.3947 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.78034309A>C NA hg19 0.02 11.874738 ATGxTCC COVERED NOVEL 0 4 24.974369 KEEP 0 0 0 83 2609 AA 1 1 0 9 60 322 0 0 18.504121 327 60 11742 518 0.026786 1 CCNG2 901 __UNKNOWN__ __UNKNOWN__ 4 78089906 78089906 __UNKNOWN__ 3'UTR SNP C C T rs4640692 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:78089906C>T ENST00000316355.5 + 0 4220 CCNG2_ENST00000497512.1_Intron|CCNG2_ENST00000354403.5_Intron NM_004354.2 NP_004345.1 Q16589 CCNG2_HUMAN cyclin G2 NA NA cell cycle checkpoint (GO:0000075)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726) cytoplasm (GO:0005737) breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 10 AGTCCAGGAGCCTGGTTATAC 0.488 NA C||| 2363 0.471845 0.3964 0.6023 5008 , , NA 18890 0.502 NA 0.5298 False NA ,,, NA NA NA 2504 0.3906 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC032518 CCDS3581.1 4q21.22 2009-05-07 ENSG00000138764 ENSG00000138764 901 1593 protein-coding gene gene with protein product 603203 NA 8806701 Standard NM_004354 NM_004354 NA Approved uc003hkq.4 Q16589 OTTHUMG00000130100 ENST00000316355.5:c.*2829C>T chr4.hg19:g.78089906C>T NA B4DF25|Q6FGA7|Q6FGC6 hg19 CCDS3581.1 0.02 3.478792 GAGxCTG COVERED NOVEL CCNG2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252404.3 2 7.223297 KEEP 0 0 0 24 845 CC 0.999909 0.999909 0 + 6 60 206 0 0 12.565149 142 60 5218 190 ENST00000316355.5 0.040541 1 FRAS1 80144 __UNKNOWN__ __UNKNOWN__ 4 79393269 79393269 __UNKNOWN__ Intron SNP T T C rs28566963 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:79393269T>C ENST00000264895.6 + 52 7811 NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser extracellular matrix complex subunit 1 NA NA cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618) metal ion binding (GO:0046872) breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 taaATCTGAGTCAGAGGGTCT 0.413 NA T||| 1582 0.315895 0.112 0.268 5008 , , NA 20455 0.4673 NA 0.2694 False NA ,,, NA NA NA 2504 0.5174 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB040933 CCDS54772.1 4q21.21 2014-06-25 2014-06-25 ENSG00000138759 ENSG00000138759 80144 19185 protein-coding gene gene with protein product 607830 Fraser syndrome 1 NA 12766769, 3118036 Standard NM_025074 NA Approved FLJ22031, FLJ14927, KIAA1500 uc003hlb.2 Q86XX4 OTTHUMG00000160856 ENST00000264895.6:c.7372-65T>C chr4.hg19:g.79393269T>C NA A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228 hg19 CCDS54771.1 0.02 9.885909 GAGxCAG COVERED NOVEL FRAS1-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding 0 5.414678 KEEP 0 0 0 18 531 TT 0.999859 0.999859 0 + 11 60 357 0 0 21.145841 269 60 9435 313 ENST00000264895.6 0.039286 1 FRAS1 80144 __UNKNOWN__ __UNKNOWN__ 4 79437155 79437155 __UNKNOWN__ Silent SNP C C T rs3749487 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:79437155C>T ENST00000264895.6 + 66 10817 c.10377C>T c.(10375-10377)acC>acT p.T3459T NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser extracellular matrix complex subunit 1 3455 NA cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618) metal ion binding (GO:0046872) p.T3459T(2)|p.T3460T(1) breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 GCTCTGTAACCGCTGACTTCC 0.507 NA C||| 884 0.176518 0.177 0.1398 5008 , , NA 18849 0.2242 NA 0.2058 False NA ,,, NA NA NA 2504 0.1227 NA NA NA NA 3 Substitution - coding silent(3) prostate(3) C 762,3516 66,630,1443 69 74 72 10377 -4.6 0.7 4 dbSNP_107 72 1551,6979 140,1271,2854 no coding-synonymous FRAS1 NM_025074.6 206,1901,4297 TT,TC,CC 18.1829,17.8121,18.059 3459/4013 79437155 2313,10495 2139 4265 6404 SO:0001819 synonymous_variant AB040933 CCDS54772.1 4q21.21 2014-06-25 2014-06-25 ENSG00000138759 ENSG00000138759 80144 19185 protein-coding gene gene with protein product 607830 Fraser syndrome 1 NA 12766769, 3118036 Standard NM_025074 NA Approved FLJ22031, FLJ14927, KIAA1500 uc003hlb.2 Q86XX4 OTTHUMG00000160856 ENST00000264895.6:c.10377C>T chr4.hg19:g.79437155C>T NA A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228 hg19 CCDS54771.1 0.02 13.851081 AACxGCT COVERED 432 0.1978021978021978 96 0.1951219512195122 58 0.16022099447513813 128 0.22377622377622378 150 0.19788918205804748 C 1.309 -0.602724 0.03744 0.178121 0.181829 ENSG00000138759 ENST00000512123 . . . 5.97 -4.61 0.03380 . . . . . T 0.00012 0.0000 . . . 0.09310 P 1.0 . . . . . . T 0.33929 -0.9849 3 . . . . 2.7957 0.05400 0.1827:0.3609:0.0961:0.3603 rs3749487;rs57228815 . . . C 1688 . . R + 1 0 FRAS1 79656179 0.002000 0.14202 0.743000 0.31040 0.168000 0.22595 -1.645000 0.02000 -0.358000 0.08162 -0.606000 0.04082 CGC NOVEL FRAS1-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding 0 20.464565 KEEP 0 0 0 68 2354 CC 1 1 0 + 10 60 375 0 0 23.168258 295 60 10386 486 ENST00000264895.6 0.032787 1 FRAS1 80144 __UNKNOWN__ __UNKNOWN__ 4 79455714 79455714 __UNKNOWN__ Silent SNP C C G rs4975070 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:79455714C>G ENST00000264895.6 + 71 11477 c.11037C>G c.(11035-11037)ccC>ccG p.P3679P NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser extracellular matrix complex subunit 1 3675 NA cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618) metal ion binding (GO:0046872) breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 TAATGGATCCCAATACATCTG 0.448 NA C||| 2579 0.514976 0.3086 0.4395 5008 , , NA 20789 0.7758 NA 0.4632 False NA ,,, NA NA NA 2504 0.6319 NA NA NA NA 0 C 1279,2509 215,849,830 128 115 119 11037 3.2 1 4 dbSNP_111 119 3593,4649 791,2011,1319 no coding-synonymous FRAS1 NM_025074.6 1006,2860,2149 GG,GC,CC 43.5938,33.7645,40.4988 3679/4013 79455714 4872,7158 1894 4121 6015 SO:0001819 synonymous_variant AB040933 CCDS54772.1 4q21.21 2014-06-25 2014-06-25 ENSG00000138759 ENSG00000138759 80144 19185 protein-coding gene gene with protein product 607830 Fraser syndrome 1 NA 12766769, 3118036 Standard NM_025074 NA Approved FLJ22031, FLJ14927, KIAA1500 uc003hlb.2 Q86XX4 OTTHUMG00000160856 ENST00000264895.6:c.11037C>G chr4.hg19:g.79455714C>G NA A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228 hg19 CCDS54771.1 0.02 8.663346 TCCxAAT COVERED 1143 0.5233516483516484 172 0.34959349593495936 163 0.45027624309392267 453 0.791958041958042 355 0.4683377308707124 C 6.186 0.402486 0.11696 0.337645 0.435938 ENSG00000138759 ENST00000512123 . . . 5.05 3.2 0.36748 . . . . . T 0.00012 0.0000 . . . 0.09310 P 1.0 . . . . . . T 0.33523 -0.9865 3 . . . . 9.0976 0.36649 0.2536:0.6722:0.0:0.0741 rs4975070;rs61687904;rs4975070 . . . E 1908 . . Q + 1 0 FRAS1 79674738 0.997000 0.39634 1.000000 0.80357 0.777000 0.43975 0.493000 0.22451 2.336000 0.79503 0.591000 0.81541 CAA NOVEL FRAS1-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding 0 5.116674 KEEP 0 0 0 17 601 CC 0.999366 0.999366 0 + 11 60 405 0 0 26.403703 227 60 8612 283 ENST00000264895.6 0.046218 1 FRAS1 80144 __UNKNOWN__ __UNKNOWN__ 4 79455733 79455733 __UNKNOWN__ Silent SNP C C T rs4975139 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:79455733C>T ENST00000264895.6 + 71 11496 c.11056C>T c.(11056-11058)Cta>Tta p.L3686L NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser extracellular matrix complex subunit 1 3682 NA cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618) metal ion binding (GO:0046872) breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 TGATATGTCACTAGCAGAAAT 0.438 NA C||| 2579 0.514976 0.3086 0.4395 5008 , , NA 21167 0.7758 NA 0.4632 False NA ,,, NA NA NA 2504 0.6319 NA NA NA NA 0 C 1271,2491 214,843,824 104 93 97 11056 2.4 1 4 dbSNP_111 97 3591,4647 790,2011,1318 no coding-synonymous FRAS1 NM_025074.6 1004,2854,2142 TT,TC,CC 43.5907,33.7852,40.5167 3686/4013 79455733 4862,7138 1881 4119 6000 SO:0001819 synonymous_variant AB040933 CCDS54772.1 4q21.21 2014-06-25 2014-06-25 ENSG00000138759 ENSG00000138759 80144 19185 protein-coding gene gene with protein product 607830 Fraser syndrome 1 NA 12766769, 3118036 Standard NM_025074 NA Approved FLJ22031, FLJ14927, KIAA1500 uc003hlb.2 Q86XX4 OTTHUMG00000160856 ENST00000264895.6:c.11056C>T chr4.hg19:g.79455733C>T NA A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228 hg19 CCDS54771.1 0.02 8.74813 TCAxTAG COVERED 1143 0.5233516483516484 172 0.34959349593495936 163 0.45027624309392267 453 0.791958041958042 355 0.4683377308707124 C 5.004 0.186442 0.09495 0.337852 0.435907 ENSG00000138759 ENST00000512123 . . . 5.05 2.41 0.29592 . . . . . T 0.00012 0.0000 . . . 0.09310 P 0.9999999999856936 . . . . . . T 0.20940 -1.0260 3 . . . . 6.0073 0.19553 0.1323:0.6491:0.0:0.2186 rs4975139;rs58497218;rs4975139 . . . I 1914 . . T + 2 0 FRAS1 79674757 0.602000 0.26916 0.987000 0.45799 0.774000 0.43823 1.126000 0.31344 0.174000 0.19809 -0.216000 0.12614 ACT NOVEL FRAS1-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding 1 4.514907 KEEP 0 0 0 15 550 CC 0.99649 0.99649 0 + 8 60 281 0 0 17.058632 209 60 7911 257 ENST00000264895.6 0.036866 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 79463579 79463579 __UNKNOWN__ IGR SNP G G A rs3210826 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:79463579G>A NA NA FRAS1 (1301 upstream) : ANXA3 (9093 downstream) NA NA NA AAACATAAGCGTGCATGCCAT 0.393 NA A||| 928 0.185304 0.3321 0.0533 5008 , , NA 23334 0.3403 NA 0.0408 False NA ,,, NA NA NA 2504 0.0695 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.79463579G>A NA hg19 0.02 1.719566 AGCxTGC COVERED NOVEL 0 1 4.799593 KEEP 0 0 0 16 521 GG 0.997832 0.997788 0 4 60 146 0 0 9.235779 95 60 3319 130 0.040404 0.999956 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 79464092 79464092 __UNKNOWN__ IGR SNP G G A rs17003321 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:79464092G>A NA NA FRAS1 (1814 upstream) : ANXA3 (8580 downstream) NA NA NA CTCTGGCGGTGGTCCTAAGGA 0.403 NA G||| 944 0.188498 0.298 0.0591 5008 , , NA 23840 0.3482 NA 0.0746 False NA ,,, NA NA NA 2504 0.0849 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.79464092G>A NA hg19 0.02 3.90942 GGTxGTC COVERED NOVEL 0 0 6.017458 KEEP 0 0 0 20 680 GG 0.999863 0.999863 0 7 60 244 0 0 15.837188 126 60 4623 174 0.052632 1 PAQR3 152559 __UNKNOWN__ __UNKNOWN__ 4 79838811 79838811 __UNKNOWN__ 3'UTR SNP C C G rs9307446 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:79838811C>G ENST00000512733.1 - 0 4031 PAQR3_ENST00000515541.1_Intron|PAQR3_ENST00000295462.3_Intron NM_001040202.1 NP_001035292.1 Q6TCH7 PAQR3_HUMAN progestin and adipoQ receptor family member III NA NA negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron projection development (GO:0010977)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein phosphorylation (GO:0001933)|protein localization to Golgi apparatus (GO:0034067) Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) receptor activity (GO:0004872) breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1) 8 TGATGATTTACAGTGGACAGG 0.428 NA G||| 4118 0.822284 0.8411 0.7478 5008 , , NA 20353 0.8938 NA 0.8658 False NA ,,, NA NA NA 2504 0.7311 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK055774 CCDS34020.1 4q21 2008-02-05 ENSG00000163291 152559 30130 protein-coding gene gene with protein product 614577 NA 16044242 Standard NM_177453 XM_006714104 NA Approved uc003hlp.1 Q6TCH7 ENST00000512733.1:c.*2882G>C chr4.hg19:g.79838811C>G NA A8K5B7|B3KP59|Q6PIQ1|Q86X05|Q8NCP9 hg19 CCDS34020.1 0.02 4.156947 TTAxAGT COVERED NOVEL PAQR3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000363442.1 1 6.314583 KEEP 0 0 0 21 721 CC 0.999869 0.999869 0 - 5 60 182 0 0 11.240429 134 60 5034 191 ENST00000512733.1 0.035971 1 PAQR3 152559 __UNKNOWN__ __UNKNOWN__ 4 79845007 79845007 __UNKNOWN__ Intron SNP C C A rs13108247 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:79845007C>A ENST00000512733.1 - 5 1007 PAQR3_ENST00000515541.1_Intron|PAQR3_ENST00000380645.4_Intron|PAQR3_ENST00000295462.3_Intron NM_001040202.1 NP_001035292.1 Q6TCH7 PAQR3_HUMAN progestin and adipoQ receptor family member III NA NA negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron projection development (GO:0010977)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein phosphorylation (GO:0001933)|protein localization to Golgi apparatus (GO:0034067) Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) receptor activity (GO:0004872) breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1) 8 AAAGAGATACCTACCTGGAAA 0.348 NA C||| 3566 0.712061 0.7337 0.7032 5008 , , NA 19645 0.6597 NA 0.826 False NA ,,, NA NA NA 2504 0.6258 NA NA NA NA 0 C 3187,1219 705.1+/-407.2 1164,859,180 73 69 70 -3.5 0.1 4 dbSNP_121 70 6951,1649 739.2+/-407.1 2813,1325,162 no intron PAQR3 NM_001040202.1 3977,2184,342 AA,AC,CC 19.1744,27.6668,22.0514 79845007 10138,2868 2203 4300 6503 SO:0001627 intron_variant AK055774 CCDS34020.1 4q21 2008-02-05 ENSG00000163291 152559 30130 protein-coding gene gene with protein product 614577 NA 16044242 Standard NM_177453 XM_006714104 NA Approved uc003hlp.1 Q6TCH7 ENST00000512733.1:c.793+3G>T chr4.hg19:g.79845007C>A NA A8K5B7|B3KP59|Q6PIQ1|Q86X05|Q8NCP9 hg19 CCDS34020.1 0.02 6.430734 TACxTAC COVERED NOVEL PAQR3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000363442.1 0 2.879592 KEEP 0 2 64 32 1140 CC 0.999998 0.999998 0 - 6 60 224 0 0 14.291267 146 60 5436 230 ENST00000512733.1 0.039474 1 PAQR3 152559 __UNKNOWN__ __UNKNOWN__ 4 79854436 79854436 __UNKNOWN__ Intron SNP T T C rs10857059 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:79854436T>C ENST00000512733.1 - 2 562 PAQR3_ENST00000380645.4_Intron|PAQR3_ENST00000295462.3_Intron NM_001040202.1 NP_001035292.1 Q6TCH7 PAQR3_HUMAN progestin and adipoQ receptor family member III NA NA negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron projection development (GO:0010977)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein phosphorylation (GO:0001933)|protein localization to Golgi apparatus (GO:0034067) Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) receptor activity (GO:0004872) breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1) 8 tgaatgTAAATGGATCAAATC 0.353 NA T||| 4123 0.823283 0.8419 0.7478 5008 , , NA 19104 0.8948 NA 0.8658 False NA ,,, NA NA NA 2504 0.7342 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK055774 CCDS34020.1 4q21 2008-02-05 ENSG00000163291 152559 30130 protein-coding gene gene with protein product 614577 NA 16044242 Standard NM_177453 XM_006714104 NA Approved uc003hlp.1 Q6TCH7 ENST00000512733.1:c.348+1838A>G chr4.hg19:g.79854436T>C NA A8K5B7|B3KP59|Q6PIQ1|Q86X05|Q8NCP9 hg19 CCDS34020.1 0.02 5.230016 AAAxGGA COVERED NOVEL PAQR3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000363442.1 1 3.745887 KEEP 0 1 33 24 760 TT 0.999931 0.999931 0 - 8 60 269 0 0 16.176589 190 60 7028 244 ENST00000512733.1 0.040404 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 81001141 81001141 __UNKNOWN__ IGR SNP A A T rs72655057 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:81001141A>T NA NA ANTXR2 (6515 upstream) : RP11-377G16.2 (103292 downstream) NA NA NA CTGGGACATCAGAATAAACCA 0.463 NA A||| 1526 0.304712 0.3396 0.2622 5008 , , NA 20970 0.5615 NA 0.1044 False NA ,,, NA NA NA 2504 0.229 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.81001141A>T NA hg19 0.02 2.032751 ATCxGAA COVERED NOVEL 0 0 3.308822 KEEP 0 0 0 11 326 AA 0.993072 0.960723 0 5 60 181 0 0 13.341889 47 60 1700 64 0.096154 0.967425 PRDM8 56978 __UNKNOWN__ __UNKNOWN__ 4 81124596 81124596 __UNKNOWN__ Silent SNP G G C rs12780 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:81124596G>C ENST00000504452.1 + 8 2819 c.1980G>C c.(1978-1980)cgG>cgC p.R660R PRDM8_ENST00000339711.4_Silent_p.R660R|PRDM8_ENST00000415738.2_Silent_p.R660R Q9NQV8 PRDM8_HUMAN PR domain containing 8 660 NA corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714) breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2) 10 TGGTGAAGCGGCGGCGAGAGG 0.572 NA G||| 1745 0.348442 0.1672 0.3372 5008 , , NA 12837 0.626 NA 0.2724 False NA ,,, NA NA NA 2504 0.3937 NA NA NA NA 0 G , 746,3544 70,606,1469 32 38 36 1980,1980 1.1 1 4 dbSNP_52 36 2160,6384 289,1582,2401 no coding-synonymous,coding-synonymous PRDM8 NM_001099403.1,NM_020226.3 , 359,2188,3870 CC,CG,GG 25.2809,17.3893,22.643 , 660/690,660/690 81124596 2906,9928 2145 4272 6417 SO:0001819 synonymous_variant AF275815 CCDS43243.1 4q21 2008-08-21 ENSG00000152784 56978 13993 protein-coding gene gene with protein product NA Standard NM_020226 NA Approved uc003hmc.4 Q9NQV8 ENST00000504452.1:c.1980G>C chr4.hg19:g.81124596G>C NA A8K7X2|Q6IQ36 hg19 CCDS43243.1 0.02 12.809415 GCGxCGG COVERED NOVEL PRDM8-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000362793.1 0 32.20363 KEEP 0 0 0 107 3784 GG 1 1 0 + 22 60 795 0 0 54.494917 322 60 11853 549 ENST00000504452.1 0.063953 1 PRDM8 56978 __UNKNOWN__ __UNKNOWN__ 4 81124824 81124824 __UNKNOWN__ 3'UTR SNP C C G rs2292844 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:81124824C>G ENST00000504452.1 + 0 3047 PRDM8_ENST00000339711.4_3'UTR|PRDM8_ENST00000415738.2_3'UTR Q9NQV8 PRDM8_HUMAN PR domain containing 8 NA NA corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714) breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2) 10 GCCCCCCCGCCCCCCCAACGC 0.572 NA C||| 1767 0.352835 0.1679 0.3386 5008 , , NA 8596 0.627 NA 0.2734 False NA ,,, NA NA NA 2504 0.4121 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF275815 CCDS43243.1 4q21 2008-08-21 ENSG00000152784 56978 13993 protein-coding gene gene with protein product NA Standard NM_020226 NA Approved uc003hmc.4 Q9NQV8 ENST00000504452.1:c.*138C>G chr4.hg19:g.81124824C>G NA A8K7X2|Q6IQ36 hg19 CCDS43243.1 0.02 2.138468 CGCxCCC COVERED NOVEL PRDM8-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000362793.1 2 10.834874 KEEP 0 0 0 36 1247 CC 0.999999 0.9982 0 + 15 60 514 0 0 42.358393 59 60 2082 133 ENST00000504452.1 0.202703 0.9982 PRDM8 56978 __UNKNOWN__ __UNKNOWN__ 4 81124889 81124889 __UNKNOWN__ 3'UTR SNP C C T rs2292843 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:81124889C>T ENST00000504452.1 + 0 3112 PRDM8_ENST00000339711.4_3'UTR|PRDM8_ENST00000415738.2_3'UTR Q9NQV8 PRDM8_HUMAN PR domain containing 8 NA NA corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714) breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2) 10 ACCCGGGacacacaccccccc 0.547 NA C||| 1762 0.351837 0.1672 0.3386 5008 , , NA 9383 0.626 NA 0.2724 False NA ,,, NA NA NA 2504 0.41 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF275815 CCDS43243.1 4q21 2008-08-21 ENSG00000152784 56978 13993 protein-coding gene gene with protein product NA Standard NM_020226 NA Approved uc003hmc.4 Q9NQV8 ENST00000504452.1:c.*203C>T chr4.hg19:g.81124889C>T NA A8K7X2|Q6IQ36 hg19 CCDS43243.1 0.02 -0.210498 ACAxACA COVERED NOVEL PRDM8-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000362793.1 0 2.406118 KEEP 0 0 0 8 236 CC 0.99257 0.518282 0 + 4 60 121 0 0 9.314274 20 60 679 35 ENST00000504452.1 0.166667 0.522161 PRDM8 56978 __UNKNOWN__ __UNKNOWN__ 4 81124900 81124900 __UNKNOWN__ 3'UTR SNP C C A rs149511008|rs375364524|rs76116250 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:81124900C>A ENST00000504452.1 + 0 3123 PRDM8_ENST00000339711.4_3'UTR|PRDM8_ENST00000415738.2_3'UTR Q9NQV8 PRDM8_HUMAN PR domain containing 8 NA NA corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714) breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2) 10 acacccccccccacacacaca 0.547 NA C||| 2018 0.402955 0.4455 0.33 5008 , , NA 9951 0.6161 NA 0.1769 False NA ,,, NA NA NA 2504 0.41 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF275815 CCDS43243.1 4q21 2008-08-21 ENSG00000152784 56978 13993 protein-coding gene gene with protein product NA Standard NM_020226 NA Approved uc003hmc.4 Q9NQV8 ENST00000504452.1:c.*214C>A chr4.hg19:g.81124900C>A NA A8K7X2|Q6IQ36 hg19 CCDS43243.1 0.02 -0.193003 CCCxCAC COVERED NOVEL PRDM8-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000362793.1 2 4.212596 KEEP 0 0 0 14 453 CC 0.99649 0.45615 0 + 3 60 97 0 0 7.326753 19 60 678 41 ENST00000504452.1 0.136364 0.457757 SCD5 79966 __UNKNOWN__ __UNKNOWN__ 4 83581613 83581613 __UNKNOWN__ Intron SNP G G C rs35061774|rs386676679 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:83581613G>C ENST00000319540.4 - 3 889 SCD5_ENST00000273908.4_3'UTR NM_001037582.2 NP_001032671.2 Q86SK9 SCD5_HUMAN stearoyl-CoA desaturase 5 NA NA fatty acid biosynthetic process (GO:0006633) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768) endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1) 13 Colorectal(4;0.0323)|Hepatocellular(203;0.115) ACGTGTACAGGTTTTTAGAAC 0.274 NA C||| 3055 0.610024 0.4887 0.7435 5008 , , NA 17831 0.622 NA 0.6252 False NA ,,, NA NA NA 2504 0.6513 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF389338 CCDS3595.1, CCDS34024.1 4q21.3 2013-01-25 2005-06-09 2005-06-09 ENSG00000145284 ENSG00000145284 79966 Fatty acid desaturases 21088 protein-coding gene gene with protein product 608370 stearoyl-CoA desaturase 4 SCD4 NA 12477932 Standard NM_024906 NM_024906 NA Approved ACOD4, FLJ21032, FADS4, HSCD5 uc003hna.2 Q86SK9 OTTHUMG00000130293 ENST00000319540.4:c.569+20246C>G chr4.hg19:g.83581613G>C NA B2RPG0|Q4W5Q5|Q8NDS0|Q9H7D1 hg19 CCDS34024.1 0.02 4.267576 CAGxTTT COVERED NOVEL SCD5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252635.1 0 11.135986 KEEP 0 0 0 37 1283 GG 1 0.999996 0 - 6 60 211 0 0 13.740251 109 70 3951 179 ENST00000319540.4 0.052174 0.999997 SCD5 79966 __UNKNOWN__ __UNKNOWN__ 4 83582064 83582064 __UNKNOWN__ Intron SNP G G T rs3733228 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:83582064G>T ENST00000319540.4 - 3 889 SCD5_ENST00000273908.4_Missense_Mutation_p.L246M NM_001037582.2 NP_001032671.2 Q86SK9 SCD5_HUMAN stearoyl-CoA desaturase 5 NA NA fatty acid biosynthetic process (GO:0006633) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768) endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1) 13 Colorectal(4;0.0323)|Hepatocellular(203;0.115) AGAGCACGCAGCATCAAGCAG 0.443 NA G||| 1516 0.302716 0.0794 0.487 5008 , , NA 20298 0.4762 NA 0.2913 False NA ,,, NA NA NA 2504 0.3067 NA NA NA NA 0 G ,MET/LEU 464,3942 219.1+/-236.9 28,408,1767 162 156 158 ,736 3.9 0 4 dbSNP_107 158 2681,5919 430.3+/-356.5 423,1835,2042 yes intron,missense SCD5 NM_001037582.2,NM_024906.2 ,15 451,2243,3809 TT,TG,GG 31.1744,10.5311,24.1811 , ,246/257 83582064 3145,9861 2203 4300 6503 SO:0001627 intron_variant AF389338 CCDS3595.1, CCDS34024.1 4q21.3 2013-01-25 2005-06-09 2005-06-09 ENSG00000145284 ENSG00000145284 79966 Fatty acid desaturases 21088 protein-coding gene gene with protein product 608370 stearoyl-CoA desaturase 4 SCD4 NA 12477932 Standard NM_024906 NM_024906 NA Approved ACOD4, FLJ21032, FADS4, HSCD5 uc003hna.2 Q86SK9 OTTHUMG00000130293 ENST00000319540.4:c.569+19795C>A chr4.hg19:g.83582064G>T NA B2RPG0|Q4W5Q5|Q8NDS0|Q9H7D1 hg19 CCDS34024.1 0.02 16.734866 GCAxCAT COVERED 720 0.32967032967032966 50 0.1016260162601626 163 0.45027624309392267 278 0.486013986013986 229 0.3021108179419525 G 7.902 0.734689 0.15574 0.105311 0.311744 ENSG00000145284 ENST00000273908 . . . 3.92 3.92 0.45320 . . . . . T 0.00012 0.0000 . . . 0.25440 P 0.9881068 P 0.34826 0.471 B 0.40228 0.323 T 0.50457 -0.8826 6 0.62326 D 0.03 . 11.7991 0.52116 0.0:0.0:1.0:0.0 rs3733228;rs52806587;rs61024749;rs3733228 246 Q86SK9-2 . M 246 . ENSP00000273908:L246M L - 1 2 SCD5 83801088 0.005000 0.15991 0.005000 0.12908 0.009000 0.06853 1.546000 0.36179 2.502000 0.84385 0.585000 0.79938 CTG NOVEL SCD5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252635.1 2 35.517389 KEEP 0 0 0 118 4334 GG 1 1 0 - 17 60 614 0 0 38.853568 390 60 14854 659 ENST00000319540.4 0.041769 1 COPS4 51138 __UNKNOWN__ __UNKNOWN__ 4 83966784 83966784 __UNKNOWN__ Missense_Mutation SNP G G A rs201720335 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:83966784G>A ENST00000509093.1 + 2 858 c.80G>A c.(79-81)cGt>cAt p.R27H COPS4_ENST00000264389.2_Missense_Mutation_p.R27H|COPS4_ENST00000511708.1_3'UTR|COPS4_ENST00000511653.1_Missense_Mutation_p.R27H|COPS4_ENST00000503682.1_Missense_Mutation_p.R27H NM_001258006.1 NP_001244935.1 Q9BT78 CSN4_HUMAN COP9 signalosome subunit 4 27 NA cullin deneddylation (GO:0010388)|protein deneddylation (GO:0000338) cell junction (GO:0030054)|COP9 signalosome (GO:0008180)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021) endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2) 13 Hepatocellular(203;0.114) TGTAGGTATCGTCAGATCCTG 0.338 NA G||| 1 0.000199681 0.0 0.0 5008 , , NA 17064 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 107 105 105 NA NA 4 NA 83966784 2203 4300 6503 SO:0001583 missense AF100757 CCDS3600.1, CCDS58909.1 4q21.22 2013-03-14 2013-03-14 ENSG00000138663 ENSG00000138663 51138 16702 protein-coding gene gene with protein product COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 4, COP9 constitutive photomorphogenic homolog subunit 4 (Arabidopsis) NA 9707402 Standard NM_016129 NA Approved CSN4 uc003hoa.3 Q9BT78 OTTHUMG00000130298 ENST00000509093.1:c.80G>A chr4.hg19:g.83966784G>A ENSP00000425976:p.Arg27His NA B3KN88|B3KST5|Q561W7|Q9NW31|Q9Y677 hg19 CCDS58909.1 0.02 6.314323 ATCxTCA COVERED 1 4.578754578754579E-4 0 0.0 0 0.0 1 0.0017482517482517483 0 0.0 G 18.28 3.590014 0.66105 . . ENSG00000138663 ENST00000509093;ENST00000264389;ENST00000503682;ENST00000511653 T;T;T;T 0.48201 0.85;0.86;0.84;0.82 6.03 5.19 0.71726 Tetratricopeptide-like helical (1); 0.058102 0.64402 D 0.000001 T 0.47857 0.1468 L 0.61036 1.89 0.80722 D 1 B;B;B;B 0.22851 0.054;0.076;0.071;0.009 B;B;B;B 0.17098 0.016;0.017;0.007;0.009 T 0.48422 -0.9037 10 0.87932 D 0 -8.2291 15.07 0.72026 0.0674:0.0:0.9326:0.0 . 27;27;27;27 B3KST5;D6RFN0;D6RAX7;Q9BT78 .;.;.;CSN4_HUMAN H 27 ENSP00000425976:R27H;ENSP00000264389:R27H;ENSP00000424791:R27H;ENSP00000424655:R27H ENSP00000264389:R27H R + 2 0 COPS4 84185808 1.000000 0.71417 1.000000 0.80357 0.949000 0.60115 9.271000 0.95698 1.568000 0.49683 0.557000 0.71058 CGT NOVEL COPS4-002 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000363091.1 1 7.458308 KEEP 0 1 32 36 1235 GG 1 1 0 + 8 60 292 0 0 18.656331 180 60 6214 276 ENST00000509093.1 0.042553 1 HELQ 113510 __UNKNOWN__ __UNKNOWN__ 4 84367286 84367286 __UNKNOWN__ Intron SNP G G A rs11099600 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:84367286G>A ENST00000510985.1 - 4 1321 HELQ_ENST00000295488.3_Intron Q8TDG4 HELQ_HUMAN helicase, POLQ-like NA NA double-strand break repair via homologous recombination (GO:0000724) nucleolus (GO:0005730)|nucleus (GO:0005634) ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676) breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2) 38 TCTTCATATAGTGCTCATATA 0.303 NA Other identified genes with known or suspected DNA repair function A||| 2808 0.560703 0.447 0.6196 5008 , , NA 15025 0.6786 NA 0.4871 False NA ,,, NA NA NA 2504 0.6268 NA NA NA NA 0 A 2033,2373 594.6+/-388.3 481,1071,651 47 48 48 0.8 0 4 dbSNP_120 48 4295,4305 572.0+/-389.6 1076,2143,1081 no intron HELQ NM_133636.2 1557,3214,1732 AA,AG,GG 49.9419,46.1416,48.6545 84367286 6328,6678 2203 4300 6503 SO:0001627 intron_variant AF436845 CCDS3603.1, CCDS75158.1 4q21.23 2009-02-26 ENSG00000163312 ENSG00000163312 113510 18536 protein-coding gene gene with protein product 606769 NA 11751861 Standard NM_133636 XM_005262711 NA Approved Hel308 uc003hom.3 Q8TDG4 OTTHUMG00000130423 ENST00000510985.1:c.1192-47C>T chr4.hg19:g.84367286G>A NA Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7 hg19 0.02 6.889468 ATAxTGC COVERED NOVEL HELQ-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000363955.1 1 8.36126 KEEP 0 1 29 38 1342 GG 1 1 0 - 6 60 219 0 0 13.529149 162 60 6008 234 ENST00000510985.1 0.035714 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 85165279 85165279 __UNKNOWN__ IGR SNP G G C rs348702 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:85165279G>C NA NA RNU6-774P (10363 upstream) : RP11-42A4.1 (127266 downstream) NA NA NA GTGCCAATGTGAAATTTCGGA 0.557 NA G||| 1283 0.25619 0.2814 0.2925 5008 , , NA 17990 0.1577 NA 0.3966 False NA ,,, NA NA NA 2504 0.1534 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.85165279G>C NA hg19 0.02 16.491619 TGTxAAA COVERED NOVEL 0 0 13.54339 KEEP 0 0 0 45 1548 GG 1 1 0 16 60 603 0 0 38.953213 374 60 14271 527 0.041026 1 NKX6-1 4825 __UNKNOWN__ __UNKNOWN__ 4 85416793 85416793 __UNKNOWN__ Intron SNP C C T rs117620724 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:85416793C>T ENST00000295886.4 - 2 1065 NKX6-1_ENST00000515820.2_Intron NM_006168.2 NP_006159.2 P78426 NKX61_HUMAN NK6 homeobox 1 NA NA cell proliferation (GO:0008283)|cellular response to cytokine stimulus (GO:0071345)|cellular response to peptide hormone stimulus (GO:0071375)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|negative regulation of glial cell differentiation (GO:0045686)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|organ morphogenesis (GO:0009887)|pancreas development (GO:0031016)|positive regulation of glial cell differentiation (GO:0045687)|positive regulation of insulin secretion (GO:0032024)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of axon extension (GO:0030516)|regulation of neuron migration (GO:2001222)|regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification (GO:0021912)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)|response to drug (GO:0042493)|response to nicotine (GO:0035094)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560) extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1) 15 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.0013) AGGGGCGGTACCTATCCCTCC 0.587 NA C||| 61 0.0121805 0.0 0.0 5008 , , NA 13957 0.0506 NA 0.007 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 C 0,4406 0,0,2203 71 71 71 -3.5 0 4 dbSNP_132 71 7,8593 5.7+/-21.5 0,7,4293 no intron NKX6-1 NM_006168.2 0,7,6496 TT,TC,CC 0.0814,0.0,0.0538 85416793 7,12999 2203 4300 6503 SO:0001627 intron_variant AH007313 CCDS3607.1 4q21.33 2012-03-09 2007-07-09 2002-10-04 ENSG00000163623 ENSG00000163623 4825 Homeoboxes / ANTP class : NKL subclass 7839 protein-coding gene gene with protein product 602563 NK homeobox (Drosophila), family 6, A, NK6 transcription factor related, locus 1 (Drosophila) NKX6A NA 9119408 Standard NM_006168 NM_006168 NA Approved Nkx6.1 uc003hpa.1 P78426 OTTHUMG00000130426 ENST00000295886.4:c.843+31G>A chr4.hg19:g.85416793C>T NA hg19 CCDS3607.1 0.02 8.471116 GTAxCTA COVERED NOVEL NKX6-1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252814.2 2 12.294014 KEEP 0 0 0 41 1422 CC 1 1 0 - 10 60 358 0 0 23.04898 204 70 7004 309 ENST00000295886.4 0.046729 1 CDS1 1040 __UNKNOWN__ __UNKNOWN__ 4 85552882 85552882 __UNKNOWN__ Intron SNP G G T rs41282379 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:85552882G>T ENST00000295887.5 + 6 1003 NM_001263.3 NP_001254.2 O96017 CHK2_HUMAN CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1 NA NA cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351) nucleoplasm (GO:0005654)|PML body (GO:0016605) ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625) breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1) 20 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.00101) GCCTAGCTGTGATACAGCAAA 0.363 NA G||| 886 0.176917 0.0749 0.1239 5008 , , NA 17256 0.1468 NA 0.1948 False NA ,,, NA NA NA 2504 0.365 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U65887 CCDS3608.1 4q21 2008-02-05 ENSG00000163624 ENSG00000163624 1040 2.7.7.41 1800 protein-coding gene gene with protein product 603548 NA 9806839, 9115637 Standard NM_001263 NA Approved uc011ccv.2 Q92903 OTTHUMG00000130428 ENST00000295887.5:c.581-90G>T chr4.hg19:g.85552882G>T NA A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1 hg19 CCDS3608.1 0.02 1.695496 TGTxATA COVERED NOVEL CDS1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252817.2 1 5.71841 KEEP 0 0 0 19 665 GG 0.99986 0.99897 0 + 5 60 173 0 0 11.594311 74 60 2852 110 ENST00000295887.5 0.063291 0.99911 CDS1 1040 __UNKNOWN__ __UNKNOWN__ 4 85570767 85570767 __UNKNOWN__ 3'UTR SNP C C T rs6827228 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:85570767C>T ENST00000295887.5 + 0 2737 NM_001263.3 NP_001254.2 O96017 CHK2_HUMAN CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1 NA NA cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351) nucleoplasm (GO:0005654)|PML body (GO:0016605) ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625) breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1) 20 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.00101) GATGCTTGCCCGAGTGGGAGC 0.567 NA C||| 1050 0.209665 0.1876 0.1311 5008 , , NA 15975 0.1548 NA 0.1988 False NA ,,, NA NA NA 2504 0.363 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U65887 CCDS3608.1 4q21 2008-02-05 ENSG00000163624 ENSG00000163624 1040 2.7.7.41 1800 protein-coding gene gene with protein product 603548 NA 9806839, 9115637 Standard NM_001263 NA Approved uc011ccv.2 Q92903 OTTHUMG00000130428 ENST00000295887.5:c.*928C>T chr4.hg19:g.85570767C>T NA A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1 hg19 CCDS3608.1 0.02 8.154037 GCCxGAG COVERED NOVEL CDS1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252817.2 1 11.871188 KEEP 0 1 30 50 1661 CC 1 1 0 + 10 60 316 0 0 18.885088 217 60 7373 327 ENST00000295887.5 0.044053 1 WDFY3 23001 __UNKNOWN__ __UNKNOWN__ 4 85654590 85654590 __UNKNOWN__ Missense_Mutation SNP A A G rs186418626 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:85654590A>G ENST00000295888.4 - 44 7573 c.7166T>C c.(7165-7167)aTg>aCg p.M2389T WDFY3_ENST00000322366.6_Missense_Mutation_p.M2389T NM_014991.4 NP_055806.2 Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 2389 Sufficient for translocalization to p62 bodies/ALIS. NA aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239) autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605) 1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872) breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) GTTATAAAACATATCATTTCG 0.488 NA A||| 8 0.00159744 0.0 0.0 5008 , , NA 18217 0.0069 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 211 222 218 NA NA 4 NA 85654590 2203 4300 6503 SO:0001583 missense AB023210 CCDS3609.1 4q21.3 2013-01-09 ENSG00000163625 ENSG00000163625 23001 Zinc fingers, FYVE domain containing, WD repeat domain containing 20751 protein-coding gene gene with protein product NA 10231032 Standard NM_014991 NM_014991 NA Approved KIAA0993, ALFY, ZFYVE25 uc003hpd.3 Q8IZQ1 OTTHUMG00000130424 ENST00000295888.4:c.7166T>C chr4.hg19:g.85654590A>G ENSP00000295888:p.Met2389Thr NA Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7 hg19 CCDS3609.1 0.02 17.057891 AACxTAT COVERED 2 9.157509157509158E-4 0 0.0 0 0.0 2 0.0034965034965034965 0 0.0 A 10.14 1.268557 0.23136 . . ENSG00000163625 ENST00000322366;ENST00000295888;ENST00000514711 D;D;T 0.90385 -2.66;-2.66;0.03 5.67 5.67 0.87782 Cyclin-like (1); 0.000000 0.85682 D 0.000000 D 0.85539 0.5720 L 0.36672 1.1 0.80722 D 1 B 0.21381 0.055 B 0.20384 0.029 T 0.81193 -0.1044 10 0.13108 T 0.6 . 15.91 0.79467 1.0:0.0:0.0:0.0 . 2389 Q8IZQ1 WDFY3_HUMAN T 2389;2389;9 ENSP00000318466:M2389T;ENSP00000295888:M2389T;ENSP00000424987:M9T ENSP00000295888:M2389T M - 2 0 WDFY3 85873614 1.000000 0.71417 1.000000 0.80357 0.586000 0.36452 7.576000 0.82467 2.141000 0.66446 0.533000 0.62120 ATG NOVEL WDFY3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252811.2 2 34.30213 KEEP 0 0 0 114 3597 AA 1 1 0 - 21 60 744 0 0 48.074268 406 60 15110 670 ENST00000295888.4 0.04918 1 ARHGAP24 83478 __UNKNOWN__ __UNKNOWN__ 4 86643155 86643155 __UNKNOWN__ Intron SNP A A C rs17010697 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:86643155A>C ENST00000395184.1 + 3 734 ARHGAP24_ENST00000503995.1_Intron|ARHGAP24_ENST00000506421.1_Intron NM_001025616.2 NP_001020787.2 Q8N264 RHG24_HUMAN Rho GTPase activating protein 24 NA NA activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of ruffle assembly (GO:1900028)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|wound healing, spreading of epidermal cells (GO:0035313) cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925) Rac GTPase activator activity (GO:0030675) breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1) 24 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000571) TGATTAAATTATTGTCATCCT 0.378 NA A||| 1436 0.286741 0.298 0.3069 5008 , , NA 19868 0.3323 NA 0.2167 False NA ,,, NA NA NA 2504 0.2822 NA NA NA NA 0 A 1190,3216 413.7+/-336.6 152,886,1165 65 64 64 -3.2 0 4 dbSNP_123 64 1460,7140 277.4+/-292.8 116,1228,2956 no intron ARHGAP24 NM_001025616.2 268,2114,4121 CC,CA,AA 16.9767,27.0086,20.3752 86643155 2650,10356 2203 4300 6503 SO:0001627 intron_variant AK091196 CCDS3611.1, CCDS34025.1, CCDS43246.1 4q22.1 2013-01-10 ENSG00000138639 ENSG00000138639 83478 Rho GTPase activating proteins, Pleckstrin homology (PH) domain containing 25361 protein-coding gene gene with protein product 610586 NA 11230166, 15254788 Standard NM_031305 NM_001042669 NA Approved DKFZP564B1162, FLJ33877, FilGAP uc003hpk.3 Q8N264 OTTHUMG00000130427 ENST00000395184.1:c.268+30A>C chr4.hg19:g.86643155A>C NA Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6 hg19 CCDS34025.1 0.02 19.476847 ATTxTTG COVERED NOVEL ARHGAP24-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252815.2 3 15.639927 KEEP 0 0 0 52 1583 AA 1 1 0 + 14 60 552 0 0 35.349168 398 60 14692 559 ENST00000395184.1 0.033981 1 KLHL8 57563 __UNKNOWN__ __UNKNOWN__ 4 88116518 88116518 __UNKNOWN__ Silent SNP A A G rs74604071 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:88116518A>G ENST00000498875.2 - 2 443 c.174T>C c.(172-174)ctT>ctC p.L58L KLHL8_ENST00000425278.2_Silent_p.L58L|KLHL8_ENST00000545252.1_5'UTR|KLHL8_ENST00000273963.5_Silent_p.L58L|KLHL8_ENST00000512111.1_Silent_p.L58L Q9P2G9 KLHL8_HUMAN kelch-like family member 8 58 NA protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787) Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634) p.L58L(1) breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1) 17 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000603) CATAAAATCGAAGAAGAGAAC 0.363 NA A||| 527 0.105232 0.0688 0.0504 5008 , , NA 18625 0.2163 NA 0.0388 False NA ,,, NA NA NA 2504 0.1472 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) A 255,4151 145.7+/-180.5 10,235,1958 96 97 97 174 -6.6 0.1 4 dbSNP_131 97 222,8378 92.1+/-154.2 4,214,4082 no coding-synonymous KLHL8 NM_020803.3 14,449,6040 GG,GA,AA 2.5814,5.7876,3.6675 58/621 88116518 477,12529 2203 4300 6503 SO:0001819 synonymous_variant AB037799 CCDS3617.1, CCDS75163.1 4q21.3 2013-01-30 2013-01-30 ENSG00000145332 ENSG00000145332 57563 Kelch-like, BTB/POZ domain containing 18644 protein-coding gene gene with protein product 611967 kelch-like 8 (Drosophila) NA Standard XM_005263153 NA Approved KIAA1378 uc003hql.1 Q9P2G9 OTTHUMG00000130593 ENST00000498875.2:c.174T>C chr4.hg19:g.88116518A>G NA Q53XA3|Q6N018 hg19 0.02 2.035297 TCGxAGA COVERED NOVEL KLHL8-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000363203.1 0 3.310229 KEEP 0 0 0 11 355 AA 0.993072 0.985221 0 - 4 60 146 0 0 10.040354 59 60 2086 79 ENST00000498875.2 0.063492 0.992094 PKD2 5311 __UNKNOWN__ __UNKNOWN__ 4 88959381 88959381 __UNKNOWN__ Intron SNP G G A rs2725221 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:88959381G>A ENST00000237596.2 + 4 909 NM_000297.3 NP_000288.1 Q9BZL6 KPCD2_HUMAN polycystic kidney disease 2 (autosomal dominant) NA NA angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674) breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1) 36 Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221) OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237) AACTTTTTCAGAGATGTTTCC 0.458 NA A||| 3487 0.696286 0.947 0.6412 5008 , , NA 19929 0.6558 NA 0.5736 False NA ,,, NA NA NA 2504 0.5644 NA NA NA NA 0 A 3915,491 228.1+/-243.1 1747,421,35 110 117 115 2 0 4 dbSNP_100 115 4661,3939 547.4+/-385.2 1282,2097,921 no intron PKD2 NM_000297.3 3029,2518,956 AA,AG,GG 45.8023,11.1439,34.0612 88959381 8576,4430 2203 4300 6503 SO:0001627 intron_variant U50928 CCDS3627.1 4q22.1 2014-01-28 ENSG00000118762 ENSG00000118762 5311 Voltage-gated ion channels / Transient receptor potential cation channels, EF-hand domain containing 9009 protein-coding gene gene with protein product transient receptor potential cation channel, subfamily P, member 2 173910 NA 8298643 Standard NM_000297 NM_000297 NA Approved PKD4, PC2, Pc-2, TRPP2 uc003hre.3 Q13563 OTTHUMG00000160982 ENST00000237596.2:c.844-22G>A chr4.hg19:g.88959381G>A NA Q8TB08|Q9P0T6|Q9Y3X8 hg19 CCDS3627.1 0.02 6.319744 TCAxAGA COVERED NOVEL PKD2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253042.4 1 8.061247 KEEP 0 1 32 38 1389 GG 1 1 0 + 12 60 424 0 0 29.106947 164 60 6281 256 ENST00000237596.2 0.068182 1 PKD2 5311 __UNKNOWN__ __UNKNOWN__ 4 88997102 88997102 __UNKNOWN__ 3'UTR SNP C C T rs2728121 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:88997102C>T ENST00000237596.2 + 0 3229 NM_000297.3 NP_000288.1 Q9BZL6 KPCD2_HUMAN polycystic kidney disease 2 (autosomal dominant) NA NA angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674) breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1) 36 Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221) OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237) GTGTATTGAGCGGTACGCCCA 0.358 NA T||| 967 0.193091 0.1271 0.1671 5008 , , NA 16834 0.4325 NA 0.0934 False NA ,,, NA NA NA 2504 0.1564 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U50928 CCDS3627.1 4q22.1 2014-01-28 ENSG00000118762 ENSG00000118762 5311 Voltage-gated ion channels / Transient receptor potential cation channels, EF-hand domain containing 9009 protein-coding gene gene with protein product transient receptor potential cation channel, subfamily P, member 2 173910 NA 8298643 Standard NM_000297 NM_000297 NA Approved PKD4, PC2, Pc-2, TRPP2 uc003hre.3 Q13563 OTTHUMG00000160982 ENST00000237596.2:c.*256C>T chr4.hg19:g.88997102C>T NA Q8TB08|Q9P0T6|Q9Y3X8 hg19 CCDS3627.1 0.02 3.911404 GAGxGGT COVERED NOVEL PKD2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253042.4 1 7.523717 KEEP 0 0 0 25 853 CC 0.999931 0.999931 0 + 5 60 172 0 0 10.342918 128 60 4443 181 ENST00000237596.2 0.037594 1 ABCG2 9429 __UNKNOWN__ __UNKNOWN__ 4 89012320 89012320 __UNKNOWN__ 3'UTR SNP A A G rs1448784 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:89012320A>G ENST00000237612.3 - 0 3579 ABCG2_ENST00000515655.1_3'UTR NM_004827.2 NP_004818.2 Q9UNQ0 ABCG2_HUMAN ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group) NA NA cellular iron ion homeostasis (GO:0006879)|drug export (GO:0046618)|drug transmembrane transport (GO:0006855)|embryonic process involved in female pregnancy (GO:0060136)|heme transport (GO:0015886)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urate metabolic process (GO:0046415) apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559) breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 42 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;7.02e-05) Afatinib(DB08916)|Apixaban(DB06605)|Buprenorphine(DB00921)|Cabazitaxel(DB06772)|Carboplatin(DB00958)|Cisplatin(DB00515)|Cladribine(DB00242)|Clofarabine(DB00631)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gefitinib(DB00317)|Glyburide(DB01016)|Hesperetin(DB01094)|Hydrocortisone(DB00741)|Imatinib(DB00619)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Methotrexate(DB00563)|Mitoxantrone(DB01204)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Nilotinib(DB04868)|Nitrofurantoin(DB00698)|Novobiocin(DB01051)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Prazosin(DB00457)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Teniposide(DB00444)|Teriflunomide(DB08880)|Testosterone(DB00624)|Topotecan(DB01030)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vincristine(DB00541)|Vismodegib(DB08828)|Zafirlukast(DB00549)|Zidovudine(DB00495) acaatcttctatttcttgacc 0.343 NA A||| 365 0.0728834 0.0061 0.0303 5008 , , NA 17821 0.256 NA 0.0149 False NA ,,, NA NA NA 2504 0.0644 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF103796 CCDS3628.1, CCDS58910.1 4q22.1 2014-08-27 2014-08-27 ENSG00000118777 ENSG00000118777 9429 CD molecules, ATP binding cassette transporters / subfamily G 74 protein-coding gene gene with protein product 603756 ATP-binding cassette, sub-family G (WHITE), member 2 NA 8894702, 9861027 Standard NM_004827 NM_001257386 NA Approved EST157481, MXR, BCRP, ABCP, CD338 uc003hrg.3 Q9UNQ0 OTTHUMG00000130601 ENST00000237612.3:c.*1066T>C chr4.hg19:g.89012320A>G NA A0A1W3|A8K1T5|O95374|Q4W5I3|Q53ZQ1|Q569L4|Q5YLG4|Q86V64|Q8IX16|Q96LD6|Q96TA8|Q9BY73|Q9NUS0 hg19 CCDS3628.1 0.02 7.297213 TCTxTTT COVERED NOVEL ABCG2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253051.1 4 7.221801 KEEP 0 0 0 24 744 AA 0.999909 0.999909 0 - 10 60 387 0 0 27.037031 157 60 5706 233 ENST00000237612.3 0.05988 1 ABCG2 9429 __UNKNOWN__ __UNKNOWN__ 4 89039500 89039500 __UNKNOWN__ Intron SNP T T C rs2231146 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:89039500T>C ENST00000237612.3 - 7 1235 ABCG2_ENST00000515655.1_Intron NM_004827.2 NP_004818.2 Q9UNQ0 ABCG2_HUMAN ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group) NA NA cellular iron ion homeostasis (GO:0006879)|drug export (GO:0046618)|drug transmembrane transport (GO:0006855)|embryonic process involved in female pregnancy (GO:0060136)|heme transport (GO:0015886)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urate metabolic process (GO:0046415) apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559) breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 42 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;7.02e-05) Afatinib(DB08916)|Apixaban(DB06605)|Buprenorphine(DB00921)|Cabazitaxel(DB06772)|Carboplatin(DB00958)|Cisplatin(DB00515)|Cladribine(DB00242)|Clofarabine(DB00631)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gefitinib(DB00317)|Glyburide(DB01016)|Hesperetin(DB01094)|Hydrocortisone(DB00741)|Imatinib(DB00619)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Methotrexate(DB00563)|Mitoxantrone(DB01204)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Nilotinib(DB04868)|Nitrofurantoin(DB00698)|Novobiocin(DB01051)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Prazosin(DB00457)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Teniposide(DB00444)|Teriflunomide(DB08880)|Testosterone(DB00624)|Topotecan(DB01030)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vincristine(DB00541)|Vismodegib(DB08828)|Zafirlukast(DB00549)|Zidovudine(DB00495) CTTTAGATTGTTTGCTCTAGT 0.294 NA T||| 328 0.0654952 0.0129 0.0403 5008 , , NA 21478 0.2133 NA 0.0189 False NA ,,, NA NA NA 2504 0.0501 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF103796 CCDS3628.1, CCDS58910.1 4q22.1 2014-08-27 2014-08-27 ENSG00000118777 ENSG00000118777 9429 CD molecules, ATP binding cassette transporters / subfamily G 74 protein-coding gene gene with protein product 603756 ATP-binding cassette, sub-family G (WHITE), member 2 NA 8894702, 9861027 Standard NM_004827 NM_001257386 NA Approved EST157481, MXR, BCRP, ABCP, CD338 uc003hrg.3 Q9UNQ0 OTTHUMG00000130601 ENST00000237612.3:c.690-88A>G chr4.hg19:g.89039500T>C NA A0A1W3|A8K1T5|O95374|Q4W5I3|Q53ZQ1|Q569L4|Q5YLG4|Q86V64|Q8IX16|Q96LD6|Q96TA8|Q9BY73|Q9NUS0 hg19 CCDS3628.1 0.02 1.82473 TTGxTTG COVERED NOVEL ABCG2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253051.1 0 2.708617 KEEP 0 0 0 9 303 TT 0.99254 0.992268 0 - 4 60 145 0 0 9.364938 83 60 2960 96 ENST00000237612.3 0.045977 0.999726 HERC3 8916 __UNKNOWN__ __UNKNOWN__ 4 89575324 89575324 __UNKNOWN__ Intron SNP T T A rs2860427 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:89575324T>A ENST00000402738.1 + 7 1016 HERC3_ENST00000264345.3_Intron|HERC3_ENST00000407637.1_Intron NM_001271602.1|NM_014606.1 NP_001258531.1|NP_055421.1 Q15034 HERC3_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 3 NA NA protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787) cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634) ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842) NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2) 45 OV - Ovarian serous cystadenocarcinoma(123;0.000319) GCTGGGGATATGATGGGTGAT 0.393 NA A||| 2740 0.547125 0.8903 0.2853 5008 , , NA 12756 0.5218 NA 0.2575 False NA ,,, NA NA NA 2504 0.593 NA NA NA NA 0 A 3430,976 364.1+/-316.8 1351,728,124 60 59 60 -2.8 0 4 dbSNP_101 60 2234,6366 704.0+/-405.4 293,1648,2359 no intron HERC3 NM_014606.1 1644,2376,2483 AA,AT,TT 25.9767,22.1516,43.5491 89575324 5664,7342 2203 4300 6503 SO:0001627 intron_variant D25215 CCDS34028.1 4q21 2012-02-23 2012-02-23 ENSG00000138641 ENSG00000138641 8916 4876 protein-coding gene gene with protein product 605200 hect domain and RLD 3 NA 10702688 Standard NM_014606 NM_014606 NA Approved KIAA0032 uc003hrw.2 Q15034 OTTHUMG00000150436 ENST00000402738.1:c.777+40T>A chr4.hg19:g.89575324T>A NA A8K1S5|Q8IXX3 hg19 CCDS34028.1 0.02 14.523023 ATAxGAT COVERED NOVEL HERC3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000318081.2 4 21.062491 KEEP 0 0 0 70 2186 TT 1 1 0 + 12 60 464 0 0 30.111299 296 60 11080 468 ENST00000402738.1 0.038961 1 HERC3 8916 __UNKNOWN__ __UNKNOWN__ 4 89576294 89576294 __UNKNOWN__ Intron SNP G G A rs2282594 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:89576294G>A ENST00000402738.1 + 8 1016 HERC3_ENST00000264345.3_Intron|HERC3_ENST00000407637.1_Intron NM_001271602.1|NM_014606.1 NP_001258531.1|NP_055421.1 Q15034 HERC3_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 3 NA NA protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787) cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634) ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842) NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2) 45 OV - Ovarian serous cystadenocarcinoma(123;0.000319) TAAAGATACAGTGAAGTCCTA 0.443 NA G||| 431 0.0860623 0.1036 0.0144 5008 , , NA 20044 0.2401 NA 0.004 False NA ,,, NA NA NA 2504 0.0389 NA NA NA NA 0 G 353,4053 182.2+/-210.1 13,327,1863 243 219 227 1.3 0 4 dbSNP_100 227 42,8558 27.9+/-77.7 0,42,4258 no intron HERC3 NM_014606.1 13,369,6121 AA,AG,GG 0.4884,8.0118,3.0371 89576294 395,12611 2203 4300 6503 SO:0001627 intron_variant D25215 CCDS34028.1 4q21 2012-02-23 2012-02-23 ENSG00000138641 ENSG00000138641 8916 4876 protein-coding gene gene with protein product 605200 hect domain and RLD 3 NA 10702688 Standard NM_014606 NM_014606 NA Approved KIAA0032 uc003hrw.2 Q15034 OTTHUMG00000150436 ENST00000402738.1:c.778-31G>A chr4.hg19:g.89576294G>A NA A8K1S5|Q8IXX3 hg19 CCDS34028.1 0.02 11.436724 ACAxTGA COVERED NOVEL HERC3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000318081.2 2 17.758449 KEEP 0 0 0 59 2136 GG 1 1 0 + 10 60 373 0 0 23.826528 241 60 9190 375 ENST00000402738.1 0.039841 1 HERC3 8916 __UNKNOWN__ __UNKNOWN__ 4 89577214 89577214 __UNKNOWN__ Intron SNP A A T rs2972040 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:89577214A>T ENST00000402738.1 + 9 1308 HERC3_ENST00000264345.3_Intron|HERC3_ENST00000407637.1_Missense_Mutation_p.K366M NM_001271602.1|NM_014606.1 NP_001258531.1|NP_055421.1 Q15034 HERC3_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 3 NA NA protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787) cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634) ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842) NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2) 45 OV - Ovarian serous cystadenocarcinoma(123;0.000319) TGGAATTTAAAGGTATTTTAA 0.388 NA T||| 2239 0.447085 0.652 0.2507 5008 , , NA 20624 0.4861 NA 0.2425 False NA ,,, NA NA NA 2504 0.4796 NA NA NA NA 0 T 2611,1795 522.5+/-370.8 779,1053,371 42 42 42 3.7 0 4 dbSNP_101 42 2103,6497 713.2+/-405.9 254,1595,2451 no intron HERC3 NM_014606.1 1033,2648,2822 TT,TA,AA 24.4535,40.7399,36.2448 89577214 4714,8292 2203 4300 6503 SO:0001627 intron_variant D25215 CCDS34028.1 4q21 2012-02-23 2012-02-23 ENSG00000138641 ENSG00000138641 8916 4876 protein-coding gene gene with protein product 605200 hect domain and RLD 3 NA 10702688 Standard NM_014606 NM_014606 NA Approved KIAA0032 uc003hrw.2 Q15034 OTTHUMG00000150436 ENST00000402738.1:c.1069+28A>T chr4.hg19:g.89577214A>T NA A8K1S5|Q8IXX3 hg19 CCDS34028.1 0.02 16.97783 TAAxGGT COVERED 899 0.4116300366300366 319 0.6483739837398373 91 0.2513812154696133 290 0.506993006993007 199 0.262532981530343 T 9.708 1.156181 0.21454 0.592601 0.244535 ENSG00000138641 ENST00000407637 T 0.45276 0.9 4.92 3.74 0.42951 . . . . . T 0.00012 0.0000 . . . 0.58432 P 1.0000000000287557E-6 B 0.02656 0.0 B 0.01281 0.0 T 0.40794 -0.9544 6 . . . . 6.4809 0.22063 0.1476:0.0:0.1791:0.6733 rs2972040 366 Q8IXX3 . M 366 ENSP00000384005:K366M . K + 2 0 HERC3 89796237 0.021000 0.18746 0.002000 0.10522 0.006000 0.05464 0.086000 0.14935 0.368000 0.24481 -0.257000 0.10917 AAG NOVEL HERC3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000318081.2 3 13.274584 KEEP 0 1 31 55 1765 AA 1 1 0 + 13 60 471 0 0 28.389712 389 60 14178 519 ENST00000402738.1 0.032338 1 HERC3 8916 __UNKNOWN__ __UNKNOWN__ 4 89578140 89578140 __UNKNOWN__ Intron SNP A A T rs2860513 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:89578140A>T ENST00000402738.1 + 9 1308 HERC3_ENST00000264345.3_Intron|HERC3_ENST00000407637.1_3'UTR NM_001271602.1|NM_014606.1 NP_001258531.1|NP_055421.1 Q15034 HERC3_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 3 NA NA protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787) cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634) ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842) NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2) 45 OV - Ovarian serous cystadenocarcinoma(123;0.000319) TTTCTTTTTAAGCCATTTTTT 0.333 NA T||| 2119 0.423123 0.5651 0.2435 5008 , , NA 18975 0.4861 NA 0.2425 False NA ,,, NA NA NA 2504 0.4796 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D25215 CCDS34028.1 4q21 2012-02-23 2012-02-23 ENSG00000138641 ENSG00000138641 8916 4876 protein-coding gene gene with protein product 605200 hect domain and RLD 3 NA 10702688 Standard NM_014606 NM_014606 NA Approved KIAA0032 uc003hrw.2 Q15034 OTTHUMG00000150436 ENST00000402738.1:c.1069+954A>T chr4.hg19:g.89578140A>T NA A8K1S5|Q8IXX3 hg19 CCDS34028.1 0.02 6.584007 TTAxGCC COVERED NOVEL HERC3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000318081.2 1 8.425868 KEEP 0 0 0 28 900 AA 0.999997 0.999997 0 + 12 60 441 0 2 30.683809 168 60 6267 241 ENST00000402738.1 0.066667 1 HERC3 8916 __UNKNOWN__ __UNKNOWN__ 4 89585235 89585235 __UNKNOWN__ Intron SNP A A G rs2972018 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:89585235A>G ENST00000402738.1 + 12 1510 HERC3_ENST00000264345.3_Intron|HERC3_ENST00000543130.1_Intron NM_001271602.1|NM_014606.1 NP_001258531.1|NP_055421.1 Q15034 HERC3_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 3 NA NA protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787) cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634) ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842) NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2) 45 OV - Ovarian serous cystadenocarcinoma(123;0.000319) TTACTTTATTATTGATGCTTA 0.348 NA G||| 2237 0.446685 0.6483 0.2522 5008 , , NA 17699 0.4881 NA 0.2425 False NA ,,, NA NA NA 2504 0.4796 NA NA NA NA 0 G 825,559 236,353,103 102 78 85 -1.4 0 4 dbSNP_101 85 773,2409 98,577,916 no intron HERC3 NM_014606.1 334,930,1019 GG,GA,AA 24.2929,40.3902,34.9978 89585235 1598,2968 692 1591 2283 SO:0001627 intron_variant D25215 CCDS34028.1 4q21 2012-02-23 2012-02-23 ENSG00000138641 ENSG00000138641 8916 4876 protein-coding gene gene with protein product 605200 hect domain and RLD 3 NA 10702688 Standard NM_014606 NM_014606 NA Approved KIAA0032 uc003hrw.2 Q15034 OTTHUMG00000150436 ENST00000402738.1:c.1272-69A>G chr4.hg19:g.89585235A>G NA A8K1S5|Q8IXX3 hg19 CCDS34028.1 0.02 4.674054 ATTxTTG COVERED NOVEL HERC3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000318081.2 1 6.317107 KEEP 0 0 0 21 632 AA 0.999869 0.999869 0 + 7 60 276 0 0 18.942716 130 60 4492 171 ENST00000402738.1 0.051095 1 FAM13A 10144 __UNKNOWN__ __UNKNOWN__ 4 89744242 89744242 __UNKNOWN__ Intron SNP T T C rs2305934 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:89744242T>C ENST00000264344.5 - 8 1215 FAM13A_ENST00000508369.1_5'UTR|FAM13A_ENST00000513837.1_5'UTR|FAM13A_ENST00000395002.2_5'UTR|FAM13A_ENST00000511976.1_Intron|FAM13A_ENST00000503556.1_5'UTR|FAM13A_ENST00000502459.1_Intron NM_014883.3 NP_055698.2 O94988 FA13A_HUMAN family with sequence similarity 13, member A NA NA regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829) GTPase activator activity (GO:0005096) NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 55 CTTCTTACAGTGGCTAAGCTG 0.507 NA T||| 1343 0.268171 0.3654 0.33 5008 , , NA 17195 0.3899 NA 0.1183 False NA ,,, NA NA NA 2504 0.1217 NA NA NA NA 0 T , 410,974 59,292,341 95 73 80 , -5.7 0.1 4 dbSNP_100 80 350,2832 20,310,1261 no utr-5,intron FAM13A NM_001015045.1,NM_014883.2 , 79,602,1602 CC,CT,TT 10.9994,29.6243,16.6448 , , 89744242 760,3806 692 1591 2283 SO:0001627 intron_variant AB020721 CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1 4q22.1 2011-09-07 2009-01-20 2009-01-20 ENSG00000138640 ENSG00000138640 10144 Rho GTPase activating proteins 19367 protein-coding gene gene with protein product 613299 family with sequence similarity 13, member A1 FAM13A1 NA Standard NM_014883 NA Approved KIAA0914, ARHGAP48 uc003hse.2 O94988 OTTHUMG00000161006 ENST00000264344.5:c.1008-18039A>G chr4.hg19:g.89744242T>C NA B4DLC1|Q24JP0|Q5PR21|Q8NBA3 hg19 CCDS34029.1 0.02 25.037476 CAGxGGC COVERED NOVEL FAM13A-022 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000363371.1 4 74.924611 KEEP 0 0 0 249 7819 TT 1 1 0 - 22 60 765 0 0 45.957522 585 60 21351 1039 ENST00000264344.5 0.036244 1 TIGD2 166815 __UNKNOWN__ __UNKNOWN__ 4 90034686 90034686 __UNKNOWN__ Silent SNP A A G rs17015027 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:90034686A>G ENST00000317005.2 + 1 719 c.561A>G c.(559-561)ccA>ccG p.P187P NM_145715.2 NP_663761.1 Q4W5G0 TIGD2_HUMAN tigger transposable element derived 2 187 DDE. NA nucleus (GO:0005634) DNA binding (GO:0003677) breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 14 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;3.86e-05) aatgtctaccaTCAAGGACAT 0.383 NA a||| 1104 0.220447 0.1097 0.2579 5008 , , NA 20280 0.3889 NA 0.2038 False NA ,,, NA NA NA 2504 0.1871 NA NA NA NA 0 622,3784 261.9+/-264.6 44,534,1625 59 63 62 561 -5.5 1 4 dbSNP_123 62 1858,6742 326.4+/-317.4 205,1448,2647 no coding-synonymous TIGD2 NM_145715.2 249,1982,4272 GG,GA,AA 21.6047,14.1171,19.0681 187/526 90034686 2480,10526 2203 4300 6503 SO:0001819 synonymous_variant AK027653 CCDS3633.1 4q21.3 2013-02-21 ENSG00000180346 ENSG00000180346 166815 18333 protein-coding gene gene with protein product 612973 NA Standard NM_145715 NM_145715 NA Approved uc003hsk.3 Q4W5G0 OTTHUMG00000130946 ENST00000317005.2:c.561A>G chr4.hg19:g.90034686A>G NA hg19 CCDS3633.1 0.02 16.357488 ACCxTCA COVERED NOVEL TIGD2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253545.2 2 25.272429 KEEP 0 0 0 84 2614 AA 1 1 0 + 11 60 398 0 0 23.007946 404 60 14748 582 ENST00000317005.2 0.026506 1 PDLIM5 10611 __UNKNOWN__ __UNKNOWN__ 4 95496882 95496882 __UNKNOWN__ Intron SNP C C T rs2452600 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:95496882C>T ENST00000514743.1 + 4 335 PDLIM5_ENST00000542407.1_Missense_Mutation_p.S14F|PDLIM5_ENST00000437932.1_Intron|PDLIM5_ENST00000380180.3_Intron|PDLIM5_ENST00000450793.1_Intron|PDLIM5_ENST00000538141.1_Intron|PDLIM5_ENST00000317968.4_Missense_Mutation_p.S136F|PDLIM5_ENST00000508216.1_Intron|PDLIM5_ENST00000318007.5_Intron NM_001256426.1 NP_001243355 Q96HC4 PDLI5_HUMAN PDZ and LIM domain 5 NA NA regulation of dendritic spine morphogenesis (GO:0061001)|regulation of synapse assembly (GO:0051963) actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211) actin binding (GO:0003779)|actinin binding (GO:0042805)|protein kinase C binding (GO:0005080)|zinc ion binding (GO:0008270) central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 22 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.84e-09) GGTTCTGTGTCTTCACCAAAA 0.527 NA C||| 1125 0.224641 0.1051 0.2378 5008 , , NA 19873 0.378 NA 0.3121 False NA ,,, NA NA NA 2504 0.1288 NA NA NA NA 0 C ,,,PHE/SER 594,3812 261.9+/-264.6 38,518,1647 296 259 271 ,,,407 4.4 1 4 dbSNP_100 271 2668,5932 429.7+/-356.3 434,1800,2066 yes intron,intron,intron,missense PDLIM5 NM_001011513.2,NM_001011515.1,NM_001011516.1,NM_006457.3 ,,,155 472,2318,3713 TT,TC,CC 31.0233,13.4816,25.0807 ,,,possibly-damaging ,,,136/597 95496882 3262,9744 2203 4300 6503 SO:0001627 intron_variant AF061258 CCDS3641.1, CCDS47103.1, CCDS47104.1, CCDS58915.1, CCDS58916.1, CCDS58917.1, CCDS75166.1 4q22 2006-04-12 ENSG00000163110 ENSG00000163110 10611 17468 protein-coding gene gene with protein product 605904 NA 15346770 Standard NM_006457 NA Approved LIM, Enh uc003htk.4 Q96HC4 OTTHUMG00000130973 ENST00000514743.1:c.292-212C>T chr4.hg19:g.95496882C>T NA A8K6F9|D6RB78|E9PBF5|O60705|Q56VN4|Q5UW38|Q8WVK0 hg19 CCDS58916.1 0.02 17.192645 TGTxTTC COVERED 601 0.2751831501831502 43 0.08739837398373984 84 0.23204419889502761 242 0.4230769230769231 232 0.30606860158311344 C 20.8 4.042342 0.75732 0.134816 0.310233 ENSG00000163110 ENST00000317968;ENST00000542407 T;T 0.61627 0.58;0.09 5.25 4.39 0.52855 . 0.343767 0.28865 N 0.013899 T 0.00012 0.0000 L 0.44542 1.39 0.28580 P 0.9101637 P 0.49961 0.93 B 0.42214 0.38 T 0.45086 -0.9285 9 0.56958 D 0.05 . 13.5979 0.62002 0.0:0.9248:0.0:0.0752 rs2452600;rs3792659;rs52807888;rs56704997;rs2452600 136 Q96HC4 PDLI5_HUMAN F 136;14 ENSP00000321746:S136F;ENSP00000442187:S14F ENSP00000321746:S136F S + 2 0 PDLIM5 95715905 1.000000 0.71417 1.000000 0.80357 0.993000 0.82548 2.262000 0.43285 2.590000 0.87494 0.655000 0.94253 TCT NOVEL PDLIM5-010 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000362993.1 4 24.207513 KEEP 0 4 118 122 4263 CC 1 1 0 + 21 60 754 0 0 49.158646 402 60 15298 657 ENST00000514743.1 0.049645 1 BMPR1B 658 __UNKNOWN__ __UNKNOWN__ 4 95710394 95710394 __UNKNOWN__ Intron SNP G G A rs10004956 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:95710394G>A ENST00000515059.1 + 1 101 NM_001203.2 NP_001194.1 O00238 BMR1B_HUMAN bone morphogenetic protein receptor, type IB NA NA BMP signaling pathway (GO:0030509)|cartilage condensation (GO:0001502)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|eye development (GO:0001654)|inflammatory response (GO:0006954)|limb morphogenesis (GO:0035108)|ovarian cumulus expansion (GO:0001550)|ovulation cycle (GO:0042698)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell differentiation (GO:0045597)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of osteoblast differentiation (GO:0045669)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|skeletal system development (GO:0001501) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta receptor activity, type I (GO:0005025)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675) breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.51e-07) cccacttaccgagttttttca 0.403 NA G||| 2768 0.552716 0.5333 0.6369 5008 , , NA 22695 0.6964 NA 0.5487 False NA ,,, NA NA NA 2504 0.3753 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D89675 CCDS3642.1, CCDS58919.1 4q23-q24 2008-02-05 ENSG00000138696 ENSG00000138696 658 CD molecules 1077 protein-coding gene gene with protein product 603248 NA 8140412, 9730621 Standard NM_001203 NM_001203 NA Approved ALK6, CDw293 uc031sgn.1 O00238 OTTHUMG00000130991 ENST00000515059.1:c.-183+31175G>A chr4.hg19:g.95710394G>A NA B2R953|B4DSV1|P78366 hg19 CCDS3642.1 0.02 -0.24564 ACCxAGT COVERED NOVEL BMPR1B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253609.3 0 2.708805 KEEP 0 0 0 9 314 GG 0.99254 0.636563 0 + 3 60 111 1 0 8.391462 25 60 881 49 ENST00000515059.1 0.107143 0.641347 EIF4E 1977 __UNKNOWN__ __UNKNOWN__ 4 99798632 99798632 __UNKNOWN__ 3'UTR SNP C C T rs10433976 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:99798632C>T ENST00000450253.2 - 0 5725 NM_001968.3 NP_001959.1 P06730 IF4E_HUMAN eukaryotic translation initiation factor 4E NA NA cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of mitotic cell cycle (GO:0045931)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032) chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|extracellular vesicular exosome (GO:0070062)|mRNA cap binding complex (GO:0005845)|RISC complex (GO:0016442) poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation initiation factor activity (GO:0003743) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1) 13 OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227) AAAATGTATACGAAAACATGA 0.308 NA T||| 1472 0.29393 0.615 0.2334 5008 , , NA 18809 0.2371 NA 0.1352 False NA ,,, NA NA NA 2504 0.1247 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M15353 CCDS34031.1, CCDS47109.1, CCDS54779.1 4q21-q25 2008-02-05 ENSG00000151247 ENSG00000151247 1977 3287 protein-coding gene gene with protein product 133440 EIF4EL1, EIF4F NA 9330633, 1916814 Standard NM_001968 NM_001968 NA Approved EIF4E1 uc011cea.1 P06730 OTTHUMG00000161090 ENST00000450253.2:c.*3547G>A chr4.hg19:g.99798632C>T NA B7Z6V1|D6RCQ6|Q96E95 hg19 CCDS34031.1 0.02 6.346306 ATAxGAA COVERED NOVEL EIF4E-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000363739.1 0 6.018229 KEEP 0 0 0 20 646 CC 0.999863 0.999863 0 - 7 60 258 0 0 16.417101 166 60 5767 216 ENST00000450253.2 0.040462 1 ADH7 131 __UNKNOWN__ __UNKNOWN__ 4 100356466 100356466 __UNKNOWN__ 5'UTR SNP A A G rs17537595 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:100356466A>G ENST00000437033.2 - 0 428 ADH7_ENST00000209665.4_5'UTR P40394 ADH7_HUMAN alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide NA NA ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|extracellular negative regulation of signal transduction (GO:1900116)|fatty acid omega-oxidation (GO:0010430)|oxidation-reduction process (GO:0055114)|response to bacterium (GO:0009617)|response to ethanol (GO:0045471)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805) cytosol (GO:0005829)|extracellular region (GO:0005576) alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|aldehyde oxidase activity (GO:0004031)|ethanol binding (GO:0035276)|receptor antagonist activity (GO:0048019)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270) breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1) 19 OV - Ovarian serous cystadenocarcinoma(123;1.75e-08) TCTGTTGTATATAACAGCAGC 0.443 NA A||| 513 0.102436 0.0265 0.072 5008 , , NA 21246 0.1349 NA 0.1481 False NA ,,, NA NA NA 2504 0.1462 NA NA NA NA 0 A 180,4226 116.7+/-154.6 4,172,2027 136 118 124 -0.9 0 4 dbSNP_123 124 1194,7406 234.2+/-267.2 77,1040,3183 no utr-5 ADH7 NM_000673.4 81,1212,5210 GG,GA,AA 13.8837,4.0853,10.5644 100356466 1374,11632 2203 4300 6503 SO:0001623 5_prime_UTR_variant X76342 CCDS34034.1, CCDS54781.1 4q23-q24 2008-02-05 ENSG00000196344 ENSG00000196344 131 1.1.1.1 Alcohol dehydrogenases 256 protein-coding gene gene with protein product 600086 NA 8195208 Standard NM_000673 NM_000673 NA Approved ADH-4 uc021xqj.1 P40394 OTTHUMG00000159318 ENST00000437033.2:c.-76T>C chr4.hg19:g.100356466A>G NA A2RRB6|A8MVN9|B2R760|B4DWV6|Q13713 hg19 0.02 20.239317 TATxTAA COVERED NOVEL ADH7-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000354562.1 1 14.5775 KEEP 0 1 36 61 1874 AA 1 1 0 - 17 60 644 0 0 40.364462 479 60 17494 643 ENST00000437033.2 0.034274 1 RP11-766F14.2 0 __UNKNOWN__ __UNKNOWN__ 4 100575714 100575714 __UNKNOWN__ Missense_Mutation SNP C C T rs187649941 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:100575714C>T ENST00000511828.1 - 1 91 c.92G>A c.(91-93)cGa>cAa p.R31Q NA NA NA CTGGCACCGTCGGCAGCAGCG 0.592 NA C||| 87 0.0173722 0.0 0.0 5008 , , NA 17865 0.0863 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense NA NA NA NA ENST00000511828.1:c.92G>A chr4.hg19:g.100575714C>T ENSP00000427555:p.Arg31Gln NA hg19 0.02 8.266103 CGTxGGC COVERED 14 0.00641025641025641 0 0.0 0 0.0 14 0.024475524475524476 0 0.0 C 1.456 -0.563790 0.03939 . . ENSG00000248713 ENST00000511828 T 0.37584 1.19 4.81 0.293 0.15742 . . . . . T 0.12263 0.0298 N 0.08118 0 . . . . . . . . . T 0.32929 -0.9888 6 0.87932 D 0 . 11.5871 0.50925 0.0:0.2653:0.6525:0.0822 . . . . Q 31 ENSP00000427555:R31Q ENSP00000427555:R31Q R - 2 0 RP11-766F14.2 100794737 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 0.047000 0.14056 -0.214000 0.10078 -0.218000 0.12543 CGA NOVEL RP11-766F14.2-001 PUTATIVE basic|appris_principal|exp_conf protein_coding NA protein_coding OTTHUMT00000365456.1 2 38.769459 KEEP 0 0 0 129 4326 CC 1 1 0 - 7 60 255 0 0 15.135543 231 60 8017 497 ENST00000511828.1 0.029412 1 DDIT4L 115265 __UNKNOWN__ __UNKNOWN__ 4 101108332 101108332 __UNKNOWN__ 3'UTR SNP C C T rs10007201 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:101108332C>T ENST00000273990.2 - 0 1298 RP11-15B17.1_ENST00000515026.1_RNA NM_145244.3 NP_660287.1 Q96D03 DDT4L_HUMAN DNA-damage-inducible transcript 4-like NA NA negative regulation of signal transduction (GO:0009968) cytoplasm (GO:0005737) breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(2) 12 OV - Ovarian serous cystadenocarcinoma(123;5.75e-09) TAATCCTACCCTCCTGTCTAA 0.363 NA C||| 1538 0.307109 0.444 0.2262 5008 , , NA 18517 0.1925 NA 0.2873 False NA ,,, NA NA NA 2504 0.318 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC013592 CCDS34036.1 4q23 2008-02-05 ENSG00000145358 115265 30555 protein-coding gene gene with protein product regulated in development and DNA damage response 2, similar to Smhs1 protein 607730 NA 12477932 Standard NM_145244 NM_145244 NA Approved REDD2, Rtp801L uc003hvq.3 Q96D03 ENST00000273990.2:c.*502G>A chr4.hg19:g.101108332C>T NA B2R7C3 hg19 CCDS34036.1 0.02 1.910273 ACCxTCC COVERED NOVEL DDIT4L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000363423.1 0 6.320654 KEEP 0 0 0 21 757 CC 0.999869 0.999832 0 - 5 60 176 0 0 11.373269 95 60 3631 152 ENST00000273990.2 0.05 0.999962 EMCN 51705 __UNKNOWN__ __UNKNOWN__ 4 101331343 101331343 __UNKNOWN__ Intron SNP C C T rs67832221 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:101331343C>T ENST00000296420.4 - 11 1004 EMCN_ENST00000511970.1_Intron|EMCN_ENST00000305864.3_Intron NM_001159694.1|NM_016242.3 NP_001153166.1|NP_057326.2 Q9ULC0 MUCEN_HUMAN endomucin NA NA extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(123;2.49e-08) CATTAGCTTTCCAGCTTTTGA 0.328 NA T||| 2137 0.426717 0.4365 0.4294 5008 , , NA 20100 0.7867 NA 0.1481 False NA ,,, NA NA NA 2504 0.3272 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF205940 CCDS3655.1, CCDS54782.1 4q22.1 2008-02-05 ENSG00000164035 ENSG00000164035 51705 Mucins 16041 protein-coding gene gene with protein product 608350 NA 11418125, 11594763 Standard NM_016242 NM_016242 NA Approved MUC14 uc003hvr.3 Q9ULC0 OTTHUMG00000131051 ENST00000296420.4:c.783+95G>A chr4.hg19:g.101331343C>T NA A8K716|B4E347|Q8NEY5|Q8WWE7|Q9NRM8 hg19 CCDS3655.1 0.02 9.009471 TTTxCAG COVERED NOVEL EMCN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253699.2 1 9.329478 KEEP 0 0 0 31 1036 CC 0.999997 0.999997 0 - 9 60 307 0 0 17.603725 280 60 10406 337 ENST00000296420.4 0.031142 1 SLC9B1 150159 __UNKNOWN__ __UNKNOWN__ 4 103827966 103827966 __UNKNOWN__ Intron SNP T T A rs537040561 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:103827966T>A ENST00000296422.7 - 10 1228 SLC9B1_ENST00000512651.2_Intron|SLC9B1_ENST00000394789.3_Intron NM_139173.3 NP_631912 Q4ZJI4 SL9B1_HUMAN solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1 NA NA ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) solute:proton antiporter activity (GO:0015299) NA tagctcactgtagccttgaac 0.438 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF447585 CCDS34041.1, CCDS47119.1 4q24 2013-05-22 2012-03-22 2011-07-26 ENSG00000164037 ENSG00000164037 150159 Solute carriers 24244 protein-coding gene gene with protein product 611527 Na+/H+ exchanger domain containing 1, solute carrier family 9, subfamily B (cation proton antiporter 2), member 1 NHEDC1 NA 16850186 Standard NM_139173 NM_139173 NA Approved NHA1 uc003hww.3 Q4ZJI4 OTTHUMG00000161114 ENST00000296422.7:c.1087-165A>T chr4.hg19:g.103827966T>A NA A1KXV1|B9EH04|C9JBP7|Q49A30|Q8NCV2|Q8WVZ0 hg19 CCDS34041.1 0.02 -0.043865 CTGxAGC UNCOVERED NOVEL SLC9B1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000363841.1 2 2.407282 KEEP 1 0 0 8 249 TT 0 0 0 - 2 24 72 0 0 6.950087 2 60 71 16 ENST00000296422.7 0.5 0.024074 SLC9B2 133308 __UNKNOWN__ __UNKNOWN__ 4 103964529 103964529 __UNKNOWN__ Missense_Mutation SNP A A C rs2276976 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:103964529A>C ENST00000503103.1 - 8 1089 c.899T>G c.(898-900)tTt>tGt p.F300C SLC9B2_ENST00000362026.3_Missense_Mutation_p.F357C|SLC9B2_ENST00000503230.1_Missense_Mutation_p.F300C|SLC9B2_ENST00000394785.3_Missense_Mutation_p.F357C|SLC9B2_ENST00000339611.4_Missense_Mutation_p.F357C Q86UD5 SL9B2_HUMAN solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2 357 NA ion transmembrane transport (GO:0034220)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743) solute:proton antiporter activity (GO:0015299) NA AGGGAAACCAAAATGCACACT 0.438 NA A||| 719 0.14357 0.062 0.1628 5008 , , NA 17381 0.1806 NA 0.1064 False NA ,,, NA NA NA 2504 0.2403 NA NA NA NA 0 A CYS/PHE 264,4142 148.0+/-182.4 6,252,1945 154 120 131 1070 5.9 0.1 4 dbSNP_100 131 996,7604 215.2+/-254.6 62,872,3366 yes missense SLC9B2 NM_178833.4 205 68,1124,5311 CC,CA,AA 11.5814,5.9918,9.6878 benign 357/538 103964529 1260,11746 2203 4300 6503 SO:0001583 missense AK172823 CCDS3662.1, CCDS75173.1, CCDS75174.1 4q24 2013-05-22 2012-03-22 2011-08-03 ENSG00000164038 ENSG00000164038 133308 Solute carriers 25143 protein-coding gene gene with protein product 611789 Na+/H+ exchanger domain containing 2, solute carrier family 9, subfamily B (cation proton antiporter 2), member 2 NHEDC2 NA 18600791 Standard NM_178833 XM_005262758 NA Approved FLJ23984, NHA2 uc003hwy.3 Q86UD5 OTTHUMG00000131125 ENST00000503103.1:c.899T>G chr4.hg19:g.103964529A>C ENSP00000425385:p.Phe300Cys NA B5ME52|Q6ZMD8|Q96D95 hg19 0.02 18.824913 CCAxAAT COVERED 265 0.12133699633699634 40 0.08130081300813008 59 0.16298342541436464 92 0.16083916083916083 74 0.09762532981530343 A 15.72 2.917232 0.52546 0.059918 0.115814 ENSG00000164038 ENST00000362026;ENST00000506288;ENST00000339611;ENST00000394785;ENST00000503103;ENST00000503230 T;T;T;T;T;T 0.16597 2.33;2.33;2.33;2.33;2.33;2.33 5.93 5.93 0.95920 . 0.534116 0.21999 N 0.066029 T 0.00178 0.0005 M 0.70275 2.135 0.24182 P 0.9955815 D;P;D;D 0.65815 0.995;0.909;0.967;0.992 D;P;P;P 0.63113 0.911;0.895;0.818;0.863 T 0.00259 -1.1870 9 0.38643 T 0.18 -14.1416 16.3871 0.83514 1.0:0.0:0.0:0.0 rs2276976;rs52829275;rs57944708;rs2276976 300;300;357;357 B7Z676;E9PE63;Q86UD5-2;Q86UD5 .;.;.;SL9B2_HUMAN C 357;257;357;357;300;300 ENSP00000354574:F357C;ENSP00000421943:F257C;ENSP00000345241:F357C;ENSP00000378265:F357C;ENSP00000425385:F300C;ENSP00000422477:F300C ENSP00000345241:F357C F - 2 0 SLC9B2 104183978 1.000000 0.71417 0.061000 0.19648 0.991000 0.79684 6.434000 0.73408 2.270000 0.75569 0.482000 0.46254 TTT NOVEL SLC9B2-004 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000363236.1 0 26.479975 KEEP 0 0 0 88 2794 AA 1 1 0 - 11 60 435 0 0 26.652398 408 60 14831 632 ENST00000503103.1 0.026253 1 BDH2 56898 __UNKNOWN__ __UNKNOWN__ 4 104000922 104000922 __UNKNOWN__ Intron SNP T T C rs12508269 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:104000922T>C ENST00000296424.4 - 10 805 NM_020139.3 NP_064524.3 Q9BUT1 BDH2_HUMAN 3-hydroxybutyrate dehydrogenase, type 2 NA NA epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|heme metabolic process (GO:0042168)|iron ion homeostasis (GO:0055072)|siderophore biosynthetic process (GO:0019290) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062) 3-hydroxybutyrate dehydrogenase activity (GO:0003858)|NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628) breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1) 10 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.02e-08) ACTGCAGTGATAAACACAAGG 0.423 NA T||| 595 0.11881 0.0061 0.1354 5008 , , NA 20384 0.1567 NA 0.1074 False NA ,,, NA NA NA 2504 0.2321 NA NA NA NA 0 T 101,4305 78.3+/-116.7 1,99,2103 129 111 117 -10.7 0 4 dbSNP_120 117 921,7679 203.8+/-246.7 60,801,3439 no intron BDH2 NM_020139.3 61,900,5542 CC,CT,TT 10.7093,2.2923,7.8579 104000922 1022,11984 2203 4300 6503 SO:0001627 intron_variant AF164790 CCDS3663.1 4q24 2011-09-14 ENSG00000164039 ENSG00000164039 56898 1.1.1.30 Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1 32389 protein-coding gene gene with protein product short chain dehydrogenase/reductase family 15C, member 1 dehydrogenase/reductase (SDR family) member 6 DHRS6 NA 16380372, 19027726 Standard NM_020139 XM_005263140 NA Approved UCPA-OR, FLJ13261, UNQ6308, PRO20933, SDR15C1 uc003hwz.3 Q9BUT1 OTTHUMG00000074039 ENST00000296424.4:c.685-10A>G chr4.hg19:g.104000922T>C NA A8K295|B4DUF6|Q503A0|Q6IA46|Q6UWD3|Q9H8S8|Q9NRX8 hg19 CCDS3663.1 0.02 11.775921 TGAxAAA COVERED NOVEL BDH2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000157159.2 3 14.44235 KEEP 0 0 0 48 1497 TT 1 1 0 - 15 60 554 0 0 36.959773 277 60 10001 378 ENST00000296424.4 0.05137 1 BDH2 56898 __UNKNOWN__ __UNKNOWN__ 4 104000973 104000973 __UNKNOWN__ Intron SNP G G C rs12504262 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:104000973G>C ENST00000296424.4 - 10 805 NM_020139.3 NP_064524.3 Q9BUT1 BDH2_HUMAN 3-hydroxybutyrate dehydrogenase, type 2 NA NA epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|heme metabolic process (GO:0042168)|iron ion homeostasis (GO:0055072)|siderophore biosynthetic process (GO:0019290) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062) 3-hydroxybutyrate dehydrogenase activity (GO:0003858)|NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628) breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1) 10 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.02e-08) GCTGTATTTTGAAATTTTCCT 0.368 NA C||| 1337 0.266973 0.3654 0.232 5008 , , NA 21400 0.1617 NA 0.2078 False NA ,,, NA NA NA 2504 0.3282 NA NA NA NA 0 C 437,947 58,321,313 96 83 87 -5.5 0 4 dbSNP_120 87 645,2537 66,513,1012 no intron BDH2 NM_020139.3 124,834,1325 CC,CG,GG 20.2703,31.5751,23.6969 104000973 1082,3484 692 1591 2283 SO:0001627 intron_variant AF164790 CCDS3663.1 4q24 2011-09-14 ENSG00000164039 ENSG00000164039 56898 1.1.1.30 Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1 32389 protein-coding gene gene with protein product short chain dehydrogenase/reductase family 15C, member 1 dehydrogenase/reductase (SDR family) member 6 DHRS6 NA 16380372, 19027726 Standard NM_020139 XM_005263140 NA Approved UCPA-OR, FLJ13261, UNQ6308, PRO20933, SDR15C1 uc003hwz.3 Q9BUT1 OTTHUMG00000074039 ENST00000296424.4:c.685-61C>G chr4.hg19:g.104000973G>C NA A8K295|B4DUF6|Q503A0|Q6IA46|Q6UWD3|Q9H8S8|Q9NRX8 hg19 CCDS3663.1 0.02 6.968053 TTTxAAA COVERED NOVEL BDH2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000157159.2 2 9.932185 KEEP 0 0 0 33 1163 GG 0.999998 0.999998 0 - 9 60 346 0 0 23.876827 150 60 5657 230 ENST00000296424.4 0.056604 1 BDH2 56898 __UNKNOWN__ __UNKNOWN__ 4 104003993 104003993 __UNKNOWN__ Intron SNP A A C rs56412006 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:104003993A>C ENST00000296424.4 - 8 712 NM_020139.3 NP_064524.3 Q9BUT1 BDH2_HUMAN 3-hydroxybutyrate dehydrogenase, type 2 NA NA epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|heme metabolic process (GO:0042168)|iron ion homeostasis (GO:0055072)|siderophore biosynthetic process (GO:0019290) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062) 3-hydroxybutyrate dehydrogenase activity (GO:0003858)|NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628) breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1) 10 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.02e-08) ATTTATTAACAAAAGGTTTAA 0.383 NA C||| 1365 0.272564 0.3873 0.2334 5008 , , NA 18965 0.1597 NA 0.2087 False NA ,,, NA NA NA 2504 0.3272 NA NA NA NA 0 C 1472,2934 247,978,978 100 102 101 3.6 0 4 dbSNP_129 101 1703,6897 181,1341,2778 no intron BDH2 NM_020139.3 428,2319,3756 CC,CA,AA 19.8023,33.409,24.4118 104003993 3175,9831 2203 4300 6503 SO:0001627 intron_variant AF164790 CCDS3663.1 4q24 2011-09-14 ENSG00000164039 ENSG00000164039 56898 1.1.1.30 Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1 32389 protein-coding gene gene with protein product short chain dehydrogenase/reductase family 15C, member 1 dehydrogenase/reductase (SDR family) member 6 DHRS6 NA 16380372, 19027726 Standard NM_020139 XM_005263140 NA Approved UCPA-OR, FLJ13261, UNQ6308, PRO20933, SDR15C1 uc003hwz.3 Q9BUT1 OTTHUMG00000074039 ENST00000296424.4:c.591+34T>G chr4.hg19:g.104003993A>C NA A8K295|B4DUF6|Q503A0|Q6IA46|Q6UWD3|Q9H8S8|Q9NRX8 hg19 CCDS3663.1 0.02 10.266775 AACxAAA COVERED NOVEL BDH2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000157159.2 0 15.045651 KEEP 0 0 0 50 1588 AA 1 1 0 - 8 60 290 0 0 17.025318 274 60 10027 364 ENST00000296424.4 0.028369 1 BDH2 56898 __UNKNOWN__ __UNKNOWN__ 4 104013040 104013040 __UNKNOWN__ Intron SNP G G C rs12506157 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:104013040G>C ENST00000296424.4 - 5 369 NM_020139.3 NP_064524.3 Q9BUT1 BDH2_HUMAN 3-hydroxybutyrate dehydrogenase, type 2 NA NA epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|heme metabolic process (GO:0042168)|iron ion homeostasis (GO:0055072)|siderophore biosynthetic process (GO:0019290) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062) 3-hydroxybutyrate dehydrogenase activity (GO:0003858)|NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628) breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1) 10 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.02e-08) ACAAGTGTCTGAACATCTCAG 0.403 NA C||| 1267 0.252995 0.3495 0.2176 5008 , , NA 21652 0.1548 NA 0.1829 False NA ,,, NA NA NA 2504 0.3211 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF164790 CCDS3663.1 4q24 2011-09-14 ENSG00000164039 ENSG00000164039 56898 1.1.1.30 Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1 32389 protein-coding gene gene with protein product short chain dehydrogenase/reductase family 15C, member 1 dehydrogenase/reductase (SDR family) member 6 DHRS6 NA 16380372, 19027726 Standard NM_020139 XM_005263140 NA Approved UCPA-OR, FLJ13261, UNQ6308, PRO20933, SDR15C1 uc003hwz.3 Q9BUT1 OTTHUMG00000074039 ENST00000296424.4:c.249-598C>G chr4.hg19:g.104013040G>C NA A8K295|B4DUF6|Q503A0|Q6IA46|Q6UWD3|Q9H8S8|Q9NRX8 hg19 CCDS3663.1 0.02 2.106657 TCTxAAC COVERED NOVEL BDH2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000157159.2 0 7.824596 KEEP 0 0 0 26 862 GG 0.999957 0.999761 0 - 6 60 230 0 0 16.321157 83 60 3101 115 ENST00000296424.4 0.067416 0.999804 TET2 54790 __UNKNOWN__ __UNKNOWN__ 4 106159006 106159006 __UNKNOWN__ 3'UTR SNP A A G rs573271926 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:106159006A>G ENST00000305737.2 + 0 4311 TET2_ENST00000545826.1_Intron|TET2_ENST00000394764.1_3'UTR|TET2_ENST00000413648.2_Intron|TET2_ENST00000380013.4_Intron|TET2_ENST00000513237.1_Intron|TET2_ENST00000540549.1_Intron NM_017628.4 NP_060098.3 Q6N021 TET2_HUMAN tet methylcytosine dioxygenase 2 NA NA 5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493) DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270) NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 1314 Myeloproliferative disorder(5;0.0393) OV - Ovarian serous cystadenocarcinoma(123;7.18e-08) GGGGGAAATGATAATGCTGAC 0.284 NA Mis N, F MDS A||| 1 0.000199681 0.0 0.0 5008 , , NA 15511 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA Rec yes 4 4q24 54790 tet oncogene family member 2 L 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB046766 CCDS3666.1, CCDS47120.1 4q24 2014-09-17 2011-09-30 2008-03-12 ENSG00000168769 ENSG00000168769 54790 25941 protein-coding gene gene with protein product 612839 KIAA1546, tet oncogene family member 2 KIAA1546 NA 10997877, 12646957 Standard NM_017628 NM_017628 NA Approved FLJ20032 uc003hxk.3 Q6N021 OTTHUMG00000131213 ENST00000305737.2:c.*409A>G chr4.hg19:g.106159006A>G NA B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0 hg19 CCDS3666.1 0.02 10.193076 ATGxTAA COVERED NOVEL TET2-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000253951.1 3 12.638744 KEEP 0 0 0 42 1342 AA 1 1 0 + 11 60 402 0 0 25.328456 268 60 9942 413 ENST00000305737.2 0.039427 1 AIMP1 9255 __UNKNOWN__ __UNKNOWN__ 4 107253063 107253063 __UNKNOWN__ Intron SNP C C T rs3109956 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:107253063C>T ENST00000442366.1 + 5 655 AIMP1_ENST00000358008.3_Intron|AIMP1_ENST00000394701.4_Intron NM_001142415.1 NP_001135887.1 Q12904 AIMP1_HUMAN aminoacyl tRNA synthetase complex-interacting multifunctional protein 1 NA NA angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|inflammatory response (GO:0006954)|leukocyte migration (GO:0050900)|negative regulation of endothelial cell proliferation (GO:0001937)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|tRNA aminoacylation for protein translation (GO:0006418) aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634) cytokine activity (GO:0005125)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049) breast(1)|endometrium(2)|kidney(1)|lung(5)|skin(1)|urinary_tract(1) 11 ACTGAAATTCCTGTTGTGTAC 0.398 NA C||| 576 0.115016 0.0023 0.1254 5008 , , NA 16129 0.2907 NA 0.008 False NA ,,, NA NA NA 2504 0.1892 NA NA NA NA 0 C ,, 27,4379 30.8+/-60.4 0,27,2176 108 95 99 ,, -2.1 0 4 dbSNP_103 99 64,8536 25.7+/-73.6 1,62,4237 no intron,intron,intron AIMP1 NM_001142415.1,NM_001142416.1,NM_004757.3 ,, 1,89,6413 TT,TC,CC 0.7442,0.6128,0.6997 ,, ,, 107253063 91,12915 2203 4300 6503 SO:0001627 intron_variant U10117 CCDS3674.1, CCDS47121.1 4q24 2009-05-20 2009-05-20 2009-05-20 ENSG00000164022 ENSG00000164022 9255 10648 protein-coding gene gene with protein product EMAP II, ARS-interacting multifunctional protein 1 603605 small inducible cytokine subfamily E, member 1 (endothelial monocyte-activating) SCYE1 NA 7929199, 7545917 Standard NM_004757 NM_004757 NA Approved EMAPII, EMAP-2, p43 uc011cfg.2 Q12904 OTTHUMG00000131217 ENST00000442366.1:c.603+23C>T chr4.hg19:g.107253063C>T NA B3KTR2|B4E1S7|Q6FG28|Q96CQ9 hg19 CCDS3674.1 0.02 1.664082 TTCxTGT COVERED NOVEL AIMP1-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253961.1 1 2.708889 KEEP 0 0 0 9 322 CC 0.99254 0.992448 0 + 7 60 247 0 0 17.224811 87 60 3228 110 ENST00000442366.1 0.074468 0.999907 AIMP1 9255 __UNKNOWN__ __UNKNOWN__ 4 107258227 107258227 __UNKNOWN__ Intron SNP C C T rs3109954 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:107258227C>T ENST00000442366.1 + 6 824 AIMP1_ENST00000358008.3_Intron|AIMP1_ENST00000394701.4_Intron NM_001142415.1 NP_001135887.1 Q12904 AIMP1_HUMAN aminoacyl tRNA synthetase complex-interacting multifunctional protein 1 NA NA angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|inflammatory response (GO:0006954)|leukocyte migration (GO:0050900)|negative regulation of endothelial cell proliferation (GO:0001937)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|tRNA aminoacylation for protein translation (GO:0006418) aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634) cytokine activity (GO:0005125)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049) breast(1)|endometrium(2)|kidney(1)|lung(5)|skin(1)|urinary_tract(1) 11 TTAATAGTTTCGGAATCAGTT 0.328 NA c||| 650 0.129792 0.0189 0.1556 5008 , , NA 19584 0.2907 NA 0.0388 False NA ,,, NA NA NA 2504 0.1892 NA NA NA NA 0 T ,, 107,4299 80.4+/-118.8 0,107,2096 56 57 57 ,, -0.1 0 4 dbSNP_103 57 259,8341 98.4+/-159.9 7,245,4048 no intron,intron,intron AIMP1 NM_001142415.1,NM_001142416.1,NM_004757.3 ,, 7,352,6144 TT,TC,CC 3.0116,2.4285,2.8141 ,, ,, 107258227 366,12640 2203 4300 6503 SO:0001627 intron_variant U10117 CCDS3674.1, CCDS47121.1 4q24 2009-05-20 2009-05-20 2009-05-20 ENSG00000164022 ENSG00000164022 9255 10648 protein-coding gene gene with protein product EMAP II, ARS-interacting multifunctional protein 1 603605 small inducible cytokine subfamily E, member 1 (endothelial monocyte-activating) SCYE1 NA 7929199, 7545917 Standard NM_004757 NM_004757 NA Approved EMAPII, EMAP-2, p43 uc011cfg.2 Q12904 OTTHUMG00000131217 ENST00000442366.1:c.772+33C>T chr4.hg19:g.107258227C>T NA B3KTR2|B4E1S7|Q6FG28|Q96CQ9 hg19 CCDS3674.1 0.02 6.295868 TTTxGGA COVERED NOVEL AIMP1-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253961.1 1 8.123496 KEEP 0 0 0 27 867 CC 0.999988 0.999988 0 + 8 60 295 0 0 19.617653 148 60 4903 208 ENST00000442366.1 0.051282 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 108654167 108654167 __UNKNOWN__ IGR SNP C C G rs13123947 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:108654167C>G NA NA PAPSS1 (12559 upstream) : SGMS2 (91551 downstream) NA NA NA ggtcttctccctaacctggag 0.438 NA C||| 652 0.130192 0.0076 0.1441 5008 , , NA 20063 0.2887 NA 0.1332 False NA ,,, NA NA NA 2504 0.1196 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.108654167C>G NA hg19 0.02 -0.368472 TCCxTAA COVERED NOVEL 0 0 4.213794 KEEP 0 0 0 14 498 CC 0.995343 0.895126 0 3 60 103 0 0 7.039941 39 60 1431 68 0.071429 0.899314 SGMS2 166929 __UNKNOWN__ __UNKNOWN__ 4 108824329 108824329 __UNKNOWN__ Intron SNP G G C rs9998675 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:108824329G>C ENST00000394684.4 + 5 1130 SGMS2_ENST00000359079.4_Intron|RP11-286E11.1_ENST00000513071.1_RNA|SGMS2_ENST00000394686.3_Intron|RP11-286E11.1_ENST00000499098.1_RNA NM_001136258.1 NP_001129730.1 Q8NHU3 SMS2_HUMAN sphingomyelin synthase 2 NA NA small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686) Golgi apparatus (GO:0005794)|integral component of cell outer membrane (GO:0045203)|integral component of Golgi membrane (GO:0030173)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) ceramide cholinephosphotransferase activity (GO:0047493)|kinase activity (GO:0016301)|sphingomyelin synthase activity (GO:0033188) central_nervous_system(1)|endometrium(2)|large_intestine(8)|liver(2)|lung(6)|prostate(1) 20 OV - Ovarian serous cystadenocarcinoma(123;2.95e-05) CACACAATTAGACTGAAACAT 0.378 NA G||| 296 0.0591054 0.1407 0.0375 5008 , , NA 17447 0.0268 NA 0.0437 False NA ,,, NA NA NA 2504 0.0133 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC041369 CCDS3677.1 4q25 2008-02-05 ENSG00000164023 ENSG00000164023 166929 2.7.8.27 28395 protein-coding gene gene with protein product 611574 NA 14685263 Standard NM_152621 NM_152621 NA Approved MGC26963, SMS2 uc003hyl.4 Q8NHU3 OTTHUMG00000131811 ENST00000394684.4:c.574-60G>C chr4.hg19:g.108824329G>C NA A8K2S9|B2RA61 hg19 CCDS3677.1 0.02 4.417253 TTAxACT COVERED NOVEL SGMS2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254752.1 1 7.524381 KEEP 0 0 0 25 885 GG 0.999931 0.999931 0 + 5 60 183 0 0 11.452624 127 60 4810 165 ENST00000394684.4 0.037879 1 SGMS2 166929 __UNKNOWN__ __UNKNOWN__ 4 108832286 108832286 __UNKNOWN__ 3'UTR SNP A A G rs11945554 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:108832286A>G ENST00000394684.4 + 0 2232 RP11-286E11.1_ENST00000513071.1_RNA|RP11-286E11.1_ENST00000499098.1_RNA NM_001136258.1 NP_001129730.1 Q8NHU3 SMS2_HUMAN sphingomyelin synthase 2 NA NA small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686) Golgi apparatus (GO:0005794)|integral component of cell outer membrane (GO:0045203)|integral component of Golgi membrane (GO:0030173)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) ceramide cholinephosphotransferase activity (GO:0047493)|kinase activity (GO:0016301)|sphingomyelin synthase activity (GO:0033188) central_nervous_system(1)|endometrium(2)|large_intestine(8)|liver(2)|lung(6)|prostate(1) 20 OV - Ovarian serous cystadenocarcinoma(123;2.95e-05) AATGCGCTACATATCACtttt 0.403 NA G||| 1179 0.235423 0.4992 0.1916 5008 , , NA 17610 0.0218 NA 0.2773 False NA ,,, NA NA NA 2504 0.0869 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC041369 CCDS3677.1 4q25 2008-02-05 ENSG00000164023 ENSG00000164023 166929 2.7.8.27 28395 protein-coding gene gene with protein product 611574 NA 14685263 Standard NM_152621 NM_152621 NA Approved MGC26963, SMS2 uc003hyl.4 Q8NHU3 OTTHUMG00000131811 ENST00000394684.4:c.*577A>G chr4.hg19:g.108832286A>G NA A8K2S9|B2RA61 hg19 CCDS3677.1 0.02 2.153999 TACxTAT COVERED NOVEL SGMS2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254752.1 1 6.31712 KEEP 0 0 0 21 627 AA 0.999869 0.999788 0 + 7 60 246 0 0 17.090983 88 60 3200 132 ENST00000394684.4 0.073684 0.999919 CYP2U1 113612 __UNKNOWN__ __UNKNOWN__ 4 108855007 108855007 __UNKNOWN__ Intron SNP A A G rs28477613 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:108855007A>G ENST00000508453.1 + 1 538 RP11-286E11.1_ENST00000513071.1_RNA|CYP2U1_ENST00000332884.6_Intron|CYP2U1_ENST00000513302.1_Intron Q7Z449 CP2U1_HUMAN cytochrome P450, family 2, subfamily U, polypeptide 1 NA NA arachidonic acid metabolic process (GO:0019369)|cell death (GO:0008219)|omega-hydroxylase P450 pathway (GO:0097267)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506) breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1) 10 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000128) aagtctacacattcagtacag 0.333 NA G||| 513 0.102436 0.1135 0.1153 5008 , , NA 19732 0.0179 NA 0.2217 False NA ,,, NA NA NA 2504 0.0429 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC012027 CCDS34047.1 4q25 2012-11-23 ENSG00000155016 ENSG00000155016 113612 Cytochrome P450s 20582 protein-coding gene gene with protein product spastic paraplegia 49 610670 NA 14975754, 14660610 Standard NM_183075 XM_005262717 NA Approved SPG49 uc003hyp.3 Q7Z449 OTTHUMG00000161084 ENST00000508453.1:c.-336+1718A>G chr4.hg19:g.108855007A>G NA B2RMV7|Q96EQ6 hg19 0.02 3.490161 CACxTTC COVERED NOVEL CYP2U1-003 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000363693.1 2 11.736142 KEEP 0 0 0 39 1249 AA 1 0.999999 0 + 5 60 170 0 0 10.292516 119 60 4478 217 ENST00000508453.1 0.040323 0.999999 CYP2U1 113612 __UNKNOWN__ __UNKNOWN__ 4 108874039 108874039 __UNKNOWN__ 3'UTR SNP C C A rs3756271 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:108874039C>A ENST00000332884.6 + 0 4370 RP11-286E11.1_ENST00000513071.1_RNA NM_183075.2 NP_898898.1 Q7Z449 CP2U1_HUMAN cytochrome P450, family 2, subfamily U, polypeptide 1 NA NA arachidonic acid metabolic process (GO:0019369)|cell death (GO:0008219)|omega-hydroxylase P450 pathway (GO:0097267)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506) breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1) 10 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000128) AAGCACTTTCCGTATAGATAA 0.303 NA A||| 2696 0.538339 0.5976 0.5476 5008 , , NA 18291 0.3373 NA 0.667 False NA ,,, NA NA NA 2504 0.5266 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC012027 CCDS34047.1 4q25 2012-11-23 ENSG00000155016 ENSG00000155016 113612 Cytochrome P450s 20582 protein-coding gene gene with protein product spastic paraplegia 49 610670 NA 14975754, 14660610 Standard NM_183075 XM_005262717 NA Approved SPG49 uc003hyp.3 Q7Z449 OTTHUMG00000161084 ENST00000332884.6:c.*2460C>A chr4.hg19:g.108874039C>A NA B2RMV7|Q96EQ6 hg19 CCDS34047.1 0.02 4.643262 TTCxGTA COVERED NOVEL CYP2U1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000363691.2 0 6.019493 KEEP 0 0 0 20 687 CC 0.999863 0.999862 0 + 7 60 263 0 0 17.828859 122 60 4201 176 ENST00000332884.6 0.054264 1 ETNPPL 64850 __UNKNOWN__ __UNKNOWN__ 4 109663371 109663371 __UNKNOWN__ 3'UTR SNP T T G rs4956208 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:109663371T>G ENST00000296486.3 - 0 1923 ETNPPL_ENST00000411864.2_3'UTR NM_001146590.1|NM_031279.3 NP_001140062.1|NP_112569.2 Q8TBG4 AT2L1_HUMAN ethanolamine-phosphate phospho-lyase NA NA mitochondrion (GO:0005739) ethanolamine-phosphate phospho-lyase activity (GO:0050459)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483) NA GCCAATTTATTTTGAGTTTGC 0.313 NA T||| 935 0.186701 0.0908 0.111 5008 , , NA 15532 0.502 NA 0.0537 False NA ,,, NA NA NA 2504 0.182 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ298293 CCDS3682.1, CCDS54792.1, CCDS54793.1 4q25 2013-06-12 2013-06-12 2013-06-12 ENSG00000164089 ENSG00000164089 64850 4.2.3.2 14404 protein-coding gene gene with protein product 614682 alanine-glyoxylate aminotransferase 2-like 1 AGXT2L1 NA 7592550, 22241472 Standard NM_031279 NM_031279 NA Approved uc003hzc.3 Q8TBG4 OTTHUMG00000161036 ENST00000296486.3:c.*269A>C chr4.hg19:g.109663371T>G NA B7Z1Y0|E9PBY0|Q9H174 hg19 CCDS3682.1 0.02 4.704703 TATxTTG COVERED NOVEL ETNPPL-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000363508.1 1 7.522453 KEEP 0 0 0 25 795 TT 0.999931 0.99993 0 - 5 60 194 0 0 12.724706 117 60 4247 179 ENST00000296486.3 0.040984 0.999999 ETNPPL 64850 __UNKNOWN__ __UNKNOWN__ 4 109674116 109674116 __UNKNOWN__ Missense_Mutation SNP A A G rs1377210 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:109674116A>G ENST00000510706.1 - 6 729 c.433T>C c.(433-435)Tca>Cca p.S145P ETNPPL_ENST00000411864.2_Missense_Mutation_p.S179P|ETNPPL_ENST00000512646.1_Missense_Mutation_p.S127P|ETNPPL_ENST00000296486.3_Missense_Mutation_p.S185P Q8TBG4 AT2L1_HUMAN ethanolamine-phosphate phospho-lyase 185 NA mitochondrion (GO:0005739) ethanolamine-phosphate phospho-lyase activity (GO:0050459)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483) NA GCACTGGCTGAGTCTGCATGG 0.378 NA G||| 1329 0.265375 0.2988 0.1499 5008 , , NA 19676 0.498 NA 0.0805 False NA ,,, NA NA NA 2504 0.2526 NA NA NA NA 0 GRCh37 CM064956 AGXT2L1 M rs1377210 G PRO/SER,PRO/SER,PRO/SER 1204,3202 709.0+/-407.7 164,876,1163 172 162 165 535,379,553 4.6 0.8 4 dbSNP_88 165 757,7843 784.9+/-407.6 36,685,3579 yes missense,missense,missense AGXT2L1 NM_001146590.1,NM_001146627.1,NM_031279.3 74,74,74 200,1561,4742 GG,GA,AA 8.8023,27.3264,15.0777 benign,benign,benign 179/494,127/442,185/500 109674116 1961,11045 2203 4300 6503 SO:0001583 missense AJ298293 CCDS3682.1, CCDS54792.1, CCDS54793.1 4q25 2013-06-12 2013-06-12 2013-06-12 ENSG00000164089 ENSG00000164089 64850 4.2.3.2 14404 protein-coding gene gene with protein product 614682 alanine-glyoxylate aminotransferase 2-like 1 AGXT2L1 NA 7592550, 22241472 Standard NM_031279 NM_031279 NA Approved uc003hzc.3 Q8TBG4 OTTHUMG00000161036 ENST00000510706.1:c.433T>C chr4.hg19:g.109674116A>G ENSP00000423240:p.Ser145Pro NA B7Z1Y0|E9PBY0|Q9H174 hg19 0.02 19.054638 CTGxGTC COVERED 562 0.2573260073260073 158 0.32113821138211385 44 0.12154696132596685 298 0.5209790209790209 62 0.08179419525065963 G 0.840 -0.742376 0.03088 0.273264 0.088023 ENSG00000164089 ENST00000296486;ENST00000411864;ENST00000512646;ENST00000510706 D;D;D;D 0.86694 -2.16;-2.16;-2.16;-2.16 5.46 4.61 0.57282 Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1); 0.048916 0.85682 N 0.000000 T 0.00012 0.0000 N 0.00637 -1.305 0.44309 P 0.0028129999999999544 B;B;B 0.02656 0.0;0.0;0.0 B;B;B 0.01281 0.0;0.0;0.0 T 0.37865 -0.9687 8 . . . -5.6589 10.6615 0.45704 0.0686:0.0:0.7992:0.1322 rs1377210;rs3733621;rs52805159;rs60825583;rs1377210 127;179;185 E9PBY0;Q8TBG4-2;Q8TBG4 .;.;AT2L1_HUMAN P 185;179;127;145 ENSP00000296486:S185P;ENSP00000392269:S179P;ENSP00000427065:S127P;ENSP00000423240:S145P . S - 1 0 AGXT2L1 109893565 1.000000 0.71417 0.761000 0.31378 0.203000 0.24098 4.751000 0.62169 0.665000 0.31066 -0.119000 0.15052 TCA NOVEL ETNPPL-001 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000363507.1 1 13.84347 KEEP 0 0 0 46 1509 AA 1 1 0 - 13 60 501 0 0 31.039579 414 60 15402 591 ENST00000510706.1 0.030445 1 ETNPPL 64850 __UNKNOWN__ __UNKNOWN__ 4 109681267 109681267 __UNKNOWN__ Intron SNP A A G rs61525227 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:109681267A>G ENST00000510706.1 - 2 352 ETNPPL_ENST00000411864.2_Intron|ETNPPL_ENST00000512646.1_Intron|ETNPPL_ENST00000296486.3_Intron Q8TBG4 AT2L1_HUMAN ethanolamine-phosphate phospho-lyase NA NA mitochondrion (GO:0005739) ethanolamine-phosphate phospho-lyase activity (GO:0050459)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483) NA CAATTCCCCAAACAAAAATTA 0.443 NA G||| 1378 0.27516 0.3328 0.1513 5008 , , NA 20098 0.499 NA 0.0815 False NA ,,, NA NA NA 2504 0.2536 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ298293 CCDS3682.1, CCDS54792.1, CCDS54793.1 4q25 2013-06-12 2013-06-12 2013-06-12 ENSG00000164089 ENSG00000164089 64850 4.2.3.2 14404 protein-coding gene gene with protein product 614682 alanine-glyoxylate aminotransferase 2-like 1 AGXT2L1 NA 7592550, 22241472 Standard NM_031279 NM_031279 NA Approved uc003hzc.3 Q8TBG4 OTTHUMG00000161036 ENST00000510706.1:c.55+76T>C chr4.hg19:g.109681267A>G NA B7Z1Y0|E9PBY0|Q9H174 hg19 0.02 11.64125 CCAxACA COVERED NOVEL ETNPPL-001 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000363507.1 1 7.823708 KEEP 0 0 0 26 831 AA 0.999957 0.999957 0 - 8 60 303 0 0 18.584203 254 60 9011 317 ENST00000510706.1 0.030534 1 ETNPPL 64850 __UNKNOWN__ __UNKNOWN__ 4 109683509 109683509 __UNKNOWN__ Intron SNP A A G rs57603342 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:109683509A>G ENST00000510706.1 - 1 233 ETNPPL_ENST00000411864.2_Intron|ETNPPL_ENST00000512646.1_Intron|ETNPPL_ENST00000296486.3_Intron Q8TBG4 AT2L1_HUMAN ethanolamine-phosphate phospho-lyase NA NA mitochondrion (GO:0005739) ethanolamine-phosphate phospho-lyase activity (GO:0050459)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483) NA ACCCTTCATCACTTAACCAAG 0.363 NA G||| 1105 0.220647 0.41 0.0922 5008 , , NA 18489 0.1538 NA 0.1173 False NA ,,, NA NA NA 2504 0.2311 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ298293 CCDS3682.1, CCDS54792.1, CCDS54793.1 4q25 2013-06-12 2013-06-12 2013-06-12 ENSG00000164089 ENSG00000164089 64850 4.2.3.2 14404 protein-coding gene gene with protein product 614682 alanine-glyoxylate aminotransferase 2-like 1 AGXT2L1 NA 7592550, 22241472 Standard NM_031279 NM_031279 NA Approved uc003hzc.3 Q8TBG4 OTTHUMG00000161036 ENST00000510706.1:c.63+467T>C chr4.hg19:g.109683509A>G NA B7Z1Y0|E9PBY0|Q9H174 hg19 0.02 8.254035 ATCxCTT COVERED NOVEL ETNPPL-001 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000363507.1 2 13.223477 KEEP 0 0 0 44 1341 AA 1 1 0 - 11 60 345 0 0 19.959474 251 60 8944 360 ENST00000510706.1 0.041985 1 ETNPPL 64850 __UNKNOWN__ __UNKNOWN__ 4 109683688 109683688 __UNKNOWN__ Intron SNP G G A rs3733622 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:109683688G>A ENST00000510706.1 - 1 233 ETNPPL_ENST00000411864.2_Intron|ETNPPL_ENST00000512646.1_Intron|ETNPPL_ENST00000296486.3_Intron Q8TBG4 AT2L1_HUMAN ethanolamine-phosphate phospho-lyase NA NA mitochondrion (GO:0005739) ethanolamine-phosphate phospho-lyase activity (GO:0050459)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483) NA CTGGAATGGTGTCTGCTAGGG 0.587 NA G||| 1096 0.21885 0.4039 0.0893 5008 , , NA 14003 0.1538 NA 0.1183 False NA ,,, NA NA NA 2504 0.2311 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ298293 CCDS3682.1, CCDS54792.1, CCDS54793.1 4q25 2013-06-12 2013-06-12 2013-06-12 ENSG00000164089 ENSG00000164089 64850 4.2.3.2 14404 protein-coding gene gene with protein product 614682 alanine-glyoxylate aminotransferase 2-like 1 AGXT2L1 NA 7592550, 22241472 Standard NM_031279 NM_031279 NA Approved uc003hzc.3 Q8TBG4 OTTHUMG00000161036 ENST00000510706.1:c.63+288C>T chr4.hg19:g.109683688G>A NA B7Z1Y0|E9PBY0|Q9H174 hg19 0.02 16.753241 GGTxTCT COVERED NOVEL ETNPPL-001 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000363507.1 1 15.98438 KEEP 0 1 31 64 2217 GG 1 1 0 - 13 60 479 0 0 28.684241 426 60 15685 614 ENST00000510706.1 0.029613 1 CCDC109B 55013 __UNKNOWN__ __UNKNOWN__ 4 110581363 110581363 __UNKNOWN__ Missense_Mutation SNP T T A rs4698744 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:110581363T>A ENST00000394650.4 + 3 321 c.188T>A c.(187-189)aTt>aAt p.I63N CCDC109B_ENST00000515114.1_3'UTR NM_017918.4 NP_060388.2 Q9NWR8 MCUB_HUMAN coiled-coil domain containing 109B 63 NA I -> N (in dbSNP:rs4698744). mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851) calcium channel complex (GO:0034704)|integral component of mitochondrial inner membrane (GO:0031305)|intrinsic component of membrane (GO:0031224)|mitochondrion (GO:0005739)|uniplex complex (GO:1990246) calcium channel inhibitor activity (GO:0019855) breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(1) 9 OV - Ovarian serous cystadenocarcinoma(123;6.65e-06) ATAACAGTTATTTATAGACAT 0.308 NA A||| 1477 0.294928 0.1346 0.3804 5008 , , NA 15650 0.4802 NA 0.3201 False NA ,,, NA NA NA 2504 0.2342 NA NA NA NA 0 A ASN/ILE 199,1185 15,169,508 74 57 62 188 -7.5 0 4 dbSNP_111 62 983,2199 156,671,764 yes missense CCDC109B NM_017918.4 149 171,840,1272 AA,AT,TT 30.8925,14.3786,25.887 benign 63/337 110581363 1182,3384 692 1591 2283 SO:0001583 missense BC002633 CCDS3683.2 4q25 2011-05-24 ENSG00000005059 ENSG00000005059 55013 26076 protein-coding gene gene with protein product NA 12477932 Standard NM_017918 NM_017918 NA Approved FLJ20647 uc011cfs.2 Q9NWR8 OTTHUMG00000161103 ENST00000394650.4:c.188T>A chr4.hg19:g.110581363T>A ENSP00000378145:p.Ile63Asn NA A8K4Y3|Q6IAC1 hg19 CCDS3683.2 0.02 13.375451 TTAxTTA COVERED 727 0.33287545787545786 80 0.16260162601626016 138 0.3812154696132597 270 0.47202797202797203 239 0.3153034300791557 A 6.289 0.421491 0.11928 0.143786 0.308925 ENSG00000005059 ENST00000394650;ENST00000452915 T;T 0.45276 0.9;0.9 5.28 -7.51 0.01346 . 0.868148 0.09770 N 0.758169 T 0.00012 0.0000 N 0.02247 -0.625 0.80722 P 0.0 B;B 0.02656 0.0;0.0 B;B 0.04013 0.001;0.0 T 0.37267 -0.9713 9 0.13470 T 0.59 -0.215 5.0765 0.14634 0.3719:0.1008:0.4294:0.0979 rs4698744;rs17619522;rs58266701;rs4698744 63;42 Q9NWR8;C9JTJ6 C109B_HUMAN;. N 63;42 ENSP00000378145:I63N;ENSP00000414591:I42N ENSP00000378145:I63N I + 2 0 CCDC109B 110800812 0.126000 0.22350 0.000000 0.03702 0.820000 0.46376 0.094000 0.15107 -2.463000 0.00535 -1.099000 0.02127 ATT NOVEL CCDC109B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254865.1 0 12.939047 KEEP 0 0 0 43 1370 TT 1 1 0 + 17 70 628 0 0 41.949561 308 60 11312 439 ENST00000394650.4 0.052308 1 CFI 3426 __UNKNOWN__ __UNKNOWN__ 4 110681505 110681505 __UNKNOWN__ Silent SNP C C T rs2298749 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:110681505C>T ENST00000394635.3 - 6 883 c.804G>A c.(802-804)tcG>tcA p.S268S CFI_ENST00000512148.1_Silent_p.S268S|CFI_ENST00000394634.2_Silent_p.S268S P05156 CFAI_HUMAN complement factor I 268 LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}. NA complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449) extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252) breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1) 27 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000331) TGCAAACACCCGATTTGCAAT 0.428 NA C||| 1563 0.312101 0.357 0.4395 5008 , , NA 19434 0.3095 NA 0.2455 False NA ,,, NA NA NA 2504 0.2321 NA NA NA NA 0 C 1631,2775 501.2+/-364.9 314,1003,886 143 129 134 804 -2 0.9 4 dbSNP_100 134 2195,6405 374.3+/-337.3 293,1609,2398 no coding-synonymous CFI NM_000204.3 607,2612,3284 TT,TC,CC 25.5233,37.0177,29.4172 268/584 110681505 3826,9180 2203 4300 6503 SO:0001819 synonymous_variant J02770 CCDS34049.1 4q25 2014-09-17 2006-02-10 2006-02-10 ENSG00000205403 3426 3.4.21.45 Complement system 5394 protein-coding gene gene with protein product Konglutinogen-activating factor, C3b-inactivator 217030 I factor (complement) IF NA 2956252 Standard NM_000204 NM_000204 NA Approved FI, C3b-INA, KAF uc003hzr.4 P05156 ENST00000394635.3:c.804G>A chr4.hg19:g.110681505C>T NA O60442 hg19 0.02 24.389645 ACCxGAT COVERED NOVEL CFI-006 NOVEL basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000364697.2 2 20.465777 KEEP 0 0 0 68 2335 CC 1 1 0 - 24 60 880 0 0 56.521806 532 60 18301 763 ENST00000394635.3 0.043165 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 110730417 110730417 __UNKNOWN__ IGR SNP C C G rs150653084 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:110730417C>G NA NA CFI (7082 upstream) : RP11-602N24.3 (5785 downstream) NA NA NA acctcgtgatccacccacctt 0.488 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.110730417C>G NA hg19 0.02 -0.043865 GATxCAC UNCOVERED NOVEL 0 4 2.407411 KEEP 0 0 0 8 264 CC 0.99257 0.023895 0 2 30 71 0 0 6.592775 3 60 107 15 0.4 0.024074 RRH 10692 __UNKNOWN__ __UNKNOWN__ 4 110757224 110757224 __UNKNOWN__ Silent SNP G G A rs61747002 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:110757224G>A ENST00000317735.4 + 4 493 c.459G>A c.(457-459)ctG>ctA p.L153L NM_006583.2 NP_006574.1 O14718 OPSX_HUMAN retinal pigment epithelium-derived rhodopsin homolog 153 NA G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601) integral component of plasma membrane (GO:0005887) G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881) endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1) 12 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00109) TCAATGGCCTGTTTTGGGCTT 0.448 NA G||| 461 0.0920527 0.0023 0.2017 5008 , , NA 19400 0.2063 NA 0.0149 False NA ,,, NA NA NA 2504 0.0971 NA NA NA NA 0 G 31,4375 36.8+/-68.6 0,31,2172 216 195 202 459 -1 1 4 dbSNP_129 202 132,8468 66.7+/-129.0 1,130,4169 no coding-synonymous RRH NM_006583.2 1,161,6341 AA,AG,GG 1.5349,0.7036,1.2533 153/338 110757224 163,12843 2203 4300 6503 SO:0001819 synonymous_variant AF012270 CCDS3687.1 4q25 2012-08-08 ENSG00000180245 ENSG00000180245 10692 GPCR / Class A : Opsin receptors 10450 protein-coding gene gene with protein product peropsin 605224 NA 9275222 Standard NM_006583 NM_006583 NA Approved peropsin uc003hzv.3 O14718 OTTHUMG00000132045 ENST00000317735.4:c.459G>A chr4.hg19:g.110757224G>A NA A1A4V2|Q7RTS4 hg19 CCDS3687.1 0.02 14.436828 CCTxTTT COVERED NOVEL RRH-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255066.1 1 12.941964 KEEP 0 0 0 43 1520 GG 1 1 0 + 12 60 417 0 0 24.410217 362 60 13420 502 ENST00000317735.4 0.032086 1 RRH 10692 __UNKNOWN__ __UNKNOWN__ 4 110757287 110757287 __UNKNOWN__ Silent SNP G G A rs61744555 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:110757287G>A ENST00000317735.4 + 4 556 c.522G>A c.(520-522)acG>acA p.T174T NM_006583.2 NP_006574.1 O14718 OPSX_HUMAN retinal pigment epithelium-derived rhodopsin homolog 174 NA G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601) integral component of plasma membrane (GO:0005887) G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881) endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1) 12 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00109) CTGGTGCTACGTGTACCATAA 0.413 NA G||| 714 0.142572 0.1846 0.2104 5008 , , NA 21164 0.2063 NA 0.0199 False NA ,,, NA NA NA 2504 0.0982 NA NA NA NA 0 G 696,3710 293.3+/-282.5 55,586,1562 156 140 145 522 -5.8 0.8 4 dbSNP_129 145 210,8390 89.7+/-151.9 3,204,4093 no coding-synonymous RRH NM_006583.2 58,790,5655 AA,AG,GG 2.4419,15.7966,6.966 174/338 110757287 906,12100 2203 4300 6503 SO:0001819 synonymous_variant AF012270 CCDS3687.1 4q25 2012-08-08 ENSG00000180245 ENSG00000180245 10692 GPCR / Class A : Opsin receptors 10450 protein-coding gene gene with protein product peropsin 605224 NA 9275222 Standard NM_006583 NM_006583 NA Approved peropsin uc003hzv.3 O14718 OTTHUMG00000132045 ENST00000317735.4:c.522G>A chr4.hg19:g.110757287G>A NA A1A4V2|Q7RTS4 hg19 CCDS3687.1 0.02 8.437434 TACxTGT COVERED NOVEL RRH-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255066.1 0 6.621769 KEEP 0 0 0 22 791 GG 0.999879 0.999879 0 + 8 60 295 0 0 18.077115 233 60 8564 295 ENST00000317735.4 0.033195 1 LRIT3 345193 __UNKNOWN__ __UNKNOWN__ 4 110791543 110791543 __UNKNOWN__ Silent SNP C C T rs2347133 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:110791543C>T ENST00000594814.1 + 4 1638 c.1638C>T c.(1636-1638)ccC>ccT p.P546P LRIT3_ENST00000327908.3_Silent_p.P363P|LRIT3_ENST00000379920.3_Silent_p.P501P|LRIT3_ENST00000409621.2_Silent_p.P363P NM_198506.3 NP_940908.3 Q3SXY7 LRIT3_HUMAN leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 546 Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}. NA regulation of fibroblast growth factor receptor signaling pathway (GO:0040036) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1) 16 OV - Ovarian serous cystadenocarcinoma(123;0.0011) GCTTGGAACCCGGTGGGCAAT 0.488 NA C||| 1246 0.248802 0.27 0.3804 5008 , , NA 20723 0.2728 NA 0.1481 False NA ,,, NA NA NA 2504 0.2055 NA NA NA NA 0 C 1072,3334 389.3+/-327.3 133,806,1264 101 96 98 1503 -10.3 0 4 dbSNP_100 98 1186,7414 241.4+/-271.8 100,986,3214 no coding-synonymous LRIT3 NM_198506.2 233,1792,4478 TT,TC,CC 13.7907,24.3305,17.3612 501/635 110791543 2258,10748 2203 4300 6503 SO:0001819 synonymous_variant AK126648 CCDS3688.2, CCDS3688.3 4q25 2014-01-28 2007-06-19 ENSG00000183423 ENSG00000183423 345193 Immunoglobulin superfamily / I-set domain containing 24783 protein-coding gene gene with protein product fibronectin type III, immunoglobulin and leucine rich repeat domains 4 615004 NA Standard NM_198506 NM_198506 NA Approved FLJ44691, FIGLER4, CSNB1F uc031sgv.1 Q3SXY7 OTTHUMG00000132043 ENST00000594814.1:c.1638C>T chr4.hg19:g.110791543C>T NA C9J1C2|Q6ZTG1 hg19 CCDS3688.3 0.02 11.440691 ACCxGGT COVERED NOVEL LRIT3-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000335270.2 1 8.425847 KEEP 0 0 0 28 948 CC 0.999997 0.999997 0 + 9 60 343 0 0 21.584147 253 60 8708 335 ENST00000594814.1 0.034351 1 EGF 1950 __UNKNOWN__ __UNKNOWN__ 4 110880362 110880362 __UNKNOWN__ Intron SNP T T C rs11568925 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:110880362T>C ENST00000509793.1 + 6 1392 EGF_ENST00000503392.1_Intron|EGF_ENST00000265171.5_Intron NM_001178131.1 NP_001171602.1 P01133 EGF_HUMAN epidermal growth factor NA NA activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262) extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093) calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297) breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) Sucralfate(DB00364) GAGATGCAGCTGTAGACGTTG 0.468 NA T||| 386 0.0770767 0.0 0.0014 5008 , , NA 17693 0.2292 NA 0.0 False NA ,,, NA NA NA 2504 0.1575 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X04571 CCDS3689.1, CCDS54794.1, CCDS54795.1 4q25 2012-10-02 2010-05-11 ENSG00000138798 ENSG00000138798 1950 3229 protein-coding gene gene with protein product 131530 epidermal growth factor (beta-urogastrone) NA Standard NM_001963 NA Approved uc003hzy.4 P01133 OTTHUMG00000132044 ENST00000509793.1:c.941-1661T>C chr4.hg19:g.110880362T>C NA B4DRK7|E7EVD2|E9PBF0|Q52LZ6 hg19 CCDS54795.1 0.02 6.74207 AGCxGTA COVERED NOVEL EGF-002 KNOWN basic|appris_candidate|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000363798.2 0 3.911501 KEEP 0 0 0 13 398 TT 0.994391 0.994391 0 + 6 60 222 0 0 13.922593 156 60 5802 193 ENST00000509793.1 0.037037 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 111338277 111338277 __UNKNOWN__ IGR SNP T T C rs9994289 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:111338277T>C NA NA RNU6-205P (138830 upstream) : snoU2_19 (15987 downstream) NA NA NA ATGAGAAGAATGTGACAAAGT 0.373 NA T||| 2909 0.580871 0.4244 0.7349 5008 , , NA 23462 0.4812 NA 0.7913 False NA ,,, NA NA NA 2504 0.5695 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.111338277T>C NA hg19 0.02 1.77768 GAAxGTG COVERED NOVEL 0 0 2.992037 KEEP 0 0 0 10 278 TT 0.992708 0.99203 0 4 60 136 0 0 8.593571 77 60 2760 98 0.049383 0.999317 ALPK1 80216 __UNKNOWN__ __UNKNOWN__ 4 113278057 113278057 __UNKNOWN__ Intron SNP C C T rs2074378 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:113278057C>T ENST00000458497.1 + 3 179 ALPK1_ENST00000177648.9_Intron|ALPK1_ENST00000504176.2_Intron NM_001102406.1|NM_025144.3 NP_001095876.1|NP_079420.3 Q96QP1 ALPK1_HUMAN alpha-kinase 1 NA NA ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674) NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1) 53 Ovarian(17;0.0446)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00325) GTGAAGAAGACGTGTGAAGGA 0.527 NA T||| 2243 0.447883 0.3638 0.3963 5008 , , NA 21416 0.631 NA 0.3091 False NA ,,, NA NA NA 2504 0.5521 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY044164 CCDS3697.1, CCDS58923.1 4q26 2008-02-05 ENSG00000073331 ENSG00000073331 80216 20917 protein-coding gene gene with protein product lymphocyte alpha-kinase 607347 NA 10021370, 10819331 Standard NM_025144 NM_025144 NA Approved Lak, FLJ22670, KIAA1527 uc003ian.4 Q96QP1 OTTHUMG00000132911 ENST00000458497.1:c.-100-20777C>T chr4.hg19:g.113278057C>T NA B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201 hg19 CCDS3697.1 0.02 1.903854 AGAxGTG COVERED NOVEL ALPK1-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256421.2 1 3.009578 KEEP 0 0 0 10 334 CC 0.992708 0.991708 0 + 6 60 222 0 0 15.878751 72 60 2444 99 ENST00000458497.1 0.076923 0.998993 C4orf21 0 __UNKNOWN__ __UNKNOWN__ 4 113539969 113539969 __UNKNOWN__ Missense_Mutation SNP T T C rs7696816 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:113539969T>C ENST00000505019.1 - 6 1354 c.1229A>G c.(1228-1230)aAt>aGt p.N410S C4orf21_ENST00000309071.5_Missense_Mutation_p.N410S|C4orf21_ENST00000445203.2_Missense_Mutation_p.N379S NM_018392.4 NP_060862.3 Q86YA3 ZGRF1_HUMAN 410 NA N -> S (in dbSNP:rs7696816). integral component of membrane (GO:0016021) zinc ion binding (GO:0008270) breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000676) ACTGCTTTCATTGAATGAAGG 0.333 NA T||| 2092 0.417732 0.3003 0.5086 5008 , , NA 20068 0.4117 NA 0.4284 False NA ,,, NA NA NA 2504 0.5072 NA NA NA NA 0 T SER/ASN 1433,2973 455.5+/-351.0 234,965,1004 89 89 89 1229 -0.2 0 4 dbSNP_116 89 3647,4953 521.4+/-379.9 755,2137,1408 yes missense C4orf21 NM_018392.4 46 989,3102,2412 CC,CT,TT 42.407,32.5238,39.0589 benign 410/2105 113539969 5080,7926 2203 4300 6503 SO:0001583 missense NA NA NA NA ENST00000505019.1:c.1229A>G chr4.hg19:g.113539969T>C ENSP00000424737:p.Asn410Ser NA B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4 hg19 0.02 9.617907 TCAxTGA COVERED 905 0.4143772893772894 153 0.31097560975609756 181 0.5 245 0.42832167832167833 326 0.43007915567282323 T 0.008 -1.932518 0.00488 0.325238 0.42407 ENSG00000138658 ENST00000505019;ENST00000309071;ENST00000445203 T;T;T 0.81163 -1.46;2.03;1.62 5.05 -0.147 0.13428 . 1.081160 0.07099 N 0.840098 T 0.00012 0.0000 N 0.03608 -0.345 0.80722 P 0.0 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.30592 -0.9973 9 0.02654 T 1 1.4592 1.4742 0.02422 0.1541:0.4062:0.2096:0.2301 rs7696816;rs52796218;rs56876657;rs7696816 410;410 Q86YA3;G5EA02 CD021_HUMAN;. S 410;410;379 ENSP00000424737:N410S;ENSP00000309095:N410S;ENSP00000390505:N379S ENSP00000309095:N410S N - 2 0 C4orf21 113759418 0.000000 0.05858 0.011000 0.14972 0.022000 0.10575 -1.654000 0.01984 0.149000 0.19098 -1.022000 0.02435 AAT NOVEL C4orf21-003 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000256413.1 4 9.628537 KEEP 0 0 0 32 1017 TT 0.999997 0.999997 0 - 18 60 693 0 0 50.026883 225 60 8063 303 ENST00000505019.1 0.074074 1 C4orf21 0 __UNKNOWN__ __UNKNOWN__ 4 113554385 113554385 __UNKNOWN__ De_novo_Start_OutOfFrame SNP A A T rs13104310 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:113554385A>T ENST00000505019.1 - 0 73 C4orf21_ENST00000309071.5_De_novo_Start_OutOfFrame|C4orf21_ENST00000445203.2_De_novo_Start_OutOfFrame NM_018392.4 NP_060862.3 Q86YA3 ZGRF1_HUMAN NA NA integral component of membrane (GO:0016021) zinc ion binding (GO:0008270) breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000676) GAAATATTCAACTATTTATAC 0.274 NA A||| 2087 0.416733 0.298 0.5086 5008 , , NA 16608 0.4097 NA 0.4284 False NA ,,, NA NA NA 2504 0.5072 NA NA NA NA 0 A 446,938 64,318,310 50 43 45 -1 0 4 dbSNP_121 45 1357,1819 281,795,512 no utr-5 C4orf21 NM_018392.4 345,1113,822 TT,TA,AA 42.7267,32.2254,39.5395 113554385 1803,2757 692 1588 2280 NA NA NA NA ENST00000505019.1:c.-53T>A chr4.hg19:g.113554385A>T NA B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4 hg19 0.02 11.296149 TCAxCTA COVERED NOVEL C4orf21-003 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000256413.1 2 22.265229 KEEP 0 0 0 74 2347 AA 1 1 0 - 12 60 445 0 0 28.972931 255 60 9162 436 ENST00000505019.1 0.044944 1 CAMK2D 817 __UNKNOWN__ __UNKNOWN__ 4 114373068 114373068 __UNKNOWN__ 3'UTR SNP G G A rs17676882 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:114373068G>A ENST00000394524.3 - 0 4413 CAMK2D_ENST00000429180.1_3'UTR|CAMK2D_ENST00000394526.2_3'UTR|CAMK2D_ENST00000418639.2_3'UTR|CAMK2D_ENST00000296402.5_3'UTR|CAMK2D_ENST00000454265.2_3'UTR Q13557 KCC2D_HUMAN calcium/calmodulin-dependent protein kinase II delta NA NA calcium ion transport (GO:0006816)|cardiac muscle cell contraction (GO:0086003)|cellular response to calcium ion (GO:0071277)|cytokine-mediated signaling pathway (GO:0019221)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle cell action potential (GO:0098901)|regulation of cardiac muscle cell action potential involved in regulation of contraction (GO:0098909)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cell growth (GO:0001558)|regulation of cellular localization (GO:0060341)|regulation of generation of L-type calcium current (GO:1902514)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of histone deacetylase activity (GO:1901725)|regulation of membrane depolarization (GO:0003254)|regulation of relaxation of cardiac muscle (GO:1901897)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of the force of heart contraction (GO:0002026)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|relaxation of cardiac muscle (GO:0055119)|synaptic transmission (GO:0007268) axon initial segment (GO:0043194)|calcium channel complex (GO:0034704)|calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intercalated disc (GO:0014704)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315) ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|ion channel binding (GO:0044325)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|sodium channel inhibitor activity (GO:0019871)|titin binding (GO:0031432) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1) 13 Ovarian(17;0.00369)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000271) gtaagaagtcgggaaaagaag 0.413 NA G||| 1375 0.274561 0.0386 0.3473 5008 , , NA 19980 0.4335 NA 0.2773 False NA ,,, NA NA NA 2504 0.3753 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U50361 CCDS3703.1, CCDS3704.1, CCDS43263.1, CCDS47127.1, CCDS54797.1 4q26 2008-10-30 2008-10-30 ENSG00000145349 ENSG00000145349 817 1462 protein-coding gene gene with protein product 607708 calcium/calmodulin-dependent protein kinase (CaM kinase) II delta CAMKD NA Standard NM_001221 NA Approved uc003ibi.3 Q13557 OTTHUMG00000132910 ENST00000394524.3:c.*2600C>T chr4.hg19:g.114373068G>A NA A8MVS8|Q52PK4|Q59G21|Q8N553|Q9UGH6|Q9UQE9 hg19 CCDS43263.1 0.02 10.870879 GTCxGGA COVERED NOVEL CAMK2D-001 NOVEL basic|appris_candidate_longest|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000256418.1 1 21.067028 KEEP 0 0 0 70 2384 GG 1 1 0 - 11 60 415 0 0 26.786753 259 60 9130 416 ENST00000394524.3 0.040741 1 SYNPO2 171024 __UNKNOWN__ __UNKNOWN__ 4 119947985 119947985 __UNKNOWN__ Missense_Mutation SNP G G C rs12645298 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:119947985G>C ENST00000307142.4 + 3 657 c.461G>C c.(460-462)gGc>gCc p.G154A SYNPO2_ENST00000429713.2_Missense_Mutation_p.G154A|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000434046.2_Missense_Mutation_p.G154A NM_133477.2 NP_597734.2 Q9UMS6 SYNP2_HUMAN synaptopodin 2 154 NA G -> A (in dbSNP:rs12645298). {ECO:0000269|PubMed:17974005}. actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018) 14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371) breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 GACTGTGCAGGCAGCTTGAAA 0.552 NA G||| 1288 0.257188 0.0908 0.3876 5008 , , NA 17925 0.4196 NA 0.2256 False NA ,,, NA NA NA 2504 0.2546 NA NA NA NA 0 G ALA/GLY,ALA/GLY,ALA/GLY 538,3868 227.8+/-242.9 38,462,1703 38 41 40 461,461,461 1.3 0 4 dbSNP_120 40 2231,6369 360.3+/-331.9 291,1649,2360 yes missense,missense,missense SYNPO2 NM_001128933.1,NM_001128934.1,NM_133477.2 60,60,60 329,2111,4063 CC,CG,GG 25.9419,12.2106,21.2902 possibly-damaging,possibly-damaging,possibly-damaging 154/1094,154/1110,154/1262 119947985 2769,10237 2203 4300 6503 SO:0001583 missense AJ010482 CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1 4q26 2008-08-29 ENSG00000172403 ENSG00000172403 171024 17732 protein-coding gene gene with protein product NA 11673475, 17828378 Standard NM_133477 NA Approved MYOPODIN uc010inb.3 Q9UMS6 OTTHUMG00000161165 ENST00000307142.4:c.461G>C chr4.hg19:g.119947985G>C ENSP00000306015:p.Gly154Ala NA B2RWP6|B2Y8J9|Q9UK89|S5XAM4 hg19 CCDS34054.1 0.02 16.147156 CAGxCAG COVERED 598|598 0.27380952380952384|0.27380952380952384 52|52 0.10569105691056911|0.10569105691056911 119|119 0.3287292817679558|0.3287292817679558 244|244 0.42657342657342656|0.42657342657342656 183|183 0.24142480211081793|0.24142480211081793 G|G 3.203|3.203 -0.163297|-0.163297 0.06502|0.06502 0.122106|0.122106 0.259419|0.259419 ENSG00000172403|ENSG00000172403 ENST00000307142;ENST00000429713;ENST00000434046|ENST00000504178 T;T;T|. 0.07908|. 3.15;3.18;3.17|. 4.98|4.98 1.33|1.33 0.21861|0.21861 .|. 0.862354|. 0.10111|. N|. 0.714774|. T|T 0.00012|0.00012 0.0000|0.0000 M|M 0.64997|0.64997 1.995|1.995 0.58432|0.58432 P|P 1.0000000000287557E-6|1.0000000000287557E-6 P;P;P;P|. 0.46784|. 0.884;0.873;0.805;0.805|. B;B;B;B|. 0.33454|. 0.142;0.164;0.142;0.142|. T|T 0.41627|0.41627 -0.9498|-0.9498 9|4 0.40728|. T|. 0.16|. -3.3096|-3.3096 8.3309|8.3309 0.32187|0.32187 0.4442:0.0:0.5558:0.0|0.4442:0.0:0.5558:0.0 rs12645298;rs52814983;rs12645298|rs12645298;rs52814983;rs12645298 154;154;154;154|. B9EG60;Q9UMS6-2;E9PEM2;Q9UMS6|. .;.;.;SYNP2_HUMAN|. A|S 154|105 ENSP00000306015:G154A;ENSP00000395143:G154A;ENSP00000390965:G154A|. ENSP00000306015:G154A|. G|R +|+ 2|3 0|2 SYNPO2|SYNPO2 120167433|120167433 0.006000|0.006000 0.16342|0.16342 0.000000|0.000000 0.03702|0.03702 0.001000|0.001000 0.01503|0.01503 0.548000|0.548000 0.23314|0.23314 0.032000|0.032000 0.15435|0.15435 -0.262000|-0.262000 0.10625|0.10625 GGC|AGG NOVEL SYNPO2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000364018.1 3 83.049772 KEEP 0 0 0 276 9740 GG 1 1 0 + 13 60 488 0 0 30.7203 347 60 12765 793 ENST00000307142.4 0.036111 1 QRFPR 84109 __UNKNOWN__ __UNKNOWN__ 4 122250654 122250654 __UNKNOWN__ Missense_Mutation SNP G G A rs79300690 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:122250654G>A ENST00000394427.2 - 6 1522 c.1111C>T c.(1111-1113)Cgg>Tgg p.R371W QRFPR_ENST00000334383.5_3'UTR NM_198179.2 NP_937822.2 Q96P65 QRFPR_HUMAN pyroglutamylated RFamide peptide receptor 371 NA G-protein coupled receptor signaling pathway (GO:0007186) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983) p.R371W(1) endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1) 28 GCTTTCTTCCGCATCATTGTA 0.378 NA G||| 185 0.0369409 0.0121 0.0101 5008 , , NA 18786 0.1052 NA 0.0219 False NA ,,, NA NA NA 2504 0.0348 NA NA NA NA 1 Substitution - Missense(1) stomach(1) G TRP/ARG 74,4332 67.0+/-104.6 0,74,2129 188 187 187 1111 5 0.2 4 dbSNP_131 187 126,8474 65.3+/-127.6 1,124,4175 yes missense QRFPR NM_198179.2 101 1,198,6304 AA,AG,GG 1.4651,1.6795,1.5378 possibly-damaging 371/432 122250654 200,12806 2203 4300 6503 SO:0001583 missense AF411117 CCDS3719.1 4q27 2012-08-10 2008-12-18 2008-12-18 ENSG00000186867 ENSG00000186867 84109 GPCR / Class A : RF amide peptide receptors 15565 protein-coding gene gene with protein product 606925 G protein-coupled receptor 103 GPR103 NA 11574155 Standard NM_198179 NM_198179 NA Approved uc010inj.1 Q96P65 OTTHUMG00000133036 ENST00000394427.2:c.1111C>T chr4.hg19:g.122250654G>A ENSP00000377948:p.Arg371Trp NA hg19 CCDS3719.1 0.02 23.613964 TCCxCAT COVERED 104 0.047619047619047616 7 0.014227642276422764 6 0.016574585635359115 73 0.12762237762237763 18 0.023746701846965697 G 13.93 2.385227 0.42308 0.016795 0.014651 ENSG00000186867 ENST00000394427 T 0.73897 -0.79 5.0 5.0 0.66597 . 0.634163 0.16362 N 0.217722 T 0.00875 0.0029 N 0.14661 0.345 0.23510 P 0.99752453 P 0.39116 0.66 B 0.32805 0.153 T 0.34254 -0.9836 9 0.38643 T 0.18 . 15.0681 0.72011 0.0:0.0:0.8575:0.1425 . 371 Q96P65 QRFPR_HUMAN W 371 ENSP00000377948:R371W ENSP00000377948:R371W R - 1 2 QRFPR 122470104 0.986000 0.35501 0.167000 0.22817 0.085000 0.17905 5.088000 0.64486 2.499000 0.84300 0.491000 0.48974 CGG NOVEL QRFPR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256641.2 3 15.048924 KEEP 0 0 0 50 1753 GG 1 1 0 - 16 60 594 0 0 35.026578 583 60 21336 767 ENST00000394427.2 0.026711 1 QRFPR 84109 __UNKNOWN__ __UNKNOWN__ 4 122257950 122257950 __UNKNOWN__ Intron SNP A A G rs2302309 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:122257950A>G ENST00000394427.2 - 3 973 QRFPR_ENST00000334383.5_Intron NM_198179.2 NP_937822.2 Q96P65 QRFPR_HUMAN pyroglutamylated RFamide peptide receptor NA NA G-protein coupled receptor signaling pathway (GO:0007186) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983) endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1) 28 ATACATCTCAACTGGAGTCTA 0.418 NA G||| 1384 0.276358 0.1899 0.3213 5008 , , NA 18638 0.2688 NA 0.4016 False NA ,,, NA NA NA 2504 0.2403 NA NA NA NA 0 G 948,3458 735.3+/-410.7 105,738,1360 223 216 218 -2.5 0 4 dbSNP_100 218 3265,5335 648.4+/-400.5 609,2047,1644 no intron QRFPR NM_198179.2 714,2785,3004 GG,GA,AA 37.9651,21.5161,32.3927 122257950 4213,8793 2203 4300 6503 SO:0001627 intron_variant AF411117 CCDS3719.1 4q27 2012-08-10 2008-12-18 2008-12-18 ENSG00000186867 ENSG00000186867 84109 GPCR / Class A : RF amide peptide receptors 15565 protein-coding gene gene with protein product 606925 G protein-coupled receptor 103 GPR103 NA 11574155 Standard NM_198179 NM_198179 NA Approved uc010inj.1 Q96P65 OTTHUMG00000133036 ENST00000394427.2:c.561+11T>C chr4.hg19:g.122257950A>G NA hg19 CCDS3719.1 0.02 9.006702 TCAxCTG COVERED NOVEL QRFPR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256641.2 1 6.921765 KEEP 0 0 0 23 753 AA 0.999892 0.999892 0 - 8 60 282 0 0 16.940377 225 60 8027 311 ENST00000394427.2 0.034335 1 CCNA2 890 __UNKNOWN__ __UNKNOWN__ 4 122737873 122737873 __UNKNOWN__ 3'UTR SNP A A G rs1507987 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:122737873A>G ENST00000274026.5 - 0 2522 EXOSC9_ENST00000379663.3_Intron|EXOSC9_ENST00000243498.5_Intron|EXOSC9_ENST00000512454.1_Intron NM_001237.3 NP_001228 P20248 CCNA2_HUMAN cyclin A2 NA NA G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|organ regeneration (GO:0031100)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|response to estradiol (GO:0032355)|response to glucagon (GO:0033762) cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 12 TCTTATTTCAATAATCCAAAA 0.333 NA A||| 624 0.124601 0.2284 0.0144 5008 , , NA 15482 0.2133 NA 0.002 False NA ,,, NA NA NA 2504 0.0971 NA NA NA NA 0 A ,, 255,1129 20,215,457 43 36 38 ,, -2.3 0 4 dbSNP_88 38 9,3161 0,9,1576 no intron,utr-3,intron CCNA2,EXOSC9 NM_001034194.1,NM_001237.3,NM_005033.2 ,, 20,224,2033 GG,GA,AA 0.2839,18.4249,5.7971 ,, ,, 122737873 264,4290 692 1585 2277 SO:0001624 3_prime_UTR_variant CCDS3723.1 4q27 2012-07-12 ENSG00000145386 ENSG00000145386 890 1578 protein-coding gene gene with protein product 123835 CCNA, CCN1 NA 1675006 Standard NM_001237 NM_001237 NA Approved uc003iec.4 P20248 OTTHUMG00000133072 ENST00000274026.5:c.*920T>C chr4.hg19:g.122737873A>G NA A8K7B6|Q2M3U6|Q4W5P4|Q6LER8 hg19 CCDS3723.1 0.02 25.8976 TCAxTAA COVERED NOVEL CCNA2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256712.2 5 33.401745 KEEP 0 0 0 111 3530 AA 1 1 0 - 16 60 605 0 0 35.602282 629 60 23146 906 ENST00000274026.5 0.024806 1 BBS7 55212 __UNKNOWN__ __UNKNOWN__ 4 122789075 122789075 __UNKNOWN__ Intron SNP A A T rs77146930 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:122789075A>T ENST00000264499.4 - 2 286 BBS7_ENST00000506636.1_Intron NM_176824.2 NP_789794.1 Q8IWZ6 BBS7_HUMAN Bardet-Biedl syndrome 7 NA NA brain development (GO:0007420)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|digestive tract morphogenesis (GO:0048546)|eye development (GO:0001654)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|limb development (GO:0060173)|melanosome transport (GO:0032402)|nonmotile primary cilium assembly (GO:0035058)|palate development (GO:0060021)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|visual perception (GO:0007601) axoneme (GO:0005930)|BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|nucleus (GO:0005634)|plasma membrane (GO:0005886) RNA polymerase II repressing transcription factor binding (GO:0001103) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2) 30 AAAGAAGGAAATAGGAGCCTC 0.343 NA Bardet-Biedl syndrome A||| 253 0.0505192 0.0 0.0014 5008 , , NA 14909 0.2133 NA 0.001 False NA ,,, NA NA NA 2504 0.0368 NA NA NA NA 0 A , 1,1383 0,1,691 128 107 113 , 1.6 0 4 dbSNP_131 113 4,3178 0,4,1587 no intron,intron BBS7 NM_018190.3,NM_176824.2 , 0,5,2278 TT,TA,AA 0.1257,0.0723,0.1095 , , 122789075 5,4561 692 1591 2283 SO:0001627 intron_variant Familial Cancer Database BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome AF521644 CCDS3724.1, CCDS54799.1 4q27 2013-01-08 ENSG00000138686 ENSG00000138686 55212 18758 protein-coding gene gene with protein product 607590 NA Standard NM_176824 NA Approved FLJ10715, BBS2L1 uc003ied.3 Q8IWZ6 OTTHUMG00000133076 ENST00000264499.4:c.102+60T>A chr4.hg19:g.122789075A>T NA Q4W5P8|Q8N581|Q9NVI4 hg19 CCDS3724.1 0.02 8.579526 GAAxTAG COVERED NOVEL BBS7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256716.1 1 19.260124 KEEP 0 0 0 64 2115 AA 1 1 0 - 8 60 297 0 0 18.52218 217 60 7626 339 ENST00000264499.4 0.035556 1 TRPC3 7222 __UNKNOWN__ __UNKNOWN__ 4 122800889 122800889 __UNKNOWN__ 3'UTR SNP C C T rs79418555 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:122800889C>T ENST00000379645.3 - 0 2841 TRPC3_ENST00000264811.5_3'UTR NM_001130698.1 NP_001124170.1 Q13507 TRPC3_HUMAN transient receptor potential cation channel, subfamily C, member 3 NA NA axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279) NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 CAGGTTGCTGCATCATTCACA 0.343 NA C||| 257 0.0513179 0.0 0.0014 5008 , , NA 16726 0.2133 NA 0.001 False NA ,,, NA NA NA 2504 0.0409 NA NA NA NA 0 C , 8,4398 14.3+/-33.2 0,8,2195 120 114 116 , 0.2 0 4 dbSNP_131 116 10,8590 7.7+/-29.5 0,10,4290 no utr-3,utr-3 TRPC3 NM_001130698.1,NM_003305.2 , 0,18,6485 TT,TC,CC 0.1163,0.1816,0.1384 , , 122800889 18,12988 2203 4300 6503 SO:0001624 3_prime_UTR_variant Y13758 CCDS3725.1, CCDS47130.1 4q27 2011-12-14 ENSG00000138741 ENSG00000138741 7222 Voltage-gated ion channels / Transient receptor potential cation channels 12335 protein-coding gene gene with protein product 602345 NA 8646775, 16382100 Standard NM_003305 NM_003305 NA Approved uc003ieg.2 Q13507 OTTHUMG00000133069 ENST00000379645.3:c.*2G>A chr4.hg19:g.122800889C>T NA A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5 hg19 CCDS47130.1 0.02 31.265093 CTGxATC COVERED NOVEL TRPC3-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000364252.1 7 18.661798 KEEP 0 0 0 62 2271 CC 1 1 0 - 22 60 803 1 0 47.575489 737 60 28245 1034 ENST00000379645.3 0.028986 1 BBS12 166379 __UNKNOWN__ __UNKNOWN__ 4 123664204 123664204 __UNKNOWN__ Missense_Mutation SNP G G A rs309370 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:123664204G>A ENST00000314218.3 + 2 1350 c.1157G>A c.(1156-1158)cGg>cAg p.R386Q BBS12_ENST00000542236.1_Missense_Mutation_p.R386Q NM_152618.2 NP_689831.2 Q6ZW61 BBS12_HUMAN Bardet-Biedl syndrome 12 386 NA R -> Q (in dbSNP:rs309370). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005, ECO:0000269|Ref.4}. cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|eating behavior (GO:0042755)|intraciliary transport (GO:0042073)|negative regulation of fat cell differentiation (GO:0045599)|photoreceptor cell maintenance (GO:0045494) cilium (GO:0005929) ATP binding (GO:0005524) cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4) 21 GATAGCATGCGGCTTCAAGAA 0.438 NA Bardet-Biedl syndrome A||| 2536 0.50639 0.584 0.4726 5008 , , NA 21101 0.6597 NA 0.3191 False NA ,,, NA NA NA 2504 0.4601 NA NA NA NA 0 A GLN/ARG,GLN/ARG 2479,1927 548.5+/-377.6 698,1083,422 58 61 60 1157,1157 0.3 0 4 dbSNP_79 60 2903,5697 670.7+/-402.8 493,1917,1890 yes missense,missense BBS12 NM_001178007.1,NM_152618.2 43,43 1191,3000,2312 AA,AG,GG 33.7558,43.7358,41.3809 benign,benign 386/711,386/711 123664204 5382,7624 2203 4300 6503 SO:0001583 missense Familial Cancer Database BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome AK123553 CCDS3728.1 4q27 2014-06-17 2006-12-13 2006-12-13 ENSG00000181004 ENSG00000181004 166379 Heat Shock Proteins / Chaperonins 26648 protein-coding gene gene with protein product 610683 chromosome 4 open reading frame 24 C4orf24 NA 17160889 Standard NM_152618 NM_001178007 NA Approved FLJ35630, FLJ41559 uc003ieu.3 Q6ZW61 OTTHUMG00000133070 ENST00000314218.3:c.1157G>A chr4.hg19:g.123664204G>A ENSP00000319062:p.Arg386Gln NA D3DNX5|Q7Z342|Q7Z482|Q8NAB8 hg19 CCDS3728.1 0.02 17.333539 TGCxGCT COVERED 1045 0.4784798534798535 272 0.5528455284552846 168 0.46408839779005523 362 0.6328671328671329 243 0.32058047493403696 A 3.101 -0.184690 0.06340 0.562642 0.337558 ENSG00000181004 ENST00000314218;ENST00000542236 T;T 0.78924 -1.22;-1.22 5.68 0.337 0.15966 . 1.224000 0.05487 N 0.555912 T 0.00012 0.0000 N 0.14661 0.345 0.80722 P 0.0 B 0.10296 0.003 B 0.06405 0.002 T 0.41179 -0.9523 9 0.13470 T 0.59 -14.8675 2.2036 0.03930 0.3363:0.2377:0.3201:0.106 rs309370;rs17857449;rs52791731;rs56506272;rs59462913;rs309370 386 Q6ZW61 BBS12_HUMAN Q 386 ENSP00000319062:R386Q;ENSP00000438273:R386Q ENSP00000319062:R386Q R + 2 0 BBS12 123883654 0.000000 0.05858 0.000000 0.03702 0.390000 0.30446 -0.101000 0.10973 0.085000 0.17107 -0.269000 0.10298 CGG NOVEL BBS12-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256710.1 2 14.278242 KEEP 0 1 33 59 1951 GG 1 1 0 + 19 60 698 0 0 45.30436 400 60 13524 564 ENST00000314218.3 0.045346 1 BBS12 166379 __UNKNOWN__ __UNKNOWN__ 4 123664445 123664445 __UNKNOWN__ Silent SNP C C T rs2292493 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:123664445C>T ENST00000314218.3 + 2 1591 c.1398C>T c.(1396-1398)ggC>ggT p.G466G BBS12_ENST00000542236.1_Silent_p.G466G NM_152618.2 NP_689831.2 Q6ZW61 BBS12_HUMAN Bardet-Biedl syndrome 12 466 NA cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|eating behavior (GO:0042755)|intraciliary transport (GO:0042073)|negative regulation of fat cell differentiation (GO:0045599)|photoreceptor cell maintenance (GO:0045494) cilium (GO:0005929) ATP binding (GO:0005524) p.G466G(1) cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4) 21 ATTGTGTGGGCGACGGGGTCT 0.468 NA Bardet-Biedl syndrome C||| 1505 0.300519 0.1399 0.3184 5008 , , NA 19539 0.6587 NA 0.0825 False NA ,,, NA NA NA 2504 0.3599 NA NA NA NA 1 Substitution - coding silent(1) prostate(1) C , 617,3789 267.1+/-267.6 49,519,1635 80 79 79 1398,1398 1.6 0.4 4 dbSNP_100 79 770,7830 183.7+/-231.9 32,706,3562 no coding-synonymous,coding-synonymous BBS12 NM_001178007.1,NM_152618.2 , 81,1225,5197 TT,TC,CC 8.9535,14.0036,10.6643 , 466/711,466/711 123664445 1387,11619 2203 4300 6503 SO:0001819 synonymous_variant Familial Cancer Database BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome AK123553 CCDS3728.1 4q27 2014-06-17 2006-12-13 2006-12-13 ENSG00000181004 ENSG00000181004 166379 Heat Shock Proteins / Chaperonins 26648 protein-coding gene gene with protein product 610683 chromosome 4 open reading frame 24 C4orf24 NA 17160889 Standard NM_152618 NM_001178007 NA Approved FLJ35630, FLJ41559 uc003ieu.3 Q6ZW61 OTTHUMG00000133070 ENST00000314218.3:c.1398C>T chr4.hg19:g.123664445C>T NA D3DNX5|Q7Z342|Q7Z482|Q8NAB8 hg19 CCDS3728.1 0.02 14.646324 GGGxGAC COVERED NOVEL BBS12-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256710.1 1 14.446409 KEEP 0 0 0 48 1654 CC 1 1 0 + 17 60 574 0 0 35.580594 356 60 12578 481 ENST00000314218.3 0.045576 1 INTU 27152 __UNKNOWN__ __UNKNOWN__ 4 128628100 128628100 __UNKNOWN__ Missense_Mutation SNP A A C rs35858752 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:128628100A>C ENST00000335251.6 + 12 2350 c.2247A>C c.(2245-2247)ttA>ttC p.L749F NM_015693.3 NP_056508.2 Q9ULD6 INTU_HUMAN inturned planar cell polarity protein 749 NA cilium assembly (GO:0042384)|hair follicle morphogenesis (GO:0031069)|keratinocyte differentiation (GO:0030216)|limb development (GO:0060173)|negative regulation of cell division (GO:0051782)|negative regulation of keratinocyte proliferation (GO:0010839)|nervous system development (GO:0007399)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513) cytoplasm (GO:0005737) breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 43 CTGATGGTTTAGAAGAAAGTG 0.448 NA A||| 362 0.0722843 0.0 0.0821 5008 , , NA 20418 0.2758 NA 0.0199 False NA ,,, NA NA NA 2504 0.0072 NA NA NA NA 0 A PHE/LEU 36,4370 40.0+/-72.8 0,36,2167 195 196 195 2247 -1.9 0.5 4 dbSNP_126 195 113,8487 60.6+/-122.4 0,113,4187 yes missense INTU NM_015693.3 22 0,149,6354 CC,CA,AA 1.314,0.8171,1.1456 benign 749/943 128628100 149,12857 2203 4300 6503 SO:0001583 missense BC051698 CCDS34061.1 4q28.2 2013-03-05 2013-03-05 2006-10-24 ENSG00000164066 ENSG00000164066 27152 29239 protein-coding gene gene with protein product 610621 PDZ domain containing 6, inturned planar cell polarity effector homolog (Drosophila) PDZK6, PDZD6 NA 10574462, 21761479 Standard XM_371707 NM_015693 NA Approved KIAA1284 uc003ifk.2 Q9ULD6 OTTHUMG00000161202 ENST00000335251.6:c.2247A>C chr4.hg19:g.128628100A>C ENSP00000334003:p.Leu749Phe NA A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55 hg19 CCDS34061.1 0.02 16.568435 TTTxGAA COVERED 227 0.10393772893772894 0 0.0 29 0.08011049723756906 178 0.3111888111888112 20 0.026385224274406333 A 0.019 -1.461435 0.01062 0.008171 0.01314 ENSG00000164066 ENST00000335251 . . . 4.36 -1.85 0.07784 . 1.487300 0.03485 N 0.215726 T 0.00012 0.0000 N 0.22421 0.69 0.09310 P 0.9999999411836 B 0.02656 0.0 B 0.01281 0.0 T 0.28870 -1.0030 8 0.10111 T 0.7 -0.1168 4.2651 0.10759 0.4697:0.0:0.2525:0.2778 rs35858752 749 Q9ULD6 PDZD6_HUMAN F 749 . ENSP00000334003:L749F L + 3 2 INTU 128847550 0.006000 0.16342 0.452000 0.26994 0.073000 0.16967 0.020000 0.13466 -0.234000 0.09782 0.528000 0.53228 TTA NOVEL INTU-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000364147.2 2 22.267254 KEEP 0 0 0 74 2329 AA 1 1 0 + 12 60 419 0 0 23.640979 437 60 16177 638 ENST00000335251.6 0.026726 1 HSPA4L 22824 __UNKNOWN__ __UNKNOWN__ 4 128704882 128704882 __UNKNOWN__ Intron SNP A A G rs72616949 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:128704882A>G ENST00000296464.4 + 1 518 HSPA4L_ENST00000505726.1_Intron|HSPA4L_ENST00000508776.1_Intron|HSPA4L_ENST00000439123.2_Intron NM_014278.2 NP_055093.2 O95757 HS74L_HUMAN heat shock 70kDa protein 4-like NA NA protein folding (GO:0006457)|response to unfolded protein (GO:0006986) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634) ATP binding (GO:0005524) central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 31 CCAAAATATAATACCTTAACT 0.303 NA A||| 363 0.072484 0.0 0.0836 5008 , , NA 18579 0.2669 NA 0.0199 False NA ,,, NA NA NA 2504 0.0164 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB023421 CCDS3734.1 4q28 2011-09-07 ENSG00000164070 ENSG00000164070 22824 Heat shock proteins / HSP70 17041 protein-coding gene gene with protein product NA 10524232 Standard NM_014278 NM_014278 NA Approved APG-1, Osp94, HSPH3 uc003ifm.3 O95757 OTTHUMG00000133302 ENST00000296464.4:c.107+1070A>G chr4.hg19:g.128704882A>G NA A2ICT2|Q4W5M5|Q8IWA2 hg19 CCDS3734.1 0.02 8.418819 ATAxTAC COVERED NOVEL HSPA4L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257096.3 1 16.245176 KEEP 0 0 0 54 1611 AA 1 1 0 + 12 60 439 0 0 29.681395 197 60 7187 282 ENST00000296464.4 0.057416 1 MFSD8 256471 __UNKNOWN__ __UNKNOWN__ 4 128839320 128839320 __UNKNOWN__ 3'UTR SNP T T C rs72616968 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:128839320T>C ENST00000296468.3 - 0 4149 NM_152778.2 NP_689991.1 Q8NHS3 MFSD8_HUMAN major facilitator superfamily domain containing 8 NA NA cell death (GO:0008219)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634) cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1) 23 TTCTTAAATATGTACTACTCT 0.289 NA T||| 361 0.0720847 0.0 0.0836 5008 , , NA 16808 0.2649 NA 0.0199 False NA ,,, NA NA NA 2504 0.0164 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK074564 CCDS3736.1 4q28.2 2014-09-17 ENSG00000164073 ENSG00000164073 256471 28486 protein-coding gene gene with protein product 611124 ceroid-lipofuscinosis, neuronal 7, late infantile, variant CLN7 NA 17564970 Standard NM_152778 NM_152778 NA Approved MGC33302 uc003ifp.3 Q8NHS3 OTTHUMG00000133303 ENST00000296468.3:c.*2465A>G chr4.hg19:g.128839320T>C NA B2RDM1|B7Z205|Q8N2P3 hg19 CCDS3736.1 0.02 5.595491 ATAxGTA COVERED NOVEL MFSD8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257097.1 0 5.41572 KEEP 0 0 0 18 548 TT 0.999859 0.999859 0 - 7 60 240 0 0 14.514936 172 60 6329 214 ENST00000296468.3 0.039106 1 MFSD8 256471 __UNKNOWN__ __UNKNOWN__ 4 128842761 128842761 __UNKNOWN__ Missense_Mutation SNP G G A rs3733319 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:128842761G>A ENST00000296468.3 - 12 1395 c.1268C>T c.(1267-1269)gCt>gTt p.A423V MFSD8_ENST00000515130.1_5'UTR|MFSD8_ENST00000513559.1_Missense_Mutation_p.A378V NM_152778.2 NP_689991.1 Q8NHS3 MFSD8_HUMAN major facilitator superfamily domain containing 8 423 NA A -> V (in dbSNP:rs3733319). {ECO:0000269|PubMed:14702039}. cell death (GO:0008219)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634) cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1) 23 TATTAGCACAGCTGATGTAAG 0.453 NA A||| 615 0.122804 0.1815 0.1023 5008 , , NA 16924 0.2649 NA 0.0209 False NA ,,, NA NA NA 2504 0.0164 NA NA NA NA 0 A VAL/ALA 798,3608 751.5+/-412.2 80,638,1485 107 111 109 1268 0.1 0 4 dbSNP_107 109 120,8480 814.0+/-407.0 0,120,4180 yes missense MFSD8 NM_152778.2 64 80,758,5665 AA,AG,GG 1.3953,18.1117,7.0583 benign 423/519 128842761 918,12088 2203 4300 6503 SO:0001583 missense AK074564 CCDS3736.1 4q28.2 2014-09-17 ENSG00000164073 ENSG00000164073 256471 28486 protein-coding gene gene with protein product 611124 ceroid-lipofuscinosis, neuronal 7, late infantile, variant CLN7 NA 17564970 Standard NM_152778 NM_152778 NA Approved MGC33302 uc003ifp.3 Q8NHS3 OTTHUMG00000133303 ENST00000296468.3:c.1268C>T chr4.hg19:g.128842761G>A ENSP00000296468:p.Ala423Val NA B2RDM1|B7Z205|Q8N2P3 hg19 CCDS3736.1 0.02 8.226352 ACAxCTG COVERED 306 0.1401098901098901 81 0.16463414634146342 36 0.09944751381215469 169 0.29545454545454547 20 0.026385224274406333 A 9.089 1.001328 0.19121 0.181117 0.013953 ENSG00000164073 ENST00000296468;ENST00000513559 T;T 0.74947 -0.89;-0.89 5.17 0.137 0.14787 Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1); 0.428219 0.25227 N 0.032194 T 0.00012 0.0000 L 0.37630 1.12 0.23198 P 0.9981352 B 0.02656 0.0 B 0.04013 0.001 T 0.12268 -1.0554 9 0.17369 T 0.5 0.0037 1.9931 0.03451 0.3111:0.0917:0.4196:0.1776 rs3733319;rs52801898;rs3733319 423 Q8NHS3 MFSD8_HUMAN V 423;378 ENSP00000296468:A423V;ENSP00000425000:A378V ENSP00000296468:A423V A - 2 0 MFSD8 129062211 0.981000 0.34729 0.000000 0.03702 0.872000 0.50106 1.508000 0.35769 -0.468000 0.06922 -1.322000 0.01289 GCT NOVEL MFSD8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257097.1 1 12.039707 KEEP 0 0 0 40 1461 GG 1 1 0 - 9 60 308 0 0 18.643645 222 60 8452 331 ENST00000296468.3 0.038961 1 C4orf29 80167 __UNKNOWN__ __UNKNOWN__ 4 128922744 128922744 __UNKNOWN__ Intron SNP T T C rs72618813 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:128922744T>C ENST00000444616.1 + 5 525 C4orf29_ENST00000398965.1_Intron|C4orf29_ENST00000388795.5_Intron Q0P651 CD029_HUMAN chromosome 4 open reading frame 29 NA NA extracellular region (GO:0005576) breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1) 8 ctgagttatttatatgtaaag 0.323 NA C||| 624 0.124601 0.1808 0.1023 5008 , , NA 17528 0.2738 NA 0.0219 False NA ,,, NA NA NA 2504 0.0164 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK024759 CCDS47131.1 4q28.2 2008-02-05 ENSG00000164074 ENSG00000164074 80167 26111 protein-coding gene gene with protein product NA 12477932 Standard NM_001039717 XM_006714318 NA Approved FLJ21106 uc021xrt.1 Q0P651 OTTHUMG00000133304 ENST00000444616.1:c.279-7331T>C chr4.hg19:g.128922744T>C NA A1A4W8|A1A4W9|Q9H7A7 hg19 0.02 17.001606 ATTxATA COVERED NOVEL C4orf29-001 KNOWN non_canonical_conserved|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000257098.1 0 8.423395 KEEP 0 0 0 28 843 TT 0.999997 0.999997 0 + 11 60 435 0 0 27.307187 355 60 12660 433 ENST00000444616.1 0.030055 1 C4orf29 80167 __UNKNOWN__ __UNKNOWN__ 4 128949799 128949799 __UNKNOWN__ Missense_Mutation SNP C C T rs58225850 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:128949799C>T ENST00000444616.1 + 10 1116 c.869C>T c.(868-870)gCg>gTg p.A290V C4orf29_ENST00000398965.1_Missense_Mutation_p.A290V|C4orf29_ENST00000388795.5_Missense_Mutation_p.A242V Q0P651 CD029_HUMAN chromosome 4 open reading frame 29 290 NA extracellular region (GO:0005576) breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1) 8 TCTGTCAGTGCGACATCAGAA 0.383 NA C||| 368 0.0734824 0.0 0.0836 5008 , , NA 17121 0.2718 NA 0.0199 False NA ,,, NA NA NA 2504 0.0164 NA NA NA NA 0 C VAL/ALA 26,3758 0,26,1866 71 69 70 869 3.1 0.2 4 dbSNP_129 70 109,8141 0,109,4016 yes missense C4orf29 NM_001039717.1 64 0,135,5882 TT,TC,CC 1.3212,0.6871,1.1218 possibly-damaging 290/415 128949799 135,11899 1892 4125 6017 SO:0001583 missense AK024759 CCDS47131.1 4q28.2 2008-02-05 ENSG00000164074 ENSG00000164074 80167 26111 protein-coding gene gene with protein product NA 12477932 Standard NM_001039717 XM_006714318 NA Approved FLJ21106 uc021xrt.1 Q0P651 OTTHUMG00000133304 ENST00000444616.1:c.869C>T chr4.hg19:g.128949799C>T ENSP00000397229:p.Ala290Val NA A1A4W8|A1A4W9|Q9H7A7 hg19 0.02 14.44095 GTGxGAC COVERED 218 0.09981684981684982 0 0.0 30 0.08287292817679558 168 0.2937062937062937 20 0.026385224274406333 C 10.29 1.309487 0.23821 0.006871 0.013212 ENSG00000164074 ENST00000454347;ENST00000398961;ENST00000398965;ENST00000444616;ENST00000388795;ENST00000545758;ENST00000437077 . . . 4.88 3.13 0.36017 . 0.647387 0.15895 N 0.239343 T 0.00012 0.0000 L 0.29908 0.895 0.39713 P 0.02864599999999995 P;P 0.37663 0.569;0.604 B;B 0.35655 0.05;0.207 T 0.27297 -1.0078 8 0.38643 T 0.18 -4.9857 10.1505 0.42791 0.0:0.788:0.1374:0.0745 rs58225850 242;290 B7WP89;Q0P651 .;CD029_HUMAN V 290;121;290;290;242;208;197 . ENSP00000373447:A242V A + 2 0 C4orf29 129169249 1.000000 0.71417 0.216000 0.23742 0.080000 0.17528 2.396000 0.44468 0.634000 0.30469 -0.176000 0.13171 GCG NOVEL C4orf29-001 KNOWN non_canonical_conserved|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000257098.1 2 20.766488 KEEP 0 0 0 69 2371 CC 1 1 0 + 18 60 627 0 0 39.743878 367 60 13167 540 ENST00000444616.1 0.046753 1 C4orf29 80167 __UNKNOWN__ __UNKNOWN__ 4 128949850 128949850 __UNKNOWN__ Missense_Mutation SNP A A G rs35763794 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:128949850A>G ENST00000444616.1 + 10 1167 c.920A>G c.(919-921)aAt>aGt p.N307S C4orf29_ENST00000398965.1_Missense_Mutation_p.N307S|C4orf29_ENST00000388795.5_Missense_Mutation_p.N259S Q0P651 CD029_HUMAN chromosome 4 open reading frame 29 307 NA extracellular region (GO:0005576) breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1) 8 AAGCGCTTCAATCAAACACTT 0.413 NA A||| 368 0.0734824 0.0 0.0836 5008 , , NA 15944 0.2718 NA 0.0199 False NA ,,, NA NA NA 2504 0.0164 NA NA NA NA 0 A SER/ASN 26,3792 0,26,1883 88 87 87 920 -0.4 0 4 dbSNP_126 87 107,8143 0,107,4018 yes missense C4orf29 NM_001039717.1 46 0,133,5901 GG,GA,AA 1.297,0.681,1.1021 benign 307/415 128949850 133,11935 1909 4125 6034 SO:0001583 missense AK024759 CCDS47131.1 4q28.2 2008-02-05 ENSG00000164074 ENSG00000164074 80167 26111 protein-coding gene gene with protein product NA 12477932 Standard NM_001039717 XM_006714318 NA Approved FLJ21106 uc021xrt.1 Q0P651 OTTHUMG00000133304 ENST00000444616.1:c.920A>G chr4.hg19:g.128949850A>G ENSP00000397229:p.Asn307Ser NA A1A4W8|A1A4W9|Q9H7A7 hg19 0.02 18.683071 TCAxTCA COVERED 218 0.09981684981684982 0 0.0 30 0.08287292817679558 165 0.28846153846153844 23 0.030343007915567283 A 1.594 -0.528429 0.04112 0.00681 0.01297 ENSG00000164074 ENST00000454347;ENST00000398961;ENST00000398965;ENST00000444616;ENST00000388795;ENST00000545758;ENST00000437077 . . . 4.87 -0.397 0.12423 . 1.001330 0.08050 N 0.996537 T 0.00012 0.0000 N 0.17474 0.49 0.80722 P 0.0 B;B 0.10296 0.003;0.001 B;B 0.10450 0.005;0.005 T 0.37596 -0.9699 8 0.08837 T 0.75 -24.5718 5.7617 0.18203 0.5519:0.1372:0.3109:0.0 rs35763794;rs61593135;rs35763794 259;307 B7WP89;Q0P651 .;CD029_HUMAN S 307;138;307;307;259;225;214 . ENSP00000373447:N259S N + 2 0 C4orf29 129169300 1.000000 0.71417 0.006000 0.13384 0.312000 0.27988 0.978000 0.29488 0.036000 0.15547 0.528000 0.53228 AAT NOVEL C4orf29-001 KNOWN non_canonical_conserved|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000257098.1 3 20.460625 KEEP 0 0 0 68 2156 AA 1 1 0 + 16 60 608 0 0 39.25467 385 60 14141 569 ENST00000444616.1 0.0399 1 C4orf29 80167 __UNKNOWN__ __UNKNOWN__ 4 128949929 128949929 __UNKNOWN__ Missense_Mutation SNP C C A rs60505265 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:128949929C>A ENST00000444616.1 + 10 1246 c.999C>A c.(997-999)agC>agA p.S333R C4orf29_ENST00000398965.1_Missense_Mutation_p.S333R|C4orf29_ENST00000388795.5_Missense_Mutation_p.S285R Q0P651 CD029_HUMAN chromosome 4 open reading frame 29 333 NA extracellular region (GO:0005576) breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1) 8 AAGAACAAAGCAGAAACAGTC 0.353 NA A||| 439 0.0876597 0.0499 0.0908 5008 , , NA 16709 0.2718 NA 0.0199 False NA ,,, NA NA NA 2504 0.0164 NA NA NA NA 0 A ARG/SER 180,3580 3,174,1703 69 68 68 999 2.3 1 4 dbSNP_129 68 109,8109 0,109,4000 yes missense C4orf29 NM_001039717.1 110 3,283,5703 AA,AC,CC 1.3264,4.7872,2.4128 benign 333/415 128949929 289,11689 1880 4109 5989 SO:0001583 missense AK024759 CCDS47131.1 4q28.2 2008-02-05 ENSG00000164074 ENSG00000164074 80167 26111 protein-coding gene gene with protein product NA 12477932 Standard NM_001039717 XM_006714318 NA Approved FLJ21106 uc021xrt.1 Q0P651 OTTHUMG00000133304 ENST00000444616.1:c.999C>A chr4.hg19:g.128949929C>A ENSP00000397229:p.Ser333Arg NA A1A4W8|A1A4W9|Q9H7A7 hg19 0.02 11.659426 AAGxAGA COVERED 243 0.11126373626373626 21 0.042682926829268296 34 0.09392265193370165 168 0.2937062937062937 20 0.026385224274406333 A 3.744 -0.052957 0.07362 0.047872 0.013264 ENSG00000164074 ENST00000454347;ENST00000398961;ENST00000398965;ENST00000444616;ENST00000388795;ENST00000545758;ENST00000437077 . . . 4.87 2.29 0.28610 . 0.536720 0.22287 N 0.062052 T 0.00012 0.0000 N 0.00554 -1.385 0.58432 P 8.000000000008E-6 B;B 0.02656 0.0;0.0 B;B 0.06405 0.002;0.0 T 0.39781 -0.9597 8 0.09338 T 0.73 -22.5133 4.8553 0.13555 0.5075:0.2999:0.1925:0.0 rs60505265 285;333 B7WP89;Q0P651 .;CD029_HUMAN R 333;164;333;333;285;251;240 . ENSP00000373447:S285R S + 3 2 C4orf29 129169379 1.000000 0.71417 0.956000 0.39512 0.687000 0.40016 1.111000 0.31159 0.323000 0.23307 -0.264000 0.10439 AGC NOVEL C4orf29-001 KNOWN non_canonical_conserved|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000257098.1 0 9.330389 KEEP 0 0 0 31 1115 CC 0.999997 0.999997 0 + 12 60 421 0 0 25.681701 304 60 11664 404 ENST00000444616.1 0.037975 1 PGRMC2 10424 __UNKNOWN__ __UNKNOWN__ 4 129209427 129209427 __UNKNOWN__ 5'UTR SNP C C T rs41297943 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:129209427C>T ENST00000520121.1 - 0 557 NM_006320.4 NP_006311.2 O15173 PGRC2_HUMAN progesterone receptor membrane component 2 NA NA steroid hormone mediated signaling pathway (GO:0043401) integral component of membrane (GO:0016021)|membrane (GO:0016020) heme binding (GO:0020037)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707) NA CGTCCGCAAACTCCCGCCTCC 0.741 NA C||| 327 0.0652955 0.0008 0.0 5008 , , NA 13386 0.3036 NA 0.0089 False NA ,,, NA NA NA 2504 0.0112 NA NA NA Colon(78;371 1268 8296 41305 53030) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant CCDS3739.1, CCDS3739.2 4q26 2008-08-29 ENSG00000164040 ENSG00000164040 10424 16089 protein-coding gene gene with protein product 607735 NA 9705155 Standard NM_006320 NA Approved PMBP, DG6 uc003igg.3 O15173 OTTHUMG00000133342 ENST00000520121.1:c.-410G>A chr4.hg19:g.129209427C>T NA Q569H1 hg19 CCDS3739.2 0.02 17.938409 AAAxTCC COVERED NOVEL PGRMC2-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000257172.4 4 82.088393 KEEP 0 1 23 281 10084 CC 1 1 0 - 23 60 807 0 0 52.760133 406 60 14942 940 ENST00000520121.1 0.053613 1 SCLT1 132320 __UNKNOWN__ __UNKNOWN__ 4 129805325 129805325 __UNKNOWN__ 3'UTR SNP G G A rs191723769 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:129805325G>A ENST00000281142.5 - 0 2877 SCLT1_ENST00000434680.1_3'UTR NM_144643.2 NP_653244.2 Q96NL6 SCLT1_HUMAN sodium channel and clathrin linker 1 NA NA cilium assembly (GO:0042384)|clustering of voltage-gated sodium channels (GO:0045162) centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|clathrin complex (GO:0071439)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630) sodium channel regulator activity (GO:0017080) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1) 29 AATTTGCATAGTTTGAAAATT 0.284 NA G||| 12 0.00239617 0.0 0.0 5008 , , NA 15784 0.0109 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK055217 CCDS3740.1 4q28.2 2008-05-02 ENSG00000151466 ENSG00000151466 132320 26406 protein-coding gene gene with protein product 611399 NA 15797711 Standard NM_144643 XM_005262732 NA Approved hCAP-1A, FLJ30655 uc003igp.2 Q96NL6 OTTHUMG00000133346 ENST00000281142.5:c.*307C>T chr4.hg19:g.129805325G>A NA A4QN04|Q0VAH2|Q6P2M4 hg19 CCDS3740.1 0.02 3.68051 ATAxTTT COVERED NOVEL SCLT1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000257176.2 1 7.223825 KEEP 0 0 0 24 871 GG 0.999909 0.999909 0 - 5 60 177 0 0 10.97298 120 60 4601 178 ENST00000281142.5 0.04 0.999999 SCLT1 132320 __UNKNOWN__ __UNKNOWN__ 4 129805716 129805716 __UNKNOWN__ Intron SNP G G A rs167618 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:129805716G>A ENST00000281142.5 - 21 2508 SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000502495.1_Intron|SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000439369.2_Intron NM_144643.2 NP_653244.2 Q96NL6 SCLT1_HUMAN sodium channel and clathrin linker 1 NA NA cilium assembly (GO:0042384)|clustering of voltage-gated sodium channels (GO:0045162) centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|clathrin complex (GO:0071439)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630) sodium channel regulator activity (GO:0017080) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1) 29 ATAAACAATCGGTAAGTAGTT 0.323 NA G||| 2258 0.450879 0.6906 0.4193 5008 , , NA 18588 0.3671 NA 0.3748 False NA ,,, NA NA NA 2504 0.3139 NA NA NA NA 0 G 2695,1711 643.3+/-397.8 833,1029,341 51 56 55 0.5 1 4 dbSNP_79 55 3153,5447 475.2+/-369.1 616,1921,1763 no intron SCLT1 NM_144643.2 1449,2950,2104 AA,AG,GG 36.6628,38.8334,44.9639 129805716 5848,7158 2203 4300 6503 SO:0001627 intron_variant AK055217 CCDS3740.1 4q28.2 2008-05-02 ENSG00000151466 ENSG00000151466 132320 26406 protein-coding gene gene with protein product 611399 NA 15797711 Standard NM_144643 XM_005262732 NA Approved hCAP-1A, FLJ30655 uc003igp.2 Q96NL6 OTTHUMG00000133346 ENST00000281142.5:c.2005-22C>T chr4.hg19:g.129805716G>A NA A4QN04|Q0VAH2|Q6P2M4 hg19 CCDS3740.1 0.02 9.136317 ATCxGTA COVERED NOVEL SCLT1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000257176.2 2 8.125243 KEEP 0 0 0 27 923 GG 0.999988 0.999988 0 - 13 60 485 0 0 32.735763 228 60 8111 306 ENST00000281142.5 0.053942 1 SCLT1 132320 __UNKNOWN__ __UNKNOWN__ 4 129920969 129920969 __UNKNOWN__ Intron SNP A A T rs13118479 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:129920969A>T ENST00000281142.5 - 7 930 SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000439369.2_Intron NM_144643.2 NP_653244.2 Q96NL6 SCLT1_HUMAN sodium channel and clathrin linker 1 NA NA cilium assembly (GO:0042384)|clustering of voltage-gated sodium channels (GO:0045162) centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|clathrin complex (GO:0071439)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630) sodium channel regulator activity (GO:0017080) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1) 29 AAGTTTGATAACTCATTAAAT 0.313 NA A||| 341 0.0680911 0.003 0.0893 5008 , , NA 12971 0.0615 NA 0.0855 False NA ,,, NA NA NA 2504 0.1299 NA NA NA NA 0 A 76,4324 62.3+/-99.4 1,74,2125 47 48 48 -1.5 0 4 dbSNP_121 48 592,8002 152.1+/-206.7 26,540,3731 no intron SCLT1 NM_144643.2 27,614,5856 TT,TA,AA 6.8885,1.7273,5.1408 129920969 668,12326 2200 4297 6497 SO:0001627 intron_variant AK055217 CCDS3740.1 4q28.2 2008-05-02 ENSG00000151466 ENSG00000151466 132320 26406 protein-coding gene gene with protein product 611399 NA 15797711 Standard NM_144643 XM_005262732 NA Approved hCAP-1A, FLJ30655 uc003igp.2 Q96NL6 OTTHUMG00000133346 ENST00000281142.5:c.427-20T>A chr4.hg19:g.129920969A>T NA A4QN04|Q0VAH2|Q6P2M4 hg19 CCDS3740.1 0.02 4.32073 ATAxCTC COVERED NOVEL SCLT1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000257176.2 0 6.61873 KEEP 0 0 0 22 652 AA 0.999879 0.999879 0 - 6 60 226 0 0 14.653074 137 60 4783 184 ENST00000281142.5 0.041958 1 SCLT1 132320 __UNKNOWN__ __UNKNOWN__ 4 129958247 129958247 __UNKNOWN__ Intron SNP T T C rs13107038 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:129958247T>C ENST00000281142.5 - 5 794 SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000506368.1_3'UTR NM_144643.2 NP_653244.2 Q96NL6 SCLT1_HUMAN sodium channel and clathrin linker 1 NA NA cilium assembly (GO:0042384)|clustering of voltage-gated sodium channels (GO:0045162) centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|clathrin complex (GO:0071439)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630) sodium channel regulator activity (GO:0017080) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1) 29 gagaaaggacttcttacagga 0.294 NA T||| 405 0.0808706 0.0083 0.1066 5008 , , NA 13502 0.0615 NA 0.1153 False NA ,,, NA NA NA 2504 0.1452 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK055217 CCDS3740.1 4q28.2 2008-05-02 ENSG00000151466 ENSG00000151466 132320 26406 protein-coding gene gene with protein product 611399 NA 15797711 Standard NM_144643 XM_005262732 NA Approved hCAP-1A, FLJ30655 uc003igp.2 Q96NL6 OTTHUMG00000133346 ENST00000281142.5:c.290+1948A>G chr4.hg19:g.129958247T>C NA A4QN04|Q0VAH2|Q6P2M4 hg19 CCDS3740.1 0.02 6.525883 GACxTCT COVERED NOVEL SCLT1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000257176.2 4 15.945981 KEEP 0 0 0 53 1631 TT 1 1 0 - 7 60 264 0 0 16.59809 191 60 7080 306 ENST00000281142.5 0.035354 1 C4orf33 132321 __UNKNOWN__ __UNKNOWN__ 4 130030644 130030644 __UNKNOWN__ Missense_Mutation SNP C C T rs2271570 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:130030644C>T ENST00000281146.5 + 5 1032 c.311C>T c.(310-312)tCg>tTg p.S104L C4orf33_ENST00000502887.1_Missense_Mutation_p.S104L|C4orf33_ENST00000425929.1_Missense_Mutation_p.S104L NM_173487.2 NP_775758.2 Q8N1A6 CD033_HUMAN chromosome 4 open reading frame 33 104 NA S -> L (in dbSNP:rs2271570). endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 10 CTTCCTTTATCGTTCAGAATG 0.343 NA C||| 769 0.153554 0.1225 0.147 5008 , , NA 19990 0.1062 NA 0.1869 False NA ,,, NA NA NA 2504 0.2147 NA NA NA NA 0 C LEU/SER,LEU/SER 569,3837 252.4+/-258.8 31,507,1665 55 53 54 311,311 5.6 0.4 4 dbSNP_100 54 1417,7183 269.6+/-288.5 136,1145,3019 yes missense,missense C4orf33 NM_001099783.1,NM_173487.2 145,145 167,1652,4684 TT,TC,CC 16.4767,12.9142,15.2699 benign,benign 104/200,104/200 130030644 1986,11020 2203 4300 6503 SO:0001583 missense AK091022 CCDS3741.1 4q28.2 2008-02-05 ENSG00000151470 ENSG00000151470 132321 27025 protein-coding gene gene with protein product NA 12477932 Standard NM_173487 NM_001099783 NA Approved FLJ33703 uc010iod.3 Q8N1A6 OTTHUMG00000133347 ENST00000281146.5:c.311C>T chr4.hg19:g.130030644C>T ENSP00000281146:p.Ser104Leu NA D3DNY2|Q6PJF3|Q8NBC5 hg19 CCDS3741.1 0.02 8.313592 TATxGTT COVERED 321|321 0.14697802197802198|0.14697802197802198 59|59 0.11991869918699187|0.11991869918699187 59|59 0.16298342541436464|0.16298342541436464 72|72 0.1258741258741259|0.1258741258741259 131|131 0.17282321899736147|0.17282321899736147 C|C 12.02|12.02 1.812600|1.812600 0.32053|0.32053 0.129142|0.129142 0.164767|0.164767 ENSG00000151470|ENSG00000151470 ENST00000508673|ENST00000281146;ENST00000502887;ENST00000425929 T|T;T;T 0.47177|0.30448 0.85|1.53;1.53;1.53 5.61|5.61 5.61|5.61 0.85477|0.85477 .|. .|0.348406 .|0.30118 .|N .|0.010373 T|T 0.00073|0.00073 0.0002|0.0002 L|L 0.60455|0.60455 1.87|1.87 0.25720|0.25720 P|P 0.9853826|0.9853826 .|P;P .|0.36647 .|0.563;0.563 .|B;B .|0.30495 .|0.116;0.116 T|T 0.10132|0.10132 -1.0643|-1.0643 6|9 0.66056|0.41790 D|T 0.02|0.15 -37.1726|-37.1726 12.5164|12.5164 0.56034|0.56034 0.0:0.9199:0.0:0.0801|0.0:0.9199:0.0:0.0801 rs2271570;rs52810820;rs61544771;rs2271570|rs2271570;rs52810820;rs61544771;rs2271570 .|104;104 .|D6RIT3;Q8N1A6 .|.;CD033_HUMAN C|L 87|104 ENSP00000427096:R87C|ENSP00000281146:S104L;ENSP00000427406:S104L;ENSP00000401090:S104L ENSP00000427096:R87C|ENSP00000281146:S104L R|S +|+ 1|2 0|0 C4orf33|C4orf33 130250094|130250094 0.116000|0.116000 0.22171|0.22171 0.441000|0.441000 0.26858|0.26858 0.362000|0.362000 0.29581|0.29581 1.630000|1.630000 0.37081|0.37081 2.629000|2.629000 0.89072|0.89072 0.655000|0.655000 0.94253|0.94253 CGT|TCG NOVEL C4orf33-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257177.2 1 8.42669 KEEP 0 0 0 28 937 CC 0.999997 0.999997 0 + 13 60 470 0 0 31.16978 231 60 8068 319 ENST00000281146.5 0.053279 1 C4orf33 132321 __UNKNOWN__ __UNKNOWN__ 4 130032843 130032843 __UNKNOWN__ Missense_Mutation SNP A A G rs17351999 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:130032843A>G ENST00000281146.5 + 6 1218 c.497A>G c.(496-498)cAt>cGt p.H166R C4orf33_ENST00000425929.1_Missense_Mutation_p.H166R NM_173487.2 NP_775758.2 Q8N1A6 CD033_HUMAN chromosome 4 open reading frame 33 166 NA H -> R (in dbSNP:rs17351999). {ECO:0000269|PubMed:14702039}. endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 10 GCTTTTAGCCATTGCCTAGAA 0.353 NA A||| 483 0.0964457 0.0083 0.1311 5008 , , NA 16238 0.0655 NA 0.161 False NA ,,, NA NA NA 2504 0.1564 NA NA NA NA 0 A ARG/HIS,ARG/HIS 152,4254 105.6+/-144.1 6,140,2057 111 105 107 497,497 5.8 1 4 dbSNP_123 107 1299,7301 254.3+/-279.6 120,1059,3121 yes missense,missense C4orf33 NM_001099783.1,NM_173487.2 29,29 126,1199,5178 GG,GA,AA 15.1047,3.4498,11.1564 probably-damaging,probably-damaging 166/200,166/200 130032843 1451,11555 2203 4300 6503 SO:0001583 missense AK091022 CCDS3741.1 4q28.2 2008-02-05 ENSG00000151470 ENSG00000151470 132321 27025 protein-coding gene gene with protein product NA 12477932 Standard NM_173487 NM_001099783 NA Approved FLJ33703 uc010iod.3 Q8N1A6 OTTHUMG00000133347 ENST00000281146.5:c.497A>G chr4.hg19:g.130032843A>G ENSP00000281146:p.His166Arg NA D3DNY2|Q6PJF3|Q8NBC5 hg19 CCDS3741.1 0.02 19.184794 GCCxTTG COVERED 222 0.10164835164835165 6 0.012195121951219513 54 0.14917127071823205 46 0.08041958041958042 116 0.15303430079155672 A 20.2 3.955322 0.73902 0.034498 0.151047 ENSG00000151470 ENST00000281146;ENST00000425929 T;T 0.47528 0.84;0.84 5.76 5.76 0.90799 . 0.000000 0.85682 D 0.000000 T 0.00936 0.0031 M 0.86651 2.83 0.09310 P 0.99999999004049 D 0.89917 1.0 D 0.85130 0.997 T 0.30119 -0.9989 9 0.66056 D 0.02 -20.028 15.0534 0.71894 1.0:0.0:0.0:0.0 rs17351999;rs52811016;rs17351999 166 Q8N1A6 CD033_HUMAN R 166 ENSP00000281146:H166R;ENSP00000401090:H166R ENSP00000281146:H166R H + 2 0 C4orf33 130252293 1.000000 0.71417 1.000000 0.80357 0.627000 0.37826 8.045000 0.89436 2.198000 0.70561 0.528000 0.53228 CAT NOVEL C4orf33-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257177.2 5 25.276817 KEEP 0 0 0 84 2678 AA 1 1 0 + 26 60 832 0 0 49.443606 567 60 21042 811 ENST00000281146.5 0.043845 1 C4orf33 132321 __UNKNOWN__ __UNKNOWN__ 4 130034210 130034210 __UNKNOWN__ 3'UTR SNP T T G rs3754476 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:130034210T>G ENST00000281146.5 + 0 2585 NM_173487.2 NP_775758.2 Q8N1A6 CD033_HUMAN chromosome 4 open reading frame 33 NA NA endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 10 CAAGATATATTTTAGAGCATC 0.239 NA T||| 482 0.096246 0.0083 0.1311 5008 , , NA 14932 0.0645 NA 0.161 False NA ,,, NA NA NA 2504 0.1564 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK091022 CCDS3741.1 4q28.2 2008-02-05 ENSG00000151470 ENSG00000151470 132321 27025 protein-coding gene gene with protein product NA 12477932 Standard NM_173487 NM_001099783 NA Approved FLJ33703 uc010iod.3 Q8N1A6 OTTHUMG00000133347 ENST00000281146.5:c.*1264T>G chr4.hg19:g.130034210T>G NA D3DNY2|Q6PJF3|Q8NBC5 hg19 CCDS3741.1 0.02 4.466455 TATxTTA COVERED NOVEL C4orf33-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257177.2 0 8.12245 KEEP 0 0 0 27 837 TT 0.999988 0.999984 0 + 7 60 263 0 0 18.215164 107 70 3847 170 ENST00000281146.5 0.061404 0.999997 C4orf33 132321 __UNKNOWN__ __UNKNOWN__ 4 130034240 130034240 __UNKNOWN__ 3'UTR SNP G G A rs12508824 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:130034240G>A ENST00000281146.5 + 0 2615 NM_173487.2 NP_775758.2 Q8N1A6 CD033_HUMAN chromosome 4 open reading frame 33 NA NA endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 10 GAAGCGAATCGAACACTGTGA 0.214 NA G||| 780 0.155751 0.0983 0.1585 5008 , , NA 15313 0.1071 NA 0.2117 False NA ,,, NA NA NA 2504 0.2239 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK091022 CCDS3741.1 4q28.2 2008-02-05 ENSG00000151470 ENSG00000151470 132321 27025 protein-coding gene gene with protein product NA 12477932 Standard NM_173487 NM_001099783 NA Approved FLJ33703 uc010iod.3 Q8N1A6 OTTHUMG00000133347 ENST00000281146.5:c.*1294G>A chr4.hg19:g.130034240G>A NA D3DNY2|Q6PJF3|Q8NBC5 hg19 CCDS3741.1 0.02 4.117747 ATCxAAC COVERED NOVEL C4orf33-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257177.2 0 7.82492 KEEP 0 0 0 26 871 GG 0.999957 0.999957 0 + 6 60 222 0 0 14.466223 126 70 4448 199 ENST00000281146.5 0.045455 1 PCDH18 54510 __UNKNOWN__ __UNKNOWN__ 4 138440775 138440775 __UNKNOWN__ 3'UTR SNP C C A rs9330354 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:138440775C>A ENST00000344876.4 - 0 5202 PCDH18_ENST00000412923.2_3'UTR NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 NA NA brain development (GO:0007420)|homophilic cell adhesion (GO:0007156) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) CTGAATCACCCGCTCAGGAAG 0.398 NA C||| 1347 0.26897 0.5673 0.2161 5008 , , NA 16247 0.1161 NA 0.173 False NA ,,, NA NA NA 2504 0.1595 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL137471 CCDS34064.1, CCDS75193.1 4q28.3 2010-01-26 ENSG00000189184 ENSG00000189184 54510 Cadherins / Protocadherins : Non-clustered 14268 protein-coding gene gene with protein product 608287 NA 10835267, 11549318 Standard NM_019035 XM_005263070 NA Approved KIAA1562, PCDH68L uc003ihe.4 Q9HCL0 OTTHUMG00000161348 ENST00000344876.4:c.*1408G>T chr4.hg19:g.138440775C>A NA A8K7K3|B7ZKT1|Q52LS2 hg19 CCDS34064.1 0.02 4.546816 ACCxGCT COVERED NOVEL PCDH18-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000364614.1 2 18.057012 KEEP 0 0 0 60 2066 CC 1 1 0 - 8 60 306 0 0 21.102711 132 60 4503 247 ENST00000344876.4 0.057143 1 PCDH18 54510 __UNKNOWN__ __UNKNOWN__ 4 138441530 138441530 __UNKNOWN__ 3'UTR SNP A A G rs9286351 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:138441530A>G ENST00000507846.1 - 0 3951 PCDH18_ENST00000344876.4_3'UTR|PCDH18_ENST00000412923.2_3'UTR Q9HCL0 PCD18_HUMAN protocadherin 18 NA NA brain development (GO:0007420)|homophilic cell adhesion (GO:0007156) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) ATTGACTTTAATTCTGTTTTC 0.338 NA G||| 2770 0.553115 0.8306 0.451 5008 , , NA 15874 0.497 NA 0.4145 False NA ,,, NA NA NA 2504 0.4509 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL137471 CCDS34064.1, CCDS75193.1 4q28.3 2010-01-26 ENSG00000189184 ENSG00000189184 54510 Cadherins / Protocadherins : Non-clustered 14268 protein-coding gene gene with protein product 608287 NA 10835267, 11549318 Standard NM_019035 XM_005263070 NA Approved KIAA1562, PCDH68L uc003ihe.4 Q9HCL0 OTTHUMG00000161348 ENST00000507846.1:c.*653T>C chr4.hg19:g.138441530A>G NA A8K7K3|B7ZKT1|Q52LS2 hg19 0.02 1.973906 TTAxTTC COVERED NOVEL PCDH18-003 NOVEL alternative_5_UTR|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000364616.1 1 7.82391 KEEP 0 0 0 26 830 AA 0.999957 0.996681 0 - 5 60 187 0 0 13.264676 65 60 2347 111 ENST00000507846.1 0.071429 0.996724 PCDH18 54510 __UNKNOWN__ __UNKNOWN__ 4 138449683 138449683 __UNKNOWN__ Silent SNP A A G rs10018837 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:138449683A>G ENST00000507846.1 - 4 2579 c.2026T>C c.(2026-2028)Ttg>Ctg p.L676L PCDH18_ENST00000511115.1_Silent_p.L77L|PCDH18_ENST00000344876.4_Silent_p.L897L|PCDH18_ENST00000412923.2_Silent_p.L896L|PCDH18_ENST00000510305.1_Silent_p.L108L Q9HCL0 PCD18_HUMAN protocadherin 18 897 Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}. NA brain development (GO:0007420)|homophilic cell adhesion (GO:0007156) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) CCTTCACCCAACAGCCTATCT 0.453 NA G||| 2857 0.570487 0.8994 0.4496 5008 , , NA 14896 0.5079 NA 0.4155 False NA ,,, NA NA NA 2504 0.4356 NA NA NA NA 0 G 3535,871 340.2+/-306.1 1428,679,96 188 205 199 2689 4.7 1 4 dbSNP_119 199 3628,4972 625.0+/-397.7 782,2064,1454 no coding-synonymous PCDH18 NM_019035.3 2210,2743,1550 GG,GA,AA 42.186,19.7685,44.9254 897/1136 138449683 7163,5843 2203 4300 6503 SO:0001819 synonymous_variant AL137471 CCDS34064.1, CCDS75193.1 4q28.3 2010-01-26 ENSG00000189184 ENSG00000189184 54510 Cadherins / Protocadherins : Non-clustered 14268 protein-coding gene gene with protein product 608287 NA 10835267, 11549318 Standard NM_019035 XM_005263070 NA Approved KIAA1562, PCDH68L uc003ihe.4 Q9HCL0 OTTHUMG00000161348 ENST00000507846.1:c.2026T>C chr4.hg19:g.138449683A>G NA A8K7K3|B7ZKT1|Q52LS2 hg19 0.02 24.488347 CCAxCAG COVERED NOVEL PCDH18-003 NOVEL alternative_5_UTR|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000364616.1 4 56.875397 KEEP 0 1 34 201 6381 AA 1 1 0 - 27 60 1040 0 0 71.264861 473 60 16956 940 ENST00000507846.1 0.054 1 PCDH18 54510 __UNKNOWN__ __UNKNOWN__ 4 138449812 138449812 __UNKNOWN__ Intron SNP C C G rs10006580 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:138449812C>G ENST00000507846.1 - 4 2467 PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000344876.4_Intron|PCDH18_ENST00000412923.2_Intron|PCDH18_ENST00000510305.1_Intron Q9HCL0 PCD18_HUMAN protocadherin 18 NA NA brain development (GO:0007420)|homophilic cell adhesion (GO:0007156) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) AGATAAATCACAAAAAAAAAT 0.353 NA G||| 2767 0.552516 0.8336 0.4452 5008 , , NA 17658 0.5079 NA 0.4155 False NA ,,, NA NA NA 2504 0.4356 NA NA NA NA 0 G 3332,1074 382.1+/-324.3 1273,786,144 126 142 136 2.3 0 4 dbSNP_119 136 3624,4976 623.1+/-397.4 781,2062,1457 no intron PCDH18 NM_019035.3 2054,2848,1601 GG,GC,CC 42.1395,24.3759,46.517 138449812 6956,6050 2203 4300 6503 SO:0001627 intron_variant AL137471 CCDS34064.1, CCDS75193.1 4q28.3 2010-01-26 ENSG00000189184 ENSG00000189184 54510 Cadherins / Protocadherins : Non-clustered 14268 protein-coding gene gene with protein product 608287 NA 10835267, 11549318 Standard NM_019035 XM_005263070 NA Approved KIAA1562, PCDH68L uc003ihe.4 Q9HCL0 OTTHUMG00000161348 ENST00000507846.1:c.1914-17G>C chr4.hg19:g.138449812C>G NA A8K7K3|B7ZKT1|Q52LS2 hg19 0.02 16.933569 TCAxAAA COVERED NOVEL PCDH18-003 NOVEL alternative_5_UTR|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000364616.1 3 36.555352 KEEP 0 1 39 135 4758 CC 1 1 0 - 15 60 568 0 0 37.075893 335 60 12567 571 ENST00000507846.1 0.042857 1 SLC7A11 23657 __UNKNOWN__ __UNKNOWN__ 4 139163377 139163377 __UNKNOWN__ 5'UTR SNP C C G rs41280525 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:139163377C>G ENST00000280612.5 - 0 126 NM_014331.3 NP_055146.1 Q9UPY5 XCT_HUMAN solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11 NA NA amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|brain development (GO:0007420)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|lens fiber cell differentiation (GO:0070306)|leukocyte migration (GO:0050900)|platelet aggregation (GO:0070527)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085) cell surface (GO:0009986)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791) cystine:glutamate antiporter activity (GO:0015327) breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2) 18 all_hematologic(180;0.166) Acetylcysteine(DB06151)|L-Cystine(DB00138)|Riluzole(DB00740)|Rosuvastatin(DB01098)|Sulfasalazine(DB00795)|Tauroursodeoxycholic acid(DB08834) CAAAGGTGTGCTTTTTCCTTC 0.468 NA C||| 709 0.141573 0.0144 0.1844 5008 , , NA 18790 0.4187 NA 0.0179 False NA ,,, NA NA NA 2504 0.1247 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AB026891 CCDS3742.1 4q28-q32 2013-05-22 2011-07-12 ENSG00000151012 ENSG00000151012 23657 Solute carriers 11059 protein-coding gene gene with protein product 607933 NA 10206947, 12763038 Standard XM_005262875 NA Approved xCT uc021xrw.1 Q9UPY5 OTTHUMG00000133396 ENST00000280612.5:c.-154G>C chr4.hg19:g.139163377C>G NA A8K2U4 hg19 CCDS3742.1 0.02 1.92451 GTGxTTT COVERED NOVEL SLC7A11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257251.2 2 6.922254 KEEP 0 0 0 23 812 CC 0.999892 0.999618 0 - 4 60 148 0 0 9.664339 83 60 3093 128 ENST00000280612.5 0.045977 0.999726 MGARP 84709 __UNKNOWN__ __UNKNOWN__ 4 140188094 140188094 __UNKNOWN__ Missense_Mutation SNP C C T rs3208941 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:140188094C>T ENST00000398955.1 - 4 561 c.382G>A c.(382-384)Gct>Act p.A128T NM_032623.3 NP_116012.2 Q8TDB4 HUMMR_HUMAN mitochondria-localized glutamic acid-rich protein 128 NA A -> T (in dbSNP:rs3208941). anterograde axon cargo transport (GO:0008089)|axon transport of mitochondrion (GO:0019896)|cellular response to gonadotropin-releasing hormone (GO:0097211)|cellular response to hypoxia (GO:0071456)|cellular response to steroid hormone stimulus (GO:0071383)|positive regulation of mitochondrion organization (GO:0010822)|protein targeting to mitochondrion (GO:0006626)|retrograde axon cargo transport (GO:0008090) integral component of mitochondrial outer membrane (GO:0031307)|mitochondrion (GO:0005739) NA ACAACTGTAGCACTGGGACTT 0.517 NA C||| 261 0.0521166 0.0318 0.0476 5008 , , NA 17941 0.1052 NA 0.0507 False NA ,,, NA NA NA 2504 0.0297 NA NA NA NA 0 C THR/ALA 175,3857 4,167,1845 166 159 161 382 5.3 0 4 dbSNP_105 161 567,7815 15,537,3639 yes missense C4orf49 NM_032623.3 58 19,704,5484 TT,TC,CC 6.7645,4.3403,5.9771 possibly-damaging 128/241 140188094 742,11672 2016 4191 6207 SO:0001583 missense AF484960 CCDS43269.1 4q31.1 2014-02-19 2014-02-19 2012-04-17 ENSG00000137463 ENSG00000137463 84709 29969 protein-coding gene gene with protein product ovary-specific acidic protein, corneal endothelium-specific protein 1, hypoxia up-regulated mitochondrial movement regulator chromosome 4 open reading frame 49 C4orf49 NA Standard NM_032623 NM_032623 NA Approved OSAP, CESP-1, HUMMR uc003ihr.1 Q8TDB4 OTTHUMG00000161325 ENST00000398955.1:c.382G>A chr4.hg19:g.140188094C>T ENSP00000381928:p.Ala128Thr NA Q9BZC3 hg19 CCDS43269.1 0.02 22.15105 TAGxACT COVERED 110 0.05036630036630037 17 0.034552845528455285 10 0.027624309392265192 49 0.08566433566433566 34 0.044854881266490766 C 14.42 2.528927 0.44969 0.043403 0.067645 ENSG00000137463 ENST00000398955 T 0.49432 0.78 5.31 5.31 0.75309 . 0.559675 0.18543 N 0.138136 T 0.02047 0.0064 L 0.41710 1.295 0.80722 D 1 P 0.35745 0.518 B 0.36504 0.226 T 0.02059 -1.1221 10 0.87932 D 0 -11.2069 14.4853 0.67614 0.0:1.0:0.0:0.0 rs3208941;rs52834247;rs3208941 128 Q8TDB4 CD049_HUMAN T 128 ENSP00000381928:A128T ENSP00000381928:A128T A - 1 0 C4orf49 140407544 0.000000 0.05858 0.020000 0.16555 0.004000 0.04260 0.517000 0.22832 2.481000 0.83766 0.467000 0.42956 GCT NOVEL MGARP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000364536.1 3 39.464264 KEEP 0 1 31 142 5115 CC 1 1 0 - 15 60 532 0 0 30.121591 568 60 21353 866 ENST00000398955.1 0.025729 1 NAA15 80155 __UNKNOWN__ __UNKNOWN__ 4 140310884 140310884 __UNKNOWN__ 3'UTR SNP C C T rs377033950|rs543152791 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:140310884C>T ENST00000296543.5 + 0 4570 NAA15_ENST00000398947.1_3'UTR|NAA15_ENST00000515576.1_Intron NM_057175.3 NP_476516.1 Q9BXJ9 NAA15_HUMAN N(alpha)-acetyltransferase 15, NatA auxiliary subunit NA NA angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022) NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 TTTTGTGGAACATGTAGTTTA 0.328 NA C||| 1 0.000199681 0.0 0.0 5008 , , NA 18796 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY039242 CCDS43270.1 4q31.1 2010-01-14 2010-01-14 2010-01-14 ENSG00000164134 ENSG00000164134 80155 N(alpha)-acetyltransferase subunits 30782 protein-coding gene gene with protein product 608000 NMDA receptor regulated 1 NARG1 NA 12140756, 11478804, 19660095 Standard NM_057175 XM_005263236 NA Approved TBDN100, NATH, FLJ13340 uc003ihu.1 Q9BXJ9 OTTHUMG00000137363 ENST00000296543.5:c.*1646C>T chr4.hg19:g.140310884C>T NA D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6 hg19 CCDS43270.1 0.02 6.481044 GAAxATG COVERED NOVEL NAA15-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000267839.2 1 11.436493 KEEP 0 0 0 38 1316 CC 1 1 0 + 8 60 297 0 0 19.532297 161 60 6038 239 ENST00000296543.5 0.047337 1 SCOC 60592 __UNKNOWN__ __UNKNOWN__ 4 141264871 141264871 __UNKNOWN__ Intron SNP A A G rs16998462 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:141264871A>G ENST00000506322.1 + 1 108 RP11-425I13.3_ENST00000512692.2_RNA|SCOC_ENST00000394205.3_Intron|SCOC_ENST00000338517.4_Intron|SCOC_ENST00000394203.3_Intron Q9UIL1 SCOC_HUMAN short coiled-coil protein NA NA positive regulation of macroautophagy (GO:0016239) Golgi apparatus (GO:0005794)|membrane (GO:0016020) kidney(1)|large_intestine(1)|lung(2)|skin(1) 5 all_hematologic(180;0.162) AGGTAAGGAAAAAATGGATAA 0.343 NA G||| 1179 0.235423 0.3767 0.1427 5008 , , NA 17549 0.2163 NA 0.1392 False NA ,,, NA NA NA 2504 0.229 NA NA NA NA 0 G ,,,, 1491,2915 276,939,988 96 84 88 ,,,, 0.9 0 4 dbSNP_123 88 1014,7586 57,900,3343 no intron,intron,intron,intron,intron SCOC NM_001153446.1,NM_001153585.1,NM_001153635.1,NM_001153690.1,NM_032547.2 ,,,, 333,1839,4331 GG,GA,AA 11.7907,33.8402,19.2603 ,,,, ,,,, 141264871 2505,10501 2203 4300 6503 SO:0001627 intron_variant AK027797 CCDS3750.1, CCDS54806.1, CCDS54807.1 4q28.3 2014-05-22 2003-03-19 ENSG00000153130 ENSG00000153130 60592 20335 protein-coding gene gene with protein product short coiled coil protein NA 11303027 Standard NM_032547 NA Approved HRIHFB2072, SCOCO uc011che.1 Q9UIL1 OTTHUMG00000133416 ENST00000506322.1:c.-155+9A>G chr4.hg19:g.141264871A>G NA B7WPH7|D3DNY7|E9PB65|Q6P5T9|Q7L2Y0|Q7Z4P2|Q96JY9|Q9BZB2 hg19 0.02 23.038356 GAAxAAA COVERED NOVEL SCOC-009 PUTATIVE alternative_5_UTR|not_organism_supported|basic|appris_candidate protein_coding NA protein_coding OTTHUMT00000364703.1 1 20.155149 KEEP 0 0 0 67 2010 AA 1 1 0 + 18 60 686 1 0 43.444367 488 60 17476 660 ENST00000506322.1 0.035573 1 CLGN 1047 __UNKNOWN__ __UNKNOWN__ 4 141317068 141317068 __UNKNOWN__ Missense_Mutation SNP G G A rs12513290 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:141317068G>A ENST00000325617.5 - 10 1494 c.1054C>T c.(1054-1056)Cgg>Tgg p.R352W CLGN_ENST00000537281.1_Missense_Mutation_p.R352W|CLGN_ENST00000414773.1_Missense_Mutation_p.R352W NM_004362.2 NP_004353.1 O14967 CLGN_HUMAN calmegin 352 NA R -> W (in dbSNP:rs12513290). binding of sperm to zona pellucida (GO:0007339)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)|single fertilization (GO:0007338) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635) calcium ion binding (GO:0005509)|unfolded protein binding (GO:0051082) breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1) 25 all_hematologic(180;0.162) CACCCAATCCGACATGCTGGA 0.433 NA G||| 575 0.114816 0.031 0.1066 5008 , , NA 16562 0.2054 NA 0.0905 False NA ,,, NA NA NA 2504 0.1656 NA NA NA NA 0 G TRP/ARG,TRP/ARG 178,4228 115.4+/-153.4 2,174,2027 95 89 91 1054,1054 2.9 0.5 4 dbSNP_120 91 696,7904 172.2+/-222.9 20,656,3624 yes missense,missense CLGN NM_001130675.1,NM_004362.2 101,101 22,830,5651 AA,AG,GG 8.093,4.0399,6.72 probably-damaging,probably-damaging 352/611,352/611 141317068 874,12132 2203 4300 6503 SO:0001583 missense D86322 CCDS3751.1 4q28.3-q31.1 2008-02-05 ENSG00000153132 ENSG00000153132 1047 2060 protein-coding gene gene with protein product 601858 NA Standard NM_004362 NM_004362 NA Approved uc003iii.3 O14967 OTTHUMG00000133414 ENST00000325617.5:c.1054C>T chr4.hg19:g.141317068G>A ENSP00000326699:p.Arg352Trp NA B3KS90|B4DXV8|D3DNY8 hg19 CCDS3751.1 0.02 8.737227 TCCxACA COVERED 237 0.10851648351648352 9 0.018292682926829267 40 0.11049723756906077 117 0.20454545454545456 71 0.09366754617414248 G 18.84 3.708290 0.68615 0.040399 0.08093 ENSG00000153132 ENST00000325617;ENST00000414773;ENST00000537281;ENST00000545667 T;T;T 0.51071 0.72;0.72;0.72 5.84 2.91 0.33838 Calreticulin/calnexin, P (2); 0.910390 0.09524 N 0.790437 T 0.00039 0.0001 N 0.03983 -0.305 0.42398 P 0.007441000000000031 D 0.61080 0.989 P 0.55303 0.773 T 0.09015 -1.0694 9 0.62326 D 0.03 0.2054 8.164 0.31215 0.0:0.3769:0.4022:0.2209 rs12513290;rs57052004;rs12513290 352 O14967 CLGN_HUMAN W 352;352;352;269 ENSP00000326699:R352W;ENSP00000392782:R352W;ENSP00000439381:R352W ENSP00000326699:R352W R - 1 2 CLGN 141536518 0.997000 0.39634 0.452000 0.26994 0.561000 0.35649 3.127000 0.50484 1.466000 0.48025 -0.320000 0.08662 CGG NOVEL CLGN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257272.2 0 5.415849 KEEP 0 0 0 18 579 GG 0.999859 0.999859 0 - 8 60 304 0 0 18.975507 233 60 7971 312 ENST00000325617.5 0.033195 1 RP11-542P2.1 0 __UNKNOWN__ __UNKNOWN__ 4 141419173 141419173 __UNKNOWN__ Intron SNP G G A rs117691372 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:141419173G>A ENST00000503109.2 - 1 94 RP11-542P2.1_ENST00000515354.1_Intron|RP11-542P2.1_ENST00000511113.1_Intron|RP11-542P2.1_ENST00000511632.1_Intron NA NA NA GGCGGCCGCCGCCAGCTTCCC 0.791 NA G||| 329 0.0656949 0.0454 0.0072 5008 , , NA 8057 0.2341 NA 0.0 False NA ,,, NA NA NA 2504 0.0286 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000503109.2:c.94+109C>T chr4.hg19:g.141419173G>A NA hg19 0.02 1.905408 GCCxCCA COVERED NOVEL RP11-542P2.1-008 NOVEL not_organism_supported|basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000369949.1 1 2.708322 KEEP 0 0 0 9 296 GG 0.99254 0.99154 0 - 6 60 183 0 0 12.009534 72 60 2179 91 ENST00000503109.2 0.076923 0.998993 ELMOD2 255520 __UNKNOWN__ __UNKNOWN__ 4 141472136 141472136 __UNKNOWN__ 3'UTR SNP A A G rs77336746 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:141472136A>G ENST00000323570.3 + 0 1621 NM_153702.3 NP_714913.1 Q8IZ81 ELMD2_HUMAN ELMO/CED-12 domain containing 2 NA NA defense response to virus (GO:0051607)|phagocytosis (GO:0006909)|positive regulation of GTPase activity (GO:0043547)|regulation of defense response to virus (GO:0050688) cytoskeleton (GO:0005856)|membrane (GO:0016020) GTPase activator activity (GO:0005096) endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 7 all_hematologic(180;0.162) TGATGAGAGAATGACAGTATT 0.343 NA A||| 314 0.0626997 0.0446 0.0072 5008 , , NA 16335 0.2242 NA 0.0 False NA ,,, NA NA NA 2504 0.0245 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BX648349 CCDS3752.1 4q31.1 2006-10-24 2006-01-20 ENSG00000179387 ENSG00000179387 255520 28111 protein-coding gene gene with protein product 610196 ELMO domain containing 2 NA 16773575 Standard NM_153702 NM_153702 NA Approved MGC10084 uc003iik.3 Q8IZ81 OTTHUMG00000133417 ENST00000323570.3:c.*607A>G chr4.hg19:g.141472136A>G NA B2R712|D3DNZ0 hg19 CCDS3752.1 0.02 16.220383 AGAxTGA COVERED NOVEL ELMOD2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257277.2 5 15.346574 KEEP 0 0 0 51 1626 AA 1 1 0 + 18 60 688 1 0 46.270268 346 60 12698 492 ENST00000323570.3 0.049451 1 ELMOD2 255520 __UNKNOWN__ __UNKNOWN__ 4 141474403 141474403 __UNKNOWN__ 3'UTR SNP A A C rs74803672 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:141474403A>C ENST00000323570.3 + 0 3888 NM_153702.3 NP_714913.1 Q8IZ81 ELMD2_HUMAN ELMO/CED-12 domain containing 2 NA NA defense response to virus (GO:0051607)|phagocytosis (GO:0006909)|positive regulation of GTPase activity (GO:0043547)|regulation of defense response to virus (GO:0050688) cytoskeleton (GO:0005856)|membrane (GO:0016020) GTPase activator activity (GO:0005096) endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 7 all_hematologic(180;0.162) AAGGTTACACATGATCATGGC 0.393 NA A||| 319 0.0636981 0.0484 0.0072 5008 , , NA 17358 0.2242 NA 0.0 False NA ,,, NA NA NA 2504 0.0245 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BX648349 CCDS3752.1 4q31.1 2006-10-24 2006-01-20 ENSG00000179387 ENSG00000179387 255520 28111 protein-coding gene gene with protein product 610196 ELMO domain containing 2 NA 16773575 Standard NM_153702 NM_153702 NA Approved MGC10084 uc003iik.3 Q8IZ81 OTTHUMG00000133417 ENST00000323570.3:c.*2874A>C chr4.hg19:g.141474403A>C NA B2R712|D3DNZ0 hg19 CCDS3752.1 0.02 4.235494 CACxTGA COVERED NOVEL ELMOD2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257277.2 1 4.814179 KEEP 0 0 0 16 498 AA 0.997832 0.997831 0 + 9 60 322 0 0 22.293023 121 60 4407 170 ENST00000323570.3 0.069231 1 RNF150 57484 __UNKNOWN__ __UNKNOWN__ 4 141974816 141974816 __UNKNOWN__ Intron SNP A A C rs60653888 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:141974816A>C ENST00000515673.2 - 1 518 RNF150_ENST00000306799.3_Intron|RNF150_ENST00000420921.2_Intron|RNF150_ENST00000379512.2_Intron|RNF150_ENST00000507500.1_Intron Q9ULK6 RN150_HUMAN ring finger protein 150 NA NA integral component of membrane (GO:0016021) zinc ion binding (GO:0008270) breast(1)|large_intestine(10)|lung(7)|ovary(1) 19 all_hematologic(180;0.162) AGGCTAAAGCATACCTGAGGA 0.378 NA A||| 730 0.145767 0.1104 0.0259 5008 , , NA 20149 0.4028 NA 0.0557 False NA ,,, NA NA NA 2504 0.1063 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB033040 CCDS34065.1 4q31.1 2013-01-09 ENSG00000170153 ENSG00000170153 57484 RING-type (C3HC4) zinc fingers 23138 protein-coding gene gene with protein product NA 10574462 Standard XM_291090 XM_005263150 NA Approved KIAA1214 uc003iio.1 Q9ULK6 OTTHUMG00000161380 ENST00000515673.2:c.484+78662T>G chr4.hg19:g.141974816A>C NA Q3T1D0|Q6ZNW6 hg19 CCDS34065.1 0.02 36.0334 AGCxTAC COVERED NOVEL RNF150-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000364739.2 2 28.286429 KEEP 0 0 0 94 2998 AA 1 1 0 - 41 60 1540 0 0 105.505117 676 60 25101 995 ENST00000515673.2 0.057183 1 INPP4B 8821 __UNKNOWN__ __UNKNOWN__ 4 142945520 142945520 __UNKNOWN__ 3'UTR SNP A A G rs17015270 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:142945520A>G ENST00000513000.1 - 0 7623 NM_003866.2 NP_003857.2 O15327 INP4B_HUMAN inositol polyphosphate-4-phosphatase, type II, 105kDa NA NA cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|Golgi apparatus (GO:0005794) lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597) breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 all_hematologic(180;0.158) AAAATTGTCAATCAGCTACAC 0.358 NA A||| 696 0.138978 0.2179 0.0418 5008 , , NA 16540 0.2361 NA 0.0378 False NA ,,, NA NA NA 2504 0.1053 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U96922 CCDS3757.1 4q31.1 2008-02-05 2002-08-29 ENSG00000109452 8821 6075 protein-coding gene gene with protein product 607494 inositol polyphosphate-4-phosphatase, type II, 105kD NA 9295334 Standard NM_003866 NM_003866 NA Approved uc003iiw.4 O15327 ENST00000513000.1:c.*4415T>C chr4.hg19:g.142945520A>G NA Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4 hg19 CCDS3757.1 0.02 13.452294 TCAxTCA COVERED NOVEL INPP4B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000364587.1 1 12.338746 KEEP 0 0 0 41 1344 AA 1 1 0 - 10 60 374 0 0 22.603676 329 60 12068 466 ENST00000513000.1 0.029499 1 SMARCA5 8467 __UNKNOWN__ __UNKNOWN__ 4 144442611 144442611 __UNKNOWN__ Silent SNP T T C rs11100790 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:144442611T>C ENST00000283131.3 + 3 744 c.282T>C c.(280-282)taT>taC p.Y94Y NM_003601.3 NP_003592.3 O60264 SMCA5_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 94 NA ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA-templated transcription, initiation (GO:0006352)|double-strand break repair (GO:0006302)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of transcription from RNA polymerase II promoter (GO:0006357) chromatin silencing complex (GO:0005677)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NURF complex (GO:0016589)|RSF complex (GO:0031213) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386) EWSR1/SMARCA5(2) endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_hematologic(180;0.158) GATTCGAGTATTTATTAAAGC 0.353 NA T||| 1463 0.292133 0.2247 0.2594 5008 , , NA 16713 0.6052 NA 0.2078 False NA ,,, NA NA NA 2504 0.1708 NA NA NA NA 0 T 963,3443 357.9+/-314.1 100,763,1340 54 59 58 282 5.6 1 4 dbSNP_120 58 1655,6945 304.8+/-307.1 163,1329,2808 no coding-synonymous SMARCA5 NM_003601.3 263,2092,4148 CC,CT,TT 19.2442,21.8566,20.1292 94/1053 144442611 2618,10388 2203 4300 6503 SO:0001819 synonymous_variant AB010882 CCDS3761.1 4q31.1-q31.2 2011-04-20 ENSG00000153147 ENSG00000153147 8467 11101 protein-coding gene gene with protein product 603375 NA 9730600 Standard NM_003601 NA Approved hSNF2H, hISWI, ISWI uc003ijg.3 O60264 OTTHUMG00000161474 ENST00000283131.3:c.282T>C chr4.hg19:g.144442611T>C NA hg19 CCDS3761.1 0.02 11.46105 GTAxTTA COVERED NOVEL SMARCA5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000365077.3 1 14.709447 KEEP 0 2 69 73 2226 TT 1 1 0 + 16 60 563 0 0 37.567147 255 60 9128 434 ENST00000283131.3 0.059041 1 SMARCA5 8467 __UNKNOWN__ __UNKNOWN__ 4 144446519 144446519 __UNKNOWN__ Intron SNP C C G rs2292362 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:144446519C>G ENST00000283131.3 + 5 982 NM_003601.3 NP_003592.3 O60264 SMCA5_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 NA NA ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA-templated transcription, initiation (GO:0006352)|double-strand break repair (GO:0006302)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of transcription from RNA polymerase II promoter (GO:0006357) chromatin silencing complex (GO:0005677)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NURF complex (GO:0016589)|RSF complex (GO:0031213) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386) EWSR1/SMARCA5(2) endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_hematologic(180;0.158) AAAATAAAGTCAGTAGATATG 0.368 NA C||| 1462 0.291933 0.2247 0.2594 5008 , , NA 18022 0.6042 NA 0.2078 False NA ,,, NA NA NA 2504 0.1708 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB010882 CCDS3761.1 4q31.1-q31.2 2011-04-20 ENSG00000153147 ENSG00000153147 8467 11101 protein-coding gene gene with protein product 603375 NA 9730600 Standard NM_003601 NA Approved hSNF2H, hISWI, ISWI uc003ijg.3 O60264 OTTHUMG00000161474 ENST00000283131.3:c.521-85C>G chr4.hg19:g.144446519C>G NA hg19 CCDS3761.1 0.02 6.68838 AGTxAGT COVERED NOVEL SMARCA5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000365077.3 1 3.747104 KEEP 0 1 33 24 812 CC 0.999931 0.999931 0 + 11 60 407 0 0 27.686059 180 60 6593 225 ENST00000283131.3 0.057592 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 144478669 144478669 __UNKNOWN__ IGR SNP T T A rs6810707|rs386680328 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:144478669T>A NA NA SMARCA5 (30 upstream) : GUSBP5 (1955 downstream) NA NA NA TGTAAACTTTTCTTTATTAGT 0.308 NA T||| 1487 0.296925 0.2428 0.2608 5008 , , NA 18075 0.6042 NA 0.2078 False NA ,,, NA NA NA 2504 0.1708 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.144478669T>A NA hg19 0.02 2.041952 TTTxCTT COVERED NOVEL 0 2 3.611351 KEEP 0 0 0 12 396 TT 0.993634 0.993258 0 5 60 192 0 0 13.32891 80 60 2860 104 0.058824 0.999622 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 144478670 144478670 __UNKNOWN__ IGR SNP C C T rs386680328|rs6828908 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:144478670C>T NA NA SMARCA5 (31 upstream) : GUSBP5 (1954 downstream) NA NA NA GTAAACTTTTCTTTATTAGTC 0.303 NA C||| 1487 0.296925 0.2428 0.2608 5008 , , NA 18076 0.6042 NA 0.2078 False NA ,,, NA NA NA 2504 0.1708 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.144478670C>T NA hg19 0.02 2.024312 TTTxTTT COVERED NOVEL 0 2 3.611854 KEEP 0 0 0 12 428 CC 0.993634 0.993361 0 5 60 185 0 0 12.577253 82 60 3109 106 0.057471 0.999726 OTUD4 54726 __UNKNOWN__ __UNKNOWN__ 4 146054799 146054799 __UNKNOWN__ Intron SNP G G C rs17019900 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:146054799G>C ENST00000455611.2 - 21 2028 Q01804 OTUD4_HUMAN OTU deubiquitinase 4 NA NA protein K48-linked deubiquitination (GO:0071108) poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843) breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) ATCACAAGCAGAATCAAGAGA 0.308 NA G||| 1660 0.33147 0.444 0.3112 5008 , , NA 17659 0.4692 NA 0.1292 False NA ,,, NA NA NA 2504 0.2597 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS3764.1, CCDS47139.1 4q31.21 2014-02-24 2014-02-24 ENSG00000164164 ENSG00000164164 54726 OTU domain containing 24949 protein-coding gene gene with protein product 611744 OTU domain containing 4 NA 1475186, 12727813, 19996094 Standard NM_017493 NM_001102653 NA Approved HSHIN1, KIAA1046, DUBA6 uc003ika.4 Q01804 OTTHUMG00000161480 ENST00000455611.2:c.471-5523C>G chr4.hg19:g.146054799G>C NA B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6 hg19 0.02 27.225442 GCAxAAT COVERED NOVEL OTUD4-009 KNOWN not_organism_supported|not_organism_supported|basic processed_transcript NA protein_coding OTTHUMT00000365402.2 4 32.205708 KEEP 0 0 0 107 3892 GG 1 1 0 - 30 60 1132 0 0 75.149753 600 60 22888 933 ENST00000455611.2 0.047619 1 OTUD4 54726 __UNKNOWN__ __UNKNOWN__ 4 146073850 146073850 __UNKNOWN__ Intron SNP C C T rs12501862 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:146073850C>T ENST00000447906.2 - 11 1061 OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000454497.2_Intron Q01804 OTUD4_HUMAN OTU deubiquitinase 4 NA NA protein K48-linked deubiquitination (GO:0071108) poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843) breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) CTTTGCATTACTTATCAGTTT 0.378 NA C||| 1433 0.286142 0.2821 0.2983 5008 , , NA 16011 0.4683 NA 0.1302 False NA ,,, NA NA NA 2504 0.2556 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS3764.1, CCDS47139.1 4q31.21 2014-02-24 2014-02-24 ENSG00000164164 ENSG00000164164 54726 OTU domain containing 24949 protein-coding gene gene with protein product 611744 OTU domain containing 4 NA 1475186, 12727813, 19996094 Standard NM_017493 NM_001102653 NA Approved HSHIN1, KIAA1046, DUBA6 uc003ika.4 Q01804 OTTHUMG00000161480 ENST00000447906.2:c.874-63G>A chr4.hg19:g.146073850C>T NA B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6 hg19 0.02 4.281673 TTAxTTA COVERED NOVEL OTUD4-004 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000365117.2 1 14.12691 KEEP 0 0 0 47 1595 CC 1 0.999973 0 - 5 60 181 0 0 11.846166 96 70 3493 192 ENST00000447906.2 0.049505 0.999973 OTUD4 54726 __UNKNOWN__ __UNKNOWN__ 4 146077046 146077046 __UNKNOWN__ Intron SNP A A T rs78310000 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:146077046A>T ENST00000447906.2 - 8 878 OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000454497.2_Intron Q01804 OTUD4_HUMAN OTU deubiquitinase 4 NA NA protein K48-linked deubiquitination (GO:0071108) poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843) breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) ATGCTTTCTTATATTAAAGAA 0.323 NA A||| 170 0.0339457 0.0 0.0 5008 , , NA 17022 0.1647 NA 0.0 False NA ,,, NA NA NA 2504 0.0041 NA NA NA NA 0 A 2,4402 4.2+/-10.8 0,2,2200 29 32 31 3.4 0 4 dbSNP_132 31 3,8593 3.0+/-9.4 0,3,4295 no intron OTUD4 NM_001102653.1 0,5,6495 TT,TA,AA 0.0349,0.0454,0.0385 146077046 5,12995 2202 4298 6500 SO:0001627 intron_variant CCDS3764.1, CCDS47139.1 4q31.21 2014-02-24 2014-02-24 ENSG00000164164 ENSG00000164164 54726 OTU domain containing 24949 protein-coding gene gene with protein product 611744 OTU domain containing 4 NA 1475186, 12727813, 19996094 Standard NM_017493 NM_001102653 NA Approved HSHIN1, KIAA1046, DUBA6 uc003ika.4 Q01804 OTTHUMG00000161480 ENST00000447906.2:c.690+41T>A chr4.hg19:g.146077046A>T NA B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6 hg19 0.02 1.977708 CTTxTAT COVERED NOVEL OTUD4-004 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000365117.2 0 7.222004 KEEP 0 0 0 24 755 AA 0.999909 0.999227 0 - 4 60 147 0 0 9.692983 77 60 2769 122 ENST00000447906.2 0.049383 0.999317 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 146298584 146298584 __UNKNOWN__ IGR SNP G G A rs144845539 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:146298584G>A NA NA RP11-142A22.4 (37011 upstream) : SMAD1 (104359 downstream) NA NA NA TGATCCTTCAGAGGGAATATG 0.383 NA g||| 191 0.038139 0.0719 0.0303 5008 , , NA 18435 0.0476 NA 0.0119 False NA ,,, NA NA NA 2504 0.0153 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.146298584G>A NA hg19 0.02 25.987232 TCAxAGG COVERED NOVEL 0 2 19.864355 KEEP 85 0 0 66 2369 GG 1 1 0 16 60 579 0 0 32.525895 675 60 25871 1007 0.023155 1 MMAA 166785 __UNKNOWN__ __UNKNOWN__ 4 146572140 146572140 __UNKNOWN__ Intron SNP G G A rs11721510 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:146572140G>A ENST00000281317.5 + 5 1943 MMAA_ENST00000541599.1_Intron NM_172250.2 NP_758454.1 Q8IVH4 MMAA_HUMAN methylmalonic aciduria (cobalamin deficiency) cblA type NA NA cellular lipid metabolic process (GO:0044255)|cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767) mitochondrial matrix (GO:0005759) GTP binding (GO:0005525)|hydrolase activity (GO:0016787) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1) 17 all_hematologic(180;0.151) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) aagtagaatggaaatggtcaa 0.363 NA A||| 1388 0.277157 0.4909 0.1988 5008 , , NA 20916 0.1032 NA 0.2336 False NA ,,, NA NA NA 2504 0.2679 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF524841 CCDS3766.1 4q31.1 2011-05-12 2005-07-11 ENSG00000151611 166785 18871 protein-coding gene gene with protein product 607481 methylmalonic aciduria (cobalamin deficiency) type A NA 12438653 Standard NM_172250 NA Approved cblA uc003ikh.4 Q8IVH4 ENST00000281317.5:c.734-74G>A chr4.hg19:g.146572140G>A NA B3KX40|Q495G7 hg19 CCDS3766.1 0.02 5.964632 ATGxAAA COVERED NOVEL MMAA-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000364668.2 2 4.514302 KEEP 0 0 0 15 513 GG 0.99649 0.99649 0 + 9 60 324 0 0 21.38681 162 60 5878 201 ENST00000281317.5 0.052632 1 MMAA 166785 __UNKNOWN__ __UNKNOWN__ 4 146576418 146576418 __UNKNOWN__ Missense_Mutation SNP G G C rs2270655 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:146576418G>C ENST00000281317.5 + 7 2299 c.1089G>C c.(1087-1089)caG>caC p.Q363H MMAA_ENST00000541599.1_Missense_Mutation_p.Q82H NM_172250.2 NP_758454.1 Q8IVH4 MMAA_HUMAN methylmalonic aciduria (cobalamin deficiency) cblA type 363 NA Q -> H (in dbSNP:rs2270655). {ECO:0000269|PubMed:15523652}. cellular lipid metabolic process (GO:0044255)|cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767) mitochondrial matrix (GO:0005759) GTP binding (GO:0005525)|hydrolase activity (GO:0016787) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1) 17 all_hematologic(180;0.151) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GGAAGCAACAGAAAGTTTGGA 0.478 NA G||| 405 0.0808706 0.0477 0.0605 5008 , , NA 15287 0.0942 NA 0.0447 False NA ,,, NA NA NA 2504 0.1636 NA NA NA NA 0 GRCh37 CD043682 MMAA D rs2270655 G HIS/GLN 202,4204 128.2+/-165.1 9,184,2010 106 107 107 1089 4.8 1 4 dbSNP_100 107 461,8139 137.8+/-194.7 8,445,3847 yes missense MMAA NM_172250.2 24 17,629,5857 CC,CG,GG 5.3605,4.5847,5.0976 benign 363/419 146576418 663,12343 2203 4300 6503 SO:0001583 missense AF524841 CCDS3766.1 4q31.1 2011-05-12 2005-07-11 ENSG00000151611 166785 18871 protein-coding gene gene with protein product 607481 methylmalonic aciduria (cobalamin deficiency) type A NA 12438653 Standard NM_172250 NA Approved cblA uc003ikh.4 Q8IVH4 ENST00000281317.5:c.1089G>C chr4.hg19:g.146576418G>C ENSP00000281317:p.Gln363His NA B3KX40|Q495G7 hg19 CCDS3766.1 0.02 15.965921 ACAxAAA COVERED 132 0.06043956043956044 22 0.044715447154471545 21 0.058011049723756904 55 0.09615384615384616 34 0.044854881266490766 G 13.49 2.252058 0.39797 0.045847 0.053605 ENSG00000151611 ENST00000281317;ENST00000537246;ENST00000541599 D;D 0.91351 -2.83;-2.83 5.69 4.84 0.62591 . 0.152974 0.64402 N 0.000013 T 0.15912 0.0383 L 0.35793 1.09 0.22050 P 0.999397658 B 0.06786 0.001 B 0.09377 0.004 T 0.65664 -0.6113 9 0.38643 T 0.18 -3.2926 9.8119 0.40828 0.0732:0.1462:0.7807:0.0 rs2270655;rs52810156;rs2270655 363 Q8IVH4 MMAA_HUMAN H 363;363;82 ENSP00000281317:Q363H;ENSP00000442284:Q82H ENSP00000281317:Q363H Q + 3 2 MMAA 146795868 1.000000 0.71417 0.999000 0.59377 0.810000 0.45777 3.159000 0.50731 1.380000 0.46344 0.561000 0.74099 CAG NOVEL MMAA-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000364668.2 2 18.961413 KEEP 0 0 0 63 2235 GG 1 1 0 + 13 60 501 0 0 31.513955 380 60 14541 552 ENST00000281317.5 0.033079 1 PRMT10 0 __UNKNOWN__ __UNKNOWN__ 4 148605099 148605099 __UNKNOWN__ Missense_Mutation SNP C C A rs78226695 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:148605099C>A ENST00000322396.6 - 1 282 c.40G>T c.(40-42)Ggt>Tgt p.G14C PRMT10_ENST00000541232.1_5'UTR NM_138364.2 NP_612373.2 Q6P2P2 ANM9_HUMAN 14 NA cytoplasm (GO:0005737) protein methyltransferase activity (GO:0008276) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 28 CCAGCGCCACCCCCGGCGTCT 0.617 NA C||| 139 0.0277556 0.0 0.0 5008 , , NA 12526 0.1329 NA 0.0 False NA ,,, NA NA NA 2504 0.0051 NA NA NA NA 0 C CYS/GLY 0,4402 0,0,2201 18 22 21 40 -0.5 0 4 dbSNP_131 21 2,8572 0,2,4285 no missense PRMT10 NM_138364.2 159 0,2,6486 AA,AC,CC 0.0233,0.0,0.0154 benign 14/846 148605099 2,12974 2201 4287 6488 SO:0001583 missense NA NA NA NA ENST00000322396.6:c.40G>T chr4.hg19:g.148605099C>A ENSP00000314396:p.Gly14Cys NA A8KA39|B3KU92|Q6ZR58|Q8N383|Q9BT55|Q9NT98 hg19 CCDS3771.1 0.02 5.447003 CACxCCC COVERED 67 0.030677655677655676 0 0.0 0 0.0 66 0.11538461538461539 1 0.0013192612137203166 C 13.05 2.120808 0.37436 0.0 2.33E-4 ENSG00000164169 ENST00000322396 T 0.24723 1.84 4.74 -0.475 0.12104 . 0.949451 0.08852 N 0.884321 T 0.00178 0.0005 N 0.08118 0 0.09310 P 0.999999743948 P 0.44309 0.832 B 0.38954 0.286 T 0.18398 -1.0338 9 0.56958 D 0.05 -5.251 6.4555 0.21928 0.0:0.5878:0.1343:0.2779 . 14 Q6P2P2 ANM10_HUMAN C 14 ENSP00000314396:G14C ENSP00000314396:G14C G - 1 0 PRMT10 148824549 0.000000 0.05858 0.028000 0.17463 0.562000 0.35680 0.306000 0.19279 -0.346000 0.08312 0.644000 0.83932 GGT NOVEL PRMT10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000364650.1 5 64.665292 KEEP 0 0 0 215 7520 CC 1 1 0 - 6 60 206 1 0 11.824354 190 60 6988 529 ENST00000322396.6 0.030612 1 PRMT10 0 __UNKNOWN__ __UNKNOWN__ 4 148605278 148605278 __UNKNOWN__ 5'UTR SNP G G A rs79666177 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:148605278G>A ENST00000322396.6 - 0 103 NM_138364.2 NP_612373.2 Q6P2P2 ANM9_HUMAN NA NA cytoplasm (GO:0005737) protein methyltransferase activity (GO:0008276) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 28 GGGTGAACTCGCCAACCCCAG 0.617 NA G||| 398 0.0794728 0.0666 0.0173 5008 , , NA 16665 0.2351 NA 0.0089 False NA ,,, NA NA NA 2504 0.0532 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant NA NA NA NA ENST00000322396.6:c.-140C>T chr4.hg19:g.148605278G>A NA A8KA39|B3KU92|Q6ZR58|Q8N383|Q9BT55|Q9NT98 hg19 CCDS3771.1 0.02 24.100525 CTCxCCA COVERED NOVEL PRMT10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000364650.1 11 138.098853 KEEP 0 0 0 459 16236 GG 1 1 0 - 21 60 746 0 0 45.847847 534 60 19077 1350 ENST00000322396.6 0.037838 1 ARHGAP10 79658 __UNKNOWN__ __UNKNOWN__ 4 148827933 148827933 __UNKNOWN__ Intron SNP T T C rs10049932 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:148827933T>C ENST00000336498.3 + 11 1355 ARHGAP10_ENST00000414545.2_Intron NM_024605.3 NP_078881.3 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 10 NA NA establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165) cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020) GTPase activator activity (GO:0005096) autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 33 all_hematologic(180;0.151) Renal(17;0.0166) GBM - Glioblastoma multiforme(119;0.0423) CATTCATTTTTATGTTATTTT 0.363 NA T||| 845 0.16873 0.1649 0.2133 5008 , , NA 20172 0.3234 NA 0.0805 False NA ,,, NA NA NA 2504 0.0736 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC047914 CCDS34075.1 4q31.23 2013-09-20 ENSG00000071205 ENSG00000071205 79658 Rho GTPase activating proteins 26099 protein-coding gene gene with protein product 609746 NA 8288572 Standard NM_024605 NM_024605 NA Approved FLJ20896, FLJ41791, GRAF2 uc003ilf.3 A1A4S6 OTTHUMG00000161460 ENST00000336498.3:c.1116+63T>C chr4.hg19:g.148827933T>C NA Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3 hg19 CCDS34075.1 0.02 4.349072 TTTxATG COVERED NOVEL ARHGAP10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000365005.1 3 6.318497 KEEP 0 0 0 21 646 TT 0.999869 0.999867 0 + 5 60 192 0 0 12.617377 112 60 4042 151 ENST00000336498.3 0.042735 0.999998 SH3D19 152503 __UNKNOWN__ __UNKNOWN__ 4 152096684 152096684 __UNKNOWN__ 5'UTR SNP T T C rs77371927 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:152096684T>C ENST00000409252.2 - 0 539 SH3D19_ENST00000514152.1_5'UTR|SH3D19_ENST00000409598.4_5'UTR|SH3D19_ENST00000427414.2_5'UTR|SH3D19_ENST00000604030.1_5'UTR|SH3D19_ENST00000304527.4_5'UTR|SH3D19_ENST00000424281.1_5'UTR|SH3D19_ENST00000455740.1_5'UTR Q5HYK7 SH319_HUMAN SH3 domain containing 19 NA NA cytoskeleton organization (GO:0007010)|membrane organization (GO:0061024)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of cell morphogenesis (GO:0022604) cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886) proline-rich region binding (GO:0070064) autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1) 20 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.138) GTTTTGGCACTGGACATCTTG 0.438 NA T||| 155 0.0309505 0.0 0.0274 5008 , , NA 18308 0.1141 NA 0.0129 False NA ,,, NA NA NA 2504 0.0082 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant BX647422 CCDS34077.2, CCDS47143.1, CCDS47144.1 4q31.3 2009-03-05 2009-03-05 2009-03-05 ENSG00000109686 ENSG00000109686 152503 30418 protein-coding gene gene with protein product EEN binding protein 608674 NA 12477932 Standard NM_001009555 NM_001009555 NA Approved DKFZp434D0215, EVE1, EBP, Kryn, SH3P19 uc010ipl.1 Q5HYK7 OTTHUMG00000154051 ENST00000409252.2:c.-169A>G chr4.hg19:g.152096684T>C NA B7Z296|Q08EK1|Q32N10|Q5U3B8|Q86XB3|Q8N5E7|Q9UFC8 hg19 CCDS34077.2 0.02 5.853724 CACxGGA COVERED NOVEL SH3D19-002 KNOWN not_organism_supported|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000335132.3 4 14.745491 KEEP 0 0 0 49 1563 TT 1 1 0 - 7 60 246 0 0 14.849784 188 60 7018 291 ENST00000409252.2 0.035897 1 FHDC1 85462 __UNKNOWN__ __UNKNOWN__ 4 153881835 153881835 __UNKNOWN__ Intron SNP C C T rs3811834 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:153881835C>T ENST00000511601.1 + 5 937 FHDC1_ENST00000260008.3_Intron Q9C0D6 FHDC1_HUMAN FH2 domain containing 1 NA NA ARFIP1/FHDC1(2) NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 43 all_hematologic(180;0.093) TTATTCTTCACGCAGTAAGAT 0.378 NA C||| 1698 0.339058 0.0946 0.4107 5008 , , NA 16397 0.495 NA 0.3449 False NA ,,, NA NA NA 2504 0.4519 NA NA NA NA 0 C 640,3766 275.4+/-272.5 43,554,1606 104 98 100 1.9 0 4 dbSNP_107 100 2977,5623 459.9+/-365.0 514,1949,1837 no intron FHDC1 NM_033393.2 557,2503,3443 TT,TC,CC 34.6163,14.5256,27.8102 153881835 3617,9389 2203 4300 6503 SO:0001627 intron_variant AB051514 CCDS34081.1 4q31.3 2014-02-12 2007-11-29 ENSG00000137460 ENSG00000137460 85462 29363 protein-coding gene gene with protein product NA 15138637 Standard NM_033393 NM_033393 NA Approved KIAA1727 uc003inf.2 Q9C0D6 OTTHUMG00000161452 ENST00000511601.1:c.749+33C>T chr4.hg19:g.153881835C>T NA hg19 CCDS34081.1 0.02 10.59708 TCAxGCA COVERED NOVEL FHDC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000364981.2 0 12.773136 KEEP 0 1 30 53 1752 CC 1 1 0 + 13 60 479 0 0 31.067328 277 60 9342 388 ENST00000511601.1 0.044828 1 FHDC1 85462 __UNKNOWN__ __UNKNOWN__ 4 153896358 153896358 __UNKNOWN__ Missense_Mutation SNP C C T rs3811833 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:153896358C>T ENST00000511601.1 + 12 2103 c.1915C>T c.(1915-1917)Cgc>Tgc p.R639C FHDC1_ENST00000260008.3_Missense_Mutation_p.R639C Q9C0D6 FHDC1_HUMAN FH2 domain containing 1 639 NA R -> C (in dbSNP:rs3811833). {ECO:0000269|PubMed:11214970}. ARFIP1/FHDC1(2) NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 43 all_hematologic(180;0.093) CAGAGCTCGGCGCCAGGGCGT 0.662 NA C||| 2411 0.48143 0.1445 0.5937 5008 , , NA 17010 0.5466 NA 0.7565 False NA ,,, NA NA NA 2504 0.5072 NA NA NA NA 0 C CYS/ARG 1032,3374 133,766,1304 34 41 38 1915 3.7 0 4 dbSNP_107 38 6539,2059 2526,1487,286 yes missense FHDC1 NM_033393.2 180 2659,2253,1590 TT,TC,CC 23.9474,23.4226,41.7795 probably-damaging 639/1144 153896358 7571,5433 2203 4299 6502 SO:0001583 missense AB051514 CCDS34081.1 4q31.3 2014-02-12 2007-11-29 ENSG00000137460 ENSG00000137460 85462 29363 protein-coding gene gene with protein product NA 15138637 Standard NM_033393 NM_033393 NA Approved KIAA1727 uc003inf.2 Q9C0D6 OTTHUMG00000161452 ENST00000511601.1:c.1915C>T chr4.hg19:g.153896358C>T ENSP00000427567:p.Arg639Cys NA hg19 CCDS34081.1 0.02 8.466111 CGGxGCC COVERED 1192 0.5457875457875457 86 0.17479674796747968 220 0.6077348066298343 312 0.5454545454545454 574 0.7572559366754618 C 16.68 3.191286 0.58017 0.234226 0.760526 ENSG00000137460 ENST00000511601;ENST00000260008 T;T 0.33865 1.39;1.39 5.59 3.68 0.42216 . 0.877857 0.09730 N 0.763302 T 0.00012 0.0000 M 0.68317 2.08 0.80722 P 0.0 D 0.69078 0.997 P 0.47981 0.563 T 0.28681 -1.0036 9 0.66056 D 0.02 . 13.8859 0.63708 0.2464:0.7536:0.0:0.0 rs3811833;rs58685067 639 Q9C0D6 FHDC1_HUMAN C 639 ENSP00000427567:R639C;ENSP00000260008:R639C ENSP00000260008:R639C R + 1 0 FHDC1 154115808 0.000000 0.05858 0.005000 0.12908 0.003000 0.03518 0.141000 0.16076 2.622000 0.88805 0.563000 0.77884 CGC NOVEL FHDC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000364981.2 1 7.725596 KEEP 0 3 92 58 1960 CC 1 1 0 + 7 60 254 0 0 15.346243 208 60 7254 331 ENST00000511601.1 0.032558 1 MND1 84057 __UNKNOWN__ __UNKNOWN__ 4 154315340 154315340 __UNKNOWN__ Intron SNP T T C rs9999596 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:154315340T>C ENST00000504860.1 + 4 274 MND1_ENST00000240488.3_Intron meiotic nuclear divisions 1 homolog (S. cerevisiae) NA NA large_intestine(2)|lung(1) 3 all_hematologic(180;0.093) ctgcacctggTGGACTTTGTT 0.488 NA t||| 944 0.188498 0.2602 0.2089 5008 , , NA 16795 0.2192 NA 0.1282 False NA ,,, NA NA NA 2504 0.1074 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY028916 CCDS3782.1, CCDS75202.1 4q31.3 2008-02-05 ENSG00000121211 ENSG00000121211 84057 24839 protein-coding gene gene with protein product 611422 NA 11940665 Standard NM_032117 NM_032117 NA Approved GAJ uc003ink.2 Q9BWT6 OTTHUMG00000161523 ENST00000504860.1:c.232-74T>C chr4.hg19:g.154315340T>C NA hg19 0.02 6.467531 TGGxGGA COVERED NOVEL MND1-002 PUTATIVE alternative_5_UTR|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000365195.1 0 12.900382 KEEP 0 0 0 43 1269 TT 1 1 0 + 8 60 290 0 0 18.572105 174 60 5900 270 ENST00000504860.1 0.043956 1 RNF175 285533 __UNKNOWN__ __UNKNOWN__ 4 154631563 154631563 __UNKNOWN__ Missense_Mutation SNP T T C rs1339 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:154631563T>C ENST00000347063.4 - 9 1317 c.945A>G c.(943-945)atA>atG p.I315M NM_173662.2 NP_775933 Q8N4F7 RN175_HUMAN ring finger protein 175 315 NA I -> M (in dbSNP:rs1339). integral component of membrane (GO:0016021) zinc ion binding (GO:0008270) breast(1)|endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 13 all_hematologic(180;0.093) Renal(120;0.118) GAACTATTCCTATCACCACAG 0.448 NA T||| 772 0.154153 0.0121 0.1369 5008 , , NA 17106 0.3026 NA 0.2276 False NA ,,, NA NA NA 2504 0.1299 NA NA NA NA 0 T MET/ILE 170,3686 5,160,1763 73 67 69 945 -4.4 1 4 dbSNP_36 69 1714,6552 189,1336,2608 yes missense RNF175 NM_173662.2 10 194,1496,4371 CC,CT,TT 20.7355,4.4087,15.542 possibly-damaging 315/329 154631563 1884,10238 1928 4133 6061 SO:0001583 missense BC034385 CCDS47149.1 4q31.3 2008-02-05 ENSG00000145428 ENSG00000145428 285533 RING-type (C3HC4) zinc fingers 27735 protein-coding gene gene with protein product NA Standard NM_173662 NM_173662 NA Approved FLJ34190 uc003int.3 Q8N4F7 OTTHUMG00000161557 ENST00000347063.4:c.945A>G chr4.hg19:g.154631563T>C ENSP00000340979:p.Ile315Met NA C9JL66|Q8NB61 hg19 CCDS47149.1 0.02 18.714232 TCCxATC COVERED 377 0.17261904761904762 7 0.014227642276422764 61 0.1685082872928177 147 0.256993006993007 162 0.21372031662269128 T 17.50 3.404071 0.62288 0.044087 0.207355 ENSG00000145428 ENST00000347063 T 0.24538 1.85 4.26 -4.42 0.03579 . 0.000000 0.85682 D 0.000000 T 0.00012 0.0000 L 0.45581 1.43 0.09310 P 0.9999999999999412 D 0.63880 0.993 D 0.66351 0.943 T 0.07158 -1.0787 9 0.44086 T 0.13 -9.2525 1.9222 0.03310 0.4798:0.0848:0.2356:0.1998 rs1339;rs52816039;rs57786176;rs1339 315 Q8N4F7 RN175_HUMAN M 315 ENSP00000340979:I315M ENSP00000340979:I315M I - 3 3 RNF175 154851013 0.339000 0.24784 0.965000 0.40720 0.998000 0.95712 -0.465000 0.06680 -0.675000 0.05246 0.533000 0.62120 ATA NOVEL RNF175-001 KNOWN non_canonical_TEC|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000365286.1 4 11.767552 KEEP 0 1 34 51 1578 TT 1 1 0 - 17 60 652 0 0 42.04463 424 60 15709 611 ENST00000347063.4 0.038549 1 DCHS2 54798 __UNKNOWN__ __UNKNOWN__ 4 155241572 155241572 __UNKNOWN__ Missense_Mutation SNP G G A rs11935573 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:155241572G>A ENST00000357232.4 - 14 3613 c.3614C>T c.(3613-3615)tCa>tTa p.S1205L NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 1205 Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}. NA S -> L (in dbSNP:rs11935573). homophilic cell adhesion (GO:0007156) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) p.S1205L(2) NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) TTCATTTCCTGAGAGGATGCT 0.393 NA G||| 1317 0.262979 0.0613 0.2997 5008 , , NA 22015 0.3552 NA 0.3161 False NA ,,, NA NA NA 2504 0.3599 NA NA NA NA 2 Substitution - Missense(2) prostate(1)|stomach(1) G LEU/SER 461,3945 219.1+/-236.9 25,411,1767 186 168 174 3614 5.6 1 4 dbSNP_120 174 2792,5808 442.8+/-360.2 457,1878,1965 yes missense DCHS2 NM_017639.3 145 482,2289,3732 AA,AG,GG 32.4651,10.463,25.0115 probably-damaging 1205/2917 155241572 3253,9753 2203 4300 6503 SO:0001583 missense BC140919 CCDS3785.1, CCDS47150.1 4q32.1 2014-06-04 2013-10-04 2004-09-03 ENSG00000197410 54798 Cadherins / Cadherin-related 23111 protein-coding gene gene with protein product cadherin-related family member 7 612486 cadherin-like 27, dachsous 2 (Drosophila) CDH27, PCDH23 NA 15003449 Standard NM_001142552 NM_017639 NA Approved CDHJ, FLJ20047, PCDHJ, CDHR7 uc003inw.2 Q6V1P9 ENST00000357232.4:c.3614C>T chr4.hg19:g.155241572G>A ENSP00000349768:p.Ser1205Leu NA B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8 hg19 CCDS3785.1 0.02 12.330803 CCTxAGA COVERED 597 0.2733516483516483 25 0.0508130081300813 115 0.31767955801104975 210 0.36713286713286714 247 0.3258575197889182 G 24.6 4.548489 0.86127 0.10463 0.324651 ENSG00000197410 ENST00000357232 T 0.43294 0.95 5.56 5.56 0.83823 Cadherin (4);Cadherin-like (1); 0.455087 0.18369 N 0.143322 T 0.00012 0.0000 M 0.76328 2.33 0.09310 P 1.0 D 0.71674 0.998 P 0.61592 0.891 T 0.26643 -1.0097 9 0.54805 T 0.06 . 14.3837 0.66929 0.0:0.0:0.8522:0.1478 rs11935573;rs52822939;rs61644114;rs11935573 1205 Q6V1P9 PCD23_HUMAN L 1205 ENSP00000349768:S1205L ENSP00000349768:S1205L S - 2 0 DCHS2 155461022 0.953000 0.32496 1.000000 0.80357 0.965000 0.64279 4.281000 0.58965 2.619000 0.88677 0.467000 0.42956 TCA NOVEL DCHS2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000365281.2 2 9.330711 KEEP 0 0 0 31 1119 GG 0.999997 0.999997 0 - 10 60 351 0 0 20.581595 309 60 11884 417 ENST00000357232.4 0.031348 1 DCHS2 54798 __UNKNOWN__ __UNKNOWN__ 4 155256177 155256177 __UNKNOWN__ Silent SNP A A G rs6858157 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:155256177A>G ENST00000357232.4 - 8 1058 c.1059T>C c.(1057-1059)ggT>ggC p.G353G DCHS2_ENST00000339452.1_Silent_p.G852G|DCHS2_ENST00000507542.1_5'UTR NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 353 Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}. NA homophilic cell adhesion (GO:0007156) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) p.G353G(2)|p.G852G(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) CTGTGAGCCCACCACCGTCTT 0.423 NA A||| 1746 0.348642 0.3396 0.3242 5008 , , NA 19216 0.3899 NA 0.3101 False NA ,,, NA NA NA 2504 0.3753 NA NA NA NA 3 Substitution - coding silent(3) prostate(2)|stomach(1) A , 1460,2946 471.8+/-356.2 258,944,1001 103 105 104 2556,1059 -4.3 0.9 4 dbSNP_116 104 2827,5773 446.7+/-361.3 467,1893,1940 no coding-synonymous,coding-synonymous DCHS2 NM_001142552.1,NM_017639.3 , 725,2837,2941 GG,GA,AA 32.8721,33.1366,32.9617 , 852/1370,353/2917 155256177 4287,8719 2203 4300 6503 SO:0001819 synonymous_variant BC140919 CCDS3785.1, CCDS47150.1 4q32.1 2014-06-04 2013-10-04 2004-09-03 ENSG00000197410 54798 Cadherins / Cadherin-related 23111 protein-coding gene gene with protein product cadherin-related family member 7 612486 cadherin-like 27, dachsous 2 (Drosophila) CDH27, PCDH23 NA 15003449 Standard NM_001142552 NM_017639 NA Approved CDHJ, FLJ20047, PCDHJ, CDHR7 uc003inw.2 Q6V1P9 ENST00000357232.4:c.1059T>C chr4.hg19:g.155256177A>G NA B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8 hg19 CCDS3785.1 0.02 10.504719 CCCxCCA COVERED NOVEL DCHS2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000365281.2 2 8.560008 KEEP 0 1 36 41 1262 AA 1 1 0 - 9 60 336 0 0 20.495114 280 60 9942 414 ENST00000357232.4 0.031142 1 FGA 2243 __UNKNOWN__ __UNKNOWN__ 4 155504948 155504948 __UNKNOWN__ 3'UTR SNP G G A rs2070022 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:155504948G>A ENST00000302053.3 - 0 3007 NM_000508.3 NP_000499.1 P02671 FIBA_HUMAN fibrinogen alpha chain NA NA blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165) blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982) structural molecule activity (GO:0005198) NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) TGGGTGGTATGGGAAGAGAAG 0.358 NA G||| 901 0.179912 0.1089 0.3343 5008 , , NA 15239 0.1052 NA 0.1799 False NA ,,, NA NA NA 2504 0.2434 NA NA NA NSCLC(143;340 1922 20892 22370 48145) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS3787.1, CCDS47152.1 4q28 2014-09-17 ENSG00000171560 ENSG00000171560 2243 Fibrinogen C domain containing, Endogenous ligands 3661 protein-coding gene gene with protein product 134820 fibrinogen, A alpha polypeptide NA Standard NM_000508 NM_000508 NA Approved uc003iod.1 P02671 OTTHUMG00000150330 ENST00000302053.3:c.*328C>T chr4.hg19:g.155504948G>A NA A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2 hg19 CCDS3787.1 0.02 9.455422 TATxGGA COVERED NOVEL FGA-002 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000317593.1 1 3.343802 KEEP 0 1 25 20 692 GG 0.999869 0.999869 0 - 8 60 310 0 0 19.961322 208 60 7869 280 ENST00000302053.3 0.037037 1 MAP9 79884 __UNKNOWN__ __UNKNOWN__ 4 156274377 156274377 __UNKNOWN__ Missense_Mutation SNP T T C rs1058992 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:156274377T>C ENST00000311277.4 - 11 1759 c.1496A>G c.(1495-1497)aAg>aGg p.K499R AC097467.2_ENST00000608463.1_RNA|AC097467.2_ENST00000609716.1_RNA|AC097467.2_ENST00000608092.1_RNA|AC097467.2_ENST00000593387.2_RNA|AC097467.2_ENST00000608762.1_RNA|AC097467.2_ENST00000609254.1_RNA|AC097467.2_ENST00000597939.1_RNA|AC097467.2_ENST00000601977.1_RNA|AC097467.2_ENST00000610249.1_RNA|AC097467.2_ENST00000609486.1_RNA|AC097467.2_ENST00000598252.1_RNA|AC097467.2_ENST00000608544.1_RNA|MAP9_ENST00000515654.1_Missense_Mutation_p.K475R|AC097467.2_ENST00000608406.1_RNA NM_001039580.1 NP_001034669.1 Q49MG5 MAP9_HUMAN microtubule-associated protein 9 499 NA K -> R (in dbSNP:rs1058992). cytokinesis (GO:0000910)|regulation of mitosis (GO:0007088)|spindle assembly involved in mitosis (GO:0090307) astral microtubule (GO:0000235)|mitotic spindle midzone (GO:1990023) p.K499R(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 26 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.143) TTCAGTTTTCTTCTTGTTTTT 0.333 NA T||| 2048 0.408946 0.6104 0.3228 5008 , , NA 14025 0.5863 NA 0.2247 False NA ,,, NA NA NA 2504 0.2045 NA NA NA NA 1 Substitution - Missense(1) prostate(1) T ARG/LYS 2319,2085 603.3+/-390.1 631,1057,514 108 104 106 1496 4.1 1 4 dbSNP_86 106 1857,6739 332.3+/-320.0 193,1471,2634 yes missense MAP9 NM_001039580.1 26 824,2528,3148 CC,CT,TT 21.6031,47.3433,32.1231 probably-damaging 499/648 156274377 4176,8824 2202 4298 6500 SO:0001583 missense AK024812 CCDS35493.1 4q32.1 2008-02-05 ENSG00000164114 ENSG00000164114 79884 26118 protein-coding gene gene with protein product aster-associated protein 610070 NA 16049101 Standard NM_001039580 XM_006714306 NA Approved ASAP, FLJ21159 uc003ios.3 Q49MG5 OTTHUMG00000133628 ENST00000311277.4:c.1496A>G chr4.hg19:g.156274377T>C ENSP00000310593:p.Lys499Arg NA Q4W5I7|Q68DU1|Q9H781|Q9H7B6 hg19 CCDS35493.1 0.02 4.02121 TTCxTCT COVERED 921 0.4217032967032967 307 0.6239837398373984 104 0.287292817679558 329 0.5751748251748252 181 0.23878627968337732 T 10.92 1.487296 0.26686 0.526567 0.216031 ENSG00000164114 ENST00000311277;ENST00000515654 T;T 0.09445 2.98;2.98 5.23 4.05 0.47172 . 0.402707 0.28700 N 0.014428 T 0.00012 0.0000 M 0.69823 2.125 0.09310 P 0.9999999999743422 B;B;B 0.32203 0.169;0.36;0.169 B;B;B 0.32022 0.091;0.139;0.091 T 0.19321 -1.0309 9 0.19147 T 0.46 -13.891 8.6845 0.34229 0.0:0.0879:0.0:0.9121 rs17357030 474;499;499 B4DVG9;B9EJB6;Q49MG5 .;.;MAP9_HUMAN R 499;475 ENSP00000310593:K499R;ENSP00000427402:K475R ENSP00000310593:K499R K - 2 0 MAP9 156493827 0.914000 0.31030 1.000000 0.80357 0.991000 0.79684 0.012000 0.13287 0.930000 0.37217 0.533000 0.62120 AAG NOVEL MAP9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257771.3 1 11.434856 KEEP 0 0 0 38 1212 TT 1 1 0 - 7 60 255 0 0 16.708186 136 60 4980 200 ENST00000311277.4 0.048951 1 MAP9 79884 __UNKNOWN__ __UNKNOWN__ 4 156281371 156281371 __UNKNOWN__ Silent SNP T T C rs17032893 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:156281371T>C ENST00000311277.4 - 7 1262 c.999A>G c.(997-999)ctA>ctG p.L333L AC097467.2_ENST00000417474.1_RNA|AC097467.2_ENST00000596165.1_RNA|AC097467.2_ENST00000609716.1_RNA|AC097467.2_ENST00000600928.1_RNA|AC097467.2_ENST00000594492.1_RNA|AC097467.2_ENST00000608762.1_RNA|AC097467.2_ENST00000609254.1_RNA|AC097467.2_ENST00000594666.1_RNA|AC097467.2_ENST00000597831.1_RNA|AC097467.2_ENST00000596754.1_RNA|AC097467.2_ENST00000598252.1_RNA|AC097467.2_ENST00000608544.1_RNA|AC097467.2_ENST00000598890.1_RNA|MAP9_ENST00000515654.1_Silent_p.L309L|AC097467.2_ENST00000608406.1_RNA NM_001039580.1 NP_001034669.1 Q49MG5 MAP9_HUMAN microtubule-associated protein 9 333 NA cytokinesis (GO:0000910)|regulation of mitosis (GO:0007088)|spindle assembly involved in mitosis (GO:0090307) astral microtubule (GO:0000235)|mitotic spindle midzone (GO:1990023) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 26 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.143) GAGATTTAGATAGTAGTGGAT 0.348 NA T||| 804 0.160543 0.118 0.1974 5008 , , NA 17087 0.4345 NA 0.0258 False NA ,,, NA NA NA 2504 0.0481 NA NA NA NA 0 T 412,3994 201.8+/-224.7 17,378,1808 136 128 131 999 -8.4 0 4 dbSNP_123 131 148,8452 73.2+/-135.9 2,144,4154 no coding-synonymous MAP9 NM_001039580.1 19,522,5962 CC,CT,TT 1.7209,9.3509,4.3057 333/648 156281371 560,12446 2203 4300 6503 SO:0001819 synonymous_variant AK024812 CCDS35493.1 4q32.1 2008-02-05 ENSG00000164114 ENSG00000164114 79884 26118 protein-coding gene gene with protein product aster-associated protein 610070 NA 16049101 Standard NM_001039580 XM_006714306 NA Approved ASAP, FLJ21159 uc003ios.3 Q49MG5 OTTHUMG00000133628 ENST00000311277.4:c.999A>G chr4.hg19:g.156281371T>C NA Q4W5I7|Q68DU1|Q9H781|Q9H7B6 hg19 CCDS35493.1 0.02 10.730445 AGAxAGT COVERED NOVEL MAP9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257771.3 0 12.935346 KEEP 0 0 0 43 1283 TT 1 1 0 - 12 60 450 0 0 29.10604 274 60 9908 374 ENST00000311277.4 0.041958 1 MAP9 79884 __UNKNOWN__ __UNKNOWN__ 4 156294259 156294259 __UNKNOWN__ Intron SNP A A G rs12642218 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:156294259A>G ENST00000311277.4 - 4 745 AC097467.2_ENST00000596165.1_RNA|MAP9_ENST00000379248.2_Intron|MAP9_ENST00000515654.1_Intron NM_001039580.1 NP_001034669.1 Q49MG5 MAP9_HUMAN microtubule-associated protein 9 NA NA cytokinesis (GO:0000910)|regulation of mitosis (GO:0007088)|spindle assembly involved in mitosis (GO:0090307) astral microtubule (GO:0000235)|mitotic spindle midzone (GO:1990023) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 26 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.143) CTTCCAAGAAATGCAATTACA 0.264 NA A||| 198 0.0395367 0.0008 0.1715 5008 , , NA 17426 0.0655 NA 0.008 False NA ,,, NA NA NA 2504 0.0041 NA NA NA NA 0 A 12,4356 0,12,2172 17 18 18 -0.7 0 4 dbSNP_120 18 9,8555 0,9,4273 no intron MAP9 NM_001039580.1 0,21,6445 GG,GA,AA 0.1051,0.2747,0.1624 156294259 21,12911 2184 4282 6466 SO:0001627 intron_variant AK024812 CCDS35493.1 4q32.1 2008-02-05 ENSG00000164114 ENSG00000164114 79884 26118 protein-coding gene gene with protein product aster-associated protein 610070 NA 16049101 Standard NM_001039580 XM_006714306 NA Approved ASAP, FLJ21159 uc003ios.3 Q49MG5 OTTHUMG00000133628 ENST00000311277.4:c.481+28T>C chr4.hg19:g.156294259A>G NA Q4W5I7|Q68DU1|Q9H781|Q9H7B6 hg19 CCDS35493.1 0.02 4.681792 GAAxTGC COVERED NOVEL MAP9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257771.3 1 9.630205 KEEP 0 0 0 32 1053 AA 0.999997 0.999997 0 - 9 60 332 0 0 23.110212 127 60 4604 212 ENST00000311277.4 0.066176 1 TMEM144 55314 __UNKNOWN__ __UNKNOWN__ 4 159175039 159175039 __UNKNOWN__ 3'UTR SNP T T C rs41494044 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:159175039T>C ENST00000296529.6 + 0 1918 TMEM144_ENST00000503404.1_3'UTR NM_018342.4 NP_060812.2 Q7Z5S9 TM144_HUMAN transmembrane protein 144 NA NA integral component of membrane (GO:0016021) autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1) 19 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0539) GAAGTTACAGTCCATATTTCT 0.388 NA T||| 766 0.152955 0.1641 0.2003 5008 , , NA 20481 0.0565 NA 0.2386 False NA ,,, NA NA NA 2504 0.1155 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK002017 CCDS3799.1 4q32.1 2008-02-05 ENSG00000164124 ENSG00000164124 55314 25633 protein-coding gene gene with protein product NA 12477932 Standard NM_018342 NM_018342 NA Approved FLJ11155 uc003ipx.3 Q7Z5S9 OTTHUMG00000162013 ENST00000296529.6:c.*360T>C chr4.hg19:g.159175039T>C NA D3DP24|Q49A05|Q9NUT3 hg19 CCDS3799.1 0.02 8.169899 CAGxCCA COVERED NOVEL TMEM144-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000365597.1 0 18.355356 KEEP 0 0 0 61 1961 TT 1 1 0 + 7 60 255 0 0 15.291578 219 60 7828 356 ENST00000296529.6 0.030973 1 C4orf45 152940 __UNKNOWN__ __UNKNOWN__ 4 159894391 159894391 __UNKNOWN__ Missense_Mutation SNP G G A rs17037864 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:159894391G>A ENST00000434826.2 - 2 221 c.137C>T c.(136-138)gCg>gTg p.A46V C4orf45_ENST00000508011.1_5'UTR NM_152543.2 NP_689756.2 Q96LM5 CD045_HUMAN chromosome 4 open reading frame 45 46 NA A -> V (in dbSNP:rs17037864). large_intestine(2)|lung(3) 5 TTTTTCTAACGCCAGATGCTG 0.378 NA G||| 774 0.154553 0.0 0.0591 5008 , , NA 15858 0.3333 NA 0.1322 False NA ,,, NA NA NA 2504 0.2699 NA NA NA NA 0 G VAL/ALA 105,3549 1,103,1723 90 78 82 137 -4.9 0 4 dbSNP_123 82 998,7172 57,884,3144 yes missense C4orf45 NM_152543.2 64 58,987,4867 AA,AG,GG 12.2154,2.8736,9.3285 benign 46/187 159894391 1103,10721 1827 4085 5912 SO:0001583 missense CCDS47156.1 4q32.1 2012-03-02 ENSG00000164123 ENSG00000164123 152940 26342 protein-coding gene gene with protein product NA Standard NM_152543 NM_152543 NA Approved FLJ25371 uc003iqf.1 Q96LM5 OTTHUMG00000161988 ENST00000434826.2:c.137C>T chr4.hg19:g.159894391G>A ENSP00000412215:p.Ala46Val NA A8MPU3|C9J0T8 hg19 CCDS47156.1 0.02 8.313728 AACxCCA COVERED 322 0.14743589743589744 0 0.0 28 0.07734806629834254 192 0.3356643356643357 102 0.1345646437994723 G 3.724 -0.056991 0.07317 0.028736 0.122154 ENSG00000164123 ENST00000434826 T 0.15139 2.45 5.73 -4.88 0.03113 . 1.086240 0.06999 N 0.823032 T 0.00012 0.0000 L 0.38838 1.175 0.80722 P 0.0 B 0.14012 0.009 B 0.08055 0.003 T 0.48091 -0.9065 8 . . . -0.2266 7.1752 0.25740 0.3933:0.0:0.4927:0.114 rs17037864;rs59308484;rs17037864 46 Q96LM5 CD045_HUMAN V 46 ENSP00000412215:A46V . A - 2 0 C4orf45 160113841 0.000000 0.05858 0.000000 0.03702 0.058000 0.15608 -0.894000 0.04123 -0.952000 0.03649 -0.345000 0.07892 GCG NOVEL C4orf45-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000366636.1 0 6.320405 KEEP 0 0 0 21 724 GG 0.999869 0.999869 0 - 8 60 275 0 0 16.589106 202 60 7138 283 ENST00000434826.2 0.038095 1 TKTL2 84076 __UNKNOWN__ __UNKNOWN__ 4 164393117 164393117 __UNKNOWN__ Missense_Mutation SNP T T A rs11735477 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:164393117T>A ENST00000280605.3 - 1 1930 c.1770A>T c.(1768-1770)caA>caT p.Q590H NM_032136.4 NP_115512.3 Q9H0I9 TKTL2_HUMAN transketolase-like 2 590 NA Q -> H (in dbSNP:rs11735477). {ECO:0000269|PubMed:15489334}. cytoplasm (GO:0005737) metal ion binding (GO:0046872)|transketolase activity (GO:0004802) p.Q590H(1) breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 70 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) ACACTGCCAGTTGATGAACAA 0.488 NA T||| 856 0.170927 0.1445 0.0778 5008 , , NA 19406 0.2867 NA 0.1909 False NA ,,, NA NA NA 2504 0.1329 NA NA NA NA 1 Substitution - Missense(1) prostate(1) T HIS/GLN 705,3701 294.1+/-283.0 67,571,1565 95 85 88 1770 -1.2 0.2 4 dbSNP_120 88 1588,7012 296.5+/-302.9 156,1276,2868 yes missense TKTL2 NM_032136.4 24 223,1847,4433 AA,AT,TT 18.4651,16.0009,17.6303 benign 590/627 164393117 2293,10713 2203 4300 6503 SO:0001583 missense BC028707 CCDS3805.1 4q32.2 2009-10-06 ENSG00000151005 ENSG00000151005 84076 25313 protein-coding gene gene with protein product similar to transketolase NA 11230166 Standard NM_032136 NM_032136 NA Approved FLJ32975, DKFZP434L1717 uc003iqp.4 Q9H0I9 OTTHUMG00000161527 ENST00000280605.3:c.1770A>T chr4.hg19:g.164393117T>A ENSP00000280605:p.Gln590His NA A4FVB4|Q8NCT0|Q96M82 hg19 CCDS3805.1 0.02 14.943795 CAGxTGA COVERED 420 0.19230769230769232 71 0.1443089430894309 32 0.08839779005524862 163 0.28496503496503495 154 0.20316622691292877 T 0.934 -0.711875 0.03206 0.160009 0.184651 ENSG00000151005 ENST00000280605 D 0.90955 -2.76 5.16 -1.18 0.09617 Transketolase, C-terminal (1);Transketolase, C-terminal/Pyruvate-ferredoxin oxidoreductase, domain II (1);Transketolase-like, C-terminal (1); 0.302904 0.31082 N 0.008282 T 0.00012 0.0000 N 0.17594 0.5 0.80722 P 0.0 B 0.14012 0.009 B 0.15052 0.012 T 0.05289 -1.0894 9 0.08179 T 0.78 -8.7736 2.0063 0.03478 0.1287:0.2479:0.3786:0.2447 rs11735477;rs17656580;rs52837438;rs11735477 590 Q9H0I9 TKTL2_HUMAN H 590 ENSP00000280605:Q590H ENSP00000280605:Q590H Q - 3 2 TKTL2 164612567 0.003000 0.15002 0.204000 0.23530 0.935000 0.57460 -0.689000 0.05144 -0.076000 0.12775 -0.137000 0.14449 CAA NOVEL TKTL2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000365207.1 1 15.64851 KEEP 0 0 0 52 1685 TT 1 1 0 - 10 60 369 0 0 21.682097 363 60 13096 546 ENST00000280605.3 0.02681 1 MARCH1 55016 __UNKNOWN__ __UNKNOWN__ 4 165118253 165118253 __UNKNOWN__ Intron SNP T T C rs2288676 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:165118253T>C ENST00000503008.1 - 2 864 MARCH1_ENST00000508725.1_Intron|MARCH1_ENST00000514618.1_Intron NM_001166373.1 NP_001159845.1 Q8TCQ1 MARH1_HUMAN membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase NA NA antigen processing and presentation of peptide antigen via MHC class II (GO:0002495)|immune response (GO:0006955)|protein polyubiquitination (GO:0000209) cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588) ligase activity (GO:0016874)|MHC protein binding (GO:0042287)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) ttcatcctcctcgtcccctcc 0.512 NA T||| 600 0.119808 0.0053 0.2147 5008 , , NA 17052 0.1696 NA 0.0746 False NA ,,, NA NA NA 2504 0.2025 NA NA NA NA 0 T ,GLY/GLU 56,4350 53.6+/-89.4 1,54,2148 221 172 189 ,611 0.2 0.1 4 dbSNP_100 189 556,8044 149.4+/-204.5 21,514,3765 no intron,missense ANP32C,MARCH1 NM_001166373.1,NM_012403.1 ,98 22,568,5913 CC,CT,TT 6.4651,1.271,4.7055 ,benign ,204/235 165118253 612,12394 2203 4300 6503 SO:0001627 intron_variant AK000675 CCDS3806.1, CCDS54814.1 4q32.2 2013-01-09 2012-02-23 ENSG00000145416 55016 MARCH membrane-associated ring fingers, RING-type (C3HC4) zinc fingers 26077 protein-coding gene gene with protein product 613331 membrane-associated ring finger (C3HC4) 1 NA 14722266 Standard NM_017923 NM_017923 NA Approved FLJ20668, MARCH-I, RNF171 uc003iqs.2 Q8TCQ1 ENST00000503008.1:c.113-85439A>G chr4.hg19:g.165118253T>C NA D3DP29|Q9NWR0 hg19 CCDS54814.1 0.02 21.044067 TCCxCGT COVERED NOVEL MARCH1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000364493.2 8 19.255785 KEEP 0 0 0 64 1969 TT 1 1 0 - 25 60 929 0 0 62.102668 460 60 15474 656 ENST00000503008.1 0.051546 1 KLHL2 11275 __UNKNOWN__ __UNKNOWN__ 4 166243037 166243037 __UNKNOWN__ Intron SNP A A C rs57823891 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:166243037A>C ENST00000514860.1 + 15 2015 KLHL2_ENST00000506761.1_Intron|KLHL2_ENST00000538127.1_Intron|KLHL2_ENST00000226725.6_Intron|KLHL2_ENST00000509028.1_Intron|KLHL2_ENST00000421009.2_Intron O95198 KLHL2_HUMAN kelch-like family member 2 NA NA protein ubiquitination (GO:0016567) actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737) actin binding (GO:0003779) endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1) 14 all_hematologic(180;0.221) GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927) TCAAATGATAATACTACTAAA 0.308 NA C||| 455 0.0908546 0.2065 0.0216 5008 , , NA 17594 0.122 NA 0.0219 False NA ,,, NA NA NA 2504 0.0225 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF059569 CCDS34094.1, CCDS54815.1, CCDS54816.1 4q21.2 2013-01-30 2013-01-30 ENSG00000109466 ENSG00000109466 11275 Kelch-like, BTB/POZ domain containing 6353 protein-coding gene gene with protein product mayven 605774 kelch (Drosophila)-like 2 (Mayven), kelch-like 2, Mayven (Drosophila) NA 10397770, 16035103 Standard NM_007246 NA Approved MAV uc011cjm.2 O95198 OTTHUMG00000161294 ENST00000514860.1:c.1766-147A>C chr4.hg19:g.166243037A>C NA A6NCM7|B2RD18|B4DFH7|F5H6M3|Q8N484|Q8TBH5 hg19 CCDS54815.1 0.02 1.789702 ATAxTAC COVERED NOVEL KLHL2-002 PUTATIVE basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000364440.1 1 2.406097 KEEP 0 0 0 8 235 AA 0.99257 0.992433 0 + 6 60 224 0 0 15.69155 84 60 2938 99 ENST00000514860.1 0.066667 0.999862 CPE 1363 __UNKNOWN__ __UNKNOWN__ 4 166403504 166403504 __UNKNOWN__ Silent SNP G G A rs80117208 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:166403504G>A ENST00000402744.4 + 4 1063 c.783G>A c.(781-783)acG>acA p.T261T NM_001873.2 NP_001864.1 P16870 CBPE_HUMAN carboxypeptidase E 261 NA cardiac left ventricle morphogenesis (GO:0003214)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|insulin processing (GO:0030070)|metabolic process (GO:0008152)|neuropeptide signaling pathway (GO:0007218)|protein localization to membrane (GO:0072657) extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667) carboxypeptidase activity (GO:0004180)|cell adhesion molecule binding (GO:0050839)|metallocarboxypeptidase activity (GO:0004181)|neurexin family protein binding (GO:0042043)|zinc ion binding (GO:0008270) endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 26 all_hematologic(180;0.221) Prostate(90;0.0962)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.137) "Insulin(DB00071)|Insulin Regular(DB00030) ATGATGAGACGCGGAGTGGTA 0.373 NA G||| 42 0.00838658 0.0008 0.0 5008 , , NA 17191 0.0407 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 G 0,4406 0,0,2203 170 154 160 783 -10.9 0 4 dbSNP_132 160 1,8599 1.2+/-3.3 0,1,4299 no coding-synonymous CPE NM_001873.2 0,1,6502 AA,AG,GG 0.0116,0.0,0.0077 261/477 166403504 1,13005 2203 4300 6503 SO:0001819 synonymous_variant X51405 CCDS3810.1 4q32.3 2012-02-10 ENSG00000109472 ENSG00000109472 1363 3.4.17.10 2303 protein-coding gene gene with protein product carboxypeptidase H, enkephalin convertase, insulin granule-associated carboxypeptidase, cobalt-stimulated chromaffin granule carboxypeptidase 114855 NA 2334405 Standard NM_001873 NM_001873 NA Approved uc003irg.4 P16870 OTTHUMG00000150252 ENST00000402744.4:c.783G>A chr4.hg19:g.166403504G>A NA A8K4N1|B3KR42|B4DFN4|D3DP33|Q9UIU9 hg19 CCDS3810.1 0.02 8.412466 GACxCGG COVERED NOVEL CPE-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000317094.2 1 9.631286 KEEP 0 0 0 32 1125 GG 0.999997 0.999997 0 + 7 60 259 0 0 15.457336 237 60 8550 335 ENST00000402744.4 0.028689 1 CPE 1363 __UNKNOWN__ __UNKNOWN__ 4 166405584 166405584 __UNKNOWN__ Silent SNP C C T rs4690821 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:166405584C>T ENST00000402744.4 + 5 1081 c.801C>T c.(799-801)caC>caT p.H267H NM_001873.2 NP_001864.1 P16870 CBPE_HUMAN carboxypeptidase E 267 NA cardiac left ventricle morphogenesis (GO:0003214)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|insulin processing (GO:0030070)|metabolic process (GO:0008152)|neuropeptide signaling pathway (GO:0007218)|protein localization to membrane (GO:0072657) extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667) carboxypeptidase activity (GO:0004180)|cell adhesion molecule binding (GO:0050839)|metallocarboxypeptidase activity (GO:0004181)|neurexin family protein binding (GO:0042043)|zinc ion binding (GO:0008270) endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 26 all_hematologic(180;0.221) Prostate(90;0.0962)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.137) "Insulin(DB00071)|Insulin Regular(DB00030) GTAGTGCTCACGAATACAGCT 0.468 NA C||| 300 0.0599042 0.0038 0.0274 5008 , , NA 18358 0.1458 NA 0.0636 False NA ,,, NA NA NA 2504 0.0665 NA NA NA NA 0 C 59,4347 58.1+/-94.6 2,55,2146 233 229 231 801 -3.1 1 4 dbSNP_111 231 483,8117 140.9+/-197.4 12,459,3829 no coding-synonymous CPE NM_001873.2 14,514,5975 TT,TC,CC 5.6163,1.3391,4.1673 267/477 166405584 542,12464 2203 4300 6503 SO:0001819 synonymous_variant X51405 CCDS3810.1 4q32.3 2012-02-10 ENSG00000109472 ENSG00000109472 1363 3.4.17.10 2303 protein-coding gene gene with protein product carboxypeptidase H, enkephalin convertase, insulin granule-associated carboxypeptidase, cobalt-stimulated chromaffin granule carboxypeptidase 114855 NA 2334405 Standard NM_001873 NM_001873 NA Approved uc003irg.4 P16870 OTTHUMG00000150252 ENST00000402744.4:c.801C>T chr4.hg19:g.166405584C>T NA A8K4N1|B3KR42|B4DFN4|D3DP33|Q9UIU9 hg19 CCDS3810.1 0.02 12.829391 TCAxGAA COVERED NOVEL CPE-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000317094.2 0 22.570728 KEEP 0 0 0 75 2560 CC 1 1 0 + 13 60 483 0 0 30.914176 306 60 10873 482 ENST00000402744.4 0.040752 1 TLL1 7092 __UNKNOWN__ __UNKNOWN__ 4 167020644 167020644 __UNKNOWN__ Missense_Mutation SNP A A G rs2291822 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:167020644A>G ENST00000061240.2 + 20 3519 c.2872A>G c.(2872-2874)Aca>Gca p.T958A TLL1_ENST00000507499.1_Missense_Mutation_p.T981A NM_012464.4 NP_036596.3 O43897 TLL1_HUMAN tolloid-like 1 958 CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}. NA T -> A (in dbSNP:rs2291822). cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501) extracellular region (GO:0005576) calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270) NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) TCTTGATTCAACAGCTGTGGG 0.443 NA A||| 825 0.164736 0.1906 0.0591 5008 , , NA 16568 0.4325 NA 0.0368 False NA ,,, NA NA NA 2504 0.0603 NA NA NA NA 0 A ALA/THR 814,3592 324.2+/-298.5 77,660,1466 194 198 197 2872 -3 0 4 dbSNP_100 197 386,8214 124.1+/-182.9 7,372,3921 yes missense TLL1 NM_012464.4 58 84,1032,5387 GG,GA,AA 4.4884,18.4748,9.2265 benign 958/1014 167020644 1200,11806 2203 4300 6503 SO:0001583 missense AF282732 CCDS3811.1, CCDS56342.1 4q32-q33 2008-07-29 ENSG00000038295 ENSG00000038295 7092 11843 protein-coding gene gene with protein product 606742 NA 10516436 Standard NM_012464 NA Approved uc003irh.2 O43897 OTTHUMG00000161112 ENST00000061240.2:c.2872A>G chr4.hg19:g.167020644A>G ENSP00000061240:p.Thr958Ala NA B2RMU2|Q96AN3|Q9NQS4 hg19 CCDS3811.1 0.02 13.962315 TCAxCAG COVERED 382 0.1749084249084249 81 0.16463414634146342 21 0.058011049723756904 252 0.4405594405594406 28 0.036939313984168866 A 6.327 0.428508 0.11987 0.184748 0.044884 ENSG00000038295 ENST00000061240;ENST00000507499 T;T 0.17370 2.28;2.28 5.67 -2.99 0.05497 CUB (5); 0.410761 0.25954 U 0.027232 T 0.00012 0.0000 L 0.45051 1.395 0.58432 P 5.000000000032756E-6 B;B 0.02656 0.0;0.0 B;B 0.09377 0.004;0.001 T 0.48647 -0.9017 9 0.25751 T 0.34 . 7.0156 0.24887 0.4941:0.0:0.3937:0.1123 rs2291822;rs17690401;rs2291822 981;958 E9PD25;O43897 .;TLL1_HUMAN A 958;981 ENSP00000061240:T958A;ENSP00000426082:T981A ENSP00000061240:T958A T + 1 0 TLL1 167240094 0.420000 0.25457 0.001000 0.08648 0.000000 0.00434 1.304000 0.33482 -0.370000 0.08016 -0.912000 0.02778 ACA NOVEL TLL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000363821.1 2 11.434713 KEEP 0 0 0 38 1201 AA 1 1 0 + 15 60 543 0 0 35.38277 300 60 10820 412 ENST00000061240.2 0.047619 1 TLL1 7092 __UNKNOWN__ __UNKNOWN__ 4 167023255 167023255 __UNKNOWN__ 3'UTR SNP A A G rs1353681 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:167023255A>G ENST00000061240.2 + 0 4916 NM_012464.4 NP_036596.3 O43897 TLL1_HUMAN tolloid-like 1 NA NA cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501) extracellular region (GO:0005576) calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270) NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) AGAGTATATCATTGCAAGGGC 0.408 NA A||| 1001 0.19988 0.1952 0.1816 5008 , , NA 16873 0.4315 NA 0.1014 False NA ,,, NA NA NA 2504 0.0818 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF282732 CCDS3811.1, CCDS56342.1 4q32-q33 2008-07-29 ENSG00000038295 ENSG00000038295 7092 11843 protein-coding gene gene with protein product 606742 NA 10516436 Standard NM_012464 NA Approved uc003irh.2 O43897 OTTHUMG00000161112 ENST00000061240.2:c.*1227A>G chr4.hg19:g.167023255A>G NA B2RMU2|Q96AN3|Q9NQS4 hg19 CCDS3811.1 0.02 6.375734 ATCxTTG COVERED NOVEL TLL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000363821.1 2 5.115462 KEEP 0 0 0 17 530 AA 0.999366 0.999366 0 + 10 60 352 0 0 23.184244 171 60 6325 222 ENST00000061240.2 0.055249 1 TLL1 7092 __UNKNOWN__ __UNKNOWN__ 4 167023504 167023504 __UNKNOWN__ 3'UTR SNP T T G rs1909084 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:167023504T>G ENST00000061240.2 + 0 5165 NM_012464.4 NP_036596.3 O43897 TLL1_HUMAN tolloid-like 1 NA NA cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501) extracellular region (GO:0005576) calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270) NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) ATGTGTGTTTTTAAAATTAAT 0.313 NA T||| 786 0.156949 0.1596 0.0591 5008 , , NA 18946 0.4306 NA 0.0348 False NA ,,, NA NA NA 2504 0.0665 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF282732 CCDS3811.1, CCDS56342.1 4q32-q33 2008-07-29 ENSG00000038295 ENSG00000038295 7092 11843 protein-coding gene gene with protein product 606742 NA 10516436 Standard NM_012464 NA Approved uc003irh.2 O43897 OTTHUMG00000161112 ENST00000061240.2:c.*1476T>G chr4.hg19:g.167023504T>G NA B2RMU2|Q96AN3|Q9NQS4 hg19 CCDS3811.1 0.02 11.709755 TTTxTAA COVERED NOVEL TLL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000363821.1 2 6.018929 KEEP 0 0 0 20 659 TT 0.999869 0.999869 0 + 9 60 350 0 0 22.404914 245 60 8948 326 ENST00000061240.2 0.035433 1 TLL1 7092 __UNKNOWN__ __UNKNOWN__ 4 167024550 167024550 __UNKNOWN__ 3'UTR SNP A A G rs57253426 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:167024550A>G ENST00000061240.2 + 0 6211 NM_012464.4 NP_036596.3 O43897 TLL1_HUMAN tolloid-like 1 NA NA cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501) extracellular region (GO:0005576) calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270) NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) TGGAGTTAGTATGAGCCTTTT 0.269 NA A||| 585 0.116813 0.0832 0.1527 5008 , , NA 15528 0.2629 NA 0.0755 False NA ,,, NA NA NA 2504 0.0286 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF282732 CCDS3811.1, CCDS56342.1 4q32-q33 2008-07-29 ENSG00000038295 ENSG00000038295 7092 11843 protein-coding gene gene with protein product 606742 NA 10516436 Standard NM_012464 NA Approved uc003irh.2 O43897 OTTHUMG00000161112 ENST00000061240.2:c.*2522A>G chr4.hg19:g.167024550A>G NA B2RMU2|Q96AN3|Q9NQS4 hg19 CCDS3811.1 0.02 6.531488 AGTxTGA COVERED NOVEL TLL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000363821.1 0 9.326808 KEEP 0 0 0 31 961 AA 0.999997 0.999997 0 + 7 60 264 0 0 16.79146 179 60 6482 271 ENST00000061240.2 0.037634 1 DDX60 55601 __UNKNOWN__ __UNKNOWN__ 4 169138291 169138291 __UNKNOWN__ Intron SNP T T C rs17611096 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:169138291T>C ENST00000393743.3 - 38 5331 NM_017631.5 NP_060101.3 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 NA NA defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615) cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111) ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727) breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4) 63 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) GATGATGAAATTATGTTAGCA 0.294 NA T||| 570 0.113818 0.0197 0.1138 5008 , , NA 18022 0.123 NA 0.174 False NA ,,, NA NA NA 2504 0.1697 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK001649 CCDS34097.1 4q32.3 2010-02-17 ENSG00000137628 ENSG00000137628 55601 25942 protein-coding gene gene with protein product 613974 NA 12477932 Standard NM_017631 NM_017631 NA Approved FLJ20035 uc003irp.3 Q8IY21 OTTHUMG00000161350 ENST00000393743.3:c.5040-108A>G chr4.hg19:g.169138291T>C NA Q6PK35|Q9NVE3 hg19 CCDS34097.1 0.02 2.091186 AAAxTAT COVERED NOVEL DDX60-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000364622.1 0 2.70858 KEEP 0 0 0 9 299 TT 0.99254 0.988259 0 - 5 60 190 0 0 13.629603 63 60 2277 90 ENST00000393743.3 0.073529 0.995687 DDX60L 91351 __UNKNOWN__ __UNKNOWN__ 4 169311333 169311333 __UNKNOWN__ Intron SNP T T C rs1994530 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:169311333T>C ENST00000511577.1 - 29 4163 DDX60L_ENST00000505890.1_3'UTR|DDX60L_ENST00000260184.7_Intron Q5H9U9 DDX6L_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like NA NA ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.175) TCCACTCTCATTGTGGTCCAT 0.343 NA T||| 600 0.119808 0.0068 0.1225 5008 , , NA 19697 0.1498 NA 0.1889 False NA ,,, NA NA NA 2504 0.1687 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK092461 CCDS47161.1 4q32.3 2008-01-08 ENSG00000181381 91351 26429 protein-coding gene gene with protein product NA Standard NM_001012967 XM_005263341 NA Approved FLJ31033 uc003irq.4 Q5H9U9 ENST00000511577.1:c.3915+1357A>G chr4.hg19:g.169311333T>C NA Q96ND6 hg19 0.02 4.81868 TCAxTGT COVERED NOVEL DDX60L-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000364839.1 1 6.054517 KEEP 0 1 37 33 1053 TT 0.999998 0.99999 0 - 5 60 192 0 0 12.774828 104 60 3822 191 ENST00000511577.1 0.045872 0.999992 PALLD 23022 __UNKNOWN__ __UNKNOWN__ 4 169519827 169519827 __UNKNOWN__ Intron SNP G G A rs144330279 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:169519827G>A ENST00000505667.1 + 3 1081 PALLD_ENST00000261509.6_Intron|PALLD_ENST00000335742.7_Intron|PALLD_ENST00000333488.4_Intron Q8WX93 PALLD_HUMAN palladin, cytoskeletal associated protein NA NA cytoskeleton organization (GO:0007010) actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634) muscle alpha-actinin binding (GO:0051371) breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4) 48 Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144) GBM - Glioblastoma multiforme(119;0.204) GTCATCTGCTGTAACTCTCTA 0.423 NA Pancreatic Cancer, Familial Clustering of G||| 131 0.0261581 0.0 0.0 5008 , , NA 18201 0.0288 NA 0.001 False NA ,,, NA NA NA 2504 0.1033 NA NA NA Esophageal Squamous(109;1482 1532 18347 40239 51172) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1 AB023209 CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1 4q32.3 2013-01-11 ENSG00000129116 ENSG00000129116 23022 Immunoglobulin superfamily / I-set domain containing 17068 protein-coding gene gene with protein product 608092 NA 10231032, 10931874 Standard NM_016081 NM_001166108 NA Approved KIAA0992, SIH002, CGI-151 uc011cjx.2 Q8WX93 OTTHUMG00000161097 ENST00000505667.1:c.909-69514G>A chr4.hg19:g.169519827G>A NA B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9 hg19 CCDS54818.1 0.02 4.589322 GCTxTAA COVERED NOVEL PALLD-002 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000363762.1 0 3.009814 KEEP 0 0 0 10 354 GG 0.992708 0.992676 0 + 6 60 217 0 0 14.682794 95 60 3651 131 ENST00000505667.1 0.059406 0.999968 PALLD 23022 __UNKNOWN__ __UNKNOWN__ 4 169621823 169621823 __UNKNOWN__ Intron SNP A A G rs7341000 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:169621823A>G ENST00000505667.1 + 9 1674 PALLD_ENST00000512127.1_Intron|PALLD_ENST00000261509.6_Intron|PALLD_ENST00000335742.7_Intron|PALLD_ENST00000333488.4_3'UTR Q8WX93 PALLD_HUMAN palladin, cytoskeletal associated protein NA NA cytoskeleton organization (GO:0007010) actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634) muscle alpha-actinin binding (GO:0051371) breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4) 48 Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144) GBM - Glioblastoma multiforme(119;0.204) ctcagaggttatatttcagcg 0.398 NA Pancreatic Cancer, Familial Clustering of A||| 64 0.0127796 0.028 0.0 5008 , , NA 16708 0.0258 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA Esophageal Squamous(109;1482 1532 18347 40239 51172) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1 AB023209 CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1 4q32.3 2013-01-11 ENSG00000129116 ENSG00000129116 23022 Immunoglobulin superfamily / I-set domain containing 17068 protein-coding gene gene with protein product 608092 NA 10231032, 10931874 Standard NM_016081 NM_001166108 NA Approved KIAA0992, SIH002, CGI-151 uc011cjx.2 Q8WX93 OTTHUMG00000161097 ENST00000505667.1:c.1502-8356A>G chr4.hg19:g.169621823A>G NA B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9 hg19 CCDS54818.1 0.02 4.563063 GTTxTAT COVERED NOVEL PALLD-002 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000363762.1 2 5.71616 KEEP 0 0 0 19 584 AA 0.99986 0.999841 0 + 6 60 227 0 0 15.60267 98 60 3542 143 ENST00000505667.1 0.057692 0.999981 PALLD 23022 __UNKNOWN__ __UNKNOWN__ 4 169846127 169846127 __UNKNOWN__ Silent SNP C C T rs59633770 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:169846127C>T ENST00000505667.1 + 20 3429 c.3256C>T c.(3256-3258)Ctg>Ttg p.L1086L CBR4_ENST00000509108.1_Intron|PALLD_ENST00000512127.1_Silent_p.L687L|PALLD_ENST00000507735.1_Silent_p.L582L|PALLD_ENST00000261509.6_Silent_p.L1069L|PALLD_ENST00000335742.7_Silent_p.L911L Q8WX93 PALLD_HUMAN palladin, cytoskeletal associated protein 1293 NA cytoskeleton organization (GO:0007010) actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634) muscle alpha-actinin binding (GO:0051371) breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4) 48 Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144) GBM - Glioblastoma multiforme(119;0.204) CTACATCTGCCTGCTCATTCA 0.458 NA Pancreatic Cancer, Familial Clustering of C||| 25 0.00499201 0.0 0.0014 5008 , , NA 18305 0.0228 NA 0.001 False NA ,,, NA NA NA 2504 0.0 NA NA NA Esophageal Squamous(109;1482 1532 18347 40239 51172) NA 0 C ,,, 0,4406 0,0,2203 112 113 112 3256,2059,1744,3205 5.7 1 4 dbSNP_129 112 3,8597 3.0+/-9.4 0,3,4297 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous PALLD NM_001166108.1,NM_001166109.1,NM_001166110.1,NM_016081.3 ,,, 0,3,6500 TT,TC,CC 0.0349,0.0,0.0231 ,,, 1086/1124,687/778,582/673,1069/1107 169846127 3,13003 2203 4300 6503 SO:0001819 synonymous_variant Familial Cancer Database incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1 AB023209 CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1 4q32.3 2013-01-11 ENSG00000129116 ENSG00000129116 23022 Immunoglobulin superfamily / I-set domain containing 17068 protein-coding gene gene with protein product 608092 NA 10231032, 10931874 Standard NM_016081 NM_001166108 NA Approved KIAA0992, SIH002, CGI-151 uc011cjx.2 Q8WX93 OTTHUMG00000161097 ENST00000505667.1:c.3256C>T chr4.hg19:g.169846127C>T NA B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9 hg19 CCDS54818.1 0.02 5.988025 TGCxTGC COVERED 13 0.005952380952380952 0 0.0 0 0.0 12 0.02097902097902098 1 0.0013192612137203166 C 6.617 0.482267 0.12581 0.0 3.49E-4 ENSG00000129116 ENST00000503290 . . . 5.69 5.69 0.88448 . . . . . T 0.63534 0.2519 . . . 0.80722 D 1 . . . . . . T 0.69587 -0.5105 4 . . . . 19.8275 0.96624 0.0:1.0:0.0:0.0 rs59633770 . . . L 122 . . P + 2 0 PALLD 170082702 1.000000 0.71417 1.000000 0.80357 0.724000 0.41520 4.893000 0.63199 2.684000 0.91462 0.650000 0.86243 CCT NOVEL PALLD-002 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000363762.1 0 17.156209 KEEP 0 0 0 57 2055 CC 1 1 0 + 8 60 277 0 0 17.797959 149 60 5517 268 ENST00000505667.1 0.050955 1 SH3RF1 57630 __UNKNOWN__ __UNKNOWN__ 4 170037572 170037572 __UNKNOWN__ Missense_Mutation SNP G G A rs3811813 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:170037572G>A ENST00000284637.9 - 10 2328 c.1987C>T c.(1987-1989)Cca>Tca p.P663S SH3RF1_ENST00000508685.1_5'UTR NM_020870.3 NP_065921.2 Q7Z6J0 SH3R1_HUMAN SH3 domain containing ring finger 1 663 NA P -> S (in dbSNP:rs3811813). negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|protein ubiquitination (GO:0016567)|regulation of JNK cascade (GO:0046328) cell projection (GO:0042995)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794) ligase activity (GO:0016874)|zinc ion binding (GO:0008270) NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 31 Prostate(90;0.00267)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0287) GAAGTCAGTGGAGCAGCTGCT 0.622 NA G||| 462 0.0922524 0.0083 0.062 5008 , , NA 19880 0.0813 NA 0.1362 False NA ,,, NA NA NA 2504 0.1933 NA NA NA NA 0 G SER/PRO 166,4240 109.1+/-147.4 3,160,2040 61 52 55 1987 1.4 0 4 dbSNP_107 55 1098,7502 228.7+/-263.7 80,938,3282 yes missense SH3RF1 NM_020870.3 74 83,1098,5322 AA,AG,GG 12.7674,3.7676,9.7186 benign 663/889 170037572 1264,11742 2203 4300 6503 SO:0001583 missense BC033203 CCDS34099.1 4q32.3 2013-01-09 2006-02-13 2006-02-13 ENSG00000154447 ENSG00000154447 57630 RING-type (C3HC4) zinc fingers 17650 protein-coding gene gene with protein product plenty of SH3 domains SH3 multiple domains 2 SH3MD2 NA 9482736 Standard NM_020870 NM_020870 NA Approved POSH, RNF142, KIAA1494 uc003isa.1 Q7Z6J0 OTTHUMG00000161010 ENST00000284637.9:c.1987C>T chr4.hg19:g.170037572G>A ENSP00000284637:p.Pro663Ser NA Q05BT2|Q8IW46|Q9HAM2|Q9P234 hg19 CCDS34099.1 0.02 12.743878 GTGxAGC COVERED 177 0.08104395604395605 5 0.01016260162601626 28 0.07734806629834254 39 0.06818181818181818 105 0.13852242744063326 G 0.259 -1.000945 0.02128 0.037676 0.127674 ENSG00000154447 ENST00000284637 T 0.10960 2.82 5.24 1.38 0.22167 . 0.261100 0.27563 N 0.018810 T 0.00039 0.0001 N 0.00926 -1.1 0.53005 P 3.100000000000325E-5 B 0.02656 0.0 B 0.01281 0.0 T 0.43572 -0.9383 9 0.02654 T 1 -1.1484 5.8399 0.18627 0.7065:0.1407:0.1528:0.0 rs3811813;rs60713833;rs3811813 663 Q7Z6J0 SH3R1_HUMAN S 663 ENSP00000284637:P663S ENSP00000284637:P663S P - 1 0 SH3RF1 170274147 1.000000 0.71417 0.000000 0.03702 0.001000 0.01503 3.648000 0.54410 0.009000 0.14813 -0.378000 0.06908 CCA NOVEL SH3RF1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000363382.3 0 15.083239 KEEP 0 1 31 61 2145 GG 1 1 0 - 16 60 579 0 0 37.784472 312 60 11455 463 ENST00000284637.9 0.04878 1 MFAP3L 9848 __UNKNOWN__ __UNKNOWN__ 4 170912278 170912278 __UNKNOWN__ 3'UTR SNP G G A rs7661337 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:170912278G>A ENST00000361618.3 - 0 1788 MFAP3L_ENST00000393704.3_3'UTR|RP11-6E9.4_ENST00000508955.1_RNA NM_021647.6 NP_067679.6 O75121 MFA3L_HUMAN microfibrillar-associated protein 3-like NA NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17) GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116) ATCAGCCTCTGAAACTCATTA 0.458 NA .||| 2030 0.405351 0.7723 0.2133 5008 , , NA 19602 0.248 NA 0.2445 False NA ,,, NA NA NA 2504 0.3732 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB014526 CCDS34103.1, CCDS43281.1 4q33 2014-08-12 ENSG00000198948 ENSG00000198948 9848 Immunoglobulin superfamily / I-set domain containing 29083 protein-coding gene gene with protein product NA 9734811 Standard NM_021647 XM_005263366 NA Approved KIAA0626, NYD-sp9 uc003isp.4 O75121 OTTHUMG00000160942 ENST00000361618.3:c.*251C>T chr4.hg19:g.170912278G>A NA A8K1X6|D3DP35|Q4W5N7|Q4W5N9|Q6TNA8|Q9BVE1|Q9BXK0 hg19 CCDS34103.1 0.02 8.262992 TCTxAAA COVERED NOVEL MFAP3L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000363043.2 2 9.631763 KEEP 0 0 0 32 1161 GG 0.999997 0.999997 0 - 8 60 288 0 0 17.966252 196 60 7435 291 ENST00000361618.3 0.039216 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 174537221 174537221 __UNKNOWN__ IGR SNP T T C rs11726970 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:174537221T>C NA NA RP11-475B2.1 (21514 upstream) : RP11-161D15.2 (280323 downstream) NA NA NA CTCTTCTCATTCAGAGGTGTA 0.428 NA C||| 1264 0.252396 0.1074 0.2637 5008 , , NA 20489 0.3244 NA 0.2714 False NA ,,, NA NA NA 2504 0.3466 NA NA NA NA 0 C 564,3842 50,464,1689 127 117 121 0.5 0.6 4 dbSNP_120 121 2447,6153 375,1697,2228 no intergenic 425,2161,3917 CC,CT,TT 28.4535,12.8007,23.1509 174537221 3011,9995 2203 4300 6503 SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.174537221T>C NA hg19 0.02 15.214869 CATxCAG COVERED NOVEL 0 3 12.03668 KEEP 1 0 0 40 1284 TT 1 1 0 18 60 654 0 0 42.14584 381 60 13773 504 0.045113 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 174537356 174537356 __UNKNOWN__ IGR SNP T T A rs34402795 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:174537356T>A NA NA RP11-475B2.1 (21649 upstream) : RP11-161D15.2 (280188 downstream) NA NA NA TCAAATTTGTTGAGTAGCTGG 0.433 NA A||| 1528 0.305112 0.3003 0.2723 5008 , , NA 20246 0.3244 NA 0.2744 False NA ,,, NA NA NA 2504 0.3466 NA NA NA NA 0 A 1311,3093 210,891,1101 187 199 194 0.5 0.6 4 dbSNP_126 194 2479,6119 382,1715,2202 no intergenic 592,2606,3303 AA,AT,TT 28.8323,29.7684,29.1494 174537356 3790,9212 2202 4299 6501 SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.174537356T>A NA hg19 0.02 23.021904 TGTxGAG COVERED NOVEL 0 4 8.42363 KEEP 0 0 0 28 844 TT 0.999997 0.999997 0 32 60 1181 0 0 81.515489 476 60 17115 621 0.062992 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 174537471 174537471 __UNKNOWN__ IGR SNP G G A rs13103221 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:174537471G>A NA NA RP11-475B2.1 (21764 upstream) : RP11-161D15.2 (280073 downstream) NA NA NA AATTTGCATAGTCCTCAAGAA 0.388 NA A||| 1264 0.252396 0.1074 0.2637 5008 , , NA 21557 0.3244 NA 0.2714 False NA ,,, NA NA NA 2504 0.3466 NA NA NA NA 0 A 566,3840 50,466,1687 191 198 196 -0.9 0 4 dbSNP_121 196 2454,6146 377,1700,2223 no intergenic 427,2166,3910 AA,AG,GG 28.5349,12.8461,23.2201 174537471 3020,9986 2203 4300 6503 SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.174537471G>A NA hg19 0.02 17.988237 ATAxTCC COVERED NOVEL 0 1 9.461997 KEEP 0 1 33 43 1515 GG 1 1 0 20 60 745 0 0 49.327123 391 70 14681 525 0.048662 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 174537658 174537658 __UNKNOWN__ IGR SNP C C T rs62342044 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:174537658C>T NA NA RP11-475B2.1 (21951 upstream) : RP11-161D15.2 (279886 downstream) NA NA NA CCTTTTCTTTCGAGGAGGCTG 0.408 NA c||| 375 0.0748802 0.0023 0.072 5008 , , NA 19386 0.1121 NA 0.0646 False NA ,,, NA NA NA 2504 0.1472 NA NA NA NA 0 T 70,4332 1,68,2132 91 99 97 -0.9 0.1 4 dbSNP_129 97 652,7948 30,592,3678 no intergenic 31,660,5810 TT,TC,CC 7.5814,1.5902,5.553 174537658 722,12280 2201 4300 6501 SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.174537658C>T NA hg19 0.02 13.083522 TTTxGAG COVERED NOVEL 0 1 10.468481 KEEP 0 1 32 46 1571 CC 1 1 0 9 60 336 0 0 20.181936 304 60 10700 454 0.028754 1 CEP44 80817 __UNKNOWN__ __UNKNOWN__ 4 175225452 175225452 __UNKNOWN__ Missense_Mutation SNP G G A rs4695918 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:175225452G>A ENST00000503780.1 + 6 853 c.439G>A c.(439-441)Ggc>Agc p.G147S CEP44_ENST00000426172.1_Missense_Mutation_p.G147S|CEP44_ENST00000457424.2_Missense_Mutation_p.G147S|CEP44_ENST00000296519.4_Missense_Mutation_p.G147S NM_001040157.2 NP_001035247.1 Q9C0F1 CEP44_HUMAN centrosomal protein 44kDa 147 NA G -> S (in dbSNP:rs4695918). {ECO:0000269|PubMed:11214970, ECO:0000269|PubMed:14702039}. centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|spindle pole (GO:0000922) endometrium(2)|large_intestine(4)|lung(5)|stomach(1) 12 ACCTCCTTTGGGCAATGAGAA 0.358 NA A||| 2205 0.440296 0.5809 0.3184 5008 , , NA 14793 0.1597 NA 0.5477 False NA ,,, NA NA NA 2504 0.5153 NA NA NA NA 0 A SER/GLY,SER/GLY 2511,1895 544.9+/-376.7 710,1091,402 70 74 73 439,439 0.7 0 4 dbSNP_111 73 4647,3953 549.9+/-385.6 1245,2157,898 yes missense,missense CEP44 NM_001040157.2,NM_001145314.1 56,56 1955,3248,1300 AA,AG,GG 45.9651,43.0095,44.9639 benign,benign 147/391,147/400 175225452 7158,5848 2203 4300 6503 SO:0001583 missense AB051499 CCDS34106.1, CCDS47163.1 4q34 2014-02-20 2011-05-06 2011-05-06 ENSG00000164118 ENSG00000164118 80817 29356 protein-coding gene gene with protein product KIAA1712 KIAA1712 NA 21399614 Standard NM_030633 NM_001040157 NA Approved uc010iro.2 Q9C0F1 OTTHUMG00000160752 ENST00000503780.1:c.439G>A chr4.hg19:g.175225452G>A ENSP00000423153:p.Gly147Ser NA A8K8W9|A8MW11|B3KT53|D3DP42|Q8IXZ4 hg19 CCDS34106.1 0.02 13.518885 TTGxGCA COVERED 906 0.41483516483516486 272 0.5528455284552846 129 0.356353591160221 91 0.1590909090909091 414 0.5461741424802111 A 0.007 -1.935401 0.00484 0.569905 0.540349 ENSG00000164118 ENST00000503780;ENST00000457424;ENST00000515299;ENST00000426172;ENST00000296519 T;T;T;T;T 0.39997 1.08;1.05;1.07;1.05;1.08 5.01 0.671 0.17929 . 0.724351 0.13541 N 0.380212 T 0.00012 0.0000 N 0.02011 -0.69 0.80722 P 0.0 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.46830 -0.9163 9 0.02654 T 1 . 8.8488 0.35188 0.7002:0.0:0.2998:0.0 rs4695918;rs60445014;rs4695918 147;147 Q9C0F1-2;Q9C0F1 .;CEP44_HUMAN S 147 ENSP00000423153:G147S;ENSP00000389427:G147S;ENSP00000421128:G147S;ENSP00000408221:G147S;ENSP00000296519:G147S ENSP00000296519:G147S G + 1 0 CEP44 175462027 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -0.070000 0.11523 -0.181000 0.10619 -1.390000 0.01156 GGC NOVEL CEP44-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000362109.2 4 9.836695 KEEP 0 3 92 65 2331 GG 1 1 0 + 13 60 486 0 0 30.817792 329 60 12193 542 ENST00000503780.1 0.038012 1 GLRA3 8001 __UNKNOWN__ __UNKNOWN__ 4 175598280 175598280 __UNKNOWN__ Silent SNP A A G rs12648678 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:175598280A>G ENST00000274093.3 - 7 1378 c.876T>C c.(874-876)acT>acC p.T292T GLRA3_ENST00000340217.5_Silent_p.T292T NM_006529.2 NP_006520.2 O75311 GLRA3_HUMAN glycine receptor, alpha 3 292 NA ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085) cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211) extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824) p.T292T(1) endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 35 Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107) all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421) Glycine(DB00145)|Ivermectin(DB00602)|Lindane(DB00431) TCGTTAGCACAGTGGTTATCC 0.458 NA A||| 1084 0.216454 0.1589 0.2305 5008 , , NA 17324 0.3651 NA 0.1769 False NA ,,, NA NA NA 2504 0.1718 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) A , 723,3683 297.3+/-284.7 60,603,1540 113 91 98 876,876 -8.1 0.9 4 dbSNP_120 98 1487,7113 282.8+/-295.8 117,1253,2930 no coding-synonymous,coding-synonymous GLRA3 NM_001042543.1,NM_006529.2 , 177,1856,4470 GG,GA,AA 17.2907,16.4094,16.9922 , 292/450,292/465 175598280 2210,10796 2203 4300 6503 SO:0001819 synonymous_variant AF017724 CCDS3822.1, CCDS43283.1 4q34.1 2012-02-07 ENSG00000145451 ENSG00000145451 8001 Ligand-gated ion channels / Glycine receptors 4328 protein-coding gene gene with protein product 600421 NA 9677400 Standard NM_001042543 NA Approved uc003ity.1 O75311 OTTHUMG00000149816 ENST00000274093.3:c.876T>C chr4.hg19:g.175598280A>G NA D3DP44|O75816|Q5D0E3 hg19 CCDS3822.1 0.02 6.152894 CACxGTG COVERED NOVEL GLRA3-001 KNOWN basic|appris_candidate_longest|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000313427.1 0 6.317057 KEEP 0 0 0 21 628 AA 0.999869 0.999869 0 - 6 60 213 0 0 13.040841 155 60 5850 225 ENST00000274093.3 0.037267 1 RP11-389E17.1 0 __UNKNOWN__ __UNKNOWN__ 4 178911822 178911822 __UNKNOWN__ 3'UTR SNP T T C rs17065494 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:178911822T>C ENST00000507870.1 + 0 952 NA NA lung(8)|prostate(1) 9 TCCCAAGAAATGTTTTAATTT 0.383 NA T||| 629 0.125599 0.1664 0.0865 5008 , , NA 19869 0.2024 NA 0.0537 False NA ,,, NA NA NA 2504 0.093 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant NA NA NA NA ENST00000507870.1:c.*160T>C chr4.hg19:g.178911822T>C NA hg19 0.02 16.203365 AAAxGTT COVERED NOVEL RP11-389E17.1-001 PUTATIVE basic|appris_principal|exp_conf protein_coding NA protein_coding OTTHUMT00000361922.1 2 11.728077 KEEP 0 0 0 39 1218 TT 1 1 0 + 15 60 505 0 0 29.242776 430 60 15790 542 ENST00000507870.1 0.033708 1 TENM3 55714 __UNKNOWN__ __UNKNOWN__ 4 183601847 183601847 __UNKNOWN__ Silent SNP T T C rs2871328 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:183601847T>C ENST00000511685.1 + 10 1914 c.1791T>C c.(1789-1791)tcT>tcC p.S597S TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Silent_p.S597S Q9P273 TEN3_HUMAN teneurin transmembrane protein 3 597 EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}. NA camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165) cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020) protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803) NA TCATGGGCTCTTGTGCTTGCA 0.463 NA T||| 2605 0.520168 0.416 0.5663 5008 , , NA 17400 0.7837 NA 0.3479 False NA ,,, NA NA NA 2504 0.5337 NA NA NA NA 0 T 1585,2199 344,897,651 89 91 90 1791 0.1 1 4 dbSNP_101 90 2911,5299 516,1879,1710 no coding-synonymous ODZ3 NM_001080477.1 860,2776,2361 CC,CT,TT 35.4568,41.8869,37.4854 597/2700 183601847 4496,7498 1892 4105 5997 SO:0001819 synonymous_variant AF195420 CCDS47165.1 4q35 2012-10-02 2012-10-02 2012-10-02 ENSG00000218336 ENSG00000218336 55714 29944 protein-coding gene gene with protein product 610083 odz, odd Oz/ten-m homolog 3 (Drosophila) ODZ3 NA 10331952, 10625539 Standard NM_001080477 NA Approved Ten-M3, KIAA1455 uc003ivd.1 Q9P273 OTTHUMG00000160682 ENST00000511685.1:c.1791T>C chr4.hg19:g.183601847T>C NA Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2 hg19 CCDS47165.1 0.02 11.581682 CTCxTGT COVERED NOVEL TENM3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000361734.1 2 9.767548 KEEP 0 1 39 46 1530 TT 1 1 0 + 13 60 491 0 0 32.465459 267 60 9888 430 ENST00000511685.1 0.046429 1 DCTD 1635 __UNKNOWN__ __UNKNOWN__ 4 183812143 183812143 __UNKNOWN__ 3'UTR SNP C C T rs3811810 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:183812143C>T ENST00000438320.2 - 0 1236 DCTD_ENST00000357067.3_3'UTR NM_001921.2 NP_001912.2 P32321 DCTD_HUMAN dCMP deaminase NA NA nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) dCMP deaminase activity (GO:0004132)|zinc ion binding (GO:0008270) endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|urinary_tract(1) 18 all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00666)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.202) all cancers(43;1.65e-24)|Epithelial(43;3.44e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.39e-10)|Colorectal(24;4.69e-07)|COAD - Colon adenocarcinoma(29;7.07e-05)|STAD - Stomach adenocarcinoma(60;0.000118)|GBM - Glioblastoma multiforme(59;0.000472)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.0419) Cytarabine(DB00987) TGTGTCTGCTCGTCCCCATTA 0.458 NA C||| 143 0.0285543 0.0 0.0 5008 , , NA 9729 0.0665 NA 0.0 False NA ,,, NA NA NA 2504 0.0777 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L12136 CCDS3831.1, CCDS34108.1 4q35.1 2008-08-01 ENSG00000129187 ENSG00000129187 1635 3.5.4.12 2710 protein-coding gene gene with protein product 607638 NA Standard XM_005262778 NA Approved uc003ivg.3 P32321 OTTHUMG00000160685 ENST00000438320.2:c.*409G>A chr4.hg19:g.183812143C>T NA B2R836|D3DP49|D3DP50|Q5M7Z8|Q9BVD8 hg19 CCDS3831.1 0.02 6.154652 GCTxGTC COVERED NOVEL DCTD-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000361743.2 2 9.630093 KEEP 0 0 0 32 1055 CC 0.999997 0.999997 0 - 7 60 258 0 0 16.048967 188 60 6444 263 ENST00000438320.2 0.035897 1 DCTD 1635 __UNKNOWN__ __UNKNOWN__ 4 183812351 183812351 __UNKNOWN__ 3'UTR SNP C C T rs9542 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:183812351C>T ENST00000438320.2 - 0 1028 DCTD_ENST00000357067.3_3'UTR NM_001921.2 NP_001912.2 P32321 DCTD_HUMAN dCMP deaminase NA NA nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) dCMP deaminase activity (GO:0004132)|zinc ion binding (GO:0008270) endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|urinary_tract(1) 18 all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00666)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.202) all cancers(43;1.65e-24)|Epithelial(43;3.44e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.39e-10)|Colorectal(24;4.69e-07)|COAD - Colon adenocarcinoma(29;7.07e-05)|STAD - Stomach adenocarcinoma(60;0.000118)|GBM - Glioblastoma multiforme(59;0.000472)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.0419) Cytarabine(DB00987) CTATTTTAAACCCTAAAGCAA 0.473 NA C||| 2247 0.448682 0.149 0.5605 5008 , , NA 19514 0.6062 NA 0.5855 False NA ,,, NA NA NA 2504 0.4714 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L12136 CCDS3831.1, CCDS34108.1 4q35.1 2008-08-01 ENSG00000129187 ENSG00000129187 1635 3.5.4.12 2710 protein-coding gene gene with protein product 607638 NA Standard XM_005262778 NA Approved uc003ivg.3 P32321 OTTHUMG00000160685 ENST00000438320.2:c.*201G>A chr4.hg19:g.183812351C>T NA B2R836|D3DP49|D3DP50|Q5M7Z8|Q9BVD8 hg19 CCDS3831.1 0.02 8.674575 AAAxCCT COVERED NOVEL DCTD-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000361743.2 0 5.116822 KEEP 0 0 0 17 611 CC 0.999366 0.999366 0 - 8 60 298 0 0 18.81278 205 60 7436 263 ENST00000438320.2 0.037559 1 WWC2 80014 __UNKNOWN__ __UNKNOWN__ 4 184190535 184190535 __UNKNOWN__ Intron SNP G G A rs6858486 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:184190535G>A ENST00000506225.1 + 2 276 WWC2_ENST00000448232.2_Intron|WWC2_ENST00000378925.3_Intron|WWC2_ENST00000504005.1_Intron|WWC2_ENST00000403733.3_Intron|WWC2_ENST00000513834.1_Intron Q6AWC2 WWC2_HUMAN WW and C2 domain containing 2 NA NA negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122) cytosol (GO:0005829) kinase binding (GO:0019900)|protein complex scaffold (GO:0032947) NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3) 32 all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202) all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242) GTGATTTTCTGTAAAAGTTGC 0.358 NA A||| 3241 0.647165 0.5877 0.696 5008 , , NA 20033 0.5446 NA 0.7276 False NA ,,, NA NA NA 2504 0.7157 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC017957 CCDS34109.2 4q35.1 2010-08-05 2006-11-09 ENSG00000151718 ENSG00000151718 80014 WW, C2 and coiled-coil domain containing 24148 protein-coding gene gene with protein product WW, C2 and coiled-coil domain containing 2 NA 12477932 Standard NM_024949 NM_024949 NA Approved BOMB, FLJ22029 uc010irx.3 Q6AWC2 OTTHUMG00000150685 ENST00000506225.1:c.276+219G>A chr4.hg19:g.184190535G>A NA Q32Q84|Q69YQ1|Q6AWB8|Q6ZSY9|Q6ZU09|Q7Z620|Q8TEB8|Q9H6P0 hg19 0.02 13.606566 TCTxTAA COVERED NOVEL WWC2-009 PUTATIVE basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000361759.1 1 12.641632 KEEP 0 0 0 42 1517 GG 1 1 0 + 16 60 595 0 0 39.779769 294 60 11255 401 ENST00000506225.1 0.051613 1 WWC2 80014 __UNKNOWN__ __UNKNOWN__ 4 184203886 184203886 __UNKNOWN__ Missense_Mutation SNP G G C rs3814422 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:184203886G>C ENST00000403733.3 + 18 2909 c.2710G>C c.(2710-2712)Gat>Cat p.D904H WWC2_ENST00000508747.1_Missense_Mutation_p.D32H|WWC2_ENST00000448232.2_Missense_Mutation_p.D928H|WWC2_ENST00000504005.1_Missense_Mutation_p.D586H|WWC2_ENST00000513834.1_Missense_Mutation_p.D855H NM_024949.5 NP_079225.5 Q6AWC2 WWC2_HUMAN WW and C2 domain containing 2 904 NA D -> H (in dbSNP:rs3814422). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:17974005}. negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122) cytosol (GO:0005829) kinase binding (GO:0019900)|protein complex scaffold (GO:0032947) NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3) 32 all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202) all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242) AGAGGCCTCTGATGAAATTGT 0.428 NA G||| 1271 0.253794 0.1959 0.4063 5008 , , NA 21674 0.2391 NA 0.2634 False NA ,,, NA NA NA 2504 0.229 NA NA NA NA 0 G HIS/ASP 956,3442 106,744,1349 49 46 47 2710 2.6 0 4 dbSNP_107 47 2477,6121 377,1723,2199 yes missense WWC2 NM_024949.5 81 483,2467,3548 CC,CG,GG 28.809,21.7372,26.4158 probably-damaging 904/1193 184203886 3433,9563 2199 4299 6498 SO:0001583 missense BC017957 CCDS34109.2 4q35.1 2010-08-05 2006-11-09 ENSG00000151718 ENSG00000151718 80014 WW, C2 and coiled-coil domain containing 24148 protein-coding gene gene with protein product WW, C2 and coiled-coil domain containing 2 NA 12477932 Standard NM_024949 NM_024949 NA Approved BOMB, FLJ22029 uc010irx.3 Q6AWC2 OTTHUMG00000150685 ENST00000403733.3:c.2710G>C chr4.hg19:g.184203886G>C ENSP00000384222:p.Asp904His NA Q32Q84|Q69YQ1|Q6AWB8|Q6ZSY9|Q6ZU09|Q7Z620|Q8TEB8|Q9H6P0 hg19 CCDS34109.2 0.02 19.757271 TCTxATG COVERED 538 0.24633699633699635 96 0.1951219512195122 129 0.356353591160221 130 0.22727272727272727 183 0.24142480211081793 G 13.46 2.244444 0.39697 0.217372 0.28809 ENSG00000151718 ENST00000403733;ENST00000513834;ENST00000448232;ENST00000504005;ENST00000508747 T;T;T;T;T 0.26373 3.46;3.46;3.26;3.3;1.74 5.27 2.62 0.31277 . 0.627510 0.16122 N 0.228617 T 0.00012 0.0000 L 0.51422 1.61 0.80722 P 0.0 P;B;D;P 0.53151 0.773;0.429;0.958;0.915 P;B;P;P 0.51170 0.487;0.372;0.661;0.621 T 0.42207 -0.9465 9 0.46703 T 0.11 -2.9709 10.708 0.45966 0.2825:0.0:0.7175:0.0 rs3814422;rs17855701;rs52831700;rs3814422 928;904;32;855 Q6AWC2-6;Q6AWC2;Q6AWC2-7;Q6AWC2-4 .;WWC2_HUMAN;.;. H 904;855;928;586;32 ENSP00000384222:D904H;ENSP00000425054:D855H;ENSP00000398577:D928H;ENSP00000427569:D586H;ENSP00000420835:D32H ENSP00000384222:D904H D + 1 0 WWC2 184440880 0.002000 0.14202 0.000000 0.03702 0.697000 0.40408 0.703000 0.25646 0.105000 0.17753 -0.797000 0.03246 GAT NOVEL WWC2-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000319608.1 2 24.378149 KEEP 0 0 0 81 2811 GG 1 1 0 + 24 60 918 0 0 62.88703 413 60 15628 611 ENST00000403733.3 0.05492 1 RWDD4 201965 __UNKNOWN__ __UNKNOWN__ 4 184560912 184560912 __UNKNOWN__ 3'UTR SNP T T A rs28703245 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:184560912T>A ENST00000326397.5 - 0 2516 RWDD4_ENST00000327570.9_3'UTR NM_152682.2 NP_689895.2 Q6NW29 RWDD4_HUMAN RWD domain containing 4 NA NA large_intestine(2)|lung(4)|ovary(1)|prostate(1) 8 GATGAGGCTGTTCAAGTGTTT 0.318 NA T||| 317 0.0632987 0.031 0.0288 5008 , , NA 18542 0.1052 NA 0.0219 False NA ,,, NA NA NA 2504 0.1309 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC017472 CCDS34111.1 4q35.1 2012-12-07 2010-09-30 2010-09-30 ENSG00000182552 ENSG00000182552 201965 23750 protein-coding gene gene with protein product family with sequence similarity 28, member A, RWD domain containing 4A FAM28A, RWDD4A NA Standard NM_152682 NM_152682 NA Approved MGC10198 uc003ivt.1 Q6NW29 OTTHUMG00000160632 ENST00000326397.5:c.*1677A>T chr4.hg19:g.184560912T>A NA B2RDE9|B4DDP2|Q75LA9|Q8WVW2 hg19 CCDS34111.1 0.02 31.808864 CTGxTCA COVERED NOVEL RWDD4-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000361499.2 2 86.654896 KEEP 126 0 0 288 9187 TT 1 1 0 - 21 60 761 0 0 44.095111 767 60 27380 1405 ENST00000326397.5 0.02665 1 TRAPPC11 60684 __UNKNOWN__ __UNKNOWN__ 4 184600601 184600601 __UNKNOWN__ Silent SNP A A G rs4241779 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:184600601A>G ENST00000334690.6 + 9 1129 c.927A>G c.(925-927)gcA>gcG p.A309A TRAPPC11_ENST00000357207.4_Silent_p.A309A NM_021942.5 NP_068761.4 Q7Z392 TPC11_HUMAN trafficking protein particle complex 11 309 NA vesicle-mediated transport (GO:0016192) Golgi apparatus (GO:0005794) NA TTGGAAGTGCAGAGCTGTCTT 0.363 NA A||| 2432 0.485623 0.6467 0.5187 5008 , , NA 17886 0.5337 NA 0.3907 False NA ,,, NA NA NA 2504 0.2924 NA NA NA NA 0 A , 2748,1658 657.8+/-400.3 863,1022,318 99 101 101 927,927 -11.5 0 4 dbSNP_111 101 3705,4895 529.3+/-381.6 799,2107,1394 yes coding-synonymous,coding-synonymous C4orf41 NM_021942.4,NM_199053.1 , 1662,3129,1712 GG,GA,AA 43.0814,37.6305,49.6156 , 309/1134,309/1087 184600601 6453,6553 2203 4300 6503 SO:0001819 synonymous_variant CCDS34112.1, CCDS47166.1 4q35.1 2011-12-12 2011-12-12 2011-12-12 ENSG00000168538 ENSG00000168538 60684 Trafficking protein particle complex 25751 protein-coding gene gene with protein product gryzun homolog (Drosophila), foie gras homolog (zebrafish) 614138 chromosome 4 open reading frame 41 C4orf41 NA 19942856, 21525244 Standard NM_021942 NM_021942 NA Approved FLJ12716, gry, foigr uc003ivx.3 Q7Z392 OTTHUMG00000160673 ENST00000334690.6:c.927A>G chr4.hg19:g.184600601A>G NA A4QPB8|B2RCD6|Q5U5I7|Q6FI73|Q86T25|Q9H0L1|Q9H5K9|Q9H8Q1|Q9H9I7 hg19 CCDS34112.1 0.02 12.612234 TGCxGAG COVERED NOVEL TRAPPC11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000361654.2 4 18.051388 KEEP 0 0 0 60 1898 AA 1 1 0 + 14 60 500 0 0 31.701905 307 60 11565 455 ENST00000334690.6 0.043614 1 TRAPPC11 60684 __UNKNOWN__ __UNKNOWN__ 4 184607970 184607970 __UNKNOWN__ Intron SNP T T C rs9312316 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:184607970T>C ENST00000334690.6 + 18 2095 TRAPPC11_ENST00000357207.4_Intron|TRAPPC11_ENST00000512476.1_Intron NM_021942.5 NP_068761.4 Q7Z392 TPC11_HUMAN trafficking protein particle complex 11 NA NA vesicle-mediated transport (GO:0016192) Golgi apparatus (GO:0005794) NA CTAGATAAAATGAGCTTAGTG 0.348 NA C||| 2448 0.488818 0.6596 0.5187 5008 , , NA 20054 0.5337 NA 0.3897 False NA ,,, NA NA NA 2504 0.2924 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS34112.1, CCDS47166.1 4q35.1 2011-12-12 2011-12-12 2011-12-12 ENSG00000168538 ENSG00000168538 60684 Trafficking protein particle complex 25751 protein-coding gene gene with protein product gryzun homolog (Drosophila), foie gras homolog (zebrafish) 614138 chromosome 4 open reading frame 41 C4orf41 NA 19942856, 21525244 Standard NM_021942 NM_021942 NA Approved FLJ12716, gry, foigr uc003ivx.3 Q7Z392 OTTHUMG00000160673 ENST00000334690.6:c.1893+69T>C chr4.hg19:g.184607970T>C NA A4QPB8|B2RCD6|Q5U5I7|Q6FI73|Q86T25|Q9H0L1|Q9H5K9|Q9H8Q1|Q9H9I7 hg19 CCDS34112.1 0.02 7.150968 AAAxGAG COVERED NOVEL TRAPPC11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000361654.2 3 5.115451 KEEP 0 0 0 17 531 TT 0.999366 0.999366 0 + 11 60 328 0 0 19.793816 195 60 7156 225 ENST00000334690.6 0.053398 1 IRF2 3660 __UNKNOWN__ __UNKNOWN__ 4 185312027 185312027 __UNKNOWN__ Intron SNP C C T rs66641943 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:185312027C>T ENST00000393593.3 - 8 902 NM_002199.3 NP_002190.2 P14316 IRF2_HUMAN interferon regulatory factor 2 NA NA blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337) cytosol (GO:0005829)|nucleoplasm (GO:0005654) DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700) cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 22 all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592) all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419) CTTTGTAAAGCGAAACATTCT 0.507 NA T||| 1338 0.267173 0.053 0.3775 5008 , , NA 21032 0.3234 NA 0.2614 False NA ,,, NA NA NA 2504 0.4264 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS3835.1 4q34.1-q35.1 2008-07-29 ENSG00000168310 3660 6117 protein-coding gene gene with protein product 147576 NA 2475256 Standard NM_002199 NA Approved uc003iwf.4 P14316 ENST00000393593.3:c.695-124G>A chr4.hg19:g.185312027C>T NA D6RCK5|H0Y8S3|Q6IAS7|Q96B99 hg19 CCDS3835.1 0.02 4.49106 AAGxGAA COVERED NOVEL IRF2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000361393.1 0 8.726979 KEEP 0 0 0 29 955 CC 0.999997 0.999997 0 - 6 60 225 0 0 14.706939 129 60 4210 176 ENST00000393593.3 0.044444 1 KIAA1430 0 __UNKNOWN__ __UNKNOWN__ 4 186090818 186090818 __UNKNOWN__ Intron SNP T T C rs6839413 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:186090818T>C ENST00000458385.2 - 4 1440 KIAA1430_ENST00000514798.1_3'UTR NM_020827.1 NP_065878.1 Q9P2B7 K1430_HUMAN NA NA endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1) 11 all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243) all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165) TGTAAACAAATAAATGTCTTA 0.323 NA T||| 2302 0.459665 0.497 0.4467 5008 , , NA 19284 0.3988 NA 0.501 False NA ,,, NA NA NA 2504 0.4387 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000458385.2:c.1321-5485A>G chr4.hg19:g.186090818T>C NA B3KRP7|D3DP60|Q05CU1|Q4W5M4|Q8N6E7|Q9UF45 hg19 CCDS47168.1 0.02 6.750726 AAAxAAA COVERED NOVEL KIAA1430-001 NOVEL basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000360717.2 1 6.855241 KEEP 0 1 38 36 1104 TT 1 1 0 - 6 60 223 0 0 14.039498 155 60 5677 227 ENST00000458385.2 0.037267 1 KIAA1430 0 __UNKNOWN__ __UNKNOWN__ 4 186091487 186091487 __UNKNOWN__ Intron SNP G G A rs6820332 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:186091487G>A ENST00000458385.2 - 3 1440 KIAA1430_ENST00000296775.6_Missense_Mutation_p.S443L|KIAA1430_ENST00000514798.1_Missense_Mutation_p.S443L NM_020827.1 NP_065878.1 Q9P2B7 K1430_HUMAN NA NA endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1) 11 all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243) all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165) gtgacagagcgagatagtcta 0.423 NA g||| 2500 0.499201 0.6354 0.4625 5008 , , NA 19073 0.3998 NA 0.504 False NA ,,, NA NA NA 2504 0.4387 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000458385.2:c.1320+5452C>T chr4.hg19:g.186091487G>A NA B3KRP7|D3DP60|Q05CU1|Q4W5M4|Q8N6E7|Q9UF45 hg19 CCDS47168.1 0.02 -0.377226 AGCxAGA COVERED 1075 0.49221611721611724 299 0.6077235772357723 183 0.505524861878453 205 0.3583916083916084 388 0.5118733509234829 g 5.374 0.254247 0.10185 . . ENSG00000164323 ENST00000514798;ENST00000296775 T;T 0.38887 1.11;1.11 . . . . 0.508000 0.15626 N 0.252635 T 0.00012 0.0000 . . . 0.80722 P 0.0 P 0.47302 0.893 P 0.46510 0.519 T 0.46119 -0.9214 6 0.87932 D 0 . . . . rs6820332 443 Q9P2B7-2 . L 443 ENSP00000423312:S443L;ENSP00000296775:S443L ENSP00000296775:S443L S - 2 0 KIAA1430 186328481 0.075000 0.21258 0.008000 0.14137 0.008000 0.06430 0.226000 0.17776 0.377000 0.24735 0.378000 0.23410 TCG NOVEL KIAA1430-001 NOVEL basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000360717.2 8 14.381205 KEEP 0 1 32 59 2007 GG 1 0.909069 0 - 3 60 117 0 0 8.406748 40 60 1448 141 ENST00000458385.2 0.069767 0.909069 KIAA1430 0 __UNKNOWN__ __UNKNOWN__ 4 186097045 186097045 __UNKNOWN__ Silent SNP C C T rs6855305 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:186097045C>T ENST00000458385.2 - 3 1334 c.1215G>A c.(1213-1215)ccG>ccA p.P405P KIAA1430_ENST00000502992.1_5'UTR|KIAA1430_ENST00000296775.6_Silent_p.P405P|KIAA1430_ENST00000514798.1_Silent_p.P405P NM_020827.1 NP_065878.1 Q9P2B7 K1430_HUMAN 405 NA endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1) 11 all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243) all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165) TTTTGCTTCCCGGCTTTTCCG 0.448 NA T||| 2532 0.505591 0.6573 0.464 5008 , , NA 16644 0.3998 NA 0.505 False NA ,,, NA NA NA 2504 0.4397 NA NA NA NA 0 T 2252,1430 694,864,283 143 134 136 1215 0.6 1 4 dbSNP_116 136 3818,4346 893,2032,1157 no coding-synonymous KIAA1430 NM_020827.1 1587,2896,1440 TT,TC,CC 46.7663,38.8376,48.7591 405/533 186097045 6070,5776 1841 4082 5923 SO:0001819 synonymous_variant NA NA NA NA ENST00000458385.2:c.1215G>A chr4.hg19:g.186097045C>T NA B3KRP7|D3DP60|Q05CU1|Q4W5M4|Q8N6E7|Q9UF45 hg19 CCDS47168.1 0.02 23.637182 TCCxGGC COVERED NOVEL KIAA1430-001 NOVEL basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000360717.2 2 32.973436 KEEP 0 2 64 132 4490 CC 1 1 0 - 22 60 838 0 0 54.581556 507 60 17828 804 ENST00000458385.2 0.041588 1 LRP2BP 55805 __UNKNOWN__ __UNKNOWN__ 4 186287283 186287283 __UNKNOWN__ 3'UTR SNP T T C rs72712010 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:186287283T>C ENST00000328559.7 - 0 2906 LRP2BP_ENST00000362004.3_3'UTR NM_018409.3 NP_060879.2 Q9P2M1 LR2BP_HUMAN LRP2 binding protein NA NA cytoplasm (GO:0005737) breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2) 15 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161) CTGTCTTCGATATGTATATTT 0.318 NA T||| 762 0.152157 0.1407 0.1902 5008 , , NA 18241 0.1796 NA 0.1342 False NA ,,, NA NA NA 2504 0.1309 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB037746 CCDS3840.1 4q35.1 2011-05-03 ENSG00000109771 ENSG00000109771 55805 25434 protein-coding gene gene with protein product NA 10718198, 12508107 Standard NM_018409 NM_018409 NA Approved DKFZp761O0113 uc003ixj.2 Q9P2M1 OTTHUMG00000160460 ENST00000328559.7:c.*1051A>G chr4.hg19:g.186287283T>C NA A6NJR7|A7E219|B3KX83|Q9NSN6 hg19 CCDS3840.1 0.02 6.701816 CGAxATG COVERED NOVEL LRP2BP-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000360679.2 2 8.726487 KEEP 0 0 0 29 913 TT 0.999997 0.999997 0 - 6 60 223 0 0 13.773962 172 60 6183 232 ENST00000328559.7 0.033708 1 LRP2BP 55805 __UNKNOWN__ __UNKNOWN__ 4 186298424 186298424 __UNKNOWN__ Intron SNP G G A rs28621464 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:186298424G>A ENST00000328559.7 - 2 918 LRP2BP_ENST00000505916.1_Intron|RP11-714G18.1_ENST00000514884.1_RNA|LRP2BP_ENST00000362004.3_Intron|LRP2BP_ENST00000510776.1_5'UTR NM_018409.3 NP_060879.2 Q9P2M1 LR2BP_HUMAN LRP2 binding protein NA NA cytoplasm (GO:0005737) breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2) 15 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161) gtaaatctcagcactctggga 0.502 NA G||| 1461 0.291733 0.4796 0.2997 5008 , , NA 18804 0.1905 NA 0.2137 False NA ,,, NA NA NA 2504 0.2168 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB037746 CCDS3840.1 4q35.1 2011-05-03 ENSG00000109771 ENSG00000109771 55805 25434 protein-coding gene gene with protein product NA 10718198, 12508107 Standard NM_018409 NM_018409 NA Approved DKFZp761O0113 uc003ixj.2 Q9P2M1 OTTHUMG00000160460 ENST00000328559.7:c.107-252C>T chr4.hg19:g.186298424G>A NA A6NJR7|A7E219|B3KX83|Q9NSN6 hg19 CCDS3840.1 0.02 7.356423 TCAxCAC COVERED NOVEL LRP2BP-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000360679.2 5 13.243086 KEEP 0 0 0 44 1581 GG 1 1 0 - 7 60 239 0 0 13.685006 220 60 8064 292 ENST00000328559.7 0.030837 1 LRP2BP 55805 __UNKNOWN__ __UNKNOWN__ 4 186299758 186299758 __UNKNOWN__ 5'UTR SNP G G A rs1048329 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:186299758G>A ENST00000328559.7 - 0 394 LRP2BP_ENST00000505916.1_Intron|RP11-714G18.1_ENST00000514884.1_RNA|LRP2BP_ENST00000362004.3_5'UTR|LRP2BP_ENST00000510776.1_5'UTR NM_018409.3 NP_060879.2 Q9P2M1 LR2BP_HUMAN LRP2 binding protein NA NA cytoplasm (GO:0005737) breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2) 15 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161) GACACTCATCGGACGAATCCA 0.443 NA G||| 1209 0.241414 0.3457 0.317 5008 , , NA 22551 0.1815 NA 0.1948 False NA ,,, NA NA NA 2504 0.1564 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AB037746 CCDS3840.1 4q35.1 2011-05-03 ENSG00000109771 ENSG00000109771 55805 25434 protein-coding gene gene with protein product NA 10718198, 12508107 Standard NM_018409 NM_018409 NA Approved DKFZp761O0113 uc003ixj.2 Q9P2M1 OTTHUMG00000160460 ENST00000328559.7:c.-418C>T chr4.hg19:g.186299758G>A NA A6NJR7|A7E219|B3KX83|Q9NSN6 hg19 CCDS3840.1 0.02 10.660351 ATCxGAC COVERED NOVEL LRP2BP-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000360679.2 0 13.476861 KEEP 0 1 32 56 1901 GG 1 1 0 - 9 60 339 0 0 20.726378 285 60 9931 430 ENST00000328559.7 0.030612 1 CCDC110 256309 __UNKNOWN__ __UNKNOWN__ 4 186392054 186392054 __UNKNOWN__ Intron SNP G G T rs77690701 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:186392054G>T ENST00000510617.1 - 2 176 CCDC110_ENST00000307588.3_Intron|CCDC110_ENST00000507501.1_Intron|CCDC110_ENST00000393540.3_Intron Q8TBZ0 CC110_HUMAN coiled-coil domain containing 110 NA NA nucleus (GO:0005634) NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9) 30 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749) OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164) AGATGCTGCCGCCTGTGTATA 0.577 NA g||| 32 0.00638978 0.0 0.0 5008 , , NA 13963 0.0317 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 G , 4,4402 6.2+/-15.9 0,4,2199 75 70 72 , -3.8 0 4 dbSNP_132 72 0,8600 0,0,4300 no intron,intron CCDC110 NM_001145411.1,NM_152775.3 , 0,4,6499 TT,TG,GG 0.0,0.0908,0.0308 , , 186392054 4,13002 2203 4300 6503 SO:0001627 intron_variant AB080722 CCDS3843.1, CCDS47170.1 4q35.1 2010-12-24 ENSG00000168491 ENSG00000168491 256309 28504 protein-coding gene gene with protein product cancer/testis antigen 52 609488 NA 18160854 Standard NM_152775 NM_152775 NA Approved KM-HN-1, MGC33607, CT52 uc003ixu.4 Q8TBZ0 OTTHUMG00000160415 ENST00000510617.1:c.115+44C>A chr4.hg19:g.186392054G>T NA Q86YI9|Q8N7W0 hg19 0.02 5.897622 GCCxCCT COVERED NOVEL CCDC110-003 NOVEL not_organism_supported|basic|appris_candidate_longest|exp_conf protein_coding NA protein_coding OTTHUMT00000360521.2 1 27.683751 KEEP 0 0 0 92 3015 GG 1 1 0 - 8 60 261 0 0 16.230197 148 60 4933 290 ENST00000510617.1 0.051282 1 SORBS2 8470 __UNKNOWN__ __UNKNOWN__ 4 186611819 186611819 __UNKNOWN__ Intron SNP A A G rs79427853 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:186611819A>G ENST00000437304.2 - 3 351 SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000284776.7_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000431808.1_Intron|SORBS2_ENST00000355634.5_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000448662.2_Intron NM_001145673.1 NP_001139145.1 O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 NA NA actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477) actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018) cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307) endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 53 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) AGAAAATATCATGAAAGTGTG 0.299 NA A||| 1149 0.229433 0.0885 0.2651 5008 , , NA 19456 0.2798 NA 0.2217 False NA ,,, NA NA NA 2504 0.3507 NA NA NA Esophageal Squamous(153;41 2433 9491 36028) NA 0 A ,,,,, 154,1230 8,138,546 148 131 136 ,,,,, 2.7 0 4 dbSNP_131 136 753,2429 81,591,919 no intron,intron,intron,intron,intron,intron SORBS2 NM_001145670.1,NM_001145671.1,NM_001145672.1,NM_001145673.1,NM_003603.5,NM_021069.4 ,,,,, 89,729,1465 GG,GA,AA 23.6644,11.1272,19.8642 ,,,,, ,,,,, 186611819 907,3659 692 1591 2283 SO:0001627 intron_variant CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1 4q35.1 2008-02-05 ENSG00000154556 ENSG00000154556 8470 24098 protein-coding gene gene with protein product Arg/Abl interacting protein NA 9211900, 9872452 Standard NM_003603 NM_021069 NA Approved ARGBP2, KIAA0777 uc003iym.3 O94875 OTTHUMG00000157215 ENST00000437304.2:c.233-11843T>C chr4.hg19:g.186611819A>G NA A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0 hg19 CCDS47175.1 0.02 19.689312 ATCxTGA COVERED NOVEL SORBS2-009 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000347952.2 3 13.44263 KEEP 0 3 104 81 2514 AA 1 1 0 - 16 60 569 0 0 34.38177 462 60 17099 669 ENST00000437304.2 0.033473 1 TLR3 7098 __UNKNOWN__ __UNKNOWN__ 4 187004074 187004074 __UNKNOWN__ Missense_Mutation SNP C C T rs3775291 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:187004074C>T ENST00000504367.1 + 2 813 c.403C>T c.(403-405)Ctc>Ttc p.L135F TLR3_ENST00000296795.3_Missense_Mutation_p.L412F O15455 TLR3_HUMAN toll-like receptor 3 412 NA activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666) cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020) double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888) p.L412F(1) breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 29 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16) CTTACACATACTCAACCTAAC 0.378 NA C||| 1161 0.231829 0.0265 0.3055 5008 , , NA 19216 0.3284 NA 0.3241 False NA ,,, NA NA NA 2504 0.2628 NA NA NA NA 1 Substitution - Missense(1) stomach(1) GRCh37 CM073380 TLR3 M rs3775291 C PHE/LEU 313,4093 163.3+/-195.1 12,289,1902 62 57 59 http://www.ncbi.nlm.nih.gov/sites/varvu?gene 1234 4.9 1 4 dbSNP_107 59 2496,6104 406.7+/-348.9 361,1774,2165 yes missense TLR3 NM_003265.2 22 373,2063,4067 TT,TC,CC 29.0233,7.1039,21.5977 probably-damaging 412/905 187004074 2809,10197 2203 4300 6503 SO:0001583 missense U88879 CCDS3846.1 4q35 2014-09-17 ENSG00000164342 7098 CD molecules 11849 protein-coding gene gene with protein product 603029 NA 9435236 Standard NM_003265 NA Approved CD283 uc003iyq.3 O15455 ENST00000504367.1:c.403C>T chr4.hg19:g.187004074C>T ENSP00000423684:p.Leu135Phe NA B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0 hg19 0.02 11.012163 ATAxTCA COVERED 548 0.2509157509157509 20 0.04065040650406504 108 0.2983425414364641 177 0.3094405594405594 243 0.32058047493403696 C 15.62 2.888156 0.52014 0.071039 0.290233 ENSG00000164342 ENST00000296795;ENST00000513189;ENST00000542020;ENST00000504367 T;T;T 0.80304 -1.36;0.95;-1.36 5.78 4.95 0.65309 . 0.054971 0.85682 N 0.000000 T 0.00039 0.0001 H 0.99336 4.52 0.09310 P 0.999999867741 D 0.89917 1.0 D 0.97110 1.0 T 0.00000 -1.3545 9 0.66056 D 0.02 . 14.7982 0.69894 0.0:0.9309:0.0:0.0691 rs3775291;rs52805499;rs56463237;rs60096761;rs3775291 412 O15455 TLR3_HUMAN F 412;348;412;135 ENSP00000296795:L412F;ENSP00000423386:L348F;ENSP00000423684:L135F ENSP00000296795:L412F L + 1 0 TLR3 187241068 0.999000 0.42202 0.965000 0.40720 0.296000 0.27459 4.031000 0.57267 1.458000 0.47871 0.557000 0.71058 CTC NOVEL TLR3-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000360345.2 1 15.651398 KEEP 0 0 0 52 1883 CC 1 1 0 + 18 60 667 1 0 46.053869 270 60 10184 391 ENST00000504367.1 0.0625 1 CYP4V2 285440 __UNKNOWN__ __UNKNOWN__ 4 187115841 187115841 __UNKNOWN__ Intron SNP C C T rs7682918 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:187115841C>T ENST00000378802.4 + 2 631 NM_207352.3 NP_997235.3 Q6ZWL3 CP4V2_HUMAN cytochrome P450, family 4, subfamily V, polypeptide 2 NA NA fatty acid omega-oxidation (GO:0010430)|response to stimulus (GO:0050896)|visual perception (GO:0007601) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705) breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2) 20 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17) ATCAATATAACGTGTCCTTAT 0.368 NA c||| 1429 0.285343 0.292 0.2709 5008 , , NA 18769 0.3383 NA 0.3728 False NA ,,, NA NA NA 2504 0.1421 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK022114 CCDS34119.1 4q35.2 2004-07-05 ENSG00000145476 ENSG00000145476 285440 Cytochrome P450s 23198 protein-coding gene gene with protein product 608614 NA 15042513 Standard XM_209612 NM_207352 NA Approved CYP4AH1 uc003iyw.4 Q6ZWL3 OTTHUMG00000160379 ENST00000378802.4:c.327+75C>T chr4.hg19:g.187115841C>T NA B7U6W2|Q6ZTM4 hg19 CCDS34119.1 0.02 4.408559 TAAxGTG COVERED NOVEL CYP4V2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000360398.1 1 12.339224 KEEP 0 0 0 41 1377 CC 1 1 0 + 6 60 231 0 0 15.36562 126 60 4195 206 ENST00000378802.4 0.045455 1 CYP4V2 285440 __UNKNOWN__ __UNKNOWN__ 4 187118662 187118662 __UNKNOWN__ Intron SNP G G T rs4862662 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:187118662G>T ENST00000378802.4 + 5 908 NM_207352.3 NP_997235.3 Q6ZWL3 CP4V2_HUMAN cytochrome P450, family 4, subfamily V, polypeptide 2 NA NA fatty acid omega-oxidation (GO:0010430)|response to stimulus (GO:0050896)|visual perception (GO:0007601) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705) breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2) 20 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17) GAATTGAATGGTTGCTTCTCA 0.383 NA G||| 1562 0.311901 0.3691 0.281 5008 , , NA 19571 0.3403 NA 0.3847 False NA ,,, NA NA NA 2504 0.1524 NA NA NA NA 0 G 1725,2681 517.7+/-369.5 325,1075,803 105 108 107 -10.4 0 4 dbSNP_111 107 3376,5224 499.6+/-375.0 689,1998,1613 no intron CYP4V2 NM_207352.3 1014,3073,2416 TT,TG,GG 39.2558,39.1512,39.2204 187118662 5101,7905 2203 4300 6503 SO:0001627 intron_variant AK022114 CCDS34119.1 4q35.2 2004-07-05 ENSG00000145476 ENSG00000145476 285440 Cytochrome P450s 23198 protein-coding gene gene with protein product 608614 NA 15042513 Standard XM_209612 NM_207352 NA Approved CYP4AH1 uc003iyw.4 Q6ZWL3 OTTHUMG00000160379 ENST00000378802.4:c.605-25G>T chr4.hg19:g.187118662G>T NA B7U6W2|Q6ZTM4 hg19 CCDS34119.1 0.02 22.541718 ATGxTTG COVERED NOVEL CYP4V2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000360398.1 2 33.412867 KEEP 0 3 94 144 5148 GG 1 1 0 + 24 60 884 0 0 57.689928 493 60 18483 849 ENST00000378802.4 0.046422 1 CYP4V2 285440 __UNKNOWN__ __UNKNOWN__ 4 187122304 187122304 __UNKNOWN__ Intron SNP C C T rs3817184|rs530014373|rs207482233 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:187122304C>T ENST00000378802.4 + 7 1105 NM_207352.3 NP_997235.3 Q6ZWL3 CP4V2_HUMAN cytochrome P450, family 4, subfamily V, polypeptide 2 NA NA fatty acid omega-oxidation (GO:0010430)|response to stimulus (GO:0050896)|visual perception (GO:0007601) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705) p.?(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2) 20 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17) TCATTCAAATCATACAGGTCA 0.413 NA C||| 1464 0.292332 0.3064 0.2781 5008 , , NA 17083 0.3413 NA 0.3837 False NA ,,, NA NA NA 2504 0.1391 NA NA NA NA 1 Unknown(1) stomach(1) C 1369,3037 452.8+/-350.1 205,959,1039 52 51 52 1.7 0.3 4 dbSNP_107 52 3411,5189 502.6+/-375.7 698,2015,1587 no intron CYP4V2 NM_207352.3 903,2974,2626 TT,TC,CC 39.6628,31.0713,36.7523 187122304 4780,8226 2203 4300 6503 SO:0001627 intron_variant AK022114 CCDS34119.1 4q35.2 2004-07-05 ENSG00000145476 ENSG00000145476 285440 Cytochrome P450s 23198 protein-coding gene gene with protein product 608614 NA 15042513 Standard XM_209612 NM_207352 NA Approved CYP4AH1 uc003iyw.4 Q6ZWL3 OTTHUMG00000160379 ENST00000378802.4:c.802-7C>T chr4.hg19:g.187122304C>T NA B7U6W2|Q6ZTM4 hg19 CCDS34119.1 0.02 4.079487 AATxATA COVERED NOVEL CYP4V2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000360398.1 0 8.963146 KEEP 0 1 29 40 1388 CC 1 0.999999 0 + 5 60 177 0 0 10.976116 120 60 4575 203 ENST00000378802.4 0.04 0.999999 CYP4V2 285440 __UNKNOWN__ __UNKNOWN__ 4 187130198 187130198 __UNKNOWN__ Intron SNP A A G rs2276918 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:187130198A>G ENST00000378802.4 + 9 1529 CYP4V2_ENST00000502665.1_Intron NM_207352.3 NP_997235.3 Q6ZWL3 CP4V2_HUMAN cytochrome P450, family 4, subfamily V, polypeptide 2 NA NA fatty acid omega-oxidation (GO:0010430)|response to stimulus (GO:0050896)|visual perception (GO:0007601) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705) breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2) 20 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17) GAAACTTTCTAATGTCTACCT 0.413 NA A||| 1496 0.298722 0.3003 0.2968 5008 , , NA 21290 0.3413 NA 0.4056 False NA ,,, NA NA NA 2504 0.1442 NA NA NA NA 0 A 1357,3049 451.6+/-349.7 204,949,1050 127 121 123 -5.6 0 4 dbSNP_100 123 3610,4990 521.4+/-379.9 783,2044,1473 no intron CYP4V2 NM_207352.3 987,2993,2523 GG,GA,AA 41.9767,30.7989,38.1901 187130198 4967,8039 2203 4300 6503 SO:0001627 intron_variant AK022114 CCDS34119.1 4q35.2 2004-07-05 ENSG00000145476 ENSG00000145476 285440 Cytochrome P450s 23198 protein-coding gene gene with protein product 608614 NA 15042513 Standard XM_209612 NM_207352 NA Approved CYP4AH1 uc003iyw.4 Q6ZWL3 OTTHUMG00000160379 ENST00000378802.4:c.1225+45A>G chr4.hg19:g.187130198A>G NA B7U6W2|Q6ZTM4 hg19 CCDS34119.1 0.02 18.714133 TCTxATG COVERED NOVEL CYP4V2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000360398.1 4 17.08303 KEEP 0 1 29 67 2053 AA 1 1 0 + 20 60 755 0 0 50.380863 389 60 13860 531 ENST00000378802.4 0.0489 1 KLKB1 3818 __UNKNOWN__ __UNKNOWN__ 4 187153290 187153290 __UNKNOWN__ Missense_Mutation SNP C C T rs148277206 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:187153290C>T ENST00000264690.6 + 3 255 c.68C>T c.(67-69)aCt>aTt p.T23I KLKB1_ENST00000513864.1_Missense_Mutation_p.T23I NM_000892.3 NP_000883.2 P03952 KLKB1_HUMAN kallikrein B, plasma (Fletcher factor) 1 23 Apple 1. {ECO:0000255|PROSITE- ProRule:PRU00315}. NA blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)|proteolysis (GO:0006508)|zymogen activation (GO:0031638) extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886) serine-type endopeptidase activity (GO:0004252) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 40 all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168) GGATGTCTGACTCAACTCTAT 0.398 NA C||| 37 0.00738818 0.0 0.0 5008 , , NA 16368 0.0357 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 C ILE/THR 2,4404 4.2+/-10.8 0,2,2201 105 95 99 68 3.5 0.6 4 dbSNP_134 99 2,8598 2.2+/-6.3 0,2,4298 yes missense KLKB1 NM_000892.3 89 0,4,6499 TT,TC,CC 0.0233,0.0454,0.0308 probably-damaging 23/639 187153290 4,13002 2203 4300 6503 SO:0001583 missense M13143 CCDS34120.1 4q35 2008-02-05 ENSG00000164344 ENSG00000164344 3818 Kallikreins 6371 protein-coding gene gene with protein product 229000 KLK3 NA 9535413, 3521732 Standard NM_000892 XM_005262987 NA Approved uc003iyy.3 P03952 OTTHUMG00000150347 ENST00000264690.6:c.68C>T chr4.hg19:g.187153290C>T ENSP00000264690:p.Thr23Ile NA A6NH96|B2R8H9|Q17RE8|Q17RE9|Q4W5C3 hg19 CCDS34120.1 0.02 16.600651 TGAxTCA COVERED 11|11 0.005036630036630037|0.005036630036630037 0|0 0.0|0.0 0|0 0.0|0.0 11|11 0.019230769230769232|0.019230769230769232 0|0 0.0|0.0 C|C 12.28|12.28 1.889928|1.889928 0.33348|0.33348 4.54E-4|4.54E-4 2.33E-4|2.33E-4 ENSG00000164344|ENSG00000164344 ENST00000511608|ENST00000428196;ENST00000264690;ENST00000513864 .|D;D;D .|0.88586 .|-2.4;-2.4;-2.4 5.25|5.25 3.54|3.54 0.40534|0.40534 .|Apple domain (2);PAN-1 domain (1);Apple-like (1); .|0.339766 .|0.28772 .|N .|0.014193 D|D 0.82962|0.82962 0.5151|0.5151 L|L 0.58969|0.58969 1.84|1.84 0.20975|0.20975 N|N 0.999817|0.999817 .|D .|0.55172 .|0.97 .|P .|0.54815 .|0.761 T|T 0.77897|0.77897 -0.2416|-0.2416 5|10 .|0.51188 .|T .|0.08 .|. 8.9512|8.9512 0.35790|0.35790 0.0:0.8273:0.0:0.1727|0.0:0.8273:0.0:0.1727 .|. .|23 .|P03952 .|KLKB1_HUMAN F|I 71|23 .|ENSP00000412366:T23I;ENSP00000264690:T23I;ENSP00000424469:T23I .|ENSP00000264690:T23I L|T +|+ 1|2 0|0 KLKB1|KLKB1 187390284|187390284 0.467000|0.467000 0.25831|0.25831 0.565000|0.565000 0.28409|0.28409 0.115000|0.115000 0.19883|0.19883 0.823000|0.823000 0.27366|0.27366 0.796000|0.796000 0.33947|0.33947 0.563000|0.563000 0.77884|0.77884 CTC|ACT NOVEL KLKB1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000317732.1 2 22.27269 KEEP 0 0 0 74 2650 CC 1 1 0 + 13 60 470 0 0 27.710544 432 60 16189 605 ENST00000264690.6 0.029213 1 FAT1 2195 __UNKNOWN__ __UNKNOWN__ 4 187524464 187524464 __UNKNOWN__ Missense_Mutation SNP G G A rs74511500 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:187524464G>A ENST00000441802.2 - 19 11425 c.11216C>T c.(11215-11217)gCg>gTg p.A3739V NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 3739 NA actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337) cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 GTCCAGTCCCGCGCAGAGTTT 0.458 NA HNSCC(5;0.00058) G||| 184 0.0367412 0.0 0.0879 5008 , , NA 21320 0.1181 NA 0.0 False NA ,,, NA NA NA 2504 0.0041 NA NA NA Colon(197;1040 2055 4143 4984 49344) NA 0 G VAL/ALA 5,3877 0,5,1936 66 63 64 11216 3.4 0.9 4 dbSNP_131 64 3,8277 0,3,4137 yes missense FAT1 NM_005245.3 64 0,8,6073 AA,AG,GG 0.0362,0.1288,0.0658 benign 3739/4589 187524464 8,12154 1941 4140 6081 SO:0001583 missense X87241 CCDS47177.1 4q35.2 2013-05-31 2013-05-31 2008-10-30 ENSG00000083857 ENSG00000083857 2195 Cadherins / Cadherin-related 3595 protein-coding gene gene with protein product cadherin-related family member 8 600976 FAT tumor suppressor (Drosophila) homolog, FAT tumor suppressor homolog 1 (Drosophila) FAT NA 8586420 Standard NM_005245 XM_005262834 NA Approved CDHF7, CDHR8 uc003izf.3 Q14517 OTTHUMG00000160320 ENST00000441802.2:c.11216C>T chr4.hg19:g.187524464G>A ENSP00000406229:p.Ala3739Val NA hg19 CCDS47177.1 0.02 10.633617 CCCxCGC COVERED 100 0.045787545787545784 0 0.0 27 0.07458563535911603 73 0.12762237762237763 0 0.0 G 10.55 1.380646 0.24944 0.001288 3.62E-4 ENSG00000083857 ENST00000441802;ENST00000260147 T 0.31247 1.5 4.21 3.36 0.38483 . 0.182307 0.47455 D 0.000231 T 0.00241 0.0007 L 0.51422 1.61 0.21675 P 0.99959905 D 0.54964 0.969 B 0.41510 0.359 T 0.11470 -1.0586 9 0.27785 T 0.31 . 8.9332 0.35684 0.1724:0.0:0.8276:0.0 . 3739 Q14517 FAT1_HUMAN V 3739;3741 ENSP00000406229:A3739V ENSP00000260147:A3741V A - 2 0 FAT1 187761458 1.000000 0.71417 0.950000 0.38849 0.632000 0.37999 3.979000 0.56888 1.122000 0.41944 0.563000 0.77884 GCG NOVEL FAT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000360209.3 1 18.055687 KEEP 0 0 0 60 2030 GG 1 1 0 - 12 60 429 0 0 27.481468 250 60 8588 397 ENST00000441802.2 0.045802 1 FAT1 2195 __UNKNOWN__ __UNKNOWN__ 4 187542755 187542755 __UNKNOWN__ Missense_Mutation SNP T T C rs28489116 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:187542755T>C ENST00000441802.2 - 10 5194 c.4985A>G c.(4984-4986)aAc>aGc p.N1662S NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 1662 Cadherin 14. {ECO:0000255|PROSITE- ProRule:PRU00043}. NA actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337) cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) p.N1662S(2)|p.N1665S(1) NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 CGGAGAGGCGTTGTCAGCAAT 0.408 NA HNSCC(5;0.00058) T||| 1004 0.200479 0.2141 0.1988 5008 , , NA 19433 0.3849 NA 0.1113 False NA ,,, NA NA NA 2504 0.0849 NA NA NA Colon(197;1040 2055 4143 4984 49344) NA 3 Substitution - Missense(3) prostate(3) T SER/ASN 605,3161 61,483,1339 94 91 92 4985 5.2 1 4 dbSNP_125 92 971,7257 69,833,3212 yes missense FAT1 NM_005245.3 46 130,1316,4551 CC,CT,TT 11.8012,16.0648,13.1399 benign 1662/4589 187542755 1576,10418 1883 4114 5997 SO:0001583 missense X87241 CCDS47177.1 4q35.2 2013-05-31 2013-05-31 2008-10-30 ENSG00000083857 ENSG00000083857 2195 Cadherins / Cadherin-related 3595 protein-coding gene gene with protein product cadherin-related family member 8 600976 FAT tumor suppressor (Drosophila) homolog, FAT tumor suppressor homolog 1 (Drosophila) FAT NA 8586420 Standard NM_005245 XM_005262834 NA Approved CDHF7, CDHR8 uc003izf.3 Q14517 OTTHUMG00000160320 ENST00000441802.2:c.4985A>G chr4.hg19:g.187542755T>C ENSP00000406229:p.Asn1662Ser NA hg19 CCDS47177.1 0.02 14.685642 GCGxTGT COVERED 495 0.22664835164835165 103 0.20934959349593496 75 0.20718232044198895 229 0.40034965034965037 88 0.11609498680738786 T 16.23 3.063325 0.55432 0.160648 0.118012 ENSG00000083857 ENST00000441802;ENST00000260147 T 0.60672 0.17 5.19 5.19 0.71726 Cadherin (3);Cadherin-like (1); 0.000000 0.85682 D 0.000000 T 0.00012 0.0000 M 0.77616 2.38 0.09310 P 0.99999999775895 D 0.71674 0.998 D 0.79784 0.993 T 0.17379 -1.0371 9 0.37606 T 0.19 . 15.5098 0.75772 0.0:0.0:0.0:1.0 rs28489116;rs58264946 1662 Q14517 FAT1_HUMAN S 1662;1664 ENSP00000406229:N1662S ENSP00000260147:N1664S N - 2 0 FAT1 187779749 1.000000 0.71417 0.999000 0.59377 0.794000 0.44872 7.825000 0.86693 2.304000 0.77564 0.528000 0.53228 AAC NOVEL FAT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000360209.3 2 15.325224 KEEP 0 0 0 51 1586 TT 1 1 0 - 12 60 474 0 0 30.679853 322 60 11436 467 ENST00000441802.2 0.035928 1 ZFP42 132625 __UNKNOWN__ __UNKNOWN__ 4 188925815 188925815 __UNKNOWN__ 3'UTR SNP G G A rs7665254 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:188925815G>A ENST00000326866.4 + 0 2262 ZFP42_ENST00000509524.1_3'UTR NM_174900.3 NP_777560.2 Q96MM3 ZFP42_HUMAN ZFP42 zinc finger protein NA NA female gonad development (GO:0008585)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|meiotic nuclear division (GO:0007126)|regulation of genetic imprinting (GO:2000653)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234) metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1) 27 all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227) OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157) ggttgcatacgcctgtgttcc 0.562 NA A||| 2709 0.540935 0.289 0.5821 5008 , , NA 13732 0.8016 NA 0.4841 False NA ,,, NA NA NA 2504 0.6421 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK056719 CCDS3849.1 4q35.2 2014-09-04 2012-11-27 ENSG00000179059 ENSG00000179059 132625 Zinc fingers, C2H2-type 30949 protein-coding gene gene with protein product 614572 zinc finger protein 42 homolog (mouse), zinc finger protein 42 NA 12110702 Standard NM_174900 NM_174900 NA Approved REX1, ZNF754 uc003izh.1 Q96MM3 OTTHUMG00000160235 ENST00000326866.4:c.*921G>A chr4.hg19:g.188925815G>A NA D3DP65|Q8WXE2 hg19 CCDS3849.1 0.02 2.05238 TACxCCT COVERED NOVEL ZFP42-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000359794.1 6 6.55621 KEEP 0 1 32 33 1151 GG 0.999999 0.999621 0 + 7 60 246 0 0 17.486686 77 60 2723 151 ENST00000326866.4 0.083333 0.999622 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 190095880 190095880 __UNKNOWN__ IGR SNP C C T rs13105647 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:190095880C>T NA NA RP11-818C3.1 (172651 upstream) : RP11-706F1.1 (18373 downstream) NA NA NA ccaggatggtctcgatctcct 0.542 NA C||| 2300 0.459265 0.2254 0.3444 5008 , , NA 12967 0.6508 NA 0.6153 False NA ,,, NA NA NA 2504 0.499 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.190095880C>T NA hg19 0.02 -0.034765 GGTxTCG UNCOVERED NOVEL 0 3 2.708952 KEEP 8 0 0 9 329 CC 0 0 0 3 40 79 0 0 8.313837 1 40 38 18 0.75 0.019982 AF146191.4 0 __UNKNOWN__ __UNKNOWN__ 4 190826058 190826058 __UNKNOWN__ lincRNA SNP C C G rs200140981 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:190826058C>G ENST00000511785.1 - 0 231 NA NA NA gcattccagcctgggtgacac 0.478 NA .||| 98 0.0195687 0.0008 0.0778 5008 , , NA 18875 0.0 NA 0.0358 False NA ,,, NA NA NA 2504 0.0072 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000511785.1: chr4.hg19:g.190826058C>G NA hg19 0.02 -0.27197 AGCxTGG COVERED NOVEL AF146191.4-001 KNOWN basic|exp_conf lincRNA NA lincRNA OTTHUMT00000361301.1 12 4.51499 KEEP 0 0 0 15 554 CC 0.99649 0.714798 0 - 3 60 107 0 0 9.478483 7 60 257 53 ENST00000511785.1 0.3 0.717315 FRG1 2483 __UNKNOWN__ __UNKNOWN__ 4 190864333 190864333 __UNKNOWN__ Intron SNP G G A rs80013880 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:190864333G>A ENST00000226798.4 + 2 284 FRG1_ENST00000514482.1_Intron NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 NA NA mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364) catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737) poly(A) RNA binding (GO:0044822) NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1) 32 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) ACCTAAACTCGTCTATATAAA 0.279 NA NA NA NA NA NA NA NA NA NA NA 0 25 29 27 NA NA 4 NA 190864333 2147 4241 6388 SO:0001627 intron_variant L76159 CCDS34121.1 4q35 2008-02-05 ENSG00000109536 ENSG00000109536 2483 3954 protein-coding gene gene with protein product 601278 NA 8733123 Standard NM_004477 XM_005262880 NA Approved FSG1, FRG1A uc003izs.3 Q14331 OTTHUMG00000160202 ENST00000226798.4:c.63-24G>A chr4.hg19:g.190864333G>A NA A8K775 hg19 CCDS34121.1 0.02 1.743606 CTCxTCT COVERED NOVEL FRG1-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000359622.4 0 3.072662 KEEP 0 2 56 30 921 GG 0.999997 0.99962 0 + 6 37 213 0 0 14.751158 79 60 2557 117 ENST00000226798.4 0.070588 0.999622 FRG1 2483 __UNKNOWN__ __UNKNOWN__ 4 190876263 190876263 __UNKNOWN__ Missense_Mutation SNP A A T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:190876263A>T ENST00000226798.4 + 5 611 c.389A>T c.(388-390)gAt>gTt p.D130V FRG1_ENST00000514482.1_3'UTR NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 130 NA mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364) catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737) poly(A) RNA binding (GO:0044822) NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1) 32 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) GGGCGTTCAGATGCAATTGGA 0.348 NA NA NA NA NA NA NA NA NA NA NA 0 92 92 92 NA NA 4 NA 190876263 2203 4300 6503 SO:0001583 missense L76159 CCDS34121.1 4q35 2008-02-05 ENSG00000109536 ENSG00000109536 2483 3954 protein-coding gene gene with protein product 601278 NA 8733123 Standard NM_004477 XM_005262880 NA Approved FSG1, FRG1A uc003izs.3 Q14331 OTTHUMG00000160202 ENST00000226798.4:c.389A>T chr4.hg19:g.190876263A>T ENSP00000226798:p.Asp130Val NA A8K775 hg19 CCDS34121.1 0.02 29.960618 CAGxTGC COVERED . . . . . . . . . . . 20.9 4.069168 0.76301 . . ENSG00000109536 ENST00000226798;ENST00000531991 T;T 0.53857 1.76;0.6 4.04 4.04 0.47022 Actin cross-linking (1); 0.000000 0.85682 D 0.000000 T 0.74465 0.3720 M 0.88031 2.925 0.80722 D 1 D 0.89917 1.0 D 0.85130 0.997 T 0.79347 -0.1841 10 0.87932 D 0 -2.6764 11.3071 0.49342 1.0:0.0:0.0:0.0 . 130 Q14331 FRG1_HUMAN V 130;67 ENSP00000226798:D130V;ENSP00000435943:D67V ENSP00000226798:D130V D + 2 0 FRG1 191113257 1.000000 0.71417 1.000000 0.80357 0.987000 0.75469 8.720000 0.91442 1.599000 0.50093 0.462000 0.41574 GAT NOVEL FRG1-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000359622.4 12 36.190209 KEEP 5 8 268 214 6916 AA 1 1 0 + 17 60 616 0 0 41.111794 293 60 10903 1270 ENST00000226798.4 0.054839 1 FRG1 2483 __UNKNOWN__ __UNKNOWN__ 4 190878419 190878419 __UNKNOWN__ Intron SNP T T C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:190878419T>C ENST00000226798.4 + 6 654 FRG1_ENST00000514482.1_Intron NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 NA NA mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364) catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737) poly(A) RNA binding (GO:0044822) NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1) 32 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) tcttgtattatatttttcagg 0.284 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L76159 CCDS34121.1 4q35 2008-02-05 ENSG00000109536 ENSG00000109536 2483 3954 protein-coding gene gene with protein product 601278 NA 8733123 Standard NM_004477 XM_005262880 NA Approved FSG1, FRG1A uc003izs.3 Q14331 OTTHUMG00000160202 ENST00000226798.4:c.433-134T>C chr4.hg19:g.190878419T>C NA A8K775 hg19 CCDS34121.1 0.02 18.926101 TTAxATT COVERED NOVEL FRG1-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000359622.4 8 9.319765 KEEP 6 0 0 31 837 TT 0.999997 0.999997 0 + 14 40 490 0 0 31.55965 276 60 10001 513 ENST00000226798.4 0.048276 1 FRG1 2483 __UNKNOWN__ __UNKNOWN__ 4 190878479 190878479 __UNKNOWN__ Intron SNP A A C rs12649932 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:190878479A>C ENST00000226798.4 + 6 654 FRG1_ENST00000514482.1_Intron NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 NA NA mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364) catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737) poly(A) RNA binding (GO:0044822) NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1) 32 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) AGGAAAAATTAATTCAGTCTA 0.308 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L76159 CCDS34121.1 4q35 2008-02-05 ENSG00000109536 ENSG00000109536 2483 3954 protein-coding gene gene with protein product 601278 NA 8733123 Standard NM_004477 XM_005262880 NA Approved FSG1, FRG1A uc003izs.3 Q14331 OTTHUMG00000160202 ENST00000226798.4:c.433-74A>C chr4.hg19:g.190878479A>C NA A8K775 hg19 CCDS34121.1 0.02 47.020055 ATTxATT COVERED NOVEL FRG1-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000359622.4 12 15.649025 KEEP 17 0 0 52 1693 AA 1 1 0 + 22 40 866 0 0 59.043233 424 60 15206 1064 ENST00000226798.4 0.049327 1 FRG1 2483 __UNKNOWN__ __UNKNOWN__ 4 190878487 190878487 __UNKNOWN__ Intron SNP C C G rs184174635 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:190878487C>G ENST00000226798.4 + 6 654 FRG1_ENST00000514482.1_Intron NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 NA NA mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364) catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737) poly(A) RNA binding (GO:0044822) NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1) 32 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) TTAATTCAGTCTAAACACTTA 0.313 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L76159 CCDS34121.1 4q35 2008-02-05 ENSG00000109536 ENSG00000109536 2483 3954 protein-coding gene gene with protein product 601278 NA 8733123 Standard NM_004477 XM_005262880 NA Approved FSG1, FRG1A uc003izs.3 Q14331 OTTHUMG00000160202 ENST00000226798.4:c.433-66C>G chr4.hg19:g.190878487C>G NA A8K775 hg19 CCDS34121.1 0.02 45.499681 AGTxTAA COVERED NOVEL FRG1-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000359622.4 12 7.999536 KEEP 17 2 76 53 1870 CC 1 1 0 + 22 49 889 0 0 61.53692 415 60 15695 1070 ENST00000226798.4 0.050343 1 FRG1 2483 __UNKNOWN__ __UNKNOWN__ 4 190878577 190878577 __UNKNOWN__ Missense_Mutation SNP A A G rs200267221 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:190878577A>G ENST00000226798.4 + 6 679 c.457A>G c.(457-459)Aat>Gat p.N153D FRG1_ENST00000514482.1_3'UTR NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 153 NA mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364) catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737) poly(A) RNA binding (GO:0044822) NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1) 32 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) GTTGGCCTCAAATAGCTGCTT 0.353 NA NA NA NA NA NA NA NA NA NA NA 0 14 18 17 NA NA 4 NA 190878577 2154 4261 6415 SO:0001583 missense L76159 CCDS34121.1 4q35 2008-02-05 ENSG00000109536 ENSG00000109536 2483 3954 protein-coding gene gene with protein product 601278 NA 8733123 Standard NM_004477 XM_005262880 NA Approved FSG1, FRG1A uc003izs.3 Q14331 OTTHUMG00000160202 ENST00000226798.4:c.457A>G chr4.hg19:g.190878577A>G ENSP00000226798:p.Asn153Asp NA A8K775 hg19 CCDS34121.1 0.02 43.387133 TCAxATA COVERED . . . . . . . . . . . 16.34 3.096595 0.56075 . . ENSG00000109536 ENST00000226798;ENST00000524583;ENST00000531991 T;T 0.50548 1.75;0.74 4.19 2.99 0.34606 Actin cross-linking (1); 0.000000 0.85682 D 0.000000 T 0.62950 0.2470 M 0.88105 2.93 0.58432 D 0.999994 P 0.35033 0.481 P 0.49085 0.6 T 0.60182 -0.7313 10 0.38643 T 0.18 -7.9248 8.2154 0.31507 0.9006:0.0:0.0994:0.0 . 153 Q14331 FRG1_HUMAN D 153;25;90 ENSP00000226798:N153D;ENSP00000435943:N90D ENSP00000226798:N153D N + 1 0 FRG1 191115571 1.000000 0.71417 1.000000 0.80357 0.430000 0.31655 9.035000 0.93752 0.593000 0.29745 -0.580000 0.04137 AAT NOVEL FRG1-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000359622.4 17 42.687877 KEEP 58 5 184 206 6570 AA 1 1 0 + 43 49 1642 1 0 113.037582 714 60 25714 1263 ENST00000226798.4 0.056803 1 FRG1 2483 __UNKNOWN__ __UNKNOWN__ 4 190878626 190878626 __UNKNOWN__ Missense_Mutation SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:190878626G>A ENST00000226798.4 + 6 728 c.506G>A c.(505-507)aGt>aAt p.S169N FRG1_ENST00000514482.1_3'UTR NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 169 NA mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364) catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737) poly(A) RNA binding (GO:0044822) p.S169N(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1) 32 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) GAAGCAAAAAGTAAAACAGCA 0.363 NA NA NA NA NA NA NA NA NA NA NA 1 Substitution - Missense(1) skin(1) 49 46 47 NA NA 4 NA 190878626 2184 4282 6466 SO:0001583 missense L76159 CCDS34121.1 4q35 2008-02-05 ENSG00000109536 ENSG00000109536 2483 3954 protein-coding gene gene with protein product 601278 NA 8733123 Standard NM_004477 XM_005262880 NA Approved FSG1, FRG1A uc003izs.3 Q14331 OTTHUMG00000160202 ENST00000226798.4:c.506G>A chr4.hg19:g.190878626G>A ENSP00000226798:p.Ser169Asn NA A8K775 hg19 CCDS34121.1 0.02 39.192207 AAAxTAA COVERED . . . . . . . . . . . 14.80 2.642895 0.47153 . . ENSG00000109536 ENST00000226798;ENST00000524583;ENST00000531991 T;T 0.48522 1.77;0.81 4.19 2.41 0.29592 Actin cross-linking (1); 0.160510 0.64402 N 0.000002 T 0.36552 0.0971 N 0.17723 0.515 0.45777 D 0.998661 P 0.35982 0.531 P 0.45406 0.479 T 0.07578 -1.0765 10 0.30854 T 0.27 0.1847 7.6816 0.28518 0.219:0.0:0.781:0.0 . 169 Q14331 FRG1_HUMAN N 169;41;106 ENSP00000226798:S169N;ENSP00000435943:S106N ENSP00000226798:S169N S + 2 0 FRG1 191115620 1.000000 0.71417 1.000000 0.80357 0.849000 0.48306 1.784000 0.38674 0.340000 0.23745 0.454000 0.30748 AGT NOVEL FRG1-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000359622.4 22 68.273756 KEEP 15 7 232 308 11258 GG 1 1 0 + 26 60 972 0 0 59.730371 781 60 29581 1503 ENST00000226798.4 0.032218 1 FRG1 2483 __UNKNOWN__ __UNKNOWN__ 4 190878693 190878693 __UNKNOWN__ Intron SNP C C A rs376321648 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:190878693C>A ENST00000226798.4 + 6 759 FRG1_ENST00000514482.1_Intron NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 NA NA mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364) catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737) poly(A) RNA binding (GO:0044822) NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1) 32 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) ACTGCATTCACACATGCGATG 0.328 NA NA NA NA NA NA NA NA NA NA NA 0 17 14 15 NA NA 4 NA 190878693 2115 4182 6297 SO:0001627 intron_variant L76159 CCDS34121.1 4q35 2008-02-05 ENSG00000109536 ENSG00000109536 2483 3954 protein-coding gene gene with protein product 601278 NA 8733123 Standard NM_004477 XM_005262880 NA Approved FSG1, FRG1A uc003izs.3 Q14331 OTTHUMG00000160202 ENST00000226798.4:c.537+36C>A chr4.hg19:g.190878693C>A NA A8K775 hg19 CCDS34121.1 0.02 34.097546 TCAxACA COVERED NOVEL FRG1-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000359622.4 7 68.925583 KEEP 36 0 0 229 8221 CC 1 1 0 + 20 60 724 0 0 42.537288 679 60 25752 1277 ENST00000226798.4 0.028612 1 FRG1 2483 __UNKNOWN__ __UNKNOWN__ 4 190881021 190881021 __UNKNOWN__ Intron SNP C C A rs373303976 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:190881021C>A ENST00000226798.4 + 7 759 FRG1_ENST00000514482.1_Intron NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 NA NA mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364) catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737) poly(A) RNA binding (GO:0044822) NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1) 32 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) TCTCTGTCAGCCCTTCACCTT 0.438 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L76159 CCDS34121.1 4q35 2008-02-05 ENSG00000109536 ENSG00000109536 2483 3954 protein-coding gene gene with protein product 601278 NA 8733123 Standard NM_004477 XM_005262880 NA Approved FSG1, FRG1A uc003izs.3 Q14331 OTTHUMG00000160202 ENST00000226798.4:c.538-882C>A chr4.hg19:g.190881021C>A NA A8K775 hg19 CCDS34121.1 0.02 21.454371 CAGxCCT COVERED NOVEL FRG1-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000359622.4 6 16.498497 KEEP 21 6 177 117 4255 CC 1 1 0 + 41 60 1435 0 0 111.122726 259 60 9461 900 ENST00000226798.4 0.136667 1 FRG1 2483 __UNKNOWN__ __UNKNOWN__ 4 190882925 190882925 __UNKNOWN__ Intron SNP T T C rs113609235 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:190882925T>C ENST00000226798.4 + 8 851 NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 NA NA mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364) catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737) poly(A) RNA binding (GO:0044822) NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1) 32 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) TAATAGTAAATATGTATAATC 0.313 NA NA NA NA NA NA NA NA NA NA NA 0 27 31 30 NA NA 4 NA 190882925 874 1989 2863 SO:0001627 intron_variant L76159 CCDS34121.1 4q35 2008-02-05 ENSG00000109536 ENSG00000109536 2483 3954 protein-coding gene gene with protein product 601278 NA 8733123 Standard NM_004477 XM_005262880 NA Approved FSG1, FRG1A uc003izs.3 Q14331 OTTHUMG00000160202 ENST00000226798.4:c.630-52T>C chr4.hg19:g.190882925T>C NA A8K775 hg19 CCDS34121.1 0.02 4.449025 AAAxATG COVERED NOVEL FRG1-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000359622.4 3 2.20468 KEEP 116 3 93 40 1155 TT 0.99986 0.999857 0 + 5 27 176 1 0 11.758842 79 60 2867 264 ENST00000226798.4 0.059524 0.999998 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 190893844 190893844 __UNKNOWN__ IGR SNP A A T rs80285552 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:190893844A>T NA NA FRG1 (9485 upstream) : RNA5SP174 (42448 downstream) NA NA NA aaaaaaaaaaattagctgggc 0.517 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.190893844A>T NA hg19 0.02 -0.271964 AAAxTTA COVERED NOVEL 0 4 3.309318 KEEP 2 0 0 11 326 AA 0.99254 0.711964 0 3 33 103 2 0 8.572543 11 60 390 47 0.214286 0.717315 Unknown 0 __UNKNOWN__ __UNKNOWN__ 4 190893895 190893895 __UNKNOWN__ IGR SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr4:190893895G>A NA NA FRG1 (9536 upstream) : RNA5SP174 (42397 downstream) NA NA NA ggcaaaggcagaggtgccaga 0.512 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr4.hg19:g.190893895G>A NA hg19 0.02 -0.333383 GCAxAGG COVERED NOVEL 0 4 3.009786 KEEP 0 0 0 10 352 GG 0.992708 0.845771 0 3 60 106 0 0 8.04816 22 60 832 59 0.12 0.851984 CEP72 55722 __UNKNOWN__ __UNKNOWN__ 5 653343 653343 __UNKNOWN__ 3'UTR SNP T T C rs2458815 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:653343T>C ENST00000264935.5 + 0 2109 CEP72_ENST00000444221.1_3'UTR NM_018140.3 NP_060610.2 Q9P209 CEP72_HUMAN centrosomal protein 72kDa NA NA G2/M transition of mitotic cell cycle (GO:0000086)|gamma-tubulin complex localization (GO:0033566)|mitotic cell cycle (GO:0000278)|spindle organization (GO:0007051) centrosome (GO:0005813)|cytosol (GO:0005829) autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2) 20 Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863) TACTTCTTTATTGAGTGTACT 0.473 NA c||| 1408 0.28115 0.3071 0.2406 5008 , , NA 19310 0.4673 NA 0.2296 False NA ,,, NA NA NA 2504 0.136 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC000132 CCDS34126.1 5p15.33 2014-02-20 ENSG00000112877 ENSG00000112877 55722 25547 protein-coding gene gene with protein product NA 10819331 Standard NM_018140 NM_018140 NA Approved KIAA1519, FLJ10565 uc003jbf.3 Q9P209 OTTHUMG00000161745 ENST00000264935.5:c.*75T>C chr5.hg19:g.653343T>C NA B4DR26|Q9BV03|Q9BWM3|Q9NVR4 hg19 CCDS34126.1 0.02 18.685043 TTAxTGA COVERED NOVEL CEP72-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000365967.3 5 11.13469 KEEP 0 0 0 37 1200 TT 1 1 0 + 14 60 544 0 0 34.214951 421 60 15200 559 ENST00000264935.5 0.032184 1 TPPP 11076 __UNKNOWN__ __UNKNOWN__ 5 663092 663092 __UNKNOWN__ 3'UTR SNP C C T rs9918259 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:663092C>T ENST00000360578.5 - 0 2906 CEP72_ENST00000514507.1_Intron NM_007030.2 NP_008961.1 O94811 TPPP_HUMAN tubulin polymerization promoting protein NA NA microtubule bundle formation (GO:0001578)|microtubule polymerization (GO:0046785)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein polymerization (GO:0032273) cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471) microtubule binding (GO:0008017)|tubulin binding (GO:0015631) kidney(1)|large_intestine(1)|lung(2)|prostate(1) 5 Ovarian(839;0.0563) Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863) GBM - Glioblastoma multiforme(108;0.0191) CGGGTGATTCCGATGACTGCT 0.577 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB017016 CCDS3856.1 5p15.33 2008-02-05 ENSG00000171368 ENSG00000171368 11076 24164 protein-coding gene gene with protein product brain specific protein p25 alpha 608773 NA 10083737, 12093283, 15590652, 17105200 Standard NM_007030 NM_007030 NA Approved p25alpha, TPPP1, p25, TPPP/p25 uc003jbh.4 O94811 OTTHUMG00000131011 ENST00000360578.5:c.*2125G>A chr5.hg19:g.663092C>T NA hg19 CCDS3856.1 0.02 7.230209 TTCxGAT COVERED NOVEL TPPP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253645.3 0 8.361905 KEEP 3 1 35 40 1343 CC 1 1 0 - 8 21 301 0 0 20.313646 144 60 4819 261 ENST00000360578.5 0.052632 1 ZDHHC11 79844 __UNKNOWN__ __UNKNOWN__ 5 795933 795933 __UNKNOWN__ 3'UTR SNP C C G rs1057011 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:795933C>G ENST00000283441.8 - 0 2392 ZDHHC11_ENST00000503758.2_5'UTR|ZDHHC11_ENST00000424784.2_Intron NM_024786.2 NP_079062.1 Q9H8X9 ZDH11_HUMAN zinc finger, DHHC-type containing 11 NA NA endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270) haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1) 21 Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863) TCCCATTTCCCAGTACTGTGC 0.483 NA C||| 1443 0.288139 0.4576 0.2867 5008 , , NA 21249 0.3601 NA 0.0835 False NA ,,, NA NA NA 2504 0.1963 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK023215 CCDS3857.1 5p15.2 2011-02-09 ENSG00000188818 ENSG00000188818 79844 Zinc fingers, DHHC-type 19158 protein-coding gene gene with protein product NA Standard NM_024786 NM_024786 NA Approved ZNF399, FLJ13153 uc011cma.1 Q9H8X9 OTTHUMG00000090319 ENST00000283441.8:c.*770G>C chr5.hg19:g.795933C>G NA Q6UWR9 hg19 CCDS3857.1 0.02 12.206068 TCCxAGT COVERED 522 0.23901098901098902 197 0.40040650406504064 79 0.21823204419889503 191 0.3339160839160839 55 0.07255936675461741 c 2.512 -0.312847 0.05422 . . ENSG00000215247 ENST00000436502 . . . 1.07 1.07 0.20283 . . . . . T 0.00012 0.0000 . . . 0.58432 P 4.000000000004E-6 . . . . . . T 0.39603 -0.9606 4 0.59425 D 0.04 . 8.0127 0.30363 0.0:1.0:0.0:0.0 rs1057011;rs3197623 . . . R 197 . ENSP00000404970:G197R G - 1 0 AC026740.1 848933 0.002000 0.14202 0.005000 0.12908 0.005000 0.04900 0.212000 0.17497 0.423000 0.26033 0.423000 0.28283 GGG NOVEL ZDHHC11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000206681.3 1 10.835484 KEEP 2 0 0 36 1291 CC 0.999999 0.999999 0 - 9 60 321 0 0 18.609912 310 60 11413 430 ENST00000283441.8 0.028213 1 ZDHHC11 79844 __UNKNOWN__ __UNKNOWN__ 5 801172 801172 __UNKNOWN__ Intron SNP C C T rs10462848 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:801172C>T ENST00000283441.8 - 12 1630 ZDHHC11_ENST00000503758.2_Intron|ZDHHC11_ENST00000424784.2_Intron NM_024786.2 NP_079062.1 Q9H8X9 ZDH11_HUMAN zinc finger, DHHC-type containing 11 NA NA endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270) haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1) 21 Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863) GAGAACCAAACTTGGGTAGAT 0.433 NA C||| 1293 0.258187 0.3442 0.2723 5008 , , NA 22916 0.381 NA 0.0825 False NA ,,, NA NA NA 2504 0.1861 NA NA NA NA 0 C 1215,3189 166,883,1153 106 78 87 -0.2 0 5 dbSNP_119 87 697,7893 52,593,3650 no intron ZDHHC11 NM_024786.2 218,1476,4803 TT,TC,CC 8.1141,27.5886,14.7145 801172 1912,11082 2202 4295 6497 SO:0001627 intron_variant AK023215 CCDS3857.1 5p15.2 2011-02-09 ENSG00000188818 ENSG00000188818 79844 Zinc fingers, DHHC-type 19158 protein-coding gene gene with protein product NA Standard NM_024786 NM_024786 NA Approved ZNF399, FLJ13153 uc011cma.1 Q9H8X9 OTTHUMG00000090319 ENST00000283441.8:c.1236+42G>A chr5.hg19:g.801172C>T NA Q6UWR9 hg19 CCDS3857.1 0.02 33.542293 AAAxTTG COVERED NOVEL ZDHHC11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000206681.3 3 24.078268 KEEP 4 0 0 80 2880 CC 1 1 0 - 45 60 1649 0 1 111.302841 750 60 28078 1033 ENST00000283441.8 0.056604 1 ZDHHC11 79844 __UNKNOWN__ __UNKNOWN__ 5 824291 824291 __UNKNOWN__ Intron SNP C C A rs67912577 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:824291C>A ENST00000283441.8 - 8 1407 ZDHHC11_ENST00000503758.2_Intron|ZDHHC11_ENST00000424784.2_Intron NM_024786.2 NP_079062.1 Q9H8X9 ZDH11_HUMAN zinc finger, DHHC-type containing 11 NA NA endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270) haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1) 21 Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863) GACCAGCCTGCggcctggcgt 0.552 NA C||| 1765 0.352436 0.6573 0.304 5008 , , NA 20000 0.3998 NA 0.0905 False NA ,,, NA NA NA 2504 0.1953 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK023215 CCDS3857.1 5p15.2 2011-02-09 ENSG00000188818 ENSG00000188818 79844 Zinc fingers, DHHC-type 19158 protein-coding gene gene with protein product NA Standard NM_024786 NM_024786 NA Approved ZNF399, FLJ13153 uc011cma.1 Q9H8X9 OTTHUMG00000090319 ENST00000283441.8:c.1023+987G>T chr5.hg19:g.824291C>A NA Q6UWR9 hg19 CCDS3857.1 0.02 6.762937 CTGxGGC COVERED NOVEL ZDHHC11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000206681.3 4 12.639768 KEEP 0 0 0 42 1465 CC 1 1 0 - 8 60 289 0 0 18.693514 163 60 5902 282 ENST00000283441.8 0.046784 1 ZDHHC11 79844 __UNKNOWN__ __UNKNOWN__ 5 825280 825280 __UNKNOWN__ Splice_Site SNP C C T rs1809008 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:825280C>T ENST00000283441.8 - 8 1405 c.1022G>A c.(1021-1023)cGg>cAg p.R341Q ZDHHC11_ENST00000503758.2_5'UTR|ZDHHC11_ENST00000424784.2_Splice_Site_p.R341Q NM_024786.2 NP_079062.1 Q9H8X9 ZDH11_HUMAN zinc finger, DHHC-type containing 11 341 NA R -> Q (in dbSNP:rs1809008). endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270) haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1) 21 Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863) GCAACTTACCCGTGCCGTCGA 0.537 NA c||| 1874 0.374201 0.6422 0.3386 5008 , , NA 27210 0.4127 NA 0.1541 False NA ,,, NA NA NA 2504 0.2239 NA NA NA NA 0 C GLN/ARG 2381,2025 580,1221,402 159 115 130 1022 -0.3 0 5 dbSNP_92 130 854,7732 60,734,3499 yes missense-near-splice ZDHHC11 NM_024786.2 43 640,1955,3901 TT,TC,CC 9.9464,45.9601,24.8999 benign 341/413 825280 3235,9757 2203 4293 6496 SO:0001630 splice_region_variant AK023215 CCDS3857.1 5p15.2 2011-02-09 ENSG00000188818 ENSG00000188818 79844 Zinc fingers, DHHC-type 19158 protein-coding gene gene with protein product NA Standard NM_024786 NM_024786 NA Approved ZNF399, FLJ13153 uc011cma.1 Q9H8X9 OTTHUMG00000090319 ENST00000283441.8:c.1023+1G>A chr5.hg19:g.825280C>T NA Q6UWR9 hg19 CCDS3857.1 0.02 20.083196 ACCxGTG COVERED 688 0.315018315018315 298 0.6056910569105691 93 0.2569060773480663 234 0.4090909090909091 63 0.08311345646437995 N 1.075 -0.668841 0.03403 0.540399 0.099464 ENSG00000188818 ENST00000424784;ENST00000283441 T;T 0.28069 1.63;1.63 0.131 -0.261 0.12963 . . . . . T 0.00012 0.0000 N 0.08118 0 0.80722 P 0.0 B 0.06786 0.001 B 0.01281 0.0 T 0.43180 -0.9407 7 0.10902 T 0.67 . . . . rs1809008;rs61386472 341 Q9H8X9 ZDH11_HUMAN Q 341 ENSP00000397719:R341Q;ENSP00000283441:R341Q ENSP00000283441:R341Q R - 2 0 ZDHHC11 878280 0.003000 0.15002 0.002000 0.10522 0.002000 0.02628 -0.384000 0.07389 -1.204000 0.02648 -1.197000 0.01672 CGG NOVEL ZDHHC11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000206681.3 2 12.475244 KEEP 0 1 33 53 1847 CC 1 1 0 Missense_Mutation - 12 60 454 0 0 27.028835 445 60 15757 652 ENST00000283441.8 0.026258 1 ZDHHC11 79844 __UNKNOWN__ __UNKNOWN__ 5 851002 851002 __UNKNOWN__ 5'UTR SNP A A G rs574343822|rs375770773|rs57727388|rs3747734 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:851002A>G ENST00000283441.8 - 0 99 NM_024786.2 NP_079062.1 Q9H8X9 ZDH11_HUMAN zinc finger, DHHC-type containing 11 NA NA endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270) haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1) 21 Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863) TGGAGGACCCAGTGCCCGCGC 0.642 NA 956 0.190895 0.2821 0.2464 5008 , , NA 15070 0.1786 NA 0.0636 False NA ,,, NA NA NA 2504 0.1718 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AK023215 CCDS3857.1 5p15.2 2011-02-09 ENSG00000188818 ENSG00000188818 79844 Zinc fingers, DHHC-type 19158 protein-coding gene gene with protein product NA Standard NM_024786 NM_024786 NA Approved ZNF399, FLJ13153 uc011cma.1 Q9H8X9 OTTHUMG00000090319 ENST00000283441.8:c.-285T>C chr5.hg19:g.851002A>G NA Q6UWR9 hg19 CCDS3857.1 0.02 16.898375 CCCxGTG COVERED NOVEL ZDHHC11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000206681.3 1 20.458381 KEEP 0 0 0 68 2097 AA 1 1 0 - 16 60 581 0 0 37.426997 339 60 12479 545 ENST00000283441.8 0.04507 1 NKD2 85409 __UNKNOWN__ __UNKNOWN__ 5 1009066 1009066 __UNKNOWN__ 5'UTR SNP C C A rs147030730 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:1009066C>A ENST00000296849.5 + 0 123 NM_033120.3 NP_149111.1 Q969F2 NKD2_HUMAN naked cuticle homolog 2 (Drosophila) NA NA exocytosis (GO:0006887)|Golgi vesicle fusion to target membrane (GO:0048210)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein processing (GO:0010954)|protein targeting to plasma membrane (GO:0072661)|Wnt signaling pathway (GO:0016055) basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cytoplasmic vesicle (GO:0031410) calcium ion binding (GO:0005509)|growth factor binding (GO:0019838)|ubiquitin protein ligase binding (GO:0031625) breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1) 14 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09) Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165) CTCCTACCGGCACCCTAGCTT 0.801 NA c||| 378 0.0754792 0.146 0.0548 5008 , , NA 3886 0.1101 NA 0.0249 False NA ,,, NA NA NA 2504 0.0112 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF358137 CCDS3859.1, CCDS59486.1 5p15.3 2013-01-10 ENSG00000145506 ENSG00000145506 85409 EF-hand domain containing 17046 protein-coding gene gene with protein product naked cuticle-2, Dvl-binding protein NKD2 607852 NA 11356022, 11604995 Standard NM_033120 NM_033120 NA Approved Naked2 uc003jbt.2 Q969F2 OTTHUMG00000090348 ENST00000296849.5:c.-107C>A chr5.hg19:g.1009066C>A NA Q96EK8|Q9BSN0 hg19 CCDS3859.1 0.02 8.126075 CGGxACC COVERED NOVEL NKD2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000206720.2 0 23.473934 KEEP 0 0 0 78 2703 CC 1 1 0 + 7 60 253 0 0 15.025337 224 60 8090 423 ENST00000296849.5 0.030303 1 NKD2 85409 __UNKNOWN__ __UNKNOWN__ 5 1036900 1036900 __UNKNOWN__ Intron SNP C C T rs34309815 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:1036900C>T ENST00000274150.4 + 9 883 NKD2_ENST00000382730.2_Silent_p.A2A|NKD2_ENST00000296849.5_Intron|NKD2_ENST00000537972.1_Intron NM_001271082.1 NP_001258011.1 Q969F2 NKD2_HUMAN naked cuticle homolog 2 (Drosophila) NA NA exocytosis (GO:0006887)|Golgi vesicle fusion to target membrane (GO:0048210)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein processing (GO:0010954)|protein targeting to plasma membrane (GO:0072661)|Wnt signaling pathway (GO:0016055) basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cytoplasmic vesicle (GO:0031410) calcium ion binding (GO:0005509)|growth factor binding (GO:0019838)|ubiquitin protein ligase binding (GO:0031625) breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1) 14 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09) Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165) TGTGGATGGCCGGCAGTGTGG 0.587 NA c||| 1929 0.385184 0.18 0.4006 5008 , , NA 14460 0.4583 NA 0.4652 False NA ,,, NA NA NA 2504 0.4939 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF358137 CCDS3859.1, CCDS59486.1 5p15.3 2013-01-10 ENSG00000145506 ENSG00000145506 85409 EF-hand domain containing 17046 protein-coding gene gene with protein product naked cuticle-2, Dvl-binding protein NKD2 607852 NA 11356022, 11604995 Standard NM_033120 NM_033120 NA Approved Naked2 uc003jbt.2 Q969F2 OTTHUMG00000090348 ENST00000274150.4:c.787+401C>T chr5.hg19:g.1036900C>T NA Q96EK8|Q9BSN0 hg19 CCDS59486.1 0.02 6.348442 GGCxGGC COVERED NOVEL NKD2-002 PUTATIVE basic|appris_candidate|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000365550.1 0 6.621003 KEEP 0 0 0 22 749 CC 0.999879 0.999879 0 + 7 60 259 0 0 16.538954 165 60 5607 251 ENST00000274150.4 0.040698 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 5 1039099 1039099 __UNKNOWN__ IGR SNP C C T rs6882594|rs370707105 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:1039099C>T NA NA NKD2 (41 upstream) : SLC12A7 (11399 downstream) NA NA NA GGCCACAGGGCACAGGGGGAG 0.667 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr5.hg19:g.1039099C>T NA hg19 0.02 1.637892 GGGxACA COVERED NOVEL 0 0 3.311006 KEEP 0 0 0 11 408 CC 0.993072 0.993021 0 8 60 252 0 0 17.360891 84 60 3192 133 0.086957 0.999948 Unknown 0 __UNKNOWN__ __UNKNOWN__ 5 1039120 1039120 __UNKNOWN__ IGR SNP T T C rs371360833|rs57435169|rs73731136 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:1039120T>C NA NA NKD2 (62 upstream) : SLC12A7 (11378 downstream) NA NA NA CCCACACCAGTGAGGAGGGGC 0.652 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr5.hg19:g.1039120T>C NA hg19 0.02 1.778125 CAGxGAG COVERED NOVEL 0 0 3.310445 KEEP 0 0 0 11 361 TT 0.993072 0.992395 0 11 60 343 0 0 25.980814 64 60 2332 101 0.146667 0.999317 SLC12A7 10723 __UNKNOWN__ __UNKNOWN__ 5 1051918 1051918 __UNKNOWN__ 3'UTR SNP G G A rs3810853 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:1051918G>A ENST00000264930.5 - 0 3852 NM_006598.2 NP_006589.2 Q9Y666 S12A7_HUMAN solute carrier family 12 (potassium/chloride transporter), member 7 NA NA cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901) breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 32 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09) Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165) Potassium Chloride(DB00761) AGGGTGACACGGGCATGGACA 0.597 NA g||| 601 0.120008 0.3147 0.1081 5008 , , NA 18033 0.0873 NA 0.0099 False NA ,,, NA NA NA 2504 0.0123 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF105365 CCDS34129.1 5p15 2013-07-18 2013-07-18 ENSG00000113504 ENSG00000113504 10723 Solute carriers 10915 protein-coding gene gene with protein product 604879 NA 10347194 Standard NM_006598 NM_006598 NA Approved KCC4, DKFZP434F076 uc003jbu.3 Q9Y666 OTTHUMG00000161931 ENST00000264930.5:c.*557C>T chr5.hg19:g.1051918G>A NA A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2 hg19 CCDS34129.1 0.02 15.483717 CACxGGC COVERED NOVEL SLC12A7-001 KNOWN non_canonical_TEC|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000366446.2 4 12.037681 KEEP 0 0 0 40 1344 GG 1 1 0 - 13 60 479 0 0 29.874975 344 60 11874 456 ENST00000264930.5 0.036415 1 SLC12A7 10723 __UNKNOWN__ __UNKNOWN__ 5 1065399 1065399 __UNKNOWN__ Splice_Site SNP C C T rs737154 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:1065399C>T ENST00000264930.5 - 18 2479 c.2436G>A c.(2434-2436)gtG>gtA p.V812V NM_006598.2 NP_006589.2 Q9Y666 S12A7_HUMAN solute carrier family 12 (potassium/chloride transporter), member 7 812 NA cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901) breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 32 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09) Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165) Potassium Chloride(DB00761) CATGCCTACCCACAAAGTTCT 0.647 NA C||| 2777 0.554513 0.5136 0.5749 5008 , , NA 18864 0.627 NA 0.5288 False NA ,,, NA NA NA 2504 0.547 NA NA NA NA 0 C 2236,2170 587.2+/-386.6 579,1078,546 58 59 58 2436 -9 0.2 5 dbSNP_86 58 4364,4236 575.9+/-390.3 1090,2184,1026 yes coding-synonymous-near-splice SLC12A7 NM_006598.2 1669,3262,1572 TT,TC,CC 49.2558,49.251,49.2542 812/1084 1065399 6600,6406 2203 4300 6503 SO:0001630 splice_region_variant AF105365 CCDS34129.1 5p15 2013-07-18 2013-07-18 ENSG00000113504 ENSG00000113504 10723 Solute carriers 10915 protein-coding gene gene with protein product 604879 NA 10347194 Standard NM_006598 NM_006598 NA Approved KCC4, DKFZP434F076 uc003jbu.3 Q9Y666 OTTHUMG00000161931 ENST00000264930.5:c.2437+1G>A chr5.hg19:g.1065399C>T NA A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2 hg19 CCDS34129.1 0.02 13.999463 ACCxACA COVERED 1215 0.5563186813186813 252 0.5121951219512195 207 0.5718232044198895 370 0.6468531468531469 386 0.5092348284960422 c 6.771 0.511170 0.12883 0.50749 0.507442 ENSG00000113504 ENST00000513223 . . . 4.49 -8.98 0.00754 . . . . . T 0.00012 0.0000 . . . 0.09310 P 0.9999999999994789 . . . . . . T 0.35051 -0.9804 3 . . . . 3.2522 0.06819 0.4154:0.2478:0.2544:0.0824 rs737154;rs4276450;rs737154 . . . R 170 . . G - 1 0 SLC12A7 1118399 0.001000 0.12720 0.218000 0.23776 0.682000 0.39822 -2.628000 0.00873 -2.135000 0.00811 0.467000 0.42956 GGA NOVEL SLC12A7-001 KNOWN non_canonical_TEC|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000366446.2 2 10.233357 KEEP 0 0 0 34 1209 CC 0.999998 0.999998 0 Silent - 11 60 430 0 0 27.095095 334 70 12540 476 ENST00000264930.5 0.031884 1 SLC12A7 10723 __UNKNOWN__ __UNKNOWN__ 5 1074560 1074560 __UNKNOWN__ Intron SNP A A C rs12523242 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:1074560A>C ENST00000264930.5 - 16 2116 NM_006598.2 NP_006589.2 Q9Y666 S12A7_HUMAN solute carrier family 12 (potassium/chloride transporter), member 7 NA NA cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901) breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 32 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09) Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165) Potassium Chloride(DB00761) TTCACACCCCAGACCTTGCCT 0.662 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF105365 CCDS34129.1 5p15 2013-07-18 2013-07-18 ENSG00000113504 ENSG00000113504 10723 Solute carriers 10915 protein-coding gene gene with protein product 604879 NA 10347194 Standard NM_006598 NM_006598 NA Approved KCC4, DKFZP434F076 uc003jbu.3 Q9Y666 OTTHUMG00000161931 ENST00000264930.5:c.2072+121T>G chr5.hg19:g.1074560A>C NA A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2 hg19 CCDS34129.1 0.02 4.496657 CCCxGAC COVERED NOVEL SLC12A7-001 KNOWN non_canonical_TEC|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000366446.2 0 3.310294 KEEP 0 0 0 11 352 AA 0.993072 0.993072 0 - 8 60 294 0 0 20.368984 115 60 4151 149 ENST00000264930.5 0.065041 0.999999 SLC12A7 10723 __UNKNOWN__ __UNKNOWN__ 5 1074818 1074818 __UNKNOWN__ Intron SNP C C T rs41280366 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:1074818C>T ENST00000264930.5 - 16 2011 NM_006598.2 NP_006589.2 Q9Y666 S12A7_HUMAN solute carrier family 12 (potassium/chloride transporter), member 7 NA NA cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901) breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 32 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09) Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165) Potassium Chloride(DB00761) TTTGTCCAGCCGCGTACCTGG 0.652 NA C||| 562 0.11222 0.0204 0.147 5008 , , NA 15140 0.1607 NA 0.1113 False NA ,,, NA NA NA 2504 0.1626 NA NA NA NA 0 C 140,4246 2,136,2055 22 19 20 -3.4 0 5 dbSNP_127 20 892,7696 50,792,3452 no intron SLC12A7 NM_006598.2 52,928,5507 TT,TC,CC 10.3866,3.192,7.9544 1074818 1032,11942 2193 4294 6487 SO:0001627 intron_variant AF105365 CCDS34129.1 5p15 2013-07-18 2013-07-18 ENSG00000113504 ENSG00000113504 10723 Solute carriers 10915 protein-coding gene gene with protein product 604879 NA 10347194 Standard NM_006598 NM_006598 NA Approved KCC4, DKFZP434F076 uc003jbu.3 Q9Y666 OTTHUMG00000161931 ENST00000264930.5:c.1968-32G>A chr5.hg19:g.1074818C>T NA A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2 hg19 CCDS34129.1 0.02 4.275762 AGCxGCG COVERED 247 0.1130952380952381 17 0.034552845528455285 46 0.1270718232044199 100 0.17482517482517482 84 0.11081794195250659 c 9.435 1.086434 0.20390 0.03192 0.103866 ENSG00000113504 ENST00000513223 T 0.70869 -0.52 1.72 -3.43 0.04810 . . . . . T 0.00210 0.0006 . . . 0.80722 P 0.0 . . . . . . T 0.05869 -1.0859 4 . . . . 3.4085 0.07350 0.2437:0.3976:0.0:0.3587 rs41280366 . . . Q 3 ENSP00000428854:R3Q . R - 2 0 SLC12A7 1127818 0.000000 0.05858 0.000000 0.03702 0.004000 0.04260 -1.878000 0.01630 -1.643000 0.01519 0.297000 0.19635 CGG NOVEL SLC12A7-001 KNOWN non_canonical_TEC|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000366446.2 0 5.417062 KEEP 0 0 0 18 614 CC 0.999859 0.999855 0 - 7 60 255 0 0 17.416921 107 60 3599 167 ENST00000264930.5 0.061404 0.999996 TERT 7015 __UNKNOWN__ __UNKNOWN__ 5 1255520 1255520 __UNKNOWN__ Silent SNP G G A rs33954691 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:1255520G>A ENST00000310581.5 - 14 3096 c.3039C>T c.(3037-3039)caC>caT p.H1013H TERT_ENST00000334602.6_Silent_p.H950H|TERT_ENST00000296820.5_3'UTR NM_001193376.1|NM_198253.2 NP_001180305.1|NP_937983.2 O14746 TERT_HUMAN telomerase reverse transcriptase 1013 CTE. NA DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004) chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697) metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721) NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 41 all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10) Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) Zidovudine(DB00495) GCACACATGCGTGAAACCTGA 0.587 NA TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis g||| 590 0.117812 0.0053 0.2334 5008 , , NA 23994 0.1667 NA 0.0974 False NA ,,, NA NA NA 2504 0.1585 NA NA NA NA 0 G , 86,4232 1,84,2074 71 76 75 2850,3039 -3.8 0.6 5 dbSNP_126 75 862,7664 57,748,3458 no coding-synonymous,coding-synonymous TERT NM_001193376.1,NM_198253.2 , 58,832,5532 AA,AG,GG 10.1103,1.9917,7.3809 , 950/1070,1013/1133 1255520 948,11896 2159 4263 6422 SO:0001819 synonymous_variant Familial Cancer Database ;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita AF015950 CCDS3861.2, CCDS54831.1 5p15.33 2014-09-17 ENSG00000164362 ENSG00000164362 7015 11730 protein-coding gene gene with protein product 187270 NA 9252327 Standard NM_198253 NA Approved TRT, TP2, TCS1, hEST2, EST2 uc003jcb.1 O14746 OTTHUMG00000090357 ENST00000310581.5:c.3039C>T chr5.hg19:g.1255520G>A NA O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46 hg19 CCDS3861.2 0.02 6.74863 TGCxTGA COVERED NOVEL TERT-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000206729.2 0 4.514773 KEEP 0 0 0 15 530 GG 0.99649 0.99649 0 - 8 60 299 0 0 19.431592 176 60 6251 242 ENST00000310581.5 0.043478 1 CLPTM1L 81037 __UNKNOWN__ __UNKNOWN__ 5 1323841 1323841 __UNKNOWN__ Intron SNP G G A rs140752465 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:1323841G>A ENST00000320895.5 - 12 1538 CLPTM1L_ENST00000320927.6_Intron|CLPTM1L_ENST00000506641.1_Intron|CLPTM1L_ENST00000507807.1_Intron NM_030782.3 NP_110409.2 Q96KA5 CLP1L_HUMAN CLPTM1-like NA NA apoptotic process (GO:0006915) integral component of membrane (GO:0016021)|membrane (GO:0016020) breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09) Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181) KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208) CTCTGGCTCAGTCATCCAAAT 0.622 NA G||| 4 0.000798722 0.0 0.0 5008 , , NA 15790 0.004 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK027306 CCDS3862.1 5p15.33 2008-02-05 ENSG00000049656 ENSG00000049656 81037 24308 protein-coding gene gene with protein product cisplatin resistance related protein 612585 NA 11162647 Standard NM_030782 NM_030782 NA Approved FLJ14400, CRR9 uc003jch.3 Q96KA5 OTTHUMG00000131015 ENST00000320895.5:c.1280+60C>T chr5.hg19:g.1323841G>A NA D3DTC1|Q658W6|Q7LG29|Q96AZ0|Q9H3N4 hg19 CCDS3862.1 0.02 2.091331 TCAxTCA COVERED NOVEL CLPTM1L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253649.2 0 5.718601 KEEP 0 0 0 19 678 GG 0.99986 0.995547 0 - 5 60 178 0 0 12.431253 63 60 2371 98 ENST00000320895.5 0.073529 0.995687 RP11-325I22.2 0 __UNKNOWN__ __UNKNOWN__ 5 1364439 1364439 __UNKNOWN__ lincRNA SNP T T C rs11745877 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:1364439T>C ENST00000504989.1 - 0 873 NA NA NA CTCTGACCTTTGTGAAATTTT 0.453 NA T||| 835 0.166733 0.1846 0.183 5008 , , NA 19872 0.0635 NA 0.3082 False NA ,,, NA NA NA 2504 0.092 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000504989.1: chr5.hg19:g.1364439T>C NA hg19 0.02 6.954104 CTTxGTG COVERED NOVEL RP11-325I22.2-001 KNOWN basic|exp_conf lincRNA NA lincRNA OTTHUMT00000365923.2 0 4.512438 KEEP 0 0 0 15 443 TT 0.99649 0.99649 0 - 6 60 222 0 0 13.766615 166 60 5962 234 ENST00000504989.1 0.034884 1 RP11-43F13.1 0 __UNKNOWN__ __UNKNOWN__ 5 1615831 1615831 __UNKNOWN__ RNA SNP C C T rs76377872 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:1615831C>T ENST00000507841.1 - 0 1385 NA NA NA CCCGGCAGCACGTACagaaga 0.418 NA C||| 492 0.0982428 0.0129 0.1297 5008 , , NA 19389 0.2292 NA 0.0249 False NA ,,, NA NA NA 2504 0.1319 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000507841.1: chr5.hg19:g.1615831C>T NA hg19 0.02 4.308573 GCAxGTA COVERED NOVEL RP11-43F13.1-003 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000365919.1 0 5.252173 KEEP 0 1 36 30 1038 CC 0.999997 0.999997 0 - 6 60 223 0 0 14.546378 127 60 4582 208 ENST00000507841.1 0.045113 1 MIR4277 100422966 __UNKNOWN__ __UNKNOWN__ 5 1708983 1708983 __UNKNOWN__ RNA SNP G G A rs12523324 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:1708983G>A ENST00000578298.1 - 0 0 NR_036240.1 microRNA 4277 NA NA NA CCTCGACCCAGAGCCAGACAA 0.627 NA a||| 3108 0.620607 0.6747 0.67 5008 , , NA 20437 0.5982 NA 0.6779 False NA ,,, NA NA NA 2504 0.4765 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA 5 2011-09-12 ENSG00000263746 100422966 ncRNAs / Micro RNAs 38367 non-coding RNA RNA, micro NA Standard NR_036240 NR_036240 NA Approved hsa-mir-4277 uc021xwg.1 ENST00000578298.1: chr5.hg19:g.1708983G>A NA hg19 0.02 5.490198 CCAxAGC COVERED NOVEL MIR4277-201 KNOWN basic miRNA NA miRNA 2 4.213464 KEEP 0 0 0 14 487 GG 0.995343 0.995343 0 - 7 60 240 0 0 14.317347 184 60 7003 244 ENST00000578298.1 0.036649 1 ADAMTS16 170690 __UNKNOWN__ __UNKNOWN__ 5 5242228 5242228 __UNKNOWN__ Silent SNP C C T rs77812048 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:5242228C>T ENST00000274181.7 + 17 2724 c.2586C>T c.(2584-2586)acC>acT p.T862T NM_139056.2 NP_620687.2 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 16 862 Spacer. NA branching involved in ureteric bud morphogenesis (GO:0001658) proteinaceous extracellular matrix (GO:0005578) metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270) breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 GCTTGGGGACCGAGAAGCAGC 0.562 NA C||| 367 0.0732827 0.0741 0.0086 5008 , , NA 17554 0.1865 NA 0.004 False NA ,,, NA NA NA 2504 0.0726 NA NA NA NA 0 C 225,3761 7,211,1775 51 58 55 2586 -10.8 0 5 dbSNP_131 55 13,8315 0,13,4151 no coding-synonymous ADAMTS16 NM_139056.2 7,224,5926 TT,TC,CC 0.1561,5.6448,1.9328 862/1225 5242228 238,12076 1993 4164 6157 SO:0001819 synonymous_variant AJ315734 CCDS43299.1 5p15 2008-07-18 2005-08-19 ENSG00000145536 ENSG00000145536 170690 ADAM metallopeptidases with thrombospondin type 1 motif 17108 protein-coding gene gene with protein product 607510 a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16 NA 11867212 Standard NM_139056 NM_139056 NA Approved ADAMTS16s uc003jdl.3 Q8TE57 OTTHUMG00000161663 ENST00000274181.7:c.2586C>T chr5.hg19:g.5242228C>T NA C6G490|Q8IVE2 hg19 CCDS43299.1 0.02 15.1679 GACxGAG COVERED NOVEL ADAMTS16-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000365657.1 0 19.859168 KEEP 0 0 0 66 2266 CC 1 1 0 + 12 60 439 0 0 26.824516 346 60 12258 560 ENST00000274181.7 0.03352 1 NSUN2 54888 __UNKNOWN__ __UNKNOWN__ 5 6604205 6604205 __UNKNOWN__ Intron SNP A A G rs2303709 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:6604205A>G ENST00000506139.1 - 16 1915 NSUN2_ENST00000264670.6_Intron|NSUN2_ENST00000539938.1_Intron NM_001193455.1 NP_001180384.1 Q08J23 NSUN2_HUMAN NOP2/Sun RNA methyltransferase family, member 2 NA NA mitotic nuclear division (GO:0007067)|tRNA methylation (GO:0030488) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleolus (GO:0005730)|nucleus (GO:0005634) poly(A) RNA binding (GO:0044822)|tRNA (cytosine-5-)-methyltransferase activity (GO:0016428)|tRNA binding (GO:0000049) breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 41 TGCTGGCCTTATAAAGGGAAT 0.398 NA G||| 1387 0.276957 0.1399 0.1988 5008 , , NA 20532 0.4633 NA 0.2535 False NA ,,, NA NA NA 2504 0.3497 NA NA NA NA 0 G , 615,3789 721.9+/-409.2 48,519,1635 81 82 82 , -5.2 0 5 dbSNP_100 82 2484,6116 689.1+/-404.3 352,1780,2168 no intron,intron NSUN2 NM_001193455.1,NM_017755.5 , 400,2299,3803 GG,GA,AA 28.8837,13.9646,23.8311 , , 6604205 3099,9905 2202 4300 6502 SO:0001627 intron_variant AK000310 CCDS3869.1, CCDS54832.1 5p15.32 2014-01-31 2012-06-12 ENSG00000037474 ENSG00000037474 54888 NOP2/Sun domain containing 25994 protein-coding gene gene with protein product tRNA methyltransferase 4 homolog (S. cerevisiae), Myc-induced SUN-domain-containing protein 610916 NOL1/NOP2/Sun domain family, member 2, NOP2/Sun domain family, member 2, mental retardation, non-syndromic, autosomal recessive, 5 MRT5 NA 17071714, 22541559 Standard NM_017755 NM_017755 NA Approved FLJ20303, TRM4, Misu uc003jdu.3 Q08J23 OTTHUMG00000090455 ENST00000506139.1:c.1852+45T>C chr5.hg19:g.6604205A>G NA A8K529|B2RNR4|B3KP09|B4DQW2|G3V1R4|Q9BVN4|Q9H858|Q9NXD9 hg19 CCDS54832.1 0.02 13.438373 CTTxTAA COVERED NOVEL NSUN2-004 NOVEL basic|appris_candidate|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000365825.1 1 7.056838 KEEP 0 1 36 36 1133 AA 1 1 0 - 15 60 568 0 0 37.714358 303 60 10985 443 ENST00000506139.1 0.04717 1 NSUN2 54888 __UNKNOWN__ __UNKNOWN__ 5 6604787 6604787 __UNKNOWN__ Silent SNP C C T rs13181449 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:6604787C>T ENST00000506139.1 - 15 1706 c.1644G>A c.(1642-1644)acG>acA p.T548T NSUN2_ENST00000264670.6_Silent_p.T583T|NSUN2_ENST00000539938.1_Silent_p.T347T NM_001193455.1 NP_001180384.1 Q08J23 NSUN2_HUMAN NOP2/Sun RNA methyltransferase family, member 2 583 NA mitotic nuclear division (GO:0007067)|tRNA methylation (GO:0030488) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleolus (GO:0005730)|nucleus (GO:0005634) poly(A) RNA binding (GO:0044822)|tRNA (cytosine-5-)-methyltransferase activity (GO:0016428)|tRNA binding (GO:0000049) breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 41 CTTTGATCCCCGTGTTAATAA 0.453 NA C||| 1112 0.222045 0.0371 0.1427 5008 , , NA 19971 0.4623 NA 0.1899 False NA ,,, NA NA NA 2504 0.3139 NA NA NA NA 0 C , 255,4151 145.0+/-179.8 8,239,1956 81 83 83 1644,1749 -10.7 0 5 dbSNP_121 83 1753,6847 316.6+/-312.8 186,1381,2733 yes coding-synonymous,coding-synonymous NSUN2 NM_001193455.1,NM_017755.5 , 194,1620,4689 TT,TC,CC 20.3837,5.7876,15.439 , 548/733,583/768 6604787 2008,10998 2203 4300 6503 SO:0001819 synonymous_variant AK000310 CCDS3869.1, CCDS54832.1 5p15.32 2014-01-31 2012-06-12 ENSG00000037474 ENSG00000037474 54888 NOP2/Sun domain containing 25994 protein-coding gene gene with protein product tRNA methyltransferase 4 homolog (S. cerevisiae), Myc-induced SUN-domain-containing protein 610916 NOL1/NOP2/Sun domain family, member 2, NOP2/Sun domain family, member 2, mental retardation, non-syndromic, autosomal recessive, 5 MRT5 NA 17071714, 22541559 Standard NM_017755 NM_017755 NA Approved FLJ20303, TRM4, Misu uc003jdu.3 Q08J23 OTTHUMG00000090455 ENST00000506139.1:c.1644G>A chr5.hg19:g.6604787C>T NA A8K529|B2RNR4|B3KP09|B4DQW2|G3V1R4|Q9BVN4|Q9H858|Q9NXD9 hg19 CCDS54832.1 0.02 9.61702 CCCxGTG COVERED NOVEL NSUN2-004 NOVEL basic|appris_candidate|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000365825.1 1 18.960443 KEEP 0 0 0 63 2159 CC 1 1 0 - 10 60 380 0 0 25.339236 199 60 6986 347 ENST00000506139.1 0.047847 1 NSUN2 54888 __UNKNOWN__ __UNKNOWN__ 5 6604931 6604931 __UNKNOWN__ Intron SNP C C T rs6889694 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:6604931C>T ENST00000506139.1 - 15 1695 NSUN2_ENST00000264670.6_Intron|NSUN2_ENST00000539938.1_Intron NM_001193455.1 NP_001180384.1 Q08J23 NSUN2_HUMAN NOP2/Sun RNA methyltransferase family, member 2 NA NA mitotic nuclear division (GO:0007067)|tRNA methylation (GO:0030488) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleolus (GO:0005730)|nucleus (GO:0005634) poly(A) RNA binding (GO:0044822)|tRNA (cytosine-5-)-methyltransferase activity (GO:0016428)|tRNA binding (GO:0000049) breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 41 CCGAGAAACCCCGGTTAAGAA 0.498 NA C||| 2759 0.550919 0.3775 0.585 5008 , , NA 17989 0.6677 NA 0.6491 False NA ,,, NA NA NA 2504 0.5399 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK000310 CCDS3869.1, CCDS54832.1 5p15.32 2014-01-31 2012-06-12 ENSG00000037474 ENSG00000037474 54888 NOP2/Sun domain containing 25994 protein-coding gene gene with protein product tRNA methyltransferase 4 homolog (S. cerevisiae), Myc-induced SUN-domain-containing protein 610916 NOL1/NOP2/Sun domain family, member 2, NOP2/Sun domain family, member 2, mental retardation, non-syndromic, autosomal recessive, 5 MRT5 NA 17071714, 22541559 Standard NM_017755 NM_017755 NA Approved FLJ20303, TRM4, Misu uc003jdu.3 Q08J23 OTTHUMG00000090455 ENST00000506139.1:c.1633-133G>A chr5.hg19:g.6604931C>T NA A8K529|B2RNR4|B3KP09|B4DQW2|G3V1R4|Q9BVN4|Q9H858|Q9NXD9 hg19 CCDS54832.1 0.02 1.651667 ACCxCGG COVERED NOVEL NSUN2-004 NOVEL basic|appris_candidate|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000365825.1 0 4.815365 KEEP 0 0 0 16 544 CC 0.997832 0.997392 0 - 4 60 140 1 0 8.927808 80 60 2860 104 ENST00000506139.1 0.047619 0.999559 NSUN2 54888 __UNKNOWN__ __UNKNOWN__ 5 6611215 6611215 __UNKNOWN__ Intron SNP T T C rs2303706 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:6611215T>C ENST00000506139.1 - 10 1053 NSUN2_ENST00000264670.6_Intron|NSUN2_ENST00000539938.1_Intron NM_001193455.1 NP_001180384.1 Q08J23 NSUN2_HUMAN NOP2/Sun RNA methyltransferase family, member 2 NA NA mitotic nuclear division (GO:0007067)|tRNA methylation (GO:0030488) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleolus (GO:0005730)|nucleus (GO:0005634) poly(A) RNA binding (GO:0044822)|tRNA (cytosine-5-)-methyltransferase activity (GO:0016428)|tRNA binding (GO:0000049) breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 41 AACCACAGGGTACATTCCAGA 0.468 NA T||| 94 0.01877 0.0 0.0 5008 , , NA 17611 0.0923 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 141 116 125 NA NA 5 NA 6611215 2203 4300 6503 SO:0001627 intron_variant AK000310 CCDS3869.1, CCDS54832.1 5p15.32 2014-01-31 2012-06-12 ENSG00000037474 ENSG00000037474 54888 NOP2/Sun domain containing 25994 protein-coding gene gene with protein product tRNA methyltransferase 4 homolog (S. cerevisiae), Myc-induced SUN-domain-containing protein 610916 NOL1/NOP2/Sun domain family, member 2, NOP2/Sun domain family, member 2, mental retardation, non-syndromic, autosomal recessive, 5 MRT5 NA 17071714, 22541559 Standard NM_017755 NM_017755 NA Approved FLJ20303, TRM4, Misu uc003jdu.3 Q08J23 OTTHUMG00000090455 ENST00000506139.1:c.991-17A>G chr5.hg19:g.6611215T>C NA A8K529|B2RNR4|B3KP09|B4DQW2|G3V1R4|Q9BVN4|Q9H858|Q9NXD9 hg19 CCDS54832.1 0.02 14.844705 GGGxACA COVERED NOVEL NSUN2-004 NOVEL basic|appris_candidate|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000365825.1 3 18.646508 KEEP 0 0 0 62 1880 TT 1 1 0 - 10 60 401 0 0 25.593628 307 60 10708 462 ENST00000506139.1 0.031546 1 NSUN2 54888 __UNKNOWN__ __UNKNOWN__ 5 6611757 6611757 __UNKNOWN__ Intron SNP A A T rs10454287 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:6611757A>T ENST00000506139.1 - 9 1053 NSUN2_ENST00000264670.6_Intron|NSUN2_ENST00000539938.1_Intron NM_001193455.1 NP_001180384.1 Q08J23 NSUN2_HUMAN NOP2/Sun RNA methyltransferase family, member 2 NA NA mitotic nuclear division (GO:0007067)|tRNA methylation (GO:0030488) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleolus (GO:0005730)|nucleus (GO:0005634) poly(A) RNA binding (GO:0044822)|tRNA (cytosine-5-)-methyltransferase activity (GO:0016428)|tRNA binding (GO:0000049) breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 41 AGTTACTCACACGTGAATGCT 0.378 NA A||| 2708 0.540735 0.3457 0.5778 5008 , , NA 18032 0.6667 NA 0.6471 False NA ,,, NA NA NA 2504 0.5389 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK000310 CCDS3869.1, CCDS54832.1 5p15.32 2014-01-31 2012-06-12 ENSG00000037474 ENSG00000037474 54888 NOP2/Sun domain containing 25994 protein-coding gene gene with protein product tRNA methyltransferase 4 homolog (S. cerevisiae), Myc-induced SUN-domain-containing protein 610916 NOL1/NOP2/Sun domain family, member 2, NOP2/Sun domain family, member 2, mental retardation, non-syndromic, autosomal recessive, 5 MRT5 NA 17071714, 22541559 Standard NM_017755 NM_017755 NA Approved FLJ20303, TRM4, Misu uc003jdu.3 Q08J23 OTTHUMG00000090455 ENST00000506139.1:c.990+80T>A chr5.hg19:g.6611757A>T NA A8K529|B2RNR4|B3KP09|B4DQW2|G3V1R4|Q9BVN4|Q9H858|Q9NXD9 hg19 CCDS54832.1 0.02 5.909635 CACxCGT COVERED NOVEL NSUN2-004 NOVEL basic|appris_candidate|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000365825.1 2 2.340845 KEEP 0 1 32 19 592 AA 0.999863 0.999863 0 - 10 60 368 0 0 24.333709 190 60 6956 245 ENST00000506139.1 0.05 1 NSUN2 54888 __UNKNOWN__ __UNKNOWN__ 5 6611983 6611983 __UNKNOWN__ Intron SNP C C A rs3733776 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:6611983C>A ENST00000506139.1 - 9 979 NSUN2_ENST00000264670.6_Intron|NSUN2_ENST00000539938.1_Intron NM_001193455.1 NP_001180384.1 Q08J23 NSUN2_HUMAN NOP2/Sun RNA methyltransferase family, member 2 NA NA mitotic nuclear division (GO:0007067)|tRNA methylation (GO:0030488) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleolus (GO:0005730)|nucleus (GO:0005634) poly(A) RNA binding (GO:0044822)|tRNA (cytosine-5-)-methyltransferase activity (GO:0016428)|tRNA binding (GO:0000049) breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 41 gtgaaaaaaaccagacacaga 0.428 NA C||| 2657 0.530551 0.3079 0.5764 5008 , , NA 20766 0.6667 NA 0.6471 False NA ,,, NA NA NA 2504 0.5389 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK000310 CCDS3869.1, CCDS54832.1 5p15.32 2014-01-31 2012-06-12 ENSG00000037474 ENSG00000037474 54888 NOP2/Sun domain containing 25994 protein-coding gene gene with protein product tRNA methyltransferase 4 homolog (S. cerevisiae), Myc-induced SUN-domain-containing protein 610916 NOL1/NOP2/Sun domain family, member 2, NOP2/Sun domain family, member 2, mental retardation, non-syndromic, autosomal recessive, 5 MRT5 NA 17071714, 22541559 Standard NM_017755 NM_017755 NA Approved FLJ20303, TRM4, Misu uc003jdu.3 Q08J23 OTTHUMG00000090455 ENST00000506139.1:c.917-72G>T chr5.hg19:g.6611983C>A NA A8K529|B2RNR4|B3KP09|B4DQW2|G3V1R4|Q9BVN4|Q9H858|Q9NXD9 hg19 CCDS54832.1 0.02 5.944138 AAAxCAG COVERED NOVEL NSUN2-004 NOVEL basic|appris_candidate|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000365825.1 0 11.135858 KEEP 0 0 0 37 1289 CC 1 1 0 - 6 60 214 0 0 13.123612 156 60 5692 225 ENST00000506139.1 0.037037 1 MTRR 4552 __UNKNOWN__ __UNKNOWN__ 5 7869235 7869235 __UNKNOWN__ 5'UTR SNP T T C rs72716536 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:7869235T>C ENST00000264668.2 + 0 19 MTRR_ENST00000502509.1_Intron NM_002454.2|NM_024010.2 NP_002445.2|NP_076915.2 Q9UBK8 MTRR_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase reductase NA NA cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|DNA methylation (GO:0006306)|folic acid metabolic process (GO:0046655)|methionine biosynthetic process (GO:0009086)|methionine metabolic process (GO:0006555)|methylation (GO:0032259)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805) cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634) [methionine synthase] reductase activity (GO:0030586)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, oxidizing metal ions, NAD or NADP as acceptor (GO:0016723) NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1) 31 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134) CTATTGGTCCTGGGTACCGAG 0.672 NA T||| 1147 0.229034 0.3646 0.3242 5008 , , NA 13493 0.1538 NA 0.1173 False NA ,,, NA NA NA 2504 0.1708 NA NA NA NA 0 T , 1391,3015 456.9+/-351.5 214,963,1026 82 85 84 , -3 0 5 dbSNP_130 84 901,7699 202.1+/-245.5 54,793,3453 no utr-5,utr-5 MTRR NM_002454.2,NM_024010.2 , 268,1756,4479 CC,CT,TT 10.4767,31.5706,17.6226 , , 7869235 2292,10714 2203 4300 6503 SO:0001623 5_prime_UTR_variant AF025794 CCDS3874.1, CCDS47190.1 5p15.31 2011-05-12 ENSG00000124275 ENSG00000124275 4552 1.16.1.8 7473 protein-coding gene gene with protein product 602568 NA 9501215 Standard NM_024010 NA Approved cblE uc003jed.3 Q9UBK8 OTTHUMG00000090477 ENST00000264668.2:c.-12T>C chr5.hg19:g.7869235T>C NA O60471|Q32MA9|Q7Z4M8 hg19 CCDS3874.1 0.02 6.440476 TCCxGGG COVERED NOVEL MTRR-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000206931.1 0 41.21883 KEEP 0 0 0 137 4208 TT 1 1 0 + 11 60 392 0 0 26.339731 174 60 6470 409 ENST00000264668.2 0.059459 1 FAM173B 134145 __UNKNOWN__ __UNKNOWN__ 5 10235490 10235490 __UNKNOWN__ Intron SNP G G A rs2292264 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:10235490G>A ENST00000511437.1 - 4 457 FAM173B_ENST00000510047.1_Intron|FAM173B_ENST00000510052.1_Intron|FAM173B_ENST00000280330.8_Intron NM_199133.3 NP_954584.2 Q6P4H8 F173B_HUMAN family with sequence similarity 173, member B NA NA integral component of membrane (GO:0016021) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 16 GGGTTTTGATGAACTCCTAAG 0.363 NA A||| 1691 0.33766 0.1225 0.3602 5008 , , NA 21217 0.7877 NA 0.1819 False NA ,,, NA NA NA 2504 0.3088 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS43301.1, CCDS58942.1 5p15.2 2008-08-08 ENSG00000150756 ENSG00000150756 134145 27029 protein-coding gene gene with protein product NA 12477932 Standard NM_199133 NM_199133 NA Approved uc003jeo.3 Q6P4H8 OTTHUMG00000161771 ENST00000511437.1:c.445-117C>T chr5.hg19:g.10235490G>A NA B4DT41|B4DXK2|E9PBZ4 hg19 CCDS43301.1 0.02 7.970842 GATxAAC COVERED NOVEL FAM173B-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000366048.2 2 3.947591 KEEP 0 1 31 24 844 GG 0.999931 0.999931 0 - 11 60 382 0 0 24.362684 215 60 7979 276 ENST00000511437.1 0.048673 1 FAM173B 134145 __UNKNOWN__ __UNKNOWN__ 5 10237036 10237036 __UNKNOWN__ Intron SNP A A G rs12653481 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:10237036A>G ENST00000511437.1 - 3 319 FAM173B_ENST00000510047.1_Intron|FAM173B_ENST00000510052.1_Intron|FAM173B_ENST00000280330.8_Intron NM_199133.3 NP_954584.2 Q6P4H8 F173B_HUMAN family with sequence similarity 173, member B NA NA integral component of membrane (GO:0016021) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 16 AGGTCGAACAAAACATTGCTG 0.443 NA A||| 1689 0.33726 0.1203 0.3602 5008 , , NA 19211 0.7887 NA 0.1819 False NA ,,, NA NA NA 2504 0.3088 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS43301.1, CCDS58942.1 5p15.2 2008-08-08 ENSG00000150756 ENSG00000150756 134145 27029 protein-coding gene gene with protein product NA 12477932 Standard NM_199133 NM_199133 NA Approved uc003jeo.3 Q6P4H8 OTTHUMG00000161771 ENST00000511437.1:c.307-309T>C chr5.hg19:g.10237036A>G NA B4DT41|B4DXK2|E9PBZ4 hg19 CCDS43301.1 0.02 12.42639 ACAxAAC COVERED NOVEL FAM173B-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000366048.2 0 16.850365 KEEP 0 0 0 56 1734 AA 1 1 0 - 14 60 531 0 0 36.329373 237 60 8678 385 ENST00000511437.1 0.055777 1 FAM173B 134145 __UNKNOWN__ __UNKNOWN__ 5 10239261 10239261 __UNKNOWN__ Missense_Mutation SNP G G A rs2438652 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:10239261G>A ENST00000511437.1 - 2 236 c.224C>T c.(223-225)aCg>aTg p.T75M FAM173B_ENST00000510047.1_Missense_Mutation_p.T75M|FAM173B_ENST00000510052.1_5'UTR|FAM173B_ENST00000280330.8_De_novo_Start_OutOfFrame NM_199133.3 NP_954584.2 Q6P4H8 F173B_HUMAN family with sequence similarity 173, member B 75 NA T -> M (in dbSNP:rs2438652). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}. integral component of membrane (GO:0016021) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 16 AATCTGCTTCGTAGTTGCAGG 0.522 NA G||| 1638 0.327077 0.1225 0.3401 5008 , , NA 21138 0.7877 NA 0.1551 False NA ,,, NA NA NA 2504 0.2965 NA NA NA NA 0 G MET/THR 519,3553 36,447,1553 119 116 117 224 5.2 0 5 dbSNP_100 117 1149,7207 87,975,3116 yes missense FAM173B NM_199133.2 81 123,1422,4669 AA,AG,GG 13.7506,12.7456,13.4213 benign 75/234 10239261 1668,10760 2036 4178 6214 SO:0001583 missense CCDS43301.1, CCDS58942.1 5p15.2 2008-08-08 ENSG00000150756 ENSG00000150756 134145 27029 protein-coding gene gene with protein product NA 12477932 Standard NM_199133 NM_199133 NA Approved uc003jeo.3 Q6P4H8 OTTHUMG00000161771 ENST00000511437.1:c.224C>T chr5.hg19:g.10239261G>A ENSP00000422338:p.Thr75Met NA B4DT41|B4DXK2|E9PBZ4 hg19 CCDS43301.1 0.02 15.318893 TTCxTAG COVERED 766 0.3507326007326007 69 0.1402439024390244 113 0.31215469613259667 467 0.8164335664335665 117 0.15435356200527706 G 11.71 1.720042 0.30503 0.127456 0.137506 ENSG00000150756 ENST00000511437;ENST00000510047 T;T 0.22336 1.96;1.96 5.19 5.19 0.71726 . 0.596788 0.18179 N 0.149210 T 0.00012 0.0000 M 0.65975 2.015 0.58432 P 4.000000000004E-6 D;B 0.67145 0.996;0.076 P;B 0.59056 0.851;0.009 T 0.02991 -1.1085 9 0.46703 T 0.11 -0.0589 17.7316 0.88379 0.0:0.0:1.0:0.0 rs2438652;rs17855827;rs61687093;rs2438652 75;75 E9PBZ4;Q6P4H8 .;F173B_HUMAN M 75 ENSP00000422338:T75M;ENSP00000420876:T75M ENSP00000424210:T75M T - 2 0 FAM173B 10292261 0.986000 0.35501 0.024000 0.17045 0.458000 0.32498 6.865000 0.75500 2.430000 0.82344 0.655000 0.94253 ACG NOVEL FAM173B-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000366048.2 1 18.091562 KEEP 0 1 31 71 2428 GG 1 1 0 - 23 60 833 0 0 57.385193 329 60 11549 497 ENST00000511437.1 0.065341 1 ROPN1L 83853 __UNKNOWN__ __UNKNOWN__ 5 10442199 10442199 __UNKNOWN__ 5'UTR SNP C C G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:10442199C>G ENST00000274134.4 + 0 212 ROPN1L_ENST00000503804.1_Intron|ROPN1L_ENST00000510520.1_3'UTR NM_001201466.1|NM_031916.4 NP_001188395.1|NP_114122.2 Q96C74 ROP1L_HUMAN rhophilin associated tail protein 1-like NA NA epithelial cilium movement (GO:0003351)|regulation of protein phosphorylation (GO:0001932)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317) cytoplasm (GO:0005737)|motile cilium (GO:0031514) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1) 14 GCTAGCGGGTCCACCGCGTCG 0.716 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF239723 CCDS3879.1 5p15 2011-01-20 2011-01-20 ENSG00000145491 ENSG00000145491 83853 24060 protein-coding gene gene with protein product radial spoke head 11 homolog (Chlamydomonas) 611756 ropporin 1-like NA 11278869 Standard NM_031916 NM_031916 NA Approved ASP, FLJ25776, RSPH11 uc021xwo.1 Q96C74 OTTHUMG00000090507 ENST00000274134.4:c.-81C>G chr5.hg19:g.10442199C>G NA D3DTC9|Q9BZX0 hg19 CCDS3879.1 0.02 8.746015 GGTxCAC COVERED NOVEL ROPN1L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000206995.1 2 22.864393 KEEP 0 0 0 76 2535 CC 1 1 0 + 15 60 531 0 0 35.901175 225 60 7798 353 ENST00000274134.4 0.0625 1 RP11-1C1.5 0 __UNKNOWN__ __UNKNOWN__ 5 10505585 10505585 __UNKNOWN__ 3'UTR SNP A A G rs17816571 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:10505585A>G ENST00000506021.1 - 0 296 RP11-1C1.5_ENST00000504650.1_5'UTR NA NA NA TTATTTCAAGACTGATTATTC 0.353 NA A||| 1185 0.236621 0.093 0.3559 5008 , , NA 21366 0.2609 NA 0.341 False NA ,,, NA NA NA 2504 0.2137 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant NA NA NA NA ENST00000506021.1:c.*5T>C chr5.hg19:g.10505585A>G NA hg19 0.02 36.394864 AAGxCTG COVERED NOVEL RP11-1C1.5-001 PUTATIVE basic|appris_principal|exp_conf protein_coding NA protein_coding OTTHUMT00000367032.1 5 8.998941 KEEP 0 2 75 56 1809 AA 1 1 0 - 30 60 1119 0 0 70.321273 792 60 28510 1093 ENST00000506021.1 0.036496 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 5 10524089 10524089 __UNKNOWN__ IGR SNP T T C rs2921166 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:10524089T>C NA NA RP11-1C1.5 (1893 upstream) : ANKRD33B (40490 downstream) NA NA NA AAAggccgggtgcggtggctc 0.567 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr5.hg19:g.10524089T>C NA hg19 0.02 -0.061409 GGGxGCG UNCOVERED NOVEL 0 3 2.707827 KEEP 2 0 0 9 275 TT 0 0 0 3 60 104 0 0 10.024922 3 60 108 21 0.5 0.043787 Unknown 0 __UNKNOWN__ __UNKNOWN__ 5 10524149 10524149 __UNKNOWN__ IGR SNP A A G rs2921165 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:10524149A>G NA NA RP11-1C1.5 (1953 upstream) : ANKRD33B (40430 downstream) NA NA NA ggatcacgagatcaggagatc 0.552 NA -||| 3555 0.709864 0.8215 0.7089 5008 , , NA 13295 0.6736 NA 0.5885 False NA ,,, NA NA NA 2504 0.7219 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr5.hg19:g.10524149A>G NA hg19 0.02 -0.061402 GAGxTCA UNCOVERED NOVEL 0 3 2.406948 KEEP 3 0 0 8 246 AA 0 0 0 3 60 104 0 0 10.02524 3 60 98 19 0.5 0.043787 DNAH5 1767 __UNKNOWN__ __UNKNOWN__ 5 13717447 13717447 __UNKNOWN__ Silent SNP A A G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:13717447A>G ENST00000265104.4 - 73 12786 c.12682T>C c.(12682-12684)Ttg>Ctg p.L4228L NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4228 NA cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986) axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777) NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) ATGTCATCCAAGTGGTTTTGG 0.537 NA Kartagener syndrome NA NA NA NA NA NA NA NA NA NA 0 71 57 62 NA NA 5 NA 13717447 2203 4300 6503 SO:0001819 synonymous_variant Familial Cancer Database Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome AJ132090 CCDS3882.1 5p15.2 2008-07-18 2006-09-04 ENSG00000039139 ENSG00000039139 1767 Axonemal dyneins 2950 protein-coding gene gene with protein product dynein heavy chain 5 603335 dynein, axonemal, heavy polypeptide 5 NA 9256245, 11788826 Standard NM_001369 NM_001369 NA Approved Dnahc5, HL1, PCD, CILD3, KTGNR uc003jfd.2 Q8TE73 OTTHUMG00000090533 ENST00000265104.4:c.12682T>C chr5.hg19:g.13717447A>G NA Q92860|Q96L74|Q9H5S7|Q9HCG9 hg19 CCDS3882.1 0.02 4.993254 CCAxGTG COVERED NOVEL DNAH5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207057.2 0 3.911502 KEEP 0 0 0 13 404 AA 0.994391 0.994386 0 - 5 60 198 0 0 13.336501 106 60 3814 150 ENST00000265104.4 0.045045 0.999995 DNAH5 1767 __UNKNOWN__ __UNKNOWN__ 5 13829799 13829799 __UNKNOWN__ Silent SNP G G A rs1348689 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:13829799G>A ENST00000265104.4 - 38 6368 c.6264C>T c.(6262-6264)gcC>gcT p.A2088A NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2088 AAA 1. {ECO:0000250}. NA cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986) axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777) NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CCTGCCGTCCGGCATAGCCAG 0.423 NA Kartagener syndrome G||| 2220 0.443291 0.4705 0.4207 5008 , , NA 21016 0.626 NA 0.3698 False NA ,,, NA NA NA 2504 0.3098 NA NA NA NA 0 G 2011,2395 561.5+/-380.7 451,1109,643 69 66 67 6264 -9.1 0.7 5 dbSNP_88 67 3135,5465 478.5+/-369.9 576,1983,1741 no coding-synonymous DNAH5 NM_001369.2 1027,3092,2384 AA,AG,GG 36.4535,45.6423,39.5664 2088/4625 13829799 5146,7860 2203 4300 6503 SO:0001819 synonymous_variant Familial Cancer Database Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome AJ132090 CCDS3882.1 5p15.2 2008-07-18 2006-09-04 ENSG00000039139 ENSG00000039139 1767 Axonemal dyneins 2950 protein-coding gene gene with protein product dynein heavy chain 5 603335 dynein, axonemal, heavy polypeptide 5 NA 9256245, 11788826 Standard NM_001369 NM_001369 NA Approved Dnahc5, HL1, PCD, CILD3, KTGNR uc003jfd.2 Q8TE73 OTTHUMG00000090533 ENST00000265104.4:c.6264C>T chr5.hg19:g.13829799G>A NA Q92860|Q96L74|Q9H5S7|Q9HCG9 hg19 CCDS3882.1 0.02 14.150404 TCCxGCA COVERED NOVEL DNAH5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207057.2 2 8.426993 KEEP 0 0 0 28 951 GG 0.999997 0.999997 0 - 15 60 544 0 0 35.675636 290 60 10057 401 ENST00000265104.4 0.04918 1 TRIO 7204 __UNKNOWN__ __UNKNOWN__ 5 14208920 14208920 __UNKNOWN__ Intron SNP A A G rs171592 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:14208920A>G ENST00000344204.4 + 2 181 TRIO_ENST00000509967.2_Intron|TRIO_ENST00000537187.1_Intron NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor NA NA apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185) cytosol (GO:0005829) ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) cctcacttctattttctgttc 0.423 NA A||| 2472 0.49361 0.3964 0.5461 5008 , , NA 20483 0.5218 NA 0.6302 False NA ,,, NA NA NA 2504 0.4182 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF091395 CCDS3883.1 5p14-p15.1 2013-01-11 2012-07-12 ENSG00000038382 ENSG00000038382 7204 Rho guanine nucleotide exchange factors, Immunoglobulin superfamily / I-set domain containing 12303 protein-coding gene gene with protein product 601893 triple functional domain (PTPRF interacting) NA 8643598 Standard NM_007118 NM_007118 NA Approved ARHGEF23 uc003jff.3 O75962 OTTHUMG00000131057 ENST00000344204.4:c.158-62014A>G chr5.hg19:g.14208920A>G NA D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8 hg19 CCDS3883.1 0.02 -0.289497 TCTxTTT COVERED NOVEL TRIO-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253711.2 0 8.121024 KEEP 0 0 0 27 836 AA 0.999988 0.760877 0 + 4 60 155 0 0 12.115941 29 60 1044 76 ENST00000344204.4 0.121212 0.760887 TRIO 7204 __UNKNOWN__ __UNKNOWN__ 5 14290805 14290805 __UNKNOWN__ Intron SNP G G A rs30629 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:14290805G>A ENST00000344204.4 + 5 564 TRIO_ENST00000509967.2_Intron|TRIO_ENST00000537187.1_Intron NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor NA NA apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185) cytosol (GO:0005829) ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) CTTCTCATACGTGATTTTTTT 0.338 NA G||| 2057 0.410743 0.1566 0.4524 5008 , , NA 19369 0.5645 NA 0.5795 False NA ,,, NA NA NA 2504 0.3926 NA NA NA NA 0 G 930,3476 341.0+/-306.5 118,694,1391 52 49 50 -10.2 0 5 dbSNP_76 50 4817,3783 609.7+/-395.6 1331,2155,814 no intron TRIO NM_007118.2 1449,2849,2205 AA,AG,GG 43.9884,21.1076,44.1873 14290805 5747,7259 2203 4300 6503 SO:0001627 intron_variant AF091395 CCDS3883.1 5p14-p15.1 2013-01-11 2012-07-12 ENSG00000038382 ENSG00000038382 7204 Rho guanine nucleotide exchange factors, Immunoglobulin superfamily / I-set domain containing 12303 protein-coding gene gene with protein product 601893 triple functional domain (PTPRF interacting) NA 8643598 Standard NM_007118 NM_007118 NA Approved ARHGEF23 uc003jff.3 O75962 OTTHUMG00000131057 ENST00000344204.4:c.541-20G>A chr5.hg19:g.14290805G>A NA D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8 hg19 CCDS3883.1 0.02 12.875261 TACxTGA COVERED NOVEL TRIO-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253711.2 2 7.55768 KEEP 0 1 31 36 1203 GG 1 1 0 + 14 60 478 0 0 29.89129 300 60 9864 387 ENST00000344204.4 0.044586 1 TRIO 7204 __UNKNOWN__ __UNKNOWN__ 5 14502867 14502867 __UNKNOWN__ Intron SNP A A G rs27094 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:14502867A>G ENST00000344204.4 + 54 8435 TRIO_ENST00000344135.5_Intron|TRIO_ENST00000537187.1_Intron NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor NA NA apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185) cytosol (GO:0005829) ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) CTTGCCAGCAATTGGAAGCTG 0.483 NA G||| 138 0.0275559 0.0038 0.0 5008 , , NA 24502 0.126 NA 0.002 False NA ,,, NA NA NA 2504 0.0041 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF091395 CCDS3883.1 5p14-p15.1 2013-01-11 2012-07-12 ENSG00000038382 ENSG00000038382 7204 Rho guanine nucleotide exchange factors, Immunoglobulin superfamily / I-set domain containing 12303 protein-coding gene gene with protein product 601893 triple functional domain (PTPRF interacting) NA 8643598 Standard NM_007118 NM_007118 NA Approved ARHGEF23 uc003jff.3 O75962 OTTHUMG00000131057 ENST00000344204.4:c.8411+101A>G chr5.hg19:g.14502867A>G NA D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8 hg19 CCDS3883.1 0.02 4.517297 GCAxTTG COVERED NOVEL TRIO-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253711.2 0 9.025167 KEEP 0 0 0 30 907 AA 0.999997 0.999997 0 + 6 60 222 0 0 14.467678 126 60 4651 199 ENST00000344204.4 0.045455 1 MYO10 4651 __UNKNOWN__ __UNKNOWN__ 5 16684143 16684143 __UNKNOWN__ Intron SNP A A T rs26315 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:16684143A>T ENST00000513610.1 - 30 4445 MYO10_ENST00000515803.1_Intron|MYO10_ENST00000505695.1_Intron|MYO10_ENST00000427430.2_Intron|MYO10_ENST00000274203.9_Intron NM_012334.2 NP_036466.2 Q9HD67 MYO10_HUMAN myosin X NA NA ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489) cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886) actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 86 CAGACAGAAAAGGCTCTTTTC 0.403 NA A||| 927 0.185104 0.0651 0.281 5008 , , NA 16504 0.2788 NA 0.2038 False NA ,,, NA NA NA 2504 0.1636 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF247457 CCDS54834.1 5p15.1-p14.3 2013-01-10 ENSG00000145555 4651 Myosins / Myosin superfamily : Class X, Pleckstrin homology (PH) domain containing 7593 protein-coding gene gene with protein product 601481 NA 8884266 Standard NM_012334 NM_012334 NA Approved KIAA0799 uc003jft.4 Q9HD67 ENST00000513610.1:c.3991-99T>A chr5.hg19:g.16684143A>T NA A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6 hg19 CCDS54834.1 0.02 7.120346 AAAxGGC COVERED NOVEL MYO10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000366167.1 1 10.230159 KEEP 0 0 0 34 1067 AA 0.999998 0.999998 0 - 8 60 309 0 0 21.085161 145 60 5466 235 ENST00000513610.1 0.052288 1 MYO10 4651 __UNKNOWN__ __UNKNOWN__ 5 16766269 16766269 __UNKNOWN__ Missense_Mutation SNP T T C rs77813219 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:16766269T>C ENST00000513610.1 - 11 1553 c.1099A>G c.(1099-1101)Aca>Gca p.T367A NM_012334.2 NP_036466.2 Q9HD67 MYO10_HUMAN myosin X 367 Myosin motor. NA ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489) cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886) actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 86 GTGAGCTGTGTTGGGTCCAGC 0.517 NA T||| 85 0.0169728 0.0 0.0576 5008 , , NA 16592 0.0446 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 T ALA/THR 2,3922 0,2,1960 123 121 122 1099 -1.4 0 5 dbSNP_132 122 5,8329 0,5,4162 yes missense MYO10 NM_012334.2 58 0,7,6122 CC,CT,TT 0.06,0.051,0.0571 benign 367/2059 16766269 7,12251 1962 4167 6129 SO:0001583 missense AF247457 CCDS54834.1 5p15.1-p14.3 2013-01-10 ENSG00000145555 4651 Myosins / Myosin superfamily : Class X, Pleckstrin homology (PH) domain containing 7593 protein-coding gene gene with protein product 601481 NA 8884266 Standard NM_012334 NM_012334 NA Approved KIAA0799 uc003jft.4 Q9HD67 ENST00000513610.1:c.1099A>G chr5.hg19:g.16766269T>C ENSP00000421280:p.Thr367Ala NA A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6 hg19 CCDS54834.1 0.02 9.50815 GTGxTGG COVERED 30 0.013736263736263736 0 0.0 15 0.04143646408839779 15 0.026223776223776224 0 0.0 T 2.307 -0.358834 0.05138 5.1E-4 6.0E-4 ENSG00000145555 ENST00000513610;ENST00000513882 T;T 0.71103 -0.54;-0.54 5.05 -1.44 0.08856 Myosin head, motor domain (2); . . . . T 0.13030 0.0316 N 0.02854 -0.475 0.09310 N 1 B 0.02656 0.0 B 0.04013 0.001 T 0.09443 -1.0674 9 0.08837 T 0.75 . 11.9025 0.52692 0.0:0.409:0.0:0.591 . 367 Q9HD67 MYO10_HUMAN A 367;378 ENSP00000421280:T367A;ENSP00000421309:T378A ENSP00000421280:T367A T - 1 0 MYO10 16819269 0.000000 0.05858 0.005000 0.12908 0.887000 0.51463 -0.423000 0.07034 -0.539000 0.06273 -0.353000 0.07706 ACA NOVEL MYO10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000366167.1 1 9.027103 KEEP 0 0 0 30 968 TT 0.999997 0.999997 0 - 10 60 363 0 0 23.62862 200 60 7172 272 ENST00000513610.1 0.047619 1 MYO10 4651 __UNKNOWN__ __UNKNOWN__ 5 16795012 16795012 __UNKNOWN__ Intron SNP C C T rs7737850 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:16795012C>T ENST00000513610.1 - 4 734 NM_012334.2 NP_036466.2 Q9HD67 MYO10_HUMAN myosin X NA NA ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489) cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886) actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 86 CCAACAAAACCCACCGAGTGT 0.547 NA C||| 963 0.192292 0.2458 0.1282 5008 , , NA 17505 0.1845 NA 0.1183 False NA ,,, NA NA NA 2504 0.2495 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF247457 CCDS54834.1 5p15.1-p14.3 2013-01-10 ENSG00000145555 4651 Myosins / Myosin superfamily : Class X, Pleckstrin homology (PH) domain containing 7593 protein-coding gene gene with protein product 601481 NA 8884266 Standard NM_012334 NM_012334 NA Approved KIAA0799 uc003jft.4 Q9HD67 ENST00000513610.1:c.280-70G>A chr5.hg19:g.16795012C>T NA A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6 hg19 CCDS54834.1 0.02 6.23225 AACxCAC COVERED NOVEL MYO10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000366167.1 3 12.640788 KEEP 0 0 0 42 1476 CC 1 1 0 - 6 60 218 0 0 13.158026 180 70 6619 280 ENST00000513610.1 0.032258 1 CDH18 1016 __UNKNOWN__ __UNKNOWN__ 5 20303378 20303378 __UNKNOWN__ Intron SNP T T G rs137855364 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:20303378T>G ENST00000507958.1 - 2 412 Q13634 CAD18_HUMAN cadherin 18, type 2 NA NA adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) CCATGGTGTATATGATAAGCT 0.403 NA G||| 255 0.0509185 0.1135 0.013 5008 , , NA 17035 0.0893 NA 0.002 False NA ,,, NA NA NA 2504 0.0041 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U59325 CCDS3889.1, CCDS54835.1, CCDS75229.1 5p14.3 2010-01-26 ENSG00000145526 ENSG00000145526 1016 Cadherins / Major cadherins 1757 protein-coding gene gene with protein product 603019 NA 9030594, 10191097 Standard NM_004934 NM_004934 NA Approved CDH14, EY-CADHERIN uc003jgd.3 Q13634 OTTHUMG00000090578 ENST00000507958.1:c.579-47764A>C chr5.hg19:g.20303378T>G NA A8K0I2|B4DHG6|Q8N5Z2 hg19 CCDS3889.1 0.02 16.870521 GTAxATG COVERED NOVEL CDH18-005 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000366747.1 1 5.415892 KEEP 0 0 0 18 555 TT 0.999859 0.999859 0 - 13 60 488 0 0 29.633743 422 60 15213 527 ENST00000507958.1 0.029885 1 CDH18 1016 __UNKNOWN__ __UNKNOWN__ 5 20303520 20303520 __UNKNOWN__ Intron SNP G G A rs142372631 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:20303520G>A ENST00000507958.1 - 2 412 Q13634 CAD18_HUMAN cadherin 18, type 2 NA NA adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) CAAGCTGTTCGTTTCTTTTTA 0.413 NA A||| 238 0.047524 0.1021 0.0101 5008 , , NA 18588 0.0893 NA 0.002 False NA ,,, NA NA NA 2504 0.0041 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U59325 CCDS3889.1, CCDS54835.1, CCDS75229.1 5p14.3 2010-01-26 ENSG00000145526 ENSG00000145526 1016 Cadherins / Major cadherins 1757 protein-coding gene gene with protein product 603019 NA 9030594, 10191097 Standard NM_004934 NM_004934 NA Approved CDH14, EY-CADHERIN uc003jgd.3 Q13634 OTTHUMG00000090578 ENST00000507958.1:c.579-47906C>T chr5.hg19:g.20303520G>A NA A8K0I2|B4DHG6|Q8N5Z2 hg19 CCDS3889.1 0.02 6.516101 TTCxTTT COVERED NOVEL CDH18-005 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000366747.1 4 2.40786 KEEP 0 0 0 8 283 GG 0.99257 0.99257 0 - 8 60 299 0 0 19.817408 157 60 5671 192 ENST00000507958.1 0.048485 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 5 21121275 21121275 __UNKNOWN__ IGR SNP G G C rs248205 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:21121275G>C NA NA RP11-774D14.1 (183475 upstream) : RP11-374A4.1 (202706 downstream) NA NA NA AGATTCATTAGAGTGTGTTGG 0.348 NA G||| 1850 0.369409 0.2738 0.4179 5008 , , NA 18804 0.5179 NA 0.2525 False NA ,,, NA NA NA 2504 0.4315 NA NA NA NA 0 G 454,1298 60,334,482 34 32 32 0.1 0 5 dbSNP_79 32 941,3041 95,751,1145 no intergenic 155,1085,1627 CC,CG,GG 23.6313,25.9132,24.3286 21121275 1395,4339 876 1991 2867 SO:0001628 intergenic_variant NA NA NA NA chr5.hg19:g.21121275G>C NA hg19 0.02 8.910211 TTAxAGT COVERED NOVEL 0 0 6.922295 KEEP 0 0 0 23 811 GG 0.999892 0.999892 0 7 60 264 0 0 15.954557 237 60 9186 316 0.028689 1 GUSBP1 728411 __UNKNOWN__ __UNKNOWN__ 5 21492328 21492328 __UNKNOWN__ RNA SNP A A C rs148145210 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:21492328A>C ENST00000607545.1 + 0 179 NR_027026.1 Q15486 GUSP1_HUMAN glucuronidase, beta pseudogene 1 NA NA carbohydrate metabolic process (GO:0005975)|nervous system development (GO:0007399)|skeletal system development (GO:0001501) hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553) NA tcctggactcaggtgatcctc 0.512 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA BC064850, X75940 5p14.3 2012-10-04 ENSG00000183666 ENSG00000183666 728411 13670 pseudogene pseudogene NA 8565635 Standard NG_008324 NR_027026 NA Approved uc010iub.3 Q15486 OTTHUMG00000162474 ENST00000607545.1: chr5.hg19:g.21492328A>C NA A6NLY8|A8K1B7|Q969T8|Q9BUH2 hg19 0.02 -0.184233 CTCxGGT COVERED NOVEL GUSBP1-006 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000470546.1 4 3.309842 KEEP 1 0 0 11 343 AA 0.993072 0.420544 0 + 5 33 160 0 0 13.380008 16 60 608 42 ENST00000607545.1 0.238095 0.423478 GUSBP1 728411 __UNKNOWN__ __UNKNOWN__ 5 21496821 21496821 __UNKNOWN__ RNA SNP A A G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:21496821A>G ENST00000607545.1 + 0 179 NR_027026.1 Q15486 GUSP1_HUMAN glucuronidase, beta pseudogene 1 NA NA carbohydrate metabolic process (GO:0005975)|nervous system development (GO:0007399)|skeletal system development (GO:0001501) hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553) NA gatgttgcccaggctggtctc 0.507 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA BC064850, X75940 5p14.3 2012-10-04 ENSG00000183666 ENSG00000183666 728411 13670 pseudogene pseudogene NA 8565635 Standard NG_008324 NR_027026 NA Approved uc010iub.3 Q15486 OTTHUMG00000162474 ENST00000607545.1: chr5.hg19:g.21496821A>G NA A6NLY8|A8K1B7|Q969T8|Q9BUH2 hg19 0.02 2.539917 CCCxGGC COVERED NOVEL GUSBP1-006 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000470546.1 9 5.951807 KEEP 26 1 35 32 988 AA 0.999863 0.963642 0 + 4 21 138 0 0 9.622509 47 43 1727 110 ENST00000607545.1 0.078431 0.963774 C5orf22 55322 __UNKNOWN__ __UNKNOWN__ 5 31538692 31538692 __UNKNOWN__ Missense_Mutation SNP A A C rs17410000 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:31538692A>C ENST00000325366.9 + 4 830 c.703A>C c.(703-705)Act>Cct p.T235P C5orf22_ENST00000355907.3_5'UTR NM_018356.2 NP_060826.2 Q49AR2 CE022_HUMAN chromosome 5 open reading frame 22 235 NA T -> P (in dbSNP:rs17410000). kidney(3)|large_intestine(2)|lung(10)|ovary(2)|skin(1) 18 TGCTGCCAGCACTGGGGAAAT 0.403 NA A||| 983 0.196286 0.0711 0.1816 5008 , , NA 19851 0.131 NA 0.3141 False NA ,,, NA NA NA 2504 0.3221 NA NA NA NA 0 A PRO/THR 551,3855 239.3+/-250.5 30,491,1682 50 49 49 703 -6.8 0 5 dbSNP_123 49 2835,5765 442.1+/-360.0 445,1945,1910 yes missense C5orf22 NM_018356.2 38 475,2436,3592 CC,CA,AA 32.9651,12.5057,26.0341 benign 235/443 31538692 3386,9620 2203 4300 6503 SO:0001583 missense AK002055 CCDS3895.1 5p13.3 2012-02-22 ENSG00000082213 ENSG00000082213 55322 25639 protein-coding gene gene with protein product NA Standard NM_018356 NM_018356 NA Approved FLJ11193 uc003jhj.4 Q49AR2 OTTHUMG00000131067 ENST00000325366.9:c.703A>C chr5.hg19:g.31538692A>C ENSP00000326879:p.Thr235Pro NA Q8ND28|Q8WU61|Q9NUR1 hg19 CCDS3895.1 0.02 14.719504 AGCxCTG COVERED 411 0.18818681318681318 24 0.04878048780487805 72 0.19889502762430938 84 0.14685314685314685 231 0.30474934036939316 A 10.64 1.406699 0.25378 0.125057 0.329651 ENSG00000082213 ENST00000325366 T 0.31769 1.48 5.99 -6.83 0.01693 . 0.662711 0.16506 N 0.211437 T 0.00012 0.0000 L 0.40543 1.245 0.58432 P 2.9999999999752447E-6 P 0.42584 0.784 P 0.45377 0.478 T 0.08889 -1.0700 9 0.42905 T 0.14 -1.5846 5.4152 0.16370 0.1444:0.2375:0.5003:0.1178 rs17410000;rs52792560;rs17410000 235 Q49AR2 CE022_HUMAN P 235 ENSP00000326879:T235P ENSP00000326879:T235P T + 1 0 C5orf22 31574449 0.001000 0.12720 0.000000 0.03702 0.001000 0.01503 0.792000 0.26929 -1.130000 0.02914 -0.313000 0.08912 ACT NOVEL C5orf22-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253726.2 3 23.444317 KEEP 0 0 0 78 2438 AA 1 1 0 + 14 60 484 0 0 29.463222 362 60 12988 563 ENST00000325366.9 0.037234 1 C5orf22 55322 __UNKNOWN__ __UNKNOWN__ 5 31541142 31541142 __UNKNOWN__ Intron SNP G G T rs17410035 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:31541142G>T ENST00000325366.9 + 5 997 C5orf22_ENST00000355907.3_Intron NM_018356.2 NP_060826.2 Q49AR2 CE022_HUMAN chromosome 5 open reading frame 22 NA NA kidney(3)|large_intestine(2)|lung(10)|ovary(2)|skin(1) 18 GTTTCTTTGGGGTTTTATTCA 0.368 NA G||| 958 0.191294 0.053 0.1801 5008 , , NA 12873 0.1319 NA 0.3151 False NA ,,, NA NA NA 2504 0.32 NA NA NA NA 0 G 471,3935 220.7+/-238.1 21,429,1753 68 70 69 -1.1 0 5 dbSNP_123 69 2834,5766 443.8+/-360.5 446,1942,1912 no intron C5orf22 NM_018356.2 467,2371,3665 TT,TG,GG 32.9535,10.69,25.4113 31541142 3305,9701 2203 4300 6503 SO:0001627 intron_variant AK002055 CCDS3895.1 5p13.3 2012-02-22 ENSG00000082213 ENSG00000082213 55322 25639 protein-coding gene gene with protein product NA Standard NM_018356 NM_018356 NA Approved FLJ11193 uc003jhj.4 Q49AR2 OTTHUMG00000131067 ENST00000325366.9:c.870+24G>T chr5.hg19:g.31541142G>T NA Q8ND28|Q8WU61|Q9NUR1 hg19 CCDS3895.1 0.02 1.777664 TGGxGTT COVERED NOVEL C5orf22-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253726.2 0 9.029339 KEEP 0 0 0 30 1051 GG 0.999997 0.999315 0 + 4 60 145 0 0 9.491746 77 60 2739 133 ENST00000325366.9 0.049383 0.999317 C5orf22 55322 __UNKNOWN__ __UNKNOWN__ 5 31553968 31553968 __UNKNOWN__ 3'UTR SNP T T C rs12658729 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:31553968T>C ENST00000325366.9 + 0 2415 C5orf22_ENST00000504866.1_3'UTR|C5orf22_ENST00000355907.3_3'UTR NM_018356.2 NP_060826.2 Q49AR2 CE022_HUMAN chromosome 5 open reading frame 22 NA NA kidney(3)|large_intestine(2)|lung(10)|ovary(2)|skin(1) 18 ATCCAGGAGGTCATTGTAGAT 0.338 NA T||| 1422 0.283946 0.1815 0.2161 5008 , , NA 18980 0.2867 NA 0.3797 False NA ,,, NA NA NA 2504 0.3691 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK002055 CCDS3895.1 5p13.3 2012-02-22 ENSG00000082213 ENSG00000082213 55322 25639 protein-coding gene gene with protein product NA Standard NM_018356 NM_018356 NA Approved FLJ11193 uc003jhj.4 Q49AR2 OTTHUMG00000131067 ENST00000325366.9:c.*959T>C chr5.hg19:g.31553968T>C NA Q8ND28|Q8WU61|Q9NUR1 hg19 CCDS3895.1 0.02 6.821906 AGGxCAT COVERED NOVEL C5orf22-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253726.2 0 5.416094 KEEP 0 0 0 18 581 TT 0.999859 0.999859 0 + 6 60 216 0 0 13.479213 147 60 5046 207 ENST00000325366.9 0.039216 1 PDZD2 23037 __UNKNOWN__ __UNKNOWN__ 5 32072213 32072213 __UNKNOWN__ Intron SNP A A C rs3797064 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:32072213A>C ENST00000438447.1 + 17 2956 PDZD2_ENST00000282493.3_Intron O15018 PDZD2_HUMAN PDZ domain containing 2 NA NA cell adhesion (GO:0007155) cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634) NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 ATAACCCTTGAAAGTCTGCTT 0.413 NA G||| 911 0.181909 0.2073 0.1614 5008 , , NA 20128 0.2312 NA 0.1461 False NA ,,, NA NA NA 2504 0.1483 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB002298 CCDS34137.1 5p14.1 2008-02-05 2006-01-24 2006-01-24 ENSG00000133401 23037 18486 protein-coding gene gene with protein product 610697 PDZ domain containing 3 PDZK3 NA 9205841 Standard XM_005248271 NA Approved KIAA0300 uc003jhm.3 O15018 ENST00000438447.1:c.2569-54A>C chr5.hg19:g.32072213A>C NA Q9BXD4 hg19 CCDS34137.1 0.02 18.0827 TTGxAAG COVERED NOVEL PDZD2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000366608.1 2 33.100423 KEEP 0 0 0 110 3568 AA 1 1 0 + 12 60 429 0 0 25.231412 434 60 15643 672 ENST00000438447.1 0.026906 1 PDZD2 23037 __UNKNOWN__ __UNKNOWN__ 5 32074509 32074509 __UNKNOWN__ Silent SNP G G A rs2291113 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:32074509G>A ENST00000438447.1 + 18 3685 c.3297G>A c.(3295-3297)acG>acA p.T1099T PDZD2_ENST00000282493.3_Silent_p.T1099T O15018 PDZD2_HUMAN PDZ domain containing 2 1099 NA cell adhesion (GO:0007155) cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634) NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 AGAGTCCGACGAACACTGGGA 0.592 NA G||| 494 0.0986422 0.0318 0.1066 5008 , , NA 19596 0.2232 NA 0.0507 False NA ,,, NA NA NA 2504 0.1043 NA NA NA NA 0 G 202,4204 126.6+/-163.6 2,198,2003 80 90 86 3297 3.6 0 5 dbSNP_100 86 587,8013 157.5+/-211.1 23,541,3736 no coding-synonymous PDZD2 NM_178140.2 25,739,5739 AA,AG,GG 6.8256,4.5847,6.0664 1099/2840 32074509 789,12217 2203 4300 6503 SO:0001819 synonymous_variant AB002298 CCDS34137.1 5p14.1 2008-02-05 2006-01-24 2006-01-24 ENSG00000133401 23037 18486 protein-coding gene gene with protein product 610697 PDZ domain containing 3 PDZK3 NA 9205841 Standard XM_005248271 NA Approved KIAA0300 uc003jhm.3 O15018 ENST00000438447.1:c.3297G>A chr5.hg19:g.32074509G>A NA Q9BXD4 hg19 CCDS34137.1 0.02 23.559343 GACxAAC COVERED NOVEL PDZD2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000366608.1 3 35.812558 KEEP 0 0 0 119 4076 GG 1 1 0 + 17 60 633 0 0 37.918683 577 60 20568 911 ENST00000438447.1 0.02862 1 PDZD2 23037 __UNKNOWN__ __UNKNOWN__ 5 32087808 32087808 __UNKNOWN__ Silent SNP G G C rs3733720 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:32087808G>C ENST00000438447.1 + 20 4642 c.4254G>C c.(4252-4254)ggG>ggC p.G1418G PDZD2_ENST00000282493.3_Silent_p.G1418G O15018 PDZD2_HUMAN PDZ domain containing 2 1418 NA cell adhesion (GO:0007155) cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634) NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 GCCCAGGGGGGAGTAGAGAGA 0.602 NA G||| 589 0.117612 0.0439 0.1441 5008 , , NA 19185 0.2371 NA 0.0755 False NA ,,, NA NA NA 2504 0.1186 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001819 synonymous_variant AB002298 CCDS34137.1 5p14.1 2008-02-05 2006-01-24 2006-01-24 ENSG00000133401 23037 18486 protein-coding gene gene with protein product 610697 PDZ domain containing 3 PDZK3 NA 9205841 Standard XM_005248271 NA Approved KIAA0300 uc003jhm.3 O15018 ENST00000438447.1:c.4254G>C chr5.hg19:g.32087808G>C NA Q9BXD4 hg19 CCDS34137.1 0.02 12.102117 GGGxAGT COVERED NOVEL PDZD2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000366608.1 1 21.969267 KEEP 0 0 0 73 2562 GG 1 1 0 + 9 60 341 1 0 21.495218 246 60 8922 391 ENST00000438447.1 0.035294 1 PDZD2 23037 __UNKNOWN__ __UNKNOWN__ 5 32090294 32090294 __UNKNOWN__ Missense_Mutation SNP G G A rs10066063 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:32090294G>A ENST00000438447.1 + 20 7128 c.6740G>A c.(6739-6741)cGg>cAg p.R2247Q PDZD2_ENST00000282493.3_Missense_Mutation_p.R2247Q O15018 PDZD2_HUMAN PDZ domain containing 2 2247 NA R -> Q (in dbSNP:rs10066063). cell adhesion (GO:0007155) cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634) NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 GGTCGCTCTCGGGACAGCCAG 0.597 NA G||| 581 0.116014 0.0431 0.1412 5008 , , NA 17880 0.2351 NA 0.0746 False NA ,,, NA NA NA 2504 0.1166 NA NA NA NA 0 G GLN/ARG 241,4165 141.9+/-177.2 4,233,1966 130 140 137 6740 0.4 0 5 dbSNP_119 137 767,7833 183.2+/-231.5 34,699,3567 yes missense PDZD2 NM_178140.2 43 38,932,5533 AA,AG,GG 8.9186,5.4698,7.7503 benign 2247/2840 32090294 1008,11998 2203 4300 6503 SO:0001583 missense AB002298 CCDS34137.1 5p14.1 2008-02-05 2006-01-24 2006-01-24 ENSG00000133401 23037 18486 protein-coding gene gene with protein product 610697 PDZ domain containing 3 PDZK3 NA 9205841 Standard XM_005248271 NA Approved KIAA0300 uc003jhm.3 O15018 ENST00000438447.1:c.6740G>A chr5.hg19:g.32090294G>A ENSP00000402033:p.Arg2247Gln NA Q9BXD4 hg19 CCDS34137.1 0.02 15.275909 CTCxGGA COVERED 257 0.11767399267399267 18 0.036585365853658534 40 0.11049723756906077 148 0.25874125874125875 51 0.06728232189973615 G 1.375 -0.584903 0.03827 0.054698 0.089186 ENSG00000133401 ENST00000438447;ENST00000382161;ENST00000282493 T;T 0.05649 3.41;3.41 4.66 0.432 0.16529 . 0.920619 0.09030 N 0.858893 T 0.00012 0.0000 L 0.27053 0.805 0.80722 P 0.0 B 0.18166 0.026 B 0.10450 0.005 T 0.48281 -0.9049 9 0.11485 T 0.65 . 3.7093 0.08413 0.3991:0.0:0.4169:0.184 rs10066063;rs52821994;rs61543309;rs10066063 2247 O15018 PDZD2_HUMAN Q 2247;2048;2247 ENSP00000402033:R2247Q;ENSP00000282493:R2247Q ENSP00000282493:R2247Q R + 2 0 PDZD2 32126051 0.000000 0.05858 0.005000 0.12908 0.090000 0.18270 0.560000 0.23500 0.145000 0.18977 0.561000 0.74099 CGG NOVEL PDZD2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000366608.1 0 25.882603 KEEP 0 0 0 86 2952 GG 1 1 0 + 15 60 559 0 0 36.025669 343 60 12029 527 ENST00000438447.1 0.041899 1 PDZD2 23037 __UNKNOWN__ __UNKNOWN__ 5 32093070 32093070 __UNKNOWN__ Silent SNP G G A rs16889442 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:32093070G>A ENST00000438447.1 + 21 8173 c.7785G>A c.(7783-7785)tcG>tcA p.S2595S PDZD2_ENST00000282493.3_Silent_p.S2595S O15018 PDZD2_HUMAN PDZ domain containing 2 2595 NA cell adhesion (GO:0007155) cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634) NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 CTGTTTTATCGTCAGTGGGAT 0.393 NA G||| 587 0.117212 0.0446 0.1398 5008 , , NA 18640 0.2381 NA 0.0755 False NA ,,, NA NA NA 2504 0.1176 NA NA NA NA 0 G 242,4164 142.7+/-177.9 4,234,1965 80 82 81 7785 -2.3 0 5 dbSNP_123 81 766,7834 182.9+/-231.2 33,700,3567 no coding-synonymous PDZD2 NM_178140.2 37,934,5532 AA,AG,GG 8.907,5.4925,7.7503 2595/2840 32093070 1008,11998 2203 4300 6503 SO:0001819 synonymous_variant AB002298 CCDS34137.1 5p14.1 2008-02-05 2006-01-24 2006-01-24 ENSG00000133401 23037 18486 protein-coding gene gene with protein product 610697 PDZ domain containing 3 PDZK3 NA 9205841 Standard XM_005248271 NA Approved KIAA0300 uc003jhm.3 O15018 ENST00000438447.1:c.7785G>A chr5.hg19:g.32093070G>A NA Q9BXD4 hg19 CCDS34137.1 0.02 8.989173 ATCxTCA COVERED NOVEL PDZD2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000366608.1 1 26.317542 KEEP 0 1 30 98 3387 GG 1 1 0 + 8 60 303 0 0 18.964646 227 60 8008 452 ENST00000438447.1 0.034043 1 PDZD2 23037 __UNKNOWN__ __UNKNOWN__ 5 32093210 32093210 __UNKNOWN__ Intron SNP C C T rs28450841 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:32093210C>T ENST00000438447.1 + 21 8233 PDZD2_ENST00000282493.3_Intron O15018 PDZD2_HUMAN PDZ domain containing 2 NA NA cell adhesion (GO:0007155) cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634) NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 CCCAGACAGCCGAGGAGAGCC 0.587 NA OREG0016544 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) C||| 641 0.127995 0.0658 0.1484 5008 , , NA 15929 0.2381 NA 0.0924 False NA ,,, NA NA NA 2504 0.1207 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB002298 CCDS34137.1 5p14.1 2008-02-05 2006-01-24 2006-01-24 ENSG00000133401 23037 18486 protein-coding gene gene with protein product 610697 PDZ domain containing 3 PDZK3 NA 9205841 Standard XM_005248271 NA Approved KIAA0300 uc003jhm.3 O15018 ENST00000438447.1:c.7845+80C>T chr5.hg19:g.32093210C>T 829 Q9BXD4 hg19 CCDS34137.1 0.02 1.990912 AGCxGAG COVERED NOVEL PDZD2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000366608.1 0 7.220493 KEEP 0 0 0 24 781 CC 0.999909 0.999771 0 + 4 60 145 0 0 9.289591 87 60 2705 119 ENST00000438447.1 0.043956 0.999862 PDZD2 23037 __UNKNOWN__ __UNKNOWN__ 5 32101168 32101168 __UNKNOWN__ Intron SNP A A T rs2279232 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:32101168A>T ENST00000438447.1 + 24 8606 PDZD2_ENST00000513490.1_Intron|PDZD2_ENST00000282493.3_Intron O15018 PDZD2_HUMAN PDZ domain containing 2 NA NA cell adhesion (GO:0007155) cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634) NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 TGGCATGATGAACAACCCTGT 0.547 NA A||| 2098 0.41893 0.264 0.585 5008 , , NA 20072 0.3264 NA 0.6342 False NA ,,, NA NA NA 2504 0.3845 NA NA NA NA 0 A 1476,2930 472.4+/-356.4 234,1008,961 137 114 122 -3.6 0 5 dbSNP_100 122 5729,2871 672.6+/-402.9 1917,1895,488 no intron PDZD2 NM_178140.2 2151,2903,1449 TT,TA,AA 33.3837,33.4998,44.6025 32101168 7205,5801 2203 4300 6503 SO:0001627 intron_variant AB002298 CCDS34137.1 5p14.1 2008-02-05 2006-01-24 2006-01-24 ENSG00000133401 23037 18486 protein-coding gene gene with protein product 610697 PDZ domain containing 3 PDZK3 NA 9205841 Standard XM_005248271 NA Approved KIAA0300 uc003jhm.3 O15018 ENST00000438447.1:c.8219-43A>T chr5.hg19:g.32101168A>T NA Q9BXD4 hg19 CCDS34137.1 0.02 7.820713 ATGxACA COVERED NOVEL PDZD2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000366608.1 3 12.192792 KEEP 0 3 66 64 2018 AA 1 1 0 + 7 60 244 0 0 14.435833 202 60 7284 333 ENST00000438447.1 0.033493 1 MTMR12 54545 __UNKNOWN__ __UNKNOWN__ 5 32229677 32229677 __UNKNOWN__ 3'UTR SNP G G A rs1873921 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:32229677G>A ENST00000382142.3 - 0 2621 MTMR12_ENST00000280285.5_3'UTR NM_001040446.1 NP_001035536.1 Q9C0I1 MTMRC_HUMAN myotubularin related protein 12 NA NA cytoplasm (GO:0005737) phosphatase activity (GO:0016791) breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 CTTCCAATTAGTAATACTACA 0.398 NA A||| 4056 0.809904 0.9841 0.7781 5008 , , NA 18910 0.6577 NA 0.7445 False NA ,,, NA NA NA 2504 0.8211 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB051469 CCDS34138.1, CCDS75230.1 5p15.33 2011-06-09 2005-04-07 2005-04-07 ENSG00000150712 ENSG00000150712 54545 Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins 18191 protein-coding gene gene with protein product 606501 phosphatidylinositol-3-phosphate associated protein PIP3AP NA 11504939, 12495846 Standard NM_019061 XM_005248313 NA Approved 3-PAP, FLJ20476, KIAA1682, 3PAP uc003jhq.3 Q9C0I1 OTTHUMG00000161978 ENST00000382142.3:c.*207C>T chr5.hg19:g.32229677G>A NA Q69YJ4|Q6PFW3|Q96QU2|Q9NX27 hg19 CCDS34138.1 0.02 4.592602 TTAxTAA COVERED NOVEL MTMR12-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000366579.1 1 7.825386 KEEP 0 0 0 26 934 GG 0.999957 0.999952 0 - 5 60 191 0 0 12.614387 107 60 4053 165 ENST00000382142.3 0.044643 0.999995 ADAMTS12 81792 __UNKNOWN__ __UNKNOWN__ 5 33524115 33524115 __UNKNOWN__ 3'UTR SNP A A C rs78632366 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:33524115A>C ENST00000504830.1 - 0 8298 NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 NA NA cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727) extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578) metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270) NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 ATTTTAGTCAACTAAATGGGA 0.378 NA HNSCC(64;0.19) A||| 49 0.00978435 0.0 0.0 5008 , , NA 21309 0.0486 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ250725 CCDS34140.1 5q35 2008-07-18 2005-08-19 ENSG00000151388 ENSG00000151388 81792 ADAM metallopeptidases with thrombospondin type 1 motif 14605 protein-coding gene gene with protein product 606184 a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12 NA 11279086 Standard NM_030955 NM_030955 NA Approved uc003jia.1 P58397 OTTHUMG00000162088 ENST00000504830.1:c.*3178T>G chr5.hg19:g.33524115A>C NA A2RRN9|A5D6V6|Q6UWL3 hg19 CCDS34140.1 0.02 9.373032 TCAxCTA COVERED NOVEL ADAMTS12-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000367164.2 4 8.725621 KEEP 0 0 0 29 907 AA 0.999997 0.999997 0 - 9 60 341 0 0 22.18881 205 60 7178 279 ENST00000504830.1 0.042056 1 ADAMTS12 81792 __UNKNOWN__ __UNKNOWN__ 5 33525321 33525321 __UNKNOWN__ 3'UTR SNP C C T rs27405 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:33525321C>T ENST00000504830.1 - 0 7092 NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 NA NA cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727) extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578) metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270) NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 GTCTCCTCTCCTCGAAAACCA 0.368 NA HNSCC(64;0.19) C||| 2544 0.507987 0.5779 0.4611 5008 , , NA 20864 0.6974 NA 0.336 False NA ,,, NA NA NA 2504 0.4284 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ250725 CCDS34140.1 5q35 2008-07-18 2005-08-19 ENSG00000151388 ENSG00000151388 81792 ADAM metallopeptidases with thrombospondin type 1 motif 14605 protein-coding gene gene with protein product 606184 a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12 NA 11279086 Standard NM_030955 NM_030955 NA Approved uc003jia.1 P58397 OTTHUMG00000162088 ENST00000504830.1:c.*1972G>A chr5.hg19:g.33525321C>T NA A2RRN9|A5D6V6|Q6UWL3 hg19 CCDS34140.1 0.02 10.294858 CTCxTCG COVERED NOVEL ADAMTS12-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000367164.2 1 8.728517 KEEP 0 0 0 29 1039 CC 0.999997 0.999997 0 - 11 60 425 0 0 29.279633 188 60 7058 272 ENST00000504830.1 0.055276 1 ADAMTS12 81792 __UNKNOWN__ __UNKNOWN__ 5 33535060 33535060 __UNKNOWN__ Missense_Mutation SNP G G A rs25754 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:33535060G>A ENST00000504830.1 - 23 4819 c.4484C>T c.(4483-4485)aCt>aTt p.T1495I ADAMTS12_ENST00000352040.3_Missense_Mutation_p.T1410I NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 1495 TSP type-1 8. {ECO:0000255|PROSITE- ProRule:PRU00210}. NA T -> I (in dbSNP:rs25754). {ECO:0000269|PubMed:11279086}. cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727) extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578) metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270) NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 ACATTGGACAGTCCTCTTCTG 0.478 NA HNSCC(64;0.19) G||| 3003 0.599641 0.6498 0.4986 5008 , , NA 17921 0.7688 NA 0.3608 False NA ,,, NA NA NA 2504 0.6748 NA NA NA NA 0 G ILE/THR 2673,1733 647.8+/-398.6 811,1051,341 100 94 96 4484 4.1 1 5 dbSNP_76 96 3326,5274 495.8+/-374.1 660,2006,1634 yes missense ADAMTS12 NM_030955.2 89 1471,3057,1975 AA,AG,GG 38.6744,39.3327,46.1249 benign 1495/1595 33535060 5999,7007 2203 4300 6503 SO:0001583 missense AJ250725 CCDS34140.1 5q35 2008-07-18 2005-08-19 ENSG00000151388 ENSG00000151388 81792 ADAM metallopeptidases with thrombospondin type 1 motif 14605 protein-coding gene gene with protein product 606184 a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12 NA 11279086 Standard NM_030955 NM_030955 NA Approved uc003jia.1 P58397 OTTHUMG00000162088 ENST00000504830.1:c.4484C>T chr5.hg19:g.33535060G>A ENSP00000422554:p.Thr1495Ile NA A2RRN9|A5D6V6|Q6UWL3 hg19 CCDS34140.1 0.02 1.710665 ACAxTCC COVERED 1186 0.543040293040293 305 0.6199186991869918 177 0.4889502762430939 440 0.7692307692307693 264 0.3482849604221636 G 12.69 2.013407 0.35511 0.606673 0.386744 ENSG00000151388 ENST00000504830;ENST00000352040 T;T 0.52754 0.65;0.65 4.98 4.1 0.47936 . 0.319926 0.32578 N 0.005912 T 0.00012 0.0000 M 0.76002 2.32 0.09310 P 0.999999999992923 B;B 0.25563 0.129;0.043 B;B 0.26202 0.067;0.043 T 0.42832 -0.9428 9 0.23302 T 0.38 . 8.6185 0.33847 0.1032:0.0:0.8968:0.0 rs25754;rs1697866;rs17566802;rs60616478;rs25754 1410;1495 P58397-3;P58397 .;ATS12_HUMAN I 1495;1410 ENSP00000422554:T1495I;ENSP00000344847:T1410I ENSP00000344847:T1410I T - 2 0 ADAMTS12 33570817 0.819000 0.29175 0.975000 0.42487 0.853000 0.48598 0.983000 0.29552 2.470000 0.83445 0.563000 0.77884 ACT NOVEL ADAMTS12-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000367164.2 0 5.11632 KEEP 0 0 0 17 600 GG 0.999366 0.999329 0 - 12 60 426 0 0 32.393225 88 60 3309 135 ENST00000504830.1 0.12 0.999962 ADAMTS12 81792 __UNKNOWN__ __UNKNOWN__ 5 33576602 33576602 __UNKNOWN__ Missense_Mutation SNP A A G rs3813474 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:33576602A>G ENST00000504830.1 - 19 3864 c.3529T>C c.(3529-3531)Tgg>Cgg p.W1177R ADAMTS12_ENST00000352040.3_Missense_Mutation_p.W1092R NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 1177 Spacer 2. NA W -> R (in dbSNP:rs3813474). cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727) extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578) metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270) NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 ATCTTGGTCCATATTACAGGA 0.473 NA HNSCC(64;0.19) A||| 257 0.0513179 0.003 0.0706 5008 , , NA 22201 0.0446 NA 0.1282 False NA ,,, NA NA NA 2504 0.0307 NA NA NA NA 0 A ARG/TRP 117,4289 87.8+/-126.4 2,113,2088 198 179 185 3529 2.8 0.2 5 dbSNP_107 185 887,7713 199.7+/-243.7 43,801,3456 yes missense ADAMTS12 NM_030955.2 101 45,914,5544 GG,GA,AA 10.314,2.6555,7.7195 benign 1177/1595 33576602 1004,12002 2203 4300 6503 SO:0001583 missense AJ250725 CCDS34140.1 5q35 2008-07-18 2005-08-19 ENSG00000151388 ENSG00000151388 81792 ADAM metallopeptidases with thrombospondin type 1 motif 14605 protein-coding gene gene with protein product 606184 a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12 NA 11279086 Standard NM_030955 NM_030955 NA Approved uc003jia.1 P58397 OTTHUMG00000162088 ENST00000504830.1:c.3529T>C chr5.hg19:g.33576602A>G ENSP00000422554:p.Trp1177Arg NA A2RRN9|A5D6V6|Q6UWL3 hg19 CCDS34140.1 0.02 8.527536 TCCxTAT COVERED 169 0.07738095238095238 3 0.006097560975609756 32 0.08839779005524862 31 0.05419580419580419 103 0.1358839050131926 A 0.013 -1.623965 0.00820 0.026555 0.10314 ENSG00000151388 ENST00000504830;ENST00000352040 T;T 0.58506 0.33;0.33 5.28 2.83 0.33086 . 0.596637 0.18452 N 0.140782 T 0.00328 0.0010 L 0.36672 1.1 0.29060 P 0.8839589999999999 B;B 0.12013 0.005;0.002 B;B 0.11329 0.006;0.003 T 0.06110 -1.0845 9 0.22706 T 0.39 . 3.9121 0.09207 0.6663:0.0:0.1695:0.1643 rs3813474;rs17567595;rs52822063;rs59098925;rs3813474 1092;1177 P58397-3;P58397 .;ATS12_HUMAN R 1177;1092 ENSP00000422554:W1177R;ENSP00000344847:W1092R ENSP00000344847:W1092R W - 1 0 ADAMTS12 33612359 0.962000 0.33011 0.200000 0.23457 0.053000 0.15095 2.322000 0.43814 0.428000 0.26173 0.533000 0.62120 TGG NOVEL ADAMTS12-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000367164.2 1 7.823828 KEEP 0 0 0 26 820 AA 0.999957 0.999957 0 - 8 60 296 0 0 18.713498 199 60 7402 271 ENST00000504830.1 0.038647 1 AMACR 23600 __UNKNOWN__ __UNKNOWN__ 5 33988128 33988128 __UNKNOWN__ 3'UTR SNP G G A rs16892064 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:33988128G>A ENST00000335606.6 - 0 2307 RP11-1084J3.4_ENST00000382079.3_3'UTR|AMACR_ENST00000382072.2_3'UTR NM_001167595.1|NM_014324.5 NP_001161067.1|NP_055139.4 Q9UHK6 AMACR_HUMAN alpha-methylacyl-CoA racemase NA NA bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777) alpha-methylacyl-CoA racemase activity (GO:0008111)|receptor binding (GO:0005102) endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1) 19 ttcctcttgcgattgttgaac 0.468 NA G||| 394 0.0786741 0.0976 0.0562 5008 , , NA 16481 0.1806 NA 0.005 False NA ,,, NA NA NA 2504 0.0399 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF047020 CCDS3902.1, CCDS3903.1, CCDS54836.1 5p13.2 2012-05-16 ENSG00000242110 ENSG00000242110 23600 5.1.99.4 451 protein-coding gene gene with protein product 604489 NA 9307041 Standard NM_014324 NM_014324 NA Approved RACE uc003jij.3 Q9UHK6 OTTHUMG00000090734 ENST00000335606.6:c.*1070C>T chr5.hg19:g.33988128G>A NA A5YM47|B8Y916|B8Y918|F8W9N1|O43673|Q3KT79|Q96GH1|Q9Y3Q1 hg19 CCDS3902.1 0.02 4.212121 TGCxATT COVERED NOVEL AMACR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207467.1 3 5.116271 KEEP 0 0 0 17 581 GG 0.999366 0.999366 0 - 6 60 228 0 0 14.834097 138 60 4912 191 ENST00000335606.6 0.041667 1 AMACR 23600 __UNKNOWN__ __UNKNOWN__ 5 33988216 33988216 __UNKNOWN__ 3'UTR SNP G G A rs16892066 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:33988216G>A ENST00000335606.6 - 0 2219 RP11-1084J3.4_ENST00000382079.3_3'UTR|AMACR_ENST00000382072.2_3'UTR|AMACR_ENST00000514195.1_5'UTR NM_001167595.1|NM_014324.5 NP_001161067.1|NP_055139.4 Q9UHK6 AMACR_HUMAN alpha-methylacyl-CoA racemase NA NA bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777) alpha-methylacyl-CoA racemase activity (GO:0008111)|receptor binding (GO:0005102) endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1) 19 ctactctgatggcacccggat 0.488 NA G||| 270 0.0539137 0.0053 0.0533 5008 , , NA 17874 0.1806 NA 0.005 False NA ,,, NA NA NA 2504 0.0399 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF047020 CCDS3902.1, CCDS3903.1, CCDS54836.1 5p13.2 2012-05-16 ENSG00000242110 ENSG00000242110 23600 5.1.99.4 451 protein-coding gene gene with protein product 604489 NA 9307041 Standard NM_014324 NM_014324 NA Approved RACE uc003jij.3 Q9UHK6 OTTHUMG00000090734 ENST00000335606.6:c.*982C>T chr5.hg19:g.33988216G>A NA A5YM47|B8Y916|B8Y918|F8W9N1|O43673|Q3KT79|Q96GH1|Q9Y3Q1 hg19 CCDS3902.1 0.02 6.780509 GATxGCA COVERED NOVEL AMACR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207467.1 2 3.310447 KEEP 0 0 0 11 376 GG 0.993072 0.993072 0 - 6 60 228 0 0 14.409741 163 60 5991 188 ENST00000335606.6 0.035503 1 RAI14 26064 __UNKNOWN__ __UNKNOWN__ 5 34807928 34807928 __UNKNOWN__ Silent SNP C C T rs6895634 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:34807928C>T ENST00000265109.3 + 6 632 c.345C>T c.(343-345)gtC>gtT p.V115V RAI14_ENST00000503673.1_Silent_p.V115V|RAI14_ENST00000512629.1_Silent_p.V115V|RAI14_ENST00000506376.1_Silent_p.V107V|RAI14_ENST00000428746.2_Silent_p.V115V|RAI14_ENST00000515799.1_Silent_p.V118V|RAI14_ENST00000507276.1_3'UTR|RAI14_ENST00000397449.1_Silent_p.V108V NM_001145522.1|NM_015577.2 NP_001138994.1|NP_056392.2 Q9P0K7 RAI14_HUMAN retinoic acid induced 14 115 NA actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(31;0.000191) CCGAAAGTGTCGACAGCTCTG 0.358 NA T||| 1952 0.389776 0.239 0.549 5008 , , NA 18310 0.3591 NA 0.4264 False NA ,,, NA NA NA 2504 0.4744 NA NA NA NA 0 T ,,,,, 1215,3191 707.8+/-407.5 169,877,1157 181 183 182 345,345,345,321,354,345 -0.7 0 5 dbSNP_116 182 3623,4977 624.4+/-397.6 764,2095,1441 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous RAI14 NM_001145520.1,NM_001145521.1,NM_001145522.1,NM_001145523.1,NM_001145525.1,NM_015577.2 ,,,,, 933,2972,2598 TT,TC,CC 42.1279,27.576,37.1982 ,,,,, 115/981,115/981,115/952,107/973,118/984,115/981 34807928 4838,8168 2203 4300 6503 SO:0001819 synonymous_variant AB037755 CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1 5p13.3-p13.2 2013-01-10 ENSG00000039560 ENSG00000039560 26064 Ankyrin repeat domain containing 14873 protein-coding gene gene with protein product novel retinal pigment epithelial 606586 NA 11042181 Standard NM_015577 NM_015577 NA Approved NORPEG, KIAA1334, RAI13, DKFZp564G013 uc011coj.2 Q9P0K7 OTTHUMG00000162019 ENST00000265109.3:c.345C>T chr5.hg19:g.34807928C>T NA E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5 hg19 CCDS34142.1 0.02 31.933273 TGTxGAC COVERED NOVEL RAI14-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000366786.1 2 21.502407 KEEP 0 1 30 82 2758 CC 1 1 0 + 21 60 772 0 0 45.63371 730 60 26889 989 ENST00000265109.3 0.027963 1 RAI14 26064 __UNKNOWN__ __UNKNOWN__ 5 34831252 34831252 __UNKNOWN__ 3'UTR SNP G G A rs3184744 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:34831252G>A ENST00000265109.3 + 0 3612 RAI14_ENST00000428746.2_3'UTR|RAI14_ENST00000397449.1_3'UTR NM_001145522.1|NM_015577.2 NP_001138994.1|NP_056392.2 Q9P0K7 RAI14_HUMAN retinoic acid induced 14 NA NA actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(31;0.000191) TCCTGTACTCGGGCAGTGCCA 0.483 NA G||| 1576 0.314696 0.0787 0.4726 5008 , , NA 19819 0.3542 NA 0.325 False NA ,,, NA NA NA 2504 0.4703 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB037755 CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1 5p13.3-p13.2 2013-01-10 ENSG00000039560 ENSG00000039560 26064 Ankyrin repeat domain containing 14873 protein-coding gene gene with protein product novel retinal pigment epithelial 606586 NA 11042181 Standard NM_015577 NM_015577 NA Approved NORPEG, KIAA1334, RAI13, DKFZp564G013 uc011coj.2 Q9P0K7 OTTHUMG00000162019 ENST00000265109.3:c.*382G>A chr5.hg19:g.34831252G>A NA E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5 hg19 CCDS34142.1 0.02 8.873822 CTCxGGC COVERED NOVEL RAI14-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000366786.1 1 14.279206 KEEP 54 1 33 59 1994 GG 1 1 0 + 8 40 300 0 0 18.995509 206 60 7164 380 ENST00000265109.3 0.037383 1 RAI14 26064 __UNKNOWN__ __UNKNOWN__ 5 34832058 34832058 __UNKNOWN__ 3'UTR SNP T T C rs3817264 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:34832058T>C ENST00000265109.3 + 0 4418 RAI14_ENST00000428746.2_3'UTR|RAI14_ENST00000397449.1_3'UTR NM_001145522.1|NM_015577.2 NP_001138994.1|NP_056392.2 Q9P0K7 RAI14_HUMAN retinoic acid induced 14 NA NA actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(31;0.000191) TTAGTACCAATCTGTTTTTCA 0.378 NA T||| 2156 0.430511 0.3533 0.5677 5008 , , NA 17777 0.3958 NA 0.4215 False NA ,,, NA NA NA 2504 0.4826 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB037755 CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1 5p13.3-p13.2 2013-01-10 ENSG00000039560 ENSG00000039560 26064 Ankyrin repeat domain containing 14873 protein-coding gene gene with protein product novel retinal pigment epithelial 606586 NA 11042181 Standard NM_015577 NM_015577 NA Approved NORPEG, KIAA1334, RAI13, DKFZp564G013 uc011coj.2 Q9P0K7 OTTHUMG00000162019 ENST00000265109.3:c.*1188T>C chr5.hg19:g.34832058T>C NA E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5 hg19 CCDS34142.1 0.02 6.815605 CAAxCTG COVERED NOVEL RAI14-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000366786.1 2 13.539501 KEEP 0 0 0 45 1422 TT 1 1 0 + 11 60 400 0 0 27.702686 154 60 5552 254 ENST00000265109.3 0.066667 1 DNAJC21 134218 __UNKNOWN__ __UNKNOWN__ 5 34945944 34945944 __UNKNOWN__ Intron SNP A A T rs37442 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:34945944A>T ENST00000342382.4 + 9 1412 DNAJC21_ENST00000382021.2_Intron|DNAJC21_ENST00000303525.7_Intron|DNAJC21_ENST00000512136.1_Intron Q5F1R6 DJC21_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 21 NA NA protein folding (GO:0006457) ribosome (GO:0005840) poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270) breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1) 21 all_lung(31;7.08e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) TTAAATGCCAACGATAAAGTT 0.303 NA A||| 1174 0.234425 0.0393 0.2839 5008 , , NA 16166 0.3244 NA 0.2555 False NA ,,, NA NA NA 2504 0.3487 NA NA NA NA 0 A , 347,4055 174.8+/-204.3 19,309,1873 103 115 111 , -9.4 0 5 dbSNP_76 111 2305,6291 384.4+/-341.1 293,1719,2286 no intron,intron DNAJC21 NM_001012339.2,NM_194283.3 , 312,2028,4159 TT,TA,AA 26.8148,7.8828,20.4031 , , 34945944 2652,10346 2201 4298 6499 SO:0001627 intron_variant CCDS3907.2, CCDS34144.1 5p13-p12 2012-10-05 ENSG00000168724 ENSG00000168724 134218 Heat shock proteins / DNAJ (HSP40) 27030 protein-coding gene gene with protein product JJJ1 DnaJ domain protein homolog (S. cerevisiae) NA 15067379 Standard NM_194283 XM_005248250 NA Approved GS3, DNAJA5, JJJ1 uc003jjc.3 Q5F1R6 OTTHUMG00000074103 ENST00000342382.4:c.1185+36A>T chr5.hg19:g.34945944A>T NA Q3B7J9|Q6P086|Q6ZS43|Q86VC6 hg19 CCDS34144.1 0.02 2.103285 CCAxCGA COVERED NOVEL DNAJC21-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000157337.1 1 8.424435 KEEP 0 0 0 28 866 AA 0.999997 0.99899 0 + 4 60 152 0 0 10.258253 74 60 2693 130 ENST00000342382.4 0.051282 0.998993 AGXT2 64902 __UNKNOWN__ __UNKNOWN__ 5 34998877 34998877 __UNKNOWN__ Missense_Mutation SNP C C A rs16899974 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:34998877C>A ENST00000231420.6 - 14 1692 c.1492G>T c.(1492-1494)Gta>Tta p.V498L NM_031900.3 NP_114106.1 Q9BYV1 AGT2_HUMAN alanine--glyoxylate aminotransferase 2 498 NA V -> L (in dbSNP:rs16899974). {ECO:0000269|Ref.3}. cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process, by transamination (GO:0019481)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281) mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739) (R)-3-amino-2-methylpropionate-pyruvate transaminase activity (GO:0047305)|alanine-glyoxylate transaminase activity (GO:0008453)|beta-alanine-pyruvate transaminase activity (GO:0016223)|pyridoxal phosphate binding (GO:0030170) NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 41 all_lung(31;4.52e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) GBM - Glioblastoma multiforme(108;0.181) Glycine(DB00145)|L-Alanine(DB00160)|Pyruvic acid(DB00119) AATACTTCTACTGCAAAATCA 0.373 NA C||| 1180 0.235623 0.0461 0.2608 5008 , , NA 21622 0.4216 NA 0.2266 False NA ,,, NA NA NA 2504 0.2914 NA NA NA NA 0 C LEU/VAL 333,4073 175.1+/-204.6 9,315,1879 203 182 189 1492 3.8 1 5 dbSNP_123 189 1972,6628 346.5+/-326.2 219,1534,2547 yes missense AGXT2 NM_031900.3 32 228,1849,4426 AA,AC,CC 22.9302,7.5579,17.7226 benign 498/515 34998877 2305,10701 2203 4300 6503 SO:0001583 missense AJ292204 CCDS3908.1 5p13 2010-05-07 2010-05-07 ENSG00000113492 ENSG00000113492 64902 2.6.1.44 14412 protein-coding gene gene with protein product beta-alanine-pyruvate aminotransferase, beta-ALAAT II 612471 alanine-glyoxylate aminotransferase 2 NA 15240345 Standard NM_031900 NM_031900 NA Approved AGT2 uc003jjf.3 Q9BYV1 OTTHUMG00000090788 ENST00000231420.6:c.1492G>T chr5.hg19:g.34998877C>A ENSP00000231420:p.Val498Leu NA B7ZM47|E9PDL7|Q53FB4|Q53FY7|Q53G03|Q5W7Q1 hg19 CCDS3908.1 0.02 13.237005 CTAxTGC COVERED 519 0.23763736263736263 20 0.04065040650406504 93 0.2569060773480663 240 0.4195804195804196 166 0.21899736147757257 C 9.105 1.005038 0.19199 0.075579 0.229302 ENSG00000113492 ENST00000231420 T 0.17691 2.26 5.69 3.85 0.44370 Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1); 0.481828 0.23060 N 0.052393 T 0.00012 0.0000 L 0.43152 1.355 0.42398 P 0.007441000000000031 B;B 0.23591 0.088;0.002 B;B 0.22753 0.041;0.006 T 0.46816 -0.9164 9 0.16420 T 0.52 -17.7656 10.6159 0.45449 0.1359:0.7889:0.0:0.0753 rs16899974;rs52832203;rs60642487;rs16899974 423;498 E9PDL7;Q9BYV1 .;AGT2_HUMAN L 498 ENSP00000231420:V498L ENSP00000231420:V498L V - 1 0 AGXT2 35034634 0.992000 0.36948 0.981000 0.43875 0.050000 0.14768 1.044000 0.30329 0.313000 0.23062 -0.813000 0.03139 GTA NOVEL AGXT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207574.2 1 9.931847 KEEP 0 0 0 33 1169 CC 0.999998 0.999998 0 - 14 60 503 0 0 32.061452 304 70 11699 418 ENST00000231420.6 0.044025 1 SPEF2 79925 __UNKNOWN__ __UNKNOWN__ 5 35670303 35670303 __UNKNOWN__ Missense_Mutation SNP G G A rs34708521 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:35670303G>A ENST00000440995.2 + 10 1498 c.1498G>A c.(1498-1500)Gat>Aat p.D500N SPEF2_ENST00000282469.6_Missense_Mutation_p.D500N|SPEF2_ENST00000356031.3_Missense_Mutation_p.D500N|SPEF2_ENST00000509059.1_Missense_Mutation_p.D500N Q9C093 SPEF2_HUMAN sperm flagellar 2 500 NA D -> N (in dbSNP:rs34708521). {ECO:0000269|PubMed:15489334}. axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283) Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GGACTTGCTAGATACCAATGA 0.318 NA G||| 812 0.162141 0.1271 0.1499 5008 , , NA 15923 0.3542 NA 0.0606 False NA ,,, NA NA NA 2504 0.1247 NA NA NA NA 0 G ASN/ASP,ASN/ASP 438,3968 207.2+/-228.6 15,408,1780 96 100 99 1498,1498 5.1 1 5 dbSNP_126 99 454,8146 136.4+/-193.5 17,420,3863 yes missense,missense SPEF2 NM_024867.3,NM_144722.3 23,23 32,828,5643 AA,AG,GG 5.2791,9.941,6.8584 probably-damaging,probably-damaging 500/1823,500/515 35670303 892,12114 2203 4300 6503 SO:0001583 missense AB051557 CCDS3910.1, CCDS43309.1 5p13.2 2010-05-04 ENSG00000152582 ENSG00000152582 79925 26293 protein-coding gene gene with protein product cancer/testis antigen 122 610172 NA 11214970, 16549801, 17610085 Standard NM_144722 NM_024867 NA Approved KPL2, FLJ23577, CT122 uc003jjo.3 Q9C093 OTTHUMG00000131111 ENST00000440995.2:c.1498G>A chr5.hg19:g.35670303G>A ENSP00000412125:p.Asp500Asn NA Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7 hg19 0.02 19.404741 CTAxATA COVERED 334 0.15293040293040294 66 0.13414634146341464 36 0.09944751381215469 185 0.32342657342657344 47 0.06200527704485488 G 21.5 4.158077 0.78114 0.09941 0.052791 ENSG00000152582 ENST00000282469;ENST00000356031;ENST00000509059;ENST00000440995 T;T;T;T 0.17213 2.29;3.33;2.29;3.33 5.1 5.1 0.69264 . 0.110266 0.64402 D 0.000013 T 0.00012 0.0000 L 0.39633 1.23 0.09310 P 1.0 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.87578 0.996;0.996;0.998 T 0.38090 -0.9677 9 0.40728 T 0.16 . 18.8644 0.92285 0.0:0.0:1.0:0.0 rs34708521;rs62354368 500;500;500 D6REZ4;Q9C093;Q9C093-3 .;SPEF2_HUMAN;. N 500 ENSP00000282469:D500N;ENSP00000348314:D500N;ENSP00000421593:D500N;ENSP00000412125:D500N ENSP00000282469:D500N D + 1 0 SPEF2 35706060 1.000000 0.71417 0.994000 0.49952 0.992000 0.81027 6.043000 0.71004 2.515000 0.84797 0.655000 0.94253 GAT NOVEL SPEF2-006 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000367203.1 0 18.359731 KEEP 0 0 0 61 2165 GG 1 1 0 + 23 60 840 0 0 54.477894 477 60 18177 688 ENST00000440995.2 0.046 1 SPEF2 79925 __UNKNOWN__ __UNKNOWN__ 5 35692775 35692775 __UNKNOWN__ Missense_Mutation SNP T T A rs7710284 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:35692775T>A ENST00000440995.2 + 12 1848 c.1848T>A c.(1846-1848)aaT>aaA p.N616K SPEF2_ENST00000356031.3_Missense_Mutation_p.N616K|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000509059.1_Missense_Mutation_p.N616K Q9C093 SPEF2_HUMAN sperm flagellar 2 616 NA N -> K (in dbSNP:rs7710284). axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283) Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TTCAGAAAAATGATGAAGAAG 0.378 NA A||| 1788 0.357029 0.6195 0.2622 5008 , , NA 15916 0.4067 NA 0.1312 False NA ,,, NA NA NA 2504 0.2505 NA NA NA NA 0 A LYS/ASN 2023,1663 556,911,376 97 99 98 1848 -3.6 0 5 dbSNP_116 98 1069,7103 64,941,3081 yes missense SPEF2 NM_024867.3 94 620,1852,3457 AA,AT,TT 13.0813,45.1167,26.0752 benign 616/1823 35692775 3092,8766 1843 4086 5929 SO:0001583 missense AB051557 CCDS3910.1, CCDS43309.1 5p13.2 2010-05-04 ENSG00000152582 ENSG00000152582 79925 26293 protein-coding gene gene with protein product cancer/testis antigen 122 610172 NA 11214970, 16549801, 17610085 Standard NM_144722 NM_024867 NA Approved KPL2, FLJ23577, CT122 uc003jjo.3 Q9C093 OTTHUMG00000131111 ENST00000440995.2:c.1848T>A chr5.hg19:g.35692775T>A ENSP00000412125:p.Asn616Lys NA Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7 hg19 0.02 7.592538 AAAxGAT COVERED 734 0.3360805860805861 315 0.6402439024390244 79 0.21823204419889503 231 0.40384615384615385 109 0.1437994722955145 A 3.896 -0.023008 0.07634 0.548833 0.130813 ENSG00000152582 ENST00000356031;ENST00000509059;ENST00000440995;ENST00000504054 T;T;T;T 0.28454 3.43;3.3;3.37;1.61 5.59 -3.6 0.04570 . 0.995051 0.08146 N 0.990813 T 0.00012 0.0000 N 0.08118 0 0.80722 P 0.0 B;B;B 0.02656 0.0;0.0;0.0 B;B;B 0.01281 0.0;0.0;0.0 T 0.43048 -0.9415 9 0.15499 T 0.54 . 4.3977 0.11370 0.2594:0.0:0.2409:0.4998 rs7710284;rs17734895;rs56484158;rs7710284 616;616;616 D6REZ4;Q9C093-2;Q9C093 .;.;SPEF2_HUMAN K 616;616;616;127 ENSP00000348314:N616K;ENSP00000421593:N616K;ENSP00000412125:N616K;ENSP00000421744:N127K ENSP00000348314:N616K N + 3 2 SPEF2 35728532 0.000000 0.05858 0.000000 0.03702 0.003000 0.03518 -0.388000 0.07352 -1.373000 0.02134 -1.539000 0.00912 AAT NOVEL SPEF2-006 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000367203.1 2 13.539344 KEEP 0 0 0 45 1395 TT 1 1 0 + 7 60 249 0 0 14.572634 228 60 8386 335 ENST00000440995.2 0.029787 1 SPEF2 79925 __UNKNOWN__ __UNKNOWN__ 5 35807455 35807455 __UNKNOWN__ Intron SNP T T G rs7736291 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:35807455T>G ENST00000440995.2 + 36 5364 SPEF2_ENST00000356031.3_Intron|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000303129.4_Intron Q9C093 SPEF2_HUMAN sperm flagellar 2 NA NA axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283) Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AAAGAAGCTGTACTCTGCCAG 0.493 NA G||| 2516 0.502396 0.8775 0.4179 5008 , , NA 18624 0.3056 NA 0.4264 False NA ,,, NA NA NA 2504 0.3364 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB051557 CCDS3910.1, CCDS43309.1 5p13.2 2010-05-04 ENSG00000152582 ENSG00000152582 79925 26293 protein-coding gene gene with protein product cancer/testis antigen 122 610172 NA 11214970, 16549801, 17610085 Standard NM_144722 NM_024867 NA Approved KPL2, FLJ23577, CT122 uc003jjo.3 Q9C093 OTTHUMG00000131111 ENST00000440995.2:c.5364+100T>G chr5.hg19:g.35807455T>G NA Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7 hg19 0.02 9.107208 CTGxACT COVERED NOVEL SPEF2-006 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000367203.1 1 8.726117 KEEP 0 0 0 29 896 TT 0.999997 0.999997 0 + 7 60 270 0 0 16.696272 226 60 7853 309 ENST00000440995.2 0.030043 1 IL7R 3575 __UNKNOWN__ __UNKNOWN__ 5 35877826 35877826 __UNKNOWN__ 3'UTR SNP A A T rs9292617 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:35877826A>T ENST00000303115.3 + 0 2747 NM_002185.3 NP_002176.2 P16871 IL7RA_HUMAN interleukin 7 receptor NA NA B cell proliferation (GO:0042100)|cell growth (GO:0016049)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|immune response (GO:0006955)|immunoglobulin production (GO:0002377)|interleukin-7-mediated signaling pathway (GO:0038111)|lymph node development (GO:0048535)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of gene expression (GO:0010628)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of cell size (GO:0008361)|regulation of DNA recombination (GO:0000018)|signal transduction (GO:0007165)|T cell differentiation (GO:0030217) external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) antigen binding (GO:0003823)|interleukin-7 receptor activity (GO:0004917) NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3) 126 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) TGTGGCTACAATCTTGAAGAT 0.398 NA Mis, O ALL, ETP ALL Severe combined immune deficiency T||| 3354 0.669728 0.9395 0.5648 5008 , , NA 22568 0.4812 NA 0.7038 False NA ,,, NA NA NA 2504 0.5389 NA NA NA Dom yes 5 5p13 146661 interleukin 7 receptor yes L 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M29696 CCDS3911.1 5p13 2014-09-17 ENSG00000168685 ENSG00000168685 3575 Interleukins and interleukin receptors, CD molecules, Fibronectin type III domain containing 6024 protein-coding gene gene with protein product 146661 NA 2317865 Standard NM_002185 NA Approved CD127 uc003jjs.4 P16871 OTTHUMG00000090791 ENST00000303115.3:c.*1238A>T chr5.hg19:g.35877826A>T NA B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1 hg19 CCDS3911.1 0.02 10.026376 ACAxTCT COVERED NOVEL IL7R-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207577.2 3 5.048504 KEEP 0 1 32 28 872 AA 0.999997 0.999997 0 + 11 60 402 0 0 25.008202 287 60 10441 359 ENST00000303115.3 0.036913 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 5 36349859 36349859 __UNKNOWN__ IGR SNP G G A rs377441238 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:36349859G>A NA NA RANBP3L (47855 upstream) : RNA5SP181 (135585 downstream) NA NA NA gggattacaggtgtgagccac 0.517 NA G||| 41 0.0081869 0.0 0.0 5008 , , NA 14906 0.0 NA 0.004 False NA ,,, NA NA NA 2504 0.0378 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr5.hg19:g.36349859G>A NA hg19 0.02 -0.043867 CAGxTGT UNCOVERED NOVEL 0 2 3.310835 KEEP 0 0 0 11 393 GG 0.993072 0.023907 0 2 60 74 0 0 6.892768 3 60 117 23 0.4 0.024074 SLC1A3 6507 __UNKNOWN__ __UNKNOWN__ 5 36686404 36686404 __UNKNOWN__ 3'UTR SNP G G A rs2229894 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:36686404G>A ENST00000265113.4 + 0 2138 SLC1A3_ENST00000381918.3_3'UTR|CTD-2353F22.1_ENST00000510740.1_RNA NM_004172.4 NP_004163.3 P43003 EAA1_HUMAN solute carrier family 1 (glial high affinity glutamate transporter), member 3 NA NA auditory behavior (GO:0031223)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cranial nerve development (GO:0021545)|D-aspartate import (GO:0070779)|gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate biosynthetic process (GO:0006537)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter uptake (GO:0001504)|positive regulation of synaptic transmission (GO:0050806)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085) cell projection (GO:0042995)|cell surface (GO:0009986)|fibril (GO:0043205)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886) glutamate binding (GO:0016595)|high-affinity glutamate transmembrane transporter activity (GO:0005314)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1) 41 all_lung(31;0.000245) Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TTGAGCACCAGGTGTTAAAAA 0.403 NA NA NA NA NA NA NA NA NA NA NA 0 G , 471,3935 215.1+/-234.2 28,415,1760 57 58 58 , 3.1 1 5 dbSNP_98 58 2586,6014 398.7+/-346.2 402,1782,2116 no utr-3,utr-3 SLC1A3 NM_001166695.1,NM_004172.4 , 430,2197,3876 AA,AG,GG 30.0698,10.69,23.5045 , , 36686404 3057,9949 2203 4300 6503 SO:0001624 3_prime_UTR_variant CCDS3919.1, CCDS54844.1 5p13 2013-05-22 ENSG00000079215 ENSG00000079215 6507 Solute carriers 10941 protein-coding gene gene with protein product glutamate transporter variant EAAT1ex9skip 600111 NA 7521911, 7698014 Standard NM_004172 NM_004172 NA Approved EAAT1, GLAST, EA6 uc003jkj.4 P43003 OTTHUMG00000090793 ENST00000265113.4:c.*33G>A chr5.hg19:g.36686404G>A NA B2R5T3|Q4JCQ8 hg19 CCDS3919.1 0.02 34.423519 CCAxGTG COVERED NOVEL SLC1A3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207579.2 5 37.920102 KEEP 0 0 0 126 4466 GG 1 1 0 + 25 60 943 0 0 57.977205 772 60 29318 1109 ENST00000265113.4 0.031368 1 GDNF 2668 __UNKNOWN__ __UNKNOWN__ 5 37814148 37814148 __UNKNOWN__ 3'UTR SNP A A G rs3749692 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:37814148A>G ENST00000326524.2 - 0 2440 GDNF_ENST00000344622.4_3'UTR NM_000514.3 NP_000505.1 P39905 GDNF_HUMAN glial cell derived neurotrophic factor NA NA adult locomotory behavior (GO:0008344)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|enteric nervous system development (GO:0048484)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|metanephros development (GO:0001656)|mRNA stabilization (GO:0048255)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neuron projection development (GO:0031175)|organ induction (GO:0001759)|peristalsis (GO:0030432)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|postganglionic parasympathetic nervous system development (GO:0021784)|postsynaptic membrane organization (GO:0001941)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of morphogenesis of a branching structure (GO:0060688)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|ureteric bud formation (GO:0060676) extracellular region (GO:0005576) protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102) NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2) 15 all_lung(31;0.00118) GGGGTTGTACAGGACCTGGTA 0.627 NA A||| 2704 0.539936 0.3941 0.647 5008 , , NA 16228 0.6349 NA 0.5358 False NA ,,, NA NA NA 2504 0.5675 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS3922.1, CCDS3923.1, CCDS54845.1, CCDS54846.1, CCDS75237.1 5p13.1-p12 2014-01-30 ENSG00000168621 ENSG00000168621 2668 Endogenous ligands 4232 protein-coding gene gene with protein product astrocyte-derived trophic factor, glial cell line derived neurotrophic factor, glial derived neurotrophic factor 600837 NA 8493557 Standard NM_000514 NM_199231 NA Approved ATF1, ATF2, HFB1-GDNF uc011cpg.2 P39905 OTTHUMG00000090809 ENST00000326524.2:c.*1605T>C chr5.hg19:g.37814148A>G NA B7WPK7|O95448|O95449|O95986|Q6FH33|Q96L44|Q9UD32|Q9UD33|Q9UMV2|Q9UP67|Q9UP97 hg19 CCDS3922.1 0.02 9.0857 TACxGGA COVERED NOVEL GDNF-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207606.1 1 10.231563 KEEP 0 0 0 34 1090 AA 0.999998 0.999998 0 - 14 60 501 0 0 34.073124 209 60 7805 320 ENST00000326524.2 0.06278 1 OSMR 9180 __UNKNOWN__ __UNKNOWN__ 5 38919194 38919194 __UNKNOWN__ Intron SNP T T G rs2278327 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:38919194T>G ENST00000274276.3 + 11 1987 NM_003999.2 NP_003990.1 Q99650 OSMR_HUMAN oncostatin M receptor NA NA cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097) oncostatin-M receptor complex (GO:0005900) growth factor binding (GO:0019838)|oncostatin-M receptor activity (GO:0004924) NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 46 all_lung(31;0.000365) CTTTTGTTTTTATTCTCTAGG 0.358 NA T||| 216 0.043131 0.0008 0.0 5008 , , NA 20571 0.2063 NA 0.0 False NA ,,, NA NA NA 2504 0.0072 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U60805 CCDS3928.1, CCDS54847.1 5p13.2 2013-02-11 ENSG00000145623 ENSG00000145623 9180 Fibronectin type III domain containing 8507 protein-coding gene gene with protein product 601743 NA 8999038 Standard NM_003999 NM_001168355 NA Approved OSMRB uc003jln.2 Q99650 OTTHUMG00000090811 ENST00000274276.3:c.1585+30T>G chr5.hg19:g.38919194T>G NA Q6P4E8|Q96QJ6 hg19 CCDS3928.1 0.02 19.476832 TTTxATT COVERED NOVEL OSMR-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000207609.2 2 16.243582 KEEP 0 0 0 54 1636 TT 1 1 0 + 13 60 481 0 0 28.508426 456 60 16355 583 ENST00000274276.3 0.027719 1 OSMR 9180 __UNKNOWN__ __UNKNOWN__ 5 38919292 38919292 __UNKNOWN__ Intron SNP A A G rs2278328 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:38919292A>G ENST00000274276.3 + 11 1987 NM_003999.2 NP_003990.1 Q99650 OSMR_HUMAN oncostatin M receptor NA NA cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097) oncostatin-M receptor complex (GO:0005900) growth factor binding (GO:0019838)|oncostatin-M receptor activity (GO:0004924) NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 46 all_lung(31;0.000365) CTAAACAGTCATTTTCTTTTG 0.413 NA A||| 218 0.0435304 0.0008 0.0 5008 , , NA 20245 0.2073 NA 0.0 False NA ,,, NA NA NA 2504 0.0082 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U60805 CCDS3928.1, CCDS54847.1 5p13.2 2013-02-11 ENSG00000145623 ENSG00000145623 9180 Fibronectin type III domain containing 8507 protein-coding gene gene with protein product 601743 NA 8999038 Standard NM_003999 NM_001168355 NA Approved OSMRB uc003jln.2 Q99650 OTTHUMG00000090811 ENST00000274276.3:c.1585+128A>G chr5.hg19:g.38919292A>G NA Q6P4E8|Q96QJ6 hg19 CCDS3928.1 0.02 15.509424 GTCxTTT COVERED NOVEL OSMR-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000207609.2 1 16.549391 KEEP 0 0 0 55 1728 AA 1 1 0 + 16 60 558 0 0 35.152637 338 60 12474 492 ENST00000274276.3 0.045198 1 OSMR 9180 __UNKNOWN__ __UNKNOWN__ 5 38925457 38925457 __UNKNOWN__ Silent SNP G G A rs2289926 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:38925457G>A ENST00000274276.3 + 15 2598 c.2196G>A c.(2194-2196)acG>acA p.T732T NM_003999.2 NP_003990.1 Q99650 OSMR_HUMAN oncostatin M receptor 732 Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}. NA cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097) oncostatin-M receptor complex (GO:0005900) growth factor binding (GO:0019838)|oncostatin-M receptor activity (GO:0004924) NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 46 all_lung(31;0.000365) CGAAGGTCACGACTCCGGATG 0.438 NA G||| 80 0.0159744 0.0008 0.0014 5008 , , NA 16780 0.0724 NA 0.0 False NA ,,, NA NA NA 2504 0.0051 NA NA NA NA 0 G 2,4404 4.2+/-10.8 0,2,2201 109 100 103 2196 -11.5 0 5 dbSNP_100 103 0,8600 0,0,4300 no coding-synonymous OSMR NM_003999.2 0,2,6501 AA,AG,GG 0.0,0.0454,0.0154 732/980 38925457 2,13004 2203 4300 6503 SO:0001819 synonymous_variant U60805 CCDS3928.1, CCDS54847.1 5p13.2 2013-02-11 ENSG00000145623 ENSG00000145623 9180 Fibronectin type III domain containing 8507 protein-coding gene gene with protein product 601743 NA 8999038 Standard NM_003999 NM_001168355 NA Approved OSMRB uc003jln.2 Q99650 OTTHUMG00000090811 ENST00000274276.3:c.2196G>A chr5.hg19:g.38925457G>A NA Q6P4E8|Q96QJ6 hg19 CCDS3928.1 0.02 9.932464 CACxACT COVERED NOVEL OSMR-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000207609.2 2 27.687331 KEEP 0 0 0 92 3103 GG 1 1 0 + 9 60 326 0 0 19.538107 277 60 9994 451 ENST00000274276.3 0.031469 1 OSMR 9180 __UNKNOWN__ __UNKNOWN__ 5 38932466 38932466 __UNKNOWN__ Intron SNP A A C rs357278 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:38932466A>C ENST00000274276.3 + 17 2696 NM_003999.2 NP_003990.1 Q99650 OSMR_HUMAN oncostatin M receptor NA NA cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097) oncostatin-M receptor complex (GO:0005900) growth factor binding (GO:0019838)|oncostatin-M receptor activity (GO:0004924) NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 46 all_lung(31;0.000365) ataagttacaacgcaaggatt 0.358 NA A||| 2078 0.414936 0.357 0.3948 5008 , , NA 17862 0.4603 NA 0.4443 False NA ,,, NA NA NA 2504 0.4305 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U60805 CCDS3928.1, CCDS54847.1 5p13.2 2013-02-11 ENSG00000145623 ENSG00000145623 9180 Fibronectin type III domain containing 8507 protein-coding gene gene with protein product 601743 NA 8999038 Standard NM_003999 NM_001168355 NA Approved OSMRB uc003jln.2 Q99650 OTTHUMG00000090811 ENST00000274276.3:c.2295-99A>C chr5.hg19:g.38932466A>C NA Q6P4E8|Q96QJ6 hg19 CCDS3928.1 0.02 4.07416 ACAxCGC COVERED NOVEL OSMR-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000207609.2 0 6.31923 KEEP 0 0 0 21 686 AA 0.999869 0.999869 0 + 8 60 274 0 0 18.109509 129 60 4569 176 ENST00000274276.3 0.058394 1 RICTOR 253260 __UNKNOWN__ __UNKNOWN__ 5 38938664 38938664 __UNKNOWN__ 3'UTR SNP A A G rs10941413 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:38938664A>G ENST00000357387.3 - 0 8899 NM_152756.3 NP_689969.2 RPTOR independent companion of MTOR, complex 2 NA NA NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5) 75 all_lung(31;0.000396) TGGTGCAGCTATCCGATACTT 0.303 NA A||| 433 0.0864617 0.0159 0.0173 5008 , , NA 16362 0.248 NA 0.0427 False NA ,,, NA NA NA 2504 0.1094 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS34148.1, CCDS68861.1 5p13.1 2009-07-09 ENSG00000164327 ENSG00000164327 253260 28611 protein-coding gene gene with protein product rapamycin-insensitive companion of mTOR, pianissimo 609022 NA 12477932 Standard NM_152756 XM_005248278 NA Approved MGC39830, AVO3, PIA, KIAA1999 uc003jlp.2 Q6R327 OTTHUMG00000162037 ENST00000357387.3:c.*3742T>C chr5.hg19:g.38938664A>G NA hg19 CCDS34148.1 0.02 4.401885 GCTxTCC COVERED NOVEL RICTOR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000366985.1 1 7.219469 KEEP 0 0 0 24 730 AA 0.999909 0.999903 0 - 6 60 228 0 0 15.528318 105 60 3700 159 ENST00000357387.3 0.054054 0.999994 RICTOR 253260 __UNKNOWN__ __UNKNOWN__ 5 39074296 39074296 __UNKNOWN__ Intron SNP G G C rs2303808 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:39074296G>C ENST00000357387.3 - 2 80 RICTOR_ENST00000296782.5_Intron NM_152756.3 NP_689969.2 RPTOR independent companion of MTOR, complex 2 NA NA NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5) 75 all_lung(31;0.000396) AATTAGGATTGGCTCGCAGGC 0.716 NA C||| 2137 0.426717 0.3797 0.3847 5008 , , NA 7031 0.4702 NA 0.4592 False NA ,,, NA NA NA 2504 0.4417 NA NA NA NA 0 C 1697,2707 337,1023,842 23 26 25 2.9 1 5 dbSNP_100 25 3740,4854 821,2098,1378 no intron RICTOR NM_152756.3 1158,3121,2220 CC,CG,GG 43.5187,38.5332,41.8295 39074296 5437,7561 2202 4297 6499 SO:0001627 intron_variant CCDS34148.1, CCDS68861.1 5p13.1 2009-07-09 ENSG00000164327 ENSG00000164327 253260 28611 protein-coding gene gene with protein product rapamycin-insensitive companion of mTOR, pianissimo 609022 NA 12477932 Standard NM_152756 XM_005248278 NA Approved MGC39830, AVO3, PIA, KIAA1999 uc003jlp.2 Q6R327 OTTHUMG00000162037 ENST00000357387.3:c.50-36C>G chr5.hg19:g.39074296G>C NA hg19 CCDS34148.1 0.02 13.243364 ATTxGCT COVERED NOVEL RICTOR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000366985.1 0 76.42889 KEEP 0 3 103 290 10165 GG 1 1 0 - 10 60 377 0 0 23.394435 293 60 10925 785 ENST00000357387.3 0.033003 1 FYB 2533 __UNKNOWN__ __UNKNOWN__ 5 39107227 39107227 __UNKNOWN__ 3'UTR SNP T T C rs3805577 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:39107227T>C ENST00000351578.6 - 0 2860 AC008964.1_ENST00000593965.1_3'UTR NM_199335.3 NP_955367.1 O15117 FYB_HUMAN FYN binding protein NA NA immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852) actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634) receptor binding (GO:0005102) endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1) 45 all_lung(31;0.000343) Epithelial(62;0.235) CTTTTATTTTTATTTTTTGAA 0.269 NA T||| 122 0.024361 0.0 0.0014 5008 , , NA 15057 0.1121 NA 0.003 False NA ,,, NA NA NA 2504 0.0051 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U93049 CCDS47200.1, CCDS54848.1 5p13.1 2012-05-04 2010-05-04 ENSG00000082074 ENSG00000082074 2533 4036 protein-coding gene gene with protein product 602731 FYN-binding protein (FYB-120/130) NA 9115214, 9207119 Standard NM_001465 NM_001465 NA Approved SLAP-130, FYB-120/130 uc011cpl.2 O15117 OTTHUMG00000162071 ENST00000351578.6:c.*318A>G chr5.hg19:g.39107227T>C NA A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9 hg19 CCDS47200.1 0.02 2.262622 TTTxATT COVERED NOVEL FYB-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000367098.1 0 4.513743 KEEP 0 0 0 15 472 TT 0.99649 0.996398 0 - 4 60 163 0 0 11.025989 90 60 3207 125 ENST00000351578.6 0.042553 0.999907 RPL37 6167 __UNKNOWN__ __UNKNOWN__ 5 40831808 40831808 __UNKNOWN__ 3'UTR SNP G G A rs2291782 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:40831808G>A ENST00000274242.5 - 0 1241 NM_000997.4 NP_000988.1 P61927 RL37_HUMAN ribosomal protein L37 NA NA cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083) cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625) metal ion binding (GO:0046872)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735) lung(3)|ovary(1) 4 Breast(839;0.238) AATAAACCACGAAAACTAGGA 0.438 NA G||| 1261 0.251797 0.0628 0.4467 5008 , , NA 18416 0.244 NA 0.2604 False NA ,,, NA NA NA 2504 0.3681 NA NA NA Colon(188;1411 2035 4978 19588 31462) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L11567 CCDS3934.1 5p13.1 2013-09-23 ENSG00000145592 ENSG00000145592 6167 L ribosomal proteins 10347 protein-coding gene gene with protein product 60S ribosomal protein L37a 604181 NA 7545944, 9582194 Standard NM_000997 NM_000997 NA Approved L37 uc003jme.1 P61927 OTTHUMG00000094774 ENST00000274242.5:c.*798C>T chr5.hg19:g.40831808G>A NA B2R4H2|P02403|Q6IBB4|Q99883 hg19 CCDS3934.1 0.02 4.657579 CACxAAA COVERED NOVEL RPL37-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000211583.2 0 11.670982 KEEP 0 1 32 50 1694 GG 1 0.999997 0 - 7 60 261 0 0 17.961548 109 60 3812 202 ENST00000274242.5 0.060345 0.999997 CARD6 84674 __UNKNOWN__ __UNKNOWN__ 5 40852711 40852711 __UNKNOWN__ Intron SNP A A T rs3812031 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:40852711A>T ENST00000381677.3 + 3 916 CARD6_ENST00000254691.5_Missense_Mutation_p.D426V Q9BX69 CARD6_HUMAN caspase recruitment domain family, member 6 NA NA apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981) NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 62 GCCATGAAAGACATTGTGAAG 0.453 NA A||| 25 0.00499201 0.0 0.0216 5008 , , NA 20943 0.0099 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 A VAL/ASP 2,4404 4.2+/-10.8 0,2,2201 70 73 72 1277 0.1 1 5 dbSNP_107 72 0,8600 0,0,4300 yes missense CARD6 NM_032587.3 152 0,2,6501 TT,TA,AA 0.0,0.0454,0.0154 possibly-damaging 426/1038 40852711 2,13004 2203 4300 6503 SO:0001627 intron_variant AF356193 CCDS3935.1 5p13.1 2008-05-23 ENSG00000132357 ENSG00000132357 84674 16394 protein-coding gene gene with protein product 609986 NA 12775719 Standard NM_032587 NA Approved CINCIN1 uc003jmg.3 Q9BX69 OTTHUMG00000094775 ENST00000381677.3:c.842-7389A>T chr5.hg19:g.40852711A>T NA Q52LR2 hg19 0.02 17.047353 AAGxCAT COVERED 10 0.004578754578754579 0 0.0 6 0.016574585635359115 4 0.006993006993006993 0 0.0 A 16.76 3.212998 0.58452 4.54E-4 0.0 ENSG00000132357 ENST00000254691;ENST00000509771 T 0.15372 2.43 5.49 0.123 0.14709 . 0.699309 0.13536 N 0.380602 T 0.12860 0.0312 M 0.81497 2.545 0.80722 D 1 D 0.53619 0.961 P 0.47744 0.556 T 0.07809 -1.0753 10 0.72032 D 0.01 -1.069 5.3808 0.16189 0.5959:0.1703:0.2338:0.0 rs3812031;rs52794591;rs3812031 426 Q9BX69 CARD6_HUMAN V 426 ENSP00000254691:D426V ENSP00000254691:D426V D + 2 0 CARD6 40888468 0.995000 0.38212 0.964000 0.40570 0.948000 0.59901 0.709000 0.25734 -0.115000 0.11915 0.533000 0.62120 GAC NOVEL CARD6-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000367557.1 3 12.335674 KEEP 0 0 0 41 1263 AA 1 1 0 + 24 60 760 0 0 47.862059 416 60 14765 543 ENST00000381677.3 0.054545 1 CARD6 84674 __UNKNOWN__ __UNKNOWN__ 5 40853048 40853048 __UNKNOWN__ Intron SNP C C T rs16870407 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:40853048C>T ENST00000381677.3 + 3 916 CARD6_ENST00000254691.5_Silent_p.S538S Q9BX69 CARD6_HUMAN caspase recruitment domain family, member 6 NA NA apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981) NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 62 ATCTAGAAAGCTTTTGGACTC 0.388 NA C||| 827 0.165136 0.0295 0.1974 5008 , , NA 20396 0.3284 NA 0.0805 False NA ,,, NA NA NA 2504 0.2444 NA NA NA NA 0 C 217,4189 124.1+/-161.4 5,207,1991 90 97 95 1614 1.2 0.3 5 dbSNP_123 95 798,7802 174.0+/-224.4 47,704,3549 no coding-synonymous CARD6 NM_032587.3 52,911,5540 TT,TC,CC 9.2791,4.9251,7.8041 538/1038 40853048 1015,11991 2203 4300 6503 SO:0001627 intron_variant AF356193 CCDS3935.1 5p13.1 2008-05-23 ENSG00000132357 ENSG00000132357 84674 16394 protein-coding gene gene with protein product 609986 NA 12775719 Standard NM_032587 NA Approved CINCIN1 uc003jmg.3 Q9BX69 OTTHUMG00000094775 ENST00000381677.3:c.842-7052C>T chr5.hg19:g.40853048C>T NA Q52LR2 hg19 0.02 20.264704 AAGxTTT COVERED NOVEL CARD6-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000367557.1 7 23.210058 KEEP 0 1 22 85 3098 CC 1 1 0 + 35 60 1198 0 0 80.326153 503 60 19215 761 ENST00000381677.3 0.065056 1 C7 730 __UNKNOWN__ __UNKNOWN__ 5 40928792 40928792 __UNKNOWN__ Intron SNP T T A rs2459467 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:40928792T>A ENST00000313164.9 + 2 421 NM_000587.2 NP_000578.2 P10643 CO7_HUMAN complement component 7 NA NA cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449) extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579) NA Ovarian(839;0.0112) AATGTTTTAGTAATTCTTTAG 0.284 NA A||| 2739 0.546925 0.7209 0.4928 5008 , , NA 11794 0.5794 NA 0.4135 False NA ,,, NA NA NA 2504 0.454 NA NA NA NA 0 A 936,448 314,308,70 93 78 83 0.6 0 5 dbSNP_100 83 1207,1955 238,731,612 no intron C7 NM_000587.2 552,1039,682 AA,AT,TT 38.172,32.3699,47.1403 40928792 2143,2403 692 1581 2273 SO:0001627 intron_variant J03507 CCDS47201.1 5p13.1 2014-09-17 ENSG00000112936 ENSG00000112936 730 Complement system 1346 protein-coding gene gene with protein product 217070 NA Standard NM_000587 NA Approved uc003jmh.3 P10643 OTTHUMG00000150340 ENST00000313164.9:c.62+55T>A chr5.hg19:g.40928792T>A NA Q6P3T5|Q92489 hg19 CCDS47201.1 0.02 2.171458 TAGxAAT COVERED NOVEL C7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000317680.1 1 6.318619 KEEP 0 0 0 21 659 TT 0.999869 0.999764 0 + 6 60 219 0 0 15.103719 87 60 3125 127 ENST00000313164.9 0.064516 0.999895 C6 729 __UNKNOWN__ __UNKNOWN__ 5 41142606 41142606 __UNKNOWN__ 3'UTR SNP C C T rs9200 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:41142606C>T ENST00000263413.3 - 0 3390 C6_ENST00000337836.5_3'UTR NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 NA NA complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449) extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579) central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) TTTCTAATTGCGAGAATGCTT 0.363 NA T||| 3359 0.670727 0.8699 0.7118 5008 , , NA 19812 0.6786 NA 0.4632 False NA ,,, NA NA NA 2504 0.5777 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant J05024 CCDS3936.1 5p13.1 2014-09-17 ENSG00000039537 ENSG00000039537 729 Complement system 1339 protein-coding gene gene with protein product 217050 NA Standard NM_001115131 NA Approved uc003jmk.3 P13671 OTTHUMG00000094781 ENST00000263413.3:c.*321G>A chr5.hg19:g.41142606C>T NA hg19 CCDS3936.1 0.02 6.430007 TTGxGAG COVERED NOVEL C6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000211592.1 1 5.417607 KEEP 0 0 0 18 628 CC 0.999859 0.999859 0 - 11 60 399 0 0 27.31789 164 60 5756 210 ENST00000263413.3 0.062857 1 C6 729 __UNKNOWN__ __UNKNOWN__ 5 41149284 41149284 __UNKNOWN__ Intron SNP G G A rs1014588 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:41149284G>A ENST00000263413.3 - 17 2888 C6_ENST00000337836.5_Intron NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 NA NA complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449) extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579) central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) GAAAGATGATGTACTAGCTGA 0.308 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant J05024 CCDS3936.1 5p13.1 2014-09-17 ENSG00000039537 ENSG00000039537 729 Complement system 1339 protein-coding gene gene with protein product 217050 NA Standard NM_001115131 NA Approved uc003jmk.3 P13671 OTTHUMG00000094781 ENST00000263413.3:c.2623+58C>T chr5.hg19:g.41149284G>A NA hg19 CCDS3936.1 0.02 3.821788 GATxTAC COVERED NOVEL C6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000211592.1 0 6.620972 KEEP 0 0 0 22 740 GG 0.999879 0.999879 0 - 7 60 247 0 0 15.909729 136 60 5109 173 ENST00000263413.3 0.048951 1 PLCXD3 345557 __UNKNOWN__ __UNKNOWN__ 5 41310735 41310735 __UNKNOWN__ 3'UTR SNP G G A rs7701760 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:41310735G>A ENST00000377801.3 - 0 4024 PLCXD3_ENST00000328457.3_3'UTR Q63HM9 PLCX3_HUMAN phosphatidylinositol-specific phospholipase C, X domain containing 3 NA NA lipid catabolic process (GO:0016042) phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 CTTCCCCAGTGTGCTCCAGGG 0.488 NA G||| 770 0.153754 0.0734 0.134 5008 , , NA 19553 0.374 NA 0.0408 False NA ,,, NA NA NA 2504 0.1656 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS34150.1 5p13.1 2004-09-09 ENSG00000182836 ENSG00000182836 345557 31822 protein-coding gene gene with protein product NA Standard XM_293875 NM_001005473 NA Approved uc003jmm.1 Q63HM9 OTTHUMG00000162076 ENST00000377801.3:c.*2984C>T chr5.hg19:g.41310735G>A NA A6NL04 hg19 CCDS34150.1 0.02 6.12275 AGTxTGC COVERED NOVEL PLCXD3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000367109.1 1 8.728706 KEEP 0 0 0 29 1054 GG 0.999997 0.999997 0 - 8 60 272 0 0 17.399007 145 60 5397 215 ENST00000377801.3 0.052288 1 PLCXD3 345557 __UNKNOWN__ __UNKNOWN__ 5 41311975 41311975 __UNKNOWN__ 3'UTR SNP C C A rs11744499 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:41311975C>A ENST00000377801.3 - 0 2784 PLCXD3_ENST00000328457.3_3'UTR Q63HM9 PLCX3_HUMAN phosphatidylinositol-specific phospholipase C, X domain containing 3 NA NA lipid catabolic process (GO:0016042) phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 GCCATATGTGCTACATTTAAG 0.333 NA C||| 874 0.174521 0.149 0.1398 5008 , , NA 15461 0.374 NA 0.0408 False NA ,,, NA NA NA 2504 0.1656 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS34150.1 5p13.1 2004-09-09 ENSG00000182836 ENSG00000182836 345557 31822 protein-coding gene gene with protein product NA Standard XM_293875 NM_001005473 NA Approved uc003jmm.1 Q63HM9 OTTHUMG00000162076 ENST00000377801.3:c.*1744G>T chr5.hg19:g.41311975C>A NA A6NL04 hg19 CCDS34150.1 0.02 4.31262 GTGxTAC COVERED NOVEL PLCXD3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000367109.1 1 5.417521 KEEP 0 0 0 18 645 CC 0.999859 0.999859 0 - 5 60 185 0 0 11.461461 139 60 5169 182 ENST00000377801.3 0.034722 1 C5orf51 285636 __UNKNOWN__ __UNKNOWN__ 5 41917652 41917652 __UNKNOWN__ 3'UTR SNP T T C rs72746996 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:41917652T>C ENST00000381647.2 + 0 1155 NM_175921.4 NP_787117.3 A6NDU8 CE051_HUMAN chromosome 5 open reading frame 51 NA NA endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 11 GTTATGTCACTAATAATGAGT 0.254 NA T||| 514 0.102636 0.1815 0.1628 5008 , , NA 16064 0.0288 NA 0.0537 False NA ,,, NA NA NA 2504 0.0798 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL833916, AK094002 CCDS34151.1 5p13.1 2008-07-18 ENSG00000205765 ENSG00000205765 285636 27750 protein-coding gene gene with protein product NA 14702039 Standard NM_175921 NM_175921 NA Approved LOC285636 uc003jmo.3 A6NDU8 OTTHUMG00000162084 ENST00000381647.2:c.*251T>C chr5.hg19:g.41917652T>C NA A2RRM9 hg19 CCDS34151.1 0.02 8.856148 CACxAAT COVERED NOVEL C5orf51-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000367144.1 2 14.143091 KEEP 0 0 0 47 1486 TT 1 1 0 + 10 70 370 0 0 24.191852 206 70 7640 324 ENST00000381647.2 0.046296 1 FBXO4 26272 __UNKNOWN__ __UNKNOWN__ 5 41925435 41925435 __UNKNOWN__ Missense_Mutation SNP C C G rs2231917 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:41925435C>G ENST00000509134.1 + 1 33 c.24C>G c.(22-24)agC>agG p.S8R FBXO4_ENST00000296812.2_Missense_Mutation_p.S8R|FBXO4_ENST00000281623.3_Missense_Mutation_p.S8R Q9UKT5 FBX4_HUMAN F-box protein 4 8 NA S -> R (in esophagus cancer samples; dbSNP:rs2231917). {ECO:0000269|PubMed:18598945}. positive regulation of protein ubiquitination (GO:0031398)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|telomere maintenance (GO:0000723)|ubiquitin-dependent protein catabolic process (GO:0006511) cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151) protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842) breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2) 27 Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604) AGCCGCGCAGCGGAACAAACT 0.701 NA C||| 117 0.0233626 0.0015 0.1182 5008 , , NA 12852 0.0288 NA 0.001 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 C ARG/SER,ARG/SER 1,2907 0,1,1453 3 5 4 24,24 1.6 0 5 dbSNP_98 4 2,5550 0,2,2774 no missense,missense FBXO4 NM_012176.2,NM_033484.2 110,110 0,3,4227 GG,GC,CC 0.036,0.0344,0.0355 benign,benign 8/388,8/308 41925435 3,8457 1454 2776 4230 SO:0001583 missense AF129534 CCDS3938.1, CCDS3939.1, CCDS75238.1 5p12 2008-02-05 2004-06-15 ENSG00000151876 ENSG00000151876 26272 F-boxes / other 13583 protein-coding gene gene with protein product 609090 F-box only protein 4 NA 10531035, 10531037 Standard NM_033484 NA Approved FBX4 uc003jmq.3 Q9UKT5 OTTHUMG00000094799 ENST00000509134.1:c.24C>G chr5.hg19:g.41925435C>G ENSP00000421749:p.Ser8Arg NA Q68CU8|Q86VT8|Q9UK98 hg19 0.02 3.924416 CAGxGGA COVERED 51 0.023351648351648352 2 0.0040650406504065045 36 0.09944751381215469 13 0.022727272727272728 0 0.0 C 11.79 1.743424 0.30865 3.44E-4 3.6E-4 ENSG00000151876 ENST00000296812;ENST00000281623;ENST00000509134 T;T;T 0.62232 0.04;0.04;0.04 4.51 1.64 0.23874 . 1.322190 0.04781 N 0.429814 T 0.01695 0.0054 N 0.19112 0.55 0.80722 P 0.0 B;B;B 0.02656 0.0;0.0;0.0 B;B;B 0.04013 0.0;0.0;0.001 T 0.07520 -1.0768 9 0.35671 T 0.21 -5.7685 7.4123 0.27023 0.0:0.5877:0.3228:0.0895 rs2231917 8;8;8 D6RAJ6;Q9UKT5;Q9UKT5-2 .;FBX4_HUMAN;. R 8 ENSP00000296812:S8R;ENSP00000281623:S8R;ENSP00000421749:S8R ENSP00000281623:S8R S + 3 2 FBXO4 41961192 0.666000 0.27475 0.005000 0.12908 0.156000 0.22039 0.816000 0.27267 0.223000 0.20920 -0.216000 0.12614 AGC NOVEL FBXO4-003 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000367157.1 2 34.007005 KEEP 0 0 0 113 3903 CC 1 0.999999 0 + 6 60 215 0 0 14.02275 114 60 4037 290 ENST00000509134.1 0.05 0.999999 GHR 2690 __UNKNOWN__ __UNKNOWN__ 5 42700044 42700044 __UNKNOWN__ Silent SNP A A G rs6179|rs45477803 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:42700044A>G ENST00000230882.4 + 6 748 c.558A>G c.(556-558)ggA>ggG p.G186G GHR_ENST00000537449.1_5'UTR|GHR_ENST00000357703.3_Silent_p.G164G NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2 NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1 P10912 GHR_HUMAN growth hormone receptor 186 Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}. NA 2-oxoglutarate metabolic process (GO:0006103)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPK activity (GO:0000187)|allantoin metabolic process (GO:0000255)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|endocytosis (GO:0006897)|fatty acid metabolic process (GO:0006631)|growth hormone receptor signaling pathway (GO:0060396)|insulin-like growth factor receptor signaling pathway (GO:0048009)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|multicellular organismal metabolic process (GO:0044236)|oxaloacetate metabolic process (GO:0006107)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|receptor internalization (GO:0031623)|regulation of multicellular organism growth (GO:0040014)|response to cycloheximide (GO:0046898)|response to estradiol (GO:0032355)|succinate metabolic process (GO:0006105)|taurine metabolic process (GO:0019530)|valine metabolic process (GO:0006573) cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|growth hormone receptor complex (GO:0070195)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) cytokine receptor activity (GO:0004896)|growth factor binding (GO:0019838)|peptide hormone binding (GO:0017046)|proline-rich region binding (GO:0070064)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901) NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) TTCAGAAAGGATGGATGGTTC 0.388 NA A||| 3213 0.641573 0.3971 0.7651 5008 , , NA 20058 0.8165 NA 0.6819 False NA ,,, NA NA NA 2504 0.6626 NA NA NA NA 0 A ,,,,,,,,,,, 1974,2432 556.7+/-379.6 428,1118,657 121 107 112 558,579,558,558,558,558,558,558,558,492,558,558 -0.9 1 5 dbSNP_52 112 6270,2330 704.3+/-405.4 2286,1698,316 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous GHR NM_000163.4,NM_001242399.2,NM_001242400.2,NM_001242401.3,NM_001242402.2,NM_001242403.2,NM_001242404.2,NM_001242405.2,NM_001242406.2,NM_001242460.1,NM_001242461.1,NM_001242462.1 ,,,,,,,,,,, 2714,2816,973 GG,GA,AA 27.093,44.8025,36.6139 ,,,,,,,,,,, 186/639,193/646,186/639,186/639,186/639,186/639,186/639,186/639,186/639,164/617,186/298,186/296 42700044 8244,4762 2203 4300 6503 SO:0001819 synonymous_variant CCDS3940.1, CCDS56364.1, CCDS75239.1, CCDS75240.1 5p14-p12 2013-03-25 ENSG00000112964 ENSG00000112964 2690 Fibronectin type III domain containing 4263 protein-coding gene gene with protein product growth hormone binding protein 600946 NA Standard NM_000163 NM_001242460 NA Approved GHBP uc003jmt.3 P10912 OTTHUMG00000094791 ENST00000230882.4:c.558A>G chr5.hg19:g.42700044A>G NA Q9HCX2 hg19 CCDS3940.1 0.02 13.848722 AGGxTGG COVERED NOVEL GHR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000211605.2 0 11.734302 KEEP 0 0 0 39 1212 AA 1 1 0 + 9 60 351 0 0 21.503889 318 60 11741 419 ENST00000230882.4 0.027523 1 CCDC152 100129792 __UNKNOWN__ __UNKNOWN__ 5 42800808 42800808 __UNKNOWN__ 3'UTR SNP C C T rs7579 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:42800808C>T ENST00000361970.5 + 0 1777 SEPP1_ENST00000506577.1_3'UTR|SEPP1_ENST00000511224.1_3'UTR|SEPP1_ENST00000514985.1_3'UTR NM_001134848.1 NP_001128320.1 Q4G0S7 CC152_HUMAN coiled-coil domain containing 152 NA NA endometrium(1) 1 GGGAGTATGTCCTATTTTAAA 0.338 NA C||| 1217 0.243011 0.1248 0.3862 5008 , , NA 18384 0.2728 NA 0.2903 False NA ,,, NA NA NA 2504 0.2219 NA NA NA NA 0 C ,,, 530,3134 39,452,1341 87 83 84 ,,, 2.3 0 5 dbSNP_52 84 2352,5832 339,1674,2079 no utr-3,utr-3,utr-3,utr-3 SEPP1,CCDC152 NM_001085486.1,NM_001093726.1,NM_001134848.1,NM_005410.2 ,,, 378,2126,3420 TT,TC,CC 28.739,14.4651,24.3248 ,,, ,,, 42800808 2882,8966 1832 4092 5924 SO:0001624 3_prime_UTR_variant CCDS47203.1 5p12 2008-07-14 ENSG00000198865 ENSG00000198865 100129792 34438 protein-coding gene gene with protein product NA Standard XM_001717416 NM_001134848 NA Approved LOC100129792 uc003jmx.3 Q4G0S7 OTTHUMG00000162141 ENST00000361970.5:c.*925C>T chr5.hg19:g.42800808C>T NA B3KXI4|B4E0P7|Q5BLP6 hg19 CCDS47203.1 0.02 25.071189 TGTxCTA COVERED NOVEL CCDC152-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000367497.1 2 20.465606 KEEP 0 0 0 68 2342 CC 1 1 0 + 24 60 863 0 0 53.381901 613 60 22855 786 ENST00000361970.5 0.037677 1 ZNF131 7690 __UNKNOWN__ __UNKNOWN__ 5 43173567 43173567 __UNKNOWN__ Intron SNP A A G rs3752831 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:43173567A>G ENST00000399534.1 + 6 1229 ZNF131_ENST00000509634.1_Intron|ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000509156.1_Intron|ZNF131_ENST00000306938.4_Intron|ZNF131_ENST00000505606.2_Intron P52739 ZN131_HUMAN zinc finger protein 131 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 17 GCAGATACATACATTCAGTTC 0.433 NA G||| 588 0.117412 0.0461 0.0821 5008 , , NA 17301 0.2113 NA 0.1243 False NA ,,, NA NA NA 2504 0.135 NA NA NA NA 0 G 176,3690 3,170,1760 55 54 55 -4.1 0 5 dbSNP_107 55 1023,7263 68,887,3188 no intron ZNF131 NM_003432.1 71,1057,4948 GG,GA,AA 12.3461,4.5525,9.8667 43173567 1199,10953 1933 4143 6076 SO:0001627 intron_variant U09410 CCDS43313.1 5p12 2013-01-09 2006-06-13 ENSG00000172262 ENSG00000172262 7690 Zinc fingers, C2H2-type, -, BTB/POZ domain containing 12915 protein-coding gene gene with protein product zinc finger and BTB domain containing 35 604073 zinc finger protein 131 (clone pHZ-10) NA Standard NM_003432 XM_005248359 NA Approved ZBTB35, pHZ-10 uc003jnk.3 P52739 OTTHUMG00000162223 ENST00000399534.1:c.1185+17A>G chr5.hg19:g.43173567A>G NA B4DRL3|Q6PIF0 hg19 0.02 11.024623 CATxCAT COVERED NOVEL ZNF131-201 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000367982.1 2 16.847646 KEEP 0 0 0 56 1692 AA 1 1 0 + 8 60 307 0 0 18.527353 290 60 10477 446 ENST00000399534.1 0.026846 1 ZNF131 7690 __UNKNOWN__ __UNKNOWN__ 5 43175103 43175103 __UNKNOWN__ Silent SNP C C T rs35397154 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:43175103C>T ENST00000399534.1 + 7 1784 c.1740C>T c.(1738-1740)agC>agT p.S580S ZNF131_ENST00000509634.1_Silent_p.S546S|ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000509156.1_Silent_p.S580S|ZNF131_ENST00000306938.4_Silent_p.S546S|ZNF131_ENST00000505606.2_Silent_p.S546S P52739 ZN131_HUMAN zinc finger protein 131 580 NA regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 17 GAGAGTCTAGCCAAGCAGATG 0.483 NA C||| 588 0.117412 0.0461 0.0821 5008 , , NA 19937 0.2113 NA 0.1243 False NA ,,, NA NA NA 2504 0.135 NA NA NA NA 0 C 187,3769 3,181,1794 72 70 71 1638 4.6 0.7 5 dbSNP_126 71 1031,7295 67,897,3199 no coding-synonymous ZNF131 NM_003432.1 70,1078,4993 TT,TC,CC 12.3829,4.727,9.917 546/590 43175103 1218,11064 1978 4163 6141 SO:0001819 synonymous_variant U09410 CCDS43313.1 5p12 2013-01-09 2006-06-13 ENSG00000172262 ENSG00000172262 7690 Zinc fingers, C2H2-type, -, BTB/POZ domain containing 12915 protein-coding gene gene with protein product zinc finger and BTB domain containing 35 604073 zinc finger protein 131 (clone pHZ-10) NA Standard NM_003432 XM_005248359 NA Approved ZBTB35, pHZ-10 uc003jnk.3 P52739 OTTHUMG00000162223 ENST00000399534.1:c.1740C>T chr5.hg19:g.43175103C>T NA B4DRL3|Q6PIF0 hg19 0.02 5.967024 TAGxCAA COVERED NOVEL ZNF131-201 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000367982.1 0 12.036592 KEEP 0 0 0 40 1419 CC 1 1 0 + 10 60 350 0 0 23.242285 161 60 5861 264 ENST00000399534.1 0.05848 1 HCN1 348980 __UNKNOWN__ __UNKNOWN__ 5 45260537 45260537 __UNKNOWN__ 3'UTR SNP A A T rs75700427 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:45260537A>T ENST00000303230.4 - 0 4216 NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 NA NA apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268) axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248) NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 ATGCTCATAGACGTTCAACTT 0.393 NA A||| 135 0.0269569 0.0 0.0 5008 , , NA 18514 0.127 NA 0.0 False NA ,,, NA NA NA 2504 0.0072 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF064876 CCDS3952.1 5p12 2011-07-05 ENSG00000164588 ENSG00000164588 348980 Voltage-gated ion channels / Cyclic nucleotide-regulated channels 4845 protein-coding gene gene with protein product 602780 BCNG1 NA 9405696, 9630217, 16382102 Standard NM_021072 NM_021072 NA Approved BCNG-1, HAC-2 uc003jok.3 O60741 OTTHUMG00000131155 ENST00000303230.4:c.*1486T>A chr5.hg19:g.45260537A>T NA hg19 CCDS3952.1 0.02 8.354255 TAGxCGT COVERED NOVEL HCN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253847.1 0 8.122412 KEEP 0 0 0 27 859 AA 0.999988 0.999988 0 - 8 60 294 0 0 18.547878 197 60 7078 279 ENST00000303230.4 0.039024 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 5 49410230 49410230 __UNKNOWN__ IGR SNP A A C rs141946569 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:49410230A>C NA NA None (None upstream) : EMB (281795 downstream) NA NA NA agattctccaaaaacagtgtt 0.388 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr5.hg19:g.49410230A>C NA hg19 0.02 -0.201785 CCAxAAA UNCOVERED NOVEL 0 0 3.009414 KEEP 14 0 0 10 326 AA 0 0 0 2 20 85 0 0 7.106235 10 40 361 56 0.166667 0.490544 Unknown 0 __UNKNOWN__ __UNKNOWN__ 5 49440322 49440322 __UNKNOWN__ IGR SNP T T G rs8185342 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:49440322T>G NA NA None (None upstream) : EMB (251703 downstream) NA NA NA atttcctttttgaccgtaggc 0.393 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr5.hg19:g.49440322T>G NA hg19 0.02 -0.166693 TTTxGAC COVERED NOVEL 0 2 2.708106 KEEP 5 0 0 9 277 TT 0.99257 0.351317 0 2 23 80 0 0 6.396374 13 43 482 42 0.133333 0.353947 PARP8 79668 __UNKNOWN__ __UNKNOWN__ 5 50045967 50045967 __UNKNOWN__ Intron SNP G G T rs2442107|rs199970985 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:50045967G>T ENST00000281631.5 + 3 304 PARP8_ENST00000511363.2_Intron|PARP8_ENST00000503750.2_Intron|PARP8_ENST00000514067.2_Intron|PARP8_ENST00000505697.2_Intron|PARP8_ENST00000505554.1_Intron|PARP8_ENST00000514342.2_Intron NM_001178056.1|NM_024615.3 NP_001171527.1|NP_078891.2 Q8N3A8 PARP8_HUMAN poly (ADP-ribose) polymerase family, member 8 NA NA intracellular (GO:0005622) NAD+ ADP-ribosyltransferase activity (GO:0003950) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Lung NSC(810;0.0305)|Breast(144;0.222) AGCCTTTTTTGTTTGTTTGTT 0.328 NA T||| 3050 0.609026 0.5613 0.6383 5008 , , NA 16548 0.6736 NA 0.7028 False NA ,,, NA NA NA 2504 0.4898 NA NA NA NA 0 T ,, 2683,1723 495.3+/-363.2 839,1005,359 104 100 101 ,, 2.8 0 5 dbSNP_100 101 5928,2668 408.9+/-349.7 2072,1784,442 no intron,intron,intron PARP8 NM_001178055.1,NM_001178056.1,NM_024615.3 ,, 2911,2789,801 TT,TG,GG 31.0377,39.1058,33.7717 ,, ,, 50045967 8611,4391 2203 4298 6501 SO:0001627 intron_variant AL834477 CCDS3954.1, CCDS54849.1 5q11.2 2010-02-16 ENSG00000151883 ENSG00000151883 79668 Poly (ADP-ribose) polymerases 26124 protein-coding gene gene with protein product NA 15273990 Standard NM_024615 NM_001178055 NA Approved FLJ21308, pART16 uc003joo.3 Q8N3A8 OTTHUMG00000096969 ENST00000281631.5:c.147-18G>T chr5.hg19:g.50045967G>T NA Q3KRB7|Q6DHZ1|Q9H754 hg19 CCDS3954.1 0.02 4.205476 TTTxTTT COVERED NOVEL PARP8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000214035.3 1 7.825529 KEEP 0 0 0 26 938 GG 0.999957 0.999956 0 + 6 60 218 2 0 14.27669 116 60 4531 187 ENST00000281631.5 0.04918 0.999999 PARP8 79668 __UNKNOWN__ __UNKNOWN__ 5 50053015 50053015 __UNKNOWN__ Intron SNP G G A rs282549 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:50053015G>A ENST00000281631.5 + 4 342 PARP8_ENST00000511363.2_Intron|PARP8_ENST00000503750.2_Intron|PARP8_ENST00000514067.2_Intron|PARP8_ENST00000505697.2_Intron|PARP8_ENST00000505554.1_Intron|PARP8_ENST00000514342.2_Intron NM_001178056.1|NM_024615.3 NP_001171527.1|NP_078891.2 Q8N3A8 PARP8_HUMAN poly (ADP-ribose) polymerase family, member 8 NA NA intracellular (GO:0005622) NAD+ ADP-ribosyltransferase activity (GO:0003950) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Lung NSC(810;0.0305)|Breast(144;0.222) tcctggttccgtttcctgtgg 0.378 NA A||| 4566 0.911741 0.9175 0.8718 5008 , , NA 19880 0.995 NA 0.8917 False NA ,,, NA NA NA 2504 0.8671 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL834477 CCDS3954.1, CCDS54849.1 5q11.2 2010-02-16 ENSG00000151883 ENSG00000151883 79668 Poly (ADP-ribose) polymerases 26124 protein-coding gene gene with protein product NA 15273990 Standard NM_024615 NM_001178055 NA Approved FLJ21308, pART16 uc003joo.3 Q8N3A8 OTTHUMG00000096969 ENST00000281631.5:c.185-2462G>A chr5.hg19:g.50053015G>A NA Q3KRB7|Q6DHZ1|Q9H754 hg19 CCDS3954.1 0.02 23.897011 TCCxTTT COVERED NOVEL PARP8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000214035.3 1 9.369961 KEEP 0 4 125 75 2620 GG 1 1 0 + 21 60 751 0 0 45.968341 557 60 20134 825 ENST00000281631.5 0.036332 1 PARP8 79668 __UNKNOWN__ __UNKNOWN__ 5 50128570 50128570 __UNKNOWN__ Intron SNP T T A rs116951530 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:50128570T>A ENST00000281631.5 + 23 2391 PARP8_ENST00000511363.2_Intron|PARP8_ENST00000503750.2_Intron|PARP8_ENST00000514067.2_Intron|PARP8_ENST00000505697.2_Intron|PARP8_ENST00000505554.1_Intron|PARP8_ENST00000514342.2_Intron NM_001178056.1|NM_024615.3 NP_001171527.1|NP_078891.2 Q8N3A8 PARP8_HUMAN poly (ADP-ribose) polymerase family, member 8 NA NA intracellular (GO:0005622) NAD+ ADP-ribosyltransferase activity (GO:0003950) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Lung NSC(810;0.0305)|Breast(144;0.222) TTCAGCTGCATCAGACAGCTT 0.428 NA T||| 94 0.01877 0.0 0.0014 5008 , , NA 16994 0.0903 NA 0.002 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 T ,, 0,4406 0,0,2203 69 64 66 ,, -1.7 0 5 dbSNP_132 66 5,8595 4.3+/-15.6 0,5,4295 no intron,intron,intron PARP8 NM_001178055.1,NM_001178056.1,NM_024615.3 ,, 0,5,6498 AA,AT,TT 0.0581,0.0,0.0384 ,, ,, 50128570 5,13001 2203 4300 6503 SO:0001627 intron_variant AL834477 CCDS3954.1, CCDS54849.1 5q11.2 2010-02-16 ENSG00000151883 ENSG00000151883 79668 Poly (ADP-ribose) polymerases 26124 protein-coding gene gene with protein product NA 15273990 Standard NM_024615 NM_001178055 NA Approved FLJ21308, pART16 uc003joo.3 Q8N3A8 OTTHUMG00000096969 ENST00000281631.5:c.2234-45T>A chr5.hg19:g.50128570T>A NA Q3KRB7|Q6DHZ1|Q9H754 hg19 CCDS3954.1 0.02 12.856203 GCAxCAG COVERED NOVEL PARP8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000214035.3 0 14.139829 KEEP 0 0 0 47 1427 TT 1 1 0 + 15 60 550 0 0 35.955797 301 60 10992 425 ENST00000281631.5 0.047468 1 PARP8 79668 __UNKNOWN__ __UNKNOWN__ 5 50140456 50140456 __UNKNOWN__ 3'UTR SNP A A G rs27389 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:50140456A>G ENST00000281631.5 + 0 5277 PARP8_ENST00000503750.2_3'UTR NM_001178056.1|NM_024615.3 NP_001171527.1|NP_078891.2 Q8N3A8 PARP8_HUMAN poly (ADP-ribose) polymerase family, member 8 NA NA intracellular (GO:0005622) NAD+ ADP-ribosyltransferase activity (GO:0003950) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Lung NSC(810;0.0305)|Breast(144;0.222) CTGTTCACCAATGCTTTGTAA 0.294 NA A||| 3717 0.742212 0.4735 0.7896 5008 , , NA 15412 0.9365 NA 0.8101 False NA ,,, NA NA NA 2504 0.8016 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL834477 CCDS3954.1, CCDS54849.1 5q11.2 2010-02-16 ENSG00000151883 ENSG00000151883 79668 Poly (ADP-ribose) polymerases 26124 protein-coding gene gene with protein product NA 15273990 Standard NM_024615 NM_001178055 NA Approved FLJ21308, pART16 uc003joo.3 Q8N3A8 OTTHUMG00000096969 ENST00000281631.5:c.*2554A>G chr5.hg19:g.50140456A>G NA Q3KRB7|Q6DHZ1|Q9H754 hg19 CCDS3954.1 0.02 6.719494 CCAxTGC COVERED NOVEL PARP8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000214035.3 1 3.611204 KEEP 0 0 0 12 388 AA 0.993634 0.993634 0 + 10 60 380 0 0 26.104008 166 60 5980 223 ENST00000281631.5 0.056818 1 PARP8 79668 __UNKNOWN__ __UNKNOWN__ 5 50140616 50140616 __UNKNOWN__ 3'UTR SNP C C T rs27606 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:50140616C>T ENST00000281631.5 + 0 5437 PARP8_ENST00000503750.2_3'UTR NM_001178056.1|NM_024615.3 NP_001171527.1|NP_078891.2 Q8N3A8 PARP8_HUMAN poly (ADP-ribose) polymerase family, member 8 NA NA intracellular (GO:0005622) NAD+ ADP-ribosyltransferase activity (GO:0003950) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Lung NSC(810;0.0305)|Breast(144;0.222) AAACATTTTACTATGAATAAT 0.264 NA C||| 3700 0.738818 0.4629 0.7853 5008 , , NA 15676 0.9365 NA 0.8101 False NA ,,, NA NA NA 2504 0.8016 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL834477 CCDS3954.1, CCDS54849.1 5q11.2 2010-02-16 ENSG00000151883 ENSG00000151883 79668 Poly (ADP-ribose) polymerases 26124 protein-coding gene gene with protein product NA 15273990 Standard NM_024615 NM_001178055 NA Approved FLJ21308, pART16 uc003joo.3 Q8N3A8 OTTHUMG00000096969 ENST00000281631.5:c.*2714C>T chr5.hg19:g.50140616C>T NA Q3KRB7|Q6DHZ1|Q9H754 hg19 CCDS3954.1 0.02 4.419827 TTAxTAT COVERED NOVEL PARP8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000214035.3 5 6.320737 KEEP 0 0 0 21 763 CC 0.999869 0.999861 0 + 5 60 186 0 0 12.17658 104 60 3898 142 ENST00000281631.5 0.045872 0.999992 ITGA1 3672 __UNKNOWN__ __UNKNOWN__ 5 52251254 52251254 __UNKNOWN__ 3'UTR SNP C C A rs1833556 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:52251254C>A ENST00000282588.6 + 0 6971 CTD-2175A23.1_ENST00000505701.1_RNA|CTD-2175A23.1_ENST00000503559.1_RNA NM_181501.1 NP_852478.1 P56199 ITA1_HUMAN integrin, alpha 1 NA NA activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311) acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886) collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903) NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(810;5.05e-05)|Breast(144;0.0851) TGTCTATATACATATCCAATG 0.313 NA C||| 549 0.109625 0.1982 0.0706 5008 , , NA 18086 0.1538 NA 0.0408 False NA ,,, NA NA NA 2504 0.0429 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X68742 CCDS3955.1 5q11.1 2010-03-23 ENSG00000213949 ENSG00000213949 3672 CD molecules, Integrins 6134 protein-coding gene gene with protein product 192968 NA 8428973, 11937138 Standard NM_181501 NM_181501 NA Approved VLA1, CD49a uc003jou.3 P56199 OTTHUMG00000131163 ENST00000282588.6:c.*2973C>A chr5.hg19:g.52251254C>A NA B2RNU0 hg19 CCDS3955.1 0.02 2.250525 ATAxATA COVERED NOVEL ITGA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253855.3 1 3.009926 KEEP 0 0 0 10 363 CC 0.992708 0.99227 0 + 5 60 178 0 0 11.957834 79 60 2931 102 ENST00000282588.6 0.059524 0.999559 ITGA1 3672 __UNKNOWN__ __UNKNOWN__ 5 52251454 52251454 __UNKNOWN__ 3'UTR SNP A A G rs56368798 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:52251454A>G ENST00000282588.6 + 0 7171 CTD-2175A23.1_ENST00000505701.1_RNA|CTD-2175A23.1_ENST00000503559.1_RNA NM_181501.1 NP_852478.1 P56199 ITA1_HUMAN integrin, alpha 1 NA NA activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311) acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886) collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903) NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(810;5.05e-05)|Breast(144;0.0851) ATAAAGGGTGATCCACAGTGA 0.318 NA A||| 630 0.125799 0.2504 0.0764 5008 , , NA 10988 0.1587 NA 0.0408 False NA ,,, NA NA NA 2504 0.046 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X68742 CCDS3955.1 5q11.1 2010-03-23 ENSG00000213949 ENSG00000213949 3672 CD molecules, Integrins 6134 protein-coding gene gene with protein product 192968 NA 8428973, 11937138 Standard NM_181501 NM_181501 NA Approved VLA1, CD49a uc003jou.3 P56199 OTTHUMG00000131163 ENST00000282588.6:c.*3173A>G chr5.hg19:g.52251454A>G NA B2RNU0 hg19 CCDS3955.1 0.02 5.95493 GTGxTCC COVERED NOVEL ITGA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253855.3 0 8.099289 KEEP 0 0 0 27 879 AA 0.999988 0.999988 0 + 7 60 258 0 0 16.079923 186 60 6628 285 ENST00000282588.6 0.036269 1 RP11-45H22.3 0 __UNKNOWN__ __UNKNOWN__ 5 54253555 54253555 __UNKNOWN__ Silent SNP A A G rs3815922 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:54253555A>G ENST00000505950.1 - 1 119 c.72T>C c.(70-72)tcT>tcC p.S24S NA NA NA GCTGGGAGCAAGATGGCTGCC 0.502 NA A||| 2907 0.580471 0.4992 0.5375 5008 , , NA 15989 0.8125 NA 0.5646 False NA ,,, NA NA NA 2504 0.498 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001819 synonymous_variant NA NA NA NA ENST00000505950.1:c.72T>C chr5.hg19:g.54253555A>G NA hg19 0.02 20.743027 GCAxGAT COVERED NOVEL RP11-45H22.3-001 PUTATIVE basic|appris_principal|exp_conf protein_coding NA protein_coding OTTHUMT00000367807.1 3 10.53237 KEEP 0 0 0 35 1130 AA 0.999999 0.999999 0 - 14 60 533 0 0 32.45952 470 60 17075 595 ENST00000505950.1 0.028926 1 RP11-45H22.3 0 __UNKNOWN__ __UNKNOWN__ 5 54253581 54253581 __UNKNOWN__ Missense_Mutation SNP A A G rs3815923 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:54253581A>G ENST00000505950.1 - 1 93 c.46T>C c.(46-48)Tgt>Cgt p.C16R NA NA NA ACCCAAGCACAACTATATCCA 0.502 NA G||| 2906 0.580272 0.4992 0.5375 5008 , , NA 16364 0.8115 NA 0.5646 False NA ,,, NA NA NA 2504 0.498 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense NA NA NA NA ENST00000505950.1:c.46T>C chr5.hg19:g.54253581A>G ENSP00000422101:p.Cys16Arg NA hg19 0.02 22.701557 CACxACT COVERED 1313 0.6011904761904762 243 0.49390243902439024 193 0.5331491712707183 456 0.7972027972027972 421 0.5554089709762533 G 0.010 -1.774399 0.00640 . . ENSG00000249016 ENST00000505950 . . . 1.35 -2.69 0.06022 . . . . . T 0.00012 0.0000 . . . . . . . . . . . . T 0.42865 -0.9426 4 0.87932 D 0 . 5.3701 0.16134 0.3875:0.1573:0.4553:0.0 rs3815923;rs11566704;rs52837442;rs3815923 . . . R 16 . ENSP00000422101:C16R C - 1 0 RP11-45H22.3 54289338 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -1.834000 0.01693 -3.312000 0.00190 -4.241000 0.00008 TGT NOVEL RP11-45H22.3-001 PUTATIVE basic|appris_principal|exp_conf protein_coding NA protein_coding OTTHUMT00000367807.1 1 15.947646 KEEP 0 0 0 53 1648 AA 1 1 0 - 18 60 634 0 0 37.205217 560 60 20523 753 ENST00000505950.1 0.031142 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 5 54253765 54253765 __UNKNOWN__ IGR SNP C C T rs3815925 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:54253765C>T NA NA RP11-45H22.3 (91 upstream) : ESM1 (19926 downstream) NA NA NA aggctttatccctgaactgag 0.433 NA T||| 2907 0.580471 0.4992 0.5375 5008 , , NA 20115 0.8125 NA 0.5646 False NA ,,, NA NA NA 2504 0.498 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr5.hg19:g.54253765C>T NA hg19 0.02 12.788912 ATCxCTG COVERED NOVEL 0 0 4.213542 KEEP 0 0 0 14 491 CC 0.995343 0.995343 0 16 60 580 0 0 37.730366 319 60 11408 366 0.047761 1 GZMA 3001 __UNKNOWN__ __UNKNOWN__ 5 54404057 54404057 __UNKNOWN__ Silent SNP C C G rs1051846 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:54404057C>G ENST00000274306.6 + 4 497 c.462C>G c.(460-462)ggC>ggG p.G154G NM_006144.3 NP_006135 P12544 GRAA_HUMAN granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3) 154 Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}. NA apoptotic process (GO:0006915)|cytolysis (GO:0019835)|immune response (GO:0006955)|negative regulation of DNA binding (GO:0043392)|negative regulation of endodeoxyribonuclease activity (GO:0032078)|negative regulation of oxidoreductase activity (GO:0051354)|positive regulation of apoptotic process (GO:0043065)|proteolysis involved in cellular protein catabolic process (GO:0051603) extracellular region (GO:0005576)|immunological synapse (GO:0001772)|nucleus (GO:0005634) protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252) NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 25 Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183) CAGGGTGGGGCAGGACTCACA 0.403 NA G||| 968 0.193291 0.2572 0.1023 5008 , , NA 18366 0.2688 NA 0.1342 False NA ,,, NA NA NA 2504 0.1544 NA NA NA NA 0 G 993,3413 730.1+/-410.1 123,747,1333 78 74 76 462 -10.1 0 5 dbSNP_86 76 1199,7401 762.2+/-407.6 82,1035,3183 no coding-synonymous GZMA NM_006144.3 205,1782,4516 GG,GC,CC 13.9419,22.5374,16.8538 154/263 54404057 2192,10814 2203 4300 6503 SO:0001819 synonymous_variant CCDS3965.1 5q11-q12 2008-07-18 ENSG00000145649 ENSG00000145649 3001 4708 protein-coding gene gene with protein product CTL tryptase, Granzyme A (Cytotoxic T-lymphocyte-associated serine esterase-3; Hanukah factor serine protease) 140050 HFSP, CTLA3 NA 3262682, 3533635 Standard NM_006144 NM_006144 NA Approved uc003jpm.3 P12544 OTTHUMG00000097011 ENST00000274306.6:c.462C>G chr5.hg19:g.54404057C>G NA A4PHN1|Q6IB36 hg19 CCDS3965.1 0.02 14.263011 GGGxAGG COVERED NOVEL GZMA-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000214100.2 0 6.621496 KEEP 0 0 0 22 789 CC 0.999879 0.999879 0 + 12 60 467 0 0 29.763082 336 60 12875 460 ENST00000274306.6 0.034483 1 GPX8 493869 __UNKNOWN__ __UNKNOWN__ 5 54459961 54459961 __UNKNOWN__ Missense_Mutation SNP A A G rs381852 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:54459961A>G ENST00000515370.1 + 3 415 c.392A>G c.(391-393)aAg>aGg p.K131R GPX8_ENST00000506123.1_3'UTR|CDC20B_ENST00000322374.6_Intron|GPX8_ENST00000503787.1_Missense_Mutation_p.K182R|CDC20B_ENST00000331730.3_Intron|CDC20B_ENST00000334206.5_Intron|GPX8_ENST00000296734.6_3'UTR|CDC20B_ENST00000296733.1_Intron|CDC20B_ENST00000381375.2_Intron Q8TED1 GPX8_HUMAN glutathione peroxidase 8 (putative) 182 NA response to oxidative stress (GO:0006979) endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021) glutathione peroxidase activity (GO:0004602)|peroxidase activity (GO:0004601) breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(1) 11 Glutathione(DB00143) AAGTTCTGGAAGCCAGAGGAG 0.408 NA G||| 4172 0.833067 0.9145 0.8646 5008 , , NA 17675 0.8274 NA 0.7903 False NA ,,, NA NA NA 2504 0.7505 NA NA NA NA 0 G ARG/LYS,,, 3887,519 241.2+/-251.7 1714,459,30 61 63 62 545,,, 5.9 1 5 dbSNP_80 62 7116,1484 282.7+/-295.7 2950,1216,134 yes missense,intron,intron,intron CDC20B,GPX8 NM_001008397.2,NM_001145734.2,NM_001170402.1,NM_152623.2 26,,, 4664,1675,164 GG,GA,AA 17.2558,11.7794,15.4006 benign,,, 182/210,,, 54459961 11003,2003 2203 4300 6503 SO:0001583 missense BC029424 CCDS34156.1 5q11.2 2008-09-29 ENSG00000164294 493869 33100 protein-coding gene gene with protein product NA Standard NM_001008397 NM_001008397 NA Approved UNQ847, EPLA847 uc003jpq.2 Q8TED1 ENST00000515370.1:c.392A>G chr5.hg19:g.54459961A>G ENSP00000427466:p.Lys131Arg NA hg19 0.02 19.196448 GGAxGCC COVERED 1836 0.8406593406593407 446 0.9065040650406504 307 0.8480662983425414 488 0.8531468531468531 595 0.7849604221635884 G 14.76 2.632157 0.46944 0.882206 0.827442 ENSG00000164294 ENST00000503787;ENST00000515370 T;T 0.03607 3.87;3.87 5.92 5.92 0.95590 Thioredoxin-like fold (2); 0.083017 0.85682 N 0.000000 T 0.00012 0.0000 N 0.01874 -0.695 0.52501 P 4.099999999995774E-5 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.18808 -1.0325 9 0.20519 T 0.43 . 15.4102 0.74911 0.0665:0.0:0.9335:0.0 rs381852;rs17682846;rs17856836;rs57828608;rs381852 131;182 E7ETY7;Q8TED1 .;GPX8_HUMAN R 182;131 ENSP00000423822:K182R;ENSP00000427466:K131R ENSP00000423822:K182R K + 2 0 GPX8 54495718 1.000000 0.71417 1.000000 0.80357 0.995000 0.86356 1.946000 0.40283 1.515000 0.48885 -0.128000 0.14901 AAG NOVEL GPX8-003 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000369719.1 5 19.258272 KEEP 0 0 0 64 2054 AA 1 1 0 + 16 60 593 0 0 37.774665 395 60 14588 596 ENST00000515370.1 0.038929 1 CDC20B 166979 __UNKNOWN__ __UNKNOWN__ 5 54461584 54461584 __UNKNOWN__ Intron SNP C C T rs10054014 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:54461584C>T ENST00000381375.2 - 2 272 GPX8_ENST00000506123.1_3'UTR|CDC20B_ENST00000322374.6_Intron|CDC20B_ENST00000331730.3_Intron|CDC20B_ENST00000334206.5_Intron|GPX8_ENST00000296734.6_3'UTR|CDC20B_ENST00000296733.1_Intron Q86Y33 CD20B_HUMAN cell division cycle 20B NA NA kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 19 Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194) LUSC - Lung squamous cell carcinoma(15;0.225) cctgctcctacctctcgccag 0.443 NA C||| 613 0.122404 0.0484 0.0605 5008 , , NA 19210 0.2649 NA 0.1004 False NA ,,, NA NA NA 2504 0.1421 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB086378 CCDS3966.1, CCDS47207.1, CCDS54852.1 5q11.2 2013-01-17 2013-01-17 ENSG00000164287 ENSG00000164287 166979 WD repeat domain containing 24222 protein-coding gene gene with protein product CDC20 cell division cycle 20 homolog B (S. cerevisiae), cell division cycle 20 homolog B (S. cerevisiae) NA Standard NM_152623 NM_152623 NA Approved FLJ37927 uc003jpo.2 Q86Y33 OTTHUMG00000131185 ENST00000381375.2:c.126+6831G>A chr5.hg19:g.54461584C>T NA B7WNV8|B9EGL8|C9J6X8|C9JHE9|C9JKL5|Q86Y31|Q86Y32|Q8IUZ8|Q8N1S1|Q8NG56 hg19 CCDS54852.1 0.02 8.700436 CTAxCTC COVERED NOVEL CDC20B-004 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000369715.1 3 14.74817 KEEP 0 0 0 49 1743 CC 1 1 0 - 7 60 259 0 0 15.902738 204 60 7606 324 ENST00000381375.2 0.033175 1 CDC20B 166979 __UNKNOWN__ __UNKNOWN__ 5 54461990 54461990 __UNKNOWN__ Intron SNP A A G rs3747725 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:54461990A>G ENST00000381375.2 - 2 272 GPX8_ENST00000506123.1_3'UTR|CDC20B_ENST00000322374.6_Intron|CDC20B_ENST00000331730.3_Intron|CDC20B_ENST00000334206.5_Intron|GPX8_ENST00000296734.6_3'UTR|CDC20B_ENST00000296733.1_Intron Q86Y33 CD20B_HUMAN cell division cycle 20B NA NA kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 19 Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194) LUSC - Lung squamous cell carcinoma(15;0.225) TCACGTTAGGAGCATGAGCAG 0.532 NA G||| 614 0.122604 0.0492 0.0605 5008 , , NA 21352 0.2649 NA 0.1004 False NA ,,, NA NA NA 2504 0.1421 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB086378 CCDS3966.1, CCDS47207.1, CCDS54852.1 5q11.2 2013-01-17 2013-01-17 ENSG00000164287 ENSG00000164287 166979 WD repeat domain containing 24222 protein-coding gene gene with protein product CDC20 cell division cycle 20 homolog B (S. cerevisiae), cell division cycle 20 homolog B (S. cerevisiae) NA Standard NM_152623 NM_152623 NA Approved FLJ37927 uc003jpo.2 Q86Y33 OTTHUMG00000131185 ENST00000381375.2:c.126+6425T>C chr5.hg19:g.54461990A>G NA B7WNV8|B9EGL8|C9J6X8|C9JHE9|C9JKL5|Q86Y31|Q86Y32|Q8IUZ8|Q8N1S1|Q8NG56 hg19 CCDS54852.1 0.02 8.341835 AGGxGCA COVERED NOVEL CDC20B-004 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000369715.1 0 12.037041 KEEP 0 0 0 40 1282 AA 1 1 0 - 8 60 291 0 0 18.034391 210 60 7674 313 ENST00000381375.2 0.036697 1 CDC20B 166979 __UNKNOWN__ __UNKNOWN__ 5 54462934 54462934 __UNKNOWN__ Intron SNP G G A rs12657420 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:54462934G>A ENST00000381375.2 - 2 272 CDC20B_ENST00000322374.6_Intron|CDC20B_ENST00000331730.3_Intron|CDC20B_ENST00000334206.5_Intron|CDC20B_ENST00000296733.1_Intron Q86Y33 CD20B_HUMAN cell division cycle 20B NA NA kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 19 Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194) LUSC - Lung squamous cell carcinoma(15;0.225) TTCAGCTGTCGTTCTTGTGAA 0.368 NA g||| 614 0.122604 0.0484 0.0605 5008 , , NA 21091 0.2649 NA 0.1004 False NA ,,, NA NA NA 2504 0.1431 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB086378 CCDS3966.1, CCDS47207.1, CCDS54852.1 5q11.2 2013-01-17 2013-01-17 ENSG00000164287 ENSG00000164287 166979 WD repeat domain containing 24222 protein-coding gene gene with protein product CDC20 cell division cycle 20 homolog B (S. cerevisiae), cell division cycle 20 homolog B (S. cerevisiae) NA Standard NM_152623 NM_152623 NA Approved FLJ37927 uc003jpo.2 Q86Y33 OTTHUMG00000131185 ENST00000381375.2:c.126+5481C>T chr5.hg19:g.54462934G>A NA B7WNV8|B9EGL8|C9J6X8|C9JHE9|C9JKL5|Q86Y31|Q86Y32|Q8IUZ8|Q8N1S1|Q8NG56 hg19 CCDS54852.1 0.02 4.047647 GTCxTTC COVERED NOVEL CDC20B-004 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000369715.1 11 17.791659 KEEP 0 1 31 70 2411 GG 1 1 0 - 7 60 241 0 0 15.378482 133 60 4916 236 ENST00000381375.2 0.05 1 SKIV2L2 23517 __UNKNOWN__ __UNKNOWN__ 5 54719154 54719154 __UNKNOWN__ Intron SNP A A G rs183138786 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:54719154A>G ENST00000230640.5 + 26 3330 SKIV2L2_ENST00000545714.1_Intron NM_015360.4 NP_056175.3 P42285 SK2L2_HUMAN superkiller viralicidic activity 2-like 2 (S. cerevisiae) NA NA maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398) catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634) ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822) NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194) tcagatggtgataagtctgta 0.403 NA A||| 9 0.00179712 0.0 0.0 5008 , , NA 19898 0.0089 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA Melanoma(2;92 134 23744 29976 33782) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D29641 CCDS3967.1 5q11.2 2008-11-25 2005-02-18 2005-02-18 ENSG00000039123 ENSG00000039123 23517 18734 protein-coding gene gene with protein product functional spliceosome-associated protein 118 KIAA0052 KIAA0052 NA Standard NM_015360 NA Approved Mtr4, Dob1, fSAP118 uc003jpy.4 P42285 OTTHUMG00000097019 ENST00000230640.5:c.3076+344A>G chr5.hg19:g.54719154A>G NA Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2 hg19 CCDS3967.1 0.02 6.320746 GTGxTAA COVERED NOVEL SKIV2L2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000214108.1 0 10.230486 KEEP 0 0 0 34 1066 AA 0.999998 0.999998 0 + 8 60 288 0 0 18.497667 168 60 6055 235 ENST00000230640.5 0.045455 1 DDX4 54514 __UNKNOWN__ __UNKNOWN__ 5 55062764 55062764 __UNKNOWN__ Intron SNP T T C rs13181170 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:55062764T>C ENST00000505374.1 + 7 426 DDX4_ENST00000511853.1_Missense_Mutation_p.S3P|DDX4_ENST00000508580.1_Intron|SLC38A9_ENST00000504880.1_Intron|DDX4_ENST00000354991.5_Intron|DDX4_ENST00000514278.2_Intron|DDX4_ENST00000353507.5_Intron NM_024415.2 NP_077726.1 Q9NQI0 DDX4_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 NA NA male meiosis I (GO:0007141)|multicellular organismal development (GO:0007275)|regulation of protein localization (GO:0032880)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283) chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pi-body (GO:0071546)|piP-body (GO:0071547) ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676) p.S3P(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2) 24 Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223) gggaatggggtctaggaattt 0.333 NA C||| 1840 0.367412 0.4259 0.5072 5008 , , NA 16859 0.4623 NA 0.2525 False NA ,,, NA NA NA 2504 0.2096 NA NA NA NA 1 Substitution - Missense(1) endometrium(1) 60 57 58 NA NA 5 NA 55062764 692 1588 2280 SO:0001627 intron_variant AF262962 CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1 5p15.2-p13.1 2008-02-05 2003-06-13 ENSG00000152670 ENSG00000152670 54514 DEAD-boxes 18700 protein-coding gene gene with protein product 605281 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4 NA 10920202, 11850529 Standard NM_024415 NM_001142549 NA Approved VASA uc003jqg.4 Q9NQI0 OTTHUMG00000097044 ENST00000505374.1:c.335-945T>C chr5.hg19:g.55062764T>C NA A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1 hg19 CCDS3969.1 0.02 26.760286 GGGxCTA COVERED 818 0.37454212454212454 218 0.44308943089430897 152 0.4198895027624309 258 0.45104895104895104 190 0.25065963060686014 C 5.203 0.223010 0.09863 . . ENSG00000152670 ENST00000511853 T 0.22336 1.96 3.63 -2.86 0.05717 . . . . . T 0.00012 0.0000 N 0.08118 0 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.47886 -0.9082 8 0.32370 T 0.25 . 6.1767 0.20447 0.0:0.238:0.149:0.613 rs13181170;rs13181170 3 E9PCD8 . P 3 ENSP00000423123:S3P ENSP00000423123:S3P S + 1 0 DDX4 55098521 0.000000 0.05858 0.000000 0.03702 0.002000 0.02628 -0.985000 0.03751 -1.031000 0.03308 -0.964000 0.02622 TCT NOVEL DDX4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000214147.2 4 15.046647 KEEP 0 0 0 50 1640 TT 1 1 0 + 27 60 1013 0 0 65.456126 621 60 21883 869 ENST00000505374.1 0.041667 1 DDX4 54514 __UNKNOWN__ __UNKNOWN__ 5 55062915 55062915 __UNKNOWN__ Intron SNP C C G rs12652234 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:55062915C>G ENST00000505374.1 + 7 426 DDX4_ENST00000511853.1_Intron|DDX4_ENST00000508580.1_Intron|SLC38A9_ENST00000504880.1_Intron|DDX4_ENST00000354991.5_Intron|DDX4_ENST00000514278.2_Intron|DDX4_ENST00000353507.5_Intron NM_024415.2 NP_077726.1 Q9NQI0 DDX4_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 NA NA male meiosis I (GO:0007141)|multicellular organismal development (GO:0007275)|regulation of protein localization (GO:0032880)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283) chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pi-body (GO:0071546)|piP-body (GO:0071547) ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2) 24 Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223) ATTTCATTAGCATGAATGGGG 0.343 NA G||| 1840 0.367412 0.4259 0.5072 5008 , , NA 18367 0.4623 NA 0.2525 False NA ,,, NA NA NA 2504 0.2096 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF262962 CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1 5p15.2-p13.1 2008-02-05 2003-06-13 ENSG00000152670 ENSG00000152670 54514 DEAD-boxes 18700 protein-coding gene gene with protein product 605281 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4 NA 10920202, 11850529 Standard NM_024415 NM_001142549 NA Approved VASA uc003jqg.4 Q9NQI0 OTTHUMG00000097044 ENST00000505374.1:c.335-794C>G chr5.hg19:g.55062915C>G NA A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1 hg19 CCDS3969.1 0.02 9.278586 TAGxATG COVERED NOVEL DDX4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000214147.2 2 4.213728 KEEP 0 0 0 14 492 CC 0.995343 0.995343 0 + 7 60 271 0 0 17.250679 194 60 7303 222 ENST00000505374.1 0.034826 1 DDX4 54514 __UNKNOWN__ __UNKNOWN__ 5 55082474 55082474 __UNKNOWN__ Silent SNP C C T rs957459 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:55082474C>T ENST00000505374.1 + 14 1085 c.993C>T c.(991-993)tgC>tgT p.C331C DDX4_ENST00000511853.1_Silent_p.C182C|DDX4_ENST00000354991.5_Silent_p.C297C|DDX4_ENST00000514278.2_Silent_p.C311C|DDX4_ENST00000353507.5_Silent_p.C297C NM_024415.2 NP_077726.1 Q9NQI0 DDX4_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 331 Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}. NA male meiosis I (GO:0007141)|multicellular organismal development (GO:0007275)|regulation of protein localization (GO:0032880)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283) chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pi-body (GO:0071546)|piP-body (GO:0071547) ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2) 24 Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223) TGATGGCTTGCGCTCAAACAG 0.403 NA T||| 2329 0.465056 0.6339 0.5519 5008 , , NA 18821 0.497 NA 0.3091 False NA ,,, NA NA NA 2504 0.3027 NA NA NA NA 0 T ,,, 2583,1823 532.6+/-373.5 754,1075,374 112 106 108 891,933,546,993 3.9 1 5 dbSNP_86 108 2721,5879 680.3+/-403.6 430,1861,2009 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous DDX4 NM_001142549.1,NM_001166533.1,NM_001166534.1,NM_024415.2 ,,, 1184,2936,2383 TT,TC,CC 31.6395,41.3754,40.7812 ,,, 297/691,311/705,182/576,331/725 55082474 5304,7702 2203 4300 6503 SO:0001819 synonymous_variant AF262962 CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1 5p15.2-p13.1 2008-02-05 2003-06-13 ENSG00000152670 ENSG00000152670 54514 DEAD-boxes 18700 protein-coding gene gene with protein product 605281 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4 NA 10920202, 11850529 Standard NM_024415 NM_001142549 NA Approved VASA uc003jqg.4 Q9NQI0 OTTHUMG00000097044 ENST00000505374.1:c.993C>T chr5.hg19:g.55082474C>T NA A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1 hg19 CCDS3969.1 0.02 10.415781 TTGxGCT COVERED NOVEL DDX4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000214147.2 0 9.932189 KEEP 0 0 0 33 1155 CC 0.999998 0.999998 0 + 12 60 438 0 0 27.875544 276 60 9761 389 ENST00000505374.1 0.041667 1 PLK2 10769 __UNKNOWN__ __UNKNOWN__ 5 57754004 57754004 __UNKNOWN__ Intron SNP C C T rs697135 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:57754004C>T ENST00000274289.3 - 5 926 NM_001252226.1|NM_006622.3 NP_001239155.1|NP_006613.2 Q9NYY3 PLK2_HUMAN polo-like kinase 2 NA NA G1/S transition of mitotic cell cycle (GO:0000082)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|mitotic cell cycle checkpoint (GO:0007093)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|Rap protein signal transduction (GO:0032486)|Ras protein signal transduction (GO:0007265)|regulation of centriole replication (GO:0046599)|regulation of synaptic plasticity (GO:0048167) centriole (GO:0005814)|centrosome (GO:0005813)|dendrite (GO:0030425)|intracellular (GO:0005622) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871) endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2) 26 all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182) OV - Ovarian serous cystadenocarcinoma(10;7.03e-37) GTTCCCTAGACGATAAACAAA 0.428 NA t||| 2115 0.422324 0.6475 0.4265 5008 , , NA 17180 0.2222 NA 0.4523 False NA ,,, NA NA NA 2504 0.2904 NA NA NA NA 0 G 2737,1653 455.3+/-351.0 866,1005,324 92 103 100 -8.4 0 5 dbSNP_86 100 3856,4742 593.8+/-393.2 847,2162,1290 no intron PLK2 NM_006622.2 1713,3167,1614 TT,TC,CC 44.8476,37.6538,49.2378 57754004 6593,6395 2195 4299 6494 SO:0001627 intron_variant CCDS3974.1, CCDS75250.1 5q12.1-q13.2 2013-01-18 2010-06-24 ENSG00000145632 ENSG00000145632 10769 19699 protein-coding gene gene with protein product serum-inducible kinase 607023 polo-like kinase 2 (Drosophila) NA Standard NM_006622 NM_006622 NA Approved SNK uc003jrn.3 Q9NYY3 OTTHUMG00000097047 ENST00000274289.3:c.626-6G>A chr5.hg19:g.57754004C>T NA O60679|Q96CV7|Q9UE61 hg19 CCDS3974.1 0.02 21.294303 AGAxGAT COVERED NOVEL PLK2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000214150.1 1 40.270135 KEEP 0 4 126 178 6274 CC 1 1 0 - 16 60 582 0 0 35.09769 484 60 17756 855 ENST00000274289.3 0.032 1 RAB3C 115827 __UNKNOWN__ __UNKNOWN__ 5 57913379 57913379 __UNKNOWN__ Intron SNP A A G rs2279980 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:57913379A>G ENST00000282878.4 + 2 193 NM_138453.2 NP_612462.1 Q96E17 RAB3C_HUMAN RAB3C, member RAS oncogene family NA NA antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|vesicle (GO:0031982) GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1) 21 all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664) OV - Ovarian serous cystadenocarcinoma(10;1.8e-34) GTTTCTGGCAAGGCCAATAAT 0.433 NA NA NA NA NA NA NA NA NA NA NA 0 A 792,960 181,430,265 42 41 41 1.1 0.7 5 dbSNP_100 41 818,3164 83,652,1256 no intron RAB3C NM_138453.2 264,1082,1521 GG,GA,AA 20.5424,45.2055,28.0781 57913379 1610,4124 876 1991 2867 SO:0001627 intron_variant AY026936 CCDS3976.1 5q13 2008-02-05 ENSG00000152932 ENSG00000152932 115827 RAB, member RAS oncogene 30269 protein-coding gene gene with protein product 612829 NA 12296628 Standard NM_138453 NM_138453 NA Approved uc003jrp.3 Q96E17 OTTHUMG00000097053 ENST00000282878.4:c.25-91A>G chr5.hg19:g.57913379A>G NA hg19 CCDS3976.1 0.02 7.768107 GCAxGGC COVERED NOVEL RAB3C-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000214156.2 1 3.308967 KEEP 0 0 0 11 349 AA 0.993072 0.993072 0 + 11 60 404 0 0 28.443391 148 60 5306 206 ENST00000282878.4 0.069182 1 ELOVL7 79993 __UNKNOWN__ __UNKNOWN__ 5 60048028 60048028 __UNKNOWN__ 3'UTR SNP G G A rs16878354 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:60048028G>A ENST00000505959.1 - 0 3756 ELOVL7_ENST00000508821.1_3'UTR|ELOVL7_ENST00000425382.1_3'UTR|ELOVL7_ENST00000438340.1_3'UTR A1L3X0 ELOV7_HUMAN ELOVL fatty acid elongase 7 NA NA cellular lipid metabolic process (GO:0044255)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) transferase activity (GO:0016740) endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1) 9 Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481) CATATCCAGTGAAAATCATTT 0.363 NA G||| 618 0.123403 0.146 0.0562 5008 , , NA 15292 0.2054 NA 0.0219 False NA ,,, NA NA NA 2504 0.1605 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK027216 CCDS34164.1 5q12 2011-05-25 2011-05-25 ENSG00000164181 79993 26292 protein-coding gene gene with protein product 614451 ELOVL family member 7, elongation of long chain fatty acids (yeast) NA 19826053 Standard NM_024930 NA Approved FLJ23563 uc010iwk.3 A1L3X0 ENST00000505959.1:c.*2423C>T chr5.hg19:g.60048028G>A NA Q589T3|Q9H5D0|Q9NT66 hg19 0.02 8.568951 AGTxAAA COVERED NOVEL ELOVL7-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000368196.1 0 10.533958 KEEP 0 0 0 35 1212 GG 0.999999 0.999999 0 - 14 60 498 1 0 33.689928 212 60 8093 316 ENST00000505959.1 0.061947 1 ELOVL7 79993 __UNKNOWN__ __UNKNOWN__ 5 60063576 60063576 __UNKNOWN__ Intron SNP G G A rs1460958 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:60063576G>A ENST00000505959.1 - 7 824 ELOVL7_ENST00000508821.1_Intron|ELOVL7_ENST00000425382.1_Intron|ELOVL7_ENST00000438340.1_Intron A1L3X0 ELOV7_HUMAN ELOVL fatty acid elongase 7 NA NA cellular lipid metabolic process (GO:0044255)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) transferase activity (GO:0016740) endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1) 9 Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481) CTAAGTTTACGTTCAGTGTTA 0.318 NA A||| 3355 0.669928 0.9228 0.5216 5008 , , NA 17106 0.4335 NA 0.5895 False NA ,,, NA NA NA 2504 0.7597 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK027216 CCDS34164.1 5q12 2011-05-25 2011-05-25 ENSG00000164181 79993 26292 protein-coding gene gene with protein product 614451 ELOVL family member 7, elongation of long chain fatty acids (yeast) NA 19826053 Standard NM_024930 NA Approved FLJ23563 uc010iwk.3 A1L3X0 ENST00000505959.1:c.297+73C>T chr5.hg19:g.60063576G>A NA Q589T3|Q9H5D0|Q9NT66 hg19 0.02 4.37912 TACxTTC COVERED NOVEL ELOVL7-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000368196.1 1 2.407305 KEEP 0 0 0 8 252 GG 0.99257 0.99257 0 - 53 60 1876 0 0 175.895417 72 60 2282 136 ENST00000505959.1 0.424 0.999999 NDUFAF2 91942 __UNKNOWN__ __UNKNOWN__ 5 60448773 60448773 __UNKNOWN__ Missense_Mutation SNP C C A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:60448773C>A ENST00000296597.5 + 4 628 c.501C>A c.(499-501)caC>caA p.H167Q NDUFAF2_ENST00000511107.1_3'UTR|NDUFAF2_ENST00000512623.1_3'UTR NM_174889.4 NP_777549.1 Q8N183 MIMIT_HUMAN NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 167 NA negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904) mitochondrion (GO:0005739) NADH dehydrogenase (ubiquinone) activity (GO:0008137) central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1) 6 Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237) GCAAGAGCCACAATCAATGAA 0.398 NA NA NA NA NA NA NA NA NA NA NA 0 35 30 32 NA NA 5 NA 60448773 2203 4300 6503 SO:0001583 missense AB183433 CCDS3979.1 5q12.1 2012-10-12 2012-05-08 2008-02-15 ENSG00000164182 ENSG00000164182 91942 Mitochondrial respiratory chain complex assembly factors 28086 protein-coding gene gene with protein product Myc-induced mitochondrial protein 609653 NDUFA12-like, NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 2 NDUFA12L NA 15774466, 16200211, 17383918 Standard NM_174889 NM_174889 NA Approved B17.2L, MMTN, mimitin uc003jsp.4 Q8N183 OTTHUMG00000131221 ENST00000296597.5:c.501C>A chr5.hg19:g.60448773C>A ENSP00000296597:p.His167Gln NA A8K5I1 hg19 CCDS3979.1 0.02 12.556932 CCAxAAT COVERED . . . . . . . . . . C 0.006 -2.044240 0.00398 . . ENSG00000164182 ENST00000296597 T 0.61392 0.11 5.03 -3.79 0.04320 . 1.325810 0.04695 N 0.414954 T 0.27349 0.0671 N 0.04203 -0.255 0.09310 N 0.999996 B 0.02656 0.0 B 0.01281 0.0 T 0.17837 -1.0356 10 0.08381 T 0.77 . 5.0796 0.14649 0.6057:0.1522:0.1668:0.0752 . 167 Q8N183 MIMIT_HUMAN Q 167 ENSP00000296597:H167Q ENSP00000296597:H167Q H + 3 2 NDUFAF2 60484530 0.000000 0.05858 0.002000 0.10522 0.259000 0.26198 -0.278000 0.08490 -0.632000 0.05553 0.650000 0.86243 CAC NOVEL NDUFAF2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253965.1 2 15.936214 KEEP 0 0 0 53 1851 CC 1 1 0 + 12 60 410 0 0 24.819603 304 60 11466 451 ENST00000296597.5 0.037975 1 C5orf64 285668 __UNKNOWN__ __UNKNOWN__ 5 60981850 60981850 __UNKNOWN__ Intron SNP T T C rs16893680 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:60981850T>C ENST00000505642.1 + 3 112 C5orf64_ENST00000313303.7_Intron|RP11-2O17.2_ENST00000513386.1_RNA|RP11-2O17.2_ENST00000505623.1_RNA|C5orf64_ENST00000510414.1_Intron|RP11-2O17.2_ENST00000507264.1_RNA NM_173667.2 NP_775938.1 Q2M2E5 CE064_HUMAN chromosome 5 open reading frame 64 NA NA extracellular region (GO:0005576) breast(1) 1 AGAGGTATTTTGGCCTCCTTC 0.383 NA C||| 1455 0.290535 0.0968 0.3444 5008 , , NA 19946 0.5446 NA 0.2406 False NA ,,, NA NA NA 2504 0.3037 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS54860.1 5q12.1 2014-02-12 2011-05-05 ENSG00000178722 ENSG00000178722 285668 26744 protein-coding gene gene with protein product NA Standard NM_173667 NM_173667 NA Approved FLJ37543 uc003jst.1 Q2M2E5 OTTHUMG00000162412 ENST00000505642.1:c.38-860T>C chr5.hg19:g.60981850T>C NA Q2M2H1|Q8N1U8 hg19 CCDS54860.1 0.02 9.660818 TTTxGGC COVERED NOVEL C5orf64-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000368790.1 1 6.917046 KEEP 0 0 0 23 659 TT 0.999892 0.999892 0 + 13 60 493 0 0 34.502094 191 60 6860 250 ENST00000505642.1 0.063725 1 DIMT1 27292 __UNKNOWN__ __UNKNOWN__ 5 61697859 61697859 __UNKNOWN__ Intron SNP C C T rs27089 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:61697859C>T ENST00000199320.4 - 3 401 KIF2A_ENST00000509663.2_Intron|DIMT1_ENST00000506390.1_Intron NM_014473.2 NP_055288.1 Q9UNQ2 DIM1_HUMAN DIM1 dimethyladenosine transferase 1 homolog (S. cerevisiae) NA NA cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634) 18S rRNA (adenine(1779)-N(6)/adenine(1780)-N(6))-dimethyltransferase activity (GO:0052909)|poly(A) RNA binding (GO:0044822)|rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179) NA AATCCCCTTTCTACCTTTTTT 0.353 NA T||| 2764 0.551917 0.5719 0.5043 5008 , , NA 21618 0.6766 NA 0.5129 False NA ,,, NA NA NA 2504 0.4703 NA NA NA NA 0 T 2495,1911 546.0+/-376.9 701,1093,409 149 145 147 -0.5 0.2 5 dbSNP_76 147 4362,4238 572.5+/-389.7 1115,2132,1053 no intron DIMT1 NM_014473.2 1816,3225,1462 TT,TC,CC 49.2791,43.3727,47.2782 61697859 6857,6149 2203 4300 6503 SO:0001627 intron_variant AF102147 CCDS3981.1 5q12.1 2011-08-11 2011-08-11 2011-08-11 ENSG00000086189 ENSG00000086189 27292 30217 protein-coding gene gene with protein product 612499 DIM1 dimethyladenosine transferase 1-like (S. cerevisiae) DIMT1L NA 11124703 Standard NM_014473 NM_014473 NA Approved HSA9761 uc003jta.3 Q9UNQ2 OTTHUMG00000131223 ENST00000199320.4:c.240+3G>A chr5.hg19:g.61697859C>T NA O76025|Q9BU77|Q9UES1 hg19 CCDS3981.1 0.02 14.395673 TTTxTAC COVERED NOVEL DIMT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253967.1 1 27.98857 KEEP 0 0 0 93 3167 CC 1 1 0 - 10 60 369 0 0 21.507968 378 60 14226 560 ENST00000199320.4 0.025773 1 RGS7BP 401190 __UNKNOWN__ __UNKNOWN__ 5 63905350 63905350 __UNKNOWN__ 3'UTR SNP T T A rs10939996 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:63905350T>A ENST00000334025.2 + 0 1371 NM_001029875.1|NM_001271890.1|NM_001271891.1 NP_001025046.1|NP_001258819.1|NP_001258820.1 Q6MZT1 R7BP_HUMAN regulator of G-protein signaling 7 binding protein NA NA G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of signal transduction (GO:0009968) cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886) breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1) 11 Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186) Lung(70;0.147) AACCACGCCATGACAGATGCA 0.303 NA T||| 715 0.142772 0.0605 0.2003 5008 , , NA 16410 0.1915 NA 0.1461 False NA ,,, NA NA NA 2504 0.1595 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BX640900 CCDS34170.1 5q12.3 2008-02-05 2007-08-14 ENSG00000186479 ENSG00000186479 401190 23271 protein-coding gene gene with protein product 610890 regulator of G-protein signalling 7 binding protein NA 15632198 Standard NM_001029875 NM_001271890 NA Approved R7BP uc003jtj.4 Q6MZT1 OTTHUMG00000162293 ENST00000334025.2:c.*271T>A chr5.hg19:g.63905350T>A NA B7Z3X1 hg19 CCDS34170.1 0.02 2.21771 CCAxGAC COVERED NOVEL RGS7BP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000368464.1 0 6.620479 KEEP 0 0 0 22 708 TT 0.999879 0.993582 0 + 4 60 153 0 0 10.684943 61 60 2201 111 ENST00000334025.2 0.061538 0.993703 SREK1IP1 285672 __UNKNOWN__ __UNKNOWN__ 5 64064411 64064411 __UNKNOWN__ 5'UTR SNP G G C rs3756739 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:64064411G>C ENST00000513458.4 - 0 101 SREK1IP1_ENST00000506252.1_5'UTR NM_173829.3 NP_776190.1 Q8N9Q2 SR1IP_HUMAN SREK1-interacting protein 1 NA NA mRNA processing (GO:0006397)|RNA splicing (GO:0008380) nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270) breast(1)|endometrium(1)|large_intestine(3)|ovary(1) 6 CGCCAGCTGTGAGAACAAGGC 0.607 NA G||| 1213 0.242212 0.174 0.1037 5008 , , NA 17891 0.5099 NA 0.1302 False NA ,,, NA NA NA 2504 0.272 NA NA NA NA 0 G 252,1132 19,214,459 35 37 36 0.8 0 5 dbSNP_107 36 432,2750 30,372,1189 no utr-5 SREK1IP1 NM_173829.3 49,586,1648 CC,CG,GG 13.5764,18.2081,14.9803 64064411 684,3882 692 1591 2283 SO:0001623 5_prime_UTR_variant AK094073 CCDS34171.1 5q12.3 2010-09-20 2010-09-20 2010-09-20 ENSG00000153006 ENSG00000153006 285672 26716 protein-coding gene gene with protein product p18 splicing regulatory protein SFRS12-interacting protein 1 SFRS12IP1 NA 15456940 Standard NM_173829 NM_173829 NA Approved FLJ36754, P18SRP uc003jtk.3 Q8N9Q2 OTTHUMG00000162291 ENST00000513458.4:c.-67C>G chr5.hg19:g.64064411G>C NA Q32NC8 hg19 CCDS34171.1 0.02 9.628501 TGTxAGA COVERED NOVEL SREK1IP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000368457.4 1 35.514811 KEEP 0 0 0 118 4158 GG 1 1 0 - 12 60 452 0 0 30.729688 207 60 7913 426 ENST00000513458.4 0.054795 1 CWC27 10283 __UNKNOWN__ __UNKNOWN__ 5 64064943 64064943 __UNKNOWN__ 5'UTR SNP G G A rs1363953 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:64064943G>A ENST00000508024.1 + 0 171 CWC27_ENST00000381070.3_5'UTR Q6UX04 CWC27_HUMAN CWC27 spliceosome-associated protein homolog (S. cerevisiae) NA NA mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457) catalytic step 2 spliceosome (GO:0071013) peptidyl-prolyl cis-trans isomerase activity (GO:0003755) breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1) 21 CTCATCCCCCGTAAGGAGCAG 0.537 NA A||| 2310 0.461262 0.848 0.2003 5008 , , NA 18277 0.5357 NA 0.1779 False NA ,,, NA NA NA 2504 0.3384 NA NA NA NA 0 A 3225,1181 413.9+/-336.6 1205,815,183 45 48 47 -2.8 0 5 dbSNP_88 47 1573,7027 744.1+/-407.2 154,1265,2881 no utr-5 CWC27 NM_005869.2 1359,2080,3064 AA,AG,GG 18.2907,26.8044,36.8907 64064943 4798,8208 2203 4300 6503 SO:0001623 5_prime_UTR_variant AF039692 CCDS3982.2, CCDS75252.1 5q12.3 2010-01-26 2010-01-26 2010-01-26 ENSG00000153015 ENSG00000153015 10283 10664 protein-coding gene gene with protein product serologically defined colon cancer antigen 10 SDCCAG10 NA 9610721, 19941820 Standard NM_005869 XM_005248399 NA Approved NY-CO-10 uc003jtn.1 Q6UX04 OTTHUMG00000074069 ENST00000508024.1:c.-31G>A chr5.hg19:g.64064943G>A NA O60529|O60530|Q96EM3 hg19 0.02 4.643405 CCCxTAA COVERED NOVEL CWC27-005 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000368753.1 0 21.666523 KEEP 0 0 0 72 2401 GG 1 1 0 + 8 60 301 0 0 20.896652 121 60 4239 238 ENST00000508024.1 0.062016 1 CENPK 64105 __UNKNOWN__ __UNKNOWN__ 5 64814175 64814175 __UNKNOWN__ 3'UTR SNP T T G rs11952932 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:64814175T>G ENST00000396679.1 - 0 1151 CENPK_ENST00000510693.1_3'UTR|CENPK_ENST00000508421.1_3'UTR|CENPK_ENST00000242872.3_3'UTR|CENPK_ENST00000514814.1_3'UTR NM_022145.4 NP_071428.2 Q9BS16 CENPK_HUMAN centromere protein K NA NA CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944) cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654) breast(1)|endometrium(1)|large_intestine(3)|lung(5) 10 Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186) Lung(70;0.00466) ACATGCCATTTTGCAATAAAA 0.308 NA T||| 413 0.0824681 0.1316 0.0389 5008 , , NA 15842 0.0883 NA 0.0179 False NA ,,, NA NA NA 2504 0.1074 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC008504 CCDS3984.1 5q12.3 2013-11-05 ENSG00000123219 ENSG00000123219 64105 29479 protein-coding gene gene with protein product 611502 NA 8950979 Standard NM_022145 NM_022145 NA Approved FKSG14, SOLT, CENP-K uc003jtu.3 Q9BS16 OTTHUMG00000131227 ENST00000396679.1:c.*127A>C chr5.hg19:g.64814175T>G NA Q9H4L0 hg19 CCDS3984.1 0.02 11.581701 ATTxTGC COVERED NOVEL CENPK-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253971.2 1 6.918715 KEEP 0 0 0 23 680 TT 0.999892 0.999892 0 - 11 60 421 0 0 27.209079 269 70 9462 313 ENST00000396679.1 0.039286 1 CENPK 64105 __UNKNOWN__ __UNKNOWN__ 5 64838584 64838584 __UNKNOWN__ Intron SNP G G A rs6891597 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:64838584G>A ENST00000396679.1 - 6 503 CENPK_ENST00000510693.1_Intron|CENPK_ENST00000508421.1_Intron|CENPK_ENST00000242872.3_Intron|CENPK_ENST00000506282.2_Intron|CENPK_ENST00000514814.1_Intron NM_022145.4 NP_071428.2 Q9BS16 CENPK_HUMAN centromere protein K NA NA CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944) cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654) breast(1)|endometrium(1)|large_intestine(3)|lung(5) 10 Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186) Lung(70;0.00466) AATAGATCTAGTTAGAAATTA 0.294 NA G||| 2380 0.47524 0.3956 0.5202 5008 , , NA 15974 0.6766 NA 0.3996 False NA ,,, NA NA NA 2504 0.4213 NA NA NA NA 0 G 1767,2637 513.7+/-368.4 356,1055,791 61 63 63 -2.4 0 5 dbSNP_116 63 3194,5406 477.1+/-369.6 589,2016,1695 no intron CENPK NM_022145.3 945,3071,2486 AA,AG,GG 37.1395,40.1226,38.1498 64838584 4961,8043 2202 4300 6502 SO:0001627 intron_variant BC008504 CCDS3984.1 5q12.3 2013-11-05 ENSG00000123219 ENSG00000123219 64105 29479 protein-coding gene gene with protein product 611502 NA 8950979 Standard NM_022145 NM_022145 NA Approved FKSG14, SOLT, CENP-K uc003jtu.3 Q9BS16 OTTHUMG00000131227 ENST00000396679.1:c.288+44C>T chr5.hg19:g.64838584G>A NA Q9H4L0 hg19 CCDS3984.1 0.02 2.127553 CTAxTTA COVERED NOVEL CENPK-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253971.2 1 3.912371 KEEP 0 0 0 13 444 GG 0.994391 0.994339 0 - 4 60 157 0 0 10.352427 94 60 3648 137 ENST00000396679.1 0.040816 0.999948 PPWD1 23398 __UNKNOWN__ __UNKNOWN__ 5 64863389 64863389 __UNKNOWN__ Missense_Mutation SNP G G A rs188720458 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:64863389G>A ENST00000261308.5 + 2 318 c.246G>A c.(244-246)atG>atA p.M82I PPWD1_ENST00000538977.1_Intron|PPWD1_ENST00000535264.1_Missense_Mutation_p.M52I NM_015342.3 NP_056157.1 Q96BP3 PPWD1_HUMAN peptidylprolyl isomerase domain and WD repeat containing 1 82 NA mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457) catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634) peptidyl-prolyl cis-trans isomerase activity (GO:0003755) breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1) 19 Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186) Lung(70;0.00451) GTGCATCCATGTATGAGCGCA 0.318 NA G||| 6 0.00119808 0.0 0.0 5008 , , NA 15631 0.005 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 107 110 109 NA NA 5 NA 64863389 2203 4300 6503 SO:0001583 missense AK025679 CCDS3985.1, CCDS64161.1, CCDS64162.1 5q12.3 2013-01-09 ENSG00000113593 ENSG00000113593 23398 WD repeat domain containing 28954 protein-coding gene gene with protein product NA 7584044 Standard NM_015342 NM_015342 NA Approved KIAA0073 uc003jtv.5 Q96BP3 OTTHUMG00000131226 ENST00000261308.5:c.246G>A chr5.hg19:g.64863389G>A ENSP00000261308:p.Met82Ile NA B4DWR9|Q15002|Q7KZ89 hg19 CCDS3985.1 0.02 15.664791 CATxTAT COVERED 1 4.578754578754579E-4 0 0.0 0 0.0 1 0.0017482517482517483 0 0.0 G 22.4 4.290365 0.80914 . . ENSG00000113593 ENST00000261308;ENST00000535264;ENST00000505380 T;T;D 0.88664 0.07;0.28;-2.41 5.62 5.62 0.85841 . 0.000000 0.85682 D 0.000000 D 0.89339 0.6687 M 0.76170 2.325 0.80722 D 1 B;B 0.34103 0.437;0.31 B;B 0.34093 0.175;0.085 D 0.87546 0.2462 10 0.34782 T 0.22 . 19.6517 0.95819 0.0:0.0:1.0:0.0 . 52;82 F5H7P7;Q96BP3 .;PPWD1_HUMAN I 82;52;1 ENSP00000261308:M82I;ENSP00000442371:M52I;ENSP00000423234:M1I ENSP00000261308:M82I M + 3 0 PPWD1 64899145 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 9.837000 0.99465 2.662000 0.90505 0.655000 0.94253 ATG NOVEL PPWD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253970.2 3 28.593789 KEEP 0 0 0 95 3410 GG 1 1 0 + 14 60 529 0 0 33.902203 345 60 13414 609 ENST00000261308.5 0.038997 1 PPWD1 23398 __UNKNOWN__ __UNKNOWN__ 5 64865848 64865848 __UNKNOWN__ Intron SNP A A G rs3752674 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:64865848A>G ENST00000261308.5 + 4 593 PPWD1_ENST00000538977.1_Intron|PPWD1_ENST00000535264.1_Intron NM_015342.3 NP_056157.1 Q96BP3 PPWD1_HUMAN peptidylprolyl isomerase domain and WD repeat containing 1 NA NA mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457) catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634) peptidyl-prolyl cis-trans isomerase activity (GO:0003755) breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1) 19 Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186) Lung(70;0.00451) AAAAGTATATATATTTTAACT 0.284 NA A||| 396 0.0790735 0.1112 0.0418 5008 , , NA 14470 0.0893 NA 0.0209 False NA ,,, NA NA NA 2504 0.1115 NA NA NA NA 0 A 445,3929 25,395,1767 37 37 37 0.8 0 5 dbSNP_107 37 181,8405 2,177,4114 no intron PPWD1 NM_015342.2 27,572,5881 GG,GA,AA 2.1081,10.1738,4.8302 64865848 626,12334 2187 4293 6480 SO:0001627 intron_variant AK025679 CCDS3985.1, CCDS64161.1, CCDS64162.1 5q12.3 2013-01-09 ENSG00000113593 ENSG00000113593 23398 WD repeat domain containing 28954 protein-coding gene gene with protein product NA 7584044 Standard NM_015342 NM_015342 NA Approved KIAA0073 uc003jtv.5 Q96BP3 OTTHUMG00000131226 ENST00000261308.5:c.521+23A>G chr5.hg19:g.64865848A>G NA B4DWR9|Q15002|Q7KZ89 hg19 CCDS3985.1 0.02 6.319644 TATxTAT COVERED NOVEL PPWD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253970.2 1 14.139525 KEEP 0 0 0 47 1429 AA 1 1 0 + 8 60 299 0 0 19.58761 168 60 6168 254 ENST00000261308.5 0.045455 1 TRIM23 373 __UNKNOWN__ __UNKNOWN__ 5 64892939 64892939 __UNKNOWN__ Silent SNP T T G rs33945461 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:64892939T>G ENST00000231524.9 - 8 1619 c.1248A>C c.(1246-1248)ggA>ggC p.G416G TRIM23_ENST00000274327.7_Silent_p.G416G|TRIM23_ENST00000381018.3_Silent_p.G416G NM_001656.3 NP_001647.1 P36406 TRI23_HUMAN tripartite motif containing 23 416 ARF-like. NA GTP catabolic process (GO:0006184)|positive regulation of catalytic activity (GO:0043085)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032) extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634) enzyme activator activity (GO:0008047)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 28 Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234) Lung(70;0.00473) TAGTAGTTTTTCCAGCACCAT 0.328 NA T||| 395 0.0788738 0.1104 0.0418 5008 , , NA 19310 0.0893 NA 0.0209 False NA ,,, NA NA NA 2504 0.1115 NA NA NA NA 0 T ,, 441,3965 213.5+/-233.1 20,401,1782 117 114 115 1248,1248,1248 -0.8 1 5 dbSNP_126 115 181,8419 81.5+/-144.1 2,177,4121 no coding-synonymous,coding-synonymous,coding-synonymous TRIM23 NM_001656.3,NM_033227.2,NM_033228.2 ,, 22,578,5903 GG,GT,TT 2.1047,10.0091,4.7824 ,, 416/575,416/570,416/547 64892939 622,12384 2203 4300 6503 SO:0001819 synonymous_variant L04510 CCDS3986.1, CCDS3987.1, CCDS43322.1 5q12.3 2013-01-09 2011-01-25 2004-06-04 ENSG00000113595 ENSG00000113595 373 Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers 660 protein-coding gene gene with protein product 601747 ADP-ribosylation factor domain protein 1, 64kDa, tripartite motif-containing 23 ARFD1 NA 8473324 Standard NM_001656 NM_001656 NA Approved ARD1, RNF46 uc003jty.3 P36406 OTTHUMG00000097802 ENST00000231524.9:c.1248A>C chr5.hg19:g.64892939T>G NA Q9BZY4|Q9BZY5 hg19 CCDS3987.1 0.02 9.125663 TTTxCCA COVERED NOVEL TRIM23-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000215058.2 1 13.540656 KEEP 0 0 0 45 1410 TT 1 1 0 - 10 60 366 0 0 23.520702 220 60 7823 339 ENST00000231524.9 0.043478 1 TRIM23 373 __UNKNOWN__ __UNKNOWN__ 5 64920230 64920230 __UNKNOWN__ 5'UTR SNP T T C rs71626590 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:64920230T>C ENST00000231524.9 - 0 243 NM_001656.3 NP_001647.1 P36406 TRI23_HUMAN tripartite motif containing 23 NA NA GTP catabolic process (GO:0006184)|positive regulation of catalytic activity (GO:0043085)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032) extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634) enzyme activator activity (GO:0008047)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 28 Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234) Lung(70;0.00473) GGGCGCCGCTTAGCCGACTCT 0.597 NA T||| 395 0.0788738 0.1104 0.0418 5008 , , NA 14918 0.0893 NA 0.0209 False NA ,,, NA NA NA 2504 0.1115 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant L04510 CCDS3986.1, CCDS3987.1, CCDS43322.1 5q12.3 2013-01-09 2011-01-25 2004-06-04 ENSG00000113595 ENSG00000113595 373 Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers 660 protein-coding gene gene with protein product 601747 ADP-ribosylation factor domain protein 1, 64kDa, tripartite motif-containing 23 ARFD1 NA 8473324 Standard NM_001656 NM_001656 NA Approved ARD1, RNF46 uc003jty.3 P36406 OTTHUMG00000097802 ENST00000231524.9:c.-129A>G chr5.hg19:g.64920230T>C NA Q9BZY4|Q9BZY5 hg19 CCDS3987.1 0.02 7.628674 GCTxAGC COVERED NOVEL TRIM23-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000215058.2 2 15.037965 KEEP 0 0 0 50 1441 TT 1 1 0 - 6 60 234 0 0 15.290675 146 60 5084 214 ENST00000231524.9 0.039474 1 SGTB 54557 __UNKNOWN__ __UNKNOWN__ 5 64965778 64965778 __UNKNOWN__ 3'UTR SNP T T C rs2292152 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:64965778T>C ENST00000381007.4 - 0 1445 NM_019072.2 NP_061945.1 Q96EQ0 SGTB_HUMAN small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta NA NA large_intestine(3)|lung(3)|skin(3) 9 Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Breast(144;0.174)|Colorectal(97;0.234) UCEC - Uterine corpus endometrioid carcinoma (4;0.0657)|Lung(70;0.00487) AAGTCTAATATACAAATATGA 0.333 NA T||| 328 0.0654952 0.0514 0.036 5008 , , NA 19632 0.1042 NA 0.0229 False NA ,,, NA NA NA 2504 0.1094 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK096321 CCDS3988.1 5q12.3 2013-01-10 ENSG00000197860 ENSG00000197860 54557 Tetratricopeptide (TTC) repeat domain containing 23567 protein-coding gene gene with protein product NA 12477932 Standard NM_019072 XM_005248548 NA Approved Sgt2, FLJ39002 uc003jud.3 Q96EQ0 OTTHUMG00000097801 ENST00000381007.4:c.*295A>G chr5.hg19:g.64965778T>C NA hg19 CCDS3988.1 0.02 4.702931 ATAxACA COVERED NOVEL SGTB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000215057.2 1 5.416111 KEEP 0 0 0 18 560 TT 0.999859 0.999859 0 - 5 60 198 0 0 12.743029 140 60 5061 184 ENST00000381007.4 0.034483 1 NLN 57486 __UNKNOWN__ __UNKNOWN__ 5 65120598 65120598 __UNKNOWN__ 3'UTR SNP G G A rs11740088 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:65120598G>A ENST00000380985.5 + 0 4148 NLN_ENST00000502464.1_3'UTR NM_020726.4 NP_065777.1 Q9BYT8 NEUL_HUMAN neurolysin (metallopeptidase M3 family) NA NA mitochondrion (GO:0005739)|plasma membrane (GO:0005886) metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277) central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 26 Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186) UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616) TCTATTTAGGGCCTACCTCTA 0.393 NA G||| 404 0.0806709 0.0038 0.1585 5008 , , NA 17831 0.13 NA 0.0755 False NA ,,, NA NA NA 2504 0.0838 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ300837 CCDS3989.1 5q12.3 2008-02-05 2005-03-31 ENSG00000123213 ENSG00000123213 57486 3.4.24.16 16058 protein-coding gene gene with protein product 611530 angiotensin binding protein AGTBP NA 10574462 Standard NM_020726 NA Approved KIAA1226 uc003juf.3 Q9BYT8 OTTHUMG00000097803 ENST00000380985.5:c.*1855G>A chr5.hg19:g.65120598G>A NA Q9ULJ4 hg19 CCDS3989.1 0.02 4.092369 AGGxCCT COVERED NOVEL NLN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000215060.1 5 10.835723 KEEP 0 0 0 36 1307 GG 0.999999 0.999999 0 + 8 60 292 0 0 19.836582 127 60 4647 211 ENST00000380985.5 0.059259 1 NLN 57486 __UNKNOWN__ __UNKNOWN__ 5 65121663 65121663 __UNKNOWN__ 3'UTR SNP T T C rs4700086 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:65121663T>C ENST00000380985.5 + 0 5213 NLN_ENST00000502464.1_3'UTR NM_020726.4 NP_065777.1 Q9BYT8 NEUL_HUMAN neurolysin (metallopeptidase M3 family) NA NA mitochondrion (GO:0005739)|plasma membrane (GO:0005886) metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277) central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 26 Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186) UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616) TTAGCTTTTATGTATGAATTA 0.338 NA T||| 414 0.0826677 0.0106 0.1599 5008 , , NA 19265 0.13 NA 0.0755 False NA ,,, NA NA NA 2504 0.0838 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ300837 CCDS3989.1 5q12.3 2008-02-05 2005-03-31 ENSG00000123213 ENSG00000123213 57486 3.4.24.16 16058 protein-coding gene gene with protein product 611530 angiotensin binding protein AGTBP NA 10574462 Standard NM_020726 NA Approved KIAA1226 uc003juf.3 Q9BYT8 OTTHUMG00000097803 ENST00000380985.5:c.*2920T>C chr5.hg19:g.65121663T>C NA Q9ULJ4 hg19 CCDS3989.1 0.02 4.583999 TTAxGTA COVERED NOVEL NLN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000215060.1 1 3.309764 KEEP 0 0 0 11 336 TT 0.993072 0.993068 0 + 6 60 195 0 0 12.210639 107 60 3976 146 ENST00000380985.5 0.053097 0.999995 NLN 57486 __UNKNOWN__ __UNKNOWN__ 5 65124804 65124804 __UNKNOWN__ 3'UTR SNP G G A rs531088821 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:65124804G>A ENST00000380985.5 + 0 8354 NLN_ENST00000502464.1_3'UTR NM_020726.4 NP_065777.1 Q9BYT8 NEUL_HUMAN neurolysin (metallopeptidase M3 family) NA NA mitochondrion (GO:0005739)|plasma membrane (GO:0005886) metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277) central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 26 Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186) UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616) GGGTATCTGGGAACTGAGGAT 0.398 NA G||| 1 0.000199681 0.0 0.0 5008 , , NA 20796 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ300837 CCDS3989.1 5q12.3 2008-02-05 2005-03-31 ENSG00000123213 ENSG00000123213 57486 3.4.24.16 16058 protein-coding gene gene with protein product 611530 angiotensin binding protein AGTBP NA 10574462 Standard NM_020726 NA Approved KIAA1226 uc003juf.3 Q9BYT8 OTTHUMG00000097803 ENST00000380985.5:c.*6061G>A chr5.hg19:g.65124804G>A NA Q9ULJ4 hg19 CCDS3989.1 0.02 11.663611 TGGxAAC COVERED NOVEL NLN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000215060.1 1 13.840985 KEEP 0 0 0 46 1573 GG 1 1 0 + 9 60 320 0 0 18.411682 318 60 11708 446 ENST00000380985.5 0.027523 1 ERBB2IP 55914 __UNKNOWN__ __UNKNOWN__ 5 65350374 65350374 __UNKNOWN__ Silent SNP A A G rs36303 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:65350374A>G ENST00000511297.1 + 21 3353 c.3216A>G c.(3214-3216)cgA>cgG p.R1072R ERBB2IP_ENST00000380943.2_Silent_p.R1076R|ERBB2IP_ENST00000506030.1_Silent_p.R1076R|ERBB2IP_ENST00000380936.1_Silent_p.R1076R|ERBB2IP_ENST00000380938.2_Silent_p.R1076R|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000284037.5_Silent_p.R1076R|ERBB2IP_ENST00000380935.1_Silent_p.R1076R|ERBB2IP_ENST00000380939.2_Silent_p.R1076R|ERBB2IP_ENST00000508515.1_Silent_p.R1076R Q96RT1 LAP2_HUMAN erbb2 interacting protein 1076 NA basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165) basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200) breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2) 36 Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234) UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191) CAATCCAGCGACAAAGTAGTG 0.473 NA A||| 1050 0.209665 0.09 0.2968 5008 , , NA 19190 0.4623 NA 0.1203 False NA ,,, NA NA NA 2504 0.1411 NA NA NA NA 0 A , 418,3988 205.2+/-227.1 11,396,1796 128 123 125 3228,3228 0.3 1 5 dbSNP_76 125 1191,7409 241.0+/-271.5 84,1023,3193 no coding-synonymous,coding-synonymous ERBB2IP NM_001006600.1,NM_018695.2 , 95,1419,4989 GG,GA,AA 13.8488,9.4871,12.3712 , 1076/1303,1076/1372 65350374 1609,11397 2203 4300 6503 SO:0001819 synonymous_variant CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1 5p14.3-q12.3 2008-07-18 2001-11-29 ENSG00000112851 ENSG00000112851 55914 15842 protein-coding gene gene with protein product densin-180-like protein, ERBB2-interacting protein 606944 erbb2-interacting protein NA 10574462, 10878805 Standard NM_018695 NM_001253697 NA Approved ERBIN, LAP2 uc011cqx.2 Q96RT1 OTTHUMG00000097808 ENST00000511297.1:c.3216A>G chr5.hg19:g.65350374A>G NA A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5 hg19 CCDS58951.1 0.02 10.473054 GCGxCAA COVERED NOVEL ERBB2IP-006 NOVEL basic|appris_candidate|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000368829.1 1 15.944868 KEEP 0 0 0 53 1632 AA 1 1 0 + 11 60 392 0 0 24.518142 259 60 9116 373 ENST00000511297.1 0.040741 1 ERBB2IP 55914 __UNKNOWN__ __UNKNOWN__ 5 65377526 65377526 __UNKNOWN__ 3'UTR SNP G G C rs27701 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:65377526G>C ENST00000284037.5 + 0 7796 NM_001253697.1 NP_001240626.1 Q96RT1 LAP2_HUMAN erbb2 interacting protein NA NA basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165) basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200) breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2) 36 Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234) UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191) CTAAAGGGAGGCATTAAGATG 0.323 NA c||| 1807 0.360823 0.5961 0.3473 5008 , , NA 15830 0.4633 NA 0.1471 False NA ,,, NA NA NA 2504 0.1667 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1 5p14.3-q12.3 2008-07-18 2001-11-29 ENSG00000112851 ENSG00000112851 55914 15842 protein-coding gene gene with protein product densin-180-like protein, ERBB2-interacting protein 606944 erbb2-interacting protein NA 10574462, 10878805 Standard NM_018695 NM_001253697 NA Approved ERBIN, LAP2 uc011cqx.2 Q96RT1 OTTHUMG00000097808 ENST00000284037.5:c.*3168G>C chr5.hg19:g.65377526G>C NA A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5 hg19 CCDS58953.1 0.02 8.672051 GAGxCAT COVERED NOVEL ERBB2IP-002 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000215070.1 2 11.135931 KEEP 0 0 0 37 1294 GG 1 1 0 + 11 60 395 0 0 25.447117 226 60 8304 326 ENST00000284037.5 0.046414 1 MAST4 375449 __UNKNOWN__ __UNKNOWN__ 5 66406143 66406143 __UNKNOWN__ Intron SNP G G A rs2545394 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:66406143G>A ENST00000403625.2 + 11 1753 MAST4_ENST00000490016.2_Intron|MAST4_ENST00000261569.7_Intron|MAST4_ENST00000405643.1_Intron|MAST4_ENST00000404260.3_Intron|MAST4_ENST00000403666.1_Intron NM_001164664.1 NP_001158136.1 O15021 MAST4_HUMAN microtubule associated serine/threonine kinase family member 4 NA NA cytoplasm (GO:0005737) ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674) breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) GAGTCAAAGGGAATTACAACT 0.368 NA G||| 1124 0.224441 0.2564 0.1599 5008 , , NA 19427 0.2282 NA 0.1819 False NA ,,, NA NA NA 2504 0.2669 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY830839 CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1 5q12.3 2007-06-20 ENSG00000069020 ENSG00000069020 375449 19037 protein-coding gene gene with protein product NA 9205841 Standard NM_198828 NA Approved KIAA0303 uc021xzk.1 O15021 OTTHUMG00000152471 ENST00000403625.2:c.1458+116G>A chr5.hg19:g.66406143G>A NA A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3 hg19 CCDS54861.1 0.02 12.072957 AGGxAAT COVERED NOVEL MAST4-001 NOVEL not_organism_supported|basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000326324.2 0 11.43523 KEEP 0 0 0 38 1267 GG 1 1 0 + 10 60 356 0 0 21.298892 293 60 10876 371 ENST00000403625.2 0.033003 1 MAST4 375449 __UNKNOWN__ __UNKNOWN__ 5 66448622 66448622 __UNKNOWN__ Silent SNP C C T rs2271358 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:66448622C>T ENST00000403625.2 + 25 3748 c.3453C>T c.(3451-3453)taC>taT p.Y1151Y MAST4_ENST00000261569.7_Silent_p.Y957Y|MAST4_ENST00000405643.1_Silent_p.Y972Y|MAST4_ENST00000404260.3_Silent_p.Y1154Y|MAST4_ENST00000403666.1_Silent_p.Y962Y NM_001164664.1 NP_001158136.1 O15021 MAST4_HUMAN microtubule associated serine/threonine kinase family member 4 1154 PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}. NA cytoplasm (GO:0005737) ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674) breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) GGAAGAACTACGGCTTTACCA 0.532 NA C||| 351 0.0700879 0.0333 0.0605 5008 , , NA 18617 0.1726 NA 0.0129 False NA ,,, NA NA NA 2504 0.0798 NA NA NA NA 0 C , 88,3882 1,86,1898 80 80 80 3453,2886 -7 0.6 5 dbSNP_100 80 104,8230 0,104,4063 no coding-synonymous,coding-synonymous MAST4 NM_001164664.1,NM_015183.2 , 1,190,5961 TT,TC,CC 1.2479,2.2166,1.5605 , 1151/2624,962/2435 66448622 192,12112 1985 4167 6152 SO:0001819 synonymous_variant AY830839 CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1 5q12.3 2007-06-20 ENSG00000069020 ENSG00000069020 375449 19037 protein-coding gene gene with protein product NA 9205841 Standard NM_198828 NA Approved KIAA0303 uc021xzk.1 O15021 OTTHUMG00000152471 ENST00000403625.2:c.3453C>T chr5.hg19:g.66448622C>T NA A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3 hg19 CCDS54861.1 0.02 10.30533 CTAxGGC COVERED 136 0.06227106227106227 16 0.032520325203252036 17 0.04696132596685083 93 0.16258741258741258 10 0.013192612137203167 C 9.230 1.035475 0.19590 0.022166 0.012479 ENSG00000069020 ENST00000443808 . . . 6.17 -6.96 0.01622 . . . . . T 0.00271 0.0008 . . . 0.09310 P 1.0 . . . . . . T 0.30504 -0.9976 3 . . . -18.4025 15.8877 0.79264 0.0:0.5362:0.0:0.4638 rs2271358;rs17294300;rs61088775;rs2271358 . . . W 208 . . R + 1 2 MAST4 66484378 0.002000 0.14202 0.569000 0.28460 0.978000 0.69477 -1.350000 0.02624 -1.268000 0.02439 -0.290000 0.09829 CGG NOVEL MAST4-001 NOVEL not_organism_supported|basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000326324.2 1 24.377217 KEEP 0 0 0 81 2768 CC 1 1 0 + 8 60 296 0 0 17.549686 280 60 9620 432 ENST00000403625.2 0.027778 1 MAST4 375449 __UNKNOWN__ __UNKNOWN__ 5 66462069 66462069 __UNKNOWN__ Silent SNP A A G rs4699896 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:66462069A>G ENST00000403625.2 + 29 7357 c.7062A>G c.(7060-7062)acA>acG p.T2354T MAST4_ENST00000261569.7_Silent_p.T2160T|MAST4_ENST00000405643.1_Silent_p.T2175T|MAST4_ENST00000404260.3_Silent_p.T2357T|MAST4_ENST00000403666.1_Silent_p.T2165T NM_001164664.1 NP_001158136.1 O15021 MAST4_HUMAN microtubule associated serine/threonine kinase family member 4 2357 NA cytoplasm (GO:0005737) ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674) p.T2357T(1) breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) acagacagacagacaAAAGCC 0.552 NA OREG0016638 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) A||| 959 0.191494 0.3812 0.2003 5008 , , NA 17200 0.2083 NA 0.0129 False NA ,,, NA NA NA 2504 0.0951 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) A , 1212,2834 166,880,977 21 33 29 7062,6495 2.2 1 5 dbSNP_111 29 98,8034 1,96,3969 no coding-synonymous,coding-synonymous MAST4 NM_001164664.1,NM_015183.2 , 167,976,4946 GG,GA,AA 1.2051,29.9555,10.7571 , 2354/2624,2165/2435 66462069 1310,10868 2023 4066 6089 SO:0001819 synonymous_variant AY830839 CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1 5q12.3 2007-06-20 ENSG00000069020 ENSG00000069020 375449 19037 protein-coding gene gene with protein product NA 9205841 Standard NM_198828 NA Approved KIAA0303 uc021xzk.1 O15021 OTTHUMG00000152471 ENST00000403625.2:c.7062A>G chr5.hg19:g.66462069A>G 1092 A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3 hg19 CCDS54861.1 0.02 20.167322 GACxGAC COVERED 390 0.17857142857142858 201 0.40853658536585363 68 0.1878453038674033 111 0.19405594405594406 10 0.013192612137203167 A 8.562 0.878029 0.17395 0.299555 0.012051 ENSG00000069020 ENST00000443808 . . . 4.8 2.24 0.28232 . . . . . T 0.00012 0.0000 . . . 0.09310 P 1.0 . . . . . . T 0.46541 -0.9184 3 . . . -8.1048 7.606 0.28103 0.7884:0.0:0.0767:0.1348 rs4699896;rs60166156;rs4699896 . . . G 1411 . . R + 1 2 MAST4 66497825 0.998000 0.40836 1.000000 0.80357 0.753000 0.42808 0.541000 0.23207 0.860000 0.35481 0.459000 0.35465 AGA NOVEL MAST4-001 NOVEL not_organism_supported|basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000326324.2 3 45.134581 KEEP 0 0 0 150 4657 AA 1 1 0 + 21 60 736 0 0 46.392684 449 70 16581 755 ENST00000403625.2 0.044681 1 CD180 4064 __UNKNOWN__ __UNKNOWN__ 5 66478729 66478729 __UNKNOWN__ Missense_Mutation SNP A A G rs2230524 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:66478729A>G ENST00000256447.4 - 3 2099 c.1942T>C c.(1942-1944)Ttt>Ctt p.F648L NM_005582.2 NP_005573.2 Q99467 CD180_HUMAN CD180 molecule 648 NA F -> L (in dbSNP:rs2230524). B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) p.F648L(1) cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2) 34 Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234) Lung(70;0.0046) TTAACTGCAAAAAATAGCAGA 0.373 NA A||| 526 0.105032 0.0613 0.17 5008 , , NA 20279 0.2143 NA 0.0139 False NA ,,, NA NA NA 2504 0.0992 NA NA NA NA 1 Substitution - Missense(1) stomach(1) A LEU/PHE 294,4112 145.4+/-180.2 10,274,1919 49 51 50 1942 2.9 0 5 dbSNP_98 50 118,8482 58.3+/-119.8 0,118,4182 yes missense CD180 NM_005582.2 22 10,392,6101 GG,GA,AA 1.3721,6.6727,3.1678 benign 648/662 66478729 412,12594 2203 4300 6503 SO:0001583 missense D83597 CCDS3992.1 5q12 2008-02-05 2006-03-28 2005-06-07 ENSG00000134061 ENSG00000134061 4064 CD molecules 6726 protein-coding gene gene with protein product 602226 lymphocyte antigen 64 (mouse) homolog, radioprotective, 105kD, CD180 antigen LY64 NA 9763566, 8975706 Standard NM_005582 NM_005582 NA Approved RP105, Ly78 uc003juy.2 Q99467 OTTHUMG00000131229 ENST00000256447.4:c.1942T>C chr5.hg19:g.66478729A>G ENSP00000256447:p.Phe648Leu NA B2R7Z7|Q32MM5 hg19 CCDS3992.1 0.02 6.377869 CAAxAAA COVERED 198 0.09065934065934066 25 0.0508130081300813 54 0.14917127071823205 108 0.1888111888111888 11 0.014511873350923483 A 0.007 -2.011192 0.00422 0.066727 0.013721 ENSG00000134061 ENST00000256447 T 0.32988 1.43 5.3 2.91 0.33838 . 0.472101 0.19945 N 0.102551 T 0.00039 0.0001 L 0.31065 0.9 0.80722 P 0.0 B 0.06786 0.001 B 0.04013 0.001 T 0.28586 -1.0039 9 0.02654 T 1 . 0.6033 0.00748 0.4781:0.1529:0.1768:0.1922 rs2230524;rs3733909;rs2230524 648 Q99467 CD180_HUMAN L 648 ENSP00000256447:F648L ENSP00000256447:F648L F - 1 0 CD180 66514485 0.002000 0.14202 0.002000 0.10522 0.007000 0.05969 1.346000 0.33964 1.038000 0.40049 0.533000 0.62120 TTT NOVEL CD180-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253973.2 0 6.319353 KEEP 0 0 0 21 668 AA 0.999869 0.999869 0 - 6 60 216 0 0 13.392358 152 60 5444 191 ENST00000256447.4 0.037975 1 CD180 4064 __UNKNOWN__ __UNKNOWN__ 5 66480374 66480374 __UNKNOWN__ Missense_Mutation SNP G G C rs2230520 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:66480374G>C ENST00000256447.4 - 3 454 c.297C>G c.(295-297)agC>agG p.S99R NM_005582.2 NP_005573.2 Q99467 CD180_HUMAN CD180 molecule 99 NA S -> R (in dbSNP:rs2230520). B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) p.S99R(1) cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2) 34 Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234) Lung(70;0.0046) ATTGATGATGGCTTTGAAAAG 0.333 NA G||| 467 0.0932508 0.031 0.1643 5008 , , NA 19746 0.2103 NA 0.0129 False NA ,,, NA NA NA 2504 0.089 NA NA NA NA 1 Substitution - Missense(1) stomach(1) G ARG/SER 109,4295 73.1+/-111.1 3,103,2096 95 96 96 297 3.2 1 5 dbSNP_98 96 95,8503 51.5+/-111.7 0,95,4204 yes missense CD180 NM_005582.2 110 3,198,6300 CC,CG,GG 1.1049,2.475,1.569 benign 99/662 66480374 204,12798 2202 4299 6501 SO:0001583 missense D83597 CCDS3992.1 5q12 2008-02-05 2006-03-28 2005-06-07 ENSG00000134061 ENSG00000134061 4064 CD molecules 6726 protein-coding gene gene with protein product 602226 lymphocyte antigen 64 (mouse) homolog, radioprotective, 105kD, CD180 antigen LY64 NA 9763566, 8975706 Standard NM_005582 NM_005582 NA Approved RP105, Ly78 uc003juy.2 Q99467 OTTHUMG00000131229 ENST00000256447.4:c.297C>G chr5.hg19:g.66480374G>C ENSP00000256447:p.Ser99Arg NA B2R7Z7|Q32MM5 hg19 CCDS3992.1 0.02 20.073083 ATGxCTT COVERED 185 0.08470695970695971 13 0.026422764227642278 53 0.1464088397790055 108 0.1888111888111888 11 0.014511873350923483 G 12.35 1.911211 0.33721 0.02475 0.011049 ENSG00000134061 ENST00000256447 T 0.57907 0.37 5.92 3.21 0.36854 . 0.379952 0.27315 N 0.019940 T 0.00039 0.0001 N 0.21545 0.675 0.34929 P 0.250849 P 0.40107 0.703 B 0.36989 0.238 T 0.08493 -1.0719 9 0.23891 T 0.37 . 11.0854 0.48084 0.199:0.0:0.801:0.0 rs2230520;rs3733920;rs52828744 99 Q99467 CD180_HUMAN R 99 ENSP00000256447:S99R ENSP00000256447:S99R S - 3 2 CD180 66516130 1.000000 0.71417 0.965000 0.40720 0.689000 0.40095 2.127000 0.42035 0.425000 0.26087 -0.136000 0.14681 AGC NOVEL CD180-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253973.2 2 26.487218 KEEP 0 0 0 88 3189 GG 1 1 0 - 14 60 517 0 0 31.207033 444 60 16586 669 ENST00000256447.4 0.030568 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 5 67494292 67494292 __UNKNOWN__ IGR SNP G G T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:67494292G>T NA NA RP11-404L6.2 (57 upstream) : PIK3R1 (17255 downstream) NA NA p.0?(1) NA TTGATATTATGTAtttccttt 0.328 NA NA NA NA NA NA NA NA NA NA NA 1 Whole gene deletion(1) large_intestine(1) NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr5.hg19:g.67494292G>T NA hg19 0.02 1.674171 TATxTAT COVERED NOVEL 0 1 4.449138 KEEP 0 0 0 15 434 GG 0.99649 0.99649 0 25 60 290 0 0 14.0498 107 60 3090 160 0.189394 1 PIK3R1 5295 __UNKNOWN__ __UNKNOWN__ 5 67596933 67596933 __UNKNOWN__ 3'UTR SNP C C T rs66666989 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:67596933C>T ENST00000521381.1 + 0 6295 PIK3R1_ENST00000396611.1_3'UTR|PIK3R1_ENST00000274335.5_3'UTR NM_181523.2 NP_852664.1 P27986 P85A_HUMAN phosphoinositide-3-kinase, regulatory subunit 1 (alpha) NA NA B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032) 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886) ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068) p.0?(1)|p.?(1) breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 178 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoprenaline(DB01064) TTAGTTGAAACGCAGACACTG 0.383 NA Mis, F, O gliobastoma, ovarian, colorectal TCGA GBM(4;<1E-08) C||| 1526 0.304712 0.4455 0.2536 5008 , , NA 14281 0.3452 NA 0.1769 False NA ,,, NA NA NA 2504 0.2403 NA NA NA Rec yes 5 5q13.1 5295 phosphoinositide-3-kinase, regulatory subunit 1 (alpha) E, O 2 Whole gene deletion(1)|Unknown(1) large_intestine(1)|lung(1) NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M61906 CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1 5q13.1 2014-09-17 2008-02-04 ENSG00000145675 ENSG00000145675 5295 SH2 domain containing 8979 protein-coding gene gene with protein product 171833 NA 1314371, 18387942 Standard NM_181504 NM_181524 NA Approved GRB1, p85-ALPHA, p85 uc003jva.3 P27986 OTTHUMG00000131251 ENST00000521381.1:c.*3504C>T chr5.hg19:g.67596933C>T NA B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5 hg19 CCDS3993.1 0.02 4.347046 AAAxGCA COVERED NOVEL PIK3R1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254013.2 1 11.435594 KEEP 0 0 0 38 1292 CC 1 1 0 + 7 60 260 0 0 17.274134 133 60 4654 206 ENST00000521381.1 0.05 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 5 68353022 68353022 __UNKNOWN__ IGR SNP A A G rs4976186 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:68353022A>G NA NA CTC-498J12.1 (13374 upstream) : SLC30A5 (36450 downstream) NA NA p.0?(1) NA gtctccactaaaaatacaaaa 0.537 NA A||| 1521 0.303714 0.4516 0.4035 5008 , , NA 16456 0.122 NA 0.3479 False NA ,,, NA NA NA 2504 0.1748 NA NA NA NA 1 Whole gene deletion(1) large_intestine(1) NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr5.hg19:g.68353022A>G NA hg19 0.02 -0.035082 CTAxAAA UNCOVERED NOVEL 0 3 2.40618 KEEP 2 0 0 8 241 AA 0 0 0 2 60 78 0 0 7.550672 2 60 59 14 0.5 0.019982 SLC30A5 64924 __UNKNOWN__ __UNKNOWN__ 5 68425699 68425699 __UNKNOWN__ 3'UTR SNP A A G rs6886492 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:68425699A>G ENST00000396591.3 + 0 3163 CTC-498J12.3_ENST00000504129.1_RNA NM_022902.4 NP_075053.2 Q8TAD4 ZNT5_HUMAN solute carrier family 30 (zinc transporter), member 5 NA NA cellular protein metabolic process (GO:0044267)|cellular zinc ion homeostasis (GO:0006882)|cobalt ion transport (GO:0006824)|regulation of proton transport (GO:0010155)|response to zinc ion (GO:0010043)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829) apical plasma membrane (GO:0016324)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667) zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385) breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16) OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177) CATCATCTTCAAAAATAGATA 0.259 NA A||| 1430 0.285543 0.5257 0.2334 5008 , , NA 17203 0.247 NA 0.1839 False NA ,,, NA NA NA 2504 0.1421 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF212235 CCDS3996.1, CCDS34173.1, CCDS58955.1 5q13.1 2013-05-22 ENSG00000145740 ENSG00000145740 64924 Solute carriers 19089 protein-coding gene gene with protein product 607819 NA 11937503, 11904301 Standard NM_022902 NA Approved ZTL1, ZnT-5, FLJ12496, FLJ12756, ZNT5, MGC5499, ZNTL1 uc003jvh.3 Q8TAD4 OTTHUMG00000131253 ENST00000396591.3:c.*255A>G chr5.hg19:g.68425699A>G NA B7ZM89|Q6UX54|Q7L4M4|Q8TDG3|Q9BVY8|Q9H9H1 hg19 CCDS3996.1 0.02 11.279165 TTCxAAA COVERED NOVEL SLC30A5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254017.2 1 10.230629 KEEP 0 0 0 34 1056 AA 0.999998 0.999998 0 + 9 60 336 0 0 20.79565 259 60 9505 357 ENST00000396591.3 0.033582 1 MRPS36 92259 __UNKNOWN__ __UNKNOWN__ 5 68524133 68524133 __UNKNOWN__ Silent SNP A A G rs2972359 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:68524133A>G ENST00000256441.4 + 3 283 c.213A>G c.(211-213)ccA>ccG p.P71P MRPS36_ENST00000512880.1_Silent_p.P6P|MRPS36_ENST00000602380.1_Silent_p.P6P|MRPS36_ENST00000507022.1_3'UTR NM_033281.5 NP_150597.1 P82909 RT36_HUMAN mitochondrial ribosomal protein S36 71 NA translation (GO:0006412) mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739) structural constituent of ribosome (GO:0003735) NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(1)|urinary_tract(1) 7 Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.04e-56)|Epithelial(20;8.79e-53)|all cancers(19;2.01e-48)|Lung(70;0.0176) AGGGTCCACCAGACACTGCAG 0.373 NA A||| 288 0.057508 0.0219 0.0187 5008 , , NA 16473 0.2113 NA 0.003 False NA ,,, NA NA NA 2504 0.0307 NA NA NA NA 0 A 148,4258 102.5+/-141.1 1,146,2056 106 113 111 213 2.2 1 5 dbSNP_101 111 11,8589 8.4+/-32.0 0,11,4289 no coding-synonymous MRPS36 NM_033281.5 1,157,6345 GG,GA,AA 0.1279,3.3591,1.2225 71/104 68524133 159,12847 2203 4300 6503 SO:0001819 synonymous_variant CCDS34174.1 5q13.2 2013-09-20 ENSG00000134056 ENSG00000134056 92259 Mitochondrial ribosomal proteins / small subunits 16631 protein-coding gene gene with protein product 611996 NA 11279123 Standard NM_033281 NM_033281 NA Approved DC47, MRP-S36 uc003jvq.3 P82909 OTTHUMG00000162443 ENST00000256441.4:c.213A>G chr5.hg19:g.68524133A>G NA Q9H2H4 hg19 CCDS34174.1 0.02 12.659038 ACCxGAC COVERED NOVEL MRPS36-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000368940.1 1 19.558543 KEEP 0 0 0 65 2041 AA 1 1 0 + 11 60 357 0 0 19.612132 350 60 13018 480 ENST00000256441.4 0.030471 1 MCCC2 64087 __UNKNOWN__ __UNKNOWN__ 5 70930966 70930966 __UNKNOWN__ Intron SNP A A G rs277984 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:70930966A>G ENST00000340941.6 + 10 1032 MCCC2_ENST00000323375.8_Intron|MCCC2_ENST00000510895.2_Intron|MCCC2_ENST00000509358.2_Intron NM_022132.4 NP_071415.1 Q9HCC0 MCCB_HUMAN methylcrotonoyl-CoA carboxylase 2 (beta) NA NA biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|coenzyme A metabolic process (GO:0015936)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767) cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739) ATP binding (GO:0005524)|methylcrotonoyl-CoA carboxylase activity (GO:0004485) endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1) 30 Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;2.04e-54) Biotin(DB00121) AACATGATCTATATTTCTGCA 0.363 NA G||| 1653 0.330072 0.0862 0.5159 5008 , , NA 22531 0.5248 NA 0.3469 False NA ,,, NA NA NA 2504 0.3098 NA NA NA NA 0 G 624,3782 767.4+/-413.5 40,544,1619 115 114 114 -10.4 0 5 dbSNP_79 114 3133,5467 656.7+/-401.4 601,1931,1768 no intron MCCC2 NM_022132.4 641,2475,3387 GG,GA,AA 36.4302,14.1625,28.8867 70930966 3757,9249 2203 4300 6503 SO:0001627 intron_variant AF310971 CCDS34184.1 5q12-q13 2010-04-30 2010-04-30 ENSG00000131844 ENSG00000131844 64087 6.4.1.4 6937 protein-coding gene gene with protein product 609014 methylcrotonoyl-Coenzyme A carboxylase 2 (beta) NA Standard NM_022132 NA Approved MCCB uc003kbs.4 Q9HCC0 OTTHUMG00000162505 ENST00000340941.6:c.904-12A>G chr5.hg19:g.70930966A>G NA A6NIY9|Q96C27|Q9Y4L7 hg19 CCDS34184.1 0.02 13.64549 TCTxTAT COVERED NOVEL MCCC2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000369243.4 2 3.216553 KEEP 0 3 113 50 1561 AA 1 1 0 + 10 60 385 0 0 23.993857 307 60 11183 455 ENST00000340941.6 0.031546 1 MAP1B 4131 __UNKNOWN__ __UNKNOWN__ 5 71412292 71412292 __UNKNOWN__ Intron SNP A A G rs78329240 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:71412292A>G ENST00000296755.7 + 2 584 NM_005909.3 NP_005900.2 P46821 MAP1B_HUMAN microtubule-associated protein 1B NA NA axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773) cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202) structural molecule activity (GO:0005198) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) TAAGGATGCAAAAATTTGTCA 0.388 NA A||| 623 0.124401 0.18 0.1182 5008 , , NA 19054 0.2341 NA 0.0099 False NA ,,, NA NA NA 2504 0.0583 NA NA NA Melanoma(17;367 822 11631 31730 47712) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L06237 CCDS4012.1 5q13 2014-06-12 ENSG00000131711 ENSG00000131711 4131 6836 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 102 157129 NA 1881920 Standard NM_005909 NM_005909 NA Approved MAP5, PPP1R102 uc003kbw.4 P46821 OTTHUMG00000100952 ENST00000296755.7:c.286+666A>G chr5.hg19:g.71412292A>G NA A2BDK5 hg19 CCDS4012.1 0.02 9.167661 GCAxAAA COVERED NOVEL MAP1B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000218561.6 0 19.560186 KEEP 0 0 0 65 2088 AA 1 1 0 + 8 60 312 0 0 20.016316 217 60 7941 366 ENST00000296755.7 0.035556 1 MAP1B 4131 __UNKNOWN__ __UNKNOWN__ 5 71492734 71492734 __UNKNOWN__ Silent SNP C C T rs7716079 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:71492734C>T ENST00000296755.7 + 5 3850 c.3552C>T c.(3550-3552)aaC>aaT p.N1184N NM_005909.3 NP_005900.2 P46821 MAP1B_HUMAN microtubule-associated protein 1B 1184 NA axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773) cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202) structural molecule activity (GO:0005198) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) CACCGCTCAACGGATTTTCTG 0.423 NA C||| 378 0.0754792 0.1157 0.0389 5008 , , NA 23253 0.0317 NA 0.0765 False NA ,,, NA NA NA 2504 0.091 NA NA NA Melanoma(17;367 822 11631 31730 47712) NA 0 C 487,3919 228.5+/-243.3 23,441,1739 76 70 72 3552 -6.7 0.6 5 dbSNP_116 72 724,7876 177.3+/-227.0 30,664,3606 no coding-synonymous MAP1B NM_005909.3 53,1105,5345 TT,TC,CC 8.4186,11.0531,9.3111 1184/2469 71492734 1211,11795 2203 4300 6503 SO:0001819 synonymous_variant L06237 CCDS4012.1 5q13 2014-06-12 ENSG00000131711 ENSG00000131711 4131 6836 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 102 157129 NA 1881920 Standard NM_005909 NM_005909 NA Approved MAP5, PPP1R102 uc003kbw.4 P46821 OTTHUMG00000100952 ENST00000296755.7:c.3552C>T chr5.hg19:g.71492734C>T NA A2BDK5 hg19 CCDS4012.1 0.02 25.804898 CAAxGGA COVERED NOVEL MAP1B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000218561.6 6 33.709477 KEEP 0 0 0 112 3910 CC 1 1 0 + 19 60 703 1 0 42.336038 614 60 21988 891 ENST00000296755.7 0.030016 1 MAP1B 4131 __UNKNOWN__ __UNKNOWN__ 5 71494906 71494906 __UNKNOWN__ Silent SNP G G A rs61734262 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:71494906G>A ENST00000296755.7 + 5 6022 c.5724G>A c.(5722-5724)aaG>aaA p.K1908K NM_005909.3 NP_005900.2 P46821 MAP1B_HUMAN microtubule-associated protein 1B 1908 NA axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773) cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202) structural molecule activity (GO:0005198) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) ACTATGAGAAGATAGAGAGAA 0.448 NA G||| 412 0.0822684 0.1021 0.0461 5008 , , NA 19259 0.0317 NA 0.1173 False NA ,,, NA NA NA 2504 0.0971 NA NA NA Melanoma(17;367 822 11631 31730 47712) NA 0 G 482,3924 203.5+/-225.9 20,442,1741 61 65 64 5724 3.5 0.7 5 dbSNP_129 64 1019,7581 206.8+/-248.7 62,895,3343 no coding-synonymous MAP1B NM_005909.3 82,1337,5084 AA,AG,GG 11.8488,10.9396,11.5408 1908/2469 71494906 1501,11505 2203 4300 6503 SO:0001819 synonymous_variant L06237 CCDS4012.1 5q13 2014-06-12 ENSG00000131711 ENSG00000131711 4131 6836 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 102 157129 NA 1881920 Standard NM_005909 NM_005909 NA Approved MAP5, PPP1R102 uc003kbw.4 P46821 OTTHUMG00000100952 ENST00000296755.7:c.5724G>A chr5.hg19:g.71494906G>A NA A2BDK5 hg19 CCDS4012.1 0.02 5.414039 GAAxATA COVERED NOVEL MAP1B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000218561.6 0 11.136382 KEEP 0 0 0 37 1321 GG 1 1 0 + 6 60 211 0 0 12.5901 171 60 6472 250 ENST00000296755.7 0.033898 1 FCHO2 115548 __UNKNOWN__ __UNKNOWN__ 5 72347090 72347090 __UNKNOWN__ Intron SNP A A T rs7712673 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:72347090A>T ENST00000430046.2 + 12 1055 FCHO2_ENST00000341845.6_Intron|FCHO2_ENST00000512348.1_Intron NM_001146032.1|NM_138782.2 NP_001139504.1|NP_620137.2 Q0JRZ9 FCHO2_HUMAN FCH domain only 2 NA NA clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|membrane invagination (GO:0010324)|protein localization to plasma membrane (GO:0072659) clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|plasma membrane (GO:0005886) phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786) cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1) 17 Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165) OV - Ovarian serous cystadenocarcinoma(47;4.6e-53) TTTGGTTCCTAAGTAATACCT 0.313 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL831971 CCDS47230.1, CCDS54868.1 5q13.2 2005-08-15 ENSG00000157107 ENSG00000157107 115548 25180 protein-coding gene gene with protein product 613438 NA 15254787 Standard XM_291142 NM_138782 NA Approved uc003kcl.3 Q0JRZ9 OTTHUMG00000162413 ENST00000430046.2:c.940-86A>T chr5.hg19:g.72347090A>T NA A8K6W7|B2RNQ9|B4DHK0|E9PG79|Q0JTJ3|Q96CF5 hg19 CCDS47230.1 0.02 4.631042 CCTxAGT COVERED NOVEL FCHO2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000368795.3 0 3.91031 KEEP 0 0 0 13 402 AA 0.994391 0.994389 0 + 10 60 363 0 0 26.165066 109 60 3972 168 ENST00000430046.2 0.084034 0.999998 FCHO2 115548 __UNKNOWN__ __UNKNOWN__ 5 72347223 72347223 __UNKNOWN__ Silent SNP A A G rs7712838 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:72347223A>G ENST00000430046.2 + 12 1103 c.987A>G c.(985-987)acA>acG p.T329T FCHO2_ENST00000341845.6_Silent_p.T329T|FCHO2_ENST00000512348.1_Silent_p.T296T NM_001146032.1|NM_138782.2 NP_001139504.1|NP_620137.2 Q0JRZ9 FCHO2_HUMAN FCH domain only 2 329 NA clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|membrane invagination (GO:0010324)|protein localization to plasma membrane (GO:0072659) clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|plasma membrane (GO:0005886) phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786) cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1) 17 Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165) OV - Ovarian serous cystadenocarcinoma(47;4.6e-53) AACCAGAAACAAATCAGAATG 0.294 NA A||| 1513 0.302117 0.2897 0.1859 5008 , , NA 16811 0.4782 NA 0.3181 False NA ,,, NA NA NA 2504 0.2035 NA NA NA NA 0 A , 914,2522 132,650,936 75 72 73 888,987 3.9 1 5 dbSNP_116 73 2096,5608 294,1508,2050 no coding-synonymous,coding-synonymous FCHO2 NM_001146032.1,NM_138782.2 , 426,2158,2986 GG,GA,AA 27.2066,26.6007,27.0197 , 296/778,329/811 72347223 3010,8130 1718 3852 5570 SO:0001819 synonymous_variant AL831971 CCDS47230.1, CCDS54868.1 5q13.2 2005-08-15 ENSG00000157107 ENSG00000157107 115548 25180 protein-coding gene gene with protein product 613438 NA 15254787 Standard XM_291142 NM_138782 NA Approved uc003kcl.3 Q0JRZ9 OTTHUMG00000162413 ENST00000430046.2:c.987A>G chr5.hg19:g.72347223A>G NA A8K6W7|B2RNQ9|B4DHK0|E9PG79|Q0JTJ3|Q96CF5 hg19 CCDS47230.1 0.02 4.231772 AACxAAT COVERED NOVEL FCHO2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000368795.3 0 4.513531 KEEP 0 0 0 15 465 AA 0.99649 0.996489 0 + 10 60 367 0 0 26.563797 109 60 3944 158 ENST00000430046.2 0.084034 0.999998 FCHO2 115548 __UNKNOWN__ __UNKNOWN__ 5 72370745 72370745 __UNKNOWN__ Intron SNP C C T rs7732230 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:72370745C>T ENST00000430046.2 + 20 1807 FCHO2_ENST00000341845.6_Intron|FCHO2_ENST00000512348.1_Intron NM_001146032.1|NM_138782.2 NP_001139504.1|NP_620137.2 Q0JRZ9 FCHO2_HUMAN FCH domain only 2 NA NA clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|membrane invagination (GO:0010324)|protein localization to plasma membrane (GO:0072659) clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|plasma membrane (GO:0005886) phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786) cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1) 17 Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165) OV - Ovarian serous cystadenocarcinoma(47;4.6e-53) GGTGGTGGGGCTTGGTGGTAA 0.348 NA C||| 841 0.167931 0.1233 0.1009 5008 , , NA 19169 0.3879 NA 0.169 False NA ,,, NA NA NA 2504 0.0481 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL831971 CCDS47230.1, CCDS54868.1 5q13.2 2005-08-15 ENSG00000157107 ENSG00000157107 115548 25180 protein-coding gene gene with protein product 613438 NA 15254787 Standard XM_291142 NM_138782 NA Approved uc003kcl.3 Q0JRZ9 OTTHUMG00000162413 ENST00000430046.2:c.1691+65C>T chr5.hg19:g.72370745C>T NA A8K6W7|B2RNQ9|B4DHK0|E9PG79|Q0JTJ3|Q96CF5 hg19 CCDS47230.1 0.02 1.569831 GGGxTTG COVERED NOVEL FCHO2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000368795.3 1 2.407807 KEEP 0 0 0 8 279 CC 0.99257 0.991982 0 + 4 60 136 0 0 8.572186 78 60 2916 90 ENST00000430046.2 0.04878 0.999407 FCHO2 115548 __UNKNOWN__ __UNKNOWN__ 5 72385914 72385914 __UNKNOWN__ 3'UTR SNP A A G rs6892973 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:72385914A>G ENST00000430046.2 + 0 4546 FCHO2_ENST00000341845.6_3'UTR NM_001146032.1|NM_138782.2 NP_001139504.1|NP_620137.2 Q0JRZ9 FCHO2_HUMAN FCH domain only 2 NA NA clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|membrane invagination (GO:0010324)|protein localization to plasma membrane (GO:0072659) clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|plasma membrane (GO:0005886) phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786) cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1) 17 Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165) OV - Ovarian serous cystadenocarcinoma(47;4.6e-53) TTTTAATCAAATATTACCTAA 0.313 NA G||| 1531 0.305711 0.2897 0.1974 5008 , , NA 16465 0.4782 NA 0.326 False NA ,,, NA NA NA 2504 0.2055 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL831971 CCDS47230.1, CCDS54868.1 5q13.2 2005-08-15 ENSG00000157107 ENSG00000157107 115548 25180 protein-coding gene gene with protein product 613438 NA 15254787 Standard XM_291142 NM_138782 NA Approved uc003kcl.3 Q0JRZ9 OTTHUMG00000162413 ENST00000430046.2:c.*1997A>G chr5.hg19:g.72385914A>G NA A8K6W7|B2RNQ9|B4DHK0|E9PG79|Q0JTJ3|Q96CF5 hg19 CCDS47230.1 0.02 4.816731 CAAxTAT COVERED NOVEL FCHO2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000368795.3 0 3.343245 KEEP 0 1 28 21 667 AA 0.999879 0.999879 0 + 7 60 275 0 0 18.95599 125 60 4532 174 ENST00000430046.2 0.05303 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 5 72804745 72804745 __UNKNOWN__ IGR SNP A A G rs7726888 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:72804745A>G NA NA BTF3 (3285 upstream) : ANKRA2 (43414 downstream) NA NA NA CCTTCAGCAGAAAAGTATAGC 0.483 NA A||| 1421 0.283746 0.4455 0.1153 5008 , , NA 20315 0.5437 NA 0.0706 False NA ,,, NA NA NA 2504 0.136 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr5.hg19:g.72804745A>G NA hg19 0.02 8.271837 CAGxAAA COVERED NOVEL 0 1 14.738495 KEEP 0 0 0 49 1449 AA 1 1 0 7 60 253 0 0 15.422851 196 60 7025 291 0.034483 1 ANKRA2 57763 __UNKNOWN__ __UNKNOWN__ 5 72848681 72848681 __UNKNOWN__ Intron SNP G G C rs149265461 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:72848681G>C ENST00000296785.3 - 9 1545 NM_023039.4 NP_075526.1 Q9H9E1 ANRA2_HUMAN ankyrin repeat, family A (RFXANK-like), 2 NA NA cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634) low-density lipoprotein particle binding (GO:0030169) endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1) 8 Lung NSC(167;0.0378)|Ovarian(174;0.0908) OV - Ovarian serous cystadenocarcinoma(47;3.71e-54) TGTTGAACTAGAACAGATAGG 0.303 NA G||| 33 0.00658946 0.0 0.0 5008 , , NA 15274 0.0317 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 G 0,4406 0,0,2203 89 91 91 -0.4 0.8 5 dbSNP_134 91 1,8599 1.2+/-3.3 0,1,4299 no intron ANKRA2 NM_023039.4 0,1,6502 CC,CG,GG 0.0116,0.0,0.0077 72848681 1,13005 2203 4300 6503 SO:0001627 intron_variant AA442702 CCDS4020.1 5q12-q13 2013-01-10 ENSG00000164331 ENSG00000164331 57763 Ankyrin repeat domain containing 13208 protein-coding gene gene with protein product 605787 NA 10965114 Standard NM_023039 NM_023039 NA Approved uc003kcu.2 Q9H9E1 OTTHUMG00000102030 ENST00000296785.3:c.887-4C>G chr5.hg19:g.72848681G>C NA hg19 CCDS4020.1 0.02 13.427917 CTAxAAC COVERED NOVEL ANKRA2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000219814.2 0 17.456495 KEEP 0 0 0 58 2035 GG 1 1 0 - 10 60 377 0 0 23.169735 309 60 11565 428 ENST00000296785.3 0.031348 1 ARHGEF28 64283 __UNKNOWN__ __UNKNOWN__ 5 72980869 72980869 __UNKNOWN__ Intron SNP G G C rs10755296 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:72980869G>C ENST00000426542.2 + 1 53 ARHGEF28_ENST00000437974.1_Intron|ARHGEF28_ENST00000287898.5_Intron|ARHGEF28_ENST00000545377.1_Intron|ARHGEF28_ENST00000513042.2_Intron|ARHGEF28_ENST00000296794.6_Intron Q8N1W1 ARG28_HUMAN Rho guanine nucleotide exchange factor (GEF) 28 NA NA central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052) cytoplasm (GO:0005737)|plasma membrane (GO:0005886) metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723) NA TGCATGGAGCGTTTTAAAACT 0.353 NA C||| 3672 0.733227 0.6543 0.8098 5008 , , NA 16867 0.8204 NA 0.7097 False NA ,,, NA NA NA 2504 0.7198 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1 5q13.2 2012-08-08 ENSG00000214944 ENSG00000214944 64283 30322 protein-coding gene gene with protein product 612790 NA 9199174, 11058585 Standard NM_001177693 NA Approved RGNEF, p190RhoGEF, RIP2 uc010izf.3 Q8N1W1 OTTHUMG00000162454 ENST00000426542.2:c.33+160G>C chr5.hg19:g.72980869G>C NA B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0 hg19 CCDS54870.1 0.02 1.75485 AGCxTTT COVERED NOVEL ARHGEF28-004 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000368975.1 1 3.912566 KEEP 0 0 0 13 440 GG 0.994391 0.99431 0 + 4 60 152 0 0 9.908404 91 60 3353 111 ENST00000426542.2 0.042105 0.999919 ARHGEF28 64283 __UNKNOWN__ __UNKNOWN__ 5 72995701 72995701 __UNKNOWN__ Intron SNP T T G rs10515161 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:72995701T>G ENST00000426542.2 + 1 53 ARHGEF28_ENST00000437974.1_Intron|ARHGEF28_ENST00000287898.5_Intron|ARHGEF28_ENST00000545377.1_Intron|ARHGEF28_ENST00000513042.2_Intron|ARHGEF28_ENST00000296794.6_Intron Q8N1W1 ARG28_HUMAN Rho guanine nucleotide exchange factor (GEF) 28 NA NA central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052) cytoplasm (GO:0005737)|plasma membrane (GO:0005886) metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723) NA CTATTTAAATTTACTTGACCA 0.299 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1 5q13.2 2012-08-08 ENSG00000214944 ENSG00000214944 64283 30322 protein-coding gene gene with protein product 612790 NA 9199174, 11058585 Standard NM_001177693 NA Approved RGNEF, p190RhoGEF, RIP2 uc010izf.3 Q8N1W1 OTTHUMG00000162454 ENST00000426542.2:c.33+14992T>G chr5.hg19:g.72995701T>G NA B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0 hg19 CCDS54870.1 0.02 11.848154 AATxTAC COVERED NOVEL ARHGEF28-004 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000368975.1 2 8.086952 KEEP 0 2 72 52 1510 TT 1 1 0 + 8 60 312 0 0 19.4934 253 60 9045 359 ENST00000426542.2 0.030651 1 ARHGEF28 64283 __UNKNOWN__ __UNKNOWN__ 5 73072354 73072354 __UNKNOWN__ Missense_Mutation SNP T T C rs7714670 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:73072354T>C ENST00000426542.2 + 5 693 c.673T>C c.(673-675)Tgg>Cgg p.W225R ARHGEF28_ENST00000437974.1_Missense_Mutation_p.W225R|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.W225R|ARHGEF28_ENST00000545377.1_Missense_Mutation_p.W225R|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.W225R|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.W225R Q8N1W1 ARG28_HUMAN Rho guanine nucleotide exchange factor (GEF) 28 225 NA W -> R (in dbSNP:rs7714670). central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052) cytoplasm (GO:0005737)|plasma membrane (GO:0005886) metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723) NA TCAGGGCAGATGGTCCCCAAG 0.527 NA T||| 1855 0.370407 0.3381 0.366 5008 , , NA 15351 0.3194 NA 0.4573 False NA ,,, NA NA NA 2504 0.3804 NA NA NA NA 0 T ARG/TRP,ARG/TRP 1467,2625 261,945,840 68 72 71 673,673 0.8 0 5 dbSNP_116 71 3811,4619 902,2007,1306 yes missense,missense RGNEF NM_001080479.2,NM_001177693.1 101,101 1163,2952,2146 CC,CT,TT 45.2076,35.8504,42.1498 benign,benign 225/1732,225/1706 73072354 5278,7244 2046 4215 6261 SO:0001583 missense CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1 5q13.2 2012-08-08 ENSG00000214944 ENSG00000214944 64283 30322 protein-coding gene gene with protein product 612790 NA 9199174, 11058585 Standard NM_001177693 NA Approved RGNEF, p190RhoGEF, RIP2 uc010izf.3 Q8N1W1 OTTHUMG00000162454 ENST00000426542.2:c.673T>C chr5.hg19:g.73072354T>C ENSP00000412175:p.Trp225Arg NA B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0 hg19 CCDS54870.1 0.02 6.297051 AGAxGGT COVERED 822 0.37637362637362637 166 0.33739837398373984 135 0.3729281767955801 170 0.2972027972027972 351 0.4630606860158311 T 0.005 -2.170811 0.00315 0.358504 0.452076 ENSG00000214944 ENST00000296794;ENST00000545377;ENST00000513042;ENST00000287898;ENST00000437974;ENST00000426542 T;T;T;T;T;T 0.08102 3.38;3.38;3.38;3.13;3.38;3.38 5.15 0.823 0.18812 . . . . . T 0.00012 0.0000 N 0.00436 -1.5 0.80722 P 0.0 B;B;B;B 0.02656 0.0;0.0;0.0;0.0 B;B;B;B 0.01281 0.0;0.0;0.0;0.0 T 0.42103 -0.9471 8 0.06365 T 0.9 . 4.5007 0.11863 0.1502:0.5769:0.0:0.2729 rs7714670;rs17634387;rs58192310;rs7714670 225;225;225;225 Q8N1W1;E9PC75;Q8N1W1-2;Q8N1W1-4 RGNEF_HUMAN;.;.;. R 225 ENSP00000296794:W225R;ENSP00000441913:W225R;ENSP00000441436:W225R;ENSP00000287898:W225R;ENSP00000411459:W225R;ENSP00000412175:W225R ENSP00000287898:W225R W + 1 0 RP11-428C6.1 73108110 0.000000 0.05858 0.000000 0.03702 0.253000 0.25986 0.228000 0.17814 0.151000 0.19162 -1.140000 0.01884 TGG NOVEL ARHGEF28-004 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000368975.1 2 16.247905 KEEP 0 0 0 54 1668 TT 1 1 0 + 15 60 528 0 0 37.17543 175 60 6290 285 ENST00000426542.2 0.078947 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 5 73339114 73339114 __UNKNOWN__ IGR SNP C C T rs285599 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:73339114C>T NA NA RP11-428C6.2 (89275 upstream) : CTD-2292M14.1 (40778 downstream) NA NA NA AAGTGATCTACATCCTtggtc 0.408 NA C||| 2580 0.515176 0.6029 0.4611 5008 , , NA 18456 0.6042 NA 0.327 False NA ,,, NA NA NA 2504 0.5368 NA NA NA NA 0 C 975,777 276,423,177 47 47 47 -0.9 0 5 dbSNP_79 47 1315,2667 222,871,898 yes intergenic 498,1294,1075 TT,TC,CC 33.0236,44.3493,39.9372 73339114 2290,3444 876 1991 2867 SO:0001628 intergenic_variant NA NA NA NA chr5.hg19:g.73339114C>T NA hg19 0.02 12.957344 CTAxATC COVERED NOVEL 0 4 27.088766 KEEP 0 0 0 90 3241 CC 1 1 0 15 60 556 0 0 35.875886 335 60 12912 566 0.042857 1 FAM169A 26049 __UNKNOWN__ __UNKNOWN__ 5 74075429 74075429 __UNKNOWN__ 3'UTR SNP C C G rs1164692 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:74075429C>G ENST00000510496.1 - 0 3779 FAM169A_ENST00000389156.4_3'UTR Q9Y6X4 F169A_HUMAN family with sequence similarity 169, member A NA NA membrane (GO:0016020)|nucleus (GO:0005634) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1) 27 TTGGTAGATTCACTAATAGTA 0.249 NA C||| 1878 0.375 0.1853 0.3718 5008 , , NA 14732 0.2629 NA 0.5905 False NA ,,, NA NA NA 2504 0.5276 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS43330.1 5q13.3 2008-08-08 ENSG00000198780 ENSG00000198780 26049 29138 protein-coding gene gene with protein product 615769 NA 10048485 Standard NM_015566 NA Approved KIAA0888 uc003kdm.4 Q9Y6X4 OTTHUMG00000162930 ENST00000510496.1:c.*1856G>C chr5.hg19:g.74075429C>G NA A8K1T9|Q6MZT0|Q9H989 hg19 0.02 6.654524 ATTxACT COVERED NOVEL FAM169A-004 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000371104.1 0 7.223068 KEEP 0 0 0 24 827 CC 0.999909 0.999909 0 - 10 60 372 0 0 25.433587 161 60 5784 227 ENST00000510496.1 0.05848 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 5 75028489 75028489 __UNKNOWN__ IGR SNP C C G rs112311926 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:75028489C>G NA NA POC5 (15176 upstream) : CTC-235G5.3 (349281 downstream) NA NA NA gtggctcacacctgtaatccc 0.458 NA C||| 699 0.139577 0.0446 0.1671 5008 , , NA 14517 0.1002 NA 0.2127 False NA ,,, NA NA NA 2504 0.2137 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr5.hg19:g.75028489C>G NA hg19 0.02 -0.052641 ACAxCTG UNCOVERED NOVEL 0 1 2.407709 KEEP 0 0 0 8 278 CC 0.99257 0.036492 0 2 60 73 0 0 6.595607 4 60 157 18 0.333333 0.036766 SV2C 22987 __UNKNOWN__ __UNKNOWN__ 5 75628313 75628313 __UNKNOWN__ Intron SNP T T C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:75628313T>C ENST00000322285.7 + 13 2200 RP11-466P24.7_ENST00000581282.1_lincRNA Q496J9 SV2C_HUMAN synaptic vesicle glycoprotein 2C NA NA neurotransmitter transport (GO:0006836) cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021) transmembrane transporter activity (GO:0022857) NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40) ttagataaattatagctaaaa 0.313 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB028977 CCDS43331.1, CCDS75261.1 5q13 2008-02-05 ENSG00000122012 ENSG00000122012 22987 30670 protein-coding gene gene with protein product 610291 NA 10470851, 9801366 Standard XM_005248470 NA Approved uc003kei.1 Q496J9 OTTHUMG00000162384 ENST00000322285.7:c.2001-20642T>C chr5.hg19:g.75628313T>C NA Q496K1|Q9UPU8 hg19 0.02 5.035986 AATxATA COVERED NOVEL SV2C-002 PUTATIVE basic protein_coding NA protein_coding OTTHUMT00000368701.1 3 6.015865 KEEP 0 0 0 20 597 TT 0.999863 0.999852 0 + 7 60 269 0 0 19.013951 100 60 3569 147 ENST00000322285.7 0.065421 0.999989 IQGAP2 10788 __UNKNOWN__ __UNKNOWN__ 5 75699194 75699194 __UNKNOWN__ 5'UTR SNP C C T rs1122654 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:75699194C>T ENST00000274364.6 + 0 121 IQGAP2_ENST00000379730.3_5'UTR NM_006633.2 NP_006624 Q13576 IQGA2_HUMAN IQ motif containing GTPase activating protein 2 NA NA negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264) actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902) actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) GCGCGGCGGCCGTGGCTGGCT 0.697 NA C||| 1174 0.234425 0.2057 0.1585 5008 , , NA 11161 0.4821 NA 0.1153 False NA ,,, NA NA NA 2504 0.1943 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant U51903 CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1 5q 2008-07-18 ENSG00000145703 ENSG00000145703 10788 6111 protein-coding gene gene with protein product 605401 NA 8756646 Standard NM_006633 XM_005248409 NA Approved uc003kek.3 Q13576 OTTHUMG00000162432 ENST00000274364.6:c.-177C>T chr5.hg19:g.75699194C>T NA A8K4V1|B7Z8A4|J3KR91 hg19 CCDS34188.1 0.02 6.863081 GGCxGTG COVERED NOVEL IQGAP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000368877.1 1 25.581813 KEEP 0 0 0 85 2951 CC 1 1 0 + 11 60 406 0 0 28.127707 160 60 5493 340 ENST00000274364.6 0.064327 1 IQGAP2 10788 __UNKNOWN__ __UNKNOWN__ 5 75906851 75906851 __UNKNOWN__ Missense_Mutation SNP T T C rs7722711 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:75906851T>C ENST00000274364.6 + 13 1661 c.1364T>C c.(1363-1365)gTa>gCa p.V455A IQGAP2_ENST00000379730.3_Missense_Mutation_p.V14A|IQGAP2_ENST00000396234.3_Missense_Mutation_p.V8A|IQGAP2_ENST00000502745.1_Missense_Mutation_p.V8A NM_006633.2 NP_006624 Q13576 IQGA2_HUMAN IQ motif containing GTPase activating protein 2 455 NA V -> A (in dbSNP:rs7722711). negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264) actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902) actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099) p.V455A(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) CTAGGAGTTGTAGCTGTAGGG 0.373 NA T||| 417 0.0832668 0.0076 0.0749 5008 , , NA 17132 0.2629 NA 0.0537 False NA ,,, NA NA NA 2504 0.0368 NA NA NA NA 1 Substitution - Missense(1) stomach(1) T ALA/VAL 94,4312 77.3+/-115.6 1,92,2110 103 95 98 1364 4.6 0.4 5 dbSNP_116 98 543,8057 150.0+/-205.0 19,505,3776 yes missense IQGAP2 NM_006633.2 64 20,597,5886 CC,CT,TT 6.314,2.1335,4.8977 benign 455/1576 75906851 637,12369 2203 4300 6503 SO:0001583 missense U51903 CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1 5q 2008-07-18 ENSG00000145703 ENSG00000145703 10788 6111 protein-coding gene gene with protein product 605401 NA 8756646 Standard NM_006633 XM_005248409 NA Approved uc003kek.3 Q13576 OTTHUMG00000162432 ENST00000274364.6:c.1364T>C chr5.hg19:g.75906851T>C ENSP00000274364:p.Val455Ala NA A8K4V1|B7Z8A4|J3KR91 hg19 CCDS34188.1 0.02 14.17442 TTGxAGC COVERED 226 0.10347985347985347 3 0.006097560975609756 26 0.0718232044198895 153 0.2674825174825175 44 0.05804749340369393 T 28.7 4.939106 0.92526 0.021335 0.06314 ENSG00000145703 ENST00000274364;ENST00000379730;ENST00000514350;ENST00000505766;ENST00000514001;ENST00000396234;ENST00000545384;ENST00000509074;ENST00000502745 T;T;T;T;T;T;T;T 0.07216 3.21;3.21;3.21;3.21;3.21;3.21;3.21;3.21 5.8 4.63 0.57726 . 0.108661 0.64402 D 0.000013 T 0.00012 0.0000 N 0.20685 0.6 0.34586 P 0.285025 B;B;B;B 0.11235 0.0;0.004;0.001;0.002 B;B;B;B 0.10450 0.002;0.005;0.004;0.002 T 0.40776 -0.9545 9 0.06494 T 0.89 -18.543 12.0043 0.53251 0.0:0.0683:0.0:0.9317 rs7722711;rs52796825;rs7722711 14;405;8;455 F5H7S7;E7EWC2;Q13576-2;Q13576 .;.;.;IQGA2_HUMAN A 455;14;428;405;8;8;8;8;8 ENSP00000274364:V455A;ENSP00000442313:V14A;ENSP00000423672:V428A;ENSP00000421097:V405A;ENSP00000422661:V8A;ENSP00000379535:V8A;ENSP00000425351:V8A;ENSP00000426027:V8A ENSP00000274364:V455A V + 2 0 IQGAP2 75942607 1.000000 0.71417 0.363000 0.25875 0.885000 0.51271 5.544000 0.67231 2.213000 0.71641 0.477000 0.44152 GTA NOVEL IQGAP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000368877.1 0 9.02611 KEEP 0 0 0 30 925 TT 0.999997 0.999997 0 + 13 60 506 0 0 33.104676 312 60 10878 398 ENST00000274364.6 0.04 1 ZBED3 84327 __UNKNOWN__ __UNKNOWN__ 5 76368313 76368313 __UNKNOWN__ 3'UTR SNP A A G rs1864055 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:76368313A>G ENST00000255198.2 - 0 5755 NM_032367.2 NP_115743.1 Q96IU2 ZBED3_HUMAN zinc finger, BED-type containing 3 NA NA negative regulation of protein phosphorylation (GO:0001933)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein stabilization (GO:0050821)|Wnt signaling pathway (GO:0016055) cytosol (GO:0005829)|membrane (GO:0016020) DNA binding (GO:0003677)|metal ion binding (GO:0046872) NA all_lung(232;0.00645)|Lung NSC(167;0.0135)|Ovarian(174;0.0798)|Prostate(461;0.121) OV - Ovarian serous cystadenocarcinoma(54;2.24e-51)|Epithelial(54;9.06e-46)|all cancers(79;2.48e-41) ctagggactcatggccactct 0.373 NA a||| 2784 0.555911 0.5477 0.6484 5008 , , NA 17011 0.5804 NA 0.6332 False NA ,,, NA NA NA 2504 0.3967 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC007239 CCDS4036.1 5q13.2 2013-05-03 ENSG00000132846 ENSG00000132846 84327 Zinc fingers, BED-type 20711 protein-coding gene gene with protein product 615250 NA 23533661 Standard NM_032367 NM_032367 NA Approved MGC15435 uc003kev.1 Q96IU2 OTTHUMG00000102131 ENST00000255198.2:c.*4686T>C chr5.hg19:g.76368313A>G NA hg19 CCDS4036.1 0.02 9.115133 CTCxTGG COVERED NOVEL ZBED3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000219970.1 0 3.910473 KEEP 0 3 77 40 1249 AA 1 1 0 - 12 60 436 0 0 28.824199 220 60 8168 333 ENST00000255198.2 0.051724 1 ZBED3 84327 __UNKNOWN__ __UNKNOWN__ 5 76368429 76368429 __UNKNOWN__ 3'UTR SNP C C T rs1864056 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:76368429C>T ENST00000255198.2 - 0 5639 NM_032367.2 NP_115743.1 Q96IU2 ZBED3_HUMAN zinc finger, BED-type containing 3 NA NA negative regulation of protein phosphorylation (GO:0001933)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein stabilization (GO:0050821)|Wnt signaling pathway (GO:0016055) cytosol (GO:0005829)|membrane (GO:0016020) DNA binding (GO:0003677)|metal ion binding (GO:0046872) NA all_lung(232;0.00645)|Lung NSC(167;0.0135)|Ovarian(174;0.0798)|Prostate(461;0.121) OV - Ovarian serous cystadenocarcinoma(54;2.24e-51)|Epithelial(54;9.06e-46)|all cancers(79;2.48e-41) tttttatatacctttgggatt 0.343 NA c||| 1019 0.203474 0.0658 0.3228 5008 , , NA 17647 0.2808 NA 0.2952 False NA ,,, NA NA NA 2504 0.1309 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC007239 CCDS4036.1 5q13.2 2013-05-03 ENSG00000132846 ENSG00000132846 84327 Zinc fingers, BED-type 20711 protein-coding gene gene with protein product 615250 NA 23533661 Standard NM_032367 NM_032367 NA Approved MGC15435 uc003kev.1 Q96IU2 OTTHUMG00000102131 ENST00000255198.2:c.*4570G>A chr5.hg19:g.76368429C>T NA hg19 CCDS4036.1 0.02 6.727666 ATAxCTT COVERED NOVEL ZBED3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000219970.1 1 10.787625 KEEP 0 0 0 36 1222 CC 0.999999 0.999999 0 - 7 60 255 0 0 16.106243 167 60 6095 253 ENST00000255198.2 0.04023 1 ZBED3 84327 __UNKNOWN__ __UNKNOWN__ 5 76370827 76370827 __UNKNOWN__ 3'UTR SNP T T C rs1529460 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:76370827T>C ENST00000255198.2 - 0 3241 NM_032367.2 NP_115743.1 Q96IU2 ZBED3_HUMAN zinc finger, BED-type containing 3 NA NA negative regulation of protein phosphorylation (GO:0001933)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein stabilization (GO:0050821)|Wnt signaling pathway (GO:0016055) cytosol (GO:0005829)|membrane (GO:0016020) DNA binding (GO:0003677)|metal ion binding (GO:0046872) NA all_lung(232;0.00645)|Lung NSC(167;0.0135)|Ovarian(174;0.0798)|Prostate(461;0.121) OV - Ovarian serous cystadenocarcinoma(54;2.24e-51)|Epithelial(54;9.06e-46)|all cancers(79;2.48e-41) GGGTGGGATGTGGGGTTGAGT 0.493 NA C||| 1166 0.232827 0.1717 0.3285 5008 , , NA 22154 0.2808 NA 0.2952 False NA ,,, NA NA NA 2504 0.1339 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC007239 CCDS4036.1 5q13.2 2013-05-03 ENSG00000132846 ENSG00000132846 84327 Zinc fingers, BED-type 20711 protein-coding gene gene with protein product 615250 NA 23533661 Standard NM_032367 NM_032367 NA Approved MGC15435 uc003kev.1 Q96IU2 OTTHUMG00000102131 ENST00000255198.2:c.*2172A>G chr5.hg19:g.76370827T>C NA hg19 CCDS4036.1 0.02 6.551306 ATGxGGG COVERED NOVEL ZBED3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000219970.1 1 8.420969 KEEP 0 0 0 28 828 TT 0.999997 0.999997 0 - 6 60 218 0 0 13.540191 155 60 5430 228 ENST00000255198.2 0.037267 1 ZBED3 84327 __UNKNOWN__ __UNKNOWN__ 5 76373865 76373865 __UNKNOWN__ Intron SNP T T C rs6897542 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:76373865T>C ENST00000255198.2 - 3 348 NM_032367.2 NP_115743.1 Q96IU2 ZBED3_HUMAN zinc finger, BED-type containing 3 NA NA negative regulation of protein phosphorylation (GO:0001933)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein stabilization (GO:0050821)|Wnt signaling pathway (GO:0016055) cytosol (GO:0005829)|membrane (GO:0016020) DNA binding (GO:0003677)|metal ion binding (GO:0046872) NA all_lung(232;0.00645)|Lung NSC(167;0.0135)|Ovarian(174;0.0798)|Prostate(461;0.121) OV - Ovarian serous cystadenocarcinoma(54;2.24e-51)|Epithelial(54;9.06e-46)|all cancers(79;2.48e-41) AGTTTCTTTCTAATTAATCTT 0.383 NA T||| 1839 0.367212 0.2776 0.4236 5008 , , NA 15897 0.5496 NA 0.4085 False NA ,,, NA NA NA 2504 0.2178 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC007239 CCDS4036.1 5q13.2 2013-05-03 ENSG00000132846 ENSG00000132846 84327 Zinc fingers, BED-type 20711 protein-coding gene gene with protein product 615250 NA 23533661 Standard NM_032367 NM_032367 NA Approved MGC15435 uc003kev.1 Q96IU2 OTTHUMG00000102131 ENST00000255198.2:c.17-145A>G chr5.hg19:g.76373865T>C NA hg19 CCDS4036.1 0.02 4.012592 TTCxAAT COVERED NOVEL ZBED3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000219970.1 3 8.057849 KEEP 0 1 35 39 1204 TT 1 1 0 - 9 60 333 0 0 22.977835 135 60 4764 195 ENST00000255198.2 0.0625 1 WDR41 55255 __UNKNOWN__ __UNKNOWN__ 5 76733333 76733333 __UNKNOWN__ Intron SNP G G T rs542417420 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:76733333G>T ENST00000296679.4 - 11 1380 WDR41_ENST00000414719.2_Intron|WDR41_ENST00000507029.1_Intron NM_018268.2 NP_060738.2 Q9HAD4 WDR41_HUMAN WD repeat domain 41 NA NA lysosomal membrane (GO:0005765) NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5) 14 all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059) OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40) AATCAGTGGAGCCCTCAACTG 0.413 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF115511 CCDS4038.1 5q14 2013-01-09 ENSG00000164253 ENSG00000164253 55255 WD repeat domain containing 25601 protein-coding gene gene with protein product NA 12477932 Standard NM_018268 NM_018268 NA Approved FLJ10904 uc003kff.1 Q9HAD4 OTTHUMG00000102169 ENST00000296679.4:c.1005-84C>A chr5.hg19:g.76733333G>T NA B4DT55|Q7Z792|Q8IWG3|Q8IXA9|Q8NDA7|Q9NV62 hg19 CCDS4038.1 0.02 2.426893 GGAxCCC COVERED NOVEL WDR41-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000220014.2 1 4.599544 KEEP 0 1 7 18 579 GG 0.99986 0.99986 0 - 20 60 324 0 0 18.276098 115 60 3112 176 ENST00000296679.4 0.148148 1 BHMT 635 __UNKNOWN__ __UNKNOWN__ 5 78426729 78426729 __UNKNOWN__ Intron SNP C C G rs73769979 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:78426729C>G ENST00000274353.5 + 8 1144 BHMT_ENST00000524080.1_Intron|DMGDH_ENST00000520388.1_Intron NM_001713.2 NP_001704.2 Q93088 BHMT1_HUMAN betaine--homocysteine S-methyltransferase NA NA amino-acid betaine catabolic process (GO:0006579)|amino-acid betaine metabolic process (GO:0006577)|cellular nitrogen compound metabolic process (GO:0034641)|L-methionine salvage (GO:0071267)|protein methylation (GO:0006479)|regulation of homocysteine metabolic process (GO:0050666)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234) betaine-homocysteine S-methyltransferase activity (GO:0047150)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270) breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2) 29 all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36) L-Methionine(DB00134) AGTCTGTTGTCTGGTGTCATG 0.418 NA C||| 224 0.0447284 0.0446 0.0058 5008 , , NA 15529 0.0615 NA 0.0209 False NA ,,, NA NA NA 2504 0.0798 NA NA NA NA 0 C 189,4217 120.8+/-158.4 5,179,2019 102 107 105 0.4 0.1 5 dbSNP_130 105 226,8374 93.3+/-155.3 0,226,4074 no intron BHMT NM_001713.2 5,405,6093 GG,GC,CC 2.6279,4.2896,3.1908 78426729 415,12591 2203 4300 6503 SO:0001627 intron_variant BC012616 CCDS4046.1 5q14.1 2012-09-20 2010-04-28 ENSG00000145692 ENSG00000145692 635 2.1.1.5 1047 protein-coding gene gene with protein product betaine homocysteine methyltransferase 602888 NA 8798461, 9281325 Standard NM_001713 NM_001713 NA Approved BHMT1 uc003kfu.4 Q93088 OTTHUMG00000108157 ENST00000274353.5:c.1038-27C>G chr5.hg19:g.78426729C>G NA Q9UNI9 hg19 CCDS4046.1 0.02 1.710966 TGTxTGG COVERED NOVEL BHMT-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000226961.1 0 2.407736 KEEP 0 0 0 8 273 CC 0.99257 0.992533 0 + 4 60 138 0 0 8.421306 96 60 3444 111 ENST00000274353.5 0.04 0.999962 CMYA5 202333 __UNKNOWN__ __UNKNOWN__ 5 79026370 79026370 __UNKNOWN__ Missense_Mutation SNP T T G rs72635619 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:79026370T>G ENST00000446378.2 + 2 1813 c.1782T>G c.(1780-1782)ttT>ttG p.F594L NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 594 Glu-rich. NA negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733) costamere (GO:0043034) p.F594L(1) NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) GTTCTGCTTTTGTATCAGAGT 0.418 NA T||| 215 0.0429313 0.0 0.0014 5008 , , NA 21441 0.1359 NA 0.006 False NA ,,, NA NA NA 2504 0.0726 NA NA NA NA 1 Substitution - Missense(1) stomach(1) T LEU/PHE 2,3800 0,2,1899 220 214 216 1782 -4.3 0 5 dbSNP_130 216 49,8245 0,49,4098 yes missense CMYA5 NM_153610.3 22 0,51,5997 GG,GT,TT 0.5908,0.0526,0.4216 possibly-damaging 594/4070 79026370 51,12045 1901 4147 6048 SO:0001583 missense AW755254, AL831986 CCDS47238.1 5q14.1 2013-02-11 ENSG00000164309 ENSG00000164309 202333 Tripartite motif containing / Tripartite motif containing, A-kinase anchor proteins, Fibronectin type III domain containing 14305 protein-coding gene gene with protein product genethonin-3, tripartite motif-containing 76 612193 chromosome 5 open reading frame 10 C5orf10 NA 14688250 Standard NM_153610 NM_153610 NA Approved myospryn, SPRYD2, DKFZp451G223, TRIM76 uc003kgc.3 Q8N3K9 OTTHUMG00000162548 ENST00000446378.2:c.1782T>G chr5.hg19:g.79026370T>G ENSP00000394770:p.Phe594Leu NA A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88 hg19 CCDS47238.1 0.02 20.339315 TTTxGTA COVERED 101 0.04624542124542125 0 0.0 0 0.0 96 0.16783216783216784 5 0.006596306068601583 T 12.44 1.938899 0.34189 5.26E-4 0.005908 ENSG00000164309 ENST00000446378 T 0.62498 0.02 5.8 -4.33 0.03677 . 0.663946 0.13681 N 0.370197 T 0.00144 0.0004 L 0.36672 1.1 0.80722 P 0.0 B 0.28971 0.229 B 0.27608 0.081 T 0.04128 -1.0975 9 0.66056 D 0.02 . 3.0695 0.06225 0.126:0.3439:0.0968:0.4332 . 594 Q8N3K9 CMYA5_HUMAN L 594 ENSP00000394770:F594L ENSP00000394770:F594L F + 3 2 CMYA5 79062126 0.068000 0.21057 0.010000 0.14722 0.826000 0.46750 -0.175000 0.09825 -1.078000 0.03117 -1.434000 0.01081 TTT NOVEL CMYA5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000369497.1 2 21.063773 KEEP 0 0 0 70 2207 TT 1 1 0 + 15 60 542 0 0 32.372134 481 60 17364 650 ENST00000446378.2 0.030242 1 SERINC5 256987 __UNKNOWN__ __UNKNOWN__ 5 79473286 79473286 __UNKNOWN__ Intron SNP G G T rs6890275 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:79473286G>T ENST00000512721.1 - 4 531 SERINC5_ENST00000507668.2_Intron|SERINC5_ENST00000513907.1_Intron|SERINC5_ENST00000509193.1_Intron|SERINC5_ENST00000512972.2_Intron NM_001174072.1 NP_001167543.1 Q86VE9 SERC5_HUMAN serine incorporator 5 NA NA myelination (GO:0042552)|phosphatidylserine metabolic process (GO:0006658)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665) endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209) L-serine transmembrane transporter activity (GO:0015194) endometrium(3)|kidney(1)|lung(3)|ovary(1) 8 Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34) AAAGGACCTCGTAGAAGGTAC 0.418 NA T||| 1417 0.282947 0.6702 0.1585 5008 , , NA 20727 0.006 NA 0.1839 False NA ,,, NA NA NA 2504 0.2352 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF498273 CCDS54874.1 5q14.1 2014-01-28 2005-10-14 2005-10-14 ENSG00000164300 256987 18825 protein-coding gene gene with protein product 614551 chromosome 5 open reading frame 12 C5orf12 NA 12688535 Standard NM_178276 NM_178276 NA Approved TPO1 uc011ctj.2 Q86VE9 ENST00000512721.1:c.375-67C>A chr5.hg19:g.79473286G>T NA B4DMH7|Q495A4|Q495A6 hg19 CCDS54874.1 0.02 4.367873 CTCxTAG COVERED NOVEL SERINC5-001 NOVEL basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000369572.1 2 15.650443 KEEP 0 0 0 52 1825 GG 1 1 0 - 6 60 217 0 0 13.646427 143 60 5217 231 ENST00000512721.1 0.040268 1 SPZ1 84654 __UNKNOWN__ __UNKNOWN__ 5 79617357 79617357 __UNKNOWN__ 3'UTR SNP T T C rs16876315 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:79617357T>C ENST00000296739.4 + 0 1568 NM_032567.3 NP_115956.3 Q9BXG8 SPZ1_HUMAN spermatogenic leucine zipper 1 NA NA transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700) endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2) 26 Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36) AAAAGGTGAATCCTTAAAAAA 0.388 NA T||| 853 0.170327 0.0393 0.0865 5008 , , NA 17951 0.3631 NA 0.1501 False NA ,,, NA NA NA 2504 0.229 NA NA NA NA 0 T 178,3514 5,168,1673 21 20 21 1.9 0 5 dbSNP_123 21 1183,7011 76,1031,2990 no utr-3 SPZ1 NM_032567.3 81,1199,4663 CC,CT,TT 14.4374,4.8212,11.4504 79617357 1361,10525 1846 4097 5943 SO:0001624 3_prime_UTR_variant CCDS43336.1 5q14.1 2014-06-13 ENSG00000164299 84654 30721 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 148 NA 11165476, 12778315, 15226296, 15829580, 15899793 Standard NM_032567 NM_032567 NA Approved NYD-TSP1, FLJ25709, PPP1R148 uc003kgn.3 Q9BXG8 ENST00000296739.4:c.*30T>C chr5.hg19:g.79617357T>C NA B2RA21|Q8N4P1|Q8N7E9 hg19 CCDS43336.1 0.02 1.64612 GAAxCCT COVERED NOVEL SPZ1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000369322.1 1 3.610785 KEEP 0 0 0 12 378 TT 0.993634 0.993564 0 + 7 60 252 0 0 17.656377 89 60 3094 115 ENST00000296739.4 0.072917 0.99993 Unknown 0 __UNKNOWN__ __UNKNOWN__ 5 79647809 79647809 __UNKNOWN__ IGR SNP C C G rs12055120 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:79647809C>G NA NA SPZ1 (30148 upstream) : RNU6-211P (13735 downstream) NA NA NA cattttcgtactgctgtaaag 0.517 NA C||| 1192 0.238019 0.2126 0.1153 5008 , , NA 20790 0.3948 NA 0.161 False NA ,,, NA NA NA 2504 0.2771 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr5.hg19:g.79647809C>G NA hg19 0.02 4.156283 GTAxTGC COVERED NOVEL 0 1 12.039666 KEEP 0 0 0 40 1452 CC 1 1 0 9 60 333 0 0 23.149268 129 60 4903 213 0.065217 1 MSH3 4437 __UNKNOWN__ __UNKNOWN__ 5 79966029 79966029 __UNKNOWN__ Silent SNP G G A rs1805355 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:79966029G>A ENST00000265081.6 + 4 773 c.693G>A c.(691-693)ccG>ccA p.P231P NM_002439.4 NP_002430.3 P20585 MSH3_HUMAN mutS homolog 3 231 Interaction with EXO1. NA ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447) membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634) ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403) NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244) OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33) TCTATACGCCGCTAGAATTAC 0.378 NA Mismatch excision repair (MMR) G||| 916 0.182907 0.1974 0.2651 5008 , , NA 16920 0.3383 NA 0.0537 False NA ,,, NA NA NA 2504 0.0777 NA NA NA Melanoma(88;1010 1399 13793 26548 36275) NA 0 G 797,3609 319.3+/-296.1 66,665,1472 133 131 131 693 -6.6 0 5 dbSNP_92 131 524,8076 146.6+/-202.2 14,496,3790 no coding-synonymous MSH3 NM_002439.3 80,1161,5262 AA,AG,GG 6.093,18.089,10.1569 231/1138 79966029 1321,11685 2203 4300 6503 SO:0001819 synonymous_variant U61981 CCDS34195.1 5q11-q12 2013-09-12 2013-09-12 ENSG00000113318 ENSG00000113318 4437 7326 protein-coding gene gene with protein product Divergent upstream protein, Mismatch repair protein 1 600887 mutS (E. coli) homolog 3, mutS homolog 3 (E. coli) NA Standard NM_002439 NM_002439 NA Approved DUP, MRP1 uc003kgz.4 P20585 OTTHUMG00000162540 ENST00000265081.6:c.693G>A chr5.hg19:g.79966029G>A NA A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867 hg19 CCDS34195.1 0.02 6.121801 GCCxCTA COVERED NOVEL MSH3-001 KNOWN non_canonical_conserved|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000369471.1 3 15.951752 KEEP 0 0 0 53 1866 GG 1 1 0 + 6 60 215 0 0 13.007078 170 60 6063 286 ENST00000265081.6 0.034091 1 RASGRF2 5924 __UNKNOWN__ __UNKNOWN__ 5 80521371 80521371 __UNKNOWN__ Intron SNP A A T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:80521371A>T ENST00000265080.4 + 27 3688 CKMT2-AS1_ENST00000511495.1_RNA|CKMT2-AS1_ENST00000503483.2_RNA NM_006909.2 NP_008840.1 O14827 RGRF2_HUMAN Ras protein-specific guanine nucleotide-releasing factor 2 NA NA apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268) cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886) Rho guanyl-nucleotide exchange factor activity (GO:0005089) biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) CATATTTATGATTTTTTGGTC 0.343 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF023130 CCDS4052.1 5q13 2013-01-10 ENSG00000113319 ENSG00000113319 5924 Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing 9876 protein-coding gene gene with protein product 606614 NA Standard NM_006909 NM_006909 NA Approved GRF2, Ras-GRF2 uc003kha.2 O14827 OTTHUMG00000119015 ENST00000265080.4:c.3622-126A>T chr5.hg19:g.80521371A>T NA B9EG89|Q9UK56 hg19 CCDS4052.1 0.02 0.870084 ATGxTTT COVERED NOVEL RASGRF2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000239215.2 0 2.213522 KEEP 0 1 18 14 389 AA 0.99649 0.99641 0 + 11 60 223 0 0 13.150469 83 60 2589 139 ENST00000265080.4 0.117021 0.999919 XRCC4 7518 __UNKNOWN__ __UNKNOWN__ 5 82648943 82648943 __UNKNOWN__ Intron SNP G G A rs1805377 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:82648943G>A ENST00000282268.3 + 8 1068 XRCC4_ENST00000511817.1_Splice_Site|XRCC4_ENST00000396027.4_Intron|XRCC4_ENST00000338635.6_Splice_Site NM_003401.3|NM_022406.2|NM_022550.2 NP_003392.1|NP_071801.1|NP_072044.1 Q13426 XRCC4_HUMAN X-ray repair complementing defective repair in Chinese hamster cells 4 NA NA cellular response to lithium ion (GO:0071285)|central nervous system development (GO:0007417)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|immunoglobulin V(D)J recombination (GO:0033152)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of ligase activity (GO:0051351)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|T cell differentiation in thymus (GO:0033077)|viral process (GO:0016032) cell junction (GO:0030054)|centrosome (GO:0005813)|cytosol (GO:0005829)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) protein C-terminus binding (GO:0008022) endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(2)|skin(3) 17 Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034) OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28) TTTCTTTTCAGTTCTAGGCCT 0.343 NA Non-homologous end-joining A||| 1879 0.3752 0.4758 0.3329 5008 , , NA 16220 0.7044 NA 0.1402 False NA ,,, NA NA NA 2504 0.1718 NA NA NA NA 0 GRCh37 CS075240 XRCC4 S rs1805377 A ,, 1933,2469 591.6+/-387.6 422,1089,690 76 86 82 ,, -0.1 0.7 5 dbSNP_92 82 1052,7548 764.1+/-407.6 64,924,3312 yes intron,splice-3,intron XRCC4 NM_003401.3,NM_022406.2,NM_022550.2 ,, 486,2013,4002 AA,AG,GG 12.2326,43.9119,22.958 ,, ,, 82648943 2985,10017 2201 4300 6501 SO:0001627 intron_variant AB017445 CCDS4058.1, CCDS4059.1 5q14.2 2008-02-05 ENSG00000152422 ENSG00000152422 7518 12831 protein-coding gene gene with protein product X-ray repair, complementing defective, repair in Chinese hamster, DNA repair protein XRCC4 194363 NA 1697445, 7665175 Standard NM_022550 NM_022406 NA Approved uc003kib.3 Q13426 OTTHUMG00000131319 ENST00000282268.3:c.894-7G>A chr5.hg19:g.82648943G>A NA A8K3X4|Q9BS72|Q9UP94 hg19 CCDS4058.1 0.02 12.729672 TCAxTTC COVERED 858 0.39285714285714285 239 0.48577235772357724 115 0.31767955801104975 394 0.6888111888111889 110 0.14511873350923482 A 0.718 -0.784496 0.02907 0.439119 0.122326 ENSG00000152422 ENST00000338635;ENST00000511817;ENST00000514538 . . . 5.51 -0.0652 0.13769 . . . . . . . . . . . 0.58432 P 1.999999999946489E-6 . . . . . . . . . . . . . . 3.3151 0.07030 0.3839:0.0:0.2655:0.3506 rs1805377;rs3777014;rs61086000;rs1805377 . . . . -1 . . . + . . XRCC4 82684699 0.003000 0.15002 0.723000 0.30687 0.002000 0.02628 -0.958000 0.03857 -0.153000 0.11137 -2.023000 0.00429 . NOVEL XRCC4-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000369624.1 0 9.631757 KEEP 0 0 0 32 1162 GG 0.999997 0.999997 0 + 11 60 384 0 0 22.95939 308 60 11543 392 ENST00000282268.3 0.034483 1 XRCC4 7518 __UNKNOWN__ __UNKNOWN__ 5 82648977 82648977 __UNKNOWN__ Silent SNP T T G rs1056503 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:82648977T>G ENST00000282268.3 + 8 1096 c.921T>G c.(919-921)tcT>tcG p.S307S XRCC4_ENST00000511817.1_Silent_p.S309S|XRCC4_ENST00000396027.4_Silent_p.S307S|XRCC4_ENST00000338635.6_Silent_p.S309S NM_003401.3|NM_022406.2|NM_022550.2 NP_003392.1|NP_071801.1|NP_072044.1 Q13426 XRCC4_HUMAN X-ray repair complementing defective repair in Chinese hamster cells 4 309 NA cellular response to lithium ion (GO:0071285)|central nervous system development (GO:0007417)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|immunoglobulin V(D)J recombination (GO:0033152)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of ligase activity (GO:0051351)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|T cell differentiation in thymus (GO:0033077)|viral process (GO:0016032) cell junction (GO:0030054)|centrosome (GO:0005813)|cytosol (GO:0005829)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) protein C-terminus binding (GO:0008022) endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(2)|skin(3) 17 Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034) OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28) CTGAGACGTCTAAAAAGGAGC 0.338 NA Non-homologous end-joining G||| 1881 0.375599 0.4758 0.3329 5008 , , NA 17355 0.7063 NA 0.1402 False NA ,,, NA NA NA 2504 0.1718 NA NA NA NA 0 G ,, 1942,2464 617.9+/-393.1 424,1094,685 113 123 120 921,927,921 1.1 0 5 dbSNP_86 120 1055,7543 768.5+/-407.6 63,929,3307 no coding-synonymous,coding-synonymous,coding-synonymous XRCC4 NM_003401.3,NM_022406.2,NM_022550.2 ,, 487,2023,3992 GG,GT,TT 12.2703,44.0763,23.0468 ,, 307/335,309/337,307/335 82648977 2997,10007 2203 4299 6502 SO:0001819 synonymous_variant AB017445 CCDS4058.1, CCDS4059.1 5q14.2 2008-02-05 ENSG00000152422 ENSG00000152422 7518 12831 protein-coding gene gene with protein product X-ray repair, complementing defective, repair in Chinese hamster, DNA repair protein XRCC4 194363 NA 1697445, 7665175 Standard NM_022550 NM_022406 NA Approved uc003kib.3 Q13426 OTTHUMG00000131319 ENST00000282268.3:c.921T>G chr5.hg19:g.82648977T>G NA A8K3X4|Q9BS72|Q9UP94 hg19 CCDS4058.1 0.02 17.600985 GTCxAAA COVERED NOVEL XRCC4-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000369624.1 1 15.646078 KEEP 0 0 0 52 1629 TT 1 1 0 + 15 60 535 0 0 32.541821 407 60 15211 596 ENST00000282268.3 0.035545 1 VCAN 1462 __UNKNOWN__ __UNKNOWN__ 5 82808072 82808072 __UNKNOWN__ Missense_Mutation SNP C C T rs2652098 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:82808072C>T ENST00000502527.2 + 6 1004 c.899C>T c.(898-900)tCg>tTg p.S300L VCAN_ENST00000512590.2_Missense_Mutation_p.S252L|VCAN_ENST00000343200.5_Missense_Mutation_p.S300L|VCAN_ENST00000265077.3_Missense_Mutation_p.S300L|VCAN_ENST00000513984.1_Missense_Mutation_p.S300L|VCAN_ENST00000342785.4_Missense_Mutation_p.S300L P13611 CSPG2_HUMAN versican 300 Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}. NA S -> L (in dbSNP:rs2652098). carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281) extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578) calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540) p.S300L(1) NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) Hyaluronan(DB08818) GGGTGGCTGTCGGATGCCAGC 0.597 NA C||| 364 0.0726837 0.003 0.0014 5008 , , NA 15781 0.2272 NA 0.008 False NA ,,, NA NA NA 2504 0.1247 NA NA NA NA 1 Substitution - Missense(1) stomach(1) C LEU/SER,LEU/SER,LEU/SER,LEU/SER 18,4388 26.2+/-53.5 0,18,2185 78 68 72 899,899,899,899 -3.8 0 5 dbSNP_100 72 52,8548 32.8+/-85.7 0,52,4248 yes missense,missense,missense,missense VCAN NM_001126336.2,NM_001164097.1,NM_001164098.1,NM_004385.4 145,145,145,145 0,70,6433 TT,TC,CC 0.6047,0.4085,0.5382 benign,benign,benign,benign 300/656,300/2410,300/1643,300/3397 82808072 70,12936 2203 4300 6503 SO:0001583 missense X15998 CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1 5q14.2-q14.3 2013-05-07 2007-02-15 2007-02-15 ENSG00000038427 ENSG00000038427 1462 Immunoglobulin superfamily / V-set domain containing, Proteoglycans / Extracellular Matrix : Hyalectans 2464 protein-coding gene gene with protein product versican proteoglycan 118661 chondroitin sulfate proteoglycan 2 CSPG2 NA 1478664, 21063030 Standard NM_004385 NM_004385 NA Approved PG-M uc003kii.3 P13611 OTTHUMG00000131321 ENST00000502527.2:c.899C>T chr5.hg19:g.82808072C>T ENSP00000421362:p.Ser300Leu NA P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5 hg19 CCDS47242.1 0.02 7.903374 TGTxGGA COVERED 111 0.050824175824175824 2 0.0040650406504065045 0 0.0 104 0.18181818181818182 5 0.006596306068601583 C 9.944 1.218376 0.22373 0.004085 0.006047 ENSG00000038427 ENST00000265077;ENST00000343200;ENST00000342785;ENST00000512590;ENST00000513960;ENST00000513984;ENST00000502527 T;T;T;T;T;T;T 0.11495 2.77;2.77;2.77;2.77;2.77;2.77;2.77 5.49 -3.8 0.04307 C-type lectin fold (1);Link (4);C-type lectin-like (1); 0.650925 0.13547 N 0.379746 T 0.00039 0.0001 M 0.65498 2.005 0.80722 P 0.0 B;B;B;B;B 0.17667 0.009;0.004;0.023;0.01;0.016 B;B;B;B;B 0.19666 0.013;0.006;0.007;0.009;0.026 T 0.22173 -1.0224 9 0.41790 T 0.15 . 7.226 0.26016 0.0995:0.4974:0.0:0.4032 rs2652098;rs3734097;rs2652098 300;300;300;300;300 P13611-3;P13611-4;P13611-2;P13611;Q86W61 .;.;.;CSPG2_HUMAN;. L 300;300;300;252;300;300;300 ENSP00000265077:S300L;ENSP00000340062:S300L;ENSP00000342768:S300L;ENSP00000425959:S252L;ENSP00000426251:S300L;ENSP00000426715:S300L;ENSP00000421362:S300L ENSP00000265077:S300L S + 2 0 VCAN 82843828 0.606000 0.26949 0.000000 0.03702 0.348000 0.29142 1.285000 0.33261 -1.377000 0.02123 -0.471000 0.05019 TCG NOVEL VCAN-005 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000369622.3 0 16.249789 KEEP 0 0 0 54 1762 CC 1 1 0 + 7 60 254 0 0 15.088959 227 60 7960 320 ENST00000502527.2 0.029915 1 VCAN 1462 __UNKNOWN__ __UNKNOWN__ 5 82868173 82868173 __UNKNOWN__ Intron SNP G G A rs309585 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:82868173G>A ENST00000502527.2 + 11 1617 VCAN_ENST00000512590.2_Intron|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000265077.3_Intron|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000513016.1_Intron|VCAN_ENST00000342785.4_Intron P13611 CSPG2_HUMAN versican NA NA carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281) extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578) calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540) NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) Hyaluronan(DB08818) ATATAATACCGTCGTTGCTCT 0.373 NA G||| 1257 0.250998 0.3079 0.3184 5008 , , NA 18785 0.2639 NA 0.2485 False NA ,,, NA NA NA 2504 0.1155 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X15998 CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1 5q14.2-q14.3 2013-05-07 2007-02-15 2007-02-15 ENSG00000038427 ENSG00000038427 1462 Immunoglobulin superfamily / V-set domain containing, Proteoglycans / Extracellular Matrix : Hyalectans 2464 protein-coding gene gene with protein product versican proteoglycan 118661 chondroitin sulfate proteoglycan 2 CSPG2 NA 1478664, 21063030 Standard NM_004385 NM_004385 NA Approved PG-M uc003kii.3 P13611 OTTHUMG00000131321 ENST00000502527.2:c.1513-62G>A chr5.hg19:g.82868173G>A NA P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5 hg19 CCDS47242.1 0.02 8.861965 ACCxTCG COVERED NOVEL VCAN-005 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000369622.3 3 4.248051 KEEP 0 1 34 26 844 GG 0.999988 0.999988 0 + 10 60 361 0 0 23.555005 194 60 6240 249 ENST00000502527.2 0.04902 1 EDIL3 10085 __UNKNOWN__ __UNKNOWN__ 5 83238496 83238496 __UNKNOWN__ 3'UTR SNP G G A rs12522953 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:83238496G>A ENST00000296591.5 - 0 2603 EDIL3_ENST00000380138.3_3'UTR NM_005711.3 NP_005702.3 O43854 EDIL3_HUMAN EGF-like repeats and discoidin I-like domains 3 NA NA cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811) extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982) calcium ion binding (GO:0005509)|integrin binding (GO:0005178) cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3) 31 Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425) OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26) ATTAAATACAGATCAATCTAC 0.264 NA G||| 652 0.130192 0.0431 0.1513 5008 , , NA 13275 0.2738 NA 0.1153 False NA ,,, NA NA NA 2504 0.1002 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U70312 CCDS4062.1, CCDS64195.1 5q14 2008-02-05 ENSG00000164176 ENSG00000164176 10085 3173 protein-coding gene gene with protein product 606018 NA 9420328 Standard NM_005711 NM_005711 NA Approved DEL1 uc003kio.1 O43854 OTTHUMG00000119047 ENST00000296591.5:c.*742C>T chr5.hg19:g.83238496G>A NA B2R763|O43855|Q5D094|Q8N610 hg19 CCDS4062.1 0.02 7.571753 ACAxATC COVERED NOVEL EDIL3-001 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000239258.1 2 7.825006 KEEP 0 0 0 26 890 GG 0.999957 0.999957 0 - 7 60 248 0 0 14.592964 219 60 8245 292 ENST00000296591.5 0.030973 1 CCNH 902 __UNKNOWN__ __UNKNOWN__ 5 86695274 86695274 __UNKNOWN__ Missense_Mutation SNP A A G rs2234944|rs2230641 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:86695274A>G ENST00000504878.1 - 7 1161 c.587T>C c.(586-588)gTt>gCt p.V196A CCNH_ENST00000256897.4_Missense_Mutation_p.V270A|CCNH_ENST00000508855.1_Missense_Mutation_p.V196A NM_001199189.1 NP_001186118.1 P51946 CCNH_HUMAN cyclin H 270 NA 7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032) cyclin-dependent protein kinase activating kinase holoenzyme complex (GO:0019907)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|TFIIK complex (GO:0070985) cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)|kinase activity (GO:0016301) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(2) 15 all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423) OV - Ovarian serous cystadenocarcinoma(54;9.01e-39)|Epithelial(54;5.08e-33)|all cancers(79;4.28e-28) CAGAACAGCAACTTCTTCAGA 0.368 NA Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER) A||| 600 0.119808 0.0582 0.134 5008 , , NA 20930 0.0804 NA 0.2207 False NA ,,, NA NA NA 2504 0.1299 NA NA NA NA 0 A ALA/VAL,ALA/VAL 353,4053 181.9+/-209.8 11,331,1861 233 205 215 650,809 5.7 1 5 dbSNP_98 215 1925,6675 340.0+/-323.4 227,1471,2602 yes missense,missense CCNH NM_001199189.1,NM_001239.3 64,64 238,1802,4463 GG,GA,AA 22.3837,8.0118,17.515 probably-damaging,probably-damaging 217/271,270/324 86695274 2278,10728 2203 4300 6503 SO:0001583 missense U12685 CCDS4064.1 5q13.3-q14 2014-03-28 ENSG00000134480 ENSG00000134480 902 General transcription factor IIH complex subunits 1594 protein-coding gene gene with protein product CDK-activating kinase complex subunit, cyclin-dependent kinase-activating kinase complex subunit, MO15-associated protein, CAK complex subunit 601953 NA 9465303 Standard NM_001239 NM_001239 NA Approved p34, p37, CycH uc003kjb.3 P51946 OTTHUMG00000119077 ENST00000504878.1:c.587T>C chr5.hg19:g.86695274A>G ENSP00000426075:p.Val196Ala NA Q53X72|Q8TBL9 hg19 0.02 13.504938 GCAxCTT COVERED 301 0.13782051282051283 28 0.056910569105691054 50 0.13812154696132597 47 0.08216783216783216 176 0.23218997361477572 A 28.6 4.934189 0.92458 0.080118 0.223837 ENSG00000134480 ENST00000508855;ENST00000256897;ENST00000504878 T;T;T 0.48522 0.81;0.81;0.81 5.68 5.68 0.88126 Cyclin-like (1); 0.000000 0.85682 D 0.000000 T 0.00073 0.0002 M 0.87547 2.89 0.09310 P 0.999999999774506 D;P 0.54207 0.965;0.94 P;P 0.57324 0.711;0.818 T 0.00494 -1.1706 9 0.39692 T 0.17 -23.5982 15.9323 0.79672 1.0:0.0:0.0:0.0 rs2230641;rs2266690;rs3093826;rs17845686;rs17858626;rs52806744;rs3765057;rs2266690 270;217 P51946;E9PDB6 CCNH_HUMAN;. A 196;270;196 ENSP00000426454:V196A;ENSP00000256897:V270A;ENSP00000426075:V196A ENSP00000256897:V270A V - 2 0 CCNH 86731030 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 8.448000 0.90335 2.175000 0.68902 0.533000 0.62120 GTT NOVEL CCNH-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000369736.2 0 36.743578 KEEP 0 1 37 135 4314 AA 1 1 0 - 9 60 345 0 0 20.832415 324 60 11815 623 ENST00000504878.1 0.027027 1 MEF2C-AS1 101929423 __UNKNOWN__ __UNKNOWN__ 5 88213932 88213932 __UNKNOWN__ RNA SNP G G A rs6452802 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:88213932G>A ENST00000514011.1 + 0 208 MEF2C-AS1_ENST00000509179.1_RNA|MEF2C-AS1_ENST00000514158.1_RNA|MEF2C-AS1_ENST00000511100.1_RNA|MEF2C-AS1_ENST00000514794.1_RNA|MEF2C-AS1_ENST00000513704.1_RNA|MEF2C-AS1_ENST00000514092.1_RNA|MEF2C-AS1_ENST00000506665.1_RNA|MEF2C-AS1_ENST00000508718.1_RNA|MEF2C-AS1_ENST00000512585.1_RNA NR_104031.1 MEF2C antisense RNA 1 NA NA NA AGATTTTGACGTATGATTAAG 0.269 NA G||| 261 0.0521166 0.1702 0.0187 5008 , , NA 20866 0.006 NA 0.003 False NA ,,, NA NA NA 2504 0.0143 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA CD702404 5q14.3 2014-01-06 ENSG00000248309 ENSG00000248309 101929423 Long non-coding RNAs 48908 non-coding RNA RNA, long non-coding NA 23801869 Standard NR_104031 NA Approved OTTHUMG00000162630 ENST00000514011.1: chr5.hg19:g.88213932G>A NA hg19 0.02 19.213959 GACxTAT COVERED NOVEL MEF2C-AS1-001 KNOWN basic antisense NA antisense OTTHUMT00000369795.1 4 24.076574 KEEP 17 0 0 80 2735 GG 1 1 0 + 15 60 557 0 0 34.093587 450 60 15881 680 ENST00000514011.1 0.032258 1 CETN3 1070 __UNKNOWN__ __UNKNOWN__ 5 89703641 89703641 __UNKNOWN__ Missense_Mutation SNP C C G rs4873 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:89703641C>G ENST00000522083.1 - 2 123 c.28G>C c.(28-30)Gta>Cta p.V10L CETN3_ENST00000283122.3_Missense_Mutation_p.V10L|CETN3_ENST00000522565.1_Missense_Mutation_p.V10L|CETN3_ENST00000522864.1_Missense_Mutation_p.V10L|CETN3_ENST00000522842.1_Missense_Mutation_p.V10L O15182 CETN3_HUMAN centrin, EF-hand protein, 3 10 NA V -> L (in dbSNP:rs4873). {ECO:0000269|PubMed:9256449}. centrosome cycle (GO:0007098)|mitotic nuclear division (GO:0007067) centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|photoreceptor connecting cilium (GO:0032391) calcium ion binding (GO:0005509) lung(3) 3 all_cancers(142;7.93e-09)|all_epithelial(76;2.13e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(54;1.42e-32)|Epithelial(54;1.45e-26)|all cancers(79;2.87e-23) TTGTCCACTACAAGCTCACTT 0.308 NA C||| 928 0.185304 0.0628 0.1585 5008 , , NA 15964 0.2034 NA 0.2565 False NA ,,, NA NA NA 2504 0.2781 NA NA NA NA 0 C LEU/VAL 412,3990 201.5+/-224.5 20,372,1809 110 105 107 28 3.6 1 5 dbSNP_52 107 2314,6276 386.4+/-341.8 302,1710,2283 yes missense CETN3 NM_004365.2 32 322,2082,4092 GG,GC,CC 26.9383,9.3594,20.9821 benign 10/168 89703641 2726,10266 2201 4295 6496 SO:0001583 missense Y12473 CCDS4066.1, CCDS75274.1 5q14.3 2013-01-10 2010-06-24 ENSG00000153140 ENSG00000153140 1070 EF-hand domain containing 1868 protein-coding gene gene with protein product CDC31 yeast homolog, EF-hand superfamily member 602907 centrin, EF-hand protein, 3 (CDC31 yeast homolog) NA 9256449 Standard NM_004365 XM_006714521 NA Approved CEN3 uc003kjo.3 O15182 OTTHUMG00000131326 ENST00000522083.1:c.28G>C chr5.hg19:g.89703641C>G ENSP00000428259:p.Val10Leu NA Q53YD2|Q9BS23 hg19 0.02 7.719615 CTAxAAG COVERED 384 0.17582417582417584 21 0.042682926829268296 62 0.1712707182320442 115 0.20104895104895104 186 0.24538258575197888 C 12.02 1.812032 0.32053 0.093594 0.269383 ENSG00000153140 ENST00000283122;ENST00000522083;ENST00000522864;ENST00000522565;ENST00000522842 T;T;T;T;T 0.73575 -0.13;-0.68;-0.76;-0.52;-0.57 5.44 3.64 0.41730 . 0.482638 0.19205 N 0.120077 T 0.00012 0.0000 N 0.08118 0 0.39683 P 0.029067999999999983 B 0.02656 0.0 B 0.04013 0.001 T 0.05099 -1.0906 9 0.08599 T 0.76 . 8.0433 0.30534 0.2979:0.6252:0.0:0.0769 rs4873;rs12243;rs1129126;rs3186654;rs11554604;rs17342999;rs17354731;rs52803027;rs4873 10 O15182 CETN3_HUMAN L 10 ENSP00000283122:V10L;ENSP00000428259:V10L;ENSP00000430361:V10L;ENSP00000430409:V10L;ENSP00000429875:V10L ENSP00000283122:V10L V - 1 0 CETN3 89739397 1.000000 0.71417 1.000000 0.80357 0.984000 0.73092 2.485000 0.45250 0.643000 0.30638 0.561000 0.74099 GTA NOVEL CETN3-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000381353.2 1 21.069395 KEEP 0 0 0 70 2528 CC 1 1 0 - 7 60 278 0 0 18.795726 146 60 5616 297 ENST00000522083.1 0.045752 1 GPR98 84059 __UNKNOWN__ __UNKNOWN__ 5 89940489 89940489 __UNKNOWN__ Intron SNP C C G rs16868901 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:89940489C>G ENST00000405460.2 + 15 2830 NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 NA NA detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601) cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142) calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930) NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TTTCGTATGTCTTCATATGTA 0.318 NA G||| 1206 0.240815 0.2194 0.1542 5008 , , NA 16190 0.4107 NA 0.164 False NA ,,, NA NA NA 2504 0.2352 NA NA NA NA 0 G 725,2957 73,579,1189 161 148 152 -6.1 0 5 dbSNP_123 152 1287,6881 91,1105,2888 no intron GPR98 NM_032119.3 164,1684,4077 GG,GC,CC 15.7566,19.6904,16.9789 89940489 2012,9838 1841 4084 5925 SO:0001627 intron_variant AB014586 CCDS47246.1 5q13 2014-08-08 2006-05-26 2006-05-26 ENSG00000164199 ENSG00000164199 84059 -, GPCR / Class B : Orphans 17416 protein-coding gene gene with protein product 602851 monogenic, audiogenic seizure susceptibility 1 homolog (mouse) USH2C, MASS1 NA 10976914, 14740321 Standard NM_032119 NM_032119 NA Approved DKFZp761P0710, KIAA0686, FEB4, VLGR1b uc003kju.3 Q8WXG9 OTTHUMG00000162668 ENST00000405460.2:c.2735-34C>G chr5.hg19:g.89940489C>G NA O75171|Q8TF58|Q9H0X5|Q9UL61 hg19 CCDS47246.1 0.02 8.906921 TGTxTTC COVERED NOVEL GPR98-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000369993.2 0 6.018935 KEEP 0 0 0 20 681 CC 0.999863 0.999863 0 + 7 60 267 0 0 16.395831 226 60 8460 282 ENST00000405460.2 0.030043 1 GPR98 84059 __UNKNOWN__ __UNKNOWN__ 5 89941743 89941743 __UNKNOWN__ Intron SNP T T C rs2366776 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:89941743T>C ENST00000405460.2 + 16 2994 NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 NA NA detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601) cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142) calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930) NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) GTAATTTATATGTATAAGTCA 0.328 NA T||| 1250 0.249601 0.2284 0.1628 5008 , , NA 14513 0.4018 NA 0.1759 False NA ,,, NA NA NA 2504 0.2587 NA NA NA NA 0 T 740,2860 73,594,1133 33 31 32 1.6 0 5 dbSNP_100 32 1395,6745 110,1175,2785 no intron GPR98 NM_032119.3 183,1769,3918 CC,CT,TT 17.1376,20.5556,18.1857 89941743 2135,9605 1800 4070 5870 SO:0001627 intron_variant AB014586 CCDS47246.1 5q13 2014-08-08 2006-05-26 2006-05-26 ENSG00000164199 ENSG00000164199 84059 -, GPCR / Class B : Orphans 17416 protein-coding gene gene with protein product 602851 monogenic, audiogenic seizure susceptibility 1 homolog (mouse) USH2C, MASS1 NA 10976914, 14740321 Standard NM_032119 NM_032119 NA Approved DKFZp761P0710, KIAA0686, FEB4, VLGR1b uc003kju.3 Q8WXG9 OTTHUMG00000162668 ENST00000405460.2:c.2899-42T>C chr5.hg19:g.89941743T>C NA O75171|Q8TF58|Q9H0X5|Q9UL61 hg19 CCDS47246.1 0.02 2.168082 ATAxGTA COVERED NOVEL GPR98-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000369993.2 0 3.911584 KEEP 0 0 0 13 399 TT 0.994391 0.993801 0 + 6 60 224 0 0 15.942732 76 60 2729 102 ENST00000405460.2 0.073171 0.999407 GPR98 84059 __UNKNOWN__ __UNKNOWN__ 5 89943433 89943433 __UNKNOWN__ Silent SNP A A G rs950692 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:89943433A>G ENST00000405460.2 + 17 3237 c.3141A>G c.(3139-3141)gcA>gcG p.A1047A NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 1047 Calx-beta 8. {ECO:0000255}. NA detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601) cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142) calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930) NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) AGGCTACTGCAAGAGAGAGAG 0.418 NA A||| 1109 0.221446 0.202 0.1499 5008 , , NA 21175 0.379 NA 0.1412 False NA ,,, NA NA NA 2504 0.2188 NA NA NA NA 0 A 671,3163 59,553,1305 178 167 171 3141 -4.3 0 5 dbSNP_86 171 1078,7178 54,970,3104 no coding-synonymous GPR98 NM_032119.3 113,1523,4409 GG,GA,AA 13.0572,17.5013,14.4665 1047/6307 89943433 1749,10341 1917 4128 6045 SO:0001819 synonymous_variant AB014586 CCDS47246.1 5q13 2014-08-08 2006-05-26 2006-05-26 ENSG00000164199 ENSG00000164199 84059 -, GPCR / Class B : Orphans 17416 protein-coding gene gene with protein product 602851 monogenic, audiogenic seizure susceptibility 1 homolog (mouse) USH2C, MASS1 NA 10976914, 14740321 Standard NM_032119 NM_032119 NA Approved DKFZp761P0710, KIAA0686, FEB4, VLGR1b uc003kju.3 Q8WXG9 OTTHUMG00000162668 ENST00000405460.2:c.3141A>G chr5.hg19:g.89943433A>G NA O75171|Q8TF58|Q9H0X5|Q9UL61 hg19 CCDS47246.1 0.02 23.067618 TGCxAGA COVERED 456 0.2087912087912088 102 0.2073170731707317 56 0.15469613259668508 192 0.3356643356643357 106 0.13984168865435356 A 0.329 -0.957255 0.02267 0.175013 0.130572 ENSG00000164199 ENST00000504142 . . . 5.49 -4.27 0.03744 . . . . . T 0.00012 0.0000 . . . 0.50813 P 1.0799999999999699E-4 . . . . . . T 0.45687 -0.9244 3 . . . . 0.4523 0.00503 0.3572:0.1875:0.1395:0.3158 rs950692;rs16868914;rs950692 . . . E 636 . . K + 1 0 GPR98 89979189 0.000000 0.05858 0.000000 0.03702 0.029000 0.11900 -1.132000 0.03235 -0.196000 0.10366 -0.263000 0.10527 AAG NOVEL GPR98-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000369993.2 1 12.333802 KEEP 0 0 0 41 1230 AA 1 1 0 + 18 60 667 1 0 41.42668 496 60 18124 657 ENST00000405460.2 0.035019 1 GPR98 84059 __UNKNOWN__ __UNKNOWN__ 5 89950752 89950752 __UNKNOWN__ Intron SNP G G A rs41308295 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:89950752G>A ENST00000405460.2 + 20 4474 NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 NA NA detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601) cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142) calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930) NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) ATTGGGGGAAGTGGGAGCTGG 0.368 NA G||| 919 0.183506 0.0726 0.1383 5008 , , NA 15813 0.3671 NA 0.1412 False NA ,,, NA NA NA 2504 0.2198 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB014586 CCDS47246.1 5q13 2014-08-08 2006-05-26 2006-05-26 ENSG00000164199 ENSG00000164199 84059 -, GPCR / Class B : Orphans 17416 protein-coding gene gene with protein product 602851 monogenic, audiogenic seizure susceptibility 1 homolog (mouse) USH2C, MASS1 NA 10976914, 14740321 Standard NM_032119 NM_032119 NA Approved DKFZp761P0710, KIAA0686, FEB4, VLGR1b uc003kju.3 Q8WXG9 OTTHUMG00000162668 ENST00000405460.2:c.4378+983G>A chr5.hg19:g.89950752G>A NA O75171|Q8TF58|Q9H0X5|Q9UL61 hg19 CCDS47246.1 0.02 4.317355 GAAxTGG COVERED NOVEL GPR98-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000369993.2 2 4.213633 KEEP 0 0 0 14 486 GG 0.995343 0.995343 0 + 6 60 224 0 0 14.665958 126 60 4752 177 ENST00000405460.2 0.045455 1 GPR98 84059 __UNKNOWN__ __UNKNOWN__ 5 89951441 89951441 __UNKNOWN__ Intron SNP T T C rs61525440 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:89951441T>C ENST00000405460.2 + 20 4474 NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 NA NA detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601) cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142) calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930) NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) ataatgcctatcctttttcca 0.373 NA T||| 1110 0.221645 0.2005 0.1585 5008 , , NA 17238 0.3661 NA 0.1521 False NA ,,, NA NA NA 2504 0.2178 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB014586 CCDS47246.1 5q13 2014-08-08 2006-05-26 2006-05-26 ENSG00000164199 ENSG00000164199 84059 -, GPCR / Class B : Orphans 17416 protein-coding gene gene with protein product 602851 monogenic, audiogenic seizure susceptibility 1 homolog (mouse) USH2C, MASS1 NA 10976914, 14740321 Standard NM_032119 NM_032119 NA Approved DKFZp761P0710, KIAA0686, FEB4, VLGR1b uc003kju.3 Q8WXG9 OTTHUMG00000162668 ENST00000405460.2:c.4378+1672T>C chr5.hg19:g.89951441T>C NA O75171|Q8TF58|Q9H0X5|Q9UL61 hg19 CCDS47246.1 0.02 6.477379 CTAxCCT COVERED NOVEL GPR98-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000369993.2 0 6.317209 KEEP 0 0 0 21 652 TT 0.999869 0.999869 0 + 6 60 221 0 0 13.532119 175 60 6334 222 ENST00000405460.2 0.033149 1 GPR98 84059 __UNKNOWN__ __UNKNOWN__ 5 89979691 89979691 __UNKNOWN__ Missense_Mutation SNP A A G rs41303352 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:89979691A>G ENST00000405460.2 + 28 6049 c.5953A>G c.(5953-5955)Aac>Gac p.N1985D NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 1985 Calx-beta 14. {ECO:0000255}. NA N -> D (in dbSNP:rs41303352). {ECO:0000269|PubMed:14740321}. detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601) cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142) calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930) NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TTCTGAGAAAAACAGACCTGT 0.398 NA A||| 1386 0.276757 0.3585 0.1729 5008 , , NA 18886 0.4335 NA 0.1402 False NA ,,, NA NA NA 2504 0.2188 NA NA NA NA 0 A ASP/ASN 1176,2548 179,818,865 83 74 77 5953 4.5 1 5 dbSNP_127 77 1082,7128 53,976,3076 yes missense GPR98 NM_032119.3 23 232,1794,3941 GG,GA,AA 13.179,31.5789,18.9207 benign 1985/6307 89979691 2258,9676 1862 4105 5967 SO:0001583 missense AB014586 CCDS47246.1 5q13 2014-08-08 2006-05-26 2006-05-26 ENSG00000164199 ENSG00000164199 84059 -, GPCR / Class B : Orphans 17416 protein-coding gene gene with protein product 602851 monogenic, audiogenic seizure susceptibility 1 homolog (mouse) USH2C, MASS1 NA 10976914, 14740321 Standard NM_032119 NM_032119 NA Approved DKFZp761P0710, KIAA0686, FEB4, VLGR1b uc003kju.3 Q8WXG9 OTTHUMG00000162668 ENST00000405460.2:c.5953A>G chr5.hg19:g.89979691A>G ENSP00000384582:p.Asn1985Asp NA O75171|Q8TF58|Q9H0X5|Q9UL61 hg19 CCDS47246.1 0.02 8.112099 AAAxACA COVERED 553 0.2532051282051282 168 0.34146341463414637 65 0.17955801104972377 214 0.3741258741258741 106 0.13984168865435356 A 14.45 2.539780 0.45176 0.315789 0.13179 ENSG00000164199 ENST00000405460;ENST00000296619;ENST00000399043 T 0.29142 1.58 5.71 4.52 0.55395 Na-Ca exchanger/integrin-beta4 (2); 0.179034 0.64402 N 0.000016 T 0.00012 0.0000 L 0.37561 1.115 0.09310 P 1.0 B 0.10296 0.003 B 0.15052 0.012 T 0.42649 -0.9439 9 0.30078 T 0.28 . 11.8275 0.52275 0.9307:0.0:0.0693:0.0 rs41303352;rs61753908 1985 Q8WXG9 GPR98_HUMAN D 1985 ENSP00000384582:N1985D ENSP00000296619:N1985D N + 1 0 GPR98 90015447 1.000000 0.71417 0.983000 0.44433 0.812000 0.45895 4.033000 0.57282 0.962000 0.38057 0.482000 0.46254 AAC NOVEL GPR98-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000369993.2 1 6.318245 KEEP 0 0 0 21 652 AA 0.999869 0.999869 0 + 9 60 334 0 0 20.96748 235 60 8284 286 ENST00000405460.2 0.036885 1 GPR98 84059 __UNKNOWN__ __UNKNOWN__ 5 89979750 89979750 __UNKNOWN__ Missense_Mutation SNP G G T rs16868972 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:89979750G>T ENST00000405460.2 + 28 6108 c.6012G>T c.(6010-6012)ttG>ttT p.L2004F NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 2004 Calx-beta 14. {ECO:0000255}. NA L -> F (in dbSNP:rs16868972). {ECO:0000269|PubMed:14740321}. detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601) cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142) calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930) NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TAATAAGGTTGAAAGGCCTCA 0.378 NA G||| 1571 0.313698 0.4599 0.1945 5008 , , NA 19939 0.4335 NA 0.1561 False NA ,,, NA NA NA 2504 0.2393 NA NA NA NA 0 G PHE/LEU 1557,2165 324,909,628 59 55 56 6012 3.5 1 5 dbSNP_123 56 1183,7013 69,1045,2984 yes missense GPR98 NM_032119.3 22 393,1954,3612 TT,TG,GG 14.4339,41.8323,22.9904 probably-damaging 2004/6307 89979750 2740,9178 1861 4098 5959 SO:0001583 missense AB014586 CCDS47246.1 5q13 2014-08-08 2006-05-26 2006-05-26 ENSG00000164199 ENSG00000164199 84059 -, GPCR / Class B : Orphans 17416 protein-coding gene gene with protein product 602851 monogenic, audiogenic seizure susceptibility 1 homolog (mouse) USH2C, MASS1 NA 10976914, 14740321 Standard NM_032119 NM_032119 NA Approved DKFZp761P0710, KIAA0686, FEB4, VLGR1b uc003kju.3 Q8WXG9 OTTHUMG00000162668 ENST00000405460.2:c.6012G>T chr5.hg19:g.89979750G>T ENSP00000384582:p.Leu2004Phe NA O75171|Q8TF58|Q9H0X5|Q9UL61 hg19 CCDS47246.1 0.02 12.653654 GTTxAAA COVERED 630 0.28846153846153844 224 0.45528455284552843 71 0.19613259668508287 214 0.3741258741258741 121 0.15963060686015831 G 16.75 3.208973 0.58343 0.418323 0.144339 ENSG00000164199 ENST00000405460;ENST00000296619;ENST00000399043 T 0.30714 1.52 5.71 3.48 0.39840 Na-Ca exchanger/integrin-beta4 (2); 0.134911 0.48767 D 0.000167 T 0.00012 0.0000 M 0.72894 2.215 0.09310 P 0.99999999703545 D 0.76494 0.999 D 0.81914 0.995 T 0.46555 -0.9183 9 0.56958 D 0.05 . 2.7537 0.05288 0.5315:0.0:0.2255:0.243 rs16868972;rs52832176;rs56859195;rs16868972 2004 Q8WXG9 GPR98_HUMAN F 2004 ENSP00000384582:L2004F ENSP00000296619:L2004F L + 3 2 GPR98 90015506 0.993000 0.37304 1.000000 0.80357 0.976000 0.68499 1.037000 0.30241 1.243000 0.43853 0.591000 0.81541 TTG NOVEL GPR98-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000369993.2 0 6.621497 KEEP 0 0 0 22 768 GG 0.999879 0.999879 0 + 16 60 570 0 0 36.649579 323 60 12253 411 ENST00000405460.2 0.047198 1 GPR98 84059 __UNKNOWN__ __UNKNOWN__ 5 90016871 90016871 __UNKNOWN__ Missense_Mutation SNP G G A rs16869032 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:90016871G>A ENST00000405460.2 + 45 9839 c.9743G>A c.(9742-9744)gGc>gAc p.G3248D NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 3248 NA G -> D (in dbSNP:rs16869032). {ECO:0000269|PubMed:14740321}. detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601) cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142) calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930) NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) ACAGCCTTTGGCATGAGTATG 0.333 NA G||| 1111 0.221845 0.174 0.1484 5008 , , NA 16429 0.4286 NA 0.1402 False NA ,,, NA NA NA 2504 0.2096 NA NA NA NA 0 G ASP/GLY 584,3204 40,504,1350 137 133 134 9743 5.8 1 5 dbSNP_123 134 1081,7169 52,977,3096 yes missense GPR98 NM_032119.3 94 92,1481,4446 AA,AG,GG 13.103,15.4171,13.8312 probably-damaging 3248/6307 90016871 1665,10373 1894 4125 6019 SO:0001583 missense AB014586 CCDS47246.1 5q13 2014-08-08 2006-05-26 2006-05-26 ENSG00000164199 ENSG00000164199 84059 -, GPCR / Class B : Orphans 17416 protein-coding gene gene with protein product 602851 monogenic, audiogenic seizure susceptibility 1 homolog (mouse) USH2C, MASS1 NA 10976914, 14740321 Standard NM_032119 NM_032119 NA Approved DKFZp761P0710, KIAA0686, FEB4, VLGR1b uc003kju.3 Q8WXG9 OTTHUMG00000162668 ENST00000405460.2:c.9743G>A chr5.hg19:g.90016871G>A ENSP00000384582:p.Gly3248Asp NA O75171|Q8TF58|Q9H0X5|Q9UL61 hg19 CCDS47246.1 0.02 10.551285 TTGxCAT COVERED 460|460 0.21062271062271062|0.21062271062271062 85|85 0.17276422764227642|0.17276422764227642 56|56 0.15469613259668508|0.15469613259668508 213|213 0.3723776223776224|0.3723776223776224 106|106 0.13984168865435356|0.13984168865435356 G|G 28.3|28.3 4.912449|4.912449 0.92178|0.92178 0.154171|0.154171 0.13103|0.13103 ENSG00000164199|ENSG00000164199 ENST00000509621|ENST00000405460;ENST00000296619 .|T .|0.30448 .|1.53 5.85|5.85 5.85|5.85 0.93711|0.93711 .|. .|0.045594 .|0.85682 .|D .|0.000000 T|T 0.00012|0.00012 0.0000|0.0000 M|M 0.70595|0.70595 2.14|2.14 0.09310|0.09310 P|P 1.0|1.0 .|D;D .|0.63880 .|0.958;0.993 .|P;P .|0.58721 .|0.468;0.844 T|T 0.08513|0.08513 -1.0718|-1.0718 4|9 .|0.72032 .|D .|0.01 .|. 20.1576|20.1576 0.98120|0.98120 0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0 rs16869032;rs52816542;rs16869032|rs16869032;rs52816542;rs16869032 .|3248;3248 .|E7ETI5;Q8WXG9 .|.;GPR98_HUMAN T|D 814|3248 .|ENSP00000384582:G3248D .|ENSP00000296619:G3248D A|G +|+ 1|2 0|0 GPR98|GPR98 90052627|90052627 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.998000|0.998000 0.95712|0.95712 7.126000|7.126000 0.77201|0.77201 2.773000|2.773000 0.95371|0.95371 0.650000|0.650000 0.86243|0.86243 GCA|GGC NOVEL GPR98-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000369993.2 0 7.524485 KEEP 0 0 0 25 895 GG 0.999931 0.999931 0 + 13 60 472 0 0 30.974384 248 60 9154 337 ENST00000405460.2 0.049808 1 GPR98 84059 __UNKNOWN__ __UNKNOWN__ 5 90151589 90151589 __UNKNOWN__ Missense_Mutation SNP G G A rs2247870 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:90151589G>A ENST00000405460.2 + 82 17722 c.17626G>A c.(17626-17628)Gtt>Att p.V5876I GPR98_ENST00000425867.2_Missense_Mutation_p.V1537I NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 5876 GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}. NA V -> I (in Ref. 1; AAD55586, 2; AAL30811 and 6; BAA31661). {ECO:0000305}. detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601) cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142) calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930) p.V5876I(1) NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TTGCAAAGTGGTTGAGGAAAC 0.413 NA G||| 2299 0.459065 0.1309 0.6931 5008 , , NA 20690 0.5665 NA 0.5606 False NA ,,, NA NA NA 2504 0.5215 NA NA NA NA 1 Substitution - Missense(1) stomach(1) G ILE/VAL 759,3129 70,619,1255 297 274 281 17626 4.6 1 5 dbSNP_100 281 4531,3749 1235,2061,844 yes missense GPR98 NM_032119.3 29 1305,2680,2099 AA,AG,GG 45.2778,19.5216,43.4747 benign 5876/6307 90151589 5290,6878 1944 4140 6084 SO:0001583 missense AB014586 CCDS47246.1 5q13 2014-08-08 2006-05-26 2006-05-26 ENSG00000164199 ENSG00000164199 84059 -, GPCR / Class B : Orphans 17416 protein-coding gene gene with protein product 602851 monogenic, audiogenic seizure susceptibility 1 homolog (mouse) USH2C, MASS1 NA 10976914, 14740321 Standard NM_032119 NM_032119 NA Approved DKFZp761P0710, KIAA0686, FEB4, VLGR1b uc003kju.3 Q8WXG9 OTTHUMG00000162668 ENST00000405460.2:c.17626G>A chr5.hg19:g.90151589G>A ENSP00000384582:p.Val5876Ile NA O75171|Q8TF58|Q9H0X5|Q9UL61 hg19 CCDS47246.1 0.02 13.085086 GTGxTTG COVERED 1082 0.49542124542124544 72 0.14634146341463414 244 0.6740331491712708 334 0.583916083916084 432 0.5699208443271768 G 12.62 1.991585 0.35131 0.195216 0.547222 ENSG00000164199 ENST00000405460;ENST00000296619;ENST00000425867 T;T 0.70164 -0.46;-0.46 5.5 4.64 0.57946 GPS domain (3); 0.111041 0.64402 D 0.000012 T 0.00012 0.0000 L 0.41710 1.295 0.20403 P 0.9999025175 B;P;B 0.36974 0.012;0.576;0.01 B;B;B 0.34242 0.016;0.178;0.009 T 0.46857 -0.9161 8 . . . . 11.3472 0.49567 0.1921:0.0:0.8079:0.0 rs2247870;rs56587026;rs60466685;rs2247870 1537;5876;1537 E7EML1;Q8WXG9;Q8WXG9-2 .;GPR98_HUMAN;. I 5876;5876;1537 ENSP00000384582:V5876I;ENSP00000392618:V1537I . V + 1 0 GPR98 90187345 1.000000 0.71417 1.000000 0.80357 0.956000 0.61745 2.899000 0.48679 1.465000 0.48006 -0.216000 0.12614 GTT NOVEL GPR98-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000369993.2 1 15.048394 KEEP 0 0 0 50 1787 GG 1 1 0 + 14 60 503 0 0 31.945395 310 60 11536 460 ENST00000405460.2 0.04321 1 KIAA0825 285600 __UNKNOWN__ __UNKNOWN__ 5 93753017 93753017 __UNKNOWN__ Missense_Mutation SNP C C T rs29910 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:93753017C>T ENST00000513200.3 - 14 2623 c.2551G>A c.(2551-2553)Gcc>Acc p.A851T KIAA0825_ENST00000427991.2_Missense_Mutation_p.A851T|KIAA0825_ENST00000312498.7_Missense_Mutation_p.A856T NM_001145678.1 NP_001139150.1 Q8IV33 K0825_HUMAN KIAA0825 851 NA p.A851T(1)|p.A856T(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1) 13 TTAAAGATGGCTTCCATCAAG 0.353 NA C||| 921 0.183906 0.1293 0.1715 5008 , , NA 18183 0.0784 NA 0.2863 False NA ,,, NA NA NA 2504 0.2699 NA NA NA NA 2 Substitution - Missense(2) kidney(2) C THR/ALA 205,1179 23,159,510 207 172 183 2551 3.6 1 5 dbSNP_76 183 940,2242 144,652,795 yes missense KIAA0825 NM_001145678.1 58 167,811,1305 TT,TC,CC 29.5412,14.8121,25.0767 benign 851/1276 93753017 1145,3421 692 1591 2283 SO:0001583 missense BX648338 CCDS4070.1 5q15 2011-02-23 2011-02-23 2011-02-23 ENSG00000185261 ENSG00000185261 285600 28532 protein-coding gene gene with protein product chromosome 5 open reading frame 36 C5orf36 NA 12477932 Standard NM_173665 NM_173665 NA Approved DKFZp686F0372, MGC34713 uc011cuk.2 Q8IV33 OTTHUMG00000131331 ENST00000513200.3:c.2551G>A chr5.hg19:g.93753017C>T ENSP00000424618:p.Ala851Thr NA O94914|Q6ZNN2 hg19 0.02 6.812035 TGGxTTC COVERED 386 0.17673992673992675 50 0.1016260162601626 72 0.19889502762430938 37 0.06468531468531469 227 0.2994722955145119 C 12.22 1.873335 0.33069 0.148121 0.295412 ENSG00000185261 ENST00000513200;ENST00000427991;ENST00000312498 T;T;T 0.49432 0.79;0.79;0.78 5.39 3.57 0.40892 . 0.000000 0.64402 D 0.000010 T 0.00012 0.0000 L 0.34521 1.04 0.35559 P 0.19545800000000002 B 0.29988 0.264 B 0.31290 0.127 T 0.22730 -1.0208 9 0.06494 T 0.89 . 8.2205 0.31539 0.1549:0.7637:0.0:0.0814 rs29910;rs17378492;rs56725943;rs29910 851 Q8IV33 K0825_HUMAN T 851;851;856 ENSP00000424618:A851T;ENSP00000400288:A851T;ENSP00000312205:A856T ENSP00000312205:A856T A - 1 0 KIAA0825 93778773 0.994000 0.37717 0.989000 0.46669 0.868000 0.49771 0.084000 0.14891 0.608000 0.30000 0.557000 0.71058 GCC NOVEL KIAA0825-001 KNOWN not_organism_supported|basic protein_coding NA protein_coding OTTHUMT00000254102.5 1 6.320077 KEEP 0 0 0 21 739 CC 0.999869 0.999869 0 - 8 60 294 0 0 19.563468 146 60 5588 214 ENST00000513200.3 0.051948 1 MCTP1 79772 __UNKNOWN__ __UNKNOWN__ 5 94230358 94230358 __UNKNOWN__ Missense_Mutation SNP C C T rs9885412 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:94230358C>T ENST00000515393.1 - 11 1834 c.1835G>A c.(1834-1836)aGa>aAa p.R612K MCTP1_ENST00000505078.1_Missense_Mutation_p.R128K|MCTP1_ENST00000312216.8_Missense_Mutation_p.R391K|MCTP1_ENST00000505208.1_Missense_Mutation_p.R391K|MCTP1_ENST00000429576.2_Missense_Mutation_p.R345K NM_024717.4 NP_078993.4 Q6DN14 MCTP1_HUMAN multiple C2 domains, transmembrane 1 612 NA R -> K (in dbSNP:rs9885412). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}. calcium-mediated signaling (GO:0019722) integral component of membrane (GO:0016021) calcium ion binding (GO:0005509) breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1) 41 all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207) all cancers(79;9.1e-17) ACGTACATATCTCTTTAATAT 0.473 NA C||| 495 0.0988419 0.1029 0.0807 5008 , , NA 20252 0.0704 NA 0.1103 False NA ,,, NA NA NA 2504 0.1237 NA NA NA NA 0 C LYS/ARG,LYS/ARG 463,3943 219.7+/-237.4 33,397,1773 132 109 117 1172,1835 5.4 1 5 dbSNP_119 117 971,7629 210.4+/-251.3 49,873,3378 yes missense,missense MCTP1 NM_001002796.2,NM_024717.4 26,26 82,1270,5151 TT,TC,CC 11.2907,10.5084,11.0257 benign,benign 391/779,612/1000 94230358 1434,11572 2203 4300 6503 SO:0001583 missense CCDS34203.1, CCDS47247.1, CCDS75275.1 5q15 2008-02-05 ENSG00000175471 ENSG00000175471 79772 26183 protein-coding gene gene with protein product NA 15528213 Standard NM_024717 XM_005272082 NA Approved FLJ22344 uc003kkx.2 Q6DN14 OTTHUMG00000162742 ENST00000515393.1:c.1835G>A chr5.hg19:g.94230358C>T ENSP00000424126:p.Arg612Lys NA Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8 hg19 CCDS34203.1 0.02 1.722031 TATxTCT COVERED 199 0.09111721611721611 50 0.1016260162601626 35 0.09668508287292818 32 0.055944055944055944 82 0.10817941952506596 C 17.32 3.360489 0.61403 0.105084 0.112907 ENSG00000175471 ENST00000515393;ENST00000429576;ENST00000505078;ENST00000312216;ENST00000508509;ENST00000512425;ENST00000505208;ENST00000506568 T;T;T;T;T;T;T;T 0.77358 -1.09;-0.79;-0.04;-0.98;-0.79;-0.92;-1.08;-0.71 5.38 5.38 0.77491 . 0.000000 0.85682 D 0.000000 T 0.10723 0.0262 L 0.55017 1.72 0.09310 P 0.999999999075779 D;D;P 0.67145 0.994;0.996;0.923 D;D;P 0.77557 0.977;0.99;0.599 T 0.61749 -0.6999 9 0.07482 T 0.82 -14.4605 19.4941 0.95064 0.0:1.0:0.0:0.0 rs9885412;rs17852723;rs52810316;rs9885412 612;345;391 Q6DN14;Q6DN14-3;Q6DN14-2 MCTP1_HUMAN;.;. K 612;345;128;391;332;273;391;213 ENSP00000424126:R612K;ENSP00000391639:R345K;ENSP00000426417:R128K;ENSP00000308957:R391K;ENSP00000423410:R332K;ENSP00000431075:R273K;ENSP00000426438:R391K;ENSP00000426294:R213K ENSP00000308957:R391K R - 2 0 MCTP1 94256114 1.000000 0.71417 1.000000 0.80357 0.408000 0.30992 7.238000 0.78173 2.682000 0.91365 0.591000 0.81541 AGA NOVEL MCTP1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000370280.3 1 3.912551 KEEP 0 0 0 13 454 CC 0.994391 0.993094 0 - 4 60 142 0 0 9.30598 72 60 2687 99 ENST00000515393.1 0.052632 0.998696 RHOBTB3 22836 __UNKNOWN__ __UNKNOWN__ 5 95084131 95084131 __UNKNOWN__ Silent SNP G G A rs34896 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:95084131G>A ENST00000379982.3 + 4 1018 c.510G>A c.(508-510)gcG>gcA p.A170A NM_014899.3 NP_055714.3 O94955 RHBT3_HUMAN Rho-related BTB domain containing 3 170 Rho-like. NA ATP catabolic process (GO:0006200)|retrograde transport, endosome to Golgi (GO:0042147)|small GTPase mediated signal transduction (GO:0007264) Golgi apparatus (GO:0005794) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|GTP binding (GO:0005525)|Rab GTPase binding (GO:0017137) breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1) 16 all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198) all cancers(79;8.79e-16) AACTAGGAGCGACCTATCTTG 0.418 NA G||| 2269 0.453075 0.2784 0.3343 5008 , , NA 15976 0.6905 NA 0.4294 False NA ,,, NA NA NA 2504 0.5532 NA NA NA NA 0 G 1347,3059 448.1+/-348.6 202,943,1058 116 109 111 510 -12.1 0.4 5 dbSNP_76 111 3574,5026 518.5+/-379.3 731,2112,1457 no coding-synonymous RHOBTB3 NM_014899.3 933,3055,2515 AA,AG,GG 41.5581,30.5719,37.8364 170/612 95084131 4921,8085 2203 4300 6503 SO:0001819 synonymous_variant AB020685 CCDS4077.1 5q15 2014-05-09 ENSG00000164292 ENSG00000164292 22836 BTB/POZ domain containing 18757 protein-coding gene gene with protein product 607353 NA 11222756, 17035353 Standard NM_014899 NM_014899 NA Approved KIAA0878 uc003klm.3 O94955 OTTHUMG00000121171 ENST00000379982.3:c.510G>A chr5.hg19:g.95084131G>A NA A0PJA4|A8K1W9|Q8IW06 hg19 CCDS4077.1 0.02 13.138191 AGCxACC COVERED NOVEL RHOBTB3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000241658.1 0 28.591316 KEEP 0 0 0 95 3249 GG 1 1 0 + 16 60 587 0 0 38.801406 302 60 10816 534 ENST00000379982.3 0.050314 1 RHOBTB3 22836 __UNKNOWN__ __UNKNOWN__ 5 95091194 95091194 __UNKNOWN__ Silent SNP C C T rs34898 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:95091194C>T ENST00000379982.3 + 6 1285 c.777C>T c.(775-777)taC>taT p.Y259Y GLRX_ENST00000508780.1_Intron NM_014899.3 NP_055714.3 O94955 RHBT3_HUMAN Rho-related BTB domain containing 3 259 BTB 1. {ECO:0000255|PROSITE- ProRule:PRU00037}. NA ATP catabolic process (GO:0006200)|retrograde transport, endosome to Golgi (GO:0042147)|small GTPase mediated signal transduction (GO:0007264) Golgi apparatus (GO:0005794) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|GTP binding (GO:0005525)|Rab GTPase binding (GO:0017137) breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1) 16 all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198) all cancers(79;8.79e-16) TGGTATTTTACAACCCCAATT 0.418 NA C||| 2272 0.453674 0.2806 0.3329 5008 , , NA 16305 0.6895 NA 0.4324 False NA ,,, NA NA NA 2504 0.5521 NA NA NA NA 0 C 1359,3047 451.2+/-349.6 206,947,1050 173 167 169 777 4 0.9 5 dbSNP_76 169 3572,5028 518.5+/-379.3 729,2114,1457 no coding-synonymous RHOBTB3 NM_014899.3 935,3061,2507 TT,TC,CC 41.5349,30.8443,37.9133 259/612 95091194 4931,8075 2203 4300 6503 SO:0001819 synonymous_variant AB020685 CCDS4077.1 5q15 2014-05-09 ENSG00000164292 ENSG00000164292 22836 BTB/POZ domain containing 18757 protein-coding gene gene with protein product 607353 NA 11222756, 17035353 Standard NM_014899 NM_014899 NA Approved KIAA0878 uc003klm.3 O94955 OTTHUMG00000121171 ENST00000379982.3:c.777C>T chr5.hg19:g.95091194C>T NA A0PJA4|A8K1W9|Q8IW06 hg19 CCDS4077.1 0.02 17.532387 TTAxAAC COVERED NOVEL RHOBTB3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000241658.1 3 42.43839 KEEP 0 0 0 141 5035 CC 1 1 0 + 18 60 659 0 0 42.501892 388 60 14654 671 ENST00000379982.3 0.044335 1 RHOBTB3 22836 __UNKNOWN__ __UNKNOWN__ 5 95091201 95091201 __UNKNOWN__ Missense_Mutation SNP A A G rs34899 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:95091201A>G ENST00000379982.3 + 6 1292 c.784A>G c.(784-786)Aat>Gat p.N262D GLRX_ENST00000508780.1_Intron NM_014899.3 NP_055714.3 O94955 RHBT3_HUMAN Rho-related BTB domain containing 3 262 BTB 1. {ECO:0000255|PROSITE- ProRule:PRU00037}. NA N -> D (in dbSNP:rs34899). {ECO:0000269|PubMed:10048485, ECO:0000269|PubMed:12426103}. ATP catabolic process (GO:0006200)|retrograde transport, endosome to Golgi (GO:0042147)|small GTPase mediated signal transduction (GO:0007264) Golgi apparatus (GO:0005794) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|GTP binding (GO:0005525)|Rab GTPase binding (GO:0017137) breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1) 16 all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198) all cancers(79;8.79e-16) TTACAACCCCAATTTAAAGAA 0.423 NA G||| 2379 0.47504 0.357 0.3415 5008 , , NA 16213 0.6895 NA 0.4324 False NA ,,, NA NA NA 2504 0.5521 NA NA NA NA 0 G ASP/ASN 1711,2695 651.9+/-399.3 318,1075,810 170 163 165 784 5.2 0 5 dbSNP_76 165 3579,5021 628.2+/-398.1 732,2115,1453 yes missense RHOBTB3 NM_014899.3 23 1050,3190,2263 GG,GA,AA 41.6163,38.8334,40.6735 benign 262/612 95091201 5290,7716 2203 4300 6503 SO:0001583 missense AB020685 CCDS4077.1 5q15 2014-05-09 ENSG00000164292 ENSG00000164292 22836 BTB/POZ domain containing 18757 protein-coding gene gene with protein product 607353 NA 11222756, 17035353 Standard NM_014899 NM_014899 NA Approved KIAA0878 uc003klm.3 O94955 OTTHUMG00000121171 ENST00000379982.3:c.784A>G chr5.hg19:g.95091201A>G ENSP00000369318:p.Asn262Asp NA A0PJA4|A8K1W9|Q8IW06 hg19 CCDS4077.1 0.02 15.465344 CCCxATT COVERED 1046 0.47893772893772896 176 0.35772357723577236 136 0.3756906077348066 414 0.7237762237762237 320 0.42216358839050133 G 0.007 -1.962568 0.00461 0.388334 0.416163 ENSG00000164292 ENST00000379982 T 0.69175 -0.38 6.08 5.21 0.72293 BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (1); 0.356359 0.35646 N 0.003075 T 0.00012 0.0000 N 0.01874 -0.695 0.44018 P 0.003263000000000016 B 0.02656 0.0 B 0.01281 0.0 T 0.45920 -0.9228 9 0.02654 T 1 -9.0521 12.9585 0.58444 0.1877:0.0:0.8123:0.0 rs34899;rs1221525;rs3201267;rs17857251;rs52811008;rs57550478;rs34899 262 O94955 RHBT3_HUMAN D 262 ENSP00000369318:N262D ENSP00000369318:N262D N + 1 0 RHOBTB3 95116957 1.000000 0.71417 0.013000 0.15412 0.000000 0.00434 2.538000 0.45710 0.484000 0.27630 -2.314000 0.00255 AAT NOVEL RHOBTB3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000241658.1 3 45.133374 KEEP 0 0 0 150 4696 AA 1 1 0 + 18 60 608 0 0 37.033716 408 60 15150 709 ENST00000379982.3 0.042254 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 5 95169763 95169763 __UNKNOWN__ IGR SNP T T A rs3797206 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:95169763T>A NA NA GLRX (11054 upstream) : AC008592.4 (1883 downstream) NA NA NA TCTGATTTTTTAAAATCTCAG 0.338 NA A||| 3117 0.622404 0.7277 0.536 5008 , , NA 18440 0.7857 NA 0.4145 False NA ,,, NA NA NA 2504 0.5869 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr5.hg19:g.95169763T>A NA hg19 0.02 2.118819 TTTxAAA COVERED NOVEL 0 2 14.442349 KEEP 0 0 0 48 1488 TT 1 0.999956 0 9 60 328 0 0 24.003091 90 60 3257 187 0.090909 0.999956 ELL2 22936 __UNKNOWN__ __UNKNOWN__ 5 95221337 95221337 __UNKNOWN__ 3'UTR SNP C C T rs1043381 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:95221337C>T ENST00000237853.4 - 0 5510 NM_012081.5 NP_036213.2 O00472 ELL2_HUMAN elongation factor, RNA polymerase II, 2 NA NA regulation of transcription, DNA-templated (GO:0006355)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|transcription elongation from RNA polymerase II promoter (GO:0006368) centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2) 24 all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198) all cancers(79;2.16e-15) TGATGGACCACTTTTGTCTAA 0.373 NA T||| 2076 0.414537 0.5635 0.33 5008 , , NA 18460 0.3829 NA 0.2843 False NA ,,, NA NA NA 2504 0.4397 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U88629 CCDS4080.1 5q15 2010-11-29 ENSG00000118985 ENSG00000118985 22936 17064 protein-coding gene gene with protein product 601874 NA 9108030 Standard NM_012081 NM_012081 NA Approved uc003klr.4 O00472 OTTHUMG00000122085 ENST00000237853.4:c.*3238G>A chr5.hg19:g.95221337C>T NA B4DNK7 hg19 CCDS4080.1 0.02 11.466435 CCAxTTT COVERED NOVEL ELL2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000242846.1 1 13.06957 KEEP 0 1 30 54 1892 CC 1 1 0 - 10 60 376 0 0 23.987413 249 60 9420 378 ENST00000237853.4 0.03861 1 ELL2 22936 __UNKNOWN__ __UNKNOWN__ 5 95222277 95222277 __UNKNOWN__ 3'UTR SNP C C T rs11135441 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:95222277C>T ENST00000237853.4 - 0 4570 NM_012081.5 NP_036213.2 O00472 ELL2_HUMAN elongation factor, RNA polymerase II, 2 NA NA regulation of transcription, DNA-templated (GO:0006355)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|transcription elongation from RNA polymerase II promoter (GO:0006368) centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2) 24 all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198) all cancers(79;2.16e-15) GGTTCTGAAACAAGAGTTGGC 0.428 NA T||| 3028 0.604633 0.7595 0.4438 5008 , , NA 19717 0.7937 NA 0.333 False NA ,,, NA NA NA 2504 0.5941 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U88629 CCDS4080.1 5q15 2010-11-29 ENSG00000118985 ENSG00000118985 22936 17064 protein-coding gene gene with protein product 601874 NA 9108030 Standard NM_012081 NM_012081 NA Approved uc003klr.4 O00472 OTTHUMG00000122085 ENST00000237853.4:c.*2298G>A chr5.hg19:g.95222277C>T NA B4DNK7 hg19 CCDS4080.1 0.02 6.827471 AAAxAAG COVERED NOVEL ELL2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000242846.1 3 15.048823 KEEP 0 0 0 50 1783 CC 1 1 0 - 10 60 365 0 0 24.631566 165 60 6247 266 ENST00000237853.4 0.057143 1 ELL2 22936 __UNKNOWN__ __UNKNOWN__ 5 95222511 95222511 __UNKNOWN__ 3'UTR SNP T T C rs11135442 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:95222511T>C ENST00000237853.4 - 0 4336 NM_012081.5 NP_036213.2 O00472 ELL2_HUMAN elongation factor, RNA polymerase II, 2 NA NA regulation of transcription, DNA-templated (GO:0006355)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|transcription elongation from RNA polymerase II promoter (GO:0006368) centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2) 24 all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198) all cancers(79;2.16e-15) atgcagatacttgggccctat 0.408 NA T||| 1840 0.367412 0.5144 0.2507 5008 , , NA 19263 0.3522 NA 0.2793 False NA ,,, NA NA NA 2504 0.3579 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U88629 CCDS4080.1 5q15 2010-11-29 ENSG00000118985 ENSG00000118985 22936 17064 protein-coding gene gene with protein product 601874 NA 9108030 Standard NM_012081 NM_012081 NA Approved uc003klr.4 O00472 OTTHUMG00000122085 ENST00000237853.4:c.*2064A>G chr5.hg19:g.95222511T>C NA B4DNK7 hg19 CCDS4080.1 0.02 6.631974 TACxTGG COVERED NOVEL ELL2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000242846.1 0 14.745105 KEEP 0 0 0 49 1595 TT 1 1 0 - 7 60 265 0 0 16.892345 179 60 6453 284 ENST00000237853.4 0.037634 1 ELL2 22936 __UNKNOWN__ __UNKNOWN__ 5 95226655 95226655 __UNKNOWN__ Intron SNP A A G rs6556893 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:95226655A>G ENST00000237853.4 - 10 2111 ELL2_ENST00000431061.2_Intron NM_012081.5 NP_036213.2 O00472 ELL2_HUMAN elongation factor, RNA polymerase II, 2 NA NA regulation of transcription, DNA-templated (GO:0006355)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|transcription elongation from RNA polymerase II promoter (GO:0006368) centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2) 24 all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198) all cancers(79;2.16e-15) TTCAAGAACTATTTCAAATAT 0.378 NA A||| 1835 0.366414 0.5106 0.2507 5008 , , NA 19313 0.3522 NA 0.2793 False NA ,,, NA NA NA 2504 0.3579 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U88629 CCDS4080.1 5q15 2010-11-29 ENSG00000118985 ENSG00000118985 22936 17064 protein-coding gene gene with protein product 601874 NA 9108030 Standard NM_012081 NM_012081 NA Approved uc003klr.4 O00472 OTTHUMG00000122085 ENST00000237853.4:c.1761+151T>C chr5.hg19:g.95226655A>G NA B4DNK7 hg19 CCDS4080.1 0.02 4.25949 ACTxTTT COVERED NOVEL ELL2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000242846.1 0 3.945519 KEEP 0 1 37 26 784 AA 0.999988 0.999988 0 - 8 60 306 0 0 20.856757 142 60 5004 198 ENST00000237853.4 0.053333 1 PCSK1 5122 __UNKNOWN__ __UNKNOWN__ 5 95730461 95730461 __UNKNOWN__ Intron SNP C C T rs11741888 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:95730461C>T ENST00000311106.3 - 13 2122 PCSK1_ENST00000513085.1_Intron|PCSK1_ENST00000508626.1_Intron|CTD-2337A12.1_ENST00000502645.2_RNA NM_000439.4|NM_001177876.1 NP_000430.3|NP_001171347.1 P29120 NEC1_HUMAN proprotein convertase subtilisin/kexin type 1 NA NA cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796) extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774) serine-type endopeptidase activity (GO:0004252) NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 36 all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;3.44e-16) "Insulin(DB00071)|Insulin Regular(DB00030) TTATCCTCCCCATCCATGTTT 0.368 NA C||| 829 0.165535 0.0318 0.183 5008 , , NA 20224 0.1885 NA 0.2783 False NA ,,, NA NA NA 2504 0.1943 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS4081.1, CCDS54881.1 5q15-q21 2008-07-18 ENSG00000175426 ENSG00000175426 5122 8743 protein-coding gene gene with protein product prohormone convertase 3, prohormone convertase 1, neuroendocrine convertase 1, proprotein convertase 1 162150 NEC1 NA 1765368 Standard NM_000439 NM_000439 NA Approved PC1, PC3, SPC3 uc003kls.2 P29120 OTTHUMG00000122089 ENST00000311106.3:c.1884+106G>A chr5.hg19:g.95730461C>T NA B7Z8T7|E9PHA1|P78478|Q92532 hg19 CCDS4081.1 0.02 4.566333 CCCxATC COVERED NOVEL PCSK1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000242851.1 0 3.611406 KEEP 0 0 0 12 397 CC 0.993634 0.99363 0 - 5 60 193 0 0 12.755643 110 60 3984 130 ENST00000311106.3 0.043478 0.999997 PCSK1 5122 __UNKNOWN__ __UNKNOWN__ 5 95733112 95733112 __UNKNOWN__ Silent SNP A A G rs6233 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:95733112A>G ENST00000311106.3 - 12 1887 c.1650T>C c.(1648-1650)aaT>aaC p.N550N PCSK1_ENST00000513085.1_5'UTR|PCSK1_ENST00000508626.1_Silent_p.N503N|CTD-2337A12.1_ENST00000502645.2_RNA NM_000439.4|NM_001177876.1 NP_000430.3|NP_001171347.1 P29120 NEC1_HUMAN proprotein convertase subtilisin/kexin type 1 550 NA cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796) extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774) serine-type endopeptidase activity (GO:0004252) NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 36 all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;3.44e-16) "Insulin(DB00071)|Insulin Regular(DB00030) TGAAGTCCCAATTCTTAAAGC 0.398 NA A||| 1717 0.342851 0.4092 0.4078 5008 , , NA 18310 0.2401 NA 0.3678 False NA ,,, NA NA NA 2504 0.2873 NA NA NA NA 0 A ,, 1822,2584 533.9+/-373.8 356,1110,737 118 103 108 1650,1509,720 -6.4 0.9 5 dbSNP_52 108 3230,5370 485.6+/-371.7 590,2050,1660 no coding-synonymous,coding-synonymous,coding-synonymous PCSK1 NM_000439.4,NM_001177875.1,NM_001177876.1 ,, 946,3160,2397 GG,GA,AA 37.5581,41.3527,38.8436 ,, 550/754,503/707,240/444 95733112 5052,7954 2203 4300 6503 SO:0001819 synonymous_variant CCDS4081.1, CCDS54881.1 5q15-q21 2008-07-18 ENSG00000175426 ENSG00000175426 5122 8743 protein-coding gene gene with protein product prohormone convertase 3, prohormone convertase 1, neuroendocrine convertase 1, proprotein convertase 1 162150 NEC1 NA 1765368 Standard NM_000439 NM_000439 NA Approved PC1, PC3, SPC3 uc003kls.2 P29120 OTTHUMG00000122089 ENST00000311106.3:c.1650T>C chr5.hg19:g.95733112A>G NA B7Z8T7|E9PHA1|P78478|Q92532 hg19 CCDS4081.1 0.02 13.252429 CCAxTTC COVERED NOVEL PCSK1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000242851.1 0 14.142408 KEEP 0 0 0 47 1487 AA 1 1 0 - 18 60 682 0 0 46.240684 321 60 11840 474 ENST00000311106.3 0.053097 1 PCSK1 5122 __UNKNOWN__ __UNKNOWN__ 5 95767920 95767920 __UNKNOWN__ Intron SNP T T C rs3792747 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:95767920T>C ENST00000311106.3 - 1 418 CTD-2337A12.1_ENST00000502645.2_RNA NM_000439.4|NM_001177876.1 NP_000430.3|NP_001171347.1 P29120 NEC1_HUMAN proprotein convertase subtilisin/kexin type 1 NA NA cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796) extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774) serine-type endopeptidase activity (GO:0004252) NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 36 all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;3.44e-16) "Insulin(DB00071)|Insulin Regular(DB00030) CGGAGCTCCCTAGAGAGTCGC 0.587 NA T||| 737 0.147165 0.0197 0.2118 5008 , , NA 16892 0.1518 NA 0.2416 False NA ,,, NA NA NA 2504 0.1718 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS4081.1, CCDS54881.1 5q15-q21 2008-07-18 ENSG00000175426 ENSG00000175426 5122 8743 protein-coding gene gene with protein product prohormone convertase 3, prohormone convertase 1, neuroendocrine convertase 1, proprotein convertase 1 162150 NEC1 NA 1765368 Standard NM_000439 NM_000439 NA Approved PC1, PC3, SPC3 uc003kls.2 P29120 OTTHUMG00000122089 ENST00000311106.3:c.180+646A>G chr5.hg19:g.95767920T>C NA B7Z8T7|E9PHA1|P78478|Q92532 hg19 CCDS4081.1 0.02 7.251762 CCCxAGA COVERED NOVEL PCSK1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000242851.1 1 7.821986 KEEP 0 0 0 26 791 TT 0.999957 0.999957 0 - 6 60 231 0 0 14.333453 189 60 6590 250 ENST00000311106.3 0.030769 1 CAST 831 __UNKNOWN__ __UNKNOWN__ 5 96093222 96093222 __UNKNOWN__ Intron SNP G G A rs27654 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:96093222G>A ENST00000508579.1 + 9 946 CAST_ENST00000511049.1_Intron|CAST_ENST00000338252.3_Intron|CAST_ENST00000309190.5_Intron|CAST_ENST00000510756.1_Intron|CAST_ENST00000341926.3_Intron|CAST_ENST00000515663.1_Intron|CAST_ENST00000348386.3_Intron|CAST_ENST00000504465.1_Intron|CAST_ENST00000508830.1_Intron|CAST_ENST00000359176.4_Intron|CAST_ENST00000509903.1_Intron|CAST_ENST00000395813.1_Intron|CAST_ENST00000508608.1_Intron|CAST_ENST00000511782.1_Intron|CAST_ENST00000325674.7_Intron|CAST_ENST00000395812.2_Intron P20810 ICAL_HUMAN calpastatin NA NA negative regulation of endopeptidase activity (GO:0010951)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675) cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020) cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)|poly(A) RNA binding (GO:0044822) breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2) 22 all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;6.85e-15) TTTTCTCTGAGGATATCTTTT 0.453 NA G||| 2036 0.40655 0.4017 0.438 5008 , , NA 18187 0.5308 NA 0.2962 False NA ,,, NA NA NA 2504 0.3763 NA NA NA NA 0 G ,, 1726,2680 517.7+/-369.5 340,1046,817 138 134 136 ,, 0.4 0 5 dbSNP_76 136 2714,5886 433.7+/-357.5 446,1822,2032 no intron,intron,intron CAST NM_001042440.2,NM_001190442.1,NM_173060.3 ,, 786,2868,2849 AA,AG,GG 31.5581,39.1739,34.1381 ,, ,, 96093222 4440,8566 2203 4300 6503 SO:0001627 intron_variant AF327443 CCDS4082.1, CCDS54882.1, CCDS54883.1, CCDS75279.1 5q15 2012-09-20 ENSG00000153113 ENSG00000153113 831 1515 protein-coding gene gene with protein product 114090 NA 8340353, 14685690, 15820218 Standard NM_173062 NM_173060 NA Approved uc003klx.3 P20810 OTTHUMG00000128413 ENST00000508579.1:c.657+24G>A chr5.hg19:g.96093222G>A NA B7Z468|G5E946|G5E9D3|O95360|Q05DE8|Q7Z4K0|Q96D08|Q9H1Z5 hg19 0.02 14.85068 TGAxGAT COVERED NOVEL CAST-037 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000370573.2 4 29.495472 KEEP 0 0 0 98 3477 GG 1 1 0 + 11 60 411 0 0 24.541863 384 60 14556 608 ENST00000508579.1 0.027848 1 LNPEP 4012 __UNKNOWN__ __UNKNOWN__ 5 96358060 96358060 __UNKNOWN__ Silent SNP G G A rs58748938 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:96358060G>A ENST00000231368.5 + 14 3125 c.2433G>A c.(2431-2433)gaG>gaA p.E811E LNPEP_ENST00000395770.3_Silent_p.E797E NM_005575.2 NP_005566.2 Q9UIQ6 LCAP_HUMAN leucyl/cystinyl aminopeptidase 811 NA antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508) cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886) aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270) breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 34 all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244) COAD - Colon adenocarcinoma(37;0.072) GGACTGATGAGGGCACTCCAT 0.413 NA G||| 333 0.0664936 0.152 0.0115 5008 , , NA 18549 0.0784 NA 0.0089 False NA ,,, NA NA NA 2504 0.0368 NA NA NA NA 0 G , 627,3779 270.1+/-269.4 57,513,1633 94 90 91 2433,2391 -0.3 1 5 dbSNP_129 91 21,8579 15.3+/-51.7 0,21,4279 no coding-synonymous,coding-synonymous LNPEP NM_005575.2,NM_175920.3 , 57,534,5912 AA,AG,GG 0.2442,14.2306,4.9823 , 811/1026,797/1012 96358060 648,12358 2203 4300 6503 SO:0001819 synonymous_variant D50810 CCDS4087.1, CCDS43346.1 5q15 2011-07-25 ENSG00000113441 ENSG00000113441 4012 3.4.11.3 6656 protein-coding gene gene with protein product cystinyl aminopeptidase, placental leucine aminopeptidase 151300 NA 8550619 Standard NM_005575 NM_175920 NA Approved CAP, PLAP, P-LAP uc003kmw.1 Q9UIQ6 OTTHUMG00000128719 ENST00000231368.5:c.2433G>A chr5.hg19:g.96358060G>A NA O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7 hg19 CCDS4087.1 0.02 9.964432 TGAxGGC COVERED NOVEL LNPEP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250624.1 4 12.338687 KEEP 0 0 0 41 1460 GG 1 1 0 + 12 60 409 0 0 25.31312 259 60 9853 380 ENST00000231368.5 0.04428 1 LNPEP 4012 __UNKNOWN__ __UNKNOWN__ 5 96368095 96368095 __UNKNOWN__ 3'UTR SNP C C A rs73141135 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:96368095C>A ENST00000231368.5 + 0 7628 NM_005575.2 NP_005566.2 Q9UIQ6 LCAP_HUMAN leucyl/cystinyl aminopeptidase NA NA antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508) cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886) aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270) breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 34 all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244) COAD - Colon adenocarcinoma(37;0.072) TAAATCTCCTCCCTTAACCTT 0.358 NA C||| 333 0.0664936 0.152 0.0115 5008 , , NA 15241 0.0784 NA 0.0089 False NA ,,, NA NA NA 2504 0.0368 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D50810 CCDS4087.1, CCDS43346.1 5q15 2011-07-25 ENSG00000113441 ENSG00000113441 4012 3.4.11.3 6656 protein-coding gene gene with protein product cystinyl aminopeptidase, placental leucine aminopeptidase 151300 NA 8550619 Standard NM_005575 NM_175920 NA Approved CAP, PLAP, P-LAP uc003kmw.1 Q9UIQ6 OTTHUMG00000128719 ENST00000231368.5:c.*3858C>A chr5.hg19:g.96368095C>A NA O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7 hg19 CCDS4087.1 0.02 8.070286 CCTxCCT COVERED NOVEL LNPEP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250624.1 2 13.543706 KEEP 0 0 0 45 1583 CC 1 1 0 + 7 60 251 0 0 14.892879 219 60 8255 353 ENST00000231368.5 0.030973 1 CTD-2215E18.1 0 __UNKNOWN__ __UNKNOWN__ 5 96427624 96427624 __UNKNOWN__ Intron SNP T T C rs316233 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:96427624T>C ENST00000509481.1 + 1 130 LIX1_ENST00000274382.4_3'UTR NA NA urinary_tract(1) 1 GACCCATTTATCCAAGTTTAG 0.313 NA C||| 1921 0.383586 0.5696 0.3055 5008 , , NA 18734 0.3482 NA 0.2525 False NA ,,, NA NA NA 2504 0.3589 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000509481.1:c.-412+2716T>C chr5.hg19:g.96427624T>C NA hg19 0.02 4.264887 TTAxCCA COVERED NOVEL CTD-2215E18.1-001 PUTATIVE basic|appris_principal|exp_conf protein_coding NA protein_coding OTTHUMT00000370857.1 2 9.027888 KEEP 0 0 0 30 971 TT 0.999997 0.999997 0 + 5 60 187 0 0 11.753089 133 60 4923 201 ENST00000509481.1 0.036232 1 CTD-2215E18.1 0 __UNKNOWN__ __UNKNOWN__ 5 96427698 96427698 __UNKNOWN__ Intron SNP C C A rs316234 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:96427698C>A ENST00000509481.1 + 1 130 LIX1_ENST00000274382.4_3'UTR NA NA urinary_tract(1) 1 TTTTGTGGAACTTAAACTATC 0.338 NA A||| 1921 0.383586 0.5696 0.3055 5008 , , NA 18484 0.3482 NA 0.2525 False NA ,,, NA NA NA 2504 0.3589 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000509481.1:c.-412+2790C>A chr5.hg19:g.96427698C>A NA hg19 0.02 7.045238 GAAxTTA COVERED NOVEL CTD-2215E18.1-001 PUTATIVE basic|appris_principal|exp_conf protein_coding NA protein_coding OTTHUMT00000370857.1 0 6.621872 KEEP 0 0 0 22 809 CC 0.999879 0.999879 0 + 7 60 268 0 0 17.416169 166 60 6242 229 ENST00000509481.1 0.040462 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 5 97981799 97981799 __UNKNOWN__ IGR SNP A A C rs40807 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:97981799A>C NA NA AC022142.1 (6864 upstream) : RGMB (122554 downstream) NA NA NA TTGGCCTGGGATATGGGTTTT 0.284 NA a||| 806 0.160942 0.2489 0.1671 5008 , , NA 17941 0.0228 NA 0.2207 False NA ,,, NA NA NA 2504 0.1186 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr5.hg19:g.97981799A>C NA hg19 0.02 19.179288 GGGxTAT COVERED NOVEL 0 3 18.958047 KEEP 0 0 0 63 2037 AA 1 1 0 13 60 499 0 0 31.038741 400 60 14745 615 0.031477 1 RGMB 285704 __UNKNOWN__ __UNKNOWN__ 5 98129080 98129080 __UNKNOWN__ Missense_Mutation SNP G G A rs199960380 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:98129080G>A ENST00000308234.7 + 5 1462 c.1060G>A c.(1060-1062)Gtg>Atg p.V354M RGMB_ENST00000513185.1_Missense_Mutation_p.V313M NM_001012761.2 NP_001012779.2 Q6NW40 RGMB_HUMAN repulsive guidance molecule family member b 313 NA axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell adhesion (GO:0007155)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165) anchored component of plasma membrane (GO:0046658)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793) identical protein binding (GO:0042802) haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1) 10 all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0587) GCAGCTGTGCGTGAACGGCTG 0.637 NA G||| 1 0.000199681 0.0008 0.0 5008 , , NA 19746 0.0 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 G MET/VAL 6,4260 0,6,2127 37 38 37 1060 1.9 0.9 5 37 1,8459 0,1,4229 yes missense RGMB NM_001012761.2 21 0,7,6356 AA,AG,GG 0.0118,0.1406,0.055 possibly-damaging 354/479 98129080 7,12719 2133 4230 6363 SO:0001583 missense AK074887 CCDS47251.1 5q21.1 2013-11-06 2013-11-06 ENSG00000174136 ENSG00000174136 285704 26896 protein-coding gene gene with protein product 612687 RGM domain family, member B NA 19324014 Standard NM_173670 NM_001012761 NA Approved FLJ90406, DRAGON uc003knc.3 Q6NW40 OTTHUMG00000162745 ENST00000308234.7:c.1060G>A chr5.hg19:g.98129080G>A ENSP00000308219:p.Val354Met NA D6R9A0|Q8NC92 hg19 CCDS47251.1 0.02 8.772493 TGCxTGA COVERED 1 4.578754578754579E-4 1 0.0020325203252032522 0 0.0 0 0.0 0 0.0 G 7.191 0.591471 0.13812 0.001406 1.18E-4 ENSG00000174136 ENST00000308234;ENST00000513185 D;D 0.85484 -1.99;-1.99 5.62 1.9 0.25705 Repulsive guidance molecule, C-terminal (1); 0.234344 0.43416 N 0.000579 T 0.77205 0.4096 L 0.39147 1.195 0.39846 D 0.973172 P 0.51147 0.942 B 0.40982 0.345 T 0.73668 -0.3910 10 0.46703 T 0.11 -4.875 10.6885 0.45856 0.128:0.0:0.7598:0.1122 . 313 Q6NW40 RGMB_HUMAN M 354;313 ENSP00000308219:V354M;ENSP00000423256:V313M ENSP00000308219:V354M V + 1 0 RGMB 98156980 0.987000 0.35691 0.912000 0.35992 0.203000 0.24098 1.569000 0.36428 0.063000 0.16370 -1.956000 0.00482 GTG NOVEL RGMB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000370306.1 1 17.711067 KEEP 0 0 0 59 2021 GG 1 1 0 + 7 60 269 0 0 16.543524 230 60 8364 344 ENST00000308234.7 0.029536 1 PAM 5066 __UNKNOWN__ __UNKNOWN__ 5 102345546 102345546 __UNKNOWN__ Silent SNP A A C rs2230457 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:102345546A>C ENST00000304400.7 + 20 2493 c.2307A>C c.(2305-2307)atA>atC p.I769I PAM_ENST00000348126.2_Silent_p.I662I|PAM_ENST00000455264.2_Silent_p.I769I|PAM_ENST00000379787.4_Silent_p.I149I|PAM_ENST00000274392.9_Silent_p.I672I|PAM_ENST00000346918.2_Silent_p.I769I|PAM_ENST00000438793.3_Silent_p.I769I P19021 AMD_HUMAN peptidylglycine alpha-amidating monooxygenase 769 Peptidyl-alpha-hydroxyglycine alpha- amidating lyase. {ECO:0000250}. NA central nervous system development (GO:0007417)|heart development (GO:0007507)|lactation (GO:0007595)|limb development (GO:0060173)|long-chain fatty acid metabolic process (GO:0001676)|maternal process involved in female pregnancy (GO:0060135)|odontogenesis (GO:0042476)|ovulation cycle process (GO:0022602)|peptide amidation (GO:0001519)|protein amidation (GO:0018032)|protein homooligomerization (GO:0051260)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of protein secretion (GO:0050708)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to pH (GO:0009268)|toxin metabolic process (GO:0009404) cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network (GO:0005802) calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|L-ascorbic acid binding (GO:0031418)|peptidylamidoglycolate lyase activity (GO:0004598)|peptidylglycine monooxygenase activity (GO:0004504)|zinc ion binding (GO:0008270) endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 25 all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284) Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127) Vitamin C(DB00126) GGGAAATTATAGACATCTTCA 0.393 NA A||| 1176 0.234824 0.112 0.2277 5008 , , NA 13755 0.4335 NA 0.2763 False NA ,,, NA NA NA 2504 0.1585 NA NA NA NA 0 A ,,,, 643,3763 275.4+/-272.5 44,555,1604 86 82 83 2307,2307,2307,1986,2307 0.7 1 5 dbSNP_120 83 2500,6100 409.3+/-349.8 354,1792,2154 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous PAM NM_000919.3,NM_001177306.1,NM_138766.2,NM_138821.2,NM_138822.2 ,,,, 398,2347,3758 CC,CA,AA 29.0698,14.5937,24.1658 ,,,, 769/975,769/974,769/906,662/867,769/888 102345546 3143,9863 2203 4300 6503 SO:0001819 synonymous_variant AB095007 CCDS4092.1, CCDS4093.1, CCDS4094.1, CCDS43348.1, CCDS54885.1 5q 2008-02-05 ENSG00000145730 ENSG00000145730 5066 1.14.17.3 8596 protein-coding gene gene with protein product peptidyl-alpha-hydroxyglycine alpha-amidating lyase, peptidylglycine alpha-hydroxylating monooxygenase 170270 NA 2357221 Standard NM_000919 NM_000919 NA Approved PAL, PHM uc003knt.3 P19021 OTTHUMG00000128729 ENST00000304400.7:c.2307A>C chr5.hg19:g.102345546A>C NA A6NMR0|A8K293|O43211|O95080|Q16252|Q16253|Q54A45|Q86U53|Q8WVC7|Q9UCG0 hg19 CCDS43348.1 0.02 11.011633 TATxGAC COVERED 596 0.27289377289377287 50 0.1016260162601626 91 0.2513812154696133 239 0.4178321678321678 216 0.2849604221635884 A 6.874 0.530566 0.13127 0.145937 0.290698 ENSG00000145730 ENST00000504691 . . . 5.8 0.673 0.17941 . . . . . . . . . . . 0.09310 P 1.0 . . . . . . . . . . . . . . 1.7 0.02870 0.5417:0.1061:0.2066:0.1456 rs11544128;rs17154927;rs17851622 . . . S 64 . . X + 2 0 PAM 102373445 1.000000 0.71417 0.966000 0.40874 0.672000 0.39443 0.738000 0.26158 -0.097000 0.12307 -0.361000 0.07541 TAG NOVEL PAM-029 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000381031.1 0 11.767659 KEEP 0 1 34 51 1552 AA 1 1 0 + 11 60 389 0 0 24.490754 243 60 8969 369 ENST00000304400.7 0.043307 1 GIN1 54826 __UNKNOWN__ __UNKNOWN__ 5 102432198 102432198 __UNKNOWN__ Intron SNP C C G rs75209620 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:102432198C>G ENST00000399004.2 - 7 1389 GIN1_ENST00000508629.1_Intron NM_017676.2 NP_060146.2 Q9NXP7 GIN1_HUMAN gypsy retrotransposon integrase 1 NA NA DNA integration (GO:0015074) nucleic acid binding (GO:0003676) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283) Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794) TTTAACTATTCTCCTTACCTA 0.348 NA C||| 51 0.0101837 0.0 0.0 5008 , , NA 19690 0.0496 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 77 73 74 NA NA 5 NA 102432198 1827 4078 5905 SO:0001627 intron_variant BC015325 CCDS43349.1 5q21.1 2008-02-11 2007-06-13 2007-06-13 ENSG00000145723 54826 25959 protein-coding gene gene with protein product gypsy integrase 1, Ty3/Gypsy integrase 1 zinc finger, H2C2 domain containing ZH2C2 NA 11470852 Standard NM_017676 NM_017676 NA Approved FLJ20125, GIN-1, TGIN1 uc003koa.1 Q9NXP7 ENST00000399004.2:c.1294+46G>C chr5.hg19:g.102432198C>G NA B2RXF7|B4DIV4|Q6AI03|Q96BR2 hg19 CCDS43349.1 0.02 7.013036 ATTxTCC COVERED NOVEL GIN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000370478.3 1 4.213475 KEEP 0 0 0 14 485 CC 0.995343 0.995343 0 - 9 60 344 0 0 23.005852 179 60 6741 226 ENST00000399004.2 0.047872 1 PPIP5K2 23262 __UNKNOWN__ __UNKNOWN__ 5 102456254 102456254 __UNKNOWN__ Intron SNP C C T rs26523 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:102456254C>T ENST00000321521.9 + 1 289 PPIP5K2_ENST00000513500.1_Intron|PPIP5K2_ENST00000358359.3_Intron O43314 VIP2_HUMAN diphosphoinositol pentakisphosphate kinase 2 NA NA inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829) acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827) NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 AGGGTTGAGGCGGCTGCTGGG 0.602 NA C||| 1083 0.216254 0.0598 0.219 5008 , , NA 16351 0.4484 NA 0.2714 False NA ,,, NA NA NA 2504 0.1299 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB007893 CCDS34207.1, CCDS64212.1, CCDS75283.1 5q21.1 2014-05-06 2010-01-26 2010-01-26 ENSG00000145725 ENSG00000145725 23262 2.7.4.24 29035 protein-coding gene gene with protein product 611648 histidine acid phosphatase domain containing 1 HISPPD1 NA 9455477, 17690096, 18981179 Standard NM_015216 NM_001276277 NA Approved KIAA0433, VIP2 uc003koe.4 O43314 OTTHUMG00000181461 ENST00000321521.9:c.-285+62C>T chr5.hg19:g.102456254C>T NA A1NI53|A6NGS8|Q8TB50 hg19 CCDS34207.1 0.02 1.928034 AGGxGGC COVERED NOVEL PPIP5K2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000370485.2 1 9.362026 KEEP 0 1 31 42 1343 CC 1 0.999948 0 + 5 60 169 0 0 10.726011 93 60 3026 160 ENST00000321521.9 0.05102 0.999948 PPIP5K2 23262 __UNKNOWN__ __UNKNOWN__ 5 102537379 102537379 __UNKNOWN__ 3'UTR SNP A A G rs28025 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:102537379A>G ENST00000321521.9 + 0 4286 PPIP5K2_ENST00000414217.1_3'UTR|PPIP5K2_ENST00000358359.3_3'UTR O43314 VIP2_HUMAN diphosphoinositol pentakisphosphate kinase 2 NA NA inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829) acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827) NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 TAAAAATAGTATGTTCTTATG 0.289 NA A||| 1132 0.226038 0.0938 0.2233 5008 , , NA 15540 0.4474 NA 0.2734 False NA ,,, NA NA NA 2504 0.1299 NA NA NA NA 0 A 516,3842 38,440,1701 31 34 33 -10.2 0 5 dbSNP_76 33 2439,6099 353,1733,2183 no utr-3 PPIP5K2 NM_015216.2 391,2173,3884 GG,GA,AA 28.5664,11.8403,22.9141 102537379 2955,9941 2179 4269 6448 SO:0001624 3_prime_UTR_variant AB007893 CCDS34207.1, CCDS64212.1, CCDS75283.1 5q21.1 2014-05-06 2010-01-26 2010-01-26 ENSG00000145725 ENSG00000145725 23262 2.7.4.24 29035 protein-coding gene gene with protein product 611648 histidine acid phosphatase domain containing 1 HISPPD1 NA 9455477, 17690096, 18981179 Standard NM_015216 NM_001276277 NA Approved KIAA0433, VIP2 uc003koe.4 O43314 OTTHUMG00000181461 ENST00000321521.9:c.*44A>G chr5.hg19:g.102537379A>G NA A1NI53|A6NGS8|Q8TB50 hg19 CCDS34207.1 0.02 6.957021 AGTxTGT COVERED NOVEL PPIP5K2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000370485.2 2 8.957963 KEEP 0 1 26 39 1172 AA 1 1 0 + 7 60 270 0 0 17.44089 176 60 6455 258 ENST00000321521.9 0.038251 1 C5orf30 90355 __UNKNOWN__ __UNKNOWN__ 5 102611449 102611449 __UNKNOWN__ Intron SNP C C T rs76116154 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:102611449C>T ENST00000319933.2 + 3 285 C5orf30_ENST00000515669.1_Intron|C5orf30_ENST00000510890.1_Intron NM_033211.2 NP_149988.1 Q96GV9 CE030_HUMAN chromosome 5 open reading frame 30 NA NA cilium morphogenesis (GO:0060271)|protein transport (GO:0015031) ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737) NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 9 all_cancers(142;2.22e-05)|all_epithelial(76;9.54e-08)|Prostate(80;0.0174)|Colorectal(57;0.0551)|Ovarian(225;0.11)|Lung NSC(167;0.136)|all_lung(232;0.18) Epithelial(69;2.84e-14)|COAD - Colon adenocarcinoma(37;0.00762) CGCTCTGAAACGTTTAGTAGA 0.428 NA C||| 25 0.00499201 0.0008 0.0072 5008 , , NA 19914 0.0179 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS4095.1 5q21.1 2012-02-23 ENSG00000181751 ENSG00000181751 90355 25052 protein-coding gene gene with protein product NA 22085962 Standard NM_033211 NM_033211 NA Approved FLJ25291 uc003kog.1 Q96GV9 OTTHUMG00000128738 ENST00000319933.2:c.-23-149C>T chr5.hg19:g.102611449C>T NA hg19 CCDS4095.1 0.02 6.425153 AAAxGTT COVERED NOVEL C5orf30-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250649.1 1 2.708484 KEEP 0 0 0 9 311 CC 0.99254 0.99254 0 + 8 60 294 0 0 19.340257 156 60 5678 179 ENST00000319933.2 0.04878 1 RP11-6N13.1 0 __UNKNOWN__ __UNKNOWN__ 5 103978817 103978817 __UNKNOWN__ lincRNA SNP A A G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:103978817A>G ENST00000503650.1 - 0 328 NA NA NA ggaaggaaggaaggaaggaag 0.363 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000503650.1: chr5.hg19:g.103978817A>G NA hg19 0.02 -0.394774 AGGxAGG COVERED NOVEL RP11-6N13.1-007 PUTATIVE basic lincRNA NA lincRNA OTTHUMT00000371852.1 3 4.814717 KEEP 1 0 0 16 503 AA 0.99649 0.923388 0 - 4 60 155 0 0 11.588231 40 60 1389 67 ENST00000503650.1 0.090909 0.92664 RP11-6N13.1 0 __UNKNOWN__ __UNKNOWN__ 5 103978821 103978821 __UNKNOWN__ lincRNA SNP A A G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:103978821A>G ENST00000503650.1 - 0 328 NA NA NA ggaaggaaggaaggaaggaag 0.358 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000503650.1: chr5.hg19:g.103978821A>G NA hg19 0.02 -0.428892 AGGxAGG COVERED NOVEL RP11-6N13.1-007 PUTATIVE basic lincRNA NA lincRNA OTTHUMT00000371852.1 3 4.814983 KEEP 1 0 0 16 519 AA 0.99649 0.951141 0 - 3 60 108 0 0 7.362756 45 60 1580 71 ENST00000503650.1 0.0625 0.954491 EFNA5 1946 __UNKNOWN__ __UNKNOWN__ 5 106713618 106713618 __UNKNOWN__ 3'UTR SNP A A G rs365807 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:106713618A>G ENST00000333274.6 - 0 4306 NM_001962.2 NP_001953.1 P52803 EFNA5_HUMAN ephrin-A5 NA NA axon guidance (GO:0007411)|ephrin receptor signaling pathway (GO:0048013)|nervous system development (GO:0007399)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell-cell adhesion (GO:0022407)|regulation of focal adhesion assembly (GO:0051893)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rho GTPase activity (GO:0032319)|retinal ganglion cell axon guidance (GO:0031290) anchored component of external side of plasma membrane (GO:0031362)|plasma membrane (GO:0005886) chemorepellent activity (GO:0045499)|ephrin receptor binding (GO:0046875) large_intestine(6) 6 all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241) Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109) CGATCAAAAAAGTCATGTTGT 0.483 NA A||| 1841 0.367612 0.4198 0.379 5008 , , NA 17635 0.4881 NA 0.2594 False NA ,,, NA NA NA 2504 0.2761 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U26403 CCDS4097.1 5q21 2011-03-09 ENSG00000184349 ENSG00000184349 1946 Ephrins 3225 protein-coding gene gene with protein product 601535 EPLG7 NA 8661153, 9245480 Standard NM_001962 NM_001962 NA Approved AF1, LERK7 uc003kol.3 P52803 OTTHUMG00000128741 ENST00000333274.6:c.*3338T>C chr5.hg19:g.106713618A>G NA hg19 CCDS4097.1 0.02 7.167693 AAAxGTC COVERED NOVEL EFNA5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250652.1 0 7.523438 KEEP 0 0 0 25 808 AA 0.999931 0.999931 0 - 6 60 232 0 0 14.970701 153 60 5668 215 ENST00000333274.6 0.037736 1 FER 2241 __UNKNOWN__ __UNKNOWN__ 5 108387280 108387280 __UNKNOWN__ Intron SNP G G A rs138794207 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:108387280G>A ENST00000281092.4 + 16 2308 FER_ENST00000438717.2_Intron NM_005246.2 NP_005237.2 P16591 FER_HUMAN fer (fps/fes related) tyrosine kinase NA NA actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503) cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634) ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713) NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2) 32 all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152) OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174) AAGAAGAATTGTTTCTGTCGC 0.478 NA G||| 4 0.000798722 0.0 0.0 5008 , , NA 20870 0.004 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA Colon(146;1051 1799 9836 27344 47401) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant J03358 CCDS4098.1 5q21 2013-02-14 2008-02-07 ENSG00000151422 ENSG00000151422 2241 2.7.10.1 Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits, SH2 domain containing 3655 protein-coding gene gene with protein product phosphoprotein NCP94, protein phosphatase 1, regulatory subunit 74 176942 NA Standard NM_005246 NM_005246 NA Approved TYK3, PPP1R74 uc003kop.1 P16591 OTTHUMG00000128751 ENST00000281092.4:c.1924+4381G>A chr5.hg19:g.108387280G>A NA B2RCR4|B4DSQ2|H2FLB8 hg19 CCDS4098.1 0.02 10.567106 ATTxTTT COVERED NOVEL FER-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250664.1 2 13.242145 KEEP 0 0 0 44 1537 GG 1 1 0 + 10 60 363 0 0 22.316378 272 60 10082 379 ENST00000281092.4 0.035461 1 MAN2A1 4124 __UNKNOWN__ __UNKNOWN__ 5 109110537 109110537 __UNKNOWN__ Silent SNP T T A rs6894260 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:109110537T>A ENST00000261483.4 + 8 2297 c.1245T>A c.(1243-1245)cgT>cgA p.R415R NM_002372.2 NP_002363.2 Q16706 MA2A1_HUMAN mannosidase, alpha, class 2A, member 1 415 NA cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033) cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020) carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270) breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141) AGCTTTTTCGTACCAAAGTTC 0.363 NA T||| 1683 0.336062 0.5552 0.3314 5008 , , NA 14466 0.2609 NA 0.3489 False NA ,,, NA NA NA 2504 0.1074 NA NA NA NA 0 T 2462,1942 621.9+/-393.8 701,1060,441 77 76 76 1245 -3.9 0.5 5 dbSNP_116 76 2914,5686 454.3+/-363.5 522,1870,1908 no coding-synonymous MAN2A1 NM_002372.2 1223,2930,2349 AA,AT,TT 33.8837,44.0963,41.3411 415/1145 109110537 5376,7628 2202 4300 6502 SO:0001819 synonymous_variant CCDS34209.1 5q21.3 2013-09-20 ENSG00000112893 ENSG00000112893 4124 3.2.1.114 6824 protein-coding gene gene with protein product golgi integral membrane protein 7 154582 MANA2 NA 1757461, 15004235 Standard NM_002372 NA Approved GOLIM7 uc003kou.1 Q16706 OTTHUMG00000162834 ENST00000261483.4:c.1245T>A chr5.hg19:g.109110537T>A NA Q16767 hg19 CCDS34209.1 0.02 12.364671 TCGxACC COVERED NOVEL MAN2A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000370680.1 0 16.681433 KEEP 0 1 33 67 2018 TT 1 1 0 + 12 60 432 0 0 26.440836 325 60 11460 528 ENST00000261483.4 0.035608 1 TSLP 85480 __UNKNOWN__ __UNKNOWN__ 5 110406742 110406742 __UNKNOWN__ 5'UTR SNP C C T rs3806933 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:110406742C>T ENST00000420978.2 + 0 983 Q969D9 TSLP_HUMAN thymic stromal lymphopoietin NA NA extracellular space (GO:0005615) breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1) 11 all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109) GTGCCCCTAGCCACCAAGAGT 0.453 NA T||| 2135 0.426318 0.2572 0.4813 5008 , , NA 19515 0.3502 NA 0.4543 False NA ,,, NA NA NA 2504 0.6656 NA NA NA NA 0 GRCh37 CR086597 TSLP R rs3806933 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant BC040592 CCDS4101.1 5q22.1 2007-08-24 ENSG00000145777 ENSG00000145777 85480 30743 protein-coding gene gene with protein product 607003 NA 11418668, 11480573 Standard NM_033035 NM_033035 NA Approved uc003kpb.2 Q969D9 OTTHUMG00000128791 ENST00000420978.2:c.-440C>T chr5.hg19:g.110406742C>T NA Q8IW99 hg19 0.02 3.787175 TAGxCAC COVERED NOVEL TSLP-002 PUTATIVE basic|appris_candidate_longest|exp_conf protein_coding NA protein_coding OTTHUMT00000250718.2 3 3.009642 KEEP 0 0 0 10 345 CC 0.992708 0.992708 0 + 6 60 212 0 0 13.183384 141 60 5113 177 ENST00000420978.2 0.040816 1 TSLP 85480 __UNKNOWN__ __UNKNOWN__ 5 110408705 110408705 __UNKNOWN__ Intron SNP C C T rs11466741 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:110408705C>T ENST00000420978.2 + 3 1638 TSLP_ENST00000344895.3_Intron Q969D9 TSLP_HUMAN thymic stromal lymphopoietin NA NA extracellular space (GO:0005615) breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1) 11 all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109) TATCCTGCTACGTGCAGAACT 0.617 NA T||| 1677 0.334864 0.326 0.4121 5008 , , NA 16648 0.2798 NA 0.3141 False NA ,,, NA NA NA 2504 0.3701 NA NA NA NA 0 T 394,990 65,264,363 59 53 55 -9.3 0 5 dbSNP_120 55 929,2253 139,651,801 no intron TSLP NM_033035.4 204,915,1164 TT,TC,CC 29.1955,28.4682,28.975 110408705 1323,3243 692 1591 2283 SO:0001627 intron_variant BC040592 CCDS4101.1 5q22.1 2007-08-24 ENSG00000145777 ENSG00000145777 85480 30743 protein-coding gene gene with protein product 607003 NA 11418668, 11480573 Standard NM_033035 NM_033035 NA Approved uc003kpb.2 Q969D9 OTTHUMG00000128791 ENST00000420978.2:c.216+75C>T chr5.hg19:g.110408705C>T NA Q8IW99 hg19 0.02 4.196813 CTAxGTG COVERED NOVEL TSLP-002 PUTATIVE basic|appris_candidate_longest|exp_conf protein_coding NA protein_coding OTTHUMT00000250718.2 3 4.814126 KEEP 0 0 0 16 503 CC 0.997832 0.997831 0 + 5 60 187 0 0 12.007533 118 60 3882 144 ENST00000420978.2 0.04065 0.999999 TSLP 85480 __UNKNOWN__ __UNKNOWN__ 5 110409067 110409067 __UNKNOWN__ Intron SNP C C G rs2289277 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:110409067C>G ENST00000420978.2 + 4 1638 TSLP_ENST00000344895.3_Intron|TSLP_ENST00000379706.4_5'UTR Q969D9 TSLP_HUMAN thymic stromal lymphopoietin NA NA extracellular space (GO:0005615) breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1) 11 all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109) CTACTCAACCCTGACCTCTTC 0.602 NA G||| 2384 0.476038 0.4349 0.4899 5008 , , NA 16036 0.3542 NA 0.4573 False NA ,,, NA NA NA 2504 0.6667 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC040592 CCDS4101.1 5q22.1 2007-08-24 ENSG00000145777 ENSG00000145777 85480 30743 protein-coding gene gene with protein product 607003 NA 11418668, 11480573 Standard NM_033035 NM_033035 NA Approved uc003kpb.2 Q969D9 OTTHUMG00000128791 ENST00000420978.2:c.217-142C>G chr5.hg19:g.110409067C>G NA Q8IW99 hg19 0.02 22.799548 ACCxTGA COVERED NOVEL TSLP-002 PUTATIVE basic|appris_candidate_longest|exp_conf protein_coding NA protein_coding OTTHUMT00000250718.2 8 21.306033 KEEP 0 1 38 84 3039 CC 1 1 0 + 20 60 676 0 0 38.926756 592 60 21882 813 ENST00000420978.2 0.03268 1 WDR36 134430 __UNKNOWN__ __UNKNOWN__ 5 110436450 110436450 __UNKNOWN__ Intron SNP C C T rs10038177 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:110436450C>T ENST00000513710.2 + 5 714 WDR36_ENST00000505303.1_Intron|WDR36_ENST00000506538.2_Intron Q8NI36 WDR36_HUMAN WD repeat domain 36 NA NA regulation of axon extension (GO:0030516)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|rRNA processing (GO:0006364)|visual perception (GO:0007601) nucleus (GO:0005634)|small-subunit processome (GO:0032040) poly(A) RNA binding (GO:0044822) cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111) AATAATATAGCTGTCACCTTA 0.343 NA T||| 2916 0.582268 0.7247 0.572 5008 , , NA 12595 0.4226 NA 0.4592 False NA ,,, NA NA NA 2504 0.6881 NA NA NA NA 0 T 2984,1420 445.5+/-347.7 1019,946,237 34 37 36 -0.8 0 5 dbSNP_119 36 3852,4728 597.6+/-393.8 859,2134,1297 no intron WDR36 NM_139281.2 1878,3080,1534 TT,TC,CC 44.8951,32.2434,47.3506 110436450 6836,6148 2202 4290 6492 SO:0001627 intron_variant AF385437 CCDS4102.1 5q22.2 2013-01-09 ENSG00000134987 ENSG00000134987 134430 WD repeat domain containing 30696 protein-coding gene gene with protein product 609669 glaucoma 1, open angle, G GLC1G NA 15590835, 15677485 Standard NM_139281 NM_139281 NA Approved TA-WDRP, UTP21 uc003kpd.3 Q8NI36 OTTHUMG00000128790 ENST00000513710.2:c.710+30C>T chr5.hg19:g.110436450C>T NA A2RUS4|Q68E02|Q8N1Q2 hg19 CCDS4102.1 0.02 -0.377253 TAGxTGT COVERED NOVEL WDR36-008 NOVEL not_organism_supported|basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000373504.3 0 4.815567 KEEP 0 0 0 16 580 CC 0.997832 0.907098 0 + 3 60 105 0 0 7.207511 40 60 1514 65 ENST00000513710.2 0.069767 0.909069 WDR36 134430 __UNKNOWN__ __UNKNOWN__ 5 110446741 110446741 __UNKNOWN__ Intron SNP C C A rs13161853 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:110446741C>A ENST00000513710.2 + 14 1779 WDR36_ENST00000505303.1_Intron|WDR36_ENST00000506538.2_Intron Q8NI36 WDR36_HUMAN WD repeat domain 36 NA NA regulation of axon extension (GO:0030516)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|rRNA processing (GO:0006364)|visual perception (GO:0007601) nucleus (GO:0005634)|small-subunit processome (GO:0032040) poly(A) RNA binding (GO:0044822) cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111) AAATCAGACTCTTTAATAAAG 0.308 NA A||| 2742 0.547524 0.6233 0.5648 5008 , , NA 17692 0.4117 NA 0.4443 False NA ,,, NA NA NA 2504 0.6789 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF385437 CCDS4102.1 5q22.2 2013-01-09 ENSG00000134987 ENSG00000134987 134430 WD repeat domain containing 30696 protein-coding gene gene with protein product 609669 glaucoma 1, open angle, G GLC1G NA 15590835, 15677485 Standard NM_139281 NM_139281 NA Approved TA-WDRP, UTP21 uc003kpd.3 Q8NI36 OTTHUMG00000128790 ENST00000513710.2:c.1775+89C>A chr5.hg19:g.110446741C>A NA A2RUS4|Q68E02|Q8N1Q2 hg19 CCDS4102.1 0.02 3.97646 ACTxTTT COVERED NOVEL WDR36-008 NOVEL not_organism_supported|basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000373504.3 1 3.009143 KEEP 0 0 0 10 315 CC 0.992708 0.992704 0 + 5 60 182 0 0 11.676204 109 60 3999 129 ENST00000513710.2 0.04386 0.999996 CAMK4 814 __UNKNOWN__ __UNKNOWN__ 5 110822930 110822930 __UNKNOWN__ 3'UTR SNP A A G rs75380774 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:110822930A>G ENST00000282356.4 + 0 4586 CAMK4_ENST00000512890.1_Intron NM_001744.4 NP_001735.1 Q16566 KCC4_HUMAN calcium/calmodulin-dependent protein kinase IV NA NA activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|long-term memory (GO:0007616)|myeloid dendritic cell differentiation (GO:0043011)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleocytoplasmic transport (GO:0006913)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of osteoclast differentiation (GO:0045670)|regulation of T cell differentiation in thymus (GO:0033081)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1) 30 all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109) GCAAACAATAAATTACATTTT 0.264 NA A||| 352 0.0702875 0.0333 0.1182 5008 , , NA 19065 0.1429 NA 0.0179 False NA ,,, NA NA NA 2504 0.0654 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D30742 CCDS4103.1 5q22.1 2012-09-20 ENSG00000152495 ENSG00000152495 814 2.7.11.17 1464 protein-coding gene gene with protein product brain Ca++-calmodulin-dependent protein kinase type IV, calcium/calmodulin-dependent protein kinase type IV catalytic chain, CAM kinase IV, CAM kinase- GR 114080 NA 2536634 Standard NM_001744 NM_001744 NA Approved CaMK-GR uc003kpf.3 Q16566 OTTHUMG00000128792 ENST00000282356.4:c.*2766A>G chr5.hg19:g.110822930A>G NA D3DSZ7 hg19 CCDS4103.1 0.02 9.450355 ATAxATT COVERED NOVEL CAMK4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250719.2 3 12.936919 KEEP 0 0 0 43 1327 AA 1 1 0 + 15 60 557 1 0 38.842769 213 60 7641 312 ENST00000282356.4 0.065789 1 REEP5 7905 __UNKNOWN__ __UNKNOWN__ 5 112222694 112222694 __UNKNOWN__ Intron SNP C C G rs712662 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:112222694C>G ENST00000513339.1 - 4 388 REEP5_ENST00000379638.4_Intron|CTC-487M23.8_ENST00000512790.1_Intron|CTC-487M23.8_ENST00000506997.1_Intron|REEP5_ENST00000545426.1_Intron Q00765 REEP5_HUMAN receptor accessory protein 5 NA NA extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) endometrium(1)|large_intestine(2)|lung(1)|ovary(1) 5 all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443) Epithelial(69;1.3e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.26e-08)|all cancers(49;3.56e-07)|Colorectal(14;0.00778)|COAD - Colon adenocarcinoma(37;0.013) GTGGGGCCATCTTGTTCCTGA 0.498 NA g||| 1778 0.355032 0.6082 0.2839 5008 , , NA 20136 0.1786 NA 0.3638 False NA ,,, NA NA NA 2504 0.2362 NA NA NA NA 0 G , 2523,1881 541.7+/-375.8 702,1119,381 206 182 190 , -2.8 0 5 dbSNP_86 190 2962,5638 668.1+/-402.5 528,1906,1866 no intron,intron SRP19,REEP5 NM_001204199.1,NM_005669.4 , 1230,3025,2247 GG,GC,CC 34.4419,42.7112,42.1793 , , 112222694 5485,7519 2202 4300 6502 SO:0001627 intron_variant BC000232 CCDS4109.2 5q22-q23 2008-02-05 2006-02-07 2006-02-07 ENSG00000129625 ENSG00000129625 7905 Receptor accessory proteins 30077 protein-coding gene gene with protein product deleted in polyposis 1, polyposis locus protein 1, polyposis coli region hypothetical protein DP1 125265 chromosome 5 open reading frame 18 C5orf18 NA 16271481, 15550249 Standard NM_005669 NM_005669 NA Approved DP1, TB2, D5S346 uc003kqe.1 Q00765 OTTHUMG00000128807 ENST00000513339.1:c.352-8162G>C chr5.hg19:g.112222694C>G NA B7Z681|D3DT04|Q04198|Q5QGT0|Q9BWH9 hg19 0.02 4.285521 CATxTTG COVERED NOVEL REEP5-007 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000370775.2 3 12.640837 KEEP 0 0 0 42 1475 CC 1 1 0 - 5 60 194 0 0 12.312406 142 60 5490 247 ENST00000513339.1 0.034014 1 REEP5 7905 __UNKNOWN__ __UNKNOWN__ 5 112228765 112228765 __UNKNOWN__ Intron SNP C C A rs459102 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:112228765C>A ENST00000513339.1 - 3 388 REEP5_ENST00000379638.4_Intron|CTC-487M23.8_ENST00000512790.1_3'UTR|REEP5_ENST00000504247.1_Intron|ZRSR1_ENST00000391338.1_Missense_Mutation_p.Q477K|REEP5_ENST00000545426.1_Intron|REEP5_ENST00000474542.2_Intron Q00765 REEP5_HUMAN receptor accessory protein 5 NA NA extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) endometrium(1)|large_intestine(2)|lung(1)|ovary(1) 5 all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443) Epithelial(69;1.3e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.26e-08)|all cancers(49;3.56e-07)|Colorectal(14;0.00778)|COAD - Colon adenocarcinoma(37;0.013) TCAGAGTCCCCAATCCAAATA 0.463 NA A||| 2349 0.46905 0.8533 0.3415 5008 , , NA 13121 0.3482 NA 0.3678 False NA ,,, NA NA NA 2504 0.2689 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC000232 CCDS4109.2 5q22-q23 2008-02-05 2006-02-07 2006-02-07 ENSG00000129625 ENSG00000129625 7905 Receptor accessory proteins 30077 protein-coding gene gene with protein product deleted in polyposis 1, polyposis locus protein 1, polyposis coli region hypothetical protein DP1 125265 chromosome 5 open reading frame 18 C5orf18 NA 16271481, 15550249 Standard NM_005669 NM_005669 NA Approved DP1, TB2, D5S346 uc003kqe.1 Q00765 OTTHUMG00000128807 ENST00000513339.1:c.351+9311G>T chr5.hg19:g.112228765C>A NA B7Z681|D3DT04|Q04198|Q5QGT0|Q9BWH9 hg19 0.02 1.710723 CCCxAAT COVERED 983 0.4500915750915751 404 0.8211382113821138 131 0.36187845303867405 183 0.31993006993006995 265 0.3496042216358839 A 3.274 -0.148580 0.06627 . . ENSG00000212643 ENST00000391338 . . . 1.48 1.48 0.22813 . 0.380640 0.28803 N 0.014099 T 0.00012 0.0000 . . . 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.41610 -0.9499 7 0.02654 T 1 . 5.7537 0.18160 0.7244:0.2756:0.0:0.0 rs459102;rs712667;rs818788;rs3193242;rs61177009 477 Q15695 U2AFL_HUMAN K 477 . ENSP00000375133:Q477K Q + 1 0 ZRSR1 112256664 0.981000 0.34729 0.037000 0.18230 0.060000 0.15804 0.237000 0.17985 0.051000 0.15978 -0.520000 0.04383 CAA NOVEL REEP5-007 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000370775.2 7 24.680207 KEEP 0 0 0 82 2873 CC 1 0.999962 0 - 4 60 145 0 0 9.118044 96 70 3580 239 ENST00000513339.1 0.04 0.999962 DCP2 167227 __UNKNOWN__ __UNKNOWN__ 5 112328377 112328377 __UNKNOWN__ Silent SNP A A G rs3733969 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:112328377A>G ENST00000389063.2 + 4 540 c.342A>G c.(340-342)ctA>ctG p.L114L DCP2_ENST00000543319.1_5'UTR|DCP2_ENST00000515408.1_Silent_p.L114L NM_152624.5 NP_689837 Q8IU60 DCP2_HUMAN decapping mRNA 2 114 Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}. NA exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503) cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)|RISC complex (GO:0016442) exoribonuclease activity, producing 5'-phosphomonoesters (GO:0016896)|m7G(5')pppN diphosphatase activity (GO:0050072)|manganese ion binding (GO:0030145)|RNA binding (GO:0003723) endometrium(3)|large_intestine(6)|lung(1) 10 all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443) OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171) AGGTACTACTAGTTCAGGGGT 0.383 NA G||| 3850 0.76877 0.8018 0.7752 5008 , , NA 15598 0.7629 NA 0.7485 False NA ,,, NA NA NA 2504 0.7464 NA NA NA NA 0 G , 3609,795 316.9+/-294.8 1475,659,68 82 81 81 342,342 4.7 1 5 dbSNP_107 81 6515,2085 361.4+/-332.3 2479,1557,264 no coding-synonymous,coding-synonymous DCP2 NM_001242377.1,NM_152624.5 , 3954,2216,332 GG,GA,AA 24.2442,18.0518,22.147 , 114/386,114/421 112328377 10124,2880 2202 4300 6502 SO:0001819 synonymous_variant AY135173 CCDS34210.1, CCDS56377.1 5q22 2013-05-02 2013-05-02 ENSG00000172795 ENSG00000172795 167227 3.6.1.62 Nudix motif containing 24452 protein-coding gene gene with protein product nudix (nucleoside diphosphate linked moiety X)-type motif 20, M(7)GpppN-mRNA hydrolase 609844 DCP2 decapping enzyme homolog (S. cerevisiae) NA 12218187, 12417715 Standard NM_152624 NM_152624 NA Approved NUDT20 uc003kqh.3 Q8IU60 OTTHUMG00000162853 ENST00000389063.2:c.342A>G chr5.hg19:g.112328377A>G NA C9J778|Q6P2D4|Q7Z5W5|Q8NBG5 hg19 CCDS34210.1 0.02 6.997702 ACTxGTT COVERED 1707 0.7815934065934066 394 0.8008130081300813 273 0.7541436464088398 470 0.8216783216783217 570 0.7519788918205804 G 9.504 1.104063 0.20632 0.819482 0.757558 ENSG00000172795 ENST00000513585 . . . 5.61 4.73 0.59995 . . . . . T 0.00012 0.0000 . . . 0.09310 P 1.0 . . . . . . T 0.20306 -1.0279 3 . . . -10.9939 8.4799 0.33036 0.0703:0.0:0.6563:0.2734 rs3733969;rs56818657;rs3733969 . . . G 96 . . S + 1 0 DCP2 112356276 1.000000 0.71417 1.000000 0.80357 0.991000 0.79684 0.696000 0.25541 0.733000 0.32492 -0.119000 0.15052 AGT NOVEL DCP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000370765.3 1 16.248414 KEEP 0 0 0 54 1695 AA 1 1 0 + 8 60 305 0 0 20.37396 159 60 5914 282 ENST00000389063.2 0.047904 1 DCP2 167227 __UNKNOWN__ __UNKNOWN__ 5 112349070 112349070 __UNKNOWN__ Silent SNP T T C rs9326869 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:112349070T>C ENST00000389063.2 + 11 1350 c.1152T>C c.(1150-1152)gcT>gcC p.A384A DCP2_ENST00000543319.1_Silent_p.A173A|DCP2_ENST00000515408.1_Silent_p.A349A NM_152624.5 NP_689837 Q8IU60 DCP2_HUMAN decapping mRNA 2 384 NA exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503) cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)|RISC complex (GO:0016442) exoribonuclease activity, producing 5'-phosphomonoesters (GO:0016896)|m7G(5')pppN diphosphatase activity (GO:0050072)|manganese ion binding (GO:0030145)|RNA binding (GO:0003723) endometrium(3)|large_intestine(6)|lung(1) 10 all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443) OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171) TAGAACATGCTGAGGGACAGC 0.388 NA C||| 3927 0.784145 0.8427 0.7824 5008 , , NA 20189 0.7817 NA 0.7435 False NA ,,, NA NA NA 2504 0.7505 NA NA NA NA 0 C , 3742,662 280.2+/-275.2 1586,570,46 176 158 164 1047,1152 -11.7 0 5 dbSNP_119 164 6504,2096 363.2+/-333.1 2466,1572,262 yes coding-synonymous,coding-synonymous DCP2 NM_001242377.1,NM_152624.5 , 4052,2142,308 CC,CT,TT 24.3721,15.0318,21.2089 , 349/386,384/421 112349070 10246,2758 2202 4300 6502 SO:0001819 synonymous_variant AY135173 CCDS34210.1, CCDS56377.1 5q22 2013-05-02 2013-05-02 ENSG00000172795 ENSG00000172795 167227 3.6.1.62 Nudix motif containing 24452 protein-coding gene gene with protein product nudix (nucleoside diphosphate linked moiety X)-type motif 20, M(7)GpppN-mRNA hydrolase 609844 DCP2 decapping enzyme homolog (S. cerevisiae) NA 12218187, 12417715 Standard NM_152624 NM_152624 NA Approved NUDT20 uc003kqh.3 Q8IU60 OTTHUMG00000162853 ENST00000389063.2:c.1152T>C chr5.hg19:g.112349070T>C NA C9J778|Q6P2D4|Q7Z5W5|Q8NBG5 hg19 CCDS34210.1 0.02 10.207972 TGCxGAG COVERED 1730 0.7921245421245421 416 0.8455284552845529 275 0.7596685082872928 474 0.8286713286713286 565 0.7453825857519789 c 1.115 -0.657084 0.03480 0.849682 0.756279 ENSG00000172795 ENST00000513585 . . . 5.83 -11.7 0.00046 . . . . . . . . . . . 0.09310 P 0.999999736177 . . . . . . . . . . . . . . 16.1037 0.81205 0.0659:0.086:0.065:0.7831 rs9326869;rs17312924;rs57559918;rs9326869 . . . R 366 . . X + 1 0 DCP2 112376969 0.000000 0.05858 0.003000 0.11579 0.206000 0.24218 -4.637000 0.00205 -3.211000 0.00214 -2.095000 0.00367 TGA NOVEL DCP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000370765.3 1 20.461603 KEEP 0 0 0 68 2141 TT 1 1 0 + 11 60 382 0 0 23.568439 255 60 9612 416 ENST00000389063.2 0.041353 1 DCP2 167227 __UNKNOWN__ __UNKNOWN__ 5 112349379 112349379 __UNKNOWN__ 3'UTR SNP T T C rs4705749 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:112349379T>C ENST00000389063.2 + 0 1659 DCP2_ENST00000543319.1_3'UTR|DCP2_ENST00000515408.1_3'UTR NM_152624.5 NP_689837 Q8IU60 DCP2_HUMAN decapping mRNA 2 NA NA exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503) cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)|RISC complex (GO:0016442) exoribonuclease activity, producing 5'-phosphomonoesters (GO:0016896)|m7G(5')pppN diphosphatase activity (GO:0050072)|manganese ion binding (GO:0030145)|RNA binding (GO:0003723) endometrium(3)|large_intestine(6)|lung(1) 10 all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443) OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171) TTTATACAGATTTACCTTTTC 0.333 NA T||| 2236 0.446486 0.0847 0.6095 5008 , , NA 21252 0.6062 NA 0.5099 False NA ,,, NA NA NA 2504 0.59 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY135173 CCDS34210.1, CCDS56377.1 5q22 2013-05-02 2013-05-02 ENSG00000172795 ENSG00000172795 167227 3.6.1.62 Nudix motif containing 24452 protein-coding gene gene with protein product nudix (nucleoside diphosphate linked moiety X)-type motif 20, M(7)GpppN-mRNA hydrolase 609844 DCP2 decapping enzyme homolog (S. cerevisiae) NA 12218187, 12417715 Standard NM_152624 NM_152624 NA Approved NUDT20 uc003kqh.3 Q8IU60 OTTHUMG00000162853 ENST00000389063.2:c.*198T>C chr5.hg19:g.112349379T>C NA C9J778|Q6P2D4|Q7Z5W5|Q8NBG5 hg19 CCDS34210.1 0.02 9.437766 AGAxTTA COVERED NOVEL DCP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000370765.3 0 14.442734 KEEP 0 0 0 48 1507 TT 1 1 0 + 9 60 347 0 0 22.713868 209 60 7607 311 ENST00000389063.2 0.041284 1 DCP2 167227 __UNKNOWN__ __UNKNOWN__ 5 112354898 112354898 __UNKNOWN__ 3'UTR SNP C C G rs17372511 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:112354898C>G ENST00000389063.2 + 0 7178 DCP2_ENST00000515408.1_3'UTR NM_152624.5 NP_689837 Q8IU60 DCP2_HUMAN decapping mRNA 2 NA NA exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503) cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)|RISC complex (GO:0016442) exoribonuclease activity, producing 5'-phosphomonoesters (GO:0016896)|m7G(5')pppN diphosphatase activity (GO:0050072)|manganese ion binding (GO:0030145)|RNA binding (GO:0003723) endometrium(3)|large_intestine(6)|lung(1) 10 all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443) OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171) GCAGGCATATCCTTTTGTGAT 0.343 NA G||| 2493 0.497804 0.2806 0.6282 5008 , , NA 20617 0.5893 NA 0.5139 False NA ,,, NA NA NA 2504 0.5879 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY135173 CCDS34210.1, CCDS56377.1 5q22 2013-05-02 2013-05-02 ENSG00000172795 ENSG00000172795 167227 3.6.1.62 Nudix motif containing 24452 protein-coding gene gene with protein product nudix (nucleoside diphosphate linked moiety X)-type motif 20, M(7)GpppN-mRNA hydrolase 609844 DCP2 decapping enzyme homolog (S. cerevisiae) NA 12218187, 12417715 Standard NM_152624 NM_152624 NA Approved NUDT20 uc003kqh.3 Q8IU60 OTTHUMG00000162853 ENST00000389063.2:c.*5717C>G chr5.hg19:g.112354898C>G NA C9J778|Q6P2D4|Q7Z5W5|Q8NBG5 hg19 CCDS34210.1 0.02 9.751644 TATxCTT COVERED NOVEL DCP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000370765.3 4 12.712505 KEEP 0 2 71 67 2313 CC 1 1 0 + 10 60 390 0 0 26.422873 195 60 7133 346 ENST00000389063.2 0.04878 1 DCP2 167227 __UNKNOWN__ __UNKNOWN__ 5 112355668 112355668 __UNKNOWN__ 3'UTR SNP C C G rs4778 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:112355668C>G ENST00000389063.2 + 0 7948 DCP2_ENST00000515408.1_3'UTR NM_152624.5 NP_689837 Q8IU60 DCP2_HUMAN decapping mRNA 2 NA NA exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503) cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)|RISC complex (GO:0016442) exoribonuclease activity, producing 5'-phosphomonoesters (GO:0016896)|m7G(5')pppN diphosphatase activity (GO:0050072)|manganese ion binding (GO:0030145)|RNA binding (GO:0003723) endometrium(3)|large_intestine(6)|lung(1) 10 all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443) OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171) TAAGACTTGACTTTTTAATAC 0.323 NA C||| 2167 0.432708 0.0658 0.6023 5008 , , NA 16931 0.5873 NA 0.492 False NA ,,, NA NA NA 2504 0.5879 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY135173 CCDS34210.1, CCDS56377.1 5q22 2013-05-02 2013-05-02 ENSG00000172795 ENSG00000172795 167227 3.6.1.62 Nudix motif containing 24452 protein-coding gene gene with protein product nudix (nucleoside diphosphate linked moiety X)-type motif 20, M(7)GpppN-mRNA hydrolase 609844 DCP2 decapping enzyme homolog (S. cerevisiae) NA 12218187, 12417715 Standard NM_152624 NM_152624 NA Approved NUDT20 uc003kqh.3 Q8IU60 OTTHUMG00000162853 ENST00000389063.2:c.*6487C>G chr5.hg19:g.112355668C>G NA C9J778|Q6P2D4|Q7Z5W5|Q8NBG5 hg19 CCDS34210.1 0.02 11.267865 TGAxTTT COVERED NOVEL DCP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000370765.3 2 13.015207 KEEP 0 2 77 70 2463 CC 1 1 0 + 8 60 302 0 0 18.091094 285 60 10727 435 ENST00000389063.2 0.027304 1 MCC 4163 __UNKNOWN__ __UNKNOWN__ 5 112358493 112358493 __UNKNOWN__ 3'UTR SNP G G A rs2112452 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:112358493G>A ENST00000302475.4 - 0 7559 MCC_ENST00000514701.3_5'UTR NM_002387.2 NP_002378 P23508 CRCM_HUMAN mutated in colorectal cancers NA NA negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055) cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886) receptor activity (GO:0004872) endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) TTAGCAGATGGATGACTGTGG 0.403 NA A||| 3814 0.761581 0.795 0.7738 5008 , , NA 22022 0.7599 NA 0.7256 False NA ,,, NA NA NA 2504 0.7464 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS4111.1, CCDS43351.1 5q21-q22 2013-01-10 ENSG00000171444 ENSG00000171444 4163 EF-hand domain containing 6935 protein-coding gene gene with protein product 159350 NA 1848370 Standard NM_001085377 NM_002387 NA Approved uc003kql.4 P23508 OTTHUMG00000128804 ENST00000302475.4:c.*4506C>T chr5.hg19:g.112358493G>A NA D3DT05|Q6ZR04 hg19 CCDS4111.1 0.02 10.425819 ATGxATG COVERED NOVEL MCC-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000250736.3 3 13.543304 KEEP 0 0 0 45 1550 GG 1 1 0 - 15 60 523 0 0 33.729339 283 60 10447 381 ENST00000302475.4 0.050336 1 MCC 4163 __UNKNOWN__ __UNKNOWN__ 5 112361331 112361331 __UNKNOWN__ 3'UTR SNP A A G rs6869100 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:112361331A>G ENST00000302475.4 - 0 4721 MCC_ENST00000514701.3_5'UTR NM_002387.2 NP_002378 P23508 CRCM_HUMAN mutated in colorectal cancers NA NA negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055) cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886) receptor activity (GO:0004872) endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) CTTTGACCAAATGATTGACAG 0.413 NA A||| 2469 0.493011 0.2579 0.6268 5008 , , NA 16980 0.5933 NA 0.5139 False NA ,,, NA NA NA 2504 0.591 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS4111.1, CCDS43351.1 5q21-q22 2013-01-10 ENSG00000171444 ENSG00000171444 4163 EF-hand domain containing 6935 protein-coding gene gene with protein product 159350 NA 1848370 Standard NM_001085377 NM_002387 NA Approved uc003kql.4 P23508 OTTHUMG00000128804 ENST00000302475.4:c.*1668T>C chr5.hg19:g.112361331A>G NA D3DT05|Q6ZR04 hg19 CCDS4111.1 0.02 4.100352 CAAxTGA COVERED NOVEL MCC-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000250736.3 13 20.099297 KEEP 0 1 14 72 2207 AA 1 1 0 - 8 70 277 0 0 18.38262 126 70 4363 285 ENST00000302475.4 0.059701 1 MCC 4163 __UNKNOWN__ __UNKNOWN__ 5 112379434 112379434 __UNKNOWN__ Intron SNP T T A rs4705755 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:112379434T>A ENST00000408903.3 - 17 3071 MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Intron|MCC_ENST00000302475.4_Intron NM_001085377.1 NP_001078846 P23508 CRCM_HUMAN mutated in colorectal cancers NA NA negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055) cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886) receptor activity (GO:0004872) endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) GGCAGCAGTGTGGGCACCGGG 0.622 NA OREG0016728 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) T||| 2468 0.492812 0.267 0.6138 5008 , , NA 18225 0.5952 NA 0.5129 False NA ,,, NA NA NA 2504 0.5859 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS4111.1, CCDS43351.1 5q21-q22 2013-01-10 ENSG00000171444 ENSG00000171444 4163 EF-hand domain containing 6935 protein-coding gene gene with protein product 159350 NA 1848370 Standard NM_001085377 NM_002387 NA Approved uc003kql.4 P23508 OTTHUMG00000128804 ENST00000408903.3:c.2656-107A>T chr5.hg19:g.112379434T>A 1442 D3DT05|Q6ZR04 hg19 CCDS43351.1 0.02 1.924511 GTGxGGG COVERED NOVEL MCC-003 PUTATIVE basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000370839.1 1 2.740987 KEEP 0 1 31 20 610 TT 0.999869 0.999595 0 - 4 60 152 0 0 10.063888 83 60 3025 109 ENST00000408903.3 0.045977 0.999726 MCC 4163 __UNKNOWN__ __UNKNOWN__ 5 112399791 112399791 __UNKNOWN__ Silent SNP G G A rs2227947 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:112399791G>A ENST00000408903.3 - 14 2518 c.2103C>T c.(2101-2103)aaC>aaT p.N701N MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Silent_p.N448N|MCC_ENST00000302475.4_Silent_p.N511N NM_001085377.1 NP_001078846 P23508 CRCM_HUMAN mutated in colorectal cancers 511 NA negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055) cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886) receptor activity (GO:0004872) endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) CCTTGGCAGCGTTCTCAGCTG 0.597 NA G||| 2571 0.513379 0.1407 0.67 5008 , , NA 21510 0.6349 NA 0.6571 False NA ,,, NA NA NA 2504 0.6329 NA NA NA NA 0 G , 941,3463 355.6+/-313.1 112,717,1373 70 66 68 2103,1533 -3.2 1 5 dbSNP_98 68 5505,3095 658.1+/-401.5 1761,1983,556 no coding-synonymous,coding-synonymous MCC NM_001085377.1,NM_002387.2 , 1873,2700,1929 AA,AG,GG 35.9884,21.3669,49.5694 , 701/1020,511/830 112399791 6446,6558 2202 4300 6502 SO:0001819 synonymous_variant CCDS4111.1, CCDS43351.1 5q21-q22 2013-01-10 ENSG00000171444 ENSG00000171444 4163 EF-hand domain containing 6935 protein-coding gene gene with protein product 159350 NA 1848370 Standard NM_001085377 NM_002387 NA Approved uc003kql.4 P23508 OTTHUMG00000128804 ENST00000408903.3:c.2103C>T chr5.hg19:g.112399791G>A NA D3DT05|Q6ZR04 hg19 CCDS43351.1 0.02 1.836877 AGCxTTC COVERED NOVEL MCC-003 PUTATIVE basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000370839.1 2 14.980213 KEEP 0 1 32 61 2055 GG 1 0.99994 0 - 4 60 146 0 0 9.272427 93 60 3176 200 ENST00000408903.3 0.041237 0.99994 MCC 4163 __UNKNOWN__ __UNKNOWN__ 5 112487137 112487137 __UNKNOWN__ Intron SNP A A C rs1947026 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:112487137A>C ENST00000408903.3 - 4 1043 MCC_ENST00000514701.3_Intron|MCC_ENST00000515367.2_Intron|MCC_ENST00000302475.4_Intron NM_001085377.1 NP_001078846 P23508 CRCM_HUMAN mutated in colorectal cancers NA NA negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055) cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886) receptor activity (GO:0004872) endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) GACAGAAAGGAGGAGATTAGA 0.428 NA A||| 3315 0.661941 0.5477 0.6715 5008 , , NA 19148 0.7758 NA 0.7177 False NA ,,, NA NA NA 2504 0.635 NA NA NA NA 0 A , 2433,1971 613.3+/-392.2 686,1061,455 68 62 64 , -0.9 0 5 dbSNP_92 64 6119,2481 687.1+/-404.2 2174,1771,355 no intron,intron MCC NM_001085377.1,NM_002387.2 , 2860,2832,810 CC,CA,AA 28.8488,44.7548,34.2356 , , 112487137 8552,4452 2202 4300 6502 SO:0001627 intron_variant CCDS4111.1, CCDS43351.1 5q21-q22 2013-01-10 ENSG00000171444 ENSG00000171444 4163 EF-hand domain containing 6935 protein-coding gene gene with protein product 159350 NA 1848370 Standard NM_001085377 NM_002387 NA Approved uc003kql.4 P23508 OTTHUMG00000128804 ENST00000408903.3:c.628-18T>G chr5.hg19:g.112487137A>C NA D3DT05|Q6ZR04 hg19 CCDS43351.1 0.02 8.621716 AGGxGGA COVERED NOVEL MCC-003 PUTATIVE basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000370839.1 3 19.555989 KEEP 0 0 0 65 1974 AA 1 1 0 - 8 60 286 0 0 17.501088 212 60 7907 326 ENST00000408903.3 0.036364 1 TSSK1B 83942 __UNKNOWN__ __UNKNOWN__ 5 112768874 112768874 __UNKNOWN__ 3'UTR SNP C C T rs71577448 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:112768874C>T ENST00000390666.3 - 0 1854 CTD-2201G3.1_ENST00000416046.2_RNA|MCC_ENST00000408903.3_Intron NM_032028.3 NP_114417.1 Q9BXA7 TSSK1_HUMAN testis-specific serine kinase 1B NA NA multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286) cytoplasmic vesicle (GO:0031410)|motile cilium (GO:0031514) ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674) large_intestine(8)|ovary(2)|skin(2)|stomach(1) 13 all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156) Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449) GGAGTCGGAGCCCCCGAGGCT 0.587 NA C||| 495 0.0988419 0.0325 0.0994 5008 , , NA 11805 0.0823 NA 0.1819 False NA ,,, NA NA NA 2504 0.1196 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF348076 CCDS4112.1 5q22.2 2008-10-23 2007-01-30 2007-01-30 ENSG00000212122 ENSG00000212122 83942 14968 protein-coding gene gene with protein product 610709 serine/threonine kinase 22D (spermiogenesis associated), testis-specific serine kinase 1 STK22D, TSSK1 NA 15044604 Standard NM_032028 NM_032028 NA Approved SPOGA4, FKSG81 uc003kqm.2 Q9BXA7 OTTHUMG00000128835 ENST00000390666.3:c.*559G>A chr5.hg19:g.112768874C>T NA B2R8D9 hg19 CCDS4112.1 0.02 3.719849 GAGxCCC COVERED NOVEL TSSK1B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250774.2 0 11.374427 KEEP 0 0 0 38 1326 CC 1 1 0 - 5 60 172 0 0 10.356672 127 60 4673 207 ENST00000390666.3 0.037879 1 YTHDC2 64848 __UNKNOWN__ __UNKNOWN__ 5 112899573 112899573 __UNKNOWN__ Silent SNP T T C rs6867579 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:112899573T>C ENST00000161863.4 + 20 2673 c.2460T>C c.(2458-2460)gaT>gaC p.D820D NM_022828.3 NP_073739.3 Q9H6S0 YTDC2_HUMAN YTH domain containing 2 820 NA ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612) endoplasmic reticulum (GO:0005783) ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186) NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594) ATGCAATGGATACATGGGAAG 0.368 NA T||| 469 0.0936502 0.025 0.0908 5008 , , NA 16509 0.0794 NA 0.1759 False NA ,,, NA NA NA 2504 0.1186 NA NA NA NA 0 T 217,4187 131.4+/-167.9 4,209,1989 160 146 151 2460 1.3 1 5 dbSNP_116 151 1476,7124 282.1+/-295.4 136,1204,2960 no coding-synonymous YTHDC2 NM_022828.3 140,1413,4949 CC,CT,TT 17.1628,4.9273,13.0191 820/1431 112899573 1693,11311 2202 4300 6502 SO:0001819 synonymous_variant AK000915 CCDS4113.1 5q22.3 2008-02-05 ENSG00000047188 ENSG00000047188 64848 24721 protein-coding gene gene with protein product NA 12477932 Standard NM_022828 NM_022828 NA Approved FLJ2194, FLJ10053, DKFZp564A186 uc003kqn.3 Q9H6S0 OTTHUMG00000128837 ENST00000161863.4:c.2460T>C chr5.hg19:g.112899573T>C NA B2RP66 hg19 CCDS4113.1 0.02 1.877359 GGAxACA COVERED NOVEL YTHDC2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250776.2 2 3.910228 KEEP 0 0 0 13 374 TT 0.994391 0.993712 0 + 4 60 147 0 0 9.69154 77 60 2794 98 ENST00000161863.4 0.049383 0.999317 KCNN2 3781 __UNKNOWN__ __UNKNOWN__ 5 113831758 113831758 __UNKNOWN__ Missense_Mutation SNP T T C rs76514592 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:113831758T>C ENST00000512097.3 + 9 2637 c.1619T>C c.(1618-1620)aTt>aCt p.I540T KCNN2_ENST00000264773.3_Missense_Mutation_p.I540T|RP11-492A10.1_ENST00000514115.1_RNA|KCNN2_ENST00000503706.1_Missense_Mutation_p.I192T Q9H2S1 KCNN2_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 540 NA potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268) dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018) alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286) breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) Miconazole(DB01110)|Procaine(DB00721) AGAGATTTCATTGAGGCTCAG 0.547 NA T||| 14 0.00279553 0.0 0.0 5008 , , NA 18140 0.0139 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 T THR/ILE,THR/ILE 1,4403 2.1+/-5.4 0,1,2201 123 120 121 1619,575 4.1 0 5 dbSNP_131 121 0,8600 0,0,4300 yes missense,missense KCNN2 NM_021614.2,NM_170775.1 89,89 0,1,6501 CC,CT,TT 0.0,0.0227,0.0077 benign,benign 540/580,192/232 113831758 1,13003 2202 4300 6502 SO:0001583 missense AF239613 CCDS4114.1, CCDS43352.1 5q22.3 2012-07-05 ENSG00000080709 ENSG00000080709 3781 Potassium channels, Voltage-gated ion channels / Potassium channels, calcium-activated 6291 protein-coding gene gene with protein product 605879 NA 16382103 Standard NM_021614 NM_001278204 NA Approved KCa2.2, hSK2 uc003kqo.3 Q9H2S1 OTTHUMG00000128836 ENST00000512097.3:c.1619T>C chr5.hg19:g.113831758T>C ENSP00000427120:p.Ile540Thr NA A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2 hg19 CCDS4114.1 0.02 15.877267 TCAxTGA COVERED 6 0.0027472527472527475 0 0.0 0 0.0 6 0.01048951048951049 0 0.0 T 13.60 2.286326 0.40494 2.27E-4 0.0 ENSG00000080709 ENST00000264773;ENST00000503706 D;D 0.98400 -4.91;-3.22 5.28 4.13 0.48395 . 0.677583 0.15754 N 0.246296 D 0.93621 0.7963 L 0.29908 0.895 0.09310 N 0.999997 B 0.26318 0.146 B 0.25759 0.063 D 0.89163 0.3531 10 0.56958 D 0.05 . 10.4148 0.44316 0.0:0.077:0.0:0.923 . 540 Q9H2S1 KCNN2_HUMAN T 540;192 ENSP00000264773:I540T;ENSP00000421439:I192T ENSP00000264773:I540T I + 2 0 KCNN2 113859657 1.000000 0.71417 0.001000 0.08648 0.904000 0.53231 7.596000 0.82721 0.875000 0.35847 0.523000 0.50628 ATT NOVEL KCNN2-001 KNOWN not_organism_supported|upstream_ATG|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250775.2 0 12.337742 KEEP 0 0 0 41 1305 TT 1 1 0 + 10 60 386 0 0 23.425711 359 60 13041 474 ENST00000512097.3 0.0271 1 TRIM36 55521 __UNKNOWN__ __UNKNOWN__ 5 114469724 114469724 __UNKNOWN__ Missense_Mutation SNP T T C rs17137481 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:114469724T>C ENST00000282369.3 - 8 1488 c.1367A>G c.(1366-1368)aAt>aGt p.N456S TRIM36_ENST00000514154.1_Missense_Mutation_p.N301S|TRIM36_ENST00000513154.1_Missense_Mutation_p.N444S NM_018700.3 NP_061170.2 Q9NQ86 TRI36_HUMAN tripartite motif containing 36 456 Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}. NA N -> S (in dbSNP:rs17137481). {ECO:0000269|PubMed:15145053}. acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726) acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062) ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 37 all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195) OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06) ATCATCTCTATTGATTTTCCG 0.343 NA T||| 973 0.194289 0.1309 0.2378 5008 , , NA 15436 0.3958 NA 0.0417 False NA ,,, NA NA NA 2504 0.1984 NA NA NA NA 0 T SER/ASN 563,3841 253.0+/-259.1 35,493,1674 139 127 131 1367 2.9 0 5 dbSNP_123 131 406,8194 128.7+/-186.9 6,394,3900 yes missense TRIM36 NM_018700.3 46 41,887,5574 CC,CT,TT 4.7209,12.7838,7.4516 benign 456/729 114469724 969,12035 2202 4300 6502 SO:0001583 missense AJ272269 CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1 5q22 2013-02-11 2011-01-25 ENSG00000152503 ENSG00000152503 55521 Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers, Fibronectin type III domain containing 16280 protein-coding gene gene with protein product zinc-binding protein Rbcc728, tripartite motif protein 36, RING finger protein 98 609317 tripartite motif-containing 36 NA 11331580 Standard NM_018700 XM_005272031 NA Approved RBCC728, RNF98, HAPRIN uc003kqs.3 Q9NQ86 OTTHUMG00000128892 ENST00000282369.3:c.1367A>G chr5.hg19:g.114469724T>C ENSP00000282369:p.Asn456Ser NA A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9 hg19 CCDS4115.1 0.02 6.505498 CTAxTGA COVERED 378 0.17307692307692307 69 0.1402439024390244 63 0.17403314917127072 217 0.3793706293706294 29 0.03825857519788918 T 1.817 -0.473143 0.04445 0.127838 0.047209 ENSG00000152503 ENST00000282369;ENST00000513154;ENST00000514154 T;T;T 0.58652 0.32;0.32;0.32 5.63 2.86 0.33363 Fibronectin, type III (4);Immunoglobulin-like fold (1); 0.671814 0.16344 N 0.218520 T 0.00012 0.0000 L 0.31752 0.955 0.58432 P 1.0000000000287557E-6 B;B 0.02656 0.0;0.0 B;B 0.09377 0.004;0.004 T 0.34054 -0.9844 9 0.38643 T 0.18 . 8.7327 0.34510 0.0:0.0735:0.2753:0.6511 rs17137481;rs52807614;rs57458782;rs17137481 444;456 E9PFI8;Q9NQ86 .;TRI36_HUMAN S 456;444;301 ENSP00000282369:N456S;ENSP00000423934:N444S;ENSP00000424259:N301S ENSP00000282369:N456S N - 2 0 TRIM36 114497623 0.092000 0.21681 0.033000 0.17914 0.688000 0.40055 0.275000 0.18698 0.903000 0.36546 0.533000 0.62120 AAT NOVEL TRIM36-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250854.2 0 5.416529 KEEP 0 0 0 18 576 TT 0.999859 0.999859 0 - 6 60 231 0 0 14.413325 183 60 6673 234 ENST00000282369.3 0.031746 1 TRIM36 55521 __UNKNOWN__ __UNKNOWN__ 5 114480364 114480364 __UNKNOWN__ Silent SNP C C T rs7716270 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:114480364C>T ENST00000282369.3 - 4 823 c.702G>A c.(700-702)ctG>ctA p.L234L TRIM36_ENST00000514154.1_Silent_p.L79L|TRIM36_ENST00000513154.1_Silent_p.L222L NM_018700.3 NP_061170.2 Q9NQ86 TRI36_HUMAN tripartite motif containing 36 234 NA acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726) acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062) ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 37 all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195) OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06) CCAACTTACACAGATGGCAAA 0.378 NA T||| 1704 0.340256 0.5787 0.2896 5008 , , NA 18668 0.4345 NA 0.0785 False NA ,,, NA NA NA 2504 0.226 NA NA NA NA 0 T 2279,2125 577.0+/-384.4 608,1063,531 138 129 132 702 0.9 1 5 dbSNP_116 132 830,7770 781.4+/-407.6 42,746,3512 no coding-synonymous TRIM36 NM_018700.3 650,1809,4043 TT,TC,CC 9.6512,48.2516,23.908 234/729 114480364 3109,9895 2202 4300 6502 SO:0001819 synonymous_variant AJ272269 CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1 5q22 2013-02-11 2011-01-25 ENSG00000152503 ENSG00000152503 55521 Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers, Fibronectin type III domain containing 16280 protein-coding gene gene with protein product zinc-binding protein Rbcc728, tripartite motif protein 36, RING finger protein 98 609317 tripartite motif-containing 36 NA 11331580 Standard NM_018700 XM_005272031 NA Approved RBCC728, RNF98, HAPRIN uc003kqs.3 Q9NQ86 OTTHUMG00000128892 ENST00000282369.3:c.702G>A chr5.hg19:g.114480364C>T NA A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9 hg19 CCDS4115.1 0.02 15.411093 ACAxAGA COVERED NOVEL TRIM36-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250854.2 3 15.651211 KEEP 0 0 0 52 1860 CC 1 1 0 - 14 60 523 0 0 32.824321 374 60 14446 566 ENST00000282369.3 0.036082 1 PGGT1B 5229 __UNKNOWN__ __UNKNOWN__ 5 114546906 114546906 __UNKNOWN__ 3'UTR SNP C C T rs265421 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:114546906C>T ENST00000419445.1 - 0 2347 NM_005023.3 NP_005014.2 P53609 PGTB1_HUMAN protein geranylgeranyltransferase type I, beta subunit NA NA negative regulation of nitric-oxide synthase biosynthetic process (GO:0051771)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|protein geranylgeranylation (GO:0018344)|response to cytokine (GO:0034097) CAAX-protein geranylgeranyltransferase complex (GO:0005953) CAAX-protein geranylgeranyltransferase activity (GO:0004662)|protein geranylgeranyltransferase activity (GO:0004661)|zinc ion binding (GO:0008270) breast(2)|endometrium(1)|large_intestine(2)|lung(1) 6 all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195) Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06) GAGCAAGTAACGGATATGAGT 0.313 NA T||| 3852 0.769169 0.9584 0.6066 5008 , , NA 16092 0.8393 NA 0.6332 False NA ,,, NA NA NA 2504 0.6963 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS4116.1 5q23.1 2008-02-05 ENSG00000164219 ENSG00000164219 5229 8895 protein-coding gene gene with protein product 602031 NA 8106351 Standard NM_005023 NM_005023 NA Approved GGTI, BGGI uc003kqw.4 P53609 OTTHUMG00000128893 ENST00000419445.1:c.*1193G>A chr5.hg19:g.114546906C>T NA Q5MJP9 hg19 CCDS4116.1 0.02 11.287566 TAAxGGA COVERED NOVEL PGGT1B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250855.2 5 7.860515 KEEP 0 1 34 38 1307 CC 1 1 0 - 11 60 409 0 0 26.225794 257 60 8876 374 ENST00000419445.1 0.041045 1 AP3S1 1176 __UNKNOWN__ __UNKNOWN__ 5 115177621 115177621 __UNKNOWN__ 5'UTR SNP T T G rs62371472 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:115177621T>G ENST00000316788.7 + 0 444 NM_001284.2 NP_001275.1 Q92572 AP3S1_HUMAN adaptor-related protein complex 3, sigma 1 subunit NA NA anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transport (GO:0006886) AP-3 adaptor complex (GO:0030123)|AP-type membrane coat adaptor complex (GO:0030119)|Golgi apparatus (GO:0005794)|transport vesicle (GO:0030133) protein transporter activity (GO:0008565)|transporter activity (GO:0005215) cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1) 12 all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245) OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05) GCGCGCGCGGTCGCGTGCGGG 0.761 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant D63643 CCDS4123.1 5q22 2010-06-29 ENSG00000177879 ENSG00000177879 1176 2013 protein-coding gene gene with protein product 601507 CLAPS3 NA 8697810, 9118953 Standard NM_001284 NA Approved uc003krl.3 Q92572 OTTHUMG00000128887 ENST00000316788.7:c.-114T>G chr5.hg19:g.115177621T>G NA O00647|O00676|O00721|O00727|Q53XL4|Q6ICQ2 hg19 CCDS4123.1 0.02 5.018742 CGGxCGC COVERED NOVEL AP3S1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250847.2 10 15.915743 KEEP 0 2 71 78 2279 TT 1 0.999992 0 + 8 60 288 0 0 20.340564 97 60 3122 224 ENST00000316788.7 0.07619 0.999992 AQPEP 0 __UNKNOWN__ __UNKNOWN__ 5 115363281 115363281 __UNKNOWN__ 3'UTR SNP T T G rs79790545 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:115363281T>G ENST00000357872.4 + 0 4563 CTD-2287O16.3_ENST00000600981.3_Intron NM_173800.4 NP_776161.3 Q6Q4G3 AMPQ_HUMAN NA NA integral component of membrane (GO:0016021) metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270) NA TTTTCAGCAATAAAATATCTG 0.363 NA T||| 636 0.126997 0.1445 0.0994 5008 , , NA 18734 0.1637 NA 0.0686 False NA ,,, NA NA NA 2504 0.1452 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant NA NA NA NA ENST00000357872.4:c.*1466T>G chr5.hg19:g.115363281T>G NA A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2 hg19 CCDS4124.1 0.02 2.027719 CAAxAAA COVERED NOVEL AQPEP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250852.1 0 3.610962 KEEP 0 0 0 12 382 TT 0.993634 0.993582 0 + 5 60 195 0 0 13.310998 93 60 3329 123 ENST00000357872.4 0.05102 0.999948 Unknown 0 __UNKNOWN__ __UNKNOWN__ 5 117114986 117114986 __UNKNOWN__ IGR SNP G G A rs4244392 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:117114986G>A NA NA LINC00992 (299923 upstream) : CTD-3179P9.1 (408175 downstream) NA NA NA AACTCATGCTGTCAATCCTTT 0.443 NA A||| 3891 0.776957 0.8434 0.7392 5008 , , NA 19717 0.9018 NA 0.5795 False NA ,,, NA NA NA 2504 0.7883 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr5.hg19:g.117114986G>A NA hg19 0.02 2.422471 GCTxTCA COVERED NOVEL 0 0 2.708558 KEEP 0 0 0 9 317 GG 0.99254 0.963578 0 27 60 989 0 0 95.830013 26 60 1009 78 0.509434 0.97082 DTWD2 285605 __UNKNOWN__ __UNKNOWN__ 5 118173366 118173366 __UNKNOWN__ 3'UTR SNP C C T rs571160118 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:118173366C>T ENST00000304058.4 - 0 4015 Q8NBA8 DTWD2_HUMAN DTW domain containing 2 NA NA breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4) 13 all_epithelial(76;0.0982)|Prostate(80;0.121) OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939) gaggccaaggcagaaggatcg 0.363 NA C||| 1 0.000199681 0.0 0.0 5008 , , NA 17617 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS34216.1 5q23.1 2008-02-05 ENSG00000169570 ENSG00000169570 285605 19334 protein-coding gene gene with protein product NA Standard NM_173666 NM_173666 NA Approved FLJ33977 uc003ksa.3 Q8NBA8 OTTHUMG00000162956 ENST00000304058.4:c.*3246G>A chr5.hg19:g.118173366C>T NA hg19 0.02 7.659464 AGGxAGA COVERED NOVEL DTWD2-004 PUTATIVE basic protein_coding NA protein_coding OTTHUMT00000371469.2 4 13.845206 KEEP 0 0 0 46 1637 CC 1 1 0 - 9 60 313 1 0 19.355732 207 60 7823 305 ENST00000304058.4 0.041667 1 DMXL1 1657 __UNKNOWN__ __UNKNOWN__ 5 118464075 118464075 __UNKNOWN__ Intron SNP C C T rs6880622 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:118464075C>T ENST00000311085.8 + 10 1182 DMXL1_ENST00000539542.1_Intron NM_005509.4 NP_005500.4 Q9Y485 DMXL1_HUMAN Dmx-like 1 NA NA breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1) 86 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) AGGGTTCTTCCGTTGAGCTAC 0.488 NA T||| 3129 0.6248 0.4508 0.6369 5008 , , NA 16976 0.9544 NA 0.496 False NA ,,, NA NA NA 2504 0.6442 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ005821 CCDS4125.1, CCDS75289.1 5q22 2013-01-10 ENSG00000172869 ENSG00000172869 1657 WD repeat domain containing 2937 protein-coding gene gene with protein product 605671 NA 10708522 Standard NM_005509 NM_005509 NA Approved uc003ksd.2 Q9Y485 OTTHUMG00000128898 ENST00000311085.8:c.1103-831C>T chr5.hg19:g.118464075C>T NA hg19 CCDS4125.1 0.02 -0.219307 TTCxGTT COVERED NOVEL DMXL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250862.1 0 2.406753 KEEP 0 0 0 8 269 CC 0.99257 0.54878 0 + 3 60 108 0 0 8.248466 22 60 743 38 ENST00000311085.8 0.12 0.552887 SNX24 28966 __UNKNOWN__ __UNKNOWN__ 5 122281721 122281721 __UNKNOWN__ Intron SNP C C T rs201442950 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:122281721C>T ENST00000261369.4 + 3 329 SNX24_ENST00000511211.1_Intron|SNX24_ENST00000506996.1_Intron|SNX24_ENST00000513881.1_Intron|SNX24_ENST00000395451.4_Intron NM_014035.2 NP_054754.1 Q9Y343 SNX24_HUMAN sorting nexin 24 NA NA protein transport (GO:0015031) cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020) phosphatidylinositol binding (GO:0035091) lung(5) 5 Prostate(80;0.0387) KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137) OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139) TTTTTTTTTTCTTTTTCTTTT 0.308 NA NA NA NA NA NA NA NA NA NA NA 0 16 18 17 NA NA 5 NA 122281721 2145 4287 6432 SO:0001627 intron_variant AF139461 CCDS4132.1 5q23.2 2008-03-11 2007-08-15 ENSG00000064652 ENSG00000064652 28966 Sorting nexins 21533 protein-coding gene gene with protein product NA 12461558 Standard NM_014035 NM_014035 NA Approved SBBI31 uc011cwo.2 Q9Y343 OTTHUMG00000128913 ENST00000261369.4:c.145-29C>T chr5.hg19:g.122281721C>T NA Q6UY33 hg19 CCDS4132.1 0.02 3.950608 TTTxTTT COVERED NOVEL SNX24-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250885.2 1 5.730348 KEEP 0 1 5 21 636 CC 0.999879 0.999877 0 + 25 60 418 0 0 27.653832 93 60 2466 158 ENST00000261369.4 0.211864 0.999998 PRDM6 93166 __UNKNOWN__ __UNKNOWN__ 5 122424883 122424883 __UNKNOWN__ 5'UTR SNP A A T rs72800823 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:122424883A>T ENST00000407847.4 + 0 68 AC106786.1_ENST00000442777.2_RNA|AC106786.1_ENST00000458103.2_RNA NM_001136239.1 NP_001129711.1 Q9NQX0 PRDM6_HUMAN PR domain containing 6 NA NA negative regulation of smooth muscle cell differentiation (GO:0051151)|negative regulation of transcription, DNA-templated (GO:0045892)|neurogenesis (GO:0022008)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676) NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 7 acacacacacacactcacTCT 0.552 NA a||| 2999 0.598842 0.4871 0.5692 5008 , , NA 10775 0.6994 NA 0.499 False NA ,,, NA NA NA 2504 0.7699 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF272898 CCDS47259.1 5q21-q23 2013-01-08 ENSG00000061455 ENSG00000061455 93166 Zinc fingers, C2H2-type 9350 protein-coding gene gene with protein product NA Standard XM_049619 NM_001136239 NA Approved uc003kti.3 Q9NQX0 OTTHUMG00000150469 ENST00000407847.4:c.-347A>T chr5.hg19:g.122424883A>T NA B5MCJ4|Q9NQW9 hg19 CCDS47259.1 0.02 -0.05262 CACxCAC UNCOVERED NOVEL PRDM6-001 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000318226.2 18 3.909391 KEEP 11 0 0 13 357 AA 0 0 0 + 3 60 112 0 0 10.826101 3 60 88 27 ENST00000407847.4 0.5 0.036766 PRDM6 93166 __UNKNOWN__ __UNKNOWN__ 5 122435627 122435627 __UNKNOWN__ Missense_Mutation SNP G G A rs1008058 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:122435627G>A ENST00000407847.4 + 3 1285 c.871G>A c.(871-873)Gcc>Acc p.A291T PRDM6_ENST00000464424.1_3'UTR NM_001136239.1 NP_001129711.1 Q9NQX0 PRDM6_HUMAN PR domain containing 6 291 SET. {ECO:0000255|PROSITE- ProRule:PRU00190}. NA negative regulation of smooth muscle cell differentiation (GO:0051151)|negative regulation of transcription, DNA-templated (GO:0045892)|neurogenesis (GO:0022008)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676) NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 7 GCAGGCAGGCGCCGTGAGGAA 0.672 NA G||| 927 0.185104 0.0643 0.2334 5008 , , NA 16270 0.3859 NA 0.1054 False NA ,,, NA NA NA 2504 0.1892 NA NA NA NA 0 G THR/ALA 84,1298 0,84,607 17 19 18 871 5.1 1 5 dbSNP_86 18 356,2826 17,322,1252 yes missense PRDM6 NM_001136239.1 58 17,406,1859 AA,AG,GG 11.1879,6.0781,9.6407 possibly-damaging 291/596 122435627 440,4124 691 1591 2282 SO:0001583 missense AF272898 CCDS47259.1 5q21-q23 2013-01-08 ENSG00000061455 ENSG00000061455 93166 Zinc fingers, C2H2-type 9350 protein-coding gene gene with protein product NA Standard XM_049619 NM_001136239 NA Approved uc003kti.3 Q9NQX0 OTTHUMG00000150469 ENST00000407847.4:c.871G>A chr5.hg19:g.122435627G>A ENSP00000384725:p.Ala291Thr NA B5MCJ4|Q9NQW9 hg19 CCDS47259.1 0.02 5.729495 GGCxCCG COVERED 435 0.19917582417582416 42 0.08536585365853659 64 0.17679558011049723 254 0.44405594405594406 75 0.09894459102902374 G 20.4 3.989064 0.74589 0.060781 0.111879 ENSG00000061455 ENST00000407847 T 0.72615 -0.67 5.91 5.05 0.67936 SET domain (3); 0.188519 0.44483 N 0.000459 T 0.00012 0.0000 L 0.39514 1.22 0.24453 P 0.99447099 B 0.29862 0.259 B 0.19946 0.027 T 0.33497 -0.9866 9 0.31617 T 0.26 -5.1987 14.9405 0.70989 0.0682:0.0:0.9318:0.0 rs1008058;rs1008058 291 Q9NQX0 PRDM6_HUMAN T 291 ENSP00000384725:A291T ENSP00000384725:A291T A + 1 0 PRDM6 122463526 0.906000 0.30813 1.000000 0.80357 0.997000 0.91878 2.842000 0.48230 1.518000 0.48934 0.655000 0.94253 GCC NOVEL PRDM6-001 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000318226.2 1 17.484206 KEEP 0 1 19 65 2221 GG 1 1 0 + 8 60 277 0 0 16.977939 190 60 6761 331 ENST00000407847.4 0.040404 1 CEP120 153241 __UNKNOWN__ __UNKNOWN__ 5 122739421 122739421 __UNKNOWN__ Intron SNP G G C rs7715577 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:122739421G>C ENST00000306467.5 - 5 768 CEP120_ENST00000306481.6_Intron|CEP120_ENST00000395431.2_Intron|CEP120_ENST00000328236.5_Intron Q8N960 CE120_HUMAN centrosomal protein 120kDa NA NA astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)|regulation of protein localization (GO:0032880) centrosome (GO:0005813)|cytoplasm (GO:0005737) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 29 cgtggcatctgttcgatgata 0.348 NA C||| 2294 0.458067 0.4599 0.4193 5008 , , NA 18998 0.506 NA 0.4453 False NA ,,, NA NA NA 2504 0.4468 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK095646 CCDS4134.2, CCDS54890.1 5q23.2 2014-02-20 2008-08-14 2008-08-14 ENSG00000168944 ENSG00000168944 153241 26690 protein-coding gene gene with protein product 613446 coiled-coil domain containing 100 CCDC100 NA 17920017 Standard NM_153223 NM_153223 NA Approved FLJ36090 uc003ktk.3 Q8N960 OTTHUMG00000128922 ENST00000306467.5:c.464-4443C>G chr5.hg19:g.122739421G>C NA Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8 hg19 CCDS4134.2 0.02 6.921987 TCTxTTC COVERED NOVEL CEP120-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250899.2 1 12.94289 KEEP 0 0 0 43 1582 GG 1 1 0 - 6 60 233 0 0 14.640713 181 60 6964 289 ENST00000306467.5 0.032086 1 CEP120 153241 __UNKNOWN__ __UNKNOWN__ 5 122754284 122754284 __UNKNOWN__ Intron SNP G G T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:122754284G>T ENST00000515110.1 - 3 484 CEP120_ENST00000306467.5_Intron|CEP120_ENST00000306481.6_Intron|CEP120_ENST00000395431.2_Intron|CEP120_ENST00000328236.5_Intron Q8N960 CE120_HUMAN centrosomal protein 120kDa NA NA astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)|regulation of protein localization (GO:0032880) centrosome (GO:0005813)|cytoplasm (GO:0005737) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 29 GTGtttttttgtttggctggt 0.403 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK095646 CCDS4134.2, CCDS54890.1 5q23.2 2014-02-20 2008-08-14 2008-08-14 ENSG00000168944 ENSG00000168944 153241 26690 protein-coding gene gene with protein product 613446 coiled-coil domain containing 100 CCDC100 NA 17920017 Standard NM_153223 NM_153223 NA Approved FLJ36090 uc003ktk.3 Q8N960 OTTHUMG00000128922 ENST00000515110.1:c.159-75C>A chr5.hg19:g.122754284G>T NA Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8 hg19 0.02 3.785187 TTTxTTT COVERED NOVEL CEP120-005 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000371246.2 1 7.574035 KEEP 0 1 7 28 831 GG 0.999997 0.999997 0 - 30 60 490 0 0 30.320515 131 60 3735 211 ENST00000515110.1 0.186335 1 CSNK1G3 1456 __UNKNOWN__ __UNKNOWN__ 5 122950330 122950330 __UNKNOWN__ 3'UTR SNP G G C rs3797534 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:122950330G>C ENST00000360683.2 + 0 1638 CSNK1G3_ENST00000361991.2_3'UTR|CSNK1G3_ENST00000521364.1_3'UTR|CSNK1G3_ENST00000345990.4_3'UTR|CSNK1G3_ENST00000395411.1_3'UTR|CSNK1G3_ENST00000510842.2_3'UTR|CSNK1G3_ENST00000395412.1_3'UTR NM_001044723.2 NP_001038188.1 Q9Y6M4 KC1G3_HUMAN casein kinase 1, gamma 3 NA NA cellular protein modification process (GO:0006464)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055) cytoplasm (GO:0005737) ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674) autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1) 15 all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245) KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229) OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176) TTGCCCATCAGTGAATGGAAT 0.328 NA G||| 2258 0.450879 0.2163 0.4899 5008 , , NA 17912 0.6736 NA 0.3837 False NA ,,, NA NA NA 2504 0.5798 NA NA NA Pancreas(187;2868 2964 4353 6297) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF049090 CCDS4135.1, CCDS34218.1, CCDS43355.1, CCDS59491.1, CCDS59492.1, CCDS59493.1 5q23 2013-01-17 ENSG00000151292 ENSG00000151292 1456 2456 protein-coding gene gene with protein product 604253 NA 9925945 Standard NM_004384 NM_004384 NA Approved uc031skv.1 Q9Y6M4 OTTHUMG00000128923 ENST00000360683.2:c.*240G>C chr5.hg19:g.122950330G>C NA A8K040|B4DSH2|B7Z9Q4|E7EVD0|Q86WZ7|Q9Y6M3 hg19 CCDS43355.1 0.02 8.311028 TCAxTGA COVERED NOVEL CSNK1G3-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000250901.2 2 13.544138 KEEP 0 0 0 45 1606 GG 1 1 0 + 8 60 301 0 0 18.63144 236 60 8856 341 ENST00000360683.2 0.032787 1 ALDH7A1 501 __UNKNOWN__ __UNKNOWN__ 5 125880109 125880109 __UNKNOWN__ 3'UTR SNP G G A rs1060856 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:125880109G>A ENST00000409134.3 - 0 2387 NM_001182.4|NM_001201377.1 NP_001173.2|NP_001188306.1 P49419 AL7A1_HUMAN aldehyde dehydrogenase 7 family, member A1 NA NA cellular aldehyde metabolic process (GO:0006081)|cellular nitrogen compound metabolic process (GO:0034641)|glycine betaine biosynthetic process from choline (GO:0019285)|lysine catabolic process (GO:0006554)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634) aldehyde dehydrogenase (NAD) activity (GO:0004029)|betaine-aldehyde dehydrogenase activity (GO:0008802)|L-aminoadipate-semialdehyde dehydrogenase activity (GO:0004043) endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 16 all_cancers(142;0.24)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934) Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109) TGTGATGAATGCCTGTTGTCA 0.458 NA OREG0016751 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) G||| 489 0.0976438 0.0061 0.0793 5008 , , NA 19544 0.12 NA 0.1541 False NA ,,, NA NA NA 2504 0.1534 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant S74728 CCDS4137.2, CCDS56380.1 5q31 2013-06-03 ENSG00000164904 ENSG00000164904 501 1.2.1.31 Aldehyde dehydrogenases 877 protein-coding gene gene with protein product antiquitin 1, 26g turgor protein homolog, alpha-aminoadipic semialdehyde dehydrogenase, alpha-AASA dehydrogenase, delta1-piperideine-6-carboxylate dehydrogenease, P6c dehydrogenase 107323 ATQ1 NA 9417906 Standard NM_001182 NM_001182 NA Approved EPD, PDE uc003ktx.3 P49419 OTTHUMG00000128942 ENST00000409134.3:c.*548C>T chr5.hg19:g.125880109G>A 1545 B2R669|B4DIC7|B4DMA0|E7EPT3|O14619|Q6IPU8|Q9BUL4 hg19 CCDS4137.2 0.02 9.729363 AATxCCT COVERED NOVEL ALDH7A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250921.2 0 24.679279 KEEP 0 0 0 82 2901 GG 1 1 0 - 10 60 344 0 0 20.18308 288 60 10857 465 ENST00000409134.3 0.033557 1 ALDH7A1 501 __UNKNOWN__ __UNKNOWN__ 5 125911132 125911132 __UNKNOWN__ Silent SNP G G A rs57902950 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:125911132G>A ENST00000409134.3 - 7 894 c.675C>T c.(673-675)ctC>ctT p.L225L ALDH7A1_ENST00000553117.1_Silent_p.L225L|ALDH7A1_ENST00000413020.1_5'UTR|ALDH7A1_ENST00000447989.2_Silent_p.L252L NM_001182.4|NM_001201377.1 NP_001173.2|NP_001188306.1 P49419 AL7A1_HUMAN aldehyde dehydrogenase 7 family, member A1 225 NA cellular aldehyde metabolic process (GO:0006081)|cellular nitrogen compound metabolic process (GO:0034641)|glycine betaine biosynthetic process from choline (GO:0019285)|lysine catabolic process (GO:0006554)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634) aldehyde dehydrogenase (NAD) activity (GO:0004029)|betaine-aldehyde dehydrogenase activity (GO:0008802)|L-aminoadipate-semialdehyde dehydrogenase activity (GO:0004043) endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 16 all_cancers(142;0.24)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934) Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109) CCACACTAATGAGGGAAGTGG 0.343 NA G||| 180 0.0359425 0.0711 0.0 5008 , , NA 19502 0.0565 NA 0.0 False NA ,,, NA NA NA 2504 0.0297 NA NA NA NA 0 G ,, 243,4163 140.4+/-175.9 8,227,1968 65 63 64 675,591,756 3.3 1 5 dbSNP_129 64 5,8595 5.0+/-18.6 0,5,4295 no coding-synonymous,coding-synonymous,coding-synonymous ALDH7A1 NM_001182.4,NM_001201377.1,NM_001202404.1 ,, 8,232,6263 AA,AG,GG 0.0581,5.5152,1.9068 ,, 225/540,197/512,252/503 125911132 248,12758 2203 4300 6503 SO:0001819 synonymous_variant S74728 CCDS4137.2, CCDS56380.1 5q31 2013-06-03 ENSG00000164904 ENSG00000164904 501 1.2.1.31 Aldehyde dehydrogenases 877 protein-coding gene gene with protein product antiquitin 1, 26g turgor protein homolog, alpha-aminoadipic semialdehyde dehydrogenase, alpha-AASA dehydrogenase, delta1-piperideine-6-carboxylate dehydrogenease, P6c dehydrogenase 107323 ATQ1 NA 9417906 Standard NM_001182 NM_001182 NA Approved EPD, PDE uc003ktx.3 P49419 OTTHUMG00000128942 ENST00000409134.3:c.675C>T chr5.hg19:g.125911132G>A NA B2R669|B4DIC7|B4DMA0|E7EPT3|O14619|Q6IPU8|Q9BUL4 hg19 CCDS4137.2 0.02 2.11749 AATxAGG COVERED NOVEL ALDH7A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250921.2 1 5.417632 KEEP 0 0 0 18 635 GG 0.999859 0.993563 0 - 5 60 186 0 0 13.331641 60 60 2306 100 ENST00000409134.3 0.076923 0.993703 PHAX 51808 __UNKNOWN__ __UNKNOWN__ 5 125936180 125936180 __UNKNOWN__ 5'UTR SNP C C T rs72789717 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:125936180C>T ENST00000297540.4 + 0 221 NM_032177.3 NP_115553.2 Q9H814 PHAX_HUMAN phosphorylated adaptor for RNA export NA NA gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|protein transport (GO:0015031)|RNA metabolic process (GO:0016070)|snRNA export from nucleus (GO:0006408)|spliceosomal snRNP assembly (GO:0000387) cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) RNA binding (GO:0003723)|toxic substance binding (GO:0015643) haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1) 8 ccacagataccaacatccgcc 0.552 NA C||| 346 0.0690895 0.0756 0.036 5008 , , NA 16704 0.1488 NA 0.0517 False NA ,,, NA NA NA 2504 0.0194 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AK023255 CCDS4138.1 5q23.2 2011-05-24 2008-10-01 2008-10-01 ENSG00000164902 ENSG00000164902 51808 10241 protein-coding gene gene with protein product 604924 RNA U, small nuclear RNA export adaptor (phosphorylation regulated) RNUXA NA 10786834 Standard NM_032177 NM_032177 NA Approved FLJ13193 uc003kua.2 Q9H814 OTTHUMG00000163273 ENST00000297540.4:c.-475C>T chr5.hg19:g.125936180C>T NA Q9H8W1 hg19 CCDS4138.1 0.02 6.9099 TACxAAC COVERED NOVEL PHAX-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250924.1 1 24.672527 KEEP 0 0 0 82 2830 CC 1 1 0 + 6 60 234 0 0 14.886054 171 60 6361 323 ENST00000297540.4 0.033898 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 5 125967404 125967404 __UNKNOWN__ IGR SNP T T A rs6862980 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:125967404T>A NA NA PHAX (4460 upstream) : C5orf48 (9 downstream) NA NA NA TTTAGATGAGTATTCCATCCA 0.388 NA A||| 1158 0.23123 0.5832 0.0893 5008 , , NA 21892 0.2073 NA 0.0606 False NA ,,, NA NA NA 2504 0.0562 NA NA NA NA 0 A 2162,2244 592.9+/-387.9 537,1088,578 143 126 132 1.4 1 5 dbSNP_116 132 477,8123 797.5+/-407.4 12,453,3835 no near-gene-5 549,1541,4413 AA,AT,TT 5.5465,49.0695,20.2906 125967404 2639,10367 2203 4300 6503 SO:0001628 intergenic_variant NA NA NA NA chr5.hg19:g.125967404T>A NA hg19 0.02 34.265407 GAGxATT COVERED NOVEL 0 1 18.052962 KEEP 0 0 0 60 1869 TT 1 1 0 42 60 1518 0 0 99.517735 795 60 28488 1082 0.050179 1 LMNB1 4001 __UNKNOWN__ __UNKNOWN__ 5 126171999 126171999 __UNKNOWN__ 3'UTR SNP T T C rs1051643 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:126171999T>C ENST00000261366.5 + 0 2165 LMNB1_ENST00000460265.1_3'UTR NM_001198557.1|NM_005573.3 NP_001185486.1|NP_005564.1 P20700 LMNB1_HUMAN lamin B1 NA NA apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921) lamin filament (GO:0005638)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654) structural molecule activity (GO:0005198) central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_cancers(142;0.103)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903) TATGGTAATCTTTACCTGTAT 0.353 NA C||| 3369 0.672724 0.6694 0.6715 5008 , , NA 16630 0.6627 NA 0.67 False NA ,,, NA NA NA 2504 0.6912 NA NA NA NA 0 C , 2942,1464 1006,930,267 80 84 83 , 4.6 1 5 dbSNP_86 83 5543,3053 1841,1861,596 no utr-3,utr-3 LMNB1 NM_001198557.1,NM_005573.3 , 2847,2791,863 CC,CT,TT 35.5165,33.2274,34.7408 , , 126171999 8485,4517 2203 4298 6501 SO:0001624 3_prime_UTR_variant L37737 CCDS4140.1 5q23.2 2013-01-16 ENSG00000113368 ENSG00000113368 4001 Intermediate filaments type V, lamins 6637 protein-coding gene gene with protein product 150340 NA 7557986, 8838815 Standard NM_005573 NM_005573 NA Approved uc003kud.2 P20700 OTTHUMG00000128969 ENST00000261366.5:c.*43T>C chr5.hg19:g.126171999T>C NA B2R6J6|Q3SYN7|Q96EI6 hg19 CCDS4140.1 0.02 27.179327 ATCxTTA COVERED NOVEL LMNB1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250956.2 3 12.974137 KEEP 0 1 31 54 1750 TT 1 1 0 + 18 60 698 0 0 43.729595 550 60 19899 697 ENST00000261366.5 0.03169 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 5 126847729 126847729 __UNKNOWN__ IGR SNP T T C rs182844 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:126847729T>C NA NA CTD-2195M15.3 (33300 upstream) : PRRC1 (5571 downstream) NA NA NA GGACGCCCACTCCAACCAGGA 0.542 NA C||| 2429 0.485024 0.6392 0.438 5008 , , NA 19918 0.626 NA 0.2336 False NA ,,, NA NA NA 2504 0.4233 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr5.hg19:g.126847729T>C NA hg19 0.02 2.271414 CACxCCA COVERED NOVEL 0 0 4.21278 KEEP 0 0 0 14 438 TT 0.995343 0.995238 0 11 60 396 0 0 30.181968 82 60 3028 130 0.11828 0.999895 PRRC1 133619 __UNKNOWN__ __UNKNOWN__ 5 126869270 126869270 __UNKNOWN__ Intron SNP T T G rs233039 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:126869270T>G ENST00000296666.8 + 6 945 PRRC1_ENST00000512635.2_Intron|PRRC1_ENST00000442138.2_Intron NM_130809.3 NP_570721.1 Q96M27 PRRC1_HUMAN proline-rich coiled-coil 1 NA NA Golgi apparatus (GO:0005794) endometrium(1)|large_intestine(1)|lung(4) 6 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113) TATGAGAATTTCATTATTTTA 0.279 NA T||| 1878 0.375 0.2723 0.4481 5008 , , NA 18828 0.5506 NA 0.2893 False NA ,,, NA NA NA 2504 0.3691 NA NA NA NA 0 T 1204,3194 185,834,1180 28 31 30 0.7 0 5 dbSNP_79 30 2634,5962 418,1798,2082 no intron PRRC1 NM_130809.3 603,2632,3262 GG,GT,TT 30.6422,27.3761,29.5367 126869270 3838,9156 2199 4298 6497 SO:0001627 intron_variant AJ515429 CCDS4143.1, CCDS68943.1 5q23.2 2008-02-05 ENSG00000164244 ENSG00000164244 133619 28164 protein-coding gene gene with protein product NA 15541471 Standard NM_130809 NM_130809 NA Approved FLJ32875 uc003kuk.3 Q96M27 OTTHUMG00000128982 ENST00000296666.8:c.758-45T>G chr5.hg19:g.126869270T>G NA Q69YM8|Q7L2U7|Q86Y42|Q8IVJ4|Q8IVL4|Q8NEZ7|Q96AJ3 hg19 CCDS4143.1 0.02 2.238505 ATTxCAT COVERED NOVEL PRRC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250971.3 0 3.006801 KEEP 0 0 0 10 271 TT 0.992708 0.990921 0 + 6 60 231 0 0 16.921535 68 60 2378 87 ENST00000296666.8 0.081081 0.9982 PRRC1 133619 __UNKNOWN__ __UNKNOWN__ 5 126884656 126884656 __UNKNOWN__ Intron SNP G G A rs444091 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:126884656G>A ENST00000296666.8 + 8 1316 PRRC1_ENST00000512635.2_Intron|PRRC1_ENST00000442138.2_3'UTR|PRRC1_ENST00000513427.1_Intron NM_130809.3 NP_570721.1 Q96M27 PRRC1_HUMAN proline-rich coiled-coil 1 NA NA Golgi apparatus (GO:0005794) endometrium(1)|large_intestine(1)|lung(4) 6 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113) tatgcatactgttatgccaat 0.284 NA G||| 1748 0.349042 0.1762 0.4452 5008 , , NA 17979 0.5516 NA 0.2873 False NA ,,, NA NA NA 2504 0.3691 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ515429 CCDS4143.1, CCDS68943.1 5q23.2 2008-02-05 ENSG00000164244 ENSG00000164244 133619 28164 protein-coding gene gene with protein product NA 15541471 Standard NM_130809 NM_130809 NA Approved FLJ32875 uc003kuk.3 Q96M27 OTTHUMG00000128982 ENST00000296666.8:c.1128+1043G>A chr5.hg19:g.126884656G>A NA Q69YM8|Q7L2U7|Q86Y42|Q8IVJ4|Q8IVL4|Q8NEZ7|Q96AJ3 hg19 CCDS4143.1 0.02 10.69416 ACTxTTA COVERED NOVEL PRRC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250971.3 2 7.760325 KEEP 0 1 32 37 1312 GG 1 1 0 + 13 60 464 0 0 30.288465 243 60 9253 358 ENST00000296666.8 0.050781 1 PRRC1 133619 __UNKNOWN__ __UNKNOWN__ 5 126885825 126885825 __UNKNOWN__ Intron SNP C C T rs452097 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:126885825C>T ENST00000296666.8 + 9 1316 PRRC1_ENST00000512635.2_Intron|PRRC1_ENST00000442138.2_3'UTR|PRRC1_ENST00000513427.1_Intron NM_130809.3 NP_570721.1 Q96M27 PRRC1_HUMAN proline-rich coiled-coil 1 NA NA Golgi apparatus (GO:0005794) endometrium(1)|large_intestine(1)|lung(4) 6 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113) aaagataacacagcaaactgt 0.313 NA C||| 1942 0.38778 0.3185 0.4524 5008 , , NA 16595 0.5506 NA 0.2893 False NA ,,, NA NA NA 2504 0.3691 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ515429 CCDS4143.1, CCDS68943.1 5q23.2 2008-02-05 ENSG00000164244 ENSG00000164244 133619 28164 protein-coding gene gene with protein product NA 15541471 Standard NM_130809 NM_130809 NA Approved FLJ32875 uc003kuk.3 Q96M27 OTTHUMG00000128982 ENST00000296666.8:c.1129-1574C>T chr5.hg19:g.126885825C>T NA Q69YM8|Q7L2U7|Q86Y42|Q8IVJ4|Q8IVL4|Q8NEZ7|Q96AJ3 hg19 CCDS4143.1 0.02 5.924183 ACAxAGC COVERED NOVEL PRRC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250971.3 1 12.037982 KEEP 0 0 0 40 1411 CC 1 1 0 + 6 60 217 0 0 13.043436 181 60 6859 274 ENST00000296666.8 0.032086 1 PRRC1 133619 __UNKNOWN__ __UNKNOWN__ 5 126887569 126887569 __UNKNOWN__ Silent SNP G G A rs7522 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:126887569G>A ENST00000296666.8 + 9 1487 c.1299G>A c.(1297-1299)gcG>gcA p.A433A PRRC1_ENST00000512635.2_Splice_Site_p.A433A|PRRC1_ENST00000442138.2_3'UTR|PRRC1_ENST00000513427.1_3'UTR NM_130809.3 NP_570721.1 Q96M27 PRRC1_HUMAN proline-rich coiled-coil 1 433 NA Golgi apparatus (GO:0005794) endometrium(1)|large_intestine(1)|lung(4) 6 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113) GAGCGATAGCGGGCATGTATA 0.512 NA A||| 1942 0.38778 0.3185 0.4524 5008 , , NA 17375 0.5506 NA 0.2893 False NA ,,, NA NA NA 2504 0.3691 NA NA NA NA 0 A 1346,3060 693.9+/-405.7 214,918,1071 84 85 85 1299 -10.7 0 5 dbSNP_52 85 2637,5963 686.7+/-404.1 419,1799,2082 no coding-synonymous PRRC1 NM_130809.3 633,2717,3153 AA,AG,GG 30.6628,30.5493,30.6243 433/446 126887569 3983,9023 2203 4300 6503 SO:0001819 synonymous_variant AJ515429 CCDS4143.1, CCDS68943.1 5q23.2 2008-02-05 ENSG00000164244 ENSG00000164244 133619 28164 protein-coding gene gene with protein product NA 15541471 Standard NM_130809 NM_130809 NA Approved FLJ32875 uc003kuk.3 Q96M27 OTTHUMG00000128982 ENST00000296666.8:c.1299G>A chr5.hg19:g.126887569G>A NA Q69YM8|Q7L2U7|Q86Y42|Q8IVJ4|Q8IVL4|Q8NEZ7|Q96AJ3 hg19 CCDS4143.1 0.02 16.176547 AGCxGGC COVERED NOVEL PRRC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250971.3 3 15.414931 KEEP 0 2 53 70 2370 GG 1 1 0 + 18 60 678 0 0 45.162803 351 60 12559 525 ENST00000296666.8 0.04878 1 PRRC1 133619 __UNKNOWN__ __UNKNOWN__ 5 126888369 126888369 __UNKNOWN__ 3'UTR SNP A A G rs366515 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:126888369A>G ENST00000296666.8 + 0 2287 PRRC1_ENST00000512635.2_Intron NM_130809.3 NP_570721.1 Q96M27 PRRC1_HUMAN proline-rich coiled-coil 1 NA NA Golgi apparatus (GO:0005794) endometrium(1)|large_intestine(1)|lung(4) 6 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113) AAGTATTCAAATTATTTTTGT 0.294 NA G||| 1942 0.38778 0.3185 0.4524 5008 , , NA 16236 0.5506 NA 0.2893 False NA ,,, NA NA NA 2504 0.3691 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ515429 CCDS4143.1, CCDS68943.1 5q23.2 2008-02-05 ENSG00000164244 ENSG00000164244 133619 28164 protein-coding gene gene with protein product NA 15541471 Standard NM_130809 NM_130809 NA Approved FLJ32875 uc003kuk.3 Q96M27 OTTHUMG00000128982 ENST00000296666.8:c.*761A>G chr5.hg19:g.126888369A>G NA Q69YM8|Q7L2U7|Q86Y42|Q8IVJ4|Q8IVL4|Q8NEZ7|Q96AJ3 hg19 CCDS4143.1 0.02 11.59566 CAAxTTA COVERED NOVEL PRRC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250971.3 2 11.735439 KEEP 0 0 0 39 1235 AA 1 1 0 + 19 60 731 0 0 52.412344 248 60 8963 358 ENST00000296666.8 0.071161 1 PRRC1 133619 __UNKNOWN__ __UNKNOWN__ 5 126888773 126888773 __UNKNOWN__ 3'UTR SNP A A G rs425532 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:126888773A>G ENST00000296666.8 + 0 2691 PRRC1_ENST00000512635.2_Intron NM_130809.3 NP_570721.1 Q96M27 PRRC1_HUMAN proline-rich coiled-coil 1 NA NA Golgi apparatus (GO:0005794) endometrium(1)|large_intestine(1)|lung(4) 6 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113) TACAAGTTCAAATAACTTTTT 0.219 NA A||| 1942 0.38778 0.3185 0.4524 5008 , , NA 13276 0.5506 NA 0.2893 False NA ,,, NA NA NA 2504 0.3691 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ515429 CCDS4143.1, CCDS68943.1 5q23.2 2008-02-05 ENSG00000164244 ENSG00000164244 133619 28164 protein-coding gene gene with protein product NA 15541471 Standard NM_130809 NM_130809 NA Approved FLJ32875 uc003kuk.3 Q96M27 OTTHUMG00000128982 ENST00000296666.8:c.*1165A>G chr5.hg19:g.126888773A>G NA Q69YM8|Q7L2U7|Q86Y42|Q8IVJ4|Q8IVL4|Q8NEZ7|Q96AJ3 hg19 CCDS4143.1 0.02 2.035278 TCAxATA COVERED NOVEL PRRC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250971.3 1 3.611197 KEEP 0 0 0 12 392 AA 0.993634 0.985778 0 + 4 60 150 0 0 10.439953 59 60 2094 77 ENST00000296666.8 0.063492 0.992094 PRRC1 133619 __UNKNOWN__ __UNKNOWN__ 5 126888852 126888852 __UNKNOWN__ 3'UTR SNP A A G rs410877 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:126888852A>G ENST00000296666.8 + 0 2770 PRRC1_ENST00000512635.2_Intron NM_130809.3 NP_570721.1 Q96M27 PRRC1_HUMAN proline-rich coiled-coil 1 NA NA Golgi apparatus (GO:0005794) endometrium(1)|large_intestine(1)|lung(4) 6 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113) TAGATGTAAAAGAATTAGCAC 0.299 NA A||| 1942 0.38778 0.3185 0.4524 5008 , , NA 13341 0.5506 NA 0.2893 False NA ,,, NA NA NA 2504 0.3691 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ515429 CCDS4143.1, CCDS68943.1 5q23.2 2008-02-05 ENSG00000164244 ENSG00000164244 133619 28164 protein-coding gene gene with protein product NA 15541471 Standard NM_130809 NM_130809 NA Approved FLJ32875 uc003kuk.3 Q96M27 OTTHUMG00000128982 ENST00000296666.8:c.*1244A>G chr5.hg19:g.126888852A>G NA Q69YM8|Q7L2U7|Q86Y42|Q8IVJ4|Q8IVL4|Q8NEZ7|Q96AJ3 hg19 CCDS4143.1 0.02 4.590664 AAAxGAA COVERED NOVEL PRRC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250971.3 1 7.960905 KEEP 0 1 36 39 1282 AA 1 1 0 + 7 60 270 0 0 18.38604 128 60 4605 215 ENST00000296666.8 0.051852 1 PRRC1 133619 __UNKNOWN__ __UNKNOWN__ 5 126889181 126889181 __UNKNOWN__ 3'UTR SNP T T C rs397415 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:126889181T>C ENST00000296666.8 + 0 3099 PRRC1_ENST00000512635.2_Intron NM_130809.3 NP_570721.1 Q96M27 PRRC1_HUMAN proline-rich coiled-coil 1 NA NA Golgi apparatus (GO:0005794) endometrium(1)|large_intestine(1)|lung(4) 6 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113) ACTTTCTTTCTTTCCTTCAAG 0.383 NA C||| 1942 0.38778 0.3185 0.4524 5008 , , NA 16840 0.5506 NA 0.2893 False NA ,,, NA NA NA 2504 0.3691 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ515429 CCDS4143.1, CCDS68943.1 5q23.2 2008-02-05 ENSG00000164244 ENSG00000164244 133619 28164 protein-coding gene gene with protein product NA 15541471 Standard NM_130809 NM_130809 NA Approved FLJ32875 uc003kuk.3 Q96M27 OTTHUMG00000128982 ENST00000296666.8:c.*1573T>C chr5.hg19:g.126889181T>C NA Q69YM8|Q7L2U7|Q86Y42|Q8IVJ4|Q8IVL4|Q8NEZ7|Q96AJ3 hg19 CCDS4143.1 0.02 7.20108 TTCxTTC COVERED NOVEL PRRC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250971.3 0 8.425024 KEEP 0 0 0 28 887 TT 0.999997 0.999997 0 + 12 60 452 0 0 31.844711 166 60 6192 249 ENST00000296666.8 0.067416 1 PRRC1 133619 __UNKNOWN__ __UNKNOWN__ 5 126889370 126889370 __UNKNOWN__ 3'UTR SNP C C T rs435795 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:126889370C>T ENST00000296666.8 + 0 3288 PRRC1_ENST00000512635.2_Intron NM_130809.3 NP_570721.1 Q96M27 PRRC1_HUMAN proline-rich coiled-coil 1 NA NA Golgi apparatus (GO:0005794) endometrium(1)|large_intestine(1)|lung(4) 6 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113) ATAAGGAAATCTTACAGATTC 0.308 NA T||| 2650 0.529153 0.6778 0.5086 5008 , , NA 18326 0.627 NA 0.333 False NA ,,, NA NA NA 2504 0.4438 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ515429 CCDS4143.1, CCDS68943.1 5q23.2 2008-02-05 ENSG00000164244 ENSG00000164244 133619 28164 protein-coding gene gene with protein product NA 15541471 Standard NM_130809 NM_130809 NA Approved FLJ32875 uc003kuk.3 Q96M27 OTTHUMG00000128982 ENST00000296666.8:c.*1762C>T chr5.hg19:g.126889370C>T NA Q69YM8|Q7L2U7|Q86Y42|Q8IVJ4|Q8IVL4|Q8NEZ7|Q96AJ3 hg19 CCDS4143.1 0.02 3.631829 AATxTTA COVERED NOVEL PRRC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250971.3 2 2.708455 KEEP 0 0 0 9 306 CC 0.99254 0.99254 0 + 11 60 364 0 0 24.984726 131 60 4841 162 ENST00000296666.8 0.077465 1 PRRC1 133619 __UNKNOWN__ __UNKNOWN__ 5 126889640 126889640 __UNKNOWN__ 3'UTR SNP A A G rs418657 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:126889640A>G ENST00000296666.8 + 0 3558 PRRC1_ENST00000512635.2_3'UTR NM_130809.3 NP_570721.1 Q96M27 PRRC1_HUMAN proline-rich coiled-coil 1 NA NA Golgi apparatus (GO:0005794) endometrium(1)|large_intestine(1)|lung(4) 6 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113) TGGAAGAGAGAAATACATGAA 0.507 NA A||| 1943 0.387979 0.3192 0.4524 5008 , , NA 19478 0.5506 NA 0.2893 False NA ,,, NA NA NA 2504 0.3691 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ515429 CCDS4143.1, CCDS68943.1 5q23.2 2008-02-05 ENSG00000164244 ENSG00000164244 133619 28164 protein-coding gene gene with protein product NA 15541471 Standard NM_130809 NM_130809 NA Approved FLJ32875 uc003kuk.3 Q96M27 OTTHUMG00000128982 ENST00000296666.8:c.*2032A>G chr5.hg19:g.126889640A>G NA Q69YM8|Q7L2U7|Q86Y42|Q8IVJ4|Q8IVL4|Q8NEZ7|Q96AJ3 hg19 CCDS4143.1 0.02 15.217075 GAGxAAT COVERED NOVEL PRRC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250971.3 1 17.450509 KEEP 0 0 0 58 1792 AA 1 1 0 + 13 60 458 0 0 27.62146 363 60 13131 522 ENST00000296666.8 0.034574 1 PRRC1 133619 __UNKNOWN__ __UNKNOWN__ 5 126889986 126889986 __UNKNOWN__ 3'UTR SNP A A G rs432672 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:126889986A>G ENST00000296666.8 + 0 3904 PRRC1_ENST00000512635.2_3'UTR NM_130809.3 NP_570721.1 Q96M27 PRRC1_HUMAN proline-rich coiled-coil 1 NA NA Golgi apparatus (GO:0005794) endometrium(1)|large_intestine(1)|lung(4) 6 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113) GGAGAGTGCTATTTGCTTTTG 0.443 NA A||| 1943 0.387979 0.3192 0.4524 5008 , , NA 18901 0.5506 NA 0.2893 False NA ,,, NA NA NA 2504 0.3691 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ515429 CCDS4143.1, CCDS68943.1 5q23.2 2008-02-05 ENSG00000164244 ENSG00000164244 133619 28164 protein-coding gene gene with protein product NA 15541471 Standard NM_130809 NM_130809 NA Approved FLJ32875 uc003kuk.3 Q96M27 OTTHUMG00000128982 ENST00000296666.8:c.*2378A>G chr5.hg19:g.126889986A>G NA Q69YM8|Q7L2U7|Q86Y42|Q8IVJ4|Q8IVL4|Q8NEZ7|Q96AJ3 hg19 CCDS4143.1 0.02 12.165472 GCTxTTT COVERED NOVEL PRRC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250971.3 2 14.742095 KEEP 0 0 0 49 1478 AA 1 1 0 + 14 60 526 0 0 35.659365 244 60 8729 369 ENST00000296666.8 0.054264 1 PRRC1 133619 __UNKNOWN__ __UNKNOWN__ 5 126890472 126890472 __UNKNOWN__ 3'UTR SNP C C T rs441265 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:126890472C>T ENST00000296666.8 + 0 4390 PRRC1_ENST00000512635.2_3'UTR NM_130809.3 NP_570721.1 Q96M27 PRRC1_HUMAN proline-rich coiled-coil 1 NA NA Golgi apparatus (GO:0005794) endometrium(1)|large_intestine(1)|lung(4) 6 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113) GTGTTATATACATCCATTCAA 0.289 NA C||| 1823 0.364018 0.27 0.438 5008 , , NA 17395 0.5506 NA 0.2714 False NA ,,, NA NA NA 2504 0.3415 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ515429 CCDS4143.1, CCDS68943.1 5q23.2 2008-02-05 ENSG00000164244 ENSG00000164244 133619 28164 protein-coding gene gene with protein product NA 15541471 Standard NM_130809 NM_130809 NA Approved FLJ32875 uc003kuk.3 Q96M27 OTTHUMG00000128982 ENST00000296666.8:c.*2864C>T chr5.hg19:g.126890472C>T NA Q69YM8|Q7L2U7|Q86Y42|Q8IVJ4|Q8IVL4|Q8NEZ7|Q96AJ3 hg19 CCDS4143.1 0.02 8.536151 ATAxATC COVERED NOVEL PRRC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250971.3 1 9.329881 KEEP 0 0 0 31 1078 CC 0.999997 0.999997 0 + 8 60 287 0 0 17.816838 199 60 7493 273 ENST00000296666.8 0.038647 1 PRRC1 133619 __UNKNOWN__ __UNKNOWN__ 5 126890541 126890541 __UNKNOWN__ 3'UTR SNP T T C rs384556 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:126890541T>C ENST00000296666.8 + 0 4459 PRRC1_ENST00000512635.2_3'UTR NM_130809.3 NP_570721.1 Q96M27 PRRC1_HUMAN proline-rich coiled-coil 1 NA NA Golgi apparatus (GO:0005794) endometrium(1)|large_intestine(1)|lung(4) 6 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113) TGCTGTTGAATCTACTCTGTT 0.299 NA T||| 1823 0.364018 0.27 0.438 5008 , , NA 17206 0.5506 NA 0.2714 False NA ,,, NA NA NA 2504 0.3415 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ515429 CCDS4143.1, CCDS68943.1 5q23.2 2008-02-05 ENSG00000164244 ENSG00000164244 133619 28164 protein-coding gene gene with protein product NA 15541471 Standard NM_130809 NM_130809 NA Approved FLJ32875 uc003kuk.3 Q96M27 OTTHUMG00000128982 ENST00000296666.8:c.*2933T>C chr5.hg19:g.126890541T>C NA Q69YM8|Q7L2U7|Q86Y42|Q8IVJ4|Q8IVL4|Q8NEZ7|Q96AJ3 hg19 CCDS4143.1 0.02 8.651654 GAAxCTA COVERED NOVEL PRRC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250971.3 3 10.532021 KEEP 0 0 0 35 1114 TT 0.999999 0.999999 0 + 11 60 391 0 0 25.217916 217 60 7916 316 ENST00000296666.8 0.048246 1 CTXN3 613212 __UNKNOWN__ __UNKNOWN__ 5 126993838 126993838 __UNKNOWN__ 3'UTR SNP A A G rs248708 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:126993838A>G ENST00000379445.3 + 0 1176 CTXN3_ENST00000395322.3_3'UTR|CTC-548H10.2_ENST00000512352.1_RNA NM_001048252.2 NP_001041717.1 Q4LDR2 CTXN3_HUMAN cortexin 3 NA NA integral component of membrane (GO:0016021) endometrium(1)|large_intestine(2)|lung(1) 4 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.0128)|COAD - Colon adenocarcinoma(49;0.0234)|OV - Ovarian serous cystadenocarcinoma(64;0.038) AAGGCCAGGAAGAGATTTCCT 0.388 NA A||| 1538 0.307109 0.3502 0.2824 5008 , , NA 18088 0.248 NA 0.4026 False NA ,,, NA NA NA 2504 0.229 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB219764 CCDS34221.1 5q23.2 2006-09-21 ENSG00000205279 613212 31110 protein-coding gene gene with protein product NA Standard XM_932841 NM_001048252 NA Approved uc003kum.4 Q4LDR2 ENST00000379445.3:c.*379A>G chr5.hg19:g.126993838A>G NA B2RV32|D3DQ82 hg19 CCDS34221.1 0.02 8.877522 GGAxGAG COVERED NOVEL CTXN3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000372467.1 2 8.726046 KEEP 0 0 0 29 900 AA 0.999997 0.999997 0 + 10 60 362 0 0 23.214776 215 60 7906 284 ENST00000379445.3 0.044444 1 FBN2 2201 __UNKNOWN__ __UNKNOWN__ 5 127622491 127622491 __UNKNOWN__ Missense_Mutation SNP T T C rs32209 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:127622491T>C ENST00000508053.1 - 61 7905 c.6931A>G c.(6931-6933)Atg>Gtg p.M2311V FBN2_ENST00000262464.4_Missense_Mutation_p.M2311V P35556 FBN2_HUMAN fibrillin 2 2311 EGF-like 39; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}. NA M -> V (in dbSNP:rs32209). anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583) extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578) calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) TTCTTACACATCATGCCCCTA 0.448 NA T||| 1166 0.232827 0.2511 0.0648 5008 , , NA 20513 0.5873 NA 0.0417 False NA ,,, NA NA NA 2504 0.1585 NA NA NA NA 0 T VAL/MET 914,3492 351.3+/-311.2 98,718,1387 141 124 130 6931 5.3 1 5 dbSNP_76 130 358,8242 119.9+/-179.2 7,344,3949 yes missense FBN2 NM_001999.3 21 105,1062,5336 CC,CT,TT 4.1628,20.7444,9.7801 benign 2311/2913 127622491 1272,11734 2203 4300 6503 SO:0001583 missense U03272 CCDS34222.1 5q23-q31 2008-08-01 2008-08-01 ENSG00000138829 2201 3604 protein-coding gene gene with protein product fibrillin 5 612570 congenital contractural arachnodactyly CCA NA 1852206, 8120105 Standard NM_001999 NM_001999 NA Approved DA9 uc003kuu.3 P35556 ENST00000508053.1:c.6931A>G chr5.hg19:g.127622491T>C ENSP00000424571:p.Met2311Val NA B4DU01|Q59ES6 hg19 CCDS34222.1 0.02 8.419191 ACAxCAT COVERED 522 0.23901098901098902 114 0.23170731707317074 23 0.06353591160220995 349 0.6101398601398601 36 0.047493403693931395 T 11.77 1.738740 0.30774 0.207444 0.041628 ENSG00000138829 ENST00000262464;ENST00000508053 D;D 0.86694 -2.16;-2.16 5.34 5.34 0.76211 EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1); 0.065955 0.64402 D 0.000005 T 0.00012 0.0000 N 0.01576 -0.805 0.28809 P 0.898348 B 0.02656 0.0 B 0.04013 0.001 T 0.39921 -0.9590 9 0.28530 T 0.3 . 10.1516 0.42796 0.0:0.0741:0.0:0.9259 rs32209;rs1617952;rs17697639;rs52791218;rs60140231;rs32209 2311 P35556 FBN2_HUMAN V 2311 ENSP00000262464:M2311V;ENSP00000424571:M2311V ENSP00000262464:M2311V M - 1 0 FBN2 127650390 1.000000 0.71417 1.000000 0.80357 0.934000 0.57294 2.147000 0.42226 2.367000 0.80283 0.528000 0.53228 ATG NOVEL FBN2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000371618.2 0 9.630009 KEEP 0 0 0 32 1038 TT 0.999997 0.999997 0 - 7 60 258 0 0 15.847649 201 60 7343 310 ENST00000508053.1 0.033654 1 FBN2 2201 __UNKNOWN__ __UNKNOWN__ 5 127623170 127623170 __UNKNOWN__ Intron SNP A A G rs42688 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:127623170A>G ENST00000508053.1 - 60 7732 FBN2_ENST00000262464.4_Intron P35556 FBN2_HUMAN fibrillin 2 NA NA anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583) extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578) calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) AGTTCTAATTATTTGTGTAAC 0.413 NA A||| 1167 0.233027 0.2511 0.0663 5008 , , NA 19442 0.5873 NA 0.0417 False NA ,,, NA NA NA 2504 0.1585 NA NA NA NA 0 A 915,3491 351.3+/-311.2 98,719,1386 56 53 54 -3.7 0 5 dbSNP_76 54 359,8241 120.1+/-179.3 7,345,3948 no intron FBN2 NM_001999.3 105,1064,5334 GG,GA,AA 4.1744,20.7671,9.7955 127623170 1274,11732 2203 4300 6503 SO:0001627 intron_variant U03272 CCDS34222.1 5q23-q31 2008-08-01 2008-08-01 ENSG00000138829 2201 3604 protein-coding gene gene with protein product fibrillin 5 612570 congenital contractural arachnodactyly CCA NA 1852206, 8120105 Standard NM_001999 NM_001999 NA Approved DA9 uc003kuu.3 P35556 ENST00000508053.1:c.6758-48T>C chr5.hg19:g.127623170A>G NA B4DU01|Q59ES6 hg19 CCDS34222.1 0.02 4.431595 ATTxTTT COVERED NOVEL FBN2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000371618.2 1 3.0089 KEEP 0 0 0 10 303 AA 0.992708 0.992706 0 - 6 60 220 0 0 14.543331 113 60 4175 143 ENST00000508053.1 0.05042 0.999998 ADAMTS19 171019 __UNKNOWN__ __UNKNOWN__ 5 129037040 129037040 __UNKNOWN__ Intron SNP A A T rs77023351 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:129037040A>T ENST00000274487.4 + 20 3081 ADAMTS19_ENST00000509467.1_Intron|CTC-575N7.1_ENST00000503616.1_RNA NM_133638.3 NP_598377.3 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 19 NA NA proteinaceous extracellular matrix (GO:0005578) metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270) NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) GTAGATAGGTATCTTTTAACT 0.408 NA A||| 75 0.014976 0.0159 0.0014 5008 , , NA 21876 0.0526 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 A 73,4333 65.3+/-102.7 0,73,2130 55 56 56 0.1 0 5 dbSNP_131 56 9,8591 7.1+/-27.0 0,9,4291 no intron ADAMTS19 NM_133638.3 0,82,6421 TT,TA,AA 0.1047,1.6568,0.6305 129037040 82,12924 2203 4300 6503 SO:0001627 intron_variant AJ311904 CCDS4146.1 5q23.3 2009-04-27 2005-08-19 ENSG00000145808 ENSG00000145808 171019 ADAM metallopeptidases with thrombospondin type 1 motif 17111 protein-coding gene gene with protein product 607513 a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19 NA 11867212 Standard NM_133638 NM_133638 NA Approved uc003kvb.1 Q8TE59 OTTHUMG00000128990 ENST00000274487.4:c.2937-41A>T chr5.hg19:g.129037040A>T NA hg19 CCDS4146.1 0.02 8.367457 GGTxTCT COVERED NOVEL ADAMTS19-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250979.2 0 8.721307 KEEP 0 0 0 29 848 AA 0.999997 0.999997 0 + 10 60 329 0 0 20.14631 205 60 7229 283 ENST00000274487.4 0.046512 1 RAPGEF6 51735 __UNKNOWN__ __UNKNOWN__ 5 130761470 130761470 __UNKNOWN__ 3'UTR SNP G G A rs4996522 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:130761470G>A ENST00000509018.1 - 0 6500 RAPGEF6_ENST00000307984.5_3'UTR NM_001164386.1|NM_016340.5 NP_001157858.1|NP_057424.3 Q8TEU7 RPGF6_HUMAN Rap guanine nucleotide exchange factor (GEF) 6 NA NA positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056) cytoplasm (GO:0005737)|plasma membrane (GO:0005886) GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1) 31 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0721) TTTCTATAAAGGAGGCCACAA 0.418 NA G||| 1487 0.296925 0.2005 0.3228 5008 , , NA 14020 0.5089 NA 0.2276 False NA ,,, NA NA NA 2504 0.2618 NA NA NA Melanoma(168;435 1955 13113 13877 23213) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF117947 CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1 5q31.1 2008-02-05 2004-03-01 2004-03-02 ENSG00000158987 ENSG00000158987 51735 20655 protein-coding gene gene with protein product 610499 PDZ domain containing guanine nucleotide exchange factor (GEF) 2 PDZGEF2 NA 11524421, 12095257 Standard NM_016340 NM_016340 NA Approved RA-GEF-2, PDZ-GEF2 uc010jdi.2 Q8TEU7 OTTHUMG00000162683 ENST00000509018.1:c.*1489C>T chr5.hg19:g.130761470G>A NA A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1 hg19 CCDS34225.1 0.02 11.105332 AAAxGAG COVERED NOVEL RAPGEF6-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000370059.1 4 15.350517 KEEP 0 0 0 51 1866 GG 1 1 0 - 13 60 481 0 0 31.762639 253 60 9543 384 ENST00000509018.1 0.048872 1 RAPGEF6 51735 __UNKNOWN__ __UNKNOWN__ 5 130776053 130776053 __UNKNOWN__ Intron SNP C C A rs1422081 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:130776053C>A ENST00000507093.1 - 25 3816 RAPGEF6_ENST00000307984.5_Intron|RAPGEF6_ENST00000512052.1_Intron|RAPGEF6_ENST00000296859.6_Intron|CTC-432M15.3_ENST00000514667.1_Intron|RAPGEF6_ENST00000308008.6_Intron|RAPGEF6_ENST00000509018.1_Intron NM_001164388.1 NP_001157860.1 Q8TEU7 RPGF6_HUMAN Rap guanine nucleotide exchange factor (GEF) 6 NA NA positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056) cytoplasm (GO:0005737)|plasma membrane (GO:0005886) GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1) 31 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0721) GTACCTCAAACTTAGCAATGC 0.358 NA C||| 1471 0.29373 0.1853 0.3242 5008 , , NA 23141 0.5169 NA 0.2247 False NA ,,, NA NA NA 2504 0.2597 NA NA NA Melanoma(168;435 1955 13113 13877 23213) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF117947 CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1 5q31.1 2008-02-05 2004-03-01 2004-03-02 ENSG00000158987 ENSG00000158987 51735 20655 protein-coding gene gene with protein product 610499 PDZ domain containing guanine nucleotide exchange factor (GEF) 2 PDZGEF2 NA 11524421, 12095257 Standard NM_016340 NM_016340 NA Approved RA-GEF-2, PDZ-GEF2 uc010jdi.2 Q8TEU7 OTTHUMG00000162683 ENST00000507093.1:c.3635-645G>T chr5.hg19:g.130776053C>A NA A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1 hg19 CCDS54899.1 0.02 4.449 AAAxTTA COVERED NOVEL RAPGEF6-003 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000370061.1 0 2.407929 KEEP 0 0 0 8 288 CC 0.99257 0.992568 0 - 6 60 224 0 0 14.98774 111 60 4183 142 ENST00000507093.1 0.051282 0.999998 RAPGEF6 51735 __UNKNOWN__ __UNKNOWN__ 5 130788698 130788698 __UNKNOWN__ Intron SNP C C T rs10054168 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:130788698C>T ENST00000507093.1 - 21 3382 RAPGEF6_ENST00000307984.5_Intron|RAPGEF6_ENST00000512052.1_Intron|RAPGEF6_ENST00000296859.6_Intron|CTC-432M15.3_ENST00000514667.1_Intron|RAPGEF6_ENST00000308008.6_Intron|RAPGEF6_ENST00000509018.1_Intron NM_001164388.1 NP_001157860.1 Q8TEU7 RPGF6_HUMAN Rap guanine nucleotide exchange factor (GEF) 6 NA NA positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056) cytoplasm (GO:0005737)|plasma membrane (GO:0005886) GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1) 31 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0721) TTAATTATTACATCACCCTTG 0.323 NA T||| 2016 0.402556 0.5257 0.389 5008 , , NA 16368 0.5169 NA 0.2594 False NA ,,, NA NA NA 2504 0.2751 NA NA NA Melanoma(168;435 1955 13113 13877 23213) NA 0 T ,,,, 2225,2181 579.6+/-385.0 556,1113,534 51 58 55 ,,,, 1.8 0 5 dbSNP_119 55 1950,6650 722.3+/-406.4 224,1502,2574 no intron,intron,intron,intron,intron RAPGEF6 NM_001164386.1,NM_001164387.1,NM_001164388.1,NM_001164389.1,NM_016340.5 ,,,, 780,2615,3108 TT,TC,CC 22.6744,49.5007,32.1006 ,,,, ,,,, 130788698 4175,8831 2203 4300 6503 SO:0001627 intron_variant AF117947 CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1 5q31.1 2008-02-05 2004-03-01 2004-03-02 ENSG00000158987 ENSG00000158987 51735 20655 protein-coding gene gene with protein product 610499 PDZ domain containing guanine nucleotide exchange factor (GEF) 2 PDZGEF2 NA 11524421, 12095257 Standard NM_016340 NM_016340 NA Approved RA-GEF-2, PDZ-GEF2 uc010jdi.2 Q8TEU7 OTTHUMG00000162683 ENST00000507093.1:c.3200+48G>A chr5.hg19:g.130788698C>T NA A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1 hg19 CCDS54899.1 0.02 12.240402 TTAxATC COVERED NOVEL RAPGEF6-003 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000370061.1 0 7.960849 KEEP 0 1 33 38 1324 CC 1 1 0 - 13 60 457 0 0 28.357717 304 60 11307 406 ENST00000507093.1 0.041009 1 ACSL6 23305 __UNKNOWN__ __UNKNOWN__ 5 131283376 131283376 __UNKNOWN__ Intron SNP C C T rs683749 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:131283376C>T ENST00000379249.3 - 21 2100 AC034228.4_ENST00000446275.1_RNA Q9UKU0 ACSL6_HUMAN acyl-CoA synthetase long-chain family member 6 NA NA acyl-CoA metabolic process (GO:0006637)|cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|fatty acid transport (GO:0015908)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|phospholipid biosynthetic process (GO:0008654)|positive regulation of neuron projection development (GO:0010976)|positive regulation of plasma membrane long-chain fatty acid transport (GO:0010747)|positive regulation of triglyceride biosynthetic process (GO:0010867)|response to gravity (GO:0009629)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|peroxisome (GO:0005777)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|enzyme binding (GO:0019899)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein homodimerization activity (GO:0042803) NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 35 all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) agaagtgaatcagaaatggtc 0.388 NA C||| 1434 0.286342 0.1755 0.3242 5008 , , NA 18955 0.501 NA 0.2157 False NA ,,, NA NA NA 2504 0.2607 NA NA NA NA 0 C 308,1442 32,244,599 22 21 21 1.6 0 5 dbSNP_83 21 776,3206 73,630,1288 no near-gene-5 105,874,1887 TT,TC,CC 19.4877,17.6,18.9114 131283376 1084,4648 875 1991 2866 SO:0001627 intron_variant AB020644 CCDS34228.1, CCDS34229.1, CCDS56381.1, CCDS56382.1, CCDS56383.1 5q31 2008-02-05 2004-02-19 2004-02-20 ENSG00000164398 ENSG00000164398 23305 Acyl-CoA synthetase family 16496 protein-coding gene gene with protein product 604443 fatty-acid-Coenzyme A ligase, long-chain 6 FACL6 NA 10502316, 10548543 Standard NM_015256 NM_015256 NA Approved KIAA0837, ACS2, LACS5, LACS2 uc003kvy.2 Q9UKU0 OTTHUMG00000150692 ENST00000379249.3:c.1957-21G>A chr5.hg19:g.131283376C>T NA J3KPG3|O94924|O95829|Q108M9|Q108N0|Q4G191|Q86TN7 hg19 0.02 11.337053 AATxAGA COVERED NOVEL ACSL6-202 KNOWN basic protein_coding NA protein_coding 1 4.548126 KEEP 0 1 25 24 844 CC 0.999931 0.999931 0 - 11 60 409 0 0 26.54348 240 60 9230 329 ENST00000379249.3 0.043825 1 ACSL6 23305 __UNKNOWN__ __UNKNOWN__ 5 131286708 131286708 __UNKNOWN__ 3'UTR SNP T T C rs648304 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:131286708T>C ENST00000379264.2 - 0 5496 ACSL6_ENST00000379249.3_Intron|AC034228.4_ENST00000446275.1_RNA NM_001009185.2 NP_001009185.1 Q9UKU0 ACSL6_HUMAN acyl-CoA synthetase long-chain family member 6 NA NA acyl-CoA metabolic process (GO:0006637)|cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|fatty acid transport (GO:0015908)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|phospholipid biosynthetic process (GO:0008654)|positive regulation of neuron projection development (GO:0010976)|positive regulation of plasma membrane long-chain fatty acid transport (GO:0010747)|positive regulation of triglyceride biosynthetic process (GO:0010867)|response to gravity (GO:0009629)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|peroxisome (GO:0005777)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|enzyme binding (GO:0019899)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein homodimerization activity (GO:0042803) NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 35 all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GTCCCGTCTCTCATTTGCAAG 0.358 NA C||| 2272 0.453674 0.6944 0.3991 5008 , , NA 16485 0.5099 NA 0.2624 False NA ,,, NA NA NA 2504 0.3057 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB020644 CCDS34228.1, CCDS34229.1, CCDS56381.1, CCDS56382.1, CCDS56383.1 5q31 2008-02-05 2004-02-19 2004-02-20 ENSG00000164398 ENSG00000164398 23305 Acyl-CoA synthetase family 16496 protein-coding gene gene with protein product 604443 fatty-acid-Coenzyme A ligase, long-chain 6 FACL6 NA 10502316, 10548543 Standard NM_015256 NM_015256 NA Approved KIAA0837, ACS2, LACS5, LACS2 uc003kvy.2 Q9UKU0 OTTHUMG00000150692 ENST00000379264.2:c.*3219A>G chr5.hg19:g.131286708T>C NA J3KPG3|O94924|O95829|Q108M9|Q108N0|Q4G191|Q86TN7 hg19 CCDS34229.1 0.02 4.037768 CTCxCAT COVERED NOVEL ACSL6-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000132619.1 0 3.91189 KEEP 0 0 0 13 415 TT 0.994391 0.99438 0 - 6 60 215 0 0 14.327469 101 60 3741 146 ENST00000379264.2 0.056075 0.999989 ACSL6 23305 __UNKNOWN__ __UNKNOWN__ 5 131288468 131288468 __UNKNOWN__ 3'UTR SNP G G A rs676944 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:131288468G>A ENST00000379264.2 - 0 3736 ACSL6_ENST00000357096.1_3'UTR|ACSL6_ENST00000379249.3_Intron|ACSL6_ENST00000379272.2_3'UTR|AC034228.4_ENST00000446275.1_RNA NM_001009185.2 NP_001009185.1 Q9UKU0 ACSL6_HUMAN acyl-CoA synthetase long-chain family member 6 NA NA acyl-CoA metabolic process (GO:0006637)|cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|fatty acid transport (GO:0015908)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|phospholipid biosynthetic process (GO:0008654)|positive regulation of neuron projection development (GO:0010976)|positive regulation of plasma membrane long-chain fatty acid transport (GO:0010747)|positive regulation of triglyceride biosynthetic process (GO:0010867)|response to gravity (GO:0009629)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|peroxisome (GO:0005777)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|enzyme binding (GO:0019899)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein homodimerization activity (GO:0042803) NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 35 all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) ACTTCGGCACGCTTAAAGATT 0.338 NA A||| 2176 0.434505 0.6694 0.3573 5008 , , NA 18868 0.5228 NA 0.2386 False NA ,,, NA NA NA 2504 0.2822 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB020644 CCDS34228.1, CCDS34229.1, CCDS56381.1, CCDS56382.1, CCDS56383.1 5q31 2008-02-05 2004-02-19 2004-02-20 ENSG00000164398 ENSG00000164398 23305 Acyl-CoA synthetase family 16496 protein-coding gene gene with protein product 604443 fatty-acid-Coenzyme A ligase, long-chain 6 FACL6 NA 10502316, 10548543 Standard NM_015256 NM_015256 NA Approved KIAA0837, ACS2, LACS5, LACS2 uc003kvy.2 Q9UKU0 OTTHUMG00000150692 ENST00000379264.2:c.*1459C>T chr5.hg19:g.131288468G>A NA J3KPG3|O94924|O95829|Q108M9|Q108N0|Q4G191|Q86TN7 hg19 CCDS34229.1 0.02 6.684167 CACxCTT COVERED NOVEL ACSL6-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000132619.1 2 2.308053 KEEP 0 1 32 19 635 GG 0.999863 0.999863 0 - 9 60 335 0 0 22.281106 171 60 5937 239 ENST00000379264.2 0.05 1 P4HA2 8974 __UNKNOWN__ __UNKNOWN__ 5 131528236 131528236 __UNKNOWN__ 3'UTR SNP G G T rs3805684 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:131528236G>T ENST00000401867.1 - 0 2643 P4HA2-AS1_ENST00000417667.1_RNA O15460 P4HA2_HUMAN prolyl 4-hydroxylase, alpha polypeptide II NA NA peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401) cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|procollagen-proline 4-dioxygenase complex (GO:0016222) electron carrier activity (GO:0009055)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656) breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(142;0.103)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Proline(DB00172)|Succinic acid(DB00139) CCTGCATGAAGGTGATGCATA 0.403 NA G||| 16 0.00319489 0.0 0.0058 5008 , , NA 20210 0.0119 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA Esophageal Squamous(68;117 1135 17362 19256 34242) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U90441 CCDS4151.1, CCDS34230.1 5q31 2008-12-09 2008-12-09 ENSG00000072682 ENSG00000072682 8974 1.14.11.2 8547 protein-coding gene gene with protein product 4-PH alpha 2, collagen prolyl 4-hydroxylase alpha(II) 600608 procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II NA 9211872, 9149945 Standard NM_004199 NM_001142598 NA Approved C-P4Halpha(II) uc003kwl.3 O15460 OTTHUMG00000059647 ENST00000401867.1:c.*467C>A chr5.hg19:g.131528236G>T NA D3DQ85|D3DQ86|Q8WWN0 hg19 CCDS4151.1 0.02 1.62865 GAAxGTG COVERED NOVEL P4HA2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000132653.4 0 4.213834 KEEP 0 0 0 14 501 GG 0.995343 0.995292 0 - 5 60 171 0 0 10.915348 93 60 3446 131 ENST00000401867.1 0.05102 0.999948 SLC22A5 6584 __UNKNOWN__ __UNKNOWN__ 5 131705458 131705458 __UNKNOWN__ 5'UTR SNP C C G rs2631367 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:131705458C>G ENST00000245407.3 + 0 15 AC034220.3_ENST00000417795.1_RNA NM_003060.3 NP_003051.1 O76082 S22A5_HUMAN solute carrier family 22 (organic cation/carnitine transporter), member 5 NA NA carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|positive regulation of intestinal epithelial structure maintenance (GO:0060731)|quaternary ammonium group transport (GO:0015697)|quorum sensing involved in interaction with host (GO:0052106)|sodium ion transport (GO:0006814)|sodium-dependent organic cation transport (GO:0070715)|transmembrane transport (GO:0055085) apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) antibiotic transporter activity (GO:0042895)|ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|drug transmembrane transporter activity (GO:0015238)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|symporter activity (GO:0015293) NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1) 8 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Acetylcarnitine(DB08842)|Aminohippurate(DB00345)|Amphetamine(DB00182)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benzylpenicillin(DB01053)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefradine(DB01333)|Ceftazidime(DB00438)|Cephalexin(DB00567)|Cephaloglycin(DB00689)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Creatine(DB00148)|Cyclacillin(DB01000)|Dactinomycin(DB00970)|Desipramine(DB01151)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Epinephrine(DB00668)|Furosemide(DB00695)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Mepyramine(DB06691)|Methamphetamine(DB01577)|Niacin(DB00627)|Nicotine(DB00184)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Probenecid(DB01032)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Sparfloxacin(DB01208)|Thiamine(DB00152)|Tiotropium(DB01409)|Valproic Acid(DB00313)|Verapamil(DB00661) CCCAGGCCCGCAACCTTCCCT 0.771 NA OREG0003455 type=REGULATORY REGION|Gene=SLC22A5|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay G||| 3671 0.733027 0.5764 0.6671 5008 , , NA 10665 0.999 NA 0.5567 False NA ,,, NA NA NA 2504 0.8988 NA NA NA NA 0 GRCh37 CR041140 SLC22A5 R rs2631367 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF057164 CCDS4154.1 5q23.3 2013-05-22 2008-01-11 ENSG00000197375 ENSG00000197375 6584 Solute carriers 10969 protein-coding gene gene with protein product 603377 CDSP NA 9618255, 9916797, 9685390 Standard NM_003060 NM_003060 NA Approved OCTN2, SCD uc003kww.4 O76082 OTTHUMG00000059634 ENST00000245407.3:c.-207C>G chr5.hg19:g.131705458C>G 1589 A2Q0V1|B2R844|D3DQ87|Q6ZQZ8|Q96EH6 hg19 CCDS4154.1 0.02 3.972446 CCGxAAC COVERED NOVEL SLC22A5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000132631.1 0 17.996443 KEEP 0 0 0 60 2099 CC 1 1 0 + 6 60 211 0 0 13.49642 120 60 4299 240 ENST00000245407.3 0.047619 1 SLC22A5 6584 __UNKNOWN__ __UNKNOWN__ 5 131721174 131721174 __UNKNOWN__ Silent SNP A A G rs274558 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:131721174A>G ENST00000245407.3 + 4 1028 c.807A>G c.(805-807)ctA>ctG p.L269L SLC22A5_ENST00000435065.2_Silent_p.L293L NM_003060.3 NP_003051.1 O76082 S22A5_HUMAN solute carrier family 22 (organic cation/carnitine transporter), member 5 269 NA carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|positive regulation of intestinal epithelial structure maintenance (GO:0060731)|quaternary ammonium group transport (GO:0015697)|quorum sensing involved in interaction with host (GO:0052106)|sodium ion transport (GO:0006814)|sodium-dependent organic cation transport (GO:0070715)|transmembrane transport (GO:0055085) apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) antibiotic transporter activity (GO:0042895)|ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|drug transmembrane transporter activity (GO:0015238)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|symporter activity (GO:0015293) NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1) 8 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Acetylcarnitine(DB08842)|Aminohippurate(DB00345)|Amphetamine(DB00182)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benzylpenicillin(DB01053)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefradine(DB01333)|Ceftazidime(DB00438)|Cephalexin(DB00567)|Cephaloglycin(DB00689)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Creatine(DB00148)|Cyclacillin(DB01000)|Dactinomycin(DB00970)|Desipramine(DB01151)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Epinephrine(DB00668)|Furosemide(DB00695)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Mepyramine(DB06691)|Methamphetamine(DB01577)|Niacin(DB00627)|Nicotine(DB00184)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Probenecid(DB01032)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Sparfloxacin(DB01208)|Thiamine(DB00152)|Tiotropium(DB01409)|Valproic Acid(DB00313)|Verapamil(DB00661) CGGGGGTGCTATGCGTGGCAC 0.557 NA OREG0016766 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) G||| 2435 0.486222 0.3434 0.33 5008 , , NA 16426 0.6736 NA 0.4145 False NA ,,, NA NA NA 2504 0.6708 NA NA NA NA 0 G 1555,2851 668.4+/-402.0 264,1027,912 113 100 104 807 -0.8 1 5 dbSNP_79 104 3365,5235 642.5+/-399.8 674,2017,1609 no coding-synonymous SLC22A5 NM_003060.3 938,3044,2521 GG,GA,AA 39.1279,35.2928,37.8287 269/558 131721174 4920,8086 2203 4300 6503 SO:0001819 synonymous_variant AF057164 CCDS4154.1 5q23.3 2013-05-22 2008-01-11 ENSG00000197375 ENSG00000197375 6584 Solute carriers 10969 protein-coding gene gene with protein product 603377 CDSP NA 9618255, 9916797, 9685390 Standard NM_003060 NM_003060 NA Approved OCTN2, SCD uc003kww.4 O76082 OTTHUMG00000059634 ENST00000245407.3:c.807A>G chr5.hg19:g.131721174A>G 1589 A2Q0V1|B2R844|D3DQ87|Q6ZQZ8|Q96EH6 hg19 CCDS4154.1 0.02 6.907995 GCTxTGC COVERED NOVEL SLC22A5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000132631.1 0 13.361409 KEEP 0 1 36 57 1699 AA 1 1 0 + 8 60 291 0 0 19.008149 158 60 5438 283 ENST00000245407.3 0.048193 1 SLC22A5 6584 __UNKNOWN__ __UNKNOWN__ 5 131721204 131721204 __UNKNOWN__ Intron SNP T T C rs274557 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:131721204T>C ENST00000245407.3 + 4 1045 SLC22A5_ENST00000435065.2_Intron NM_003060.3 NP_003051.1 O76082 S22A5_HUMAN solute carrier family 22 (organic cation/carnitine transporter), member 5 NA NA carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|positive regulation of intestinal epithelial structure maintenance (GO:0060731)|quaternary ammonium group transport (GO:0015697)|quorum sensing involved in interaction with host (GO:0052106)|sodium ion transport (GO:0006814)|sodium-dependent organic cation transport (GO:0070715)|transmembrane transport (GO:0055085) apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) antibiotic transporter activity (GO:0042895)|ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|drug transmembrane transporter activity (GO:0015238)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|symporter activity (GO:0015293) NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1) 8 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Acetylcarnitine(DB08842)|Aminohippurate(DB00345)|Amphetamine(DB00182)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benzylpenicillin(DB01053)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefradine(DB01333)|Ceftazidime(DB00438)|Cephalexin(DB00567)|Cephaloglycin(DB00689)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Creatine(DB00148)|Cyclacillin(DB01000)|Dactinomycin(DB00970)|Desipramine(DB01151)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Epinephrine(DB00668)|Furosemide(DB00695)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Mepyramine(DB06691)|Methamphetamine(DB01577)|Niacin(DB00627)|Nicotine(DB00184)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Probenecid(DB01032)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Sparfloxacin(DB01208)|Thiamine(DB00152)|Tiotropium(DB01409)|Valproic Acid(DB00313)|Verapamil(DB00661) GAGTGTGACCTTGTGCCCCAT 0.567 NA OREG0016766 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) C||| 2434 0.486022 0.3434 0.3285 5008 , , NA 17343 0.6736 NA 0.4145 False NA ,,, NA NA NA 2504 0.6708 NA NA NA NA 0 C 1539,2867 264,1011,928 81 72 75 1.2 0 5 dbSNP_79 75 3324,5276 674,1976,1650 no intron SLC22A5 NM_003060.3 938,2987,2578 CC,CT,TT 38.6512,34.9296,37.3904 131721204 4863,8143 2203 4300 6503 SO:0001627 intron_variant AF057164 CCDS4154.1 5q23.3 2013-05-22 2008-01-11 ENSG00000197375 ENSG00000197375 6584 Solute carriers 10969 protein-coding gene gene with protein product 603377 CDSP NA 9618255, 9916797, 9685390 Standard NM_003060 NM_003060 NA Approved OCTN2, SCD uc003kww.4 O76082 OTTHUMG00000059634 ENST00000245407.3:c.824+13T>C chr5.hg19:g.131721204T>C 1589 A2Q0V1|B2R844|D3DQ87|Q6ZQZ8|Q96EH6 hg19 CCDS4154.1 0.02 7.188629 ACCxTGT COVERED NOVEL SLC22A5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000132631.1 0 11.871717 KEEP 0 1 39 53 1709 TT 1 1 0 + 7 60 272 0 0 17.906425 161 60 5898 287 ENST00000245407.3 0.041667 1 C5orf56 441108 __UNKNOWN__ __UNKNOWN__ 5 131797547 131797547 __UNKNOWN__ 3'UTR SNP A A G rs6894249 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:131797547A>G ENST00000337752.2 + 0 1513 C5orf56_ENST00000407797.1_Intron|C5orf56_ENST00000378953.4_Intron Q8N8D9 CE056_HUMAN chromosome 5 open reading frame 56 NA NA breast(1)|endometrium(1)|large_intestine(1)|lung(3) 6 gtccatgacaagaggagtgga 0.348 NA A||| 2637 0.526558 0.5545 0.5937 5008 , , NA 23271 0.6131 NA 0.4095 False NA ,,, NA NA NA 2504 0.4724 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC130299 5q31.1 2009-04-20 ENSG00000197536 ENSG00000197536 441108 33838 protein-coding gene gene with protein product NA Standard NM_001013717 NR_045116 NA Approved uc010jds.2 Q8N8D9 OTTHUMG00000059493 ENST00000337752.2:c.*1001A>G chr5.hg19:g.131797547A>G NA A1L3V9|A6NKA0 hg19 0.02 16.602394 ACAxGAG COVERED NOVEL C5orf56-001 NOVEL basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000132329.1 3 30.729057 KEEP 0 1 34 114 3686 AA 1 1 0 + 18 60 689 0 0 46.371335 346 60 12699 621 ENST00000337752.2 0.049451 1 C5orf56 441108 __UNKNOWN__ __UNKNOWN__ 5 131797578 131797578 __UNKNOWN__ 3'UTR SNP T T C rs2522051 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:131797578T>C ENST00000337752.2 + 0 1544 C5orf56_ENST00000407797.1_Intron|C5orf56_ENST00000378953.4_Intron Q8N8D9 CE056_HUMAN chromosome 5 open reading frame 56 NA NA breast(1)|endometrium(1)|large_intestine(1)|lung(3) 6 atggtgaatatgtacaatgga 0.333 NA C||| 2968 0.592652 0.4168 0.6009 5008 , , NA 23474 0.7133 NA 0.4831 False NA ,,, NA NA NA 2504 0.8129 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC130299 5q31.1 2009-04-20 ENSG00000197536 ENSG00000197536 441108 33838 protein-coding gene gene with protein product NA Standard NM_001013717 NR_045116 NA Approved uc010jds.2 Q8N8D9 OTTHUMG00000059493 ENST00000337752.2:c.*1032T>C chr5.hg19:g.131797578T>C NA A1L3V9|A6NKA0 hg19 0.02 17.896892 ATAxGTA COVERED NOVEL C5orf56-001 NOVEL basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000132329.1 3 32.633508 KEEP 0 1 36 121 3847 TT 1 1 0 + 30 60 1046 0 0 72.332446 380 60 14191 694 ENST00000337752.2 0.073171 1 IL4 3565 __UNKNOWN__ __UNKNOWN__ 5 132009710 132009710 __UNKNOWN__ 5'UTR SNP C C T rs2070874 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:132009710C>T ENST00000231449.2 + 0 33 NM_000589.3 NP_000580.1 P05112 IL4_HUMAN interleukin 4 NA NA B cell costimulation (GO:0031296)|B cell differentiation (GO:0030183)|cellular defense response (GO:0006968)|cellular response to mercury ion (GO:0071288)|chemotaxis (GO:0006935)|cholesterol metabolic process (GO:0008203)|connective tissue growth factor biosynthetic process (GO:0045189)|defense response to protozoan (GO:0042832)|dendritic cell differentiation (GO:0097028)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|female pregnancy (GO:0007565)|immune response (GO:0006955)|innate immune response in mucosa (GO:0002227)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chronic inflammatory response (GO:0002677)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of macrophage activation (GO:0043031)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of T-helper 17 cell differentiation (GO:2000320)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of immune response (GO:0050776)|regulation of isotype switching (GO:0045191)|regulation of phosphorylation (GO:0042325)|regulation of proton transport (GO:0010155)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|T-helper 1 cell lineage commitment (GO:0002296)|T-helper 2 cell cytokine production (GO:0035745)|T-helper 2 cell differentiation (GO:0045064)|type 2 immune response (GO:0042092) external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615) growth factor activity (GO:0008083)|interleukin-4 receptor binding (GO:0005136) NS(1)|large_intestine(3)|lung(3)|prostate(1) 8 all_cancers(142;2.81e-05)|all_lung(232;1.47e-05)|Lung NSC(810;2.31e-05)|all_neural(839;0.0459)|Ovarian(839;0.0481)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GBM - Glioblastoma multiforme(465;0.00245) AAACTAATTGCCTCACATTGT 0.418 NA T||| 2009 0.401158 0.4788 0.3458 5008 , , NA 20560 0.7788 NA 0.168 False NA ,,, NA NA NA 2504 0.1861 NA NA NA NA 0 T , 1759,2647 644.8+/-398.1 393,973,837 171 155 161 , -1 0 5 dbSNP_96 161 1197,7403 763.8+/-407.6 86,1025,3189 no utr-5,utr-5 IL4 NM_000589.2,NM_172348.1 , 479,1998,4026 TT,TC,CC 13.9186,39.9228,22.728 , , 132009710 2956,10050 2203 4300 6503 SO:0001623 5_prime_UTR_variant M23442 CCDS4158.1, CCDS4159.1 5q23-q31 2011-07-14 ENSG00000113520 ENSG00000113520 3565 Interleukins and interleukin receptors 6014 protein-coding gene gene with protein product B_cell stimulatory factor 1, lymphocyte stimulatory factor 1, B cell growth factor 1 147780 NA 3016727 Standard NM_000589 NM_000589 NA Approved BSF1, IL-4, BCGF1, BCGF-1, MGC79402 uc003kxk.2 P05112 OTTHUMG00000059724 ENST00000231449.2:c.-33C>T chr5.hg19:g.132009710C>T NA Q14630|Q6NZ77 hg19 CCDS4158.1 0.02 35.142087 TTGxCTC COVERED NOVEL IL4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000132786.1 4 31.001501 KEEP 0 0 0 103 3693 CC 1 1 0 + 30 60 1082 0 0 65.828134 843 60 31405 1151 ENST00000231449.2 0.034364 1 IL4 3565 __UNKNOWN__ __UNKNOWN__ 5 132018132 132018132 __UNKNOWN__ Intron SNP A A G rs2243289 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:132018132A>G ENST00000231449.2 + 4 425 IL4_ENST00000350025.2_Intron NM_000589.3 NP_000580.1 P05112 IL4_HUMAN interleukin 4 NA NA B cell costimulation (GO:0031296)|B cell differentiation (GO:0030183)|cellular defense response (GO:0006968)|cellular response to mercury ion (GO:0071288)|chemotaxis (GO:0006935)|cholesterol metabolic process (GO:0008203)|connective tissue growth factor biosynthetic process (GO:0045189)|defense response to protozoan (GO:0042832)|dendritic cell differentiation (GO:0097028)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|female pregnancy (GO:0007565)|immune response (GO:0006955)|innate immune response in mucosa (GO:0002227)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chronic inflammatory response (GO:0002677)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of macrophage activation (GO:0043031)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of T-helper 17 cell differentiation (GO:2000320)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of immune response (GO:0050776)|regulation of isotype switching (GO:0045191)|regulation of phosphorylation (GO:0042325)|regulation of proton transport (GO:0010155)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|T-helper 1 cell lineage commitment (GO:0002296)|T-helper 2 cell cytokine production (GO:0035745)|T-helper 2 cell differentiation (GO:0045064)|type 2 immune response (GO:0042092) external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615) growth factor activity (GO:0008083)|interleukin-4 receptor binding (GO:0005136) NS(1)|large_intestine(3)|lung(3)|prostate(1) 8 all_cancers(142;2.81e-05)|all_lung(232;1.47e-05)|Lung NSC(810;2.31e-05)|all_neural(839;0.0459)|Ovarian(839;0.0481)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GBM - Glioblastoma multiforme(465;0.00245) CAGGCAGGCAAGACAAATGCT 0.443 NA A||| 1732 0.345847 0.2761 0.3314 5008 , , NA 16336 0.7827 NA 0.168 False NA ,,, NA NA NA 2504 0.183 NA NA NA NA 0 A , 1096,3310 380.2+/-323.6 157,782,1264 55 56 56 , 0.7 0 5 dbSNP_98 56 1180,7420 225.1+/-261.3 85,1010,3205 no intron,intron IL4 NM_000589.2,NM_172348.1 , 242,1792,4469 GG,GA,AA 13.7209,24.8752,17.4996 , , 132018132 2276,10730 2203 4300 6503 SO:0001627 intron_variant M23442 CCDS4158.1, CCDS4159.1 5q23-q31 2011-07-14 ENSG00000113520 ENSG00000113520 3565 Interleukins and interleukin receptors 6014 protein-coding gene gene with protein product B_cell stimulatory factor 1, lymphocyte stimulatory factor 1, B cell growth factor 1 147780 NA 3016727 Standard NM_000589 NM_000589 NA Approved BSF1, IL-4, BCGF1, BCGF-1, MGC79402 uc003kxk.2 P05112 OTTHUMG00000059724 ENST00000231449.2:c.361-46A>G chr5.hg19:g.132018132A>G NA Q14630|Q6NZ77 hg19 CCDS4158.1 0.02 8.853727 GCAxGAC COVERED NOVEL IL4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000132786.1 1 5.716831 KEEP 0 0 0 19 604 AA 0.99986 0.99986 0 + 9 60 323 0 0 20.565506 196 60 7050 252 ENST00000231449.2 0.043902 1 IL4 3565 __UNKNOWN__ __UNKNOWN__ 5 132018169 132018169 __UNKNOWN__ Intron SNP C C A rs2243290 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:132018169C>A ENST00000231449.2 + 4 425 IL4_ENST00000350025.2_Intron NM_000589.3 NP_000580.1 P05112 IL4_HUMAN interleukin 4 NA NA B cell costimulation (GO:0031296)|B cell differentiation (GO:0030183)|cellular defense response (GO:0006968)|cellular response to mercury ion (GO:0071288)|chemotaxis (GO:0006935)|cholesterol metabolic process (GO:0008203)|connective tissue growth factor biosynthetic process (GO:0045189)|defense response to protozoan (GO:0042832)|dendritic cell differentiation (GO:0097028)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|female pregnancy (GO:0007565)|immune response (GO:0006955)|innate immune response in mucosa (GO:0002227)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chronic inflammatory response (GO:0002677)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of macrophage activation (GO:0043031)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of T-helper 17 cell differentiation (GO:2000320)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of immune response (GO:0050776)|regulation of isotype switching (GO:0045191)|regulation of phosphorylation (GO:0042325)|regulation of proton transport (GO:0010155)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|T-helper 1 cell lineage commitment (GO:0002296)|T-helper 2 cell cytokine production (GO:0035745)|T-helper 2 cell differentiation (GO:0045064)|type 2 immune response (GO:0042092) external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615) growth factor activity (GO:0008083)|interleukin-4 receptor binding (GO:0005136) NS(1)|large_intestine(3)|lung(3)|prostate(1) 8 all_cancers(142;2.81e-05)|all_lung(232;1.47e-05)|Lung NSC(810;2.31e-05)|all_neural(839;0.0459)|Ovarian(839;0.0481)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GBM - Glioblastoma multiforme(465;0.00245) TGAAATGTTTCTTTTGCAGAA 0.413 NA C||| 1870 0.373403 0.3752 0.3401 5008 , , NA 16416 0.7827 NA 0.17 False NA ,,, NA NA NA 2504 0.182 NA NA NA NA 0 C , 1464,2942 473.1+/-356.6 270,924,1009 87 87 87 , 3.5 0.7 5 dbSNP_98 87 1191,7409 241.7+/-271.9 85,1021,3194 no intron,intron IL4 NM_000589.2,NM_172348.1 , 355,1945,4203 AA,AC,CC 13.8488,33.2274,20.4137 , , 132018169 2655,10351 2203 4300 6503 SO:0001627 intron_variant M23442 CCDS4158.1, CCDS4159.1 5q23-q31 2011-07-14 ENSG00000113520 ENSG00000113520 3565 Interleukins and interleukin receptors 6014 protein-coding gene gene with protein product B_cell stimulatory factor 1, lymphocyte stimulatory factor 1, B cell growth factor 1 147780 NA 3016727 Standard NM_000589 NM_000589 NA Approved BSF1, IL-4, BCGF1, BCGF-1, MGC79402 uc003kxk.2 P05112 OTTHUMG00000059724 ENST00000231449.2:c.361-9C>A chr5.hg19:g.132018169C>A NA Q14630|Q6NZ77 hg19 CCDS4158.1 0.02 10.363278 TTTxTTT COVERED NOVEL IL4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000132786.1 2 10.232395 KEEP 0 0 0 34 1151 CC 0.999998 0.999998 0 + 17 60 580 0 0 38.550085 254 60 9566 360 ENST00000231449.2 0.062731 1 KIF3A 11127 __UNKNOWN__ __UNKNOWN__ 5 132030414 132030414 __UNKNOWN__ 3'UTR SNP T T A rs11242126 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:132030414T>A ENST00000378746.4 - 0 4230 AC004237.1_ENST00000431165.1_RNA NM_007054.5 NP_008985.3 Q9Y496 KIF3A_HUMAN kinesin family member 3A NA NA anterior/posterior pattern specification (GO:0009952)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|organelle organization (GO:0006996)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of receptor-mediated endocytosis (GO:0048260)|smoothened signaling pathway (GO:0007224) centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|neuron projection (GO:0043005)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)|synaptic vesicle (GO:0008021) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|spectrin binding (GO:0030507) endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 25 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TACCAAAATATTCTGATCACA 0.279 NA T||| 1826 0.364617 0.382 0.33 5008 , , NA 15034 0.752 NA 0.169 False NA ,,, NA NA NA 2504 0.1677 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF041853 CCDS34235.1, CCDS75295.1, CCDS75296.1 5q31 2012-08-01 ENSG00000131437 ENSG00000131437 11127 Kinesins 6319 protein-coding gene gene with protein product kinesin family protein 3A 604683 NA 1054846 Standard NM_007054 XM_005271868 NA Approved FLA10, KLP-20 uc003kxo.3 Q9Y496 OTTHUMG00000059725 ENST00000378746.4:c.*1912A>T chr5.hg19:g.132030414T>A NA A8MSW9|Q59EN1|Q86XE9|Q9Y6V4 hg19 CCDS34235.1 0.02 10.595189 ATAxTCT COVERED NOVEL KIF3A-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000132788.3 0 11.120964 KEEP 0 0 0 37 1149 TT 1 1 0 - 9 60 328 0 0 20.17825 247 60 9132 345 ENST00000378746.4 0.035156 1 KIF3A 11127 __UNKNOWN__ __UNKNOWN__ 5 132030959 132030959 __UNKNOWN__ 3'UTR SNP G G C rs144315164 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:132030959G>C ENST00000378746.4 - 0 3685 AC004237.1_ENST00000431165.1_RNA NM_007054.5 NP_008985.3 Q9Y496 KIF3A_HUMAN kinesin family member 3A NA NA anterior/posterior pattern specification (GO:0009952)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|organelle organization (GO:0006996)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of receptor-mediated endocytosis (GO:0048260)|smoothened signaling pathway (GO:0007224) centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|neuron projection (GO:0043005)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)|synaptic vesicle (GO:0008021) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|spectrin binding (GO:0030507) endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 25 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) cgcctcccaggttcaagtgat 0.488 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF041853 CCDS34235.1, CCDS75295.1, CCDS75296.1 5q31 2012-08-01 ENSG00000131437 ENSG00000131437 11127 Kinesins 6319 protein-coding gene gene with protein product kinesin family protein 3A 604683 NA 1054846 Standard NM_007054 XM_005271868 NA Approved FLA10, KLP-20 uc003kxo.3 Q9Y496 OTTHUMG00000059725 ENST00000378746.4:c.*1367C>G chr5.hg19:g.132030959G>C NA A8MSW9|Q59EN1|Q86XE9|Q9Y6V4 hg19 CCDS34235.1 0.02 -0.070187 CAGxTTC UNCOVERED NOVEL KIF3A-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000132788.3 4 2.407866 KEEP 1 0 0 8 284 GG 0 0 0 - 2 48 80 0 0 7.000546 6 60 224 19 ENST00000378746.4 0.25 0.054137 KIF3A 11127 __UNKNOWN__ __UNKNOWN__ 5 132031972 132031972 __UNKNOWN__ 3'UTR SNP T T C rs12514976 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:132031972T>C ENST00000378735.1 - 0 2615 KIF3A_ENST00000378746.4_3'UTR|AC004237.1_ENST00000431165.1_RNA Q9Y496 KIF3A_HUMAN kinesin family member 3A NA NA anterior/posterior pattern specification (GO:0009952)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|organelle organization (GO:0006996)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of receptor-mediated endocytosis (GO:0048260)|smoothened signaling pathway (GO:0007224) centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|neuron projection (GO:0043005)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)|synaptic vesicle (GO:0008021) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|spectrin binding (GO:0030507) endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 25 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TTTTTTTCTATTTTGAAATTC 0.318 NA T||| 1825 0.364417 0.3828 0.33 5008 , , NA 16897 0.75 NA 0.169 False NA ,,, NA NA NA 2504 0.1677 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF041853 CCDS34235.1, CCDS75295.1, CCDS75296.1 5q31 2012-08-01 ENSG00000131437 ENSG00000131437 11127 Kinesins 6319 protein-coding gene gene with protein product kinesin family protein 3A 604683 NA 1054846 Standard NM_007054 XM_005271868 NA Approved FLA10, KLP-20 uc003kxo.3 Q9Y496 OTTHUMG00000059725 ENST00000378735.1:c.*354A>G chr5.hg19:g.132031972T>C NA A8MSW9|Q59EN1|Q86XE9|Q9Y6V4 hg19 0.02 8.164677 CTAxTTT COVERED NOVEL KIF3A-002 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000132820.1 3 13.84262 KEEP 0 0 0 46 1479 TT 1 1 0 - 10 60 324 0 0 19.224848 227 60 7954 336 ENST00000378735.1 0.042194 1 KIF3A 11127 __UNKNOWN__ __UNKNOWN__ 5 132044738 132044738 __UNKNOWN__ Intron SNP C C G rs2299006 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:132044738C>G ENST00000378735.1 - 9 1381 KIF3A_ENST00000403231.1_Intron|KIF3A_ENST00000378746.4_Intron|AC004237.1_ENST00000431165.1_RNA Q9Y496 KIF3A_HUMAN kinesin family member 3A NA NA anterior/posterior pattern specification (GO:0009952)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|organelle organization (GO:0006996)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of receptor-mediated endocytosis (GO:0048260)|smoothened signaling pathway (GO:0007224) centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|neuron projection (GO:0043005)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)|synaptic vesicle (GO:0008021) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|spectrin binding (GO:0030507) endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 25 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) AACACACACACAGAGAAAAAT 0.348 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF041853 CCDS34235.1, CCDS75295.1, CCDS75296.1 5q31 2012-08-01 ENSG00000131437 ENSG00000131437 11127 Kinesins 6319 protein-coding gene gene with protein product kinesin family protein 3A 604683 NA 1054846 Standard NM_007054 XM_005271868 NA Approved FLA10, KLP-20 uc003kxo.3 Q9Y496 OTTHUMG00000059725 ENST00000378735.1:c.1228+1912G>C chr5.hg19:g.132044738C>G NA A8MSW9|Q59EN1|Q86XE9|Q9Y6V4 hg19 0.02 4.287821 ACAxAGA COVERED NOVEL KIF3A-002 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000132820.1 1 8.728187 KEEP 0 0 0 29 1014 CC 0.999997 0.999996 0 - 5 60 187 0 0 11.989412 119 60 4498 159 ENST00000378735.1 0.040323 0.999999 SEPT8 23176 __UNKNOWN__ __UNKNOWN__ 5 132093649 132093649 __UNKNOWN__ Intron SNP T T C rs30534 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:132093649T>C ENST00000378721.4 - 9 1381 SEPT8_ENST00000378719.2_Intron|SEPT8_ENST00000481030.1_Intron|SEPT8_ENST00000296873.7_3'UTR|SEPT8_ENST00000378706.1_3'UTR|SEPT8_ENST00000448933.1_3'UTR Q92599 SEPT8_HUMAN septin 8 NA NA cell cycle (GO:0007049) septin complex (GO:0031105) GTP binding (GO:0005525) SEPT8/AFF4(2) kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1) 11 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) ATGCAGGATTTGCTTGGGAGT 0.468 NA C||| 2466 0.492412 0.9138 0.3213 5008 , , NA 22055 0.7183 NA 0.1441 False NA ,,, NA NA NA 2504 0.1697 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF179995 CCDS43358.1, CCDS43359.1, CCDS43360.1, CCDS47262.1, CCDS75298.1 5q31 2013-01-21 ENSG00000164402 ENSG00000164402 23176 Septins 16511 protein-coding gene gene with protein product 608418 NA 9039502, 9149945 Standard XM_034872 NM_001098812 NA Approved KIAA0202, SEP2 uc003kxr.2 Q92599 OTTHUMG00000059735 ENST00000378721.4:c.1280+2844A>G chr5.hg19:g.132093649T>C NA A6NC65|A6NKP6|F6W7K9|Q8IX36|Q8IX37|Q9BVB3 hg19 0.02 5.818893 ATTxGCT COVERED NOVEL SEPT8-006 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000132831.2 1 10.526538 KEEP 0 0 0 35 1036 TT 0.999999 0.999999 0 - 6 60 212 0 0 12.381772 193 60 6994 277 ENST00000378721.4 0.030151 1 SAR1B 51128 __UNKNOWN__ __UNKNOWN__ 5 133942492 133942492 __UNKNOWN__ 3'UTR SNP T T C rs7728741 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:133942492T>C ENST00000402673.2 - 0 1023 SAR1B_ENST00000439578.1_3'UTR|SAR1B_ENST00000507419.1_3'UTR|SAR1B_ENST00000502539.1_3'UTR NM_016103.3 NP_057187.1 Q9Y6B6 SAR1B_HUMAN secretion associated, Ras related GTPase 1B NA NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|GTP catabolic process (GO:0006184)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139) GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872) kidney(2)|lung(2)|urinary_tract(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TCAATTCTCATTCAAATTAAG 0.264 NA C||| 1085 0.216653 0.1921 0.2161 5008 , , NA 17341 0.3373 NA 0.1511 False NA ,,, NA NA NA 2504 0.1933 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF092130 CCDS4177.1 5q31.1 2014-03-07 2014-03-07 2005-10-21 ENSG00000152700 ENSG00000152700 51128 10535 protein-coding gene gene with protein product 607690 SAR1a gene homolog (S. cerevisiae) 2, SAR1a gene homolog 2 (S. cerevisiae), SAR1 homolog B (S. cerevisiae) SARA2 NA Standard NM_016103 NM_001033503 NA Approved uc003kzr.3 Q9Y6B6 OTTHUMG00000129114 ENST00000402673.2:c.*148A>G chr5.hg19:g.133942492T>C NA D3DQA4|Q567T4 hg19 CCDS4177.1 0.02 12.673516 TCAxTCA COVERED NOVEL SAR1B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251158.2 2 8.156746 KEEP 0 1 37 40 1193 TT 1 1 0 - 10 60 375 0 0 23.036417 304 60 11178 364 ENST00000402673.2 0.031847 1 SAR1B 51128 __UNKNOWN__ __UNKNOWN__ 5 133959863 133959863 __UNKNOWN__ Intron SNP C C G rs60354052 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:133959863C>G ENST00000402673.2 - 2 261 SAR1B_ENST00000439578.1_Intron|SAR1B_ENST00000507419.1_Intron NM_016103.3 NP_057187.1 Q9Y6B6 SAR1B_HUMAN secretion associated, Ras related GTPase 1B NA NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|GTP catabolic process (GO:0006184)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139) GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872) kidney(2)|lung(2)|urinary_tract(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) ctttgggaagctgaggtgggt 0.413 NA C||| 316 0.063099 0.1581 0.036 5008 , , NA 20868 0.0536 NA 0.0119 False NA ,,, NA NA NA 2504 0.0164 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF092130 CCDS4177.1 5q31.1 2014-03-07 2014-03-07 2005-10-21 ENSG00000152700 ENSG00000152700 51128 10535 protein-coding gene gene with protein product 607690 SAR1a gene homolog (S. cerevisiae) 2, SAR1a gene homolog 2 (S. cerevisiae), SAR1 homolog B (S. cerevisiae) SARA2 NA Standard NM_016103 NM_001033503 NA Approved uc003kzr.3 Q9Y6B6 OTTHUMG00000129114 ENST00000402673.2:c.18-136G>C chr5.hg19:g.133959863C>G NA D3DQA4|Q567T4 hg19 CCDS4177.1 0.02 5.780593 AAGxTGA COVERED NOVEL SAR1B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251158.2 2 9.330361 KEEP 0 0 0 31 1112 CC 0.999997 0.999997 0 - 6 60 211 0 0 12.377795 186 60 7089 229 ENST00000402673.2 0.03125 1 DDX46 9879 __UNKNOWN__ __UNKNOWN__ 5 134118862 134118862 __UNKNOWN__ Intron SNP G G A rs254716 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:134118862G>A ENST00000354283.4 + 9 1301 DDX46_ENST00000452510.2_Intron|DDX46_ENST00000509178.1_Intron Q7L014 DDX46_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 46 NA NA mRNA processing (GO:0006397)|RNA splicing (GO:0008380) nucleolus (GO:0005730)|nucleus (GO:0005634) ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822) NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) AAACCCTTACGTTTTAAAAAA 0.303 NA G||| 297 0.0593051 0.1513 0.0259 5008 , , NA 17234 0.0516 NA 0.0099 False NA ,,, NA NA NA 2504 0.0174 NA NA NA Colon(13;391 453 4901 21675 24897) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS34240.1, CCDS75306.1 5q31.1 2010-01-25 ENSG00000145833 ENSG00000145833 9879 DEAD-boxes 18681 protein-coding gene gene with protein product NA Standard NM_014829 XM_005272142 NA Approved KIAA0801, FLJ25329, PRPF5, Prp5 uc003kzw.3 Q7L014 OTTHUMG00000163072 ENST00000354283.4:c.1166+107G>A chr5.hg19:g.134118862G>A NA O94894|Q96EI0|Q9Y658 hg19 CCDS34240.1 0.02 8.456961 TACxTTT COVERED NOVEL DDX46-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000371584.1 1 12.038971 KEEP 0 0 0 40 1387 GG 1 1 0 + 7 60 250 0 0 14.935735 209 60 7658 277 ENST00000354283.4 0.032407 1 DDX46 9879 __UNKNOWN__ __UNKNOWN__ 5 134132878 134132878 __UNKNOWN__ Intron SNP A A C rs60147299 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:134132878A>C ENST00000354283.4 + 15 2089 DDX46_ENST00000452510.2_Intron Q7L014 DDX46_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 46 NA NA mRNA processing (GO:0006397)|RNA splicing (GO:0008380) nucleolus (GO:0005730)|nucleus (GO:0005634) ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822) NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) aaaaaaaaaaaaaaaaaaaaC 0.388 NA NA NA NA NA NA NA NA NA NA Colon(13;391 453 4901 21675 24897) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS34240.1, CCDS75306.1 5q31.1 2010-01-25 ENSG00000145833 ENSG00000145833 9879 DEAD-boxes 18681 protein-coding gene gene with protein product NA Standard NM_014829 XM_005272142 NA Approved KIAA0801, FLJ25329, PRPF5, Prp5 uc003kzw.3 Q7L014 OTTHUMG00000163072 ENST00000354283.4:c.1954+1038A>C chr5.hg19:g.134132878A>C NA O94894|Q96EI0|Q9Y658 hg19 CCDS34240.1 0.02 -0.394644 AAAxAAA COVERED . . . . . . . . . . A 3.378 -0.126947 0.06795 . . ENSG00000145833 ENST00000537371 . . . 0.128 0.128 0.14733 . . . . . T 0.39655 0.1086 . . . 0.09310 N 1 . . . . . . T 0.39663 -0.9603 4 0.87932 D 0 . . . . . . . . T 258 . ENSP00000441412:K258T K + 2 0 DDX46 134160777 0.015000 0.18098 0.096000 0.21009 0.152000 0.21847 0.259000 0.18405 0.243000 0.21327 0.240000 0.17902 AAA NOVEL DDX46-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000371584.1 8 6.914786 KEEP 4 0 0 23 691 AA 0.999863 0.926513 0 + 3 60 102 0 0 7.764582 20 60 715 87 ENST00000354283.4 0.130435 0.92664 C5orf24 134553 __UNKNOWN__ __UNKNOWN__ 5 134193043 134193043 __UNKNOWN__ Intron SNP T T G rs78987868 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:134193043T>G ENST00000504727.1 + 3 547 C5orf24_ENST00000338051.4_3'UTR|C5orf24_ENST00000394976.3_3'UTR Q7Z6I8 CE024_HUMAN chromosome 5 open reading frame 24 NA NA breast(2)|endometrium(2)|lung(2) 6 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) ACCTTTTTTATCAGGAAAAAA 0.363 NA T||| 189 0.0377396 0.0719 0.0202 5008 , , NA 18173 0.0526 NA 0.0099 False NA ,,, NA NA NA 2504 0.0174 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC053677 CCDS4179.1, CCDS75307.1 5q31.1 2008-02-05 ENSG00000181904 ENSG00000181904 134553 26746 protein-coding gene gene with protein product NA 12477932 Standard NM_152409 NM_152409 NA Approved FLJ37562 uc003kzz.3 Q7Z6I8 OTTHUMG00000129121 ENST00000504727.1:c.428-4T>G chr5.hg19:g.134193043T>G NA D3DQA7|Q86Y53|Q8N1T9 hg19 0.02 25.193833 TTAxCAG COVERED NOVEL C5orf24-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000371533.1 0 26.780207 KEEP 0 0 0 89 2788 TT 1 1 0 + 17 60 650 1 0 39.817003 561 60 20748 799 ENST00000504727.1 0.029412 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 5 134363145 134363145 __UNKNOWN__ IGR SNP G G A rs31211 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:134363145G>A NA NA CATSPER3 (15753 upstream) : PITX1 (279 downstream) NA NA NA TCCCGCAGCCGCGGAGGGAGG 0.706 NA G||| 1773 0.354034 0.2587 0.3357 5008 , , NA 15868 0.4762 NA 0.2704 False NA ,,, NA NA NA 2504 0.456 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr5.hg19:g.134363145G>A NA hg19 0.02 10.041476 GCCxCGG COVERED NOVEL 0 1 24.97877 KEEP 0 0 0 83 2835 GG 1 1 0 12 60 408 0 0 24.952783 273 60 9489 457 0.042105 1 PITX1 5307 __UNKNOWN__ __UNKNOWN__ 5 134364102 134364102 __UNKNOWN__ 3'UTR SNP C C T rs39599 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:134364102C>T ENST00000265340.7 - 0 1728 NM_002653.4 NP_002644.4 P78337 PITX1_HUMAN paired-like homeodomain 1 NA NA anatomical structure morphogenesis (GO:0009653)|branchiomeric skeletal muscle development (GO:0014707)|cartilage development (GO:0051216)|embryonic hindlimb morphogenesis (GO:0035116)|myoblast fate commitment (GO:0048625)|pituitary gland development (GO:0021983)|skeletal system development (GO:0001501) cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190) central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1) 14 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) READ - Rectum adenocarcinoma(2;0.0607) TGGGCCTCGGCGCTCGCCTAC 0.736 NA C||| 1601 0.319688 0.1339 0.3271 5008 , , NA 8281 0.4762 NA 0.2694 False NA ,,, NA NA NA 2504 0.456 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF009648 CCDS4182.1 5q31.1 2011-06-20 2007-07-12 ENSG00000069011 ENSG00000069011 5307 Homeoboxes / PRD class 9004 protein-coding gene gene with protein product 602149 paired-like homeodomain transcription factor 1 BFT NA 9337397, 9070926 Standard NM_002653 NA Approved PTX1, POTX uc010jea.3 P78337 OTTHUMG00000149983 ENST00000265340.7:c.*367G>A chr5.hg19:g.134364102C>T NA A8K3M0|D3DQB0|O14677|O60425|Q9BTI5 hg19 CCDS4182.1 0.02 16.56442 CGGxGCT COVERED NOVEL PITX1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251195.3 13 33.440009 KEEP 0 1 34 123 4243 CC 1 1 0 - 28 60 917 0 0 60.955006 376 70 13132 650 ENST00000265340.7 0.069307 1 PITX1 5307 __UNKNOWN__ __UNKNOWN__ 5 134364518 134364518 __UNKNOWN__ Missense_Mutation SNP C C G rs479632 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:134364518C>G ENST00000265340.7 - 3 1312 c.896G>C c.(895-897)gGc>gCc p.G299A PITX1_ENST00000506438.1_Missense_Mutation_p.G299A NM_002653.4 NP_002644.4 P78337 PITX1_HUMAN paired-like homeodomain 1 299 NA G -> A (in dbSNP:rs479632). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15372022, ECO:0000269|PubMed:15489334}. anatomical structure morphogenesis (GO:0009653)|branchiomeric skeletal muscle development (GO:0014707)|cartilage development (GO:0051216)|embryonic hindlimb morphogenesis (GO:0035116)|myoblast fate commitment (GO:0048625)|pituitary gland development (GO:0021983)|skeletal system development (GO:0001501) cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190) central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1) 14 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) READ - Rectum adenocarcinoma(2;0.0607) GCCCTGCAGGCCGCCGTAGCC 0.721 NA C||| 1602 0.319888 0.1339 0.3271 5008 , , NA 9300 0.4762 NA 0.2704 False NA ,,, NA NA NA 2504 0.456 NA NA NA NA 0 C ALA/GLY 685,3721 52,581,1570 24 25 25 896 4.3 1 5 dbSNP_83 25 2132,6468 259,1614,2427 yes missense PITX1 NM_002653.4 60 311,2195,3997 GG,GC,CC 24.7907,15.547,21.6592 benign 299/315 134364518 2817,10189 2203 4300 6503 SO:0001583 missense AF009648 CCDS4182.1 5q31.1 2011-06-20 2007-07-12 ENSG00000069011 ENSG00000069011 5307 Homeoboxes / PRD class 9004 protein-coding gene gene with protein product 602149 paired-like homeodomain transcription factor 1 BFT NA 9337397, 9070926 Standard NM_002653 NA Approved PTX1, POTX uc010jea.3 P78337 OTTHUMG00000149983 ENST00000265340.7:c.896G>C chr5.hg19:g.134364518C>G ENSP00000265340:p.Gly299Ala NA A8K3M0|D3DQB0|O14677|O60425|Q9BTI5 hg19 CCDS4182.1 0.02 5.016276 AGGxCGC COVERED 695 0.3182234432234432 89 0.18089430894308944 110 0.30386740331491713 280 0.48951048951048953 216 0.2849604221635884 C 10.90 1.482622 0.26598 0.15547 0.247907 ENSG00000069011 ENST00000265340;ENST00000506438 D;D 0.88975 -2.45;-2.45 4.32 4.32 0.51571 . 0.269095 0.40818 N 0.001017 T 0.00012 0.0000 N 0.03154 -0.405 0.20307 P 0.9999179817 B 0.26363 0.147 B 0.25405 0.06 T 0.14896 -1.0456 9 0.10377 T 0.69 . 15.7942 0.78398 0.0:1.0:0.0:0.0 rs479632;rs17856095;rs479632 299 P78337 PITX1_HUMAN A 299 ENSP00000265340:G299A;ENSP00000427542:G299A ENSP00000265340:G299A G - 2 0 PITX1 134392417 1.000000 0.71417 1.000000 0.80357 0.800000 0.45204 7.423000 0.80229 1.954000 0.56735 0.462000 0.41574 GGC NOVEL PITX1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251195.3 2 15.483883 KEEP 0 1 36 64 2253 CC 1 0.999994 0 - 8 60 301 0 0 21.493791 102 60 3417 254 ENST00000265340.7 0.072727 0.999994 H2AFY 9555 __UNKNOWN__ __UNKNOWN__ 5 134691112 134691112 __UNKNOWN__ Intron SNP A A G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:134691112A>G ENST00000304332.4 - 6 757 H2AFY_ENST00000510038.1_Intron|CTC-349C3.1_ENST00000554670.1_3'UTR|H2AFY_ENST00000512507.1_5'UTR|H2AFY_ENST00000423969.2_Intron|H2AFY_ENST00000312469.4_Intron|H2AFY_ENST00000511689.1_Intron NM_004893.2 NP_004884.1 O75367 H2AY_HUMAN H2A histone family, member Y NA NA chromatin modification (GO:0016568)|dosage compensation (GO:0007549)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of cell cycle G2/M phase transition (GO:1902750)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of histone phosphorylation (GO:0033128)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|nucleosome assembly (GO:0006334) Barr body (GO:0001740)|condensed chromosome (GO:0000793)|extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleosome (GO:0000786)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|sex chromatin (GO:0001739) chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|rDNA binding (GO:0000182)|transcription regulatory region DNA binding (GO:0044212) endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1) 11 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TCTGTGGATGAGGCTAGAGCT 0.483 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF054174 CCDS4183.1, CCDS4184.1, CCDS4185.1 5q31.1 2011-01-27 ENSG00000113648 ENSG00000113648 9555 Histones / Replication-independent 4740 protein-coding gene gene with protein product 610054 NA 9653160, 9714746 Standard NM_004893 NM_004893 NA Approved macroH2A1.2 uc003lam.1 O75367 OTTHUMG00000129141 ENST00000304332.4:c.586-2377T>C chr5.hg19:g.134691112A>G NA O75377|Q503A8|Q7Z5E3|Q96D41|Q9H8P3|Q9UP96 hg19 CCDS4183.1 0.02 10.76343 ATGxGGC COVERED NOVEL H2AFY-004 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000371702.1 2 15.94661 KEEP 0 0 0 53 1657 AA 1 1 0 - 9 60 329 0 0 20.052894 262 60 9714 364 ENST00000304332.4 0.03321 1 TGFBI 7045 __UNKNOWN__ __UNKNOWN__ 5 135392324 135392324 __UNKNOWN__ Intron SNP A A G rs61160827 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:135392324A>G ENST00000442011.2 + 12 1708 TGFBI_ENST00000305126.8_Intron NM_000358.2 NP_000349.1 Q15582 BGH3_HUMAN transforming growth factor, beta-induced, 68kDa NA NA angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|response to stimulus (GO:0050896)|visual perception (GO:0007601) basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802) collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178) breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) ACCTGTTGACAGGTGACATTT 0.488 NA A||| 181 0.0361422 0.0696 0.0014 5008 , , NA 20876 0.0804 NA 0.0 False NA ,,, NA NA NA 2504 0.0072 NA NA NA NA 0 A 202,3786 7,188,1799 85 87 86 3.6 0 5 dbSNP_129 86 3,8371 0,3,4184 no intron TGFBI NM_000358.2 7,191,5983 GG,GA,AA 0.0358,5.0652,1.6583 135392324 205,12157 1994 4187 6181 SO:0001627 intron_variant M77349 CCDS47266.1 5q31 2008-02-05 2002-08-29 ENSG00000120708 ENSG00000120708 7045 11771 protein-coding gene gene with protein product 601692 transforming growth factor, beta-induced, 68kD CSD3, LCD1, CSD1, CSD2 NA 9463327 Standard NM_000358 NA Approved BIGH3, CDB1, CDGG1 uc003lbf.4 Q15582 OTTHUMG00000163213 ENST00000442011.2:c.1548-30A>G chr5.hg19:g.135392324A>G NA D3DQB1|O14471|O14472|O14476|O43216|O43217|O43218|O43219|Q53XM1 hg19 CCDS47266.1 0.02 2.447164 GACxGGT COVERED NOVEL TGFBI-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000372108.1 0 5.715776 KEEP 0 0 0 19 579 AA 0.99986 0.997758 0 + 4 60 142 0 0 9.379074 69 60 2496 108 ENST00000442011.2 0.054795 0.997898 TRPC7 57113 __UNKNOWN__ __UNKNOWN__ 5 135692575 135692575 __UNKNOWN__ Silent SNP G G A rs2546661 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:135692575G>A ENST00000513104.1 - 2 783 c.501C>T c.(499-501)ccC>ccT p.P167P TRPC7_ENST00000355180.3_Silent_p.P167P|TRPC7_ENST00000426057.2_Silent_p.P167P NM_020389.2 NP_065122.1 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, subfamily C, member 7 167 NA axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886) calcium channel activity (GO:0005262) NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3) 46 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CCAGGATGATGGGCGTGATGT 0.647 NA G||| 1346 0.26877 0.4312 0.2075 5008 , , NA 19100 0.3641 NA 0.164 False NA ,,, NA NA NA 2504 0.1022 NA NA NA NA 0 G ,, 1622,2784 481.4+/-359.1 283,1056,864 134 144 140 501,501,501 3.5 1 5 dbSNP_100 140 1368,7232 261.7+/-284.0 114,1140,3046 no coding-synonymous,coding-synonymous,coding-synonymous TRPC7 NM_001167576.1,NM_001167577.1,NM_020389.2 ,, 397,2196,3910 AA,AG,GG 15.907,36.8134,22.9894 ,, 167/747,167/802,167/863 135692575 2990,10016 2203 4300 6503 SO:0001819 synonymous_variant AJ272034 CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1 5q31.2 2011-12-14 ENSG00000069018 ENSG00000069018 57113 Voltage-gated ion channels / Transient receptor potential cation channels 20754 protein-coding gene gene with protein product NA 11805119, 16382100 Standard NM_020389 NM_020389 NA Approved uc003lbn.2 Q9HCX4 OTTHUMG00000162035 ENST00000513104.1:c.501C>T chr5.hg19:g.135692575G>A NA A1A4Z4|F5H5U9|Q70T26|Q8IWP7 hg19 CCDS47267.2 0.02 27.223782 GATxGGC COVERED 593 0.2715201465201465 220 0.44715447154471544 65 0.17955801104972377 182 0.3181818181818182 126 0.1662269129287599 G 9.734 1.163071 0.21538 0.368134 0.15907 ENSG00000069018 ENST00000352189;ENST00000378459;ENST00000502753 . . . 5.27 3.46 0.39613 . . . . . T 0.00012 0.0000 . . . 0.09310 P 1.0 . . . . . . T 0.47911 -0.9080 3 . . . -21.3621 4.6145 0.12418 0.2104:0.0:0.5183:0.2713 rs2546661;rs3777161;rs57153548;rs2546661 . . . Y 167 . . H - 1 0 TRPC7 135720474 0.998000 0.40836 1.000000 0.80357 0.997000 0.91878 0.481000 0.22260 0.762000 0.33152 0.655000 0.94253 CAT NOVEL TRPC7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000366975.1 3 40.918418 KEEP 0 0 0 136 4828 GG 1 1 0 - 17 60 631 0 0 36.513171 681 60 25788 1022 ENST00000513104.1 0.024355 1 NME5 8382 __UNKNOWN__ __UNKNOWN__ 5 137464283 137464283 __UNKNOWN__ Intron SNP G G C rs553388477 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:137464283G>C ENST00000265191.2 - 4 385 NME5_ENST00000508252.1_Intron NM_003551.2 NP_003542.1 P56597 NDK5_HUMAN NME/NM23 family member 5 NA NA cilium assembly (GO:0042384)|CTP biosynthetic process (GO:0006241)|epithelial cilium movement (GO:0003351)|GTP biosynthetic process (GO:0006183)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|nucleoside metabolic process (GO:0009116)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)|ventricular system development (GO:0021591) sperm flagellum (GO:0036126) ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550) kidney(1)|large_intestine(1)|lung(2)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) AAACAAGTTAGAGATGACGTC 0.383 NA G||| 2 0.000399361 0.0 0.0 5008 , , NA 19352 0.002 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 94 83 86 NA NA 5 NA 137464283 2203 4300 6503 SO:0001627 intron_variant Y14992 CCDS4197.1 5q31.2 2012-05-18 2012-05-18 ENSG00000112981 ENSG00000112981 8382 7853 protein-coding gene gene with protein product radial spoke 23 homolog (Chlamydomonas) 603575 non-metastatic cells 5, protein expressed in (nucleoside-diphosphate kinase) NA 9742940, 19852809 Standard NM_003551 NM_003551 NA Approved nm23-H5, RSPH23 uc003lce.3 P56597 OTTHUMG00000129207 ENST00000265191.2:c.336-15C>G chr5.hg19:g.137464283G>C NA B2R5G7 hg19 CCDS4197.1 0.02 15.395057 TTAxAGA COVERED NOVEL NME5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251286.1 2 15.951535 KEEP 0 0 0 53 1871 GG 1 1 0 - 11 60 417 0 0 25.495919 356 60 13527 492 ENST00000265191.2 0.029973 1 REEP2 51308 __UNKNOWN__ __UNKNOWN__ 5 137782335 137782335 __UNKNOWN__ 3'UTR SNP G G A rs1046576 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:137782335G>A ENST00000254901.5 + 0 1776 REEP2_ENST00000378339.2_3'UTR NM_016606.2 NP_057690.2 Q9BRK0 REEP2_HUMAN receptor accessory protein 2 NA NA cell death (GO:0008219)|endoplasmic reticulum tubular network organization (GO:0071786)|protein transport into membrane raft (GO:0032596)|regulation of intracellular transport (GO:0032386)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916) cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887) endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) CTGGACTCCCGTGCTCCTCAG 0.667 NA G||| 1849 0.369209 0.3404 0.5144 5008 , , NA 16070 0.2143 NA 0.4264 False NA ,,, NA NA NA 2504 0.4059 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK056193 CCDS4205.1, CCDS64259.1 5q31 2014-03-12 2006-02-07 2006-02-07 ENSG00000132563 ENSG00000132563 51308 Receptor accessory proteins 17975 protein-coding gene gene with protein product 609347 chromosome 5 open reading frame 19 C5orf19 NA 16271481, 15550249, 24388663 Standard NM_016606 NM_016606 NA Approved SGC32445, SPG72 uc003lda.4 Q9BRK0 OTTHUMG00000129205 ENST00000254901.5:c.*895G>A chr5.hg19:g.137782335G>A NA Q53EM8|Q9NYF2 hg19 CCDS4205.1 0.02 15.819291 CCCxTGC COVERED NOVEL REEP2-002 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000251284.1 3 8.732213 KEEP 0 3 94 62 2163 GG 1 1 0 + 21 60 775 0 0 52.094251 366 60 13205 568 ENST00000254901.5 0.054264 1 NRG2 9542 __UNKNOWN__ __UNKNOWN__ 5 139251346 139251346 __UNKNOWN__ Missense_Mutation SNP C C T rs188700714 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:139251346C>T ENST00000358522.3 - 4 1071 c.1072G>A c.(1072-1074)Gtc>Atc p.V358I NRG2_ENST00000340391.3_Missense_Mutation_p.V155I|NRG2_ENST00000289422.7_Missense_Mutation_p.V358I|NRG2_ENST00000518130.1_5'UTR|NRG2_ENST00000545385.1_Missense_Mutation_p.V358I|NRG2_ENST00000289409.4_Missense_Mutation_p.V358I|NRG2_ENST00000361474.1_Missense_Mutation_p.V358I|NRG2_ENST00000541337.1_Intron|NRG2_ENST00000394770.1_Missense_Mutation_p.V358I NM_013983.2 NP_053586.1 O14511 NRG2_HUMAN neuregulin 2 358 EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}. NA embryo development (GO:0009790)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|signal transduction (GO:0007165) extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) receptor binding (GO:0005102) p.V358I(1) breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 25 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TAGTAGCAGACGCCTCCATTG 0.572 NA C||| 15 0.00299521 0.0 0.0 5008 , , NA 20272 0.0149 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 1 Substitution - Missense(1) haematopoietic_and_lymphoid_tissue(1) 212 159 177 NA NA 5 NA 139251346 2203 4300 6503 SO:0001583 missense CCDS4217.1, CCDS54910.1 5q23-q33 2013-01-11 ENSG00000158458 ENSG00000158458 9542 Immunoglobulin superfamily / I-set domain containing 7998 protein-coding gene gene with protein product neural- and thymus-derived activator for ErbB kinases, divergent of neuregulin-1 603818 NA 9168114, 9168115 Standard NM_013982 NM_004883 NA Approved Don-1, NTAK, HRG2 uc003lev.2 O14511 OTTHUMG00000129241 ENST00000358522.3:c.1072G>A chr5.hg19:g.139251346C>T ENSP00000351323:p.Val358Ile NA hg19 CCDS4217.1 0.02 10.784678 AGAxGCC COVERED 4 0.0018315018315018315 0 0.0 0 0.0 4 0.006993006993006993 0 0.0 C 19.03 3.747463 0.69533 . . ENSG00000158458 ENST00000289422;ENST00000361474;ENST00000446269;ENST00000545385;ENST00000394770;ENST00000340391;ENST00000289409;ENST00000358522;ENST00000544729;ENST00000378238 T;T;T;T;T;T;T;T 0.42131 0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98 4.81 4.81 0.61882 Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1); 0.268821 0.30168 N 0.010256 T 0.35335 0.0928 N 0.25957 0.775 0.43421 D 0.995575 P;D;P;D 0.71674 0.92;0.998;0.608;0.997 B;P;B;P 0.53760 0.401;0.546;0.129;0.734 T 0.32587 -0.9901 10 0.49607 T 0.09 -21.9796 15.6633 0.77206 0.0:1.0:0.0:0.0 . 358;358;358;358 O14511-2;O14511;O14511-4;O14511-3 .;NRG2_HUMAN;.;. I 358;358;358;358;358;155;358;358;266;358 ENSP00000289422:V358I;ENSP00000354910:V358I;ENSP00000438753:V358I;ENSP00000378251:V358I;ENSP00000342660:V155I;ENSP00000289409:V358I;ENSP00000351323:V358I;ENSP00000367483:V358I ENSP00000289409:V358I V - 1 0 NRG2 139231530 1.000000 0.71417 1.000000 0.80357 0.915000 0.54546 5.162000 0.64942 2.218000 0.71995 0.462000 0.41574 GTC NOVEL NRG2-007 PUTATIVE basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000373995.1 3 24.189539 KEEP 0 1 33 92 3131 CC 1 1 0 - 10 60 360 0 0 22.093393 269 60 9640 478 ENST00000358522.3 0.035842 1 NRG2 9542 __UNKNOWN__ __UNKNOWN__ 5 139251469 139251469 __UNKNOWN__ Intron SNP T T G rs1800953 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:139251469T>G ENST00000358522.3 - 4 991 NRG2_ENST00000340391.3_Intron|NRG2_ENST00000289422.7_Intron|NRG2_ENST00000518130.1_Intron|NRG2_ENST00000545385.1_Intron|NRG2_ENST00000289409.4_Intron|NRG2_ENST00000361474.1_Intron|NRG2_ENST00000541337.1_Intron|NRG2_ENST00000394770.1_Intron NM_013983.2 NP_053586.1 O14511 NRG2_HUMAN neuregulin 2 NA NA embryo development (GO:0009790)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|signal transduction (GO:0007165) extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) receptor binding (GO:0005102) breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 25 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACTGAGACTATCCCTAGGCCC 0.587 NA T||| 1189 0.23742 0.3843 0.1527 5008 , , NA 19420 0.126 NA 0.163 False NA ,,, NA NA NA 2504 0.2904 NA NA NA NA 0 T ,,,, 1584,2822 492.9+/-362.5 302,980,921 79 63 69 ,,,, 2 0 5 dbSNP_89 69 1682,6918 308.8+/-309.1 170,1342,2788 no intron,intron,intron,intron,intron NRG2 NM_001184935.1,NM_004883.2,NM_013981.3,NM_013982.2,NM_013983.2 ,,,, 472,2322,3709 GG,GT,TT 19.5581,35.951,25.1115 ,,,, ,,,, 139251469 3266,9740 2203 4300 6503 SO:0001627 intron_variant CCDS4217.1, CCDS54910.1 5q23-q33 2013-01-11 ENSG00000158458 ENSG00000158458 9542 Immunoglobulin superfamily / I-set domain containing 7998 protein-coding gene gene with protein product neural- and thymus-derived activator for ErbB kinases, divergent of neuregulin-1 603818 NA 9168114, 9168115 Standard NM_013982 NM_004883 NA Approved Don-1, NTAK, HRG2 uc003lev.2 O14511 OTTHUMG00000129241 ENST00000358522.3:c.992-43A>C chr5.hg19:g.139251469T>G NA hg19 CCDS4217.1 0.02 13.045556 CTAxCCC COVERED NOVEL NRG2-007 PUTATIVE basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000373995.1 1 25.510397 KEEP 0 0 0 85 2626 TT 1 1 0 - 10 60 347 0 0 20.299506 330 60 12024 532 ENST00000358522.3 0.029412 1 CYSTM1 84418 __UNKNOWN__ __UNKNOWN__ 5 139574050 139574050 __UNKNOWN__ De_novo_Start_InFrame SNP G G A rs11538394 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:139574050G>A ENST00000261811.4 + 0 664 CYSTM1_ENST00000509789.2_Intron NM_032412.3 NP_115788.1 Q9H1C7 CYTM1_HUMAN cysteine-rich transmembrane module containing 1 NA NA extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) NA ACAGGTCCCCGATGAACCAAG 0.463 NA G||| 1031 0.205871 0.1331 0.2061 5008 , , NA 18391 0.2421 NA 0.2177 False NA ,,, NA NA NA 2504 0.2546 NA NA NA NA 0 G 497,3909 232.3+/-245.9 27,443,1733 117 117 117 1.4 0.8 5 dbSNP_120 117 1770,6830 320.9+/-314.9 189,1392,2719 no utr-5 C5orf32 NM_032412.3 216,1835,4452 AA,AG,GG 20.5814,11.2801,17.4304 139574050 2267,10739 2203 4300 6503 AJ245877 CCDS4221.1 5q31.3 2012-02-23 2012-02-23 2012-02-23 ENSG00000120306 ENSG00000120306 84418 30239 protein-coding gene gene with protein product chromosome 5 open reading frame 32 C5orf32 NA 19933165 Standard NM_032412 NM_032412 NA Approved ORF1-FL49 uc003lfd.3 Q9H1C7 OTTHUMG00000129243 ENST00000261811.4: chr5.hg19:g.139574050G>A NA Q8TBA5 hg19 CCDS4221.1 0.02 28.92873 CCCxATG COVERED NOVEL CYSTM1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251342.2 7 29.026497 KEEP 0 1 33 108 3657 GG 1 1 0 + 18 60 679 0 0 40.608923 645 60 22590 972 ENST00000261811.4 0.027149 1 PFDN1 5201 __UNKNOWN__ __UNKNOWN__ 5 139624864 139624864 __UNKNOWN__ 3'UTR SNP T T C rs7204 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:139624864T>C ENST00000261813.4 - 0 1111 PFDN1_ENST00000510217.1_3'UTR|CYSTM1_ENST00000509789.2_Intron|PFDN1_ENST00000514611.1_5'UTR NM_002622.4 NP_002613.2 O60925 PFD1_HUMAN prefoldin subunit 1 NA NA 'de novo' posttranslational protein folding (GO:0051084)|actin cytoskeleton organization (GO:0030036)|B cell activation (GO:0042113)|cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|cerebellum development (GO:0021549)|protein folding (GO:0006457)|regulation of transcription, DNA-templated (GO:0006355)|telencephalon development (GO:0021537) prefoldin complex (GO:0016272) sequence-specific DNA binding transcription factor activity (GO:0003700) endometrium(2)|large_intestine(3)|prostate(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCTTATGATATTGGCCAAAAG 0.517 NA t||| 1249 0.249401 0.2905 0.2176 5008 , , NA 20922 0.244 NA 0.2187 False NA ,,, NA NA NA 2504 0.2536 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Y17392 CCDS4222.1 5q31 2008-02-05 2006-02-24 ENSG00000113068 ENSG00000113068 5201 8866 protein-coding gene gene with protein product 604897 prefoldin 1 NA 9630229 Standard NM_002622 XM_005268465 NA Approved PFD1 uc003lff.1 O60925 OTTHUMG00000129249 ENST00000261813.4:c.*695A>G chr5.hg19:g.139624864T>C NA B2RD02|Q53F95|Q96EX6 hg19 CCDS4222.1 0.02 15.847859 ATAxTGG COVERED NOVEL PFDN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251354.3 5 39.413219 KEEP 0 0 0 131 4170 TT 1 1 0 - 12 60 448 0 0 27.673192 349 60 12657 599 ENST00000261813.4 0.033241 1 PFDN1 5201 __UNKNOWN__ __UNKNOWN__ 5 139624870 139624870 __UNKNOWN__ 3'UTR SNP A A G rs7203 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:139624870A>G ENST00000261813.4 - 0 1105 PFDN1_ENST00000510217.1_3'UTR|CYSTM1_ENST00000509789.2_Intron|PFDN1_ENST00000514611.1_5'UTR NM_002622.4 NP_002613.2 O60925 PFD1_HUMAN prefoldin subunit 1 NA NA 'de novo' posttranslational protein folding (GO:0051084)|actin cytoskeleton organization (GO:0030036)|B cell activation (GO:0042113)|cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|cerebellum development (GO:0021549)|protein folding (GO:0006457)|regulation of transcription, DNA-templated (GO:0006355)|telencephalon development (GO:0021537) prefoldin complex (GO:0016272) sequence-specific DNA binding transcription factor activity (GO:0003700) endometrium(2)|large_intestine(3)|prostate(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GATATTGGCCAAAAGGAGACA 0.532 NA a||| 1247 0.249002 0.2905 0.2176 5008 , , NA 20790 0.2421 NA 0.2187 False NA ,,, NA NA NA 2504 0.2536 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Y17392 CCDS4222.1 5q31 2008-02-05 2006-02-24 ENSG00000113068 ENSG00000113068 5201 8866 protein-coding gene gene with protein product 604897 prefoldin 1 NA 9630229 Standard NM_002622 XM_005268465 NA Approved PFD1 uc003lff.1 O60925 OTTHUMG00000129249 ENST00000261813.4:c.*689T>C chr5.hg19:g.139624870A>G NA B2RD02|Q53F95|Q96EX6 hg19 CCDS4222.1 0.02 14.590961 GCCxAAA COVERED NOVEL PFDN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251354.3 5 40.921433 KEEP 0 0 0 136 4207 AA 1 1 0 - 12 60 417 0 0 24.485019 356 60 13042 613 ENST00000261813.4 0.032609 1 PFDN1 5201 __UNKNOWN__ __UNKNOWN__ 5 139625347 139625347 __UNKNOWN__ 3'UTR SNP A A C rs9042 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:139625347A>C ENST00000261813.4 - 0 628 PFDN1_ENST00000524074.1_Intron|PFDN1_ENST00000510217.1_3'UTR|CYSTM1_ENST00000509789.2_Intron|PFDN1_ENST00000514611.1_5'UTR NM_002622.4 NP_002613.2 O60925 PFD1_HUMAN prefoldin subunit 1 NA NA 'de novo' posttranslational protein folding (GO:0051084)|actin cytoskeleton organization (GO:0030036)|B cell activation (GO:0042113)|cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|cerebellum development (GO:0021549)|protein folding (GO:0006457)|regulation of transcription, DNA-templated (GO:0006355)|telencephalon development (GO:0021537) prefoldin complex (GO:0016272) sequence-specific DNA binding transcription factor activity (GO:0003700) endometrium(2)|large_intestine(3)|prostate(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAGAGGGAAGAGTGTCCTGGG 0.582 NA a||| 1036 0.206869 0.1346 0.2061 5008 , , NA 20910 0.244 NA 0.2187 False NA ,,, NA NA NA 2504 0.2546 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Y17392 CCDS4222.1 5q31 2008-02-05 2006-02-24 ENSG00000113068 ENSG00000113068 5201 8866 protein-coding gene gene with protein product 604897 prefoldin 1 NA 9630229 Standard NM_002622 XM_005268465 NA Approved PFD1 uc003lff.1 O60925 OTTHUMG00000129249 ENST00000261813.4:c.*212T>G chr5.hg19:g.139625347A>C NA B2RD02|Q53F95|Q96EX6 hg19 CCDS4222.1 0.02 4.29498 AAGxGTG COVERED NOVEL PFDN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251354.3 3 16.814365 KEEP 0 0 0 56 1716 AA 1 0.999995 0 - 6 60 197 0 0 12.444161 105 60 3740 188 ENST00000261813.4 0.054054 0.999995 TMCO6 55374 __UNKNOWN__ __UNKNOWN__ 5 140021858 140021858 __UNKNOWN__ Intron SNP A A T rs12153256 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:140021858A>T ENST00000394671.3 + 5 599 TMCO6_ENST00000252100.6_Intron|NDUFA2_ENST00000510680.1_Intron|TMCO6_ENST00000537378.1_Intron|TMCO6_ENST00000511410.1_3'UTR NM_018502.3 NP_060972.3 Q96DC7 TMCO6_HUMAN transmembrane and coiled-coil domains 6 NA NA protein import into nucleus (GO:0006606) cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634) protein transporter activity (GO:0008565) breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1) 9 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCAGCCTGGCATGAAACAGGC 0.582 NA A||| 1194 0.238419 0.1891 0.2248 5008 , , NA 19557 0.2966 NA 0.2455 False NA ,,, NA NA NA 2504 0.2474 NA NA NA NA 0 A 686,3392 67,552,1420 42 45 44 -5.7 0 5 dbSNP_120 44 1994,6410 246,1502,2454 no intron TMCO6 NM_018502.3 313,2054,3874 TT,TA,AA 23.7268,16.822,21.4709 140021858 2680,9802 2039 4202 6241 SO:0001627 intron_variant BC001910 CCDS4233.2, CCDS75320.1 5q31.3 2008-11-06 ENSG00000113119 ENSG00000113119 55374 28814 protein-coding gene gene with protein product NA 12477932 Standard NM_018502 XM_005268476 NA Approved FLJ39769, PRO1580 uc003lgl.3 Q96DC7 OTTHUMG00000129497 ENST00000394671.3:c.499-42A>T chr5.hg19:g.140021858A>T NA Q9BUU0|Q9P198 hg19 CCDS4233.2 0.02 12.647852 GGCxTGA COVERED NOVEL TMCO6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251666.2 0 22.863793 KEEP 0 0 0 76 2322 AA 1 1 0 + 10 60 366 0 0 22.097965 307 60 11021 447 ENST00000394671.3 0.031546 1 IK 3550 __UNKNOWN__ __UNKNOWN__ 5 140031537 140031537 __UNKNOWN__ Intron SNP G G A rs1583005 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:140031537G>A ENST00000417647.2 + 4 315 IK_ENST00000523672.1_Intron NM_006083.3 NP_006074.2 Q13123 RED_HUMAN IK cytokine, down-regulator of HLA II NA NA cell-cell signaling (GO:0007267)|immune response (GO:0006955) extracellular space (GO:0005615)|nucleus (GO:0005634) identical protein binding (GO:0042802) large_intestine(1) 1 all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACAAATATTGGTGTGGATTTC 0.378 NA A||| 2037 0.406749 0.3752 0.3429 5008 , , NA 19085 0.4484 NA 0.4095 False NA ,,, NA NA NA 2504 0.4489 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC051295 CCDS47280.1 5q31.3 2008-08-07 ENSG00000113141 ENSG00000113141 3550 5958 protein-coding gene gene with protein product 600549 NA 7970704 Standard NM_006083 NM_006083 NA Approved uc003lgq.3 Q13123 OTTHUMG00000163374 ENST00000417647.2:c.177-136G>A chr5.hg19:g.140031537G>A NA Q6IPD8 hg19 CCDS47280.1 0.02 3.856749 TTGxTGT COVERED NOVEL IK-001 KNOWN non_canonical_conserved|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000372897.1 2 4.755601 KEEP 0 1 14 21 707 GG 0.999879 0.999879 0 + 5 60 179 0 0 10.939643 134 60 4993 166 ENST00000417647.2 0.035971 1 IK 3550 __UNKNOWN__ __UNKNOWN__ 5 140032854 140032854 __UNKNOWN__ Intron SNP A A C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:140032854A>C ENST00000417647.2 + 5 543 NM_006083.3 NP_006074.2 Q13123 RED_HUMAN IK cytokine, down-regulator of HLA II NA NA cell-cell signaling (GO:0007267)|immune response (GO:0006955) extracellular space (GO:0005615)|nucleus (GO:0005634) identical protein binding (GO:0042802) large_intestine(1) 1 all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCATTTGCCACCCACAAAGG 0.483 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC051295 CCDS47280.1 5q31.3 2008-08-07 ENSG00000113141 ENSG00000113141 3550 5958 protein-coding gene gene with protein product 600549 NA 7970704 Standard NM_006083 NM_006083 NA Approved uc003lgq.3 Q13123 OTTHUMG00000163374 ENST00000417647.2:c.404+125A>C chr5.hg19:g.140032854A>C NA Q6IPD8 hg19 CCDS47280.1 0.02 1.552252 GCCxCCC COVERED NOVEL IK-001 KNOWN non_canonical_conserved|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000372897.1 5 2.459038 KEEP 0 5 33 21 584 AA 0.999957 0.999956 0 + 20 60 225 0 0 9.263898 103 60 3220 189 ENST00000417647.2 0.162602 0.999999 IK 3550 __UNKNOWN__ __UNKNOWN__ 5 140037272 140037272 __UNKNOWN__ Intron SNP G G A rs778596 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:140037272G>A ENST00000417647.2 + 10 1049 NM_006083.3 NP_006074.2 Q13123 RED_HUMAN IK cytokine, down-regulator of HLA II NA NA cell-cell signaling (GO:0007267)|immune response (GO:0006955) extracellular space (GO:0005615)|nucleus (GO:0005634) identical protein binding (GO:0042802) large_intestine(1) 1 all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGAGAGAGAAGCCTTACCCAC 0.483 NA A||| 2091 0.417532 0.3843 0.3631 5008 , , NA 16758 0.4524 NA 0.4314 False NA ,,, NA NA NA 2504 0.4509 NA NA NA NA 0 A 1404,2310 264,876,717 66 59 61 0.3 0 5 dbSNP_86 61 3595,4611 788,2019,1296 no intron IK NM_006083.3 1052,2895,2013 AA,AG,GG 43.8094,37.8029,41.9379 140037272 4999,6921 1857 4103 5960 SO:0001627 intron_variant BC051295 CCDS47280.1 5q31.3 2008-08-07 ENSG00000113141 ENSG00000113141 3550 5958 protein-coding gene gene with protein product 600549 NA 7970704 Standard NM_006083 NM_006083 NA Approved uc003lgq.3 Q13123 OTTHUMG00000163374 ENST00000417647.2:c.910+25G>A chr5.hg19:g.140037272G>A NA Q6IPD8 hg19 CCDS47280.1 0.02 5.952883 GAAxCCT COVERED NOVEL IK-001 KNOWN non_canonical_conserved|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000372897.1 0 9.39421 KEEP 0 2 59 52 1875 GG 1 1 0 + 8 60 280 0 0 18.007856 153 60 5781 263 ENST00000417647.2 0.049689 1 ZMAT2 153527 __UNKNOWN__ __UNKNOWN__ 5 140086191 140086191 __UNKNOWN__ 3'UTR SNP G G T rs6849 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:140086191G>T ENST00000274712.3 + 0 1577 NM_144723.1 NP_653324.1 Q96NC0 ZMAT2_HUMAN zinc finger, matrin-type 2 NA NA nucleus (GO:0005634) DNA binding (GO:0003677)|zinc ion binding (GO:0008270) breast(2)|kidney(2)|large_intestine(1)|liver(1)|lung(2) 8 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGGGAGCCCGTCGGTCTTAG 0.373 NA N||| 2089 0.417133 0.3835 0.3631 5008 , , NA 18420 0.4514 NA 0.4314 False NA ,,, NA NA NA 2504 0.4509 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK055683 CCDS4239.1 5q31 2012-10-05 2010-09-15 ENSG00000146007 ENSG00000146007 153527 Zinc fingers, matrin-type 26433 protein-coding gene gene with protein product NA 12477932 Standard NM_144723 NM_144723 NA Approved FLJ31121, hSNU23, Snu23 uc003lgy.1 Q96NC0 OTTHUMG00000129503 ENST00000274712.3:c.*850G>T chr5.hg19:g.140086191G>T NA hg19 CCDS4239.1 0.02 2.010929 CCCxTCG COVERED NOVEL ZMAT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000468143.1 1 6.32053 KEEP 0 0 0 21 742 GG 0.999869 0.999832 0 + 5 60 195 0 0 13.268144 95 60 3288 142 ENST00000274712.3 0.05 0.999962 PCDHA6 56142 __UNKNOWN__ __UNKNOWN__ 5 140208884 140208884 __UNKNOWN__ Missense_Mutation SNP A A C rs17844301 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:140208884A>C ENST00000529310.1 + 1 1322 c.1208A>C c.(1207-1209)aAt>aCt p.N403T PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.N403T|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron NM_018909.2|NM_031848.2|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 Q9UN73 PCDA6_HUMAN protocadherin alpha 6 403 Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}. NA cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399) extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887) calcium ion binding (GO:0005509) NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACCTTCAAGAATTACTACTCG 0.607 NA .||| 30 0.00599042 0.0 0.0 5008 , , NA 21282 0.0298 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 156 151 153 NA NA 5 NA 140208884 2203 4300 6503 SO:0001583 missense AF152484 CCDS47281.1, CCDS47282.1 5q31 2010-11-26 ENSG00000081842 ENSG00000081842 56142 Cadherins / Protocadherins : Clustered 8672 other complex locus constituent KIAA0345-like 8 606312 CNRS2 NA 10380929, 10662547 Standard NM_018909 NM_018909 NA Approved CNR2, CRNR2, PCDH-ALPHA6 Q9UN73 OTTHUMG00000163353 ENST00000529310.1:c.1208A>C chr5.hg19:g.140208884A>C ENSP00000433378:p.Asn403Thr NA O75283|Q9NRT8 hg19 CCDS47281.1 0.02 13.517091 AGAxTTA COVERED 19 0.0086996336996337 0 0.0 0 0.0 19 0.033216783216783216 0 0.0 A 12.86 2.065784 0.36470 . . ENSG00000081842 ENST00000529310;ENST00000527624 T;T 0.01685 4.69;4.69 3.7 3.7 0.42460 Cadherin (4);Cadherin-like (1); 0.000000 0.39146 U 0.001460 T 0.02888 0.0086 M 0.85373 2.75 0.22745 N 0.998782 D;D;D 0.89917 0.987;0.996;1.0 P;D;D 0.85130 0.872;0.969;0.997 T 0.02144 -1.1206 10 0.87932 D 0 . 8.0946 0.30820 0.8899:0.0:0.1101:0.0 rs17844301 403;403;403 Q9UN73-3;Q9UN73;Q9UN73-2 .;PCDA6_HUMAN;. T 403 ENSP00000433378:N403T;ENSP00000434113:N403T ENSP00000434113:N403T N + 2 0 PCDHA6 140189068 0.030000 0.19436 0.996000 0.52242 0.498000 0.33706 2.470000 0.45119 1.669000 0.50854 0.260000 0.18958 AAT NOVEL PCDHA6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000372829.3 4 12.331849 KEEP 13 0 0 41 1228 AA 1 1 0 + 17 60 643 0 0 43.040664 326 60 11597 422 ENST00000529310.1 0.049563 1 PCDHA13 56136 __UNKNOWN__ __UNKNOWN__ 5 140347064 140347064 __UNKNOWN__ Intron SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:140347064C>T ENST00000409494.1 + 2 2455 PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHAC2_ENST00000289269.5_Missense_Mutation_p.S238L|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron NM_031865.1 NP_114071.1 Q9Y5I0 PCDAD_HUMAN protocadherin alpha 13 NA NA homophilic cell adhesion (GO:0007156) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCAGCCCGCTCGGGTACGGCA 0.612 NA NA NA NA NA NA NA NA NA NA Melanoma(147;1739 1852 5500 27947 37288) NA 0 57 57 57 NA NA 5 NA 140347064 2203 4300 6503 SO:0001627 intron_variant AF152478 CCDS4240.1 5q31 2010-11-26 ENSG00000239389 ENSG00000239389 56136 Cadherins / Protocadherins : Clustered 8667 other complex locus constituent KIAA0345-like 1, ortholog of mouse CNR5 606319 CNRS5 NA 10380929, 10662547 Standard NM_018904 NM_018904 NA Approved CNR5, CRNR5, CNRN5, PCDH-ALPHA13 Q9Y5I0 OTTHUMG00000129614 ENST00000409494.1:c.2395-11470C>T chr5.hg19:g.140347064C>T NA O75277 hg19 0.02 21.298663 GCTxGGG COVERED . . . . . . . . . . C 19.64 3.865129 0.71949 . . ENSG00000243232 ENST00000289269 T 0.55588 0.51 5.72 5.72 0.89469 Cadherin (4);Cadherin-like (1); 0.000000 0.36703 N 0.002441 T 0.78323 0.4265 M 0.90542 3.125 0.49687 D 0.999816 D;D 0.71674 0.997;0.998 P;D 0.65773 0.809;0.938 T 0.82337 -0.0507 10 0.87932 D 0 . 19.8805 0.96895 0.0:1.0:0.0:0.0 . 238;238 Q9Y5I4-2;Q9Y5I4 .;PCDC2_HUMAN L 238 ENSP00000289269:S238L ENSP00000289269:S238L S + 2 0 PCDHAC2 140327248 1.000000 0.71417 0.966000 0.40874 0.947000 0.59692 7.772000 0.85439 2.713000 0.92767 0.561000 0.74099 TCG NOVEL PCDHA13-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000251809.2 1 19.25968 KEEP 0 0 0 64 2154 CC 1 1 0 + 13 60 483 0 0 28.228154 497 60 17932 672 ENST00000409494.1 0.02549 1 PCDHB8 56128 __UNKNOWN__ __UNKNOWN__ 5 140559058 140559058 __UNKNOWN__ Silent SNP G G A rs17844495 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:140559058G>A ENST00000239444.2 + 1 1688 c.1443G>A c.(1441-1443)tcG>tcA p.S481S NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN protocadherin beta 8 481 Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}. NA homophilic cell adhesion (GO:0007156) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACAGAGACTCGGGCACCAACG 0.662 NA NA NA NA NA NA NA NA NA NA NA 0 85 131 115 NA NA 5 NA 140559058 2203 4296 6499 SO:0001819 synonymous_variant AF152501 CCDS4250.1 5q31 2010-01-26 ENSG00000120322 ENSG00000120322 56128 Cadherins / Protocadherins : Clustered 8693 other protocadherin 606334 NA 10380929 Standard NM_019120 NM_019120 NA Approved PCDH-BETA8, PCDH3I uc011dai.2 Q9UN66 OTTHUMG00000129621 ENST00000239444.2:c.1443G>A chr5.hg19:g.140559058G>A NA B9EGV1 hg19 CCDS4250.1 0.02 2.129688 CTCxGGC COVERED NOVEL PCDHB8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251816.2 0 3.911765 KEEP 1 0 0 13 411 GG 0.994391 0.993094 0 + 17 40 606 0 0 51.280077 58 60 2021 95 ENST00000239444.2 0.226667 0.998696 PCDHB8 56128 __UNKNOWN__ __UNKNOWN__ 5 140559103 140559103 __UNKNOWN__ Silent SNP T T C rs17844497 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:140559103T>C ENST00000239444.2 + 1 1733 c.1488T>C c.(1486-1488)gaT>gaC p.D496D NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN protocadherin beta 8 496 Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}. NA homophilic cell adhesion (GO:0007156) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGCCCCAGGATCCGCACCTGC 0.662 NA NA NA NA NA NA NA NA NA NA NA 0 C 318,4088 31,256,1916 108 166 146 1488 1.7 0 5 dbSNP_123 146 684,7916 112,460,3728 no coding-synonymous PCDHB8 NM_019120.3 143,716,5644 CC,CT,TT 7.9535,7.2174,7.7041 496/802 140559103 1002,12004 2203 4300 6503 SO:0001819 synonymous_variant AF152501 CCDS4250.1 5q31 2010-01-26 ENSG00000120322 ENSG00000120322 56128 Cadherins / Protocadherins : Clustered 8693 other protocadherin 606334 NA 10380929 Standard NM_019120 NM_019120 NA Approved PCDH-BETA8, PCDH3I uc011dai.2 Q9UN66 OTTHUMG00000129621 ENST00000239444.2:c.1488T>C chr5.hg19:g.140559103T>C NA B9EGV1 hg19 CCDS4250.1 0.02 2.352349 GGAxCCG COVERED NOVEL PCDHB8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251816.2 0 4.814172 KEEP 2 0 0 16 486 TT 0.997832 0.987397 0 + 13 40 454 0 0 37.880136 48 60 1642 102 ENST00000239444.2 0.213115 0.989542 PCDHB16 57717 __UNKNOWN__ __UNKNOWN__ 5 140561768 140561768 __UNKNOWN__ 5'UTR SNP C C T rs2740584 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:140561768C>T ENST00000361016.2 + 0 789 NM_020957.1 NP_066008.1 Q9NRJ7 PCDBG_HUMAN protocadherin beta 16 NA NA calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1) 69 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCACAGAGCTCCATCTGTATA 0.323 NA C||| 1673 0.334065 0.2504 0.3516 5008 , , NA 21225 0.5278 NA 0.2475 False NA ,,, NA NA NA 2504 0.3241 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF217757 CCDS4251.1 5q31 2014-04-11 ENSG00000196963 57717 Cadherins / Protocadherins : Clustered 14546 other protocadherin cadherin ME1, protocadherin-3x, PCDHbeta 16 606345 NA 11230163, 11322959 Standard NM_020957 NM_020957 NA Approved PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1 uc003liv.3 Q9NRJ7 OTTHUMG00000188325 ENST00000361016.2:c.-367C>T chr5.hg19:g.140561768C>T NA B3KPK5|Q8IYD5|Q96SE9|Q9HCF1 hg19 CCDS4251.1 0.02 11.994048 GCTxCAT COVERED NOVEL PCDHB16-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251800.1 4 14.747533 KEEP 0 0 0 49 1724 CC 1 1 0 + 9 60 330 0 0 19.18371 337 60 12500 491 ENST00000361016.2 0.026012 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 5 140568026 140568026 __UNKNOWN__ IGR SNP T T C rs2697531 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:140568026T>C NA NA PCDHB16 (2233 upstream) : PCDHB10 (3915 downstream) NA NA NA CCGGAGAAAATGGAAAGACAT 0.383 NA T||| 1356 0.270767 0.0492 0.3069 5008 , , NA 18208 0.5268 NA 0.2326 False NA ,,, NA NA NA 2504 0.32 NA NA NA NA 0 T 244,4132 11,222,1955 66 71 70 1134 -6.2 0.6 5 dbSNP_100 70 1889,6707 210,1469,2619 no coding-synonymous PCDHB9 NM_019119.3 221,1691,4574 CC,CT,TT 21.9753,5.5759,16.4431 378/798 140568026 2133,10839 2188 4298 6486 SO:0001628 intergenic_variant NA NA NA NA chr5.hg19:g.140568026T>C NA hg19 0.02 14.0939 AAAxGGA COVERED NOVEL 0 2 14.17501 KEEP 0 1 31 58 1804 TT 1 1 0 14 60 488 0 0 29.477896 365 70 13269 515 0.036939 1 ARAP3 64411 __UNKNOWN__ __UNKNOWN__ 5 141036337 141036337 __UNKNOWN__ Silent SNP A A G rs7703648 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:141036337A>G ENST00000508305.1 - 25 3345 c.3096T>C c.(3094-3096)gcT>gcC p.A1032A ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000239440.4_Silent_p.A1201A|ARAP3_ENST00000513878.1_Silent_p.A863A Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 1201 Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}. NA cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726) ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270) p.A1201A(1) NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1) 53 AGAGCAGGGAAGCTGAGCAGG 0.577 NA G||| 2411 0.48143 0.7065 0.4885 5008 , , NA 18041 0.3889 NA 0.4314 False NA ,,, NA NA NA 2504 0.319 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) G 2873,1533 476.8+/-357.7 935,1003,265 40 40 40 3603 -0.1 1 5 dbSNP_116 40 3475,5125 626.4+/-397.8 733,2009,1558 no coding-synonymous ARAP3 NM_022481.5 1668,3012,1823 GG,GA,AA 40.407,34.7935,48.8082 1201/1545 141036337 6348,6658 2203 4300 6503 SO:0001819 synonymous_variant AJ310567 CCDS4266.1 5q31.3 2013-01-11 2008-09-22 2008-09-22 ENSG00000120318 ENSG00000120318 64411 ADP-ribosylation factor GTPase activating proteins, Sterile alpha motif (SAM) domain containing, Pleckstrin homology (PH) domain containing, Ankyrin repeat domain containing 24097 protein-coding gene gene with protein product 606647 centaurin, delta 3 CENTD3 NA 11804589, 12015138 Standard NM_022481 XM_005268497 NA Approved FLJ21065, DRAG1 uc003llm.3 Q8WWN8 OTTHUMG00000129610 ENST00000508305.1:c.3096T>C chr5.hg19:g.141036337A>G NA B4DIT1|D3DQE3 hg19 0.02 9.332439 GGAxGCT COVERED NOVEL ARAP3-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000373653.2 1 9.028146 KEEP 0 0 0 30 966 AA 0.999997 0.999997 0 - 10 60 385 0 0 25.412283 220 60 8065 303 ENST00000508305.1 0.043478 1 ARAP3 64411 __UNKNOWN__ __UNKNOWN__ 5 141059868 141059868 __UNKNOWN__ 5'UTR SNP T T C rs11167756 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:141059868T>C ENST00000508305.1 - 0 201 ARAP3_ENST00000239440.4_Silent_p.L62L Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 NA NA cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726) ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270) NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1) 53 TGCCTGTCTGTAGCAGGCGTA 0.652 NA C||| 2332 0.465655 0.4493 0.4942 5008 , , NA 15776 0.4683 NA 0.4274 False NA ,,, NA NA NA 2504 0.5041 NA NA NA NA 0 C 1957,2449 619.1+/-393.3 439,1079,685 83 88 87 186 0.2 0.9 5 dbSNP_120 87 3613,4987 625.1+/-397.7 778,2057,1465 yes coding-synonymous ARAP3 NM_022481.5 1217,3136,2150 CC,CT,TT 42.0116,44.4167,42.8264 62/1545 141059868 5570,7436 2203 4300 6503 SO:0001623 5_prime_UTR_variant AJ310567 CCDS4266.1 5q31.3 2013-01-11 2008-09-22 2008-09-22 ENSG00000120318 ENSG00000120318 64411 ADP-ribosylation factor GTPase activating proteins, Sterile alpha motif (SAM) domain containing, Pleckstrin homology (PH) domain containing, Ankyrin repeat domain containing 24097 protein-coding gene gene with protein product 606647 centaurin, delta 3 CENTD3 NA 11804589, 12015138 Standard NM_022481 XM_005268497 NA Approved FLJ21065, DRAG1 uc003llm.3 Q8WWN8 OTTHUMG00000129610 ENST00000508305.1:c.-49A>G chr5.hg19:g.141059868T>C NA B4DIT1|D3DQE3 hg19 0.02 18.473831 CTGxAGC COVERED NOVEL ARAP3-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000373653.2 4 40.013269 KEEP 0 0 0 133 3984 TT 1 1 0 - 16 60 601 0 0 38.163105 408 60 14260 692 ENST00000508305.1 0.037736 1 PCDH12 51294 __UNKNOWN__ __UNKNOWN__ 5 141335498 141335498 __UNKNOWN__ Missense_Mutation SNP C C T rs164515 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:141335498C>T ENST00000231484.3 - 1 3129 c.1919G>A c.(1918-1920)aGt>aAt p.S640N NM_016580.2 NP_057664.1 Q9NPG4 PCD12_HUMAN protocadherin 12 640 Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}. NA S -> N (in dbSNP:rs164515). {ECO:0000269|PubMed:12975309, ECO:0000269|PubMed:14702039}. calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038) cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1) 38 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCATTTCCACTGCGGATGCT 0.567 NA C||| 751 0.14996 0.0227 0.196 5008 , , NA 19319 0.127 NA 0.2664 False NA ,,, NA NA NA 2504 0.1933 NA NA NA NA 0 C ASN/SER 311,4095 165.4+/-196.9 11,289,1903 75 68 70 1919 2.7 0 5 dbSNP_79 70 2567,6033 418.0+/-352.6 388,1791,2121 yes missense PCDH12 NM_016580.2 46 399,2080,4024 TT,TC,CC 29.8488,7.0586,22.1282 benign 640/1185 141335498 2878,10128 2203 4300 6503 SO:0001583 missense AF231025 CCDS4269.1 5q31.3 2010-01-26 ENSG00000113555 ENSG00000113555 51294 Cadherins / Protocadherins : Non-clustered 8657 protein-coding gene gene with protein product 605622 NA 10716726, 10380929 Standard NM_016580 NM_016580 NA Approved VE-cadherin-2 uc003llx.3 Q9NPG4 OTTHUMG00000129658 ENST00000231484.3:c.1919G>A chr5.hg19:g.141335498C>T ENSP00000231484:p.Ser640Asn NA Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0 hg19 CCDS4269.1 0.02 21.784836 CCAxTGC COVERED 370 0.16941391941391942 17 0.034552845528455285 81 0.22375690607734808 71 0.12412587412587413 201 0.26517150395778366 C 0.015 -1.564822 0.00903 0.070586 0.298488 ENSG00000113555 ENST00000231484 D 0.83250 -1.7 5.38 2.7 0.31948 Cadherin (4);Cadherin-like (1); 0.728565 0.14492 N 0.316263 T 0.00012 0.0000 L 0.42245 1.32 0.80722 P 0.0 B 0.02656 0.0 B 0.06405 0.002 T 0.04153 -1.0973 9 0.31617 T 0.26 . 4.9107 0.13820 0.0:0.5982:0.1535:0.2483 rs164515;rs3747721;rs17208628;rs58835966;rs164515 640 Q9NPG4 PCD12_HUMAN N 640 ENSP00000231484:S640N ENSP00000231484:S640N S - 2 0 PCDH12 141315682 0.000000 0.05858 0.001000 0.08648 0.036000 0.12997 0.609000 0.24238 0.424000 0.26061 -0.136000 0.14681 AGT NOVEL PCDH12-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251858.1 2 24.077546 KEEP 0 0 0 80 2876 CC 1 1 0 - 27 60 984 0 0 65.648031 474 60 17709 689 ENST00000231484.3 0.053892 1 SPRY4 81848 __UNKNOWN__ __UNKNOWN__ 5 141690819 141690819 __UNKNOWN__ 3'UTR SNP G G A rs3797053 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:141690819G>A ENST00000344120.4 - 0 4110 NM_030964.3 NP_112226.2 Q9C004 SPY4_HUMAN sprouty homolog 4 (Drosophila) NA NA multicellular organismal development (GO:0007275)|negative regulation of MAP kinase activity (GO:0043407) cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1) 18 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGTGCTCGCGGAAGCGCTGT 0.587 NA Testicular Cancer, Familial Clustering of g||| 1485 0.296526 0.0991 0.2839 5008 , , NA 17718 0.6052 NA 0.2674 False NA ,,, NA NA NA 2504 0.2843 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Familial Cancer Database AF227516 CCDS4274.1, CCDS47296.1 5q31.3 2010-08-05 ENSG00000187678 ENSG00000187678 81848 15533 protein-coding gene gene with protein product 607984 NA 16465403 Standard NM_030964 NA Approved uc010jgi.1 Q9C004 OTTHUMG00000129663 ENST00000344120.4:c.*2955C>T chr5.hg19:g.141690819G>A NA A4FVB2|A4FVB3|Q6QIX2|Q9C003 hg19 CCDS4274.1 0.02 11.958214 CGCxGAA COVERED NOVEL SPRY4-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000251864.1 2 4.282321 KEEP 0 2 62 36 1207 GG 1 1 0 - 14 60 535 0 0 36.512539 246 70 8321 336 ENST00000344120.4 0.053846 1 FGF1 2246 __UNKNOWN__ __UNKNOWN__ 5 141974082 141974082 __UNKNOWN__ 3'UTR SNP C C G rs2278688 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:141974082C>G ENST00000359370.6 - 0 1320 AC005592.2_ENST00000443800.1_RNA|AC005592.2_ENST00000414314.1_RNA|FGF1_ENST00000378046.1_3'UTR NM_000800.4|NM_001144892.2|NM_001144934.1|NM_001144935.1|NM_001257205.1|NM_001257206.1|NM_001257207.1|NM_001257210.1|NM_001257212.1|NM_033137.2 NP_000791.1|NP_001138364.1|NP_001138406.1|NP_001138407.1|NP_001244134.1|NP_001244135.1|NP_001244136.1|NP_001244139.1|NP_001244141.1|NP_149128.1 P05230 FGF1_HUMAN fibroblast growth factor 1 (acidic) NA NA anatomical structure morphogenesis (GO:0009653)|angiogenesis (GO:0001525)|branch elongation involved in ureteric bud branching (GO:0060681)|cell differentiation (GO:0030154)|cellular response to heat (GO:0034605)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mesonephric epithelium development (GO:0072163)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165) cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634) fibroblast growth factor receptor binding (GO:0005104)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|S100 protein binding (GO:0044548) large_intestine(1)|lung(2) 3 all_neural(839;0.0416)|Ovarian(839;0.0955)|all_hematologic(541;0.1)|Prostate(461;0.157)|Lung NSC(810;0.21) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.00032) Amlexanox(DB01025)|Pazopanib(DB06589)|Pentosan Polysulfate(DB00686) GTCCCCAGATCCACATGAATT 0.473 NA C||| 1133 0.226238 0.3457 0.17 5008 , , NA 20567 0.2907 NA 0.1203 False NA ,,, NA NA NA 2504 0.1472 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X59065 CCDS4275.1, CCDS4276.1 5q31.3-q33.2 2014-01-30 ENSG00000113578 ENSG00000113578 2246 Endogenous ligands 3665 protein-coding gene gene with protein product heparin-binding growth factor 1, endothelial cell growth factor, alpha, endothelial cell growth factor, beta 131220 FGFA NA 1697263, 3523756 Standard NM_000800 NM_033137 NA Approved AFGF, ECGF, ECGFA, ECGFB, HBGF1, ECGF-beta, FGF-alpha, GLIO703 uc031slo.1 P05230 OTTHUMG00000059703 ENST00000359370.6:c.*773G>C chr5.hg19:g.141974082C>G NA B2R5T0|D3DQF2|P07502|Q16588 hg19 CCDS4275.1 0.02 13.164494 GATxCAC COVERED NOVEL FGF1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000132735.2 2 15.650624 KEEP 0 0 0 52 1825 CC 1 1 0 - 10 60 376 0 0 22.817593 328 60 11980 481 ENST00000359370.6 0.029586 1 ARHGAP26 23092 __UNKNOWN__ __UNKNOWN__ 5 142254679 142254679 __UNKNOWN__ Silent SNP A A G rs185200 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:142254679A>G ENST00000274498.4 + 3 633 c.255A>G c.(253-255)agA>agG p.R85R ARHGAP26_ENST00000378004.3_Silent_p.R85R NM_015071.4 NP_055886.1 Q9UNA1 RHG26_HUMAN Rho GTPase activating protein 26 85 NA actin cytoskeleton organization (GO:0030036)|filopodium assembly (GO:0046847)|nervous system development (GO:0007399)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829) phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100) autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1) 25 all_hematologic(541;0.0416) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTCCAGCAAGATCTTTGCAGG 0.483 NA G||| 3374 0.673722 0.8979 0.5058 5008 , , NA 19158 0.8581 NA 0.3091 False NA ,,, NA NA NA 2504 0.6748 NA NA NA NA 0 G , 3440,966 362.4+/-316.1 1350,740,113 114 103 107 255,255 2.6 1 5 dbSNP_79 107 2569,6031 690.7+/-404.5 378,1813,2109 no coding-synonymous,coding-synonymous ARHGAP26 NM_001135608.1,NM_015071.4 , 1728,2553,2222 GG,GA,AA 29.8721,21.9246,46.2018 , 85/760,85/815 142254679 6009,6997 2203 4300 6503 SO:0001819 synonymous_variant AB014521 CCDS4277.1, CCDS47297.1 5q31 2011-06-29 ENSG00000145819 ENSG00000145819 23092 Rho GTPase activating proteins 17073 protein-coding gene gene with protein product GTPase regulator associated with the focal adhesion kinase pp125 605370 NA 9858476, 8649427 Standard NM_015071 NM_001135608 NA Approved GRAF, KIAA0621, OPHN1L, OPHN1L1 uc011dbj.2 Q9UNA1 OTTHUMG00000059705 ENST00000274498.4:c.255A>G chr5.hg19:g.142254679A>G NA O75117|Q5D035|Q9BYS6|Q9BYS7|Q9UJ00 hg19 CCDS4277.1 0.02 2.392285 AAGxTCT COVERED NOVEL ARHGAP26-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000132744.3 1 6.317769 KEEP 0 0 0 21 649 AA 0.999869 0.995556 0 + 5 60 193 0 0 13.935475 63 60 2207 105 ENST00000274498.4 0.073529 0.995687 ARHGAP26 23092 __UNKNOWN__ __UNKNOWN__ 5 142433961 142433961 __UNKNOWN__ Intron SNP C C T rs76071565 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:142433961C>T ENST00000274498.4 + 15 1663 ARHGAP26_ENST00000378004.3_Intron NM_015071.4 NP_055886.1 Q9UNA1 RHG26_HUMAN Rho GTPase activating protein 26 NA NA actin cytoskeleton organization (GO:0030036)|filopodium assembly (GO:0046847)|nervous system development (GO:0007399)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829) phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100) autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1) 25 all_hematologic(541;0.0416) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ttattagttccattttatgct 0.323 NA C||| 957 0.191094 0.2519 0.0764 5008 , , NA 22034 0.5387 NA 0.005 False NA ,,, NA NA NA 2504 0.0235 NA NA NA NA 0 C , 838,3568 319.6+/-296.2 89,660,1454 108 116 113 , -6.2 0 5 dbSNP_131 113 35,8565 23.4+/-69.3 0,35,4265 no intron,intron ARHGAP26 NM_001135608.1,NM_015071.4 , 89,695,5719 TT,TC,CC 0.407,19.0195,6.7123 , , 142433961 873,12133 2203 4300 6503 SO:0001627 intron_variant AB014521 CCDS4277.1, CCDS47297.1 5q31 2011-06-29 ENSG00000145819 ENSG00000145819 23092 Rho GTPase activating proteins 17073 protein-coding gene gene with protein product GTPase regulator associated with the focal adhesion kinase pp125 605370 NA 9858476, 8649427 Standard NM_015071 NM_001135608 NA Approved GRAF, KIAA0621, OPHN1L, OPHN1L1 uc011dbj.2 Q9UNA1 OTTHUMG00000059705 ENST00000274498.4:c.1286-43C>T chr5.hg19:g.142433961C>T NA O75117|Q5D035|Q9BYS6|Q9BYS7|Q9UJ00 hg19 CCDS4277.1 0.02 2.012263 TTCxATT COVERED NOVEL ARHGAP26-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000132744.3 0 4.514219 KEEP 0 0 0 15 498 CC 0.99649 0.995362 0 + 5 60 183 0 0 12.65108 72 60 2587 97 ENST00000274498.4 0.064935 0.998867 ARHGAP26 23092 __UNKNOWN__ __UNKNOWN__ 5 142545575 142545575 __UNKNOWN__ Intron SNP C C T rs116911710 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:142545575C>T ENST00000274498.4 + 20 2366 ARHGAP26_ENST00000378004.3_Intron|ARHGAP26_ENST00000486650.1_Intron NM_015071.4 NP_055886.1 Q9UNA1 RHG26_HUMAN Rho GTPase activating protein 26 NA NA actin cytoskeleton organization (GO:0030036)|filopodium assembly (GO:0046847)|nervous system development (GO:0007399)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829) phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100) autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1) 25 all_hematologic(541;0.0416) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTATGGTCATCGTTGCTCTTT 0.463 NA C||| 83 0.0165735 0.0 0.0101 5008 , , NA 20822 0.0694 NA 0.001 False NA ,,, NA NA NA 2504 0.0051 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB014521 CCDS4277.1, CCDS47297.1 5q31 2011-06-29 ENSG00000145819 ENSG00000145819 23092 Rho GTPase activating proteins 17073 protein-coding gene gene with protein product GTPase regulator associated with the focal adhesion kinase pp125 605370 NA 9858476, 8649427 Standard NM_015071 NM_001135608 NA Approved GRAF, KIAA0621, OPHN1L, OPHN1L1 uc011dbj.2 Q9UNA1 OTTHUMG00000059705 ENST00000274498.4:c.1988+18629C>T chr5.hg19:g.142545575C>T NA O75117|Q5D035|Q9BYS6|Q9BYS7|Q9UJ00 hg19 CCDS4277.1 0.02 11.11439 CATxGTT COVERED NOVEL ARHGAP26-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000132744.3 0 16.252436 KEEP 0 0 0 54 1875 CC 1 1 0 + 11 60 410 0 0 26.37863 254 60 9157 395 ENST00000274498.4 0.041509 1 ARHGAP26 23092 __UNKNOWN__ __UNKNOWN__ 5 142605172 142605172 __UNKNOWN__ 3'UTR SNP T T C rs853158 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:142605172T>C ENST00000274498.4 + 0 5984 ARHGAP26_ENST00000378004.3_3'UTR|ARHGAP26_ENST00000486650.1_3'UTR NM_015071.4 NP_055886.1 Q9UNA1 RHG26_HUMAN Rho GTPase activating protein 26 NA NA actin cytoskeleton organization (GO:0030036)|filopodium assembly (GO:0046847)|nervous system development (GO:0007399)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829) phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100) autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1) 25 all_hematologic(541;0.0416) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCTGTAGACATTTGGCCCCAG 0.502 NA C||| 1759 0.351238 0.4758 0.2507 5008 , , NA 20285 0.4276 NA 0.2873 False NA ,,, NA NA NA 2504 0.2413 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB014521 CCDS4277.1, CCDS47297.1 5q31 2011-06-29 ENSG00000145819 ENSG00000145819 23092 Rho GTPase activating proteins 17073 protein-coding gene gene with protein product GTPase regulator associated with the focal adhesion kinase pp125 605370 NA 9858476, 8649427 Standard NM_015071 NM_001135608 NA Approved GRAF, KIAA0621, OPHN1L, OPHN1L1 uc011dbj.2 Q9UNA1 OTTHUMG00000059705 ENST00000274498.4:c.*3161T>C chr5.hg19:g.142605172T>C NA O75117|Q5D035|Q9BYS6|Q9BYS7|Q9UJ00 hg19 CCDS4277.1 0.02 4.629092 ACAxTTG COVERED NOVEL ARHGAP26-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000132744.3 2 5.714184 KEEP 0 0 0 19 559 TT 0.99986 0.99986 0 + 10 60 390 0 0 28.064549 132 60 4793 183 ENST00000274498.4 0.070423 1 RBM27 54439 __UNKNOWN__ __UNKNOWN__ 5 145668298 145668298 __UNKNOWN__ 3'UTR SNP C C T rs11954297 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:145668298C>T ENST00000265271.5 + 0 6054 RBM27_ENST00000506502.1_Intron NM_018989.1 NP_061862.1 Q9P2N5 RBM27_HUMAN RNA binding motif protein 27 NA NA mRNA processing (GO:0006397) cytoplasm (GO:0005737)|nucleus (GO:0005634) metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822) NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ACTAGTGGATCACTGTCCAAG 0.358 NA T||| 901 0.179912 0.0227 0.3689 5008 , , NA 18974 0.2113 NA 0.2326 False NA ,,, NA NA NA 2504 0.1718 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL833706 CCDS43378.1 5q32 2013-01-09 ENSG00000091009 54439 Zinc fingers, CCCH-type domain containing, RNA binding motif (RRM) containing 29243 protein-coding gene gene with protein product acidic rich RS domain containing 1 NA 10718198, 15741184 Standard XM_291128 NM_018989 NA Approved KIAA1311, ARRS1, Psc1, ZC3H18 uc003lnz.4 Q9P2N5 ENST00000265271.5:c.*2705C>T chr5.hg19:g.145668298C>T NA Q8IYW9 hg19 CCDS43378.1 0.02 10.837885 GATxACT COVERED NOVEL RBM27-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000373420.1 1 12.628851 KEEP 0 0 0 42 1457 CC 1 1 0 + 8 60 295 0 0 17.933827 243 60 9243 355 ENST00000265271.5 0.031873 1 RBM27 54439 __UNKNOWN__ __UNKNOWN__ 5 145668725 145668725 __UNKNOWN__ Intron SNP A A G rs17687490 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:145668725A>G ENST00000506502.1 + 18 3039 Q9P2N5 RBM27_HUMAN RNA binding motif protein 27 NA NA mRNA processing (GO:0006397) cytoplasm (GO:0005737)|nucleus (GO:0005634) metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822) NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGAAAGTATTACAAATTTAAA 0.274 NA A||| 878 0.175319 0.0076 0.3674 5008 , , NA 17497 0.2113 NA 0.2316 False NA ,,, NA NA NA 2504 0.1708 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL833706 CCDS43378.1 5q32 2013-01-09 ENSG00000091009 54439 Zinc fingers, CCCH-type domain containing, RNA binding motif (RRM) containing 29243 protein-coding gene gene with protein product acidic rich RS domain containing 1 NA 10718198, 15741184 Standard XM_291128 NM_018989 NA Approved KIAA1311, ARRS1, Psc1, ZC3H18 uc003lnz.4 Q9P2N5 ENST00000506502.1:c.2823+17488A>G chr5.hg19:g.145668725A>G NA Q8IYW9 hg19 0.02 -0.350902 ATTxCAA COVERED NOVEL RBM27-002 PUTATIVE basic protein_coding NA protein_coding OTTHUMT00000373458.2 1 3.910216 KEEP 0 0 0 13 374 AA 0.994391 0.872784 0 + 3 60 114 0 0 8.238961 36 60 1229 58 ENST00000506502.1 0.076923 0.877708 TCERG1 10915 __UNKNOWN__ __UNKNOWN__ 5 145850328 145850328 __UNKNOWN__ Intron SNP T T C rs12657671 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:145850328T>C ENST00000296702.5 + 8 1550 TCERG1_ENST00000394421.2_Intron NM_006706.3 NP_006697.2 O14776 TCRG1_HUMAN transcription elongation regulator 1 NA NA negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366) nucleus (GO:0005634) poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713) breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1) 46 Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGCCATGACCTGTTAACCTGG 0.388 NA C||| 1835 0.366414 0.2602 0.2291 5008 , , NA 16566 0.8423 NA 0.1909 False NA ,,, NA NA NA 2504 0.2975 NA NA NA NA 0 C , 1046,3360 723.5+/-409.4 119,808,1276 66 61 63 , -6.1 0 5 dbSNP_120 63 1686,6914 737.7+/-407.0 162,1362,2776 no intron,intron TCERG1 NM_001040006.1,NM_006706.3 , 281,2170,4052 CC,CT,TT 19.6047,23.7404,21.0057 , , 145850328 2732,10274 2203 4300 6503 SO:0001627 intron_variant AF017789 CCDS4282.1, CCDS43379.1 5q31 2010-01-25 2002-01-24 2002-01-25 ENSG00000113649 ENSG00000113649 10915 15630 protein-coding gene gene with protein product transcription factor CA150, co-activator of 150 kDa, TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD, TATA box-binding protein-associated factor 2S 605409 TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD TAF2S NA 9315662, 11003711 Standard NM_001040006 XM_005268365 NA Approved CA150, Urn1 uc003lob.3 O14776 OTTHUMG00000129683 ENST00000296702.5:c.1512+17T>C chr5.hg19:g.145850328T>C NA Q2NKN2|Q59EA1 hg19 CCDS4282.1 0.02 4.302019 ACCxGTT COVERED NOVEL TCERG1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000251886.1 1 7.823763 KEEP 0 0 0 26 833 TT 0.999957 0.999951 0 + 6 60 196 0 0 12.361073 104 60 3942 177 ENST00000296702.5 0.054545 0.999994 TCERG1 10915 __UNKNOWN__ __UNKNOWN__ 5 145890455 145890455 __UNKNOWN__ 3'UTR SNP C C T rs3822506 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:145890455C>T ENST00000296702.5 + 0 3585 TCERG1_ENST00000394421.2_3'UTR NM_006706.3 NP_006697.2 O14776 TCRG1_HUMAN transcription elongation regulator 1 NA NA negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366) nucleus (GO:0005634) poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713) breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1) 46 Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AGCTAAAATTCATCCTTTTAT 0.368 NA C||| 1155 0.230631 0.0325 0.1167 5008 , , NA 17532 0.7183 NA 0.0915 False NA ,,, NA NA NA 2504 0.2198 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF017789 CCDS4282.1, CCDS43379.1 5q31 2010-01-25 2002-01-24 2002-01-25 ENSG00000113649 ENSG00000113649 10915 15630 protein-coding gene gene with protein product transcription factor CA150, co-activator of 150 kDa, TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD, TATA box-binding protein-associated factor 2S 605409 TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD TAF2S NA 9315662, 11003711 Standard NM_001040006 XM_005268365 NA Approved CA150, Urn1 uc003lob.3 O14776 OTTHUMG00000129683 ENST00000296702.5:c.*250C>T chr5.hg19:g.145890455C>T NA Q2NKN2|Q59EA1 hg19 CCDS4282.1 0.02 8.243186 ATTxATC COVERED NOVEL TCERG1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000251886.1 1 9.029022 KEEP 0 0 0 30 1042 CC 0.999997 0.999997 0 + 9 60 323 0 0 20.123432 220 60 8369 299 ENST00000296702.5 0.039301 1 GPR151 134391 __UNKNOWN__ __UNKNOWN__ 5 145894896 145894896 __UNKNOWN__ Missense_Mutation SNP G G C rs7709485 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:145894896G>C ENST00000311104.2 - 1 857 c.781C>G c.(781-783)Ctc>Gtc p.L261V NM_194251.2 NP_919227.2 Q8TDV0 GP151_HUMAN G protein-coupled receptor 151 261 NA L -> V (in dbSNP:rs7709485). integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2) 14 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AGCCACAAGAGAGCAGAGATG 0.502 NA G||| 1713 0.342053 0.2519 0.183 5008 , , NA 19667 0.7669 NA 0.1958 False NA ,,, NA NA NA 2504 0.2894 NA NA NA Pancreas(78;420 1386 18535 37114 49710) NA 0 G VAL/LEU 1027,3379 378.5+/-322.9 120,787,1296 59 61 61 781 -1.6 0 5 dbSNP_116 61 1726,6874 314.9+/-312.0 172,1382,2746 yes missense GPR151 NM_194251.2 32 292,2169,4042 CC,CG,GG 20.0698,23.3091,21.1672 benign 261/420 145894896 2753,10253 2203 4300 6503 SO:0001583 missense AY255557 CCDS34266.1 5q32 2012-08-21 134391 GPCR / Class A : Orphans 23624 protein-coding gene gene with protein product galanin receptor 4 NA 12679517 Standard NM_194251 NM_194251 NA Approved PGR7, GALR4 uc003lod.1 Q8TDV0 ENST00000311104.2:c.781C>G chr5.hg19:g.145894896G>C ENSP00000308733:p.Leu261Val NA Q86SN8|Q8NGV2 hg19 CCDS34266.1 0.02 9.080332 AGAxAGC COVERED 792 0.3626373626373626 114 0.23170731707317074 79 0.21823204419889503 457 0.798951048951049 142 0.18733509234828497 G 0.255 -1.003594 0.02128 0.233091 0.200698 ENSG00000173250 ENST00000311104 T 0.37584 1.19 5.91 -1.58 0.08479 GPCR, rhodopsin-like superfamily (1); 0.302038 0.34110 N 0.004255 T 0.00012 0.0000 L 0.43152 1.355 0.80722 P 0.0 B 0.09022 0.002 B 0.14578 0.011 T 0.33033 -0.9884 9 0.13853 T 0.58 . 9.1674 0.37060 0.0:0.4239:0.2966:0.2795 rs7709485;rs17506353;rs52809074;rs58222574;rs7709485 261 Q8TDV0 GP151_HUMAN V 261 ENSP00000308733:L261V ENSP00000308733:L261V L - 1 0 GPR151 145875089 0.004000 0.15560 0.002000 0.10522 0.022000 0.10575 -0.025000 0.12413 -0.538000 0.06281 -0.175000 0.13238 CTC NOVEL GPR151-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000373457.1 2 11.436165 KEEP 0 0 0 38 1311 GG 1 1 0 - 15 60 566 0 0 39.507854 221 60 8335 320 ENST00000311104.2 0.063559 1 DPYSL3 1809 __UNKNOWN__ __UNKNOWN__ 5 146777188 146777188 __UNKNOWN__ Intron SNP A A G rs2304045 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:146777188A>G ENST00000398514.3 - 12 1833 DPYSL3_ENST00000534907.1_Intron|DPYSL3_ENST00000343218.5_Intron NM_001387.2 NP_001378.1 Q14195 DPYL3_HUMAN dihydropyrimidinase-like 3 NA NA actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cell migration (GO:0030336)|negative regulation of neuron projection development (GO:0010977)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron projection development (GO:0010976)|protein homooligomerization (GO:0051260)|pyrimidine nucleobase catabolic process (GO:0006208)|response to axon injury (GO:0048678) cell body (GO:0044297)|cytosol (GO:0005829)|extracellular space (GO:0005615)|filamentous actin (GO:0031941)|growth cone (GO:0030426)|lamellipodium (GO:0030027) chondroitin sulfate binding (GO:0035374)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)|SH3 domain binding (GO:0017124) breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGAGTGGAACACAAAGCTCCT 0.488 NA A||| 2546 0.508387 0.5877 0.5187 5008 , , NA 15874 0.5446 NA 0.3847 False NA ,,, NA NA NA 2504 0.4836 NA NA NA NA 0 A , 2214,1796 628,958,419 46 49 48 , -3.9 0 5 dbSNP_100 48 3305,5043 653,1999,1522 no intron,intron DPYSL3 NM_001197294.1,NM_001387.2 , 1281,2957,1941 GG,GA,AA 39.5903,44.788,44.6593 , , 146777188 5519,6839 2005 4174 6179 SO:0001627 intron_variant D78014 CCDS43381.1, CCDS56387.1 5q32 2008-02-05 1809 3015 protein-coding gene gene with protein product 601168 NA 8973361, 9115293 Standard NM_001387 NM_001197294 NA Approved DRP-3, ULIP, CRMP4 uc003loo.3 Q14195 ENST00000398514.3:c.1461+40T>C chr5.hg19:g.146777188A>G NA B3SXQ8|Q93012 hg19 CCDS43381.1 0.02 1.968741 AACxCAA COVERED NOVEL DPYSL3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000373421.2 0 9.629115 KEEP 0 0 0 32 1022 AA 0.999997 0.999405 0 - 5 60 159 0 0 10.125769 77 60 2803 138 ENST00000398514.3 0.060976 0.999407 JAKMIP2 9832 __UNKNOWN__ __UNKNOWN__ 5 146971279 146971279 __UNKNOWN__ Intron SNP A A G rs77301397 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:146971279A>G ENST00000265272.5 - 21 2880 JAKMIP2_ENST00000507386.1_Intron|JAKMIP2_ENST00000333010.6_Intron NM_001270941.1|NM_014790.4 NP_001257870.1|NP_055605.2 Q96AA8 JKIP2_HUMAN janus kinase and microtubule interacting protein 2 NA NA Golgi apparatus (GO:0005794) NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AATTATTTATATATCAATTTT 0.289 NA A||| 768 0.153355 0.0053 0.2176 5008 , , NA 15503 0.2073 NA 0.1561 False NA ,,, NA NA NA 2504 0.2495 NA NA NA NA 0 A 120,4284 87.3+/-125.9 2,116,2084 40 42 41 -1.6 0 5 dbSNP_132 41 1133,7463 230.5+/-264.8 71,991,3236 no intron JAKMIP2 NM_014790.3 73,1107,5320 GG,GA,AA 13.1805,2.7248,9.6385 146971279 1253,11747 2202 4298 6500 SO:0001627 intron_variant AB011127 CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1 5q32 2009-08-13 2009-08-13 ENSG00000176049 ENSG00000176049 9832 29067 protein-coding gene gene with protein product 611197 NA 9628581 Standard NM_014790 NM_001270941 NA Approved JAMIP2, KIAA0555 uc010jgo.2 Q96AA8 OTTHUMG00000129731 ENST00000265272.5:c.2413-30T>C chr5.hg19:g.146971279A>G NA A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1 hg19 CCDS4285.1 0.02 11.087729 TATxTAT COVERED NOVEL JAKMIP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251941.1 1 5.414693 KEEP 0 0 0 18 522 AA 0.999859 0.999859 0 - 12 60 447 0 0 29.152524 256 60 9366 290 ENST00000265272.5 0.044776 1 JAKMIP2 9832 __UNKNOWN__ __UNKNOWN__ 5 147021086 147021086 __UNKNOWN__ Intron SNP T T G rs3765006 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:147021086T>G ENST00000265272.5 - 8 1749 JAKMIP2_ENST00000507386.1_Intron|JAKMIP2_ENST00000333010.6_Intron NM_001270941.1|NM_014790.4 NP_001257870.1|NP_055605.2 Q96AA8 JKIP2_HUMAN janus kinase and microtubule interacting protein 2 NA NA Golgi apparatus (GO:0005794) NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATTTACAACATAATCATTTTT 0.353 NA G||| 1714 0.342252 0.3162 0.3602 5008 , , NA 17573 0.5982 NA 0.161 False NA ,,, NA NA NA 2504 0.2873 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB011127 CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1 5q32 2009-08-13 2009-08-13 ENSG00000176049 ENSG00000176049 9832 29067 protein-coding gene gene with protein product 611197 NA 9628581 Standard NM_014790 NM_001270941 NA Approved JAMIP2, KIAA0555 uc010jgo.2 Q96AA8 OTTHUMG00000129731 ENST00000265272.5:c.1281+184A>C chr5.hg19:g.147021086T>G NA A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1 hg19 CCDS4285.1 0.02 1.971687 ACAxAAT COVERED NOVEL JAKMIP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251941.1 2 3.610557 KEEP 0 0 0 12 361 TT 0.993634 0.993541 0 - 4 60 155 0 0 10.245189 89 60 3264 106 ENST00000265272.5 0.043011 0.999907 JAKMIP2 9832 __UNKNOWN__ __UNKNOWN__ 5 147040112 147040112 __UNKNOWN__ Intron SNP T T C rs200747551|rs114468800 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:147040112T>C ENST00000265272.5 - 3 1095 JAKMIP2_ENST00000507386.1_Intron|JAKMIP2_ENST00000333010.6_Intron NM_001270941.1|NM_014790.4 NP_001257870.1|NP_055605.2 Q96AA8 JKIP2_HUMAN janus kinase and microtubule interacting protein 2 NA NA Golgi apparatus (GO:0005794) NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAACAAACAATAAAACTCTAC 0.338 NA T||| 657 0.13119 0.0953 0.1614 5008 , , NA 14706 0.2173 NA 0.0497 False NA ,,, NA NA NA 2504 0.1534 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB011127 CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1 5q32 2009-08-13 2009-08-13 ENSG00000176049 ENSG00000176049 9832 29067 protein-coding gene gene with protein product 611197 NA 9628581 Standard NM_014790 NM_001270941 NA Approved JAMIP2, KIAA0555 uc010jgo.2 Q96AA8 OTTHUMG00000129731 ENST00000265272.5:c.627+398A>G chr5.hg19:g.147040112T>C NA A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1 hg19 CCDS4285.1 0.02 2.138391 CAAxAAA COVERED NOVEL JAKMIP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251941.1 0 6.017439 KEEP 0 0 0 20 620 TT 0.999863 0.998064 0 - 4 60 151 0 0 10.252099 70 60 2565 118 ENST00000265272.5 0.054054 0.9982 C5orf46 389336 __UNKNOWN__ __UNKNOWN__ 5 147281308 147281308 __UNKNOWN__ Silent SNP C C T rs11956228 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:147281308C>T ENST00000318315.4 - 2 99 c.99G>A c.(97-99)aaG>aaA p.K33K C5orf46_ENST00000510432.1_5'UTR|C5orf46_ENST00000515291.1_Silent_p.K33K NM_206966.2 NP_996849.2 Q6UWT4 CE046_HUMAN chromosome 5 open reading frame 46 33 NA extracellular vesicular exosome (GO:0070062) NS(1)|lung(1)|prostate(1) 3 Agtcgtctggcttgtcgtctg 0.493 NA C||| 422 0.0842652 0.0522 0.0735 5008 , , NA 16633 0.127 NA 0.0706 False NA ,,, NA NA NA 2504 0.1053 NA NA NA NA 0 C 224,4182 135.3+/-171.4 5,214,1984 219 193 202 99 0.7 0.6 5 dbSNP_120 202 719,7881 175.2+/-225.3 32,655,3613 no coding-synonymous C5orf46 NM_206966.2 37,869,5597 TT,TC,CC 8.3605,5.084,7.2505 33/88 147281308 943,12063 2203 4300 6503 SO:0001819 synonymous_variant CCDS34267.1 5q33.1 2013-12-13 ENSG00000178776 ENSG00000178776 389336 33768 protein-coding gene gene with protein product skin and saliva secreted protein 1 NA Standard NM_206966 NM_206966 NA Approved MGC23985, SSSP1 uc003lou.3 Q6UWT4 OTTHUMG00000163420 ENST00000318315.4:c.99G>A chr5.hg19:g.147281308C>T NA A8K038|Q8WU04 hg19 CCDS34267.1 0.02 12.863064 TGGxTTG COVERED NOVEL C5orf46-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000373314.1 0 12.039744 KEEP 0 0 0 40 1469 CC 1 1 0 - 17 60 604 0 0 39.284824 321 60 12124 434 ENST00000318315.4 0.050296 1 C5orf46 389336 __UNKNOWN__ __UNKNOWN__ 5 147286013 147286013 __UNKNOWN__ Missense_Mutation SNP A A T rs7722926 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:147286013A>T ENST00000318315.4 - 1 52 c.52T>A c.(52-54)Ttc>Atc p.F18I C5orf46_ENST00000510432.1_5'UTR|C5orf46_ENST00000515291.1_Missense_Mutation_p.F18I NM_206966.2 NP_996849.2 Q6UWT4 CE046_HUMAN chromosome 5 open reading frame 46 18 NA F -> I (in dbSNP:rs7722926). {ECO:0000269|PubMed:14702039}. extracellular vesicular exosome (GO:0070062) NS(1)|lung(1)|prostate(1) 3 CAGGTCAGGAATAAGACAAGC 0.458 NA T||| 1475 0.294529 0.6619 0.147 5008 , , NA 17834 0.2232 NA 0.0905 False NA ,,, NA NA NA 2504 0.1861 NA NA NA NA 0 T ILE/PHE 2689,1717 514.9+/-368.7 819,1051,333 99 87 91 52 3.7 0.9 5 dbSNP_116 91 901,7699 777.8+/-407.7 52,797,3451 yes missense C5orf46 NM_206966.2 21 871,1848,3784 TT,TA,AA 10.4767,38.9696,27.6026 benign 18/88 147286013 3590,9416 2203 4300 6503 SO:0001583 missense CCDS34267.1 5q33.1 2013-12-13 ENSG00000178776 ENSG00000178776 389336 33768 protein-coding gene gene with protein product skin and saliva secreted protein 1 NA Standard NM_206966 NM_206966 NA Approved MGC23985, SSSP1 uc003lou.3 Q6UWT4 OTTHUMG00000163420 ENST00000318315.4:c.52T>A chr5.hg19:g.147286013A>T ENSP00000315370:p.Phe18Ile NA A8K038|Q8WU04 hg19 CCDS34267.1 0.02 24.739554 GGAxTAA COVERED 576 0.26373626373626374 326 0.6626016260162602 56 0.15469613259668508 127 0.22202797202797203 67 0.08839050131926121 T 5.187 0.220059 0.09863 0.610304 0.104767 ENSG00000178776 ENST00000318315;ENST00000515291 T;T 0.36340 1.26;1.26 4.88 3.7 0.42460 . 0.000000 0.49305 N 0.000160 T 0.00012 0.0000 . . . 0.58432 P 5.999999999950489E-6 B 0.02656 0.0 B 0.01281 0.0 T 0.46359 -0.9197 8 0.02654 T 1 -13.5441 5.7677 0.18235 0.1688:0.0:0.177:0.6542 rs7722926;rs56595669;rs7722926 18 Q6UWT4 CE046_HUMAN I 18 ENSP00000315370:F18I;ENSP00000425984:F18I ENSP00000315370:F18I F - 1 0 C5orf46 147266206 0.993000 0.37304 0.941000 0.38009 0.994000 0.84299 1.300000 0.33436 0.443000 0.26582 -0.257000 0.10917 TTC NOVEL C5orf46-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000373314.1 4 14.444554 KEEP 0 0 0 48 1562 AA 1 1 0 - 33 60 1219 0 0 82.844888 540 60 19609 744 ENST00000318315.4 0.057592 1 FBXO38 81545 __UNKNOWN__ __UNKNOWN__ 5 147796533 147796533 __UNKNOWN__ Intron SNP G G C rs58313354 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:147796533G>C ENST00000340253.5 + 12 1575 FBXO38_ENST00000296701.6_Intron|FBXO38_ENST00000394370.3_Intron|FBXO38_ENST00000513826.1_Intron Q6PIJ6 FBX38_HUMAN F-box protein 38 NA NA cell death (GO:0008219) cytoplasm (GO:0005737)|nucleus (GO:0005634) ATG4C/FBXO38(2) NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1) 51 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATTAATAAACGTATGTGTTTT 0.338 NA G||| 675 0.134784 0.1974 0.0677 5008 , , NA 20103 0.248 NA 0.0229 False NA ,,, NA NA NA 2504 0.0961 NA NA NA NA 0 G , 726,3680 297.3+/-284.7 77,572,1554 105 96 99 , -0.5 0 5 dbSNP_129 99 100,8500 54.8+/-115.7 3,94,4203 no intron,intron FBXO38 NM_030793.3,NM_205836.1 , 80,666,5757 CC,CG,GG 1.1628,16.4775,6.3509 , , 147796533 826,12180 2203 4300 6503 SO:0001627 intron_variant BC005873 CCDS43384.1, CCDS64285.1 5q33.1 2008-02-05 ENSG00000145868 ENSG00000145868 81545 F-boxes / other 28844 protein-coding gene gene with protein product 608533 NA 12477932 Standard NM_030793 NM_030793 NA Approved MOKA, SP329, FLJ13962, Fbx38 uc003lpg.2 Q6PIJ6 OTTHUMG00000129929 ENST00000340253.5:c.1408-24G>C chr5.hg19:g.147796533G>C NA Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40 hg19 0.02 6.725902 AACxTAT COVERED NOVEL FBXO38-002 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000252185.2 2 9.629472 KEEP 0 0 0 32 1047 GG 0.999997 0.999997 0 + 8 60 304 0 0 19.670429 190 60 6283 257 ENST00000340253.5 0.040404 1 FBXO38 81545 __UNKNOWN__ __UNKNOWN__ 5 147803557 147803557 __UNKNOWN__ Intron SNP G G T rs11168047 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:147803557G>T ENST00000340253.5 + 13 1786 FBXO38_ENST00000296701.6_Intron|FBXO38_ENST00000394370.3_Intron|FBXO38_ENST00000513826.1_Intron Q6PIJ6 FBX38_HUMAN F-box protein 38 NA NA cell death (GO:0008219) cytoplasm (GO:0005737)|nucleus (GO:0005634) p.?(1) ATG4C/FBXO38(2) NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1) 51 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TATTTTCGTTGAAGCATTAAA 0.428 NA T||| 2525 0.504193 0.7678 0.3847 5008 , , NA 20951 0.5962 NA 0.2584 False NA ,,, NA NA NA 2504 0.3906 NA NA NA NA 1 Unknown(1) stomach(1) T , 2981,1425 463.0+/-353.4 1032,917,254 96 95 95 , 2.9 1 5 dbSNP_120 95 2390,6210 700.0+/-405.1 310,1770,2220 no intron,intron FBXO38 NM_030793.3,NM_205836.1 , 1342,2687,2474 TT,TG,GG 27.7907,32.3423,41.2963 , , 147803557 5371,7635 2203 4300 6503 SO:0001627 intron_variant BC005873 CCDS43384.1, CCDS64285.1 5q33.1 2008-02-05 ENSG00000145868 ENSG00000145868 81545 F-boxes / other 28844 protein-coding gene gene with protein product 608533 NA 12477932 Standard NM_030793 NM_030793 NA Approved MOKA, SP329, FLJ13962, Fbx38 uc003lpg.2 Q6PIJ6 OTTHUMG00000129929 ENST00000340253.5:c.1619-4G>T chr5.hg19:g.147803557G>T NA Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40 hg19 0.02 9.639656 GTTxAAG COVERED NOVEL FBXO38-002 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000252185.2 1 12.339893 KEEP 0 0 0 41 1437 GG 1 1 0 + 9 60 295 0 0 16.882566 265 60 10019 362 ENST00000340253.5 0.032847 1 HTR4 3360 __UNKNOWN__ __UNKNOWN__ 5 147856232 147856232 __UNKNOWN__ 3'UTR SNP T T C rs6580550 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:147856232T>C ENST00000517929.1 - 0 1167 HTR4_ENST00000521735.1_Intron|HTR4_ENST00000354217.2_Intron|HTR4_ENST00000314512.6_Intron|HTR4_ENST00000521530.1_Intron NM_001040172.2 NP_001035262.2 Q13639 5HT4R_HUMAN 5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled NA NA G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|regulation of appetite (GO:0032098)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268) cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886) serotonin receptor activity (GO:0004993) endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Cinitapride(DB08810)|Cisapride(DB00604)|Ergoloid mesylate(DB01049)|Metoclopramide(DB01233)|Ondansetron(DB00904) aacttcagtgtacaaaaacct 0.393 NA C||| 2931 0.585264 0.677 0.6225 5008 , , NA 19008 0.7421 NA 0.4006 False NA ,,, NA NA NA 2504 0.4632 NA NA NA GBM(120;370 1604 14007 17804 41573) NA 0 C ,, 891,493 295,301,96 71 62 65 ,, -2.2 0 5 dbSNP_116 65 1430,1752 326,778,487 no intron,utr-3,intron HTR4 NM_001040169.2,NM_001040172.2,NM_199453.3 ,, 621,1079,583 CC,CT,TT 44.9403,35.6214,49.1678 ,, ,, 147856232 2321,2245 692 1591 2283 SO:0001624 3_prime_UTR_variant Y08756 CCDS4291.1, CCDS34270.1, CCDS34271.1, CCDS34272.1, CCDS34273.1, CCDS34273.2, CCDS75353.1 5q31-q33 2012-08-08 2012-02-03 ENSG00000164270 ENSG00000164270 3360 5-HT (serotonin) receptors, GPCR / Class A : 5-HT (serotonin) receptors, GPCR only 5299 protein-coding gene gene with protein product 602164 5-hydroxytryptamine (serotonin) receptor 4 NA 9371406, 9276448 Standard NM_000870 NM_199453 NA Approved 5-HT4 uc021yfj.1 Q13639 OTTHUMG00000129931 ENST00000517929.1:c.*70A>G chr5.hg19:g.147856232T>C NA C4WYH4|Q546Q1|Q684M0|Q712M9|Q96KH9|Q96KI0|Q9H199|Q9NY73|Q9UBM6|Q9UBT4|Q9UE22|Q9UE23|Q9UQR6 hg19 CCDS34273.2 0.02 17.332401 GTGxACA COVERED NOVEL HTR4-011 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000374236.2 3 13.237083 KEEP 0 0 0 44 1314 TT 1 1 0 - 17 70 619 0 0 40.35403 356 60 12532 500 ENST00000517929.1 0.045576 1 HTR4 3360 __UNKNOWN__ __UNKNOWN__ 5 147856333 147856333 __UNKNOWN__ Intron SNP G G A rs7733088 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:147856333G>A ENST00000314512.6 - 7 1240 HTR4_ENST00000521735.1_Intron|HTR4_ENST00000354217.2_Intron|HTR4_ENST00000521530.1_Intron|HTR4_ENST00000517929.1_Intron NM_199453.3 NP_955525.1 Q13639 5HT4R_HUMAN 5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled NA NA G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|regulation of appetite (GO:0032098)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268) cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886) serotonin receptor activity (GO:0004993) endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Cinitapride(DB08810)|Cisapride(DB00604)|Ergoloid mesylate(DB01049)|Metoclopramide(DB01233)|Ondansetron(DB00904) caaaaagaacgtaattaatga 0.373 NA A||| 2173 0.433906 0.289 0.5533 5008 , , NA 19898 0.6359 NA 0.3668 False NA ,,, NA NA NA 2504 0.4059 NA NA NA GBM(120;370 1604 14007 17804 41573) NA 0 A ,, 1163,2495 188,787,854 90 81 84 ,, 2.8 0 5 dbSNP_116 84 3183,4993 623,1937,1528 no intron,intron,intron HTR4 NM_001040169.2,NM_001040172.2,NM_199453.3 ,, 811,2724,2382 AA,AG,GG http://www.ncbi.nlm.nih.gov/pubmed?term 38.931,31.7933,36.7247 ,, ,, 147856333 4346,7488 1829 4088 5917 SO:0001627 intron_variant Y08756 CCDS4291.1, CCDS34270.1, CCDS34271.1, CCDS34272.1, CCDS34273.1, CCDS34273.2, CCDS75353.1 5q31-q33 2012-08-08 2012-02-03 ENSG00000164270 ENSG00000164270 3360 5-HT (serotonin) receptors, GPCR / Class A : 5-HT (serotonin) receptors, GPCR only 5299 protein-coding gene gene with protein product 602164 5-hydroxytryptamine (serotonin) receptor 4 NA 9371406, 9276448 Standard NM_000870 NM_199453 NA Approved 5-HT4 uc021yfj.1 Q13639 OTTHUMG00000129931 ENST00000314512.6:c.1077-10845C>T chr5.hg19:g.147856333G>A NA C4WYH4|Q546Q1|Q684M0|Q712M9|Q96KH9|Q96KI0|Q9H199|Q9NY73|Q9UBM6|Q9UBT4|Q9UE22|Q9UE23|Q9UQR6 hg19 CCDS34271.1 0.02 18.055953 AACxTAA COVERED NOVEL HTR4-201 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000374235.1 0 8.461768 KEEP 0 1 31 39 1346 GG 1 1 0 - 20 60 723 0 0 47.133768 396 60 14078 533 ENST00000314512.6 0.048077 1 HTR4 3360 __UNKNOWN__ __UNKNOWN__ 5 147856392 147856392 __UNKNOWN__ Intron SNP A A G rs7715901 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:147856392A>G ENST00000314512.6 - 7 1240 HTR4_ENST00000521735.1_Intron|HTR4_ENST00000354217.2_Intron|HTR4_ENST00000521530.1_Intron|HTR4_ENST00000517929.1_Intron NM_199453.3 NP_955525.1 Q13639 5HT4R_HUMAN 5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled NA NA G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|regulation of appetite (GO:0032098)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268) cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886) serotonin receptor activity (GO:0004993) endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Cinitapride(DB08810)|Cisapride(DB00604)|Ergoloid mesylate(DB01049)|Metoclopramide(DB01233)|Ondansetron(DB00904) aacaaataaaatgtttgggga 0.393 NA G||| 2176 0.434505 0.289 0.5533 5008 , , NA 19690 0.6359 NA 0.3668 False NA ,,, NA NA NA 2504 0.409 NA NA NA GBM(120;370 1604 14007 17804 41573) NA 0 G ,, 452,932 80,292,320 72 59 63 ,, 1.1 0 5 dbSNP_116 63 1243,1939 252,739,600 no intron,intron,intron HTR4 NM_001040169.2,NM_001040172.2,NM_199453.3 ,, 332,1031,920 GG,GA,AA 39.0635,32.659,37.1222 ,, ,, 147856392 1695,2871 692 1591 2283 SO:0001627 intron_variant Y08756 CCDS4291.1, CCDS34270.1, CCDS34271.1, CCDS34272.1, CCDS34273.1, CCDS34273.2, CCDS75353.1 5q31-q33 2012-08-08 2012-02-03 ENSG00000164270 ENSG00000164270 3360 5-HT (serotonin) receptors, GPCR / Class A : 5-HT (serotonin) receptors, GPCR only 5299 protein-coding gene gene with protein product 602164 5-hydroxytryptamine (serotonin) receptor 4 NA 9371406, 9276448 Standard NM_000870 NM_199453 NA Approved 5-HT4 uc021yfj.1 Q13639 OTTHUMG00000129931 ENST00000314512.6:c.1077-10904T>C chr5.hg19:g.147856392A>G NA C4WYH4|Q546Q1|Q684M0|Q712M9|Q96KH9|Q96KI0|Q9H199|Q9NY73|Q9UBM6|Q9UBT4|Q9UE22|Q9UE23|Q9UQR6 hg19 CCDS34271.1 0.02 15.383012 AAAxTGT COVERED NOVEL HTR4-201 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000374235.1 1 9.307529 KEEP 0 0 0 31 954 AA 0.999997 0.999997 0 - 19 60 690 0 0 45.847696 338 60 12349 443 ENST00000314512.6 0.053221 1 ADRB2 154 __UNKNOWN__ __UNKNOWN__ 5 148207447 148207447 __UNKNOWN__ Silent SNP G G C rs1042719 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:148207447G>C ENST00000305988.4 + 1 1292 c.1053G>C c.(1051-1053)ggG>ggC p.G351G NM_000024.5 NP_000015 P07550 ADRB2_HUMAN adrenoceptor beta 2, surface 351 NA activation of adenylate cyclase activity (GO:0007190)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|bone resorption (GO:0045453)|brown fat cell differentiation (GO:0050873)|cell surface receptor signaling pathway (GO:0007166)|desensitization of G-protein coupled receptor protein signaling pathway by arrestin (GO:0002032)|diet induced thermogenesis (GO:0002024)|endosome to lysosome transport (GO:0008333)|heat generation (GO:0031649)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of smooth muscle contraction (GO:0045986)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor-mediated endocytosis (GO:0006898)|regulation of sodium ion transport (GO:0002028)|regulation of vasodilation (GO:0042312)|response to cold (GO:0009409)|vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure (GO:0002025) apical plasma membrane (GO:0016324)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) beta2-adrenergic receptor activity (GO:0004941)|norepinephrine binding (GO:0051380)|potassium channel regulator activity (GO:0015459)|protein homodimerization activity (GO:0042803) endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Acebutolol(DB01193)|Alprenolol(DB00866)|Amitriptyline(DB00321)|Amphetamine(DB00182)|Arbutamine(DB01102)|Arformoterol(DB01274)|Asenapine(DB06216)|Atenolol(DB00335)|Bambuterol(DB01408)|Betaxolol(DB00195)|Bethanidine(DB00217)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bopindolol(DB08807)|Bupranolol(DB08808)|Cabergoline(DB00248)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Dipivefrin(DB00449)|Dobutamine(DB00841)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Indacaterol(DB05039)|Isoetarine(DB00221)|Isoprenaline(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Mephentermine(DB01365)|Metipranolol(DB01214)|Metoprolol(DB00264)|Mirtazapine(DB00370)|Nadolol(DB01203)|Nebivolol(DB04861)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Phenoxybenzamine(DB00925)|Phenylpropanolamine(DB00397)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Sotalol(DB00489)|Terbutaline(DB00871)|Timolol(DB00373)|Trimipramine(DB00726) AGGCCTATGGGAATGGCTACT 0.522 NA G||| 1874 0.374201 0.3533 0.3516 5008 , , NA 18458 0.4772 NA 0.2793 False NA ,,, NA NA NA 2504 0.41 NA NA NA NA 0 G 1554,2852 486.7+/-360.7 281,992,930 55 57 56 1053 3.9 1 5 dbSNP_86 56 2468,6132 407.0+/-349.0 350,1768,2182 no coding-synonymous ADRB2 NM_000024.5 631,2760,3112 CC,CG,GG 28.6977,35.2701,30.9242 351/414 148207447 4022,8984 2203 4300 6503 SO:0001819 synonymous_variant AF022953 CCDS4292.1 5q31-q32 2012-08-08 2012-05-09 ENSG00000169252 ENSG00000169252 154 GPCR / Class A : Adrenoceptors : beta 286 protein-coding gene gene with protein product 109690 adrenergic, beta-2-, receptor, surface ADRB2R NA Standard NM_000024 NM_000024 NA Approved ADRBR, BAR, B2AR uc003lpr.2 P07550 OTTHUMG00000129933 ENST00000305988.4:c.1053G>C chr5.hg19:g.148207447G>C NA B0LPE4|B2R7X2|O14823|O14824|O14825|O14826|Q4JG18|Q53GA6|Q6GMT4|Q6P4D8|Q8NEQ9|Q96EC3|Q9UCZ0|Q9UCZ1|Q9UCZ2|Q9UCZ3|Q9UH95|Q9UHA1|Q9UMZ5 hg19 CCDS4292.1 0.02 9.309548 TGGxAAT COVERED NOVEL ADRB2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252189.1 5 2.516236 KEEP 0 3 108 46 1580 GG 1 1 0 + 8 60 313 0 0 19.830378 236 60 8623 330 ENST00000305988.4 0.032787 1 ADRB2 154 __UNKNOWN__ __UNKNOWN__ 5 148207633 148207633 __UNKNOWN__ Silent SNP G G A rs1042720 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:148207633G>A ENST00000305988.4 + 1 1478 c.1239G>A c.(1237-1239)ctG>ctA p.L413L NM_000024.5 NP_000015 P07550 ADRB2_HUMAN adrenoceptor beta 2, surface 413 NA activation of adenylate cyclase activity (GO:0007190)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|bone resorption (GO:0045453)|brown fat cell differentiation (GO:0050873)|cell surface receptor signaling pathway (GO:0007166)|desensitization of G-protein coupled receptor protein signaling pathway by arrestin (GO:0002032)|diet induced thermogenesis (GO:0002024)|endosome to lysosome transport (GO:0008333)|heat generation (GO:0031649)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of smooth muscle contraction (GO:0045986)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor-mediated endocytosis (GO:0006898)|regulation of sodium ion transport (GO:0002028)|regulation of vasodilation (GO:0042312)|response to cold (GO:0009409)|vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure (GO:0002025) apical plasma membrane (GO:0016324)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) beta2-adrenergic receptor activity (GO:0004941)|norepinephrine binding (GO:0051380)|potassium channel regulator activity (GO:0015459)|protein homodimerization activity (GO:0042803) endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Acebutolol(DB01193)|Alprenolol(DB00866)|Amitriptyline(DB00321)|Amphetamine(DB00182)|Arbutamine(DB01102)|Arformoterol(DB01274)|Asenapine(DB06216)|Atenolol(DB00335)|Bambuterol(DB01408)|Betaxolol(DB00195)|Bethanidine(DB00217)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bopindolol(DB08807)|Bupranolol(DB08808)|Cabergoline(DB00248)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Dipivefrin(DB00449)|Dobutamine(DB00841)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Indacaterol(DB05039)|Isoetarine(DB00221)|Isoprenaline(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Mephentermine(DB01365)|Metipranolol(DB01214)|Metoprolol(DB00264)|Mirtazapine(DB00370)|Nadolol(DB01203)|Nebivolol(DB04861)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Phenoxybenzamine(DB00925)|Phenylpropanolamine(DB00397)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Sotalol(DB00489)|Terbutaline(DB00871)|Timolol(DB00373)|Trimipramine(DB00726) ACTCACTGCTGTAAAGCAGTT 0.403 NA G||| 2548 0.508786 0.5847 0.4438 5008 , , NA 15122 0.6429 NA 0.3131 False NA ,,, NA NA NA 2504 0.5153 NA NA NA NA 0 G 2363,2043 560.0+/-380.4 646,1071,486 51 54 53 1239 1.6 1 5 dbSNP_86 53 2810,5788 431.4+/-356.8 453,1904,1942 no coding-synonymous ADRB2 NM_000024.5 1099,2975,2428 AA,AG,GG 32.682,46.3686,39.7801 413/414 148207633 5173,7831 2203 4299 6502 SO:0001819 synonymous_variant AF022953 CCDS4292.1 5q31-q32 2012-08-08 2012-05-09 ENSG00000169252 ENSG00000169252 154 GPCR / Class A : Adrenoceptors : beta 286 protein-coding gene gene with protein product 109690 adrenergic, beta-2-, receptor, surface ADRB2R NA Standard NM_000024 NM_000024 NA Approved ADRBR, BAR, B2AR uc003lpr.2 P07550 OTTHUMG00000129933 ENST00000305988.4:c.1239G>A chr5.hg19:g.148207633G>A NA B0LPE4|B2R7X2|O14823|O14824|O14825|O14826|Q4JG18|Q53GA6|Q6GMT4|Q6P4D8|Q8NEQ9|Q96EC3|Q9UCZ0|Q9UCZ1|Q9UCZ2|Q9UCZ3|Q9UH95|Q9UHA1|Q9UMZ5 hg19 CCDS4292.1 0.02 21.174012 GCTxTAA COVERED NOVEL ADRB2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252189.1 4 23.946761 KEEP 0 3 95 113 3905 GG 1 1 0 + 14 60 499 0 0 29.53403 436 60 16131 810 ENST00000305988.4 0.031111 1 ABLIM3 22885 __UNKNOWN__ __UNKNOWN__ 5 148562890 148562890 __UNKNOWN__ Intron SNP G G A rs6886262 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:148562890G>A ENST00000506113.1 + 2 495 ABLIM3_ENST00000504238.1_Intron|ABLIM3_ENST00000508983.1_Intron|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000309868.7_Intron|ABLIM3_ENST00000356541.3_Intron|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000326685.7_Intron O94929 ABLM3_HUMAN actin binding LIM protein family, member 3 NA NA actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725) zinc ion binding (GO:0008270) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGAATTGAAGATACTTTGCA 0.438 NA G||| 1869 0.373203 0.3147 0.3069 5008 , , NA 20207 0.5228 NA 0.338 False NA ,,, NA NA NA 2504 0.3814 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB020650 CCDS4294.1 5q33.1 2008-02-05 ENSG00000173210 ENSG00000173210 22885 29132 protein-coding gene gene with protein product 611305 NA Standard NM_014945 XM_005268392 NA Approved KIAA0843 uc003lpy.2 O94929 OTTHUMG00000129932 ENST00000506113.1:c.14-125G>A chr5.hg19:g.148562890G>A NA A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32 hg19 CCDS4294.1 0.02 1.997989 GAAxATA COVERED NOVEL ABLIM3-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000373435.1 0 4.21359 KEEP 0 0 0 14 502 GG 0.995343 0.995179 0 + 4 60 147 0 0 9.504371 86 60 3256 108 ENST00000506113.1 0.044444 0.999835 ABLIM3 22885 __UNKNOWN__ __UNKNOWN__ 5 148562981 148562981 __UNKNOWN__ Intron SNP C C A rs6887628 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:148562981C>A ENST00000506113.1 + 2 495 ABLIM3_ENST00000504238.1_Intron|ABLIM3_ENST00000508983.1_Intron|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000309868.7_Intron|ABLIM3_ENST00000356541.3_Intron|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000326685.7_Intron O94929 ABLM3_HUMAN actin binding LIM protein family, member 3 NA NA actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725) zinc ion binding (GO:0008270) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGAATCAGGGCCTCTGGATAG 0.423 NA C||| 1715 0.342452 0.2368 0.281 5008 , , NA 20587 0.5208 NA 0.3171 False NA ,,, NA NA NA 2504 0.3712 NA NA NA NA 0 C 1112,3294 397.9+/-330.6 136,840,1227 80 76 77 -0.8 0 5 dbSNP_116 77 2875,5725 449.7+/-362.2 457,1961,1882 no intron ABLIM3 NM_014945.2 593,2801,3109 AA,AC,CC 33.4302,25.2383,30.6551 148562981 3987,9019 2203 4300 6503 SO:0001627 intron_variant AB020650 CCDS4294.1 5q33.1 2008-02-05 ENSG00000173210 ENSG00000173210 22885 29132 protein-coding gene gene with protein product 611305 NA Standard NM_014945 XM_005268392 NA Approved KIAA0843 uc003lpy.2 O94929 OTTHUMG00000129932 ENST00000506113.1:c.14-34C>A chr5.hg19:g.148562981C>A NA A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32 hg19 CCDS4294.1 0.02 10.80809 GGGxCTC COVERED NOVEL ABLIM3-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000373435.1 3 19.262114 KEEP 0 0 0 64 2284 CC 1 1 0 + 10 60 358 0 0 21.545814 290 60 10660 465 ENST00000506113.1 0.033333 1 AFAP1L1 134265 __UNKNOWN__ __UNKNOWN__ 5 148699940 148699940 __UNKNOWN__ Intron SNP A A C rs17796395 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:148699940A>C ENST00000296721.4 + 14 1723 AFAP1L1_ENST00000515000.1_Intron NM_001146337.1|NM_152406.2 NP_001139809.1|NP_689619.1 Q8TED9 AF1L1_HUMAN actin filament associated protein 1-like 1 NA NA cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886) breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2) 26 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTCATCGTACATTTTATTTTC 0.433 NA C||| 163 0.0325479 0.0166 0.0029 5008 , , NA 23574 0.1181 NA 0.0 False NA ,,, NA NA NA 2504 0.0204 NA NA NA NA 0 C , 68,4338 819.7+/-416.4 0,68,2135 109 100 103 , 2.2 0 5 dbSNP_123 103 6,8594 819.0+/-406.8 0,6,4294 no intron,intron AFAP1L1 NM_001146337.1,NM_152406.2 , 0,74,6429 CC,CA,AA 0.0698,1.5433,0.569 , , 148699940 74,12932 2203 4300 6503 SO:0001627 intron_variant AK094067 CCDS34274.1, CCDS54932.1 5q33.1 2013-01-10 ENSG00000157510 ENSG00000157510 134265 Pleckstrin homology (PH) domain containing 26714 protein-coding gene gene with protein product 614410 NA Standard NM_152406 NM_152406 NA Approved FLJ36748 uc003lqh.3 Q8TED9 OTTHUMG00000163441 ENST00000296721.4:c.1626-14A>C chr5.hg19:g.148699940A>C NA Q08AN4|Q08AN5|Q8IW82|Q8N8Z5|Q8N9Q4 hg19 CCDS34274.1 0.02 11.743168 TACxTTT COVERED NOVEL AFAP1L1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000373443.1 0 27.382839 KEEP 0 0 0 91 2886 AA 1 1 0 + 10 60 376 0 0 23.756115 263 60 9630 474 ENST00000296721.4 0.03663 1 AFAP1L1 134265 __UNKNOWN__ __UNKNOWN__ 5 148700031 148700031 __UNKNOWN__ Intron SNP A A T rs79225629 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:148700031A>T ENST00000296721.4 + 14 1796 AFAP1L1_ENST00000515000.1_Intron NM_001146337.1|NM_152406.2 NP_001139809.1|NP_689619.1 Q8TED9 AF1L1_HUMAN actin filament associated protein 1-like 1 NA NA cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886) breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2) 26 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGCAGGTACAGTCCCTTGGG 0.448 NA A||| 163 0.0325479 0.0166 0.0029 5008 , , NA 21840 0.1181 NA 0.0 False NA ,,, NA NA NA 2504 0.0204 NA NA NA NA 0 A , 68,4338 62.9+/-100.1 0,68,2135 84 81 82 , -0.5 0 5 dbSNP_131 82 6,8594 4.3+/-15.6 0,6,4294 no intron,intron AFAP1L1 NM_001146337.1,NM_152406.2 , 0,74,6429 TT,TA,AA 0.0698,1.5433,0.569 , , 148700031 74,12932 2203 4300 6503 SO:0001627 intron_variant AK094067 CCDS34274.1, CCDS54932.1 5q33.1 2013-01-10 ENSG00000157510 ENSG00000157510 134265 Pleckstrin homology (PH) domain containing 26714 protein-coding gene gene with protein product 614410 NA Standard NM_152406 NM_152406 NA Approved FLJ36748 uc003lqh.3 Q8TED9 OTTHUMG00000163441 ENST00000296721.4:c.1698+5A>T chr5.hg19:g.148700031A>T NA Q08AN4|Q08AN5|Q8IW82|Q8N8Z5|Q8N9Q4 hg19 CCDS34274.1 0.02 6.766684 TACxGTC COVERED NOVEL AFAP1L1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000373443.1 0 13.238223 KEEP 0 0 0 44 1355 AA 1 1 0 + 8 60 302 0 0 19.770026 174 60 6494 275 ENST00000296721.4 0.043956 1 AFAP1L1 134265 __UNKNOWN__ __UNKNOWN__ 5 148700054 148700054 __UNKNOWN__ Intron SNP T T C rs112002564 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:148700054T>C ENST00000296721.4 + 14 1796 AFAP1L1_ENST00000515000.1_Intron NM_001146337.1|NM_152406.2 NP_001139809.1|NP_689619.1 Q8TED9 AF1L1_HUMAN actin filament associated protein 1-like 1 NA NA cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886) breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2) 26 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCCCAGGAATGTGGCAAAGG 0.488 NA t||| 168 0.0335463 0.0197 0.0043 5008 , , NA 21659 0.1181 NA 0.0 False NA ,,, NA NA NA 2504 0.0204 NA NA NA NA 0 C , 80,4326 69.8+/-107.6 0,80,2123 66 64 64 , -10.5 0 5 dbSNP_132 64 6,8594 4.3+/-15.6 0,6,4294 no intron,intron AFAP1L1 NM_001146337.1,NM_152406.2 , 0,86,6417 CC,CT,TT 0.0698,1.8157,0.6612 , , 148700054 86,12920 2203 4300 6503 SO:0001627 intron_variant AK094067 CCDS34274.1, CCDS54932.1 5q33.1 2013-01-10 ENSG00000157510 ENSG00000157510 134265 Pleckstrin homology (PH) domain containing 26714 protein-coding gene gene with protein product 614410 NA Standard NM_152406 NM_152406 NA Approved FLJ36748 uc003lqh.3 Q8TED9 OTTHUMG00000163441 ENST00000296721.4:c.1698+28T>C chr5.hg19:g.148700054T>C NA Q08AN4|Q08AN5|Q8IW82|Q8N8Z5|Q8N9Q4 hg19 CCDS34274.1 0.02 2.972641 GAAxGTG COVERED NOVEL AFAP1L1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000373443.1 0 9.027127 KEEP 0 0 0 30 937 TT 0.999997 0.999997 0 + 7 60 225 0 0 13.587483 142 60 5256 199 ENST00000296721.4 0.04698 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 5 148824674 148824674 __UNKNOWN__ IGR SNP G G A rs353250 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:148824674G>A NA NA MIR145 (14378 upstream) : CSNK1A1 (47085 downstream) NA NA NA tcctgggctcgagcaatcctc 0.443 NA A||| 3918 0.782348 0.6747 0.8689 5008 , , NA 19459 0.623 NA 0.8658 False NA ,,, NA NA NA 2504 0.9448 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr5.hg19:g.148824674G>A NA hg19 0.02 -0.043866 CTCxAGC UNCOVERED NOVEL 0 1 2.4078 KEEP 0 0 0 8 278 GG 0.99257 0.023895 0 4 60 145 0 0 15.321569 1 60 37 17 0.8 0.024074 PPARGC1B 133522 __UNKNOWN__ __UNKNOWN__ 5 149216304 149216304 __UNKNOWN__ Silent SNP C C T rs45543631 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:149216304C>T ENST00000309241.5 + 8 2318 c.2286C>T c.(2284-2286)gcC>gcT p.A762A PPARGC1B_ENST00000394320.3_Silent_p.A762A|PPARGC1B_ENST00000403750.1_Silent_p.A698A|PPARGC1B_ENST00000360453.4_Silent_p.A723A NM_133263.3 NP_573570.3 Q86YN6 PRGC2_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 beta 762 NA actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366) mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104) NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) AGATCCGTGCCAGCCTCACCA 0.612 NA C||| 350 0.0698882 0.0023 0.183 5008 , , NA 19547 0.1419 NA 0.0368 False NA ,,, NA NA NA 2504 0.0409 NA NA NA NA 0 C ,, 42,4364 43.8+/-77.6 0,42,2161 99 101 101 2169,2094,2286 4.9 1 5 dbSNP_127 101 347,8253 118.3+/-177.8 8,331,3961 no coding-synonymous,coding-synonymous,coding-synonymous PPARGC1B NM_001172698.1,NM_001172699.1,NM_133263.3 ,, 8,373,6122 TT,TC,CC 4.0349,0.9532,2.9909 ,, 723/985,698/960,762/1024 149216304 389,12617 2203 4300 6503 SO:0001819 synonymous_variant AF468496 CCDS4298.1, CCDS54933.1, CCDS54934.1 5q33.1 2013-02-12 2006-10-17 ENSG00000155846 ENSG00000155846 133522 RNA binding motif (RRM) containing 30022 protein-coding gene gene with protein product 608886 peroxisome proliferative activated receptor, gamma, coactivator 1, beta NA 11793024, 11854298 Standard NM_133263 NM_133263 NA Approved PERC, PGC1B uc003lrc.3 Q86YN6 OTTHUMG00000130055 ENST00000309241.5:c.2286C>T chr5.hg19:g.149216304C>T NA A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5 hg19 CCDS4298.1 0.02 9.071339 TGCxAGC COVERED 174 0.07967032967032966 3 0.006097560975609756 60 0.16574585635359115 81 0.14160839160839161 30 0.0395778364116095 C 7.364 0.625396 0.14257 0.009532 0.040349 ENSG00000155846 ENST00000434684 . . . 4.93 4.93 0.64822 . . . . . . . . . . . 0.09310 P 0.9999999999999988 . . . . . . . . . . . . . -26.2125 13.4791 0.61326 0.1565:0.8435:0.0:0.0 rs45543631;rs61749641 . . . X 449 . . Q + 1 0 PPARGC1B 149196497 1.000000 0.71417 1.000000 0.80357 0.818000 0.46254 2.183000 0.42565 2.440000 0.82611 0.462000 0.41574 CAG NOVEL PPARGC1B-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000252334.1 2 14.446801 KEEP 0 0 0 48 1694 CC 1 1 0 + 7 60 267 0 0 16.343629 230 60 8641 353 ENST00000309241.5 0.029536 1 PPARGC1B 133522 __UNKNOWN__ __UNKNOWN__ 5 149227540 149227540 __UNKNOWN__ 3'UTR SNP T T C rs76174857 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:149227540T>C ENST00000309241.5 + 0 3523 NM_133263.3 NP_573570.3 Q86YN6 PRGC2_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 beta NA NA actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366) mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104) NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) ATAAACTTCATTTTTAATTGA 0.313 NA T||| 278 0.0555112 0.0015 0.183 5008 , , NA 20199 0.0734 NA 0.0368 False NA ,,, NA NA NA 2504 0.0389 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF468496 CCDS4298.1, CCDS54933.1, CCDS54934.1 5q33.1 2013-02-12 2006-10-17 ENSG00000155846 ENSG00000155846 133522 RNA binding motif (RRM) containing 30022 protein-coding gene gene with protein product 608886 peroxisome proliferative activated receptor, gamma, coactivator 1, beta NA 11793024, 11854298 Standard NM_133263 NM_133263 NA Approved PERC, PGC1B uc003lrc.3 Q86YN6 OTTHUMG00000130055 ENST00000309241.5:c.*419T>C chr5.hg19:g.149227540T>C NA A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5 hg19 CCDS4298.1 0.02 14.385133 TCAxTTT COVERED NOVEL PPARGC1B-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000252334.1 2 6.619568 KEEP 0 0 0 22 692 TT 0.999879 0.999879 0 + 15 60 565 0 0 37.782482 286 60 10255 357 ENST00000309241.5 0.049834 1 PPARGC1B 133522 __UNKNOWN__ __UNKNOWN__ 5 149233110 149233110 __UNKNOWN__ 3'UTR SNP C C A rs7712296 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:149233110C>A ENST00000309241.5 + 0 9093 NM_133263.3 NP_573570.3 Q86YN6 PRGC2_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 beta NA NA actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366) mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104) NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) GGTCCGAATTCTGCCCTCAAG 0.488 NA OREG0016924 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) A||| 536 0.107029 0.115 0.2061 5008 , , NA 17611 0.1399 NA 0.0507 False NA ,,, NA NA NA 2504 0.0501 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF468496 CCDS4298.1, CCDS54933.1, CCDS54934.1 5q33.1 2013-02-12 2006-10-17 ENSG00000155846 ENSG00000155846 133522 RNA binding motif (RRM) containing 30022 protein-coding gene gene with protein product 608886 peroxisome proliferative activated receptor, gamma, coactivator 1, beta NA 11793024, 11854298 Standard NM_133263 NM_133263 NA Approved PERC, PGC1B uc003lrc.3 Q86YN6 OTTHUMG00000130055 ENST00000309241.5:c.*5989C>A chr5.hg19:g.149233110C>A 1723 A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5 hg19 CCDS4298.1 0.02 1.899745 ATTxTGC COVERED NOVEL PPARGC1B-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000252334.1 0 7.825396 KEEP 0 0 0 26 929 CC 0.999957 0.999792 0 + 5 60 175 0 0 11.509621 85 60 3154 142 ENST00000309241.5 0.055556 0.999835 PPARGC1B 133522 __UNKNOWN__ __UNKNOWN__ 5 149233555 149233555 __UNKNOWN__ 3'UTR SNP A A G rs3733665 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:149233555A>G ENST00000309241.5 + 0 9538 NM_133263.3 NP_573570.3 Q86YN6 PRGC2_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 beta NA NA actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366) mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104) NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) TAATGTTGAAACCAACACGAG 0.532 NA A||| 389 0.0776757 0.0083 0.0706 5008 , , NA 16329 0.1438 NA 0.1332 False NA ,,, NA NA NA 2504 0.0511 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF468496 CCDS4298.1, CCDS54933.1, CCDS54934.1 5q33.1 2013-02-12 2006-10-17 ENSG00000155846 ENSG00000155846 133522 RNA binding motif (RRM) containing 30022 protein-coding gene gene with protein product 608886 peroxisome proliferative activated receptor, gamma, coactivator 1, beta NA 11793024, 11854298 Standard NM_133263 NM_133263 NA Approved PERC, PGC1B uc003lrc.3 Q86YN6 OTTHUMG00000130055 ENST00000309241.5:c.*6434A>G chr5.hg19:g.149233555A>G NA A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5 hg19 CCDS4298.1 0.02 6.317629 GAAxCCA COVERED NOVEL PPARGC1B-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000252334.1 0 13.239006 KEEP 0 0 0 44 1356 AA 1 1 0 + 7 60 250 0 0 15.187061 192 60 6633 285 ENST00000309241.5 0.035176 1 PDE6A 5145 __UNKNOWN__ __UNKNOWN__ 5 149238264 149238264 __UNKNOWN__ 3'UTR SNP C C T rs30886 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:149238264C>T ENST00000255266.5 - 0 4896 NM_000440.2 NP_000431.2 P16499 PDE6A_HUMAN phosphodiesterase 6A, cGMP-specific, rod, alpha NA NA cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601) photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886) 3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872) breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 44 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) Caffeine(DB00201) attgcttgagcccgggcagct 0.517 NA C||| 2041 0.407548 0.2511 0.4755 5008 , , NA 14859 0.5258 NA 0.5268 False NA ,,, NA NA NA 2504 0.3262 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS4299.1 5q31.2-q34 2013-02-14 ENSG00000132915 ENSG00000132915 5145 3.1.4.17 Phosphodiesterases 8785 protein-coding gene gene with protein product 180071 PDEA NA 2155175 Standard NM_000440 NA Approved RP43 uc003lrg.4 P16499 OTTHUMG00000130047 ENST00000255266.5:c.*2194G>A chr5.hg19:g.149238264C>T NA Q0P638 hg19 CCDS4299.1 0.02 3.976464 GAGxCCG COVERED NOVEL PDE6A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252326.2 20 5.787339 KEEP 0 2 56 39 1371 CC 1 0.999996 0 - 5 60 180 0 0 11.476612 109 60 4029 167 ENST00000255266.5 0.04386 0.999996 PDE6A 5145 __UNKNOWN__ __UNKNOWN__ 5 149238348 149238348 __UNKNOWN__ 3'UTR SNP T T C rs759816 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:149238348T>C ENST00000255266.5 - 0 4812 NM_000440.2 NP_000431.2 P16499 PDE6A_HUMAN phosphodiesterase 6A, cGMP-specific, rod, alpha NA NA cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601) photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886) 3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872) breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 44 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) Caffeine(DB00201) tcatgaaagatagagaaagag 0.493 NA T||| 2700 0.539137 0.6354 0.5922 5008 , , NA 13849 0.5188 NA 0.5567 False NA ,,, NA NA NA 2504 0.3742 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS4299.1 5q31.2-q34 2013-02-14 ENSG00000132915 ENSG00000132915 5145 3.1.4.17 Phosphodiesterases 8785 protein-coding gene gene with protein product 180071 PDEA NA 2155175 Standard NM_000440 NA Approved RP43 uc003lrg.4 P16499 OTTHUMG00000130047 ENST00000255266.5:c.*2110A>G chr5.hg19:g.149238348T>C NA Q0P638 hg19 CCDS4299.1 0.02 2.071564 AGAxAGA COVERED NOVEL PDE6A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252326.2 33 13.675414 KEEP 0 2 76 72 2162 TT 1 0.999895 0 - 5 60 185 0 0 12.452836 87 60 3139 191 ENST00000255266.5 0.054348 0.999895 PDE6A 5145 __UNKNOWN__ __UNKNOWN__ 5 149239093 149239093 __UNKNOWN__ 3'UTR SNP C C T rs888895 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:149239093C>T ENST00000255266.5 - 0 4067 NM_000440.2 NP_000431.2 P16499 PDE6A_HUMAN phosphodiesterase 6A, cGMP-specific, rod, alpha NA NA cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601) photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886) 3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872) breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 44 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) Caffeine(DB00201) gtgagcccagcgacagcctta 0.592 NA c||| 2803 0.559704 0.6702 0.6167 5008 , , NA 19431 0.5278 NA 0.5964 False NA ,,, NA NA NA 2504 0.365 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS4299.1 5q31.2-q34 2013-02-14 ENSG00000132915 ENSG00000132915 5145 3.1.4.17 Phosphodiesterases 8785 protein-coding gene gene with protein product 180071 PDEA NA 2155175 Standard NM_000440 NA Approved RP43 uc003lrg.4 P16499 OTTHUMG00000130047 ENST00000255266.5:c.*1365G>A chr5.hg19:g.149239093C>T NA Q0P638 hg19 CCDS4299.1 0.02 4.374532 CAGxGAC COVERED NOVEL PDE6A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252326.2 0 5.116398 KEEP 0 0 0 17 585 CC 0.999366 0.999366 0 - 9 60 333 0 0 23.182821 128 60 4491 176 ENST00000255266.5 0.065693 1 PDE6A 5145 __UNKNOWN__ __UNKNOWN__ 5 149239850 149239850 __UNKNOWN__ 3'UTR SNP A A G rs4705389 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:149239850A>G ENST00000255266.5 - 0 3310 NM_000440.2 NP_000431.2 P16499 PDE6A_HUMAN phosphodiesterase 6A, cGMP-specific, rod, alpha NA NA cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601) photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886) 3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872) breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 44 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) Caffeine(DB00201) ttgatattggaatctgggtga 0.313 NA A||| 2926 0.584265 0.7466 0.6268 5008 , , NA 20739 0.5308 NA 0.5964 False NA ,,, NA NA NA 2504 0.3773 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS4299.1 5q31.2-q34 2013-02-14 ENSG00000132915 ENSG00000132915 5145 3.1.4.17 Phosphodiesterases 8785 protein-coding gene gene with protein product 180071 PDEA NA 2155175 Standard NM_000440 NA Approved RP43 uc003lrg.4 P16499 OTTHUMG00000130047 ENST00000255266.5:c.*608T>C chr5.hg19:g.149239850A>G NA Q0P638 hg19 CCDS4299.1 0.02 7.14149 TGGxATC COVERED NOVEL PDE6A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252326.2 6 9.36022 KEEP 0 1 34 43 1327 AA 1 1 0 - 6 60 223 0 0 14.023659 156 60 5696 268 ENST00000255266.5 0.037037 1 HMGXB3 22993 __UNKNOWN__ __UNKNOWN__ 5 149380493 149380493 __UNKNOWN__ 5'UTR SNP G G A rs4705403 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:149380493G>A ENST00000502717.1 + 0 213 TIGD6_ENST00000296736.3_5'UTR|HMGXB3_ENST00000503427.1_5'UTR NM_014983.2 NP_055798 Q12766 HMGX3_HUMAN HMG box domain containing 3 NA NA phosphorylation (GO:0016310) nucleus (GO:0005634) DNA binding (GO:0003677)|kinase activity (GO:0016301) central_nervous_system(1)|endometrium(3)|kidney(3)|skin(2) 9 CGACTCCGAGGAGGGGAAGCG 0.736 NA G||| 571 0.114018 0.09 0.2579 5008 , , NA 14035 0.0992 NA 0.1292 False NA ,,, NA NA NA 2504 0.044 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant D83778 CCDS54935.1 5q33.1 2011-07-01 2009-01-05 ENSG00000113716 ENSG00000113716 22993 High mobility group / Non-canonical 28982 protein-coding gene gene with protein product HMGX3 NA 8724849 Standard XM_001717202 NM_014983 NA Approved SMF, KIAA0194 uc003lrk.4 Q12766 OTTHUMG00000163493 ENST00000502717.1:c.-252G>A chr5.hg19:g.149380493G>A NA G5E9Y4|Q86UG3|Q9UMF4 hg19 CCDS54935.1 0.02 5.628177 GAGxAGG COVERED NOVEL HMGXB3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000373771.1 2 37.920686 KEEP 0 0 0 126 4366 GG 1 1 0 + 7 60 247 0 0 14.90142 191 60 6982 410 ENST00000502717.1 0.035354 1 HMGXB3 22993 __UNKNOWN__ __UNKNOWN__ 5 149421502 149421502 __UNKNOWN__ Silent SNP A A G rs2276982 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:149421502A>G ENST00000502717.1 + 15 3164 c.2700A>G c.(2698-2700)gaA>gaG p.E900E HMGXB3_ENST00000503427.1_Silent_p.E868E NM_014983.2 NP_055798 Q12766 HMGX3_HUMAN HMG box domain containing 3 1146 NA phosphorylation (GO:0016310) nucleus (GO:0005634) DNA binding (GO:0003677)|kinase activity (GO:0016301) central_nervous_system(1)|endometrium(3)|kidney(3)|skin(2) 9 AGAGGAGTGAAGAGAATGTGC 0.517 NA A||| 1333 0.266174 0.6346 0.3012 5008 , , NA 20075 0.1032 NA 0.1302 False NA ,,, NA NA NA 2504 0.0511 NA NA NA NA 0 A 803,581 233,337,122 104 80 87 2700 0.9 1 5 dbSNP_100 87 384,2798 28,328,1235 no coding-synonymous HMGXB3 NM_014983.2 261,665,1357 GG,GA,AA 12.0679,41.9798,25.9965 900/1293 149421502 1187,3379 692 1591 2283 SO:0001819 synonymous_variant D83778 CCDS54935.1 5q33.1 2011-07-01 2009-01-05 ENSG00000113716 ENSG00000113716 22993 High mobility group / Non-canonical 28982 protein-coding gene gene with protein product HMGX3 NA 8724849 Standard XM_001717202 NM_014983 NA Approved SMF, KIAA0194 uc003lrk.4 Q12766 OTTHUMG00000163493 ENST00000502717.1:c.2700A>G chr5.hg19:g.149421502A>G NA G5E9Y4|Q86UG3|Q9UMF4 hg19 CCDS54935.1 0.02 9.490924 TGAxGAG COVERED NOVEL HMGXB3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000373771.1 1 15.346348 KEEP 0 0 0 51 1642 AA 1 1 0 + 7 60 273 0 0 17.287035 205 60 7538 338 ENST00000502717.1 0.033019 1 CSF1R 1436 __UNKNOWN__ __UNKNOWN__ 5 149432863 149432863 __UNKNOWN__ 3'UTR SNP T T C rs3828609 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:149432863T>C ENST00000286301.3 - 0 3979 NM_005211.3 NP_005202.2 P07333 CSF1R_HUMAN colony stimulating factor 1 receptor NA NA cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803) NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 93 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) Imatinib(DB00619)|Sunitinib(DB01268) CTGACTGCATTAATGCTGTTA 0.493 NA T||| 822 0.164137 0.2269 0.2839 5008 , , NA 21565 0.1319 NA 0.1441 False NA ,,, NA NA NA 2504 0.0481 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U63963 CCDS4302.1 5q32 2013-01-11 2008-08-01 ENSG00000182578 ENSG00000182578 1436 CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 2433 protein-coding gene gene with protein product 164770 McDonough feline sarcoma viral (v-fms) oncogene homolog FMS NA 1611909 Standard NM_005211 NM_005211 NA Approved C-FMS, CSFR, CD115 uc003lrm.3 P07333 OTTHUMG00000130050 ENST00000286301.3:c.*769A>G chr5.hg19:g.149432863T>C NA B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7 hg19 CCDS4302.1 0.02 7.531029 CATxAAT COVERED NOVEL CSF1R-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252329.2 2 12.938649 KEEP 0 0 0 43 1330 TT 1 1 0 - 12 60 471 1 0 33.509215 174 60 6144 276 ENST00000286301.3 0.064516 1 CSF1R 1436 __UNKNOWN__ __UNKNOWN__ 5 149433120 149433120 __UNKNOWN__ 3'UTR SNP A A G rs13117 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:149433120A>G ENST00000286301.3 - 0 3722 NM_005211.3 NP_005202.2 P07333 CSF1R_HUMAN colony stimulating factor 1 receptor NA NA cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803) NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 93 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) Imatinib(DB00619)|Sunitinib(DB01268) GGCAGAGACTAAGAGGTCCTG 0.567 NA A||| 581 0.116014 0.2216 0.0202 5008 , , NA 19633 0.1825 NA 0.0388 False NA ,,, NA NA NA 2504 0.0521 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U63963 CCDS4302.1 5q32 2013-01-11 2008-08-01 ENSG00000182578 ENSG00000182578 1436 CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 2433 protein-coding gene gene with protein product 164770 McDonough feline sarcoma viral (v-fms) oncogene homolog FMS NA 1611909 Standard NM_005211 NM_005211 NA Approved C-FMS, CSFR, CD115 uc003lrm.3 P07333 OTTHUMG00000130050 ENST00000286301.3:c.*512T>C chr5.hg19:g.149433120A>G NA B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7 hg19 CCDS4302.1 0.02 10.271825 ACTxAGA COVERED NOVEL CSF1R-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252329.2 1 14.139851 KEEP 0 0 0 47 1399 AA 1 1 0 - 7 60 281 0 0 18.056789 207 60 7305 308 ENST00000286301.3 0.03271 1 CSF1R 1436 __UNKNOWN__ __UNKNOWN__ 5 149433322 149433322 __UNKNOWN__ 3'UTR SNP G G T rs41497048 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:149433322G>T ENST00000286301.3 - 0 3520 NM_005211.3 NP_005202.2 P07333 CSF1R_HUMAN colony stimulating factor 1 receptor NA NA cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803) NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 93 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) Imatinib(DB00619)|Sunitinib(DB01268) TTTCCATGAAGATAAGGGGAT 0.517 NA G||| 635 0.126797 0.2663 0.2133 5008 , , NA 21734 0.0982 NA 0.0249 False NA ,,, NA NA NA 2504 0.0112 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U63963 CCDS4302.1 5q32 2013-01-11 2008-08-01 ENSG00000182578 ENSG00000182578 1436 CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 2433 protein-coding gene gene with protein product 164770 McDonough feline sarcoma viral (v-fms) oncogene homolog FMS NA 1611909 Standard NM_005211 NM_005211 NA Approved C-FMS, CSFR, CD115 uc003lrm.3 P07333 OTTHUMG00000130050 ENST00000286301.3:c.*310C>A chr5.hg19:g.149433322G>T NA B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7 hg19 CCDS4302.1 0.02 5.747723 GAAxATA COVERED NOVEL CSF1R-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252329.2 1 12.940484 KEEP 0 0 0 43 1481 GG 1 1 0 - 6 60 206 0 0 12.15709 167 70 6203 263 ENST00000286301.3 0.034682 1 CSF1R 1436 __UNKNOWN__ __UNKNOWN__ 5 149456811 149456811 __UNKNOWN__ Intron SNP G G A rs3829987 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:149456811G>A ENST00000286301.3 - 6 1181 CSF1R_ENST00000543093.1_Intron NM_005211.3 NP_005202.2 P07333 CSF1R_HUMAN colony stimulating factor 1 receptor NA NA cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803) NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 93 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) Imatinib(DB00619)|Sunitinib(DB01268) GATCCCTACCGACTGTCCACC 0.562 NA g||| 986 0.196885 0.4024 0.2147 5008 , , NA 19538 0.2222 NA 0.0308 False NA ,,, NA NA NA 2504 0.0511 NA NA NA NA 0 A 1477,2929 475.5+/-357.3 254,969,980 99 94 96 -6.1 0 5 dbSNP_107 96 267,8333 102.5+/-163.7 5,257,4038 no intron CSF1R NM_005211.3 259,1226,5018 AA,AG,GG 3.1047,33.5225,13.4092 149456811 1744,11262 2203 4300 6503 SO:0001627 intron_variant U63963 CCDS4302.1 5q32 2013-01-11 2008-08-01 ENSG00000182578 ENSG00000182578 1436 CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 2433 protein-coding gene gene with protein product 164770 McDonough feline sarcoma viral (v-fms) oncogene homolog FMS NA 1611909 Standard NM_005211 NM_005211 NA Approved C-FMS, CSFR, CD115 uc003lrm.3 P07333 OTTHUMG00000130050 ENST00000286301.3:c.889+27C>T chr5.hg19:g.149456811G>A NA B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7 hg19 CCDS4302.1 0.02 27.725127 ACCxACT COVERED NOVEL CSF1R-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252329.2 1 8.164037 KEEP 0 4 125 71 2380 GG 1 1 0 - 18 60 662 0 0 38.548648 677 60 23185 952 ENST00000286301.3 0.025899 1 CSF1R 1436 __UNKNOWN__ __UNKNOWN__ 5 149460343 149460343 __UNKNOWN__ Silent SNP G G A rs17652007 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:149460343G>A ENST00000286301.3 - 3 585 c.294C>T c.(292-294)caC>caT p.H98H CSF1R_ENST00000543093.1_Silent_p.H98H NM_005211.3 NP_005202.2 P07333 CSF1R_HUMAN colony stimulating factor 1 receptor 98 Ig-like C2-type 1. NA cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803) p.H98H(1) NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 93 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) Imatinib(DB00619)|Sunitinib(DB01268) TGACATAGAGGTGGATGGCGG 0.577 NA G||| 389 0.0776757 0.0242 0.1643 5008 , , NA 21745 0.2302 NA 0.006 False NA ,,, NA NA NA 2504 0.0051 NA NA NA NA 1 Substitution - coding silent(1) central_nervous_system(1) G 109,4297 84.8+/-123.5 0,109,2094 56 45 49 294 1.7 1 5 dbSNP_123 49 40,8560 26.8+/-75.7 0,40,4260 no coding-synonymous CSF1R NM_005211.3 0,149,6354 AA,AG,GG 0.4651,2.4739,1.1456 98/973 149460343 149,12857 2203 4300 6503 SO:0001819 synonymous_variant U63963 CCDS4302.1 5q32 2013-01-11 2008-08-01 ENSG00000182578 ENSG00000182578 1436 CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 2433 protein-coding gene gene with protein product 164770 McDonough feline sarcoma viral (v-fms) oncogene homolog FMS NA 1611909 Standard NM_005211 NM_005211 NA Approved C-FMS, CSFR, CD115 uc003lrm.3 P07333 OTTHUMG00000130050 ENST00000286301.3:c.294C>T chr5.hg19:g.149460343G>A NA B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7 hg19 CCDS4302.1 0.02 4.590632 GAGxTGG COVERED NOVEL CSF1R-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252329.2 0 9.630976 KEEP 0 0 0 32 1114 GG 0.999997 0.999997 0 - 10 60 388 0 0 28.126332 124 60 4520 200 ENST00000286301.3 0.074627 1 CSF1R 1436 __UNKNOWN__ __UNKNOWN__ 5 149474423 149474423 __UNKNOWN__ Intron SNP G G A rs115303432 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:149474423G>A ENST00000286301.3 - 2 112 NM_005211.3 NP_005202.2 P07333 CSF1R_HUMAN colony stimulating factor 1 receptor NA NA cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803) NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 93 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) Imatinib(DB00619)|Sunitinib(DB01268) CATCATCTGCGTGGAGGATTT 0.413 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U63963 CCDS4302.1 5q32 2013-01-11 2008-08-01 ENSG00000182578 ENSG00000182578 1436 CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 2433 protein-coding gene gene with protein product 164770 McDonough feline sarcoma viral (v-fms) oncogene homolog FMS NA 1611909 Standard NM_005211 NM_005211 NA Approved C-FMS, CSFR, CD115 uc003lrm.3 P07333 OTTHUMG00000130050 ENST00000286301.3:c.180-8253C>T chr5.hg19:g.149474423G>A NA B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7 hg19 CCDS4302.1 0.02 -0.307011 TGCxTGG COVERED NOVEL CSF1R-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252329.2 0 2.407872 KEEP 11 0 0 8 282 GG 0.99257 0.7943 0 - 3 40 106 0 0 7.586622 32 50 1151 67 ENST00000286301.3 0.085714 0.800245 PDGFRB 5159 __UNKNOWN__ __UNKNOWN__ 5 149512279 149512279 __UNKNOWN__ Intron SNP C C A rs186488390 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:149512279C>A ENST00000261799.4 - 7 1597 NM_002609.3 NP_002600.1 P09619 PGFRB_HUMAN platelet-derived growth factor receptor, beta polypeptide NA NA adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060) apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085) breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1) 75 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268) AGAAAAATAACTTCAAGAATG 0.602 NA T ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP MPD, AML, CMML, CML C||| 26 0.00519169 0.0 0.0014 5008 , , NA 17981 0.0238 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA Dom yes 5 5q31-q32 5159 platelet-derived growth factor receptor, beta polypeptide L 0 15 17 16 NA NA 5 NA 149512279 2201 4300 6501 SO:0001627 intron_variant M21616 CCDS4303.1 5q33.1 2013-01-29 ENSG00000113721 ENSG00000113721 5159 CD molecules, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 8804 protein-coding gene gene with protein product 173410 PDGFR NA Standard NM_002609 XM_005268464 NA Approved JTK12, CD140b, PDGFR1 uc003lro.3 P09619 OTTHUMG00000130053 ENST00000261799.4:c.1127+33G>T chr5.hg19:g.149512279C>A NA B5A957|Q8N5L4 hg19 CCDS4303.1 0.02 4.657676 TAAxTTC COVERED NOVEL PDGFRB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252332.1 1 24.362857 KEEP 0 0 0 81 2852 CC 1 0.999997 0 - 6 60 226 0 0 15.234527 109 60 4087 255 ENST00000261799.4 0.052174 0.999997 PDGFRB 5159 __UNKNOWN__ __UNKNOWN__ 5 149512289 149512289 __UNKNOWN__ Intron SNP G G T rs189808094 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:149512289G>T ENST00000261799.4 - 7 1597 NM_002609.3 NP_002600.1 P09619 PGFRB_HUMAN platelet-derived growth factor receptor, beta polypeptide NA NA adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060) apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085) breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1) 75 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268) CTTCAAGAATGGGATGGGAGA 0.582 NA T ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP MPD, AML, CMML, CML G||| 26 0.00519169 0.0 0.0014 5008 , , NA 18162 0.0238 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA Dom yes 5 5q31-q32 5159 platelet-derived growth factor receptor, beta polypeptide L 0 20 21 20 NA NA 5 NA 149512289 2203 4300 6503 SO:0001627 intron_variant M21616 CCDS4303.1 5q33.1 2013-01-29 ENSG00000113721 ENSG00000113721 5159 CD molecules, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 8804 protein-coding gene gene with protein product 173410 PDGFR NA Standard NM_002609 XM_005268464 NA Approved JTK12, CD140b, PDGFR1 uc003lro.3 P09619 OTTHUMG00000130053 ENST00000261799.4:c.1127+23C>A chr5.hg19:g.149512289G>T NA B5A957|Q8N5L4 hg19 CCDS4303.1 0.02 4.249422 AATxGGA COVERED NOVEL PDGFRB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252332.1 1 26.186106 KEEP 0 0 0 87 3146 GG 1 0.999998 0 - 6 60 221 0 0 14.711452 110 60 4215 270 ENST00000261799.4 0.051724 0.999998 ARSI 340075 __UNKNOWN__ __UNKNOWN__ 5 149676293 149676293 __UNKNOWN__ 3'UTR SNP G G A rs62382674 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:149676293G>A ENST00000328668.7 - 0 2773 NM_001012301.2 NP_001012301.1 Q5FYB1 ARSI_HUMAN arylsulfatase family, member I NA NA cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665) endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576) arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 23 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CACAGCGCTTGGGGGTCCCTG 0.637 NA G||| 315 0.0628994 0.0257 0.0447 5008 , , NA 16184 0.0675 NA 0.0825 False NA ,,, NA NA NA 2504 0.1012 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY875937 CCDS34275.1 5q32 2014-03-03 2006-03-07 ENSG00000183876 340075 Arylsulfatase family 32521 protein-coding gene gene with protein product 610009 arylsulfatase I NA 16174644, 24482476 Standard NM_001012301 NM_001012301 NA Approved FLJ16069, SPG66 uc003lrv.2 Q5FYB1 ENST00000328668.7:c.*484C>T chr5.hg19:g.149676293G>A NA A1L3B0|B3KV22|B7XD03 hg19 CCDS34275.1 0.02 8.738911 CTTxGGG COVERED NOVEL ARSI-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000373681.1 0 15.650503 KEEP 0 0 0 52 1857 GG 1 1 0 - 7 60 262 0 0 16.187404 205 60 7657 347 ENST00000328668.7 0.033019 1 CD74 972 __UNKNOWN__ __UNKNOWN__ 5 149781627 149781627 __UNKNOWN__ 3'UTR SNP T T C rs1056400 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:149781627T>C ENST00000353334.6 - 0 1054 CD74_ENST00000377795.3_3'UTR|CD74_ENST00000524315.1_Intron NM_001025159.2|NM_004355.3 NP_001020330.1|NP_004346.1 P04233 HG2A_HUMAN CD74 molecule, major histocompatibility complex, class II invariant chain NA NA activation of MAPK activity (GO:0000187)|antigen processing and presentation of endogenous antigen (GO:0019883)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell proliferation (GO:0008283)|chaperone mediated protein folding requiring cofactor (GO:0051085)|defense response (GO:0006952)|immunoglobulin mediated immune response (GO:0016064)|intracellular protein transport (GO:0006886)|macrophage migration inhibitory factor signaling pathway (GO:0035691)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of mature B cell apoptotic process (GO:0002906)|negative regulation of peptide secretion (GO:0002792)|negative regulation of T cell differentiation (GO:0045581)|negative thymic T cell selection (GO:0045060)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000343)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of type 2 immune response (GO:0002830)|positive thymic T cell selection (GO:0045059)|prostaglandin biosynthetic process (GO:0001516)|protein complex assembly (GO:0006461)|regulation of macrophage activation (GO:0043030)|signal transduction (GO:0007165)|T cell selection (GO:0045058) cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|macrophage migration inhibitory factor receptor complex (GO:0035692)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)|NOS2-CD74 complex (GO:0035693)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)|vacuole (GO:0005773) beta-amyloid binding (GO:0001540)|cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|identical protein binding (GO:0042802)|macrophage migration inhibitory factor binding (GO:0035718)|MHC class II protein binding (GO:0042289)|MHC class II protein binding, via antigen binding groove (GO:0042658)|MHC class II protein complex binding (GO:0023026)|protein binding involved in protein folding (GO:0044183) breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1) 5 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGCTGCATTGTTATCTGCTGT 0.567 NA T ROS1 NSCLC T||| 463 0.0924521 0.0053 0.0461 5008 , , NA 19443 0.2272 NA 0.1163 False NA ,,, NA NA NA 2504 0.0798 NA NA NA Dom yes 5 5q32 972 CD74 molecule, major histocompatibility complex, class II invariant chain E 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS34276.1, CCDS47308.1, CCDS47309.1 5q32 2012-09-20 2006-03-28 ENSG00000019582 ENSG00000019582 972 CD molecules 1697 protein-coding gene gene with protein product HLA-DR-gamma, Ia-associated invariant chain, gamma chain of class II antigens, MHC HLA-DR gamma chain 142790 CD74 antigen (invariant polypeptide of major histocompatibility complex, class II antigen-associated) DHLAG NA 6324166, 3001652 Standard NM_004355 NM_004355 NA Approved uc003lsc.3 P04233 OTTHUMG00000163559 ENST00000353334.6:c.*176A>G chr5.hg19:g.149781627T>C NA A8K7R1|B4DNE8|D3DQG3|D3DQG4|Q14597|Q29832|Q5U0J8|Q8SNA0|Q8WLP6 hg19 CCDS47308.1 0.02 18.994585 TTGxTAT COVERED NOVEL CD74-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000374176.1 3 25.57484 KEEP 0 0 0 85 2747 TT 1 1 0 - 16 60 585 0 0 36.861886 418 60 14899 616 ENST00000353334.6 0.036866 1 CD74 972 __UNKNOWN__ __UNKNOWN__ 5 149792337 149792337 __UNKNOWN__ 5'UTR SNP C C T rs55796634 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:149792337C>T ENST00000353334.6 - 0 155 NM_001025159.2|NM_004355.3 NP_001020330.1|NP_004346.1 P04233 HG2A_HUMAN CD74 molecule, major histocompatibility complex, class II invariant chain NA NA activation of MAPK activity (GO:0000187)|antigen processing and presentation of endogenous antigen (GO:0019883)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell proliferation (GO:0008283)|chaperone mediated protein folding requiring cofactor (GO:0051085)|defense response (GO:0006952)|immunoglobulin mediated immune response (GO:0016064)|intracellular protein transport (GO:0006886)|macrophage migration inhibitory factor signaling pathway (GO:0035691)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of mature B cell apoptotic process (GO:0002906)|negative regulation of peptide secretion (GO:0002792)|negative regulation of T cell differentiation (GO:0045581)|negative thymic T cell selection (GO:0045060)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000343)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of type 2 immune response (GO:0002830)|positive thymic T cell selection (GO:0045059)|prostaglandin biosynthetic process (GO:0001516)|protein complex assembly (GO:0006461)|regulation of macrophage activation (GO:0043030)|signal transduction (GO:0007165)|T cell selection (GO:0045058) cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|macrophage migration inhibitory factor receptor complex (GO:0035692)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)|NOS2-CD74 complex (GO:0035693)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)|vacuole (GO:0005773) beta-amyloid binding (GO:0001540)|cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|identical protein binding (GO:0042802)|macrophage migration inhibitory factor binding (GO:0035718)|MHC class II protein binding (GO:0042289)|MHC class II protein binding, via antigen binding groove (GO:0042658)|MHC class II protein complex binding (GO:0023026)|protein binding involved in protein folding (GO:0044183) breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1) 5 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCCCGGCTCGCCTCTTAAAGT 0.557 NA T ROS1 NSCLC C||| 628 0.125399 0.1339 0.0562 5008 , , NA 16235 0.2272 NA 0.0934 False NA ,,, NA NA NA 2504 0.091 NA NA NA Dom yes 5 5q32 972 CD74 molecule, major histocompatibility complex, class II invariant chain E 0 C 555,3851 249.0+/-256.6 30,495,1678 94 97 96 3 1 5 dbSNP_129 96 853,7747 192.8+/-238.7 41,771,3488 no near-gene-5 71,1266,5166 TT,TC,CC 9.9186,12.5965,10.8258 149792337 1408,11598 2203 4300 6503 SO:0001623 5_prime_UTR_variant CCDS34276.1, CCDS47308.1, CCDS47309.1 5q32 2012-09-20 2006-03-28 ENSG00000019582 ENSG00000019582 972 CD molecules 1697 protein-coding gene gene with protein product HLA-DR-gamma, Ia-associated invariant chain, gamma chain of class II antigens, MHC HLA-DR gamma chain 142790 CD74 antigen (invariant polypeptide of major histocompatibility complex, class II antigen-associated) DHLAG NA 6324166, 3001652 Standard NM_004355 NM_004355 NA Approved uc003lsc.3 P04233 OTTHUMG00000163559 ENST00000353334.6:c.-25G>A chr5.hg19:g.149792337C>T NA A8K7R1|B4DNE8|D3DQG3|D3DQG4|Q14597|Q29832|Q5U0J8|Q8SNA0|Q8WLP6 hg19 CCDS47308.1 0.02 16.117062 TCGxCTC COVERED NOVEL CD74-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000374176.1 3 69.76179 KEEP 0 0 0 232 8200 CC 1 1 0 - 12 60 415 0 1 23.61121 409 60 14649 886 ENST00000353334.6 0.028504 1 NDST1 3340 __UNKNOWN__ __UNKNOWN__ 5 149914631 149914631 __UNKNOWN__ Intron SNP G G A rs2909809 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:149914631G>A ENST00000523767.1 + 5 1840 NDST1_ENST00000261797.6_Intron P52848 NDST1_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 NA NA carbohydrate metabolic process (GO:0005975)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|midbrain development (GO:0030901)|polysaccharide biosynthetic process (GO:0000271)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224) Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021) [heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213) breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 34 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TAAGGGCTGGGCTGGAGGTCC 0.572 NA G||| 1395 0.278554 0.4183 0.2421 5008 , , NA 18071 0.2143 NA 0.2127 False NA ,,, NA NA NA 2504 0.2495 NA NA NA NA 0 G 1599,2807 311,977,915 43 33 36 1.9 0.7 5 dbSNP_101 36 1785,6811 187,1411,2700 no intron NDST1 NM_001543.4 498,2388,3615 AA,AG,GG 20.7655,36.2914,26.0268 149914631 3384,9618 2203 4298 6501 SO:0001627 intron_variant U18918 CCDS34277.1, CCDS75358.1 5q33.1 2008-02-05 ENSG00000070614 3340 Sulfotransferases, membrane-bound 7680 protein-coding gene gene with protein product 600853 HSST NA 7601448, 9230113 Standard NM_001543 NM_001543 NA Approved NST1 uc003lsk.4 P52848 ENST00000523767.1:c.1251+48G>A chr5.hg19:g.149914631G>A NA Q96E57 hg19 0.02 3.824794 TGGxCTG COVERED NOVEL NDST1-001 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000374313.1 1 16.251174 KEEP 0 0 0 54 1913 GG 1 0.999999 0 + 6 60 213 1 0 13.823147 114 60 4245 199 ENST00000523767.1 0.05 0.999999 TNIP1 10318 __UNKNOWN__ __UNKNOWN__ 5 150425467 150425467 __UNKNOWN__ Silent SNP G G A rs2233299 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:150425467G>A ENST00000524280.1 - 8 890 c.891C>T c.(889-891)ggC>ggT p.G297G TNIP1_ENST00000389378.2_Silent_p.G297G|TNIP1_ENST00000315050.7_Silent_p.G297G|TNIP1_ENST00000521423.1_Intron|TNIP1_ENST00000523200.1_Silent_p.G297G|TNIP1_ENST00000523338.1_Silent_p.G297G|TNIP1_ENST00000522226.1_Silent_p.G297G|TNIP1_ENST00000521591.1_Silent_p.G297G|TNIP1_ENST00000518977.1_Silent_p.G297G|TNIP1_ENST00000520931.1_Silent_p.G244G NM_001258456.1 NP_001245385.1 Q15025 TNIP1_HUMAN TNFAIP3 interacting protein 1 297 Interacts with Nef. NA defense response (GO:0006952)|glycoprotein biosynthetic process (GO:0009101)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|modulation by symbiont of host I-kappaB kinase/NF-kappaB cascade (GO:0085032)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral genome replication (GO:0045071)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|translation (GO:0006412) cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634) mitogen-activated protein kinase binding (GO:0051019) NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3) 23 Medulloblastoma(196;0.0911)|all_hematologic(541;0.207) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TCTCGGCTGCGCCCAAGGCCA 0.592 NA G||| 657 0.13119 0.0673 0.1758 5008 , , NA 21120 0.0625 NA 0.2803 False NA ,,, NA NA NA 2504 0.1033 NA NA NA NA 0 G 485,3921 226.5+/-242.0 32,421,1750 106 92 97 891 -5.7 0.6 5 dbSNP_98 97 2374,6226 396.2+/-345.3 351,1672,2277 no coding-synonymous TNIP1 NM_006058.3 383,2093,4027 AA,AG,GG 27.6047,11.0077,21.9822 297/637 150425467 2859,10147 2203 4300 6503 SO:0001819 synonymous_variant AJ011895 CCDS34280.1, CCDS58982.1, CCDS58983.1, CCDS58984.1, CCDS58985.1, CCDS75359.1 5q32-q33.1 2008-07-18 10318 16903 protein-coding gene gene with protein product virion-associated nuclear-shuttling protein, Nef-associated factor 1 SNP 607714 NA 9923610, 11090181 Standard NM_006058 NM_001252385 NA Approved NAF1, KIAA0113, ABIN-1, VAN uc003ltj.3 Q15025 ENST00000524280.1:c.891C>T chr5.hg19:g.150425467G>A NA A4F1W8|A4F1W9|A4F1X2|A4F1X4|A4F1X5|A4F1X6|A4F1X7|A4F1X9|B7Z699|E7EPY1|E7ET96|O76008|Q05KP3|Q05KP4|Q6N077|Q96EL9|Q99833|Q9H1J3 hg19 CCDS58983.1 0.02 3.960761 TGCxCCC COVERED NOVEL TNIP1-008 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000374916.1 0 14.118541 KEEP 0 0 0 47 1576 GG 1 0.999984 0 - 5 60 175 0 0 11.172423 100 60 3181 199 ENST00000524280.1 0.047619 0.999984 TNIP1 10318 __UNKNOWN__ __UNKNOWN__ 5 150429563 150429563 __UNKNOWN__ Intron SNP A A C rs2233294 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:150429563A>C ENST00000524280.1 - 7 722 TNIP1_ENST00000389378.2_Intron|TNIP1_ENST00000315050.7_Intron|TNIP1_ENST00000523200.1_Intron|TNIP1_ENST00000523338.1_Intron|TNIP1_ENST00000522226.1_Intron|TNIP1_ENST00000521591.1_Intron|TNIP1_ENST00000518977.1_Intron|TNIP1_ENST00000520931.1_Intron NM_001258456.1 NP_001245385.1 Q15025 TNIP1_HUMAN TNFAIP3 interacting protein 1 NA NA defense response (GO:0006952)|glycoprotein biosynthetic process (GO:0009101)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|modulation by symbiont of host I-kappaB kinase/NF-kappaB cascade (GO:0085032)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral genome replication (GO:0045071)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|translation (GO:0006412) cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634) mitogen-activated protein kinase binding (GO:0051019) NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3) 23 Medulloblastoma(196;0.0911)|all_hematologic(541;0.207) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TAAGAAACCTACAGGGCTCCT 0.488 NA A||| 515 0.102835 0.0386 0.1311 5008 , , NA 20939 0.0645 NA 0.2137 False NA ,,, NA NA NA 2504 0.0951 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ011895 CCDS34280.1, CCDS58982.1, CCDS58983.1, CCDS58984.1, CCDS58985.1, CCDS75359.1 5q32-q33.1 2008-07-18 10318 16903 protein-coding gene gene with protein product virion-associated nuclear-shuttling protein, Nef-associated factor 1 SNP 607714 NA 9923610, 11090181 Standard NM_006058 NM_001252385 NA Approved NAF1, KIAA0113, ABIN-1, VAN uc003ltj.3 Q15025 ENST00000524280.1:c.723-55T>G chr5.hg19:g.150429563A>C NA A4F1W8|A4F1W9|A4F1X2|A4F1X4|A4F1X5|A4F1X6|A4F1X7|A4F1X9|B7Z699|E7EPY1|E7ET96|O76008|Q05KP3|Q05KP4|Q6N077|Q96EL9|Q99833|Q9H1J3 hg19 CCDS58983.1 0.02 5.882687 CCTxCAG COVERED NOVEL TNIP1-008 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000374916.1 0 14.13923 KEEP 0 0 0 47 1382 AA 1 1 0 - 6 60 211 0 0 12.713093 163 60 5757 268 ENST00000524280.1 0.035503 1 SLC36A2 153201 __UNKNOWN__ __UNKNOWN__ 5 150695401 150695401 __UNKNOWN__ 3'UTR SNP T T C rs59043414 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:150695401T>C ENST00000335244.4 - 0 2558 SLC36A2_ENST00000450886.1_3'UTR NM_181776.2 NP_861441.2 Q495M3 S36A2_HUMAN solute carrier family 36 (proton/amino acid symporter), member 2 NA NA amino acid transport (GO:0006865)|ion transport (GO:0006811)|proline transmembrane transport (GO:0035524)|transmembrane transport (GO:0055085) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) glycine transmembrane transporter activity (GO:0015187)|hydrogen:amino acid symporter activity (GO:0005280)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 Medulloblastoma(196;0.109)|all_hematologic(541;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Cycloserine(DB00260) TCTATTCAAATAATATTCATG 0.358 NA OREG0016950 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY162214 CCDS4315.1 5q33.1 2013-05-22 ENSG00000186335 ENSG00000186335 153201 Solute carriers 18762 protein-coding gene gene with protein product 608331 NA 11959859 Standard NM_181776 NA Approved PAT2, tramdorin, TRAMD1 uc003lty.3 Q495M3 OTTHUMG00000130129 ENST00000335244.4:c.*977A>G chr5.hg19:g.150695401T>C 1734 Q495M4|Q495M6|Q6ZWK5|Q7Z6B5 hg19 CCDS4315.1 0.02 8.818621 AAAxAAT COVERED NOVEL SLC36A2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252437.1 1 10.528796 KEEP 0 0 0 35 1035 TT 0.999999 0.999999 0 - 8 60 300 0 0 19.080392 201 60 7188 282 ENST00000335244.4 0.038278 1 SPARC 6678 __UNKNOWN__ __UNKNOWN__ 5 151042179 151042179 __UNKNOWN__ 3'UTR SNP A A C rs1059279 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:151042179A>C ENST00000231061.4 - 0 2178 NM_003118.3 NP_003109.1 P09486 SPRC_HUMAN secreted protein, acidic, cysteine-rich (osteonectin) NA NA blood coagulation (GO:0007596)|bone development (GO:0060348)|cellular response to growth factor stimulus (GO:0071363)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|inner ear development (GO:0048839)|lung development (GO:0030324)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|ossification (GO:0001503)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|regulation of cell morphogenesis (GO:0022604)|response to cadmium ion (GO:0046686)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to gravity (GO:0009629)|response to L-ascorbic acid (GO:0033591)|response to lead ion (GO:0010288)|response to lipopolysaccharide (GO:0032496)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165) basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nuclear matrix (GO:0016363)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|platelet alpha granule membrane (GO:0031092) calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840) central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1) 15 Medulloblastoma(196;0.109)|all_hematologic(541;0.122) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) OV - Ovarian serous cystadenocarcinoma(192;0.00118) AATAGAAGAAAAAAGGGGAGG 0.398 NA A||| 965 0.192692 0.0378 0.2939 5008 , , NA 19127 0.38 NA 0.1074 False NA ,,, NA NA NA 2504 0.2249 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS4318.1 5q31-q33 2012-10-02 ENSG00000113140 ENSG00000113140 6678 11219 protein-coding gene gene with protein product cysteine-rich protein, osteonectin 182120 ON NA 2838412, 3410046 Standard NM_003118 NM_003118 NA Approved uc003lui.4 P09486 OTTHUMG00000130122 ENST00000231061.4:c.*953T>G chr5.hg19:g.151042179A>C NA D3DQH9|Q6IBK4 hg19 CCDS4318.1 0.02 6.868369 GAAxAAA COVERED NOVEL SPARC-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252430.1 2 13.309715 KEEP 0 2 74 70 2178 AA 1 1 0 - 10 60 364 0 0 24.960012 149 60 5317 273 ENST00000231061.4 0.062893 1 SPARC 6678 __UNKNOWN__ __UNKNOWN__ 5 151043103 151043103 __UNKNOWN__ 3'UTR SNP G G C rs1053411 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:151043103G>C ENST00000231061.4 - 0 1254 NM_003118.3 NP_003109.1 P09486 SPRC_HUMAN secreted protein, acidic, cysteine-rich (osteonectin) NA NA blood coagulation (GO:0007596)|bone development (GO:0060348)|cellular response to growth factor stimulus (GO:0071363)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|inner ear development (GO:0048839)|lung development (GO:0030324)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|ossification (GO:0001503)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|regulation of cell morphogenesis (GO:0022604)|response to cadmium ion (GO:0046686)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to gravity (GO:0009629)|response to L-ascorbic acid (GO:0033591)|response to lead ion (GO:0010288)|response to lipopolysaccharide (GO:0032496)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165) basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nuclear matrix (GO:0016363)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|platelet alpha granule membrane (GO:0031092) calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840) central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1) 15 Medulloblastoma(196;0.109)|all_hematologic(541;0.122) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) OV - Ovarian serous cystadenocarcinoma(192;0.00118) GGGTTAAAGAGAGAATCCGGT 0.418 NA G||| 1142 0.228035 0.1528 0.3184 5008 , , NA 23447 0.38 NA 0.1083 False NA ,,, NA NA NA 2504 0.2321 NA NA NA NA 0 G 652,3754 276.9+/-273.4 49,554,1600 141 139 140 -0.1 0.9 5 dbSNP_86 140 1219,7381 246.7+/-275.0 77,1065,3158 no utr-3 SPARC NM_003118.2 126,1619,4758 CC,CG,GG 14.1744,14.798,14.3857 151043103 1871,11135 2203 4300 6503 SO:0001624 3_prime_UTR_variant CCDS4318.1 5q31-q33 2012-10-02 ENSG00000113140 ENSG00000113140 6678 11219 protein-coding gene gene with protein product cysteine-rich protein, osteonectin 182120 ON NA 2838412, 3410046 Standard NM_003118 NM_003118 NA Approved uc003lui.4 P09486 OTTHUMG00000130122 ENST00000231061.4:c.*29C>G chr5.hg19:g.151043103G>C NA D3DQH9|Q6IBK4 hg19 CCDS4318.1 0.02 27.909268 AGAxAGA COVERED NOVEL SPARC-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252430.1 5 49.620238 KEEP 0 5 175 226 8029 GG 1 1 0 - 20 60 768 0 0 48.142993 589 60 22620 1064 ENST00000231061.4 0.032841 1 SPARC 6678 __UNKNOWN__ __UNKNOWN__ 5 151043213 151043213 __UNKNOWN__ Intron SNP G G A rs11950384 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:151043213G>A ENST00000231061.4 - 10 1197 NM_003118.3 NP_003109.1 P09486 SPRC_HUMAN secreted protein, acidic, cysteine-rich (osteonectin) NA NA blood coagulation (GO:0007596)|bone development (GO:0060348)|cellular response to growth factor stimulus (GO:0071363)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|inner ear development (GO:0048839)|lung development (GO:0030324)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|ossification (GO:0001503)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|regulation of cell morphogenesis (GO:0022604)|response to cadmium ion (GO:0046686)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to gravity (GO:0009629)|response to L-ascorbic acid (GO:0033591)|response to lead ion (GO:0010288)|response to lipopolysaccharide (GO:0032496)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165) basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nuclear matrix (GO:0016363)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|platelet alpha granule membrane (GO:0031092) calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840) central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1) 15 Medulloblastoma(196;0.109)|all_hematologic(541;0.122) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) OV - Ovarian serous cystadenocarcinoma(192;0.00118) CGATGATAACGCACTTCCCAA 0.517 NA G||| 1144 0.228435 0.1528 0.3184 5008 , , NA 22717 0.38 NA 0.1083 False NA ,,, NA NA NA 2504 0.2342 NA NA NA NA 0 G 200,1184 11,178,503 100 88 92 -6.2 0 5 dbSNP_120 92 456,2726 25,406,1160 no intron SPARC NM_003118.2 36,584,1663 AA,AG,GG 14.3306,14.4509,14.3671 151043213 656,3910 692 1591 2283 SO:0001627 intron_variant CCDS4318.1 5q31-q33 2012-10-02 ENSG00000113140 ENSG00000113140 6678 11219 protein-coding gene gene with protein product cysteine-rich protein, osteonectin 182120 ON NA 2838412, 3410046 Standard NM_003118 NM_003118 NA Approved uc003lui.4 P09486 OTTHUMG00000130122 ENST00000231061.4:c.884-53C>T chr5.hg19:g.151043213G>A NA D3DQH9|Q6IBK4 hg19 CCDS4318.1 0.02 9.730142 AACxCAC COVERED NOVEL SPARC-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252430.1 1 23.251504 KEEP 0 3 78 105 3680 GG 1 1 0 - 9 60 311 1 0 18.365914 255 60 9118 452 ENST00000231061.4 0.034091 1 G3BP1 10146 __UNKNOWN__ __UNKNOWN__ 5 151171509 151171509 __UNKNOWN__ Intron SNP C C T rs2915869 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:151171509C>T ENST00000394123.3 + 4 496 G3BP1_ENST00000356245.3_Intron|G3BP1_ENST00000543466.1_Intron Q13283 G3BP1_HUMAN GTPase activating protein (SH3 domain) binding protein 1 NA NA ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Ras protein signal transduction (GO:0007265)|transport (GO:0006810) cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822) breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2) 29 all_hematologic(541;0.0338)|Medulloblastoma(196;0.091) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) gccaccatgcccagccTTATT 0.428 NA C||| 1115 0.222644 0.0461 0.2493 5008 , , NA 20562 0.3155 NA 0.2634 False NA ,,, NA NA NA 2504 0.3047 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC006997 CCDS4319.1 5q33.1 2013-02-12 2006-11-01 ENSG00000145907 ENSG00000145907 10146 RNA binding motif (RRM) containing 30292 protein-coding gene gene with protein product Ras-GTPase-activating protein SH3-domain-binding protein 608431 NA 8649363, 9889278 Standard NM_005754 NM_005754 NA Approved HDH-VIII, G3BP uc003lum.3 Q13283 OTTHUMG00000130123 ENST00000394123.3:c.351+886C>T chr5.hg19:g.151171509C>T NA Q5HYE9 hg19 CCDS4319.1 0.02 -0.438652 TGCxCAG COVERED NOVEL G3BP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252431.1 0 3.912488 KEEP 0 0 0 13 444 CC 0.994391 0.954475 0 + 3 60 110 0 0 7.504151 47 60 1682 67 ENST00000394123.3 0.06 0.959859 G3BP1 10146 __UNKNOWN__ __UNKNOWN__ 5 151184701 151184701 __UNKNOWN__ 3'UTR SNP C C T rs1062177 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:151184701C>T ENST00000394123.3 + 0 2595 G3BP1_ENST00000356245.3_3'UTR Q13283 G3BP1_HUMAN GTPase activating protein (SH3 domain) binding protein 1 NA NA ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Ras protein signal transduction (GO:0007265)|transport (GO:0006810) cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822) breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2) 29 all_hematologic(541;0.0338)|Medulloblastoma(196;0.091) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) ATTCTGGTATCTAATCAGATT 0.333 NA C||| 1071 0.213858 0.0151 0.245 5008 , , NA 17327 0.3135 NA 0.2654 False NA ,,, NA NA NA 2504 0.3047 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC006997 CCDS4319.1 5q33.1 2013-02-12 2006-11-01 ENSG00000145907 ENSG00000145907 10146 RNA binding motif (RRM) containing 30292 protein-coding gene gene with protein product Ras-GTPase-activating protein SH3-domain-binding protein 608431 NA 8649363, 9889278 Standard NM_005754 NM_005754 NA Approved HDH-VIII, G3BP uc003lum.3 Q13283 OTTHUMG00000130123 ENST00000394123.3:c.*1049C>T chr5.hg19:g.151184701C>T NA Q5HYE9 hg19 CCDS4319.1 0.02 5.64238 TATxTAA COVERED NOVEL G3BP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252431.1 0 12.039347 KEEP 0 0 0 40 1424 CC 1 1 0 + 8 60 287 0 0 18.21221 177 60 6763 292 ENST00000394123.3 0.043243 1 G3BP1 10146 __UNKNOWN__ __UNKNOWN__ 5 151188158 151188158 __UNKNOWN__ 3'UTR SNP T T C rs973529 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:151188158T>C ENST00000394123.3 + 0 6052 Q13283 G3BP1_HUMAN GTPase activating protein (SH3 domain) binding protein 1 NA NA ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Ras protein signal transduction (GO:0007265)|transport (GO:0006810) cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822) breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2) 29 all_hematologic(541;0.0338)|Medulloblastoma(196;0.091) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) CAACTATTCCTTTAATAAATC 0.358 NA T||| 1073 0.214257 0.0151 0.245 5008 , , NA 16775 0.3155 NA 0.2634 False NA ,,, NA NA NA 2504 0.3067 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC006997 CCDS4319.1 5q33.1 2013-02-12 2006-11-01 ENSG00000145907 ENSG00000145907 10146 RNA binding motif (RRM) containing 30292 protein-coding gene gene with protein product Ras-GTPase-activating protein SH3-domain-binding protein 608431 NA 8649363, 9889278 Standard NM_005754 NM_005754 NA Approved HDH-VIII, G3BP uc003lum.3 Q13283 OTTHUMG00000130123 ENST00000394123.3:c.*4506T>C chr5.hg19:g.151188158T>C NA Q5HYE9 hg19 CCDS4319.1 0.02 6.701439 TCCxTTA COVERED NOVEL G3BP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252431.1 1 8.123983 KEEP 0 0 0 27 862 TT 0.999988 0.999988 0 + 8 60 292 0 0 18.849188 170 60 6144 224 ENST00000394123.3 0.044944 1 G3BP1 10146 __UNKNOWN__ __UNKNOWN__ 5 151191231 151191231 __UNKNOWN__ 3'UTR SNP G G A rs1433041 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:151191231G>A ENST00000394123.3 + 0 9125 Q13283 G3BP1_HUMAN GTPase activating protein (SH3 domain) binding protein 1 NA NA ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Ras protein signal transduction (GO:0007265)|transport (GO:0006810) cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822) breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2) 29 all_hematologic(541;0.0338)|Medulloblastoma(196;0.091) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) CATAACTTTTGTGACTTCATG 0.318 NA A||| 2173 0.433906 0.4924 0.3948 5008 , , NA 16625 0.3552 NA 0.4215 False NA ,,, NA NA NA 2504 0.4765 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC006997 CCDS4319.1 5q33.1 2013-02-12 2006-11-01 ENSG00000145907 ENSG00000145907 10146 RNA binding motif (RRM) containing 30292 protein-coding gene gene with protein product Ras-GTPase-activating protein SH3-domain-binding protein 608431 NA 8649363, 9889278 Standard NM_005754 NM_005754 NA Approved HDH-VIII, G3BP uc003lum.3 Q13283 OTTHUMG00000130123 ENST00000394123.3:c.*7579G>A chr5.hg19:g.151191231G>A NA Q5HYE9 hg19 CCDS4319.1 0.02 8.682806 TTTxTGA COVERED NOVEL G3BP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252431.1 0 11.673253 KEEP 0 1 32 50 1800 GG 1 1 0 + 12 70 435 0 0 29.209282 200 60 7516 314 ENST00000394123.3 0.056604 1 SGCD 6444 __UNKNOWN__ __UNKNOWN__ 5 156016201 156016201 __UNKNOWN__ Intron SNP T T A rs74571343 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:156016201T>A ENST00000337851.4 + 5 813 SGCD_ENST00000517913.1_Intron|SGCD_ENST00000447401.1_Intron|SGCD_ENST00000435422.3_Intron NM_000337.5 NP_000328.2 Q92629 SGCD_HUMAN sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) NA NA muscle organ development (GO:0007517) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383) breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1) 24 Renal(175;0.00488) Medulloblastoma(196;0.0378)|all_neural(177;0.106) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TGTTTAGAAATCTATCATTTT 0.363 NA T||| 255 0.0509185 0.0431 0.0072 5008 , , NA 18531 0.1815 NA 0.002 False NA ,,, NA NA NA 2504 0.0082 NA NA NA NA 0 T ,, 105,3493 2,101,1696 41 36 37 ,, 0.8 0.1 5 dbSNP_132 37 18,7986 0,18,3984 no intron,intron,intron SGCD NM_000337.5,NM_001128209.1,NM_172244.2 ,, 2,119,5680 AA,AT,TT 0.2249,2.9183,1.0602 ,, ,, 156016201 123,11479 1799 4002 5801 SO:0001627 intron_variant BX537948 CCDS47325.1, CCDS47326.1, CCDS47327.1 5q33-q34 2014-09-17 2002-08-29 6444 10807 protein-coding gene gene with protein product 601411 sarcoglycan, delta (35kD dystrophin-associated glycoprotein) NA 8776597, 8841194, 10974018 Standard NM_000337 NA Approved DAGD, LGMD2F, CMD1L uc003lwd.4 Q92629 ENST00000337851.4:c.295-40T>A chr5.hg19:g.156016201T>A NA A8K9S9|Q53XA5|Q99644 hg19 CCDS47325.1 0.02 3.886407 AAAxCTA COVERED NOVEL SGCD-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000373470.2 1 8.72469 KEEP 0 0 0 29 871 TT 0.999997 0.999997 0 + 6 60 216 0 0 13.580921 141 60 5120 184 ENST00000337851.4 0.040816 1 ADAM19 8728 __UNKNOWN__ __UNKNOWN__ 5 156904633 156904633 __UNKNOWN__ 3'UTR SNP C C T rs10404 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:156904633C>T ENST00000257527.4 - 0 6159 ADAM19_ENST00000394020.1_3'UTR|ADAM19_ENST00000430702.2_Intron NM_033274.3 NP_150377.1 Q9H013 ADA19_HUMAN ADAM metallopeptidase domain 19 NA NA heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509) integral component of membrane (GO:0016021) metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270) breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Renal(175;0.00488) Medulloblastoma(196;0.0359)|all_neural(177;0.14) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TTCCAGTTGGCGTTCCCATGG 0.517 NA OREG0016980 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) C||| 1814 0.36222 0.2186 0.245 5008 , , NA 18202 0.7163 NA 0.2694 False NA ,,, NA NA NA 2504 0.3701 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF311317 CCDS4338.1 5q33.3 2010-06-24 2010-06-24 ENSG00000135074 ENSG00000135074 8728 ADAM metallopeptidase domain containing 197 protein-coding gene gene with protein product meltrin beta 603640 a disintegrin and metalloproteinase domain 19 (meltrin beta) NA 9806848 Standard NM_033274 NM_033274 NA Approved MLTNB uc003lwz.4 Q9H013 OTTHUMG00000130242 ENST00000257527.4:c.*3324G>A chr5.hg19:g.156904633C>T 1782 Q9BZL5|Q9UHP2 hg19 CCDS4338.1 0.02 8.062394 TGGxGTT COVERED NOVEL ADAM19-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252566.1 2 14.124692 KEEP 0 0 0 47 1637 CC 1 1 0 - 12 60 412 0 0 26.038991 238 60 8545 356 ENST00000257527.4 0.048 1 ADAM19 8728 __UNKNOWN__ __UNKNOWN__ 5 156905517 156905517 __UNKNOWN__ 3'UTR SNP G G A rs11466822 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:156905517G>A ENST00000257527.4 - 0 5275 ADAM19_ENST00000394020.1_3'UTR|ADAM19_ENST00000430702.2_Intron NM_033274.3 NP_150377.1 Q9H013 ADA19_HUMAN ADAM metallopeptidase domain 19 NA NA heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509) integral component of membrane (GO:0016021) metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270) breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Renal(175;0.00488) Medulloblastoma(196;0.0359)|all_neural(177;0.14) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) ttctgcaatcgtgctttggaa 0.468 NA A||| 2415 0.482228 0.4259 0.3617 5008 , , NA 19200 0.7202 NA 0.4632 False NA ,,, NA NA NA 2504 0.4182 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF311317 CCDS4338.1 5q33.3 2010-06-24 2010-06-24 ENSG00000135074 ENSG00000135074 8728 ADAM metallopeptidase domain containing 197 protein-coding gene gene with protein product meltrin beta 603640 a disintegrin and metalloproteinase domain 19 (meltrin beta) NA 9806848 Standard NM_033274 NM_033274 NA Approved MLTNB uc003lwz.4 Q9H013 OTTHUMG00000130242 ENST00000257527.4:c.*2440C>T chr5.hg19:g.156905517G>A NA Q9BZL5|Q9UHP2 hg19 CCDS4338.1 0.02 4.244775 ATCxTGC COVERED NOVEL ADAM19-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252566.1 0 5.718107 KEEP 0 0 0 19 660 GG 0.99986 0.999859 0 - 11 60 397 0 0 28.62962 118 60 4147 170 ENST00000257527.4 0.085271 1 ADAM19 8728 __UNKNOWN__ __UNKNOWN__ 5 156918987 156918987 __UNKNOWN__ Intron SNP G G A rs11466790 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:156918987G>A ENST00000257527.4 - 17 1987 ADAM19_ENST00000394020.1_Intron|ADAM19_ENST00000517905.1_Intron|ADAM19_ENST00000430702.2_Intron NM_033274.3 NP_150377.1 Q9H013 ADA19_HUMAN ADAM metallopeptidase domain 19 NA NA heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509) integral component of membrane (GO:0016021) metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270) breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Renal(175;0.00488) Medulloblastoma(196;0.0359)|all_neural(177;0.14) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TAGGAGGCAAGATTTTGCACT 0.562 NA G||| 1765 0.352436 0.1861 0.2493 5008 , , NA 19513 0.7212 NA 0.2644 False NA ,,, NA NA NA 2504 0.3609 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF311317 CCDS4338.1 5q33.3 2010-06-24 2010-06-24 ENSG00000135074 ENSG00000135074 8728 ADAM metallopeptidase domain containing 197 protein-coding gene gene with protein product meltrin beta 603640 a disintegrin and metalloproteinase domain 19 (meltrin beta) NA 9806848 Standard NM_033274 NM_033274 NA Approved MLTNB uc003lwz.4 Q9H013 OTTHUMG00000130242 ENST00000257527.4:c.1909-67C>T chr5.hg19:g.156918987G>A NA Q9BZL5|Q9UHP2 hg19 CCDS4338.1 0.02 1.854656 CAAxATT COVERED NOVEL ADAM19-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252566.1 0 3.009127 KEEP 0 0 0 10 343 GG 0.992708 0.992627 0 - 8 60 282 0 0 20.10152 87 60 3208 115 ENST00000257527.4 0.084211 0.999919 THG1L 54974 __UNKNOWN__ __UNKNOWN__ 5 157167317 157167317 __UNKNOWN__ 3'UTR SNP C C G rs6892723 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:157167317C>G ENST00000231198.7 + 0 1968 NM_017872.3 NP_060342.2 Q9NWX6 THG1_HUMAN tRNA-histidine guanylyltransferase 1-like (S. cerevisiae) NA NA protein homotetramerization (GO:0051289)|tRNA modification (GO:0006400)|tRNA processing (GO:0008033) cytoplasm (GO:0005737)|mitochondrion (GO:0005739) ATP binding (GO:0005524)|GTP binding (GO:0005525)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|tRNA binding (GO:0000049)|tRNA guanylyltransferase activity (GO:0008193) NS(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1) 13 Renal(175;0.00488) Medulloblastoma(196;0.0523) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TCTTGAAAAACATTCTCACAT 0.383 NA G||| 1969 0.393171 0.3707 0.3386 5008 , , NA 21686 0.5714 NA 0.3549 False NA ,,, NA NA NA 2504 0.318 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK223119 CCDS4341.1 5q33.3 2008-02-05 ENSG00000113272 ENSG00000113272 54974 26053 protein-coding gene gene with protein product interphase cytoplasmic foci protein 45 NA 11230166 Standard NM_017872 XM_005265939 NA Approved ICF45, FLJ11601, FLJ20546 uc003lxd.3 Q9NWX6 OTTHUMG00000130254 ENST00000231198.7:c.*827C>G chr5.hg19:g.157167317C>G NA D3DQJ5|Q53G12|Q7L5R3|Q9H0S2 hg19 CCDS4341.1 0.02 7.55295 AAAxATT COVERED NOVEL THG1L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252579.2 1 6.621728 KEEP 0 0 0 22 790 CC 0.999879 0.999879 0 + 10 60 390 0 0 27.204944 162 60 6183 227 ENST00000231198.7 0.05814 1 THG1L 54974 __UNKNOWN__ __UNKNOWN__ 5 157167472 157167472 __UNKNOWN__ 3'UTR SNP A A G rs6877391 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:157167472A>G ENST00000231198.7 + 0 2123 NM_017872.3 NP_060342.2 Q9NWX6 THG1_HUMAN tRNA-histidine guanylyltransferase 1-like (S. cerevisiae) NA NA protein homotetramerization (GO:0051289)|tRNA modification (GO:0006400)|tRNA processing (GO:0008033) cytoplasm (GO:0005737)|mitochondrion (GO:0005739) ATP binding (GO:0005524)|GTP binding (GO:0005525)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|tRNA binding (GO:0000049)|tRNA guanylyltransferase activity (GO:0008193) NS(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1) 13 Renal(175;0.00488) Medulloblastoma(196;0.0523) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TGGGTGAGGAACAGCACAGAG 0.502 NA G||| 1969 0.393171 0.3707 0.3386 5008 , , NA 18610 0.5714 NA 0.3549 False NA ,,, NA NA NA 2504 0.318 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK223119 CCDS4341.1 5q33.3 2008-02-05 ENSG00000113272 ENSG00000113272 54974 26053 protein-coding gene gene with protein product interphase cytoplasmic foci protein 45 NA 11230166 Standard NM_017872 XM_005265939 NA Approved ICF45, FLJ11601, FLJ20546 uc003lxd.3 Q9NWX6 OTTHUMG00000130254 ENST00000231198.7:c.*982A>G chr5.hg19:g.157167472A>G NA D3DQJ5|Q53G12|Q7L5R3|Q9H0S2 hg19 CCDS4341.1 0.02 7.206327 GGAxCAG COVERED NOVEL THG1L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252579.2 2 5.551901 KEEP 0 1 36 31 984 AA 0.999997 0.999997 0 + 7 60 267 0 0 17.444026 159 60 5709 238 ENST00000231198.7 0.042169 1 LSM11 134353 __UNKNOWN__ __UNKNOWN__ 5 157186060 157186060 __UNKNOWN__ 3'UTR SNP T T C rs1039322 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:157186060T>C ENST00000286307.5 + 0 4927 NM_173491.2 NP_775762.1 P83369 LSM11_HUMAN LSM11, U7 small nuclear RNA associated NA NA gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366) histone pre-mRNA 3'end processing complex (GO:0071204)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U7 snRNP (GO:0005683) U7 snRNA binding (GO:0071209) breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1) 7 Renal(175;0.00488) Medulloblastoma(196;0.0523) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GATGGTTAGCTAGAGTTAGCA 0.483 NA C||| 1978 0.394968 0.3707 0.3343 5008 , , NA 20358 0.5893 NA 0.3489 False NA ,,, NA NA NA 2504 0.318 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK095592 CCDS4342.1 5q33.3 2008-02-05 2004-04-28 ENSG00000155858 ENSG00000155858 134353 30860 protein-coding gene gene with protein product LSM11 homolog, U7 small nuclear RNA associated (S. cerevisiae) NA 12975319 Standard NM_173491 NM_173491 NA Approved FLJ38273 uc003lxe.1 P83369 OTTHUMG00000130255 ENST00000286307.5:c.*3788T>C chr5.hg19:g.157186060T>C NA A0AVQ1|Q7Z7P0|Q8N975 hg19 CCDS4342.1 0.02 4.870154 AGCxAGA COVERED NOVEL LSM11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252580.2 0 6.61882 KEEP 0 0 0 22 661 TT 0.999879 0.999878 0 + 8 60 310 0 0 21.88249 118 60 4237 168 ENST00000286307.5 0.063492 1 LSM11 134353 __UNKNOWN__ __UNKNOWN__ 5 157187203 157187203 __UNKNOWN__ 3'UTR SNP A A G rs7725733 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:157187203A>G ENST00000286307.5 + 0 6070 NM_173491.2 NP_775762.1 P83369 LSM11_HUMAN LSM11, U7 small nuclear RNA associated NA NA gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366) histone pre-mRNA 3'end processing complex (GO:0071204)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U7 snRNP (GO:0005683) U7 snRNA binding (GO:0071209) breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1) 7 Renal(175;0.00488) Medulloblastoma(196;0.0523) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CTTTGGAACAAATGTGTGATG 0.343 NA A||| 1959 0.391174 0.3563 0.3343 5008 , , NA 18257 0.5893 NA 0.3489 False NA ,,, NA NA NA 2504 0.318 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK095592 CCDS4342.1 5q33.3 2008-02-05 2004-04-28 ENSG00000155858 ENSG00000155858 134353 30860 protein-coding gene gene with protein product LSM11 homolog, U7 small nuclear RNA associated (S. cerevisiae) NA 12975319 Standard NM_173491 NM_173491 NA Approved FLJ38273 uc003lxe.1 P83369 OTTHUMG00000130255 ENST00000286307.5:c.*4931A>G chr5.hg19:g.157187203A>G NA A0AVQ1|Q7Z7P0|Q8N975 hg19 CCDS4342.1 0.02 7.815383 ACAxATG COVERED NOVEL LSM11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252580.2 3 7.041748 KEEP 0 1 33 35 1059 AA 0.999999 0.999999 0 + 8 60 317 0 0 21.619385 157 60 5506 243 ENST00000286307.5 0.048485 1 EBF1 1879 __UNKNOWN__ __UNKNOWN__ 5 158526512 158526512 __UNKNOWN__ 5'UTR SNP T T A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:158526512T>A ENST00000313708.6 - 0 257 EBF1_ENST00000518836.1_Intron|EBF1_ENST00000380654.4_5'UTR|EBF1_ENST00000517373.1_5'UTR NM_024007.3 NP_076870.1 Q9UH73 COE1_HUMAN early B-cell factor 1 NA NA multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) HMGA2/EBF1(2) breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 Renal(175;0.00196) Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TTGTGGAAAATCTCCTCCCCC 0.383 NA T HMGA2 lipoma NA NA NA NA NA NA NA NA NA Dom yes 5 5q34 1879 early B-cell factor 1 M 0 72 88 83 NA NA 5 NA 158526512 2203 4300 6503 SO:0001623 5_prime_UTR_variant AF208502 CCDS4343.1 5q34 2008-02-05 2006-09-26 2006-09-26 ENSG00000164330 ENSG00000164330 1879 3126 protein-coding gene gene with protein product 164343 early B-cell factor EBF NA 8012110 Standard NM_024007 NM_024007 NA Approved OLF1 uc010jip.3 Q9UH73 OTTHUMG00000130304 ENST00000313708.6:c.-26A>T chr5.hg19:g.158526512T>A NA Q8IW11 hg19 CCDS4343.1 0.02 3.415546 AAAxCTC COVERED NOVEL EBF1-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000252649.1 10 17.8851 KEEP 0 16 282 164 4543 TT 1 1 0 - 9 60 217 0 0 11.150096 150 60 4684 446 ENST00000313708.6 0.056604 1 PWWP2A 114825 __UNKNOWN__ __UNKNOWN__ 5 159505208 159505208 __UNKNOWN__ Intron SNP C C A rs4360078 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:159505208C>A ENST00000523662.1 - 3 1583 PWWP2A_ENST00000456329.3_Intron NM_001267035.1 NP_001253964.1 Q96N64 PWP2A_HUMAN PWWP domain containing 2A NA NA kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 5 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AAGAAAATGTCGTTAAGCACA 0.373 NA A||| 3471 0.693091 0.7368 0.6383 5008 , , NA 19135 0.7024 NA 0.6581 False NA ,,, NA NA NA 2504 0.6994 NA NA NA NA 0 A 2721,969 1013,695,137 56 53 54 1.9 0.1 5 dbSNP_111 54 5309,2789 1767,1775,507 no intron PWWP2A NM_052927.2 2780,2470,644 AA,AC,CC 34.4406,26.2602,31.8799 159505208 8030,3758 1845 4049 5894 SO:0001627 intron_variant CCDS47331.1, CCDS47332.1, CCDS58990.1 5q33.3 2011-03-23 ENSG00000170234 ENSG00000170234 114825 29406 protein-coding gene gene with protein product NA Standard NM_052927 NA Approved KIAA1935 uc011ded.2 Q96N64 OTTHUMG00000163546 ENST00000523662.1:c.1550-33G>T chr5.hg19:g.159505208C>A NA G5EA07|Q2HJJ2|Q8IYR3|Q96PV3 hg19 CCDS58990.1 0.02 18.038827 TGTxGTT COVERED NOVEL PWWP2A-004 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000374091.1 2 17.452214 KEEP 0 0 0 58 1885 CC 1 1 0 - 16 60 608 0 0 38.773841 413 60 13711 539 ENST00000523662.1 0.037296 1 C1QTNF2 114898 __UNKNOWN__ __UNKNOWN__ 5 159775741 159775741 __UNKNOWN__ 3'UTR SNP G G A rs6556492 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:159775741G>A ENST00000393975.3 - 0 1430 NM_031908.4 NP_114114.2 Q9BXJ5 C1QT2_HUMAN C1q and tumor necrosis factor related protein 2 NA NA activation of MAPK activity (GO:0000187)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260) collagen trimer (GO:0005581)|extracellular space (GO:0005615) breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3) 13 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) acctaaaAACGCAAACTTAAA 0.353 NA G||| 3372 0.673323 0.6589 0.6369 5008 , , NA 18616 0.6845 NA 0.7485 False NA ,,, NA NA NA 2504 0.6299 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF329836 CCDS4351.2 5q33.3 2008-05-15 ENSG00000145861 ENSG00000145861 114898 14325 protein-coding gene gene with protein product NA Standard XM_005265815 NA Approved CTRP2 uc003lyd.3 Q9BXJ5 OTTHUMG00000130323 ENST00000393975.3:c.*434C>T chr5.hg19:g.159775741G>A NA hg19 CCDS4351.2 0.02 13.359061 AACxCAA COVERED NOVEL C1QTNF2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252672.2 3 7.959308 KEEP 0 1 27 36 1250 GG 1 1 0 - 13 60 478 0 0 30.479655 303 60 10417 429 ENST00000393975.3 0.041139 1 GABRB2 2561 __UNKNOWN__ __UNKNOWN__ 5 160757907 160757907 __UNKNOWN__ Missense_Mutation SNP G G A rs41298406 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:160757907G>A ENST00000393959.1 - 8 1059 c.1060C>T c.(1060-1062)Cgc>Tgc p.R354C GABRB2_ENST00000274547.2_Missense_Mutation_p.R354C|GABRB2_ENST00000520240.1_Missense_Mutation_p.R354C|GABRB2_ENST00000517547.1_Missense_Mutation_p.R194C|GABRB2_ENST00000353437.6_Missense_Mutation_p.R354C|GABRB2_ENST00000517901.1_Missense_Mutation_p.R291C P47870 GBRB2_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 2 354 NA cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810) cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211) chloride channel activity (GO:0005254)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Renal(175;0.00259) Medulloblastoma(196;0.021)|all_neural(177;0.0463) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897) ACATCCAGGCGCATCTTCTCA 0.483 NA G||| 6 0.00119808 0.0 0.0 5008 , , NA 19004 0.006 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 115 116 115 NA NA 5 NA 160757907 2203 4300 6503 SO:0001583 missense CCDS4354.1, CCDS4355.1 5q34 2012-06-22 ENSG00000145864 ENSG00000145864 2561 GABA receptors, Ligand-gated ion channels / GABA(A) receptors 4082 protein-coding gene gene with protein product GABA(A) receptor, beta 2 600232 NA 7851879 Standard NM_000813 NA Approved uc003lys.1 P47870 OTTHUMG00000130349 ENST00000393959.1:c.1060C>T chr5.hg19:g.160757907G>A ENSP00000377531:p.Arg354Cys NA A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2 hg19 CCDS4355.1 0.02 6.347048 GGCxCAT COVERED 5 0.0022893772893772895 0 0.0 0 0.0 5 0.008741258741258742 0 0.0 G 21.1 4.092929 0.76756 . . ENSG00000145864 ENST00000393959;ENST00000274547;ENST00000353437;ENST00000520240;ENST00000517901;ENST00000517547 T;T;D;D;D;D 0.85556 -0.53;-0.53;-2.0;-2.0;-2.0;-2.0 5.26 5.26 0.73747 Neurotransmitter-gated ion-channel transmembrane domain (2); 1.742250 0.02563 N 0.096951 D 0.90356 0.6982 M 0.62088 1.915 0.80722 D 1 D;D;D;D 0.76494 0.999;0.995;0.999;0.994 P;P;P;P 0.61658 0.877;0.849;0.892;0.764 T 0.80645 -0.1290 10 0.72032 D 0.01 . 18.8686 0.92303 0.0:0.0:1.0:0.0 rs41298406 194;291;354;354 B7Z279;E7EV50;P47870;P47870-1 .;.;GBRB2_HUMAN;. C 354;354;354;354;291;194 ENSP00000377531:R354C;ENSP00000274547:R354C;ENSP00000274546:R354C;ENSP00000429320:R354C;ENSP00000430532:R291C;ENSP00000429750:R194C ENSP00000274547:R354C R - 1 0 GABRB2 160690485 1.000000 0.71417 1.000000 0.80357 0.992000 0.81027 5.770000 0.68873 2.451000 0.82905 0.563000 0.77884 CGC NOVEL GABRB2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252704.1 1 5.417467 KEEP 0 0 0 18 622 GG 0.999859 0.999859 0 - 9 60 314 0 0 20.358897 164 60 5619 231 ENST00000393959.1 0.052023 1 GABRA6 2559 __UNKNOWN__ __UNKNOWN__ 5 161119125 161119125 __UNKNOWN__ Silent SNP C C G rs13184586 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:161119125C>G ENST00000274545.5 + 8 1438 c.1005C>G c.(1003-1005)gcC>gcG p.A335A GABRA6_ENST00000523217.1_Silent_p.A325A Q16445 GBRA6_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 6 335 NA gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810) cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211) benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890) breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2) 57 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897) CACAGAAGGCCAAAAGGAAGG 0.433 NA TCGA Ovarian(5;0.080) C||| 2009 0.401158 0.3351 0.3732 5008 , , NA 19042 0.3185 NA 0.5736 False NA ,,, NA NA NA 2504 0.4182 NA NA NA NA 0 C 1564,2842 491.3+/-362.1 273,1018,912 161 139 146 1005 -1.1 1 5 dbSNP_121 146 4784,3816 613.0+/-396.0 1320,2144,836 no coding-synonymous GABRA6 NM_000811.2 1593,3162,1748 GG,GC,CC 44.3721,35.497,48.8082 335/454 161119125 6348,6658 2203 4300 6503 SO:0001819 synonymous_variant CCDS4356.1 5q34 2012-06-22 ENSG00000145863 ENSG00000145863 2559 GABA receptors, Ligand-gated ion channels / GABA(A) receptors 4080 protein-coding gene gene with protein product GABA(A) receptor, alpha 6 137143 NA 8020978 Standard NM_000811 NA Approved uc003lyu.2 Q16445 OTTHUMG00000130351 ENST00000274545.5:c.1005C>G chr5.hg19:g.161119125C>G NA A8K096|Q4VAV2 hg19 CCDS4356.1 0.02 14.577235 GGCxAAA COVERED NOVEL GABRA6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252707.2 1 16.252859 KEEP 0 0 0 54 1896 CC 1 1 0 + 13 60 462 0 0 28.156205 345 60 13116 514 ENST00000274545.5 0.036313 1 GABRA1 2554 __UNKNOWN__ __UNKNOWN__ 5 161281245 161281245 __UNKNOWN__ Silent SNP T T C rs1129647 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:161281245T>C ENST00000428797.2 + 4 511 c.156T>C c.(154-156)ggT>ggC p.G52G GABRA1_ENST00000393943.4_Silent_p.G52G|GABRA1_ENST00000420560.1_Silent_p.G52G|GABRA1_ENST00000023897.6_Silent_p.G52G|GABRA1_ENST00000444819.1_Silent_p.G52G|GABRA1_ENST00000437025.2_Silent_p.G52G NM_001127643.1 NP_001121115.1 P14867 GBRA1_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 1 52 NA gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810) cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211) chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890) NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1) 42 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.228) Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198) TCCTAGATGGTTATGACAATC 0.363 NA T||| 1146 0.228834 0.1067 0.2161 5008 , , NA 16450 0.2937 NA 0.2883 False NA ,,, NA NA NA 2504 0.2751 NA NA NA NA 0 T ,,,,,, 573,3833 251.5+/-258.2 51,471,1681 102 105 104 156,156,156,156,156,156,156 0.3 1 5 dbSNP_126 104 2340,6260 390.7+/-343.4 298,1744,2258 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous GABRA1 NM_000806.5,NM_001127643.1,NM_001127644.1,NM_001127645.1,NM_001127646.1,NM_001127647.1,NM_001127648.1 ,,,,,, 349,2215,3939 CC,CT,TT 27.2093,13.005,22.3974 ,,,,,, 52/457,52/457,52/457,52/457,52/457,52/457,52/457 161281245 2913,10093 2203 4300 6503 SO:0001819 synonymous_variant CCDS4357.1 5q34 2012-06-22 ENSG00000022355 ENSG00000022355 2554 GABA receptors, Ligand-gated ion channels / GABA(A) receptors 4075 protein-coding gene gene with protein product GABA(A) receptor, alpha 1 137160 NA 1330891 Standard NM_000806.5 NM_000806 NA Approved EJM5 uc003lyx.4 P14867 OTTHUMG00000163586 ENST00000428797.2:c.156T>C chr5.hg19:g.161281245T>C NA D3DQK6|Q8N629 hg19 CCDS4357.1 0.02 18.196466 TGGxTAT COVERED NOVEL GABRA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252702.2 0 9.028032 KEEP 0 0 0 30 983 TT 0.999997 0.999997 0 + 13 60 480 0 0 29.204163 398 60 14449 563 ENST00000428797.2 0.03163 1 GABRA1 2554 __UNKNOWN__ __UNKNOWN__ 5 161292685 161292685 __UNKNOWN__ Intron SNP C C T rs41304896 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:161292685C>T ENST00000428797.2 + 5 542 GABRA1_ENST00000393943.4_Intron|GABRA1_ENST00000420560.1_Intron|GABRA1_ENST00000023897.6_Intron|GABRA1_ENST00000444819.1_Intron|GABRA1_ENST00000437025.2_Intron NM_001127643.1 NP_001121115.1 P14867 GBRA1_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 1 NA NA gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810) cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211) chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890) NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1) 42 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.228) Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198) CTAATAAGGACGGTTGACAGA 0.438 NA C||| 870 0.173722 0.0272 0.1888 5008 , , NA 15547 0.2371 NA 0.2575 False NA ,,, NA NA NA 2504 0.2096 NA NA NA NA 0 C ,,,,,, 240,4166 139.2+/-174.8 13,214,1976 130 115 121 ,,,,,, 0.8 0.5 5 dbSNP_127 121 2011,6589 351.3+/-328.2 217,1577,2506 no intron,intron,intron,intron,intron,intron,intron GABRA1 NM_000806.5,NM_001127643.1,NM_001127644.1,NM_001127645.1,NM_001127646.1,NM_001127647.1,NM_001127648.1 ,,,,,, 230,1791,4482 TT,TC,CC 23.3837,5.4471,17.3074 ,,,,,, ,,,,,, 161292685 2251,10755 2203 4300 6503 SO:0001627 intron_variant CCDS4357.1 5q34 2012-06-22 ENSG00000022355 ENSG00000022355 2554 GABA receptors, Ligand-gated ion channels / GABA(A) receptors 4075 protein-coding gene gene with protein product GABA(A) receptor, alpha 1 137160 NA 1330891 Standard NM_000806.5 NM_000806 NA Approved EJM5 uc003lyx.4 P14867 OTTHUMG00000163586 ENST00000428797.2:c.188-42C>T chr5.hg19:g.161292685C>T NA D3DQK6|Q8N629 hg19 CCDS4357.1 0.02 19.813113 GGAxGGT COVERED NOVEL GABRA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252702.2 1 12.339817 KEEP 0 0 0 41 1418 CC 1 1 0 + 12 60 458 0 0 27.33485 453 60 16247 598 ENST00000428797.2 0.025806 1 GABRG2 2566 __UNKNOWN__ __UNKNOWN__ 5 161528280 161528280 __UNKNOWN__ Silent SNP C C T rs211037 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:161528280C>T ENST00000356592.3 + 5 1048 c.588C>T c.(586-588)aaC>aaT p.N196N GABRG2_ENST00000414552.2_Silent_p.N196N|GABRG2_ENST00000393933.4_Silent_p.N101N|GABRG2_ENST00000361925.4_Silent_p.N196N NM_000816.3|NM_198904.2 NP_000807.2|NP_944494.1 P18507 GBRG2_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 2 196 NA adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810) axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211) benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890) p.N196N(1) NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 62 Renal(175;0.000319) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136) Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897) AATTGCACAACTTTCCAATGG 0.358 NA C||| 1861 0.371605 0.4682 0.2507 5008 , , NA 17256 0.6012 NA 0.2435 False NA ,,, NA NA NA 2504 0.2219 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) C ,, 1906,2500 545.1+/-376.7 413,1080,710 112 104 106 588,588,588 3.5 1 5 dbSNP_79 106 2088,6512 358.8+/-331.3 269,1550,2481 no coding-synonymous,coding-synonymous,coding-synonymous GABRG2 NM_000816.3,NM_198903.2,NM_198904.2 ,, 682,2630,3191 TT,TC,CC 24.2791,43.2592,30.7089 ,, 196/468,196/516,196/476 161528280 3994,9012 2203 4300 6503 SO:0001819 synonymous_variant CCDS4358.1, CCDS4359.1, CCDS47333.1 5q34 2012-06-22 ENSG00000113327 ENSG00000113327 2566 GABA receptors, Ligand-gated ion channels / GABA(A) receptors 4087 protein-coding gene gene with protein product GABA(A) receptor, gamma 2 137164 NA Standard NM_198904 NA Approved uc010jjc.3 P18507 OTTHUMG00000130350 ENST00000356592.3:c.588C>T chr5.hg19:g.161528280C>T NA F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15 hg19 CCDS4359.1 0.02 15.915039 CAAxTTT COVERED NOVEL GABRG2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252705.2 2 12.039408 KEEP 0 0 0 40 1437 CC 1 1 0 + 22 60 805 0 0 54.649951 353 60 13115 488 ENST00000356592.3 0.058667 1 CCNG1 900 __UNKNOWN__ __UNKNOWN__ 5 162870636 162870636 __UNKNOWN__ Intron SNP G G C rs2069367 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:162870636G>C ENST00000512163.1 + 6 863 CCNG1_ENST00000511683.2_Intron|CCNG1_ENST00000510664.1_Intron|AC112205.1_ENST00000599797.1_Intron|CCNG1_ENST00000504553.1_Intron|CCNG1_ENST00000340828.2_Intron|CCNG1_ENST00000393929.1_Intron P51959 CCNG1_HUMAN cyclin G1 NA NA brain development (GO:0007420)|cell growth (GO:0016049)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to organonitrogen compound (GO:0010243)|syncytium formation (GO:0006949) dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471) autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(2) 12 Renal(175;0.000281) Medulloblastoma(196;0.00853)|all_neural(177;0.0408) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0597)|OV - Ovarian serous cystadenocarcinoma(192;0.107)|Epithelial(171;0.164) AGGCAGACTGGCTTCTGTTAA 0.289 NA G||| 203 0.0405351 0.0 0.0461 5008 , , NA 18189 0.1657 NA 0.001 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D78341 CCDS4360.1 5q32-q34 2010-11-15 ENSG00000113328 ENSG00000113328 900 1592 protein-coding gene gene with protein product 601578 CCNG NA 8954786, 8806701 Standard NM_004060 NM_004060 NA Approved uc003lzb.3 P51959 OTTHUMG00000130380 ENST00000512163.1:c.484-44G>C chr5.hg19:g.162870636G>C NA B2R7B2|B4DLW7|D3DQK7|Q15757|Q96L32 hg19 0.02 19.234756 CTGxCTT COVERED NOVEL CCNG1-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000372908.1 3 21.970907 KEEP 0 0 0 73 2546 GG 1 1 0 + 14 60 521 0 0 31.390436 460 60 16512 615 ENST00000512163.1 0.029536 1 TENM2 57451 __UNKNOWN__ __UNKNOWN__ 5 167690217 167690217 __UNKNOWN__ 3'UTR SNP A A G rs3733989 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:167690217A>G ENST00000519204.1 + 0 8482 TENM2_ENST00000403607.2_3'UTR Q9NT68 TEN2_HUMAN teneurin transmembrane protein 2 NA NA axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351) cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202) cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102) NA cacaCGGACCAATAAACAAAG 0.413 NA G||| 3182 0.635383 0.8676 0.5677 5008 , , NA 19580 0.2063 NA 0.7107 False NA ,,, NA NA NA 2504 0.7342 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB032953 5q35 2012-10-02 2012-10-02 2012-10-02 ENSG00000145934 ENSG00000145934 57451 29943 protein-coding gene gene with protein product 610119 odz, odd Oz/ten-m homolog 2 (Drosophila) ODZ2 NA 10625539 Standard NM_001122679 NM_001122679 NA Approved KIAA1127, Ten-M2 uc010jjd.3 Q9NT68 OTTHUMG00000162928 ENST00000519204.1:c.*402A>G chr5.hg19:g.167690217A>G NA Q9ULU2 hg19 0.02 6.686246 ACCxATA COVERED NOVEL TENM2-010 NOVEL basic protein_coding NA protein_coding OTTHUMT00000371190.2 0 11.433264 KEEP 0 0 0 38 1176 AA 1 1 0 + 12 60 400 0 0 27.328915 145 60 5369 235 ENST00000519204.1 0.076433 1 WWC1 23286 __UNKNOWN__ __UNKNOWN__ 5 167858434 167858434 __UNKNOWN__ Silent SNP T T C rs3822658 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:167858434T>C ENST00000521089.1 + 15 2268 c.2265T>C c.(2263-2265)caT>caC p.H755H WWC1_ENST00000522140.1_3'UTR|WWC1_ENST00000265293.4_Silent_p.H755H Q8IX03 KIBRA_HUMAN WW and C2 domain containing 1 755 C2. NA cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587) kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713) breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4) 43 Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0399)|all_neural(177;0.0577) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918) ACAGGAGCCATCTGGAAGAGT 0.572 NA T||| 84 0.0167732 0.0 0.0014 5008 , , NA 14554 0.0556 NA 0.0179 False NA ,,, NA NA NA 2504 0.0092 NA NA NA NA 0 T ,, 6,4400 11.4+/-27.6 0,6,2197 41 38 39 2265,2265,2265 -7.2 0 5 dbSNP_107 39 66,8534 37.8+/-93.5 0,66,4234 no coding-synonymous,coding-synonymous,coding-synonymous WWC1 NM_001161661.1,NM_001161662.1,NM_015238.2 ,, 0,72,6431 CC,CT,TT 0.7674,0.1362,0.5536 ,, 755/1120,755/1119,755/1114 167858434 72,12934 2203 4300 6503 SO:0001819 synonymous_variant AF506799 CCDS4366.1, CCDS54945.1 5q34 2014-06-13 2006-11-09 ENSG00000113645 ENSG00000113645 23286 WW, C2 and coiled-coil domain containing 29435 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 168 610533 WW, C2 and coiled-coil domain containing 1 NA 10048485, 12559952 Standard NM_015238 NM_001161661 NA Approved KIBRA, KIAA0869, PPP1R168 uc011den.2 Q8IX03 OTTHUMG00000130408 ENST00000521089.1:c.2265T>C chr5.hg19:g.167858434T>C NA B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29 hg19 CCDS54945.1 0.02 6.70691 CCAxCTG COVERED 39 0.017857142857142856 0 0.0 0 0.0 23 0.04020979020979021 16 0.021108179419525065 T 5.524 0.281662 0.10458 0.001362 0.007674 ENSG00000113645 ENST00000393895;ENST00000524228 . . . 5.24 -7.21 0.01490 . . . . . T 0.05777 0.0151 . . . 0.20307 N 0.999911 . . . . . . T 0.19943 -1.0290 4 . . . . 5.7589 0.18188 0.0973:0.4751:0.0983:0.3293 rs3822658;rs3822658 . . . P 717;532 . . S + 1 0 WWC1 167791012 0.000000 0.05858 0.000000 0.03702 0.800000 0.45204 -0.315000 0.08081 -1.361000 0.02169 -0.290000 0.09829 TCT NOVEL WWC1-002 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000371184.1 1 7.222716 KEEP 0 0 0 24 784 TT 0.999909 0.999909 0 + 6 60 225 0 0 14.15732 160 70 5772 232 ENST00000521089.1 0.036145 1 PANK3 79646 __UNKNOWN__ __UNKNOWN__ 5 167983689 167983689 __UNKNOWN__ 3'UTR SNP G G A rs149052160 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:167983689G>A ENST00000239231.6 - 0 2316 NM_024594.3 NP_078870.1 Q9H999 PANK3_HUMAN pantothenate kinase 3 NA NA coenzyme A biosynthetic process (GO:0015937) cytoplasm (GO:0005737) ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594) NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 16 Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188) ACTAGACTGTGAATATTTACA 0.333 NA G||| 8 0.00159744 0.0 0.0 5008 , , NA 18742 0.0079 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK022961 CCDS4368.1 5q35.1 2008-02-05 ENSG00000120137 ENSG00000120137 79646 19365 protein-coding gene gene with protein product 606161 NA 11479594 Standard NM_024594 NM_024594 NA Approved FLJ12899 uc003lzz.2 Q9H999 OTTHUMG00000130410 ENST00000239231.6:c.*887C>T chr5.hg19:g.167983689G>A NA D3DQL1|Q53FJ9|Q7RTX4 hg19 CCDS4368.1 0.02 7.762145 TGTxAAT COVERED NOVEL PANK3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252793.2 2 19.561298 KEEP 0 0 0 65 2243 GG 1 1 0 - 7 60 253 0 0 15.077929 220 60 8356 354 ENST00000239231.6 0.030837 1 SLIT3 6586 __UNKNOWN__ __UNKNOWN__ 5 168233413 168233413 __UNKNOWN__ Intron SNP G G A rs3797716 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:168233413G>A ENST00000519560.1 - 9 1355 SLIT3_ENST00000332966.8_Intron|SLIT3_ENST00000404867.3_Intron NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) NA NA apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385) extracellular space (GO:0005615)|mitochondrion (GO:0005739) calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TGAATTCTCCGGCGACAGTTG 0.557 NA A||| 2758 0.550719 0.6142 0.4741 5008 , , NA 20916 0.5942 NA 0.495 False NA ,,, NA NA NA 2504 0.5317 NA NA NA Ovarian(29;311 847 10864 17279 24903) NA 0 A 2604,1802 528.7+/-372.5 778,1048,377 44 43 43 -0.6 0 5 dbSNP_107 43 4165,4435 585.3+/-391.9 1005,2155,1140 no intron SLIT3 NM_003062.2 1783,3203,1517 AA,AG,GG 48.4302,40.8988,47.9548 168233413 6769,6237 2203 4300 6503 SO:0001627 intron_variant AB011538 CCDS4369.1, CCDS64311.1 5q35 2008-07-18 2001-11-28 ENSG00000184347 ENSG00000184347 6586 11087 protein-coding gene gene with protein product 603745 slit (Drosophila) homolog 3 SLIL2 NA 9693030, 9813312 Standard NM_003062 NM_001271946 NA Approved slit2, MEGF5, SLIT1, Slit-3 uc010jjg.4 O75094 OTTHUMG00000130409 ENST00000519560.1:c.935+37C>T chr5.hg19:g.168233413G>A NA A6H8U9|J3KNP3|O95804|Q9UFH5 hg19 CCDS4369.1 0.02 17.992886 TCCxGCG COVERED NOVEL SLIT3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252792.4 1 12.574494 KEEP 0 1 29 52 1795 GG 1 1 0 - 16 60 606 0 0 38.693444 406 60 13966 563 ENST00000519560.1 0.037915 1 SLIT3 6586 __UNKNOWN__ __UNKNOWN__ 5 168244256 168244256 __UNKNOWN__ Intron SNP G G C rs67968410|rs544566682 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:168244256G>C ENST00000519560.1 - 8 1213 SLIT3_ENST00000332966.8_Intron|SLIT3_ENST00000404867.3_Intron NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) NA NA apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385) extracellular space (GO:0005615)|mitochondrion (GO:0005739) calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GGAGCTCATGGGTGGGTGGGT 0.557 NA g||| 759 0.151558 0.0174 0.1052 5008 , , NA 15776 0.1687 NA 0.1799 False NA ,,, NA NA NA 2504 0.319 NA NA NA Ovarian(29;311 847 10864 17279 24903) NA 0 A 207,4199 124.5+/-161.8 3,201,1999 48 47 48 1.9 0 5 dbSNP_130 48 1460,7140 273.1+/-290.5 117,1226,2957 no intron SLIT3 NM_003062.2 120,1427,4956 CC,CG,GG 16.9767,4.6981,12.8172 168244256 1667,11339 2203 4300 6503 SO:0001627 intron_variant AB011538 CCDS4369.1, CCDS64311.1 5q35 2008-07-18 2001-11-28 ENSG00000184347 ENSG00000184347 6586 11087 protein-coding gene gene with protein product 603745 slit (Drosophila) homolog 3 SLIL2 NA 9693030, 9813312 Standard NM_003062 NM_001271946 NA Approved slit2, MEGF5, SLIT1, Slit-3 uc010jjg.4 O75094 OTTHUMG00000130409 ENST00000519560.1:c.793+48C>G chr5.hg19:g.168244256G>C NA A6H8U9|J3KNP3|O95804|Q9UFH5 hg19 CCDS4369.1 0.02 4.032259 ATGxGTG COVERED NOVEL SLIT3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252792.4 0 3.61179 KEEP 0 0 0 12 426 GG 0.993634 0.993632 0 - 9 60 322 0 0 22.683663 109 60 3887 139 ENST00000519560.1 0.076271 0.999998 DOCK2 1794 __UNKNOWN__ __UNKNOWN__ 5 169129284 169129284 __UNKNOWN__ Intron SNP G G A rs2306560 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:169129284G>A ENST00000256935.8 + 14 1338 NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 NA NA actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032) cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608) NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ACTAACTCTTGTCTCTCTCTC 0.463 NA OREG0017017 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) G||| 1308 0.261182 0.292 0.428 5008 , , NA 22168 0.1984 NA 0.2247 False NA ,,, NA NA NA 2504 0.2035 NA NA NA NA 0 G 1148,3258 407.5+/-334.3 133,882,1188 105 100 102 -0.5 0 5 dbSNP_100 102 1979,6621 348.4+/-327.0 242,1495,2563 no intron DOCK2 NM_004946.2 375,2377,3751 AA,AG,GG 23.0116,26.0554,24.0427 169129284 3127,9879 2203 4300 6503 SO:0001627 intron_variant BC016996 CCDS4371.1 5q35.1 2008-02-05 ENSG00000134516 ENSG00000134516 1794 2988 protein-coding gene gene with protein product 603122 dedicator of cyto-kinesis 2 NA Standard NM_004946 NM_004946 NA Approved KIAA0209 uc003maf.3 Q92608 OTTHUMG00000130437 ENST00000256935.8:c.1259-23G>A chr5.hg19:g.169129284G>A 1875 Q2M3I0|Q96AK7 hg19 CCDS4371.1 0.02 2.182224 CTTxTCT COVERED NOVEL DOCK2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252828.2 0 5.116667 KEEP 0 0 0 17 602 GG 0.999366 0.995602 0 + 4 60 149 0 0 10.203242 64 60 2468 99 ENST00000256935.8 0.058824 0.996233 DOCK2 1794 __UNKNOWN__ __UNKNOWN__ 5 169412948 169412948 __UNKNOWN__ Intron SNP C C T rs73327864 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:169412948C>T ENST00000520908.1 + 15 1633 DOCK2_ENST00000540750.1_Intron|DOCK2_ENST00000523351.1_Intron|DOCK2_ENST00000256935.8_Intron Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 NA NA actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032) cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608) NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CCTGCTTCCGCAAAGCTACCT 0.443 NA T||| 355 0.0708866 0.23 0.0303 5008 , , NA 17710 0.0228 NA 0.001 False NA ,,, NA NA NA 2504 0.0061 NA NA NA NA 0 T 874,3532 744.1+/-411.5 83,708,1412 149 142 144 -3.2 0 5 dbSNP_130 144 19,8581 818.5+/-406.9 0,19,4281 no intron DOCK2 NM_004946.2 83,727,5693 TT,TC,CC 0.2209,19.8366,6.8661 169412948 893,12113 2203 4300 6503 SO:0001627 intron_variant BC016996 CCDS4371.1 5q35.1 2008-02-05 ENSG00000134516 ENSG00000134516 1794 2988 protein-coding gene gene with protein product 603122 dedicator of cyto-kinesis 2 NA Standard NM_004946 NM_004946 NA Approved KIAA0209 uc003maf.3 Q92608 OTTHUMG00000130437 ENST00000520908.1:c.1469+22C>T chr5.hg19:g.169412948C>T NA Q2M3I0|Q96AK7 hg19 0.02 6.267019 CCGxAAA COVERED NOVEL DOCK2-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000371643.1 1 5.116827 KEEP 0 0 0 17 616 CC 0.999366 0.999366 0 + 6 60 218 0 0 13.215367 176 60 6723 250 ENST00000520908.1 0.032967 1 DOCK2 1794 __UNKNOWN__ __UNKNOWN__ 5 169435710 169435710 __UNKNOWN__ Silent SNP G G T rs58980222 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:169435710G>T ENST00000520908.1 + 18 1832 c.1668G>T c.(1666-1668)cgG>cgT p.R556R DOCK2_ENST00000540750.1_Silent_p.R125R|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000256935.8_Silent_p.R1064R Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1064 DHR-1. NA actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032) cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608) NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ACATGAGACGGCTAATTGGCT 0.483 NA G||| 52 0.0103834 0.0174 0.0058 5008 , , NA 19903 0.0208 NA 0.0 False NA ,,, NA NA NA 2504 0.0041 NA NA NA NA 0 G 52,4354 51.6+/-87.1 0,52,2151 232 201 211 3192 2.1 0.8 5 dbSNP_129 211 0,8600 0,0,4300 no coding-synonymous DOCK2 NM_004946.2 0,52,6451 TT,TG,GG 0.0,1.1802,0.3998 1064/1831 169435710 52,12954 2203 4300 6503 SO:0001819 synonymous_variant BC016996 CCDS4371.1 5q35.1 2008-02-05 ENSG00000134516 ENSG00000134516 1794 2988 protein-coding gene gene with protein product 603122 dedicator of cyto-kinesis 2 NA Standard NM_004946 NM_004946 NA Approved KIAA0209 uc003maf.3 Q92608 OTTHUMG00000130437 ENST00000520908.1:c.1668G>T chr5.hg19:g.169435710G>T NA Q2M3I0|Q96AK7 hg19 0.02 10.253048 ACGxCTA COVERED NOVEL DOCK2-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000371643.1 2 5.417453 KEEP 0 0 0 18 636 GG 0.999859 0.999859 0 + 8 60 286 0 0 16.901238 253 60 9400 326 ENST00000520908.1 0.030651 1 KCNIP1 30820 __UNKNOWN__ __UNKNOWN__ 5 169780757 169780757 __UNKNOWN__ 5'UTR SNP C C T rs6894729 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:169780757C>T ENST00000377360.4 + 0 267 KCNIP1_ENST00000518527.1_3'UTR NM_001034838.2 NP_001030010.1 Q9NZI2 KCIP1_HUMAN Kv channel interacting protein 1 NA NA detection of calcium ion (GO:0005513)|positive regulation of action potential (GO:0045760)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268) dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|potassium channel complex (GO:0034705) calcium ion binding (GO:0005509)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|voltage-gated ion channel activity (GO:0005244) autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 18 Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297) Medulloblastoma(196;0.0109)|all_neural(177;0.0177) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CGGAGCCTGGCTTCAGGGGTG 0.622 NA C||| 808 0.161342 0.1498 0.1974 5008 , , NA 17851 0.2163 NA 0.1511 False NA ,,, NA NA NA 2504 0.1053 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF199597 CCDS34285.1, CCDS34286.1, CCDS4374.1, CCDS64312.1, CCDS64313.1 5q35 2013-01-10 ENSG00000182132 ENSG00000182132 30820 EF-hand domain containing 15521 protein-coding gene gene with protein product 604660 NA 10676964 Standard NM_001278339 NA Approved KCHIP1 uc003map.3 Q9NZI2 OTTHUMG00000130442 ENST00000377360.4:c.-124C>T chr5.hg19:g.169780757C>T NA B7Z7B4|Q3YAD0|Q3YAD1|Q3YAD2|Q3YAD3|Q5U822 hg19 CCDS34285.1 0.02 3.888041 TGGxTTC COVERED NOVEL KCNIP1-005 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000371845.1 0 3.31025 KEEP 0 0 0 11 377 CC 0.993072 0.993068 0 + 8 60 243 0 0 15.736357 105 60 3736 133 ENST00000377360.4 0.070796 0.999995 KCNMB1 3779 __UNKNOWN__ __UNKNOWN__ 5 169812303 169812303 __UNKNOWN__ Intron SNP G G A rs2071156 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:169812303G>A ENST00000274629.4 - 2 577 KCNIP1_ENST00000518527.1_Intron|KCNMB1_ENST00000521859.1_Intron|KCNIP1_ENST00000377360.4_Intron NM_004137.3 NP_004128.1 Q16558 KCMB1_HUMAN potassium large conductance calcium-activated channel, subfamily M, beta member 1 NA NA blood coagulation (GO:0007596)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to calcium ion (GO:0051592)|synaptic transmission (GO:0007268) plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076) calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459) endometrium(1)|large_intestine(1)|lung(7)|ovary(2) 11 Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026) Medulloblastoma(196;0.0109)|all_neural(177;0.0146) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.175) Miconazole(DB01110)|Procaine(DB00721) TGGGCAGGCCGGGAGAGCTCA 0.582 NA G||| 1205 0.240615 0.2753 0.2061 5008 , , NA 18953 0.2192 NA 0.17 False NA ,,, NA NA NA 2504 0.3129 NA NA NA NA 0 G , 1143,3263 407.1+/-334.1 161,821,1221 122 112 115 , -9 0 5 dbSNP_96 115 1617,6983 301.7+/-305.6 158,1301,2841 no intron,intron KCNMB1,KCNIP1 NM_001034838.1,NM_004137.2 , 319,2122,4062 AA,AG,GG 18.8023,25.9419,21.221 , , 169812303 2760,10246 2203 4300 6503 SO:0001627 intron_variant AF035046 CCDS4373.1 5q34 2012-02-23 ENSG00000145936 ENSG00000145936 3779 Potassium channels 6285 protein-coding gene gene with protein product BK channel beta subunit 603951 NA 8799178, 9888999 Standard NM_004137 NA Approved hslo-beta uc003maq.2 Q16558 OTTHUMG00000130439 ENST00000274629.4:c.134+14C>T chr5.hg19:g.169812303G>A NA O00707|O00708|P78475|Q53YR0|Q8TAX3|Q93005 hg19 CCDS4373.1 0.02 6.921427 GCCxGGA COVERED NOVEL KCNMB1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252830.3 0 5.417113 KEEP 0 0 0 18 605 GG 0.999859 0.999859 0 - 7 60 255 0 0 16.50075 146 60 4625 194 ENST00000274629.4 0.045752 1 FBXW11 23291 __UNKNOWN__ __UNKNOWN__ 5 171404161 171404161 __UNKNOWN__ Intron SNP T T C rs562628361 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:171404161T>C ENST00000296933.6 - 1 416 FBXW11_ENST00000393802.2_Intron|FBXW11_ENST00000265094.5_Intron|FBXW11_ENST00000425623.2_Intron NM_033644.2|NM_033645.2 NP_387448.2|NP_387449.2 Q9UKB1 FBW1B_HUMAN F-box and WD repeat domain containing 11 NA NA G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|Wnt signaling pathway (GO:0016055) centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151) ubiquitin-protein transferase activity (GO:0004842) breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2) 21 Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659) Medulloblastoma(196;0.00853)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) ctgggcaacatagggagaccc 0.522 NA T||| 6 0.00119808 0.0 0.0 5008 , , NA 15648 0.003 NA 0.0 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB014596 CCDS34289.1, CCDS47340.1, CCDS47341.1 5q35.1 2013-01-09 2007-02-08 2004-06-16 ENSG00000072803 ENSG00000072803 23291 F-boxes / WD-40 domains, WD repeat domain containing 13607 protein-coding gene gene with protein product 605651 F-box and WD-40 domain protein 1B, F-box and WD-40 domain protein 11 FBXW1B NA 10531035, 10694485 Standard NM_012300 NM_033644 NA Approved KIAA0696, Fbw1b, BTRCP2, BTRC2, Hos, Fbw11 uc003mbm.1 Q9UKB1 OTTHUMG00000163267 ENST00000296933.6:c.45+29300A>G chr5.hg19:g.171404161T>C NA B2RC98|Q9P2S8|Q9P2S9|Q9Y4C6 hg19 CCDS47341.1 0.02 -0.061413 ACAxAGG UNCOVERED NOVEL FBXW11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000372381.1 1 5.114113 KEEP 0 0 0 17 524 TT 0.999366 0.043759 0 - 2 60 80 0 0 7.135515 5 60 185 37 ENST00000296933.6 0.285714 0.043787 STK10 6793 __UNKNOWN__ __UNKNOWN__ 5 171469312 171469312 __UNKNOWN__ 3'UTR SNP C C T rs17074232 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:171469312C>T ENST00000176763.5 - 0 5824 NM_005990.3 NP_005981.3 O94804 STK10_HUMAN serine/threonine kinase 10 NA NA cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014) extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674) breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 47 Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094) Medulloblastoma(196;0.00868)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CGAGGAATACCGCGTGGGCCT 0.522 NA T||| 697 0.139177 0.3646 0.0836 5008 , , NA 15859 0.0466 NA 0.0755 False NA ,,, NA NA NA 2504 0.0348 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB015718 CCDS34290.1 5q35.1 2008-07-18 ENSG00000072786 ENSG00000072786 6793 11388 protein-coding gene gene with protein product 603919 NA 10199912 Standard NM_005990 NM_005990 NA Approved LOK, PRO2729 uc003mbo.1 O94804 OTTHUMG00000163265 ENST00000176763.5:c.*2574G>A chr5.hg19:g.171469312C>T NA A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4 hg19 CCDS34290.1 0.02 12.718134 TACxGCG COVERED NOVEL STK10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000372374.2 4 14.144591 KEEP 0 0 0 47 1578 CC 1 1 0 - 10 60 374 0 0 22.69603 322 60 11180 467 ENST00000176763.5 0.03012 1 STK10 6793 __UNKNOWN__ __UNKNOWN__ 5 171469745 171469745 __UNKNOWN__ 3'UTR SNP A A G rs111275093|rs1139955 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:171469745A>G ENST00000176763.5 - 0 5391 NM_005990.3 NP_005981.3 O94804 STK10_HUMAN serine/threonine kinase 10 NA NA cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014) extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674) breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 47 Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094) Medulloblastoma(196;0.00868)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TGAGAGACCTAAAAAACACCC 0.448 NA G||| 952 0.190096 0.5507 0.0922 5008 , , NA 20031 0.0506 NA 0.0755 False NA ,,, NA NA NA 2504 0.0337 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB015718 CCDS34290.1 5q35.1 2008-07-18 ENSG00000072786 ENSG00000072786 6793 11388 protein-coding gene gene with protein product 603919 NA 10199912 Standard NM_005990 NM_005990 NA Approved LOK, PRO2729 uc003mbo.1 O94804 OTTHUMG00000163265 ENST00000176763.5:c.*2141T>C chr5.hg19:g.171469745A>G NA A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4 hg19 CCDS34290.1 0.02 9.109847 CCTxAAA COVERED NOVEL STK10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000372374.2 0 8.425254 KEEP 0 0 0 28 874 AA 0.999997 0.999997 0 - 9 60 341 0 0 22.266501 201 60 7183 283 ENST00000176763.5 0.042857 1 STK10 6793 __UNKNOWN__ __UNKNOWN__ 5 171469982 171469982 __UNKNOWN__ 3'UTR SNP T T C rs7720088 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:171469982T>C ENST00000176763.5 - 0 5154 NM_005990.3 NP_005981.3 O94804 STK10_HUMAN serine/threonine kinase 10 NA NA cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014) extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674) breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 47 Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094) Medulloblastoma(196;0.00868)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CCTAgctgggtgcagtagcat 0.463 NA C||| 917 0.183107 0.5234 0.0937 5008 , , NA 17364 0.0506 NA 0.0755 False NA ,,, NA NA NA 2504 0.0337 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB015718 CCDS34290.1 5q35.1 2008-07-18 ENSG00000072786 ENSG00000072786 6793 11388 protein-coding gene gene with protein product 603919 NA 10199912 Standard NM_005990 NM_005990 NA Approved LOK, PRO2729 uc003mbo.1 O94804 OTTHUMG00000163265 ENST00000176763.5:c.*1904A>G chr5.hg19:g.171469982T>C NA A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4 hg19 CCDS34290.1 0.02 2.045259 GGGxGCA COVERED NOVEL STK10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000372374.2 0 3.309463 KEEP 0 0 0 11 331 TT 0.993072 0.993003 0 - 4 60 138 0 0 8.495361 92 60 3332 120 ENST00000176763.5 0.041667 0.99993 STK10 6793 __UNKNOWN__ __UNKNOWN__ 5 171472077 171472077 __UNKNOWN__ Intron SNP G G A rs377422097 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:171472077G>A ENST00000176763.5 - 19 3110 NM_005990.3 NP_005981.3 O94804 STK10_HUMAN serine/threonine kinase 10 NA NA cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014) extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674) breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 47 Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094) Medulloblastoma(196;0.00868)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CAGGCCACACGTGGGTCTCCC 0.547 NA A||| 5 0.000998403 0.0 0.0 5008 , , NA 18313 0.003 NA 0.0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 A 1,4405 825.9+/-416.6 0,1,2202 47 44 45 -2.4 0 5 45 1,8599 818.5+/-406.9 0,1,4299 no intron STK10 NM_005990.3 0,2,6501 AA,AG,GG 0.0116,0.0227,0.0154 171472077 2,13004 2203 4300 6503 SO:0001627 intron_variant AB015718 CCDS34290.1 5q35.1 2008-07-18 ENSG00000072786 ENSG00000072786 6793 11388 protein-coding gene gene with protein product 603919 NA 10199912 Standard NM_005990 NM_005990 NA Approved LOK, PRO2729 uc003mbo.1 O94804 OTTHUMG00000163265 ENST00000176763.5:c.2767-51C>T chr5.hg19:g.171472077G>A NA A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4 hg19 CCDS34290.1 0.02 4.537986 CACxTGG COVERED NOVEL STK10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000372374.2 3 4.815685 KEEP 0 0 0 16 560 GG 0.997832 0.997832 0 - 6 60 231 0 0 15.189981 135 60 4923 192 ENST00000176763.5 0.042553 1 STK10 6793 __UNKNOWN__ __UNKNOWN__ 5 171583610 171583610 __UNKNOWN__ Intron SNP A A G rs41275267 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:171583610A>G ENST00000176763.5 - 2 665 NM_005990.3 NP_005981.3 O94804 STK10_HUMAN serine/threonine kinase 10 NA NA cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014) extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674) breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 47 Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094) Medulloblastoma(196;0.00868)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GCTGGGACAGACAGGGCGGCA 0.597 NA G||| 1046 0.208866 0.2322 0.2522 5008 , , NA 20741 0.247 NA 0.1431 False NA ,,, NA NA NA 2504 0.1748 NA NA NA NA 0 G 825,3581 747.9+/-411.9 73,679,1451 76 60 65 0.6 0 5 dbSNP_127 65 1337,7263 755.6+/-407.5 87,1163,3050 no intron STK10 NM_005990.3 160,1842,4501 GG,GA,AA 15.5465,18.7245,16.6231 171583610 2162,10844 2203 4300 6503 SO:0001627 intron_variant AB015718 CCDS34290.1 5q35.1 2008-07-18 ENSG00000072786 ENSG00000072786 6793 11388 protein-coding gene gene with protein product 603919 NA 10199912 Standard NM_005990 NM_005990 NA Approved LOK, PRO2729 uc003mbo.1 O94804 OTTHUMG00000163265 ENST00000176763.5:c.321+17T>C chr5.hg19:g.171583610A>G NA A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4 hg19 CCDS34290.1 0.02 6.439802 CAGxCAG COVERED NOVEL STK10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000372374.2 0 2.407527 KEEP 0 0 0 8 258 AA 0.99257 0.99257 0 - 7 60 256 0 0 16.639919 144 60 5130 169 ENST00000176763.5 0.046358 1 EFCAB9 285588 __UNKNOWN__ __UNKNOWN__ 5 171627773 171627773 __UNKNOWN__ Intron SNP G G C rs2306959 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:171627773G>C ENST00000398186.4 + 3 463 NM_001171183.1 NP_001164654.1 A8MZ26 EFCB9_HUMAN EF-hand calcium binding domain 9 NA NA calcium ion binding (GO:0005509) breast(2) 2 AATGTGGCATGTGTGTGGCAG 0.408 NA C||| 3509 0.700679 0.851 0.7507 5008 , , NA 22287 0.6389 NA 0.6869 False NA ,,, NA NA NA 2504 0.5399 NA NA NA NA 0 C 1131,253 467,197,28 77 62 66 -1.1 0 5 dbSNP_100 66 2190,992 759,672,160 no intron EFCAB9 NM_001171183.1 1226,869,188 CC,CG,GG 31.1754,18.2803,27.2668 171627773 3321,1245 692 1591 2283 SO:0001627 intron_variant CCDS54946.1 5q35.1 2013-01-10 ENSG00000214360 ENSG00000214360 285588 EF-hand domain containing 34530 protein-coding gene gene with protein product NA Standard NM_001171183 NM_001171183 NA Approved uc021yhr.1 A8MZ26 OTTHUMG00000163271 ENST00000398186.4:c.462+27G>C chr5.hg19:g.171627773G>C NA hg19 CCDS54946.1 0.02 4.571917 CATxTGT COVERED NOVEL EFCAB9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000372421.1 0 4.514652 KEEP 0 0 0 15 524 GG 0.99649 0.996468 0 + 6 60 214 0 0 14.334548 97 60 3501 122 ENST00000398186.4 0.058252 0.999978 SH3PXD2B 285590 __UNKNOWN__ __UNKNOWN__ 5 171761338 171761338 __UNKNOWN__ Intron SNP C C T rs17074644 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:171761338C>T ENST00000519643.1 - 13 1194 SH3PXD2B_ENST00000311601.5_3'UTR A1X283 SPD2B_HUMAN SH3 and PX domains 2B NA NA adipose tissue development (GO:0060612)|bone development (GO:0060348)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|eye development (GO:0001654)|heart development (GO:0007507)|podosome assembly (GO:0071800)|positive regulation of fat cell differentiation (GO:0045600)|protein localization to membrane (GO:0072657)|skeletal system development (GO:0001501)|superoxide metabolic process (GO:0006801) cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102) phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|SH2 domain binding (GO:0042169) NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 36 Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175) Medulloblastoma(196;0.0207)|all_neural(177;0.0625) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TGGAAACTTACTCTAGTTAGG 0.587 NA T||| 557 0.111222 0.1505 0.0677 5008 , , NA 20560 0.122 NA 0.0984 False NA ,,, NA NA NA 2504 0.091 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK095834 CCDS34291.1 5q35.2 2008-02-05 2006-02-13 2006-02-13 ENSG00000174705 ENSG00000174705 285590 29242 protein-coding gene gene with protein product 613293 KIAA1295 KIAA1295 NA 10718198 Standard NM_017963 NM_001017995 NA Approved FLJ20831 uc003mbr.3 A1X283 OTTHUMG00000163280 ENST00000519643.1:c.1189-8954G>A chr5.hg19:g.171761338C>T NA B6F0V2|Q9P2Q1 hg19 0.02 6.516088 TTAxTCT COVERED NOVEL SH3PXD2B-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000372450.1 0 9.32985 KEEP 0 0 0 31 1101 CC 0.999997 0.999997 0 - 6 60 215 0 0 13.176279 159 60 6072 243 ENST00000519643.1 0.036364 1 ERGIC1 57222 __UNKNOWN__ __UNKNOWN__ 5 172344999 172344999 __UNKNOWN__ Intron SNP C C T rs7719807 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:172344999C>T ENST00000523291.1 + 6 378 ERGIC1_ENST00000393784.3_Intron|ERGIC1_ENST00000326654.2_3'UTR Q969X5 ERGI1_HUMAN endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1 NA NA ER to Golgi vesicle-mediated transport (GO:0006888) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020) endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2) 9 Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) aaaccctgtacctacaaaaaa 0.517 NA T||| 2338 0.466853 0.7769 0.415 5008 , , NA 16600 0.1815 NA 0.4384 False NA ,,, NA NA NA 2504 0.408 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF267855 CCDS34292.1 5q35.1 2009-11-06 ENSG00000113719 ENSG00000113719 57222 29205 protein-coding gene gene with protein product NA 10574461, 15308636 Standard NM_020462 NM_001031711 NA Approved ERGIC32, ERGIC-32, KIAA1181, NET24 uc003mbw.4 Q969X5 OTTHUMG00000130520 ENST00000523291.1:c.376-2368C>T chr5.hg19:g.172344999C>T NA Q9H0L0|Q9H2J2|Q9ULN9 hg19 0.02 3.956544 GTAxCTA COVERED NOVEL ERGIC1-013 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000329263.1 12 29.796691 KEEP 0 0 0 99 3499 CC 1 1 0 + 8 60 288 0 0 19.329803 131 60 4844 306 ENST00000523291.1 0.057554 1 ERGIC1 57222 __UNKNOWN__ __UNKNOWN__ 5 172347440 172347440 __UNKNOWN__ 3'UTR SNP G G A rs13187960 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:172347440G>A ENST00000523291.1 + 0 452 ERGIC1_ENST00000393784.3_Intron Q969X5 ERGI1_HUMAN endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1 NA NA ER to Golgi vesicle-mediated transport (GO:0006888) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020) endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2) 9 Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GAGACCCCACGGTGACCTCGT 0.577 NA G||| 1073 0.214257 0.1959 0.2176 5008 , , NA 17263 0.0853 NA 0.335 False NA ,,, NA NA NA 2504 0.2454 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF267855 CCDS34292.1 5q35.1 2009-11-06 ENSG00000113719 ENSG00000113719 57222 29205 protein-coding gene gene with protein product NA 10574461, 15308636 Standard NM_020462 NM_001031711 NA Approved ERGIC32, ERGIC-32, KIAA1181, NET24 uc003mbw.4 Q969X5 OTTHUMG00000130520 ENST00000523291.1:c.*32G>A chr5.hg19:g.172347440G>A NA Q9H0L0|Q9H2J2|Q9ULN9 hg19 0.02 16.980589 CACxGTG COVERED NOVEL ERGIC1-013 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000329263.1 2 36.092131 KEEP 0 0 0 120 4049 GG 1 1 0 + 22 60 822 0 0 56.830804 335 60 11867 601 ENST00000523291.1 0.061625 1 CREBRF 153222 __UNKNOWN__ __UNKNOWN__ 5 172494772 172494772 __UNKNOWN__ Intron SNP G G A rs58066026 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:172494772G>A ENST00000296953.2 + 1 128 CREBRF_ENST00000540014.1_Intron|CREBRF_ENST00000520420.1_Intron|CREBRF_ENST00000522692.1_Intron NM_153607.2 NP_705835.2 Q8IUR6 CRERF_HUMAN CREB3 regulatory factor NA NA negative regulation of endoplasmic reticulum unfolded protein response (GO:1900102)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular transport (GO:0032388)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein transport (GO:0051222)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810) cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634) sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) NA aggctgaggcgggtggatcaa 0.502 NA G||| 355 0.0708866 0.028 0.0706 5008 , , NA 16079 0.0069 NA 0.1173 False NA ,,, NA NA NA 2504 0.1472 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY139008 CCDS34293.1, CCDS54948.1 5q35.2 2012-03-06 2012-03-06 2012-03-06 ENSG00000164463 ENSG00000164463 153222 24050 protein-coding gene gene with protein product luman/CREB3 recruitment factor chromosome 5 open reading frame 41 C5orf41 NA 18391022 Standard NM_153607 NM_153607 NA Approved LRF uc003mch.3 Q8IUR6 OTTHUMG00000163322 ENST00000296953.2:c.-192+11290G>A chr5.hg19:g.172494772G>A NA B3DFH2|B3KW49|D3DQM2|F5GXN3|Q5HYG4|Q5HYK0|Q86YR3|Q8IZG1 hg19 CCDS34293.1 0.02 -0.026319 GGCxGGT UNCOVERED NOVEL CREBRF-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000372667.1 0 2.708157 KEEP 0 0 0 9 297 GG 0.99254 0 0 + 2 60 70 0 0 7.124671 1 60 42 19 ENST00000296953.2 0.666667 0 BOD1 91272 __UNKNOWN__ __UNKNOWN__ 5 173036161 173036161 __UNKNOWN__ Intron SNP C C T rs2279188 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:173036161C>T ENST00000480951.1 - 2 454 BOD1_ENST00000311086.4_Intron|BOD1_ENST00000285908.5_Intron Q96IK1 BOD1_HUMAN biorientation of chromosomes in cell division 1 NA NA mitotic nuclear division (GO:0007067) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|kinetochore (GO:0000776) endometrium(1)|large_intestine(2)|lung(2)|ovary(2) 7 TCCTCAATTACGGCCTACCCC 0.413 NA C||| 1156 0.230831 0.0371 0.1182 5008 , , NA 21342 0.6448 NA 0.1004 False NA ,,, NA NA NA 2504 0.2802 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY303777 CCDS4389.1, CCDS54951.1 5q35.2 2013-10-11 2009-03-04 2009-03-04 ENSG00000145919 ENSG00000145919 91272 25114 protein-coding gene gene with protein product biorientation defective 1 family with sequence similarity 44, member B FAM44B NA 17938248 Standard NM_138369 NM_138369 NA Approved uc003mcq.2 Q96IK1 OTTHUMG00000130540 ENST00000480951.1:c.238-866G>A chr5.hg19:g.173036161C>T NA B4DXH8|Q9BTW1 hg19 0.02 13.311199 TTAxGGC COVERED NOVEL BOD1-005 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000351718.1 2 13.242942 KEEP 0 0 0 44 1530 CC 1 1 0 - 14 60 518 0 0 33.502472 307 60 11205 439 ENST00000480951.1 0.043614 1 NSG2 0 __UNKNOWN__ __UNKNOWN__ 5 173632336 173632336 __UNKNOWN__ Intron SNP A A G rs7731312 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:173632336A>G ENST00000521585.1 + 4 440 Q9Y328 NSG2_HUMAN NA NA clathrin coat assembly (GO:0048268)|dopamine receptor signaling pathway (GO:0007212) cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) NA taatctacctaatcctagcct 0.403 NA A||| 1526 0.304712 0.2542 0.3012 5008 , , NA 21047 0.5417 NA 0.1402 False NA ,,, NA NA NA 2504 0.3006 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000521585.1:c.297+29A>G chr5.hg19:g.173632336A>G NA B2R5Y0|D3DQN0|Q9UHX8 hg19 0.02 14.468261 CCTxATC COVERED NOVEL NSG2-002 PUTATIVE basic protein_coding NA protein_coding OTTHUMT00000371792.3 2 7.522682 KEEP 0 0 0 25 783 AA 0.999931 0.999931 0 + 10 60 384 0 0 24.102297 293 60 10430 386 ENST00000521585.1 0.033003 1 SFXN1 94081 __UNKNOWN__ __UNKNOWN__ 5 174955746 174955746 __UNKNOWN__ 3'UTR SNP G G C rs273077 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:174955746G>C ENST00000321442.5 + 0 3232 NM_022754.5 NP_073591.2 Q9H9B4 SFXN1_HUMAN sideroflexin 1 NA NA erythrocyte differentiation (GO:0030218)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826) integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743) cation transmembrane transporter activity (GO:0008324) endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(3) 15 all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873) Medulloblastoma(196;0.0399)|all_neural(177;0.0663) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) GAAGCAAAACGGTTTTCCCAT 0.443 NA G||| 2365 0.472244 0.2133 0.5951 5008 , , NA 16793 0.5595 NA 0.672 False NA ,,, NA NA NA 2504 0.4397 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF327346 CCDS4394.1 5q35.3 2008-02-05 ENSG00000164466 ENSG00000164466 94081 Sideroflexins 16085 protein-coding gene gene with protein product 615569 NA Standard NM_022754 NM_022754 NA Approved FLJ12876 uc003mda.2 Q9H9B4 OTTHUMG00000130555 ENST00000321442.5:c.*2009G>C chr5.hg19:g.174955746G>C NA B3KPW3|D3DQN2|Q9HA53 hg19 CCDS4394.1 0.02 4.040502 AACxGTT COVERED NOVEL SFXN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252980.2 3 6.62143 KEEP 0 0 0 22 764 GG 0.999879 0.999879 0 + 8 60 277 0 0 18.18611 133 60 4606 202 ENST00000321442.5 0.056738 1 CPLX2 10814 __UNKNOWN__ __UNKNOWN__ 5 175310713 175310713 __UNKNOWN__ 3'UTR SNP C C T rs2288388 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:175310713C>T ENST00000359546.4 + 0 4713 NM_001008220.1|NM_006650.3 NP_001008221.1|NP_006641.1 Q6PUV4 CPLX2_HUMAN complexin 2 NA NA cell differentiation (GO:0030154)|mast cell degranulation (GO:0043303)|nervous system development (GO:0007399)|positive regulation of synaptic plasticity (GO:0031915)|regulation of exocytosis (GO:0017157)|synaptic vesicle exocytosis (GO:0016079)|vesicle docking involved in exocytosis (GO:0006904) dendrite (GO:0030425)|mast cell granule (GO:0042629)|neuronal cell body (GO:0043025)|synapse (GO:0045202)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin II complex (GO:0070033)|synaptobrevin 2-SNAP-25-syntaxin-3-complexin complex (GO:0070554) endometrium(3)|kidney(2)|lung(3)|ovary(2) 10 all_cancers(89;0.004)|Renal(175;0.000269)|Lung NSC(126;0.00441)|all_lung(126;0.00747) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) CTCCTGTCACCCCACGCTCTG 0.682 NA c||| 1397 0.278954 0.2201 0.2291 5008 , , NA 18819 0.4921 NA 0.1521 False NA ,,, NA NA NA 2504 0.3047 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U35100 CCDS4396.1 5q35.2 2008-05-23 ENSG00000145920 ENSG00000145920 10814 2310 protein-coding gene gene with protein product 605033 NA 7553862, 16162394 Standard XM_005265798 NA Approved CPX-2, DKFZp547D155 uc003mdf.1 Q6PUV4 OTTHUMG00000130665 ENST00000359546.4:c.*3665C>T chr5.hg19:g.175310713C>T NA B2RAG2|O09056|Q13329|Q28184|Q52M15|Q64386 hg19 CCDS4396.1 0.02 13.447073 CACxCCA COVERED NOVEL CPLX2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253157.2 2 12.639471 KEEP 0 0 0 42 1445 CC 1 1 0 + 9 60 341 0 0 20.356322 331 60 11953 454 ENST00000359546.4 0.026471 1 THOC3 84321 __UNKNOWN__ __UNKNOWN__ 5 175392664 175392664 __UNKNOWN__ Intron SNP G G A rs78058801 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:175392664G>A ENST00000265097.4 - 3 515 THOC3_ENST00000513482.1_Intron|THOC3_ENST00000510300.1_Intron|THOC3_ENST00000514861.1_Intron NM_032361.2 NP_115737.1 Q96J01 THOC3_HUMAN THO complex 3 NA NA mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784) THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346) RNA binding (GO:0003723) endometrium(1)|kidney(1)|large_intestine(2) 4 all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Kidney(146;0.0965) tcctgacctcgtgatccgccc 0.552 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC006849 CCDS4397.1 5q35.3 2013-02-11 ENSG00000051596 ENSG00000051596 84321 WD repeat domain containing, THO complex subunits 19072 protein-coding gene gene with protein product 606929 NA 11979277 Standard NM_032361 NA Approved TEX1, MGC5469 uc003mdg.5 Q96J01 OTTHUMG00000130658 ENST00000265097.4:c.425-506C>T chr5.hg19:g.175392664G>A NA Q6NZ53 hg19 CCDS4397.1 0.02 -0.070184 CTCxTGA UNCOVERED NOVEL THOC3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253148.1 4 3.309354 KEEP 6 0 0 11 333 GG 0 0 0 - 2 60 77 0 0 6.7006 6 60 212 26 ENST00000265097.4 0.25 0.054137 FAF2 23197 __UNKNOWN__ __UNKNOWN__ 5 175936516 175936516 __UNKNOWN__ 3'UTR SNP T T C rs11027 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:175936516T>C ENST00000261942.6 + 0 3956 NM_014613.2 NP_055428.1 Q96CS3 FAF2_HUMAN Fas associated factor family member 2 NA NA lipid particle organization (GO:0034389)|negative regulation of catalytic activity (GO:0043086)|response to unfolded protein (GO:0006986) Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811) lipase binding (GO:0035473)|lipase inhibitor activity (GO:0055102)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625) breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 10 TAGATTGAGCTGAATAACCAT 0.428 NA T||| 1729 0.345248 0.0794 0.4308 5008 , , NA 20307 0.4365 NA 0.4215 False NA ,,, NA NA NA 2504 0.4714 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC015791 CCDS34296.1 5q35.2 2011-06-28 2008-07-25 2008-07-25 ENSG00000113194 ENSG00000113194 23197 UBX domain containing 24666 protein-coding gene gene with protein product expressed in T cells and eosinophils in atopic dermatitis, UBX domain protein 3B UBX domain containing 8 UBXD8 NA 10048485, 12372427 Standard NM_014613 NM_014613 NA Approved ETEA, KIAA0887, UBXN3B uc003mej.4 Q96CS3 OTTHUMG00000163228 ENST00000261942.6:c.*2565T>C chr5.hg19:g.175936516T>C NA O94963|Q8IUF2|Q9BRP2|Q9BVM7 hg19 CCDS34296.1 0.02 6.138921 AGCxGAA COVERED NOVEL FAF2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000372194.1 3 10.531596 KEEP 0 0 0 35 1123 TT 0.999999 0.999999 0 + 6 60 211 0 0 12.637519 168 60 6215 253 ENST00000261942.6 0.034483 1 CDHR2 54825 __UNKNOWN__ __UNKNOWN__ 5 176002542 176002542 __UNKNOWN__ Silent SNP C C T rs41275281 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:176002542C>T ENST00000510636.1 + 10 1078 c.804C>T c.(802-804)ggC>ggT p.G268G CDHR2_ENST00000261944.5_Silent_p.G268G|CDHR2_ENST00000506348.1_Silent_p.G268G NM_001171976.1 NP_001165447.1 Q9BYE9 CDHR2_HUMAN cadherin-related family member 2 268 Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}. NA cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308) cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1) 56 CTGTGGATGGCGACAAAGGCA 0.652 NA C||| 606 0.121006 0.118 0.085 5008 , , NA 17369 0.1597 NA 0.0706 False NA ,,, NA NA NA 2504 0.1626 NA NA NA NA 0 C , 470,3936 222.0+/-238.9 22,426,1755 102 109 107 804,804 -8.6 0 5 dbSNP_127 107 483,8117 140.8+/-197.2 10,463,3827 no coding-synonymous,coding-synonymous CDHR2 NM_001171976.1,NM_017675.4 , 32,889,5582 TT,TC,CC 5.6163,10.6673,7.3274 , 268/1311,268/1311 176002542 953,12053 2203 4300 6503 SO:0001819 synonymous_variant AB047004 CCDS34297.1 5q35.2 2011-07-01 2010-01-25 2010-01-25 ENSG00000074276 54825 Cadherins / Cadherin-related 18231 protein-coding gene gene with protein product protocadherin LKC protocadherin 24 PCDH24 NA 11082270, 12117771 Standard NM_017675 NM_001171976 NA Approved PC-LKC, FLJ20124, FLJ20383, PCLKC uc003mem.2 Q9BYE9 ENST00000510636.1:c.804C>T chr5.hg19:g.176002542C>T NA A1L3U4|A6NC80|Q9NXP8 hg19 CCDS34297.1 0.02 9.685326 TGGxGAC COVERED NOVEL CDHR2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000372201.1 4 11.435977 KEEP 0 0 0 38 1304 CC 1 1 0 + 10 60 347 0 0 20.929232 259 60 8969 398 ENST00000510636.1 0.037175 1 CDHR2 54825 __UNKNOWN__ __UNKNOWN__ 5 176002707 176002707 __UNKNOWN__ Intron SNP C C T rs3762970 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:176002707C>T ENST00000510636.1 + 11 1118 CDHR2_ENST00000261944.5_Intron|CDHR2_ENST00000506348.1_Intron NM_001171976.1 NP_001165447.1 Q9BYE9 CDHR2_HUMAN cadherin-related family member 2 NA NA cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308) cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1) 56 CCAGCTGTTCCGCCTTTCTCC 0.672 NA c||| 622 0.124201 0.1309 0.0865 5008 , , NA 17125 0.1597 NA 0.0676 False NA ,,, NA NA NA 2504 0.1636 NA NA NA NA 0 T , 534,3864 31,472,1696 16 16 16 , -5.3 0 5 dbSNP_107 16 465,8121 9,447,3837 no intron,intron CDHR2 NM_001171976.1,NM_017675.4 , 40,919,5533 TT,TC,CC 5.4158,12.1419,7.6941 , , 176002707 999,11985 2199 4293 6492 SO:0001627 intron_variant AB047004 CCDS34297.1 5q35.2 2011-07-01 2010-01-25 2010-01-25 ENSG00000074276 54825 Cadherins / Cadherin-related 18231 protein-coding gene gene with protein product protocadherin LKC protocadherin 24 PCDH24 NA 11082270, 12117771 Standard NM_017675 NM_001171976 NA Approved PC-LKC, FLJ20124, FLJ20383, PCLKC uc003mem.2 Q9BYE9 ENST00000510636.1:c.845-18C>T chr5.hg19:g.176002707C>T NA A1L3U4|A6NC80|Q9NXP8 hg19 CCDS34297.1 0.02 6.807243 TTCxGCC COVERED NOVEL CDHR2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000372201.1 2 7.221702 KEEP 0 0 0 24 793 CC 0.999909 0.999909 0 + 10 60 352 0 0 23.012993 179 60 5969 249 ENST00000510636.1 0.05291 1 NSD1 64324 __UNKNOWN__ __UNKNOWN__ 5 176637149 176637149 __UNKNOWN__ Silent SNP G G A rs3733874 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:176637149G>A ENST00000439151.2 + 5 1794 c.1749G>A c.(1747-1749)gaG>gaA p.E583E NSD1_ENST00000347982.4_Silent_p.E314E|NSD1_ENST00000354179.4_Silent_p.E314E|NSD1_ENST00000361032.4_Silent_p.E480E NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 583 NA gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351) chromosome (GO:0005694)|nucleus (GO:0005634) androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) AAGAATTTGAGACTTCAAATG 0.443 NA T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) NA NA NA NA NA NA NA NA NA Dom yes 5 5q35 64324 nuclear receptor binding SET domain protein 1 yes L 0 G , 331,4065 155.5+/-188.7 12,307,1879 64 70 68 1749,942 4.5 1 5 dbSNP_107 68 974,7624 204.2+/-247.0 64,846,3389 no coding-synonymous,coding-synonymous NSD1 NM_022455.4,NM_172349.2 , 76,1153,5268 AA,AG,GG 11.3282,7.5296,10.0431 , 583/2697,314/2428 176637149 1305,11689 2198 4299 6497 SO:0001819 synonymous_variant Familial Cancer Database Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS AK026066 CCDS4412.1, CCDS4413.1 5q35 2014-09-17 2003-03-12 ENSG00000165671 ENSG00000165671 64324 Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type 14234 protein-coding gene gene with protein product 606681 Sotos syndrome STO NA 9628876, 11896389 Standard NM_172349 NM_022455 NA Approved ARA267, FLJ22263, KMT3B uc003mfr.4 Q96L73 OTTHUMG00000130846 ENST00000439151.2:c.1749G>A chr5.hg19:g.176637149G>A NA Q96PD8|Q96RN7 hg19 CCDS4412.1 0.02 13.923046 TGAxACT COVERED NOVEL NSD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253412.2 1 21.004766 KEEP 0 1 35 82 2974 GG 1 1 0 + 11 60 392 0 0 23.190344 342 60 12897 542 ENST00000439151.2 0.031161 1 NSD1 64324 __UNKNOWN__ __UNKNOWN__ 5 176637240 176637240 __UNKNOWN__ Missense_Mutation SNP G G T rs3733875 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:176637240G>T ENST00000439151.2 + 5 1885 c.1840G>T c.(1840-1842)Gtg>Ttg p.V614L NSD1_ENST00000347982.4_Missense_Mutation_p.V345L|NSD1_ENST00000354179.4_Missense_Mutation_p.V345L|NSD1_ENST00000361032.4_Missense_Mutation_p.V511L NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 614 NA V -> L (in dbSNP:rs3733875). {ECO:0000269|PubMed:12464997}. gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351) chromosome (GO:0005694)|nucleus (GO:0005634) androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) ACGAAGCCTGGTGTGTGGTTC 0.438 NA T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) G||| 1145 0.228634 0.0749 0.2147 5008 , , NA 19570 0.5119 NA 0.1193 False NA ,,, NA NA NA 2504 0.2669 NA NA NA Dom yes 5 5q35 64324 nuclear receptor binding SET domain protein 1 yes L 0 G LEU/VAL,LEU/VAL 310,4096 151.0+/-185.0 10,290,1903 66 69 68 1840,1033 -1.3 0 5 dbSNP_107 68 982,7618 207.2+/-249.0 63,856,3381 yes missense,missense NSD1 NM_022455.4,NM_172349.2 32,32 73,1146,5284 TT,TG,GG 11.4186,7.0359,9.9339 benign,benign 614/2697,345/2428 176637240 1292,11714 2203 4300 6503 SO:0001583 missense Familial Cancer Database Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS AK026066 CCDS4412.1, CCDS4413.1 5q35 2014-09-17 2003-03-12 ENSG00000165671 ENSG00000165671 64324 Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type 14234 protein-coding gene gene with protein product 606681 Sotos syndrome STO NA 9628876, 11896389 Standard NM_172349 NM_022455 NA Approved ARA267, FLJ22263, KMT3B uc003mfr.4 Q96L73 OTTHUMG00000130846 ENST00000439151.2:c.1840G>T chr5.hg19:g.176637240G>T ENSP00000395929:p.Val614Leu NA Q96PD8|Q96RN7 hg19 CCDS4412.1 0.02 14.994271 CTGxTGT COVERED 491 0.22481684981684982 38 0.07723577235772358 70 0.19337016574585636 291 0.5087412587412588 92 0.12137203166226913 G 0.024 -1.388241 0.01185 0.070359 0.114186 ENSG00000165671 ENST00000354179;ENST00000355783;ENST00000439151;ENST00000347982;ENST00000361032 D;D;D;D 0.93019 -3.03;-3.04;-3.03;-3.15 4.89 -1.26 0.09376 . 0.569556 0.16953 N 0.192808 T 0.00012 0.0000 N 0.14661 0.345 0.80722 P 0.0 B;B;B 0.09022 0.002;0.002;0.001 B;B;B 0.13407 0.009;0.002;0.002 T 0.36138 -0.9760 8 . . . . 1.3725 0.02213 0.3691:0.2408:0.2668:0.1233 rs3733875;rs59791614;rs3733875 345;511;614 Q96L73-2;Q96L73-3;Q96L73 .;.;NSD1_HUMAN L 345;345;614;345;511 ENSP00000346111:V345L;ENSP00000395929:V614L;ENSP00000343209:V345L;ENSP00000354310:V511L . V + 1 0 NSD1 176569846 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -0.301000 0.08232 -0.383000 0.07858 -2.213000 0.00299 GTG NOVEL NSD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253412.2 5 19.563016 KEEP 0 0 0 65 2297 GG 1 1 0 + 19 60 684 0 0 45.296359 336 60 12519 490 ENST00000439151.2 0.053521 1 NSD1 64324 __UNKNOWN__ __UNKNOWN__ 5 176637576 176637576 __UNKNOWN__ Missense_Mutation SNP T T C rs28932178 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:176637576T>C ENST00000439151.2 + 5 2221 c.2176T>C c.(2176-2178)Tct>Cct p.S726P NSD1_ENST00000347982.4_Missense_Mutation_p.S457P|NSD1_ENST00000354179.4_Missense_Mutation_p.S457P|NSD1_ENST00000361032.4_Missense_Mutation_p.S623P NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 726 NA S -> P (in dbSNP:rs28932178). {ECO:0000269|PubMed:12464997, ECO:0000269|PubMed:18987736}. gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351) chromosome (GO:0005694)|nucleus (GO:0005634) androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) AACCGAGACGTCTCAGGTTAA 0.423 NA T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) T||| 1250 0.249601 0.1059 0.2233 5008 , , NA 19001 0.5119 NA 0.1441 False NA ,,, NA NA NA 2504 0.3006 NA NA NA Dom yes 5 5q35 64324 nuclear receptor binding SET domain protein 1 yes L 0 T PRO/SER,PRO/SER 452,3954 216.8+/-235.3 21,410,1772 74 75 75 2176,1369 1.3 0.3 5 dbSNP_125 75 1191,7409 241.8+/-272.0 88,1015,3197 yes missense,missense NSD1 NM_022455.4,NM_172349.2 74,74 109,1425,4969 CC,CT,TT 13.8488,10.2587,12.6326 probably-damaging,probably-damaging 726/2697,457/2428 176637576 1643,11363 2203 4300 6503 SO:0001583 missense Familial Cancer Database Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS AK026066 CCDS4412.1, CCDS4413.1 5q35 2014-09-17 2003-03-12 ENSG00000165671 ENSG00000165671 64324 Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type 14234 protein-coding gene gene with protein product 606681 Sotos syndrome STO NA 9628876, 11896389 Standard NM_172349 NM_022455 NA Approved ARA267, FLJ22263, KMT3B uc003mfr.4 Q96L73 OTTHUMG00000130846 ENST00000439151.2:c.2176T>C chr5.hg19:g.176637576T>C ENSP00000395929:p.Ser726Pro NA Q96PD8|Q96RN7 hg19 CCDS4412.1 0.02 24.391239 ACGxCTC COVERED 528 0.24175824175824176 49 0.09959349593495935 74 0.20441988950276244 292 0.5104895104895105 113 0.14907651715039577 T 8.852 0.944892 0.18356 0.102587 0.138488 ENSG00000165671 ENST00000354179;ENST00000355783;ENST00000439151;ENST00000347982;ENST00000361032 D;D;D;D 0.93547 -3.14;-3.14;-3.14;-3.24 5.1 1.28 0.21552 . 0.528179 0.19032 N 0.124511 T 0.00012 0.0000 N 0.24115 0.695 0.58432 P 1.0000000000287557E-6 D;D;D 0.76494 0.999;0.994;0.998 D;P;P 0.64776 0.929;0.865;0.852 T 0.25779 -1.0122 8 . . . . 4.1853 0.10395 0.0:0.3131:0.1764:0.5105 rs28932178;rs28932178 457;623;726 Q96L73-2;Q96L73-3;Q96L73 .;.;NSD1_HUMAN P 457;457;726;457;623 ENSP00000346111:S457P;ENSP00000395929:S726P;ENSP00000343209:S457P;ENSP00000354310:S623P . S + 1 0 NSD1 176570182 0.350000 0.24878 0.254000 0.24359 0.004000 0.04260 0.397000 0.20883 0.130000 0.18549 0.533000 0.62120 TCT NOVEL NSD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253412.2 2 30.993942 KEEP 0 0 0 103 3308 TT 1 1 0 + 21 60 774 0 0 48.074483 569 60 20159 824 ENST00000439151.2 0.035593 1 RGS14 10636 __UNKNOWN__ __UNKNOWN__ 5 176798306 176798306 __UNKNOWN__ Intron SNP G G A rs11746443 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:176798306G>A ENST00000408923.3 + 13 1524 RGS14_ENST00000506944.1_Intron NM_006480.4 NP_006471.2 O43566 RGS14_HUMAN regulator of G-protein signaling 14 NA NA cell division (GO:0051301)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitotic nuclear division (GO:0007067)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of synaptic plasticity (GO:0031914)|nucleocytoplasmic transport (GO:0006913)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neurogenesis (GO:0050769)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to oxidative stress (GO:0006979)|spindle organization (GO:0007051)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual learning (GO:0008542)|zygote asymmetric cell division (GO:0010070) cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|microtubule (GO:0005874)|nuclear body (GO:0016604)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|spindle (GO:0005819)|spindle pole (GO:0000922) GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|microtubule binding (GO:0008017)|receptor signaling complex scaffold activity (GO:0030159)|receptor signaling protein activity (GO:0005057) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1) 12 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GAGGAAGGGGGTCCAGGTGGG 0.617 NA G||| 888 0.177316 0.0499 0.2262 5008 , , NA 10267 0.1429 NA 0.2823 False NA ,,, NA NA NA 2504 0.2423 NA NA NA NSCLC(47;353 1896 28036) NA 0 G 300,3834 7,286,1774 64 78 74 http://www.ncbi.nlm.nih.gov/pubmed?term 1.5 0 5 dbSNP_120 74 2262,6138 291,1680,2229 no intron RGS14 NM_006480.4 298,1966,4003 AA,AG,GG http://www.ncbi.nlm.nih.gov/pubmed?term 26.9286,7.2569,20.4404 176798306 2562,9972 2067 4200 6267 SO:0001627 intron_variant AF037195 CCDS43405.1 5q35.3 2008-02-05 2007-08-14 ENSG00000169220 ENSG00000169220 10636 Regulators of G-protein signaling 9996 protein-coding gene gene with protein product 602513 regulator of G-protein signalling 14 NA Standard NM_006480 NM_006480 NA Approved uc003mgf.3 O43566 OTTHUMG00000163324 ENST00000408923.3:c.1337-45G>A chr5.hg19:g.176798306G>A NA O43565|Q506M1|Q6ZWA4|Q8TD62 hg19 CCDS43405.1 0.02 8.184415 GGGxTCC COVERED NOVEL RGS14-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000372676.1 2 26.180571 KEEP 0 0 0 87 2973 GG 1 1 0 + 8 60 268 0 0 15.853594 204 60 7534 378 ENST00000408923.3 0.037736 1 GRK6 2870 __UNKNOWN__ __UNKNOWN__ 5 176860293 176860293 __UNKNOWN__ Intron SNP T T C rs2287694 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:176860293T>C ENST00000393576.3 + 6 585 GRK6_ENST00000355958.5_Intron|GRK6_ENST00000528793.1_Intron|GRK6_ENST00000355472.5_Intron|GRK6_ENST00000507633.1_Intron P43250 GRK6_HUMAN G protein-coupled receptor kinase 6 NA NA regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055) membrane (GO:0016020) ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703) breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1) 25 all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGGTTCTTCATAGGCCTTGGG 0.607 NA T||| 862 0.172125 0.0091 0.1354 5008 , , NA 18361 0.3552 NA 0.0994 False NA ,,, NA NA NA 2504 0.3047 NA NA NA NA 0 T ,, 22,1362 0,22,670 61 63 62 ,, -6.1 0 5 dbSNP_100 62 345,2837 20,305,1266 no intron,intron,intron GRK6 NM_001004105.2,NM_001004106.2,NM_002082.3 ,, 20,327,1936 CC,CT,TT 10.8422,1.5896,8.0377 ,, ,, 176860293 367,4199 692 1591 2283 SO:0001627 intron_variant CCDS34303.1, CCDS43406.1, CCDS47348.1 5q35 2011-01-14 2004-02-04 2004-02-06 ENSG00000198055 ENSG00000198055 2870 4545 protein-coding gene gene with protein product 600869 GPRK6 NA 8415712 Standard NM_002082 NM_002082 NA Approved uc021yiu.1 P43250 OTTHUMG00000163401 ENST00000393576.3:c.533+53T>C chr5.hg19:g.176860293T>C NA O60541|Q13652 hg19 0.02 13.518253 TCAxAGG COVERED NOVEL GRK6-011 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000387002.1 1 30.986748 KEEP 0 0 0 103 3059 TT 1 1 0 + 12 60 409 0 0 24.357335 331 60 11749 575 ENST00000393576.3 0.034985 1 DOK3 79930 __UNKNOWN__ __UNKNOWN__ 5 176929974 176929974 __UNKNOWN__ 3'UTR SNP G G A rs2544814 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:176929974G>A ENST00000312943.6 - 0 1225 RP11-1334A24.6_ENST00000506025.1_RNA|DOK3_ENST00000377112.4_3'UTR NM_001144875.1 NP_001138347.1 Q7L591 DOK3_HUMAN docking protein 3 NA NA Ras protein signal transduction (GO:0007265) cytoplasm (GO:0005737)|plasma membrane (GO:0005886) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7) 13 all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191) tgagctggaaggaggtggcgg 0.577 NA G||| 2124 0.424121 0.3971 0.5274 5008 , , NA 21482 0.3502 NA 0.4881 False NA ,,, NA NA NA 2504 0.3978 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK026223 CCDS4426.1, CCDS47349.1, CCDS47350.1 5q35 2008-02-05 ENSG00000146094 ENSG00000146094 79930 24583 protein-coding gene gene with protein product 611435 NA 10733577, 12595900 Standard NM_024872 NM_024872 NA Approved FLJ22570 uc003mhk.3 Q7L591 OTTHUMG00000130850 ENST00000312943.6:c.*72C>T chr5.hg19:g.176929974G>A NA E9PAT0|H7BXS0|Q8N864|Q9BQB3|Q9H666 hg19 CCDS47350.1 0.02 6.434918 GAAxGAG COVERED NOVEL DOK3-002 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000373142.1 1 10.233531 KEEP 0 0 0 34 1235 GG 0.999998 0.999998 0 - 8 60 283 0 0 17.615697 188 60 7051 266 ENST00000312943.6 0.040816 1 FAM193B 54540 __UNKNOWN__ __UNKNOWN__ 5 176959296 176959296 __UNKNOWN__ Intron SNP T T G rs2246566 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:176959296T>G ENST00000514747.1 - 5 1324 FAM193B_ENST00000329540.5_Intron|FAM193B_ENST00000508298.1_Intron|FAM193B_ENST00000443375.2_Intron NM_001190946.1 NP_001177875.1 Q96PV7 F193B_HUMAN family with sequence similarity 193, member B NA NA cytoplasm (GO:0005737)|nucleus (GO:0005634) kidney(1)|large_intestine(3) 4 gctgtgaggatcaagcgagca 0.493 NA T||| 2145 0.428315 0.1581 0.5692 5008 , , NA 22044 0.628 NA 0.4791 False NA ,,, NA NA NA 2504 0.4356 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS54954.1 5q35 2010-02-17 ENSG00000146067 ENSG00000146067 54540 25524 protein-coding gene gene with protein product 615813 NA 11572484 Standard NM_019057 NR_024019 NA Approved KIAA1931, FLJ10404 uc003mhu.3 Q96PV7 OTTHUMG00000163396 ENST00000514747.1:c.1275+147A>C chr5.hg19:g.176959296T>G NA E9PET5|Q9NW00 hg19 CCDS54954.1 0.02 6.50275 GGAxCAA COVERED NOVEL FAM193B-003 NOVEL not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000373121.1 1 5.114827 KEEP 0 0 0 17 536 TT 0.999366 0.999366 0 - 12 60 412 0 0 28.081383 166 60 5928 214 ENST00000514747.1 0.067416 1 B4GALT7 11285 __UNKNOWN__ __UNKNOWN__ 5 177035964 177035964 __UNKNOWN__ Silent SNP T T C rs729459 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:177035964T>C ENST00000029410.5 + 5 888 c.777T>C c.(775-777)caT>caC p.H259H NM_007255.2 NP_009186.1 Q9UBV7 B4GT7_HUMAN xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 259 UDP-alpha-D-galactose binding. NA carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|chondroitin sulfate metabolic process (GO:0030204)|extracellular fibril organization (GO:0043206)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of fibroblast proliferation (GO:0048147)|protein N-linked glycosylation (GO:0006487)|proteoglycan metabolic process (GO:0006029)|small molecule metabolic process (GO:0044281) Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021) beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|manganese ion binding (GO:0030145)|xylosylprotein 4-beta-galactosyltransferase activity (GO:0046525) endometrium(2)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1) 7 all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCCACCTGCATGACCCAGCCT 0.602 NA t||| 3030 0.605032 0.5893 0.6153 5008 , , NA 19107 0.7937 NA 0.5417 False NA ,,, NA NA NA 2504 0.4898 NA NA NA NA 0 C 2712,1694 651.5+/-399.2 830,1052,321 69 66 67 777 -5.6 0.9 5 dbSNP_86 67 4764,3836 610.1+/-395.6 1323,2118,859 no coding-synonymous B4GALT7 NM_007255.2 2153,3170,1180 CC,CT,TT 44.6047,38.4476,42.5188 259/328 177035964 7476,5530 2203 4300 6503 SO:0001819 synonymous_variant AB028600 CCDS4429.1 5q35.1-q35.3 2013-02-19 2012-07-18 ENSG00000027847 ENSG00000027847 11285 Beta 4-glycosyltransferases 930 protein-coding gene gene with protein product galactosyltransferase I 604327 NA 10438455, 10473568 Standard NM_007255 NM_007255 NA Approved XGALT-1, beta4Gal-T7 uc003mhy.3 Q9UBV7 OTTHUMG00000130851 ENST00000029410.5:c.777T>C chr5.hg19:g.177035964T>C NA B3KN39|Q9UHN2 hg19 CCDS4429.1 0.02 13.707789 GCAxGAC COVERED NOVEL B4GALT7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253421.1 2 23.768584 KEEP 0 0 0 79 2422 TT 1 1 0 + 17 60 612 0 0 40.71448 293 60 10697 517 ENST00000029410.5 0.054839 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 5 177058696 177058696 __UNKNOWN__ IGR SNP G G A rs3749822 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:177058696G>A NA NA RP11-1277A3.1 (11941 upstream) : RP11-1277A3.2 (379 downstream) NA NA NA CCTGTCTCCTGGTAAGTGAGG 0.537 NA g||| 669 0.133586 0.0144 0.1744 5008 , , NA 23126 0.3363 NA 0.0885 False NA ,,, NA NA NA 2504 0.1033 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr5.hg19:g.177058696G>A NA hg19 0.02 11.54745 CCTxGTA COVERED NOVEL 0 3 12.038582 KEEP 59 0 0 40 1377 GG 0.999869 0.999869 0 9 60 348 0 0 21.763825 275 60 10201 406 0.03169 1 PROP1 5626 __UNKNOWN__ __UNKNOWN__ 5 177419356 177419356 __UNKNOWN__ 3'UTR SNP C C T rs4604209 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:177419356C>T ENST00000308304.2 - 0 1343 NM_006261.4 NP_006252 O75360 PROP1_HUMAN PROP paired-like homeobox 1 NA NA blood vessel development (GO:0001568)|canonical Wnt signaling pathway (GO:0060070)|cell migration (GO:0016477)|central nervous system development (GO:0007417)|dorsal/ventral pattern formation (GO:0009953)|hypophysis morphogenesis (GO:0048850)|hypothalamus cell differentiation (GO:0021979)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatotropin secreting cell differentiation (GO:0060126) nucleus (GO:0005634)|transcription factor complex (GO:0005667) chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565) endometrium(1)|large_intestine(2)|lung(9)|stomach(1) 13 all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TGAAATCAGCCAGAAAGAGCT 0.458 NA C||| 1135 0.226637 0.1967 0.1628 5008 , , NA 14514 0.3403 NA 0.2604 False NA ,,, NA NA NA 2504 0.1605 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF076215 CCDS4430.1 5q35.3 2011-06-20 2007-07-12 ENSG00000175325 ENSG00000175325 5626 Homeoboxes / PRD class 9455 protein-coding gene gene with protein product 601538 prophet of Pit1, paired-like homeodomain transcription factor NA 9462743 Standard NM_006261 NM_006261 NA Approved uc003mif.1 O75360 OTTHUMG00000130887 ENST00000308304.2:c.*354G>A chr5.hg19:g.177419356C>T NA hg19 CCDS4430.1 0.02 7.09614 AGCxAGA COVERED NOVEL PROP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253472.1 2 8.125935 KEEP 0 0 0 27 946 CC 0.999988 0.999988 0 - 9 60 347 0 0 23.264661 181 60 6695 259 ENST00000308304.2 0.047368 1 PROP1 5626 __UNKNOWN__ __UNKNOWN__ 5 177422823 177422823 __UNKNOWN__ Intron SNP C C T rs4072924 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:177422823C>T ENST00000308304.2 - 1 418 NM_006261.4 NP_006252 O75360 PROP1_HUMAN PROP paired-like homeobox 1 NA NA blood vessel development (GO:0001568)|canonical Wnt signaling pathway (GO:0060070)|cell migration (GO:0016477)|central nervous system development (GO:0007417)|dorsal/ventral pattern formation (GO:0009953)|hypophysis morphogenesis (GO:0048850)|hypothalamus cell differentiation (GO:0021979)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatotropin secreting cell differentiation (GO:0060126) nucleus (GO:0005634)|transcription factor complex (GO:0005667) chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565) endometrium(1)|large_intestine(2)|lung(9)|stomach(1) 13 all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GACGGTCACTCACCCACCGTG 0.617 NA C||| 2537 0.506589 0.5825 0.4957 5008 , , NA 14801 0.4415 NA 0.5278 False NA ,,, NA NA NA 2504 0.4571 NA NA NA NA 0 C 2512,1894 712,1088,403 60 57 58 0.5 1 5 dbSNP_108 58 4748,3852 1335,2078,887 no intron PROP1 NM_006261.4 2047,3166,1290 TT,TC,CC 44.7907,42.9868,44.1796 177422823 7260,5746 2203 4300 6503 SO:0001627 intron_variant AF076215 CCDS4430.1 5q35.3 2011-06-20 2007-07-12 ENSG00000175325 ENSG00000175325 5626 Homeoboxes / PRD class 9455 protein-coding gene gene with protein product 601538 prophet of Pit1, paired-like homeodomain transcription factor NA 9462743 Standard NM_006261 NM_006261 NA Approved uc003mif.1 O75360 OTTHUMG00000130887 ENST00000308304.2:c.109+2G>A chr5.hg19:g.177422823C>T NA hg19 CCDS4430.1 0.02 5.964755 ACTxACC COVERED NOVEL PROP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253472.1 2 2.943565 KEEP 0 1 29 20 692 CC 0.999869 0.999869 0 - 6 60 216 0 0 13.17999 165 60 6147 211 ENST00000308304.2 0.035088 1 N4BP3 23138 __UNKNOWN__ __UNKNOWN__ 5 177549802 177549802 __UNKNOWN__ 3'UTR SNP C C G rs67080522 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:177549802C>G ENST00000274605.5 + 0 2794 NM_015111.1 NP_055926.1 O15049 N4BP3_HUMAN NEDD4 binding protein 3 NA NA cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020) breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1) 9 all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCTCCTGTCTCCCTCCCTCCC 0.597 NA C||| 842 0.168131 0.0106 0.1254 5008 , , NA 17316 0.3085 NA 0.1948 False NA ,,, NA NA NA 2504 0.2393 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB002339 CCDS34307.1 5q35.3 2012-05-17 ENSG00000145911 23138 29852 protein-coding gene gene with protein product NA 9205841, 11717310 Standard NM_015111 XM_006714834 NA Approved LZTS4 uc003mik.1 O15049 ENST00000274605.5:c.*800C>G chr5.hg19:g.177549802C>G NA B4DIL3|D3DWP3|Q6ZSQ6|Q7Z6I3 hg19 CCDS34307.1 0.02 9.128479 TCTxCCT COVERED NOVEL N4BP3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000373552.2 1 12.339304 KEEP 0 0 0 41 1411 CC 1 1 0 + 7 60 264 0 0 15.984433 235 60 8815 337 ENST00000274605.5 0.028926 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 5 177613168 177613168 __UNKNOWN__ IGR SNP C C T rs13184406 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:177613168C>T NA NA NHP2 (32200 upstream) : HNRNPAB (18339 downstream) NA NA NA CCCTACCTCACGGTCTTGTTC 0.438 NA C||| 2463 0.491813 0.1899 0.5476 5008 , , NA 19208 0.4871 NA 0.7197 False NA ,,, NA NA NA 2504 0.6309 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr5.hg19:g.177613168C>T NA hg19 0.02 19.88693 TCAxGGT COVERED NOVEL 0 1 13.542563 KEEP 0 0 0 45 1559 CC 1 1 0 15 60 556 0 0 33.981761 451 60 15071 585 0.032189 1 PHYKPL 85007 __UNKNOWN__ __UNKNOWN__ 5 177659463 177659463 __UNKNOWN__ Intron SNP C C A rs202216488|rs138665724 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:177659463C>A ENST00000476170.2 - 1 80 PHYKPL_ENST00000308158.5_Intron Q8IUZ5 AT2L2_HUMAN 5-phosphohydroxy-L-lysine phospho-lyase NA NA mitochondrion (GO:0005739) lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483) NA L-Alanine(DB00160) CAgccccgcgccccccgccgc 0.766 NA C||| 900 0.179712 0.4516 0.0807 5008 , , NA 8112 0.0873 NA 0.0755 False NA ,,, NA NA NA 2504 0.0849 NA NA NA NA 0 1 1 1 NA NA 5 NA 177659463 702 1422 2124 SO:0001627 intron_variant BC037567 CCDS4434.1 5q35.3 2013-06-12 2013-06-12 2013-06-12 ENSG00000175309 ENSG00000175309 85007 4.2.3.134 28249 protein-coding gene gene with protein product 5-phosphonooxy-L-lysine phospho-lyase 614683 alanine-glyoxylate aminotransferase 2-like 2 AGXT2L2 NA 22241472 Standard NM_032921 NM_153373 NA Approved MGC15875 uc003miz.3 Q8IUZ5 OTTHUMG00000130892 ENST00000476170.2:c.59+29G>T chr5.hg19:g.177659463C>A NA A8K7P6|B3KN36|D3DWP9|Q8WYS6|Q96HW8 hg19 0.02 -0.365691 GCGxCCC COVERED NOVEL PHYKPL-010 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000314502.2 0 6.315515 KEEP 0 0 0 21 722 CC 0.999869 0.899196 0 - 3 60 100 0 0 6.75133 39 60 1341 80 ENST00000476170.2 0.071429 0.899314 PHYKPL 85007 __UNKNOWN__ __UNKNOWN__ 5 177659519 177659519 __UNKNOWN__ Silent SNP C C G rs116735771 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:177659519C>G ENST00000476170.2 - 1 53 c.33G>C c.(31-33)acG>acC p.T11T PHYKPL_ENST00000308158.5_Silent_p.T11T Q8IUZ5 AT2L2_HUMAN 5-phosphohydroxy-L-lysine phospho-lyase 11 NA mitochondrion (GO:0005739) lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483) NA L-Alanine(DB00160) TCAGGGCCAGCGTGTCGGCCT 0.776 NA G||| 765 0.152756 0.3419 0.0663 5008 , , NA 8862 0.1052 NA 0.0755 False NA ,,, NA NA NA 2504 0.0869 NA NA NA NA 0 G 758,2778 67,624,1077 3 3 3 33 -4.8 0.9 5 dbSNP_132 3 393,6805 10,373,3216 no coding-synonymous AGXT2L2 NM_153373.2 77,997,4293 GG,GC,CC 5.4598,21.4367,10.7229 11/451 177659519 1151,9583 1768 3599 5367 SO:0001819 synonymous_variant BC037567 CCDS4434.1 5q35.3 2013-06-12 2013-06-12 2013-06-12 ENSG00000175309 ENSG00000175309 85007 4.2.3.134 28249 protein-coding gene gene with protein product 5-phosphonooxy-L-lysine phospho-lyase 614683 alanine-glyoxylate aminotransferase 2-like 2 AGXT2L2 NA 22241472 Standard NM_032921 NM_153373 NA Approved MGC15875 uc003miz.3 Q8IUZ5 OTTHUMG00000130892 ENST00000476170.2:c.33G>C chr5.hg19:g.177659519C>G NA A8K7P6|B3KN36|D3DWP9|Q8WYS6|Q96HW8 hg19 0.02 2.262626 CAGxGTG COVERED NOVEL PHYKPL-010 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000314502.2 0 13.242165 KEEP 0 0 0 44 1498 CC 1 0.987943 0 - 4 60 155 0 0 11.032168 56 60 1949 131 ENST00000476170.2 0.066667 0.987943 CLK4 57396 __UNKNOWN__ __UNKNOWN__ 5 178049444 178049444 __UNKNOWN__ Intron SNP C C G rs34183525 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:178049444C>G ENST00000316308.4 - 2 330 CLK4_ENST00000520957.1_3'UTR NM_020666.2 NP_065717.1 Q9HAZ1 CLK4_HUMAN CDC-like kinase 4 NA NA protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484) nucleus (GO:0005634) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713) breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2) 21 all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918) all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.235) ATCTGGTAAACAGTCCCAATG 0.363 NA C||| 1307 0.260982 0.0469 0.3444 5008 , , NA 16522 0.3433 NA 0.326 False NA ,,, NA NA NA 2504 0.3395 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF294429 CCDS4437.1 5q35 2008-05-02 ENSG00000113240 ENSG00000113240 57396 CDC-like kinases 13659 protein-coding gene gene with protein product 607969 NA 11170754 Standard NM_020666 NA Approved uc003mjf.1 Q9HAZ1 OTTHUMG00000130893 ENST00000316308.4:c.161+812G>C chr5.hg19:g.178049444C>G NA hg19 CCDS4437.1 0.02 21.587546 AAAxAGT COVERED NOVEL CLK4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253479.2 5 47.841678 KEEP 0 0 0 159 5717 CC 1 1 0 - 16 60 610 0 0 38.573267 438 60 16946 783 ENST00000316308.4 0.035242 1 ZNF354A 6940 __UNKNOWN__ __UNKNOWN__ 5 178154250 178154250 __UNKNOWN__ Intron SNP A A G rs35287913 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:178154250A>G ENST00000335815.2 - 3 231 NM_005649.2 NP_005640.2 O60765 Z354A_HUMAN zinc finger protein 354A NA NA regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2) 19 all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536) all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.185) AAGGTTCCAGATCATTCGTTT 0.493 NA A||| 1101 0.219848 0.0741 0.2219 5008 , , NA 18409 0.1944 NA 0.2992 False NA ,,, NA NA NA 2504 0.3599 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF116030 CCDS4438.1 5q35.3 2013-01-08 2001-11-23 ENSG00000169131 ENSG00000169131 6940 Zinc fingers, C2H2-type, - 11628 protein-coding gene gene with protein product 602444 TCF17 NA 9465904 Standard NM_005649 NM_005649 NA Approved KID-1, EZNF, HKL1, KID1 uc003mjj.3 O60765 OTTHUMG00000130895 ENST00000335815.2:c.34-124T>C chr5.hg19:g.178154250A>G NA Q9UNJ8 hg19 CCDS4438.1 0.02 4.948291 CAGxTCA COVERED NOVEL ZNF354A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253481.1 0 2.405422 KEEP 2 0 0 8 227 AA 0.99257 0.992568 0 - 10 40 393 0 0 29.864514 92 60 3299 129 ENST00000335815.2 0.098039 0.999998 AACSP1 729522 __UNKNOWN__ __UNKNOWN__ 5 178214019 178214019 __UNKNOWN__ RNA SNP A A G rs78803472 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:178214019A>G ENST00000503486.2 - 0 647 NR_024035.1 acetoacetyl-CoA synthetase pseudogene 1 NA NA NA GATGGATTTAACTGCCTTGAT 0.502 NA A||| 214 0.0427316 0.0008 0.0317 5008 , , NA 18916 0.1667 NA 0.0099 False NA ,,, NA NA NA 2504 0.0133 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA 5q35 2010-09-29 2010-09-29 2010-09-29 ENSG00000250420 ENSG00000250420 729522 18226 pseudogene pseudogene acetoacetyl-CoA synthetase-like AACSL NA Standard NR_024035 NR_024035 NA Approved uc011dgl.2 OTTHUMG00000163584 ENST00000503486.2: chr5.hg19:g.178214019A>G NA hg19 0.02 1.611411 TTAxCTG COVERED NOVEL AACSP1-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000374392.2 1 4.813952 KEEP 0 0 0 16 487 AA 0.997832 0.997794 0 - 4 60 135 0 0 8.125573 96 60 3370 134 ENST00000503486.2 0.04 0.999962 ADAMTS2 9509 __UNKNOWN__ __UNKNOWN__ 5 178553185 178553185 __UNKNOWN__ Intron SNP G G A rs2303643 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:178553185G>A ENST00000251582.7 - 18 2719 NM_014244.4 NP_055059.2 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 2 NA NA collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283) extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578) metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270) breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) CTGCCCGAGGGTGCAAGGAGG 0.662 NA G||| 2541 0.507388 0.8018 0.3487 5008 , , NA 17142 0.5377 NA 0.335 False NA ,,, NA NA NA 2504 0.3681 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ003125 CCDS4444.1, CCDS34311.1 5q23-q24 2008-07-18 2005-08-19 ENSG00000087116 ENSG00000087116 9509 ADAM metallopeptidases with thrombospondin type 1 motif 218 protein-coding gene gene with protein product procollagen I N-proteinase, procollagen N-endopeptidase 604539 a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2 NA 10094461, 15373769 Standard NM_014244 NM_014244 NA Approved ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI uc003mjw.3 O95450 OTTHUMG00000130915 ENST00000251582.7:c.2618-54C>T chr5.hg19:g.178553185G>A NA hg19 CCDS4444.1 0.02 6.668473 AGGxTGC COVERED NOVEL ADAMTS2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253507.1 1 3.310822 KEEP 0 0 0 11 391 GG 0.993072 0.993072 0 - 7 60 259 0 0 16.778856 152 60 5654 194 ENST00000251582.7 0.044025 1 CANX 821 __UNKNOWN__ __UNKNOWN__ 5 179126090 179126090 __UNKNOWN__ 5'UTR SNP C C T rs1134924 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:179126090C>T ENST00000247461.4 + 0 184 CANX_ENST00000512607.2_5'UTR|CANX_ENST00000452673.2_Intron|CANX_ENST00000504734.1_Intron|CANX_ENST00000415618.2_Intron NM_001746.3 NP_001737.1 P27824 CALX_HUMAN calnexin NA NA aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein folding (GO:0061077)|clathrin-mediated endocytosis (GO:0072583)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein secretion (GO:0009306)|synaptic vesicle endocytosis (GO:0048488) axon (GO:0030424)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ribosome (GO:0005840) calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|poly(A) RNA binding (GO:0044822) breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3) 22 all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218) all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Antihemophilic Factor(DB00025)|Tenecteplase(DB00031) CCCGCGGTCCCCGGGAGGCTA 0.746 NA C||| 2399 0.479034 0.177 0.5548 5008 , , NA 10838 0.6339 NA 0.496 False NA ,,, NA NA NA 2504 0.6564 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant L18887 CCDS4447.1 5q35 2008-07-18 ENSG00000127022 ENSG00000127022 821 1473 protein-coding gene gene with protein product major histocompatibility complex class I antigen-binding protein p88 114217 NA 1326756, 8136357 Standard NM_001024649 NM_001746 NA Approved CNX, IP90, P90 uc003mkl.3 P27824 OTTHUMG00000130910 ENST00000247461.4:c.-17C>T chr5.hg19:g.179126090C>T NA B2R5V8|B4DGP8|B4E2T8|D3DWQ3|D6R9K3 hg19 CCDS4447.1 0.02 2.176906 TCCxCGG COVERED 1026 0.4697802197802198 109 0.22154471544715448 193 0.5331491712707183 345 0.6031468531468531 379 0.5 C 11.08 1.533960 0.27387 . . ENSG00000127022 ENST00000510810 T 0.71934 -0.61 3.03 1.2 0.21068 . . . . . T 0.00012 0.0000 . . . 0.51233 P 8.699999999994823E-5 . . . . . . T 0.45381 -0.9265 5 0.52906 T 0.07 . 4.2223 0.10563 0.0:0.6231:0.2404:0.1365 rs11749335 . . . S 22 ENSP00000424740:P22S ENSP00000424740:P22S P + 1 0 CANX 179058696 0.000000 0.05858 0.001000 0.08648 0.059000 0.15707 -0.367000 0.07553 0.319000 0.23209 0.511000 0.50034 CCG NOVEL CANX-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253500.2 1 11.541706 KEEP 0 5 161 95 3304 CC 1 0.999317 0 + 8 60 281 0 0 20.589937 73 60 2744 262 ENST00000247461.4 0.098765 0.999317 CANX 821 __UNKNOWN__ __UNKNOWN__ 5 179137436 179137436 __UNKNOWN__ Intron SNP C C T rs13174472 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:179137436C>T ENST00000247461.4 + 7 921 CANX_ENST00000512607.2_Intron|CANX_ENST00000503126.1_Intron|CANX_ENST00000452673.2_Intron|CANX_ENST00000504734.1_Intron|CANX_ENST00000415618.2_Intron NM_001746.3 NP_001737.1 P27824 CALX_HUMAN calnexin NA NA aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein folding (GO:0061077)|clathrin-mediated endocytosis (GO:0072583)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein secretion (GO:0009306)|synaptic vesicle endocytosis (GO:0048488) axon (GO:0030424)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ribosome (GO:0005840) calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|poly(A) RNA binding (GO:0044822) breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3) 22 all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218) all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Antihemophilic Factor(DB00025)|Tenecteplase(DB00031) aggctgggcgcggtggctcac 0.537 NA C||| 2381 0.475439 0.1725 0.5562 5008 , , NA 11755 0.6161 NA 0.502 False NA ,,, NA NA NA 2504 0.6554 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L18887 CCDS4447.1 5q35 2008-07-18 ENSG00000127022 ENSG00000127022 821 1473 protein-coding gene gene with protein product major histocompatibility complex class I antigen-binding protein p88 114217 NA 1326756, 8136357 Standard NM_001024649 NM_001746 NA Approved CNX, IP90, P90 uc003mkl.3 P27824 OTTHUMG00000130910 ENST00000247461.4:c.721+370C>T chr5.hg19:g.179137436C>T NA B2R5V8|B4DGP8|B4E2T8|D3DWQ3|D6R9K3 hg19 CCDS4447.1 0.02 -0.035092 GCGxGGT UNCOVERED NOVEL CANX-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253500.2 3 2.662473 KEEP 1 0 0 9 263 CC 0.99257 0.019833 0 + 2 60 72 0 0 6.950082 2 60 69 19 ENST00000247461.4 0.5 0.019982 SQSTM1 8878 __UNKNOWN__ __UNKNOWN__ 5 179236990 179236990 __UNKNOWN__ Intron SNP T T G rs13157764 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:179236990T>G ENST00000506690.1 + 1 1104 SQSTM1_ENST00000376929.3_Intron Q13501 SQSTM_HUMAN sequestosome 1 NA NA apoptotic signaling pathway (GO:0097190)|autophagy (GO:0006914)|cell differentiation (GO:0030154)|endosomal transport (GO:0016197)|immune system process (GO:0002376)|intracellular signal transduction (GO:0035556)|macroautophagy (GO:0016236)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein heterooligomerization (GO:0051291)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of Ras protein signal transduction (GO:0046578)|response to stress (GO:0006950)|ubiquitin-dependent protein catabolic process (GO:0006511) aggresome (GO:0016235)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|lysosome (GO:0005764)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|pre-autophagosomal structure (GO:0000407) identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|receptor tyrosine kinase binding (GO:0030971)|SH2 domain binding (GO:0042169)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270) SQSTM1/ALK(2) NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1) 13 all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) caccatgttgtccaggctggt 0.552 NA -||| 4097 0.818091 0.798 0.8458 5008 , , NA 10372 0.753 NA 0.8608 False NA ,,, NA NA NA 2504 0.8487 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U46751 CCDS34317.1, CCDS47355.1 5q35 2008-02-05 2004-04-15 ENSG00000161011 ENSG00000161011 8878 11280 protein-coding gene gene with protein product 601530 Paget disease of bone 3, oxidative stress induced like PDB3, OSIL NA 8650207, 8551575 Standard NM_003900 NA Approved p62, p60, p62B, A170 uc003mkw.4 Q13501 OTTHUMG00000150643 ENST00000506690.1:c.1104+1563T>G chr5.hg19:g.179236990T>G NA A6NFN7|B2R661|B3KUW5|Q13446|Q9BUV7|Q9BVS6|Q9UEU1 hg19 0.02 -0.043866 TTGxCCA UNCOVERED NOVEL SQSTM1-010 KNOWN basic processed_transcript NA protein_coding OTTHUMT00000372423.2 1 2.406052 KEEP 0 0 0 8 238 TT 0.99257 0.023895 0 + 4 60 145 0 0 15.321711 1 60 34 15 ENST00000506690.1 0.8 0.024074 TBC1D9B 23061 __UNKNOWN__ __UNKNOWN__ 5 179289659 179289659 __UNKNOWN__ 3'UTR SNP G G A rs13936 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:179289659G>A ENST00000356834.3 - 0 4579 TBC1D9B_ENST00000518085.1_5'UTR|TBC1D9B_ENST00000355235.3_3'UTR|TBC1D9B_ENST00000519746.1_3'UTR|TBC1D9B_ENST00000444477.2_3'UTR NM_198868.2 NP_942568.2 Q66K14 TBC9B_HUMAN TBC1 domain family, member 9B (with GRAM domain) NA NA integral component of membrane (GO:0016021) calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 28 all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ACACAGCCAGGGCCCCATACT 0.542 NA G||| 997 0.199081 0.0038 0.2738 5008 , , NA 19524 0.3819 NA 0.0855 False NA ,,, NA NA NA 2504 0.3384 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB014576 CCDS4450.1, CCDS43408.1 5q35.3 2013-01-10 ENSG00000197226 ENSG00000197226 23061 EF-hand domain containing 29097 protein-coding gene gene with protein product NA 9734811 Standard NM_015043 NM_198868 NA Approved KIAA0676 uc003mlh.3 Q66K14 OTTHUMG00000130911 ENST00000356834.3:c.*789C>T chr5.hg19:g.179289659G>A NA D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49 hg19 CCDS43408.1 0.02 13.955618 CAGxGCC COVERED NOVEL TBC1D9B-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000253501.3 1 17.757735 KEEP 0 0 0 59 2093 GG 1 1 0 - 14 60 527 0 0 34.501111 302 60 10983 454 ENST00000356834.3 0.044304 1 MAPK9 5601 __UNKNOWN__ __UNKNOWN__ 5 179661692 179661692 __UNKNOWN__ 3'UTR SNP C C T rs13435 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:179661692C>T ENST00000452135.2 - 0 3265 MAPK9_ENST00000343111.6_3'UTR|MAPK9_ENST00000455781.1_3'UTR|MAPK9_ENST00000393360.3_3'UTR P45984 MK09_HUMAN mitogen-activated protein kinase 9 NA NA cellular response to growth factor stimulus (GO:0071363)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV (GO:0034644)|central nervous system development (GO:0007417)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neuron projection development (GO:0031175)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell morphogenesis involved in differentiation (GO:0010770)|positive regulation of chemokine production (GO:0032722)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|protein targeting to mitochondrion (GO:0006626)|regulation of JNK cascade (GO:0046328)|regulation of protein ubiquitination (GO:0031396)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|release of cytochrome c from mitochondria (GO:0001836)|response to amine (GO:0014075)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666) cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654) ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|JUN kinase activity (GO:0004705)|transcription factor binding (GO:0008134) central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TAGGTGTTTCCGCCTCAATCC 0.279 NA C||| 2244 0.448083 0.292 0.4798 5008 , , NA 17716 0.7609 NA 0.4324 False NA ,,, NA NA NA 2504 0.3303 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U09759 CCDS4453.1, CCDS4454.1, CCDS43409.1, CCDS43410.1, CCDS47356.1 5q35 2011-06-09 ENSG00000050748 ENSG00000050748 5601 2.7.11.1 Mitogen-activated protein kinase cascade / Kinases 6886 protein-coding gene gene with protein product Jun kinase 602896 PRKM9 NA 8001819 Standard NM_002752 NA Approved JNK2, p54a, SAPK uc003mls.4 P45984 OTTHUMG00000130934 ENST00000452135.2:c.*1692G>A chr5.hg19:g.179661692C>T NA A8K0S3|B5BU66|B5M0B4|D3DWQ8|D3DWQ9|Q15708|Q15710|Q15711|Q8N5C5 hg19 CCDS4453.1 0.02 4.267785 TTCxGCC COVERED NOVEL MAPK9-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000253530.3 1 5.41727 KEEP 0 0 0 18 609 CC 0.999859 0.999856 0 - 6 60 220 0 0 14.637264 109 60 3720 159 ENST00000452135.2 0.052174 0.999997 MAPK9 5601 __UNKNOWN__ __UNKNOWN__ 5 179662722 179662722 __UNKNOWN__ 3'UTR SNP C C A rs4634313 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:179662722C>A ENST00000452135.2 - 0 2235 MAPK9_ENST00000343111.6_3'UTR|MAPK9_ENST00000455781.1_3'UTR|MAPK9_ENST00000393360.3_3'UTR P45984 MK09_HUMAN mitogen-activated protein kinase 9 NA NA cellular response to growth factor stimulus (GO:0071363)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV (GO:0034644)|central nervous system development (GO:0007417)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neuron projection development (GO:0031175)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell morphogenesis involved in differentiation (GO:0010770)|positive regulation of chemokine production (GO:0032722)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|protein targeting to mitochondrion (GO:0006626)|regulation of JNK cascade (GO:0046328)|regulation of protein ubiquitination (GO:0031396)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|release of cytochrome c from mitochondria (GO:0001836)|response to amine (GO:0014075)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666) cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654) ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|JUN kinase activity (GO:0004705)|transcription factor binding (GO:0008134) central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AACAAGATGTCCACATAAGTG 0.313 NA C||| 2242 0.447684 0.292 0.4798 5008 , , NA 17024 0.7599 NA 0.4324 False NA ,,, NA NA NA 2504 0.3292 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U09759 CCDS4453.1, CCDS4454.1, CCDS43409.1, CCDS43410.1, CCDS47356.1 5q35 2011-06-09 ENSG00000050748 ENSG00000050748 5601 2.7.11.1 Mitogen-activated protein kinase cascade / Kinases 6886 protein-coding gene gene with protein product Jun kinase 602896 PRKM9 NA 8001819 Standard NM_002752 NA Approved JNK2, p54a, SAPK uc003mls.4 P45984 OTTHUMG00000130934 ENST00000452135.2:c.*662G>T chr5.hg19:g.179662722C>A NA A8K0S3|B5BU66|B5M0B4|D3DWQ8|D3DWQ9|Q15708|Q15710|Q15711|Q8N5C5 hg19 CCDS4453.1 0.02 3.749319 TGTxCAC COVERED NOVEL MAPK9-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000253530.3 1 5.186506 KEEP 0 2 62 39 1387 CC 1 1 0 - 7 60 245 0 0 15.778332 133 60 4935 234 ENST00000452135.2 0.05 1 CNOT6 57472 __UNKNOWN__ __UNKNOWN__ 5 179980302 179980302 __UNKNOWN__ Intron SNP T T A rs10516143 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:179980302T>A ENST00000393356.1 + 6 723 CNOT6_ENST00000502447.1_Intron|CNOT6_ENST00000261951.4_Intron Q9ULM6 CNOT6_HUMAN CCR4-NOT transcription complex, subunit 6 NA NA exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of ligand-dependent nuclear receptor transcription coactivator activity (GO:2000327)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351) CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634) exoribonuclease activity (GO:0004532)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723) central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1) 23 all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) OV - Ovarian serous cystadenocarcinoma(192;0.023) CTTAGGTGCTTATGTTCCTAG 0.299 NA T||| 1712 0.341853 0.2564 0.3631 5008 , , NA 18176 0.2133 NA 0.5189 False NA ,,, NA NA NA 2504 0.3926 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB033020 CCDS4455.1 5q35.3 2014-06-17 ENSG00000113300 ENSG00000113300 57472 14099 protein-coding gene gene with protein product 608951 NA 11889047 Standard NM_015455 XM_005265953 NA Approved CCR4, KIAA1194, Ccr4a uc003mlx.3 Q9ULM6 OTTHUMG00000130935 ENST00000393356.1:c.300-84T>A chr5.hg19:g.179980302T>A NA A7MD46|D3DWR0 hg19 CCDS4455.1 0.02 4.081676 GCTxATG COVERED NOVEL CNOT6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253532.1 1 2.405109 KEEP 0 0 0 8 218 TT 0.99257 0.992544 0 + 6 60 208 0 0 13.758804 96 60 3372 111 ENST00000393356.1 0.058824 0.999973 CNOT6 57472 __UNKNOWN__ __UNKNOWN__ 5 179980527 179980527 __UNKNOWN__ Intron SNP A A G rs11738129 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:179980527A>G ENST00000393356.1 + 6 809 CNOT6_ENST00000502447.1_Intron|CNOT6_ENST00000261951.4_Intron Q9ULM6 CNOT6_HUMAN CCR4-NOT transcription complex, subunit 6 NA NA exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of ligand-dependent nuclear receptor transcription coactivator activity (GO:2000327)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351) CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634) exoribonuclease activity (GO:0004532)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723) central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1) 23 all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) OV - Ovarian serous cystadenocarcinoma(192;0.023) TTGAATCTAAAGAAGCCAAGA 0.378 NA A||| 1836 0.366613 0.2905 0.3934 5008 , , NA 17733 0.2143 NA 0.5497 False NA ,,, NA NA NA 2504 0.4192 NA NA NA NA 0 A 420,964 70,280,342 134 116 122 2 0.2 5 dbSNP_120 122 1839,1343 533,773,285 no intron CNOT6 NM_015455.3 603,1053,627 GG,GA,AA 42.2062,30.3468,49.4744 179980527 2259,2307 692 1591 2283 SO:0001627 intron_variant AB033020 CCDS4455.1 5q35.3 2014-06-17 ENSG00000113300 ENSG00000113300 57472 14099 protein-coding gene gene with protein product 608951 NA 11889047 Standard NM_015455 XM_005265953 NA Approved CCR4, KIAA1194, Ccr4a uc003mlx.3 Q9ULM6 OTTHUMG00000130935 ENST00000393356.1:c.385+56A>G chr5.hg19:g.179980527A>G NA A7MD46|D3DWR0 hg19 CCDS4455.1 0.02 4.499511 TAAxGAA COVERED NOVEL CNOT6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253532.1 0 3.445066 KEEP 0 1 33 23 731 AA 0.999909 0.999909 0 + 8 60 291 0 0 19.760606 126 60 4721 184 ENST00000393356.1 0.059701 1 CNOT6 57472 __UNKNOWN__ __UNKNOWN__ 5 179998454 179998454 __UNKNOWN__ Intron SNP C C T rs13164597|rs111675586 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:179998454C>T ENST00000393356.1 + 13 1885 CNOT6_ENST00000261951.4_Intron Q9ULM6 CNOT6_HUMAN CCR4-NOT transcription complex, subunit 6 NA NA exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of ligand-dependent nuclear receptor transcription coactivator activity (GO:2000327)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351) CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634) exoribonuclease activity (GO:0004532)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723) central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1) 23 all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) OV - Ovarian serous cystadenocarcinoma(192;0.023) GACTGATAAGCTTTTCAAACC 0.408 NA T||| 1827 0.364816 0.2897 0.3833 5008 , , NA 20542 0.2143 NA 0.5487 False NA ,,, NA NA NA 2504 0.4192 NA NA NA NA 0 T 1424,2982 676.7+/-403.3 237,950,1016 94 84 87 3.6 0 5 dbSNP_121 87 4907,3693 516.8+/-378.9 1373,2161,766 no intron CNOT6 NM_015455.3 1610,3111,1782 TT,TC,CC 42.9419,32.3196,48.6775 179998454 6331,6675 2203 4300 6503 SO:0001627 intron_variant AB033020 CCDS4455.1 5q35.3 2014-06-17 ENSG00000113300 ENSG00000113300 57472 14099 protein-coding gene gene with protein product 608951 NA 11889047 Standard NM_015455 XM_005265953 NA Approved CCR4, KIAA1194, Ccr4a uc003mlx.3 Q9ULM6 OTTHUMG00000130935 ENST00000393356.1:c.1461+22C>T chr5.hg19:g.179998454C>T NA A7MD46|D3DWR0 hg19 CCDS4455.1 0.02 11.28421 AAGxTTT COVERED NOVEL CNOT6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253532.1 2 5.754865 KEEP 0 1 34 31 1133 CC 0.999997 0.999997 0 + 10 60 369 0 0 23.322507 247 60 9398 321 ENST00000393356.1 0.038911 1 CNOT6 57472 __UNKNOWN__ __UNKNOWN__ 5 180002849 180002849 __UNKNOWN__ 3'UTR SNP A A C rs34524755 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:180002849A>C ENST00000393356.1 + 0 3747 CNOT6_ENST00000261951.4_3'UTR Q9ULM6 CNOT6_HUMAN CCR4-NOT transcription complex, subunit 6 NA NA exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of ligand-dependent nuclear receptor transcription coactivator activity (GO:2000327)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351) CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634) exoribonuclease activity (GO:0004532)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723) central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1) 23 all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) OV - Ovarian serous cystadenocarcinoma(192;0.023) TCTTACTAACAATTTTTATAC 0.348 NA A||| 713 0.142372 0.1241 0.1369 5008 , , NA 16354 0.1171 NA 0.1839 False NA ,,, NA NA NA 2504 0.1544 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB033020 CCDS4455.1 5q35.3 2014-06-17 ENSG00000113300 ENSG00000113300 57472 14099 protein-coding gene gene with protein product 608951 NA 11889047 Standard NM_015455 XM_005265953 NA Approved CCR4, KIAA1194, Ccr4a uc003mlx.3 Q9ULM6 OTTHUMG00000130935 ENST00000393356.1:c.*1649A>C chr5.hg19:g.180002849A>C NA A7MD46|D3DWR0 hg19 CCDS4455.1 0.02 6.398622 AACxATT COVERED NOVEL CNOT6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253532.1 2 8.72509 KEEP 0 0 0 29 885 AA 0.999997 0.999997 0 + 8 60 293 0 0 19.17503 159 60 5759 210 ENST00000393356.1 0.047904 1 CNOT6 57472 __UNKNOWN__ __UNKNOWN__ 5 180003085 180003085 __UNKNOWN__ 3'UTR SNP C C T rs10069 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:180003085C>T ENST00000393356.1 + 0 3983 CNOT6_ENST00000261951.4_3'UTR Q9ULM6 CNOT6_HUMAN CCR4-NOT transcription complex, subunit 6 NA NA exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of ligand-dependent nuclear receptor transcription coactivator activity (GO:2000327)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351) CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634) exoribonuclease activity (GO:0004532)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723) central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1) 23 all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) OV - Ovarian serous cystadenocarcinoma(192;0.023) ATAATCAGTACATTGGAAAGC 0.303 NA C||| 712 0.142173 0.1241 0.1369 5008 , , NA 19274 0.1171 NA 0.1829 False NA ,,, NA NA NA 2504 0.1544 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB033020 CCDS4455.1 5q35.3 2014-06-17 ENSG00000113300 ENSG00000113300 57472 14099 protein-coding gene gene with protein product 608951 NA 11889047 Standard NM_015455 XM_005265953 NA Approved CCR4, KIAA1194, Ccr4a uc003mlx.3 Q9ULM6 OTTHUMG00000130935 ENST00000393356.1:c.*1885C>T chr5.hg19:g.180003085C>T NA A7MD46|D3DWR0 hg19 CCDS4455.1 0.02 5.991209 GTAxATT COVERED NOVEL CNOT6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253532.1 2 10.533961 KEEP 0 0 0 35 1225 CC 0.999999 0.999999 0 + 8 60 291 0 0 18.954671 160 60 5960 236 ENST00000393356.1 0.047619 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 5 180005414 180005414 __UNKNOWN__ IGR SNP T T C rs11739089 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:180005414T>C NA NA CNOT6 (9 upstream) : AC122714.1 (4030 downstream) NA NA NA TATTTTGTTGTATGTGTAAAC 0.323 NA T||| 713 0.142372 0.1241 0.1369 5008 , , NA 22233 0.1181 NA 0.1829 False NA ,,, NA NA NA 2504 0.1544 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr5.hg19:g.180005414T>C NA hg19 0.02 2.115572 TTGxATG COVERED NOVEL 0 0 4.513748 KEEP 0 0 0 15 477 TT 0.99649 0.996259 0 4 60 155 0 0 10.343673 84 60 2966 123 0.045455 0.999768 FLT4 2324 __UNKNOWN__ __UNKNOWN__ 5 180041242 180041242 __UNKNOWN__ Intron SNP T T C rs2934600 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:180041242T>C ENST00000261937.6 - 24 3298 FLT4_ENST00000393347.3_Intron|FLT4_ENST00000502649.1_Intron NM_182925.4 NP_891555.2 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 NA NA blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944) cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021) NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268) GCGTGTCCCGTGGTGGATGGG 0.657 NA NA NA NA NA NA NA NA NA NA Colon(97;1075 1466 27033 27547 35871) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X68203 CCDS4457.1, CCDS43412.1 5q34-q35 2013-01-29 ENSG00000037280 ENSG00000037280 2324 2.7.10.1 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 3767 protein-coding gene gene with protein product 136352 NA 1319394 Standard NM_002020 NA Approved VEGFR3, PCL uc003mlz.4 P35916 OTTHUMG00000130931 ENST00000261937.6:c.3220-63A>G chr5.hg19:g.180041242T>C NA A8K6L4|B5A926|Q16067|Q86W07|Q86W08 hg19 CCDS4457.1 0.02 6.229405 CCGxGGT COVERED NOVEL FLT4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253527.4 0 3.009082 KEEP 0 0 0 10 310 TT 0.992708 0.992708 0 - 30 60 945 0 0 74.534214 139 60 4837 209 ENST00000261937.6 0.177515 1 ZFP62 643836 __UNKNOWN__ __UNKNOWN__ 5 180277343 180277343 __UNKNOWN__ Silent SNP T T C rs149387085 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:180277343T>C ENST00000502412.1 - 2 1209 c.1152A>G c.(1150-1152)aaA>aaG p.K384K ZFP62_ENST00000359141.6_Silent_p.K324K|ZFP62_ENST00000512132.1_Silent_p.K351K|ZFP62_ENST00000506377.1_Intron NM_001172638.1 NP_001166109.1 Q8NB50 ZFP62_HUMAN ZFP62 zinc finger protein 384 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676) NS(1)|endometrium(2)|pancreas(1) 4 all_cancers(89;4.01e-05)|all_epithelial(37;4.69e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00469)|Breast(19;0.114) all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TGTGGATCCTTTTATGCACTA 0.458 NA T||| 237 0.0473243 0.0 0.0043 5008 , , NA 20813 0.1448 NA 0.006 False NA ,,, NA NA NA 2504 0.0838 NA NA NA NA 0 T , 3,1381 0,3,689 64 57 59 1152,1053 4.5 1 5 dbSNP_134 59 40,3142 1,38,1552 no coding-synonymous,coding-synonymous ZFP62 NM_001172638.1,NM_152283.4 , 1,41,2241 CC,CT,TT 1.2571,0.2168,0.9417 , 384/901,351/868 180277343 43,4523 692 1591 2283 SO:0001819 synonymous_variant AK002206 CCDS47357.1, CCDS47357.2, CCDS54955.1 5q35.3 2013-01-08 2012-11-27 ENSG00000196670 643836 Zinc fingers, C2H2-type 23241 protein-coding gene gene with protein product 610281 zinc finger protein 62 homolog (mouse), zinc finger protein 62 NA 8808410 Standard NM_152283 NM_152283 NA Approved FLJ34231, ZET, ZNF755 uc011dhf.2 Q8NB50 ENST00000502412.1:c.1152A>G chr5.hg19:g.180277343T>C NA B4DIP6|B4E0N3|B5MDX6|B7ZVZ2|B9EIP6|E9PFT8|J3QTA9 hg19 CCDS54955.1 0.02 6.739921 CCTxTTA COVERED NOVEL ZFP62-002 PUTATIVE basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000368386.2 2 12.337713 KEEP 0 0 0 41 1321 TT 1 1 0 - 8 60 307 0 0 20.210204 177 60 6337 267 ENST00000502412.1 0.043243 1 BTNL8 79908 __UNKNOWN__ __UNKNOWN__ 5 180326502 180326502 __UNKNOWN__ Intron SNP C C T rs2619739 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:180326502C>T ENST00000231229.4 + 1 283 BTNL8_ENST00000511704.1_Intron|BTNL8_ENST00000340184.4_Intron|BTNL8_ENST00000400707.3_Intron|BTNL8_ENST00000508408.1_Intron NM_001159708.1|NM_024850.2 NP_001153180.1|NP_079126.1 Q6UX41 BTNL8_HUMAN butyrophilin-like 8 NA NA immune system process (GO:0002376) integral component of membrane (GO:0016021) breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AAGGATCAGGCGCTGTGGAAA 0.478 NA C||| 456 0.0910543 0.0658 0.0548 5008 , , NA 23752 0.0367 NA 0.1024 False NA ,,, NA NA NA 2504 0.1953 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK025111 CCDS4459.1, CCDS43413.1, CCDS54956.1, CCDS54957.1, CCDS54958.1, CCDS54959.1 5q35.3 2014-01-14 ENSG00000113303 ENSG00000113303 79908 Immunoglobulin superfamily / V-set domain containing, Butyrophilins 26131 protein-coding gene gene with protein product 615606 NA 12975309 Standard NM_024850 NM_024850 NA Approved FLJ21458, BTN9.2 uc003mmp.3 Q6UX41 OTTHUMG00000130932 ENST00000231229.4:c.49+143C>T chr5.hg19:g.180326502C>T NA A4QMZ8|A6NEX6|B7Z409|B7Z5B1|E9PEF6|E9PG07|F2Z2B2|F8W712|Q9H730 hg19 CCDS4459.1 0.02 6.568823 AGGxGCT COVERED NOVEL BTNL8-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000253528.2 1 6.92094 KEEP 0 0 0 23 739 CC 0.999892 0.999892 0 + 6 60 230 0 0 14.41656 176 60 5888 233 ENST00000231229.4 0.032967 1 BTNL8 79908 __UNKNOWN__ __UNKNOWN__ 5 180335671 180335671 __UNKNOWN__ Silent SNP G G A rs249355 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:180335671G>A ENST00000231229.4 + 2 369 c.135G>A c.(133-135)aaG>aaA p.K45K BTNL8_ENST00000511704.1_Intron|BTNL8_ENST00000340184.4_Silent_p.K45K|BTNL8_ENST00000400707.3_Intron|BTNL8_ENST00000508408.1_Silent_p.K45K NM_001159708.1|NM_024850.2 NP_001153180.1|NP_079126.1 Q6UX41 BTNL8_HUMAN butyrophilin-like 8 45 Ig-like V-type 1. NA immune system process (GO:0002376) integral component of membrane (GO:0016021) breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TGTCTCCTAAGACCAATGCAG 0.577 NA G||| 451 0.0900559 0.0658 0.0519 5008 , , NA 18693 0.0367 NA 0.1024 False NA ,,, NA NA NA 2504 0.1922 NA NA NA NA 0 G ,,,, 275,4131 154.8+/-188.1 4,267,1932 113 112 112 135,,135,,135 0.8 0 5 dbSNP_79 112 784,7816 185.0+/-232.9 38,708,3554 no coding-synonymous,intron,coding-synonymous,intron,coding-synonymous BTNL8 NM_001040462.2,NM_001159707.1,NM_001159708.1,NM_001159709.1,NM_024850.2 ,,,, 42,975,5486 AA,AG,GG 9.1163,6.2415,8.1424 ,,,, 45/501,,45/341,,45/348 180335671 1059,11947 2203 4300 6503 SO:0001819 synonymous_variant AK025111 CCDS4459.1, CCDS43413.1, CCDS54956.1, CCDS54957.1, CCDS54958.1, CCDS54959.1 5q35.3 2014-01-14 ENSG00000113303 ENSG00000113303 79908 Immunoglobulin superfamily / V-set domain containing, Butyrophilins 26131 protein-coding gene gene with protein product 615606 NA 12975309 Standard NM_024850 NM_024850 NA Approved FLJ21458, BTN9.2 uc003mmp.3 Q6UX41 OTTHUMG00000130932 ENST00000231229.4:c.135G>A chr5.hg19:g.180335671G>A NA A4QMZ8|A6NEX6|B7Z409|B7Z5B1|E9PEF6|E9PG07|F2Z2B2|F8W712|Q9H730 hg19 CCDS4459.1 0.02 8.176483 TAAxACC COVERED NOVEL BTNL8-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000253528.2 1 15.049485 KEEP 0 0 0 50 1808 GG 1 1 0 + 10 60 365 0 0 23.098783 237 60 8869 376 ENST00000231229.4 0.040486 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 5 180530686 180530686 __UNKNOWN__ IGR SNP A A G rs10479604 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:180530686A>G NA NA BTNL9 (42163 upstream) : OR2V1 (20670 downstream) NA NA NA gggtttcaccatgttggtcag 0.627 NA A||| 3053 0.609625 0.789 0.5086 5008 , , NA 10115 0.4196 NA 0.5755 False NA ,,, NA NA NA 2504 0.6697 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr5.hg19:g.180530686A>G NA hg19 0.02 -0.017543 ACCxTGT UNCOVERED NOVEL 0 22 10.376728 KEEP 14 2 35 47 1403 AA 0.999999 0 0 2 60 62 0 0 7.153552 0 0 0 64 1 0 TRIM7 81786 __UNKNOWN__ __UNKNOWN__ 5 180625254 180625254 __UNKNOWN__ Intron SNP G G A rs254458 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:180625254G>A ENST00000274773.7 - 6 1050 CTC-338M12.6_ENST00000512508.1_RNA|CTC-338M12.6_ENST00000509080.1_RNA|TRIM7_ENST00000393315.1_Intron|TRIM7_ENST00000504241.1_Intron|TRIM7_ENST00000393319.3_Intron|TRIM7_ENST00000422067.2_Intron|CTC-338M12.6_ENST00000502812.2_RNA|TRIM7_ENST00000361809.3_Intron NM_203293.1 NP_976038.1 Q9C029 TRIM7_HUMAN tripartite motif containing 7 NA NA cytoplasm (GO:0005737)|nucleus (GO:0005634) zinc ion binding (GO:0008270) NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1) 17 all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802) GTGCATGAGCGACACGGGAGA 0.522 NA g||| 553 0.110423 0.0129 0.0937 5008 , , NA 16603 0.1329 NA 0.175 False NA ,,, NA NA NA 2504 0.1646 NA NA NA Esophageal Squamous(128;2258 2308 35507 48647) NA 0 G ,,,, 141,4265 100.7+/-139.4 7,127,2069 136 115 122 ,,,, -4.1 0 5 dbSNP_79 122 1561,7039 291.1+/-300.1 136,1289,2875 no intron,intron,intron,intron,intron TRIM7 NM_203293.1,NM_203294.1,NM_203295.1,NM_203296.1,NM_203297.1 ,,,, 143,1416,4944 AA,AG,GG 18.1512,3.2002,13.0863 ,,,, ,,,, 180625254 1702,11304 2203 4300 6503 SO:0001627 intron_variant AF220032 CCDS4462.1, CCDS4463.1, CCDS4464.1, CCDS43414.1 5q35.3 2013-01-09 2011-01-25 ENSG00000146054 ENSG00000146054 81786 Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers 16278 protein-coding gene gene with protein product glycogenin-interacting protein, tripartite motif protein TRIM7 609315 tripartite motif-containing 7 NA 11331580 Standard NM_203296 NM_203294 NA Approved RNF90, GNIP uc003mmz.1 Q9C029 OTTHUMG00000130963 ENST00000274773.7:c.989-36C>T chr5.hg19:g.180625254G>A NA A2RUE4|D3DWR7|Q969F5|Q96F67|Q96J89|Q96J90 hg19 CCDS4462.1 0.02 8.017735 AGCxACA COVERED NOVEL TRIM7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253569.3 1 21.364928 KEEP 0 0 0 71 2387 GG 1 1 0 - 9 60 318 0 0 19.571397 223 60 7863 366 ENST00000274773.7 0.038793 1 TRIM7 81786 __UNKNOWN__ __UNKNOWN__ 5 180627250 180627250 __UNKNOWN__ Intron SNP T T C rs445864 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:180627250T>C ENST00000274773.7 - 3 680 CTC-338M12.6_ENST00000509080.1_RNA|TRIM7_ENST00000393315.1_Intron|TRIM7_ENST00000393319.3_5'UTR|CTC-338M12.6_ENST00000511517.1_RNA|CTC-338M12.6_ENST00000419707.2_RNA|TRIM7_ENST00000422067.2_Intron|CTC-338M12.6_ENST00000502812.2_RNA|TRIM7_ENST00000361809.3_Intron NM_203293.1 NP_976038.1 Q9C029 TRIM7_HUMAN tripartite motif containing 7 NA NA cytoplasm (GO:0005737)|nucleus (GO:0005634) zinc ion binding (GO:0008270) NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1) 17 all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802) GTCCCAGCTCTGAACAAGCTG 0.562 NA C||| 1072 0.214058 0.3018 0.121 5008 , , NA 19729 0.1548 NA 0.1918 False NA ,,, NA NA NA 2504 0.2454 NA NA NA Esophageal Squamous(128;2258 2308 35507 48647) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF220032 CCDS4462.1, CCDS4463.1, CCDS4464.1, CCDS43414.1 5q35.3 2013-01-09 2011-01-25 ENSG00000146054 ENSG00000146054 81786 Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers 16278 protein-coding gene gene with protein product glycogenin-interacting protein, tripartite motif protein TRIM7 609315 tripartite motif-containing 7 NA 11331580 Standard NM_203296 NM_203294 NA Approved RNF90, GNIP uc003mmz.1 Q9C029 OTTHUMG00000130963 ENST00000274773.7:c.619-169A>G chr5.hg19:g.180627250T>C NA A2RUE4|D3DWR7|Q969F5|Q96F67|Q96J89|Q96J90 hg19 CCDS4462.1 0.02 6.275963 CTCxGAA COVERED NOVEL TRIM7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253569.3 0 8.424848 KEEP 0 0 0 28 873 TT 0.999997 0.999997 0 - 7 60 250 0 0 15.478881 174 60 6377 231 ENST00000274773.7 0.038674 1 TRIM41 90933 __UNKNOWN__ __UNKNOWN__ 5 180650744 180650744 __UNKNOWN__ 5'UTR SNP T T C rs2545098 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr5:180650744T>C ENST00000315073.5 + 0 455 TRIM41_ENST00000351937.5_5'UTR NM_033549.4 NP_291027.3 Q8WV44 TRI41_HUMAN tripartite motif containing 41 NA NA protein ubiquitination (GO:0016567) cytoplasm (GO:0005737)|nucleolus (GO:0005730) ligase activity (GO:0016874)|zinc ion binding (GO:0008270) NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 26 all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGCAGACTTGTACTCAGAGCC 0.627 NA C||| 2479 0.495008 0.9546 0.2695 5008 , , NA 13395 0.4266 NA 0.2227 False NA ,,, NA NA NA 2504 0.3845 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF258579 CCDS4465.1, CCDS4466.1 5q35.3 2013-01-09 2011-01-25 ENSG00000146063 ENSG00000146063 90933 Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers 19013 protein-coding gene gene with protein product RING-finger protein that interacts with C kinase 610530 tripartite motif-containing 41 NA 16022281 Standard NM_201627 NM_033549 NA Approved MGC1127, RINCK uc003mne.2 Q8WV44 OTTHUMG00000130965 ENST00000315073.5:c.-256T>C chr5.hg19:g.180650744T>C NA B3KNJ6|D3DWR9|Q5BKT0|Q7L484|Q96Q10|Q9BSL8 hg19 CCDS4466.1 0.02 4.532082 TTGxACT COVERED NOVEL TRIM41-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253574.3 3 17.072538 KEEP 0 1 35 69 2011 TT 1 0.999998 0 + 5 60 184 0 0 11.78379 114 60 3840 232 ENST00000315073.5 0.042017 0.999998 IRF4 3662 __UNKNOWN__ __UNKNOWN__ 6 397027 397027 __UNKNOWN__ Intron SNP C C T rs4959828 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:397027C>T ENST00000380956.4 + 5 618 IRF4_ENST00000495137.1_Intron NM_001195286.1|NM_002460.3 NP_001182215.1|NP_002451.2 Q15306 IRF4_HUMAN interferon regulatory factor 4 NA NA cytokine-mediated signaling pathway (GO:0019221)|defense response to protozoan (GO:0042832)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of DNA binding (GO:0043388)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of interleukin-13 biosynthetic process (GO:0045368)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of T-helper cell differentiation (GO:0045622)|T cell activation (GO:0042110)|T-helper 17 cell lineage commitment (GO:0072540)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337) cytosol (GO:0005829)|membrane (GO:0016020)|nuclear nucleosome (GO:0000788)|nucleus (GO:0005634) protein-lysine N-methyltransferase activity (GO:0016279)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134) haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2) 5 Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702) CCAGTGCTTCCTATCTCAGCC 0.542 NA T IGH@ MM NA NA NA NA NA NA NA NA NA Dom yes 6 6p25-p23 3662 interferon regulatory factor 4 L 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U52682 CCDS4469.1 6p25-p23 2008-08-29 ENSG00000137265 ENSG00000137265 3662 6119 protein-coding gene gene with protein product 601900 MUM1 NA 8921401, 18417578 Standard NM_002460 NA Approved LSIRF uc003msz.4 Q15306 OTTHUMG00000016294 ENST00000380956.4:c.493-81C>T chr6.hg19:g.397027C>T NA Q5VUI7|Q99660 hg19 CCDS4469.1 0.02 11.388695 TTCxTAT COVERED NOVEL IRF4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000043638.1 0 5.41716 KEEP 22 0 0 18 594 CC 0.999859 0.999859 0 + 30 39 1032 0 0 76.88311 237 60 8336 331 ENST00000380956.4 0.11236 1 IRF4 3662 __UNKNOWN__ __UNKNOWN__ 6 408079 408079 __UNKNOWN__ 3'UTR SNP C C T rs1050976 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:408079C>T ENST00000380956.4 + 0 1963 NM_001195286.1|NM_002460.3 NP_001182215.1|NP_002451.2 Q15306 IRF4_HUMAN interferon regulatory factor 4 NA NA cytokine-mediated signaling pathway (GO:0019221)|defense response to protozoan (GO:0042832)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of DNA binding (GO:0043388)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of interleukin-13 biosynthetic process (GO:0045368)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of T-helper cell differentiation (GO:0045622)|T cell activation (GO:0042110)|T-helper 17 cell lineage commitment (GO:0072540)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337) cytosol (GO:0005829)|membrane (GO:0016020)|nuclear nucleosome (GO:0000788)|nucleus (GO:0005634) protein-lysine N-methyltransferase activity (GO:0016279)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134) haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2) 5 Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702) TACTGAAATGCGCTCTTTAAT 0.393 NA T IGH@ MM C||| 1569 0.313299 0.031 0.4438 5008 , , NA 22793 0.3105 NA 0.4751 False NA ,,, NA NA NA 2504 0.4387 NA NA NA Dom yes 6 6p25-p23 3662 interferon regulatory factor 4 L 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U52682 CCDS4469.1 6p25-p23 2008-08-29 ENSG00000137265 ENSG00000137265 3662 6119 protein-coding gene gene with protein product 601900 MUM1 NA 8921401, 18417578 Standard NM_002460 NA Approved LSIRF uc003msz.4 Q15306 OTTHUMG00000016294 ENST00000380956.4:c.*481C>T chr6.hg19:g.408079C>T NA Q5VUI7|Q99660 hg19 CCDS4469.1 0.02 6.421311 ATGxGCT COVERED NOVEL IRF4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000043638.1 2 5.71751 KEEP 0 0 0 19 635 CC 0.99986 0.99986 0 + 11 60 396 1 0 26.989738 165 60 5746 216 ENST00000380956.4 0.0625 1 EXOC2 55770 __UNKNOWN__ __UNKNOWN__ 6 497520 497520 __UNKNOWN__ Intron SNP G G C rs6909878 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:497520G>C ENST00000230449.4 - 25 2572 EXOC2_ENST00000448181.3_Intron NM_018303.5 NP_060773.3 Q96KP1 EXOC2_HUMAN exocyst complex component 2 NA NA cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031) exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886) breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2) 46 Ovarian(93;0.0733) Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897) OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14) ATGGTGCTTTGTGGGGCTTTT 0.373 NA G||| 1883 0.375998 0.0666 0.3084 5008 , , NA 16730 0.7123 NA 0.492 False NA ,,, NA NA NA 2504 0.3763 NA NA NA NA 0 G 529,3877 236.1+/-248.4 38,453,1712 105 104 104 -4.4 0 6 dbSNP_116 104 4165,4435 553.6+/-386.3 1025,2115,1160 no intron EXOC2 NM_018303.4 1063,2568,2872 CC,CG,GG 48.4302,12.0064,36.091 497520 4694,8312 2203 4300 6503 SO:0001627 intron_variant AJ420556 CCDS34327.1 6p25.3 2013-01-22 2005-11-01 2005-11-01 ENSG00000112685 ENSG00000112685 55770 24968 protein-coding gene gene with protein product 615329 SEC5-like 1 (S. cerevisiae) SEC5L1 NA 12575951, 12459492 Standard NM_018303 NM_018303 NA Approved FLJ11026, Sec5p uc003mtd.4 Q96KP1 OTTHUMG00000137437 ENST00000230449.4:c.2437-31C>G chr6.hg19:g.497520G>C NA B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7 hg19 CCDS34327.1 0.02 8.389978 TTTxTGG COVERED NOVEL EXOC2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000039627.1 1 6.356003 KEEP 0 1 34 33 1149 GG 0.999999 0.999999 0 - 7 60 262 0 0 15.869631 228 60 8529 303 ENST00000230449.4 0.029787 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 1513777 1513777 __UNKNOWN__ IGR SNP T T C rs61096518 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:1513777T>C NA NA RN7SL352P (5926 upstream) : RP11-157J24.2 (14821 downstream) NA NA NA CACTGAAACATGGGATAGGTA 0.363 NA T||| 680 0.135783 0.0605 0.1282 5008 , , NA 21764 0.2252 NA 0.0954 False NA ,,, NA NA NA 2504 0.1922 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.1513777T>C NA hg19 0.02 8.213585 ACAxGGG COVERED NOVEL 0 4 5.697663 KEEP 0 0 0 19 597 TT 0.99986 0.99986 0 12 60 410 0 0 26.487081 209 60 7816 288 0.054299 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 1515374 1515374 __UNKNOWN__ IGR SNP A A C rs3935776 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:1515374A>C NA NA RN7SL352P (7523 upstream) : RP11-157J24.2 (13224 downstream) NA NA NA GAATCCCTCAAGCAGGTAGGA 0.478 NA A||| 1592 0.317891 0.3752 0.2637 5008 , , NA 20809 0.3313 NA 0.2853 False NA ,,, NA NA NA 2504 0.2986 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.1515374A>C NA hg19 0.02 7.379656 TCAxGCA COVERED NOVEL 0 2 5.416064 KEEP 0 0 0 18 572 AA 0.999859 0.999859 0 10 60 376 0 0 25.885947 159 60 5736 209 0.059172 1 GMDS 2762 __UNKNOWN__ __UNKNOWN__ 6 1742794 1742794 __UNKNOWN__ Silent SNP A A G rs3734739 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:1742794A>G ENST00000380815.4 - 8 1067 c.798T>C c.(796-798)gaT>gaC p.D266D GMDS_ENST00000530927.1_Silent_p.D236D NM_001500.3 NP_001491.1 O60547 GMDS_HUMAN GDP-mannose 4,6-dehydratase 266 NA 'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|GDP-mannose metabolic process (GO:0019673)|Notch signaling pathway (GO:0007219) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062) GDP-mannose 4,6-dehydratase activity (GO:0008446)|NADP+ binding (GO:0070401) GMDS/PDE8B(2) breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1) 21 Ovarian(93;0.0733) all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802) Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563) CCTCCGGCTCATCATTCTGCA 0.443 NA A||| 2438 0.486821 0.2867 0.4726 5008 , , NA 21928 0.6607 NA 0.4901 False NA ,,, NA NA NA 2504 0.5849 NA NA NA NA 0 A 1383,3023 456.5+/-351.3 214,955,1034 119 102 108 798 -4.6 0.9 6 dbSNP_107 108 3885,4715 546.1+/-384.9 875,2135,1290 no coding-synonymous GMDS NM_001500.2 1089,3090,2324 GG,GA,AA 45.1744,31.389,40.5044 266/373 1742794 5268,7738 2203 4300 6503 SO:0001819 synonymous_variant AF042377 CCDS4474.1, CCDS58994.1 6p25 2011-09-14 ENSG00000112699 ENSG00000112699 2762 4.2.1.47 Short chain dehydrogenase/reductase superfamily / Extended SDR fold 4369 protein-coding gene gene with protein product short chain dehydrogenase/reductase family 3E, member 1 602884 NA 9525924, 19027726 Standard NM_001500 NA Approved GMD, SDR3E1 uc003mtq.3 O60547 OTTHUMG00000016143 ENST00000380815.4:c.798T>C chr6.hg19:g.1742794A>G NA E9PI88|O75357|Q5T954|Q6FH09|Q9UGZ3|Q9UJK9 hg19 CCDS4474.1 0.02 8.47823 CTCxTCA COVERED NOVEL GMDS-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000043380.3 2 11.133831 KEEP 0 0 0 37 1158 AA 1 1 0 - 10 60 371 0 0 24.111105 215 60 7965 329 ENST00000380815.4 0.044444 1 GMDS 2762 __UNKNOWN__ __UNKNOWN__ 6 1930299 1930299 __UNKNOWN__ Intron SNP T T A rs2274023 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:1930299T>A ENST00000380815.4 - 7 1041 GMDS_ENST00000530927.1_Intron NM_001500.3 NP_001491.1 O60547 GMDS_HUMAN GDP-mannose 4,6-dehydratase NA NA 'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|GDP-mannose metabolic process (GO:0019673)|Notch signaling pathway (GO:0007219) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062) GDP-mannose 4,6-dehydratase activity (GO:0008446)|NADP+ binding (GO:0070401) GMDS/PDE8B(2) breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1) 21 Ovarian(93;0.0733) all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802) Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563) TATCAATGGATACGGGTATTT 0.443 NA T||| 75 0.014976 0.0 0.0014 5008 , , NA 21037 0.0675 NA 0.0 False NA ,,, NA NA NA 2504 0.0061 NA NA NA NA 0 T 4,4402 8.1+/-20.4 0,4,2199 102 90 94 -7.7 0 6 dbSNP_100 94 0,8600 0,0,4300 no intron GMDS NM_001500.2 0,4,6499 AA,AT,TT 0.0,0.0908,0.0308 1930299 4,13002 2203 4300 6503 SO:0001627 intron_variant AF042377 CCDS4474.1, CCDS58994.1 6p25 2011-09-14 ENSG00000112699 ENSG00000112699 2762 4.2.1.47 Short chain dehydrogenase/reductase superfamily / Extended SDR fold 4369 protein-coding gene gene with protein product short chain dehydrogenase/reductase family 3E, member 1 602884 NA 9525924, 19027726 Standard NM_001500 NA Approved GMD, SDR3E1 uc003mtq.3 O60547 OTTHUMG00000016143 ENST00000380815.4:c.771+37A>T chr6.hg19:g.1930299T>A NA E9PI88|O75357|Q5T954|Q6FH09|Q9UGZ3|Q9UJK9 hg19 CCDS4474.1 0.02 12.882338 GGAxACG COVERED NOVEL GMDS-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000043380.3 6 13.238914 KEEP 0 0 0 44 1351 TT 1 1 0 - 14 60 503 0 0 32.161852 299 60 10769 410 ENST00000380815.4 0.044728 1 GMDS 2762 __UNKNOWN__ __UNKNOWN__ 6 2117804 2117804 __UNKNOWN__ Intron SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:2117804G>A ENST00000380815.4 - 3 417 GMDS_ENST00000530927.1_Intron NM_001500.3 NP_001491.1 O60547 GMDS_HUMAN GDP-mannose 4,6-dehydratase NA NA 'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|GDP-mannose metabolic process (GO:0019673)|Notch signaling pathway (GO:0007219) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062) GDP-mannose 4,6-dehydratase activity (GO:0008446)|NADP+ binding (GO:0070401) GMDS/PDE8B(2) breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1) 21 Ovarian(93;0.0733) all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802) Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563) AGTTTTTACAGTGTGGAAAGA 0.343 NA NA NA NA NA NA NA NA NA NA NA 0 102 101 102 NA NA 6 NA 2117804 2203 4300 6503 SO:0001627 intron_variant AF042377 CCDS4474.1, CCDS58994.1 6p25 2011-09-14 ENSG00000112699 ENSG00000112699 2762 4.2.1.47 Short chain dehydrogenase/reductase superfamily / Extended SDR fold 4369 protein-coding gene gene with protein product short chain dehydrogenase/reductase family 3E, member 1 602884 NA 9525924, 19027726 Standard NM_001500 NA Approved GMD, SDR3E1 uc003mtq.3 O60547 OTTHUMG00000016143 ENST00000380815.4:c.148-14C>T chr6.hg19:g.2117804G>A NA E9PI88|O75357|Q5T954|Q6FH09|Q9UGZ3|Q9UJK9 hg19 CCDS4474.1 0.02 17.268154 ACAxTGT COVERED NOVEL GMDS-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000043380.3 0 18.051623 KEEP 0 0 0 60 2164 GG 1 1 0 - 14 60 521 0 0 32.388535 389 60 14761 584 ENST00000380815.4 0.034739 1 C6orf195 154386 __UNKNOWN__ __UNKNOWN__ 6 2624262 2624262 __UNKNOWN__ 5'UTR SNP T T G rs1150656 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:2624262T>G ENST00000296847.3 - 0 318 NM_152554.2 NP_689767.2 Q96MT4 CF195_HUMAN chromosome 6 open reading frame 195 NA NA cervix(1)|endometrium(1)|lung(2)|skin(1) 5 Ovarian(93;0.0412) all_hematologic(90;0.0895) CTGTCAGCTTTTATAAGTCTT 0.458 NA T||| 710 0.141773 0.152 0.2104 5008 , , NA 19541 0.2054 NA 0.0726 False NA ,,, NA NA NA 2504 0.0849 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AK056496 CCDS43416.1 6p25.2 2008-10-21 ENSG00000164385 ENSG00000164385 154386 21600 protein-coding gene gene with protein product NA Standard NM_152554 NM_152554 NA Approved FLJ31934, bA145H9.2 uc003mtw.2 Q96MT4 OTTHUMG00000014122 ENST00000296847.3:c.-206A>C chr6.hg19:g.2624262T>G NA Q3SY08|Q3SY09|Q3SY10|Q5TAW4 hg19 CCDS43416.1 0.02 4.995512 CTTxTAT COVERED NOVEL C6orf195-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000039633.1 1 7.521738 KEEP 0 0 0 25 778 TT 0.999931 0.99993 0 - 5 60 200 0 0 13.324152 117 60 4230 176 ENST00000296847.3 0.040984 0.999999 MYLK4 340156 __UNKNOWN__ __UNKNOWN__ 6 2689217 2689217 __UNKNOWN__ Intron SNP A A C rs6930915 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:2689217A>C ENST00000274643.7 - 4 578 MYLK4_ENST00000268446.5_Intron NM_001012418.3 NP_001012418.2 Q86YV6 MYLK4_HUMAN myosin light chain kinase family, member 4 NA NA extracellular vesicular exosome (GO:0070062) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1) 23 Ovarian(93;0.0412) all_hematologic(90;0.0897) ACAGAAGGGCAATCTGTCAAG 0.463 NA C||| 2456 0.490415 0.6127 0.4928 5008 , , NA 18873 0.4573 NA 0.3976 False NA ,,, NA NA NA 2504 0.453 NA NA NA NA 0 C 2620,1786 504.7+/-365.9 782,1056,365 68 73 71 1.2 0 6 dbSNP_116 71 3398,5202 617.8+/-396.7 643,2112,1545 no intron MYLK4 NM_001012418.3 1425,3168,1910 CC,CA,AA 39.5116,40.5356,46.271 2689217 6018,6988 2203 4300 6503 SO:0001627 intron_variant CCDS34330.1 6p25.2 2008-01-23 ENSG00000145949 ENSG00000145949 340156 27972 protein-coding gene gene with protein product caMLCK like NA Standard NM_001012418 NM_001012418 NA Approved SgK085 uc003mty.4 Q86YV6 OTTHUMG00000014121 ENST00000274643.7:c.236-27T>G chr6.hg19:g.2689217A>C NA A2RUC0|Q5TAW2 hg19 CCDS34330.1 0.02 7.062746 GGCxATC COVERED NOVEL MYLK4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000039632.2 0 10.230249 KEEP 0 0 0 34 1043 AA 0.999998 0.999998 0 - 10 60 361 0 0 24.335627 161 60 5789 240 ENST00000274643.7 0.05848 1 SERPINB6 5269 __UNKNOWN__ __UNKNOWN__ 6 2949152 2949152 __UNKNOWN__ Missense_Mutation SNP C C T rs187482841 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:2949152C>T ENST00000380520.1 - 5 2719 c.725G>A c.(724-726)aGa>aAa p.R242K SERPINB6_ENST00000380546.3_Missense_Mutation_p.R242K|SERPINB6_ENST00000335686.5_Missense_Mutation_p.R242K|SERPINB6_ENST00000380539.1_Missense_Mutation_p.R242K|SERPINB6_ENST00000380529.1_Missense_Mutation_p.R242K|SERPINB6_ENST00000380524.1_Missense_Mutation_p.R242K P35237 SPB6_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 6 242 NA negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234) protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867) breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2) 17 Ovarian(93;0.0412) all_hematologic(90;0.0895) Drotrecogin alfa(DB00055) TGTTACCGTTCTCAAGTCAGT 0.498 NA C||| 11 0.00219649 0.0 0.0 5008 , , NA 8538 0.0109 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 C LYS/ARG,LYS/ARG 0,4406 0,0,2203 124 114 118 725,725 -2.2 0 6 118 1,8599 1.2+/-3.3 0,1,4299 yes missense,missense SERPINB6 NM_004568.5,NM_001195291.1 26,26 0,1,6502 TT,TC,CC 0.0116,0.0,0.0077 benign,benign 242/377,242/377 2949152 1,13005 2203 4300 6503 SO:0001583 missense Z22658 CCDS4479.1, CCDS75386.1, CCDS75387.1 6p25.2 2014-02-18 2005-08-18 ENSG00000124570 ENSG00000124570 5269 Serine (or cysteine) peptidase inhibitors 8950 protein-coding gene gene with protein product cytoplasmic antiproteinase 173321 serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 6, deafness, autosomal recessive 91 PI6, DFNB91 NA 8415716, 9858835, 20451170, 24172014 Standard NM_004568 NA Approved PTI, CAP uc031smo.1 P35237 OTTHUMG00000016170 ENST00000380520.1:c.725G>A chr6.hg19:g.2949152C>T ENSP00000369891:p.Arg242Lys NA B2RBA8|Q59F97|Q5TD06|Q7Z2Y7|Q96J44|Q9UDI7 hg19 CCDS4479.1 0.02 8.272049 GTTxTCA COVERED 2 9.157509157509158E-4 0 0.0 0 0.0 2 0.0034965034965034965 0 0.0 C 3.045 -0.196657 0.06259 0.0 1.16E-4 ENSG00000124570 ENST00000380524;ENST00000380520;ENST00000335686;ENST00000380529;ENST00000380539;ENST00000380546 D;D;D;D;D;D 0.81908 -1.55;-1.55;-1.55;-1.55;-1.55;-1.55 5.01 -2.21 0.06973 Serpin domain (3); 1.837480 0.02312 N 0.072210 T 0.32496 0.0831 N 0.01686 -0.76 0.09310 N 1 B 0.02656 0.0 B 0.09377 0.004 T 0.35919 -0.9769 10 0.12103 T 0.63 . 5.5955 0.17325 0.1222:0.3298:0.0:0.548 . 242 P35237 SPB6_HUMAN K 242 ENSP00000369896:R242K;ENSP00000369891:R242K;ENSP00000338358:R242K;ENSP00000369901:R242K;ENSP00000369912:R242K;ENSP00000369919:R242K ENSP00000338358:R242K R - 2 0 SERPINB6 2894151 0.000000 0.05858 0.001000 0.08648 0.048000 0.14542 0.222000 0.17699 -0.202000 0.10268 -1.130000 0.01982 AGA NOVEL SERPINB6-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000043422.1 1 16.552833 KEEP 0 0 0 55 1925 CC 1 1 0 - 11 60 395 0 0 26.183069 192 60 7171 313 ENST00000380520.1 0.054187 1 TUBB2B 347733 __UNKNOWN__ __UNKNOWN__ 6 3227037 3227037 __UNKNOWN__ Intron SNP G G A rs73349465 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:3227037G>A ENST00000259818.7 - 2 249 TUBB2B_ENST00000473006.1_Intron NM_178012.4 NP_821080.1 Q9BVA1 TBB2B_HUMAN tubulin, beta 2B class IIb NA NA 'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|neuron migration (GO:0001764)|protein folding (GO:0006457)|protein polymerization (GO:0051258) cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634) GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200) kidney(2)|large_intestine(5)|lung(1)|prostate(1)|skin(1) 10 Ovarian(93;0.0386) all_hematologic(90;0.108) GTCGTGACCCGGGCACAGCCG 0.577 NA G||| 793 0.158347 0.5265 0.0562 5008 , , NA 16251 0.0337 NA 0.008 False NA ,,, NA NA NA 2504 0.0164 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC001352 CCDS4485.1 6p25.2 2011-10-10 2011-10-10 ENSG00000137285 ENSG00000137285 347733 Tubulins 30829 protein-coding gene gene with protein product class IIb beta-tubulin 612850 tubulin, beta 2B NA 8619474, 9110174 Standard NM_178012 NM_178012 NA Approved MGC8685, DKFZp566F223, bA506K6.1 uc003mvg.3 Q9BVA1 OTTHUMG00000014143 ENST00000259818.7:c.58-134C>T chr6.hg19:g.3227037G>A NA A8K068 hg19 CCDS4485.1 0.02 11.78112 CCCxGGC COVERED NOVEL TUBB2B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000039680.2 1 11.671603 KEEP 0 1 32 50 1697 GG 1 1 0 - 10 60 390 0 0 25.040362 270 60 9898 377 ENST00000259818.7 0.035714 1 PSMG4 389362 __UNKNOWN__ __UNKNOWN__ 6 3289983 3289983 __UNKNOWN__ Intron SNP T T C rs4959230 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:3289983T>C ENST00000451246.2 + 2 308 SLC22A23_ENST00000436008.2_Intron|SLC22A23_ENST00000380302.4_Intron|SLC22A23_ENST00000406686.3_Intron|SLC22A23_ENST00000490273.1_Intron Q5JS54 PSMG4_HUMAN proteasome (prosome, macropain) assembly chaperone 4 NA NA endometrium(1) 1 CTGGCACTTGTCCTCTGTGAC 0.612 NA T||| 1912 0.381789 0.5756 0.2867 5008 , , NA 16161 0.4563 NA 0.1054 False NA ,,, NA NA NA 2504 0.3947 NA NA NA NA 0 T , 2178,2228 582.8+/-385.7 548,1082,573 111 83 92 , 0.6 0 6 dbSNP_111 92 1202,7398 243.2+/-272.9 67,1068,3165 no intron,intron SLC22A23 NM_015482.1,NM_021945.5 , 615,2150,3738 CC,CT,TT 13.9767,49.4326,25.988 , , 3289983 3380,9626 2203 4300 6503 SO:0001627 intron_variant CCDS47360.1, CCDS47361.1, CCDS47362.1 6p25.2 2010-06-23 2008-02-25 2008-02-25 ENSG00000180822 ENSG00000180822 389362 21108 protein-coding gene gene with protein product chromosome 6 open reading frame 86 C6orf86 NA 17707236 Standard NM_001128591 NA Approved PAC4 uc010jnl.1 Q5JS54 OTTHUMG00000014142 ENST00000451246.2:c.228+7419T>C chr6.hg19:g.3289983T>C NA C9J2F8|F8WBZ2|Q5JS53|Q5JS56 hg19 0.02 7.247212 TTGxCCT COVERED NOVEL PSMG4-008 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000367067.1 2 8.420581 KEEP 0 0 0 28 812 TT 0.999997 0.999997 0 + 10 60 346 0 0 23.618594 140 60 4854 201 ENST00000451246.2 0.066667 1 PSMG4 389362 __UNKNOWN__ __UNKNOWN__ 6 3290726 3290726 __UNKNOWN__ Intron SNP A A G rs4076221 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:3290726A>G ENST00000451246.2 + 2 308 SLC22A23_ENST00000436008.2_Intron|SLC22A23_ENST00000380302.4_Intron|SLC22A23_ENST00000406686.3_Intron|SLC22A23_ENST00000490273.1_Intron Q5JS54 PSMG4_HUMAN proteasome (prosome, macropain) assembly chaperone 4 NA NA endometrium(1) 1 ATACGCATGCATATACGTGTG 0.413 NA G||| 2118 0.422923 0.7201 0.3069 5008 , , NA 23767 0.4573 NA 0.1054 False NA ,,, NA NA NA 2504 0.3947 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS47360.1, CCDS47361.1, CCDS47362.1 6p25.2 2010-06-23 2008-02-25 2008-02-25 ENSG00000180822 ENSG00000180822 389362 21108 protein-coding gene gene with protein product chromosome 6 open reading frame 86 C6orf86 NA 17707236 Standard NM_001128591 NA Approved PAC4 uc010jnl.1 Q5JS54 OTTHUMG00000014142 ENST00000451246.2:c.228+8162A>G chr6.hg19:g.3290726A>G NA C9J2F8|F8WBZ2|Q5JS53|Q5JS56 hg19 0.02 4.194815 TGCxTAT COVERED NOVEL PSMG4-008 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000367067.1 0 3.610828 KEEP 0 0 0 12 370 AA 0.993634 0.993634 0 + 7 60 260 0 0 17.143931 139 60 5069 168 ENST00000451246.2 0.047945 1 PSMG4 389362 __UNKNOWN__ __UNKNOWN__ 6 3291236 3291236 __UNKNOWN__ Intron SNP C C T rs9392473 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:3291236C>T ENST00000451246.2 + 2 308 SLC22A23_ENST00000436008.2_Intron|SLC22A23_ENST00000380302.4_Intron|SLC22A23_ENST00000406686.3_Intron|SLC22A23_ENST00000490273.1_Intron Q5JS54 PSMG4_HUMAN proteasome (prosome, macropain) assembly chaperone 4 NA NA endometrium(1) 1 ggcggcatcccgggtgggagg 0.527 NA C||| 758 0.151358 0.0499 0.1297 5008 , , NA 19349 0.3413 NA 0.0477 False NA ,,, NA NA NA 2504 0.2147 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS47360.1, CCDS47361.1, CCDS47362.1 6p25.2 2010-06-23 2008-02-25 2008-02-25 ENSG00000180822 ENSG00000180822 389362 21108 protein-coding gene gene with protein product chromosome 6 open reading frame 86 C6orf86 NA 17707236 Standard NM_001128591 NA Approved PAC4 uc010jnl.1 Q5JS54 OTTHUMG00000014142 ENST00000451246.2:c.228+8672C>T chr6.hg19:g.3291236C>T NA C9J2F8|F8WBZ2|Q5JS53|Q5JS56 hg19 0.02 6.493837 TCCxGGG COVERED NOVEL PSMG4-008 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000367067.1 0 12.640527 KEEP 0 0 0 42 1450 CC 1 1 0 + 6 60 227 0 0 14.158542 173 60 6077 253 ENST00000451246.2 0.03352 1 PSMG4 389362 __UNKNOWN__ __UNKNOWN__ 6 3291336 3291336 __UNKNOWN__ Intron SNP C C T rs9378356 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:3291336C>T ENST00000451246.2 + 2 308 SLC22A23_ENST00000436008.2_Intron|SLC22A23_ENST00000380302.4_Intron|SLC22A23_ENST00000406686.3_Intron|SLC22A23_ENST00000490273.1_Intron Q5JS54 PSMG4_HUMAN proteasome (prosome, macropain) assembly chaperone 4 NA NA endometrium(1) 1 cttttagtttcgacaacagta 0.522 NA T||| 2405 0.480232 0.9047 0.3285 5008 , , NA 20078 0.4663 NA 0.1113 False NA ,,, NA NA NA 2504 0.408 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS47360.1, CCDS47361.1, CCDS47362.1 6p25.2 2010-06-23 2008-02-25 2008-02-25 ENSG00000180822 ENSG00000180822 389362 21108 protein-coding gene gene with protein product chromosome 6 open reading frame 86 C6orf86 NA 17707236 Standard NM_001128591 NA Approved PAC4 uc010jnl.1 Q5JS54 OTTHUMG00000014142 ENST00000451246.2:c.228+8772C>T chr6.hg19:g.3291336C>T NA C9J2F8|F8WBZ2|Q5JS53|Q5JS56 hg19 0.02 11.026764 TTTxGAC COVERED NOVEL PSMG4-008 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000367067.1 1 24.676722 KEEP 0 0 0 82 2728 CC 1 1 0 + 9 60 332 0 0 20.006596 287 60 10160 459 ENST00000451246.2 0.030405 1 PSMG4 389362 __UNKNOWN__ __UNKNOWN__ 6 3291915 3291915 __UNKNOWN__ Intron SNP A A G rs4329154 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:3291915A>G ENST00000451246.2 + 2 308 SLC22A23_ENST00000436008.2_Intron|SLC22A23_ENST00000380302.4_Intron|SLC22A23_ENST00000406686.3_Intron|SLC22A23_ENST00000490273.1_Intron Q5JS54 PSMG4_HUMAN proteasome (prosome, macropain) assembly chaperone 4 NA NA endometrium(1) 1 AACTAATTTTATAAAGAGCTT 0.363 NA G||| 1450 0.289537 0.3124 0.2637 5008 , , NA 18137 0.4554 NA 0.0934 False NA ,,, NA NA NA 2504 0.3078 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS47360.1, CCDS47361.1, CCDS47362.1 6p25.2 2010-06-23 2008-02-25 2008-02-25 ENSG00000180822 ENSG00000180822 389362 21108 protein-coding gene gene with protein product chromosome 6 open reading frame 86 C6orf86 NA 17707236 Standard NM_001128591 NA Approved PAC4 uc010jnl.1 Q5JS54 OTTHUMG00000014142 ENST00000451246.2:c.228+9351A>G chr6.hg19:g.3291915A>G NA C9J2F8|F8WBZ2|Q5JS53|Q5JS56 hg19 0.02 9.062774 TTTxTAA COVERED NOVEL PSMG4-008 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000367067.1 1 16.24815 KEEP 0 0 0 54 1679 AA 1 1 0 + 20 60 730 0 0 52.729495 218 60 8004 365 ENST00000451246.2 0.084034 1 SLC22A23 63027 __UNKNOWN__ __UNKNOWN__ 6 3438738 3438738 __UNKNOWN__ Intron SNP G G A rs12197689 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:3438738G>A ENST00000436008.2 - 1 1117 SLC22A23_ENST00000380302.4_Intron|SLC22A23_ENST00000406686.3_Intron|SLC22A23_ENST00000380298.2_Intron|SLC22A23_ENST00000490273.1_Intron A1A5C7 S22AN_HUMAN solute carrier family 22, member 23 NA NA ion transport (GO:0006811) integral component of membrane (GO:0016021) transmembrane transporter activity (GO:0022857) endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1) 14 Ovarian(93;0.0493) all_hematologic(90;0.0905) GGCCTCCAGCGCTTGGTGTCT 0.507 NA G||| 3102 0.619409 0.382 0.5274 5008 , , NA 19587 0.6478 NA 0.7435 False NA ,,, NA NA NA 2504 0.8487 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ420525 CCDS34331.1, CCDS47363.1, CCDS75389.1 6p25.2 2013-05-22 2008-01-11 2008-01-11 ENSG00000137266 ENSG00000137266 63027 Solute carriers 21106 protein-coding gene gene with protein product 611697 chromosome 6 open reading frame 85 C6orf85 NA 17714910 Standard NM_021945 NM_015482 NA Approved FLJ22174 uc003mvm.3 A1A5C7 OTTHUMG00000014144 ENST00000436008.2:c.654+17401C>T chr6.hg19:g.3438738G>A NA A1A5C8|Q5T8B8|Q6ZMH3|Q8IW73 hg19 0.02 4.29443 AGCxCTT COVERED 1315 0.6021062271062271 191 0.3882113821138211 210 0.580110497237569 351 0.6136363636363636 563 0.7427440633245382 G 7.792 0.711731 0.15306 . . ENSG00000137266 ENST00000467177 T 0.59772 0.24 3.35 -6.71 0.01760 . . . . . T 0.29491 0.0735 . . . 0.58432 P 1.0000000000287557E-6 . . . . . . T 0.39941 -0.9589 5 0.56958 D 0.05 . 6.6583 0.23000 0.5285:0.0:0.3433:0.1283 rs12197689;rs13208913;rs17136554;rs12197689 . . . C 38 ENSP00000418985:R38C ENSP00000418985:R38C R - 1 0 SLC22A23 3383737 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -3.068000 0.00620 -2.086000 0.00863 -2.199000 0.00308 CGC NOVEL SLC22A23-002 NOVEL not_organism_supported|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000039683.2 0 7.292268 KEEP 0 2 59 45 1587 GG 1 1 0 - 10 60 376 0 0 26.540606 136 60 4916 266 ENST00000436008.2 0.068493 1 SLC22A23 63027 __UNKNOWN__ __UNKNOWN__ 6 3439637 3439637 __UNKNOWN__ Intron SNP G G A rs9502003 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:3439637G>A ENST00000436008.2 - 1 1117 SLC22A23_ENST00000380302.4_Intron|SLC22A23_ENST00000406686.3_Intron|SLC22A23_ENST00000380298.2_Intron|SLC22A23_ENST00000490273.1_Intron A1A5C7 S22AN_HUMAN solute carrier family 22, member 23 NA NA ion transport (GO:0006811) integral component of membrane (GO:0016021) transmembrane transporter activity (GO:0022857) endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1) 14 Ovarian(93;0.0493) all_hematologic(90;0.0905) GAGCCACTGCGGCCCTGGACG 0.502 NA A||| 3753 0.749401 0.8109 0.5663 5008 , , NA 17491 0.6895 NA 0.7545 False NA ,,, NA NA NA 2504 0.8528 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ420525 CCDS34331.1, CCDS47363.1, CCDS75389.1 6p25.2 2013-05-22 2008-01-11 2008-01-11 ENSG00000137266 ENSG00000137266 63027 Solute carriers 21106 protein-coding gene gene with protein product 611697 chromosome 6 open reading frame 85 C6orf85 NA 17714910 Standard NM_021945 NM_015482 NA Approved FLJ22174 uc003mvm.3 A1A5C7 OTTHUMG00000014144 ENST00000436008.2:c.654+16502C>T chr6.hg19:g.3439637G>A NA A1A5C8|Q5T8B8|Q6ZMH3|Q8IW73 hg19 0.02 6.843749 TGCxGCC COVERED NOVEL SLC22A23-002 NOVEL not_organism_supported|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000039683.2 2 11.134582 KEEP 0 0 0 37 1252 GG 1 1 0 - 9 60 340 0 0 22.441625 187 60 6589 294 ENST00000436008.2 0.045918 1 PRPF4B 8899 __UNKNOWN__ __UNKNOWN__ 6 4052167 4052167 __UNKNOWN__ Intron SNP C C A rs3747761 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:4052167C>A ENST00000337659.6 + 10 2274 PRPF4B_ENST00000538861.1_Intron NM_003913.4 NP_003904.3 Q13523 PRP4B_HUMAN pre-mRNA processing factor 4B NA NA mRNA splicing, via spliceosome (GO:0000398)|protein phosphorylation (GO:0006468)|RNA splicing (GO:0008380) catalytic step 2 spliceosome (GO:0071013)|chromosome (GO:0005694)|nucleus (GO:0005634) ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674) breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 22 Ovarian(93;0.0925) all_hematologic(90;0.0895) TTCAATTTTACCCCAATTTTT 0.308 NA A||| 3609 0.720647 0.7413 0.7305 5008 , , NA 15334 0.7887 NA 0.6511 False NA ,,, NA NA NA 2504 0.6871 NA NA NA NA 0 A 3284,1036 1268,748,144 14 15 15 -1.3 0 6 dbSNP_107 15 5795,2767 1966,1863,452 no intron PRPF4B NM_003913.4 3234,2611,596 AA,AC,CC 32.3172,23.9815,29.5218 4052167 9079,3803 2160 4281 6441 SO:0001627 intron_variant U48736 CCDS4488.1 6p24.2 2013-10-03 2013-10-03 ENSG00000112739 ENSG00000112739 8899 17346 protein-coding gene gene with protein product 602338 PRP4 pre-mRNA processing factor 4 homolog B (yeast) NA 9628581, 11418604 Standard XR_241936 NA Approved Prp4, PR4H, KIAA0536 uc003mvv.3 Q13523 OTTHUMG00000014157 ENST00000337659.6:c.2175-24C>A chr6.hg19:g.4052167C>A NA A8K5C9|Q5D0F6|Q5TAY8|Q8IVC3|Q8TDP2|Q96QT7|Q9UEE6 hg19 CCDS4488.1 0.02 4.192079 TTAxCCC COVERED NOVEL PRPF4B-011 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000314018.2 0 4.814848 KEEP 0 0 0 16 526 CC 0.997832 0.997831 0 + 7 60 251 0 0 16.513684 127 60 4621 153 ENST00000337659.6 0.052239 1 PRPF4B 8899 __UNKNOWN__ __UNKNOWN__ 6 4052383 4052383 __UNKNOWN__ Intron SNP G G A rs3747762 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:4052383G>A ENST00000337659.6 + 10 2412 PRPF4B_ENST00000538861.1_Intron NM_003913.4 NP_003904.3 Q13523 PRP4B_HUMAN pre-mRNA processing factor 4B NA NA mRNA splicing, via spliceosome (GO:0000398)|protein phosphorylation (GO:0006468)|RNA splicing (GO:0008380) catalytic step 2 spliceosome (GO:0071013)|chromosome (GO:0005694)|nucleus (GO:0005634) ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674) breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 22 Ovarian(93;0.0925) all_hematologic(90;0.0895) TCATCTTTACGATCTCATTTT 0.353 NA C||| 3216 0.642173 0.4576 0.7061 5008 , , NA 19361 0.7877 NA 0.6511 False NA ,,, NA NA NA 2504 0.6871 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U48736 CCDS4488.1 6p24.2 2013-10-03 2013-10-03 ENSG00000112739 ENSG00000112739 8899 17346 protein-coding gene gene with protein product 602338 PRP4 pre-mRNA processing factor 4 homolog B (yeast) NA 9628581, 11418604 Standard XR_241936 NA Approved Prp4, PR4H, KIAA0536 uc003mvv.3 Q13523 OTTHUMG00000014157 ENST00000337659.6:c.2312+55G>A chr6.hg19:g.4052383G>A NA A8K5C9|Q5D0F6|Q5TAY8|Q8IVC3|Q8TDP2|Q96QT7|Q9UEE6 hg19 CCDS4488.1 0.02 8.875472 TACxATC COVERED NOVEL PRPF4B-011 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000314018.2 4 7.793978 KEEP 0 2 60 47 1621 GG 1 1 0 + 14 60 487 0 0 32.140101 234 60 8731 338 ENST00000337659.6 0.056452 1 PRPF4B 8899 __UNKNOWN__ __UNKNOWN__ 6 4057429 4057429 __UNKNOWN__ Intron SNP A A G rs853408 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:4057429A>G ENST00000337659.6 + 13 2833 PRPF4B_ENST00000538861.1_Intron|PRPF4B_ENST00000494674.1_Intron NM_003913.4 NP_003904.3 Q13523 PRP4B_HUMAN pre-mRNA processing factor 4B NA NA mRNA splicing, via spliceosome (GO:0000398)|protein phosphorylation (GO:0006468)|RNA splicing (GO:0008380) catalytic step 2 spliceosome (GO:0071013)|chromosome (GO:0005694)|nucleus (GO:0005634) ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674) breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 22 Ovarian(93;0.0925) all_hematologic(90;0.0895) AAGGTAAGACATTAGCATGAG 0.363 NA A||| 3609 0.720647 0.7398 0.7305 5008 , , NA 19397 0.7907 NA 0.6511 False NA ,,, NA NA NA 2504 0.6871 NA NA NA NA 0 A 3312,1094 718.2+/-408.8 1252,808,143 63 59 61 -6.9 0 6 dbSNP_86 61 5814,2786 676.8+/-403.3 1955,1904,441 no intron PRPF4B NM_003913.4 3207,2712,584 GG,GA,AA 32.3953,24.8298,29.8324 4057429 9126,3880 2203 4300 6503 SO:0001627 intron_variant U48736 CCDS4488.1 6p24.2 2013-10-03 2013-10-03 ENSG00000112739 ENSG00000112739 8899 17346 protein-coding gene gene with protein product 602338 PRP4 pre-mRNA processing factor 4 homolog B (yeast) NA 9628581, 11418604 Standard XR_241936 NA Approved Prp4, PR4H, KIAA0536 uc003mvv.3 Q13523 OTTHUMG00000014157 ENST00000337659.6:c.2733+8A>G chr6.hg19:g.4057429A>G NA A8K5C9|Q5D0F6|Q5TAY8|Q8IVC3|Q8TDP2|Q96QT7|Q9UEE6 hg19 CCDS4488.1 0.02 4.355904 GACxTTA COVERED NOVEL PRPF4B-011 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000314018.2 0 12.337605 KEEP 0 0 0 41 1297 AA 1 1 0 + 6 60 215 0 0 13.651084 132 60 4914 215 ENST00000337659.6 0.043478 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 4530213 4530213 __UNKNOWN__ IGR SNP G G A rs34517723 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:4530213G>A NA NA RP11-274H24.1 (34210 upstream) : RP4-529N6.2 (69307 downstream) NA NA NA AGCTTTGGTTGGCAAATGTCT 0.368 NA G||| 1528 0.305112 0.1543 0.3674 5008 , , NA 19121 0.3562 NA 0.3628 False NA ,,, NA NA NA 2504 0.3528 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.4530213G>A NA hg19 0.02 4.049809 GTTxGCA COVERED NOVEL 0 1 2.407769 KEEP 0 0 0 8 283 GG 0.99257 0.992568 0 5 60 181 0 0 11.518885 112 60 4215 135 0.042735 0.999998 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 4530269 4530269 __UNKNOWN__ IGR SNP C C T rs34165863 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:4530269C>T NA NA RP11-274H24.1 (34266 upstream) : RP4-529N6.2 (69251 downstream) NA NA NA CAATATACCACTCTGAGCTAG 0.368 NA T||| 1528 0.305112 0.1543 0.3674 5008 , , NA 20059 0.3562 NA 0.3628 False NA ,,, NA NA NA 2504 0.3528 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.4530269C>T NA hg19 0.02 6.886837 CCAxTCT COVERED NOVEL 0 0 6.019563 KEEP 0 0 0 20 705 CC 0.999863 0.999863 0 8 60 292 0 0 18.604883 183 60 6919 254 0.041885 1 FARS2 10667 __UNKNOWN__ __UNKNOWN__ 6 5431340 5431340 __UNKNOWN__ Missense_Mutation SNP A A G rs11243011 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:5431340A>G ENST00000324331.6 + 4 1175 c.839A>G c.(838-840)aAc>aGc p.N280S FARS2_ENST00000274680.4_Missense_Mutation_p.N280S O95363 SYFM_HUMAN phenylalanyl-tRNA synthetase 2, mitochondrial 280 NA N -> S (in dbSNP:rs11243011). {ECO:0000269|PubMed:14702039, ECO:0000269|Ref.3, ECO:0000269|Ref.7}. gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033) mitochondrial matrix (GO:0005759) ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|tRNA binding (GO:0000049) p.N280S(1) endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2) 15 Ovarian(93;0.11) all_hematologic(90;0.0104) L-Phenylalanine(DB00120) ATGGAGATCAACTTTCATGGA 0.418 NA A||| 1178 0.235224 0.0552 0.2349 5008 , , NA 19965 0.4772 NA 0.161 False NA ,,, NA NA NA 2504 0.3057 NA NA NA NA 1 Substitution - Missense(1) stomach(1) A SER/ASN 325,4081 171.9+/-202.1 8,309,1886 193 178 183 839 3.1 1 6 dbSNP_120 183 1654,6946 305.0+/-307.2 166,1322,2812 yes missense FARS2 NM_006567.3 46 174,1631,4698 GG,GA,AA 19.2326,7.3763,15.2161 benign 280/452 5431340 1979,11027 2203 4300 6503 SO:0001583 missense AF097441 CCDS4494.1 6p25.1 2011-07-01 2007-02-23 2004-12-03 ENSG00000145982 ENSG00000145982 10667 6.1.1.20 Aminoacyl tRNA synthetases / Class II 21062 protein-coding gene gene with protein product phenylalanine tRNA ligase 2, mitochondrial 611592 phenylalanine-tRNA synthetase 1 (mitochondrial) FARS1 NA 10329163 Standard NM_006567 NM_006567 NA Approved dJ236A3.1 uc003mwr.2 O95363 OTTHUMG00000014178 ENST00000324331.6:c.839A>G chr6.hg19:g.5431340A>G ENSP00000316335:p.Asn280Ser NA B2R664|Q53F66|Q5TCS3|Q6FG29|Q9NPY7|Q9P062 hg19 CCDS4494.1 0.02 24.527353 TCAxCTT COVERED 473 0.21657509157509158 29 0.05894308943089431 78 0.2154696132596685 246 0.43006993006993005 120 0.158311345646438 A 10.50 1.366451 0.24771 0.073763 0.192326 ENSG00000145982 ENST00000274680;ENST00000397563;ENST00000324331;ENST00000445533 T;T;T 0.62639 0.01;0.01;0.01 5.5 3.13 0.36017 Aminoacyl-tRNA synthetase, class II (1);Phenylalanyl-tRNA synthetase (1); 0.385244 0.29932 N 0.010831 T 0.14184 0.0343 N 0.02916 -0.46 0.32635 P 0.5214190000000001 B 0.06786 0.001 B 0.04013 0.001 T 0.09100 -1.0690 9 0.17369 T 0.5 -15.1623 8.9638 0.35863 0.8529:0.0:0.1471:0.0 rs11243011;rs52836920;rs56643167;rs60399479;rs11243011 280 O95363 SYFM_HUMAN S 280;130;280;76 ENSP00000274680:N280S;ENSP00000316335:N280S;ENSP00000392525:N76S ENSP00000274680:N280S N + 2 0 FARS2 5376339 1.000000 0.71417 1.000000 0.80357 0.989000 0.77384 3.367000 0.52350 0.402000 0.25451 0.477000 0.44152 AAC NOVEL FARS2-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000467790.1 4 21.66547 KEEP 0 0 0 72 2304 AA 1 1 0 + 19 60 733 0 0 47.184946 488 60 17544 739 ENST00000324331.6 0.037475 1 FARS2 10667 __UNKNOWN__ __UNKNOWN__ 6 5432114 5432114 __UNKNOWN__ Intron SNP G G A rs182031260 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:5432114G>A ENST00000324331.6 + 4 1240 FARS2_ENST00000274680.4_Intron O95363 SYFM_HUMAN phenylalanyl-tRNA synthetase 2, mitochondrial NA NA gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033) mitochondrial matrix (GO:0005759) ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|tRNA binding (GO:0000049) endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2) 15 Ovarian(93;0.11) all_hematologic(90;0.0104) L-Phenylalanine(DB00120) TATCTGAATTGAGTAATTTTT 0.269 NA G||| 1 0.000199681 0.0 0.0 5008 , , NA 12988 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF097441 CCDS4494.1 6p25.1 2011-07-01 2007-02-23 2004-12-03 ENSG00000145982 ENSG00000145982 10667 6.1.1.20 Aminoacyl tRNA synthetases / Class II 21062 protein-coding gene gene with protein product phenylalanine tRNA ligase 2, mitochondrial 611592 phenylalanine-tRNA synthetase 1 (mitochondrial) FARS1 NA 10329163 Standard NM_006567 NM_006567 NA Approved dJ236A3.1 uc003mwr.2 O95363 OTTHUMG00000014178 ENST00000324331.6:c.904+709G>A chr6.hg19:g.5432114G>A NA B2R664|Q53F66|Q5TCS3|Q6FG29|Q9NPY7|Q9P062 hg19 CCDS4494.1 0.02 5.941753 ATTxAGT COVERED NOVEL FARS2-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000467790.1 0 2.407536 KEEP 0 0 0 8 259 GG 0.99257 0.99257 0 + 7 60 252 0 0 15.610188 178 60 6623 195 ENST00000324331.6 0.037838 1 F13A1 2162 __UNKNOWN__ __UNKNOWN__ 6 6248679 6248679 __UNKNOWN__ Intron SNP A A G rs181689222 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:6248679A>G ENST00000264870.3 - 6 956 NM_000129.3 NP_000120.2 P00488 F13A_HUMAN coagulation factor XIII, A1 polypeptide NA NA blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576) blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093) metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 62 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) AAACAAAGAGAAACTAGTGTT 0.388 NA A||| 16 0.00319489 0.0 0.0 5008 , , NA 19374 0.0159 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 37 34 35 NA NA 6 NA 6248679 2203 4300 6503 SO:0001627 intron_variant M14539 CCDS4496.1 6p24.2-p23 2014-01-24 ENSG00000124491 ENSG00000124491 2162 Transglutaminases 3531 protein-coding gene gene with protein product 134570 F13A NA Standard NM_000129 NM_000129 NA Approved uc003mwv.3 P00488 OTTHUMG00000014186 ENST00000264870.3:c.691-27T>C chr6.hg19:g.6248679A>G NA Q59HA7|Q8N6X2|Q96P24|Q9BX29 hg19 CCDS4496.1 0.02 6.710597 GAGxAAC COVERED NOVEL F13A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000039756.3 0 5.114138 KEEP 0 0 0 17 508 AA 0.999366 0.999366 0 - 7 60 263 0 0 16.84582 170 60 6067 214 ENST00000264870.3 0.039548 1 RREB1 6239 __UNKNOWN__ __UNKNOWN__ 6 7229346 7229346 __UNKNOWN__ Silent SNP T T C rs2714315 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:7229346T>C ENST00000379938.2 + 10 1551 c.1014T>C c.(1012-1014)caT>caC p.H338H RREB1_ENST00000379933.3_Silent_p.H338H|RREB1_ENST00000334984.6_Silent_p.H338H|RREB1_ENST00000349384.6_Silent_p.H338H NM_001003699.3|NM_001003700.1 NP_001003699.1|NP_001003700.1 Q92766 RREB1_HUMAN ras responsive element binding protein 1 338 NA multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) AGCAGACCCATGTGGCGGCAG 0.627 NA C||| 2044 0.408147 0.792 0.2147 5008 , , NA 16187 0.2718 NA 0.3419 False NA ,,, NA NA NA 2504 0.2352 NA NA NA NA 0 C ,,, 3059,1347 448.5+/-348.7 1056,947,200 44 40 41 1014,1014,1014,1014 -0.2 0.2 6 dbSNP_100 41 2631,5969 685.0+/-404.0 408,1815,2077 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous RREB1 NM_001003698.3,NM_001003699.3,NM_001003700.1,NM_001168344.1 ,,, 1464,2762,2277 CC,CT,TT 30.593,30.5719,43.749 ,,, 338/1688,338/1743,338/1477,338/1688 7229346 5690,7316 2203 4300 6503 SO:0001819 synonymous_variant U26914 CCDS34335.1, CCDS34336.1, CCDS54963.1 6p25 2013-01-08 ENSG00000124782 ENSG00000124782 6239 Zinc fingers, C2H2-type 10449 protein-coding gene gene with protein product hindsight homolog (drosophila) 602209 NA 9367691, 18394891 Standard NM_001003698 NA Approved HNT uc003mxb.3 Q92766 OTTHUMG00000014201 ENST00000379938.2:c.1014T>C chr6.hg19:g.7229346T>C NA A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474 hg19 CCDS34335.1 0.02 4.644038 CCAxGTG COVERED NOVEL RREB1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000039774.3 1 2.676141 KEEP 0 2 66 32 976 TT 0.999998 0.999998 0 + 7 60 265 0 0 18.031239 122 60 4329 189 ENST00000379938.2 0.054264 1 RREB1 6239 __UNKNOWN__ __UNKNOWN__ 6 7229619 7229619 __UNKNOWN__ Silent SNP G G A rs12192672 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:7229619G>A ENST00000379938.2 + 10 1824 c.1287G>A c.(1285-1287)gcG>gcA p.A429A RREB1_ENST00000379933.3_Silent_p.A429A|RREB1_ENST00000334984.6_Silent_p.A429A|RREB1_ENST00000349384.6_Silent_p.A429A NM_001003699.3|NM_001003700.1 NP_001003699.1|NP_001003700.1 Q92766 RREB1_HUMAN ras responsive element binding protein 1 429 NA multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) TTCTCCCCGCGACCAAGGACA 0.582 NA G||| 1019 0.203474 0.3351 0.1715 5008 , , NA 18982 0.0417 NA 0.3082 False NA ,,, NA NA NA 2504 0.1074 NA NA NA NA 0 G ,,, 1391,3015 457.3+/-351.6 220,951,1032 60 55 57 1287,1287,1287,1287 -9.4 0.2 6 dbSNP_120 57 2390,6210 397.7+/-345.9 338,1714,2248 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous RREB1 NM_001003698.3,NM_001003699.3,NM_001003700.1,NM_001168344.1 ,,, 558,2665,3280 AA,AG,GG 27.7907,31.5706,29.0712 ,,, 429/1688,429/1743,429/1477,429/1688 7229619 3781,9225 2203 4300 6503 SO:0001819 synonymous_variant U26914 CCDS34335.1, CCDS34336.1, CCDS54963.1 6p25 2013-01-08 ENSG00000124782 ENSG00000124782 6239 Zinc fingers, C2H2-type 10449 protein-coding gene gene with protein product hindsight homolog (drosophila) 602209 NA 9367691, 18394891 Standard NM_001003698 NA Approved HNT uc003mxb.3 Q92766 OTTHUMG00000014201 ENST00000379938.2:c.1287G>A chr6.hg19:g.7229619G>A NA A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474 hg19 CCDS34335.1 0.02 24.798674 CGCxACC COVERED NOVEL RREB1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000039774.3 6 19.525823 KEEP 0 2 60 86 2864 GG 1 1 0 + 23 60 812 0 0 50.54339 555 60 19267 816 ENST00000379938.2 0.039792 1 RREB1 6239 __UNKNOWN__ __UNKNOWN__ 6 7250270 7250270 __UNKNOWN__ 3'UTR SNP G G A rs3778321 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:7250270G>A ENST00000379938.2 + 0 6835 RREB1_ENST00000349384.6_3'UTR NM_001003699.3|NM_001003700.1 NP_001003699.1|NP_001003700.1 Q92766 RREB1_HUMAN ras responsive element binding protein 1 NA NA multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) CCCAAGCATGGTCCAGGAGCA 0.547 NA G||| 309 0.0617013 0.0091 0.0576 5008 , , NA 15243 0.0377 NA 0.1571 False NA ,,, NA NA NA 2504 0.0624 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U26914 CCDS34335.1, CCDS34336.1, CCDS54963.1 6p25 2013-01-08 ENSG00000124782 ENSG00000124782 6239 Zinc fingers, C2H2-type 10449 protein-coding gene gene with protein product hindsight homolog (drosophila) 602209 NA 9367691, 18394891 Standard NM_001003698 NA Approved HNT uc003mxb.3 Q92766 OTTHUMG00000014201 ENST00000379938.2:c.*1069G>A chr6.hg19:g.7250270G>A NA A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474 hg19 CCDS34335.1 0.02 6.528067 ATGxTCC COVERED NOVEL RREB1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000039774.3 0 5.648429 KEEP 0 1 32 30 995 GG 0.999997 0.999997 0 + 9 60 336 0 0 22.492883 166 60 6085 232 ENST00000379938.2 0.051429 1 RREB1 6239 __UNKNOWN__ __UNKNOWN__ 6 7250639 7250639 __UNKNOWN__ 3'UTR SNP A A G rs41302869 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:7250639A>G ENST00000379938.2 + 0 7204 RREB1_ENST00000349384.6_3'UTR NM_001003699.3|NM_001003700.1 NP_001003699.1|NP_001003700.1 Q92766 RREB1_HUMAN ras responsive element binding protein 1 NA NA multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) CCTGGATGCAAAAAGGCAGGG 0.468 NA a||| 310 0.061901 0.0091 0.0576 5008 , , NA 19747 0.0377 NA 0.1571 False NA ,,, NA NA NA 2504 0.0634 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U26914 CCDS34335.1, CCDS34336.1, CCDS54963.1 6p25 2013-01-08 ENSG00000124782 ENSG00000124782 6239 Zinc fingers, C2H2-type 10449 protein-coding gene gene with protein product hindsight homolog (drosophila) 602209 NA 9367691, 18394891 Standard NM_001003698 NA Approved HNT uc003mxb.3 Q92766 OTTHUMG00000014201 ENST00000379938.2:c.*1438A>G chr6.hg19:g.7250639A>G NA A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474 hg19 CCDS34335.1 0.02 11.76967 GCAxAAA COVERED NOVEL RREB1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000039774.3 2 12.336374 KEEP 0 0 0 41 1300 AA 1 1 0 + 9 60 354 0 0 22.56271 261 60 9340 369 ENST00000379938.2 0.033333 1 RREB1 6239 __UNKNOWN__ __UNKNOWN__ 6 7250960 7250960 __UNKNOWN__ 3'UTR SNP G G A rs2714338 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:7250960G>A ENST00000379938.2 + 0 7525 RREB1_ENST00000349384.6_3'UTR NM_001003699.3|NM_001003700.1 NP_001003699.1|NP_001003700.1 Q92766 RREB1_HUMAN ras responsive element binding protein 1 NA NA multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) CACTTCACCAGTTTCTGAAAT 0.458 NA A||| 1635 0.326478 0.3926 0.2695 5008 , , NA 16603 0.4127 NA 0.3191 False NA ,,, NA NA NA 2504 0.1963 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U26914 CCDS34335.1, CCDS34336.1, CCDS54963.1 6p25 2013-01-08 ENSG00000124782 ENSG00000124782 6239 Zinc fingers, C2H2-type 10449 protein-coding gene gene with protein product hindsight homolog (drosophila) 602209 NA 9367691, 18394891 Standard NM_001003698 NA Approved HNT uc003mxb.3 Q92766 OTTHUMG00000014201 ENST00000379938.2:c.*1759G>A chr6.hg19:g.7250960G>A NA A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474 hg19 CCDS34335.1 0.02 4.531512 CCAxTTT COVERED NOVEL RREB1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000039774.3 2 9.264859 KEEP 0 1 29 41 1500 GG 1 0.999998 0 + 6 60 221 0 0 14.643997 113 60 4282 205 ENST00000379938.2 0.05042 0.999998 RREB1 6239 __UNKNOWN__ __UNKNOWN__ 6 7251451 7251451 __UNKNOWN__ 3'UTR SNP C C T rs1061637 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:7251451C>T ENST00000379938.2 + 0 8016 NM_001003699.3|NM_001003700.1 NP_001003699.1|NP_001003700.1 Q92766 RREB1_HUMAN ras responsive element binding protein 1 NA NA multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) TCTGTACCCTCGTAGTCAATA 0.438 NA C||| 1191 0.237819 0.2708 0.2003 5008 , , NA 14816 0.374 NA 0.164 False NA ,,, NA NA NA 2504 0.1554 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U26914 CCDS34335.1, CCDS34336.1, CCDS54963.1 6p25 2013-01-08 ENSG00000124782 ENSG00000124782 6239 Zinc fingers, C2H2-type 10449 protein-coding gene gene with protein product hindsight homolog (drosophila) 602209 NA 9367691, 18394891 Standard NM_001003698 NA Approved HNT uc003mxb.3 Q92766 OTTHUMG00000014201 ENST00000379938.2:c.*2250C>T chr6.hg19:g.7251451C>T NA A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474 hg19 CCDS34335.1 0.02 10.698433 CCTxGTA COVERED NOVEL RREB1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000039774.3 0 15.649924 KEEP 0 0 0 52 1760 CC 1 1 0 + 9 60 336 0 0 20.82515 257 70 9388 367 ENST00000379938.2 0.033835 1 SSR1 6745 __UNKNOWN__ __UNKNOWN__ 6 7268737 7268737 __UNKNOWN__ 3'UTR SNP G G A rs12523830 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:7268737G>A ENST00000474597.1 - 0 1609 P43307 SSRA_HUMAN signal sequence receptor, alpha NA NA activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|positive regulation of cell proliferation (GO:0008284)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) NS(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(1) 9 Ovarian(93;0.0398) TAACTCGTGCGCACGTGTGGC 0.652 NA g||| 418 0.0834665 0.1422 0.1095 5008 , , NA 16036 0.127 NA 0.0139 False NA ,,, NA NA NA 2504 0.0123 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS4499.1 6p24.3 2010-11-24 2008-08-26 ENSG00000124783 ENSG00000124783 6745 11323 protein-coding gene gene with protein product translocon-associated protein alpha 600868 NA Standard NM_001292008 NA Approved TRAPA uc003mxf.4 P43307 OTTHUMG00000014202 ENST00000474597.1:c.*626C>T chr6.hg19:g.7268737G>A NA A8K685|Q53GX2|Q53H19|Q5TAM3|Q6IB43|Q8NBH9|Q96IA2|Q9TNQ8|Q9UN49 hg19 0.02 16.71903 TGCxCAC COVERED NOVEL SSR1-003 NOVEL not_organism_supported|basic protein_coding NA protein_coding OTTHUMT00000353162.1 3 42.364695 KEEP 0 0 0 141 4794 GG 1 1 0 - 13 60 459 0 0 27.112412 396 60 13710 701 ENST00000474597.1 0.031785 1 SSR1 6745 __UNKNOWN__ __UNKNOWN__ 6 7282297 7282297 __UNKNOWN__ 3'UTR SNP G G A rs9406015 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:7282297G>A ENST00000244763.4 - 0 8747 SSR1_ENST00000474597.1_Intron|RP11-69L16.4_ENST00000379928.4_RNA NM_003144.3 NP_003135.2 P43307 SSRA_HUMAN signal sequence receptor, alpha NA NA activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|positive regulation of cell proliferation (GO:0008284)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) NS(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(1) 9 Ovarian(93;0.0398) TTGGGGGGTGGTGGTCAATGG 0.507 NA G||| 582 0.116214 0.1944 0.0576 5008 , , NA 19831 0.1528 NA 0.0775 False NA ,,, NA NA NA 2504 0.0542 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS4499.1 6p24.3 2010-11-24 2008-08-26 ENSG00000124783 ENSG00000124783 6745 11323 protein-coding gene gene with protein product translocon-associated protein alpha 600868 NA Standard NM_001292008 NA Approved TRAPA uc003mxf.4 P43307 OTTHUMG00000014202 ENST00000244763.4:c.*7800C>T chr6.hg19:g.7282297G>A NA A8K685|Q53GX2|Q53H19|Q5TAM3|Q6IB43|Q8NBH9|Q96IA2|Q9TNQ8|Q9UN49 hg19 CCDS4499.1 0.02 1.711193 GTGxTGG COVERED NOVEL SSR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000039775.2 0 4.514398 KEEP 0 0 0 15 509 GG 0.99649 0.996453 0 - 6 60 180 0 0 11.035995 94 60 3291 133 ENST00000244763.4 0.06 0.999962 SSR1 6745 __UNKNOWN__ __UNKNOWN__ 6 7288911 7288911 __UNKNOWN__ 3'UTR SNP T T C rs3799509 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:7288911T>C ENST00000244763.4 - 0 2133 SSR1_ENST00000534851.1_3'UTR|SSR1_ENST00000474597.1_Intron|SSR1_ENST00000397511.2_3'UTR|RP11-69L16.4_ENST00000379928.4_RNA NM_003144.3 NP_003135.2 P43307 SSRA_HUMAN signal sequence receptor, alpha NA NA activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|positive regulation of cell proliferation (GO:0008284)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) NS(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(1) 9 Ovarian(93;0.0398) CTATTTTACTTCACCCTCCAT 0.318 NA T||| 284 0.0567093 0.0696 0.1081 5008 , , NA 16759 0.0893 NA 0.0149 False NA ,,, NA NA NA 2504 0.0123 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS4499.1 6p24.3 2010-11-24 2008-08-26 ENSG00000124783 ENSG00000124783 6745 11323 protein-coding gene gene with protein product translocon-associated protein alpha 600868 NA Standard NM_001292008 NA Approved TRAPA uc003mxf.4 P43307 OTTHUMG00000014202 ENST00000244763.4:c.*1186A>G chr6.hg19:g.7288911T>C NA A8K685|Q53GX2|Q53H19|Q5TAM3|Q6IB43|Q8NBH9|Q96IA2|Q9TNQ8|Q9UN49 hg19 CCDS4499.1 0.02 11.914199 ACTxCAC COVERED NOVEL SSR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000039775.2 1 12.034028 KEEP 0 0 0 40 1241 TT 1 1 0 - 11 60 423 0 0 27.679262 254 60 9161 377 ENST00000244763.4 0.041509 1 CAGE1 285782 __UNKNOWN__ __UNKNOWN__ 6 7387236 7387236 __UNKNOWN__ Silent SNP G G A rs9406026 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:7387236G>A ENST00000502583.1 - 2 735 c.171C>T c.(169-171)acC>acT p.T57T CAGE1_ENST00000512086.1_Silent_p.T57T|CAGE1_ENST00000379918.4_Silent_p.T57T|CAGE1_ENST00000509324.1_5'UTR|CAGE1_ENST00000338150.4_Silent_p.T57T|CAGE1_ENST00000296742.7_Intron NM_001170692.1 NP_001164163.1 Q8TC20 CAGE1_HUMAN cancer antigen 1 57 NA breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1) 19 Ovarian(93;0.0418) AAGTGGTGCCGGTGGTTTCCA 0.403 NA G||| 1871 0.373602 0.3079 0.4337 5008 , , NA 19276 0.4504 NA 0.3638 False NA ,,, NA NA NA 2504 0.3507 NA NA NA NA 0 197 178 184 NA NA 6 NA 7387236 692 1591 2283 SO:0001819 synonymous_variant BC026194 CCDS47367.1, CCDS54964.1, CCDS54965.1 6p24.3 2009-08-06 2005-01-26 2005-01-27 ENSG00000164304 ENSG00000164304 285782 21622 protein-coding gene gene with protein product cancer/testis antigen 95 608304 cancer/testis antigen 3 CTAG3 NA 12531476 Standard NM_175745 NM_205864 NA Approved bA69L16.7, CT95 uc003mxl.2 Q8TC20 OTTHUMG00000014200 ENST00000502583.1:c.171C>T chr6.hg19:g.7387236G>A NA D6RCT9|Q5TAM0|Q86TM4|Q8N7R5 hg19 CCDS54965.1 0.02 8.499254 GCCxGTG COVERED NOVEL CAGE1-001 NOVEL non_canonical_conserved|not_organism_supported|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000039772.2 0 10.166447 KEEP 0 1 32 45 1499 GG 1 1 0 - 10 60 348 0 0 21.852501 224 60 7535 344 ENST00000502583.1 0.042735 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 7481302 7481302 __UNKNOWN__ IGR SNP G G T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:7481302G>T NA NA RIOK1 (63032 upstream) : RP3-512B11.3 (59381 downstream) NA NA NA TTCCTGCTCTGATGGGACTCT 0.383 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.7481302G>T NA hg19 0.02 1.903693 TCTxATG COVERED NOVEL 0 0 3.310876 KEEP 0 0 0 11 393 GG 0.993072 0.992072 0 4 60 146 0 0 9.681755 73 60 2727 115 0.051948 0.998993 DSP 1832 __UNKNOWN__ __UNKNOWN__ 6 7561431 7561431 __UNKNOWN__ Intron SNP C C T rs150462564 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:7561431C>T ENST00000379802.3 + 5 938 DSP_ENST00000418664.2_Intron NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin NA NA adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060) basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886) poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198) biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) gtgatccgcccgccttggcct 0.488 NA C||| 13 0.00259585 0.0008 0.0 5008 , , NA 18217 0.0119 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant J05211 CCDS4501.1, CCDS47368.1 6p24.3 2014-09-17 2003-05-20 ENSG00000096696 ENSG00000096696 1832 3052 protein-coding gene gene with protein product 125647 desmoplakin (DPI, DPII) NA 1889810 Standard NM_004415 NM_004415 NA Approved KPPS2, PPKS2, DPI, DPII uc003mxp.1 P15924 OTTHUMG00000014212 ENST00000379802.3:c.598-1454C>T chr6.hg19:g.7561431C>T NA B2RTT2|D7RX09|O75993|Q14189|Q9UHN4 hg19 CCDS4501.1 0.02 -0.05264 GCCxGCC UNCOVERED NOVEL DSP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000039786.2 3 2.708907 KEEP 0 0 0 9 323 CC 0.99254 0.036491 0 + 2 60 74 0 0 6.695647 4 60 145 22 ENST00000379802.3 0.333333 0.036766 SNRNP48 154007 __UNKNOWN__ __UNKNOWN__ 6 7590653 7590653 __UNKNOWN__ Intron SNP A A G rs2744384 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:7590653A>G ENST00000342415.5 + 1 215 NM_152551.3 NP_689764.3 Q6IEG0 SNR48_HUMAN small nuclear ribonucleoprotein 48kDa (U11/U12) NA NA mRNA processing (GO:0006397)|RNA splicing (GO:0008380) U12-type spliceosomal complex (GO:0005689) metal ion binding (GO:0046872) kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 10 GGAGGTGAGGAGCGCGGCCGC 0.697 NA G||| 2445 0.488219 0.5371 0.4798 5008 , , NA 12765 0.2738 NA 0.6014 False NA ,,, NA NA NA 2504 0.5327 NA NA NA NA 0 G 2248,1866 696,856,505 7 8 8 0.4 0 6 dbSNP_100 8 4913,3215 1557,1799,708 no intron SNRNP48 NM_152551.3 2253,2655,1213 GG,GA,AA 39.5546,45.3573,41.5047 7590653 7161,5081 2057 4064 6121 SO:0001627 intron_variant AK056796 CCDS4502.1 6p24.3 2011-10-11 2008-10-29 2008-10-29 ENSG00000168566 ENSG00000168566 154007 21368 protein-coding gene gene with protein product U11/U12 snRNP 48K chromosome 6 open reading frame 151 C6orf151 NA 15146077 Standard NM_152551 XR_427825 NA Approved FLJ32234, dJ512B11.2, dJ336K20B.1 uc003mxr.3 Q6IEG0 OTTHUMG00000014213 ENST00000342415.5:c.156+7A>G chr6.hg19:g.7590653A>G NA A8K8P4|Q14C91|Q5T339|Q5THM1|Q5THM2|Q96MK1 hg19 CCDS4502.1 0.02 4.605981 AGGxGCG COVERED NOVEL SNRNP48-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000039787.3 0 24.971947 KEEP 0 0 0 83 2559 AA 1 1 0 + 6 60 222 0 0 14.228748 139 60 4903 306 ENST00000342415.5 0.041379 1 SLC35B3 51000 __UNKNOWN__ __UNKNOWN__ 6 8434491 8434491 __UNKNOWN__ Intron SNP G G C rs9379195 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:8434491G>C ENST00000379660.4 - 2 453 SLC35B3_ENST00000426876.1_Intron|SLC35B3_ENST00000339306.5_Intron NM_001142540.1|NM_001142541.1|NM_015948.3 NP_001136012.1|NP_001136013.1|NP_057032.2 Q9H1N7 S35B3_HUMAN solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B3 NA NA 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805) Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(1)|prostate(1) 15 Ovarian(93;0.0569) CCGACCTGAAGGACAAAAGTC 0.294 NA G||| 398 0.0794728 0.0061 0.0432 5008 , , NA 13324 0.1944 NA 0.0258 False NA ,,, NA NA NA 2504 0.1411 NA NA NA Melanoma(83;700 1353 9357 11478 30548) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF132953 CCDS4508.1 6p24.3 2013-07-17 2013-07-17 2003-09-10 ENSG00000124786 ENSG00000124786 51000 Solute carriers 21601 protein-coding gene gene with protein product 3' phosphoadenosine 5' phosphosulfate transporter 2 610845 chromosome 6 open reading frame 196, solute carrier family 35, member B3 C6orf196 NA 10810093 Standard NM_015948 XM_005249156 NA Approved CGI-19, dJ453H5.1, PAPST2 uc010joe.3 Q9H1N7 OTTHUMG00000014224 ENST00000379660.4:c.3+126C>G chr6.hg19:g.8434491G>C NA A6NKX9|Q1XH11|Q6MZJ0|Q7Z662|Q9Y308 hg19 CCDS4508.1 0.02 3.786577 GAAxGAC COVERED NOVEL SLC35B3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000039802.1 2 6.018684 KEEP 0 0 0 20 672 GG 0.999863 0.999863 0 - 7 60 256 0 0 16.721955 140 60 5263 168 ENST00000379660.4 0.047619 1 SLC35B3 51000 __UNKNOWN__ __UNKNOWN__ 6 8434541 8434541 __UNKNOWN__ Intron SNP A A C rs78779941 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:8434541A>C ENST00000379660.4 - 2 453 SLC35B3_ENST00000426876.1_Intron|SLC35B3_ENST00000339306.5_Intron NM_001142540.1|NM_001142541.1|NM_015948.3 NP_001136012.1|NP_001136013.1|NP_057032.2 Q9H1N7 S35B3_HUMAN solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B3 NA NA 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805) Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(1)|prostate(1) 15 Ovarian(93;0.0569) AAAAGTCATTACGGTGTCATT 0.323 NA A||| 86 0.0171725 0.0 0.0346 5008 , , NA 13495 0.0546 NA 0.005 False NA ,,, NA NA NA 2504 0.002 NA NA NA Melanoma(83;700 1353 9357 11478 30548) NA 0 160 132 141 NA NA 6 NA 8434541 692 1591 2283 SO:0001627 intron_variant AF132953 CCDS4508.1 6p24.3 2013-07-17 2013-07-17 2003-09-10 ENSG00000124786 ENSG00000124786 51000 Solute carriers 21601 protein-coding gene gene with protein product 3' phosphoadenosine 5' phosphosulfate transporter 2 610845 chromosome 6 open reading frame 196, solute carrier family 35, member B3 C6orf196 NA 10810093 Standard NM_015948 XM_005249156 NA Approved CGI-19, dJ453H5.1, PAPST2 uc010joe.3 Q9H1N7 OTTHUMG00000014224 ENST00000379660.4:c.3+76T>G chr6.hg19:g.8434541A>C NA A6NKX9|Q1XH11|Q6MZJ0|Q7Z662|Q9Y308 hg19 CCDS4508.1 0.02 15.766479 ATTxCGG COVERED NOVEL SLC35B3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000039802.1 2 21.660491 KEEP 0 0 0 72 2175 AA 1 1 0 - 14 60 515 0 0 32.509946 345 60 12077 465 ENST00000379660.4 0.038997 1 TFAP2A 7020 __UNKNOWN__ __UNKNOWN__ 6 10398982 10398982 __UNKNOWN__ Intron SNP A A T rs303048 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:10398982A>T ENST00000482890.1 - 8 1378 TFAP2A_ENST00000319516.4_Intron|TFAP2A_ENST00000497266.1_Intron|TFAP2A_ENST00000379613.3_Intron|TFAP2A_ENST00000379608.3_Intron|TFAP2A_ENST00000379604.2_Intron P05549 AP2A_HUMAN transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) NA NA anterior neuropore closure (GO:0021506)|basement membrane organization (GO:0071711)|bone morphogenesis (GO:0060349)|cellular response to iron ion (GO:0071281)|cornea development in camera-type eye (GO:0061303)|embryonic body morphogenesis (GO:0010172)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|embryonic pattern specification (GO:0009880)|epidermis morphogenesis (GO:0048730)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|keratinocyte development (GO:0003334)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|oculomotor nerve formation (GO:0021623)|optic cup structural organization (GO:0003409)|optic vesicle morphogenesis (GO:0003404)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell differentiation (GO:0045595)|regulation of neuron differentiation (GO:0045664)|retina layer formation (GO:0010842)|sensory perception of sound (GO:0007605)|sympathetic nervous system development (GO:0048485)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559) centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634) chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976) breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 13 Breast(50;0.0427)|Ovarian(93;0.0991) all_hematologic(90;0.107) AGGCTCCACTATGGGCAGCAC 0.567 NA T||| 1650 0.329473 0.7398 0.2277 5008 , , NA 16459 0.2728 NA 0.1441 False NA ,,, NA NA NA 2504 0.0961 NA NA NA NA 0 T ,, 2891,1515 470.4+/-355.7 947,997,259 40 45 44 ,, -2.4 0 6 dbSNP_79 44 1306,7294 752.8+/-407.4 93,1120,3087 no intron,intron,intron TFAP2A NM_001032280.2,NM_001042425.1,NM_003220.2 ,, 1040,2117,3346 TT,TA,AA 15.186,34.3849,32.2697 ,, ,, 10398982 4197,8809 2203 4300 6503 SO:0001627 intron_variant X52611 CCDS4510.1, CCDS34337.1, CCDS43422.1 6p24.3 2013-09-19 2001-11-28 ENSG00000137203 ENSG00000137203 7020 11742 protein-coding gene gene with protein product 107580 transcription factor AP-2 alpha (activating enhancer-binding protein 2 alpha) TFAP2, AP2TF NA 1916817, 3063603 Standard NM_003220 NM_001032280 NA Approved AP-2 uc003myr.3 P05549 OTTHUMG00000014235 ENST00000482890.1:c.1026-44T>A chr6.hg19:g.10398982A>T NA Q13777|Q5TAV5|Q8N1C6 hg19 CCDS4510.1 0.02 1.587329 ACTxTGG COVERED NOVEL TFAP2A-007 KNOWN not_organism_supported|basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000353619.2 1 2.406951 KEEP 0 0 0 8 239 AA 0.99257 0.991794 0 - 4 60 139 0 0 8.915026 76 60 2757 94 ENST00000482890.1 0.05 0.999218 TFAP2A 7020 __UNKNOWN__ __UNKNOWN__ 6 10413057 10413057 __UNKNOWN__ Intron SNP T T C rs6456450 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:10413057T>C ENST00000482890.1 - 2 398 TFAP2A-AS1_ENST00000420777.1_RNA|TFAP2A_ENST00000319516.4_Intron|TFAP2A_ENST00000379613.3_Intron|TFAP2A_ENST00000379604.2_Intron P05549 AP2A_HUMAN transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) NA NA anterior neuropore closure (GO:0021506)|basement membrane organization (GO:0071711)|bone morphogenesis (GO:0060349)|cellular response to iron ion (GO:0071281)|cornea development in camera-type eye (GO:0061303)|embryonic body morphogenesis (GO:0010172)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|embryonic pattern specification (GO:0009880)|epidermis morphogenesis (GO:0048730)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|keratinocyte development (GO:0003334)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|oculomotor nerve formation (GO:0021623)|optic cup structural organization (GO:0003409)|optic vesicle morphogenesis (GO:0003404)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell differentiation (GO:0045595)|regulation of neuron differentiation (GO:0045664)|retina layer formation (GO:0010842)|sensory perception of sound (GO:0007605)|sympathetic nervous system development (GO:0048485)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559) centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634) chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976) breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 13 Breast(50;0.0427)|Ovarian(93;0.0991) all_hematologic(90;0.107) GCTGCACTGGTCCTCTCCTCG 0.736 NA C||| 580 0.115815 0.1717 0.0994 5008 , , NA 8337 0.249 NA 0.0189 False NA ,,, NA NA NA 2504 0.0143 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X52611 CCDS4510.1, CCDS34337.1, CCDS43422.1 6p24.3 2013-09-19 2001-11-28 ENSG00000137203 ENSG00000137203 7020 11742 protein-coding gene gene with protein product 107580 transcription factor AP-2 alpha (activating enhancer-binding protein 2 alpha) TFAP2, AP2TF NA 1916817, 3063603 Standard NM_003220 NM_001032280 NA Approved AP-2 uc003myr.3 P05549 OTTHUMG00000014235 ENST00000482890.1:c.45+2116A>G chr6.hg19:g.10413057T>C NA Q13777|Q5TAV5|Q8N1C6 hg19 CCDS4510.1 0.02 -0.421027 TGGxCCT COVERED NOVEL TFAP2A-007 KNOWN not_organism_supported|basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000353619.2 0 5.115497 KEEP 0 0 0 17 532 TT 0.999366 0.947801 0 - 3 60 113 0 0 7.859328 45 60 1566 83 ENST00000482890.1 0.0625 0.948402 GCNT6 644378 __UNKNOWN__ __UNKNOWN__ 6 10634169 10634169 __UNKNOWN__ Silent SNP G G A rs75965483 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:10634169G>A ENST00000417671.1 + 1 177 c.177G>A c.(175-177)acG>acA p.T59T Q5T4J0 GCNT6_HUMAN glucosaminyl (N-acetyl) transferase 6 59 NA protein glycosylation (GO:0006486) Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) acetylglucosaminyltransferase activity (GO:0008375) breast(1) 1 ATGGGAAGACGGTGCAAGTAT 0.453 NA G||| 17 0.00339457 0.0 0.0 5008 , , NA 20659 0.0169 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001819 synonymous_variant 6p24.2 2013-02-25 ENSG00000205318 ENSG00000205318 644378 Glucosaminyl (N-acetyl) transferase and xylosyltransferase family 21623 protein-coding gene gene with protein product NA Standard NA Approved bA421M1.3 Q5T4J0 OTTHUMG00000014243 ENST00000417671.1:c.177G>A chr6.hg19:g.10634169G>A NA hg19 0.02 17.289559 GACxGTG COVERED NOVEL GCNT6-201 KNOWN basic|appris_principal protein_coding NA protein_coding 1 14.447007 KEEP 0 0 0 48 1688 GG 1 1 0 + 18 60 655 0 0 41.576133 416 60 14393 586 ENST00000417671.1 0.041475 1 TMEM14C 51522 __UNKNOWN__ __UNKNOWN__ 6 10724943 10724943 __UNKNOWN__ Intron SNP T T C rs4711068 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:10724943T>C ENST00000541412.1 + 2 405 TMEM14C_ENST00000229563.5_Intron|TMEM14C_ENST00000467415.1_Intron NM_001165258.1 NP_001158730.1 Q9P0S9 TM14C_HUMAN transmembrane protein 14C NA NA heme biosynthetic process (GO:0006783) integral component of membrane (GO:0016021)|mitochondrion (GO:0005739) large_intestine(2)|lung(3) 5 Ovarian(93;0.107)|Breast(50;0.137) all_hematologic(90;0.135) Epithelial(50;0.246) GAAAAGAACCTTAAGAGTAGA 0.512 NA C||| 2430 0.485224 0.2088 0.5288 5008 , , NA 21041 0.5278 NA 0.6113 False NA ,,, NA NA NA 2504 0.6544 NA NA NA NA 0 C , 373,1011 45,283,364 38 37 37 , 1 0 6 dbSNP_111 37 2016,1166 656,704,231 no intron,intron TMEM14C NM_001165258.1,NM_016462.3 , 701,987,595 CC,CT,TT 36.6436,26.9509,47.6785 , , 10724943 2389,2177 692 1591 2283 SO:0001627 intron_variant AF151028 CCDS4514.1 6p24.1 2008-02-26 2004-04-16 2004-04-21 ENSG00000111843 ENSG00000111843 51522 20952 protein-coding gene gene with protein product 615318 chromosome 6 open reading frame 53 C6orf53 NA 11042152, 12958361 Standard NM_016462 NM_016462 NA Approved HSPC194, bA421M1.6, NET26 uc021ylj.1 Q9P0S9 OTTHUMG00000014242 ENST00000541412.1:c.20+77T>C chr6.hg19:g.10724943T>C NA Q5T4I6 hg19 CCDS4514.1 0.02 7.258772 ACCxTAA COVERED NOVEL TMEM14C-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000039829.1 2 6.318405 KEEP 0 0 0 21 665 TT 0.999869 0.999869 0 + 12 60 432 0 0 30.422742 148 60 5327 187 ENST00000541412.1 0.075 1 TMEM14C 51522 __UNKNOWN__ __UNKNOWN__ 6 10729020 10729020 __UNKNOWN__ Intron SNP C C T rs2153073 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:10729020C>T ENST00000541412.1 + 5 672 TMEM14C_ENST00000229563.5_Intron|TMEM14C_ENST00000467415.1_Intron NM_001165258.1 NP_001158730.1 Q9P0S9 TM14C_HUMAN transmembrane protein 14C NA NA heme biosynthetic process (GO:0006783) integral component of membrane (GO:0016021)|mitochondrion (GO:0005739) large_intestine(2)|lung(3) 5 Ovarian(93;0.107)|Breast(50;0.137) all_hematologic(90;0.135) Epithelial(50;0.246) CCCAGGATACCTTATGCATTC 0.348 NA T||| 2427 0.484625 0.2088 0.5274 5008 , , NA 20150 0.5278 NA 0.6113 False NA ,,, NA NA NA 2504 0.6524 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF151028 CCDS4514.1 6p24.1 2008-02-26 2004-04-16 2004-04-21 ENSG00000111843 ENSG00000111843 51522 20952 protein-coding gene gene with protein product 615318 chromosome 6 open reading frame 53 C6orf53 NA 11042152, 12958361 Standard NM_016462 NM_016462 NA Approved HSPC194, bA421M1.6, NET26 uc021ylj.1 Q9P0S9 OTTHUMG00000014242 ENST00000541412.1:c.287+60C>T chr6.hg19:g.10729020C>T NA Q5T4I6 hg19 CCDS4514.1 0.02 9.353429 TACxTTA COVERED NOVEL TMEM14C-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000039829.1 1 13.845531 KEEP 0 0 0 46 1656 CC 1 1 0 + 15 60 542 0 0 37.04873 224 60 8449 349 ENST00000541412.1 0.062762 1 TMEM14C 51522 __UNKNOWN__ __UNKNOWN__ 6 10731218 10731218 __UNKNOWN__ 3'UTR SNP C C T rs7113 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:10731218C>T ENST00000541412.1 + 0 1043 TMEM14C_ENST00000229563.5_3'UTR|TMEM14C_ENST00000467415.1_3'UTR NM_001165258.1 NP_001158730.1 Q9P0S9 TM14C_HUMAN transmembrane protein 14C NA NA heme biosynthetic process (GO:0006783) integral component of membrane (GO:0016021)|mitochondrion (GO:0005739) large_intestine(2)|lung(3) 5 Ovarian(93;0.107)|Breast(50;0.137) all_hematologic(90;0.135) Epithelial(50;0.246) TCTGAAACCCCATTCCCTGCT 0.368 NA C||| 2256 0.450479 0.0923 0.5216 5008 , , NA 17787 0.5278 NA 0.6103 False NA ,,, NA NA NA 2504 0.6401 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF151028 CCDS4514.1 6p24.1 2008-02-26 2004-04-16 2004-04-21 ENSG00000111843 ENSG00000111843 51522 20952 protein-coding gene gene with protein product 615318 chromosome 6 open reading frame 53 C6orf53 NA 11042152, 12958361 Standard NM_016462 NM_016462 NA Approved HSPC194, bA421M1.6, NET26 uc021ylj.1 Q9P0S9 OTTHUMG00000014242 ENST00000541412.1:c.*319C>T chr6.hg19:g.10731218C>T NA Q5T4I6 hg19 CCDS4514.1 0.02 8.577926 CCCxATT COVERED NOVEL TMEM14C-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000039829.1 4 10.971197 KEEP 0 1 33 48 1706 CC 1 1 0 + 13 60 482 0 0 32.831827 212 60 8033 332 ENST00000541412.1 0.057778 1 TMEM14B 81853 __UNKNOWN__ __UNKNOWN__ 6 10756728 10756728 __UNKNOWN__ Missense_Mutation SNP C C T rs72821581 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:10756728C>T ENST00000379542.5 + 6 489 c.322C>T c.(322-324)Cgt>Tgt p.R108C RP11-637O19.3_ENST00000480294.1_Intron|TMEM14B_ENST00000473276.1_Missense_Mutation_p.S48L|TMEM14B_ENST00000379530.3_Missense_Mutation_p.R74C|TMEM14B_ENST00000467317.1_Intron|TMEM14B_ENST00000481240.1_Intron|TMEM14B_ENST00000491103.1_3'UTR|SYCP2L_ENST00000543878.1_Intron NM_030969.3 NP_112231.3 Q9NUH8 TM14B_HUMAN transmembrane protein 14B 108 NA integral component of membrane (GO:0016021) p.R108C(4) NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(2)|skin(2) 11 Ovarian(93;0.107)|Breast(50;0.137) all_hematologic(90;0.135) AGTTGGAGTTCGTATGTTGAT 0.358 NA NA NA NA NA NA NA NA NA NA NA 4 Substitution - Missense(4) skin(2)|NS(1)|prostate(1) 162 139 147 NA NA 6 NA 10756728 2203 4300 6503 SO:0001583 missense AL024498 CCDS4515.1, CCDS47372.1, CCDS75395.1, CCDS75396.1, CCDS75397.1 6p25.1-p23 2008-08-12 ENSG00000137210 ENSG00000137210 81853 21384 protein-coding gene gene with protein product NA Standard NM_030969 NM_030969 NA Approved MGC1223 uc003mzk.4 Q9NUH8 OTTHUMG00000014246 ENST00000379542.5:c.322C>T chr6.hg19:g.10756728C>T ENSP00000368858:p.Arg108Cys NA Q5THN7|Q5THN8|Q96IX7|Q9BVN8 hg19 CCDS4515.1 0.02 8.092564 GTTxGTA COVERED .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 5.745|5.745 0.321925|0.321925 0.10900|0.10900 .|. .|. ENSG00000137210|ENSG00000137210 ENST00000472062;ENST00000379542;ENST00000379530|ENST00000473276 T;T|T 0.26660|0.56941 2.12;1.72|0.43 3.75|3.75 1.3|1.3 0.21679|0.21679 .|. 0.473115|. 0.27366|. N|. 0.019688|. T|T 0.39517|0.39517 0.1081|0.1081 L|L 0.57536|0.57536 1.79|1.79 0.09310|0.09310 N|N 1|1 P;P|. 0.49635|. 0.926;0.917|. B;B|. 0.42653|. 0.226;0.394|. T|T 0.36359|0.36359 -0.9751|-0.9751 10|7 0.56958|0.87932 D|D 0.05|0 .|. 9.9351|9.9351 0.41545|0.41545 0.4256:0.5744:0.0:0.0|0.4256:0.5744:0.0:0.0 .|. 74;108|. Q5THN7;Q9NUH8|. .;TM14B_HUMAN|. C|L 108;108;74|48 ENSP00000368858:R108C;ENSP00000368845:R74C|ENSP00000420580:S48L ENSP00000368845:R74C|ENSP00000420580:S48L R|S +|+ 1|2 0|0 TMEM14B|TMEM14B 10864714|10864714 0.007000|0.007000 0.16637|0.16637 0.210000|0.210000 0.23637|0.23637 0.087000|0.087000 0.18053|0.18053 1.323000|1.323000 0.33701|0.33701 0.291000|0.291000 0.22468|0.22468 -1.051000|-1.051000 0.02340|0.02340 CGT|TCG NOVEL TMEM14B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000039836.1 1 9.263798 KEEP 0 1 29 41 1393 CC 1 1 0 + 7 60 257 0 0 15.373005 228 60 7981 344 ENST00000379542.5 0.029787 1 SYCP2L 221711 __UNKNOWN__ __UNKNOWN__ 6 10894287 10894287 __UNKNOWN__ Intron SNP A A T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:10894287A>T ENST00000283141.6 + 4 512 RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron NM_001040274.2 NP_001035364.2 Q5T4T6 SYC2L_HUMAN synaptonemal complex protein 2-like NA NA nucleus (GO:0005634) breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 36 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) Epithelial(50;0.239) ATTATTTATAAGTGTTTTAAC 0.313 NA NA NA NA NA NA NA NA NA NA NA 0 48 48 48 NA NA 6 NA 10894287 1795 4071 5866 SO:0001627 intron_variant AK128130 CCDS43423.1 6p24.2 2008-11-06 2007-07-02 2007-07-02 ENSG00000153157 ENSG00000153157 221711 21537 protein-coding gene gene with protein product chromosome 6 open reading frame 177 C6orf177 NA Standard NM_194299 NM_001040274 NA Approved dJ62D2.1, NO145 uc003mzo.3 Q5T4T6 OTTHUMG00000014250 ENST00000283141.6:c.217-31A>T chr6.hg19:g.10894287A>T NA A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2 hg19 CCDS43423.1 0.02 11.284262 ATAxGTG COVERED NOVEL SYCP2L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000039845.3 0 8.425739 KEEP 0 0 0 28 897 AA 0.999997 0.999997 0 + 8 60 305 0 0 18.848423 249 60 9082 312 ENST00000283141.6 0.031128 1 ERVFRD-1 405754 __UNKNOWN__ __UNKNOWN__ 6 11105763 11105763 __UNKNOWN__ 5'UTR SNP C C T rs76843344 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:11105763C>T ENST00000472091.1 - 0 156 ERVFRD-1_ENST00000542862.1_5'UTR|SMIM13_ENST00000416247.2_Intron NM_207582.2 NP_997465.1 P60508 SYCY2_HUMAN endogenous retrovirus group FRD, member 1 NA NA syncytium formation (GO:0006949) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|viral envelope (GO:0019031) breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(4)|stomach(1) 15 aagtgtattccggagctgagg 0.458 NA C||| 1028 0.205272 0.0083 0.2939 5008 , , NA 19681 0.3353 NA 0.16 False NA ,,, NA NA NA 2504 0.3211 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AK075092, AK123938, AY358244 CCDS4519.1 6p24.2 2014-05-02 ENSG00000244476 ENSG00000244476 405754 33823 other endogenous retrovirus 610524 NA 12970426, 14557543, 15476554, 21542922 Standard NM_207582 NM_207582 NA Approved HERV-W/FRD, HERV-FRD, envFRD, ERVFRDE1, syncytin-2 uc003mzt.3 P60508 OTTHUMG00000159193 ENST00000472091.1:c.-220G>A chr6.hg19:g.11105763C>T NA hg19 CCDS4519.1 0.02 1.874193 TTCxGGA COVERED NOVEL ERVFRD-1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000353776.1 0 3.009125 KEEP 0 0 0 10 322 CC 0.992708 0.989456 0 - 4 60 139 0 0 9.153815 66 60 2284 87 ENST00000472091.1 0.057143 0.996724 SMIM13 221710 __UNKNOWN__ __UNKNOWN__ 6 11138038 11138038 __UNKNOWN__ 3'UTR SNP A A G rs3734399 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:11138038A>G ENST00000416247.2 + 0 3760 NM_001135575.1 NP_001129047.1 P0DJ93 SIM13_HUMAN small integral membrane protein 13 NA NA integral component of membrane (GO:0016021) NA CAAAATGAATATAAAATTCAC 0.353 NA A||| 1059 0.211462 0.0121 0.2939 5008 , , NA 18076 0.3562 NA 0.161 False NA ,,, NA NA NA 2504 0.3252 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS56396.1 6p24.2 2012-12-03 2012-12-03 2012-12-03 ENSG00000224531 ENSG00000224531 221710 27356 protein-coding gene gene with protein product chromosome 6 open reading frame 228 C6orf228 NA Standard NM_001135575 NM_001135575 NA Approved uc011dio.2 P0DJ93 OTTHUMG00000014253 ENST00000416247.2:c.*3203A>G chr6.hg19:g.11138038A>G NA G3V581 hg19 CCDS56396.1 0.02 4.634581 AATxTAA COVERED NOVEL SMIM13-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000039851.3 1 9.627227 KEEP 0 0 0 32 964 AA 0.999997 0.999997 0 + 14 60 527 0 0 40.093711 116 60 4200 178 ENST00000416247.2 0.107692 1 NEDD9 4739 __UNKNOWN__ __UNKNOWN__ 6 11185533 11185533 __UNKNOWN__ Silent SNP G G A rs1050775 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:11185533G>A ENST00000379446.5 - 7 2533 c.2367C>T c.(2365-2367)acC>acT p.T789T NEDD9_ENST00000504387.1_Silent_p.T789T|RP3-510L9.1_ENST00000500636.2_RNA NM_001271033.1|NM_006403.3 NP_001257962.1|NP_006394.1 Q14511 CASL_HUMAN neural precursor cell expressed, developmentally down-regulated 9 789 NA actin filament bundle assembly (GO:0051017)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|integrin-mediated signaling pathway (GO:0007229)|mitotic nuclear division (GO:0007067)|regulation of growth (GO:0040008)|signal transduction (GO:0007165) cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle pole (GO:0000922) p.T789T(1) endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 Breast(50;0.0768)|Ovarian(93;0.152) all_hematologic(90;0.135) Epithelial(50;0.0647)|all cancers(50;0.179) CCATGACTATGGTCTTGAGCT 0.557 NA A||| 2464 0.492013 0.6452 0.4236 5008 , , NA 17248 0.3492 NA 0.5477 False NA ,,, NA NA NA 2504 0.4233 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) A , 2778,1628 500.5+/-364.7 870,1038,295 193 170 178 2367,2367 -11.6 0 6 dbSNP_86 178 4595,4005 554.3+/-386.5 1241,2113,946 no coding-synonymous,coding-synonymous NEDD9 NM_001142393.1,NM_006403.3 , 2111,3151,1241 AA,AG,GG 46.5698,36.9496,43.3108 , 789/835,789/835 11185533 7373,5633 2203 4300 6503 SO:0001819 synonymous_variant L43821 CCDS4520.1, CCDS34340.1, CCDS47373.1, CCDS75400.1 6p25-p24 2011-04-13 ENSG00000111859 ENSG00000111859 4739 Cas scaffolding proteins 7733 protein-coding gene gene with protein product Cas scaffolding protein family member 2, Cas-like 602265 NA Standard NM_006403 NM_182966 NA Approved HEF1, CAS-L, CASS2 uc003mzv.2 Q14511 OTTHUMG00000014255 ENST00000379446.5:c.2367C>T chr6.hg19:g.11185533G>A NA A8K9G7|A8MSJ9|G5E9Y9|Q5T9R4|Q5XKI0 hg19 CCDS4520.1 0.02 14.151692 TATxGTC COVERED NOVEL NEDD9-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000039853.2 1 4.683374 KEEP 0 2 61 37 1265 GG 1 1 0 - 14 60 496 0 0 30.577402 347 60 12659 422 ENST00000379446.5 0.038781 1 NEDD9 4739 __UNKNOWN__ __UNKNOWN__ 6 11198763 11198763 __UNKNOWN__ Intron SNP T T C rs9393968 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:11198763T>C ENST00000379446.5 - 3 626 NEDD9_ENST00000504387.1_Intron|NEDD9_ENST00000379433.5_3'UTR|RP3-510L9.1_ENST00000500636.2_RNA NM_001271033.1|NM_006403.3 NP_001257962.1|NP_006394.1 Q14511 CASL_HUMAN neural precursor cell expressed, developmentally down-regulated 9 NA NA actin filament bundle assembly (GO:0051017)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|integrin-mediated signaling pathway (GO:0007229)|mitotic nuclear division (GO:0007067)|regulation of growth (GO:0040008)|signal transduction (GO:0007165) cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle pole (GO:0000922) endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 Breast(50;0.0768)|Ovarian(93;0.152) all_hematologic(90;0.135) Epithelial(50;0.0647)|all cancers(50;0.179) cccaaacagataatatgtctc 0.443 NA T||| 1590 0.317492 0.2458 0.3415 5008 , , NA 21671 0.3601 NA 0.339 False NA ,,, NA NA NA 2504 0.3313 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L43821 CCDS4520.1, CCDS34340.1, CCDS47373.1, CCDS75400.1 6p25-p24 2011-04-13 ENSG00000111859 ENSG00000111859 4739 Cas scaffolding proteins 7733 protein-coding gene gene with protein product Cas scaffolding protein family member 2, Cas-like 602265 NA Standard NM_006403 NM_182966 NA Approved HEF1, CAS-L, CASS2 uc003mzv.2 Q14511 OTTHUMG00000014255 ENST00000379446.5:c.460-4838A>G chr6.hg19:g.11198763T>C NA A8K9G7|A8MSJ9|G5E9Y9|Q5T9R4|Q5XKI0 hg19 CCDS4520.1 0.02 6.903365 AGAxAAT COVERED NOVEL NEDD9-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000039853.2 3 5.750527 KEEP 0 1 37 32 961 TT 0.999998 0.999998 0 - 10 60 380 0 0 26.672289 145 60 5200 219 ENST00000379446.5 0.064516 1 NEDD9 4739 __UNKNOWN__ __UNKNOWN__ 6 11214943 11214943 __UNKNOWN__ Intron SNP G G A rs376727828 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:11214943G>A ENST00000379446.5 - 2 179 NEDD9_ENST00000504387.1_Intron|NEDD9_ENST00000379433.5_Intron|RP3-510L9.1_ENST00000500636.2_RNA NM_001271033.1|NM_006403.3 NP_001257962.1|NP_006394.1 Q14511 CASL_HUMAN neural precursor cell expressed, developmentally down-regulated 9 NA NA actin filament bundle assembly (GO:0051017)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|integrin-mediated signaling pathway (GO:0007229)|mitotic nuclear division (GO:0007067)|regulation of growth (GO:0040008)|signal transduction (GO:0007165) cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle pole (GO:0000922) endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 Breast(50;0.0768)|Ovarian(93;0.152) all_hematologic(90;0.135) Epithelial(50;0.0647)|all cancers(50;0.179) CCCAGCACGCGGGCAGCCATT 0.532 NA g||| 1 0.000199681 0.0 0.0 5008 , , NA 18986 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L43821 CCDS4520.1, CCDS34340.1, CCDS47373.1, CCDS75400.1 6p25-p24 2011-04-13 ENSG00000111859 ENSG00000111859 4739 Cas scaffolding proteins 7733 protein-coding gene gene with protein product Cas scaffolding protein family member 2, Cas-like 602265 NA Standard NM_006403 NM_182966 NA Approved HEF1, CAS-L, CASS2 uc003mzv.2 Q14511 OTTHUMG00000014255 ENST00000379446.5:c.13-983C>T chr6.hg19:g.11214943G>A NA A8K9G7|A8MSJ9|G5E9Y9|Q5T9R4|Q5XKI0 hg19 CCDS4520.1 0.02 6.703928 CGCxGGC COVERED NOVEL NEDD9-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000039853.2 1 6.609278 KEEP 0 0 0 22 675 GG 0.999879 0.999879 0 - 7 60 265 0 0 17.457265 148 60 4825 185 ENST00000379446.5 0.045161 1 NEDD9 4739 __UNKNOWN__ __UNKNOWN__ 6 11232684 11232684 __UNKNOWN__ Intron SNP C C T rs2296567 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:11232684C>T ENST00000379446.5 - 1 179 NEDD9_ENST00000504387.1_Intron|NEDD9_ENST00000379433.5_Intron|RP3-510L9.1_ENST00000500636.2_RNA NM_001271033.1|NM_006403.3 NP_001257962.1|NP_006394.1 Q14511 CASL_HUMAN neural precursor cell expressed, developmentally down-regulated 9 NA NA actin filament bundle assembly (GO:0051017)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|integrin-mediated signaling pathway (GO:0007229)|mitotic nuclear division (GO:0007067)|regulation of growth (GO:0040008)|signal transduction (GO:0007165) cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle pole (GO:0000922) endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 Breast(50;0.0768)|Ovarian(93;0.152) all_hematologic(90;0.135) Epithelial(50;0.0647)|all cancers(50;0.179) AAGCACACACCCGCAGGCACA 0.502 NA C||| 84 0.0167732 0.0008 0.0677 5008 , , NA 20577 0.0139 NA 0.0 False NA ,,, NA NA NA 2504 0.0225 NA NA NA NA 0 C ,, 1,1383 0,1,691 131 123 125 ,, -8.8 0 6 dbSNP_100 125 0,3182 0,0,1591 no intron,intron,intron NEDD9 NM_001142393.1,NM_006403.3,NM_182966.3 ,, 0,1,2282 TT,TC,CC 0.0,0.0723,0.0219 ,, ,, 11232684 1,4565 692 1591 2283 SO:0001627 intron_variant L43821 CCDS4520.1, CCDS34340.1, CCDS47373.1, CCDS75400.1 6p25-p24 2011-04-13 ENSG00000111859 ENSG00000111859 4739 Cas scaffolding proteins 7733 protein-coding gene gene with protein product Cas scaffolding protein family member 2, Cas-like 602265 NA Standard NM_006403 NM_182966 NA Approved HEF1, CAS-L, CASS2 uc003mzv.2 Q14511 OTTHUMG00000014255 ENST00000379446.5:c.12+52G>A chr6.hg19:g.11232684C>T NA A8K9G7|A8MSJ9|G5E9Y9|Q5T9R4|Q5XKI0 hg19 CCDS4520.1 0.02 12.439059 CACxCGC COVERED NOVEL NEDD9-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000039853.2 3 55.681868 KEEP 0 0 0 185 6582 CC 1 1 0 - 12 60 434 0 0 26.962864 305 60 11305 656 ENST00000379446.5 0.037855 1 ADTRP 84830 __UNKNOWN__ __UNKNOWN__ 6 11735768 11735768 __UNKNOWN__ Intron SNP A A G rs2281127 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:11735768A>G ENST00000414691.3 - 4 917 ADTRP_ENST00000229583.5_Intron|ADTRP_ENST00000514824.1_Intron|ADTRP_ENST00000379413.2_Intron NM_032744.3 NP_116133.1 Q96IZ2 ADTRP_HUMAN androgen-dependent TFPI-regulating protein NA NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) NA TTGAACGACAAGCCTAAGTTG 0.423 NA A||| 785 0.156749 0.0658 0.0418 5008 , , NA 22817 0.4871 NA 0.0368 False NA ,,, NA NA NA 2504 0.1442 NA NA NA NA 0 A , 281,4125 137.7+/-173.5 8,265,1930 42 37 39 , 1.7 0 6 dbSNP_100 39 220,8380 81.2+/-143.8 2,216,4082 no intron,intron C6orf105 NM_001143948.1,NM_032744.3 , 10,481,6012 GG,GA,AA 2.5581,6.3777,3.8521 , , 11735768 501,12505 2203 4300 6503 SO:0001627 intron_variant AJ420520 CCDS4521.1, CCDS47374.1 6p24.1 2012-01-30 2012-01-27 2012-01-27 ENSG00000111863 ENSG00000111863 84830 21214 protein-coding gene gene with protein product androgen-induced 1-like 614348 chromosome 6 open reading frame 105 C6orf105 NA 21868574 Standard NM_032744 NM_032744 NA Approved dJ413H6.1, AIG1L uc011dip.2 Q96IZ2 OTTHUMG00000014260 ENST00000414691.3:c.506+32T>C chr6.hg19:g.11735768A>G NA B2R7T9|B4DV39|Q5THW1 hg19 CCDS4521.1 0.02 14.709877 ACAxGCC COVERED NOVEL ADTRP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000039864.3 3 17.153263 KEEP 0 0 0 57 1851 AA 1 1 0 - 10 60 370 0 0 21.734603 367 60 13604 549 ENST00000414691.3 0.026525 1 ADTRP 84830 __UNKNOWN__ __UNKNOWN__ 6 11768482 11768482 __UNKNOWN__ Splice_Site SNP C C T rs138175677 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:11768482C>T ENST00000414691.3 - 2 698 c.288G>A c.(286-288)acG>acA p.T96T ADTRP_ENST00000229583.5_Splice_Site_p.T114T|ADTRP_ENST00000379413.2_Splice_Site_p.T96T NM_032744.3 NP_116133.1 Q96IZ2 ADTRP_HUMAN androgen-dependent TFPI-regulating protein 96 NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) NA TGAAACTTACCGTGGATACAG 0.448 NA C||| 5 0.000998403 0.0 0.0014 5008 , , NA 22493 0.004 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 C , 3,4403 6.2+/-15.9 0,3,2200 149 140 143 342,288 -1 1 6 dbSNP_134 143 22,8578 16.6+/-54.9 0,22,4278 yes coding-synonymous-near-splice,coding-synonymous-near-splice C6orf105 NM_001143948.1,NM_032744.3 , 0,25,6478 TT,TC,CC 0.2558,0.0681,0.1922 , 114/249,96/231 11768482 25,12981 2203 4300 6503 SO:0001630 splice_region_variant AJ420520 CCDS4521.1, CCDS47374.1 6p24.1 2012-01-30 2012-01-27 2012-01-27 ENSG00000111863 ENSG00000111863 84830 21214 protein-coding gene gene with protein product androgen-induced 1-like 614348 chromosome 6 open reading frame 105 C6orf105 NA 21868574 Standard NM_032744 NM_032744 NA Approved dJ413H6.1, AIG1L uc011dip.2 Q96IZ2 OTTHUMG00000014260 ENST00000414691.3:c.288+1G>A chr6.hg19:g.11768482C>T NA B2R7T9|B4DV39|Q5THW1 hg19 CCDS4521.1 0.02 8.149052 TACxGTG COVERED NOVEL ADTRP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000039864.3 1 20.465007 KEEP 0 0 0 68 2293 CC 1 1 0 Silent - 8 60 291 0 0 18.047795 209 60 7345 330 ENST00000414691.3 0.036866 1 ADTRP 84830 __UNKNOWN__ __UNKNOWN__ 6 11770103 11770103 __UNKNOWN__ Intron SNP C C A rs9380513 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:11770103C>A ENST00000414691.3 - 2 564 ADTRP_ENST00000229583.5_Intron|ADTRP_ENST00000379413.2_Intron NM_032744.3 NP_116133.1 Q96IZ2 ADTRP_HUMAN androgen-dependent TFPI-regulating protein NA NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) NA CAAGTTTAGCCCTCAAAAATC 0.323 NA A||| 1013 0.202276 0.1225 0.1182 5008 , , NA 15497 0.4841 NA 0.1302 False NA ,,, NA NA NA 2504 0.1534 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ420520 CCDS4521.1, CCDS47374.1 6p24.1 2012-01-30 2012-01-27 2012-01-27 ENSG00000111863 ENSG00000111863 84830 21214 protein-coding gene gene with protein product androgen-induced 1-like 614348 chromosome 6 open reading frame 105 C6orf105 NA 21868574 Standard NM_032744 NM_032744 NA Approved dJ413H6.1, AIG1L uc011dip.2 Q96IZ2 OTTHUMG00000014260 ENST00000414691.3:c.154-1487G>T chr6.hg19:g.11770103C>A NA B2R7T9|B4DV39|Q5THW1 hg19 CCDS4521.1 0.02 4.539956 AGCxCTC COVERED NOVEL ADTRP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000039864.3 0 6.55424 KEEP 0 1 26 31 1055 CC 0.999997 0.999995 0 - 10 60 370 0 0 26.902211 108 60 3887 164 ENST00000414691.3 0.084746 0.999998 ADTRP 84830 __UNKNOWN__ __UNKNOWN__ 6 11770114 11770114 __UNKNOWN__ Intron SNP T T G rs9394302 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:11770114T>G ENST00000414691.3 - 2 564 ADTRP_ENST00000229583.5_Intron|ADTRP_ENST00000379413.2_Intron NM_032744.3 NP_116133.1 Q96IZ2 ADTRP_HUMAN androgen-dependent TFPI-regulating protein NA NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) NA CTCAAAAATCTTACTACTCAA 0.338 NA T||| 1020 0.203674 0.1278 0.1182 5008 , , NA 15558 0.4821 NA 0.1322 False NA ,,, NA NA NA 2504 0.1534 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ420520 CCDS4521.1, CCDS47374.1 6p24.1 2012-01-30 2012-01-27 2012-01-27 ENSG00000111863 ENSG00000111863 84830 21214 protein-coding gene gene with protein product androgen-induced 1-like 614348 chromosome 6 open reading frame 105 C6orf105 NA 21868574 Standard NM_032744 NM_032744 NA Approved dJ413H6.1, AIG1L uc011dip.2 Q96IZ2 OTTHUMG00000014260 ENST00000414691.3:c.154-1498A>C chr6.hg19:g.11770114T>G NA B2R7T9|B4DV39|Q5THW1 hg19 CCDS4521.1 0.02 3.692716 ATCxTAC COVERED NOVEL ADTRP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000039864.3 1 7.155126 KEEP 0 1 35 36 1114 TT 1 1 0 - 11 60 373 0 0 26.000047 124 60 4607 194 ENST00000414691.3 0.081481 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 11861529 11861529 __UNKNOWN__ IGR SNP C C T rs7450581 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:11861529C>T NA NA RP3-413H6.2 (50048 upstream) : RP11-456H18.1 (129046 downstream) NA NA NA GATTACACTGCGCCTAAACCA 0.388 NA T||| 1891 0.377596 0.7761 0.1945 5008 , , NA 17075 0.253 NA 0.2445 False NA ,,, NA NA NA 2504 0.2342 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.11861529C>T NA hg19 0.02 -0.140373 CTGxGCC COVERED NOVEL 0 0 2.407753 KEEP 0 0 0 8 277 CC 0.99257 0.259026 0 3 60 107 0 0 8.778311 13 60 496 27 0.1875 0.260965 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 11863135 11863135 __UNKNOWN__ IGR SNP C C T rs386697157|rs1883856 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:11863135C>T NA NA RP3-413H6.2 (51654 upstream) : RP11-456H18.1 (127440 downstream) NA NA NA TGGTATGAAACACCCCAGATC 0.478 NA C||| 1025 0.204673 0.239 0.1138 5008 , , NA 18390 0.253 NA 0.1829 False NA ,,, NA NA NA 2504 0.1953 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.11863135C>T NA hg19 0.02 2.296295 AAAxACC COVERED NOVEL 0 1 3.310852 KEEP 0 0 0 11 391 CC 0.993072 0.972741 0 4 60 145 0 0 10.152395 52 60 1910 87 0.071429 0.979526 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 11863136 11863136 __UNKNOWN__ IGR SNP A A G rs386697157|rs1883857 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:11863136A>G NA NA RP3-413H6.2 (51655 upstream) : RP11-456H18.1 (127439 downstream) NA NA NA GGTATGAAACACCCCAGATCC 0.478 NA G||| 1895 0.378395 0.7769 0.1945 5008 , , NA 18408 0.253 NA 0.2445 False NA ,,, NA NA NA 2504 0.2372 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.11863136A>G NA hg19 0.02 2.469736 AACxCCC COVERED NOVEL 0 1 3.911712 KEEP 0 0 0 13 418 AA 0.994391 0.980622 0 5 60 192 0 0 14.150614 54 60 1956 92 0.084746 0.986153 HIVEP1 3096 __UNKNOWN__ __UNKNOWN__ 6 12124587 12124587 __UNKNOWN__ Missense_Mutation SNP C C G rs2228212 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:12124587C>G ENST00000379388.2 + 4 4891 c.4559C>G c.(4558-4560)gCa>gGa p.A1520G NM_002114.2 NP_002105.2 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer binding protein 1 1520 NA A -> G (in dbSNP:rs2228212). {ECO:0000269|PubMed:15489334}. negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351) mitochondrion (GO:0005739)|nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) CAAATCCATGCACCGCCTAGC 0.438 NA C||| 1242 0.248003 0.1982 0.3141 5008 , , NA 20407 0.1796 NA 0.3439 False NA ,,, NA NA NA 2504 0.2403 NA NA NA NA 0 C GLY/ALA 815,3079 93,629,1225 71 68 69 4559 -3.8 0 6 dbSNP_98 69 2947,5359 515,1917,1721 yes missense HIVEP1 NM_002114.2 60 608,2546,2946 GG,GC,CC 35.4804,20.9296,30.8361 benign 1520/2719 12124587 3762,8438 1947 4153 6100 SO:0001583 missense J05011 CCDS43426.1 6p24-p22.3 2012-10-05 2001-11-28 ENSG00000095951 ENSG00000095951 3096 Zinc fingers, C2H2-type 4920 protein-coding gene gene with protein product 194540 human immunodeficiency virus type I enhancer-binding protein 1, zinc finger protein 40 ZNF40 NA 2037300 Standard NM_002114 XR_241895 NA Approved CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A uc003nac.3 P15822 OTTHUMG00000014265 ENST00000379388.2:c.4559C>G chr6.hg19:g.12124587C>G ENSP00000368698:p.Ala1520Gly NA B2RTU3|Q14122|Q5MPB1|Q5VW60 hg19 CCDS43426.1 0.02 16.110598 ATGxACC COVERED 584 0.2673992673992674 102 0.2073170731707317 117 0.32320441988950277 92 0.16083916083916083 273 0.36015831134564646 C 8.046 0.764953 0.15914 0.209296 0.354804 ENSG00000095951 ENST00000379388 T 0.08984 3.03 5.93 -3.84 0.04256 . 2.326850 0.02143 N 0.057348 T 0.01558 0.0050 N 0.22421 0.69 0.80722 P 0.0 B 0.23806 0.091 B 0.16722 0.016 T 0.43940 -0.9360 8 . . . 3.6801 7.1783 0.25757 0.1612:0.3873:0.0:0.4515 rs2228212;rs17677180;rs52809676;rs2228212 1520 P15822 ZEP1_HUMAN G 1520 ENSP00000368698:A1520G . A + 2 0 HIVEP1 12232573 0.000000 0.05858 0.000000 0.03702 0.006000 0.05464 -0.720000 0.04969 -0.373000 0.07979 -0.218000 0.12543 GCA NOVEL HIVEP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000039870.2 2 13.479215 KEEP 0 1 32 56 1992 CC 1 1 0 + 20 60 726 0 0 48.765182 334 60 12182 488 ENST00000379388.2 0.056497 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 12165363 12165363 __UNKNOWN__ IGR SNP C C T rs219950 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:12165363C>T NA NA HIVEP1 (131 upstream) : EDN1 (125232 downstream) NA NA NA AGACTTTACTCGCCTTTCTAC 0.353 NA C||| 1495 0.298522 0.3926 0.3256 5008 , , NA 17376 0.1776 NA 0.334 False NA ,,, NA NA NA 2504 0.2403 NA NA NA NA 0 C 698,1052 130,438,307 46 52 50 -8.5 0 6 dbSNP_79 50 1382,2598 242,898,850 yes near-gene-3 372,1336,1157 TT,TC,CC 34.7236,39.8857,36.3002 12165363 2080,3650 875 1990 2865 SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.12165363C>T NA hg19 0.02 38.903788 ACTxGCC COVERED NOVEL 0 4 6.19059 KEEP 0 5 158 76 2558 CC 1 1 0 39 60 1463 0 0 95.915086 825 60 28457 1110 0.045139 1 EDN1 1906 __UNKNOWN__ __UNKNOWN__ 6 12296255 12296255 __UNKNOWN__ Missense_Mutation SNP G G T rs5370 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:12296255G>T ENST00000379375.5 + 5 861 c.594G>T c.(592-594)aaG>aaT p.K198N NM_001168319.1|NM_001955.4 NP_001161791.1|NP_001946.3 P05305 EDN1_HUMAN endothelin 1 198 NA K -> N (polymorphism associated with HDL cholesterol levels is some populations and in a sex-specific manner; dbSNP:rs5370). {ECO:0000269|PubMed:10334806, ECO:0000269|PubMed:10391210, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17357073, ECO:0000269|PubMed:18288492, ECO:0000269|Ref.5}. artery smooth muscle contraction (GO:0014824)|body fluid secretion (GO:0007589)|calcium-mediated signaling (GO:0019722)|cartilage development (GO:0051216)|cell growth (GO:0016049)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|dorsal/ventral pattern formation (GO:0009953)|epithelial fluid transport (GO:0042045)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose transport (GO:0015758)|heart development (GO:0007507)|histamine secretion (GO:0001821)|in utero embryonic development (GO:0001701)|inositol phosphate-mediated signaling (GO:0048016)|leukocyte activation (GO:0045321)|maternal process involved in parturition (GO:0060137)|membrane depolarization (GO:0051899)|middle ear morphogenesis (GO:0042474)|multicellular organismal aging (GO:0010259)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of hormone secretion (GO:0046888)|negative regulation of nitric-oxide synthase biosynthetic process (GO:0051771)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell development (GO:0014032)|nitric oxide transport (GO:0030185)|patterning of blood vessels (GO:0001569)|peptide hormone secretion (GO:0030072)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase D-activating G-protein coupled receptor signaling pathway (GO:0031583)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell size (GO:0045793)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of heart rate (GO:0010460)|positive regulation of hormone secretion (GO:0046887)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of odontogenesis (GO:0042482)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of urine volume (GO:0035810)|prostaglandin biosynthetic process (GO:0001516)|protein kinase C deactivation (GO:0042313)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|respiratory gaseous exchange (GO:0007585)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to testosterone (GO:0033574)|rhythmic excitation (GO:0043179)|sensory perception of pain (GO:0019233)|superoxide anion generation (GO:0042554)|vasoconstriction (GO:0042310)|vein smooth muscle contraction (GO:0014826) cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615) cytokine activity (GO:0005125)|endothelin A receptor binding (GO:0031707)|endothelin B receptor binding (GO:0031708)|hormone activity (GO:0005179) p.K198N(1) endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 13 all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12) all_hematologic(90;0.117) TGAAAGGCAAGCCCTCCAGAG 0.483 NA G||| 1239 0.247404 0.1619 0.147 5008 , , NA 18203 0.2857 NA 0.2127 False NA ,,, NA NA NA 2504 0.4305 NA NA NA NA 1 Substitution - Missense(1) stomach(1) GRCh37 CM993569 EDN1 M rs5370 G ASN/LYS,ASN/LYS 865,3541 337.0+/-304.7 98,669,1436 158 150 152 http://www.ncbi.nlm.nih.gov/sites/varvu?gene 591,594 2.2 0.1 6 dbSNP_52 152 1817,6783 326.9+/-317.6 185,1447,2668 yes missense,missense EDN1 NM_001168319.1,NM_001955.4 94,94 283,2116,4104 TT,TG,GG 21.1279,19.6323,20.6213 benign,benign 197/212,198/213 12296255 2682,10324 2203 4300 6503 SO:0001583 missense S56805 CCDS4522.1 6p24.1 2014-03-19 ENSG00000078401 ENSG00000078401 1906 Endogenous ligands 3176 protein-coding gene gene with protein product 131240 NA Standard NM_001955 NM_001168319 NA Approved ET1 uc003nae.4 P05305 OTTHUMG00000014266 ENST00000379375.5:c.594G>T chr6.hg19:g.12296255G>T ENSP00000368683:p.Lys198Asn NA Q96DA1 hg19 CCDS4522.1 0.02 35.012211 CAAxCCC COVERED 449 0.20558608058608058 68 0.13821138211382114 63 0.17403314917127072 158 0.2762237762237762 160 0.21108179419525067 G 7.695 0.691892 0.15039 0.196323 0.211279 ENSG00000078401 ENST00000379375 D 0.84589 -1.87 5.93 2.18 0.27775 . 0.551151 0.21002 N 0.081852 T 0.60894 0.2304 L 0.38175 1.15 0.45452 P 0.001570999999999989 P;P 0.34462 0.454;0.454 B;B 0.26614 0.071;0.071 T 0.49532 -0.8930 9 0.51188 T 0.08 -14.7064 9.471 0.38842 0.276:0.0:0.724:0.0 rs5370;rs2229566;rs17845238;rs17858054;rs57072783;rs5370 198;198 Q6FH53;P05305 .;EDN1_HUMAN N 198 ENSP00000368683:K198N ENSP00000368683:K198N K + 3 2 EDN1 12404241 0.001000 0.12720 0.141000 0.22245 0.005000 0.04900 0.049000 0.14099 0.116000 0.18110 0.655000 0.94253 AAG NOVEL EDN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000039872.1 7 30.099436 KEEP 0 0 0 100 3694 GG 1 1 0 + 25 60 897 0 0 53.242012 784 60 29954 1148 ENST00000379375.5 0.030902 1 PHACTR1 221692 __UNKNOWN__ __UNKNOWN__ 6 13275120 13275120 __UNKNOWN__ 3'UTR SNP T T C rs77897651 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:13275120T>C ENST00000379350.1 + 0 3549 PHACTR1_ENST00000332995.7_Intron|RP1-257A7.4_ENST00000399446.2_RNA|PHACTR1_ENST00000379335.3_Intron|PHACTR1_ENST00000457702.2_Intron|PHACTR1_ENST00000379329.1_Intron Q9C0D0 PHAR1_HUMAN phosphatase and actin regulator 1 NA NA actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149) cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202) actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864) breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 26 Breast(50;0.0427)|Ovarian(93;0.12) all_hematologic(90;0.122)|Lung SC(78;0.195) Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239) TGACCAATTCTAACAGGTTGG 0.358 NA T||| 7 0.00139776 0.0 0.0 5008 , , NA 17478 0.0069 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB051520 CCDS75401.1 6p23 2013-01-24 2004-05-20 2004-05-21 ENSG00000112137 ENSG00000112137 221692 Phosphatase and actin regulators 20990 protein-coding gene gene with protein product 608723 RPEL repeat containing 1 RPEL1 NA 11214970, 15107502 Standard XM_166420 NM_030948 NA Approved KIAA1733, dJ257A7.2 uc010jpc.3 Q9C0D0 OTTHUMG00000014270 ENST00000379350.1:c.*1965T>C chr6.hg19:g.13275120T>C NA A8K1V2|Q3MJ93|Q5JSJ2 hg19 0.02 6.65745 TTCxAAC COVERED NOVEL PHACTR1-001 KNOWN basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000039876.1 0 10.231233 KEEP 0 0 0 34 1076 TT 0.999998 0.999998 0 + 8 60 300 0 0 19.549646 175 60 6545 268 ENST00000379350.1 0.043716 1 TBC1D7 51256 __UNKNOWN__ __UNKNOWN__ 6 13325279 13325279 __UNKNOWN__ Intron SNP C C T rs2439553 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:13325279C>T ENST00000379300.3 - 3 437 TBC1D7_ENST00000379307.2_Intron|TBC1D7_ENST00000343141.4_Intron|TBC1D7_ENST00000607658.1_Intron|TBC1D7_ENST00000607532.1_Intron|TBC1D7_ENST00000356436.4_Intron NM_001143964.2|NM_016495.4 NP_001137436.1|NP_057579.1 Q9P0N9 TBCD7_HUMAN TBC1 domain family, member 7 NA NA activation of Rho GTPase activity (GO:0032862)|negative regulation of cilium assembly (GO:1902018)|negative regulation of TOR signaling (GO:0032007)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of Rab GTPase activity (GO:0032851)|response to growth factor (GO:0070848) ciliary basal body (GO:0036064)|cytoplasmic vesicle (GO:0031410) Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137) breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1) 22 Breast(50;0.0296)|Ovarian(93;0.0339) all_hematologic(90;0.135) Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21) ATGATCCCTTCATTCAATATT 0.403 NA T||| 2781 0.555312 0.6906 0.451 5008 , , NA 17677 0.5992 NA 0.3539 False NA ,,, NA NA NA 2504 0.6084 NA NA NA NA 0 T ,,, 2798,1608 478.3+/-358.2 905,988,310 26 29 28 ,,, -0.2 0 6 dbSNP_100 28 3059,5541 649.3+/-400.6 554,1951,1795 no intron,intron,intron,intron TBC1D7 NM_001143964.2,NM_001143965.2,NM_001143966.2,NM_016495.4 ,,, 1459,2939,2105 TT,TC,CC 35.5698,36.4957,45.0331 ,,, ,,, 13325279 5857,7149 2203 4300 6503 SO:0001627 intron_variant AF151073 CCDS4523.1, CCDS47376.1, CCDS58995.1 6p23 2013-07-10 ENSG00000145979 ENSG00000145979 51256 21066 protein-coding gene gene with protein product 612655 NA 11042152, 17646400 Standard NM_016495 XM_005249163 NA Approved dJ257A7.3, FLJ32666 uc003nan.3 Q9P0N9 OTTHUMG00000014272 ENST00000379300.3:c.193+46G>A chr6.hg19:g.13325279C>T NA E7EV96|Q2TU37|Q53F44|Q5SZL7|Q86VM8|Q96MB8 hg19 CCDS4523.1 0.02 5.938516 CTTxATT COVERED NOVEL TBC1D7-009 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000039896.2 1 9.362776 KEEP 0 1 22 39 1316 CC 1 1 0 - 6 60 214 0 0 12.934678 168 60 6290 239 ENST00000379300.3 0.034483 1 CD83 9308 __UNKNOWN__ __UNKNOWN__ 6 14118138 14118138 __UNKNOWN__ Intron SNP C C G rs2235368 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:14118138C>G ENST00000379153.3 + 2 208 NM_001040280.1|NM_001251901.1|NM_004233.3 NP_001035370.1|NP_001238830.1|NP_004224.1 Q01151 CD83_HUMAN CD83 molecule NA NA defense response (GO:0006952)|humoral immune response (GO:0006959)|negative regulation of interleukin-4 production (GO:0032713)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-2 production (GO:0032743)|response to organic cyclic compound (GO:0014070)|signal transduction (GO:0007165) external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1) 12 Breast(50;0.00245)|Ovarian(93;0.137) all_hematologic(90;0.117) GACACCCCCTCCCGTCGGTCG 0.682 NA C||| 1410 0.28155 0.5234 0.3343 5008 , , NA 9815 0.1389 NA 0.2286 False NA ,,, NA NA NA 2504 0.1186 NA NA NA NA 0 C , 1954,2420 436,1082,669 9 9 9 , -7.9 0 6 dbSNP_98 9 1615,6877 179,1257,2810 no intron,intron CD83 NM_001040280.1,NM_004233.3 , 615,2339,3479 GG,GC,CC 19.0179,44.6731,27.7398 , , 14118138 3569,9297 2187 4246 6433 SO:0001627 intron_variant Z11697 CCDS4532.1, CCDS75403.1 6p23 2013-01-11 2006-03-31 ENSG00000112149 ENSG00000112149 9308 CD molecules, Immunoglobulin superfamily / V-set domain containing 1703 protein-coding gene gene with protein product 604534 CD83 antigen (activated B lymphocytes, immunoglobulin superfamily), CD83 molecule NA 1378080, 8422464 Standard NM_001251901 NA Approved HB15, BL11 uc003nbi.3 Q01151 OTTHUMG00000014283 ENST00000379153.3:c.38-43C>G chr6.hg19:g.14118138C>G NA Q5THX9 hg19 CCDS4532.1 0.02 10.853388 CCTxCCG COVERED NOVEL CD83-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000039916.1 4 55.073772 KEEP 0 0 0 183 6366 CC 1 1 0 + 9 60 327 0 0 19.882721 260 60 9668 591 ENST00000379153.3 0.033457 1 DTNBP1 84062 __UNKNOWN__ __UNKNOWN__ 6 15662932 15662932 __UNKNOWN__ Intron SNP T T G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:15662932T>G ENST00000344537.5 - 1 229 DTNBP1_ENST00000355917.3_Intron|DTNBP1_ENST00000338950.5_Intron NM_032122.4 NP_115498.2 Q96EV8 DTBP1_HUMAN dystrobrevin binding protein 1 NA NA actin cytoskeleton reorganization (GO:0031532)|anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|blood coagulation (GO:0007596)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|neuron projection morphogenesis (GO:0048812)|platelet dense granule organization (GO:0060155)|positive regulation of gene expression (GO:0010628)|positive regulation of neurotransmitter secretion (GO:0001956)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of dopamine secretion (GO:0014059) axon (GO:0030424)|BLOC-1 complex (GO:0031083)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|growth cone (GO:0030426)|neuron projection (GO:0043005)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)|synaptic vesicle membrane (GO:0030672) cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2) 14 Breast(50;0.0289)|Ovarian(93;0.103) all_hematologic(90;0.0895) Epithelial(50;0.211) ggcggggaggtgcgggacagg 0.731 NA Hermansky-Pudlak syndrome NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database HPS, HPS1-8 AF394226 CCDS4534.1, CCDS4535.1, CCDS75404.1, CCDS75405.1 6p22.3 2013-09-27 ENSG00000047579 ENSG00000047579 84062 Biogenesis of lysosomal organelles complex-1 subunits 17328 protein-coding gene gene with protein product dysbindin-1, biogenesis of lysosomal organelles complex-1, subunit 8 607145 NA 11316798 Standard NM_032122 NM_032122 NA Approved Dysbindin, My031, HPS7, DBND, BLOC1S8 uc003nbm.3 Q96EV8 OTTHUMG00000014295 ENST00000344537.5:c.56+112A>C chr6.hg19:g.15662932T>G NA A8K3V3|Q5THY3|Q5THY4|Q96NV2|Q9H0U2|Q9H3J5 hg19 CCDS4534.1 0.02 2.470247 AGGxGCG COVERED NOVEL DTNBP1-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000039933.2 1 4.921491 KEEP 0 8 52 36 865 TT 1 0.999999 0 - 39 60 315 0 0 15.714853 83 60 2103 202 ENST00000344537.5 0.319672 0.999999 MYLIP 29116 __UNKNOWN__ __UNKNOWN__ 6 16147349 16147349 __UNKNOWN__ 3'UTR SNP T T C rs2072781 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:16147349T>C ENST00000349606.4 + 0 1666 Q8WY64 MYLIP_HUMAN myosin regulatory light chain interacting protein NA NA cellular component movement (GO:0006928)|cholesterol homeostasis (GO:0042632)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|nervous system development (GO:0007399)|positive regulation of protein catabolic process (GO:0045732)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|plasma membrane (GO:0005886) cytoskeletal protein binding (GO:0008092)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 Breast(50;0.0799)|Ovarian(93;0.103) all_hematologic(90;0.0895) Epithelial(50;0.241) TAATGTATCCTGAGGTAAGTT 0.348 NA C||| 853 0.170327 0.2617 0.0605 5008 , , NA 18860 0.2649 NA 0.0765 False NA ,,, NA NA NA 2504 0.1237 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF187016 CCDS4536.1 6p23-p22.3 2011-11-17 ENSG00000007944 ENSG00000007944 29116 21155 protein-coding gene gene with protein product E3 ubiquitin ligase-inducible degrader of the low density lipoprotein receptor 610082 NA 10593918, 11162443, 19688294 Standard NM_013262 NM_013262 NA Approved MIR, IDOL uc003nbq.3 Q8WY64 OTTHUMG00000016405 ENST00000349606.4:c.*367T>C chr6.hg19:g.16147349T>C NA Q5TIA4|Q9BU73|Q9NRL9|Q9UHE7 hg19 0.02 6.517341 TCCxGAG COVERED NOVEL MYLIP-002 KNOWN basic protein_coding NA protein_coding OTTHUMT00000043865.2 3 13.842793 KEEP 0 0 0 46 1476 TT 1 1 0 + 6 60 225 0 0 13.678411 193 60 7201 305 ENST00000349606.4 0.030151 1 ATXN1 6310 __UNKNOWN__ __UNKNOWN__ 6 16306202 16306202 __UNKNOWN__ 3'UTR SNP A A G rs180017 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:16306202A>G ENST00000244769.4 - 0 3742 ATXN1_ENST00000436367.1_3'UTR NM_000332.3 NP_000323.2 P54253 ATX1_HUMAN ataxin 1 NA NA adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542) cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2) 44 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) CCCCTGCAGGACCCTTCCCAC 0.632 NA A||| 1760 0.351438 0.2776 0.4063 5008 , , NA 16196 0.3839 NA 0.3728 False NA ,,, NA NA NA 2504 0.3569 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X79204 CCDS34342.1 6p23 2014-09-17 2004-08-12 2004-08-13 ENSG00000124788 ENSG00000124788 6310 Ataxins 10548 protein-coding gene gene with protein product 601556 spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1) SCA1 NA 1582256 Standard NM_000332 NM_000332 NA Approved D6S504E, ATX1 uc010jpi.3 P54253 OTTHUMG00000014303 ENST00000244769.4:c.*358T>C chr6.hg19:g.16306202A>G NA Q17S02|Q9UJG2|Q9Y4J1 hg19 CCDS34342.1 0.02 14.588848 AGGxCCC COVERED NOVEL ATXN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000039943.3 3 24.237418 KEEP 0 2 73 106 3274 AA 1 1 0 - 13 60 426 0 0 25.09363 344 60 12063 601 ENST00000244769.4 0.036415 1 ATXN1 6310 __UNKNOWN__ __UNKNOWN__ 6 16306866 16306866 __UNKNOWN__ Silent SNP G G A rs2072737 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:16306866G>A ENST00000244769.4 - 9 3078 c.2142C>T c.(2140-2142)gaC>gaT p.D714D ATXN1_ENST00000436367.1_Silent_p.D714D NM_000332.3 NP_000323.2 P54253 ATX1_HUMAN ataxin 1 714 Interaction with USP7.|RNA-binding. NA adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542) cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2) 44 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) CCGCCAGGCCGTCGGCCTTTG 0.577 NA G||| 601 0.120008 0.1051 0.1081 5008 , , NA 17553 0.3026 NA 0.0179 False NA ,,, NA NA NA 2504 0.0654 NA NA NA NA 0 G , 419,3987 207.5+/-228.8 19,381,1803 64 63 63 2142,2142 5.2 0.9 6 dbSNP_96 63 122,8478 63.9+/-126.0 0,122,4178 no coding-synonymous,coding-synonymous ATXN1 NM_000332.3,NM_001128164.1 , 19,503,5981 AA,AG,GG 1.4186,9.5098,4.1596 , 714/816,714/816 16306866 541,12465 2203 4300 6503 SO:0001819 synonymous_variant X79204 CCDS34342.1 6p23 2014-09-17 2004-08-12 2004-08-13 ENSG00000124788 ENSG00000124788 6310 Ataxins 10548 protein-coding gene gene with protein product 601556 spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1) SCA1 NA 1582256 Standard NM_000332 NM_000332 NA Approved D6S504E, ATX1 uc010jpi.3 P54253 OTTHUMG00000014303 ENST00000244769.4:c.2142C>T chr6.hg19:g.16306866G>A NA Q17S02|Q9UJG2|Q9Y4J1 hg19 CCDS34342.1 0.02 18.708702 GCCxTCG COVERED NOVEL ATXN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000039943.3 1 37.318217 KEEP 0 0 0 124 4239 GG 1 1 0 - 16 60 561 0 0 33.512409 450 60 15882 707 ENST00000244769.4 0.034335 1 RBM24 221662 __UNKNOWN__ __UNKNOWN__ 6 17293563 17293563 __UNKNOWN__ 3'UTR SNP G G C rs75490205 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:17293563G>C ENST00000379052.5 + 0 2160 RBM24_ENST00000318204.5_3'UTR NM_001143942.1 NP_001137414.1 Q9BX46 RBM24_HUMAN RNA binding motif protein 24 NA NA cell differentiation (GO:0030154)|regulation of mRNA stability (GO:0043488)|regulation of myotube differentiation (GO:0010830) cytoplasm (GO:0005737)|nucleus (GO:0005634) mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166) endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1) 13 Breast(50;0.0615)|Ovarian(93;0.0733) all_hematologic(90;0.062) all cancers(50;0.131)|Epithelial(50;0.15) AGTAAGTCTAGATGTAGCGTA 0.279 NA G||| 279 0.0557109 0.0582 0.0259 5008 , , NA 16234 0.1419 NA 0.0278 False NA ,,, NA NA NA 2504 0.0133 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC040928 CCDS4538.1, CCDS47378.1, CCDS47379.1 6p22.3 2013-02-12 2004-04-23 2004-04-23 ENSG00000112183 ENSG00000112183 221662 RNA binding motif (RRM) containing 21539 protein-coding gene gene with protein product RNA-binding region (RNP1, RRM) containing 6 RNPC6 NA Standard NM_153020 NM_153020 NA Approved FLJ30829, dJ259A10.1 uc003nbz.4 Q9BX46 OTTHUMG00000014306 ENST00000379052.5:c.*1213G>C chr6.hg19:g.17293563G>C NA E9PAY4|Q6QDA4|Q8N9D3|Q96NI3 hg19 CCDS47378.1 0.02 10.674193 CTAxATG COVERED NOVEL RBM24-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000039946.2 1 15.046755 KEEP 0 0 0 50 1738 GG 1 1 0 + 8 60 301 0 0 18.134363 273 60 10400 398 ENST00000379052.5 0.02847 1 NUP153 9972 __UNKNOWN__ __UNKNOWN__ 6 17616256 17616256 __UNKNOWN__ 3'UTR SNP C C T rs3777711 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:17616256C>T ENST00000262077.2 - 0 4499 NM_005124.2 NP_005115.2 P49790 NU153_HUMAN nucleoporin 153kDa NA NA carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032) cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654) DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270) NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2) 53 Breast(50;0.0259)|Ovarian(93;0.0584) all_hematologic(90;0.125) all cancers(50;0.0981)|Epithelial(50;0.112) AACCCCAGCACAAAGTACAAT 0.433 NA C||| 463 0.0924521 0.087 0.0072 5008 , , NA 13526 0.2788 NA 0.007 False NA ,,, NA NA NA 2504 0.0562 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Z25535 CCDS4541.1, CCDS64359.1, CCDS75407.1 6p22.3 2008-07-29 2002-08-29 ENSG00000124789 ENSG00000124789 9972 8062 protein-coding gene gene with protein product 603948 nucleoporin 153kD NA 8110839 Standard NM_001278209 NA Approved HNUP153 uc003ncd.2 P49790 OTTHUMG00000014312 ENST00000262077.2:c.*72G>A chr6.hg19:g.17616256C>T NA B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743 hg19 CCDS4541.1 0.02 10.661602 GCAxAAA COVERED NOVEL NUP153-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000039953.1 2 30.700562 KEEP 0 0 0 102 3662 CC 1 1 0 - 9 60 334 0 0 20.229741 285 60 10924 543 ENST00000262077.2 0.030612 1 KIF13A 63971 __UNKNOWN__ __UNKNOWN__ 6 17764530 17764530 __UNKNOWN__ Silent SNP C C T rs9371018 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:17764530C>T ENST00000259711.6 - 39 5334 c.5229G>A c.(5227-5229)gaG>gaA p.E1743E KIF13A_ENST00000378826.2_Silent_p.E1708E|KIF13A_ENST00000378814.5_Silent_p.E1695E|KIF13A_ENST00000378816.5_Silent_p.E1708E|KIF13A_ENST00000378843.2_Silent_p.E1695E NM_022113.5 NP_071396.4 Q9H1H9 KI13A_HUMAN kinesin family member 13A 1743 NA ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383) centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777) breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) AATCTTTTCCCTCTGACACTC 0.502 NA C||| 1517 0.302915 0.1006 0.3343 5008 , , NA 18534 0.5347 NA 0.3072 False NA ,,, NA NA NA 2504 0.3108 NA NA NA NA 0 C ,,, 453,3283 30,393,1445 64 60 61 5124,5085,5085,5229 -8.6 0.3 6 dbSNP_119 61 2572,5640 409,1754,1943 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous KIF13A NM_001105566.2,NM_001105567.2,NM_001105568.2,NM_022113.5 ,,, 439,2147,3388 TT,TC,CC 31.32,12.1253,25.318 ,,, 1708/1771,1695/1758,1695/1750,1743/1806 17764530 3025,8923 1868 4106 5974 SO:0001819 synonymous_variant AJ291578 CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1 6p23 2008-10-21 ENSG00000137177 ENSG00000137177 63971 Kinesins 14566 protein-coding gene gene with protein product 605433 NA 11106728 Standard NM_022113 NA Approved bA500C11.2 uc003ncg.4 Q9H1H9 OTTHUMG00000014313 ENST00000259711.6:c.5229G>A chr6.hg19:g.17764530C>T NA A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8 hg19 CCDS47381.1 0.02 9.200008 TCCxTCT COVERED NOVEL KIF13A-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000039954.4 1 7.159223 KEEP 0 1 35 36 1300 CC 1 1 0 - 16 60 592 0 0 42.240784 195 60 7248 292 ENST00000259711.6 0.075829 1 NHLRC1 378884 __UNKNOWN__ __UNKNOWN__ 6 18122506 18122506 __UNKNOWN__ Missense_Mutation SNP G G A rs10949483 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:18122506G>A ENST00000340650.3 - 1 345 c.332C>T c.(331-333)cCc>cTc p.P111L NM_198586.2 NP_940988.2 Q6VVB1 NHLC1_HUMAN NHL repeat containing E3 ubiquitin protein ligase 1 111 NA P -> L (common polymorphism; dbSNP:rs10949483). {ECO:0000269|PubMed:12958597, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16021330}. autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|positive regulation of protein ubiquitination (GO:0031398)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471) ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2) 11 Ovarian(93;0.016)|Breast(50;0.0245) all_hematologic(90;0.165) all cancers(50;0.0451)|Epithelial(50;0.0493) GAGGGCTCCGGGGGCGCTGGG 0.721 NA G||| 1717 0.342851 0.2042 0.4914 5008 , , NA 13309 0.3869 NA 0.3996 False NA ,,, NA NA NA 2504 0.3211 NA NA NA NA 0 GRCh37 CM065338 NHLRC1 M rs10949483 G LEU/PRO 1051,3273 171,709,1282 8 11 10 332 5.2 0.3 6 dbSNP_120 10 3258,5204 685,1888,1658 no missense NHLRC1 NM_198586.2 98 856,2597,2940 AA,AG,GG 38.5015,24.3062,33.7009 probably-damaging 111/396 18122506 4309,8477 2162 4231 6393 SO:0001583 missense AY324849 CCDS4542.1 6p22.3 2014-01-28 2013-12-12 ENSG00000187566 ENSG00000187566 378884 21576 protein-coding gene gene with protein product epilepsy, progressive myoclonus type 2B 608072 NHL repeat containing 1 NA 12958597 Standard NM_198586 NA Approved bA204B7.2, EPM2B, malin uc003ncl.1 Q6VVB1 OTTHUMG00000014315 ENST00000340650.3:c.332C>T chr6.hg19:g.18122506G>A ENSP00000345464:p.Pro111Leu NA Q3SYB1|Q5VUK7|Q6IMH1 hg19 CCDS4542.1 0.02 3.858345 CCGxGGG COVERED 804 0.36813186813186816 98 0.1991869918699187 161 0.4447513812154696 234 0.4090909090909091 311 0.4102902374670185 G 15.37 2.813953 0.50527 0.243062 0.385015 ENSG00000187566 ENST00000340650 D 0.96940 -4.18 5.23 5.23 0.72850 . 0.204269 0.42964 D 0.000640 D 0.92750 0.7695 L 0.60455 1.87 0.37876 P 0.06976300000000002 B 0.26935 0.164 B 0.22601 0.04 D 0.91206 0.4995 9 0.37606 T 0.19 -14.094 17.5815 0.87970 0.0:0.0:1.0:0.0 rs10949483 111 Q6VVB1 NHLC1_HUMAN L 111 ENSP00000345464:P111L ENSP00000345464:P111L P - 2 0 NHLRC1 18230485 0.148000 0.22702 0.259000 0.24435 0.753000 0.42808 1.492000 0.35594 2.418000 0.82041 0.655000 0.94253 CCC NOVEL NHLRC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000039958.1 4 8.659084 KEEP 0 1 29 39 1337 GG 1 1 0 - 5 60 184 0 0 11.440172 134 60 4813 206 ENST00000340650.3 0.035971 1 TPMT 7172 __UNKNOWN__ __UNKNOWN__ 6 18128659 18128659 __UNKNOWN__ 3'UTR SNP T T A rs7886 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:18128659T>A ENST00000309983.4 - 0 3063 NM_000367.2 NP_000358.1 P51580 TPMT_HUMAN thiopurine S-methyltransferase NA NA methylation (GO:0032259)|nucleobase-containing compound metabolic process (GO:0006139)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) thiopurine S-methyltransferase activity (GO:0008119) large_intestine(2)|lung(1) 3 Ovarian(93;0.016)|Breast(50;0.0245) all_hematologic(90;0.146) all cancers(50;0.06)|Epithelial(50;0.0654) Azathioprine(DB00993)|Bendroflumethiazide(DB00436)|Cefazolin(DB01327)|Mercaptopurine(DB01033)|Olsalazine(DB01250)|Trichlormethiazide(DB01021) ATTACATAAATGATCAACTAC 0.363 NA A||| 3820 0.76278 0.8086 0.8098 5008 , , NA 19224 0.7718 NA 0.7773 False NA ,,, NA NA NA 2504 0.6431 NA NA NA Colon(190;1381 2791 16728 32493) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS4543.1 6p22.3 2014-09-17 ENSG00000137364 ENSG00000137364 7172 2.1.1.67 12014 protein-coding gene gene with protein product 187680 NA 8316220 Standard NM_000367 NA Approved uc003ncm.3 P51580 OTTHUMG00000014317 ENST00000309983.4:c.*2240A>T chr6.hg19:g.18128659T>A NA O14806|O15423|O15424|O15425|O15426|O15515|O15548|O43213|Q5VUK6|Q9UBE6|Q9UBT8|Q9UE62 hg19 CCDS4543.1 0.02 9.817643 AAAxGAT COVERED NOVEL TPMT-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000039960.1 0 5.150157 KEEP 0 1 34 29 899 TT 0.999997 0.999997 0 - 21 60 778 0 0 56.782223 222 60 8217 316 ENST00000309983.4 0.08642 1 TPMT 7172 __UNKNOWN__ __UNKNOWN__ 6 18134021 18134021 __UNKNOWN__ Intron SNP C C A rs68138647|rs2842949 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:18134021C>A ENST00000309983.4 - 7 666 NM_000367.2 NP_000358.1 P51580 TPMT_HUMAN thiopurine S-methyltransferase NA NA methylation (GO:0032259)|nucleobase-containing compound metabolic process (GO:0006139)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) thiopurine S-methyltransferase activity (GO:0008119) large_intestine(2)|lung(1) 3 Ovarian(93;0.016)|Breast(50;0.0245) all_hematologic(90;0.146) all cancers(50;0.06)|Epithelial(50;0.0654) Azathioprine(DB00993)|Bendroflumethiazide(DB00436)|Cefazolin(DB01327)|Mercaptopurine(DB01033)|Olsalazine(DB01250)|Trichlormethiazide(DB01021) AAAAAAAAAACCCAACAACTT 0.333 NA C||| 2930 0.585064 0.2995 0.6527 5008 , , NA 17556 0.75 NA 0.7276 False NA ,,, NA NA NA 2504 0.6063 NA NA NA Colon(190;1381 2791 16728 32493) NA 0 C 974,3432 336,302,1565 39 40 39 -2.5 0 6 dbSNP_100 39 4898,3702 2223,452,1625 no intron TPMT NM_000367.2 2559,754,3190 AA,AC,CC 43.0465,22.1062,45.1484 18134021 5872,7134 2203 4300 6503 SO:0001627 intron_variant CCDS4543.1 6p22.3 2014-09-17 ENSG00000137364 ENSG00000137364 7172 2.1.1.67 12014 protein-coding gene gene with protein product 187680 NA 8316220 Standard NM_000367 NA Approved uc003ncm.3 P51580 OTTHUMG00000014317 ENST00000309983.4:c.580+13G>T chr6.hg19:g.18134021C>A NA O14806|O15423|O15424|O15425|O15426|O15515|O15548|O43213|Q5VUK6|Q9UBE6|Q9UBT8|Q9UE62 hg19 CCDS4543.1 0.02 3.975776 AAAxCCA COVERED NOVEL TPMT-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000039960.1 3 6.621534 KEEP 0 0 0 22 773 CC 0.999892 0.99987 0 - 5 70 176 0 0 11.396636 94 60 3339 141 ENST00000309983.4 0.050505 0.999978 KDM1B 221656 __UNKNOWN__ __UNKNOWN__ 6 18161563 18161563 __UNKNOWN__ Silent SNP G G A rs4716224 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:18161563G>A ENST00000297792.5 + 4 270 c.93G>A c.(91-93)aaG>aaA p.K31K KDM1B_ENST00000388870.2_Silent_p.K31K|KDM1B_ENST00000546309.2_Intron|KDM1B_ENST00000397244.1_Silent_p.K31K Q8NB78 KDM1B_HUMAN lysine (K)-specific demethylase 1B 31 NA DNA methylation involved in gamete generation (GO:0043046)|histone H3-K4 demethylation (GO:0034720)|multicellular organismal development (GO:0007275)|regulation of DNA methylation (GO:0044030)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-monomethyl-K4 specific) (GO:0034649)|oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270) breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1) 25 CTTAGGCGAAGAAGAAAGCAA 0.433 NA G||| 1570 0.313498 0.146 0.3501 5008 , , NA 20748 0.5258 NA 0.3419 False NA ,,, NA NA NA 2504 0.2658 NA NA NA NA 0 G 860,3546 336.3+/-304.3 89,682,1432 181 147 159 93 5.8 1 6 dbSNP_111 159 3088,5512 471.5+/-368.1 575,1938,1787 no coding-synonymous KDM1B NM_153042.3 664,2620,3219 AA,AG,GG 35.907,19.5188,30.3552 31/591 18161563 3948,9058 2203 4300 6503 SO:0001819 synonymous_variant AK125318 CCDS34343.1 6p22.3 2011-07-01 2009-09-29 2009-09-29 ENSG00000165097 ENSG00000165097 221656 Chromatin-modifying enzymes / K-demethylases 21577 protein-coding gene gene with protein product 613081 amine oxidase, flavin containing 1, chromosome 6 open reading frame 193, amine oxidase (flavin containing) domain 1 C6orf193, AOF1 NA 19407342, 19727073 Standard NM_153042 NM_153042 NA Approved FLJ34109, FLJ33898, dJ298J15.2, bA204B7.3, FLJ43328, LSD2 uc003ncn.1 Q8NB78 OTTHUMG00000014316 ENST00000297792.5:c.93G>A chr6.hg19:g.18161563G>A NA A2A2C5|A2A2C6|Q5TGV3|Q6AI15|Q6ZUU4|Q8N258|Q96EL7 hg19 CCDS34343.1 0.02 12.617997 GAAxAAG COVERED NOVEL KDM1B-002 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000277080.1 2 18.653912 KEEP 0 0 0 62 2238 GG 1 1 0 + 17 60 607 0 0 40.234747 292 60 11119 453 ENST00000297792.5 0.055016 1 KDM1B 221656 __UNKNOWN__ __UNKNOWN__ 6 18222745 18222745 __UNKNOWN__ 3'UTR SNP C C T rs572304559 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:18222745C>T ENST00000297792.5 + 0 2472 KDM1B_ENST00000388870.2_3'UTR|KDM1B_ENST00000397244.1_3'UTR Q8NB78 KDM1B_HUMAN lysine (K)-specific demethylase 1B NA NA DNA methylation involved in gamete generation (GO:0043046)|histone H3-K4 demethylation (GO:0034720)|multicellular organismal development (GO:0007275)|regulation of DNA methylation (GO:0044030)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-monomethyl-K4 specific) (GO:0034649)|oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270) breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1) 25 GGATACAGCACAAACTCCAGT 0.289 NA C||| 1 0.000199681 0.0 0.0 5008 , , NA 16663 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK125318 CCDS34343.1 6p22.3 2011-07-01 2009-09-29 2009-09-29 ENSG00000165097 ENSG00000165097 221656 Chromatin-modifying enzymes / K-demethylases 21577 protein-coding gene gene with protein product 613081 amine oxidase, flavin containing 1, chromosome 6 open reading frame 193, amine oxidase (flavin containing) domain 1 C6orf193, AOF1 NA 19407342, 19727073 Standard NM_153042 NM_153042 NA Approved FLJ34109, FLJ33898, dJ298J15.2, bA204B7.3, FLJ43328, LSD2 uc003ncn.1 Q8NB78 OTTHUMG00000014316 ENST00000297792.5:c.*522C>T chr6.hg19:g.18222745C>T NA A2A2C5|A2A2C6|Q5TGV3|Q6AI15|Q6ZUU4|Q8N258|Q96EL7 hg19 CCDS34343.1 0.02 4.014667 GCAxAAA COVERED NOVEL KDM1B-002 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000277080.1 3 6.922591 KEEP 0 0 0 23 813 CC 0.999892 0.999891 0 + 6 60 213 0 0 13.800016 115 60 4357 168 ENST00000297792.5 0.049587 0.999999 DEK 7913 __UNKNOWN__ __UNKNOWN__ 6 18224354 18224354 __UNKNOWN__ 3'UTR SNP A A G rs3798298 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:18224354A>G ENST00000397239.3 - 0 3171 NM_003472.3 NP_003463.1 P35659 DEK_HUMAN DEK proto-oncogene NA NA chromatin modification (GO:0016568)|regulation of double-strand break repair (GO:2000779)|regulation of double-strand break repair via nonhomologous end joining (GO:2001032)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|viral genome replication (GO:0019079) nucleus (GO:0005634) DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822) endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 7 Ovarian(93;0.00769)|Breast(50;0.0495) all_hematologic(90;0.053) OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332) ATTATTCCCCATAAGGAAATG 0.299 NA T NUP214 AML A||| 59 0.0117812 0.0 0.0 5008 , , NA 16920 0.0575 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA Dom yes 6 6p23 7913 DEK oncogene (DNA binding) L 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X64229 CCDS34344.1, CCDS47382.1 6p23 2014-06-25 2014-06-25 ENSG00000124795 ENSG00000124795 7913 2768 protein-coding gene gene with protein product 125264 DEK oncogene (DNA binding), DEK oncogene NA 1549122 Standard NM_003472 NA Approved D6S231E uc003ncr.1 P35659 OTTHUMG00000014319 ENST00000397239.3:c.*1596T>C chr6.hg19:g.18224354A>G NA B2R6K6|B4DN37|Q5TGV4|Q5TGV5 hg19 CCDS34344.1 0.02 6.363605 CCCxTAA COVERED NOVEL DEK-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000039962.4 1 7.522212 KEEP 0 0 0 25 776 AA 0.999931 0.999931 0 - 7 60 259 0 0 16.552447 164 60 6097 240 ENST00000397239.3 0.040936 1 MBOAT1 154141 __UNKNOWN__ __UNKNOWN__ 6 20124860 20124860 __UNKNOWN__ Intron SNP G G A rs949550 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:20124860G>A ENST00000324607.7 - 8 879 MBOAT1_ENST00000541730.1_Intron NM_001080480.1 NP_001073949.1 Q6ZNC8 MBOA1_HUMAN membrane bound O-acyltransferase domain containing 1 NA NA glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747) breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5) 20 all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109) OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454) CAGTGTCACCGTGCAGAAGGC 0.468 NA g||| 1375 0.274561 0.1233 0.3501 5008 , , NA 22589 0.4762 NA 0.2416 False NA ,,, NA NA NA 2504 0.2515 NA NA NA NA 0 A 677,3729 284.6+/-277.7 54,569,1580 67 59 62 -0.5 0 6 dbSNP_86 62 2011,6589 350.1+/-327.7 239,1533,2528 no intron MBOAT1 NM_001080480.1 293,2102,4108 AA,AG,GG 23.3837,15.3654,20.6674 20124860 2688,10318 2203 4300 6503 SO:0001627 intron_variant AK093994 CCDS34346.1 6p22.3 2013-10-11 2006-06-29 2006-06-29 ENSG00000172197 ENSG00000172197 154141 21579 protein-coding gene gene with protein product lysophosphatidylethanolamine acyltransferase 1 611732 O-acyltransferase (membrane bound) domain containing 1 OACT1 NA 18287005 Standard NM_001080480 NA Approved MGC44669, dJ434O11.1, LPEAT1 uc003ncx.2 Q6ZNC8 OTTHUMG00000014334 ENST00000324607.7:c.715-29C>T chr6.hg19:g.20124860G>A NA A9EDQ5|B4DL59|B4E3J4|Q86XC2|Q8N9R5 hg19 CCDS34346.1 0.02 1.819369 ACCxTGC COVERED NOVEL MBOAT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000039980.1 1 4.514628 KEEP 0 0 0 15 519 GG 0.99649 0.996446 0 - 13 60 435 0 0 33.006391 86 60 3127 115 ENST00000324607.7 0.131313 0.999956 MBOAT1 154141 __UNKNOWN__ __UNKNOWN__ 6 20126656 20126656 __UNKNOWN__ Intron SNP C C T rs2483766 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:20126656C>T ENST00000324607.7 - 7 879 MBOAT1_ENST00000536798.1_Intron|MBOAT1_ENST00000541730.1_Intron NM_001080480.1 NP_001073949.1 Q6ZNC8 MBOA1_HUMAN membrane bound O-acyltransferase domain containing 1 NA NA glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747) breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5) 20 all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109) OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454) GCCAAGCTTTCTGGTAAACTG 0.353 NA C||| 979 0.195487 0.0477 0.2104 5008 , , NA 19884 0.3919 NA 0.1839 False NA ,,, NA NA NA 2504 0.1943 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK093994 CCDS34346.1 6p22.3 2013-10-11 2006-06-29 2006-06-29 ENSG00000172197 ENSG00000172197 154141 21579 protein-coding gene gene with protein product lysophosphatidylethanolamine acyltransferase 1 611732 O-acyltransferase (membrane bound) domain containing 1 OACT1 NA 18287005 Standard NM_001080480 NA Approved MGC44669, dJ434O11.1, LPEAT1 uc003ncx.2 Q6ZNC8 OTTHUMG00000014334 ENST00000324607.7:c.714+91G>A chr6.hg19:g.20126656C>T NA A9EDQ5|B4DL59|B4E3J4|Q86XC2|Q8N9R5 hg19 CCDS34346.1 0.02 5.718391 TTTxTGG COVERED NOVEL MBOAT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000039980.1 1 13.242363 KEEP 0 0 0 44 1523 CC 1 1 0 - 12 60 411 0 0 28.15659 153 60 5757 237 ENST00000324607.7 0.072727 1 CDKAL1 54901 __UNKNOWN__ __UNKNOWN__ 6 21065449 21065449 __UNKNOWN__ Missense_Mutation SNP C C T rs77152992 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:21065449C>T ENST00000378610.1 + 10 1236 c.1226C>T c.(1225-1227)cCa>cTa p.P409L CDKAL1_ENST00000274695.4_Missense_Mutation_p.P409L|CDKAL1_ENST00000378624.4_Missense_Mutation_p.P339L Q5VV42 CDKAL_HUMAN CDK5 regulatory subunit associated protein 1-like 1 409 NA maintenance of translational fidelity (GO:1990145) integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791) 4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|N6-threonylcarbomyladenosine methylthiotransferase activity (GO:0035598) p.P409Q(1) breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1) 29 all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227) OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248) GAACAAGTTCCAGCACAAGTG 0.393 NA C||| 431 0.0860623 0.0703 0.049 5008 , , NA 16076 0.1567 NA 0.0577 False NA ,,, NA NA NA 2504 0.09 NA NA NA NA 1 Substitution - Missense(1) lung(1) C LEU/PRO 266,4140 142.3+/-177.5 9,248,1946 91 89 90 1226 5.5 1 6 dbSNP_131 90 385,8215 118.1+/-177.6 10,365,3925 yes missense CDKAL1 NM_017774.3 98 19,613,5871 TT,TC,CC 4.4767,6.0372,5.0054 benign 409/580 21065449 651,12355 2203 4300 6503 SO:0001583 missense AK000349 CCDS4546.1 6p22.2 2008-02-05 ENSG00000145996 ENSG00000145996 54901 21050 protein-coding gene gene with protein product 611259 NA Standard NM_017774 NM_017774 NA Approved FLJ20342 uc003ndd.2 Q5VV42 OTTHUMG00000014340 ENST00000378610.1:c.1226C>T chr6.hg19:g.21065449C>T ENSP00000367873:p.Pro409Leu NA A8K6S0|Q6P385|Q6ZR27|Q9NXB3 hg19 CCDS4546.1 0.02 13.765989 TTCxAGC COVERED 135 0.061813186813186816 26 0.052845528455284556 13 0.03591160220994475 63 0.11013986013986014 33 0.04353562005277045 C 19.17 3.776306 0.70107 0.060372 0.044767 ENSG00000145996 ENST00000274695;ENST00000378624;ENST00000378610 T;T;T 0.24538 1.85;1.85;1.85 5.54 5.54 0.83059 Elongator protein 3/MiaB/NifB (1);Radical SAM, alpha/beta horseshoe (1); 0.047201 0.85682 D 0.000000 T 0.35711 0.0941 H 0.94306 3.52 0.80722 D 1 B;B 0.28233 0.079;0.204 B;B 0.25759 0.063;0.062 T 0.48514 -0.9029 10 0.72032 D 0.01 . 19.8426 0.96695 0.0:1.0:0.0:0.0 . 339;409 Q5VV42-2;Q5VV42 .;CDKAL_HUMAN L 409;339;409 ENSP00000274695:P409L;ENSP00000367889:P339L;ENSP00000367873:P409L ENSP00000274695:P409L P + 2 0 CDKAL1 21173428 1.000000 0.71417 1.000000 0.80357 0.965000 0.64279 5.609000 0.67661 2.751000 0.94390 0.591000 0.81541 CCA NOVEL CDKAL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000039986.1 1 29.49541 KEEP 0 0 0 98 3440 CC 1 1 0 + 10 60 387 0 0 24.070103 316 60 12071 526 ENST00000378610.1 0.030675 1 CDKAL1 54901 __UNKNOWN__ __UNKNOWN__ 6 21065450 21065450 __UNKNOWN__ Silent SNP A A G rs56087852 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:21065450A>G ENST00000378610.1 + 10 1237 c.1227A>G c.(1225-1227)ccA>ccG p.P409P CDKAL1_ENST00000274695.4_Silent_p.P409P|CDKAL1_ENST00000378624.4_Silent_p.P339P Q5VV42 CDKAL_HUMAN CDK5 regulatory subunit associated protein 1-like 1 409 NA maintenance of translational fidelity (GO:1990145) integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791) 4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|N6-threonylcarbomyladenosine methylthiotransferase activity (GO:0035598) p.P409P(1) breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1) 29 all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227) OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248) AACAAGTTCCAGCACAAGTGG 0.388 NA A||| 941 0.187899 0.239 0.1369 5008 , , NA 16097 0.1627 NA 0.1998 False NA ,,, NA NA NA 2504 0.1687 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) A 963,3443 359.1+/-314.7 114,735,1354 90 87 88 1227 0 1 6 dbSNP_129 88 1633,6967 298.3+/-303.9 147,1339,2814 no coding-synonymous CDKAL1 NM_017774.3 261,2074,4168 GG,GA,AA 18.9884,21.8566,19.96 409/580 21065450 2596,10410 2203 4300 6503 SO:0001819 synonymous_variant AK000349 CCDS4546.1 6p22.2 2008-02-05 ENSG00000145996 ENSG00000145996 54901 21050 protein-coding gene gene with protein product 611259 NA Standard NM_017774 NM_017774 NA Approved FLJ20342 uc003ndd.2 Q5VV42 OTTHUMG00000014340 ENST00000378610.1:c.1227A>G chr6.hg19:g.21065450A>G NA A8K6S0|Q6P385|Q6ZR27|Q9NXB3 hg19 CCDS4546.1 0.02 14.347698 TCCxGCA COVERED NOVEL CDKAL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000039986.1 1 24.911153 KEEP 0 1 38 96 3016 AA 1 1 0 + 10 60 387 0 0 24.043939 318 60 11946 526 ENST00000378610.1 0.030488 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 22014575 22014575 __UNKNOWN__ IGR SNP C C T rs4712649 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:22014575C>T NA NA SOX4 (415728 upstream) : RN7SKP240 (71197 downstream) NA NA NA gccaccgcgcccggccAGGGT 0.537 NA C||| 1017 0.203075 0.2572 0.2752 5008 , , NA 18132 0.3274 NA 0.0636 False NA ,,, NA NA NA 2504 0.0941 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.22014575C>T NA hg19 0.02 -0.070183 CGCxCGG UNCOVERED NOVEL 0 2 3.911752 KEEP 1 0 0 13 440 CC 0.993634 0.053793 0 2 60 76 0 0 6.600606 6 60 209 25 0.25 0.054137 DCDC2 51473 __UNKNOWN__ __UNKNOWN__ 6 24172926 24172926 __UNKNOWN__ 3'UTR SNP A A G rs6937665 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:24172926A>G ENST00000378454.3 - 0 3764 DCDC2_ENST00000378450.3_3'UTR NM_001195610.1|NM_016356.3 NP_001182539.1|NP_057440.2 Q9UHG0 DCDC2_HUMAN doublecortin domain containing 2 NA NA cellular defense response (GO:0006968)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|neuron migration (GO:0001764)|visual learning (GO:0008542) breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 Ovarian(999;0.101) ATTTAATATTAAAAGACCAAC 0.388 NA A||| 1254 0.250399 0.0688 0.2406 5008 , , NA 12319 0.5694 NA 0.161 False NA ,,, NA NA NA 2504 0.2658 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB032980 CCDS4550.1 6p22.1 2008-02-05 ENSG00000146038 ENSG00000146038 51473 18141 protein-coding gene gene with protein product 605755 NA 10601354, 10574461 Standard NM_016356 NM_001195610 NA Approved RU2, KIAA1154, DCDC2A uc003ndx.3 Q9UHG0 OTTHUMG00000016275 ENST00000378454.3:c.*2032T>C chr6.hg19:g.24172926A>G NA Q5VTR8|Q5VTR9|Q86W35|Q9UFD1|Q9UHG1|Q9ULR6 hg19 CCDS4550.1 0.02 2.294289 ATTxAAA COVERED NOVEL DCDC2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000043604.1 8 7.217353 KEEP 0 0 0 24 737 AA 0.999909 0.999019 0 - 5 60 196 0 0 13.892662 74 60 2684 129 ENST00000378454.3 0.063291 0.99911 DCDC2 51473 __UNKNOWN__ __UNKNOWN__ 6 24174329 24174329 __UNKNOWN__ 3'UTR SNP C C G rs6456593 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:24174329C>G ENST00000378454.3 - 0 2361 DCDC2_ENST00000378450.3_3'UTR NM_001195610.1|NM_016356.3 NP_001182539.1|NP_057440.2 Q9UHG0 DCDC2_HUMAN doublecortin domain containing 2 NA NA cellular defense response (GO:0006968)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|neuron migration (GO:0001764)|visual learning (GO:0008542) breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 Ovarian(999;0.101) ATTTAAGTGACGGCATGGCGA 0.458 NA G||| 2101 0.419529 0.6437 0.3012 5008 , , NA 18534 0.5833 NA 0.1889 False NA ,,, NA NA NA 2504 0.2689 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB032980 CCDS4550.1 6p22.1 2008-02-05 ENSG00000146038 ENSG00000146038 51473 18141 protein-coding gene gene with protein product 605755 NA 10601354, 10574461 Standard NM_016356 NM_001195610 NA Approved RU2, KIAA1154, DCDC2A uc003ndx.3 Q9UHG0 OTTHUMG00000016275 ENST00000378454.3:c.*629G>C chr6.hg19:g.24174329C>G NA Q5VTR8|Q5VTR9|Q86W35|Q9UFD1|Q9UHG1|Q9ULR6 hg19 CCDS4550.1 0.02 7.268943 TGAxGGC COVERED NOVEL DCDC2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000043604.1 1 7.825027 KEEP 0 0 0 26 900 CC 0.999957 0.999957 0 - 11 60 424 0 0 29.354228 181 60 6396 260 ENST00000378454.3 0.057292 1 DCDC2 51473 __UNKNOWN__ __UNKNOWN__ 6 24174333 24174333 __UNKNOWN__ 3'UTR SNP A A G rs6456594 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:24174333A>G ENST00000378454.3 - 0 2357 DCDC2_ENST00000378450.3_3'UTR NM_001195610.1|NM_016356.3 NP_001182539.1|NP_057440.2 Q9UHG0 DCDC2_HUMAN doublecortin domain containing 2 NA NA cellular defense response (GO:0006968)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|neuron migration (GO:0001764)|visual learning (GO:0008542) breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 Ovarian(999;0.101) AAGTGACGGCATGGCGATACT 0.458 NA a||| 2102 0.419728 0.6437 0.3012 5008 , , NA 18521 0.5843 NA 0.1889 False NA ,,, NA NA NA 2504 0.2689 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB032980 CCDS4550.1 6p22.1 2008-02-05 ENSG00000146038 ENSG00000146038 51473 18141 protein-coding gene gene with protein product 605755 NA 10601354, 10574461 Standard NM_016356 NM_001195610 NA Approved RU2, KIAA1154, DCDC2A uc003ndx.3 Q9UHG0 OTTHUMG00000016275 ENST00000378454.3:c.*625T>C chr6.hg19:g.24174333A>G NA Q5VTR8|Q5VTR9|Q86W35|Q9UFD1|Q9UHG1|Q9ULR6 hg19 CCDS4550.1 0.02 8.471295 GGCxTGG COVERED NOVEL DCDC2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000043604.1 1 7.823656 KEEP 0 0 0 26 814 AA 0.999957 0.999957 0 - 10 60 353 0 0 22.793023 192 60 7030 271 ENST00000378454.3 0.049505 1 MRS2 57380 __UNKNOWN__ __UNKNOWN__ 6 24405357 24405357 __UNKNOWN__ Intron SNP A A G rs2273606 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:24405357A>G ENST00000378386.3 + 2 283 MRS2_ENST00000378353.1_Intron|MRS2_ENST00000443868.2_Intron|MRS2_ENST00000274747.7_Intron|MRS2_ENST00000483634.1_Intron|MRS2_ENST00000543597.1_Intron|MRS2_ENST00000535061.1_Intron NM_020662.2 NP_065713.1 Q9HD23 MRS2_HUMAN MRS2 magnesium transporter NA NA integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743) magnesium ion transmembrane transporter activity (GO:0015095) breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1) 12 GTGAAAACCAATCATGTGACC 0.363 NA A||| 568 0.113419 0.0038 0.0965 5008 , , NA 18071 0.1488 NA 0.1938 False NA ,,, NA NA NA 2504 0.1544 NA NA NA NA 0 A 132,4274 92.0+/-130.7 4,124,2075 67 65 66 -2.7 0 6 dbSNP_100 66 1231,7369 245.3+/-274.2 83,1065,3152 no intron MRS2 NM_020662.2 87,1189,5227 GG,GA,AA 14.314,2.9959,10.4798 24405357 1363,11643 2203 4300 6503 SO:0001627 intron_variant AF288288 CCDS4552.1, CCDS69055.1, CCDS69056.1, CCDS75408.1 6p22.3-p22.1 2013-05-03 2013-05-03 2008-01-18 ENSG00000124532 ENSG00000124532 57380 13785 protein-coding gene gene with protein product MRS2-like, magnesium homeostasis factor (S. cerevisiae), MRS2 magnesium homeostasis factor homolog (S. cerevisiae) MRS2L NA Standard XM_005249242 NA Approved uc003neb.3 Q9HD23 OTTHUMG00000014355 ENST00000378386.3:c.191-39A>G chr6.hg19:g.24405357A>G NA A8K4U3|B3KNN2|B4DQL2|Q5T3Y1|Q6NTG4|Q96KF8|Q9BVP1 hg19 CCDS4552.1 0.02 3.921443 CCAxTCA COVERED NOVEL MRS2-009 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040002.1 0 12.938914 KEEP 0 0 0 43 1373 AA 1 1 0 + 5 60 190 0 0 11.97381 138 60 4898 207 ENST00000378386.3 0.034965 1 MRS2 57380 __UNKNOWN__ __UNKNOWN__ 6 24418786 24418786 __UNKNOWN__ Silent SNP T T C rs79527965 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:24418786T>C ENST00000378386.3 + 9 1180 c.1087T>C c.(1087-1089)Ttg>Ctg p.L363L MRS2_ENST00000378353.1_Silent_p.L363L|MRS2_ENST00000443868.2_Silent_p.L366L|MRS2_ENST00000274747.7_3'UTR|MRS2_ENST00000483634.1_3'UTR|MRS2_ENST00000543597.1_Silent_p.L72L|MRS2_ENST00000535061.1_Silent_p.L313L NM_020662.2 NP_065713.1 Q9HD23 MRS2_HUMAN MRS2 magnesium transporter 363 NA integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743) magnesium ion transmembrane transporter activity (GO:0015095) p.L363L(1) breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1) 12 TGGAATGAATTTGGAATCTTC 0.443 NA T||| 582 0.116214 0.0159 0.0965 5008 , , NA 15455 0.1478 NA 0.1938 False NA ,,, NA NA NA 2504 0.1534 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) T 170,4236 109.5+/-147.8 5,160,2038 158 156 157 1087 1.8 1 6 dbSNP_131 157 1234,7366 247.6+/-275.6 84,1066,3150 no coding-synonymous MRS2 NM_020662.2 89,1226,5188 CC,CT,TT 14.3488,3.8584,10.795 363/444 24418786 1404,11602 2203 4300 6503 SO:0001819 synonymous_variant AF288288 CCDS4552.1, CCDS69055.1, CCDS69056.1, CCDS75408.1 6p22.3-p22.1 2013-05-03 2013-05-03 2008-01-18 ENSG00000124532 ENSG00000124532 57380 13785 protein-coding gene gene with protein product MRS2-like, magnesium homeostasis factor (S. cerevisiae), MRS2 magnesium homeostasis factor homolog (S. cerevisiae) MRS2L NA Standard XM_005249242 NA Approved uc003neb.3 Q9HD23 OTTHUMG00000014355 ENST00000378386.3:c.1087T>C chr6.hg19:g.24418786T>C NA A8K4U3|B3KNN2|B4DQL2|Q5T3Y1|Q6NTG4|Q96KF8|Q9BVP1 hg19 CCDS4552.1 0.02 6.731505 AATxTGG COVERED NOVEL MRS2-009 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040002.1 5 13.239742 KEEP 0 0 0 44 1388 TT 1 1 0 + 7 60 250 0 0 15.416242 178 60 6511 300 ENST00000378386.3 0.037838 1 MRS2 57380 __UNKNOWN__ __UNKNOWN__ 6 24418854 24418854 __UNKNOWN__ Intron SNP T T C rs45590133 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:24418854T>C ENST00000378386.3 + 9 1200 MRS2_ENST00000378353.1_Intron|MRS2_ENST00000443868.2_Intron|MRS2_ENST00000274747.7_Intron|MRS2_ENST00000483634.1_3'UTR|MRS2_ENST00000543597.1_Intron|MRS2_ENST00000535061.1_Intron NM_020662.2 NP_065713.1 Q9HD23 MRS2_HUMAN MRS2 magnesium transporter NA NA integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743) magnesium ion transmembrane transporter activity (GO:0015095) breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1) 12 Tggccgggcatggtggctcat 0.473 NA T||| 566 0.113019 0.0038 0.0965 5008 , , NA 15864 0.1478 NA 0.1938 False NA ,,, NA NA NA 2504 0.1534 NA NA NA NA 0 T 128,4272 79.3+/-117.8 3,122,2075 50 54 53 -1.6 0.2 6 dbSNP_127 53 1222,7378 237.9+/-269.6 82,1058,3160 no intron MRS2 NM_020662.2 85,1180,5235 CC,CT,TT 14.2093,2.9091,10.3846 24418854 1350,11650 2200 4300 6500 SO:0001627 intron_variant AF288288 CCDS4552.1, CCDS69055.1, CCDS69056.1, CCDS75408.1 6p22.3-p22.1 2013-05-03 2013-05-03 2008-01-18 ENSG00000124532 ENSG00000124532 57380 13785 protein-coding gene gene with protein product MRS2-like, magnesium homeostasis factor (S. cerevisiae), MRS2 magnesium homeostasis factor homolog (S. cerevisiae) MRS2L NA Standard XM_005249242 NA Approved uc003neb.3 Q9HD23 OTTHUMG00000014355 ENST00000378386.3:c.1107+48T>C chr6.hg19:g.24418854T>C NA A8K4U3|B3KNN2|B4DQL2|Q5T3Y1|Q6NTG4|Q96KF8|Q9BVP1 hg19 CCDS4552.1 0.02 1.82473 GCAxGGT COVERED NOVEL MRS2-009 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040002.1 0 4.814105 KEEP 0 0 0 16 491 TT 0.997832 0.997558 0 + 4 60 141 0 0 8.986436 82 60 3065 112 ENST00000378386.3 0.046512 0.999726 MRS2 57380 __UNKNOWN__ __UNKNOWN__ 6 24418878 24418878 __UNKNOWN__ Intron SNP G G A rs45478094 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:24418878G>A ENST00000378386.3 + 9 1200 MRS2_ENST00000378353.1_Intron|MRS2_ENST00000443868.2_Intron|MRS2_ENST00000274747.7_Intron|MRS2_ENST00000483634.1_3'UTR|MRS2_ENST00000543597.1_Intron|MRS2_ENST00000535061.1_Intron NM_020662.2 NP_065713.1 Q9HD23 MRS2_HUMAN MRS2 magnesium transporter NA NA integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743) magnesium ion transmembrane transporter activity (GO:0015095) breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1) 12 agtaatcctagcactttagga 0.448 NA G||| 582 0.116214 0.0159 0.0965 5008 , , NA 16379 0.1478 NA 0.1938 False NA ,,, NA NA NA 2504 0.1534 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF288288 CCDS4552.1, CCDS69055.1, CCDS69056.1, CCDS75408.1 6p22.3-p22.1 2013-05-03 2013-05-03 2008-01-18 ENSG00000124532 ENSG00000124532 57380 13785 protein-coding gene gene with protein product MRS2-like, magnesium homeostasis factor (S. cerevisiae), MRS2 magnesium homeostasis factor homolog (S. cerevisiae) MRS2L NA Standard XM_005249242 NA Approved uc003neb.3 Q9HD23 OTTHUMG00000014355 ENST00000378386.3:c.1107+72G>A chr6.hg19:g.24418878G>A NA A8K4U3|B3KNN2|B4DQL2|Q5T3Y1|Q6NTG4|Q96KF8|Q9BVP1 hg19 CCDS4552.1 0.02 2.03857 CTAxCAC COVERED NOVEL MRS2-009 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040002.1 0 3.009734 KEEP 0 0 0 10 343 GG 0.992708 0.990921 0 + 4 60 151 0 0 10.276404 69 60 2553 90 ENST00000378386.3 0.054795 0.9982 MRS2 57380 __UNKNOWN__ __UNKNOWN__ 6 24424377 24424377 __UNKNOWN__ 3'UTR SNP T T A rs77152962 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:24424377T>A ENST00000378386.3 + 0 1880 MRS2_ENST00000274747.7_3'UTR NM_020662.2 NP_065713.1 Q9HD23 MRS2_HUMAN MRS2 magnesium transporter NA NA integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743) magnesium ion transmembrane transporter activity (GO:0015095) breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1) 12 GTATTAACCTTACAACAGACT 0.318 NA T||| 582 0.116214 0.0159 0.0965 5008 , , NA 17984 0.1478 NA 0.1938 False NA ,,, NA NA NA 2504 0.1534 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF288288 CCDS4552.1, CCDS69055.1, CCDS69056.1, CCDS75408.1 6p22.3-p22.1 2013-05-03 2013-05-03 2008-01-18 ENSG00000124532 ENSG00000124532 57380 13785 protein-coding gene gene with protein product MRS2-like, magnesium homeostasis factor (S. cerevisiae), MRS2 magnesium homeostasis factor homolog (S. cerevisiae) MRS2L NA Standard XM_005249242 NA Approved uc003neb.3 Q9HD23 OTTHUMG00000014355 ENST00000378386.3:c.*455T>A chr6.hg19:g.24424377T>A NA A8K4U3|B3KNN2|B4DQL2|Q5T3Y1|Q6NTG4|Q96KF8|Q9BVP1 hg19 CCDS4552.1 0.02 5.416896 CCTxACA COVERED NOVEL MRS2-009 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040002.1 4 9.325418 KEEP 0 0 0 31 919 TT 0.999997 0.999997 0 + 6 60 207 0 0 12.032187 182 70 6521 254 ENST00000378386.3 0.031915 1 TDP2 51567 __UNKNOWN__ __UNKNOWN__ 6 24653273 24653273 __UNKNOWN__ Missense_Mutation SNP G G C rs2294689 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:24653273G>C ENST00000378198.4 - 6 915 c.745C>G c.(745-747)Caa>Gaa p.Q249E TDP2_ENST00000545995.1_Missense_Mutation_p.Q279E|TDP2_ENST00000341060.3_Missense_Mutation_p.Q191E O95551 TYDP2_HUMAN tyrosyl-DNA phosphodiesterase 2 249 NA Q -> E (in dbSNP:rs2294689). {ECO:0000269|Ref.5}. cell surface receptor signaling pathway (GO:0007166)|double-strand break repair (GO:0006302)|regulation of RNA biosynthetic process (GO:2001141) cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|PML body (GO:0016605) 5'-tyrosyl-DNA phosphodiesterase activity (GO:0070260)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)|tyrosyl-RNA phosphodiesterase activity (GO:0036317) kidney(2)|large_intestine(1)|lung(5)|ovary(1) 9 GGAGCCTCTTGCATTTTCTTT 0.423 NA Direct reversal of damage G||| 1222 0.24401 0.2579 0.3026 5008 , , NA 17788 0.4623 NA 0.0378 False NA ,,, NA NA NA 2504 0.1708 NA NA NA NA 0 G GLU/GLN 897,3509 348.5+/-309.9 93,711,1399 203 212 209 745 5.3 1 6 dbSNP_100 209 381,8219 123.9+/-182.7 9,363,3928 yes missense TDP2 NM_016614.2 29 102,1074,5327 CC,CG,GG 4.4302,20.3586,9.8262 possibly-damaging 249/363 24653273 1278,11728 2203 4300 6503 SO:0001583 missense AJ269473 CCDS4557.1 6p22.3-p22.1 2010-05-07 2010-05-07 2010-05-07 ENSG00000111802 ENSG00000111802 51567 3.1.4.- 17768 protein-coding gene gene with protein product 605764 TRAF and TNF receptor associated protein TTRAP NA 11478795 Standard NM_016614 NA Approved uc003nej.3 O95551 OTTHUMG00000014360 ENST00000378198.4:c.745C>G chr6.hg19:g.24653273G>C ENSP00000367440:p.Gln249Glu NA B4DKL8|B4DQ95|Q2TBE2|Q5JYM0|Q7Z6U5|Q9NUK5|Q9NYY9 hg19 CCDS4557.1 0.02 12.175725 CTTxCAT COVERED 483 0.22115384615384615 112 0.22764227642276422 100 0.27624309392265195 243 0.42482517482517484 28 0.036939313984168866 G 9.939 1.216996 0.22373 0.203586 0.044302 ENSG00000111802 ENST00000378198;ENST00000545995;ENST00000545780;ENST00000341060 T;T;T 0.80304 -1.36;-1.36;-1.36 5.33 5.33 0.75918 Endonuclease/exonuclease/phosphatase (2); 0.225081 0.46758 D 0.000269 T 0.57695 0.2071 L 0.44542 1.39 0.29930 P 0.8219920000000001 B;B 0.23806 0.074;0.091 B;B 0.29663 0.064;0.105 T 0.50625 -0.8806 9 0.06099 T 0.92 -11.0751 12.9775 0.58546 0.0:0.0:0.718:0.282 rs2294689;rs3181241;rs17243381;rs60616684;rs2294689 279;249 O95551-2;O95551 .;TYDP2_HUMAN E 249;279;171;191 ENSP00000367440:Q249E;ENSP00000437637:Q279E;ENSP00000345345:Q191E ENSP00000345345:Q191E Q - 1 0 TDP2 24761252 1.000000 0.71417 0.969000 0.41365 0.828000 0.46876 3.045000 0.49838 2.654000 0.90174 0.655000 0.94253 CAA NOVEL TDP2-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000040012.1 0 27.691333 KEEP 0 0 0 92 3342 GG 1 1 0 - 16 60 568 0 0 36.262948 332 60 12645 553 ENST00000378198.4 0.045977 1 C6orf62 81688 __UNKNOWN__ __UNKNOWN__ 6 24709202 24709202 __UNKNOWN__ Intron SNP A A G rs2294686 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:24709202A>G ENST00000378119.4 - 4 2597 C6orf62_ENST00000378102.3_Intron|C6orf62_ENST00000540769.1_Intron NM_030939.4 NP_112201.1 Q9GZU0 CF062_HUMAN chromosome 6 open reading frame 62 NA NA intracellular (GO:0005622) endometrium(2)|kidney(3)|large_intestine(2)|lung(3) 10 ATCTGCATCTATATGCTAGCT 0.333 NA A||| 1122 0.224042 0.1936 0.2738 5008 , , NA 19982 0.4901 NA 0.0258 False NA ,,, NA NA NA 2504 0.1595 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL136632 CCDS4559.1 6p22.1 2011-12-13 ENSG00000112308 ENSG00000112308 81688 20998 protein-coding gene gene with protein product HBV X-transactivated protein 12 NA 11230166 Standard NM_030939 NM_030939 NA Approved FLJ12619, DKFZP564G182, XTP12 uc003nel.3 Q9GZU0 OTTHUMG00000014361 ENST00000378119.4:c.430-63T>C chr6.hg19:g.24709202A>G NA Q3LIB6|Q5JVZ2|Q5JVZ3|Q6IA63|Q9H1Z2 hg19 CCDS4559.1 0.02 4.061853 TCTxTAT COVERED NOVEL C6orf62-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040017.1 0 3.308792 KEEP 0 0 0 11 313 AA 0.993072 0.993072 0 - 5 60 180 0 0 11.237728 122 60 4390 140 ENST00000378119.4 0.03937 1 GMNN 51053 __UNKNOWN__ __UNKNOWN__ 6 24781025 24781025 __UNKNOWN__ Intron SNP A A G rs2245409 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:24781025A>G ENST00000230056.3 + 3 461 GMNN_ENST00000356509.3_Intron NM_015895.4 NP_056979.1 O75496 GEMI_HUMAN geminin, DNA replication inhibitor NA NA mitotic cell cycle (GO:0000278)|negative regulation of cell cycle (GO:0045786)|negative regulation of DNA replication (GO:0008156)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|protein complex assembly (GO:0006461) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714) endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1) 10 CATCGAAAACATTTCTACTAT 0.343 NA A||| 908 0.18131 0.2602 0.1196 5008 , , NA 20621 0.1032 NA 0.1203 False NA ,,, NA NA NA 2504 0.2618 NA NA NA NA 0 A 322,1062 34,254,404 119 96 103 -2.1 0 6 dbSNP_100 103 423,2759 33,357,1201 no intron GMNN NM_015895.3 67,611,1605 GG,GA,AA 13.2935,23.2659,16.3163 24781025 745,3821 692 1591 2283 SO:0001627 intron_variant AF067855 CCDS4560.1 6p21.32 2008-10-31 ENSG00000112312 ENSG00000112312 51053 17493 protein-coding gene gene with protein product 602842 NA 9635433 Standard NM_015895 NM_001251989 NA Approved Gem uc003nem.3 O75496 OTTHUMG00000014363 ENST00000230056.3:c.129+57A>G chr6.hg19:g.24781025A>G NA B3KMM8|Q9H1Z1 hg19 CCDS4560.1 0.02 6.660902 AACxTTT COVERED NOVEL GMNN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040021.2 2 12.03562 KEEP 0 0 0 40 1234 AA 1 1 0 + 13 60 472 0 0 32.727082 180 60 6614 264 ENST00000230056.3 0.067358 1 GMNN 51053 __UNKNOWN__ __UNKNOWN__ 6 24786005 24786005 __UNKNOWN__ Missense_Mutation SNP C C T rs2307303 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:24786005C>T ENST00000230056.3 + 7 940 c.608C>T c.(607-609)aCg>aTg p.T203M GMNN_ENST00000356509.3_Missense_Mutation_p.T203M NM_015895.4 NP_056979.1 O75496 GEMI_HUMAN geminin, DNA replication inhibitor 203 NA T -> M (in dbSNP:rs2307303). mitotic cell cycle (GO:0000278)|negative regulation of cell cycle (GO:0045786)|negative regulation of DNA replication (GO:0008156)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|protein complex assembly (GO:0006461) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714) endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1) 10 TCTTCCTCTACGGATGCAAAG 0.383 NA C||| 7 0.00139776 0.0 0.0 5008 , , NA 17924 0.0069 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 126 128 127 NA NA 6 NA 24786005 2203 4300 6503 SO:0001583 missense AF067855 CCDS4560.1 6p21.32 2008-10-31 ENSG00000112312 ENSG00000112312 51053 17493 protein-coding gene gene with protein product 602842 NA 9635433 Standard NM_015895 NM_001251989 NA Approved Gem uc003nem.3 O75496 OTTHUMG00000014363 ENST00000230056.3:c.608C>T chr6.hg19:g.24786005C>T ENSP00000230056:p.Thr203Met NA B3KMM8|Q9H1Z1 hg19 CCDS4560.1 0.02 21.567833 CTAxGGA COVERED 3 0.0013736263736263737 0 0.0 0 0.0 3 0.005244755244755245 0 0.0 C 11.40 1.626694 0.28978 . . ENSG00000112312 ENST00000356509;ENST00000230056 T;T 0.12774 2.65;2.65 5.93 5.07 0.68467 . 0.604659 0.16626 N 0.206268 T 0.04318 0.0119 L 0.50333 1.59 0.09310 N 1 P 0.43938 0.822 B 0.26864 0.074 T 0.19614 -1.0300 10 0.62326 D 0.03 -4.7758 11.1123 0.48241 0.0:0.9158:0.0:0.0842 rs2307303;rs2307303 203 O75496 GEMI_HUMAN M 203 ENSP00000348902:T203M;ENSP00000230056:T203M ENSP00000230056:T203M T + 2 0 GMNN 24893984 0.000000 0.05858 0.070000 0.20053 0.752000 0.42762 0.371000 0.20450 1.533000 0.49186 -0.140000 0.14226 ACG NOVEL GMNN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040021.2 1 21.068017 KEEP 0 0 0 70 2422 CC 1 1 0 + 15 60 542 0 0 32.12279 488 60 17150 701 ENST00000230056.3 0.029821 1 RP3-369A17.5 0 __UNKNOWN__ __UNKNOWN__ 6 24797647 24797647 __UNKNOWN__ Silent SNP A A G rs2251702 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:24797647A>G ENST00000565469.1 - 2 715 c.684T>C c.(682-684)caT>caC p.H228H NM_001282492.1 NP_001269421.1 NA NA NA ACTAATTCCTATGAAAACCAA 0.358 NA G||| 2613 0.521765 0.6914 0.4625 5008 , , NA 19090 0.745 NA 0.161 False NA ,,, NA NA NA 2504 0.4755 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001819 synonymous_variant NA NA NA NA ENST00000565469.1:c.684T>C chr6.hg19:g.24797647A>G NA hg19 0.02 9.851447 CCTxTGA COVERED NOVEL RP3-369A17.5-001 PUTATIVE not_organism_supported|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000436054.1 1 6.016009 KEEP 0 0 0 20 611 AA 0.999863 0.999863 0 - 14 60 545 0 0 38.997245 191 60 6883 263 ENST00000565469.1 0.068293 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 25181627 25181627 __UNKNOWN__ IGR SNP C C T rs9379729 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:25181627C>T NA NA CMAHP (42806 upstream) : RNY5P5 (11013 downstream) NA NA NA GATGGCATGTCGACTGGCAAG 0.512 NA C||| 1292 0.257987 0.0681 0.3473 5008 , , NA 17639 0.3839 NA 0.175 False NA ,,, NA NA NA 2504 0.407 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.25181627C>T NA hg19 0.02 -0.289436 TGTxGAC COVERED NOVEL 0 1 4.513996 KEEP 0 0 0 15 495 CC 0.99649 0.758216 0 4 60 154 0 0 12.016401 29 60 1031 60 0.121212 0.760887 LRRC16A 55604 __UNKNOWN__ __UNKNOWN__ 6 25554148 25554148 __UNKNOWN__ Intron SNP T T G rs2072849 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:25554148T>G ENST00000329474.6 + 28 2872 NM_001173977.1|NM_017640.5 NP_001167448.1|NP_060110.4 Q5VZK9 LR16A_HUMAN leucine rich repeat containing 16A NA NA actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634) protein complex binding (GO:0032403) breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 50 GGAATCACAGTTGACCTTATC 0.353 NA T||| 1119 0.223442 0.1203 0.2161 5008 , , NA 21775 0.4077 NA 0.164 False NA ,,, NA NA NA 2504 0.2393 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK000055 CCDS54973.1 6p22.1 2010-09-10 2008-02-12 2008-02-12 ENSG00000079691 ENSG00000079691 55604 21581 protein-coding gene gene with protein product capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium) 609593 leucine rich repeat containing 16 LRRC16 NA 19846667 Standard NM_017640 NM_017640 NA Approved dJ501N12.1, FLJ20048, CARMIL, CARMIL1 uc011djw.2 Q5VZK9 OTTHUMG00000014393 ENST00000329474.6:c.2505-89T>G chr6.hg19:g.25554148T>G NA B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7 hg19 CCDS54973.1 0.02 3.388151 CAGxTGA COVERED NOVEL LRRC16A-001 NOVEL basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000040045.2 1 5.415072 KEEP 0 0 0 18 530 TT 0.999859 0.999859 0 + 5 60 168 0 0 9.721934 142 60 4928 172 ENST00000329474.6 0.034014 1 SLC17A4 10050 __UNKNOWN__ __UNKNOWN__ 6 25781255 25781255 __UNKNOWN__ 3'UTR SNP C C T rs147554641 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:25781255C>T ENST00000377905.4 + 0 3452 NM_005495.2 NP_005486.1 Q9Y2C5 S17A4_HUMAN solute carrier family 17, member 4 NA NA phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814) integral component of plasma membrane (GO:0005887)|membrane (GO:0016020) sodium:phosphate symporter activity (GO:0005436) breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 GCTCCATTTACAAACGTATAA 0.383 NA C||| 18 0.00359425 0.0 0.0 5008 , , NA 18468 0.0179 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB020527 CCDS4564.1, CCDS75411.1 6p22.2 2013-07-18 2013-07-18 ENSG00000146039 ENSG00000146039 10050 Solute carriers 10932 protein-coding gene gene with protein product 604216 solute carrier family 17 (sodium phosphate), member 4 NA 10319585 Standard NM_005495 NA Approved KIAA2138 uc003nfe.3 Q9Y2C5 OTTHUMG00000014410 ENST00000377905.4:c.*1839C>T chr6.hg19:g.25781255C>T NA B4DDV9|E7EPE8|E7EU17|Q32MB7|Q32MB8 hg19 CCDS4564.1 0.02 4.469765 TTAxAAA COVERED NOVEL SLC17A4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040068.1 1 5.116248 KEEP 0 0 0 17 593 CC 0.999366 0.999366 0 + 5 60 189 0 0 12.153702 121 60 4660 175 ENST00000377905.4 0.039683 1 SLC17A2 10246 __UNKNOWN__ __UNKNOWN__ 6 25913098 25913098 __UNKNOWN__ 3'UTR SNP C C T rs6932113 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:25913098C>T ENST00000360488.3 - 0 2153 SLC17A2_ENST00000377850.3_3'UTR NM_005835.2 NP_005826.1 O00624 NPT3_HUMAN solute carrier family 17, member 2 NA NA phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814) integral component of plasma membrane (GO:0005887)|membrane (GO:0016020) sodium:phosphate symporter activity (GO:0005436) endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 31 TTTACAGTTCCGATCGGTGCT 0.318 NA C||| 2004 0.40016 0.143 0.4568 5008 , , NA 15540 0.6964 NA 0.4026 False NA ,,, NA NA NA 2504 0.3998 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U90544 CCDS4567.1, CCDS69060.1 6p22.2 2013-07-18 2013-07-18 ENSG00000112337 ENSG00000112337 10246 Solute carriers 10930 protein-coding gene gene with protein product 611049 solute carrier family 17 (sodium phosphate), member 2 NA 9149941 Standard NM_001286123 NA Approved NPT3 uc003nfl.3 O00624 OTTHUMG00000014413 ENST00000360488.3:c.*425G>A chr6.hg19:g.25913098C>T NA A6NK81|A6NLD6|Q5TB84|Q76P85 hg19 CCDS4567.1 0.02 4.094734 TTCxGAT COVERED NOVEL SLC17A2-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000040074.1 1 4.248575 KEEP 0 1 31 25 870 CC 0.999957 0.999957 0 - 6 60 220 0 0 13.998891 140 60 4968 208 ENST00000360488.3 0.041096 1 SLC17A2 10246 __UNKNOWN__ __UNKNOWN__ 6 25914801 25914801 __UNKNOWN__ Missense_Mutation SNP G G A rs2071299 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:25914801G>A ENST00000265425.3 - 10 1329 c.1309C>T c.(1309-1311)Cca>Tca p.P437S SLC17A2_ENST00000360488.3_Intron|SLC17A2_ENST00000377850.3_Intron O00624 NPT3_HUMAN solute carrier family 17, member 2 437 NA phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814) integral component of plasma membrane (GO:0005887)|membrane (GO:0016020) sodium:phosphate symporter activity (GO:0005436) endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 31 caataaaCTGGCCCAACCTGA 0.448 NA G||| 2004 0.40016 0.143 0.4568 5008 , , NA 18404 0.6964 NA 0.4026 False NA ,,, NA NA NA 2504 0.3998 NA NA NA NA 0 G 818,3588 325.9+/-299.3 73,672,1458 111 92 99 1.7 0.3 6 dbSNP_96 99 3352,5248 498.4+/-374.7 671,2010,1619 no intron SLC17A2 NM_005835.2 744,2682,3077 AA,AG,GG 38.9767,18.5656,32.0621 25914801 4170,8836 2203 4300 6503 SO:0001583 missense U90544 CCDS4567.1, CCDS69060.1 6p22.2 2013-07-18 2013-07-18 ENSG00000112337 ENSG00000112337 10246 Solute carriers 10930 protein-coding gene gene with protein product 611049 solute carrier family 17 (sodium phosphate), member 2 NA 9149941 Standard NM_001286123 NA Approved NPT3 uc003nfl.3 O00624 OTTHUMG00000014413 ENST00000265425.3:c.1309C>T chr6.hg19:g.25914801G>A ENSP00000265425:p.Pro437Ser NA A6NK81|A6NLD6|Q5TB84|Q76P85 hg19 0.02 24.745375 CTGxCCC COVERED 930 0.4258241758241758 80 0.16260162601626016 147 0.40607734806629836 405 0.708041958041958 298 0.39313984168865435 G 8.236 0.805778 0.16467 0.185656 0.389767 ENSG00000112337 ENST00000265425 T 0.58940 0.3 4.5 1.68 0.24146 . . . . . T 0.09642 0.0237 . . . 0.32216 P 0.575877 . . . . . . T 0.18650 -1.0330 5 0.07482 T 0.82 . 3.1434 0.06463 0.096:0.1763:0.5453:0.1824 rs2071299;rs60110674;rs2071299 . . . S 437 ENSP00000265425:P437S ENSP00000265425:P437S P - 1 0 SLC17A2 26022780 0.003000 0.15002 0.292000 0.24919 0.996000 0.88848 0.040000 0.13905 0.366000 0.24427 0.650000 0.86243 CCA NOVEL SLC17A2-002 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000040075.1 0 10.904911 KEEP 0 2 59 57 2050 GG 1 1 0 - 18 60 610 0 0 33.916551 633 60 23750 869 ENST00000265425.3 0.02765 1 SLC17A2 10246 __UNKNOWN__ __UNKNOWN__ 6 25916979 25916979 __UNKNOWN__ Silent SNP C C T rs1865760 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:25916979C>T ENST00000265425.3 - 7 884 c.864G>A c.(862-864)ttG>ttA p.L288L SLC17A2_ENST00000360488.3_Silent_p.L288L|SLC17A2_ENST00000377850.3_Silent_p.L288L O00624 NPT3_HUMAN solute carrier family 17, member 2 288 NA phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814) integral component of plasma membrane (GO:0005887)|membrane (GO:0016020) sodium:phosphate symporter activity (GO:0005436) endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 31 TGATGGTGCACAACCAGAAAT 0.448 NA C||| 2004 0.40016 0.143 0.4568 5008 , , NA 22991 0.6964 NA 0.4026 False NA ,,, NA NA NA 2504 0.3998 NA NA NA NA 0 C 817,3589 325.6+/-299.2 73,671,1459 129 114 119 864 -5 0.9 6 dbSNP_96 119 3350,5250 498.8+/-374.8 670,2010,1620 no coding-synonymous SLC17A2 NM_005835.2 743,2681,3079 TT,TC,CC 38.9535,18.5429,32.0391 288/437 25916979 4167,8839 2203 4300 6503 SO:0001819 synonymous_variant U90544 CCDS4567.1, CCDS69060.1 6p22.2 2013-07-18 2013-07-18 ENSG00000112337 ENSG00000112337 10246 Solute carriers 10930 protein-coding gene gene with protein product 611049 solute carrier family 17 (sodium phosphate), member 2 NA 9149941 Standard NM_001286123 NA Approved NPT3 uc003nfl.3 O00624 OTTHUMG00000014413 ENST00000265425.3:c.864G>A chr6.hg19:g.25916979C>T NA A6NK81|A6NLD6|Q5TB84|Q76P85 hg19 0.02 12.595149 GCAxAAC COVERED NOVEL SLC17A2-002 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000040075.1 3 12.340478 KEEP 0 0 0 41 1471 CC 1 1 0 - 12 60 434 0 0 26.880369 310 60 11693 442 ENST00000265425.3 0.037267 1 SLC17A2 10246 __UNKNOWN__ __UNKNOWN__ 6 25924158 25924158 __UNKNOWN__ Intron SNP T T C rs1540273 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:25924158T>C ENST00000265425.3 - 2 49 SLC17A2_ENST00000360488.3_Intron|SLC17A2_ENST00000377850.3_Intron O00624 NPT3_HUMAN solute carrier family 17, member 2 NA NA phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814) integral component of plasma membrane (GO:0005887)|membrane (GO:0016020) sodium:phosphate symporter activity (GO:0005436) endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 31 CAGATGTATGTAGTGAGCATC 0.428 NA C||| 2002 0.39976 0.143 0.4568 5008 , , NA 22204 0.6954 NA 0.4026 False NA ,,, NA NA NA 2504 0.3988 NA NA NA NA 0 C 820,3586 749.0+/-412.0 73,674,1456 113 107 109 0.5 0 6 dbSNP_96 109 3353,5247 642.3+/-399.8 672,2009,1619 no intron SLC17A2 NM_005835.2 745,2683,3075 CC,CT,TT 38.9884,18.611,32.0852 25924158 4173,8833 2203 4300 6503 SO:0001627 intron_variant U90544 CCDS4567.1, CCDS69060.1 6p22.2 2013-07-18 2013-07-18 ENSG00000112337 ENSG00000112337 10246 Solute carriers 10930 protein-coding gene gene with protein product 611049 solute carrier family 17 (sodium phosphate), member 2 NA 9149941 Standard NM_001286123 NA Approved NPT3 uc003nfl.3 O00624 OTTHUMG00000014413 ENST00000265425.3:c.29-24A>G chr6.hg19:g.25924158T>C NA A6NK81|A6NLD6|Q5TB84|Q76P85 hg19 0.02 2.136489 ATGxAGT COVERED NOVEL SLC17A2-002 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000040075.1 1 3.007646 KEEP 0 0 0 10 291 TT 0.992708 0.992648 0 - 5 60 201 0 0 13.933774 92 60 3245 119 ENST00000265425.3 0.051546 0.99994 HIST1H1A 3024 __UNKNOWN__ __UNKNOWN__ 6 26017598 26017598 __UNKNOWN__ Silent SNP G G A rs34877685 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:26017598G>A ENST00000244573.3 - 1 442 c.363C>T c.(361-363)ccC>ccT p.P121P NM_005325.3 NP_005316.1 Q02539 H11_HUMAN histone cluster 1, H1a 121 NA nucleosome assembly (GO:0006334)|spermatogenesis (GO:0007283) nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786) chromatin DNA binding (GO:0031490) cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|ovary(3)|prostate(1) 13 TTGAGGCGCCGGGCTTGGTTT 0.537 NA G||| 97 0.019369 0.003 0.0403 5008 , , NA 15741 0.004 NA 0.0298 False NA ,,, NA NA NA 2504 0.0317 NA NA NA NA 0 G 19,4387 0,19,2184 84 91 89 363 1.3 0 6 dbSNP_126 89 207,8393 2,203,4095 no coding-synonymous HIST1H1A NM_005325.3 2,222,6279 AA,AG,GG 2.407,0.4312,1.7377 121/216 26017598 226,12780 2203 4300 6503 SO:0001819 synonymous_variant AF531299 CCDS4569.1 6p22.1 2012-11-16 2006-10-11 2003-02-21 ENSG00000124610 ENSG00000124610 3024 Histones / Replication-dependent 4715 protein-coding gene gene with protein product 142709 H1 histone family, member 1, histone 1, H1a H1F1 NA 2759094, 12408966 Standard NM_005325 NM_005325 NA Approved H1.1, H1a uc003nfo.3 Q02539 OTTHUMG00000016413 ENST00000244573.3:c.363C>T chr6.hg19:g.26017598G>A NA Q3MJ34 hg19 CCDS4569.1 0.02 14.15319 GCCxGGC COVERED NOVEL HIST1H1A-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000043884.1 2 72.227271 KEEP 0 0 0 240 8166 GG 1 1 0 - 13 60 493 0 0 31.568669 326 60 11061 729 ENST00000244573.3 0.038348 1 HIST1H1A 3024 __UNKNOWN__ __UNKNOWN__ 6 26017836 26017836 __UNKNOWN__ Missense_Mutation SNP G G A rs117409123 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:26017836G>A ENST00000244573.3 - 1 204 c.125C>T c.(124-126)tCc>tTc p.S42F NM_005325.3 NP_005316.1 Q02539 H11_HUMAN histone cluster 1, H1a 42 H15. {ECO:0000255|PROSITE- ProRule:PRU00837}. NA nucleosome assembly (GO:0006334)|spermatogenesis (GO:0007283) nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786) chromatin DNA binding (GO:0031490) cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|ovary(3)|prostate(1) 13 CTCTGACACGGAAGGGCCAGC 0.587 NA G||| 26 0.00519169 0.0 0.0 5008 , , NA 7916 0.004 NA 0.0 False NA ,,, NA NA NA 2504 0.0225 NA NA NA NA 0 G PHE/SER 0,4406 0,0,2203 46 44 45 125 4.2 0 6 dbSNP_133 45 5,8595 5.0+/-18.6 0,5,4295 yes missense HIST1H1A NM_005325.3 155 0,5,6498 AA,AG,GG 0.0581,0.0,0.0384 probably-damaging 42/216 26017836 5,13001 2203 4300 6503 SO:0001583 missense AF531299 CCDS4569.1 6p22.1 2012-11-16 2006-10-11 2003-02-21 ENSG00000124610 ENSG00000124610 3024 Histones / Replication-dependent 4715 protein-coding gene gene with protein product 142709 H1 histone family, member 1, histone 1, H1a H1F1 NA 2759094, 12408966 Standard NM_005325 NM_005325 NA Approved H1.1, H1a uc003nfo.3 Q02539 OTTHUMG00000016413 ENST00000244573.3:c.125C>T chr6.hg19:g.26017836G>A ENSP00000244573:p.Ser42Phe NA Q3MJ34 hg19 CCDS4569.1 0.02 20.554891 ACGxAAG COVERED 2 9.157509157509158E-4 0 0.0 0 0.0 2 0.0034965034965034965 0 0.0 g 16.78 3.218456 0.58560 0.0 5.81E-4 ENSG00000124610 ENST00000244573 T 0.26067 1.76 4.2 4.2 0.49525 Histone H1/H5 (3);Winged helix-turn-helix transcription repressor DNA-binding (1); 0.303017 0.33235 N 0.005132 T 0.52354 0.1729 H 0.94345 3.525 0.48696 D 0.999696 D 0.76494 0.999 D 0.81914 0.995 T 0.64283 -0.6444 10 0.62326 D 0.03 -16.7463 11.9136 0.52753 0.0:0.294:0.706:0.0 . 42 Q02539 H11_HUMAN F 42 ENSP00000244573:S42F ENSP00000244573:S42F S - 2 0 HIST1H1A 26125815 0.216000 0.23585 0.037000 0.18230 0.030000 0.12068 1.792000 0.38754 2.260000 0.74910 0.609000 0.83330 TCC NOVEL HIST1H1A-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000043884.1 2 98.113415 KEEP 0 0 0 326 11282 GG 1 1 0 - 19 60 685 0 0 41.895238 519 60 19450 1113 ENST00000244573.3 0.035316 1 HIST1H4B 8366 __UNKNOWN__ __UNKNOWN__ 6 26027135 26027135 __UNKNOWN__ 3'UTR SNP G G A rs3752420 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:26027135G>A ENST00000377364.3 - 0 345 NM_003544.2 NP_003535.1 P62805 H4_HUMAN histone cluster 1, H4b NA NA CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723) extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234) DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822) large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1) 13 GGGCGGCCCTGAAAAGGGCCA 0.493 NA OREG0017238 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) G||| 1962 0.391773 0.1324 0.4496 5008 , , NA 16572 0.7083 NA 0.3946 False NA ,,, NA NA NA 2504 0.3722 NA NA NA NA 0 G 844,3562 316.1+/-294.4 83,678,1442 29 31 30 -0.4 1 6 dbSNP_107 30 3471,5129 485.9+/-371.8 732,2007,1561 no utr-3 HIST1H4B NM_003544.2 815,2685,3003 AA,AG,GG 40.3605,19.1557,33.177 26027135 4315,8691 2203 4300 6503 SO:0001624 3_prime_UTR_variant X67081 CCDS4572.1 6p22.1 2011-01-27 2006-10-11 2003-02-14 ENSG00000124529 ENSG00000278705 8366 Histones / Replication-dependent 4789 protein-coding gene gene with protein product 602829 H4 histone family, member I, histone 1, H4b H4FI NA 9119399, 12408966 Standard NM_003544 NM_003544 NA Approved H4/I uc003nfr.3 P62805 OTTHUMG00000014417 ENST00000377364.3:c.*34C>T chr6.hg19:g.26027135G>A 783 A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7 hg19 CCDS4572.1 0.02 25.816302 CCTxAAA COVERED NOVEL HIST1H4B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040079.2 10 137.850391 KEEP 0 0 0 458 16392 GG 1 1 0 - 18 60 666 0 0 39.848347 601 60 23250 1484 ENST00000377364.3 0.029079 1 HIST1H4B 8366 __UNKNOWN__ __UNKNOWN__ 6 26027433 26027433 __UNKNOWN__ Silent SNP G G A rs3752419 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:26027433G>A ENST00000377364.3 - 1 47 c.48C>T c.(46-48)gcC>gcT p.A16A NM_003544.2 NP_003535.1 P62805 H4_HUMAN histone cluster 1, H4b 16 NA CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723) extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234) DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822) large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1) 13 GGTGACGCTTGGCACCTCCCT 0.542 NA G||| 1975 0.394369 0.1309 0.4524 5008 , , NA 16190 0.7123 NA 0.3956 False NA ,,, NA NA NA 2504 0.3804 NA NA NA NA 0 G 847,3559 333.6+/-303.0 82,683,1438 67 61 63 48 -9.1 0.1 6 dbSNP_107 63 3484,5116 509.7+/-377.3 735,2014,1551 no coding-synonymous HIST1H4B NM_003544.2 817,2697,2989 AA,AG,GG 40.5116,19.2238,33.3 16/104 26027433 4331,8675 2203 4300 6503 SO:0001819 synonymous_variant X67081 CCDS4572.1 6p22.1 2011-01-27 2006-10-11 2003-02-14 ENSG00000124529 ENSG00000278705 8366 Histones / Replication-dependent 4789 protein-coding gene gene with protein product 602829 H4 histone family, member I, histone 1, H4b H4FI NA 9119399, 12408966 Standard NM_003544 NM_003544 NA Approved H4/I uc003nfr.3 P62805 OTTHUMG00000014417 ENST00000377364.3:c.48C>T chr6.hg19:g.26027433G>A NA A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7 hg19 CCDS4572.1 0.02 14.81578 CTTxGCA COVERED NOVEL HIST1H4B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040079.2 3 120.617095 KEEP 0 1 26 410 14392 GG 1 1 0 - 15 60 537 0 0 33.112362 384 60 14513 1078 ENST00000377364.3 0.037594 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 26158247 26158247 __UNKNOWN__ IGR SNP G G A rs41266797 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:26158247G>A NA NA HIST1H1E (904 upstream) : HIST1H2BD (101 downstream) NA NA NA CGTTTACATTGGCATTTGTGA 0.408 NA G||| 100 0.0199681 0.0 0.0115 5008 , , NA 20408 0.0119 NA 0.0288 False NA ,,, NA NA NA 2504 0.0521 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.26158247G>A NA hg19 0.02 3.557914 ATTxGCA COVERED NOVEL 0 3 16.242714 KEEP 0 0 0 54 1860 GG 1 1 0 6 60 199 0 0 12.035333 133 60 4958 195 0.043165 1 BTN3A2 11118 __UNKNOWN__ __UNKNOWN__ 6 26365595 26365595 __UNKNOWN__ Intron SNP T T C rs12203176 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:26365595T>C ENST00000356386.2 + 1 122 BTN3A2_ENST00000532994.1_Intron|BTN3A2_ENST00000396948.1_Intron|BTN3A2_ENST00000377708.2_Intron|BTN3A2_ENST00000508906.2_Intron|BTN3A2_ENST00000527422.1_Intron|BTN3A2_ENST00000396934.3_Intron NM_001197246.2|NM_001197247.1|NM_007047.3 NP_001184175.1|NP_001184176.1|NP_008978.2 P78410 BT3A2_HUMAN butyrophilin, subfamily 3, member A2 NA NA interferon-gamma secretion (GO:0072643)|T cell mediated immunity (GO:0002456) integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5) 10 GTGCAGGAAATTGATTAGAGC 0.498 NA T||| 525 0.104832 0.1241 0.1095 5008 , , NA 18469 0.0248 NA 0.1173 False NA ,,, NA NA NA 2504 0.1452 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U90546 CCDS4605.1, CCDS56399.1, CCDS56400.1 6p22.1 2014-01-14 ENSG00000186470 ENSG00000186470 11118 Immunoglobulin superfamily / V-set domain containing, Butyrophilins 1139 protein-coding gene gene with protein product 613594 NA 9149941 Standard NM_007047 NA Approved BTN3.2 uc010jqi.2 P78410 OTTHUMG00000014450 ENST00000356386.2:c.-67+15T>C chr6.hg19:g.26365595T>C NA B4DRT7|B4E103|F5H791|F8W6E0|O00477|O15338|O75658|Q76PA0|Q9BU81|Q9NR44 hg19 CCDS4605.1 0.02 15.749589 AAAxTGA COVERED NOVEL BTN3A2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040113.2 3 40.308122 KEEP 0 0 0 134 4284 TT 1 1 0 + 10 60 377 0 0 22.627465 351 60 12673 640 ENST00000356386.2 0.027701 1 BTN3A2 11118 __UNKNOWN__ __UNKNOWN__ 6 26368938 26368938 __UNKNOWN__ Silent SNP C C T rs76764747 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:26368938C>T ENST00000356386.2 + 4 419 c.231C>T c.(229-231)aaC>aaT p.N77N BTN3A2_ENST00000532994.1_Intron|BTN3A2_ENST00000396948.1_Silent_p.N77N|BTN3A2_ENST00000377708.2_Silent_p.N77N|BTN3A2_ENST00000508906.2_Silent_p.N35N|BTN3A2_ENST00000527422.1_Silent_p.N77N|BTN3A2_ENST00000396934.3_Silent_p.N54N NM_001197246.2|NM_001197247.1|NM_007047.3 NP_001184175.1|NP_001184176.1|NP_008978.2 P78410 BT3A2_HUMAN butyrophilin, subfamily 3, member A2 77 Ig-like V-type. NA interferon-gamma secretion (GO:0072643)|T cell mediated immunity (GO:0002456) integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5) 10 AGGTGGTGAACGTGTATGCAG 0.557 NA NA NA NA NA NA NA NA NA NA NA 0 309 219 250 NA NA 6 NA 26368938 2202 4297 6499 SO:0001819 synonymous_variant U90546 CCDS4605.1, CCDS56399.1, CCDS56400.1 6p22.1 2014-01-14 ENSG00000186470 ENSG00000186470 11118 Immunoglobulin superfamily / V-set domain containing, Butyrophilins 1139 protein-coding gene gene with protein product 613594 NA 9149941 Standard NM_007047 NA Approved BTN3.2 uc010jqi.2 P78410 OTTHUMG00000014450 ENST00000356386.2:c.231C>T chr6.hg19:g.26368938C>T NA B4DRT7|B4E103|F5H791|F8W6E0|O00477|O15338|O75658|Q76PA0|Q9BU81|Q9NR44 hg19 CCDS4605.1 0.02 8.161947 GAAxGTG COVERED NOVEL BTN3A2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040113.2 2 3.610005 KEEP 17 0 0 12 360 CC 0.993072 0.993072 0 + 7 50 252 0 0 14.98236 220 50 6901 262 ENST00000356386.2 0.030837 1 BTN3A2 11118 __UNKNOWN__ __UNKNOWN__ 6 26370605 26370605 __UNKNOWN__ Silent SNP T T C rs9379860 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:26370605T>C ENST00000356386.2 + 5 677 c.489T>C c.(487-489)caT>caC p.H163H BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000396948.1_Silent_p.H163H|BTN3A2_ENST00000377708.2_Silent_p.H163H|BTN3A2_ENST00000508906.2_Silent_p.H121H|BTN3A2_ENST00000527422.1_Silent_p.H163H|BTN3A2_ENST00000396934.3_Silent_p.H140H NM_001197246.2|NM_001197247.1|NM_007047.3 NP_001184175.1|NP_001184176.1|NP_008978.2 P78410 BT3A2_HUMAN butyrophilin, subfamily 3, member A2 163 NA interferon-gamma secretion (GO:0072643)|T cell mediated immunity (GO:0002456) integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5) 10 GAGGGATCCATCTGGAGTGCA 0.522 NA T||| 1755 0.350439 0.4266 0.3098 5008 , , NA 18970 0.2232 NA 0.4135 False NA ,,, NA NA NA 2504 0.3425 NA NA NA NA 0 T ,,,, 1865,2541 540.1+/-375.4 382,1101,720 115 102 107 489,489,420,363,489 -4.6 0 6 dbSNP_119 107 3406,5194 503.8+/-376.0 658,2090,1552 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous BTN3A2 NM_001197246.1,NM_001197247.1,NM_001197248.1,NM_001197249.1,NM_007047.3 ,,,, 1040,3191,2272 CC,CT,TT 39.6047,42.3286,40.5274 ,,,, 163/335,163/335,140/312,121/293,163/335 26370605 5271,7735 2203 4300 6503 SO:0001819 synonymous_variant U90546 CCDS4605.1, CCDS56399.1, CCDS56400.1 6p22.1 2014-01-14 ENSG00000186470 ENSG00000186470 11118 Immunoglobulin superfamily / V-set domain containing, Butyrophilins 1139 protein-coding gene gene with protein product 613594 NA 9149941 Standard NM_007047 NA Approved BTN3.2 uc010jqi.2 P78410 OTTHUMG00000014450 ENST00000356386.2:c.489T>C chr6.hg19:g.26370605T>C NA B4DRT7|B4E103|F5H791|F8W6E0|O00477|O15338|O75658|Q76PA0|Q9BU81|Q9NR44 hg19 CCDS4605.1 0.02 8.402304 CCAxCTG COVERED NOVEL BTN3A2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040113.2 2 14.959482 KEEP 0 1 32 61 1914 TT 1 1 0 + 8 60 278 0 0 16.447853 237 60 8632 377 ENST00000356386.2 0.032653 1 BTN3A2 11118 __UNKNOWN__ __UNKNOWN__ 6 26370707 26370707 __UNKNOWN__ Silent SNP T T C rs9379862 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:26370707T>C ENST00000356386.2 + 5 779 c.591T>C c.(589-591)gaT>gaC p.D197D BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000396948.1_Silent_p.D197D|BTN3A2_ENST00000377708.2_Silent_p.D197D|BTN3A2_ENST00000508906.2_Silent_p.D155D|BTN3A2_ENST00000527422.1_Silent_p.D197D|BTN3A2_ENST00000396934.3_Silent_p.D174D NM_001197246.2|NM_001197247.1|NM_007047.3 NP_001184175.1|NP_001184176.1|NP_008978.2 P78410 BT3A2_HUMAN butyrophilin, subfamily 3, member A2 197 NA interferon-gamma secretion (GO:0072643)|T cell mediated immunity (GO:0002456) integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5) 10 TGGTTGCAGATGGAGTGGGCC 0.567 NA t||| 1182 0.236022 0.3109 0.1931 5008 , , NA 18947 0.124 NA 0.2396 False NA ,,, NA NA NA 2504 0.2771 NA NA NA NA 0 C ,,,, 1355,3051 203,949,1051 153 143 146 591,591,522,465,591 -4.6 0 6 dbSNP_119 146 2112,6488 249,1614,2437 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous BTN3A2 NM_001197246.1,NM_001197247.1,NM_001197248.1,NM_001197249.1,NM_007047.3 ,,,, 452,2563,3488 CC,CT,TT 24.5581,30.7535,26.6569 ,,,, 197/335,197/335,174/312,155/293,197/335 26370707 3467,9539 2203 4300 6503 SO:0001819 synonymous_variant U90546 CCDS4605.1, CCDS56399.1, CCDS56400.1 6p22.1 2014-01-14 ENSG00000186470 ENSG00000186470 11118 Immunoglobulin superfamily / V-set domain containing, Butyrophilins 1139 protein-coding gene gene with protein product 613594 NA 9149941 Standard NM_007047 NA Approved BTN3.2 uc010jqi.2 P78410 OTTHUMG00000014450 ENST00000356386.2:c.591T>C chr6.hg19:g.26370707T>C NA B4DRT7|B4E103|F5H791|F8W6E0|O00477|O15338|O75658|Q76PA0|Q9BU81|Q9NR44 hg19 CCDS4605.1 0.02 10.425974 AGAxGGA COVERED NOVEL BTN3A2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040113.2 2 3.347291 KEEP 0 4 137 59 1815 TT 1 1 0 + 11 60 389 0 0 23.72949 286 60 10320 421 ENST00000356386.2 0.037037 1 BTN3A2 11118 __UNKNOWN__ __UNKNOWN__ 6 26370748 26370748 __UNKNOWN__ Missense_Mutation SNP G G A rs35183513 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:26370748G>A ENST00000356386.2 + 5 820 c.632G>A c.(631-633)aGa>aAa p.R211K BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000396948.1_Missense_Mutation_p.R211K|BTN3A2_ENST00000377708.2_Missense_Mutation_p.R211K|BTN3A2_ENST00000508906.2_Missense_Mutation_p.R169K|BTN3A2_ENST00000527422.1_Missense_Mutation_p.R211K|BTN3A2_ENST00000396934.3_Missense_Mutation_p.R188K NM_001197246.2|NM_001197247.1|NM_007047.3 NP_001184175.1|NP_001184176.1|NP_008978.2 P78410 BT3A2_HUMAN butyrophilin, subfamily 3, member A2 211 NA R -> K (in dbSNP:rs35183513). RG -> KS (in Ref. 3; AAF76140). {ECO:0000305}. interferon-gamma secretion (GO:0072643)|T cell mediated immunity (GO:0002456) integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5) 10 GTGATCATGAGAGGCGGCTCC 0.557 NA G||| 524 0.104633 0.1233 0.1095 5008 , , NA 18498 0.0248 NA 0.1173 False NA ,,, NA NA NA 2504 0.1452 NA NA NA NA 0 G LYS/ARG,LYS/ARG,LYS/ARG,LYS/ARG,LYS/ARG 646,3760 279.0+/-274.6 43,560,1600 145 141 142 632,632,563,506,632 1.2 0 6 dbSNP_126 142 1062,7538 224.5+/-260.9 66,930,3304 yes missense,missense,missense,missense,missense BTN3A2 NM_001197246.1,NM_001197247.1,NM_001197248.1,NM_001197249.1,NM_007047.3 26,26,26,26,26 109,1490,4904 AA,AG,GG 12.3488,14.6618,13.1324 benign,benign,benign,benign,benign 211/335,211/335,188/312,169/293,211/335 26370748 1708,11298 2203 4300 6503 SO:0001583 missense U90546 CCDS4605.1, CCDS56399.1, CCDS56400.1 6p22.1 2014-01-14 ENSG00000186470 ENSG00000186470 11118 Immunoglobulin superfamily / V-set domain containing, Butyrophilins 1139 protein-coding gene gene with protein product 613594 NA 9149941 Standard NM_007047 NA Approved BTN3.2 uc010jqi.2 P78410 OTTHUMG00000014450 ENST00000356386.2:c.632G>A chr6.hg19:g.26370748G>A ENSP00000348751:p.Arg211Lys NA B4DRT7|B4E103|F5H791|F8W6E0|O00477|O15338|O75658|Q76PA0|Q9BU81|Q9NR44 hg19 CCDS4605.1 0.02 12.099995 TGAxAGG COVERED 207 0.09478021978021978 67 0.13617886178861788 45 0.12430939226519337 10 0.017482517482517484 85 0.11213720316622691 g 10.17 1.277326 0.23307 0.146618 0.123488 ENSG00000186470 ENST00000532865;ENST00000535620;ENST00000527422;ENST00000356386;ENST00000396934;ENST00000377708;ENST00000396948;ENST00000508906 T;T;T;T;T;T;T 0.75938 -0.98;3.34;3.34;3.34;3.34;3.34;3.34 2.31 1.22 0.21188 Immunoglobulin-like fold (1); . . . . T 0.41604 0.1166 L 0.38649 1.16 0.80722 P 0.0 B;B 0.09022 0.002;0.002 B;B 0.08055 0.003;0.002 T 0.15492 -1.0435 8 0.66056 D 0.02 . 4.3959 0.11363 0.2525:0.0:0.7475:0.0 rs35183513 188;211 F8W6E0;P78410 .;BT3A2_HUMAN K 169;211;211;211;188;211;211;169 ENSP00000435952:R169K;ENSP00000432138:R211K;ENSP00000348751:R211K;ENSP00000380140:R188K;ENSP00000366937:R211K;ENSP00000380152:R211K;ENSP00000442687:R169K ENSP00000348751:R211K R + 2 0 BTN3A2 26478727 0.000000 0.05858 0.006000 0.13384 0.282000 0.26991 -0.711000 0.05019 0.351000 0.24027 0.405000 0.27470 AGA NOVEL BTN3A2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040113.2 1 25.282605 KEEP 0 0 0 84 3004 GG 1 1 0 + 12 60 426 0 0 25.888948 322 60 12208 515 ENST00000356386.2 0.035928 1 BTN3A2 11118 __UNKNOWN__ __UNKNOWN__ 6 26370920 26370920 __UNKNOWN__ Intron SNP T T C rs55827419 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:26370920T>C ENST00000356386.2 + 5 903 BTN3A2_ENST00000532994.1_Intron|BTN3A2_ENST00000396948.1_Intron|BTN3A2_ENST00000377708.2_Intron|BTN3A2_ENST00000508906.2_Intron|BTN3A2_ENST00000527422.1_Intron|BTN3A2_ENST00000396934.3_Intron NM_001197246.2|NM_001197247.1|NM_007047.3 NP_001184175.1|NP_001184176.1|NP_008978.2 P78410 BT3A2_HUMAN butyrophilin, subfamily 3, member A2 NA NA interferon-gamma secretion (GO:0072643)|T cell mediated immunity (GO:0002456) integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5) 10 TCGACCTGGGTCTCTGCACTG 0.498 NA T||| 658 0.13139 0.2118 0.1297 5008 , , NA 15811 0.0248 NA 0.1203 False NA ,,, NA NA NA 2504 0.1452 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U90546 CCDS4605.1, CCDS56399.1, CCDS56400.1 6p22.1 2014-01-14 ENSG00000186470 ENSG00000186470 11118 Immunoglobulin superfamily / V-set domain containing, Butyrophilins 1139 protein-coding gene gene with protein product 613594 NA 9149941 Standard NM_007047 NA Approved BTN3.2 uc010jqi.2 P78410 OTTHUMG00000014450 ENST00000356386.2:c.715+89T>C chr6.hg19:g.26370920T>C NA B4DRT7|B4E103|F5H791|F8W6E0|O00477|O15338|O75658|Q76PA0|Q9BU81|Q9NR44 hg19 CCDS4605.1 0.02 4.414411 GGGxCTC COVERED NOVEL BTN3A2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040113.2 1 6.618746 KEEP 0 0 0 22 686 TT 0.999879 0.999878 0 + 5 60 182 0 0 11.563431 115 60 4147 159 ENST00000356386.2 0.041667 0.999999 BTN3A2 11118 __UNKNOWN__ __UNKNOWN__ 6 26376161 26376161 __UNKNOWN__ 3'UTR SNP A A G rs1985732 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:26376161A>G ENST00000377708.2 + 0 1331 BTN3A2_ENST00000508906.2_3'UTR|BTN3A2_ENST00000396934.3_3'UTR|BTN3A2_ENST00000356386.2_Intron P78410 BT3A2_HUMAN butyrophilin, subfamily 3, member A2 NA NA interferon-gamma secretion (GO:0072643)|T cell mediated immunity (GO:0002456) integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5) 10 GAGggccagcacagcagctca 0.478 NA G||| 1336 0.266773 0.3343 0.2176 5008 , , NA 16882 0.129 NA 0.2932 False NA ,,, NA NA NA 2504 0.3252 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U90546 CCDS4605.1, CCDS56399.1, CCDS56400.1 6p22.1 2014-01-14 ENSG00000186470 ENSG00000186470 11118 Immunoglobulin superfamily / V-set domain containing, Butyrophilins 1139 protein-coding gene gene with protein product 613594 NA 9149941 Standard NM_007047 NA Approved BTN3.2 uc010jqi.2 P78410 OTTHUMG00000014450 ENST00000377708.2:c.*171A>G chr6.hg19:g.26376161A>G NA B4DRT7|B4E103|F5H791|F8W6E0|O00477|O15338|O75658|Q76PA0|Q9BU81|Q9NR44 hg19 CCDS4605.1 0.02 12.909491 AGCxCAG COVERED NOVEL BTN3A2-002 KNOWN alternative_3_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040114.1 5 23.167883 KEEP 0 0 0 77 2364 AA 1 1 0 + 13 60 474 0 0 29.58569 331 60 11845 511 ENST00000377708.2 0.037791 1 BTN2A2 10385 __UNKNOWN__ __UNKNOWN__ 6 26390963 26390963 __UNKNOWN__ Intron SNP C C T rs41266835 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:26390963C>T ENST00000432533.2 + 5 756 BTN2A2_ENST00000356709.4_Intron|BTN2A2_ENST00000482536.1_Intron|BTN2A2_ENST00000352867.2_Intron|BTN2A2_ENST00000469230.1_Intron|BTN2A2_ENST00000416795.2_Intron Q8WVV5 BT2A2_HUMAN butyrophilin, subfamily 2, member A2 NA NA negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cellular metabolic process (GO:0031324)|negative regulation of cytokine secretion (GO:0050710) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) breast(2)|endometrium(3)|large_intestine(5)|lung(13) 23 TGAACTACTCCGTGTACAATT 0.403 NA C||| 528 0.105431 0.1051 0.1268 5008 , , NA 25126 0.0298 NA 0.1193 False NA ,,, NA NA NA 2504 0.1544 NA NA NA NA 0 C ,,,,, 559,3847 28,503,1672 309 267 282 ,,,,, -2.7 0 6 dbSNP_127 282 1104,7496 74,956,3270 no intron,intron,intron,intron,intron,intron BTN2A2 NM_001197237.1,NM_001197238.1,NM_001197239.1,NM_001197240.1,NM_006995.4,NM_181531.2 ,,,,, 102,1459,4942 TT,TC,CC 12.8372,12.6872,12.7864 ,,,,, ,,,,, 26390963 1663,11343 2203 4300 6503 SO:0001627 intron_variant U90550 CCDS4606.1, CCDS4607.1, CCDS56401.1, CCDS56402.1, CCDS56403.1 6p22.1 2014-01-14 ENSG00000124508 ENSG00000124508 10385 Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Butyrophilins 1137 protein-coding gene gene with protein product 613591 NA 10354554, 9149941 Standard NM_006995 NA Approved BTF2, BT2.2, BTN2.2 uc003nhq.3 Q8WVV5 OTTHUMG00000014452 ENST00000432533.2:c.670+28C>T chr6.hg19:g.26390963C>T NA A6NM84|B4DE97|B4DQ01|E9PH07|O00480 hg19 CCDS56402.1 0.02 12.454617 CTCxGTG COVERED NOVEL BTN2A2-005 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000353988.1 1 20.098122 KEEP 0 1 29 77 2624 CC 1 1 0 + 9 60 335 0 0 19.76381 330 60 11491 514 ENST00000432533.2 0.026549 1 BTN2A2 10385 __UNKNOWN__ __UNKNOWN__ 6 26391153 26391153 __UNKNOWN__ Intron SNP C C G rs9467748 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:26391153C>G ENST00000432533.2 + 6 783 BTN2A2_ENST00000356709.4_Intron|BTN2A2_ENST00000482536.1_Intron|BTN2A2_ENST00000352867.2_Intron|BTN2A2_ENST00000469230.1_Intron|BTN2A2_ENST00000416795.2_Intron Q8WVV5 BT2A2_HUMAN butyrophilin, subfamily 2, member A2 NA NA negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cellular metabolic process (GO:0031324)|negative regulation of cytokine secretion (GO:0050710) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) breast(2)|endometrium(3)|large_intestine(5)|lung(13) 23 CCCAGGGCTACACAGGGACCA 0.542 NA G||| 1543 0.308107 0.671 0.2522 5008 , , NA 19190 0.0724 NA 0.1859 False NA ,,, NA NA NA 2504 0.226 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U90550 CCDS4606.1, CCDS4607.1, CCDS56401.1, CCDS56402.1, CCDS56403.1 6p22.1 2014-01-14 ENSG00000124508 ENSG00000124508 10385 Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Butyrophilins 1137 protein-coding gene gene with protein product 613591 NA 10354554, 9149941 Standard NM_006995 NA Approved BTF2, BT2.2, BTN2.2 uc003nhq.3 Q8WVV5 OTTHUMG00000014452 ENST00000432533.2:c.697+96C>G chr6.hg19:g.26391153C>G NA A6NM84|B4DE97|B4DQ01|E9PH07|O00480 hg19 CCDS56402.1 0.02 17.883348 CTAxACA COVERED NOVEL BTN2A2-005 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000353988.1 1 16.554442 KEEP 0 0 0 55 1996 CC 1 1 0 + 11 60 419 0 0 24.998937 413 60 15835 591 ENST00000432533.2 0.025943 1 BTN2A2 10385 __UNKNOWN__ __UNKNOWN__ 6 26392934 26392934 __UNKNOWN__ Silent SNP C C T rs2072802 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:26392934C>T ENST00000482536.1 + 6 767 c.681C>T c.(679-681)ctC>ctT p.L227L BTN2A2_ENST00000356709.4_Silent_p.L437L|BTN2A2_ENST00000432533.2_3'UTR|BTN2A2_ENST00000352867.2_Silent_p.L321L|BTN2A2_ENST00000469230.1_Intron|BTN2A2_ENST00000416795.2_Silent_p.L437L Q8WVV5 BT2A2_HUMAN butyrophilin, subfamily 2, member A2 437 Ig-like C2-type. NA negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cellular metabolic process (GO:0031324)|negative regulation of cytokine secretion (GO:0050710) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) breast(2)|endometrium(3)|large_intestine(5)|lung(13) 23 AGAGGATTCTCCCTTTGAAGG 0.537 NA C||| 93 0.0185703 0.0113 0.0173 5008 , , NA 18287 0.0238 NA 0.0109 False NA ,,, NA NA NA 2504 0.0317 NA NA NA NA 0 C ,,,,, 51,4355 1,49,2153 98 95 96 1311,,681,,1311,963 -3.1 0 6 dbSNP_96 96 130,8470 0,130,4170 no coding-synonymous,intron,coding-synonymous,utr-3,coding-synonymous,coding-synonymous BTN2A2 NM_001197237.1,NM_001197238.1,NM_001197239.1,NM_001197240.1,NM_006995.4,NM_181531.2 ,,,,, 1,179,6323 TT,TC,CC 1.5116,1.1575,1.3917 ,,,,, 437/524,,227/314,,437/524,321/408 26392934 181,12825 2203 4300 6503 SO:0001819 synonymous_variant U90550 CCDS4606.1, CCDS4607.1, CCDS56401.1, CCDS56402.1, CCDS56403.1 6p22.1 2014-01-14 ENSG00000124508 ENSG00000124508 10385 Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Butyrophilins 1137 protein-coding gene gene with protein product 613591 NA 10354554, 9149941 Standard NM_006995 NA Approved BTF2, BT2.2, BTN2.2 uc003nhq.3 Q8WVV5 OTTHUMG00000014452 ENST00000482536.1:c.681C>T chr6.hg19:g.26392934C>T NA A6NM84|B4DE97|B4DQ01|E9PH07|O00480 hg19 CCDS56403.1 0.02 25.39399 TCTxCCT COVERED NOVEL BTN2A2-004 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000353987.1 5 18.794389 KEEP 2 1 24 71 2498 CC 1 1 0 + 18 60 645 0 0 37.730041 605 60 22174 827 ENST00000482536.1 0.028892 1 BTN2A2 10385 __UNKNOWN__ __UNKNOWN__ 6 26393021 26393021 __UNKNOWN__ Silent SNP G G A rs1614887 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:26393021G>A ENST00000482536.1 + 6 854 c.768G>A c.(766-768)tcG>tcA p.S256S BTN2A2_ENST00000356709.4_Silent_p.S466S|BTN2A2_ENST00000432533.2_3'UTR|BTN2A2_ENST00000352867.2_Silent_p.S350S|BTN2A2_ENST00000469230.1_Intron|BTN2A2_ENST00000416795.2_Silent_p.S466S Q8WVV5 BT2A2_HUMAN butyrophilin, subfamily 2, member A2 466 NA negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cellular metabolic process (GO:0031324)|negative regulation of cytokine secretion (GO:0050710) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) breast(2)|endometrium(3)|large_intestine(5)|lung(13) 23 GGGACAGATCGCACATCTACA 0.537 NA g||| 2903 0.579673 0.9115 0.5029 5008 , , NA 19434 0.3323 NA 0.5785 False NA ,,, NA NA NA 2504 0.4417 NA NA NA NA 0 A ,,,,, 3750,656 1599,552,52 134 117 123 1398,,768,,1398,1050 -7.3 0.6 6 dbSNP_89 123 4658,3942 1281,2096,923 no coding-synonymous,intron,coding-synonymous,utr-3,coding-synonymous,coding-synonymous BTN2A2 NM_001197237.1,NM_001197238.1,NM_001197239.1,NM_001197240.1,NM_006995.4,NM_181531.2 ,,,,, 2880,2648,975 AA,AG,GG 45.8372,14.8888,35.3529 ,,,,, 466/524,,256/314,,466/524,350/408 26393021 8408,4598 2203 4300 6503 SO:0001819 synonymous_variant U90550 CCDS4606.1, CCDS4607.1, CCDS56401.1, CCDS56402.1, CCDS56403.1 6p22.1 2014-01-14 ENSG00000124508 ENSG00000124508 10385 Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Butyrophilins 1137 protein-coding gene gene with protein product 613591 NA 10354554, 9149941 Standard NM_006995 NA Approved BTF2, BT2.2, BTN2.2 uc003nhq.3 Q8WVV5 OTTHUMG00000014452 ENST00000482536.1:c.768G>A chr6.hg19:g.26393021G>A NA A6NM84|B4DE97|B4DQ01|E9PH07|O00480 hg19 CCDS56403.1 0.02 20.973467 ATCxCAC COVERED NOVEL BTN2A2-004 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000353987.1 5 12.506985 KEEP 3 2 58 62 2094 GG 1 1 0 + 17 60 616 0 0 36.993247 519 60 17916 709 ENST00000482536.1 0.031716 1 BTN3A1 11119 __UNKNOWN__ __UNKNOWN__ 6 26405835 26405835 __UNKNOWN__ Missense_Mutation SNP G G A rs56161420 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:26405835G>A ENST00000289361.6 + 2 412 c.44G>A c.(43-45)cGt>cAt p.R15H BTN3A1_ENST00000414912.2_Missense_Mutation_p.R15H|BTN3A1_ENST00000425234.2_Missense_Mutation_p.R15H|BTN3A1_ENST00000476549.2_Missense_Mutation_p.R15H NM_001145008.1|NM_001145009.1|NM_007048.5 NP_001138480.1|NP_001138481.1|NP_008979.3 O00481 BT3A1_HUMAN butyrophilin, subfamily 3, member A1 15 NA R -> H (in dbSNP:rs56161420). {ECO:0000269|PubMed:14702039}. activated T cell proliferation (GO:0050798)|cytokine secretion (GO:0050663)|interferon-gamma secretion (GO:0072643)|T cell receptor signaling pathway (GO:0050852) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 CTCAACTTTCGTGTCTGCCTC 0.473 NA G||| 720 0.14377 0.1619 0.1643 5008 , , NA 20713 0.0308 NA 0.165 False NA ,,, NA NA NA 2504 0.1994 NA NA NA NA 0 G HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG 787,3619 66,655,1482 241 185 204 44,44,44,44 -3.2 0 6 dbSNP_129 204 1477,7123 126,1225,2949 yes missense,missense,missense,missense BTN3A1 NM_001145008.1,NM_001145009.1,NM_007048.5,NM_194441.2 29,29,29,29 192,1880,4431 AA,AG,GG 17.1744,17.862,17.4074 benign,benign,benign,benign 15/462,15/379,15/514,15/353 26405835 2264,10742 2203 4300 6503 SO:0001583 missense U90552 CCDS4608.1, CCDS4609.1, CCDS47388.1, CCDS47389.1 6p22.1 2014-01-14 ENSG00000026950 ENSG00000026950 11119 CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Butyrophilins 1138 protein-coding gene gene with protein product 613593 NA 9149941 Standard NM_007048 NA Approved BT3.1, BTF5, CD277, BTN3.1 uc003nhv.3 O00481 OTTHUMG00000014449 ENST00000289361.6:c.44G>A chr6.hg19:g.26405835G>A ENSP00000289361:p.Arg15His NA A2A278|A8K2C8|B4DIQ1|B4DRM2|E9PGB4|E9PHG8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1 hg19 CCDS4608.1 0.02 19.816941 TTCxTGT COVERED 291 0.13324175824175824 94 0.1910569105691057 60 0.16574585635359115 12 0.02097902097902098 125 0.16490765171503957 . 4.425 0.078648 0.08533 0.17862 0.171744 ENSG00000026950 ENST00000476549;ENST00000289361;ENST00000450085;ENST00000425234;ENST00000427334;ENST00000506698;ENST00000414912 T;T;T;T;T;T;T 0.46451 3.98;1.21;3.42;3.96;0.95;2.55;0.87 1.58 -3.16 0.05217 . . . . . T 0.03011 0.0089 N 0.00621 -1.32 0.80722 P 0.0 B;B;B;B 0.06786 0.0;0.001;0.0;0.0 B;B;B;B 0.04013 0.0;0.001;0.0;0.0 T 0.36841 -0.9731 8 0.39692 T 0.17 . 2.4136 0.04430 0.2889:0.0:0.2541:0.457 rs56161420 15;15;15;15 E9PGB4;O00481-3;O00481-2;O00481 .;.;.;BT3A1_HUMAN H 15 ENSP00000420010:R15H;ENSP00000289361:R15H;ENSP00000394937:R15H;ENSP00000396684:R15H;ENSP00000399393:R15H;ENSP00000427013:R15H;ENSP00000406667:R15H ENSP00000289361:R15H R + 2 0 BTN3A1 26513814 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -0.000000 0.12993 -0.905000 0.03871 -1.935000 0.00506 CGT NOVEL BTN3A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040112.3 6 30.096654 KEEP 0 0 0 100 3459 GG 1 1 0 + 14 60 519 0 0 31.48309 438 60 15804 658 ENST00000289361.6 0.030973 1 BTN3A1 11119 __UNKNOWN__ __UNKNOWN__ 6 26405990 26405990 __UNKNOWN__ Intron SNP G G A rs17610161 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:26405990G>A ENST00000289361.6 + 2 453 BTN3A1_ENST00000414912.2_Intron|BTN3A1_ENST00000425234.2_Intron|BTN3A1_ENST00000476549.2_Intron NM_001145008.1|NM_001145009.1|NM_007048.5 NP_001138480.1|NP_001138481.1|NP_008979.3 O00481 BT3A1_HUMAN butyrophilin, subfamily 3, member A1 NA NA activated T cell proliferation (GO:0050798)|cytokine secretion (GO:0050663)|interferon-gamma secretion (GO:0072643)|T cell receptor signaling pathway (GO:0050852) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 AGGTTCACCCGTCACTAAGAG 0.468 NA G||| 498 0.0994409 0.0946 0.1297 5008 , , NA 23160 0.0288 NA 0.1123 False NA ,,, NA NA NA 2504 0.1442 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U90552 CCDS4608.1, CCDS4609.1, CCDS47388.1, CCDS47389.1 6p22.1 2014-01-14 ENSG00000026950 ENSG00000026950 11119 CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Butyrophilins 1138 protein-coding gene gene with protein product 613593 NA 9149941 Standard NM_007048 NA Approved BT3.1, BTF5, CD277, BTN3.1 uc003nhv.3 O00481 OTTHUMG00000014449 ENST00000289361.6:c.85+114G>A chr6.hg19:g.26405990G>A NA A2A278|A8K2C8|B4DIQ1|B4DRM2|E9PGB4|E9PHG8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1 hg19 CCDS4608.1 0.02 8.07035 CCCxTCA COVERED NOVEL BTN3A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040112.3 2 7.802878 KEEP 0 0 0 26 788 GG 0.999957 0.999957 0 + 10 60 362 0 0 23.193159 216 60 7234 256 ENST00000289361.6 0.044248 1 BTN3A1 11119 __UNKNOWN__ __UNKNOWN__ 6 26410227 26410227 __UNKNOWN__ Intron SNP G G A rs7770214 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:26410227G>A ENST00000289361.6 + 7 1305 BTN3A1_ENST00000414912.2_Intron|BTN3A1_ENST00000425234.2_Intron|BTN3A1_ENST00000476549.2_Intron NM_001145008.1|NM_001145009.1|NM_007048.5 NP_001138480.1|NP_001138481.1|NP_008979.3 O00481 BT3A1_HUMAN butyrophilin, subfamily 3, member A1 NA NA activated T cell proliferation (GO:0050798)|cytokine secretion (GO:0050663)|interferon-gamma secretion (GO:0072643)|T cell receptor signaling pathway (GO:0050852) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 TGTTCCTTCCGTTGCAGGATG 0.478 NA A||| 733 0.146366 0.1611 0.1801 5008 , , NA 17899 0.0308 NA 0.166 False NA ,,, NA NA NA 2504 0.2014 NA NA NA NA 0 A ,,, 787,3619 67,653,1483 232 211 218 ,,, 1.3 0.2 6 dbSNP_116 218 1459,7141 126,1207,2967 no intron,intron,intron,intron BTN3A1 NM_001145008.1,NM_001145009.1,NM_007048.5,NM_194441.2 ,,, 193,1860,4450 AA,AG,GG 16.9651,17.862,17.269 ,,, ,,, 26410227 2246,10760 2203 4300 6503 SO:0001627 intron_variant U90552 CCDS4608.1, CCDS4609.1, CCDS47388.1, CCDS47389.1 6p22.1 2014-01-14 ENSG00000026950 ENSG00000026950 11119 CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Butyrophilins 1138 protein-coding gene gene with protein product 613593 NA 9149941 Standard NM_007048 NA Approved BT3.1, BTF5, CD277, BTN3.1 uc003nhv.3 O00481 OTTHUMG00000014449 ENST00000289361.6:c.938-7G>A chr6.hg19:g.26410227G>A NA A2A278|A8K2C8|B4DIQ1|B4DRM2|E9PGB4|E9PHG8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1 hg19 CCDS4608.1 0.02 14.234424 TCCxTTG COVERED NOVEL BTN3A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040112.3 2 28.426345 KEEP 0 1 33 106 3665 GG 1 1 0 + 11 60 406 0 0 24.018065 386 60 13639 628 ENST00000289361.6 0.027708 1 BTN3A1 11119 __UNKNOWN__ __UNKNOWN__ 6 26413088 26413088 __UNKNOWN__ Intron SNP T T C rs6900725 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:26413088T>C ENST00000289361.6 + 10 1386 BTN3A1_ENST00000414912.2_Intron|BTN3A1_ENST00000425234.2_3'UTR|BTN3A1_ENST00000476549.2_3'UTR NM_001145008.1|NM_001145009.1|NM_007048.5 NP_001138480.1|NP_001138481.1|NP_008979.3 O00481 BT3A1_HUMAN butyrophilin, subfamily 3, member A1 NA NA activated T cell proliferation (GO:0050798)|cytokine secretion (GO:0050663)|interferon-gamma secretion (GO:0072643)|T cell receptor signaling pathway (GO:0050852) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 GCAGAGTGAATATGGGGAGGG 0.453 NA T||| 733 0.146366 0.1611 0.1801 5008 , , NA 20529 0.0308 NA 0.166 False NA ,,, NA NA NA 2504 0.2014 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U90552 CCDS4608.1, CCDS4609.1, CCDS47388.1, CCDS47389.1 6p22.1 2014-01-14 ENSG00000026950 ENSG00000026950 11119 CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Butyrophilins 1138 protein-coding gene gene with protein product 613593 NA 9149941 Standard NM_007048 NA Approved BT3.1, BTF5, CD277, BTN3.1 uc003nhv.3 O00481 OTTHUMG00000014449 ENST00000289361.6:c.1019-309T>C chr6.hg19:g.26413088T>C NA A2A278|A8K2C8|B4DIQ1|B4DRM2|E9PGB4|E9PHG8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1 hg19 CCDS4608.1 0.02 24.729477 GAAxATG COVERED NOVEL BTN3A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040112.3 4 22.565463 KEEP 0 0 0 75 2293 TT 1 1 0 + 17 60 652 0 0 39.776177 580 60 20818 777 ENST00000289361.6 0.028476 1 BTN3A1 11119 __UNKNOWN__ __UNKNOWN__ 6 26413235 26413235 __UNKNOWN__ Intron SNP C C T rs6920986 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:26413235C>T ENST00000289361.6 + 10 1386 BTN3A1_ENST00000414912.2_Intron|BTN3A1_ENST00000476549.2_3'UTR NM_001145008.1|NM_001145009.1|NM_007048.5 NP_001138480.1|NP_001138481.1|NP_008979.3 O00481 BT3A1_HUMAN butyrophilin, subfamily 3, member A1 NA NA activated T cell proliferation (GO:0050798)|cytokine secretion (GO:0050663)|interferon-gamma secretion (GO:0072643)|T cell receptor signaling pathway (GO:0050852) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 ATACCTGGGGCTTTCTCTCCT 0.557 NA C||| 733 0.146366 0.1611 0.1801 5008 , , NA 18699 0.0308 NA 0.166 False NA ,,, NA NA NA 2504 0.2014 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U90552 CCDS4608.1, CCDS4609.1, CCDS47388.1, CCDS47389.1 6p22.1 2014-01-14 ENSG00000026950 ENSG00000026950 11119 CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Butyrophilins 1138 protein-coding gene gene with protein product 613593 NA 9149941 Standard NM_007048 NA Approved BT3.1, BTF5, CD277, BTN3.1 uc003nhv.3 O00481 OTTHUMG00000014449 ENST00000289361.6:c.1019-162C>T chr6.hg19:g.26413235C>T NA A2A278|A8K2C8|B4DIQ1|B4DRM2|E9PGB4|E9PHG8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1 hg19 CCDS4608.1 0.02 12.601942 GGGxTTT COVERED NOVEL BTN3A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040112.3 1 12.067023 KEEP 0 1 31 51 1836 CC 1 1 0 + 11 60 398 0 0 24.405486 300 60 11266 426 ENST00000289361.6 0.03537 1 BTN3A1 11119 __UNKNOWN__ __UNKNOWN__ 6 26413368 26413368 __UNKNOWN__ Intron SNP T T G rs6901245 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:26413368T>G ENST00000289361.6 + 10 1386 BTN3A1_ENST00000414912.2_Intron|BTN3A1_ENST00000476549.2_3'UTR NM_001145008.1|NM_001145009.1|NM_007048.5 NP_001138480.1|NP_001138481.1|NP_008979.3 O00481 BT3A1_HUMAN butyrophilin, subfamily 3, member A1 NA NA activated T cell proliferation (GO:0050798)|cytokine secretion (GO:0050663)|interferon-gamma secretion (GO:0072643)|T cell receptor signaling pathway (GO:0050852) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 ATGGTTGACCTCATGGACACT 0.527 NA N||| 733 0.146366 0.1611 0.1801 5008 , , NA 20756 0.0308 NA 0.166 False NA ,,, NA NA NA 2504 0.2014 NA NA NA NA 0 G ,,, 789,3617 67,655,1481 68 71 70 ,,, -4.2 0 6 dbSNP_116 70 1458,7142 125,1208,2967 no intron,utr-3,intron,utr-3 BTN3A1 NM_001145008.1,NM_001145009.1,NM_007048.5,NM_194441.2 ,,, 192,1863,4448 GG,GT,TT 16.9535,17.9074,17.2766 ,,, ,,, 26413368 2247,10759 2203 4300 6503 SO:0001627 intron_variant U90552 CCDS4608.1, CCDS4609.1, CCDS47388.1, CCDS47389.1 6p22.1 2014-01-14 ENSG00000026950 ENSG00000026950 11119 CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Butyrophilins 1138 protein-coding gene gene with protein product 613593 NA 9149941 Standard NM_007048 NA Approved BT3.1, BTF5, CD277, BTN3.1 uc003nhv.3 O00481 OTTHUMG00000014449 ENST00000289361.6:c.1019-29T>G chr6.hg19:g.26413368T>G NA A2A278|A8K2C8|B4DIQ1|B4DRM2|E9PGB4|E9PHG8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1 hg19 CCDS4608.1 0.02 4.590599 ACCxCAT COVERED NOVEL BTN3A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040112.3 2 7.487878 KEEP 0 0 0 25 761 TT 0.999931 0.999931 0 + 8 60 285 0 0 19.136107 127 60 4580 171 ENST00000289361.6 0.059259 1 BTN3A1 11119 __UNKNOWN__ __UNKNOWN__ 6 26414060 26414060 __UNKNOWN__ 3'UTR SNP G G T rs56325223 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:26414060G>T ENST00000289361.6 + 0 2050 BTN3A1_ENST00000414912.2_3'UTR NM_001145008.1|NM_001145009.1|NM_007048.5 NP_001138480.1|NP_001138481.1|NP_008979.3 O00481 BT3A1_HUMAN butyrophilin, subfamily 3, member A1 NA NA activated T cell proliferation (GO:0050798)|cytokine secretion (GO:0050663)|interferon-gamma secretion (GO:0072643)|T cell receptor signaling pathway (GO:0050852) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 CCAGCTCAGAGCTGAGGGCCT 0.493 NA G||| 484 0.0966454 0.0772 0.1412 5008 , , NA 18295 0.0288 NA 0.1153 False NA ,,, NA NA NA 2504 0.1421 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U90552 CCDS4608.1, CCDS4609.1, CCDS47388.1, CCDS47389.1 6p22.1 2014-01-14 ENSG00000026950 ENSG00000026950 11119 CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Butyrophilins 1138 protein-coding gene gene with protein product 613593 NA 9149941 Standard NM_007048 NA Approved BT3.1, BTF5, CD277, BTN3.1 uc003nhv.3 O00481 OTTHUMG00000014449 ENST00000289361.6:c.*140G>T chr6.hg19:g.26414060G>T NA A2A278|A8K2C8|B4DIQ1|B4DRM2|E9PGB4|E9PHG8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1 hg19 CCDS4608.1 0.02 12.615501 AGAxCTG COVERED NOVEL BTN3A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040112.3 3 19.56384 KEEP 0 0 0 65 2320 GG 1 1 0 + 11 60 368 0 0 21.258277 321 60 12077 460 ENST00000289361.6 0.033133 1 BTN3A1 11119 __UNKNOWN__ __UNKNOWN__ 6 26414806 26414806 __UNKNOWN__ 3'UTR SNP A A G rs4712992 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:26414806A>G ENST00000289361.6 + 0 2796 NM_001145008.1|NM_001145009.1|NM_007048.5 NP_001138480.1|NP_001138481.1|NP_008979.3 O00481 BT3A1_HUMAN butyrophilin, subfamily 3, member A1 NA NA activated T cell proliferation (GO:0050798)|cytokine secretion (GO:0050663)|interferon-gamma secretion (GO:0072643)|T cell receptor signaling pathway (GO:0050852) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 ATAAGTGATCATGCAGCCAGA 0.453 NA G||| 726 0.144968 0.1611 0.1801 5008 , , NA 18974 0.0308 NA 0.167 False NA ,,, NA NA NA 2504 0.1933 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U90552 CCDS4608.1, CCDS4609.1, CCDS47388.1, CCDS47389.1 6p22.1 2014-01-14 ENSG00000026950 ENSG00000026950 11119 CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Butyrophilins 1138 protein-coding gene gene with protein product 613593 NA 9149941 Standard NM_007048 NA Approved BT3.1, BTF5, CD277, BTN3.1 uc003nhv.3 O00481 OTTHUMG00000014449 ENST00000289361.6:c.*886A>G chr6.hg19:g.26414806A>G NA A2A278|A8K2C8|B4DIQ1|B4DRM2|E9PGB4|E9PHG8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1 hg19 CCDS4608.1 0.02 17.233214 ATCxTGC COVERED NOVEL BTN3A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040112.3 7 27.38134 KEEP 0 0 0 91 2870 AA 1 1 0 + 13 60 443 0 0 24.659779 462 60 17171 654 ENST00000289361.6 0.027368 1 BTN2A3P 54718 __UNKNOWN__ __UNKNOWN__ 6 26423154 26423154 __UNKNOWN__ RNA SNP T T C rs12198993 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:26423154T>C ENST00000466808.2 + 0 79 Q96KV6 BT2A3_HUMAN butyrophilin, subfamily 2, member A3, pseudogene NA NA integral component of membrane (GO:0016021) NA GCCCCTTTGTTGAACAGCCCA 0.517 NA T||| 729 0.145567 0.1641 0.1801 5008 , , NA 22607 0.0308 NA 0.166 False NA ,,, NA NA NA 2504 0.1933 NA NA NA NA 0 T 792,3614 67,658,1478 73 64 67 -1.4 0.3 6 dbSNP_120 67 1448,7152 125,1198,2977 no intergenic 192,1856,4455 CC,CT,TT 16.8372,17.9755,17.2228 26423154 2240,10766 2203 4300 6503 AL021917 6p22.1 2014-01-14 2011-09-06 2011-09-06 ENSG00000124549 ENSG00000124549 54718 Butyrophilins 13229 pseudogene pseudogene 613592 butyrophilin, subfamily 2, member A3 BTN2A3 NA Standard NR_027795 NR_027795 NA Approved BTN2.3 uc011dkl.1 Q96KV6 OTTHUMG00000014453 ENST00000466808.2: chr6.hg19:g.26423154T>C NA A6NEF4 hg19 0.02 30.442585 TGTxGAA COVERED NOVEL BTN2A3P-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000040118.4 4 52.3557 KEEP 0 0 0 174 5385 TT 1 1 0 + 22 60 792 0 0 47.078082 695 60 25351 1144 ENST00000466808.2 0.030683 1 BTN2A3P 54718 __UNKNOWN__ __UNKNOWN__ 6 26423317 26423317 __UNKNOWN__ RNA SNP G G A rs7745238 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:26423317G>A ENST00000466808.2 + 0 236 Q96KV6 BT2A3_HUMAN butyrophilin, subfamily 2, member A3, pseudogene NA NA integral component of membrane (GO:0016021) NA GTGTATAAGGGTGGAAGAGAG 0.532 NA G||| 729 0.145567 0.1641 0.1801 5008 , , NA 20255 0.0308 NA 0.166 False NA ,,, NA NA NA 2504 0.1933 NA NA NA NA 0 G 792,3614 67,658,1478 189 155 167 -0.3 0 6 dbSNP_116 167 1448,7152 125,1198,2977 no intergenic 192,1856,4455 AA,AG,GG 16.8372,17.9755,17.2228 26423317 2240,10766 2203 4300 6503 AL021917 6p22.1 2014-01-14 2011-09-06 2011-09-06 ENSG00000124549 ENSG00000124549 54718 Butyrophilins 13229 pseudogene pseudogene 613592 butyrophilin, subfamily 2, member A3 BTN2A3 NA Standard NR_027795 NR_027795 NA Approved BTN2.3 uc011dkl.1 Q96KV6 OTTHUMG00000014453 ENST00000466808.2: chr6.hg19:g.26423317G>A NA A6NEF4 hg19 0.02 18.825679 AGGxTGG COVERED NOVEL BTN2A3P-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000040118.4 4 16.853183 KEEP 0 0 0 56 1907 GG 1 1 0 + 19 60 670 1 0 41.444217 456 60 16624 560 ENST00000466808.2 0.04 1 BTN2A3P 54718 __UNKNOWN__ __UNKNOWN__ 6 26428842 26428842 __UNKNOWN__ RNA SNP A A G rs1741740 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:26428842A>G ENST00000466808.2 + 0 1304 Q96KV6 BT2A3_HUMAN butyrophilin, subfamily 2, member A3, pseudogene NA NA integral component of membrane (GO:0016021) NA TTCTTCTGTTAAAGACATGAT 0.403 NA G||| 4170 0.832668 0.9788 0.7608 5008 , , NA 23186 0.75 NA 0.8221 False NA ,,, NA NA NA 2504 0.7822 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AL021917 6p22.1 2014-01-14 2011-09-06 2011-09-06 ENSG00000124549 ENSG00000124549 54718 Butyrophilins 13229 pseudogene pseudogene 613592 butyrophilin, subfamily 2, member A3 BTN2A3 NA Standard NR_027795 NR_027795 NA Approved BTN2.3 uc011dkl.1 Q96KV6 OTTHUMG00000014453 ENST00000466808.2: chr6.hg19:g.26428842A>G NA A6NEF4 hg19 0.02 9.370863 GTTxAAG COVERED NOVEL BTN2A3P-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000040118.4 1 11.368897 KEEP 0 1 35 50 1578 AA 1 1 0 + 9 60 344 0 0 22.701889 194 60 6859 305 ENST00000466808.2 0.044335 1 BTN2A3P 54718 __UNKNOWN__ __UNKNOWN__ 6 26431340 26431340 __UNKNOWN__ RNA SNP A A G rs45499696 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:26431340A>G ENST00000466808.2 + 0 1447 Q96KV6 BT2A3_HUMAN butyrophilin, subfamily 2, member A3, pseudogene NA NA integral component of membrane (GO:0016021) NA CCAGGTGGGCATCTTCCTGGA 0.507 NA G||| 725 0.144768 0.1611 0.1801 5008 , , NA 19408 0.0308 NA 0.166 False NA ,,, NA NA NA 2504 0.1933 NA NA NA NA 0 G 788,3618 751.8+/-412.2 67,654,1482 91 89 90 -5.2 0 6 dbSNP_127 90 1448,7152 750.7+/-407.4 125,1198,2977 no intergenic 192,1852,4459 GG,GA,AA 16.8372,17.8847,17.1921 26431340 2236,10770 2203 4300 6503 AL021917 6p22.1 2014-01-14 2011-09-06 2011-09-06 ENSG00000124549 ENSG00000124549 54718 Butyrophilins 13229 pseudogene pseudogene 613592 butyrophilin, subfamily 2, member A3 BTN2A3 NA Standard NR_027795 NR_027795 NA Approved BTN2.3 uc011dkl.1 Q96KV6 OTTHUMG00000014453 ENST00000466808.2: chr6.hg19:g.26431340A>G NA A6NEF4 hg19 0.02 12.561297 GGCxTCT COVERED NOVEL BTN2A3P-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000040118.4 2 19.856011 KEEP 0 0 0 66 2019 AA 1 1 0 + 12 60 412 0 0 24.611423 315 60 11398 458 ENST00000466808.2 0.036697 1 BTN3A3 10384 __UNKNOWN__ __UNKNOWN__ 6 26443853 26443853 __UNKNOWN__ Intron SNP C C A rs17611438 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:26443853C>A ENST00000361232.3 + 3 222 BTN3A3_ENST00000339789.4_Intron|BTN3A3_ENST00000244519.2_Silent_p.S17S NM_197974.2 NP_932078.2 O00478 BT3A3_HUMAN butyrophilin, subfamily 3, member A3 NA NA T cell mediated immunity (GO:0002456) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886) cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 TTCATGTCTCCCTCTTCTTGG 0.438 NA C||| 725 0.144768 0.1634 0.1772 5008 , , NA 17327 0.0308 NA 0.165 False NA ,,, NA NA NA 2504 0.1933 NA NA NA NA 0 C ,, 788,3618 318.8+/-295.8 65,658,1480 295 238 257 ,51, 0.1 0 6 dbSNP_129 257 1450,7150 279.1+/-293.8 125,1200,2975 no intron,coding-synonymous,intron BTN3A3 NM_001242803.1,NM_006994.4,NM_197974.2 ,, 190,1858,4455 AA,AC,CC 16.8605,17.8847,17.2074 ,, ,17/585, 26443853 2238,10768 2203 4300 6503 SO:0001627 intron_variant U90548 CCDS4611.1, CCDS4612.1, CCDS4612.2 6p22.1 2014-01-14 ENSG00000111801 ENSG00000111801 10384 Immunoglobulin superfamily / V-set domain containing, Butyrophilins 1140 protein-coding gene gene with protein product 613595 NA 10354554, 9149941 Standard NM_006994 NM_006994 NA Approved BTF3, BTN3.3 uc003nhz.3 O00478 OTTHUMG00000014451 ENST00000361232.3:c.-60-16C>A chr6.hg19:g.26443853C>A NA B4DWI7|E9PCP5 hg19 CCDS4612.2 0.02 30.413532 CTCxCTC COVERED NOVEL BTN3A3-002 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000354136.1 3 43.943265 KEEP 9 0 0 146 5172 CC 1 1 0 + 22 49 775 0 0 44.921216 731 50 26531 1155 ENST00000361232.3 0.029216 1 BTN3A3 10384 __UNKNOWN__ __UNKNOWN__ 6 26446209 26446209 __UNKNOWN__ Silent SNP C C T rs3846848 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:26446209C>T ENST00000361232.3 + 5 867 c.585C>T c.(583-585)atC>atT p.I195I BTN3A3_ENST00000339789.4_Silent_p.I195I|BTN3A3_ENST00000244519.2_Silent_p.I237I NM_197974.2 NP_932078.2 O00478 BT3A3_HUMAN butyrophilin, subfamily 3, member A3 237 Ig-like V-type 2. NA T cell mediated immunity (GO:0002456) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886) cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 GCATATCCATCGCAGGTCAGT 0.542 NA C||| 725 0.144768 0.1634 0.1772 5008 , , NA 21137 0.0308 NA 0.165 False NA ,,, NA NA NA 2504 0.1933 NA NA NA NA 0 C ,, 787,3619 318.2+/-295.5 65,657,1481 118 111 113 ,711,585 -6.2 0 6 dbSNP_108 113 1450,7150 279.0+/-293.7 125,1200,2975 no intron,coding-synonymous,coding-synonymous BTN3A3 NM_001242803.1,NM_006994.4,NM_197974.2 ,, 190,1857,4456 TT,TC,CC 16.8605,17.862,17.1998 ,, ,237/585,195/536 26446209 2237,10769 2203 4300 6503 SO:0001819 synonymous_variant U90548 CCDS4611.1, CCDS4612.1, CCDS4612.2 6p22.1 2014-01-14 ENSG00000111801 ENSG00000111801 10384 Immunoglobulin superfamily / V-set domain containing, Butyrophilins 1140 protein-coding gene gene with protein product 613595 NA 10354554, 9149941 Standard NM_006994 NM_006994 NA Approved BTF3, BTN3.3 uc003nhz.3 O00478 OTTHUMG00000014451 ENST00000361232.3:c.585C>T chr6.hg19:g.26446209C>T NA B4DWI7|E9PCP5 hg19 CCDS4612.2 0.02 15.400437 CATxGCA COVERED NOVEL BTN3A3-002 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000354136.1 1 19.797546 KEEP 0 2 60 87 2953 CC 1 1 0 + 10 60 378 0 0 22.523456 368 60 13113 594 ENST00000361232.3 0.026455 1 BTN3A3 10384 __UNKNOWN__ __UNKNOWN__ 6 26451553 26451553 __UNKNOWN__ Intron SNP A A G rs2237236 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:26451553A>G ENST00000361232.3 + 10 1153 BTN3A3_ENST00000339789.4_Intron|BTN3A3_ENST00000244519.2_Intron NM_197974.2 NP_932078.2 O00478 BT3A3_HUMAN butyrophilin, subfamily 3, member A3 NA NA T cell mediated immunity (GO:0002456) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886) cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 TTTAGTTCATAAGCGGTCGAG 0.408 NA G||| 2527 0.504593 0.8442 0.4164 5008 , , NA 20709 0.2946 NA 0.4493 False NA ,,, NA NA NA 2504 0.3814 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U90548 CCDS4611.1, CCDS4612.1, CCDS4612.2 6p22.1 2014-01-14 ENSG00000111801 ENSG00000111801 10384 Immunoglobulin superfamily / V-set domain containing, Butyrophilins 1140 protein-coding gene gene with protein product 613595 NA 10354554, 9149941 Standard NM_006994 NM_006994 NA Approved BTF3, BTN3.3 uc003nhz.3 O00478 OTTHUMG00000014451 ENST00000361232.3:c.872-350A>G chr6.hg19:g.26451553A>G NA B4DWI7|E9PCP5 hg19 CCDS4612.2 0.02 17.155331 CATxAGC COVERED NOVEL BTN3A3-002 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000354136.1 0 16.247827 KEEP 0 0 0 54 1667 AA 1 1 0 + 14 60 550 0 0 35.42577 380 60 13755 563 ENST00000361232.3 0.035533 1 BTN1A1 696 __UNKNOWN__ __UNKNOWN__ 6 26501768 26501768 __UNKNOWN__ Intron SNP C C T rs2295593 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:26501768C>T ENST00000244513.6 + 2 145 NM_001732.2 NP_001723.2 Q13410 BT1A1_HUMAN butyrophilin, subfamily 1, member A1 NA NA extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887) receptor activity (GO:0004872) endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1) 26 CGGTGTCTGTCCGTAGTTCCC 0.597 NA C||| 732 0.146166 0.2163 0.0605 5008 , , NA 15232 0.122 NA 0.1223 False NA ,,, NA NA NA 2504 0.1616 NA NA NA NA 0 C 823,3561 74,675,1443 21 21 21 3 0 6 dbSNP_100 21 948,7620 61,826,3397 no intron BTN1A1 NM_001732.2 135,1501,4840 TT,TC,CC 11.0644,18.7728,13.6736 26501768 1771,11181 2192 4284 6476 SO:0001627 intron_variant U39576 CCDS4614.1 6p22.1 2014-01-14 ENSG00000124557 ENSG00000124557 696 Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Butyrophilins 1135 protein-coding gene gene with protein product 601610 BTN NA 8114113, 9382921 Standard NM_001732 NM_001732 NA Approved BT, BTN1 uc003nif.4 Q13410 OTTHUMG00000016358 ENST00000244513.6:c.80-50C>T chr6.hg19:g.26501768C>T NA Q4VAN3|Q4VAN4|Q9H458 hg19 CCDS4614.1 0.02 1.71309 TGTxCGT COVERED NOVEL BTN1A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000043776.1 2 2.541357 KEEP 0 1 27 18 598 CC 0.99986 0.998727 0 + 4 60 141 0 0 9.205781 72 60 2600 100 ENST00000244513.6 0.052632 0.998867 ZNF322 79692 __UNKNOWN__ __UNKNOWN__ 6 26636734 26636734 __UNKNOWN__ 3'UTR SNP T T G rs187661116 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:26636734T>G ENST00000415922.2 - 0 2693 ZNF322_ENST00000471278.1_3'UTR|RP11-457M11.2_ENST00000456172.1_RNA NM_024639.4 NP_078915.2 Q6U7Q0 ZN322_HUMAN zinc finger protein 322 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) NA ACCATATGAGTCAACTAACTA 0.383 NA T||| 40 0.00798722 0.0076 0.0014 5008 , , NA 16983 0.004 NA 0.001 False NA ,,, NA NA NA 2504 0.0245 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY376736 CCDS4617.1 6p22.1 2013-01-08 2011-07-29 2011-07-29 ENSG00000181315 ENSG00000181315 79692 Zinc fingers, C2H2-type 23640 protein-coding gene gene with protein product 610847 zinc finger protein 489, HLA complex group 12, zinc finger protein 322A ZNF489, ZNF388, HCG12, ZNF322A NA 15555580 Standard NM_024639 NM_024639 NA Approved bA457M11.3, bA457M11.2 uc021yny.1 Q6U7Q0 OTTHUMG00000014460 ENST00000415922.2:c.*839A>C chr6.hg19:g.26636734T>G NA A8K1X3|Q0VDH6|Q6B0G2|Q86W72|Q9H5I9 hg19 CCDS4617.1 0.02 31.248565 GAGxCAA COVERED NOVEL ZNF322-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040126.2 4 26.476369 KEEP 91 0 0 88 2797 TT 1 1 0 - 20 60 728 0 0 41.816331 775 60 27595 1129 ENST00000415922.2 0.025157 1 ZNF322 79692 __UNKNOWN__ __UNKNOWN__ 6 26638417 26638417 __UNKNOWN__ Missense_Mutation SNP G G A rs111265204 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:26638417G>A ENST00000415922.2 - 4 1010 c.365C>T c.(364-366)gCa>gTa p.A122V ZNF322_ENST00000471278.1_Missense_Mutation_p.A122V NM_024639.4 NP_078915.2 Q6U7Q0 ZN322_HUMAN zinc finger protein 322 122 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) NA TTTTTTACCTGCATGTGTTCT 0.418 NA G||| 215 0.0429313 0.1112 0.0187 5008 , , NA 19866 0.0089 NA 0.0179 False NA ,,, NA NA NA 2504 0.0286 NA NA NA NA 0 G VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA 491,3911 227.8+/-242.9 27,437,1737 111 114 113 365,365,365,365 5.2 1 6 dbSNP_134 113 117,8477 60.6+/-122.4 2,113,4182 no missense,missense,missense,missense ZNF322 NM_001242797.1,NM_001242798.1,NM_001242799.1,NM_024639.4 64,64,64,64 29,550,5919 AA,AG,GG 1.3614,11.154,4.6784 probably-damaging,probably-damaging,probably-damaging,probably-damaging 122/403,122/403,122/403,122/403 26638417 608,12388 2201 4297 6498 SO:0001583 missense AY376736 CCDS4617.1 6p22.1 2013-01-08 2011-07-29 2011-07-29 ENSG00000181315 ENSG00000181315 79692 Zinc fingers, C2H2-type 23640 protein-coding gene gene with protein product 610847 zinc finger protein 489, HLA complex group 12, zinc finger protein 322A ZNF489, ZNF388, HCG12, ZNF322A NA 15555580 Standard NM_024639 NM_024639 NA Approved bA457M11.3, bA457M11.2 uc021yny.1 Q6U7Q0 OTTHUMG00000014460 ENST00000415922.2:c.365C>T chr6.hg19:g.26638417G>A ENSP00000418897:p.Ala122Val NA A8K1X3|Q0VDH6|Q6B0G2|Q86W72|Q9H5I9 hg19 CCDS4617.1 0.02 19.204085 CCTxCAT COVERED 75 0.034340659340659344 53 0.10772357723577236 6 0.016574585635359115 4 0.006993006993006993 12 0.0158311345646438 g 20.6 4.017653 0.75161 0.11154 0.013614 ENSG00000181315 ENST00000415922;ENST00000471278 T;T 0.17691 2.26;2.26 5.15 5.15 0.70609 . 0.000000 0.41396 D 0.000899 T 0.07728 0.0194 N 0.20881 0.62 0.38510 D 0.948445 B 0.25563 0.129 B 0.26517 0.07 T 0.08310 -1.0728 10 0.87932 D 0 -12.6654 16.4904 0.84199 0.0:0.0:1.0:0.0 . 122 Q6U7Q0 ZN322_HUMAN V 122 ENSP00000418897:A122V;ENSP00000419728:A122V ENSP00000418897:A122V A - 2 0 ZNF322 26746396 1.000000 0.71417 1.000000 0.80357 0.989000 0.77384 3.420000 0.52735 2.835000 0.97688 0.655000 0.94253 GCA NOVEL ZNF322-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040126.2 3 23.109092 KEEP 84 1 23 85 3026 GG 1 1 0 - 15 49 556 0 0 33.977603 451 50 17298 720 ENST00000415922.2 0.032189 1 PRSS16 10279 __UNKNOWN__ __UNKNOWN__ 6 27215486 27215486 __UNKNOWN__ 5'UTR SNP C C A rs41269253 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:27215486C>A ENST00000421826.2 + 0 7 Q9NQE7 TSSP_HUMAN protease, serine, 16 (thymus) NA NA protein catabolic process (GO:0030163) cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|lysosome (GO:0005764) serine-type peptidase activity (GO:0008236) central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 26 AGATAAAGGTCCTCCTGGGGG 0.572 NA C||| 330 0.0658946 0.1271 0.0504 5008 , , NA 17928 0.0129 NA 0.0308 False NA ,,, NA NA NA 2504 0.0849 NA NA NA NSCLC(178;1118 2105 17078 23587 44429) NA 0 C 425,3869 16,393,1738 26 28 27 -3.8 0 6 dbSNP_127 27 393,7983 7,379,3802 no near-gene-5 23,772,5540 AA,AC,CC 4.692,9.8975,6.4562 27215486 818,11852 2147 4188 6335 SO:0001623 5_prime_UTR_variant AF052514 CCDS4623.1 6p21 2010-05-07 ENSG00000112812 ENSG00000112812 10279 Serine peptidases / Serine peptidases 9480 protein-coding gene gene with protein product 607169 NA 10527559 Standard NM_005865 NA Approved TSSP uc003nja.3 Q9NQE7 OTTHUMG00000016167 ENST00000421826.2:c.-31C>A chr6.hg19:g.27215486C>A NA O75416 hg19 0.02 3.736659 GGTxCTC COVERED NOVEL PRSS16-002 NOVEL basic protein_coding NA protein_coding OTTHUMT00000354236.1 1 3.912525 KEEP 0 0 0 13 443 CC 0.994391 0.99439 0 + 8 60 257 0 0 16.513377 122 60 4377 167 ENST00000421826.2 0.061538 1 PRSS16 10279 __UNKNOWN__ __UNKNOWN__ 6 27215625 27215625 __UNKNOWN__ Intron SNP G G A rs5030963 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:27215625G>A ENST00000230582.3 + 2 85 PRSS16_ENST00000421826.2_Intron NM_005865.3 NP_005856.1 Q9NQE7 TSSP_HUMAN protease, serine, 16 (thymus) NA NA protein catabolic process (GO:0030163) cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|lysosome (GO:0005764) serine-type peptidase activity (GO:0008236) central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 26 CATCCTAAGGGGGCCAGCCTG 0.622 NA G||| 328 0.0654952 0.1241 0.0519 5008 , , NA 17182 0.0129 NA 0.0318 False NA ,,, NA NA NA 2504 0.0849 NA NA NA NSCLC(178;1118 2105 17078 23587 44429) NA 0 G 471,3935 221.7+/-238.7 20,431,1752 50 51 50 1.7 0 6 dbSNP_113 50 451,8149 135.4+/-192.6 9,433,3858 no intron PRSS16 NM_005865.3 29,864,5610 AA,AG,GG 5.2442,10.69,7.089 27215625 922,12084 2203 4300 6503 SO:0001627 intron_variant AF052514 CCDS4623.1 6p21 2010-05-07 ENSG00000112812 ENSG00000112812 10279 Serine peptidases / Serine peptidases 9480 protein-coding gene gene with protein product 607169 NA 10527559 Standard NM_005865 NA Approved TSSP uc003nja.3 Q9NQE7 OTTHUMG00000016167 ENST00000230582.3:c.71-36G>A chr6.hg19:g.27215625G>A NA O75416 hg19 CCDS4623.1 0.02 8.780044 AGGxGGC COVERED NOVEL PRSS16-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000043418.2 0 8.126036 KEEP 0 0 0 27 938 GG 0.999988 0.999988 0 + 8 60 295 0 0 18.324776 217 60 7809 311 ENST00000230582.3 0.035556 1 PRSS16 10279 __UNKNOWN__ __UNKNOWN__ 6 27223242 27223242 __UNKNOWN__ 3'UTR SNP C C T rs3734577 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:27223242C>T ENST00000230582.3 + 0 1708 PRSS16_ENST00000421826.2_3'UTR|PRSS16_ENST00000377456.2_3'UTR NM_005865.3 NP_005856.1 Q9NQE7 TSSP_HUMAN protease, serine, 16 (thymus) NA NA protein catabolic process (GO:0030163) cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|lysosome (GO:0005764) serine-type peptidase activity (GO:0008236) central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 26 CATGTGTCTGCAAACATCCTT 0.353 NA C||| 508 0.101438 0.2216 0.0663 5008 , , NA 21570 0.0278 NA 0.0447 False NA ,,, NA NA NA 2504 0.0982 NA NA NA NSCLC(178;1118 2105 17078 23587 44429) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF052514 CCDS4623.1 6p21 2010-05-07 ENSG00000112812 ENSG00000112812 10279 Serine peptidases / Serine peptidases 9480 protein-coding gene gene with protein product 607169 NA 10527559 Standard NM_005865 NA Approved TSSP uc003nja.3 Q9NQE7 OTTHUMG00000016167 ENST00000230582.3:c.*148C>T chr6.hg19:g.27223242C>T NA O75416 hg19 CCDS4623.1 0.02 1.846289 CTGxAAA COVERED NOVEL PRSS16-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000043418.2 3 5.718495 KEEP 0 0 0 19 678 CC 0.99986 0.999799 0 + 4 60 144 0 0 9.092021 92 60 3453 138 ENST00000230582.3 0.041667 0.99994 OR2B6 26212 __UNKNOWN__ __UNKNOWN__ 6 27925076 27925076 __UNKNOWN__ Missense_Mutation SNP C C G rs150850606 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:27925076C>G ENST00000244623.1 + 1 58 c.58C>G c.(58-60)Cga>Gga p.R20G NM_012367.1 NP_036499.1 P58173 OR2B6_HUMAN olfactory receptor, family 2, subfamily B, member 6 20 NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 TTTCTCAGATCGACCTTGGCT 0.413 NA C||| 50 0.00998403 0.0008 0.0 5008 , , NA 16729 0.0079 NA 0.0 False NA ,,, NA NA NA 2504 0.0419 NA NA NA NA 0 C GLY/ARG 5,4401 9.9+/-24.2 0,5,2198 173 168 170 58 3 0.8 6 dbSNP_134 170 3,8597 3.0+/-9.4 0,3,4297 yes missense OR2B6 NM_012367.1 125 0,8,6495 GG,GC,CC 0.0349,0.1135,0.0615 benign 20/314 27925076 8,12998 2203 4300 6503 SO:0001583 missense U86275 CCDS4642.1 6p22.1 2012-08-09 ENSG00000124657 ENSG00000124657 26212 GPCR / Class A : Olfactory receptors 8241 protein-coding gene gene with protein product OR2B6P, OR2B1, OR2B1P, OR2B5 NA 9500546 Standard NM_012367 NA Approved OR6-31, dJ408B20.2, OR5-40, OR5-41 uc011dkx.2 P58173 OTTHUMG00000014497 ENST00000244623.1:c.58C>G chr6.hg19:g.27925076C>G ENSP00000244623:p.Arg20Gly NA O43883|Q6IF89|Q9H5B0 hg19 CCDS4642.1 0.02 16.855698 GATxGAC COVERED 1 4.578754578754579E-4 0 0.0 0 0.0 1 0.0017482517482517483 0 0.0 c 8.058 0.767558 0.15983 0.001135 3.49E-4 ENSG00000124657 ENST00000244623 T 0.01068 5.38 3.93 3.05 0.35203 . 0.689868 0.11009 U 0.609690 T 0.00496 0.0016 L 0.39633 1.23 0.19775 N 0.999958 B 0.32040 0.353 B 0.33042 0.157 T 0.49072 -0.8977 10 0.62326 D 0.03 . 5.4787 0.16710 0.2007:0.6919:0.0:0.1074 . 20 P58173 OR2B6_HUMAN G 20 ENSP00000244623:R20G ENSP00000244623:R20G R + 1 2 OR2B6 28033055 0.000000 0.05858 0.821000 0.32701 0.391000 0.30476 0.219000 0.17641 0.907000 0.36646 0.563000 0.77884 CGA NOVEL OR2B6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040165.1 1 12.338089 KEEP 0 0 0 41 1353 CC 1 1 0 + 13 60 493 0 0 31.23965 346 60 12554 462 ENST00000244623.1 0.036212 1 OR2B6 26212 __UNKNOWN__ __UNKNOWN__ 6 27925367 27925367 __UNKNOWN__ Missense_Mutation SNP G G A rs7767176 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:27925367G>A ENST00000244623.1 + 1 349 c.349G>A c.(349-351)Gtc>Atc p.V117I NM_012367.1 NP_036499.1 P58173 OR2B6_HUMAN olfactory receptor, family 2, subfamily B, member 6 117 NA V -> I (in dbSNP:rs7767176). integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 TCTCCTGGCCGTCATGTCCTT 0.473 NA G||| 541 0.108027 0.1914 0.098 5008 , , NA 19411 0.0288 NA 0.0755 False NA ,,, NA NA NA 2504 0.1176 NA NA NA NA 0 G ILE/VAL 700,3706 288.1+/-279.7 47,606,1550 74 73 73 349 2.8 0.4 6 dbSNP_116 73 686,7912 169.7+/-221.0 27,632,3640 yes missense OR2B6 NM_012367.1 29 74,1238,5190 AA,AG,GG 7.9786,15.8874,10.6583 benign 117/314 27925367 1386,11618 2203 4299 6502 SO:0001583 missense U86275 CCDS4642.1 6p22.1 2012-08-09 ENSG00000124657 ENSG00000124657 26212 GPCR / Class A : Olfactory receptors 8241 protein-coding gene gene with protein product OR2B6P, OR2B1, OR2B1P, OR2B5 NA 9500546 Standard NM_012367 NA Approved OR6-31, dJ408B20.2, OR5-40, OR5-41 uc011dkx.2 P58173 OTTHUMG00000014497 ENST00000244623.1:c.349G>A chr6.hg19:g.27925367G>A ENSP00000244623:p.Val117Ile NA O43883|Q6IF89|Q9H5B0 hg19 CCDS4642.1 0.02 8.179465 GCCxTCA COVERED 191 0.08745421245421245 98 0.1991869918699187 35 0.09668508287292818 8 0.013986013986013986 50 0.06596306068601583 g 5.091 0.202345 0.09652 0.158874 0.079786 ENSG00000124657 ENST00000244623 T 0.04862 3.54 3.68 2.8 0.32819 GPCR, rhodopsin-like superfamily (1); 0.346611 0.16009 U 0.233899 T 0.02807 0.0084 L 0.54965 1.715 0.42602 P 0.006712000000000051 B 0.10296 0.003 B 0.12837 0.008 T 0.20538 -1.0272 9 0.52906 T 0.07 . 9.1882 0.37182 0.1146:0.0:0.8854:0.0 rs7767176;rs52838310;rs58027283;rs7767176 117 P58173 OR2B6_HUMAN I 117 ENSP00000244623:V117I ENSP00000244623:V117I V + 1 0 OR2B6 28033346 0.017000 0.18338 0.394000 0.26270 0.022000 0.10575 0.977000 0.29475 0.814000 0.34374 0.563000 0.77884 GTC NOVEL OR2B6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040165.1 3 6.620479 KEEP 0 0 0 22 728 GG 0.999879 0.999879 0 + 8 60 296 0 0 18.420122 217 60 7560 277 ENST00000244623.1 0.035556 1 ZSCAN12 9753 __UNKNOWN__ __UNKNOWN__ 6 28366262 28366262 __UNKNOWN__ Intron SNP G G A rs2232422 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:28366262G>A ENST00000361028.1 - 2 78 ZSCAN12_ENST00000396827.3_Intron O43309 ZSC12_HUMAN zinc finger and SCAN domain containing 12 NA NA transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(2)|endometrium(3)|urinary_tract(1) 6 TGAAGAATAAGCCATCATTAT 0.383 NA G||| 519 0.103634 0.1528 0.0922 5008 , , NA 16984 0.0278 NA 0.0905 False NA ,,, NA NA NA 2504 0.137 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB007886 6p21 2013-01-08 2007-02-20 2007-02-20 ENSG00000158691 ENSG00000158691 9753 -, Zinc fingers, C2H2-type 13172 protein-coding gene gene with protein product 603978 zinc finger protein 305, zinc finger protein 96 ZNF305, ZNF96 NA 9244436 Standard NM_014724 NM_001163391 NA Approved KIAA0426, ZNF29K1, ZFP96, dJ29K1.2 uc011dlh.2 O43309 OTTHUMG00000014522 ENST00000361028.1:c.68-12C>T chr6.hg19:g.28366262G>A NA O43724 hg19 0.02 15.40198 TAAxCCA COVERED NOVEL ZSCAN12-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000040190.1 2 24.681506 KEEP 0 0 0 82 3016 GG 1 1 0 - 16 60 573 0 0 36.624709 339 60 12617 517 ENST00000361028.1 0.04507 1 ZSCAN23 222696 __UNKNOWN__ __UNKNOWN__ 6 28400538 28400538 __UNKNOWN__ 3'UTR SNP T T C rs7766356 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:28400538T>C ENST00000289788.4 - 0 3019 NM_001012455.1 NP_001012458.1 Q3MJ62 ZSC23_HUMAN zinc finger and SCAN domain containing 23 NA NA transcription, DNA-templated (GO:0006351) extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(1)|prostate(1)|stomach(2) 4 gaagttctgttatgatgtgga 0.269 NA T||| 612 0.122204 0.1596 0.1124 5008 , , NA 15384 0.0288 NA 0.159 False NA ,,, NA NA NA 2504 0.137 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK092117 CCDS47393.1 6p21.33 2013-01-08 2007-02-20 2007-02-20 ENSG00000187987 ENSG00000187987 222696 -, Zinc fingers, C2H2-type 21193 protein-coding gene gene with protein product zinc finger protein 453, zinc finger protein 390 ZNF453, ZNF390 NA Standard XM_167147 NM_001012455 NA Approved dJ29K1.3.1 uc003nli.4 Q3MJ62 OTTHUMG00000016346 ENST00000289788.4:c.*1704A>G chr6.hg19:g.28400538T>C NA Q96KV9 hg19 CCDS47393.1 0.02 9.189098 TGTxATG COVERED NOVEL ZSCAN23-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000043751.2 1 14.141954 KEEP 0 0 0 47 1477 TT 1 1 0 - 9 60 347 0 0 22.415536 226 60 8092 337 ENST00000289788.4 0.038298 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 28414967 28414967 __UNKNOWN__ IGR SNP G G T rs16894116 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:28414967G>T NA NA ZSCAN23 (3688 upstream) : GPX6 (56105 downstream) NA NA NA CCGCCGCGGCGGTCTAAGAGC 0.652 NA G||| 917 0.183107 0.3215 0.17 5008 , , NA 15421 0.0337 NA 0.1948 False NA ,,, NA NA NA 2504 0.1472 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.28414967G>T NA hg19 0.02 8.536457 GGCxGTC COVERED NOVEL 0 0 16.249891 KEEP 0 0 0 54 1827 GG 1 1 0 7 60 250 0 0 15.065745 200 60 6933 332 0.033816 1 TRIM27 5987 __UNKNOWN__ __UNKNOWN__ 6 28891458 28891458 __UNKNOWN__ 5'UTR SNP T T C rs1061625 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:28891458T>C ENST00000377199.3 - 0 308 TRIM27_ENST00000377194.3_5'UTR NM_006510.4 NP_006501.1 P14373 TRI27_HUMAN tripartite motif containing 27 NA NA Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell proliferation (GO:0008283)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|negative regulation of adaptive immune response (GO:0002820)|negative regulation of calcium ion import (GO:0090281)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) endometrium(1)|large_intestine(2)|lung(6)|ovary(1) 10 CGCCGAGCTCTGCACTGAGCC 0.756 NA T RET papillary thyroid T||| 2467 0.492612 0.6672 0.415 5008 , , NA 12688 0.5407 NA 0.3221 False NA ,,, NA NA NA 2504 0.4376 NA NA NA Dom yes 6 6p22 5987 tripartite motif-containing 27 E 0 T 1787,1891 533,721,585 3 4 3 -0.6 0.1 6 dbSNP_86 3 1819,5293 314,1191,2051 no utr-5 TRIM27 NM_006510.4 847,1912,2636 CC,CT,TT 25.5765,48.5862,33.4198 28891458 3606,7184 1839 3556 5395 SO:0001623 5_prime_UTR_variant Z58939 CCDS4654.1 6p22 2013-01-09 2011-01-25 2006-09-26 ENSG00000204713 ENSG00000204713 5987 Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers 9975 protein-coding gene gene with protein product 602165 ret finger protein, tripartite motif-containing 27 RFP NA 8114113 Standard NM_030950 NM_006510 NA Approved RNF76 uc003nlr.3 P14373 OTTHUMG00000031215 ENST00000377199.3:c.-49A>G chr6.hg19:g.28891458T>C NA A2BE15|Q5RJA8|Q5ST26|Q6LA73|Q6NXR9|Q9BZY6|Q9UJL3 hg19 CCDS4654.1 0.02 4.962465 CTCxGCA COVERED NOVEL TRIM27-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076442.2 0 11.567095 KEEP 0 1 36 51 1532 TT 1 0.999981 0 - 5 60 180 0 0 11.706404 98 60 3564 191 ENST00000377199.3 0.048544 0.999981 ZNF311 282890 __UNKNOWN__ __UNKNOWN__ 6 28963248 28963248 __UNKNOWN__ Missense_Mutation SNP T T G rs6456880 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:28963248T>G ENST00000377179.3 - 7 2043 c.1531A>C c.(1531-1533)Aag>Cag p.K511Q ZNF311_ENST00000483450.1_5'UTR NM_001010877.2 NP_001010877.2 Q5JNZ3 ZN311_HUMAN zinc finger protein 311 511 NA K -> Q (in dbSNP:rs6456880). {ECO:0000269|PubMed:14574404}. regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2) 28 AGGCAGTGCTTATCTTGGAAG 0.463 NA G||| 3341 0.667133 0.9539 0.5692 5008 , , NA 23712 0.6508 NA 0.4354 False NA ,,, NA NA NA 2504 0.6043 NA NA NA NA 0 G GLN/LYS 2586,436 1113,360,38 87 83 84 1531 1.8 0 6 dbSNP_116 84 2247,3171 468,1311,930 yes missense ZNF311 NM_001010877.2 53 1581,1671,968 GG,GT,TT 41.4729,14.4275,42.737 benign 511/667 28963248 4833,3607 1511 2709 4220 SO:0001583 missense AL833166 CCDS34357.1 6p21.33 2013-01-08 ENSG00000197935 ENSG00000197935 282890 Zinc fingers, C2H2-type, - 13847 protein-coding gene gene with protein product NA Standard XM_212581 XM_006715067 NA Approved uc003nlu.2 Q5JNZ3 OTTHUMG00000031292 ENST00000377179.3:c.1531A>C chr6.hg19:g.28963248T>G ENSP00000366384:p.Lys511Gln NA A2BFK5|B0S7Y4|Q92971 hg19 CCDS34357.1 0.02 4.72556 GCTxATC COVERED 1350 0.6181318681318682 467 0.9491869918699187 203 0.5607734806629834 375 0.6555944055944056 305 0.4023746701846966 G 0.364 -0.938000 0.02340 0.855725 0.414729 ENSG00000197935 ENST00000377179;ENST00000535083 T 0.13538 2.58 3.69 1.82 0.25136 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1); . . . . T 0.03053 0.0090 L 0.38692 1.165 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.41875 -0.9484 8 0.30854 T 0.27 -0.5211 5.6026 0.17361 0.0993:0.0:0.4055:0.4951 rs6456880;rs17340289;rs59778525;rs6456880 511 Q5JNZ3 ZN311_HUMAN Q 511;419 ENSP00000366384:K511Q ENSP00000366384:K511Q K - 1 0 ZNF311 29071227 0.021000 0.18746 0.000000 0.03702 0.035000 0.12851 0.492000 0.22435 0.009000 0.14813 -0.195000 0.12781 AAG NOVEL ZNF311-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076631.3 2 2.639948 KEEP 0 1 32 20 583 TT 0.999869 0.999869 0 - 6 60 232 0 0 15.485504 125 60 4451 176 ENST00000377179.3 0.045802 1 OR2W1 26692 __UNKNOWN__ __UNKNOWN__ 6 29012067 29012067 __UNKNOWN__ Missense_Mutation SNP C C T rs35771565 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:29012067C>T ENST00000377175.1 - 1 950 c.886G>A c.(886-888)Gac>Aac p.D296N NM_030903.3 NP_112165.1 Q9Y3N9 OR2W1_HUMAN olfactory receptor, family 2, subfamily W, member 1 296 NA D -> N (in allele 6M1-15*02; dbSNP:rs35771565). {ECO:0000269|Ref.1}. integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1) 23 TCCTTCATGTCCTTATTTCTT 0.418 NA C||| 1249 0.249401 0.236 0.2522 5008 , , NA 18451 0.3929 NA 0.172 False NA ,,, NA NA NA 2504 0.1973 NA NA NA NA 0 C ,ASN/ASP 656,2366 58,540,913 57 50 53 ,886 3.9 1 6 dbSNP_126 53 813,4605 69,675,1965 yes utr-5,missense OR2W1,LOC100129636 NM_001195202.1,NM_030903.3 ,23 127,1215,2878 TT,TC,CC 15.0055,21.7075,17.4052 ,benign ,296/321 29012067 1469,6971 1511 2709 4220 SO:0001583 missense AL035402 CCDS4656.1 6p22.1 2012-08-09 ENSG00000204704 ENSG00000204704 26692 GPCR / Class A : Olfactory receptors 8281 protein-coding gene gene with protein product NA Standard NM_030903 NA Approved hs6M1-15 uc003nlw.2 Q9Y3N9 OTTHUMG00000031048 ENST00000377175.1:c.886G>A chr6.hg19:g.29012067C>T ENSP00000366380:p.Asp296Asn NA B0S7Y5|Q5JNZ1|Q6IEU0|Q96R17|Q9GZL0|Q9GZL1 hg19 CCDS4656.1 0.02 18.61741 TGTxCTT COVERED 545 0.24954212454212454 102 0.2073170731707317 94 0.2596685082872928 237 0.4143356643356643 112 0.14775725593667546 C 21.8 4.195218 0.78902 0.217075 0.150055 ENSG00000204704 ENST00000377175 T 0.38077 1.16 4.79 3.92 0.45320 . 0.117279 0.38381 N 0.001706 T 0.17534 0.0421 N 0.25144 0.715 0.23845 P 0.99668764 P 0.45348 0.856 P 0.46275 0.51 T 0.04708 -1.0932 9 0.72032 D 0.01 . 11.7323 0.51744 0.0:0.9122:0.0:0.0878 rs35771565;rs62407609 296 Q9Y3N9 OR2W1_HUMAN N 296 ENSP00000366380:D296N ENSP00000366380:D296N D - 1 0 OR2W1 29120046 0.949000 0.32298 1.000000 0.80357 0.991000 0.79684 2.309000 0.43699 0.982000 0.38575 0.591000 0.81541 GAC NOVEL OR2W1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076053.2 2 15.951228 KEEP 0 0 0 53 1839 CC 1 1 0 - 18 60 650 0 0 39.967157 481 60 17802 664 ENST00000377175.1 0.036072 1 OR2W1 26692 __UNKNOWN__ __UNKNOWN__ 6 29012116 29012116 __UNKNOWN__ Silent SNP G G A rs7341218 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:29012116G>A ENST00000377175.1 - 1 901 c.837C>T c.(835-837)acC>acT p.T279T NM_030903.3 NP_112165.1 Q9Y3N9 OR2W1_HUMAN olfactory receptor, family 2, subfamily W, member 1 279 NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1) 23 GAGTGATGACGGTGTAAAAGA 0.433 NA G||| 1444 0.288339 0.354 0.2839 5008 , , NA 18806 0.3929 NA 0.1889 False NA ,,, NA NA NA 2504 0.1973 NA NA NA NA 0 G , 961,2061 143,675,693 108 84 93 ,837 -1.5 1 6 dbSNP_116 93 907,4511 78,751,1880 no utr-5,coding-synonymous OR2W1,LOC100129636 NM_001195202.1,NM_030903.3 , 221,1426,2573 AA,AG,GG 16.7405,31.8001,22.1327 , ,279/321 29012116 1868,6572 1511 2709 4220 SO:0001819 synonymous_variant AL035402 CCDS4656.1 6p22.1 2012-08-09 ENSG00000204704 ENSG00000204704 26692 GPCR / Class A : Olfactory receptors 8281 protein-coding gene gene with protein product NA Standard NM_030903 NA Approved hs6M1-15 uc003nlw.2 Q9Y3N9 OTTHUMG00000031048 ENST00000377175.1:c.837C>T chr6.hg19:g.29012116G>A NA B0S7Y5|Q5JNZ1|Q6IEU0|Q96R17|Q9GZL0|Q9GZL1 hg19 CCDS4656.1 0.02 20.500406 GACxGTG COVERED NOVEL OR2W1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076053.2 1 14.747416 KEEP 0 0 0 49 1681 GG 1 1 0 - 13 60 463 0 0 27.071546 442 60 15405 618 ENST00000377175.1 0.028571 1 OR10C1 442194 __UNKNOWN__ __UNKNOWN__ 6 29408528 29408528 __UNKNOWN__ Missense_Mutation SNP A A G rs2074464 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:29408528A>G ENST00000444197.2 + 1 1446 c.736A>G c.(736-738)Atg>Gtg p.M246V OR11A1_ENST00000377149.1_Intron NM_013941.3 NP_039229.3 Q96KK4 O10C1_HUMAN olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene) 246 NA M -> V (in dbSNP:rs2074464). {ECO:0000269|PubMed:12213199, ECO:0000269|PubMed:14574404}. integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 CCACCTGATCATGGTCTCCCT 0.582 NA G||| 2963 0.591653 0.6346 0.5303 5008 , , NA 18506 0.5774 NA 0.5338 False NA ,,, NA NA NA 2504 0.6513 NA NA NA NA 0 G VAL/MET 2071,951 730,611,170 272 306 294 736 3.5 0.2 6 dbSNP_96 294 2978,2438 841,1296,571 yes missense OR10C1 NM_013941.3 21 1571,1907,741 GG,GA,AA 45.0148,31.4692,40.1635 benign 246/313 29408528 5049,3389 1511 2708 4219 SO:0001583 missense CCDS34364.1 6p22.2-p21.31 2013-10-10 2013-10-10 ENSG00000206474 ENSG00000206474 442194 GPCR / Class A : Olfactory receptors 8165 protein-coding gene gene with protein product olfactory receptor, family 10, subfamily C, member 2, olfactory receptor, family 10, subfamily C, member 1 OR10C2 NA Standard NM_013941 NA Approved hs6M1-17, OR10C1P uc011dlp.2 Q96KK4 OTTHUMG00000031207 ENST00000444197.2:c.736A>G chr6.hg19:g.29408528A>G ENSP00000419119:p.Met246Val NA Q5SUN7|Q96R18 hg19 CCDS34364.1 0.02 27.738609 ATCxTGG COVERED 1300 0.5952380952380952 381 0.774390243902439 201 0.5552486187845304 302 0.527972027972028 416 0.5488126649076517 G 0.172 -1.070339 0.01918 0.685308 0.549852 ENSG00000206474 ENST00000444197 T 0.00015 9.15 3.49 3.49 0.39957 GPCR, rhodopsin-like superfamily (1); 0.000000 0.35407 N 0.003229 T 0.00012 0.0000 N 0.00003 -3.48 0.50467 P 1.2999999999996348E-4 B 0.02656 0.0 B 0.01281 0.0 T 0.16247 -1.0409 9 0.02654 T 1 . 10.6625 0.45710 0.0971:0.0:0.9029:0.0 rs2074464;rs17177660;rs52805749;rs58298350;rs2074464 246 Q96KK4 O10C1_HUMAN V 246 ENSP00000419119:M246V ENSP00000419119:M246V M + 1 0 OR10C1 29516507 0.001000 0.12720 0.170000 0.22879 0.665000 0.39181 0.331000 0.19733 0.695000 0.31675 -0.172000 0.13284 ATG NOVEL OR10C1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076415.2 3 10.232835 KEEP 0 3 97 68 2106 AA 1 1 0 + 27 60 952 0 0 58.525805 669 60 24750 963 ENST00000444197.2 0.038793 1 OR2H1 26716 __UNKNOWN__ __UNKNOWN__ 6 29431698 29431698 __UNKNOWN__ 3'UTR SNP A A G rs3128854 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:29431698A>G ENST00000377136.1 + 0 2617 OR2H1_ENST00000377133.1_3'UTR|OR2H1_ENST00000442615.1_3'UTR|OR2H1_ENST00000377132.1_3'UTR Q9GZK4 OR2H1_HUMAN olfactory receptor, family 2, subfamily H, member 1 NA NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) large_intestine(5)|lung(12) 17 ctcttccctcatgacctaatc 0.448 NA A||| 3312 0.661342 0.8041 0.5965 5008 , , NA 20406 0.623 NA 0.5527 False NA ,,, NA NA NA 2504 0.6656 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF044491 CCDS4660.1 6p22.1 2014-02-19 2002-02-28 ENSG00000204688 ENSG00000204688 26716 GPCR / Class A : Olfactory receptors 8252 protein-coding gene gene with protein product olfactory receptor, family 2, subfamily H, member 8 OR2H6, OR2H8 NA Standard NM_030883 NA Approved OR6-2 uc003nmi.3 Q9GZK4 OTTHUMG00000031050 ENST00000377136.1:c.*1201A>G chr6.hg19:g.29431698A>G NA B0S7T4|O43629|O43661|O43662|Q5SUN6|Q9GZK9 hg19 CCDS4660.1 0.02 4.783534 CTCxTGA COVERED NOVEL OR2H1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000194014.3 0 3.31025 KEEP 0 0 0 11 352 AA 0.993072 0.993068 0 + 12 60 421 0 0 31.218185 101 60 3762 152 ENST00000377136.1 0.106195 0.999995 UBD 10537 __UNKNOWN__ __UNKNOWN__ 6 29523859 29523859 __UNKNOWN__ Missense_Mutation SNP G G C rs2076487 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:29523859G>C ENST00000377050.4 - 2 519 c.296C>G c.(295-297)gCa>gGa p.A99G GABBR1_ENST00000355973.3_3'UTR NM_006398.3 NP_006389.2 O15205 UBD_HUMAN ubiquitin D 99 Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}. NA A -> G (in dbSNP:rs2076487). aggresome assembly (GO:0070842)|myeloid dendritic cell differentiation (GO:0043011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein modification by small protein conjugation (GO:0032446)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to organonitrogen compound (GO:0010243)|response to tumor necrosis factor (GO:0034612)|ubiquitin-dependent protein catabolic process (GO:0006511) aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleus (GO:0005634) proteasome binding (GO:0070628) kidney(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 6 GTGCCTCTTTGCCTCATCACC 0.512 NA C||| 1000 0.199681 0.4758 0.1052 5008 , , NA 21235 0.1488 NA 0.0268 False NA ,,, NA NA NA 2504 0.1237 NA NA NA NA 0 C GLY/ALA 1326,1696 277,772,462 92 91 91 296 5.2 0.1 6 dbSNP_96 91 153,5265 2,149,2558 yes missense UBD NM_006398.3 60 279,921,3020 CC,CG,GG 2.8239,43.8782,17.5237 benign 99/166 29523859 1479,6961 1511 2709 4220 SO:0001583 missense Y12653 CCDS4662.1 6p21.3 2008-04-11 ENSG00000213886 ENSG00000213886 10537 18795 protein-coding gene gene with protein product 606050 NA 9368598, 8662070 Standard NM_006398 NA Approved FAT10 uc003nmo.3 O15205 OTTHUMG00000031289 ENST00000377050.4:c.296C>G chr6.hg19:g.29523859G>C ENSP00000366249:p.Ala99Gly NA B0UZT6|Q5STL2|Q5SUK2|Q96EC7 hg19 CCDS4662.1 0.02 8.129265 TTTxCCT COVERED 393 0.17994505494505494 252 0.5121951219512195 41 0.1132596685082873 84 0.14685314685314685 16 0.021108179419525065 C 0.020 -1.438561 0.01098 0.438782 0.028239 ENSG00000213886 ENST00000377050 T 0.05580 3.42 5.17 5.17 0.71159 Ubiquitin supergroup (1);Ubiquitin (1); 0.000000 0.36303 N 0.002671 T 0.00328 0.0010 N 0.00018 -2.805 0.44234 P 0.002923000000000009 B 0.02656 0.0 B 0.01281 0.0 T 0.42378 -0.9455 9 0.02654 T 1 -15.9604 11.9195 0.52783 0.0:0.8243:0.1757:0.0 rs2076487;rs7762224;rs17184297;rs52809164;rs2076487 99 O15205 UBD_HUMAN G 99 ENSP00000366249:A99G ENSP00000366249:A99G A - 2 0 UBD 29631838 0.440000 0.25618 0.094000 0.20943 0.101000 0.19017 1.885000 0.39678 1.176000 0.42840 -0.167000 0.13348 GCA NOVEL UBD-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076628.3 4 14.144758 KEEP 0 0 0 47 1662 GG 1 1 0 - 7 60 254 0 0 14.981539 235 60 8949 357 ENST00000377050.4 0.028926 1 OR2H2 7932 __UNKNOWN__ __UNKNOWN__ 6 29555809 29555809 __UNKNOWN__ Missense_Mutation SNP C C T rs3129034 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:29555809C>T ENST00000383640.2 + 1 127 c.88C>T c.(88-90)Ctc>Ttc p.L30F GABBR1_ENST00000355973.3_Intron NM_007160.3 NP_009091.3 O95918 OR2H2_HUMAN olfactory receptor, family 2, subfamily H, member 2 30 NA L -> F (in dbSNP:rs3129034). {ECO:0000269|PubMed:10880742, ECO:0000269|PubMed:14574404, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.3}.|L -> I (in dbSNP:rs3129034). {ECO:0000269|PubMed:7665158}.|L -> S. {ECO:0000269|PubMed:10880742}. defense response (GO:0006952)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|mating (GO:0007618) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1) 14 CGTGGTTGTCCTCACTTCCTA 0.537 NA T||| 4021 0.802915 0.9077 0.745 5008 , , NA 20819 0.8899 NA 0.6203 False NA ,,, NA NA NA 2504 0.8006 NA NA NA NA 0 T PHE/LEU 2637,385 1150,337,24 216 202 207 88 0.7 0.1 6 dbSNP_103 207 3331,2087 1037,1257,415 no missense OR2H2 NM_007160.3 22 2187,1594,439 TT,TC,CC 38.5197,12.7399,29.2891 benign 30/313 29555809 5968,2472 1511 2709 4220 SO:0001583 missense CCDS34365.1 6p22.2-p21.31 2012-08-09 ENSG00000204657 7932 GPCR / Class A : Olfactory receptors 8253 protein-coding gene gene with protein product 600578 NA Standard XM_005249407 NA Approved hs6M1-12 uc003nmr.1 O95918 ENST00000383640.2:c.88C>T chr6.hg19:g.29555809C>T ENSP00000373136:p.Leu30Phe NA Q15062|Q2M1Y3|Q5STL8|Q5SUK1|Q6IFN7|Q6NTB7|Q96R14 hg19 CCDS34365.1 0.02 27.4529 GTCxTCA COVERED 1700 0.7783882783882784 458 0.9308943089430894 271 0.7486187845303868 508 0.8881118881118881 463 0.6108179419525066 T 3.716 -0.058501 0.07317 0.872601 0.614803 ENSG00000204657 ENST00000383640 T 0.01804 4.63 4.44 0.682 0.17992 . 1.070770 0.07440 N 0.897093 T 0.01029 0.0034 M 0.65975 2.015 0.80722 P 0.0 B 0.10296 0.003 B 0.15052 0.012 T 0.36311 -0.9753 9 0.42905 T 0.14 . 9.0297 0.36252 0.0:0.4683:0.0:0.5317 rs3129034;rs56998746 30 O95918 OR2H2_HUMAN F 30 ENSP00000373136:L30F ENSP00000373136:L30F L + 1 0 OR2H2 29663788 0.000000 0.05858 0.102000 0.21198 0.075000 0.17131 -0.148000 0.10219 -0.025000 0.13918 -0.352000 0.07741 CTC NOVEL OR2H2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076057.2 3 11.880155 KEEP 0 4 118 81 2961 CC 1 1 0 + 18 60 685 0 0 41.645507 609 60 22993 885 ENST00000383640.2 0.028708 1 OR2H2 7932 __UNKNOWN__ __UNKNOWN__ 6 29555864 29555864 __UNKNOWN__ Missense_Mutation SNP C C T rs1233387 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:29555864C>T ENST00000383640.2 + 1 182 c.143C>T c.(142-144)gCg>gTg p.A48V GABBR1_ENST00000355973.3_Intron NM_007160.3 NP_009091.3 O95918 OR2H2_HUMAN olfactory receptor, family 2, subfamily H, member 2 48 NA A -> V (in dbSNP:rs1233387). {ECO:0000269|PubMed:10880742, ECO:0000269|PubMed:14574404, ECO:0000269|PubMed:14983052}. defense response (GO:0006952)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|mating (GO:0007618) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1) 14 CTGCTGTCTGCGCTGGACCCC 0.527 NA T||| 1718 0.343051 0.2685 0.3559 5008 , , NA 21347 0.4831 NA 0.2555 False NA ,,, NA NA NA 2504 0.3804 NA NA NA NA 0 T VAL/ALA 786,2236 100,586,825 231 198 210 143 2 0 6 dbSNP_87 210 1371,4047 178,1015,1516 yes missense OR2H2 NM_007160.3 64 278,1601,2341 TT,TC,CC 25.3045,26.0093,25.5569 benign 48/313 29555864 2157,6283 1511 2709 4220 SO:0001583 missense CCDS34365.1 6p22.2-p21.31 2012-08-09 ENSG00000204657 7932 GPCR / Class A : Olfactory receptors 8253 protein-coding gene gene with protein product 600578 NA Standard XM_005249407 NA Approved hs6M1-12 uc003nmr.1 O95918 ENST00000383640.2:c.143C>T chr6.hg19:g.29555864C>T ENSP00000373136:p.Ala48Val NA Q15062|Q2M1Y3|Q5STL8|Q5SUK1|Q6IFN7|Q6NTB7|Q96R14 hg19 CCDS34365.1 0.02 16.471861 CTGxGCT COVERED 688 0.315018315018315 125 0.2540650406504065 109 0.3011049723756906 272 0.4755244755244755 182 0.24010554089709762 T 5.424 0.263305 0.10294 0.260093 0.253045 ENSG00000204657 ENST00000383640 T 0.01076 5.37 4.44 1.96 0.26148 GPCR, rhodopsin-like superfamily (1); 0.908400 0.09070 N 0.853071 T 0.00210 0.0006 N 0.04787 -0.16 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.35895 -0.9770 9 0.17832 T 0.49 . 0.8099 0.01091 0.1659:0.293:0.1712:0.3699 rs1233387;rs1233387 48 O95918 OR2H2_HUMAN V 48 ENSP00000373136:A48V ENSP00000373136:A48V A + 2 0 OR2H2 29663843 0.000000 0.05858 0.001000 0.08648 0.987000 0.75469 -1.347000 0.02632 -0.043000 0.13513 -0.352000 0.07741 GCG NOVEL OR2H2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076057.2 2 13.14158 KEEP 0 1 32 55 1823 CC 1 1 0 + 12 60 439 0 0 25.905553 414 60 13848 527 ENST00000383640.2 0.028169 1 GABBR1 2550 __UNKNOWN__ __UNKNOWN__ 6 29570841 29570841 __UNKNOWN__ 3'UTR SNP A A G rs2267633 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:29570841A>G ENST00000377034.4 - 0 3700 GABBR1_ENST00000355973.3_Intron|GABBR1_ENST00000377016.4_3'UTR|GABBR1_ENST00000376977.3_3'UTR|GABBR1_ENST00000377012.4_3'UTR NM_001470.2 NP_001461.1 Q9UBS5 GABR1_HUMAN gamma-aminobutyric acid (GABA) B receptor, 1 NA NA adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268) cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734) G-protein coupled GABA receptor activity (GO:0004965) endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080) GAGAAAGTATAGAAGGGCAAG 0.507 NA G||| 921 0.183906 0.1051 0.1628 5008 , , NA 22286 0.249 NA 0.1064 False NA ,,, NA NA NA 2504 0.318 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Y11044 CCDS4663.1, CCDS4664.1, CCDS4665.1 6p21.3 2012-08-29 ENSG00000204681 ENSG00000204681 2550 GABA receptors, GPCR / Class C : GABA(B) receptors 4070 protein-coding gene gene with protein product GABA-B receptor 603540 NA 9753614, 9798068 Standard NM_001470 NA Approved hGB1a, GPRC3A uc003nmt.4 Q9UBS5 OTTHUMG00000031095 ENST00000377034.4:c.*479T>C chr6.hg19:g.29570841A>G NA B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0 hg19 CCDS4663.1 0.02 23.436718 TATxGAA COVERED 312 0.14285714285714285 54 0.10975609756097561 41 0.1132596685082873 134 0.23426573426573427 83 0.10949868073878628 G 5.864 0.343530 0.11069 . . ENSG00000204681 ENST00000485026 . . . 4.25 -1.45 0.08828 . . . . . T 0.23846 0.0577 . . . 0.58432 P 1.0000000000287557E-6 . . . . . . T 0.16897 -1.0387 3 . . . . 9.6808 0.40070 0.6482:0.0:0.3518:0.0 rs2267633;rs58416353;rs2267633 . . . P 323 . . L - 2 0 GABBR1 29678820 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -0.534000 0.06150 -0.625000 0.05604 -1.050000 0.02344 CTA NOVEL GABBR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076141.3 1 18.656074 KEEP 0 0 0 62 1933 AA 1 1 0 - 17 60 592 0 0 34.565195 533 60 19442 729 ENST00000377034.4 0.030909 1 GABBR1 2550 __UNKNOWN__ __UNKNOWN__ 6 29581011 29581011 __UNKNOWN__ Intron SNP T T G rs29226 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:29581011T>G ENST00000377034.4 - 12 1902 GABBR1_ENST00000355973.3_Intron|GABBR1_ENST00000377016.4_Intron|GABBR1_ENST00000376977.3_Intron|GABBR1_ENST00000377012.4_Intron NM_001470.2 NP_001461.1 Q9UBS5 GABR1_HUMAN gamma-aminobutyric acid (GABA) B receptor, 1 NA NA adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268) cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734) G-protein coupled GABA receptor activity (GO:0004965) endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080) GAAGGAAGTTTTAACTCACAG 0.463 NA G||| 545 0.108826 0.0946 0.0807 5008 , , NA 18485 0.122 NA 0.0974 False NA ,,, NA NA NA 2504 0.1462 NA NA NA NA 0 G ,, 273,2749 10,253,1248 106 121 115 ,, -1.5 0 6 dbSNP_76 115 560,4856 35,490,2183 no intron,intron,intron GABBR1 NM_001470.2,NM_021903.2,NM_021904.2 ,, 45,743,3431 GG,GT,TT 10.3397,9.0338,9.872 ,, ,, 29581011 833,7605 1511 2708 4219 SO:0001627 intron_variant Y11044 CCDS4663.1, CCDS4664.1, CCDS4665.1 6p21.3 2012-08-29 ENSG00000204681 ENSG00000204681 2550 GABA receptors, GPCR / Class C : GABA(B) receptors 4070 protein-coding gene gene with protein product GABA-B receptor 603540 NA 9753614, 9798068 Standard NM_001470 NA Approved hGB1a, GPRC3A uc003nmt.4 Q9UBS5 OTTHUMG00000031095 ENST00000377034.4:c.1566+8A>C chr6.hg19:g.29581011T>G NA B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0 hg19 CCDS4663.1 0.02 12.738548 GTTxTAA COVERED NOVEL GABBR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076141.3 1 16.846749 KEEP 0 0 0 56 1710 TT 1 1 0 - 8 60 319 0 0 20.196576 253 60 9184 389 ENST00000377034.4 0.030651 1 ZFP57 346171 __UNKNOWN__ __UNKNOWN__ 6 29641397 29641397 __UNKNOWN__ Missense_Mutation SNP C C T rs200541066 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:29641397C>T ENST00000488757.1 - 4 641 c.491G>A c.(490-492)cGg>cAg p.R164Q ZFP57_ENST00000376883.1_Missense_Mutation_p.R144Q|ZFP57_ENST00000376881.3_Missense_Mutation_p.R144Q NM_001109809.2 NP_001103279.2 Q9NU63 ZFP57_HUMAN ZFP57 zinc finger protein 80 NA DNA methylation involved in embryo development (GO:0043045)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peripheral nervous system development (GO:0007422)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription, DNA-templated (GO:0006351) nuclear heterochromatin (GO:0005720) DNA binding (GO:0003677)|metal ion binding (GO:0046872) NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5) 44 TTGAAGCACCCGGGTCCTGTC 0.572 NA c||| 70 0.0139776 0.0061 0.0043 5008 , , NA 16863 0.0079 NA 0.001 False NA ,,, NA NA NA 2504 0.0511 NA NA NA NA 0 T GLN/ARG 5,2329 0,5,1162 78 87 84 491 -3.7 0 6 84 3,5017 0,3,2507 yes missense ZFP57 NM_001109809.2 43 0,8,3669 TT,TC,CC 0.0598,0.2142,0.1088 benign 164/537 29641397 8,7346 1167 2510 3677 SO:0001583 missense AL050328 CCDS43436.1, CCDS43436.2 6p22.1 2013-01-08 2012-11-27 2005-07-20 ENSG00000204644 ENSG00000204644 346171 Zinc fingers, C2H2-type, - 18791 protein-coding gene gene with protein product 612192 chromosome 6 open reading frame 40, zinc finger protein 57 homolog (mouse) C6orf40 NA Standard XM_294093 NM_001109809 NA Approved ZNF698, bA145L22, bA145L22.2 uc011dlw.2 Q9NU63 OTTHUMG00000031158 ENST00000488757.1:c.491G>A chr6.hg19:g.29641397C>T ENSP00000418259:p.Arg164Gln NA B0S894|B0V254|B2RXJ7|Q5SSB1 hg19 CCDS43436.2 0.02 9.077454 ACCxGGG COVERED . . . . . . . . . . c 1.037 -0.679986 0.03353 0.002142 5.98E-4 ENSG00000204644 ENST00000488757;ENST00000376881;ENST00000376883 T;T;T 0.05081 3.5;3.71;3.71 3.36 -3.73 0.04398 . 0.753424 0.10910 N 0.620697 T 0.00695 0.0023 N 0.14661 0.345 0.09310 N 1 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.47100 -0.9143 10 0.11485 T 0.65 0.2209 3.2844 0.06926 0.0874:0.3646:0.1792:0.3687 . 164;144 Q9NU63-3;Q9NU63-2 .;. Q 164;144;144 ENSP00000418259:R164Q;ENSP00000366078:R144Q;ENSP00000366080:R144Q ENSP00000366078:R144Q R - 2 0 ZFP57 29749376 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 0.162000 0.16501 -1.298000 0.02348 -4.481000 0.00005 CGG NOVEL ZFP57-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000355773.1 0 6.919498 KEEP 0 0 0 23 781 CC 0.999892 0.999892 0 - 13 60 488 0 0 33.459777 211 60 7455 282 ENST00000488757.1 0.058036 1 ZFP57 346171 __UNKNOWN__ __UNKNOWN__ 6 29644970 29644970 __UNKNOWN__ 5'UTR SNP T T C rs55693745 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:29644970T>C ENST00000376883.1 - 0 222 Q9NU63 ZFP57_HUMAN ZFP57 zinc finger protein NA NA DNA methylation involved in embryo development (GO:0043045)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peripheral nervous system development (GO:0007422)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription, DNA-templated (GO:0006351) nuclear heterochromatin (GO:0005720) DNA binding (GO:0003677)|metal ion binding (GO:0046872) NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5) 44 CTTCCTTTTTTGTTCTGCTGT 0.527 NA T||| 376 0.0750799 0.0008 0.0375 5008 , , NA 19999 0.1567 NA 0.0577 False NA ,,, NA NA NA 2504 0.136 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AL050328 CCDS43436.1, CCDS43436.2 6p22.1 2013-01-08 2012-11-27 2005-07-20 ENSG00000204644 ENSG00000204644 346171 Zinc fingers, C2H2-type, - 18791 protein-coding gene gene with protein product 612192 chromosome 6 open reading frame 40, zinc finger protein 57 homolog (mouse) C6orf40 NA Standard XM_294093 NM_001109809 NA Approved ZNF698, bA145L22, bA145L22.2 uc011dlw.2 Q9NU63 OTTHUMG00000031158 ENST00000376883.1:c.-190A>G chr6.hg19:g.29644970T>C NA B0S894|B0V254|B2RXJ7|Q5SSB1 hg19 0.02 35.562072 TTTxGTT COVERED NOVEL ZFP57-001 KNOWN basic protein_coding NA protein_coding OTTHUMT00000132460.2 1 20.45967 KEEP 0 0 0 68 2119 TT 1 1 0 - 30 60 1079 0 0 66.639585 773 60 28158 1015 ENST00000376883.1 0.03736 1 HLA-F 3134 __UNKNOWN__ __UNKNOWN__ 6 29691097 29691097 __UNKNOWN__ 5'UTR SNP A A T rs2075682 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:29691097A>T ENST00000376861.1 + 0 241 P30511 HLAF_HUMAN major histocompatibility complex, class I, F NA NA antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337) early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886) peptide antigen binding (GO:0042605)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979) cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 8 TTCTTCCTGGATACTCATAAC 0.557 NA .||| 1157 0.23103 0.2632 0.1628 5008 , , NA 15166 0.2917 NA 0.1193 False NA ,,, NA NA NA 2504 0.2883 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AY253269 CCDS43437.1, CCDS43438.1, CCDS43439.1 6p21.3 2013-01-11 ENSG00000204642 ENSG00000204642 3134 Histocompatibility complex, Immunoglobulin superfamily / C1-set domain containing 4963 protein-coding gene gene with protein product 143110 NA 1688605 Standard NM_018950 NM_018950 NA Approved uc003nno.4 P30511 OTTHUMG00000031156 ENST00000376861.1:c.-144A>T chr6.hg19:g.29691097A>T NA Q5JQI8|Q5JQJ1|Q5SPT5|Q860R0|Q8MGQ1|Q8WLP5|Q95HC0|Q9TP68 hg19 CCDS43438.1 0.02 5.750877 TGGxTAC COVERED NOVEL HLA-F-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000195083.1 1 24.675171 KEEP 0 0 0 82 2624 AA 1 1 0 + 8 60 277 0 0 17.621376 157 60 5657 330 ENST00000376861.1 0.048485 1 HLA-F 3134 __UNKNOWN__ __UNKNOWN__ 6 29691140 29691140 __UNKNOWN__ 5'UTR SNP C C G rs2072896 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:29691140C>G ENST00000376861.1 + 0 284 HLA-F_ENST00000334668.4_5'UTR P30511 HLAF_HUMAN major histocompatibility complex, class I, F NA NA antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337) early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886) peptide antigen binding (GO:0042605)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979) cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 8 TTGGGCGTCGCGTTTCTAGAG 0.567 NA .||| 1157 0.23103 0.2632 0.1628 5008 , , NA 15224 0.2917 NA 0.1193 False NA ,,, NA NA NA 2504 0.2883 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AY253269 CCDS43437.1, CCDS43438.1, CCDS43439.1 6p21.3 2013-01-11 ENSG00000204642 ENSG00000204642 3134 Histocompatibility complex, Immunoglobulin superfamily / C1-set domain containing 4963 protein-coding gene gene with protein product 143110 NA 1688605 Standard NM_018950 NM_018950 NA Approved uc003nno.4 P30511 OTTHUMG00000031156 ENST00000376861.1:c.-101C>G chr6.hg19:g.29691140C>G NA Q5JQI8|Q5JQJ1|Q5SPT5|Q860R0|Q8MGQ1|Q8WLP5|Q95HC0|Q9TP68 hg19 CCDS43438.1 0.02 5.848509 TCGxGTT COVERED NOVEL HLA-F-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000195083.1 1 25.882865 KEEP 0 0 0 86 3008 CC 1 1 0 + 9 60 309 0 0 19.847453 164 60 5835 349 ENST00000376861.1 0.052023 1 HLA-F 3134 __UNKNOWN__ __UNKNOWN__ 6 29691713 29691713 __UNKNOWN__ Intron SNP A A C rs2076182 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:29691713A>C ENST00000376861.1 + 3 718 HLA-F_ENST00000440587.2_Intron|HLA-F_ENST00000334668.4_Intron|HLA-F_ENST00000259951.7_Intron|HLA-F_ENST00000434407.2_Intron P30511 HLAF_HUMAN major histocompatibility complex, class I, F NA NA antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337) early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886) peptide antigen binding (GO:0042605)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979) cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 8 TGGTGAGTGAACCCGGCCGGG 0.687 NA .||| 1158 0.23123 0.264 0.1643 5008 , , NA 9944 0.2917 NA 0.1183 False NA ,,, NA NA NA 2504 0.2883 NA NA NA NA 0 C ,, 637,2339 66,505,917 9 10 10 ,, 1.5 0 6 dbSNP_96 10 616,4762 50,516,2123 no intron,intron,intron HLA-F NM_001098478.1,NM_001098479.1,NM_018950.2 ,, 116,1021,3040 CC,CA,AA 11.4541,21.4046,14.9988 ,, ,, 29691713 1253,7101 1488 2689 4177 SO:0001627 intron_variant AY253269 CCDS43437.1, CCDS43438.1, CCDS43439.1 6p21.3 2013-01-11 ENSG00000204642 ENSG00000204642 3134 Histocompatibility complex, Immunoglobulin superfamily / C1-set domain containing 4963 protein-coding gene gene with protein product 143110 NA 1688605 Standard NM_018950 NM_018950 NA Approved uc003nno.4 P30511 OTTHUMG00000031156 ENST00000376861.1:c.334+9A>C chr6.hg19:g.29691713A>C NA Q5JQI8|Q5JQJ1|Q5SPT5|Q860R0|Q8MGQ1|Q8WLP5|Q95HC0|Q9TP68 hg19 CCDS43438.1 0.02 8.167009 TGAxCCC COVERED NOVEL HLA-F-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000195083.1 0 45.396069 KEEP 0 1 5 153 4624 AA 1 1 0 + 9 60 270 0 0 15.595197 194 60 6413 476 ENST00000376861.1 0.044335 1 HLA-F-AS1 285830 __UNKNOWN__ __UNKNOWN__ 6 29712907 29712907 __UNKNOWN__ RNA SNP T T C rs148043172 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:29712907T>C ENST00000458236.1 - 0 349 HLA-F antisense RNA 1 NA NA NA AGTCTCCAGGTTGGGAGAGAG 0.507 NA T||| 111 0.0221645 0.0371 0.0043 5008 , , NA 18868 0.0079 NA 0.002 False NA ,,, NA NA NA 2504 0.0501 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AK092748 6p22.1 2013-06-03 2012-08-15 ENSG00000214922 ENSG00000214922 285830 Long non-coding RNAs 26645 non-coding RNA RNA, long non-coding HLA-F antisense RNA 1 (non-protein coding) NA Standard NR_026972 NR_026972 NA Approved uc003nnp.2 OTTHUMG00000185970 ENST00000458236.1: chr6.hg19:g.29712907T>C NA hg19 0.02 1.921366 AGGxTGG COVERED NOVEL HLA-F-AS1-002 KNOWN basic processed_transcript NA processed_transcript OTTHUMT00000471862.1 0 4.512668 KEEP 0 0 0 15 455 TT 0.99649 0.99519 0 - 4 60 147 0 0 9.805369 72 60 2487 104 ENST00000458236.1 0.052632 0.998696 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 29855901 29855901 __UNKNOWN__ IGR SNP A A G rs1059453 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:29855901A>G NA NA HLA-G (56999 upstream) : HLA-A (53135 downstream) NA NA NA GGGAGGGGCCAGAGTATTGGG 0.652 NA N||| 3528 0.704473 0.733 0.7738 5008 , , NA 10741 0.6062 NA 0.7366 False NA ,,, NA NA NA 2504 0.6851 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.29855901A>G NA hg19 0.02 6.59587 GCCxGAG COVERED NOVEL 0 4 7.726019 KEEP 0 6 210 99 3024 AA 1 1 0 7 60 237 0 0 14.690663 147 60 5269 338 0.045455 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 29855978 29855978 __UNKNOWN__ IGR SNP G G T rs7768484 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:29855978G>T NA NA HLA-G (57076 upstream) : HLA-A (53058 downstream) NA NA NA ATCGCGCTCCGCTACTACAAC 0.677 NA g||| 308 0.0615016 0.059 0.0317 5008 , , NA 10950 0.0516 NA 0.0497 False NA ,,, NA NA NA 2504 0.1084 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.29855978G>T NA hg19 0.02 4.036849 TCCxCTA COVERED NOVEL 0 3 26.182912 KEEP 0 0 0 87 3019 GG 1 1 0 7 60 188 0 0 10.690705 120 60 4290 277 0.055118 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 29858660 29858660 __UNKNOWN__ IGR SNP A A C rs3129005 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:29858660A>C NA NA HLA-G (59758 upstream) : HLA-A (50376 downstream) NA NA NA TCCAGAGAGGAGGGGCTGAGA 0.468 NA N||| 3474 0.69369 0.7254 0.7651 5008 , , NA 15426 0.5833 NA 0.7336 False NA ,,, NA NA NA 2504 0.6728 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.29858660A>C NA hg19 0.02 5.449258 AGGxGGG COVERED NOVEL 0 2 4.041476 KEEP 0 1 30 24 736 AA 0.999931 0.999931 0 9 60 283 0 0 17.254596 164 60 6076 232 0.052023 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 29864754 29864754 __UNKNOWN__ IGR SNP T T C rs9259451 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:29864754T>C NA NA HLA-G (65852 upstream) : HLA-A (44282 downstream) NA NA NA AGCAGGAGCCTTTCTGGAGGC 0.602 NA N||| 3479 0.694688 0.7292 0.7723 5008 , , NA 17523 0.5903 NA 0.7316 False NA ,,, NA NA NA 2504 0.6626 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.29864754T>C NA hg19 0.02 4.226848 GCCxTTC COVERED NOVEL 0 0 2.276698 KEEP 0 2 73 33 1028 TT 0.999999 0.999998 0 8 60 290 0 0 19.798375 121 60 4471 211 0.062016 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 29874719 29874719 __UNKNOWN__ IGR SNP G G T rs9259609 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:29874719G>T NA NA HLA-G (75817 upstream) : HLA-A (34317 downstream) NA NA NA AGCCCTTTAGGTCTTCCTAGT 0.483 NA N||| 3163 0.631589 0.6793 0.6801 5008 , , NA 18317 0.5556 NA 0.6402 False NA ,,, NA NA NA 2504 0.6022 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.29874719G>T NA hg19 0.02 -0.3597 TAGxTCT COVERED NOVEL 0 0 2.708951 KEEP 0 0 0 9 327 GG 0.99254 0.882244 0 3 60 110 0 0 7.771421 38 60 1404 68 0.073171 0.888875 HLA-A 3105 __UNKNOWN__ __UNKNOWN__ 6 29911505 29911505 __UNKNOWN__ Intron SNP C C G rs41543412 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:29911505C>G ENST00000396634.1 + 5 960 HLA-A_ENST00000376802.2_Intron|HLA-A_ENST00000376806.5_Intron|HLA-A_ENST00000376809.5_Intron P16189 1A31_HUMAN major histocompatibility complex, class I, A NA NA antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032) cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886) beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977) central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 GCCCTGCTCTCTGACACAATT 0.532 NA Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) c||| 447 0.0892572 0.0938 0.0706 5008 , , NA 20503 0.121 NA 0.0338 False NA ,,, NA NA NA 2504 0.1207 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial D32129 CCDS34373.1 6p21.3 2013-01-11 ENSG00000206503 ENSG00000206503 3105 Histocompatibility complex, Immunoglobulin superfamily / C1-set domain containing 4931 protein-coding gene gene with protein product 142800 NA 8838351 Standard NM_002116 NM_001242758 NA Approved uc003nol.3 P01891 OTTHUMG00000130501 ENST00000396634.1:c.619+185C>G chr6.hg19:g.29911505C>G NA O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7 hg19 CCDS34373.1 0.02 2.047323 TCTxTGA COVERED NOVEL HLA-A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252909.1 2 5.115969 KEEP 0 0 0 17 579 CC 0.999366 0.997265 0 + 4 60 147 0 0 9.876927 69 60 2584 93 ENST00000396634.1 0.054795 0.997898 HLA-A 3105 __UNKNOWN__ __UNKNOWN__ 6 29911673 29911673 __UNKNOWN__ Intron SNP A A T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:29911673A>T ENST00000396634.1 + 6 960 HLA-A_ENST00000376802.2_Intron|HLA-A_ENST00000376806.5_Intron|HLA-A_ENST00000376809.5_Intron P16189 1A31_HUMAN major histocompatibility complex, class I, A NA NA antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032) cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886) beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977) central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 TGAGTCCAGCACTTCTGAGTC 0.567 NA Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial D32129 CCDS34373.1 6p21.3 2013-01-11 ENSG00000206503 ENSG00000206503 3105 Histocompatibility complex, Immunoglobulin superfamily / C1-set domain containing 4931 protein-coding gene gene with protein product 142800 NA 8838351 Standard NM_002116 NM_001242758 NA Approved uc003nol.3 P01891 OTTHUMG00000130501 ENST00000396634.1:c.620-226A>T chr6.hg19:g.29911673A>T NA O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7 hg19 CCDS34373.1 0.02 -0.402743 AGCxCTT COVERED NOVEL HLA-A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252909.1 2 4.213103 KEEP 0 0 0 14 450 AA 0.995343 0.93014 0 + 4 51 104 0 0 6.587539 42 60 1522 76 ENST00000396634.1 0.086957 0.934492 HLA-A 3105 __UNKNOWN__ __UNKNOWN__ 6 29912108 29912108 __UNKNOWN__ Missense_Mutation SNP G G C rs2231095 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:29912108G>C ENST00000396634.1 + 6 1170 c.829G>C c.(829-831)Gag>Cag p.E277Q HLA-A_ENST00000376802.2_Missense_Mutation_p.E277Q|HLA-A_ENST00000376806.5_Missense_Mutation_p.E277Q|HLA-A_ENST00000376809.5_Missense_Mutation_p.E277Q P16189 1A31_HUMAN major histocompatibility complex, class I, A 277 Alpha-3.|Ig-like C1-type. NA antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032) cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886) beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977) central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 GCCTTCTGGAGAGGAGCAGAG 0.617 NA Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) g||| 2247 0.448682 0.5129 0.4856 5008 , , NA 18227 0.4167 NA 0.4344 False NA ,,, NA NA NA 2504 0.3834 NA NA NA NA 0 41 38 39 NA NA 6 NA 29912108 1511 2707 4218 SO:0001583 missense Familial Cancer Database Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial D32129 CCDS34373.1 6p21.3 2013-01-11 ENSG00000206503 ENSG00000206503 3105 Histocompatibility complex, Immunoglobulin superfamily / C1-set domain containing 4931 protein-coding gene gene with protein product 142800 NA 8838351 Standard NM_002116 NM_001242758 NA Approved uc003nol.3 P01891 OTTHUMG00000130501 ENST00000396634.1:c.829G>C chr6.hg19:g.29912108G>C ENSP00000379873:p.Glu277Gln NA O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7 hg19 CCDS34373.1 0.02 7.100759 GGAxAGG COVERED . . . . . . . . . . . 1.666 -0.510311 0.04231 . . ENSG00000206503 ENST00000396634;ENST00000376806;ENST00000536480;ENST00000376809;ENST00000376802 T;T;T;T 0.02974 4.09;4.09;4.09;4.09 3.69 -1.97 0.07503 Immunoglobulin-like (4);Immunoglobulin C1-set (8);Immunoglobulin-like fold (4); 0.573958 0.13893 U 0.355507 T 0.01695 0.0054 . . . 0.53688 P 2.199999999996649E-5 P;B;B;B;B;B;B 0.43633 0.813;0.0;0.041;0.0;0.134;0.0;0.0 P;B;B;B;B;B;B 0.58520 0.84;0.002;0.12;0.002;0.12;0.004;0.001 T 0.36383 -0.9750 8 0.09843 T 0.71 . 7.9497 0.30008 0.103:0.4273:0.4697:0.0 rs2231095;rs9260183;rs16896035;rs41547214 156;277;277;277;277;277;277 B4DVB9;P13746;Q5SRN7;P16188;Q5SRN5;P30455;P04439 .;1A11_HUMAN;.;1A30_HUMAN;.;1A36_HUMAN;1A03_HUMAN Q 277;277;65;277;277 ENSP00000379873:E277Q;ENSP00000366002:E277Q;ENSP00000366005:E277Q;ENSP00000365998:E277Q ENSP00000365998:E277Q E + 1 0 HLA-A 30020087 0.001000 0.12720 0.962000 0.40283 0.439000 0.31926 0.112000 0.15479 -0.204000 0.10235 -3.416000 0.00038 GAG NOVEL HLA-A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252909.1 1 7.155257 KEEP 8 1 38 37 1268 GG 1 1 0 + 7 49 274 0 0 17.961289 169 50 6224 248 ENST00000396634.1 0.039773 1 HLA-A 3105 __UNKNOWN__ __UNKNOWN__ 6 29912204 29912204 __UNKNOWN__ Intron SNP C C T rs2276447 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:29912204C>T ENST00000396634.1 + 6 1236 HLA-A_ENST00000376802.2_Intron|HLA-A_ENST00000376806.5_Intron|HLA-A_ENST00000376809.5_Intron P16189 1A31_HUMAN major histocompatibility complex, class I, A NA NA antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032) cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886) beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977) central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 TGTCATGTCTCTTAGGGAAAG 0.592 NA Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) c||| 2682 0.535543 0.6051 0.6023 5008 , , NA 20083 0.4881 NA 0.5229 False NA ,,, NA NA NA 2504 0.456 NA NA NA NA 0 54 52 53 NA NA 6 NA 29912204 1511 2709 4220 SO:0001627 intron_variant Familial Cancer Database Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial D32129 CCDS34373.1 6p21.3 2013-01-11 ENSG00000206503 ENSG00000206503 3105 Histocompatibility complex, Immunoglobulin superfamily / C1-set domain containing 4931 protein-coding gene gene with protein product 142800 NA 8838351 Standard NM_002116 NM_001242758 NA Approved uc003nol.3 P01891 OTTHUMG00000130501 ENST00000396634.1:c.895+30C>T chr6.hg19:g.29912204C>T NA O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7 hg19 CCDS34373.1 0.02 10.807594 TCTxTTA COVERED NOVEL HLA-A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252909.1 2 19.768178 KEEP 0 3 92 98 3479 CC 1 1 0 + 14 60 520 0 0 34.119611 286 60 10765 510 ENST00000396634.1 0.046667 1 HLA-A 3105 __UNKNOWN__ __UNKNOWN__ 6 29913483 29913483 __UNKNOWN__ 3'UTR SNP T T C rs79244404 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:29913483T>C ENST00000396634.1 + 0 1690 HLA-A_ENST00000376802.2_3'UTR|HLA-A_ENST00000376806.5_3'UTR|HLA-A_ENST00000376809.5_3'UTR P16189 1A31_HUMAN major histocompatibility complex, class I, A NA NA antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032) cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886) beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977) central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 TCCATCTCTGTCTCAACTTCA 0.473 NA Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) t||| 1002 0.20008 0.27 0.1628 5008 , , NA 22052 0.1726 NA 0.159 False NA ,,, NA NA NA 2504 0.2025 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Familial Cancer Database Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial D32129 CCDS34373.1 6p21.3 2013-01-11 ENSG00000206503 ENSG00000206503 3105 Histocompatibility complex, Immunoglobulin superfamily / C1-set domain containing 4931 protein-coding gene gene with protein product 142800 NA 8838351 Standard NM_002116 NM_001242758 NA Approved uc003nol.3 P01891 OTTHUMG00000130501 ENST00000396634.1:c.*251T>C chr6.hg19:g.29913483T>C NA O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7 hg19 CCDS34373.1 0.02 14.495708 CTGxCTC COVERED NOVEL HLA-A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252909.1 4 26.475658 KEEP 0 0 0 88 2800 TT 1 1 0 + 11 60 376 0 0 21.269498 372 60 13314 579 ENST00000396634.1 0.028721 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 29939677 29939677 __UNKNOWN__ IGR SNP A A T rs9260794 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:29939677A>T NA NA HLA-A (26016 upstream) : HCG9 (3211 downstream) NA NA NA AGAGTAGGAAAGCCTAGAGCC 0.532 NA a||| 4061 0.810903 0.8434 0.853 5008 , , NA 17805 0.752 NA 0.8211 False NA ,,, NA NA NA 2504 0.7873 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.29939677A>T NA hg19 0.02 -0.271975 GAAxGCC COVERED NOVEL 0 0 2.40717 KEEP 0 0 0 8 251 AA 0.99257 0.711986 0 4 60 151 0 0 11.831814 27 60 1019 46 0.129032 0.717315 ZNRD1-AS1 80862 __UNKNOWN__ __UNKNOWN__ 6 29974346 29974346 __UNKNOWN__ RNA SNP G G C rs73414461 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:29974346G>C ENST00000376797.3 - 0 1346 ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA Q2KJ03 ZRAS1_HUMAN ZNRD1 antisense RNA 1 NA NA NA CGCACCCACCGGGACTCGGAG 0.687 NA G||| 760 0.151757 0.2496 0.1354 5008 , , NA 13683 0.1607 NA 0.0457 False NA ,,, NA NA NA 2504 0.1309 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AF032110 6p21.33 2014-08-14 2012-08-15 2010-11-25 ENSG00000204623 ENSG00000204623 80862 Long non-coding RNAs 13924 non-coding RNA RNA, long non-coding 615714 chromosome 6 open reading frame 12, non-protein coding RNA 171, ZNRD1 antisense RNA (non-protein coding), ZNRD1 antisense RNA 1 (non-protein coding) C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS NA 9553157, 11130983, 25110835 Standard NR_026751 NR_026751 NA Approved HTEX4, Em:AB023056.3 uc003rto.3 Q2KJ03 OTTHUMG00000031109 ENST00000376797.3: chr6.hg19:g.29974346G>C NA hg19 0.02 7.010034 ACCxGGA COVERED NOVEL ZNRD1-AS1-006 KNOWN basic|exp_conf antisense NA antisense OTTHUMT00000253083.1 0 21.966737 KEEP 0 0 0 73 2456 GG 1 1 0 - 7 60 256 0 0 16.148729 170 60 5925 311 ENST00000376797.3 0.039548 1 ZNRD1-AS1 80862 __UNKNOWN__ __UNKNOWN__ 6 29975950 29975950 __UNKNOWN__ RNA SNP C C T rs3765606 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:29975950C>T ENST00000376797.3 - 0 1053 ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA Q2KJ03 ZRAS1_HUMAN ZNRD1 antisense RNA 1 NA NA NA CTGAGTTTTCCGACTCTTCCT 0.587 NA T||| 962 0.192093 0.2995 0.1744 5008 , , NA 15399 0.1915 NA 0.0964 False NA ,,, NA NA NA 2504 0.1585 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AF032110 6p21.33 2014-08-14 2012-08-15 2010-11-25 ENSG00000204623 ENSG00000204623 80862 Long non-coding RNAs 13924 non-coding RNA RNA, long non-coding 615714 chromosome 6 open reading frame 12, non-protein coding RNA 171, ZNRD1 antisense RNA (non-protein coding), ZNRD1 antisense RNA 1 (non-protein coding) C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS NA 9553157, 11130983, 25110835 Standard NR_026751 NR_026751 NA Approved HTEX4, Em:AB023056.3 uc003rto.3 Q2KJ03 OTTHUMG00000031109 ENST00000376797.3: chr6.hg19:g.29975950C>T NA hg19 0.02 4.490893 TTCxGAC COVERED NOVEL ZNRD1-AS1-006 KNOWN basic|exp_conf antisense NA antisense OTTHUMT00000253083.1 0 4.04605 KEEP 0 1 30 24 809 CC 0.999931 0.999931 0 - 5 60 193 0 0 12.518851 123 60 4288 208 ENST00000376797.3 0.039062 1 ZNRD1-AS1 80862 __UNKNOWN__ __UNKNOWN__ 6 29976024 29976024 __UNKNOWN__ RNA SNP C C G rs3765604 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:29976024C>G ENST00000376797.3 - 0 1053 ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA Q2KJ03 ZRAS1_HUMAN ZNRD1 antisense RNA 1 NA NA NA ATAACGAGGTCCTGGGTTCTG 0.592 NA G||| 959 0.191494 0.2988 0.1744 5008 , , NA 14956 0.1905 NA 0.0954 False NA ,,, NA NA NA 2504 0.1585 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AF032110 6p21.33 2014-08-14 2012-08-15 2010-11-25 ENSG00000204623 ENSG00000204623 80862 Long non-coding RNAs 13924 non-coding RNA RNA, long non-coding 615714 chromosome 6 open reading frame 12, non-protein coding RNA 171, ZNRD1 antisense RNA (non-protein coding), ZNRD1 antisense RNA 1 (non-protein coding) C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS NA 9553157, 11130983, 25110835 Standard NR_026751 NR_026751 NA Approved HTEX4, Em:AB023056.3 uc003rto.3 Q2KJ03 OTTHUMG00000031109 ENST00000376797.3: chr6.hg19:g.29976024C>G NA hg19 0.02 4.463702 GGTxCTG COVERED NOVEL ZNRD1-AS1-006 KNOWN basic|exp_conf antisense NA antisense OTTHUMT00000253083.1 0 2.543794 KEEP 0 1 36 21 731 CC 0.999879 0.99986 0 - 5 60 190 0 0 12.745521 96 60 3372 163 ENST00000376797.3 0.049505 0.999981 ZNRD1-AS1 80862 __UNKNOWN__ __UNKNOWN__ 6 29976838 29976838 __UNKNOWN__ RNA SNP A A G rs2275854 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:29976838A>G ENST00000376797.3 - 0 841 ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA Q2KJ03 ZRAS1_HUMAN ZNRD1 antisense RNA 1 NA NA NA GAAACTTCTCAAGGTTCCAAG 0.522 NA G||| 3793 0.757388 0.6755 0.7896 5008 , , NA 21034 0.7917 NA 0.7843 False NA ,,, NA NA NA 2504 0.7822 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AF032110 6p21.33 2014-08-14 2012-08-15 2010-11-25 ENSG00000204623 ENSG00000204623 80862 Long non-coding RNAs 13924 non-coding RNA RNA, long non-coding 615714 chromosome 6 open reading frame 12, non-protein coding RNA 171, ZNRD1 antisense RNA (non-protein coding), ZNRD1 antisense RNA 1 (non-protein coding) C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS NA 9553157, 11130983, 25110835 Standard NR_026751 NR_026751 NA Approved HTEX4, Em:AB023056.3 uc003rto.3 Q2KJ03 OTTHUMG00000031109 ENST00000376797.3: chr6.hg19:g.29976838A>G NA hg19 0.02 15.187098 CTCxAGG COVERED NOVEL ZNRD1-AS1-006 KNOWN basic|exp_conf antisense NA antisense OTTHUMT00000253083.1 3 10.134739 KEEP 0 3 104 70 2194 AA 1 1 0 - 24 60 823 0 0 55.311486 344 60 12691 556 ENST00000376797.3 0.065217 1 ZNRD1-AS1 80862 __UNKNOWN__ __UNKNOWN__ 6 29976842 29976842 __UNKNOWN__ RNA SNP T T G rs9261113 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:29976842T>G ENST00000376797.3 - 0 837 ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA Q2KJ03 ZRAS1_HUMAN ZNRD1 antisense RNA 1 NA NA NA CTTCTCAAGGTTCCAAGACTA 0.517 NA G||| 1027 0.205072 0.3011 0.1888 5008 , , NA 20960 0.1915 NA 0.1292 False NA ,,, NA NA NA 2504 0.1789 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AF032110 6p21.33 2014-08-14 2012-08-15 2010-11-25 ENSG00000204623 ENSG00000204623 80862 Long non-coding RNAs 13924 non-coding RNA RNA, long non-coding 615714 chromosome 6 open reading frame 12, non-protein coding RNA 171, ZNRD1 antisense RNA (non-protein coding), ZNRD1 antisense RNA 1 (non-protein coding) C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS NA 9553157, 11130983, 25110835 Standard NR_026751 NR_026751 NA Approved HTEX4, Em:AB023056.3 uc003rto.3 Q2KJ03 OTTHUMG00000031109 ENST00000376797.3: chr6.hg19:g.29976842T>G NA hg19 0.02 15.708598 AGGxTCC COVERED NOVEL ZNRD1-AS1-006 KNOWN basic|exp_conf antisense NA antisense OTTHUMT00000253083.1 3 22.561488 KEEP 0 0 0 75 2268 TT 1 1 0 - 11 60 392 0 0 23.014714 366 60 12925 568 ENST00000376797.3 0.029178 1 ZNRD1-AS1 80862 __UNKNOWN__ __UNKNOWN__ 6 29977145 29977145 __UNKNOWN__ RNA SNP G G C rs356969 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:29977145G>C ENST00000376797.3 - 0 731 ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA Q2KJ03 ZRAS1_HUMAN ZNRD1 antisense RNA 1 NA NA NA GCTTGTAAAGGTGAGACCCTG 0.512 NA G||| 1168 0.233227 0.1112 0.1988 5008 , , NA 16615 0.2937 NA 0.2604 False NA ,,, NA NA NA 2504 0.3323 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AF032110 6p21.33 2014-08-14 2012-08-15 2010-11-25 ENSG00000204623 ENSG00000204623 80862 Long non-coding RNAs 13924 non-coding RNA RNA, long non-coding 615714 chromosome 6 open reading frame 12, non-protein coding RNA 171, ZNRD1 antisense RNA (non-protein coding), ZNRD1 antisense RNA 1 (non-protein coding) C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS NA 9553157, 11130983, 25110835 Standard NR_026751 NR_026751 NA Approved HTEX4, Em:AB023056.3 uc003rto.3 Q2KJ03 OTTHUMG00000031109 ENST00000376797.3: chr6.hg19:g.29977145G>C NA hg19 0.02 13.870071 AAGxTGA COVERED NOVEL ZNRD1-AS1-006 KNOWN basic|exp_conf antisense NA antisense OTTHUMT00000253083.1 0 14.445932 KEEP 0 0 0 48 1665 GG 1 1 0 - 12 60 402 0 0 24.430295 291 60 10455 430 ENST00000376797.3 0.039604 1 ZNRD1-AS1 80862 __UNKNOWN__ __UNKNOWN__ 6 29977350 29977350 __UNKNOWN__ RNA SNP T T G rs2275852 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:29977350T>G ENST00000376797.3 - 0 731 ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA Q2KJ03 ZRAS1_HUMAN ZNRD1 antisense RNA 1 NA NA NA AGAGGCAAGATTTGTTCATGC 0.438 NA T||| 737 0.147165 0.2428 0.1297 5008 , , NA 21676 0.1528 NA 0.0457 False NA ,,, NA NA NA 2504 0.1288 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AF032110 6p21.33 2014-08-14 2012-08-15 2010-11-25 ENSG00000204623 ENSG00000204623 80862 Long non-coding RNAs 13924 non-coding RNA RNA, long non-coding 615714 chromosome 6 open reading frame 12, non-protein coding RNA 171, ZNRD1 antisense RNA (non-protein coding), ZNRD1 antisense RNA 1 (non-protein coding) C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS NA 9553157, 11130983, 25110835 Standard NR_026751 NR_026751 NA Approved HTEX4, Em:AB023056.3 uc003rto.3 Q2KJ03 OTTHUMG00000031109 ENST00000376797.3: chr6.hg19:g.29977350T>G NA hg19 0.02 25.322727 AGAxTTG COVERED NOVEL ZNRD1-AS1-006 KNOWN basic|exp_conf antisense NA antisense OTTHUMT00000253083.1 33 21.298 KEEP 0 1 35 83 2624 TT 1 1 0 - 16 60 591 0 0 35.678511 508 60 18483 782 ENST00000376797.3 0.030534 1 ZNRD1-AS1 80862 __UNKNOWN__ __UNKNOWN__ 6 30025179 30025179 __UNKNOWN__ RNA SNP G G A rs6911724 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:30025179G>A ENST00000431012.1 - 0 492 ZNRD1-AS1_ENST00000421692.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000437417.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000376797.3_RNA|ZNRD1-AS1_ENST00000452229.1_RNA|ZNRD1-AS1_ENST00000422224.1_RNA Q2KJ03 ZRAS1_HUMAN ZNRD1 antisense RNA 1 NA NA NA TGTCTAAATGGTTTGTTCTTA 0.398 NA A||| 837 0.167133 0.2943 0.1081 5008 , , NA 19870 0.1548 NA 0.0805 False NA ,,, NA NA NA 2504 0.1391 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AF032110 6p21.33 2014-08-14 2012-08-15 2010-11-25 ENSG00000204623 ENSG00000204623 80862 Long non-coding RNAs 13924 non-coding RNA RNA, long non-coding 615714 chromosome 6 open reading frame 12, non-protein coding RNA 171, ZNRD1 antisense RNA (non-protein coding), ZNRD1 antisense RNA 1 (non-protein coding) C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS NA 9553157, 11130983, 25110835 Standard NR_026751 NR_026751 NA Approved HTEX4, Em:AB023056.3 uc003rto.3 Q2KJ03 OTTHUMG00000031109 ENST00000431012.1: chr6.hg19:g.30025179G>A NA hg19 0.02 28.788948 ATGxTTT COVERED NOVEL ZNRD1-AS1-005 KNOWN basic|exp_conf antisense NA antisense OTTHUMT00000253082.1 8 34.581381 KEEP 0 2 63 137 4838 GG 1 1 0 - 24 60 886 0 0 54.832534 666 60 24746 963 ENST00000431012.1 0.034783 1 ZNRD1-AS1 80862 __UNKNOWN__ __UNKNOWN__ 6 30025285 30025285 __UNKNOWN__ RNA SNP C C T rs6911634 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:30025285C>T ENST00000431012.1 - 0 386 ZNRD1-AS1_ENST00000421692.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000437417.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000376797.3_RNA|ZNRD1-AS1_ENST00000452229.1_RNA|ZNRD1-AS1_ENST00000422224.1_RNA Q2KJ03 ZRAS1_HUMAN ZNRD1 antisense RNA 1 NA NA NA CTTCTACGCTCTGGGTTGTTT 0.363 NA T||| 837 0.167133 0.2943 0.1081 5008 , , NA 20099 0.1548 NA 0.0805 False NA ,,, NA NA NA 2504 0.1391 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AF032110 6p21.33 2014-08-14 2012-08-15 2010-11-25 ENSG00000204623 ENSG00000204623 80862 Long non-coding RNAs 13924 non-coding RNA RNA, long non-coding 615714 chromosome 6 open reading frame 12, non-protein coding RNA 171, ZNRD1 antisense RNA (non-protein coding), ZNRD1 antisense RNA 1 (non-protein coding) C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS NA 9553157, 11130983, 25110835 Standard NR_026751 NR_026751 NA Approved HTEX4, Em:AB023056.3 uc003rto.3 Q2KJ03 OTTHUMG00000031109 ENST00000431012.1: chr6.hg19:g.30025285C>T NA hg19 0.02 16.557554 GCTxTGG COVERED NOVEL ZNRD1-AS1-005 KNOWN basic|exp_conf antisense NA antisense OTTHUMT00000253082.1 3 21.30548 KEEP 0 1 32 82 2994 CC 1 1 0 - 14 60 510 0 0 30.611797 436 60 16672 634 ENST00000431012.1 0.031111 1 ZNRD1 30834 __UNKNOWN__ __UNKNOWN__ 6 30029109 30029109 __UNKNOWN__ 5'UTR SNP C C G rs372190606|rs7770557 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:30029109C>G ENST00000332435.5 + 0 79 ZNRD1_ENST00000376782.2_5'UTR|ZNRD1-AS1_ENST00000437417.1_RNA|ZNRD1_ENST00000359374.4_5'UTR|ZNRD1_ENST00000463141.1_3'UTR|ZNRD1_ENST00000376785.2_5'UTR NM_170783.2 NP_740753.1 Q9P1U0 RPA12_HUMAN zinc ribbon domain containing 1 NA NA nucleobase-containing compound metabolic process (GO:0006139)|termination of RNA polymerase I transcription (GO:0006363) DNA-directed RNA polymerase I complex (GO:0005736) DNA-directed RNA polymerase activity (GO:0003899)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270) NA GGTTCCAAGTCCTTTAGTACC 0.637 NA C||| 835 0.166733 0.2943 0.1081 5008 , , NA 17201 0.1528 NA 0.0805 False NA ,,, NA NA NA 2504 0.1391 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF024617 CCDS4670.1 6p21 2011-02-18 2006-04-04 ENSG00000066379 ENSG00000066379 30834 13182 protein-coding gene gene with protein product 607525 zinc ribbon domain containing, 1 NA 8938444, 10662553 Standard NM_170783 NA Approved hZR14, HTEX-6, tctex-6, RPA12 uc003npa.3 Q9P1U0 OTTHUMG00000031149 ENST00000332435.5:c.-193C>G chr6.hg19:g.30029109C>G NA hg19 CCDS4670.1 0.02 9.303439 AGTxCTT COVERED NOVEL ZNRD1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076272.2 0 17.591068 KEEP 0 1 33 70 2434 CC 1 1 0 + 7 60 265 0 0 16.360597 214 60 7746 340 ENST00000332435.5 0.031674 1 ZNRD1 30834 __UNKNOWN__ __UNKNOWN__ 6 30032673 30032673 __UNKNOWN__ 3'UTR SNP A A G rs3188482|rs386698693 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:30032673A>G ENST00000332435.5 + 0 851 ZNRD1_ENST00000376782.2_3'UTR|ZNRD1_ENST00000359374.4_3'UTR|ZNRD1_ENST00000463141.1_3'UTR|ZNRD1_ENST00000376785.2_3'UTR NM_170783.2 NP_740753.1 Q9P1U0 RPA12_HUMAN zinc ribbon domain containing 1 NA NA nucleobase-containing compound metabolic process (GO:0006139)|termination of RNA polymerase I transcription (GO:0006363) DNA-directed RNA polymerase I complex (GO:0005736) DNA-directed RNA polymerase activity (GO:0003899)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270) NA ATATTTTTCTATAAGACCCTG 0.328 NA A||| 724 0.144569 0.2458 0.1311 5008 , , NA 16759 0.1379 NA 0.0437 False NA ,,, NA NA NA 2504 0.1278 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF024617 CCDS4670.1 6p21 2011-02-18 2006-04-04 ENSG00000066379 ENSG00000066379 30834 13182 protein-coding gene gene with protein product 607525 zinc ribbon domain containing, 1 NA 8938444, 10662553 Standard NM_170783 NA Approved hZR14, HTEX-6, tctex-6, RPA12 uc003npa.3 Q9P1U0 OTTHUMG00000031149 ENST00000332435.5:c.*199A>G chr6.hg19:g.30032673A>G NA hg19 CCDS4670.1 0.02 10.583337 TCTxTAA COVERED NOVEL ZNRD1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076272.2 4 24.743569 KEEP 0 2 74 108 3328 AA 1 1 0 + 9 60 333 0 0 20.321604 271 60 9977 461 ENST00000332435.5 0.032143 1 PPP1R11 6992 __UNKNOWN__ __UNKNOWN__ 6 30036471 30036471 __UNKNOWN__ Silent SNP C C A rs2074482 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:30036471C>A ENST00000376772.3 + 2 497 c.174C>A c.(172-174)tcC>tcA p.S58S PPP1R11_ENST00000376769.2_Silent_p.S6S|PPP1R11_ENST00000376773.1_Silent_p.S6S|PPP1R11_ENST00000376763.1_Silent_p.S6S|PPP1R11_ENST00000376758.1_Silent_p.S6S|PPP1R11_ENST00000376765.2_Silent_p.S6S NM_021959.2 NP_068778.1 O60927 PP1RB_HUMAN protein phosphatase 1, regulatory (inhibitor) subunit 11 58 NA cytoplasm (GO:0005737) protein phosphatase inhibitor activity (GO:0004864) lung(2)|ovary(1)|prostate(1)|skin(2) 6 GCCGCTCATCCAAATGTGAGT 0.507 NA A||| 958 0.191294 0.2988 0.1744 5008 , , NA 18885 0.1905 NA 0.0954 False NA ,,, NA NA NA 2504 0.1575 NA NA NA Pancreas(185;1767 3918 43793) NA 0 A 772,2250 93,586,832 78 72 74 174 -0.3 1 6 dbSNP_96 74 650,4768 48,554,2107 no coding-synonymous PPP1R11 NM_021959.2 141,1140,2939 AA,AC,CC 11.997,25.546,16.8483 58/127 30036471 1422,7018 1511 2709 4220 SO:0001819 synonymous_variant X81003 CCDS4671.1 6p21.3 2012-04-17 ENSG00000204619 ENSG00000204619 6992 Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits 9285 protein-coding gene gene with protein product 606670 TCTE5 NA 9843442, 8781118 Standard NM_021959 NM_021959 NA Approved HCGV, Tctex5, HCG-V uc003npb.3 O60927 OTTHUMG00000031260 ENST00000376772.3:c.174C>A chr6.hg19:g.30036471C>A NA hg19 CCDS4671.1 0.02 22.137812 ATCxAAA COVERED NOVEL PPP1R11-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076557.3 3 57.592791 KEEP 0 3 93 224 8028 CC 1 1 0 + 16 60 600 0 0 36.496713 513 60 19807 984 ENST00000376772.3 0.030246 1 RNF39 80352 __UNKNOWN__ __UNKNOWN__ 6 30038712 30038712 __UNKNOWN__ 3'UTR SNP C C T rs9261291 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:30038712C>T ENST00000244360.6 - 0 1536 RNF39_ENST00000376751.3_3'UTR NM_025236.3 NP_079512.2 Q9H2S5 RNF39_HUMAN ring finger protein 39 NA NA cytoplasm (GO:0005737) zinc ion binding (GO:0008270) NA TGAGCAGGGACGTGGAAACGT 0.473 NA T||| 958 0.191294 0.2988 0.1744 5008 , , NA 19891 0.1905 NA 0.0954 False NA ,,, NA NA NA 2504 0.1575 NA NA NA NSCLC(8;188 360 1520 20207 31481) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF238315 CCDS4673.1, CCDS4674.1 6p21.3 2013-01-09 ENSG00000204618 ENSG00000204618 80352 RING-type (C3HC4) zinc fingers 18064 protein-coding gene gene with protein product 607524 NA 11130983, 11716498 Standard NM_170769 NM_170769 NA Approved HZFw1, LIRF uc003npe.3 Q9H2S5 OTTHUMG00000031288 ENST00000244360.6:c.*176G>A chr6.hg19:g.30038712C>T NA A2BEK3|A6NCD6|B0S858|Q5SPM8|Q5SPM9|Q5SPN0|Q5SRJ9|Q5SRK1|Q5SS29|Q9H2S3|Q9H2S4 hg19 CCDS4673.1 0.02 37.703387 GGAxGTG COVERED 404 0.184981684981685 146 0.2967479674796748 72 0.19889502762430938 115 0.20104895104895104 71 0.09366754617414248 T 2.034 -0.421771 0.04734 . . ENSG00000204618 ENST00000376746 . . . 3.0 -1.96 0.07525 . . . . . T 0.15219 0.0367 . . . 0.80722 P 0.0 . . . . . . T 0.31447 -0.9943 4 0.87932 D 0 . 1.2081 0.01899 0.1501:0.1898:0.152:0.508 rs9261291;rs52794524;rs9261291 . . . H 202 . ENSP00000365937:R202H R - 2 0 RNF39 30146691 0.000000 0.05858 0.001000 0.08648 0.001000 0.01503 -0.511000 0.06321 -0.969000 0.03573 -3.160000 0.00057 CGT NOVEL RNF39-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000076625.3 5 56.866574 KEEP 0 2 42 204 7112 CC 1 1 0 - 24 60 890 0 0 52.988458 829 60 28946 1303 ENST00000244360.6 0.028136 1 RNF39 80352 __UNKNOWN__ __UNKNOWN__ 6 30038823 30038823 __UNKNOWN__ 3'UTR SNP A A G rs73728107 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:30038823A>G ENST00000244360.6 - 0 1425 RNF39_ENST00000376751.3_3'UTR NM_025236.3 NP_079512.2 Q9H2S5 RNF39_HUMAN ring finger protein 39 NA NA cytoplasm (GO:0005737) zinc ion binding (GO:0008270) NA TGAGTGGGGAATTCCACCCCC 0.537 NA A||| 749 0.149561 0.2489 0.134 5008 , , NA 17010 0.1528 NA 0.0447 False NA ,,, NA NA NA 2504 0.1309 NA NA NA NSCLC(8;188 360 1520 20207 31481) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF238315 CCDS4673.1, CCDS4674.1 6p21.3 2013-01-09 ENSG00000204618 ENSG00000204618 80352 RING-type (C3HC4) zinc fingers 18064 protein-coding gene gene with protein product 607524 NA 11130983, 11716498 Standard NM_170769 NM_170769 NA Approved HZFw1, LIRF uc003npe.3 Q9H2S5 OTTHUMG00000031288 ENST00000244360.6:c.*65T>C chr6.hg19:g.30038823A>G NA A2BEK3|A6NCD6|B0S858|Q5SPM8|Q5SPM9|Q5SPN0|Q5SRJ9|Q5SRK1|Q5SS29|Q9H2S3|Q9H2S4 hg19 CCDS4673.1 0.02 24.486738 GGAxTTC COVERED 299 0.13690476190476192 120 0.24390243902439024 56 0.15469613259668508 90 0.15734265734265734 33 0.04353562005277045 A 7.466 0.645639 0.14451 . . ENSG00000204618 ENST00000376746 . . . 3.0 1.8 0.24995 . . . . . T 0.10551 0.0258 . . . 0.80722 P 0.0 . . . . . . T 0.24119 -1.0169 4 0.14656 T 0.56 . 5.7256 0.18010 0.4726:0.0:0.0:0.5274 . . . . T 165 . ENSP00000365937:I165T I - 2 0 RNF39 30146802 0.001000 0.12720 0.002000 0.10522 0.080000 0.17528 0.114000 0.15520 0.521000 0.28445 0.247000 0.18012 ATT NOVEL RNF39-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000076625.3 6 44.364251 KEEP 0 1 39 161 4961 AA 1 1 0 - 14 60 536 0 0 31.655355 565 60 20252 868 ENST00000244360.6 0.02418 1 RNF39 80352 __UNKNOWN__ __UNKNOWN__ 6 30038830 30038830 __UNKNOWN__ 3'UTR SNP C C G rs9261292 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:30038830C>G ENST00000244360.6 - 0 1418 RNF39_ENST00000376751.3_3'UTR NM_025236.3 NP_079512.2 Q9H2S5 RNF39_HUMAN ring finger protein 39 NA NA cytoplasm (GO:0005737) zinc ion binding (GO:0008270) NA GGAATTCCACCCCCAAAAAGC 0.537 NA G||| 958 0.191294 0.2988 0.1744 5008 , , NA 17011 0.1905 NA 0.0954 False NA ,,, NA NA NA 2504 0.1575 NA NA NA NSCLC(8;188 360 1520 20207 31481) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF238315 CCDS4673.1, CCDS4674.1 6p21.3 2013-01-09 ENSG00000204618 ENSG00000204618 80352 RING-type (C3HC4) zinc fingers 18064 protein-coding gene gene with protein product 607524 NA 11130983, 11716498 Standard NM_170769 NM_170769 NA Approved HZFw1, LIRF uc003npe.3 Q9H2S5 OTTHUMG00000031288 ENST00000244360.6:c.*58G>C chr6.hg19:g.30038830C>G NA A2BEK3|A6NCD6|B0S858|Q5SPM8|Q5SPM9|Q5SPN0|Q5SRJ9|Q5SRK1|Q5SS29|Q9H2S3|Q9H2S4 hg19 CCDS4673.1 0.02 22.202465 CACxCCC COVERED 404 0.184981684981685 146 0.2967479674796748 72 0.19889502762430938 115 0.20104895104895104 71 0.09366754617414248 G 2.691 -0.273182 0.05716 . . ENSG00000204618 ENST00000376746 . . . 3.15 -5.0 0.03001 . . . . . T 0.03827 0.0108 . . . 0.80722 P 0.0 . . . . . . T 0.32322 -0.9911 4 0.14656 T 0.56 . 2.3948 0.04387 0.1116:0.3977:0.223:0.2676 rs9261292 . . . R 163 . ENSP00000365937:G163R G - 1 0 RNF39 30146809 0.000000 0.05858 0.000000 0.03702 0.095000 0.18619 -0.191000 0.09601 -1.612000 0.01579 -0.699000 0.03677 GGT NOVEL RNF39-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000076625.3 5 40.268688 KEEP 0 2 66 157 5356 CC 1 1 0 - 15 60 527 0 0 29.804312 552 60 19951 860 ENST00000244360.6 0.026455 1 RNF39 80352 __UNKNOWN__ __UNKNOWN__ 6 30039364 30039364 __UNKNOWN__ Missense_Mutation SNP C C A rs11753382 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:30039364C>A ENST00000244360.6 - 4 884 c.787G>T c.(787-789)Ggc>Tgc p.G263C RNF39_ENST00000376751.3_Missense_Mutation_p.G263C NM_025236.3 NP_079512.2 Q9H2S5 RNF39_HUMAN ring finger protein 39 263 B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}. NA cytoplasm (GO:0005737) zinc ion binding (GO:0008270) NA CGCTTGGGGCCGTCAGGGGGC 0.741 NA c||| 749 0.149561 0.2489 0.134 5008 , , NA 10967 0.1528 NA 0.0447 False NA ,,, NA NA NA 2504 0.1309 NA NA NA NSCLC(8;188 360 1520 20207 31481) NA 0 CYS/GLY,CYS/GLY 414,2026 21,372,827 3 2 2 787,787 0.5 0.1 6 dbSNP_120 2 229,4029 6,217,1906 yes missense,missense RNF39 NM_025236.3,NM_170769.2 159,159 27,589,2733 AA,AC,CC 5.3781,16.9672,9.5999 benign,benign 263/421,263/355 30039364 643,6055 1220 2129 3349 SO:0001583 missense AF238315 CCDS4673.1, CCDS4674.1 6p21.3 2013-01-09 ENSG00000204618 ENSG00000204618 80352 RING-type (C3HC4) zinc fingers 18064 protein-coding gene gene with protein product 607524 NA 11130983, 11716498 Standard NM_170769 NM_170769 NA Approved HZFw1, LIRF uc003npe.3 Q9H2S5 OTTHUMG00000031288 ENST00000244360.6:c.787G>T chr6.hg19:g.30039364C>A ENSP00000244360:p.Gly263Cys NA A2BEK3|A6NCD6|B0S858|Q5SPM8|Q5SPM9|Q5SPN0|Q5SRJ9|Q5SRK1|Q5SS29|Q9H2S3|Q9H2S4 hg19 CCDS4673.1 0.02 1.728468 GGCxGTC COVERED 299 0.13690476190476192 120 0.24390243902439024 56 0.15469613259668508 90 0.15734265734265734 33 0.04353562005277045 c 11.55 1.672102 0.29693 0.169672 0.053781 ENSG00000204618 ENST00000376751;ENST00000244360 T;T 0.10382 2.88;2.88 4.7 0.543 0.17179 Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);B30.2/SPRY domain (1); 0.296117 0.23738 N 0.045041 T 0.03348 0.0097 N 0.19112 0.55 0.48696 P 3.009999999999957E-4 B;P 0.48407 0.06;0.91 B;P 0.47626 0.092;0.552 T 0.41305 -0.9516 9 0.56958 D 0.05 -19.3451 7.7639 0.28968 0.0:0.4441:0.0:0.5559 rs11753382 263;263 Q9H2S5;Q9H2S5-2 RNF39_HUMAN;. C 263 ENSP00000365942:G263C;ENSP00000244360:G263C ENSP00000244360:G263C G - 1 0 RNF39 30147343 0.003000 0.15002 0.059000 0.19551 0.050000 0.14768 0.158000 0.16422 -0.104000 0.12154 0.466000 0.42574 GGC NOVEL RNF39-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000076625.3 1 3.002204 KEEP 0 4 116 51 1626 CC 1 0.999948 0 - 4 60 140 0 0 8.65569 94 60 3023 177 ENST00000244360.6 0.040816 0.999948 RNF39 80352 __UNKNOWN__ __UNKNOWN__ 6 30041009 30041009 __UNKNOWN__ Missense_Mutation SNP A A G rs2074479 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:30041009A>G ENST00000244360.6 - 3 704 c.607T>C c.(607-609)Tcc>Ccc p.S203P RNF39_ENST00000376751.3_Missense_Mutation_p.S203P NM_025236.3 NP_079512.2 Q9H2S5 RNF39_HUMAN ring finger protein 39 203 NA S -> P (in dbSNP:rs2074479). {ECO:0000269|PubMed:14574404}. cytoplasm (GO:0005737) zinc ion binding (GO:0008270) NA GATGACTTGGATGTTGGGACT 0.468 NA g||| 958 0.191294 0.2988 0.1744 5008 , , NA 20885 0.1905 NA 0.0954 False NA ,,, NA NA NA 2504 0.1575 NA NA NA NSCLC(8;188 360 1520 20207 31481) NA 0 PRO/SER,PRO/SER 772,2250 93,586,832 131 128 129 607,607 4 0.7 6 dbSNP_96 129 650,4768 48,554,2107 yes missense,missense RNF39 NM_025236.3,NM_170769.2 74,74 141,1140,2939 GG,GA,AA 11.997,25.546,16.8483 benign,benign 203/421,203/355 30041009 1422,7018 1511 2709 4220 SO:0001583 missense AF238315 CCDS4673.1, CCDS4674.1 6p21.3 2013-01-09 ENSG00000204618 ENSG00000204618 80352 RING-type (C3HC4) zinc fingers 18064 protein-coding gene gene with protein product 607524 NA 11130983, 11716498 Standard NM_170769 NM_170769 NA Approved HZFw1, LIRF uc003npe.3 Q9H2S5 OTTHUMG00000031288 ENST00000244360.6:c.607T>C chr6.hg19:g.30041009A>G ENSP00000244360:p.Ser203Pro NA A2BEK3|A6NCD6|B0S858|Q5SPM8|Q5SPM9|Q5SPN0|Q5SRJ9|Q5SRK1|Q5SS29|Q9H2S3|Q9H2S4 hg19 CCDS4673.1 0.02 13.254075 TGGxTGT COVERED 404 0.184981684981685 146 0.2967479674796748 72 0.19889502762430938 115 0.20104895104895104 71 0.09366754617414248 g 0.008 -1.893380 0.00522 0.25546 0.11997 ENSG00000204618 ENST00000376751;ENST00000244360 T;T 0.70399 0.04;-0.48 3.99 3.99 0.46301 . 0.546488 0.13684 N 0.370007 T 0.19167 0.0460 N 0.01874 -0.695 0.58432 P 5.999999999950489E-6 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.07139 -1.0788 9 0.13470 T 0.59 -19.0329 7.844 0.29414 0.1163:0.0:0.8837:0.0 rs2074479;rs52821835;rs60743069;rs2074479 203;203 Q9H2S5;Q9H2S5-2 RNF39_HUMAN;. P 203 ENSP00000365942:S203P;ENSP00000244360:S203P ENSP00000244360:S203P S - 1 0 RNF39 30148988 0.782000 0.28689 0.659000 0.29680 0.025000 0.11179 0.836000 0.27545 1.050000 0.40346 -0.372000 0.07161 TCC NOVEL RNF39-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000076625.3 1 11.578672 KEEP 0 4 148 90 2869 AA 1 1 0 - 12 60 438 0 0 27.03843 326 60 11844 530 ENST00000244360.6 0.035503 1 TRIM31 11074 __UNKNOWN__ __UNKNOWN__ 6 30076630 30076630 __UNKNOWN__ Intron SNP G G T rs2240068 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:30076630G>T ENST00000376734.3 - 5 893 TRIM31-AS1_ENST00000440874.1_RNA|TRIM31_ENST00000485864.1_Intron|TRIM31_ENST00000540829.1_Intron NM_007028.3 NP_008959.3 Q9BZY9 TRI31_HUMAN tripartite motif containing 31 NA NA innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral release from host cell (GO:1902186) mitochondrion (GO:0005739) ligase activity (GO:0016874)|zinc ion binding (GO:0008270) central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2) 15 AACCAACCACGTGCTAATATG 0.468 NA G||| 2837 0.566494 0.5598 0.5836 5008 , , NA 19664 0.6935 NA 0.494 False NA ,,, NA NA NA 2504 0.5072 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF230386 CCDS34374.1 6p21.3 2013-01-09 2011-01-25 ENSG00000204616 ENSG00000204616 11074 Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers 16289 protein-coding gene gene with protein product 609316 tripartite motif-containing 31 NA 11331580 Standard XM_006714977 NA Approved RNF, HCGI, C6orf13, HCG1 uc003npg.1 Q9BZY9 OTTHUMG00000031064 ENST00000376734.3:c.767+172C>A chr6.hg19:g.30076630G>T NA A6NLX6|A9R9Q4|Q53H52|Q5RI37|Q5SRJ7|Q5SRJ8|Q5SS28|Q96AK4|Q96AP8|Q99579|Q9BZY8 hg19 CCDS34374.1 0.02 4.226893 CACxTGC COVERED NOVEL TRIM31-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076081.2 2 2.407489 KEEP 0 0 0 8 257 GG 0.99257 0.99257 0 - 9 60 323 0 0 22.364869 122 60 3952 148 ENST00000376734.3 0.068702 1 TRIM10 10107 __UNKNOWN__ __UNKNOWN__ 6 30120637 30120637 __UNKNOWN__ 3'UTR SNP T T C rs9468693 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:30120637T>C ENST00000449742.2 - 0 2630 TRIM10_ENST00000376704.3_3'UTR NM_006778.3 NP_006769.2 Q9UDY6 TRI10_HUMAN tripartite motif containing 10 NA NA erythrocyte differentiation (GO:0030218)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597) cytoplasm (GO:0005737) zinc ion binding (GO:0008270) ovary(1) 1 CTAAAGTTCATAGGTCATCCA 0.418 NA T||| 557 0.111222 0.2352 0.085 5008 , , NA 21161 0.0129 NA 0.1044 False NA ,,, NA NA NA 2504 0.0706 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Y07829 CCDS4676.1, CCDS34375.1 6p21.3 2013-01-09 2011-01-25 2001-11-23 ENSG00000204613 ENSG00000204613 10107 Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers 10072 protein-coding gene gene with protein product 605701 tripartite motif-containing 10 RNF9 NA 9271628, 10207104 Standard NM_052828 NA Approved RFB30, HERF1 uc003npo.3 Q9UDY6 OTTHUMG00000031295 ENST00000449742.2:c.*1109A>G chr6.hg19:g.30120637T>C NA A6NF84|Q5SRJ5|Q5SRK8|Q86Z08|Q96QB6|Q9C023|Q9C024 hg19 CCDS34375.1 0.02 7.048169 TCAxAGG COVERED NOVEL TRIM10-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076634.1 1 4.211837 KEEP 0 0 0 14 421 TT 0.995343 0.995343 0 - 7 60 269 0 0 17.325091 177 60 6420 217 ENST00000449742.2 0.038043 1 TRIM10 10107 __UNKNOWN__ __UNKNOWN__ 6 30121605 30121605 __UNKNOWN__ 3'UTR SNP T T C rs3734840 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:30121605T>C ENST00000449742.2 - 0 1662 TRIM10_ENST00000376704.3_Intron NM_006778.3 NP_006769.2 Q9UDY6 TRI10_HUMAN tripartite motif containing 10 NA NA erythrocyte differentiation (GO:0030218)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597) cytoplasm (GO:0005737) zinc ion binding (GO:0008270) ovary(1) 1 TTCTATCCCTTACCACCCGGC 0.517 NA T||| 1029 0.205471 0.025 0.1427 5008 , , NA 19140 0.4048 NA 0.2177 False NA ,,, NA NA NA 2504 0.2761 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Y07829 CCDS4676.1, CCDS34375.1 6p21.3 2013-01-09 2011-01-25 2001-11-23 ENSG00000204613 ENSG00000204613 10107 Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers 10072 protein-coding gene gene with protein product 605701 tripartite motif-containing 10 RNF9 NA 9271628, 10207104 Standard NM_052828 NA Approved RFB30, HERF1 uc003npo.3 Q9UDY6 OTTHUMG00000031295 ENST00000449742.2:c.*141A>G chr6.hg19:g.30121605T>C NA A6NF84|Q5SRJ5|Q5SRK8|Q86Z08|Q96QB6|Q9C023|Q9C024 hg19 CCDS34375.1 0.02 18.846642 CCTxACC COVERED NOVEL TRIM10-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076634.1 0 9.578009 KEEP 0 0 0 32 889 TT 0.999997 0.999997 0 - 16 60 619 0 0 39.890233 412 60 14192 523 ENST00000449742.2 0.037383 1 TRIM39-RPP21 202658 __UNKNOWN__ __UNKNOWN__ 6 30297529 30297529 __UNKNOWN__ Silent SNP T T C rs2057727 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:30297529T>C ENST00000513556.1 + 1 171 c.171T>C c.(169-171)gaT>gaC p.D57D TRIM39_ENST00000376659.5_Silent_p.D145D|TRIM39_ENST00000540416.1_Silent_p.D145D|TRIM39_ENST00000396548.1_Silent_p.D145D|TRIM39_ENST00000376656.4_Silent_p.D145D|TRIM39_ENST00000396551.3_Silent_p.D145D|TRIM39_ENST00000396547.1_Silent_p.D145D NM_001199119.1 NP_001186048.1 TRIM39-RPP21 readthrough NA NA NA CACTGGACGATGCTACACAGG 0.537 NA C||| 1907 0.380791 0.3222 0.4539 5008 , , NA 20492 0.506 NA 0.2525 False NA ,,, NA NA NA 2504 0.411 NA NA NA NA 0 C ,, 879,2137 122,635,751 60 64 63 435,435,435 -1.6 0.6 6 dbSNP_94 63 1357,4057 165,1027,1515 yes coding-synonymous,coding-synonymous,coding-synonymous TRIM39,TRIM39-RPP21 NM_001199119.1,NM_021253.3,NM_172016.2 ,, 287,1662,2266 CC,CT,TT 25.0646,29.1446,26.5243 ,, 145/504,145/519,145/489 30297529 2236,6194 1508 2707 4215 SO:0001819 synonymous_variant 6p22.1 2011-02-21 ENSG00000248167 ENSG00000248167 202658 38845 other readthrough NA Standard NM_001199119.1 NM_001199119 NA Approved uc010jsa.2 OTTHUMG00000161144 ENST00000513556.1:c.171T>C chr6.hg19:g.30297529T>C NA hg19 0.02 3.531147 CGAxGCT COVERED 746 0.3415750915750916 156 0.3170731707317073 147 0.40607734806629836 270 0.47202797202797203 173 0.22823218997361477 C 9.049 0.991596 0.18966 0.291446 0.250646 ENSG00000204599 ENST00000420746 . . . 5.35 -1.57 0.08506 . . . . . T 0.17704 0.0425 . . . 0.09310 P 0.9999999999999996 . . . . . . T 0.18241 -1.0343 3 . . . . 6.5398 0.22375 0.118:0.3956:0.0:0.4864 rs2057727;rs6939906;rs17194831;rs17850232;rs61139874;rs2057727 . . . T 75 . . M + 2 0 TRIM39 30405508 0.037000 0.19845 0.565000 0.28409 0.944000 0.59088 -1.096000 0.03353 -0.658000 0.05366 -0.227000 0.12334 ATG NOVEL TRIM39-RPP21-001 NOVEL mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript protein_coding NA protein_coding OTTHUMT00000363942.1 0 11.735044 KEEP 0 0 0 39 1232 TT 1 0.999991 0 + 5 60 166 0 0 10.199539 103 60 3773 162 ENST00000513556.1 0.046296 0.999991 TRIM39-RPP21 202658 __UNKNOWN__ __UNKNOWN__ 6 30309508 30309508 __UNKNOWN__ Silent SNP T T C rs2074474 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:30309508T>C ENST00000513556.1 + 6 675 c.675T>C c.(673-675)ccT>ccC p.P225P TRIM39_ENST00000376659.5_Silent_p.P313P|TRIM39_ENST00000540416.1_Silent_p.P313P|TRIM39_ENST00000396548.1_Silent_p.P313P|TRIM39_ENST00000376656.4_Silent_p.P343P|TRIM39_ENST00000396551.3_Silent_p.P313P|TRIM39_ENST00000396547.1_Silent_p.P343P NM_001199119.1 NP_001186048.1 TRIM39-RPP21 readthrough NA NA NA CCCTGGACCCTGAGACAGCTC 0.562 NA T||| 1887 0.376797 0.3109 0.451 5008 , , NA 20955 0.5119 NA 0.2435 False NA ,,, NA NA NA 2504 0.411 NA NA NA NA 0 T ,, 852,2170 114,624,773 59 44 49 939,1029,939 -7.9 1 6 dbSNP_96 49 1327,4089 157,1013,1538 yes coding-synonymous,coding-synonymous,coding-synonymous TRIM39,TRIM39-RPP21 NM_001199119.1,NM_021253.3,NM_172016.2 ,, 271,1637,2311 CC,CT,TT 24.5015,28.1932,25.8237 ,, 313/504,343/519,313/489 30309508 2179,6259 1511 2708 4219 SO:0001819 synonymous_variant 6p22.1 2011-02-21 ENSG00000248167 ENSG00000248167 202658 38845 other readthrough NA Standard NM_001199119.1 NM_001199119 NA Approved uc010jsa.2 OTTHUMG00000161144 ENST00000513556.1:c.675T>C chr6.hg19:g.30309508T>C NA hg19 0.02 32.702399 CCCxGAG COVERED NOVEL TRIM39-RPP21-001 NOVEL mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript protein_coding NA protein_coding OTTHUMT00000363942.1 4 33.099916 KEEP 0 0 0 110 3479 TT 1 1 0 + 43 60 1542 0 0 103.991024 678 60 25269 1003 ENST00000513556.1 0.059639 1 TRIM39-RPP21 202658 __UNKNOWN__ __UNKNOWN__ 6 30314567 30314567 __UNKNOWN__ Missense_Mutation SNP C C A rs974963|rs35287137 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:30314567C>A ENST00000513556.1 + 10 1228 c.1228C>A c.(1228-1230)Cag>Aag p.Q410K RPP21_ENST00000433076.2_Missense_Mutation_p.Q157K|RPP21_ENST00000436442.2_3'UTR|RPP21_ENST00000442966.2_Missense_Mutation_p.Q149K|RPP21_ENST00000428040.2_Missense_Mutation_p.Q172K NM_001199119.1 NP_001186048.1 TRIM39-RPP21 readthrough NA NA NA AATGCAGACTCAGGGTTCCAG 0.428 NA C||| 1866 0.372604 0.3018 0.4496 5008 , , NA 21475 0.505 NA 0.2435 False NA ,,, NA NA NA 2504 0.41 NA NA NA NA 0 C LYS/GLN,LYS/GLN,,LYS/GLN 839,2183 114,611,786 159 163 162 1492,469,,445 3.1 0 6 dbSNP_86 162 1309,4109 159,991,1559 yes missense,missense,utr-3,missense RPP21,TRIM39-RPP21 NM_001199119.1,NM_001199120.1,NM_001199121.1,NM_024839.2 53,53,,53 273,1602,2345 AA,AC,CC 24.1602,27.7631,25.4502 ,,, 498/504,157/163,,149/155 30314567 2148,6292 1511 2709 4220 SO:0001583 missense 6p22.1 2011-02-21 ENSG00000248167 ENSG00000248167 202658 38845 other readthrough NA Standard NM_001199119.1 NM_001199119 NA Approved uc010jsa.2 OTTHUMG00000161144 ENST00000513556.1:c.1228C>A chr6.hg19:g.30314567C>A ENSP00000424048:p.Gln410Lys NA hg19 0.02 22.485838 ACTxAGG COVERED 689 0.31547619047619047 141 0.2865853658536585 133 0.3674033149171271 256 0.44755244755244755 159 0.20976253298153033 C 9.914 1.210278 0.22289 0.277631 0.241602 ENSG00000204599;ENSG00000248167;ENSG00000241370;ENSG00000241370;ENSG00000241370 ENST00000412529;ENST00000513556;ENST00000433076;ENST00000442966;ENST00000428040 T;T;T;T 0.42131 0.98;1.52;1.52;1.52 4.94 3.1 0.35709 . 0.447252 0.19787 N 0.106087 T 0.14098 0.0341 N 0.19112 0.55 0.58432 P 1.0000000000287557E-6 B;B;B 0.10296 0.001;0.003;0.0 B;B;B 0.11329 0.006;0.004;0.0 T 0.06570 -1.0819 9 0.87932 D 0 -0.2296 11.6618 0.51352 0.0:0.6551:0.3449:0.0 rs974963;rs1060066;rs3173395;rs974963 412;149;172 F5H2V3;Q9H633;Q9H633-2 .;RPP21_HUMAN;. K 412;410;157;149;172 ENSP00000424048:Q410K;ENSP00000409799:Q157K;ENSP00000403833:Q149K;ENSP00000394320:Q172K ENSP00000394320:Q172K Q + 1 0 RPP21;TRIM39-RPP21;TRIM39 30422546 0.197000 0.23362 0.001000 0.08648 0.006000 0.05464 1.778000 0.38614 0.743000 0.32719 0.655000 0.94253 CAG NOVEL TRIM39-RPP21-001 NOVEL mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript protein_coding NA protein_coding OTTHUMT00000363942.1 2 45.439344 KEEP 0 0 0 151 5319 CC 1 1 0 + 14 60 504 0 0 29.428977 481 60 18603 815 ENST00000513556.1 0.028283 1 HLA-E 3133 __UNKNOWN__ __UNKNOWN__ 6 30458064 30458064 __UNKNOWN__ Missense_Mutation SNP G G A rs1264457 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:30458064G>A ENST00000376630.4 + 3 447 c.382G>A c.(382-384)Ggg>Agg p.G128R NM_005516.5 NP_005507.3 P13747 HLAE_HUMAN major histocompatibility complex, class I, E 128 Alpha-2. NA R -> G (in allele E*01:03 and allele E*01:04; dbSNP:rs1264457). antigen processing and presentation of endogenous peptide antigen via MHC class Ib (GO:0002476)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of natural killer cell mediated immunity (GO:0002717)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protection from natural killer cell mediated cytotoxicity (GO:0042270)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337) cell surface (GO:0009986)|early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886) MHC class I protein binding (GO:0042288)|peptide antigen binding (GO:0042605) breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)|ovary(3)|skin(1)|urinary_tract(1) 18 GGGGCCCGACGGGCGCTTCCT 0.687 NA G||| 2576 0.514377 0.5726 0.5331 5008 , , NA 12211 0.3433 NA 0.5676 False NA ,,, NA NA NA 2504 0.544 NA NA NA NA 0 GRCh37 CM076230 HLA-E M rs1264457 G ARG/GLY 1690,1328 478,734,297 56 63 61 382 0.8 0.9 6 dbSNP_87 61 3076,2342 903,1270,536 yes missense HLA-E NM_005516.5 125 1381,2004,833 AA,AG,GG 43.2263,44.0027,43.504 benign 128/359 30458064 4766,3670 1509 2709 4218 SO:0001583 missense M20022 CCDS34379.1 6p21.3 2013-01-11 ENSG00000204592 ENSG00000204592 3133 Histocompatibility complex, Immunoglobulin superfamily / C1-set domain containing 4962 protein-coding gene gene with protein product 143010 NA 3131426 Standard NM_005516 NM_005516 NA Approved uc003nqg.3 P13747 OTTHUMG00000031155 ENST00000376630.4:c.382G>A chr6.hg19:g.30458064G>A ENSP00000365817:p.Gly128Arg NA Q30169|Q9BT83|Q9GIY7|Q9GIY8 hg19 CCDS34379.1 0.02 4.403297 GACxGGC COVERED 1110 0.5082417582417582 278 0.5650406504065041 184 0.5082872928176796 208 0.36363636363636365 440 0.5804749340369393 . 12.92 2.083505 0.36758 0.559973 0.567737 ENSG00000204592 ENST00000376630 T 0.00016 9.11 1.66 0.764 0.18465 . 0.432766 0.16257 N 0.222447 T 0.00039 0.0001 . . . 0.41565 P 0.011349000000000053 P;P 0.39940 0.696;0.552 B;B 0.26770 0.073;0.051 T 0.00001 -1.2710 8 0.72032 D 0.01 . 4.3 0.10920 0.2177:0.0:0.7823:0.0 rs1264457;rs7767992;rs17195355 169;128 E7ENN9;Q6DU44 .;. R 128 ENSP00000365817:G128R ENSP00000365817:G128R G + 1 0 HLA-E 30566043 0.021000 0.18746 0.857000 0.33713 0.239000 0.25481 0.815000 0.27253 0.265000 0.21872 -0.374000 0.07098 GGG NOVEL HLA-E-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076282.2 2 30.628483 KEEP 0 0 0 102 3355 GG 1 1 0 + 10 60 355 0 0 24.47567 135 60 4426 321 ENST00000376630.4 0.068966 1 ATAT1 79969 __UNKNOWN__ __UNKNOWN__ 6 30612246 30612246 __UNKNOWN__ Intron SNP T T G rs373524826 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:30612246T>G ENST00000376485.4 + 11 998 ATAT1_ENST00000468713.1_Intron|ATAT1_ENST00000329992.8_3'UTR|ATAT1_ENST00000318999.7_3'UTR|ATAT1_ENST00000319027.5_3'UTR|ATAT1_ENST00000376483.4_3'UTR|ATAT1_ENST00000330083.5_Intron|ATAT1_ENST00000376478.2_Intron alpha tubulin acetyltransferase 1 NA NA cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 9 ATGCCCAGAGTATAGCTAGAT 0.547 NA T||| 7 0.00139776 0.0 0.0 5008 , , NA 18735 0.002 NA 0.0 False NA ,,, NA NA NA 2504 0.0051 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK023220 CCDS4683.2, CCDS54978.1, CCDS59002.1 6p21.32 2014-06-17 2010-10-11 2010-10-11 ENSG00000137343 ENSG00000137343 79969 2.3.1.108 21186 protein-coding gene gene with protein product alpha-tubulin N-acetyltransferase 615556 chromosome 6 open reading frame 134 C6orf134 NA 20829795 Standard NM_024909 NM_024909 NA Approved FLJ13158, Em:AB023049.7, MEC17 uc003nqv.3 Q5SQI0 OTTHUMG00000031219 ENST00000376485.4:c.969-1426T>G chr6.hg19:g.30612246T>G NA hg19 0.02 12.1899 GAGxATA COVERED NOVEL ATAT1-002 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000076449.2 1 28.880682 KEEP 0 0 0 96 2880 TT 1 1 0 + 13 60 491 0 0 32.48739 266 60 9265 475 ENST00000376485.4 0.046595 1 DHX16 8449 __UNKNOWN__ __UNKNOWN__ 6 30640609 30640609 __UNKNOWN__ Missense_Mutation SNP G G C rs141617781 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:30640609G>C ENST00000376442.3 - 1 205 c.10C>G c.(10-12)Ccg>Gcg p.P4A NM_001164239.1|NM_003587.4 NP_001157711.1|NP_003578.2 O60231 DHX16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 16 4 NA mRNA processing (GO:0006397)|RNA splicing (GO:0008380) nucleus (GO:0005634) ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724) kidney(2)|ovary(2) 4 AGACCCGCCGGCGTCGCCATG 0.711 NA G||| 55 0.0109824 0.0008 0.0 5008 , , NA 15051 0.005 NA 0.0 False NA ,,, NA NA NA 2504 0.0501 NA NA NA NA 0 27 28 27 NA NA 6 NA 30640609 1508 2705 4213 SO:0001583 missense AB001601 CCDS4685.1 6p21.3 2010-02-17 2003-06-13 2003-06-20 ENSG00000204560 ENSG00000204560 8449 DEAH-boxes 2739 protein-coding gene gene with protein product 603405 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16 DDX16 NA 9547260 Standard NM_003587 NM_003587 NA Approved DBP2, Prp2, PRPF2 uc003nqz.3 O60231 OTTHUMG00000031060 ENST00000376442.3:c.10C>G chr6.hg19:g.30640609G>C ENSP00000365625:p.Pro4Ala NA O60322|Q5JP45|Q969X7|Q96QC1 hg19 CCDS4685.1 0.02 20.320445 CCGxCGT COVERED . . . . . . . . . . G 18.31 3.594827 0.66219 . . ENSG00000204560 ENST00000376442 T 0.02421 4.3 4.43 3.53 0.40419 . 0.164578 0.49916 N 0.000126 T 0.01029 0.0034 N 0.25647 0.755 0.80722 D 1 B 0.02656 0.0 B 0.01281 0.0 T 0.49293 -0.8955 10 0.48119 T 0.1 . 10.7043 0.45946 0.0:0.3771:0.6229:0.0 . 4 O60231 DHX16_HUMAN A 4 ENSP00000365625:P4A ENSP00000365625:P4A P - 1 0 DHX16 30748588 0.977000 0.34250 1.000000 0.80357 0.930000 0.56654 0.590000 0.23954 1.035000 0.39972 0.455000 0.32223 CCG NOVEL DHX16-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076076.2 5 90.889924 KEEP 0 0 0 302 10759 GG 1 1 0 - 13 60 488 0 0 29.26887 451 60 16525 1011 ENST00000376442.3 0.028017 1 MDC1 9656 __UNKNOWN__ __UNKNOWN__ 6 30671344 30671344 __UNKNOWN__ Intron SNP T T C rs115442908 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:30671344T>C ENST00000376406.3 - 11 6210 MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Intron NM_014641.2 NP_055456.2 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 NA NA DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573) chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022) breast(2)|kidney(1)|ovary(1) 4 TGGTGGGAGTTTCAGAGCCCT 0.498 NA Other conserved DNA damage response genes T||| 80 0.0159744 0.0189 0.0014 5008 , , NA 18653 0.005 NA 0.0 False NA ,,, NA NA NA 2504 0.0501 NA NA NA NA 0 T 24,2998 1,22,1488 154 180 171 -0.4 0 6 dbSNP_132 171 1,5417 0,1,2708 no intron MDC1 NM_014641.2 1,23,4196 CC,CT,TT 0.0185,0.7942,0.2962 30671344 25,8415 1511 2709 4220 SO:0001627 intron_variant D79992 CCDS34384.1 6p21.3 2010-02-17 2009-06-12 ENSG00000137337 ENSG00000137337 9656 21163 protein-coding gene gene with protein product 607593 NA 10975465, 12607005 Standard NM_014641 NM_014641 NA Approved NFBD1, KIAA0170, Em:AB023051.5 uc003nrg.4 Q14676 OTTHUMG00000031075 ENST00000376406.3:c.5563-30A>G chr6.hg19:g.30671344T>C NA A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2 hg19 CCDS34384.1 0.02 8.294148 AGTxTCA COVERED NOVEL MDC1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000076103.1 4 21.663125 KEEP 0 0 0 72 2228 TT 1 1 0 - 7 60 256 0 0 15.131596 239 60 8540 387 ENST00000376406.3 0.028455 1 LINC00243 401247 __UNKNOWN__ __UNKNOWN__ 6 30782323 30782323 __UNKNOWN__ RNA SNP T T C rs2394414 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:30782323T>C ENST00000399196.1 - 0 371 long intergenic non-protein coding RNA 243 NA NA NA TTTCTCCTGCTACCCCTCCCC 0.408 NA C||| 450 0.0898562 0.0454 0.0447 5008 , , NA 19607 0.1637 NA 0.1282 False NA ,,, NA NA NA 2504 0.0665 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AK098012 6p21.33 2012-10-12 2011-08-11 2011-08-11 ENSG00000236006 ENSG00000214894 401247 Long non-coding RNAs 30956 non-coding RNA RNA, long non-coding chromosome 6 open reading frame 214 (putative), non-protein coding RNA 243 C6orf214, NCRNA00243 NA Standard XR_159458 NA Approved bQB230F21.2, FLJ40693, bQB10J12.2 OTTHUMG00000031539 ENST00000399196.1: chr6.hg19:g.30782323T>C NA hg19 0.02 21.645041 TGCxACC COVERED NOVEL LINC00243-001 KNOWN basic|exp_conf processed_transcript NA processed_transcript OTTHUMT00000076501.3 3 50.372381 KEEP 0 1 33 179 5418 TT 1 1 0 - 17 60 614 0 1 37.131881 495 60 17296 855 ENST00000399196.1 0.033203 1 DDR1 780 __UNKNOWN__ __UNKNOWN__ 6 30853686 30853686 __UNKNOWN__ Intron SNP G G A rs374008972 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:30853686G>A ENST00000508312.1 + 1 264 DDR1_ENST00000446312.1_Intron|DDR1_ENST00000454612.2_Intron|DDR1_ENST00000376569.3_Intron|DDR1_ENST00000376575.3_Intron|DDR1_ENST00000376568.3_Intron|DDR1_ENST00000324771.8_Intron|DDR1_ENST00000452441.1_Intron|DDR1_ENST00000418800.2_Intron|DDR1_ENST00000376570.4_Intron NM_001202523.1 NP_001189452.1 Q08345 DDR1_HUMAN discoidin domain receptor tyrosine kinase 1 NA NA branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|ear development (GO:0043583)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine autophosphorylation (GO:0038083)|protein autophosphorylation (GO:0046777)|regulation of cell growth (GO:0001558)|regulation of cell-matrix adhesion (GO:0001952)|regulation of extracellular matrix disassembly (GO:0010715)|smooth muscle cell migration (GO:0014909)|smooth muscle cell-matrix adhesion (GO:0061302)|wound healing, spreading of cells (GO:0044319) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) ATP binding (GO:0005524)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714) central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1) 29 Imatinib(DB00619) AAGGGCTTGAGGCAGGGTGGC 0.567 NA G||| 41 0.0081869 0.0 0.0 5008 , , NA 18311 0.004 NA 0.0 False NA ,,, NA NA NA 2504 0.0378 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X99031 CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1 6p21.33 2010-02-17 2008-01-23 ENSG00000204580 ENSG00000204580 780 2.7.10.1 CD molecules 2730 protein-coding gene gene with protein product 600408 discoidin domain receptor family, member 1 NTRK4, PTK3A, NEP, CAK, EDDR1 NA 7789998 Standard NM_013994 NM_001954 NA Approved RTK6, CD167 uc003nrv.3 Q08345 OTTHUMG00000031236 ENST00000508312.1:c.12+678G>A chr6.hg19:g.30853686G>A NA B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2 hg19 CCDS56411.1 0.02 5.799021 TGAxGCA COVERED NOVEL DDR1-020 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000369045.2 1 20.766437 KEEP 0 0 0 69 2367 GG 1 1 0 + 7 60 252 0 0 15.529596 183 60 6595 278 ENST00000508312.1 0.036842 1 DDR1 780 __UNKNOWN__ __UNKNOWN__ 6 30862423 30862423 __UNKNOWN__ Silent SNP C C T rs1264319 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:30862423C>T ENST00000508312.1 + 11 1794 c.1542C>T c.(1540-1542)tcC>tcT p.S514S DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000454612.2_Silent_p.S496S|DDR1_ENST00000376569.3_Silent_p.S496S|DDR1_ENST00000376575.3_Silent_p.S496S|DDR1_ENST00000376568.3_Silent_p.S496S|DDR1_ENST00000361741.4_Missense_Mutation_p.P200L|DDR1_ENST00000324771.8_Silent_p.S496S|DDR1_ENST00000452441.1_Silent_p.S496S|DDR1_ENST00000418800.2_Silent_p.S496S|DDR1_ENST00000376567.2_Silent_p.S496S|DDR1_ENST00000513240.1_Silent_p.S496S|DDR1_ENST00000376570.4_Silent_p.S496S NM_001202523.1 NP_001189452.1 Q08345 DDR1_HUMAN discoidin domain receptor tyrosine kinase 1 496 Gly/Pro-rich. NA branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|ear development (GO:0043583)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine autophosphorylation (GO:0038083)|protein autophosphorylation (GO:0046777)|regulation of cell growth (GO:0001558)|regulation of cell-matrix adhesion (GO:0001952)|regulation of extracellular matrix disassembly (GO:0010715)|smooth muscle cell migration (GO:0014909)|smooth muscle cell-matrix adhesion (GO:0061302)|wound healing, spreading of cells (GO:0044319) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) ATP binding (GO:0005524)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714) central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1) 29 Imatinib(DB00619) CGCCCCACTCCGCTCCCTGTG 0.582 NA C||| 642 0.128195 0.177 0.0951 5008 , , NA 19738 0.0585 NA 0.162 False NA ,,, NA NA NA 2504 0.1227 NA NA NA NA 0 C ,LEU/PRO,,,, 858,3548 335.7+/-304.0 90,678,1435 75 75 75 1488,1406,1542,1488,1488,1488 2.7 1 6 dbSNP_87 75 1699,6901 311.0+/-310.2 162,1375,2763 yes coding-synonymous,missense,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous DDR1 NM_001202521.1,NM_001202522.1,NM_001202523.1,NM_001954.4,NM_013993.2,NM_013994.2 ,98,,,, 252,2053,4198 TT,TC,CC 19.7558,19.4734,19.6602 ,,,,, 496/509,469/768,514/895,496/877,496/914,496/920 30862423 2557,10449 2203 4300 6503 SO:0001819 synonymous_variant X99031 CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1 6p21.33 2010-02-17 2008-01-23 ENSG00000204580 ENSG00000204580 780 2.7.10.1 CD molecules 2730 protein-coding gene gene with protein product 600408 discoidin domain receptor family, member 1 NTRK4, PTK3A, NEP, CAK, EDDR1 NA 7789998 Standard NM_013994 NM_001954 NA Approved RTK6, CD167 uc003nrv.3 Q08345 OTTHUMG00000031236 ENST00000508312.1:c.1542C>T chr6.hg19:g.30862423C>T NA B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2 hg19 CCDS56411.1 0.02 9.632339 CTCxGCT COVERED 341|341 0.15613553113553114|0.15613553113553114 127|127 0.258130081300813|0.258130081300813 44|44 0.12154696132596685|0.12154696132596685 39|39 0.06818181818181818|0.06818181818181818 131|131 0.17282321899736147|0.17282321899736147 C|C 7.986|7.986 0.752226|0.752226 0.15778|0.15778 0.194734|0.194734 0.197558|0.197558 ENSG00000204580|ENSG00000204580 ENST00000417521;ENST00000361741;ENST00000451954|ENST00000514434 T;T|. 0.79454|. -1.19;-1.27|. 5.24|5.24 2.73|2.73 0.32206|0.32206 .|. .|. .|. .|. .|. T|T 0.26268|0.26268 0.0641|0.0641 .|. .|. .|. 0.26362|0.26362 P|P 0.9770315|0.9770315 B|. 0.02656|. 0.0|. B|. 0.01281|. 0.0|. T|T 0.08207|0.08207 -1.0733|-1.0733 7|3 0.20519|. T|. 0.43|. .|. 7.4808|7.4808 0.27404|0.27404 0.0:0.1817:0.0:0.8183|0.0:0.1817:0.0:0.8183 rs1264319;rs1264319|rs1264319;rs1264319 265|. A2ABM8|. .|. L|C 265;200;152|25 ENSP00000398682:P265L;ENSP00000354844:P200L|. ENSP00000354844:P200L|. P|R +|+ 2|1 0|0 DDR1|DDR1 30970402|30970402 0.976000|0.976000 0.34144|0.34144 1.000000|1.000000 0.80357|0.80357 0.986000|0.986000 0.74619|0.74619 0.405000|0.405000 0.21015|0.21015 0.837000|0.837000 0.34925|0.34925 -0.455000|-0.455000 0.05494|0.05494 CCG|CGC NOVEL DDR1-020 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000369045.2 1 25.578057 KEEP 0 0 0 85 2877 CC 1 1 0 + 9 60 349 0 0 22.903352 210 60 7319 400 ENST00000508312.1 0.041096 1 DDR1 780 __UNKNOWN__ __UNKNOWN__ 6 30862992 30862992 __UNKNOWN__ Intron SNP C C T rs78791827 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:30862992C>T ENST00000508312.1 + 11 1819 DDR1_ENST00000446312.1_Intron|DDR1_ENST00000454612.2_Intron|DDR1_ENST00000376569.3_Intron|DDR1_ENST00000376575.3_Intron|DDR1_ENST00000376568.3_Intron|DDR1_ENST00000361741.4_Intron|DDR1_ENST00000324771.8_Intron|DDR1_ENST00000452441.1_Intron|DDR1_ENST00000418800.2_Intron|DDR1_ENST00000376567.2_Intron|DDR1_ENST00000513240.1_Intron|DDR1_ENST00000376570.4_Intron NM_001202523.1 NP_001189452.1 Q08345 DDR1_HUMAN discoidin domain receptor tyrosine kinase 1 NA NA branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|ear development (GO:0043583)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine autophosphorylation (GO:0038083)|protein autophosphorylation (GO:0046777)|regulation of cell growth (GO:0001558)|regulation of cell-matrix adhesion (GO:0001952)|regulation of extracellular matrix disassembly (GO:0010715)|smooth muscle cell migration (GO:0014909)|smooth muscle cell-matrix adhesion (GO:0061302)|wound healing, spreading of cells (GO:0044319) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) ATP binding (GO:0005524)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714) central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1) 29 Imatinib(DB00619) tctattcatacgtcccatctg 0.433 NA C||| 249 0.0497204 0.0923 0.0259 5008 , , NA 23662 0.0208 NA 0.0219 False NA ,,, NA NA NA 2504 0.0675 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X99031 CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1 6p21.33 2010-02-17 2008-01-23 ENSG00000204580 ENSG00000204580 780 2.7.10.1 CD molecules 2730 protein-coding gene gene with protein product 600408 discoidin domain receptor family, member 1 NTRK4, PTK3A, NEP, CAK, EDDR1 NA 7789998 Standard NM_013994 NM_001954 NA Approved RTK6, CD167 uc003nrv.3 Q08345 OTTHUMG00000031236 ENST00000508312.1:c.1567+544C>T chr6.hg19:g.30862992C>T NA B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2 hg19 CCDS56411.1 0.02 5.850526 ATAxGTC COVERED NOVEL DDR1-020 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000369045.2 2 2.576177 KEEP 0 2 58 29 996 CC 0.999997 0.999997 0 + 6 60 221 0 0 13.499421 177 60 6498 219 ENST00000508312.1 0.032787 1 VARS2 57176 __UNKNOWN__ __UNKNOWN__ 6 30893941 30893941 __UNKNOWN__ Missense_Mutation SNP G G A rs4678 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:30893941G>A ENST00000321897.5 + 29 3778 c.3146G>A c.(3145-3147)cGg>cAg p.R1049Q VARS2_ENST00000476162.1_3'UTR|VARS2_ENST00000416670.2_Missense_Mutation_p.R1049Q|VARS2_ENST00000541562.1_Missense_Mutation_p.R1079Q|VARS2_ENST00000542001.1_Missense_Mutation_p.R909Q Q5ST30 SYVM_HUMAN valyl-tRNA synthetase 2, mitochondrial 1049 NA R -> Q (in dbSNP:rs4678). {ECO:0000269|PubMed:11572484, ECO:0000269|PubMed:14574404, ECO:0000269|PubMed:15489334}. gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438) mitochondrion (GO:0005739) aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832) central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1) 46 TCTCACCTCCGGCAGCTGATG 0.557 NA G||| 453 0.0904553 0.0968 0.0663 5008 , , NA 19166 0.0258 NA 0.1551 False NA ,,, NA NA NA 2504 0.0992 NA NA NA NA 0 G GLN/ARG,GLN/ARG,GLN/ARG 367,2653 15,337,1158 53 57 56 2726,3236,3146 -8.5 0.1 6 dbSNP_52 56 1047,4367 94,859,1754 yes missense,missense,missense VARS2 NM_001167733.1,NM_001167734.1,NM_020442.4 43,43,43 109,1196,2912 AA,AG,GG 19.3388,12.1523,16.7655 benign,benign,benign 909/924,1079/1094,1049/1064 30893941 1414,7020 1510 2707 4217 SO:0001583 missense AB067472 CCDS34387.1, CCDS54980.1 6p21.33 2012-10-26 2012-10-26 2007-02-23 ENSG00000137411 ENSG00000137411 57176 6.1.1.9 Aminoacyl tRNA synthetases / Class I 21642 protein-coding gene gene with protein product valine tRNA ligase 2, mitochondrial 612802 valyl-tRNA synthetase 2-like, valyl-tRNA synthetase like, valyl-tRNA synthetase 2, mitochondrial (putative) VARS2L, VARSL NA 1898367, 11572484, 18400783 Standard NM_020442 NM_001167734 NA Approved DKFZP434L1435, KIAA1885, G7a uc011dmz.2 Q5ST30 OTTHUMG00000031263 ENST00000321897.5:c.3146G>A chr6.hg19:g.30893941G>A ENSP00000316092:p.Arg1049Gln NA A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7 hg19 CCDS34387.1 0.02 21.795021 TCCxGCA COVERED 246 0.11263736263736264 71 0.1443089430894309 27 0.07458563535911603 20 0.03496503496503497 128 0.16886543535620052 G 4.681 0.126566 0.08931 0.121523 0.193388 ENSG00000137411 ENST00000321897;ENST00000416670;ENST00000542001;ENST00000541562 T;T;T;T 0.31247 1.5;1.5;1.5;1.5 5.8 -8.54 0.00912 . 1.356270 0.04712 N 0.417762 T 0.02929 0.0087 N 0.11845 0.185 0.80722 P 0.0 B;B;B;B 0.22983 0.078;0.0;0.0;0.0 B;B;B;B 0.16722 0.016;0.0;0.001;0.0 T 0.14699 -1.0463 9 0.02654 T 1 -4.8705 8.5559 0.33480 0.3693:0.0:0.5217:0.109 rs4678;rs1043490;rs3173376;rs6929532;rs16898111;rs17189642;rs52796175;rs56648004;rs60218550;rs4678 487;1047;1079;1049 Q5ST30-2;B7ZL25;F5GXJ0;Q5ST30 .;.;.;SYVM_HUMAN Q 1049;1049;909;1079 ENSP00000316092:R1049Q;ENSP00000394802:R1049Q;ENSP00000438200:R909Q;ENSP00000441000:R1079Q ENSP00000316092:R1049Q R + 2 0 VARS2 31001920 0.057000 0.20700 0.058000 0.19502 0.721000 0.41392 -1.020000 0.03618 -1.624000 0.01556 -0.150000 0.13652 CGG NOVEL VARS2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076566.2 1 14.475502 KEEP 0 1 34 60 2046 GG 1 1 0 + 13 60 493 0 0 28.963142 521 60 17846 701 ENST00000321897.5 0.024345 1 DPCR1 135656 __UNKNOWN__ __UNKNOWN__ 6 30919701 30919701 __UNKNOWN__ Silent SNP T T C rs2517449 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:30919701T>C ENST00000462446.1 + 2 3488 c.3460T>C c.(3460-3462)Ttg>Ctg p.L1154L HCG21_ENST00000419481.1_RNA|DPCR1_ENST00000304311.2_5'UTR Q3MIW9 DPCR1_HUMAN diffuse panbronchiolitis critical region 1 311 NA integral component of membrane (GO:0016021) endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1) 10 AAGGACCACATTGGCCCATGA 0.473 NA T||| 1177 0.235024 0.0983 0.2133 5008 , , NA 21802 0.2688 NA 0.3579 False NA ,,, NA NA NA 2504 0.274 NA NA NA NA 0 T 623,3783 268.9+/-268.7 42,539,1622 125 126 126 3460 -2.2 0 6 dbSNP_100 126 3225,5375 487.8+/-372.2 588,2049,1663 yes coding-synonymous DPCR1 NM_080870.3 630,2588,3285 CC,CT,TT 37.5,14.1398,29.5863 1154/1394 30919701 3848,9158 2203 4300 6503 SO:0001819 synonymous_variant AB064272 CCDS4692.1, CCDS4692.2 6p21.32 2008-02-05 ENSG00000168631 ENSG00000168631 135656 21666 protein-coding gene gene with protein product 613928 NA 12185533, 10677310 Standard NM_080870 NM_080870 NA Approved PBLT, bCX105N19.6 uc003nsg.2 Q3MIW9 OTTHUMG00000031104 ENST00000462446.1:c.3460T>C chr6.hg19:g.30919701T>C NA C9IZC0|Q658M7|Q8WYN2 hg19 CCDS4692.2 0.02 10.659371 ACAxTGG COVERED NOVEL DPCR1-001 NOVEL not_organism_supported|basic|CCDS protein_coding NA protein_coding OTTHUMT00000076173.3 1 8.180753 KEEP 0 2 71 52 1565 TT 1 1 0 + 12 60 446 0 0 28.767957 271 60 9639 394 ENST00000462446.1 0.042403 1 MUC21 394263 __UNKNOWN__ __UNKNOWN__ 6 30954245 30954245 __UNKNOWN__ 5'UTR SNP T T C rs1634730 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:30954245T>C ENST00000486149.2 + 0 676 MUC21_ENST00000376296.3_Missense_Mutation_p.V98A Q5SSG8 MUC21_HUMAN mucin 21, cell surface associated NA NA cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 TTCAGCACAGTGTCCAGTGGG 0.572 NA C||| 3559 0.710663 0.8585 0.7363 5008 , , NA 22713 0.5933 NA 0.7247 False NA ,,, NA NA NA 2504 0.5992 NA NA NA NA 0 C ALA/VAL 3601,805 323.7+/-298.2 1479,643,81 217 188 198 293 -2 0 6 dbSNP_89 198 6186,2414 399.2+/-346.4 2229,1728,343 yes missense MUC21 NM_001010909.2 64 3708,2371,424 CC,CT,TT 28.0698,18.2705,24.7501 benign 98/567 30954245 9787,3219 2203 4300 6503 SO:0001623 5_prime_UTR_variant AK056612 CCDS34388.1 6p21.33 2008-05-14 2008-05-14 2008-05-14 ENSG00000204544 ENSG00000204544 394263 Mucins 21661 protein-coding gene gene with protein product epiglycanin chromosome 6 open reading frame 205 C6orf205 NA 17977904 Standard NM_001010909 NM_001010909 NA Approved bCX31G15.2 uc003nsh.2 Q5SSG8 OTTHUMG00000031216 ENST00000486149.2:c.-1070T>C chr6.hg19:g.30954245T>C NA B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5 hg19 0.02 14.80524 CAGxGTC COVERED 1574 0.7206959706959707 413 0.8394308943089431 272 0.7513812154696132 339 0.5926573426573427 550 0.7255936675461742 C 0.043 -1.275364 0.01410 0.817295 0.719302 ENSG00000204544 ENST00000450707;ENST00000376296 T 0.02916 4.11 2.37 -1.98 0.07480 . . . . . T 0.00468 0.0015 N 0.08118 0 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.41610 -0.9499 7 . . . 8.6127 8.0325 0.30474 0.0:0.2738:0.0:0.7262 rs1634730;rs16898273;rs58720316;rs1634730 98 Q5SSG8 MUC21_HUMAN A 98 ENSP00000365473:V98A . V + 2 0 MUC21 31062224 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -2.013000 0.01450 -0.827000 0.04278 -1.164000 0.01763 GTG NOVEL MUC21-002 PUTATIVE basic|appris_principal|exp_conf protein_coding NA protein_coding OTTHUMT00000128457.3 0 6.888871 KEEP 0 2 72 48 1470 TT 1 1 0 + 15 60 476 0 0 27.668387 374 60 13356 533 ENST00000486149.2 0.03856 1 MUC21 394263 __UNKNOWN__ __UNKNOWN__ 6 30954873 30954873 __UNKNOWN__ 5'UTR SNP G G A rs1625781 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:30954873G>A ENST00000486149.2 + 0 1304 MUC21_ENST00000376296.3_Silent_p.T307T Q5SSG8 MUC21_HUMAN mucin 21, cell surface associated NA NA cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 AGTCCAGTACGACCTCCAGTG 0.597 NA g||| 707 0.141174 0.1059 0.2594 5008 , , NA 21191 0.0427 NA 0.2386 False NA ,,, NA NA NA 2504 0.1063 NA NA NA NA 0 G 688,3718 289.2+/-280.3 41,606,1556 166 160 162 921 -8.6 0 6 dbSNP_89 162 2411,6189 400.9+/-346.9 330,1751,2219 no coding-synonymous MUC21 NM_001010909.2 371,2357,3775 AA,AG,GG 28.0349,15.6151,23.8275 307/567 30954873 3099,9907 2203 4300 6503 SO:0001623 5_prime_UTR_variant AK056612 CCDS34388.1 6p21.33 2008-05-14 2008-05-14 2008-05-14 ENSG00000204544 ENSG00000204544 394263 Mucins 21661 protein-coding gene gene with protein product epiglycanin chromosome 6 open reading frame 205 C6orf205 NA 17977904 Standard NM_001010909 NM_001010909 NA Approved bCX31G15.2 uc003nsh.2 Q5SSG8 OTTHUMG00000031216 ENST00000486149.2:c.-442G>A chr6.hg19:g.30954873G>A NA B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5 hg19 0.02 10.04806 TACxACC COVERED NOVEL MUC21-002 PUTATIVE basic|appris_principal|exp_conf protein_coding NA protein_coding OTTHUMT00000128457.3 3 17.754462 KEEP 0 0 0 59 1924 GG 1 1 0 + 12 60 429 0 0 26.852369 283 60 9187 432 ENST00000486149.2 0.040678 1 MUC22 100507679 __UNKNOWN__ __UNKNOWN__ 6 30993499 30993499 __UNKNOWN__ Silent SNP C C T rs2517554 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:30993499C>T ENST00000561890.1 + 2 524 c.291C>T c.(289-291)tcC>tcT p.S97S NM_001198815.1 NP_001185744.1 E2RYF6 MUC22_HUMAN mucin 22 97 Thr-rich. NA integral component of membrane (GO:0016021) breast(1) 1 ACACGGCCTCCACCACAGACT 0.562 NA C||| 2444 0.488019 0.3487 0.4942 5008 , , NA 19328 0.5575 NA 0.5606 False NA ,,, NA NA NA 2504 0.5256 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001819 synonymous_variant CCDS59003.1 6p21.33 2012-10-03 ENSG00000261272 ENSG00000261272 100507679 Mucins 39755 protein-coding gene gene with protein product panbronchiolitis related mucin-like 1 613917 NA 20981447 Standard NM_001198815 NM_001198815 NA Approved PBMUCL1 uc021yug.1 E2RYF6 OTTHUMG00000133673 ENST00000561890.1:c.291C>T chr6.hg19:g.30993499C>T NA H3BQR8 hg19 CCDS59003.1 0.02 25.45933 CTCxACC COVERED NOVEL MUC22-001 NOVEL basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000257856.2 7 21.068854 KEEP 0 0 0 70 2509 CC 1 1 0 + 42 60 1510 0 0 105.585914 539 60 20063 815 ENST00000561890.1 0.072289 1 MUC22 100507679 __UNKNOWN__ __UNKNOWN__ 6 30993808 30993808 __UNKNOWN__ Silent SNP T T C rs9501039 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:30993808T>C ENST00000561890.1 + 2 833 c.600T>C c.(598-600)acT>acC p.T200T NM_001198815.1 NP_001185744.1 E2RYF6 MUC22_HUMAN mucin 22 200 124 X 10 AA approximate repeats.|Thr-rich. NA integral component of membrane (GO:0016021) breast(1) 1 CCACCTCCACTGCAAGCTCTG 0.562 NA T||| 239 0.0477236 0.0545 0.0346 5008 , , NA 19205 0.0258 NA 0.0308 False NA ,,, NA NA NA 2504 0.0879 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001819 synonymous_variant CCDS59003.1 6p21.33 2012-10-03 ENSG00000261272 ENSG00000261272 100507679 Mucins 39755 protein-coding gene gene with protein product panbronchiolitis related mucin-like 1 613917 NA 20981447 Standard NM_001198815 NM_001198815 NA Approved PBMUCL1 uc021yug.1 E2RYF6 OTTHUMG00000133673 ENST00000561890.1:c.600T>C chr6.hg19:g.30993808T>C NA H3BQR8 hg19 CCDS59003.1 0.02 30.439144 CACxGCA COVERED NOVEL MUC22-001 NOVEL basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000257856.2 3 29.489808 KEEP 0 0 0 98 3097 TT 1 1 0 + 28 60 979 0 0 59.896582 695 60 25499 994 ENST00000561890.1 0.038728 1 MUC22 100507679 __UNKNOWN__ __UNKNOWN__ 6 30994259 30994259 __UNKNOWN__ Missense_Mutation SNP A A T rs371288197 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:30994259A>T ENST00000561890.1 + 2 1284 c.1051A>T c.(1051-1053)Act>Tct p.T351S NM_001198815.1 NP_001185744.1 E2RYF6 MUC22_HUMAN mucin 22 351 124 X 10 AA approximate repeats.|Thr-rich. NA integral component of membrane (GO:0016021) breast(1) 1 CACCGTCTCCACTGCAGGCTC 0.567 NA a||| 77 0.0153754 0.0023 0.0058 5008 , , NA 17425 0.006 NA 0.0 False NA ,,, NA NA NA 2504 0.0654 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense CCDS59003.1 6p21.33 2012-10-03 ENSG00000261272 ENSG00000261272 100507679 Mucins 39755 protein-coding gene gene with protein product panbronchiolitis related mucin-like 1 613917 NA 20981447 Standard NM_001198815 NM_001198815 NA Approved PBMUCL1 uc021yug.1 E2RYF6 OTTHUMG00000133673 ENST00000561890.1:c.1051A>T chr6.hg19:g.30994259A>T ENSP00000455906:p.Thr351Ser NA H3BQR8 hg19 CCDS59003.1 0.02 24.073717 TCCxCTG COVERED NOVEL MUC22-001 NOVEL basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000257856.2 6 18.955966 KEEP 0 0 0 63 1938 AA 1 1 0 + 17 60 603 0 0 34.407173 620 60 21904 859 ENST00000561890.1 0.026688 1 MUC22 100507679 __UNKNOWN__ __UNKNOWN__ 6 30995178 30995178 __UNKNOWN__ Missense_Mutation SNP C C T rs111413526 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:30995178C>T ENST00000561890.1 + 2 2203 c.1970C>T c.(1969-1971)aCa>aTa p.T657I NM_001198815.1 NP_001185744.1 E2RYF6 MUC22_HUMAN mucin 22 657 124 X 10 AA approximate repeats.|Thr-rich. NA integral component of membrane (GO:0016021) breast(1) 1 GAGACCACTACAGTTTCTATC 0.537 NA c||| 461 0.0920527 0.0318 0.17 5008 , , NA 20418 0.0476 NA 0.1481 False NA ,,, NA NA NA 2504 0.1063 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense CCDS59003.1 6p21.33 2012-10-03 ENSG00000261272 ENSG00000261272 100507679 Mucins 39755 protein-coding gene gene with protein product panbronchiolitis related mucin-like 1 613917 NA 20981447 Standard NM_001198815 NM_001198815 NA Approved PBMUCL1 uc021yug.1 E2RYF6 OTTHUMG00000133673 ENST00000561890.1:c.1970C>T chr6.hg19:g.30995178C>T ENSP00000455906:p.Thr657Ile NA H3BQR8 hg19 CCDS59003.1 0.02 30.578633 CTAxAGT COVERED NOVEL MUC22-001 NOVEL basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000257856.2 12 19.563816 KEEP 0 0 0 65 2336 CC 1 1 0 + 19 60 696 0 0 40.573028 701 60 26637 963 ENST00000561890.1 0.026389 1 MUC22 100507679 __UNKNOWN__ __UNKNOWN__ 6 30995187 30995187 __UNKNOWN__ Missense_Mutation SNP T T C rs62399443 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:30995187T>C ENST00000561890.1 + 2 2212 c.1979T>C c.(1978-1980)aTc>aCc p.I660T NM_001198815.1 NP_001185744.1 E2RYF6 MUC22_HUMAN mucin 22 660 124 X 10 AA approximate repeats.|Thr-rich. NA integral component of membrane (GO:0016021) breast(1) 1 ACAGTTTCTATCACAGACTCA 0.532 NA t||| 461 0.0920527 0.0318 0.17 5008 , , NA 20359 0.0476 NA 0.1481 False NA ,,, NA NA NA 2504 0.1063 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense CCDS59003.1 6p21.33 2012-10-03 ENSG00000261272 ENSG00000261272 100507679 Mucins 39755 protein-coding gene gene with protein product panbronchiolitis related mucin-like 1 613917 NA 20981447 Standard NM_001198815 NM_001198815 NA Approved PBMUCL1 uc021yug.1 E2RYF6 OTTHUMG00000133673 ENST00000561890.1:c.1979T>C chr6.hg19:g.30995187T>C ENSP00000455906:p.Ile660Thr NA H3BQR8 hg19 CCDS59003.1 0.02 31.583151 CTAxCAC COVERED NOVEL MUC22-001 NOVEL basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000257856.2 10 19.258805 KEEP 0 0 0 64 2067 TT 1 1 0 + 22 60 797 0 0 47.769603 712 60 25853 977 ENST00000561890.1 0.029973 1 MUC22 100507679 __UNKNOWN__ __UNKNOWN__ 6 30995532 30995532 __UNKNOWN__ Missense_Mutation SNP T T C rs62401665 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:30995532T>C ENST00000561890.1 + 2 2557 c.2324T>C c.(2323-2325)aTg>aCg p.M775T NM_001198815.1 NP_001185744.1 E2RYF6 MUC22_HUMAN mucin 22 775 124 X 10 AA approximate repeats.|Thr-rich. NA integral component of membrane (GO:0016021) breast(1) 1 GGCTCTGAGATGACCACAGTC 0.547 NA t||| 461 0.0920527 0.0318 0.17 5008 , , NA 20972 0.0476 NA 0.1481 False NA ,,, NA NA NA 2504 0.1063 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense CCDS59003.1 6p21.33 2012-10-03 ENSG00000261272 ENSG00000261272 100507679 Mucins 39755 protein-coding gene gene with protein product panbronchiolitis related mucin-like 1 613917 NA 20981447 Standard NM_001198815 NM_001198815 NA Approved PBMUCL1 uc021yug.1 E2RYF6 OTTHUMG00000133673 ENST00000561890.1:c.2324T>C chr6.hg19:g.30995532T>C ENSP00000455906:p.Met775Thr NA H3BQR8 hg19 CCDS59003.1 0.02 23.950767 AGAxGAC COVERED NOVEL MUC22-001 NOVEL basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000257856.2 2 23.1681 KEEP 0 0 0 77 2398 TT 1 1 0 + 20 60 676 0 0 37.95075 664 60 24206 898 ENST00000561890.1 0.02924 1 MUC22 100507679 __UNKNOWN__ __UNKNOWN__ 6 30996132 30996132 __UNKNOWN__ Missense_Mutation SNP C C T rs564732150 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:30996132C>T ENST00000561890.1 + 2 3157 c.2924C>T c.(2923-2925)aCt>aTt p.T975I NM_001198815.1 NP_001185744.1 E2RYF6 MUC22_HUMAN mucin 22 975 124 X 10 AA approximate repeats.|Thr-rich. NA integral component of membrane (GO:0016021) breast(1) 1 TCTGAGATTACTACAGCCTCC 0.542 NA C||| 462 0.0922524 0.0318 0.17 5008 , , NA 18264 0.0486 NA 0.1481 False NA ,,, NA NA NA 2504 0.1063 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense CCDS59003.1 6p21.33 2012-10-03 ENSG00000261272 ENSG00000261272 100507679 Mucins 39755 protein-coding gene gene with protein product panbronchiolitis related mucin-like 1 613917 NA 20981447 Standard NM_001198815 NM_001198815 NA Approved PBMUCL1 uc021yug.1 E2RYF6 OTTHUMG00000133673 ENST00000561890.1:c.2924C>T chr6.hg19:g.30996132C>T ENSP00000455906:p.Thr975Ile NA H3BQR8 hg19 CCDS59003.1 0.02 29.800581 TTAxTAC COVERED NOVEL MUC22-001 NOVEL basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000257856.2 7 24.980525 KEEP 0 0 0 83 2913 CC 1 1 0 + 23 60 830 0 0 49.756915 699 60 26044 975 ENST00000561890.1 0.031856 1 MUC22 100507679 __UNKNOWN__ __UNKNOWN__ 6 30996490 30996490 __UNKNOWN__ Silent SNP C C T rs550190545|rs568508535|rs566486755|rs57686320 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:30996490C>T ENST00000561890.1 + 2 3515 c.3282C>T c.(3280-3282)acC>acT p.T1094T NM_001198815.1 NP_001185744.1 E2RYF6 MUC22_HUMAN mucin 22 1094 124 X 10 AA approximate repeats.|Thr-rich. NA integral component of membrane (GO:0016021) breast(1) 1 GCTCTGAGACCACCACCACCA 0.562 NA C||| 461 0.0920527 0.0318 0.17 5008 , , NA 18597 0.0476 NA 0.1481 False NA ,,, NA NA NA 2504 0.1063 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001819 synonymous_variant CCDS59003.1 6p21.33 2012-10-03 ENSG00000261272 ENSG00000261272 100507679 Mucins 39755 protein-coding gene gene with protein product panbronchiolitis related mucin-like 1 613917 NA 20981447 Standard NM_001198815 NM_001198815 NA Approved PBMUCL1 uc021yug.1 E2RYF6 OTTHUMG00000133673 ENST00000561890.1:c.3282C>T chr6.hg19:g.30996490C>T NA H3BQR8 hg19 CCDS59003.1 0.02 24.01852 GACxACC COVERED NOVEL MUC22-001 NOVEL basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000257856.2 8 24.078155 KEEP 0 0 0 80 2811 CC 1 1 0 + 19 60 662 2 0 39.432643 533 60 19308 768 ENST00000561890.1 0.03442 1 MUC22 100507679 __UNKNOWN__ __UNKNOWN__ 6 30996509 30996509 __UNKNOWN__ Missense_Mutation SNP G G A rs539387173 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:30996509G>A ENST00000561890.1 + 2 3534 c.3301G>A c.(3301-3303)Gaa>Aaa p.E1101K NM_001198815.1 NP_001185744.1 E2RYF6 MUC22_HUMAN mucin 22 1101 124 X 10 AA approximate repeats.|Thr-rich. NA integral component of membrane (GO:0016021) breast(1) 1 CACCTCTACTGAAGGCTCTGA 0.562 NA G||| 455 0.0908546 0.031 0.1686 5008 , , NA 18717 0.0476 NA 0.1441 False NA ,,, NA NA NA 2504 0.1063 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense CCDS59003.1 6p21.33 2012-10-03 ENSG00000261272 ENSG00000261272 100507679 Mucins 39755 protein-coding gene gene with protein product panbronchiolitis related mucin-like 1 613917 NA 20981447 Standard NM_001198815 NM_001198815 NA Approved PBMUCL1 uc021yug.1 E2RYF6 OTTHUMG00000133673 ENST00000561890.1:c.3301G>A chr6.hg19:g.30996509G>A ENSP00000455906:p.Glu1101Lys NA H3BQR8 hg19 CCDS59003.1 0.02 21.734664 ACTxAAG COVERED NOVEL MUC22-001 NOVEL basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000257856.2 5 22.874695 KEEP 0 0 0 76 2694 GG 1 1 0 + 18 60 638 0 0 37.833838 543 60 20393 763 ENST00000561890.1 0.032086 1 MUC22 100507679 __UNKNOWN__ __UNKNOWN__ 6 30997078 30997078 __UNKNOWN__ Silent SNP T T C rs574909690 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:30997078T>C ENST00000561890.1 + 2 4103 c.3870T>C c.(3868-3870)acT>acC p.T1290T NM_001198815.1 NP_001185744.1 E2RYF6 MUC22_HUMAN mucin 22 1290 124 X 10 AA approximate repeats.|Thr-rich. NA integral component of membrane (GO:0016021) breast(1) 1 CAGTCACTACTGCAGGTTCTG 0.537 NA t||| 507 0.101238 0.0446 0.1758 5008 , , NA 22827 0.0655 NA 0.1551 False NA ,,, NA NA NA 2504 0.1063 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001819 synonymous_variant CCDS59003.1 6p21.33 2012-10-03 ENSG00000261272 ENSG00000261272 100507679 Mucins 39755 protein-coding gene gene with protein product panbronchiolitis related mucin-like 1 613917 NA 20981447 Standard NM_001198815 NM_001198815 NA Approved PBMUCL1 uc021yug.1 E2RYF6 OTTHUMG00000133673 ENST00000561890.1:c.3870T>C chr6.hg19:g.30997078T>C NA H3BQR8 hg19 CCDS59003.1 0.02 26.475285 TACxGCA COVERED NOVEL MUC22-001 NOVEL basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000257856.2 6 19.861279 KEEP 0 0 0 66 2110 TT 1 1 0 + 26 60 869 0 0 50.615963 723 60 26703 971 ENST00000561890.1 0.034713 1 MUC22 100507679 __UNKNOWN__ __UNKNOWN__ 6 30997334 30997334 __UNKNOWN__ Missense_Mutation SNP A A G rs539654837 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:30997334A>G ENST00000561890.1 + 2 4359 c.4126A>G c.(4126-4128)Act>Gct p.T1376A NM_001198815.1 NP_001185744.1 E2RYF6 MUC22_HUMAN mucin 22 1376 124 X 10 AA approximate repeats.|Thr-rich. NA integral component of membrane (GO:0016021) breast(1) 1 CTCTGAGGCCACTACAGTTTC 0.537 NA A||| 457 0.091254 0.028 0.17 5008 , , NA 22032 0.0486 NA 0.1481 False NA ,,, NA NA NA 2504 0.1063 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense CCDS59003.1 6p21.33 2012-10-03 ENSG00000261272 ENSG00000261272 100507679 Mucins 39755 protein-coding gene gene with protein product panbronchiolitis related mucin-like 1 613917 NA 20981447 Standard NM_001198815 NM_001198815 NA Approved PBMUCL1 uc021yug.1 E2RYF6 OTTHUMG00000133673 ENST00000561890.1:c.4126A>G chr6.hg19:g.30997334A>G ENSP00000455906:p.Thr1376Ala NA H3BQR8 hg19 CCDS59003.1 0.02 30.14154 GCCxCTA COVERED NOVEL MUC22-001 NOVEL basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000257856.2 4 21.96477 KEEP 0 0 0 73 2248 AA 1 1 0 + 30 60 1064 0 0 66.251768 709 60 25199 975 ENST00000561890.1 0.040595 1 MUC22 100507679 __UNKNOWN__ __UNKNOWN__ 6 30997352 30997352 __UNKNOWN__ Missense_Mutation SNP A A G rs575720827 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:30997352A>G ENST00000561890.1 + 2 4377 c.4144A>G c.(4144-4146)Agc>Ggc p.S1382G NM_001198815.1 NP_001185744.1 E2RYF6 MUC22_HUMAN mucin 22 1382 124 X 10 AA approximate repeats.|Thr-rich. NA integral component of membrane (GO:0016021) breast(1) 1 TTCTACCACTAGCTCTGAGAC 0.527 NA G||| 513 0.102436 0.0492 0.1758 5008 , , NA 22184 0.0655 NA 0.1551 False NA ,,, NA NA NA 2504 0.1063 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense CCDS59003.1 6p21.33 2012-10-03 ENSG00000261272 ENSG00000261272 100507679 Mucins 39755 protein-coding gene gene with protein product panbronchiolitis related mucin-like 1 613917 NA 20981447 Standard NM_001198815 NM_001198815 NA Approved PBMUCL1 uc021yug.1 E2RYF6 OTTHUMG00000133673 ENST00000561890.1:c.4144A>G chr6.hg19:g.30997352A>G ENSP00000455906:p.Ser1382Gly NA H3BQR8 hg19 CCDS59003.1 0.02 33.400644 ACTxGCT COVERED NOVEL MUC22-001 NOVEL basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000257856.2 5 21.901631 KEEP 0 0 0 73 2219 AA 1 1 0 + 37 60 1382 0 0 92.016096 706 60 25594 982 ENST00000561890.1 0.049798 1 MUC22 100507679 __UNKNOWN__ __UNKNOWN__ 6 30997824 30997824 __UNKNOWN__ Missense_Mutation SNP T T C rs12110785 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:30997824T>C ENST00000561890.1 + 2 4849 c.4616T>C c.(4615-4617)cTc>cCc p.L1539P NM_001198815.1 NP_001185744.1 E2RYF6 MUC22_HUMAN mucin 22 1539 Thr-rich. NA integral component of membrane (GO:0016021) breast(1) 1 ACGTTTGTACTCACCAAGGCC 0.522 NA C||| 791 0.157947 0.1664 0.196 5008 , , NA 20522 0.1597 NA 0.159 False NA ,,, NA NA NA 2504 0.1166 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense CCDS59003.1 6p21.33 2012-10-03 ENSG00000261272 ENSG00000261272 100507679 Mucins 39755 protein-coding gene gene with protein product panbronchiolitis related mucin-like 1 613917 NA 20981447 Standard NM_001198815 NM_001198815 NA Approved PBMUCL1 uc021yug.1 E2RYF6 OTTHUMG00000133673 ENST00000561890.1:c.4616T>C chr6.hg19:g.30997824T>C ENSP00000455906:p.Leu1539Pro NA H3BQR8 hg19 CCDS59003.1 0.02 14.302361 TACxCAC COVERED NOVEL MUC22-001 NOVEL basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000257856.2 7 15.009133 KEEP 0 0 0 50 1528 TT 1 1 0 + 17 60 597 0 0 37.720511 361 60 13087 516 ENST00000561890.1 0.044974 1 MUC22 100507679 __UNKNOWN__ __UNKNOWN__ 6 31000139 31000139 __UNKNOWN__ Silent SNP C C T rs11753325 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:31000139C>T ENST00000561890.1 + 3 5069 c.4836C>T c.(4834-4836)caC>caT p.H1612H NM_001198815.1 NP_001185744.1 E2RYF6 MUC22_HUMAN mucin 22 1612 Thr-rich. NA integral component of membrane (GO:0016021) breast(1) 1 CCTCAGCCCACGGCGTCAGGA 0.582 NA c||| 437 0.0872604 0.0204 0.1614 5008 , , NA 20397 0.0476 NA 0.1481 False NA ,,, NA NA NA 2504 0.1033 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001819 synonymous_variant CCDS59003.1 6p21.33 2012-10-03 ENSG00000261272 ENSG00000261272 100507679 Mucins 39755 protein-coding gene gene with protein product panbronchiolitis related mucin-like 1 613917 NA 20981447 Standard NM_001198815 NM_001198815 NA Approved PBMUCL1 uc021yug.1 E2RYF6 OTTHUMG00000133673 ENST00000561890.1:c.4836C>T chr6.hg19:g.31000139C>T NA H3BQR8 hg19 CCDS59003.1 0.02 13.837726 CCAxGGC COVERED NOVEL MUC22-001 NOVEL basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000257856.2 2 10.232449 KEEP 0 0 0 34 1158 CC 0.999998 0.999998 0 + 17 60 608 0 0 40.160613 301 60 10743 425 ENST00000561890.1 0.053459 1 MUC22 100507679 __UNKNOWN__ __UNKNOWN__ 6 31000388 31000388 __UNKNOWN__ Intron SNP G G A rs11753401 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:31000388G>A ENST00000561890.1 + 3 5288 NM_001198815.1 NP_001185744.1 E2RYF6 MUC22_HUMAN mucin 22 NA NA integral component of membrane (GO:0016021) breast(1) 1 TCATAGGGGAGCCTGGCAAGA 0.507 NA G||| 441 0.0880591 0.0204 0.1628 5008 , , NA 18923 0.0476 NA 0.1481 False NA ,,, NA NA NA 2504 0.1063 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS59003.1 6p21.33 2012-10-03 ENSG00000261272 ENSG00000261272 100507679 Mucins 39755 protein-coding gene gene with protein product panbronchiolitis related mucin-like 1 613917 NA 20981447 Standard NM_001198815 NM_001198815 NA Approved PBMUCL1 uc021yug.1 E2RYF6 OTTHUMG00000133673 ENST00000561890.1:c.5055+30G>A chr6.hg19:g.31000388G>A NA H3BQR8 hg19 CCDS59003.1 0.02 3.547905 GGAxCCT COVERED NOVEL MUC22-001 NOVEL basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000257856.2 2 3.009746 KEEP 0 0 0 10 348 GG 0.992708 0.992707 0 + 5 60 172 0 0 10.408877 124 60 4523 157 ENST00000561890.1 0.03876 1 MUC22 100507679 __UNKNOWN__ __UNKNOWN__ 6 31002616 31002616 __UNKNOWN__ Silent SNP C C T rs4248154 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:31002616C>T ENST00000561890.1 + 4 5456 c.5223C>T c.(5221-5223)caC>caT p.H1741H NM_001198815.1 NP_001185744.1 E2RYF6 MUC22_HUMAN mucin 22 1741 NA integral component of membrane (GO:0016021) breast(1) 1 GAGGAACACACGGCTTTGGAT 0.552 NA T||| 1063 0.21226 0.1089 0.2248 5008 , , NA 18569 0.3046 NA 0.1769 False NA ,,, NA NA NA 2504 0.2843 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001819 synonymous_variant CCDS59003.1 6p21.33 2012-10-03 ENSG00000261272 ENSG00000261272 100507679 Mucins 39755 protein-coding gene gene with protein product panbronchiolitis related mucin-like 1 613917 NA 20981447 Standard NM_001198815 NM_001198815 NA Approved PBMUCL1 uc021yug.1 E2RYF6 OTTHUMG00000133673 ENST00000561890.1:c.5223C>T chr6.hg19:g.31002616C>T NA H3BQR8 hg19 CCDS59003.1 0.02 14.482103 ACAxGGC COVERED NOVEL MUC22-001 NOVEL basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000257856.2 2 10.232462 KEEP 0 0 0 34 1170 CC 0.999998 0.999998 0 + 12 60 405 0 0 23.314103 357 60 12478 478 ENST00000561890.1 0.03252 1 C6orf15 29113 __UNKNOWN__ __UNKNOWN__ 6 31079994 31079994 __UNKNOWN__ Missense_Mutation SNP C C T rs2233976 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:31079994C>T ENST00000259870.3 - 2 145 c.142G>A c.(142-144)Gga>Aga p.G48R NM_014070.2 NP_054789.2 Q6UXA7 CF015_HUMAN chromosome 6 open reading frame 15 48 NA G -> R (in dbSNP:rs2233976). extracellular matrix organization (GO:0030198) interstitial matrix (GO:0005614) heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540) p.G48R(1) endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1) 17 GAAGGTTGTCCGAGCTGAGGC 0.552 NA C||| 400 0.0798722 0.0461 0.1455 5008 , , NA 18984 0.0387 NA 0.1163 False NA ,,, NA NA NA 2504 0.0838 NA NA NA NA 1 Substitution - Missense(1) stomach(1) C ARG/GLY 240,4088 5,230,1929 127 150 143 142 3 0 6 dbSNP_98 143 786,7762 49,688,3537 yes missense C6orf15 NM_014070.2 125 54,918,5466 TT,TC,CC 9.1951,5.5453,7.9683 probably-damaging 48/326 31079994 1026,11850 2164 4274 6438 SO:0001583 missense AB031481 CCDS4693.1 6p21 2011-12-12 ENSG00000204542 ENSG00000204542 29113 13927 protein-coding gene gene with protein product 611401 NA Standard NM_014070 NM_014070 NA Approved STG uc003nsk.1 Q6UXA7 OTTHUMG00000031111 ENST00000259870.3:c.142G>A chr6.hg19:g.31079994C>T ENSP00000259870:p.Gly48Arg NA B0S7V8|Q0EFA6|Q2L6G7|Q5SQ81|Q86Z05|Q9UIG3 hg19 CCDS4693.1 0.02 12.404383 GTCxGAG COVERED 194 0.08882783882783883 22 0.044715447154471545 60 0.16574585635359115 20 0.03496503496503497 92 0.12137203166226913 C 15.74 2.921597 0.52653 0.055453 0.091951 ENSG00000204542 ENST00000259870 T 0.06371 3.31 4.81 3.01 0.34805 . 0.288753 0.24886 N 0.034817 T 0.02767 0.0083 L 0.56769 1.78 0.80722 P 0.0 P 0.47409 0.895 B 0.40256 0.324 T 0.37220 -0.9715 9 0.72032 D 0.01 -5.6377 6.5402 0.22377 0.0:0.7202:0.1819:0.0979 rs2233976;rs52800999;rs2233976 48 Q6UXA7 CF015_HUMAN R 48 ENSP00000259870:G48R ENSP00000259870:G48R G - 1 0 C6orf15 31187973 0.001000 0.12720 0.004000 0.12327 0.010000 0.07245 0.533000 0.23082 0.605000 0.29947 0.549000 0.68633 GGA NOVEL C6orf15-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076184.2 2 23.172592 KEEP 0 0 0 77 2617 CC 1 1 0 - 9 60 331 0 0 19.298993 336 60 11841 529 ENST00000259870.3 0.026087 1 CDSN 1041 __UNKNOWN__ __UNKNOWN__ 6 31084333 31084333 __UNKNOWN__ Silent SNP G G A rs36097319 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:31084333G>A ENST00000376288.2 - 2 1085 c.1059C>T c.(1057-1059)agC>agT p.S353S PSORS1C1_ENST00000259881.9_Intron|PSORS1C1_ENST00000467107.1_3'UTR NM_001264.4 NP_001255 Q15517 CDSN_HUMAN corneodesmosin 353 Ser-rich. NA cell adhesion (GO:0007155)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)|skin morphogenesis (GO:0043589) cell-cell junction (GO:0005911)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062) protein homodimerization activity (GO:0042803) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1) 10 TGATGGGGTTGCTGGAGAAGT 0.617 NA G||| 80 0.0159744 0.0045 0.0043 5008 , , NA 15523 0.0069 NA 0.0 False NA ,,, NA NA NA 2504 0.0654 NA NA NA NA 0 G , 34,4372 0,34,2169 20 20 20 1059, 3 1 6 dbSNP_126 20 2,8586 0,2,4292 no coding-synonymous,intron CDSN,PSORS1C1 NM_001264.4,NM_014068.2 , 0,36,6461 AA,AG,GG 0.0233,0.7717,0.2771 , 353/530, 31084333 36,12958 2203 4294 6497 SO:0001819 synonymous_variant AF030130 CCDS34389.1 6p21.3 2008-07-29 ENSG00000204539 ENSG00000204539 1041 1802 protein-coding gene gene with protein product 602593 NA 9395522, 8415725 Standard NM_001264 NA Approved D6S586E uc003nsm.2 Q15517 OTTHUMG00000031150 ENST00000376288.2:c.1059C>T chr6.hg19:g.31084333G>A NA B0S7V2|B0UYZ7|O43509|Q5SQ85|Q5STD2|Q7LA70|Q7LA71|Q86Z04|Q8IZU4|Q8IZU5|Q8IZU6|Q8N5P3|Q95IF9|Q9NP52|Q9NPE0|Q9NPG5|Q9NRH4|Q9NRH5|Q9NRH6|Q9NRH7|Q9NRH8|Q9UBH8|Q9UIN6|Q9UIN7|Q9UIN8|Q9UIN9|Q9UIP0 hg19 CCDS34389.1 0.02 5.779803 GTTxCTG COVERED NOVEL CDSN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076275.2 2 19.863489 KEEP 0 0 0 66 2291 GG 1 1 0 - 7 60 229 0 0 13.839291 151 60 5518 281 ENST00000376288.2 0.044304 1 PSORS1C1 170679 __UNKNOWN__ __UNKNOWN__ 6 31097380 31097380 __UNKNOWN__ 5'UTR SNP C C G rs371098747 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:31097380C>G ENST00000259881.9 + 0 260 NM_014068.2 NP_054787.2 Q9UIG5 PS1C1_HUMAN psoriasis susceptibility 1 candidate 1 NA NA kidney(1)|ovary(2)|prostate(1)|skin(1) 5 aggcagtcctccatccagtct 0.488 NA G||| 15 0.00299521 0.0 0.0 5008 , , NA 22009 0.0129 NA 0.0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 G 1,3021 0,1,1510 220 174 191 -1 0 6 191 0,5418 0,0,2709 no utr-5 PSORS1C1 NM_014068.2 0,1,4219 GG,GC,CC 0.0,0.0331,0.0118 31097380 1,8439 1511 2709 4220 SO:0001623 5_prime_UTR_variant AB031479 CCDS34390.1 6p21.3 2014-01-28 2003-06-12 ENSG00000204540 ENSG00000204540 170679 17202 protein-coding gene gene with protein product 613525 chromosome 6 open reading frame 16 C6orf16 NA Standard NM_014068 NM_014068 NA Approved SEEK1 uc003nsl.2 Q9UIG5 OTTHUMG00000031077 ENST00000259881.9:c.-30C>G chr6.hg19:g.31097380C>G NA B0V083|Q5ST21|Q86WJ8|Q86WJ9|Q96QC3 hg19 CCDS34390.1 0.02 22.177761 CCTxCAT COVERED NOVEL PSORS1C1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076110.3 3 25.58234 KEEP 0 0 0 85 2950 CC 1 1 0 + 14 60 529 0 0 31.723478 497 60 18662 733 ENST00000259881.9 0.027397 1 PSORS1C1 170679 __UNKNOWN__ __UNKNOWN__ 6 31106268 31106268 __UNKNOWN__ Intron SNP A A G rs3130573 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:31106268A>G ENST00000481450.2 + 1 103 PSORS1C1_ENST00000547221.1_Intron|PSORS1C1_ENST00000259881.9_Intron|PSORS1C2_ENST00000259845.4_Intron Q9UIG5 PS1C1_HUMAN psoriasis susceptibility 1 candidate 1 NA NA kidney(1)|ovary(2)|prostate(1)|skin(1) 5 TGATGGTAAAATGTCATGAAC 0.478 NA A||| 1716 0.342652 0.4879 0.317 5008 , , NA 17125 0.1835 NA 0.3469 False NA ,,, NA NA NA 2504 0.3241 NA NA NA NA 0 A , 1356,1666 287,782,442 69 71 71 http://www.ncbi.nlm.nih.gov/pubmed?term , 1 0 6 dbSNP_103 71 1874,3544 338,1198,1173 yes intron,intron PSORS1C1,PSORS1C2 NM_014068.2,NM_014069.2 , 625,1980,1615 GG,GA,AA http://www.ncbi.nlm.nih.gov/pubmed?term 34.5884,44.8709,38.2701 , , 31106268 3230,5210 1511 2709 4220 SO:0001627 intron_variant AB031479 CCDS34390.1 6p21.3 2014-01-28 2003-06-12 ENSG00000204540 ENSG00000204540 170679 17202 protein-coding gene gene with protein product 613525 chromosome 6 open reading frame 16 C6orf16 NA Standard NM_014068 NM_014068 NA Approved SEEK1 uc003nsl.2 Q9UIG5 OTTHUMG00000031077 ENST00000481450.2:c.-23+32A>G chr6.hg19:g.31106268A>G NA B0V083|Q5ST21|Q86WJ8|Q86WJ9|Q96QC3 hg19 0.02 15.16623 AAAxTGT COVERED NOVEL PSORS1C1-005 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000076111.4 4 23.943152 KEEP 0 2 73 105 3357 AA 1 1 0 + 10 60 378 0 0 22.747031 349 60 12603 592 ENST00000481450.2 0.027855 1 POU5F1 5460 __UNKNOWN__ __UNKNOWN__ 6 31133894 31133894 __UNKNOWN__ Intron SNP G G C rs9501063 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:31133894G>C ENST00000512818.1 - 2 305 POU5F1_ENST00000513407.1_5'UTR|POU5F1_ENST00000606567.1_Intron|POU5F1_ENST00000259915.8_Intron|POU5F1_ENST00000441888.3_Intron|POU5F1_ENST00000471529.2_5'UTR Q01860 PO5F1_HUMAN POU class 5 homeobox 1 NA NA anatomical structure morphogenesis (GO:0009653)|blastocyst development (GO:0001824)|BMP signaling pathway involved in heart induction (GO:0003130)|cardiac cell fate determination (GO:0060913)|cell fate commitment involved in formation of primary germ layer (GO:0060795)|endodermal cell fate specification (GO:0001714)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of gene silencing by miRNA (GO:0060965)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of asymmetric cell division (GO:0009786)|regulation of gene expression (GO:0010468)|regulation of heart induction by regulation of canonical Wnt signaling pathway (GO:0090081)|regulation of methylation-dependent chromatin silencing (GO:0090308)|regulation of transcription, DNA-templated (GO:0006355)|response to wounding (GO:0009611)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) DNA binding (GO:0003677)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625) EWSR1/POU5F1(10) breast(1)|large_intestine(2)|lung(3)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 13 Dopamine(DB00988)|Norepinephrine(DB00368) CTTTCCATTCGGGATTCAAGA 0.448 NA T EWSR1 sarcoma G||| 548 0.109425 0.1891 0.0317 5008 , , NA 20032 0.1825 NA 0.0427 False NA ,,, NA NA NA 2504 0.0501 NA NA NA Dom yes 6 6p21.31 5460 POU domain, class 5, transcription factor 1 M 0 G ,, 396,2256 33,330,963 54 66 61 ,, -3.7 0 6 dbSNP_119 61 134,4484 3,128,2178 no intron,intron,utr-5 POU5F1 NM_001173531.1,NM_002701.4,NM_203289.4 ,, 36,458,3141 CC,CG,GG 2.9017,14.9321,7.2902 ,, ,, 31133894 530,6740 1326 2309 3635 SO:0001627 intron_variant Z11898 CCDS34391.1, CCDS47398.1, CCDS47398.2, CCDS75420.1 6p21.33 2011-06-20 2007-07-13 ENSG00000204531 ENSG00000204531 5460 Homeoboxes / POU class 9221 protein-coding gene gene with protein product 164177 POU domain class 5, transcription factor 1 OTF3 NA 1408763 Standard NM_002701 NM_002701 NA Approved OCT3, Oct4, MGC22487 uc003nsv.3 Q01860 OTTHUMG00000031206 ENST00000512818.1:c.183-70C>G chr6.hg19:g.31133894G>C NA A6NCS1|A6NLL8|D2IYK4|P31359|Q15167|Q15168|Q16422|Q5STF3|Q5STF4 hg19 0.02 17.646035 TTCxGGA COVERED NOVEL POU5F1-006 PUTATIVE alternative_5_UTR|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000367030.4 1 22.572563 KEEP 0 0 0 75 2577 GG 1 1 0 - 15 60 502 0 0 28.687379 447 70 15609 670 ENST00000512818.1 0.032468 1 HLA-C 3107 __UNKNOWN__ __UNKNOWN__ 6 31237766 31237766 __UNKNOWN__ Missense_Mutation SNP A A T rs386698960|rs41542414 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:31237766A>T ENST00000376228.5 - 5 1006 c.992T>A c.(991-993)aTg>aAg p.M331K HLA-C_ENST00000383329.3_Missense_Mutation_p.M331K NM_002117.5 NP_002108.4 Q95604 1C17_HUMAN major histocompatibility complex, class I, C 337 NA antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032) cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886) peptide antigen binding (GO:0042605) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 17 CCTACACATCATAGCGGTGAC 0.587 NA A||| 82 0.0163738 0.003 0.0043 5008 , , NA 10279 0.0079 NA 0.0 False NA ,,, NA NA NA 2504 0.0685 NA NA NA NA 0 A LYS/MET 44,4246 15,14,2116 38 43 41 992 2.5 0 6 dbSNP_127 41 4,8412 2,0,4206 no missense HLA-C NM_002117.5 95 17,14,6322 TT,TA,AA 0.0475,1.0256,0.3778 benign 331/367 31237766 48,12658 2145 4208 6353 SO:0001583 missense M11886 CCDS34393.1 6p21.3 2014-01-30 ENSG00000204525 ENSG00000204525 3107 Histocompatibility complex, Immunoglobulin superfamily / C1-set domain containing 4933 protein-coding gene gene with protein product 142840 psoriasis susceptibility 1 HLA-JY3, D6S204, PSORS1 NA 3863816, 16642438 Standard NM_002117 NM_001243042 NA Approved uc003nsy.3 P04222 OTTHUMG00000031154 ENST00000376228.5:c.992T>A chr6.hg19:g.31237766A>T ENSP00000365402:p.Met331Lys NA O02864|O02958|Q29643|Q9MY30 hg19 CCDS34393.1 0.02 6.078863 ATCxTAG COVERED 5 0.0022893772893772895 2 0.0040650406504065045 1 0.0027624309392265192 2 0.0034965034965034965 0 0.0 . 4.434 0.080340 0.08533 0.010256 4.75E-4 ENSG00000204525 ENST00000376228;ENST00000383329;ENST00000396254;ENST00000539307 T;T 0.00760 5.73;5.75 2.52 2.52 0.30459 . 0.000000 0.37530 U 0.002055 T 0.00666 0.0022 M 0.88512 2.96 0.09310 N 1 B;B;B;B 0.19445 0.036;0.021;0.036;0.021 B;B;B;B 0.20955 0.032;0.017;0.032;0.017 T 0.41088 -0.9528 10 0.87932 D 0 . 6.9504 0.24542 1.0:0.0:0.0:0.0 rs41542414 331;331;331;331 A2AEA4;A6H578;A2AEA2;P10321 .;.;.;1C07_HUMAN K 331;331;331;368 ENSP00000365402:M331K;ENSP00000372819:M331K ENSP00000365402:M331K M - 2 0 HLA-C 31345745 0.025000 0.19082 0.035000 0.18076 0.024000 0.10985 0.954000 0.29175 1.413000 0.46997 0.248000 0.18094 ATG NOVEL HLA-C-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076281.3 9 15.646178 KEEP 0 0 0 52 1629 AA 1 1 0 - 7 60 242 0 0 20.349095 24 60 851 248 ENST00000376228.5 0.225806 1 HLA-C 3107 __UNKNOWN__ __UNKNOWN__ 6 31237871 31237871 __UNKNOWN__ Intron SNP G G A rs9461679 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:31237871G>A ENST00000376228.5 - 5 910 HLA-C_ENST00000383329.3_Intron NM_002117.5 NP_002108.4 Q95604 1C17_HUMAN major histocompatibility complex, class I, C NA NA antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032) cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886) peptide antigen binding (GO:0042605) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 17 CTCTGGGAAAGGAGGAGAAGG 0.607 NA G||| 170 0.0339457 0.0628 0.013 5008 , , NA 15908 0.0069 NA 0.006 False NA ,,, NA NA NA 2504 0.0665 NA NA NA NA 0 G 243,4161 34,175,1993 38 40 39 1.8 0.1 6 dbSNP_119 39 42,8554 3,36,4259 no intron HLA-C NM_002117.5 37,211,6252 AA,AG,GG 0.4886,5.5177,2.1923 31237871 285,12715 2202 4298 6500 SO:0001627 intron_variant M11886 CCDS34393.1 6p21.3 2014-01-30 ENSG00000204525 ENSG00000204525 3107 Histocompatibility complex, Immunoglobulin superfamily / C1-set domain containing 4933 protein-coding gene gene with protein product 142840 psoriasis susceptibility 1 HLA-JY3, D6S204, PSORS1 NA 3863816, 16642438 Standard NM_002117 NM_001243042 NA Approved uc003nsy.3 P04222 OTTHUMG00000031154 ENST00000376228.5:c.896-9C>T chr6.hg19:g.31237871G>A NA O02864|O02958|Q29643|Q9MY30 hg19 CCDS34393.1 0.02 10.521048 AAAxGAG COVERED NOVEL HLA-C-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076281.3 33 24.078467 KEEP 1 0 0 80 2881 GG 1 1 0 - 20 60 708 0 0 59.862005 68 70 2512 420 ENST00000376228.5 0.227273 1 HLA-B 3106 __UNKNOWN__ __UNKNOWN__ 6 31321883 31321883 __UNKNOWN__ 3'UTR SNP G G A rs1056429 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:31321883G>A ENST00000412585.2 - 0 1312 NM_005514.6 NP_005505.2 P30486 1B48_HUMAN major histocompatibility complex, class I, B NA NA antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032) cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612) peptide antigen binding (GO:0042605) endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2) 27 GGAAACACAGGTCAGCATGGG 0.527 NA Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of G||| 907 0.18111 0.1437 0.121 5008 , , NA 14456 0.3532 NA 0.1004 False NA ,,, NA NA NA 2504 0.18 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Familial Cancer Database ;Lichen Sclerosis, Familial M15470 CCDS34394.1 6p21.3 2013-01-11 ENSG00000234745 ENSG00000234745 3106 Histocompatibility complex, Immunoglobulin superfamily / C1-set domain containing 4932 protein-coding gene gene with protein product 142830 ankylosing spondylitis AS NA 3459708 Standard NM_005514 NM_005514 NA Approved uc011imz.2 P01889 OTTHUMG00000031153 ENST00000412585.2:c.*195C>T chr6.hg19:g.31321883G>A NA Q29764 hg19 CCDS34394.1 0.02 3.820931 CAGxTCA COVERED NOVEL HLA-B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076280.4 0 4.349951 KEEP 0 1 36 27 939 GG 0.999997 0.999989 0 - 5 60 175 0 0 12.267552 59 60 2163 155 ENST00000412585.2 0.078125 0.999992 HLA-B 3106 __UNKNOWN__ __UNKNOWN__ 6 31322047 31322047 __UNKNOWN__ 3'UTR SNP A A G rs1053726 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:31322047A>G ENST00000412585.2 - 0 1148 NM_005514.6 NP_005505.2 P30486 1B48_HUMAN major histocompatibility complex, class I, B NA NA antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032) cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612) peptide antigen binding (GO:0042605) endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2) 27 CCTGCATCTCAGTCCCTCACA 0.483 NA Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of A||| 723 0.144369 0.0575 0.1499 5008 , , NA 15372 0.2827 NA 0.1213 False NA ,,, NA NA NA 2504 0.1391 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Familial Cancer Database ;Lichen Sclerosis, Familial M15470 CCDS34394.1 6p21.3 2013-01-11 ENSG00000234745 ENSG00000234745 3106 Histocompatibility complex, Immunoglobulin superfamily / C1-set domain containing 4932 protein-coding gene gene with protein product 142830 ankylosing spondylitis AS NA 3459708 Standard NM_005514 NM_005514 NA Approved uc011imz.2 P01889 OTTHUMG00000031153 ENST00000412585.2:c.*31T>C chr6.hg19:g.31322047A>G NA Q29764 hg19 CCDS34394.1 0.02 6.230973 CTCxGTC COVERED NOVEL HLA-B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076280.4 1 6.891113 KEEP 0 2 69 47 1500 AA 1 1 0 - 9 60 321 0 0 21.614144 141 60 5329 253 ENST00000412585.2 0.06 1 HLA-B 3106 __UNKNOWN__ __UNKNOWN__ 6 31323353 31323353 __UNKNOWN__ Silent SNP G G A rs2257269 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:31323353G>A ENST00000412585.2 - 4 664 c.636C>T c.(634-636)caC>caT p.H212H NM_005514.6 NP_005505.2 P30486 1B48_HUMAN major histocompatibility complex, class I, B 212 Alpha-3.|Ig-like C1-type. NA antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032) cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612) peptide antigen binding (GO:0042605) endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2) 27 GGTGGGTCACGTGTGTCTTTG 0.587 NA Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of g||| 2004 0.40016 0.3775 0.4524 5008 , , NA 18484 0.4018 NA 0.4066 False NA ,,, NA NA NA 2504 0.3855 NA NA NA NA 0 A 1860,2546 400,1060,743 84 87 86 http://www.ncbi.nlm.nih.gov/sites/varvu?gene 636 -6.4 0 6 dbSNP_100 86 3620,4980 747,2126,1427 no coding-synonymous HLA-B NM_005514.6 1147,3186,2170 AA,AG,GG 42.093,42.2152,42.1344 212/363 31323353 5480,7526 2203 4300 6503 SO:0001819 synonymous_variant Familial Cancer Database ;Lichen Sclerosis, Familial M15470 CCDS34394.1 6p21.3 2013-01-11 ENSG00000234745 ENSG00000234745 3106 Histocompatibility complex, Immunoglobulin superfamily / C1-set domain containing 4932 protein-coding gene gene with protein product 142830 ankylosing spondylitis AS NA 3459708 Standard NM_005514 NM_005514 NA Approved uc011imz.2 P01889 OTTHUMG00000031153 ENST00000412585.2:c.636C>T chr6.hg19:g.31323353G>A NA Q29764 hg19 CCDS34394.1 0.02 11.978865 CACxTGT COVERED NOVEL HLA-B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076280.4 5 25.852008 KEEP 2 2 63 108 3775 GG 1 1 0 - 12 60 456 0 0 30.196054 249 60 8669 502 ENST00000412585.2 0.045977 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 31332078 31332078 __UNKNOWN__ IGR SNP C C T rs2596550 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:31332078C>T NA NA HLA-B (7114 upstream) : RNU6-283P (5832 downstream) NA NA NA tgggccattccacccagcTAA 0.448 NA .||| 661 0.131989 0.1785 0.1585 5008 , , NA 16889 0.0347 NA 0.1889 False NA ,,, NA NA NA 2504 0.092 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.31332078C>T NA hg19 0.02 1.681724 TTCxACC COVERED NOVEL 0 3 5.718302 KEEP 0 0 0 19 651 CC 0.99986 0.999741 0 7 60 221 0 0 14.767012 84 60 3004 116 0.076923 0.999881 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 31332091 31332091 __UNKNOWN__ IGR SNP T T G rs2523550 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:31332091T>G NA NA HLA-B (7127 upstream) : RNU6-283P (5819 downstream) NA NA NA ccagcTAACCTATTAATATTT 0.458 NA .||| 661 0.131989 0.1785 0.1585 5008 , , NA 16744 0.0347 NA 0.1889 False NA ,,, NA NA NA 2504 0.092 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.31332091T>G NA hg19 0.02 4.337235 ACCxATT COVERED NOVEL 0 2 4.511599 KEEP 0 0 0 15 430 TT 0.99649 0.99648 0 6 60 187 0 0 11.565037 100 60 3544 124 0.056604 0.999989 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 31332739 31332739 __UNKNOWN__ IGR SNP C C T rs9266359 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:31332739C>T NA NA HLA-B (7775 upstream) : RNU6-283P (5171 downstream) NA NA NA TGGGCCCAAACCCAGGGCAAA 0.403 NA .||| 1533 0.30611 0.2375 0.2579 5008 , , NA 18572 0.4127 NA 0.2147 False NA ,,, NA NA NA 2504 0.4172 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.31332739C>T NA hg19 0.02 6.290096 AAAxCCA COVERED NOVEL 0 0 2.675215 KEEP 0 2 42 24 817 CC 0.999957 0.999957 0 6 60 223 0 0 13.941301 161 60 5971 206 0.035928 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 31332915 31332915 __UNKNOWN__ IGR SNP C C T rs2853996 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:31332915C>T NA NA HLA-B (7951 upstream) : RNU6-283P (4995 downstream) NA NA NA TCAAATAAACCATGCGTGGCT 0.388 NA .||| 663 0.132388 0.1785 0.1599 5008 , , NA 15770 0.0347 NA 0.1889 False NA ,,, NA NA NA 2504 0.093 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.31332915C>T NA hg19 0.02 6.696154 AACxATG COVERED NOVEL 0 2 13.544332 KEEP 0 0 0 45 1595 CC 1 1 0 8 60 298 0 0 19.25476 180 60 6800 260 0.042553 1 MICA 100507436 __UNKNOWN__ __UNKNOWN__ 6 31378956 31378956 __UNKNOWN__ Missense_Mutation SNP C C G rs1051790 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:31378956C>G ENST00000449934.2 + 3 487 c.433C>G c.(433-435)Ctg>Gtg p.L145V HCP5_ENST00000414046.2_RNA NM_001177519.1 NP_001170990.1 MHC class I polypeptide-related sequence A NA NA breast(1)|endometrium(3)|kidney(1) 5 Ovarian(999;0.0253) CTCCCAAAACCTGGAGACTGA 0.522 NA c||| 1093 0.218251 0.2723 0.2118 5008 , , NA 20699 0.122 NA 0.1948 False NA ,,, NA NA NA 2504 0.273 NA NA NA NA 0 C VAL/LEU 338,1046 43,252,397 68 60 63 433 1.9 0 6 dbSNP_86 63 489,2693 39,411,1141 yes missense MICA NM_001177519.1 32 82,663,1538 GG,GC,CC 15.3677,24.422,18.1121 probably-damaging 145/333 31378956 827,3739 692 1591 2283 SO:0001583 missense L14848 CCDS56412.1, CCDS75421.1 6p21.3 2013-01-11 ENSG00000204520 ENSG00000204520 100507436 Immunoglobulin superfamily / C1-set domain containing 7090 protein-coding gene gene with protein product 600169 NA 8022771 Standard NM_001177519 NM_000247 NA Approved PERB11.1 uc003ntk.1 Q29983 OTTHUMG00000031073 ENST00000449934.2:c.433C>G chr6.hg19:g.31378956C>G ENSP00000413079:p.Leu145Val NA hg19 CCDS56412.1 0.02 10.835932 AACxTGG COVERED 414 0.18956043956043955 138 0.2804878048780488 66 0.18232044198895028 93 0.16258741258741258 117 0.15435356200527706 N 7.509 0.654194 0.14580 0.24422 0.153677 ENSG00000204520 ENST00000364810;ENST00000449934 T 0.00700 5.82 1.94 1.94 0.25998 . 0.504913 0.14706 N 0.303268 T 0.01695 0.0054 M 0.85859 2.78 0.80722 P 0.0 D 0.76494 0.999 D 0.85130 0.997 T 0.40059 -0.9583 9 0.59425 D 0.04 . 5.7228 0.17996 0.3182:0.6818:0.0:0.0 rs1051790;rs3819271;rs17883141;rs1051790 145 Q96QC4 . V 145 ENSP00000413079:L145V ENSP00000365394:L145V L + 1 2 MICA 31486935 0.000000 0.05858 0.004000 0.12327 0.030000 0.12068 -0.198000 0.09505 1.130000 0.42092 0.306000 0.20318 CTG NOVEL MICA-001 KNOWN not_best_in_genome_evidence|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076101.7 1 20.765804 KEEP 0 0 0 69 2370 CC 1 1 0 + 13 60 450 0 0 28.499383 261 60 9623 380 ENST00000449934.2 0.047445 1 MICA 100507436 __UNKNOWN__ __UNKNOWN__ 6 31379115 31379115 __UNKNOWN__ Missense_Mutation SNP G G A rs1131896 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:31379115G>A ENST00000449934.2 + 3 646 c.592G>A c.(592-594)Ggc>Agc p.G198S HCP5_ENST00000414046.2_RNA NM_001177519.1 NP_001170990.1 MHC class I polypeptide-related sequence A NA NA breast(1)|endometrium(3)|kidney(1) 5 Ovarian(999;0.0253) TCTAGAATCCGGCGTAGTCCT 0.537 NA g||| 1730 0.345447 0.2852 0.3501 5008 , , NA 20682 0.4216 NA 0.2823 False NA ,,, NA NA NA 2504 0.41 NA NA NA NA 0 G SER/GLY 379,1005 53,273,366 97 86 89 592 -2.8 0 6 dbSNP_86 89 805,2377 100,605,886 yes missense MICA NM_001177519.1 56 153,878,1252 AA,AG,GG 25.2986,27.3844,25.9308 benign 198/333 31379115 1184,3382 692 1591 2283 SO:0001583 missense L14848 CCDS56412.1, CCDS75421.1 6p21.3 2013-01-11 ENSG00000204520 ENSG00000204520 100507436 Immunoglobulin superfamily / C1-set domain containing 7090 protein-coding gene gene with protein product 600169 NA 8022771 Standard NM_001177519 NM_000247 NA Approved PERB11.1 uc003ntk.1 Q29983 OTTHUMG00000031073 ENST00000449934.2:c.592G>A chr6.hg19:g.31379115G>A ENSP00000413079:p.Gly198Ser NA hg19 CCDS56412.1 0.02 11.709819 TCCxGCG COVERED 672 0.3076923076923077 143 0.29065040650406504 112 0.30939226519337015 228 0.3986013986013986 189 0.24934036939313983 N 6.785 0.513740 0.12944 0.273844 0.252986 ENSG00000204520 ENST00000376222;ENST00000364810;ENST00000399172;ENST00000449934 T 0.00995 5.46 1.41 -2.82 0.05787 . 3.067170 0.01197 N 0.007461 T 0.00412 0.0013 M 0.67625 2.065 0.80722 P 0.0 B;P 0.34837 0.435;0.472 B;B 0.28553 0.036;0.091 T 0.41161 -0.9524 9 0.62326 D 0.03 . 0.6695 0.00856 0.1927:0.1761:0.3847:0.2464 rs1131896;rs2523494;rs3819266;rs17884174;rs56738748;rs1131896 60;198 Q5SS58;Q96QC4 .;. S 60;198;155;198 ENSP00000413079:G198S ENSP00000365394:G198S G + 1 0 MICA 31487094 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -0.607000 0.05648 -1.451000 0.01933 -1.206000 0.01644 GGC NOVEL MICA-001 KNOWN not_best_in_genome_evidence|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076101.7 1 18.394853 KEEP 0 1 34 73 2539 GG 1 1 0 + 9 60 334 0 0 20.902937 239 60 8506 397 ENST00000449934.2 0.03629 1 HCP5 10866 __UNKNOWN__ __UNKNOWN__ 6 31431539 31431539 __UNKNOWN__ RNA SNP T T C rs17206855 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:31431539T>C ENST00000414046.2 + 0 611 NR_040662.1 Q6MZN7 HCP5_HUMAN HLA complex P5 (non-protein coding) NA NA defense response (GO:0006952) urinary_tract(1) 1 tctgggctcttggaaatcaaa 0.552 NA t||| 182 0.0363419 0.0628 0.0202 5008 , , NA 21159 0.0079 NA 0.0089 False NA ,,, NA NA NA 2504 0.0695 NA NA NA NA 0 232,4174 4,224,1975 117 126 123 NA 0 6 dbSNP_123 123 48,8552 1,46,4253 no utr-3 HCP5 NM_006674.3 5,270,6228 CC,CT,TT 0.5581,5.2655,2.1529 31431539 280,12726 2203 4300 6503 D88650 6p21.3 2012-10-16 2011-08-02 ENSG00000206337 ENSG00000206337 10866 Long non-coding RNAs 21659 non-coding RNA RNA, long non-coding 604676 HLA complex P5 NA 8462994, 10199916 Standard NR_040662 NR_040662 NA Approved D6S2650E, P5-1 uc003ntl.3 Q6MZN7 OTTHUMG00000031282 ENST00000414046.2: chr6.hg19:g.31431539T>C NA Q04490 hg19 0.02 8.41111 TCTxGGA COVERED NOVEL HCP5-001 KNOWN basic sense_overlapping NA sense_overlapping OTTHUMT00000076614.4 2 24.971835 KEEP 0 0 0 83 2527 TT 1 1 0 + 8 60 285 0 0 17.038153 236 60 8706 425 ENST00000414046.2 0.032787 1 HCP5 10866 __UNKNOWN__ __UNKNOWN__ 6 31431636 31431636 __UNKNOWN__ RNA SNP T T A rs143344109 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:31431636T>A ENST00000414046.2 + 0 708 NR_040662.1 Q6MZN7 HCP5_HUMAN HLA complex P5 (non-protein coding) NA NA defense response (GO:0006952) urinary_tract(1) 1 gatccctgggttccacacgaa 0.567 NA t||| 79 0.0157748 0.0 0.0058 5008 , , NA 18687 0.0079 NA 0.0 False NA ,,, NA NA NA 2504 0.0685 NA NA NA NA 0 1,4405 0,1,2202 77 85 82 NA 0 6 dbSNP_134 82 2,8598 0,2,4298 no utr-3 HCP5 NM_006674.3 0,3,6500 AA,AT,TT 0.0233,0.0227,0.0231 31431636 3,13003 2203 4300 6503 D88650 6p21.3 2012-10-16 2011-08-02 ENSG00000206337 ENSG00000206337 10866 Long non-coding RNAs 21659 non-coding RNA RNA, long non-coding 604676 HLA complex P5 NA 8462994, 10199916 Standard NR_040662 NR_040662 NA Approved D6S2650E, P5-1 uc003ntl.3 Q6MZN7 OTTHUMG00000031282 ENST00000414046.2: chr6.hg19:g.31431636T>A NA Q04490 hg19 0.02 6.044587 GGGxTCC COVERED NOVEL HCP5-001 KNOWN basic sense_overlapping NA sense_overlapping OTTHUMT00000076614.4 0 20.157479 KEEP 0 0 0 67 2094 TT 1 1 0 + 11 60 402 0 0 27.054358 185 60 6501 326 ENST00000414046.2 0.056122 1 HCP5 10866 __UNKNOWN__ __UNKNOWN__ 6 31431757 31431757 __UNKNOWN__ RNA SNP A A G rs11752262 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:31431757A>G ENST00000414046.2 + 0 829 NR_040662.1 Q6MZN7 HCP5_HUMAN HLA complex P5 (non-protein coding) NA NA defense response (GO:0006952) urinary_tract(1) 1 tggtctctggacacatactgt 0.527 NA g||| 678 0.135383 0.1452 0.0735 5008 , , NA 19845 0.1726 NA 0.0646 False NA ,,, NA NA NA 2504 0.2004 NA NA NA NA 0 548,3858 43,462,1698 97 94 95 NA 0 6 dbSNP_120 95 518,8082 18,482,3800 yes utr-3 HCP5 NM_006674.3 61,944,5498 GG,GA,AA 6.0233,12.4376,8.1962 31431757 1066,11940 2203 4300 6503 D88650 6p21.3 2012-10-16 2011-08-02 ENSG00000206337 ENSG00000206337 10866 Long non-coding RNAs 21659 non-coding RNA RNA, long non-coding 604676 HLA complex P5 NA 8462994, 10199916 Standard NR_040662 NR_040662 NA Approved D6S2650E, P5-1 uc003ntl.3 Q6MZN7 OTTHUMG00000031282 ENST00000414046.2: chr6.hg19:g.31431757A>G NA Q04490 hg19 0.02 4.391743 TGGxCAC COVERED NOVEL HCP5-001 KNOWN basic sense_overlapping NA sense_overlapping OTTHUMT00000076614.4 1 12.336752 KEEP 0 0 0 41 1306 AA 1 1 0 + 8 60 284 0 0 19.064403 126 60 4425 212 ENST00000414046.2 0.059701 1 NCR3 259197 __UNKNOWN__ __UNKNOWN__ 6 31557791 31557791 __UNKNOWN__ Silent SNP G G A rs11575839 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:31557791G>A ENST00000340027.5 - 2 419 c.156C>T c.(154-156)tcC>tcT p.S52S NCR3_ENST00000376072.3_Silent_p.S52S|NCR3_ENST00000376073.4_Silent_p.S52S|NCR3_ENST00000376071.4_Silent_p.S52S|NCR3_ENST00000491161.1_5'UTR NM_147130.2 NP_667341.1 O14931 NCTR3_HUMAN natural cytotoxicity triggering receptor 3 52 Ig-like. NA cell recognition (GO:0008037)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954) integral component of plasma membrane (GO:0005887) cervix(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2) 9 ACCACGTGACGGAGCCAATGG 0.612 NA G||| 369 0.0736821 0.0885 0.0375 5008 , , NA 18128 0.0407 NA 0.0338 False NA ,,, NA NA NA 2504 0.1544 NA NA NA NA 0 G ,, 219,2803 4,211,1296 121 115 117 156,156,156 -6.1 0.1 6 dbSNP_120 117 124,5292 2,120,2586 no coding-synonymous,coding-synonymous,coding-synonymous NCR3 NM_001145466.1,NM_001145467.1,NM_147130.2 ,, 6,331,3882 AA,AG,GG http://www.ncbi.nlm.nih.gov/pubmed?term 2.2895,7.2469,4.0649 ,, 52/178,52/191,52/202 31557791 343,8095 1511 2708 4219 SO:0001819 synonymous_variant AB055881 CCDS34397.1, CCDS47401.1, CCDS47402.1 6p21.3 2013-01-11 2002-11-13 2002-11-15 ENSG00000204475 ENSG00000204475 259197 CD molecules, Immunoglobulin superfamily / V-set domain containing 19077 protein-coding gene gene with protein product 611550 lymphocyte antigen 117 LY117 NA 8824804, 11782277 Standard NM_001145466 NA Approved 1C7, NKp30, CD337 uc003nuv.2 O14931 OTTHUMG00000031123 ENST00000340027.5:c.156C>T chr6.hg19:g.31557791G>A NA B0S8F2|B0S8F4|B0S8F5|O14930|O14932|O95667|O95668|O95669|Q5ST89|Q5ST90|Q5ST91|Q5ST92|Q5STA3 hg19 CCDS34397.1 0.02 13.381988 GACxGAG COVERED NOVEL NCR3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000076210.2 2 14.4465 KEEP 0 0 0 48 1667 GG 1 1 0 - 14 60 491 0 0 31.249905 299 60 10190 430 ENST00000340027.5 0.044728 1 PRRC2A 7916 __UNKNOWN__ __UNKNOWN__ 6 31598489 31598489 __UNKNOWN__ Silent SNP A A G rs372791429|rs551644506|rs3130626 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:31598489A>G ENST00000376033.2 + 15 2610 c.2376A>G c.(2374-2376)gtA>gtG p.V792V PRRC2A_ENST00000376007.4_Silent_p.V792V NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A 792 4 X 57 AA type A repeats. NA cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634) poly(A) RNA binding (GO:0044822) breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 TGGCCTGGGTAGGAGATGTCT 0.602 NA A||| 663 0.132388 0.2103 0.0793 5008 , , NA 16570 0.0704 NA 0.1451 False NA ,,, NA NA NA 2504 0.1155 NA NA NA NA 0 84 74 77 NA NA 6 NA 31598489 2203 4300 6503 SO:0001819 synonymous_variant M31293 CCDS4708.1 6p21.3 2010-12-09 2010-12-09 2010-12-09 ENSG00000204469 ENSG00000204469 7916 13918 protein-coding gene gene with protein product 142580 HLA-B associated transcript 2 BAT2 NA 2156268, 8499947 Standard NM_080686 NM_080686 NA Approved G2, D6S51E uc003nvc.4 P48634 OTTHUMG00000031168 ENST00000376033.2:c.2376A>G chr6.hg19:g.31598489A>G NA B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6 hg19 CCDS4708.1 0.02 11.930838 GGTxGGA COVERED NOVEL PRRC2A-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000259319.1 1 20.758168 KEEP 0 0 0 69 2064 AA 1 1 0 + 9 60 345 0 0 21.439941 277 60 9856 428 ENST00000376033.2 0.031469 1 PRRC2A 7916 __UNKNOWN__ __UNKNOWN__ 6 31600820 31600820 __UNKNOWN__ Intron SNP A A G rs2736157 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:31600820A>G ENST00000376033.2 + 16 4553 PRRC2A_ENST00000376007.4_Intron NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A NA NA cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634) poly(A) RNA binding (GO:0044822) breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 GAGGAGGGGGAAAAAGCCTGA 0.517 NA A||| 664 0.132588 0.2103 0.0793 5008 , , NA 18184 0.0714 NA 0.1451 False NA ,,, NA NA NA 2504 0.1155 NA NA NA NA 0 A , 322,2478 29,264,1107 4 4 4 , -1 0 6 dbSNP_100 4 492,4520 42,408,2056 no intron,intron PRRC2A NM_004638.3,NM_080686.2 , 71,672,3163 GG,GA,AA 9.8164,11.5,10.4199 , , 31600820 814,6998 1400 2506 3906 SO:0001627 intron_variant M31293 CCDS4708.1 6p21.3 2010-12-09 2010-12-09 2010-12-09 ENSG00000204469 ENSG00000204469 7916 13918 protein-coding gene gene with protein product 142580 HLA-B associated transcript 2 BAT2 NA 2156268, 8499947 Standard NM_080686 NM_080686 NA Approved G2, D6S51E uc003nvc.4 P48634 OTTHUMG00000031168 ENST00000376033.2:c.4319+51A>G chr6.hg19:g.31600820A>G NA B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6 hg19 CCDS4708.1 0.02 2.309001 GGGxAAA COVERED NOVEL PRRC2A-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000259319.1 0 8.723096 KEEP 0 0 0 29 840 AA 0.999997 0.994419 0 + 6 60 199 0 0 14.124298 60 60 2062 112 ENST00000376033.2 0.090909 0.994422 PRRC2A 7916 __UNKNOWN__ __UNKNOWN__ 6 31604591 31604591 __UNKNOWN__ Missense_Mutation SNP C C T rs10885 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:31604591C>T ENST00000376033.2 + 28 6250 c.6016C>T c.(6016-6018)Ccc>Tcc p.P2006S PRRC2A_ENST00000376007.4_Missense_Mutation_p.P2006S NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A 2006 3 X 50 AA type C repeats. NA P -> S (in dbSNP:rs10885). {ECO:0000269|PubMed:14574404}. cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634) poly(A) RNA binding (GO:0044822) breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 TGCCCCACCTCCCCTTTCTCT 0.622 NA C||| 668 0.133387 0.2126 0.0793 5008 , , NA 15995 0.0714 NA 0.1461 False NA ,,, NA NA NA 2504 0.1155 NA NA NA NA 0 C SER/PRO,SER/PRO 590,2424 59,472,976 132 170 156 6016,6016 5.3 1 6 dbSNP_52 156 955,4459 93,769,1845 yes missense,missense PRRC2A NM_004638.3,NM_080686.2 74,74 152,1241,2821 TT,TC,CC 17.6395,19.5753,18.3318 probably-damaging,probably-damaging 2006/2158,2006/2158 31604591 1545,6883 1507 2707 4214 SO:0001583 missense M31293 CCDS4708.1 6p21.3 2010-12-09 2010-12-09 2010-12-09 ENSG00000204469 ENSG00000204469 7916 13918 protein-coding gene gene with protein product 142580 HLA-B associated transcript 2 BAT2 NA 2156268, 8499947 Standard NM_080686 NM_080686 NA Approved G2, D6S51E uc003nvc.4 P48634 OTTHUMG00000031168 ENST00000376033.2:c.6016C>T chr6.hg19:g.31604591C>T ENSP00000365201:p.Pro2006Ser NA B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6 hg19 CCDS4708.1 0.02 12.848147 CCTxCCC COVERED 286 0.13095238095238096 112 0.22764227642276422 30 0.08287292817679558 33 0.057692307692307696 111 0.14643799472295516 C 12.65 2.002477 0.35320 0.195753 0.176395 ENSG00000204469 ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033;ENST00000376010 T;T 0.01767 4.65;4.65 5.28 5.28 0.74379 . 0.000000 0.56097 D 0.000029 T 0.02156 0.0067 N 0.19112 0.55 0.26717 P 0.9708672 D 0.55172 0.97 P 0.57244 0.816 T 0.64266 -0.6448 9 0.87932 D 0 -9.7066 17.8506 0.88746 0.0:1.0:0.0:0.0 rs10885;rs1046121;rs3173341;rs3817660;rs17207260;rs17342597;rs17354298;rs10885 2006 P48634 PRC2A_HUMAN S 1998;1987;2006;2006;1231 ENSP00000365175:P2006S;ENSP00000365201:P2006S ENSP00000365175:P2006S P + 1 0 PRRC2A 31712570 0.553000 0.26513 0.968000 0.41197 0.994000 0.84299 3.080000 0.50112 2.747000 0.94245 0.643000 0.83706 CCC NOVEL PRRC2A-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000259319.1 3 32.924732 KEEP 0 1 30 120 4205 CC 1 1 0 + 13 60 433 0 0 24.697787 383 60 14174 633 ENST00000376033.2 0.032828 1 BAG6 7917 __UNKNOWN__ __UNKNOWN__ 6 31609272 31609272 __UNKNOWN__ Intron SNP T T C rs3130628 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:31609272T>C ENST00000211379.5 - 17 2746 BAG6_ENST00000439687.2_Intron|BAG6_ENST00000404765.2_Intron|BAG6_ENST00000375976.4_Intron|BAG6_ENST00000375964.6_Intron|BAG6_ENST00000362049.6_Intron NM_080702.2 NP_542433.1 P46379 BAG6_HUMAN BCL2-associated athanogene 6 NA NA brain development (GO:0007420)|cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|embryo development (GO:0009790)|immune system process (GO:0002376)|internal peptidyl-lysine acetylation (GO:0018393)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|lung development (GO:0030324)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of proteolysis (GO:0045861)|protein stabilization (GO:0050821)|regulation of cell proliferation (GO:0042127)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)|ubiquitin-dependent protein catabolic process (GO:0006511) BAT3 complex (GO:0071818)|cytosol (GO:0005829)|nucleus (GO:0005634) polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625) breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2) 36 GCAGCTGCCTTGACCAGACCC 0.502 NA T||| 712 0.142173 0.2436 0.0836 5008 , , NA 18823 0.0714 NA 0.1461 False NA ,,, NA NA NA 2504 0.1155 NA NA NA NA 0 T ,,,,, 982,3424 369.8+/-319.3 106,770,1327 114 119 118 ,,,,, -2.7 0 6 dbSNP_103 118 1542,7058 289.8+/-299.5 146,1250,2904 no intron,intron,intron,intron,intron,intron BAG6 NM_001098534.1,NM_001199697.1,NM_001199698.1,NM_004639.3,NM_080702.2,NM_080703.2 ,,,,, 252,2020,4231 CC,CT,TT 17.9302,22.2878,19.4064 ,,,,, ,,,,, 31609272 2524,10482 2203 4300 6503 SO:0001627 intron_variant M31294 CCDS4709.1, CCDS47403.1, CCDS56414.1, CCDS56415.1 6p21.3 2011-06-14 2010-12-09 2010-12-09 ENSG00000204463 ENSG00000204463 7917 13919 protein-coding gene gene with protein product 142590 HLA-B associated transcript 3 BAT3 NA 2156268 Standard NM_080703 NM_004639 NA Approved G3, D6S52E uc003nvf.4 P46379 OTTHUMG00000031171 ENST00000211379.5:c.2451+43A>G chr6.hg19:g.31609272T>C NA A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4 hg19 CCDS4709.1 0.02 8.048443 CCTxGAC COVERED NOVEL BAG6-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000076322.3 1 16.683567 KEEP 0 1 33 67 2058 TT 1 1 0 - 9 60 285 0 0 16.315982 231 60 8350 356 ENST00000211379.5 0.0375 1 BAG6 7917 __UNKNOWN__ __UNKNOWN__ 6 31619576 31619576 __UNKNOWN__ Intron SNP A A G rs3117583 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:31619576A>G ENST00000211379.5 - 2 282 BAG6_ENST00000439687.2_Intron|BAG6_ENST00000404765.2_Intron|BAG6_ENST00000375976.4_Intron|BAG6_ENST00000375964.6_Intron|BAG6_ENST00000362049.6_Intron NM_080702.2 NP_542433.1 P46379 BAG6_HUMAN BCL2-associated athanogene 6 NA NA brain development (GO:0007420)|cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|embryo development (GO:0009790)|immune system process (GO:0002376)|internal peptidyl-lysine acetylation (GO:0018393)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|lung development (GO:0030324)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of proteolysis (GO:0045861)|protein stabilization (GO:0050821)|regulation of cell proliferation (GO:0042127)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)|ubiquitin-dependent protein catabolic process (GO:0006511) BAT3 complex (GO:0071818)|cytosol (GO:0005829)|nucleus (GO:0005634) polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625) breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2) 36 GAAGGAAGGAAGGCCCGCTGT 0.517 NA A||| 668 0.133387 0.2126 0.0793 5008 , , NA 17476 0.0714 NA 0.1461 False NA ,,, NA NA NA 2504 0.1155 NA NA NA NA 0 A ,,,,, 590,2432 59,472,980 71 54 61 ,,,,, -1 0 6 dbSNP_103 61 948,4470 93,762,1854 yes intron,intron,intron,intron,intron,intron BAG6 NM_001098534.1,NM_001199697.1,NM_001199698.1,NM_004639.3,NM_080702.2,NM_080703.2 ,,,,, 152,1234,2834 GG,GA,AA 17.4972,19.5235,18.2227 ,,,,, ,,,,, 31619576 1538,6902 1511 2709 4220 SO:0001627 intron_variant M31294 CCDS4709.1, CCDS47403.1, CCDS56414.1, CCDS56415.1 6p21.3 2011-06-14 2010-12-09 2010-12-09 ENSG00000204463 ENSG00000204463 7917 13919 protein-coding gene gene with protein product 142590 HLA-B associated transcript 3 BAT3 NA 2156268 Standard NM_080703 NM_004639 NA Approved G3, D6S52E uc003nvf.4 P46379 OTTHUMG00000031171 ENST00000211379.5:c.13-23T>C chr6.hg19:g.31619576A>G NA A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4 hg19 CCDS4709.1 0.02 4.053073 GGAxGGC COVERED NOVEL BAG6-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000076322.3 4 21.898203 KEEP 0 1 38 86 2661 AA 1 1 0 - 5 60 187 0 0 11.919151 123 60 4505 252 ENST00000211379.5 0.039062 1 C6orf47 57827 __UNKNOWN__ __UNKNOWN__ 6 31626561 31626561 __UNKNOWN__ 3'UTR SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:31626561C>T ENST00000375911.1 - 0 1988 C6orf47-AS1_ENST00000422049.1_RNA NM_021184.3 NP_067007.3 O95873 CF047_HUMAN chromosome 6 open reading frame 47 NA NA cytoplasm (GO:0005737) NS(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)|skin(1) 9 TTTTTTTTTGCTTTTAAAAAG 0.408 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF129756 CCDS34399.1 6p21.3 2011-12-13 ENSG00000204439 ENSG00000204439 57827 19076 protein-coding gene gene with protein product NA 2477242 Standard NM_021184 NM_021184 NA Approved D6S53E, G4 uc003nvm.1 O95873 OTTHUMG00000031172 ENST00000375911.1:c.*279G>A chr6.hg19:g.31626561C>T NA B0UXA1|B0UZ50|Q5SSS6|Q95IG0 hg19 CCDS34399.1 0.02 2.33522 TTGxTTT COVERED NOVEL C6orf47-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076324.1 0 5.495068 KEEP 0 2 27 29 736 CC 0.999997 0.999997 0 - 9 60 183 1 0 9.290917 105 60 3120 189 ENST00000375911.1 0.078947 1 GPANK1 7918 __UNKNOWN__ __UNKNOWN__ 6 31629096 31629096 __UNKNOWN__ 3'UTR SNP T T C rs707920 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:31629096T>C ENST00000375906.1 - 0 2702 NM_001199237.1 NP_001186166.1 O95872 GPAN1_HUMAN G patch domain and ankyrin repeats 1 NA NA nucleic acid binding (GO:0003676) central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(7) 12 ATCGTGGGCCTTCCTATCACA 0.433 NA T||| 2056 0.410543 0.6127 0.4078 5008 , , NA 18037 0.3681 NA 0.2952 False NA ,,, NA NA NA 2504 0.3016 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS4711.1 6p21.3 2013-01-28 2010-11-24 2010-11-24 ENSG00000204438 ENSG00000204438 7918 Ankyrin repeat domain containing, G patch domain containing 13920 protein-coding gene gene with protein product G patch domain containing 10, ankyrin repeat domain 59 142610 HLA-B associated transcript 4 BAT4 NA 2911734, 2813433 Standard NM_033177 NM_001199237 NA Approved G5, D6S54E, GPATCH10, ANKRD59 uc021yuu.1 O95872 OTTHUMG00000031174 ENST00000375906.1:c.*947A>G chr6.hg19:g.31629096T>C NA A6NG25|B0UXA2|Q5SQ49 hg19 CCDS4711.1 0.02 5.180206 GCCxTCC COVERED NOVEL GPANK1-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000144445.2 0 18.790199 KEEP 0 1 27 72 2321 TT 1 0.999973 0 - 6 60 228 0 0 15.756491 96 60 3565 244 ENST00000375906.1 0.058824 0.999973 CSNK2B-LY6G5B-1181 0 __UNKNOWN__ __UNKNOWN__ 6 31634570 31634570 __UNKNOWN__ Intron SNP A A C rs9267529 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:31634570A>C ENST00000375880.2 + 2 107 CSNK2B_ENST00000375865.2_Intron|CSNK2B_ENST00000375882.2_Intron|CSNK2B_ENST00000375866.2_Intron|CSNK2B_ENST00000375885.4_Intron NA NA NA GGAGAACTTGAGCTTTACTGA 0.517 NA A||| 538 0.107428 0.1823 0.0576 5008 , , NA 17464 0.0714 NA 0.0716 False NA ,,, NA NA NA 2504 0.1155 NA NA NA NA 0 A 682,3724 285.7+/-278.4 56,570,1577 190 164 173 2.6 0 6 dbSNP_118 173 611,7989 158.8+/-212.2 23,565,3712 no intron CSNK2B NM_001320.5 79,1135,5289 CC,CA,AA 7.1047,15.4789,9.9416 31634570 1293,11713 2203 4300 6503 SO:0001627 intron_variant NA NA NA NA ENST00000375880.2:c.-11-28A>C chr6.hg19:g.31634570A>C NA hg19 0.02 16.409664 TTGxGCT COVERED NOVEL CSNK2B-LY6G5B-1181-001 PUTATIVE basic|appris_principal|readthrough_transcript|exp_conf protein_coding NA protein_coding OTTHUMT00000124391.5 5 66.694029 KEEP 0 3 74 248 7812 AA 1 1 0 + 14 60 486 0 0 28.465786 419 60 14960 880 ENST00000375880.2 0.032333 1 CSNK2B-LY6G5B-1181 0 __UNKNOWN__ __UNKNOWN__ 6 31637807 31637807 __UNKNOWN__ Intron SNP C C T rs4569 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:31637807C>T ENST00000375880.2 + 6 675 CSNK2B_ENST00000375865.2_3'UTR|CSNK2B_ENST00000375882.2_3'UTR|CSNK2B_ENST00000375866.2_3'UTR|CSNK2B_ENST00000375885.4_3'UTR NA NA NA GAGTCGTTATCGTGGTGGGAA 0.463 NA T||| 2008 0.400958 0.5787 0.4035 5008 , , NA 17036 0.3681 NA 0.2952 False NA ,,, NA NA NA 2504 0.3016 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000375880.2:c.557+522C>T chr6.hg19:g.31637807C>T NA hg19 0.02 19.406833 TATxGTG COVERED NOVEL CSNK2B-LY6G5B-1181-001 PUTATIVE basic|appris_principal|readthrough_transcript|exp_conf protein_coding NA protein_coding OTTHUMT00000124391.5 4 38.691876 KEEP 0 2 61 150 5140 CC 1 1 0 + 15 60 560 0 0 34.409458 449 60 15193 778 ENST00000375880.2 0.032328 1 CSNK2B-LY6G5B-1181 0 __UNKNOWN__ __UNKNOWN__ 6 31639129 31639129 __UNKNOWN__ Intron SNP G G A rs2142234 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:31639129G>A ENST00000375880.2 + 7 804 LY6G5B_ENST00000375864.4_Intron|LY6G5B_ENST00000409525.1_Intron NA NA NA TCCTCTCACAGATCAGGGCTG 0.567 NA G||| 538 0.107428 0.1815 0.0591 5008 , , NA 17282 0.0714 NA 0.0716 False NA ,,, NA NA NA 2504 0.1155 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000375880.2:c.684+68G>A chr6.hg19:g.31639129G>A NA hg19 0.02 6.067728 ACAxATC COVERED NOVEL CSNK2B-LY6G5B-1181-001 PUTATIVE basic|appris_principal|readthrough_transcript|exp_conf protein_coding NA protein_coding OTTHUMT00000124391.5 1 6.6525 KEEP 0 1 31 33 1050 GG 0.999998 0.999998 0 + 6 60 219 0 0 13.329137 175 60 6542 228 ENST00000375880.2 0.033149 1 CSNK2B-LY6G5B-1181 0 __UNKNOWN__ __UNKNOWN__ 6 31639979 31639979 __UNKNOWN__ 3'UTR SNP C C T rs9267532 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:31639979C>T ENST00000375880.2 + 0 1143 LY6G5B_ENST00000375864.4_Missense_Mutation_p.R176C|LY6G5B_ENST00000409525.1_Missense_Mutation_p.R121C NA NA NA TGCTGAGCTGCGCCGCATGTA 0.547 NA c||| 397 0.0792732 0.1036 0.0447 5008 , , NA 20366 0.0565 NA 0.0666 False NA ,,, NA NA NA 2504 0.1074 NA NA NA NA 0 T CYS/ARG 289,2733 17,255,1239 121 111 114 526 2.9 0.4 6 dbSNP_118 114 378,5040 13,352,2344 yes missense LY6G5B NM_021221.2 180 30,607,3583 TT,TC,CC 6.9767,9.5632,7.9028 probably-damaging 176/202 31639979 667,7773 1511 2709 4220 SO:0001624 3_prime_UTR_variant NA NA NA NA ENST00000375880.2:c.*338C>T chr6.hg19:g.31639979C>T NA hg19 0.02 15.894175 CTGxGCC COVERED 153 0.07005494505494506 51 0.10365853658536585 17 0.04696132596685083 33 0.057692307692307696 52 0.06860158311345646 c 6.314 0.426030 0.11987 0.095632 0.069767 ENSG00000240053 ENST00000409691;ENST00000375864;ENST00000409525 T;T 0.27557 1.67;1.66 3.79 2.92 0.33932 . . . . . T 0.22551 0.0544 L 0.32530 0.975 . . . D 0.89917 1.0 P 0.60886 0.88 T 0.05582 -1.0876 8 0.56958 D 0.05 -11.6129 7.5746 0.27928 0.0:0.8811:0.0:0.1189 rs9267532;rs57853456;rs9267532 176 Q8NDX9 LY65B_HUMAN C 173;176;121 ENSP00000365024:R176C;ENSP00000386365:R121C ENSP00000365024:R176C R + 1 0 LY6G5B 31747958 0.498000 0.26075 0.416000 0.26546 0.292000 0.27327 0.568000 0.23623 0.959000 0.37980 -0.355000 0.07637 CGC NOVEL CSNK2B-LY6G5B-1181-001 PUTATIVE basic|appris_principal|readthrough_transcript|exp_conf protein_coding NA protein_coding OTTHUMT00000124391.5 1 22.288024 KEEP 0 1 25 83 2822 CC 1 1 0 + 11 60 394 0 0 22.384192 424 60 15336 576 ENST00000375880.2 0.025287 1 CSNK2B-LY6G5B-1181 0 __UNKNOWN__ __UNKNOWN__ 6 31640518 31640518 __UNKNOWN__ 3'UTR SNP T T G rs1266076 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:31640518T>G ENST00000375880.2 + 0 1682 LY6G5B_ENST00000375864.4_3'UTR|LY6G5B_ENST00000471088.1_Intron NA NA NA actgtgcctgTCTGAGCTCTG 0.547 NA G||| 2201 0.439497 0.6445 0.4294 5008 , , NA 17472 0.373 NA 0.3718 False NA ,,, NA NA NA 2504 0.3078 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant NA NA NA NA ENST00000375880.2:c.*877T>G chr6.hg19:g.31640518T>G NA hg19 0.02 4.487538 CTGxCTG COVERED NOVEL CSNK2B-LY6G5B-1181-001 PUTATIVE basic|appris_principal|readthrough_transcript|exp_conf protein_coding NA protein_coding OTTHUMT00000124391.5 3 9.024842 KEEP 0 0 0 30 907 TT 0.999997 0.999997 0 + 6 60 211 0 0 13.537081 118 60 4118 167 ENST00000375880.2 0.048387 0.999999 LY6G5C 80741 __UNKNOWN__ __UNKNOWN__ 6 31649149 31649149 __UNKNOWN__ 5'UTR SNP C C G rs9267535 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:31649149C>G ENST00000474395.1 - 0 104 LY6G5C_ENST00000375860.2_Intron Q5SRR4 LY65C_HUMAN lymphocyte antigen 6 complex, locus G5C NA NA extracellular region (GO:0005576) endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 7 GGTGGCCCCCCGCTCAAGCTC 0.697 NA C||| 545 0.108826 0.1876 0.0562 5008 , , NA 14613 0.0714 NA 0.0726 False NA ,,, NA NA NA 2504 0.1155 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant CCDS34401.1, CCDS34401.2 6p21 2010-02-17 2002-07-29 2002-08-01 ENSG00000204428 ENSG00000204428 80741 13932 protein-coding gene gene with protein product 610434 chromosome 6 open reading frame 20 C6orf20 NA 12079290 Standard NM_025262 NA Approved G5c, NG33 uc003nvu.2 Q5SRR4 OTTHUMG00000031228 ENST00000474395.1:c.-732G>C chr6.hg19:g.31649149C>G NA A6NCW4|B0UXB3|B0UXB4|B0UZ69|B0UZQ0|B1B0L9|O95871|Q5SQ59|Q8NDY0|Q8NDY1 hg19 0.02 6.132528 CCCxGCT COVERED NOVEL LY6G5C-008 KNOWN basic processed_transcript NA protein_coding OTTHUMT00000127866.2 0 48.362824 KEEP 0 0 0 161 5473 CC 1 1 0 - 6 60 212 0 0 12.589627 178 60 6356 468 ENST00000474395.1 0.032609 1 MEGT1 0 __UNKNOWN__ __UNKNOWN__ 6 31679465 31679465 __UNKNOWN__ Intron SNP G G C rs805285 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:31679465G>C ENST00000503322.1 + 4 805 XXbac-BPG32J3.20_ENST00000461287.1_Intron|LY6G6F_ENST00000556581.1_Intron NA NA NA TCACCTAAAGGCTTCAGGCTG 0.517 NA C||| 2296 0.458466 0.6914 0.4121 5008 , , NA 19351 0.3819 NA 0.2853 False NA ,,, NA NA NA 2504 0.4335 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000503322.1:c.802+1507G>C chr6.hg19:g.31679465G>C NA hg19 0.02 4.291239 AAGxCTT COVERED NOVEL MEGT1-001 PUTATIVE basic|appris_principal|readthrough_transcript|exp_conf protein_coding NA protein_coding OTTHUMT00000368113.1 1 4.150464 KEEP 0 1 38 27 962 GG 0.999997 0.999965 0 + 5 60 170 0 0 10.773628 95 60 3467 169 ENST00000503322.1 0.05 0.999968 LY6G6C 80740 __UNKNOWN__ __UNKNOWN__ 6 31686497 31686497 __UNKNOWN__ 3'UTR SNP G G A rs15574 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:31686497G>A ENST00000375819.2 - 0 919 LY6G6C_ENST00000495859.1_3'UTR NM_025261.2 NP_079537.1 O95867 LY66C_HUMAN lymphocyte antigen 6 complex, locus G6C NA NA anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886) NS(1)|large_intestine(1)|lung(1)|skin(1) 4 GGGAGCCTGGGTTTGGGGAGT 0.478 NA g||| 1677 0.334864 0.5234 0.3386 5008 , , NA 18362 0.2222 NA 0.2515 False NA ,,, NA NA NA 2504 0.2791 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS4714.1 6p21 2008-08-29 2002-07-29 2002-08-01 ENSG00000204421 ENSG00000204421 80740 13936 protein-coding gene gene with protein product 610435 chromosome 6 open reading frame 24 C6orf24 NA 10384126, 12079290 Standard NM_025261 NA Approved G6c, NG24 uc003nwh.3 O95867 OTTHUMG00000031251 ENST00000375819.2:c.*376C>T chr6.hg19:g.31686497G>A NA Q5SRS8|Q8IY94 hg19 CCDS4714.1 0.02 4.595964 TGGxTTT COVERED NOVEL LY6G6C-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076530.2 1 8.427568 KEEP 0 0 0 28 1004 GG 0.999997 0.999996 0 - 5 60 188 0 0 12.107446 118 60 4341 183 ENST00000375819.2 0.04065 0.999999 LY6G6C 80740 __UNKNOWN__ __UNKNOWN__ 6 31687008 31687008 __UNKNOWN__ Silent SNP G G A rs1065356 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:31687008G>A ENST00000375819.2 - 3 408 c.243C>T c.(241-243)cgC>cgT p.R81R LY6G6C_ENST00000495859.1_Silent_p.R25R NM_025261.2 NP_079537.1 O95867 LY66C_HUMAN lymphocyte antigen 6 complex, locus G6C 81 UPAR/Ly6. NA anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886) NS(1)|large_intestine(1)|lung(1)|skin(1) 4 GACCCAGCTTGCGGTTGGTTT 0.577 NA g||| 1610 0.321486 0.5144 0.3012 5008 , , NA 19313 0.1935 NA 0.2525 False NA ,,, NA NA NA 2504 0.2781 NA NA NA NA 0 2069,2337 572.6+/-383.4 484,1101,618 162 146 151 243 2.4 0.8 6 dbSNP_86 151 1863,6737 331.4+/-319.6 219,1425,2656 no coding-synonymous LY6G6C NM_025261.2 703,2526,3274 AA,AG,GG 21.6628,46.9587,30.2322 81/126 31687008 3932,9074 2203 4300 6503 SO:0001819 synonymous_variant CCDS4714.1 6p21 2008-08-29 2002-07-29 2002-08-01 ENSG00000204421 ENSG00000204421 80740 13936 protein-coding gene gene with protein product 610435 chromosome 6 open reading frame 24 C6orf24 NA 10384126, 12079290 Standard NM_025261 NA Approved G6c, NG24 uc003nwh.3 O95867 OTTHUMG00000031251 ENST00000375819.2:c.243C>T chr6.hg19:g.31687008G>A NA Q5SRS8|Q8IY94 hg19 CCDS4714.1 0.02 12.081979 CTTxCGG COVERED NOVEL LY6G6C-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076530.2 3 24.078909 KEEP 0 0 0 80 2879 GG 1 1 0 - 12 60 406 0 0 23.909526 324 60 12244 515 ENST00000375819.2 0.035714 1 DDAH2 23564 __UNKNOWN__ __UNKNOWN__ 6 31697387 31697387 __UNKNOWN__ 5'UTR SNP C C G rs805305 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:31697387C>G ENST00000375789.2 - 0 182 DDAH2_ENST00000375792.3_Intron|DDAH2_ENST00000480913.1_Intron|DDAH2_ENST00000375787.2_Intron O95865 DDAH2_HUMAN dimethylarginine dimethylaminohydrolase 2 NA NA arginine catabolic process (GO:0006527)|citrulline metabolic process (GO:0000052)|negative regulation of apoptotic process (GO:0043066)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of nitric oxide biosynthetic process (GO:0045429) extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739) amino acid binding (GO:0016597)|catalytic activity (GO:0003824)|dimethylargininase activity (GO:0016403) endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 11 L-Citrulline(DB00155) GTCCAGCCCGCGACCCGCAGG 0.617 NA G||| 2519 0.502995 0.7746 0.451 5008 , , NA 15192 0.3889 NA 0.3608 False NA ,,, NA NA NA 2504 0.4366 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF070667 CCDS4718.1 6p21 2010-02-17 ENSG00000213722 ENSG00000213722 23564 3.5.3.18 2716 protein-coding gene gene with protein product 604744 NA 10493931 Standard XM_005248974 NA Approved uc003nwq.3 O95865 OTTHUMG00000031212 ENST00000375789.2:c.-449G>C chr6.hg19:g.31697387C>G NA A2BEZ7 hg19 CCDS4718.1 0.02 5.609214 CCGxGAC COVERED NOVEL DDAH2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076432.2 1 33.611752 KEEP 0 3 110 150 5125 CC 1 1 0 - 7 60 244 0 0 14.765169 181 60 6387 428 ENST00000375789.2 0.037234 1 MSH5 4439 __UNKNOWN__ __UNKNOWN__ 6 31710968 31710968 __UNKNOWN__ Intron SNP T T A rs707915 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:31710968T>A ENST00000375703.3 + 5 470 MSH5_ENST00000375740.3_Intron|MSH5_ENST00000375755.3_Intron|MSH5_ENST00000482280.1_Intron|MSH5_ENST00000375742.3_Intron|MSH5_ENST00000534153.4_Intron|MSH5_ENST00000375750.3_Intron|MSH5-SAPCD1_ENST00000493662.2_Intron O43196 MSH5_HUMAN mutS homolog 5 NA NA ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|reciprocal meiotic recombination (GO:0007131) synaptonemal complex (GO:0000795) ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983) breast(1)|ovary(2)|skin(2) 5 CCTTTTGCTTTGCCTAACTCC 0.483 NA Direct reversal of damage;Mismatch excision repair (MMR) T||| 599 0.119609 0.2375 0.0648 5008 , , NA 20924 0.0625 NA 0.0696 False NA ,,, NA NA NA 2504 0.1094 NA NA NA NA 0 T ,,, 606,2416 61,484,966 114 113 113 ,,, 4.2 0 6 dbSNP_86 113 375,5043 12,351,2346 yes intron,intron,intron,intron MSH5 NM_002441.4,NM_025259.5,NM_172165.3,NM_172166.3 ,,, 73,835,3312 AA,AT,TT 6.9214,20.0529,11.6232 ,,, ,,, 31710968 981,7459 1511 2709 4220 SO:0001627 intron_variant AF070071 CCDS4720.1, CCDS34409.1, CCDS34410.1, CCDS34409.2 6p21.3 2013-09-12 2013-09-12 ENSG00000204410 ENSG00000204410 4439 7328 protein-coding gene gene with protein product 603382 mutS (E. coli) homolog 5, mutS homolog 5 (E. coli) NA 9740671, 9787078, 17977839 Standard NM_002441 NA Approved uc011hbg.2 O43196 OTTHUMG00000167551 ENST00000375703.3:c.415+21T>A chr6.hg19:g.31710968T>A NA B0V033|B0V034|O60586|Q5BLU9|Q5SSR1|Q8IW44|Q9BQC7 hg19 CCDS34410.1 0.02 29.863017 CTTxGCC COVERED NOVEL MSH5-004 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000268160.1 4 37.777645 KEEP 0 2 61 147 4537 TT 1 1 0 + 26 60 968 0 0 61.488031 644 60 23636 1045 ENST00000375703.3 0.038806 1 MSH5 4439 __UNKNOWN__ __UNKNOWN__ 6 31729359 31729359 __UNKNOWN__ Silent SNP A A G rs707938 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:31729359A>G ENST00000375703.3 + 22 2206 c.2151A>G c.(2149-2151)caA>caG p.Q717Q MSH5_ENST00000375740.3_Silent_p.Q734Q|MSH5_ENST00000375742.3_Silent_p.Q733Q|MSH5_ENST00000395853.1_Silent_p.Q390Q|MSH5_ENST00000375755.3_Silent_p.Q716Q|MSH5_ENST00000375750.3_Silent_p.Q716Q|MSH5_ENST00000534153.4_Silent_p.Q733Q|MSH5-SAPCD1_ENST00000491552.1_3'UTR|MSH5_ENST00000431848.2_Silent_p.Q415Q|MSH5-SAPCD1_ENST00000493662.2_Silent_p.Q733Q O43196 MSH5_HUMAN mutS homolog 5 716 NA ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|reciprocal meiotic recombination (GO:0007131) synaptonemal complex (GO:0000795) ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983) breast(1)|ovary(2)|skin(2) 5 TTCAGCTACAACTGCTGCCAC 0.607 NA Direct reversal of damage;Mismatch excision repair (MMR) G||| 2340 0.467252 0.6929 0.4236 5008 , , NA 17393 0.3512 NA 0.3191 False NA ,,, NA NA NA 2504 0.4652 NA NA NA NA 0 G ,,, 2847,1559 925,997,281 47 53 51 2148,2202,2151,2148 2.6 1 6 dbSNP_86 51 2724,5876 455,1814,2031 yes coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous MSH5 NM_002441.4,NM_025259.5,NM_172165.3,NM_172166.3 ,,, 1380,2811,2312 GG,GA,AA 31.6744,35.3836,42.8341 ,,, 716/835,734/823,717/836,716/835 31729359 5571,7435 2203 4300 6503 SO:0001819 synonymous_variant AF070071 CCDS4720.1, CCDS34409.1, CCDS34410.1, CCDS34409.2 6p21.3 2013-09-12 2013-09-12 ENSG00000204410 ENSG00000204410 4439 7328 protein-coding gene gene with protein product 603382 mutS (E. coli) homolog 5, mutS homolog 5 (E. coli) NA 9740671, 9787078, 17977839 Standard NM_002441 NA Approved uc011hbg.2 O43196 OTTHUMG00000167551 ENST00000375703.3:c.2151A>G chr6.hg19:g.31729359A>G NA B0V033|B0V034|O60586|Q5BLU9|Q5SSR1|Q8IW44|Q9BQC7 hg19 CCDS34410.1 0.02 5.148223 ACAxCTG COVERED NOVEL MSH5-004 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000268160.1 2 9.88162 KEEP 0 0 0 33 982 AA 0.999998 0.999995 0 + 6 60 227 0 0 15.290323 111 60 3940 189 ENST00000375703.3 0.051282 0.999998 VWA7 80737 __UNKNOWN__ __UNKNOWN__ 6 31733650 31733650 __UNKNOWN__ Intron SNP G G A rs707936 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:31733650G>A ENST00000375688.4 - 16 2700 VWA7_ENST00000375686.3_Missense_Mutation_p.H837Y Q9Y334 VWA7_HUMAN von Willebrand factor A domain containing 7 NA NA extracellular region (GO:0005576) NA GGAAAGTAGTGGTTCCTCACC 0.587 NA G||| 595 0.11881 0.2352 0.0648 5008 , , NA 17687 0.0615 NA 0.0706 False NA ,,, NA NA NA 2504 0.1084 NA NA NA NA 0 G 604,2418 60,484,967 97 96 96 -1.8 0 6 dbSNP_86 96 375,5043 12,351,2346 yes intron C6orf27 NM_025258.2 72,835,3313 AA,AG,GG 6.9214,19.9868,11.5995 31733650 979,7461 1511 2709 4220 SO:0001627 intron_variant CCDS4721.2 6p21 2011-12-13 2011-12-13 2011-12-13 ENSG00000204396 ENSG00000204396 80737 13939 protein-coding gene gene with protein product 609693 chromosome 6 open reading frame 27 C6orf27 NA Standard NM_025258 NM_025258 NA Approved G7c, NG37 uc011dog.2 Q9Y334 OTTHUMG00000031132 ENST00000375688.4:c.2499+9C>T chr6.hg19:g.31733650G>A NA A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9 hg19 CCDS4721.2 0.02 13.3774 AGTxGTT COVERED 209 0.09569597069597069 98 0.1991869918699187 26 0.0718232044198895 33 0.057692307692307696 52 0.06860158311345646 G 6.600 0.479113 0.12581 0.199868 0.069214 ENSG00000204396 ENST00000375686 T 0.13901 2.55 4.34 -1.79 0.07932 . . . . . T 0.03390 0.0098 . . . 0.58432 P 1.999999999946489E-6 . . . . . . T 0.42699 -0.9436 5 0.56958 D 0.05 . 0.6241 0.00783 0.372:0.1691:0.2872:0.1717 rs707936;rs6916963;rs707936 . . . Y 837 ENSP00000364838:H837Y ENSP00000364838:H837Y H - 1 0 C6orf27 31841629 0.000000 0.05858 0.000000 0.03702 0.015000 0.08874 -0.630000 0.05502 -0.472000 0.06881 -1.002000 0.02502 CAC NOVEL VWA7-001 NOVEL not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076233.2 0 22.631709 KEEP 0 2 47 92 3203 GG 1 1 0 - 12 60 439 0 0 27.720962 290 60 10795 483 ENST00000375688.4 0.039735 1 VWA7 80737 __UNKNOWN__ __UNKNOWN__ 6 31744171 31744171 __UNKNOWN__ Intron SNP T T A rs527654696 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:31744171T>A ENST00000375688.4 - 2 435 VWA7_ENST00000447450.1_Intron|VWA7_ENST00000467576.1_Intron|VWA7_ENST00000375686.3_Intron Q9Y334 VWA7_HUMAN von Willebrand factor A domain containing 7 NA NA extracellular region (GO:0005576) NA GGAGGGGGACTCCTAATTTCA 0.562 NA T||| 11 0.00219649 0.0 0.0 5008 , , NA 16455 0.0109 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS4721.2 6p21 2011-12-13 2011-12-13 2011-12-13 ENSG00000204396 ENSG00000204396 80737 13939 protein-coding gene gene with protein product 609693 chromosome 6 open reading frame 27 C6orf27 NA Standard NM_025258 NM_025258 NA Approved G7c, NG37 uc011dog.2 Q9Y334 OTTHUMG00000031132 ENST00000375688.4:c.234+151A>T chr6.hg19:g.31744171T>A NA A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9 hg19 CCDS4721.2 0.02 3.853583 GACxCCT COVERED NOVEL VWA7-001 NOVEL not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076233.2 3 5.114237 KEEP 0 0 0 17 519 TT 0.999366 0.999366 0 - 7 60 245 0 0 16.055222 121 60 4343 150 ENST00000375688.4 0.054687 1 SLC44A4 80736 __UNKNOWN__ __UNKNOWN__ 6 31843926 31843926 __UNKNOWN__ Intron SNP G G A rs116505024 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:31843926G>A ENST00000229729.6 - 3 110 SLC44A4_ENST00000375562.4_Intron|SLC44A4_ENST00000544672.1_Intron|SLC44A4_ENST00000465707.1_Intron NM_025257.2 NP_079533.2 Q53GD3 CTL4_HUMAN solute carrier family 44, member 4 NA NA acetylcholine biosynthetic process (GO:0008292)|acetylcholine secretion (GO:0061526)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of cell growth (GO:0030307)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2) 35 Choline(DB00122) AAACGAAACGGGAGGCTGAGC 0.527 NA G||| 102 0.0203674 0.0129 0.0014 5008 , , NA 17689 0.0099 NA 0.001 False NA ,,, NA NA NA 2504 0.0746 NA NA NA NA 0 G ,, 53,4353 54.2+/-90.2 0,53,2150 59 52 54 ,, -1.9 0 6 dbSNP_132 54 3,8597 3.0+/-9.4 0,3,4297 no intron,intron,intron SLC44A4 NM_001178044.1,NM_001178045.1,NM_025257.2 ,, 0,56,6447 AA,AG,GG 0.0349,1.2029,0.4306 ,, ,, 31843926 56,12950 2203 4300 6503 SO:0001627 intron_variant AF134726 CCDS4724.2, CCDS54989.1, CCDS54990.1 6p21.3 2014-02-17 2005-09-06 2005-09-06 ENSG00000204385 ENSG00000204385 80736 Solute carriers 13941 protein-coding gene gene with protein product 606107 chromosome 6 open reading frame 29 C6orf29 NA 10677542, 15715662, 24379411 Standard NM_025257 NA Approved NG22, CTL4, FLJ14491, TPPT uc010jti.3 Q53GD3 OTTHUMG00000031133 ENST00000229729.6:c.90-20C>T chr6.hg19:g.31843926G>A NA A2BED3|B0UXX8|B0UZY8|B4DU94|B4DWM2|E9PEK7|Q5JP84|Q5JQ93|Q658S8|Q6UX89|Q8TEW4|Q96C58|Q96K59|Q9Y332 hg19 CCDS4724.2 0.02 10.695357 ACGxGAG COVERED NOVEL SLC44A4-001 KNOWN non_canonical_conserved|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076234.3 1 10.834404 KEEP 0 0 0 36 1235 GG 0.999999 0.999999 0 - 10 60 370 0 0 23.458897 245 60 8849 318 ENST00000229729.6 0.039216 1 ZBTB12 221527 __UNKNOWN__ __UNKNOWN__ 6 31868075 31868075 __UNKNOWN__ Silent SNP G G C rs9267664 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:31868075G>C ENST00000375527.2 - 2 1183 c.1008C>G c.(1006-1008)acC>acG p.T336T C2_ENST00000469372.1_Intron NM_181842.2 NP_862825.1 Q9Y330 ZBT12_HUMAN zinc finger and BTB domain containing 12 336 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1) 10 CCGGGCACTTGGTGCACTTGA 0.657 NA G||| 473 0.0944489 0.1815 0.085 5008 , , NA 11878 0.0397 NA 0.0417 False NA ,,, NA NA NA 2504 0.0941 NA NA NA NA 0 G 624,3782 249.6+/-257.0 45,534,1624 39 40 40 1008 2.9 1 6 dbSNP_118 40 354,8244 111.8+/-172.0 15,324,3960 no coding-synonymous ZBTB12 NM_181842.2 60,858,5584 CC,CG,GG 4.1172,14.1625,7.5208 336/460 31868075 978,12026 2203 4299 6502 SO:0001819 synonymous_variant BC043609 CCDS4727.1 6p21.31 2013-01-08 2004-04-15 2004-04-16 ENSG00000204366 ENSG00000204366 221527 -, Zinc fingers, C2H2-type, BTB/POZ domain containing 19066 protein-coding gene gene with protein product chromosome 6 open reading frame 46 C6orf46 NA 9545376 Standard NM_181842 NM_181842 NA Approved G10, NG35, D6S59E uc003nyd.1 Q9Y330 OTTHUMG00000031169 ENST00000375527.2:c.1008C>G chr6.hg19:g.31868075G>C NA B0UY00|Q5JQ98 hg19 CCDS4727.1 0.02 -0.403219 CTTxGTG COVERED NOVEL ZBTB12-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076315.2 0 8.424725 KEEP 0 0 0 28 936 GG 0.999997 0.934489 0 - 3 60 104 0 0 7.018207 43 60 1538 81 ENST00000375527.2 0.065217 0.934492 SKIV2L 6499 __UNKNOWN__ __UNKNOWN__ 6 31931137 31931137 __UNKNOWN__ Intron SNP T T C rs401775 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:31931137T>C ENST00000375394.2 + 14 1516 SKIV2L_ENST00000544581.1_Intron NM_006929.4 NP_008860.4 Q15477 SKIV2_HUMAN superkiller viralicidic activity 2-like (S. cerevisiae) NA NA ATP catabolic process (GO:0006200) nucleus (GO:0005634)|Ski complex (GO:0055087) ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723) breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1) 4 GGTGGGGATGTGGGTTCCTTC 0.547 NA T||| 1312 0.261981 0.3956 0.1744 5008 , , NA 14408 0.1468 NA 0.1879 False NA ,,, NA NA NA 2504 0.3384 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS4731.1 6p21 2010-02-17 2001-11-28 ENSG00000204351 ENSG00000204351 6499 10898 protein-coding gene gene with protein product 600478 superkiller viralicidic activity 2 (S. cerevisiae homolog)-like SKIV2 NA 7759100, 9799600 Standard XM_006715168 NA Approved HLP, DDX13, SKI2W, 170A uc003nyn.1 Q15477 OTTHUMG00000031146 ENST00000375394.2:c.1404-53T>C chr6.hg19:g.31931137T>C NA O15005|Q12902|Q15476|Q5ST66 hg19 CCDS4731.1 0.02 4.848459 ATGxGGG COVERED NOVEL SKIV2L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076264.3 0 7.51604 KEEP 0 0 0 25 686 TT 0.999931 0.999929 0 + 13 60 474 0 0 35.885349 104 60 3498 147 ENST00000375394.2 0.111111 0.999998 SKIV2L 6499 __UNKNOWN__ __UNKNOWN__ 6 31933865 31933865 __UNKNOWN__ Intron SNP T T C rs146900377 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:31933865T>C ENST00000375394.2 + 18 2315 SKIV2L_ENST00000544581.1_Intron NM_006929.4 NP_008860.4 Q15477 SKIV2_HUMAN superkiller viralicidic activity 2-like (S. cerevisiae) NA NA ATP catabolic process (GO:0006200) nucleus (GO:0005634)|Ski complex (GO:0055087) ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723) breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1) 4 TCTCCTCtcttctttttcttc 0.552 NA T||| 98 0.0195687 0.0091 0.0014 5008 , , NA 18376 0.0099 NA 0.001 False NA ,,, NA NA NA 2504 0.0757 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS4731.1 6p21 2010-02-17 2001-11-28 ENSG00000204351 ENSG00000204351 6499 10898 protein-coding gene gene with protein product 600478 superkiller viralicidic activity 2 (S. cerevisiae homolog)-like SKIV2 NA 7759100, 9799600 Standard XM_006715168 NA Approved HLP, DDX13, SKI2W, 170A uc003nyn.1 Q15477 OTTHUMG00000031146 ENST00000375394.2:c.2202+75T>C chr6.hg19:g.31933865T>C NA O15005|Q12902|Q15476|Q5ST66 hg19 CCDS4731.1 0.02 -0.288756 TCTxCTT COVERED NOVEL SKIV2L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076264.3 1 3.911605 KEEP 0 0 0 13 407 TT 0.994391 0.756619 0 + 3 60 107 0 0 7.812249 29 60 973 50 ENST00000375394.2 0.09375 0.760887 SKIV2L 6499 __UNKNOWN__ __UNKNOWN__ 6 31934494 31934494 __UNKNOWN__ Silent SNP G G A rs2280773 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:31934494G>A ENST00000375394.2 + 19 2324 c.2211G>A c.(2209-2211)ccG>ccA p.P737P SKIV2L_ENST00000544581.1_Silent_p.P544P NM_006929.4 NP_008860.4 Q15477 SKIV2_HUMAN superkiller viralicidic activity 2-like (S. cerevisiae) 737 Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}. NA ATP catabolic process (GO:0006200) nucleus (GO:0005634)|Ski complex (GO:0055087) ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723) breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1) 4 AGGGGAAGCCGTCCCAGCTGC 0.582 NA G||| 67 0.0133786 0.0008 0.0173 5008 , , NA 19363 0.0536 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 G 1,4405 2.1+/-5.4 0,1,2202 127 121 123 2211 -11 0.7 6 dbSNP_100 123 0,8600 0,0,4300 no coding-synonymous SKIV2L NM_006929.4 0,1,6502 AA,AG,GG 0.0,0.0227,0.0077 737/1247 31934494 1,13005 2203 4300 6503 SO:0001819 synonymous_variant CCDS4731.1 6p21 2010-02-17 2001-11-28 ENSG00000204351 ENSG00000204351 6499 10898 protein-coding gene gene with protein product 600478 superkiller viralicidic activity 2 (S. cerevisiae homolog)-like SKIV2 NA 7759100, 9799600 Standard XM_006715168 NA Approved HLP, DDX13, SKI2W, 170A uc003nyn.1 Q15477 OTTHUMG00000031146 ENST00000375394.2:c.2211G>A chr6.hg19:g.31934494G>A NA O15005|Q12902|Q15476|Q5ST66 hg19 CCDS4731.1 0.02 4.135396 GCCxTCC COVERED NOVEL SKIV2L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076264.3 1 18.353549 KEEP 0 0 0 61 1970 GG 1 1 0 + 6 60 225 0 0 14.806703 124 60 4183 225 ENST00000375394.2 0.046154 1 SKIV2L 6499 __UNKNOWN__ __UNKNOWN__ 6 31937511 31937511 __UNKNOWN__ 3'UTR SNP T T C rs2075702 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:31937511T>C ENST00000375394.2 + 0 3873 SKIV2L_ENST00000544581.1_3'UTR NM_006929.4 NP_008860.4 Q15477 SKIV2_HUMAN superkiller viralicidic activity 2-like (S. cerevisiae) NA NA ATP catabolic process (GO:0006200) nucleus (GO:0005634)|Ski complex (GO:0055087) ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723) breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1) 4 TGTAAAAACATGATGATAAAA 0.488 NA T||| 47 0.00938498 0.0 0.0 5008 , , NA 19806 0.0466 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 44 46 45 NA NA 6 NA 31937511 1511 2709 4220 SO:0001624 3_prime_UTR_variant CCDS4731.1 6p21 2010-02-17 2001-11-28 ENSG00000204351 ENSG00000204351 6499 10898 protein-coding gene gene with protein product 600478 superkiller viralicidic activity 2 (S. cerevisiae homolog)-like SKIV2 NA 7759100, 9799600 Standard XM_006715168 NA Approved HLP, DDX13, SKI2W, 170A uc003nyn.1 Q15477 OTTHUMG00000031146 ENST00000375394.2:c.*19T>C chr6.hg19:g.31937511T>C NA O15005|Q12902|Q15476|Q5ST66 hg19 CCDS4731.1 0.02 32.696845 ACAxGAT COVERED NOVEL SKIV2L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076264.3 4 71.285205 KEEP 0 0 0 237 7408 TT 1 1 0 + 28 60 977 0 0 57.895208 805 60 29392 1334 ENST00000375394.2 0.033613 1 DXO 1797 __UNKNOWN__ __UNKNOWN__ 6 31938412 31938412 __UNKNOWN__ Missense_Mutation SNP G G T rs17207867 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:31938412G>T ENST00000375349.3 - 4 1194 c.783C>A c.(781-783)caC>caA p.H261Q DXO_ENST00000478221.1_5'UTR|DXO_ENST00000375356.3_Missense_Mutation_p.H261Q|DXO_ENST00000337523.5_Missense_Mutation_p.H261Q O77932 DXO_HUMAN decapping exoribonuclease 261 NA H -> Q (in dbSNP:rs17207867). {ECO:0000269|PubMed:14574404}. metabolic process (GO:0008152)|mRNA catabolic process (GO:0006402)|nuclear mRNA surveillance (GO:0071028)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA destabilization (GO:0050779) nucleus (GO:0005634) 5'-3' exonuclease activity (GO:0008409)|magnesium ion binding (GO:0000287)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA pyrophosphohydrolase activity (GO:0034353) NA GGCCAGGGCTGTGCATCTCCT 0.602 NA G||| 594 0.11861 0.1694 0.0764 5008 , , NA 17477 0.0347 NA 0.0974 False NA ,,, NA NA NA 2504 0.1881 NA NA NA NA 0 G GLN/HIS 444,2578 34,376,1101 72 75 74 783 3.6 1 6 dbSNP_123 74 496,4922 35,426,2248 yes missense DOM3Z NM_005510.3 24 69,802,3349 TT,TG,GG 9.1547,14.6923,11.1374 benign 261/397 31938412 940,7500 1511 2709 4220 SO:0001583 missense AF059252 CCDS4732.1 6p21.3 2013-09-11 2013-09-11 2013-09-11 ENSG00000204348 ENSG00000204348 1797 2992 protein-coding gene gene with protein product 605996 DOM-3 (C. elegans) homolog Z, dom-3 homolog Z (C. elegans) DOM3Z NA 9799600, 23523372 Standard NM_005510 NA Approved uc003nyp.1 O77932 OTTHUMG00000031272 ENST00000375349.3:c.783C>A chr6.hg19:g.31938412G>T ENSP00000364498:p.His261Gln NA A2CER3|B0UZ80|O15004|O78127|O78128|Q5ST60|Q6IPZ2|Q9NPK4 hg19 CCDS4732.1 0.02 11.906946 GCTxTGC COVERED 220|220 0.10073260073260074|0.10073260073260074 94|94 0.1910569105691057|0.1910569105691057 26|26 0.0718232044198895|0.0718232044198895 22|22 0.038461538461538464|0.038461538461538464 78|78 0.10290237467018469|0.10290237467018469 G|G 14.38|14.38 2.518585|2.518585 0.44763|0.44763 0.146923|0.146923 0.091547|0.091547 ENSG00000204348|ENSG00000204348 ENST00000337523;ENST00000375349;ENST00000375356|ENST00000495340 T;T;T|. 0.39787|. 1.06;1.06;1.06|. 4.46|4.46 3.59|3.59 0.41128|0.41128 RAI1-like (1);|. 0.109458|. 0.64402|. D|. 0.000006|. T|T 0.18383|0.18383 0.0441|0.0441 N|N 0.25426|0.25426 0.745|0.745 0.29311|0.29311 P|P 0.868011|0.868011 B|. 0.25272|. 0.122|. B|. 0.18871|. 0.023|. T|T 0.08994|0.08994 -1.0695|-1.0695 9|4 0.12430|. T|. 0.62|. -25.2902|-25.2902 6.6042|6.6042 0.22716|0.22716 0.0938:0.0:0.7283:0.1779|0.0938:0.0:0.7283:0.1779 rs17207867;rs59177784|rs17207867;rs59177784 261|. O77932|. DOM3Z_HUMAN|. Q|K 261|68 ENSP00000337759:H261Q;ENSP00000364498:H261Q;ENSP00000364505:H261Q|. ENSP00000337759:H261Q|. H|T -|- 3|2 2|0 DOM3Z|DOM3Z 32046391|32046391 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.998000|0.998000 0.95712|0.95712 2.570000|2.570000 0.45981|0.45981 1.088000|1.088000 0.41272|0.41272 0.561000|0.561000 0.74099|0.74099 CAC|ACA NOVEL DXO-006 KNOWN alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076592.3 2 34.745319 KEEP 0 1 27 125 4407 GG 1 1 0 - 12 60 397 0 0 23.474622 310 60 11552 545 ENST00000375349.3 0.037267 1 DXO 1797 __UNKNOWN__ __UNKNOWN__ 6 31938451 31938451 __UNKNOWN__ Silent SNP T T C rs35337578 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:31938451T>C ENST00000375349.3 - 4 1155 c.744A>G c.(742-744)ccA>ccG p.P248P DXO_ENST00000478221.1_5'UTR|DXO_ENST00000375356.3_Silent_p.P248P|DXO_ENST00000337523.5_Silent_p.P248P O77932 DXO_HUMAN decapping exoribonuclease 248 NA metabolic process (GO:0008152)|mRNA catabolic process (GO:0006402)|nuclear mRNA surveillance (GO:0071028)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA destabilization (GO:0050779) nucleus (GO:0005634) 5'-3' exonuclease activity (GO:0008409)|magnesium ion binding (GO:0000287)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA pyrophosphohydrolase activity (GO:0034353) NA CATAGCAGGTTGGGGGCTGTG 0.612 NA C||| 600 0.119808 0.1725 0.0764 5008 , , NA 17169 0.0347 NA 0.0994 False NA ,,, NA NA NA 2504 0.1881 NA NA NA NA 0 C 452,2568 34,384,1092 68 75 73 744 -7.2 0 6 dbSNP_126 73 497,4921 35,427,2247 no coding-synonymous DOM3Z NM_005510.3 69,811,3339 CC,CT,TT 9.1731,14.9669,11.2467 248/397 31938451 949,7489 1510 2709 4219 SO:0001819 synonymous_variant AF059252 CCDS4732.1 6p21.3 2013-09-11 2013-09-11 2013-09-11 ENSG00000204348 ENSG00000204348 1797 2992 protein-coding gene gene with protein product 605996 DOM-3 (C. elegans) homolog Z, dom-3 homolog Z (C. elegans) DOM3Z NA 9799600, 23523372 Standard NM_005510 NA Approved uc003nyp.1 O77932 OTTHUMG00000031272 ENST00000375349.3:c.744A>G chr6.hg19:g.31938451T>C NA A2CER3|B0UZ80|O15004|O78127|O78128|Q5ST60|Q6IPZ2|Q9NPK4 hg19 CCDS4732.1 0.02 10.504646 GGTxGGG COVERED 221 0.10119047619047619 95 0.19308943089430894 26 0.0718232044198895 22 0.038461538461538464 78 0.10290237467018469 C 3.700 -0.061674 0.07317 0.149669 0.091731 ENSG00000204348 ENST00000495340 . . . 4.46 -7.15 0.01521 . . . . . T 0.03011 0.0089 . . . 0.09310 P 0.9999999999990461 . . . . . . T 0.28038 -1.0056 3 . . . -17.4696 0.1015 0.00048 0.3164:0.1726:0.1974:0.3137 rs35337578 . . . R 55 . . Q - 2 0 DOM3Z 32046430 0.000000 0.05858 0.037000 0.18230 0.818000 0.46254 -2.978000 0.00664 -2.191000 0.00756 -2.364000 0.00238 CAA NOVEL DXO-006 KNOWN alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076592.3 2 33.088924 KEEP 0 0 0 110 3267 TT 1 1 0 - 11 60 395 0 0 24.460403 278 60 10023 463 ENST00000375349.3 0.038062 1 C4A 720 __UNKNOWN__ __UNKNOWN__ 6 31962497 31962497 __UNKNOWN__ Intron SNP C C G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:31962497C>G ENST00000428956.2 + 21 2886 C4A_ENST00000498271.1_Intron NM_007293.2 NP_009224.2 P0C0L4 CO4A_HUMAN complement component 4A (Rodgers blood group) NA NA complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449) blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886) complement component C1q binding (GO:0001849)|endopeptidase inhibitor activity (GO:0004866) NA Intravenous Immunoglobulin(DB00028) GAATGGAGCACCCCTGAATAT 0.602 NA NA NA NA NA NA NA NA NA NA NA 0 12 12 12 NA NA 6 NA 31962497 2181 4199 6380 SO:0001627 intron_variant L26261, M14823, X77491, AY224378 CCDS47404.1, CCDS59005.1 6p21.3 2014-09-17 2006-01-19 ENSG00000244731 ENSG00000244731 720 Blood group antigens, Complement system 1323 protein-coding gene gene with protein product 120810 complement component 4A NA Standard NM_007293 NM_001252204 NA Approved CPAMD2, C4S, CO4, C4, C4A3, C4A2, C4A4, C4A6, C4B, RG P0C0L4 OTTHUMG00000031186 ENST00000428956.2:c.2802+13C>G chr6.hg19:g.31962497C>G NA A6H8M8|A6NHJ5|A7E2V2|B0QZR6|B0V2C8|B2RUT6|B7ZVZ6|P01028|P78445|Q13160|Q13906|Q14033|Q14835|Q4LE82|Q5JNX2|Q5JQM8|Q6P4R1|Q6U2E5|Q6U2E8|Q6U2F0|Q6U2F3|Q6U2F4|Q6U2F6|Q6U2F8|Q6U2G0|Q96EG2|Q96SA8|Q9NPK5|Q9UIP5 hg19 CCDS47404.1 0.02 1.690571 GCAxCCC COVERED NOVEL C4A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076364.3 2 19.259334 KEEP 69 0 0 64 2191 CC 1 0.999862 0 + 4 27 135 0 0 8.296081 87 50 3078 245 ENST00000428956.2 0.043956 0.999862 C4A 720 __UNKNOWN__ __UNKNOWN__ 6 31964228 31964228 __UNKNOWN__ Missense_Mutation SNP A A G rs577596183 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:31964228A>G ENST00000428956.2 + 28 3611 c.3527A>G c.(3526-3528)aAc>aGc p.N1176S C4A_ENST00000498271.1_Missense_Mutation_p.N1176S NM_007293.2 NP_009224.2 P0C0L4 CO4A_HUMAN complement component 4A (Rodgers blood group) 1176 NA N -> S (in allotype C4A1; dbSNP:rs17874654). {ECO:0000269|PubMed:14574404, ECO:0000269|PubMed:3696167, ECO:0000269|Ref.3, ECO:0000269|Ref.8}. complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449) blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886) complement component C1q binding (GO:0001849)|endopeptidase inhibitor activity (GO:0004866) NA Intravenous Immunoglobulin(DB00028) TCAAAGGCAAACTCATTTTTG 0.607 NA NA NA NA NA NA NA NA NA NA NA 0 90 102 98 NA NA 6 NA 31964228 1555 3540 5095 SO:0001583 missense L26261, M14823, X77491, AY224378 CCDS47404.1, CCDS59005.1 6p21.3 2014-09-17 2006-01-19 ENSG00000244731 ENSG00000244731 720 Blood group antigens, Complement system 1323 protein-coding gene gene with protein product 120810 complement component 4A NA Standard NM_007293 NM_001252204 NA Approved CPAMD2, C4S, CO4, C4, C4A3, C4A2, C4A4, C4A6, C4B, RG P0C0L4 OTTHUMG00000031186 ENST00000428956.2:c.3527A>G chr6.hg19:g.31964228A>G ENSP00000396688:p.Asn1176Ser NA A6H8M8|A6NHJ5|A7E2V2|B0QZR6|B0V2C8|B2RUT6|B7ZVZ6|P01028|P78445|Q13160|Q13906|Q14033|Q14835|Q4LE82|Q5JNX2|Q5JQM8|Q6P4R1|Q6U2E5|Q6U2E8|Q6U2F0|Q6U2F3|Q6U2F4|Q6U2F6|Q6U2F8|Q6U2G0|Q96EG2|Q96SA8|Q9NPK5|Q9UIP5 hg19 CCDS47404.1 0.02 2.073666 CAAxCTC COVERED . . . . . . . . . . a 1.772 -0.484018 0.04383 . . ENSG00000244731 ENST00000428956;ENST00000498271 T;T 0.36340 1.26;1.26 3.47 2.24 0.28232 Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1); . . . . T 0.09247 0.0228 L 0.48642 1.525 0.09310 P 0.999999896602 B;B 0.11235 0.004;0.004 B;B 0.23150 0.044;0.044 T 0.30001 -0.9993 8 0.05351 T 0.99 . 6.9466 0.24522 0.7642:0.2358:0.0:0.0 rs2746414 1176;1176 A6H8M8;P0C0L4 .;CO4A_HUMAN S 1176 ENSP00000396688:N1176S;ENSP00000420212:N1176S ENSP00000396688:N1176S N + 2 0 C4A 32072207 0.016000 0.18221 0.755000 0.31263 0.803000 0.45373 1.116000 0.31221 0.338000 0.23692 0.338000 0.21704 AAC NOVEL C4A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076364.3 2 3.647447 KEEP 0 1 40 26 826 AA 0.999997 0.996721 0 + 9 40 338 0 0 26.431969 61 60 2138 104 ENST00000428956.2 0.128571 0.996724 AL645922.1 0 __UNKNOWN__ __UNKNOWN__ 6 31974328 31974328 __UNKNOWN__ Intron SNP G G A rs1079995 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:31974328G>A ENST00000594256.1 - 2 38 CYP21A1P_ENST00000342991.6_RNA NA NA NA GGTCAGCCTCGCCTCTCACAG 0.662 NA G||| 674 0.134585 0.1974 0.0764 5008 , , NA 15808 0.0387 NA 0.1123 False NA ,,, NA NA NA 2504 0.2127 NA NA NA NA 0 13 12 13 NA NA 6 NA 31974328 674 1522 2196 SO:0001627 intron_variant NA NA NA NA ENST00000594256.1:c.39-353C>T chr6.hg19:g.31974328G>A NA hg19 0.02 -0.315558 CTCxCCT UNCOVERED NOVEL AL645922.1-201 NOVEL basic|appris_principal protein_coding NA protein_coding 2 8.426502 KEEP 36 0 0 28 921 GG 0 0 0 - 7 40 247 0 0 20.342078 29 40 896 92 ENST00000594256.1 0.194444 0.818465 AL645922.1 0 __UNKNOWN__ __UNKNOWN__ 6 31974671 31974671 __UNKNOWN__ Intron SNP G G A rs28615950 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:31974671G>A ENST00000594256.1 - 1 38 CYP21A1P_ENST00000342991.6_RNA NA NA NA AATTGTGGACGTGATTCCCTT 0.542 NA G||| 637 0.127196 0.1717 0.0764 5008 , , NA 19274 0.0387 NA 0.1113 False NA ,,, NA NA NA 2504 0.2106 NA NA NA NA 0 59 50 53 NA NA 6 NA 31974671 687 1532 2219 SO:0001627 intron_variant NA NA NA NA ENST00000594256.1:c.38+172C>T chr6.hg19:g.31974671G>A NA hg19 0.02 1.886141 GACxTGA UNCOVERED NOVEL AL645922.1-201 NOVEL basic|appris_principal protein_coding NA protein_coding 1 6.61355 KEEP 57 0 0 22 719 GG 0 0 0 - 9 49 332 0 0 25.276215 71 60 2546 175 ENST00000594256.1 0.1125 0.999218 CYP21A1P 1590 __UNKNOWN__ __UNKNOWN__ 6 31975151 31975151 __UNKNOWN__ RNA SNP T T G rs41315836 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:31975151T>G ENST00000342991.6 + 0 1274 NR_040090.1 cytochrome P450, family 21, subfamily A, polypeptide 1 pseudogene NA NA NA GGAAGGGCACTTGCACATGGC 0.607 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA M13935 6p21.33 2011-12-01 2003-01-14 ENSG00000204338 ENSG00000204338 1590 Cytochrome P450s 2599 pseudogene pseudogene cytochrome P450, subfamily XXIA (steroid 21-hydroxylase), polypeptide 1 pseudogene CYP21P, CYP21A NA 3487786, 3038528 Standard NR_040090 NA Approved P450c21A uc021yve.1 OTTHUMG00000031026 ENST00000342991.6: chr6.hg19:g.31975151T>G NA hg19 0.02 1.917992 CACxTGC COVERED NOVEL CYP21A1P-002 KNOWN basic retained_intron NA pseudogene OTTHUMT00000268795.1 0 4.949001 KEEP 3 1 36 29 899 TT 0.999997 0.9937 0 + 6 44 204 0 0 14.575537 59 60 2201 117 ENST00000342991.6 0.092308 0.993703 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 31976752 31976752 __UNKNOWN__ IGR SNP T T C rs41316148 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:31976752T>C NA NA CYP21A1P (524 upstream) : C4B (5786 downstream) NA NA NA ACTGTGGGGCTGAAACCTAGG 0.607 NA T||| 202 0.0403355 0.0908 0.0101 5008 , , NA 17220 0.0089 NA 0.0109 False NA ,,, NA NA NA 2504 0.0562 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.31976752T>C NA hg19 0.02 -0.289459 GGCxGAA UNCOVERED NOVEL 0 1 3.009012 KEEP 9 0 0 10 308 TT 0 0 0 3 40 96 0 0 6.66854 30 50 1041 49 0.090909 0.760887 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 31977493 31977493 __UNKNOWN__ IGR SNP C C T rs79770049 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:31977493C>T NA NA CYP21A1P (1265 upstream) : C4B (5045 downstream) NA NA NA CCCAATGCCACCCACCAGCCA 0.662 NA C||| 1099 0.219449 0.1815 0.1801 5008 , , NA 15460 0.3413 NA 0.165 False NA ,,, NA NA NA 2504 0.229 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.31977493C>T NA hg19 0.02 2.070375 CCAxCCA COVERED NOVEL 0 0 4.496477 KEEP 1 0 0 15 474 CC 0.99649 0.982692 0 12 60 409 0 0 33.685373 47 60 1747 95 0.20339 0.986153 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 31977548 31977548 __UNKNOWN__ IGR SNP G G A rs565945688 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:31977548G>A NA NA CYP21A1P (1320 upstream) : C4B (4990 downstream) NA NA NA TTCAGGGGCCGCTCCCGGTTG 0.662 NA G||| 701 0.139976 0.2118 0.0764 5008 , , NA 12405 0.0407 NA 0.1113 False NA ,,, NA NA NA 2504 0.2198 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.31977548G>A NA hg19 0.02 -0.385971 GCCxCTC COVERED NOVEL 0 0 6.019144 KEEP 3 0 0 20 701 GG 0.999863 0.918045 0 8 60 266 0 0 21.358343 36 60 1224 86 0.181818 0.918171 C4B 721 __UNKNOWN__ __UNKNOWN__ 6 31996524 31996524 __UNKNOWN__ Silent SNP C C A rs406658 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:31996524C>A ENST00000435363.2 + 26 3369 c.3285C>A c.(3283-3285)ggC>ggA p.G1095G C4B_ENST00000425700.2_Silent_p.G1095G NM_001002029.3 NP_001002029.3 P0C0L5 CO4B_HUMAN complement component 4B (Chido blood group) 1095 NA complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|detection of molecule of bacterial origin (GO:0032490)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449) blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|other organism cell (GO:0044216)|plasma membrane (GO:0005886) carbohydrate binding (GO:0030246)|complement binding (GO:0001848)|endopeptidase inhibitor activity (GO:0004866) NA Intravenous Immunoglobulin(DB00028) AGGTAGGAGGCTCGCCTGAGA 0.562 NA C||| 1123 0.224241 0.385 0.1643 5008 , , NA 17136 0.1448 NA 0.1412 False NA ,,, NA NA NA 2504 0.2168 NA NA NA NA 0 18 17 18 NA NA 6 NA 31996524 1530 3498 5028 SO:0001819 synonymous_variant AF019413 CCDS47405.1 6p21.3 2014-09-17 2009-01-06 ENSG00000224389 ENSG00000224389 721 Blood group antigens, Complement system 1324 protein-coding gene gene with protein product 120820 complement component 4B NA Standard NM_001002029 NM_001002029 NA Approved CPAMD3, C4F, CO4, C4B1, C4B3, CH uc011jpm.2 P0C0L5 OTTHUMG00000031187 ENST00000435363.2:c.3285C>A chr6.hg19:g.31996524C>A NA A2BHY4|P01028|P78445|Q13160|Q13906|Q14033|Q14835|Q6U2E9|Q6U2G1|Q6U2I5|Q6U2L1|Q6U2L7|Q6U2L9|Q6U2M5|Q6VCV8|Q96SA7|Q9NPK5|Q9UIP5 hg19 CCDS47405.1 0.02 2.203206 AGGxTCG COVERED NOVEL C4B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076368.5 2 15.885512 KEEP 111 1 29 63 2247 CC 0.999999 0.998991 0 + 5 60 189 0 0 13.221982 73 60 2744 286 ENST00000435363.2 0.064103 0.998993 C4B 721 __UNKNOWN__ __UNKNOWN__ 6 31996966 31996966 __UNKNOWN__ Missense_Mutation SNP G G A rs2746414 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:31996966G>A ENST00000435363.2 + 28 3611 c.3527G>A c.(3526-3528)aGc>aAc p.S1176N C4B_ENST00000425700.2_Missense_Mutation_p.S1176N NM_001002029.3 NP_001002029.3 P0C0L5 CO4B_HUMAN complement component 4B (Chido blood group) 1176 NA S -> N (in allotype C4B1a; dbSNP:rs2746414). {ECO:0000269|PubMed:14989716}. complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|detection of molecule of bacterial origin (GO:0032490)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449) blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|other organism cell (GO:0044216)|plasma membrane (GO:0005886) carbohydrate binding (GO:0030246)|complement binding (GO:0001848)|endopeptidase inhibitor activity (GO:0004866) NA Intravenous Immunoglobulin(DB00028) TCAAAGGCAAGCTCATTTTTG 0.617 NA NA NA NA NA NA NA NA NA NA NA 0 107 90 95 NA NA 6 NA 31996966 1559 3552 5111 SO:0001583 missense AF019413 CCDS47405.1 6p21.3 2014-09-17 2009-01-06 ENSG00000224389 ENSG00000224389 721 Blood group antigens, Complement system 1324 protein-coding gene gene with protein product 120820 complement component 4B NA Standard NM_001002029 NM_001002029 NA Approved CPAMD3, C4F, CO4, C4B1, C4B3, CH uc011jpm.2 P0C0L5 OTTHUMG00000031187 ENST00000435363.2:c.3527G>A chr6.hg19:g.31996966G>A ENSP00000415941:p.Ser1176Asn NA A2BHY4|P01028|P78445|Q13160|Q13906|Q14033|Q14835|Q6U2E9|Q6U2G1|Q6U2I5|Q6U2L1|Q6U2L7|Q6U2L9|Q6U2M5|Q6VCV8|Q96SA7|Q9NPK5|Q9UIP5 hg19 CCDS47405.1 0.02 -0.421104 CAAxCTC COVERED 183 0.08379120879120878 58 0.11788617886178862 21 0.058011049723756904 37 0.06468531468531469 67 0.08839050131926121 A 0.004 -2.280506 0.00254 . . ENSG00000224389 ENST00000435363;ENST00000425700 T;T 0.13657 2.57;2.57 4.66 0.91 0.19337 . . . . . T 0.01765 0.0056 . . . 0.80722 P 0.0 B;B 0.02656 0.0;0.0 B;B 0.04013 0.0;0.001 T 0.48822 -0.9001 7 0.16420 T 0.52 . 3.9585 0.09401 0.5167:0.1842:0.2991:0.0 rs17874654;rs60964411 1176;1176 F5GXS0;Q6U2E9 .;. N 1176 ENSP00000415941:S1176N;ENSP00000391933:S1176N ENSP00000391933:S1176N S + 2 0 C4B 32104944 0.000000 0.05858 0.052000 0.19188 0.150000 0.21749 0.251000 0.18257 -0.086000 0.12550 -1.236000 0.01555 AGC NOVEL C4B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076368.5 2 3.009849 KEEP 0 0 0 10 360 GG 0.992708 0.941486 0 + 3 40 104 0 0 6.959834 45 60 1656 60 ENST00000435363.2 0.0625 0.948402 CYP21A2 1589 __UNKNOWN__ __UNKNOWN__ 6 32007063 32007063 __UNKNOWN__ Intron SNP C C T rs541573647 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:32007063C>T ENST00000418967.2 + 3 605 CYP21A2_ENST00000435122.2_Intron NM_000500.7 NP_000491.4 P08686 CP21A_HUMAN cytochrome P450, family 21, subfamily A, polypeptide 2 NA NA glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805) endoplasmic reticulum membrane (GO:0005789) heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 21-monooxygenase activity (GO:0004509)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395) NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 11 Ketoconazole(DB01026) GGGTCAGCCTCGCCTCTCACA 0.662 NA C||| 1566 0.3127 0.3215 0.1931 5008 , , NA 14140 0.2976 NA 0.2664 False NA ,,, NA NA NA 2504 0.4489 NA NA NA Melanoma(174;1669 1998 3915 34700 46447) NA 0 C , 1263,3019 200,863,1078 7 6 6 , 1.5 0 6 dbSNP_52 6 2261,6101 371,1519,2291 no intron,intron CYP21A2 NM_000500.7,NM_001128590.3 , 571,2382,3369 TT,TC,CC 27.039,29.4956,27.8709 , , 32007063 3524,9120 2141 4181 6322 SO:0001627 intron_variant X58906 CCDS4735.1, CCDS47406.1 6p21.3 2014-09-17 2003-01-14 ENSG00000231852 ENSG00000231852 1589 1.14.99.10 Cytochrome P450s 2600 protein-coding gene gene with protein product Steroid 21-monooxygenase 613815 cytochrome P450, subfamily XXIA (steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2 CYP21, CYP21B NA Standard NM_000500 NM_000500 NA Approved P450c21B, CA21H, CPS1, CAH1 uc021yvd.1 P08686 OTTHUMG00000031069 ENST00000418967.2:c.447+38C>T chr6.hg19:g.32007063C>T NA A2BHY6|P04033|Q01204|Q08AG8|Q16749|Q16806|Q5ST44|Q96NU8 hg19 CCDS4735.1 0.02 -0.429719 CCTxGCC UNCOVERED NOVEL CYP21A2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000268768.2 2 8.42644 KEEP 39 0 0 28 943 CC 0 0 0 + 3 27 98 0 0 6.333892 46 40 1670 108 ENST00000418967.2 0.061224 0.954491 CYP21A2 1589 __UNKNOWN__ __UNKNOWN__ 6 32008073 32008073 __UNKNOWN__ Intron SNP G G A rs576821667 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:32008073G>A ENST00000418967.2 + 7 1097 CYP21A2_ENST00000435122.2_Intron NM_000500.7 NP_000491.4 P08686 CP21A_HUMAN cytochrome P450, family 21, subfamily A, polypeptide 2 NA NA glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805) endoplasmic reticulum membrane (GO:0005789) heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 21-monooxygenase activity (GO:0004509)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395) NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 11 Ketoconazole(DB01026) TGTGCGGCTGGGGCTGTGCTT 0.677 NA G||| 68 0.0135783 0.0008 0.0173 5008 , , NA 19617 0.0546 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA Melanoma(174;1669 1998 3915 34700 46447) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X58906 CCDS4735.1, CCDS47406.1 6p21.3 2014-09-17 2003-01-14 ENSG00000231852 ENSG00000231852 1589 1.14.99.10 Cytochrome P450s 2600 protein-coding gene gene with protein product Steroid 21-monooxygenase 613815 cytochrome P450, subfamily XXIA (steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2 CYP21, CYP21B NA Standard NM_000500 NM_000500 NA Approved P450c21B, CA21H, CPS1, CAH1 uc021yvd.1 P08686 OTTHUMG00000031069 ENST00000418967.2:c.939+91G>A chr6.hg19:g.32008073G>A NA A2BHY6|P04033|Q01204|Q08AG8|Q16749|Q16806|Q5ST44|Q96NU8 hg19 CCDS4735.1 0.02 4.177573 CTGxGGC COVERED NOVEL CYP21A2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000268768.2 1 6.609263 KEEP 6 0 0 22 708 GG 0.99986 0.999856 0 + 5 27 179 0 0 11.380447 109 50 3876 144 ENST00000418967.2 0.04386 0.999996 TNXB 7148 __UNKNOWN__ __UNKNOWN__ 6 32015796 32015796 __UNKNOWN__ Intron SNP A A G rs78125577 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:32015796A>G ENST00000375244.3 - 30 10247 TNXB_ENST00000375247.2_Intron P22105 TENX_HUMAN tenascin XB NA NA actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578) heparin binding (GO:0008201)|integrin binding (GO:0005178) endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 GGGGCTGGAAAAGACAGTGAG 0.647 NA A||| 361 0.0720847 0.0015 0.0663 5008 , , NA 18006 0.2808 NA 0.003 False NA ,,, NA NA NA 2504 0.0276 NA NA NA NA 0 A 5,2811 0,5,1403 61 73 69 -0.7 0 6 dbSNP_131 69 5,5243 0,5,2619 no intron TNXB NM_019105.6 0,10,4022 GG,GA,AA 0.0953,0.1776,0.124 32015796 10,8054 1408 2624 4032 SO:0001627 intron_variant X71923 CCDS4736.1 6p21.3 2013-02-11 ENSG00000168477 ENSG00000168477 7148 Fibrinogen C domain containing, Fibronectin type III domain containing 11976 protein-coding gene gene with protein product 600985 TNXB1, TNXB2 NA 8530023 Standard NM_019105 NM_019105 NA Approved TNXBS, XBS, XB uc021yvf.2 P22105 OTTHUMG00000031088 ENST00000375244.3:c.10046-7T>C chr6.hg19:g.32015796A>G NA P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7 hg19 0.02 7.176891 GAAxAGA COVERED NOVEL TNXB-001 PUTATIVE not_organism_supported|basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000268927.2 1 19.251043 KEEP 0 0 0 64 1847 AA 1 1 0 - 8 60 310 0 0 21.071697 150 60 5363 249 ENST00000375244.3 0.050633 1 TNXB 7148 __UNKNOWN__ __UNKNOWN__ 6 32017161 32017161 __UNKNOWN__ Missense_Mutation SNP C C T rs2075563 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:32017161C>T ENST00000375244.3 - 28 9844 c.9643G>A c.(9643-9645)Gag>Aag p.E3215K TNXB_ENST00000375247.2_Missense_Mutation_p.E3213K P22105 TENX_HUMAN tenascin XB 3260 Fibronectin type-III 24. {ECO:0000255|PROSITE-ProRule:PRU00316}. NA actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578) heparin binding (GO:0008201)|integrin binding (GO:0005178) endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 TCGCTCTCCTCGCCCCTGACA 0.687 NA C||| 70 0.0139776 0.0008 0.0173 5008 , , NA 16255 0.0565 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 52 56 55 NA NA 6 NA 32017161 1288 2546 3834 SO:0001583 missense X71923 CCDS4736.1 6p21.3 2013-02-11 ENSG00000168477 ENSG00000168477 7148 Fibrinogen C domain containing, Fibronectin type III domain containing 11976 protein-coding gene gene with protein product 600985 TNXB1, TNXB2 NA 8530023 Standard NM_019105 NM_019105 NA Approved TNXBS, XBS, XB uc021yvf.2 P22105 OTTHUMG00000031088 ENST00000375244.3:c.9643G>A chr6.hg19:g.32017161C>T ENSP00000364393:p.Glu3215Lys NA P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7 hg19 0.02 -0.315798 CCTxGCC COVERED 37 0.01694139194139194 2 0.0040650406504065045 6 0.016574585635359115 29 0.050699300699300696 0 0.0 C 11.12 1.544655 0.27563 . . ENSG00000168477 ENST00000375244;ENST00000375247 T;T 0.04502 3.61;3.61 4.43 3.54 0.40534 . 0.426277 0.19972 N 0.101962 T 0.01558 0.0050 L 0.59436 1.845 0.09310 N 1 B 0.22604 0.072 B 0.16722 0.016 T 0.47156 -0.9139 10 0.18710 T 0.47 . 6.0244 0.19646 0.0:0.6862:0.206:0.1078 rs2075563;rs59636114 3213 P22105-3 . K 3215;3213 ENSP00000364393:E3215K;ENSP00000364396:E3213K ENSP00000364393:E3215K E - 1 0 TNXB 32125139 0.002000 0.14202 0.540000 0.28089 0.105000 0.19272 1.081000 0.30791 0.809000 0.34255 0.313000 0.20887 GAG NOVEL TNXB-001 PUTATIVE not_organism_supported|basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000268927.2 2 4.21258 KEEP 0 0 0 14 454 CC 0.995343 0.814653 0 - 3 60 102 0 0 7.148637 33 60 1170 64 ENST00000375244.3 0.083333 0.818465 TNXB 7148 __UNKNOWN__ __UNKNOWN__ 6 32039872 32039872 __UNKNOWN__ Missense_Mutation SNP C C T rs78493656 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:32039872C>T ENST00000375244.3 - 13 5086 c.4885G>A c.(4885-4887)Gag>Aag p.E1629K TNXB_ENST00000375247.2_Missense_Mutation_p.E1629K P22105 TENX_HUMAN tenascin XB 1711 Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}. NA actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578) heparin binding (GO:0008201)|integrin binding (GO:0005178) endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 ATAGTGACCTCCCGCTGATCT 0.587 NA C||| 69 0.013778 0.0008 0.0173 5008 , , NA 16418 0.0556 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 28 29 29 NA NA 6 NA 32039872 1947 4137 6084 SO:0001583 missense X71923 CCDS4736.1 6p21.3 2013-02-11 ENSG00000168477 ENSG00000168477 7148 Fibrinogen C domain containing, Fibronectin type III domain containing 11976 protein-coding gene gene with protein product 600985 TNXB1, TNXB2 NA 8530023 Standard NM_019105 NM_019105 NA Approved TNXBS, XBS, XB uc021yvf.2 P22105 OTTHUMG00000031088 ENST00000375244.3:c.4885G>A chr6.hg19:g.32039872C>T ENSP00000364393:p.Glu1629Lys NA P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7 hg19 0.02 13.817652 CCTxCCG COVERED 36 0.016483516483516484 1 0.0020325203252032522 6 0.016574585635359115 29 0.050699300699300696 0 0.0 C 20.3 3.972031 0.74246 . . ENSG00000168477 ENST00000375244;ENST00000375247 T;T 0.57595 0.39;0.39 5.28 5.28 0.74379 . 0.459817 0.18383 N 0.142918 T 0.42854 0.1221 M 0.64997 1.995 0.28718 N 0.903189 P 0.48764 0.915 P 0.48334 0.574 T 0.41161 -0.9524 10 0.17832 T 0.49 . 15.8223 0.78667 0.0:1.0:0.0:0.0 . 1629 P22105-3 . K 1629 ENSP00000364393:E1629K;ENSP00000364396:E1629K ENSP00000364393:E1629K E - 1 0 TNXB 32147850 0.061000 0.20836 0.966000 0.40874 0.891000 0.51852 1.157000 0.31724 2.471000 0.83476 0.591000 0.81541 GAG NOVEL TNXB-001 PUTATIVE not_organism_supported|basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000268927.2 5 34.007997 KEEP 0 0 0 113 3873 CC 1 1 0 - 15 60 520 0 0 32.003712 350 60 12934 571 ENST00000375244.3 0.041096 1 PPT2 9374 __UNKNOWN__ __UNKNOWN__ 6 32122472 32122472 __UNKNOWN__ Missense_Mutation SNP C C A rs3096696 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:32122472C>A ENST00000324816.6 + 2 669 c.101C>A c.(100-102)gCg>gAg p.A34E PPT2_ENST00000375143.2_Missense_Mutation_p.A34E|PPT2_ENST00000445576.2_Missense_Mutation_p.A34E|PPT2_ENST00000437001.2_5'UTR|PPT2_ENST00000395523.1_Missense_Mutation_p.A34E|PPT2_ENST00000493548.1_3'UTR|PPT2_ENST00000361568.2_Missense_Mutation_p.A40E|PPT2_ENST00000375137.2_Missense_Mutation_p.A34E|PPT2-EGFL8_ENST00000453656.2_3'UTR|PPT2-EGFL8_ENST00000422437.1_Missense_Mutation_p.A34E Q9UMR5 PPT2_HUMAN palmitoyl-protein thioesterase 2 34 NA A -> E (in dbSNP:rs3096696). {ECO:0000269|PubMed:10051407, ECO:0000269|PubMed:14574404, ECO:0000269|PubMed:14656967}. cellular protein modification process (GO:0006464)|macromolecule depalmitoylation (GO:0098734) extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764) palmitoyl hydrolase activity (GO:0098599)|palmitoyl-(protein) hydrolase activity (GO:0008474)|thiolester hydrolase activity (GO:0016790) NS(1)|endometrium(2)|large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1) 17 CCCCACCGCGCGTCCTACAAG 0.662 NA C||| 781 0.15595 0.2103 0.1023 5008 , , NA 14262 0.0377 NA 0.2018 False NA ,,, NA NA NA 2504 0.1953 NA NA NA NA 0 C GLU/ALA,GLU/ALA,GLU/ALA 574,2442 54,466,988 50 56 54 101,101,119 2.6 0.1 6 dbSNP_103 54 1143,4271 112,919,1676 yes missense,missense,missense PPT2 NM_001204103.1,NM_005155.6,NM_138717.2 107,107,107 166,1385,2664 AA,AC,CC 21.1119,19.0318,20.3677 benign,benign,benign 34/303,34/303,40/309 32122472 1717,6713 1508 2707 4215 SO:0001583 missense AF020543 CCDS4740.1, CCDS4742.1 6p21.3 2012-07-02 ENSG00000221988 ENSG00000221988 9374 3.1.2.22 9326 protein-coding gene gene with protein product 603298 NA 9341199, 10051407 Standard NM_138717 NM_138717 NA Approved uc003nzw.3 Q9UMR5 OTTHUMG00000031257 ENST00000324816.6:c.101C>A chr6.hg19:g.32122472C>A ENSP00000320528:p.Ala34Glu NA A2ABC9|A2ABD1|A2ARM7|A2BFH7|A2BFH9|A2BFI2|A8K9L4|B0S868|G8JLE1|O14799|Q0P6K0|Q5JP13|Q5JP14|Q5JQF0|Q5SSX4|Q5SSX5|Q5SSX6|Q5STJ4|Q5STJ5|Q5STJ6|Q6FI80|Q99945 hg19 CCDS4742.1 0.02 10.900332 GCGxGTC COVERED 312 0.14285714285714285 105 0.21341463414634146 33 0.09116022099447514 23 0.04020979020979021 151 0.19920844327176782 C 10.98 1.504887 0.26949 0.190318 0.211119 ENSG00000221988 ENST00000414204;ENST00000361568;ENST00000395523;ENST00000445576;ENST00000324816;ENST00000375137;ENST00000375143;ENST00000424499;ENST00000436118;ENST00000453656 D;D;D;D;D;D;D;D;T 0.94092 -3.35;-3.35;-3.35;-3.35;-3.35;-3.35;-3.35;-3.35;1.42 4.63 2.61 0.31194 . 1.033790 0.07631 N 0.928533 T 0.68732 0.3033 N 0.14661 0.345 0.46458 P 9.460000000000024E-4 P;B;B 0.35226 0.491;0.209;0.116 B;B;B 0.31614 0.133;0.125;0.095 T 0.60367 -0.7277 9 0.02654 T 1 -2.8103 6.931 0.24442 0.0:0.6957:0.1926:0.1117 rs3096696;rs17208035;rs61155654 34;34;40 Q9UMR5-2;Q9UMR5;B0S872 .;PPT2_HUMAN;. E 34;40;34;34;34;34;34;34;34;34 ENSP00000398847:A34E;ENSP00000354608:A40E;ENSP00000378894:A34E;ENSP00000412381:A34E;ENSP00000320528:A34E;ENSP00000364279:A34E;ENSP00000364285:A34E;ENSP00000409877:A34E;ENSP00000395456:A34E ENSP00000320528:A34E A + 2 0 PPT2 32230450 0.006000 0.16342 0.052000 0.19188 0.733000 0.41908 0.937000 0.28951 1.107000 0.41642 0.484000 0.47621 GCG NOVEL PPT2-207 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076552.4 5 56.503391 KEEP 0 0 0 188 6294 CC 1 1 0 + 10 60 343 0 0 20.603618 256 60 8674 627 ENST00000324816.6 0.037594 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 32145993 32145993 __UNKNOWN__ IGR SNP C C G rs3134946 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:32145993C>G NA NA AGPAT1 (120 upstream) : RNF5 (137 downstream) NA NA NA CTTGGCCAGGCGACAGCGTGT 0.488 NA C||| 778 0.155351 0.2095 0.1023 5008 , , NA 19658 0.0377 NA 0.1998 False NA ,,, NA NA NA 2504 0.1953 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.32145993C>G NA hg19 0.02 -0.429891 AGGxGAC COVERED NOVEL 0 0 6.019483 KEEP 0 0 0 20 693 CC 0.999863 0.959727 0 3 60 102 0 0 6.760022 45 60 1678 71 0.0625 0.959859 RNF5 6048 __UNKNOWN__ __UNKNOWN__ 6 32147696 32147696 __UNKNOWN__ Silent SNP G G A rs3130349 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:32147696G>A ENST00000375094.3 + 4 473 c.315G>A c.(313-315)ccG>ccA p.P105P RNF5_ENST00000427134.2_Silent_p.P105P NM_006913.3 NP_008844.1 Q99942 RNF5_HUMAN ring finger protein 5, E3 ubiquitin protein ligase 105 NA cellular protein catabolic process (GO:0044257)|ER-associated misfolded protein catabolic process (GO:0071712)|negative regulation of autophagy (GO:0010507)|protein destabilization (GO:0031648)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|regulation of autophagic vacuole assembly (GO:2000785)|response to bacterium (GO:0009617) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739) ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) endometrium(1)|lung(7)|urinary_tract(2) 10 GACCAGCTCCGGAGAGCAGAG 0.542 NA A||| 667 0.133187 0.1241 0.0865 5008 , , NA 18422 0.0933 NA 0.159 False NA ,,, NA NA NA 2504 0.1933 NA NA NA NA 0 A 500,3906 773.7+/-414.0 29,442,1732 92 107 102 315 -10.3 0.3 6 dbSNP_103 102 1568,7032 742.8+/-407.2 140,1288,2872 yes coding-synonymous RNF5 NM_006913.3 169,1730,4604 AA,AG,GG 18.2326,11.3482,15.9004 105/181 32147696 2068,10938 2203 4300 6503 SO:0001819 synonymous_variant U89336 CCDS4745.1 6p21.31 2013-01-09 2012-02-23 ENSG00000204308 6048 RING-type (C3HC4) zinc fingers 10068 protein-coding gene gene with protein product 602677 ring finger protein 5 NA 9533025 Standard NM_006913 NM_006913 NA Approved NG2, G16, RING5, RMA1 uc031snv.1 Q99942 OTTHUMG00000031093 ENST00000375094.3:c.315G>A chr6.hg19:g.32147696G>A NA A2BFI6|B2R4K3|Q0VDB7|Q9UMQ2 hg19 CCDS4745.1 0.02 12.57194 TCCxGAG COVERED NOVEL RNF5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076133.2 1 72.098826 KEEP 0 2 64 262 9039 GG 1 1 0 + 16 60 567 0 0 36.395272 321 60 11035 789 ENST00000375094.3 0.047478 1 AGER 177 __UNKNOWN__ __UNKNOWN__ 6 32149572 32149572 __UNKNOWN__ Intron SNP G G A rs2853807 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:32149572G>A ENST00000375076.4 - 9 1066 AGER_ENST00000375065.5_Intron|AGER_ENST00000375067.3_Intron|AGER_ENST00000375069.3_Intron|AGER_ENST00000375070.3_Intron|AGER_ENST00000438221.2_Intron|AGER_ENST00000375055.2_Intron|RNF5_ENST00000427134.2_Intron NM_001136.4|NM_001206929.1|NM_001206932.1 NP_001127.1|NP_001193858.1|NP_001193861.1 Q15109 RAGE_HUMAN advanced glycosylation end product-specific receptor NA NA cell surface receptor signaling pathway (GO:0007166)|induction of positive chemotaxis (GO:0050930)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|neuron projection development (GO:0031175)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|response to wounding (GO:0009611) extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) identical protein binding (GO:0042802)|receptor activity (GO:0004872)|S100 protein binding (GO:0044548)|transmembrane signaling receptor activity (GO:0004888) breast(1)|endometrium(1)|lung(5)|pancreas(2) 9 ttggctcatcgcaatctatgc 0.522 NA G||| 184 0.0367412 0.0174 0.0144 5008 , , NA 16138 0.0704 NA 0.007 False NA ,,, NA NA NA 2504 0.0746 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M91211 CCDS4746.1, CCDS4747.1, CCDS56417.1, CCDS56418.1, CCDS75429.1 6p21.3 2013-01-29 ENSG00000204305 ENSG00000204305 177 Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 320 protein-coding gene gene with protein product 600214 NA 7713518 Standard NM_001136 NM_001136 NA Approved RAGE uc003oap.2 Q15109 OTTHUMG00000031120 ENST00000375076.4:c.965-163C>T chr6.hg19:g.32149572G>A NA A2BFI7|A6NKF0|A7Y2U9|B0V176|Q15279|Q3L1R4|Q3L1R5|Q3L1R6|Q3L1R7|Q3L1R8|Q3L1S0|Q86SN1|Q9H2X7|Q9Y3R3|V5R6A3 hg19 CCDS4746.1 0.02 -0.31484 ATCxCAA COVERED NOVEL AGER-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076200.1 1 2.708847 KEEP 0 0 0 9 319 GG 0.99254 0.812359 0 - 3 60 101 0 0 7.052962 33 60 1167 47 ENST00000375076.4 0.083333 0.818465 AGER 177 __UNKNOWN__ __UNKNOWN__ 6 32151934 32151934 __UNKNOWN__ Intron SNP A A G rs3131300 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:32151934A>G ENST00000375076.4 - 1 154 AGER_ENST00000375065.5_Intron|AGER_ENST00000375067.3_Intron|AGER_ENST00000375069.3_5'UTR|AGER_ENST00000538695.1_Intron|AGER_ENST00000375070.3_Intron|AGER_ENST00000438221.2_Intron|AGER_ENST00000375055.2_Intron NM_001136.4|NM_001206929.1|NM_001206932.1 NP_001127.1|NP_001193858.1|NP_001193861.1 Q15109 RAGE_HUMAN advanced glycosylation end product-specific receptor NA NA cell surface receptor signaling pathway (GO:0007166)|induction of positive chemotaxis (GO:0050930)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|neuron projection development (GO:0031175)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|response to wounding (GO:0009611) extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) identical protein binding (GO:0042802)|receptor activity (GO:0004872)|S100 protein binding (GO:0044548)|transmembrane signaling receptor activity (GO:0004888) breast(1)|endometrium(1)|lung(5)|pancreas(2) 9 AGTGGGGTTGAGGGAGTGGCT 0.602 NA G||| 682 0.136182 0.1354 0.0836 5008 , , NA 16864 0.0942 NA 0.16 False NA ,,, NA NA NA 2504 0.1933 NA NA NA NA 0 G ,,,,,,,, 372,2650 25,322,1164 68 47 54 ,,,,,,,, 2.9 0 6 dbSNP_103 54 972,4446 83,806,1820 no intron,intron,intron,intron,intron,intron,intron,intron,intron AGER NM_001136.4,NM_001206929.1,NM_001206932.1,NM_001206934.1,NM_001206936.1,NM_001206940.1,NM_001206954.1,NM_001206966.1,NM_172197.2 ,,,,,,,, 108,1128,2984 GG,GA,AA 17.9402,12.3097,15.9242 ,,,,,,,, ,,,,,,,, 32151934 1344,7096 1511 2709 4220 SO:0001627 intron_variant M91211 CCDS4746.1, CCDS4747.1, CCDS56417.1, CCDS56418.1, CCDS75429.1 6p21.3 2013-01-29 ENSG00000204305 ENSG00000204305 177 Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 320 protein-coding gene gene with protein product 600214 NA 7713518 Standard NM_001136 NM_001136 NA Approved RAGE uc003oap.2 Q15109 OTTHUMG00000031120 ENST00000375076.4:c.52+13T>C chr6.hg19:g.32151934A>G NA A2BFI7|A6NKF0|A7Y2U9|B0V176|Q15279|Q3L1R4|Q3L1R5|Q3L1R6|Q3L1R7|Q3L1R8|Q3L1S0|Q86SN1|Q9H2X7|Q9Y3R3|V5R6A3 hg19 CCDS4746.1 0.02 6.021043 TTGxGGG COVERED NOVEL AGER-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076200.1 5 27.683576 KEEP 0 0 0 92 2937 AA 1 1 0 - 8 60 293 0 0 18.57685 190 60 6708 362 ENST00000375076.4 0.040404 1 PBX2 5089 __UNKNOWN__ __UNKNOWN__ 6 32154285 32154285 __UNKNOWN__ Intron SNP A A G rs204995 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:32154285A>G ENST00000375050.4 - 9 1471 NM_002586.4 NP_002577.2 P40425 PBX2_HUMAN pre-B-cell leukemia homeobox 2 NA NA embryonic limb morphogenesis (GO:0030326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634)|transcription factor complex (GO:0005667) chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134) endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2) 14 AAAACAGAGAAAGCCCTGGGA 0.547 NA A||| 1423 0.284145 0.4372 0.1873 5008 , , NA 18899 0.2222 NA 0.2167 False NA ,,, NA NA NA 2504 0.2791 NA NA NA NA 0 A 1130,1892 222,686,603 40 44 43 2.5 0 6 dbSNP_79 43 1295,4123 148,999,1562 yes intron PBX2 NM_002586.4 370,1685,2165 GG,GA,AA 23.9018,37.3925,28.7322 32154285 2425,6015 1511 2709 4220 SO:0001627 intron_variant CCDS4748.1 6p21.32 2011-06-20 2007-01-30 ENSG00000204304 ENSG00000204304 5089 Homeoboxes / TALE class 8633 protein-coding gene gene with protein product 176311 pre-B-cell leukemia transcription factor 2 NA 7835890 Standard NM_002586 NA Approved G17, HOX12, PBX2MHC uc003oav.1 P40425 OTTHUMG00000031116 ENST00000375050.4:c.1201-34T>C chr6.hg19:g.32154285A>G NA A2BFJ2 hg19 CCDS4748.1 0.02 9.598975 AGAxAGC COVERED NOVEL PBX2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076194.4 7 40.127086 KEEP 0 1 39 147 4544 AA 1 1 0 - 15 60 544 0 0 38.065351 196 60 7087 467 ENST00000375050.4 0.07109 1 PBX2 5089 __UNKNOWN__ __UNKNOWN__ 6 32154998 32154998 __UNKNOWN__ Intron SNP C C T rs204994 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:32154998C>T ENST00000375050.4 - 6 1295 NM_002586.4 NP_002577.2 P40425 PBX2_HUMAN pre-B-cell leukemia homeobox 2 NA NA embryonic limb morphogenesis (GO:0030326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634)|transcription factor complex (GO:0005667) chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134) endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2) 14 AACAGTCAGCCGGGGTGACAG 0.607 NA C||| 1003 0.20028 0.261 0.1556 5008 , , NA 18130 0.127 NA 0.2018 False NA ,,, NA NA NA 2504 0.2239 NA NA NA NA 0 C 722,2298 88,546,876 35 36 36 1.4 0 6 dbSNP_79 36 1220,4196 135,950,1623 yes intron PBX2 NM_002586.4 223,1496,2499 TT,TC,CC 22.5258,23.9073,23.0204 32154998 1942,6494 1510 2708 4218 SO:0001627 intron_variant CCDS4748.1 6p21.32 2011-06-20 2007-01-30 ENSG00000204304 ENSG00000204304 5089 Homeoboxes / TALE class 8633 protein-coding gene gene with protein product 176311 pre-B-cell leukemia transcription factor 2 NA 7835890 Standard NM_002586 NA Approved G17, HOX12, PBX2MHC uc003oav.1 P40425 OTTHUMG00000031116 ENST00000375050.4:c.1024+20G>A chr6.hg19:g.32154998C>T NA A2BFJ2 hg19 CCDS4748.1 0.02 2.196484 AGCxGGG COVERED NOVEL PBX2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076194.4 0 2.407514 KEEP 0 0 0 8 257 CC 0.99257 0.972249 0 - 4 60 151 0 0 10.751582 52 60 1876 68 ENST00000375050.4 0.071429 0.979526 PBX2 5089 __UNKNOWN__ __UNKNOWN__ 6 32155581 32155581 __UNKNOWN__ Intron SNP A A G rs204993 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:32155581A>G ENST00000375050.4 - 5 1005 NM_002586.4 NP_002577.2 P40425 PBX2_HUMAN pre-B-cell leukemia homeobox 2 NA NA embryonic limb morphogenesis (GO:0030326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634)|transcription factor complex (GO:0005667) chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134) endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2) 14 GGAGAAGAGCAGTGAGGAGGA 0.522 NA G||| 1511 0.301717 0.3154 0.1844 5008 , , NA 21923 0.3948 NA 0.2465 False NA ,,, NA NA NA 2504 0.3272 NA NA NA NA 0 G 870,2148 126,618,765 39 31 34 http://www.ncbi.nlm.nih.gov/pubmed?term -5.6 0 6 dbSNP_79 34 1485,3933 203,1079,1427 yes intron PBX2 NM_002586.4 329,1697,2192 GG,GA,AA http://www.ncbi.nlm.nih.gov/pubmed?term 27.4086,28.827,27.9161 32155581 2355,6081 1509 2709 4218 SO:0001627 intron_variant CCDS4748.1 6p21.32 2011-06-20 2007-01-30 ENSG00000204304 ENSG00000204304 5089 Homeoboxes / TALE class 8633 protein-coding gene gene with protein product 176311 pre-B-cell leukemia transcription factor 2 NA 7835890 Standard NM_002586 NA Approved G17, HOX12, PBX2MHC uc003oav.1 P40425 OTTHUMG00000031116 ENST00000375050.4:c.735-22T>C chr6.hg19:g.32155581A>G NA A2BFJ2 hg19 CCDS4748.1 0.02 12.475978 AGCxGTG COVERED NOVEL PBX2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076194.4 5 71.488647 KEEP 0 2 70 262 8282 AA 1 1 0 - 20 60 714 0 0 49.294975 272 60 10053 785 ENST00000375050.4 0.068493 1 NOTCH4 4855 __UNKNOWN__ __UNKNOWN__ 6 32165444 32165444 __UNKNOWN__ Intron SNP A A G rs2071278 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:32165444A>G ENST00000375023.3 - 27 4895 NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 NA NA cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367) cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872) NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 GTAAGCTCAGAGAGAATCAAA 0.468 NA A||| 716 0.142971 0.1014 0.1268 5008 , , NA 19121 0.2093 NA 0.1223 False NA ,,, NA NA NA 2504 0.1636 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS34420.1 6p21.3 2013-01-10 2010-06-24 ENSG00000204301 ENSG00000204301 4855 Ankyrin repeat domain containing 7884 protein-coding gene gene with protein product 164951 Notch (Drosophila) homolog 4, Notch homolog 4 (Drosophila) INT3 NA 7835890 Standard NM_004557 NA Approved uc003obb.3 Q99466 OTTHUMG00000031044 ENST00000375023.3:c.4757-73T>C chr6.hg19:g.32165444A>G NA B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0 hg19 CCDS34420.1 0.02 3.94779 CAGxGAG COVERED NOVEL NOTCH4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076045.2 1 11.733328 KEEP 0 0 0 39 1189 AA 1 1 0 - 8 60 284 0 0 18.930654 131 60 4856 193 ENST00000375023.3 0.057554 1 NOTCH4 4855 __UNKNOWN__ __UNKNOWN__ 6 32168771 32168771 __UNKNOWN__ Silent SNP G G T rs3134942 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:32168771G>T ENST00000375023.3 - 23 4290 c.4152C>A c.(4150-4152)gtC>gtA p.V1384V NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 1384 NA cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367) cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872) NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 CCACACCCATGACCACCACAA 0.602 NA T||| 389 0.0776757 0.0991 0.0476 5008 , , NA 17672 0.0278 NA 0.1034 False NA ,,, NA NA NA 2504 0.0951 NA NA NA NA 0 T 276,2746 11,254,1246 75 50 59 4152 0.8 1 6 dbSNP_103 59 699,4719 45,609,2055 no coding-synonymous NOTCH4 NM_004557.3 56,863,3301 TT,TG,GG 12.9014,9.133,11.5521 1384/2004 32168771 975,7465 1511 2709 4220 SO:0001819 synonymous_variant CCDS34420.1 6p21.3 2013-01-10 2010-06-24 ENSG00000204301 ENSG00000204301 4855 Ankyrin repeat domain containing 7884 protein-coding gene gene with protein product 164951 Notch (Drosophila) homolog 4, Notch homolog 4 (Drosophila) INT3 NA 7835890 Standard NM_004557 NA Approved uc003obb.3 Q99466 OTTHUMG00000031044 ENST00000375023.3:c.4152C>A chr6.hg19:g.32168771G>T NA B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0 hg19 CCDS34420.1 0.02 8.299584 CATxACC COVERED NOVEL NOTCH4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076045.2 1 17.456632 KEEP 0 0 0 58 2028 GG 1 1 0 - 9 60 312 0 0 18.945316 225 60 8414 366 ENST00000375023.3 0.038462 1 NOTCH4 4855 __UNKNOWN__ __UNKNOWN__ 6 32171683 32171683 __UNKNOWN__ Intron SNP T T C rs2071277 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:32171683T>C ENST00000375023.3 - 20 3257 NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 NA NA cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367) cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872) NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 GGAGATTAGATGTCACACACT 0.547 NA C||| 2289 0.457069 0.3812 0.4121 5008 , , NA 19048 0.4286 NA 0.4811 False NA ,,, NA NA NA 2504 0.5961 NA NA NA NA 0 C 1086,1898 210,666,616 46 24 32 -8.8 0 6 dbSNP_96 32 2550,2750 674,1202,774 no intron NOTCH4 NM_004557.3 884,1868,1390 CC,CT,TT http://www.ncbi.nlm.nih.gov/pubmed?term 48.1132,36.3941,43.8918 32171683 3636,4648 1492 2650 4142 SO:0001627 intron_variant CCDS34420.1 6p21.3 2013-01-10 2010-06-24 ENSG00000204301 ENSG00000204301 4855 Ankyrin repeat domain containing 7884 protein-coding gene gene with protein product 164951 Notch (Drosophila) homolog 4, Notch homolog 4 (Drosophila) INT3 NA 7835890 Standard NM_004557 NA Approved uc003obb.3 Q99466 OTTHUMG00000031044 ENST00000375023.3:c.3119-24A>G chr6.hg19:g.32171683T>C NA B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0 hg19 CCDS34420.1 0.02 4.329684 AGAxGTC COVERED NOVEL NOTCH4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076045.2 1 9.925625 KEEP 0 0 0 33 1026 TT 0.999998 0.999998 0 - 5 60 178 0 0 10.794614 137 60 5007 221 ENST00000375023.3 0.035211 1 NOTCH4 4855 __UNKNOWN__ __UNKNOWN__ 6 32184705 32184705 __UNKNOWN__ Intron SNP G G A rs3134798 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:32184705G>A ENST00000375023.3 - 11 2000 NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 NA NA cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367) cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872) NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 GTTCTTTCCAGTGCCTCCCCT 0.502 NA A||| 4129 0.824481 0.8669 0.6902 5008 , , NA 19945 0.9137 NA 0.7256 False NA ,,, NA NA NA 2504 0.8722 NA NA NA NA 0 A 2566,456 1090,386,35 66 68 67 -1 0 6 dbSNP_103 67 3930,1488 1430,1070,209 no intron NOTCH4 NM_004557.3 2520,1456,244 AA,AG,GG 27.464,15.0893,23.0332 32184705 6496,1944 1511 2709 4220 SO:0001627 intron_variant CCDS34420.1 6p21.3 2013-01-10 2010-06-24 ENSG00000204301 ENSG00000204301 4855 Ankyrin repeat domain containing 7884 protein-coding gene gene with protein product 164951 Notch (Drosophila) homolog 4, Notch homolog 4 (Drosophila) INT3 NA 7835890 Standard NM_004557 NA Approved uc003obb.3 Q99466 OTTHUMG00000031044 ENST00000375023.3:c.1861+16C>T chr6.hg19:g.32184705G>A NA B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0 hg19 CCDS34420.1 0.02 15.70794 CCAxTGC COVERED NOVEL NOTCH4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076045.2 2 2.748232 KEEP 0 4 122 52 1859 GG 1 1 0 - 29 60 1046 0 0 74.250306 347 60 12972 499 ENST00000375023.3 0.077128 1 NOTCH4 4855 __UNKNOWN__ __UNKNOWN__ 6 32188872 32188872 __UNKNOWN__ Missense_Mutation SNP C C T rs561090165 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:32188872C>T ENST00000375023.3 - 4 820 c.682G>A c.(682-684)Ggt>Agt p.G228S NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 228 EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}. NA cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367) cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872) NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 CAACGTGGACCCTCCTGCCCC 0.632 NA C||| 9 0.00179712 0.0 0.0 5008 , , NA 20082 0.0089 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 55 49 51 NA NA 6 NA 32188872 1511 2709 4220 SO:0001583 missense CCDS34420.1 6p21.3 2013-01-10 2010-06-24 ENSG00000204301 ENSG00000204301 4855 Ankyrin repeat domain containing 7884 protein-coding gene gene with protein product 164951 Notch (Drosophila) homolog 4, Notch homolog 4 (Drosophila) INT3 NA 7835890 Standard NM_004557 NA Approved uc003obb.3 Q99466 OTTHUMG00000031044 ENST00000375023.3:c.682G>A chr6.hg19:g.32188872C>T ENSP00000364163:p.Gly228Ser NA B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0 hg19 CCDS34420.1 0.02 13.563333 GACxCTC COVERED . . . . . . . . . . C 14.40 2.523577 0.44866 . . ENSG00000204301 ENST00000375023 D 0.97066 -4.23 4.74 2.95 0.34219 EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1); 0.153463 0.30492 N 0.009503 D 0.97564 0.9202 M 0.82323 2.585 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.97110 1.0;0.998 D 0.97277 0.9915 10 0.87932 D 0 . 8.6116 0.33806 0.0:0.8114:0.0:0.1886 . 228;228 Q6P3V5;Q99466 .;NOTC4_HUMAN S 228 ENSP00000364163:G228S ENSP00000364163:G228S G - 1 0 NOTCH4 32296850 0.577000 0.26708 0.001000 0.08648 0.107000 0.19398 3.096000 0.50243 0.608000 0.30000 0.491000 0.48974 GGT NOVEL NOTCH4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076045.2 1 10.533741 KEEP 0 0 0 35 1205 CC 0.999999 0.999999 0 - 11 60 410 0 0 25.555086 303 60 10935 409 ENST00000375023.3 0.035032 1 NOTCH4 4855 __UNKNOWN__ __UNKNOWN__ 6 32190390 32190390 __UNKNOWN__ Missense_Mutation SNP T T G rs915894 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:32190390T>G ENST00000375023.3 - 3 487 c.349A>C c.(349-351)Aag>Cag p.K117Q NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 117 NA K -> Q (in dbSNP:rs915894). {ECO:0000269|PubMed:14574404, ECO:0000269|Ref.4}. cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367) cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872) NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 TCTTCAAGCTTGGCCTGGCAT 0.627 NA G||| 1997 0.398762 0.3714 0.3285 5008 , , NA 18522 0.5109 NA 0.3519 False NA ,,, NA NA NA 2504 0.4182 NA NA NA NA 0 G GLN/LYS 1664,2742 646.3+/-398.3 324,1016,863 66 70 69 349 2.4 0 6 dbSNP_86 69 3177,5423 645.4+/-400.2 590,1997,1713 yes missense NOTCH4 NM_004557.3 53 914,3013,2576 GG,GT,TT 36.9419,37.7667,37.2213 benign 117/2004 32190390 4841,8165 2203 4300 6503 SO:0001583 missense CCDS34420.1 6p21.3 2013-01-10 2010-06-24 ENSG00000204301 ENSG00000204301 4855 Ankyrin repeat domain containing 7884 protein-coding gene gene with protein product 164951 Notch (Drosophila) homolog 4, Notch homolog 4 (Drosophila) INT3 NA 7835890 Standard NM_004557 NA Approved uc003obb.3 Q99466 OTTHUMG00000031044 ENST00000375023.3:c.349A>C chr6.hg19:g.32190390T>G ENSP00000364163:p.Lys117Gln NA B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0 hg19 CCDS34420.1 0.02 4.745329 GCTxGGC COVERED 836 0.38278388278388276 159 0.3231707317073171 120 0.3314917127071823 286 0.5 271 0.3575197889182058 G 3.312 -0.140568 0.06669 0.377667 0.369419 ENSG00000204301 ENST00000375023 D 0.91843 -2.92 3.28 2.36 0.29203 . 2.488560 0.01877 N 0.037616 T 0.74291 0.3697 N 0.12853 0.265 0.09310 P 0.99999858293 B;B 0.02656 0.0;0.0 B;B 0.04013 0.001;0.0 T 0.58752 -0.7581 9 0.38643 T 0.18 . 9.6611 0.39956 0.0:0.0:0.6258:0.3742 rs915894;rs17604639;rs915894 117;117 Q6P3V5;Q99466 .;NOTC4_HUMAN Q 117 ENSP00000364163:K117Q ENSP00000364163:K117Q K - 1 0 NOTCH4 32298368 0.008000 0.16893 0.025000 0.17156 0.073000 0.16967 1.331000 0.33793 0.361000 0.24292 -0.217000 0.12591 AAG NOVEL NOTCH4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076045.2 0 3.844475 KEEP 0 1 35 25 750 TT 0.999957 0.999944 0 - 5 60 180 0 0 11.64598 101 60 3654 164 ENST00000375023.3 0.04717 0.999987 NOTCH4 4855 __UNKNOWN__ __UNKNOWN__ 6 32190484 32190484 __UNKNOWN__ Silent SNP G G A rs8192569 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:32190484G>A ENST00000375023.3 - 3 393 c.255C>T c.(253-255)ccC>ccT p.P85P NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 85 EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}. NA cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367) cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872) NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 CTAGGGGAGCGGGAAGCAGGG 0.627 NA G||| 1077 0.215056 0.3306 0.1412 5008 , , NA 18266 0.2371 NA 0.1024 False NA ,,, NA NA NA 2504 0.2045 NA NA NA NA 0 G 1251,3155 428.7+/-342.0 182,887,1134 61 65 64 255 0 0.1 6 dbSNP_117 64 771,7829 183.0+/-231.3 49,673,3578 no coding-synonymous NOTCH4 NM_004557.3 231,1560,4712 AA,AG,GG 8.9651,28.3931,15.5467 85/2004 32190484 2022,10984 2203 4300 6503 SO:0001819 synonymous_variant CCDS34420.1 6p21.3 2013-01-10 2010-06-24 ENSG00000204301 ENSG00000204301 4855 Ankyrin repeat domain containing 7884 protein-coding gene gene with protein product 164951 Notch (Drosophila) homolog 4, Notch homolog 4 (Drosophila) INT3 NA 7835890 Standard NM_004557 NA Approved uc003obb.3 Q99466 OTTHUMG00000031044 ENST00000375023.3:c.255C>T chr6.hg19:g.32190484G>A NA B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0 hg19 CCDS34420.1 0.02 4.308993 AGCxGGA COVERED NOVEL NOTCH4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076045.2 0 5.953229 KEEP 0 1 32 31 1069 GG 0.999997 0.999997 0 - 7 60 257 0 0 17.135152 126 60 4413 206 ENST00000375023.3 0.052632 1 XXbac-BPG154L12.4 0 __UNKNOWN__ __UNKNOWN__ 6 32223632 32223632 __UNKNOWN__ RNA SNP G G A rs3132966 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:32223632G>A ENST00000425033.1 + 0 145 NA NA NA tctgtgggtcgagttgttttc 0.517 NA G||| 1040 0.207668 0.2209 0.0994 5008 , , NA 19240 0.2143 NA 0.2227 False NA ,,, NA NA NA 2504 0.2444 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000425033.1: chr6.hg19:g.32223632G>A NA hg19 0.02 3.537184 GTCxAGT COVERED NOVEL XXbac-BPG154L12.4-001 KNOWN basic|exp_conf antisense NA antisense OTTHUMT00000316882.1 0 22.57057 KEEP 0 0 0 75 2519 GG 1 1 0 + 5 60 172 0 0 10.387836 125 70 4396 255 ENST00000425033.1 0.038462 1 C6orf10 10665 __UNKNOWN__ __UNKNOWN__ 6 32256418 32256418 __UNKNOWN__ Missense_Mutation SNP T T C rs9268142 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:32256418T>C ENST00000442822.2 - 26 1580 c.1388A>G c.(1387-1389)tAt>tGt p.Y463C Q5SRN2 CF010_HUMAN chromosome 6 open reading frame 10 0 NA integral component of membrane (GO:0016021)|nucleus (GO:0005634) cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1) 25 TGGATGATGATAGATAAGAGT 0.388 NA T||| 1086 0.216853 0.23 0.1282 5008 , , NA 16116 0.2163 NA 0.2326 False NA ,,, NA NA NA 2504 0.2464 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense U60665 CCDS34422.1, CCDS69082.1, CCDS75430.1 6p21.32 2012-11-20 ENSG00000204296 ENSG00000204296 10665 13922 protein-coding gene gene with protein product testis specific basic protein NA 10803852 Standard NM_006781 XM_005248810 NA Approved TSBP uc021yvs.1 Q5SRN2 OTTHUMG00000031107 ENST00000442822.2:c.1388A>G chr6.hg19:g.32256418T>C ENSP00000411164:p.Tyr463Cys NA A2BET1|A2BET2|A6NME2|B0S7R2|B0S7R3|E9PMB1|Q5SPI9|Q5SPJ0|Q5SPK9|Q5SPL0|Q5SRN3|Q5TG25|Q5TG26|Q8N4B6 hg19 0.02 29.237405 TGAxAGA COVERED 479 0.21932234432234432 136 0.2764227642276423 51 0.1408839779005525 110 0.19230769230769232 182 0.24010554089709762 T 0.078 -1.188235 0.01607 . . ENSG00000204296 ENST00000442822 T 0.04317 3.65 2.01 2.01 0.26516 . . . . . T 0.01800 0.0057 . . . 0.22996 P 0.99845853 B 0.31705 0.336 B 0.36244 0.22 T 0.43572 -0.9383 7 0.52906 T 0.07 . 6.0251 0.19650 0.0:0.0:0.0:1.0 rs9268142;rs17201974;rs9268142 463 C9J9T8 . C 463 ENSP00000411164:Y463C ENSP00000411164:Y463C Y - 2 0 C6orf10 32364396 0.867000 0.29959 0.525000 0.27900 0.062000 0.15995 1.755000 0.38379 1.196000 0.43129 0.418000 0.28097 TAT NOVEL C6orf10-004 PUTATIVE basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000383393.1 6 33.400411 KEEP 0 0 0 111 3532 TT 1 1 0 - 18 60 688 0 0 41.395365 654 60 23978 920 ENST00000442822.2 0.026786 1 C6orf10 10665 __UNKNOWN__ __UNKNOWN__ 6 32261952 32261952 __UNKNOWN__ Intron SNP G G A rs10947251 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:32261952G>A ENST00000442822.2 - 25 803 C6orf10_ENST00000375007.4_Intron|C6orf10_ENST00000527965.1_Intron|C6orf10_ENST00000533191.1_Intron|C6orf10_ENST00000447241.2_Intron|C6orf10_ENST00000375015.4_Intron Q5SRN2 CF010_HUMAN chromosome 6 open reading frame 10 NA NA integral component of membrane (GO:0016021)|nucleus (GO:0005634) cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1) 25 TATCTAAAATGATGGTTCTCT 0.254 NA G||| 533 0.10643 0.0976 0.0303 5008 , , NA 17125 0.1994 NA 0.0746 False NA ,,, NA NA NA 2504 0.1094 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U60665 CCDS34422.1, CCDS69082.1, CCDS75430.1 6p21.32 2012-11-20 ENSG00000204296 ENSG00000204296 10665 13922 protein-coding gene gene with protein product testis specific basic protein NA 10803852 Standard NM_006781 XM_005248810 NA Approved TSBP uc021yvs.1 Q5SRN2 OTTHUMG00000031107 ENST00000442822.2:c.611-140C>T chr6.hg19:g.32261952G>A NA A2BET1|A2BET2|A6NME2|B0S7R2|B0S7R3|E9PMB1|Q5SPI9|Q5SPJ0|Q5SPK9|Q5SPL0|Q5SRN3|Q5TG25|Q5TG26|Q8N4B6 hg19 0.02 1.865348 AATxATG COVERED NOVEL C6orf10-004 PUTATIVE basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000383393.1 3 4.514201 KEEP 0 0 0 15 502 GG 0.99649 0.993663 0 - 5 60 177 0 0 12.233327 66 60 2473 89 ENST00000442822.2 0.070423 0.997163 C6orf10 10665 __UNKNOWN__ __UNKNOWN__ 6 32301804 32301804 __UNKNOWN__ Intron SNP G G C rs9391777 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:32301804G>C ENST00000442822.2 - 14 596 C6orf10_ENST00000375007.4_Intron|C6orf10_ENST00000527965.1_Intron|C6orf10_ENST00000533191.1_Intron|C6orf10_ENST00000447241.2_Intron|C6orf10_ENST00000375015.4_Intron Q5SRN2 CF010_HUMAN chromosome 6 open reading frame 10 NA NA integral component of membrane (GO:0016021)|nucleus (GO:0005634) cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1) 25 TGAAGTAGAAGTCTTATGATA 0.328 NA C||| 1638 0.327077 0.1369 0.5 5008 , , NA 18781 0.3601 NA 0.3708 False NA ,,, NA NA NA 2504 0.3824 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U60665 CCDS34422.1, CCDS69082.1, CCDS75430.1 6p21.32 2012-11-20 ENSG00000204296 ENSG00000204296 10665 13922 protein-coding gene gene with protein product testis specific basic protein NA 10803852 Standard NM_006781 XM_005248810 NA Approved TSBP uc021yvs.1 Q5SRN2 OTTHUMG00000031107 ENST00000442822.2:c.403+1409C>G chr6.hg19:g.32301804G>C NA A2BET1|A2BET2|A6NME2|B0S7R2|B0S7R3|E9PMB1|Q5SPI9|Q5SPJ0|Q5SPK9|Q5SPL0|Q5SRN3|Q5TG25|Q5TG26|Q8N4B6 hg19 0.02 6.847554 GAAxTCT COVERED NOVEL C6orf10-004 PUTATIVE basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000383393.1 3 5.253531 KEEP 0 1 36 30 1083 GG 0.999997 0.999997 0 - 8 60 297 0 0 19.958269 142 60 5329 236 ENST00000442822.2 0.053333 1 C6orf10 10665 __UNKNOWN__ __UNKNOWN__ 6 32317635 32317635 __UNKNOWN__ Intron SNP G G A rs2076537 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:32317635G>A ENST00000442822.2 - 8 431 C6orf10_ENST00000375007.4_Intron|C6orf10_ENST00000527965.1_Intron|C6orf10_ENST00000533191.1_Intron|C6orf10_ENST00000447241.2_Intron|C6orf10_ENST00000375015.4_Intron Q5SRN2 CF010_HUMAN chromosome 6 open reading frame 10 NA NA integral component of membrane (GO:0016021)|nucleus (GO:0005634) cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1) 25 GTGGAAAAGAGGATAGAAATG 0.378 NA G||| 2247 0.448682 0.5628 0.2853 5008 , , NA 21129 0.4325 NA 0.4026 False NA ,,, NA NA NA 2504 0.4744 NA NA NA NA 0 G 1627,1395 439,749,323 107 111 110 -2.5 0 6 dbSNP_96 110 1957,3461 359,1239,1111 no intron C6orf10 NM_006781.3 798,1988,1434 AA,AG,GG 36.1203,46.1615,42.4645 32317635 3584,4856 1511 2709 4220 SO:0001627 intron_variant U60665 CCDS34422.1, CCDS69082.1, CCDS75430.1 6p21.32 2012-11-20 ENSG00000204296 ENSG00000204296 10665 13922 protein-coding gene gene with protein product testis specific basic protein NA 10803852 Standard NM_006781 XM_005248810 NA Approved TSBP uc021yvs.1 Q5SRN2 OTTHUMG00000031107 ENST00000442822.2:c.239-98C>T chr6.hg19:g.32317635G>A NA A2BET1|A2BET2|A6NME2|B0S7R2|B0S7R3|E9PMB1|Q5SPI9|Q5SPJ0|Q5SPK9|Q5SPL0|Q5SRN3|Q5TG25|Q5TG26|Q8N4B6 hg19 0.02 11.335061 AGAxGAT COVERED NOVEL C6orf10-004 PUTATIVE basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000383393.1 3 13.242678 KEEP 0 0 0 44 1574 GG 1 1 0 - 10 60 376 0 0 23.738709 264 60 9844 385 ENST00000442822.2 0.036496 1 C6orf10 10665 __UNKNOWN__ __UNKNOWN__ 6 32317859 32317859 __UNKNOWN__ Intron SNP T T C rs761189 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:32317859T>C ENST00000442822.2 - 8 431 C6orf10_ENST00000375007.4_Intron|C6orf10_ENST00000527965.1_Intron|C6orf10_ENST00000533191.1_Intron|C6orf10_ENST00000447241.2_Intron|C6orf10_ENST00000375015.4_Intron Q5SRN2 CF010_HUMAN chromosome 6 open reading frame 10 NA NA integral component of membrane (GO:0016021)|nucleus (GO:0005634) cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1) 25 CTTTCATTGGTGATTCTGCTG 0.353 NA T||| 2247 0.448682 0.5628 0.2853 5008 , , NA 20343 0.4325 NA 0.4026 False NA ,,, NA NA NA 2504 0.4744 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U60665 CCDS34422.1, CCDS69082.1, CCDS75430.1 6p21.32 2012-11-20 ENSG00000204296 ENSG00000204296 10665 13922 protein-coding gene gene with protein product testis specific basic protein NA 10803852 Standard NM_006781 XM_005248810 NA Approved TSBP uc021yvs.1 Q5SRN2 OTTHUMG00000031107 ENST00000442822.2:c.239-322A>G chr6.hg19:g.32317859T>C NA A2BET1|A2BET2|A6NME2|B0S7R2|B0S7R3|E9PMB1|Q5SPI9|Q5SPJ0|Q5SPK9|Q5SPL0|Q5SRN3|Q5TG25|Q5TG26|Q8N4B6 hg19 0.02 23.943228 TGGxGAT COVERED 971 0.44459706959706957 305 0.6199186991869918 118 0.3259668508287293 239 0.4178321678321678 309 0.4076517150395778 T 7.510 0.654432 0.14580 . . ENSG00000204296 ENST00000375002 . . . 2.69 -0.0231 0.13945 . . . . . T 0.09905 0.0243 . . . 0.80722 P 0.0 . . . . . . T 0.28554 -1.0040 4 0.21014 T 0.42 . 3.2166 0.06701 0.2403:0.0:0.2477:0.512 rs761189;rs7454636;rs28648048;rs36132215 . . . A 83 . ENSP00000364141:T83A T - 1 0 C6orf10 32425837 0.000000 0.05858 0.003000 0.11579 0.202000 0.24057 -0.377000 0.07456 -0.001000 0.14495 0.459000 0.35465 ACC NOVEL C6orf10-004 PUTATIVE basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000383393.1 7 26.474425 KEEP 0 0 0 88 2689 TT 1 1 0 - 17 60 621 0 0 37.299513 533 60 19244 795 ENST00000442822.2 0.030909 1 C6orf10 10665 __UNKNOWN__ __UNKNOWN__ 6 32317973 32317973 __UNKNOWN__ Intron SNP A A G rs761188 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:32317973A>G ENST00000442822.2 - 8 431 C6orf10_ENST00000375007.4_Intron|C6orf10_ENST00000527965.1_Intron|C6orf10_ENST00000533191.1_Intron|C6orf10_ENST00000447241.2_Intron|C6orf10_ENST00000375015.4_Intron Q5SRN2 CF010_HUMAN chromosome 6 open reading frame 10 NA NA integral component of membrane (GO:0016021)|nucleus (GO:0005634) cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1) 25 ACACCAAACAATTACCACCTA 0.393 NA A||| 2247 0.448682 0.5628 0.2853 5008 , , NA 18163 0.4325 NA 0.4026 False NA ,,, NA NA NA 2504 0.4744 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U60665 CCDS34422.1, CCDS69082.1, CCDS75430.1 6p21.32 2012-11-20 ENSG00000204296 ENSG00000204296 10665 13922 protein-coding gene gene with protein product testis specific basic protein NA 10803852 Standard NM_006781 XM_005248810 NA Approved TSBP uc021yvs.1 Q5SRN2 OTTHUMG00000031107 ENST00000442822.2:c.239-436T>C chr6.hg19:g.32317973A>G NA A2BET1|A2BET2|A6NME2|B0S7R2|B0S7R3|E9PMB1|Q5SPI9|Q5SPJ0|Q5SPK9|Q5SPL0|Q5SRN3|Q5TG25|Q5TG26|Q8N4B6 hg19 0.02 12.777444 ACAxTTA COVERED NOVEL C6orf10-004 PUTATIVE basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000383393.1 4 19.256687 KEEP 0 0 0 64 1975 AA 1 1 0 - 11 60 398 0 0 24.191433 314 60 11456 443 ENST00000442822.2 0.033846 1 C6orf10 10665 __UNKNOWN__ __UNKNOWN__ 6 32318036 32318036 __UNKNOWN__ Intron SNP A A G rs761187 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:32318036A>G ENST00000442822.2 - 8 431 C6orf10_ENST00000375007.4_Intron|C6orf10_ENST00000527965.1_Intron|C6orf10_ENST00000533191.1_Intron|C6orf10_ENST00000447241.2_Intron|C6orf10_ENST00000375015.4_Intron Q5SRN2 CF010_HUMAN chromosome 6 open reading frame 10 NA NA integral component of membrane (GO:0016021)|nucleus (GO:0005634) cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1) 25 CCCTATGGAGATGAAGAATAG 0.373 NA A||| 1606 0.320687 0.1286 0.4928 5008 , , NA 18659 0.3562 NA 0.3678 False NA ,,, NA NA NA 2504 0.3732 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U60665 CCDS34422.1, CCDS69082.1, CCDS75430.1 6p21.32 2012-11-20 ENSG00000204296 ENSG00000204296 10665 13922 protein-coding gene gene with protein product testis specific basic protein NA 10803852 Standard NM_006781 XM_005248810 NA Approved TSBP uc021yvs.1 Q5SRN2 OTTHUMG00000031107 ENST00000442822.2:c.239-499T>C chr6.hg19:g.32318036A>G NA A2BET1|A2BET2|A6NME2|B0S7R2|B0S7R3|E9PMB1|Q5SPI9|Q5SPJ0|Q5SPK9|Q5SPL0|Q5SRN3|Q5TG25|Q5TG26|Q8N4B6 hg19 0.02 6.014951 GAGxTGA COVERED NOVEL C6orf10-004 PUTATIVE basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000383393.1 3 5.114545 KEEP 0 0 0 17 509 AA 0.999366 0.999366 0 - 6 60 213 0 0 12.631475 182 60 6625 220 ENST00000442822.2 0.031915 1 C6orf10 10665 __UNKNOWN__ __UNKNOWN__ 6 32335628 32335628 __UNKNOWN__ Intron SNP A A T rs9268378 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:32335628A>T ENST00000442822.2 - 4 359 C6orf10_ENST00000375007.4_Intron|C6orf10_ENST00000527965.1_Intron|C6orf10_ENST00000533191.1_Intron|C6orf10_ENST00000447241.2_Intron|C6orf10_ENST00000375015.4_Intron Q5SRN2 CF010_HUMAN chromosome 6 open reading frame 10 NA NA integral component of membrane (GO:0016021)|nucleus (GO:0005634) cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1) 25 TCATGCTCAAATGGAGATGAG 0.338 NA A||| 1739 0.347244 0.441 0.2161 5008 , , NA 19458 0.4157 NA 0.2545 False NA ,,, NA NA NA 2504 0.3384 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U60665 CCDS34422.1, CCDS69082.1, CCDS75430.1 6p21.32 2012-11-20 ENSG00000204296 ENSG00000204296 10665 13922 protein-coding gene gene with protein product testis specific basic protein NA 10803852 Standard NM_006781 XM_005248810 NA Approved TSBP uc021yvs.1 Q5SRN2 OTTHUMG00000031107 ENST00000442822.2:c.166+73T>A chr6.hg19:g.32335628A>T NA A2BET1|A2BET2|A6NME2|B0S7R2|B0S7R3|E9PMB1|Q5SPI9|Q5SPJ0|Q5SPK9|Q5SPL0|Q5SRN3|Q5TG25|Q5TG26|Q8N4B6 hg19 0.02 1.733759 CAAxTGG COVERED NOVEL C6orf10-004 PUTATIVE basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000383393.1 1 2.707713 KEEP 0 0 0 9 273 AA 0.99254 0.99222 0 - 4 60 142 0 0 9.085766 82 60 2996 106 ENST00000442822.2 0.046512 0.999678 C6orf10 10665 __UNKNOWN__ __UNKNOWN__ 6 32335657 32335657 __UNKNOWN__ Intron SNP A A G rs114437758 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:32335657A>G ENST00000442822.2 - 4 359 C6orf10_ENST00000375007.4_Intron|C6orf10_ENST00000527965.1_Intron|C6orf10_ENST00000533191.1_Intron|C6orf10_ENST00000447241.2_Intron|C6orf10_ENST00000375015.4_Intron Q5SRN2 CF010_HUMAN chromosome 6 open reading frame 10 NA NA integral component of membrane (GO:0016021)|nucleus (GO:0005634) cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1) 25 CACTCTAAAGAGTATATTCCT 0.353 NA A||| 235 0.0469249 0.0 0.0115 5008 , , NA 19504 0.1558 NA 0.0398 False NA ,,, NA NA NA 2504 0.0307 NA NA NA NA 0 A 11,3011 0,11,1500 69 66 67 3.6 0 6 dbSNP_130 67 150,5266 4,142,2562 no intron C6orf10 NM_006781.3 4,153,4062 GG,GA,AA 2.7696,0.364,1.908 32335657 161,8277 1511 2708 4219 SO:0001627 intron_variant U60665 CCDS34422.1, CCDS69082.1, CCDS75430.1 6p21.32 2012-11-20 ENSG00000204296 ENSG00000204296 10665 13922 protein-coding gene gene with protein product testis specific basic protein NA 10803852 Standard NM_006781 XM_005248810 NA Approved TSBP uc021yvs.1 Q5SRN2 OTTHUMG00000031107 ENST00000442822.2:c.166+44T>C chr6.hg19:g.32335657A>G NA A2BET1|A2BET2|A6NME2|B0S7R2|B0S7R3|E9PMB1|Q5SPI9|Q5SPJ0|Q5SPK9|Q5SPL0|Q5SRN3|Q5TG25|Q5TG26|Q8N4B6 hg19 0.02 5.111036 AAGxGTA COVERED NOVEL C6orf10-004 PUTATIVE basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000383393.1 0 4.514191 KEEP 0 0 0 15 493 AA 0.99649 0.996483 0 - 8 60 293 0 0 20.675856 102 60 3652 144 ENST00000442822.2 0.072727 0.999993 C6orf10 10665 __UNKNOWN__ __UNKNOWN__ 6 32339548 32339548 __UNKNOWN__ 5'UTR SNP G G A rs2073045 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:32339548G>A ENST00000442822.2 - 0 128 C6orf10_ENST00000375007.4_5'UTR|C6orf10_ENST00000527965.1_5'UTR|C6orf10_ENST00000533191.1_5'UTR|C6orf10_ENST00000447241.2_5'UTR|C6orf10_ENST00000375015.4_5'UTR Q5SRN2 CF010_HUMAN chromosome 6 open reading frame 10 NA NA integral component of membrane (GO:0016021)|nucleus (GO:0005634) cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1) 25 AGAGATCAAGGTAAAACGAAA 0.433 NA A||| 1317 0.262979 0.3011 0.3213 5008 , , NA 20734 0.1071 NA 0.3509 False NA ,,, NA NA NA 2504 0.2403 NA NA NA NA 0 A 417,967 60,297,335 288 230 248 -1.6 0 6 dbSNP_96 248 1157,2025 205,747,639 no utr-5 C6orf10 NM_006781.3 265,1044,974 AA,AG,GG 36.3608,30.1301,34.4722 32339548 1574,2992 692 1591 2283 SO:0001623 5_prime_UTR_variant U60665 CCDS34422.1, CCDS69082.1, CCDS75430.1 6p21.32 2012-11-20 ENSG00000204296 ENSG00000204296 10665 13922 protein-coding gene gene with protein product testis specific basic protein NA 10803852 Standard NM_006781 XM_005248810 NA Approved TSBP uc021yvs.1 Q5SRN2 OTTHUMG00000031107 ENST00000442822.2:c.-65C>T chr6.hg19:g.32339548G>A NA A2BET1|A2BET2|A6NME2|B0S7R2|B0S7R3|E9PMB1|Q5SPI9|Q5SPJ0|Q5SPK9|Q5SPL0|Q5SRN3|Q5TG25|Q5TG26|Q8N4B6 hg19 0.02 28.421034 AAGxTAA COVERED NOVEL C6orf10-004 PUTATIVE basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000383393.1 2 20.838259 KEEP 0 2 65 92 3277 GG 1 1 0 - 20 60 748 0 0 44.950665 678 60 24782 937 ENST00000442822.2 0.028653 1 HLA-DRB5 3127 __UNKNOWN__ __UNKNOWN__ 6 32497905 32497905 __UNKNOWN__ Silent SNP G G T rs71549219 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:32497905G>T ENST00000374975.3 - 1 159 c.97C>A c.(97-99)Cga>Aga p.R33R NM_002125.3 NP_002116.2 major histocompatibility complex, class II, DR beta 5 NA NA NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2) 10 CACTTACGTCGGGTGTCCCCA 0.532 NA NA NA NA NA NA NA NA NA NA NA 0 102 104 103 NA NA 6 NA 32497905 2203 4300 6503 SO:0001819 synonymous_variant CCDS4751.1 6p21.3 2013-01-11 ENSG00000198502 ENSG00000198502 3127 Histocompatibility complex, Immunoglobulin superfamily / C1-set domain containing 4953 protein-coding gene gene with protein product 604776 NA Standard NM_002125 NM_002125 NA Approved uc003obj.3 Q30154 OTTHUMG00000031027 ENST00000374975.3:c.97C>A chr6.hg19:g.32497905G>T NA hg19 CCDS4751.1 0.02 4.670996 GTCxGGT COVERED NOVEL HLA-DRB5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076022.2 1 7.05625 KEEP 0 1 30 34 1156 GG 1 0.999999 0 - 11 60 415 0 0 32.302882 78 60 2573 209 ENST00000374975.3 0.123596 1 HLA-DRB6 3128 __UNKNOWN__ __UNKNOWN__ 6 32521026 32521026 __UNKNOWN__ RNA SNP T T G rs113459411 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:32521026T>G ENST00000411500.1 - 0 875 NR_001298.1 major histocompatibility complex, class II, DR beta 6 (pseudogene) NA NA NA GGAGTTTTGGTGTAAATTGCC 0.438 NA T||| 1384 0.276358 0.1452 0.3804 5008 , , NA 17989 0.3224 NA 0.3111 False NA ,,, NA NA NA 2504 0.2965 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA L76566 6p21.3 2011-07-08 ENSG00000229391 ENSG00000229391 3128 Histocompatibility complex 4954 pseudogene pseudogene NA 1529427, 10436177 Standard NR_001298 NR_001298 NA Approved uc003obn.1 OTTHUMG00000031028 ENST00000411500.1: chr6.hg19:g.32521026T>G NA hg19 0.02 1.903724 TGGxGTA COVERED NOVEL HLA-DRB6-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000272900.1 1 2.405601 KEEP 0 0 0 8 228 TT 0.99257 0.99157 0 - 4 60 141 0 0 9.512787 60 60 2064 91 ENST00000411500.1 0.0625 0.998993 HLA-DRB1 3123 __UNKNOWN__ __UNKNOWN__ 6 32549416 32549416 __UNKNOWN__ Silent SNP C C T rs16822692 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:32549416C>T ENST00000360004.5 - 3 675 c.570G>A c.(568-570)ctG>ctA p.L190L NM_002124.3 NP_002115.2 Q30167 2B1A_HUMAN major histocompatibility complex, class II, DR beta 1 190 Beta-2.|Ig-like C1-type. NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852) clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658) large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1) 10 GAACTGTTTCCAGCATCACCA 0.552 NA Multiple Myeloma(14;0.17) NA NA NA NA NA NA NA NA NA NA 0 141 148 145 NA NA 6 NA 32549416 1511 2709 4220 SO:0001819 synonymous_variant AJ297583 CCDS47409.1 6p21.3 2013-01-11 ENSG00000196126 ENSG00000196126 3123 Histocompatibility complex, Immunoglobulin superfamily / C1-set domain containing 4948 protein-coding gene gene with protein product 142857 HLA-DR1B NA Standard NM_002124 NM_001243965 NA Approved uc011eri.2 P01911 OTTHUMG00000031196 ENST00000360004.5:c.570G>A chr6.hg19:g.32549416C>T NA P01914|Q9MYF5 hg19 CCDS47409.1 0.02 13.719022 TTCxAGC COVERED NOVEL HLA-DRB1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076393.3 3 8.550834 KEEP 5 4 124 72 2492 CC 1 1 0 - 13 47 469 0 0 31.457821 215 60 8057 481 ENST00000360004.5 0.057018 1 HLA-DQB1 3119 __UNKNOWN__ __UNKNOWN__ 6 32630047 32630047 __UNKNOWN__ Intron SNP A A G rs9274038 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:32630047A>G ENST00000399082.3 - 2 154 HLA-DQB1_ENST00000434651.2_Intron|HLA-DQB1_ENST00000399079.3_Intron|HLA-DQB1_ENST00000374943.4_Intron|HLA-DQB1_ENST00000399084.1_Intron|XXbac-BPG254F23.6_ENST00000443574.1_RNA P01920 DQB1_HUMAN major histocompatibility complex, class II, DQ beta 1 NA NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|immune response (GO:0006955)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852) clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658) MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605) breast(1)|large_intestine(1)|lung(1)|pancreas(1) 4 "Insulin(DB00071) AACAGACAGGAAAAGACATAG 0.542 NA T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjögren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia A||| 883 0.176318 0.2065 0.1916 5008 , , NA 9094 0.127 NA 0.1938 False NA ,,, NA NA NA 2504 0.1575 NA NA NA Esophageal Squamous(151;720 1825 15000 40336 43415) NA 0 18 16 17 NA NA 6 NA 32630047 1566 3313 4879 SO:0001627 intron_variant Familial Cancer Database incl.: Mycosis Fungoides, Sezary syndrome, Adult T-cell Lymphoma;Sjogren syndrome; ;AIMAH, Cushing disease, Adrenal, Familial CCDS43451.1, CCDS59006.1 6p21.3 2013-01-11 ENSG00000179344 ENSG00000179344 3119 Histocompatibility complex, Immunoglobulin superfamily / C1-set domain containing 4944 protein-coding gene gene with protein product 604305 HLA-DQB NA Standard NM_002123 NM_001243962 NA Approved IDDM1, CELIAC1 uc031snw.1 P01920 OTTHUMG00000031124 ENST00000399082.3:c.110-22T>C chr6.hg19:g.32630047A>G NA A1KR27|A2RPH3|A4Q9R4|A4USG2|A4USG5|A6N8I7|A9YQA0|B0S7Y7|B1A0K6|B1GXI3|B3VLT3|B5BLN7|B7VU69|C0MQ34|C0MQ35|C8ZL52|C8ZLJ8|C8ZLJ9|C9DRQ3|O19708|O19713|O19724|O62861|O78046|O78221|O78223|O98034|O98201|P01917|P01918|P01919|P03992|P05537|P79482|P79526|P79544|P79551|Q08GC8|Q09035|Q0E4V9|Q1M312|Q29731|Q29877|Q29884|Q29915|Q29966|Q2P9N3|Q2QK85|Q30061|Q30075|Q30076|Q30080|Q30081|Q30082|Q30083|Q30084|Q30089|Q30095|Q31633|Q38I47|Q45UE3|Q4QZB5|Q53I44|Q564J6|Q5G841|Q5ISH1|Q5ISH3|Q5W1E1|Q5Y7G8|Q643R4|Q6B9X1|Q70VH8|Q7YP69|Q8HWH0|Q8MH58|Q8SNB4|Q8SND1|Q8SP70|Q8WMA3|Q9BD17|Q9MYH2|Q9TPA9|Q9XRY6|Q9XRY7|Q9XRZ2 hg19 0.02 1.811011 AGGxAAA COVERED NOVEL HLA-DQB1-007 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000276131.1 1 6.61939 KEEP 0 0 0 22 667 AA 0.999879 0.999841 0 - 8 40 256 0 0 19.663231 45 60 1548 151 ENST00000399082.3 0.150943 0.999962 HLA-DQB1 3119 __UNKNOWN__ __UNKNOWN__ 6 32630053 32630053 __UNKNOWN__ Intron SNP C C T rs67216335|rs201058236|rs28993518|rs9274043 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:32630053C>T ENST00000399082.3 - 2 154 HLA-DQB1_ENST00000434651.2_Intron|HLA-DQB1_ENST00000399079.3_Intron|HLA-DQB1_ENST00000374943.4_Intron|HLA-DQB1_ENST00000399084.1_Intron|XXbac-BPG254F23.6_ENST00000443574.1_RNA P01920 DQB1_HUMAN major histocompatibility complex, class II, DQ beta 1 NA NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|immune response (GO:0006955)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852) clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658) MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605) breast(1)|large_intestine(1)|lung(1)|pancreas(1) 4 "Insulin(DB00071) CAGGAAAAGACATAGGAGTGA 0.532 NA T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjögren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia NA NA NA NA NA NA NA NA NA Esophageal Squamous(151;720 1825 15000 40336 43415) NA 0 11 11 11 NA NA 6 NA 32630053 1386 2868 4254 SO:0001627 intron_variant Familial Cancer Database incl.: Mycosis Fungoides, Sezary syndrome, Adult T-cell Lymphoma;Sjogren syndrome; ;AIMAH, Cushing disease, Adrenal, Familial CCDS43451.1, CCDS59006.1 6p21.3 2013-01-11 ENSG00000179344 ENSG00000179344 3119 Histocompatibility complex, Immunoglobulin superfamily / C1-set domain containing 4944 protein-coding gene gene with protein product 604305 HLA-DQB NA Standard NM_002123 NM_001243962 NA Approved IDDM1, CELIAC1 uc031snw.1 P01920 OTTHUMG00000031124 ENST00000399082.3:c.110-28G>A chr6.hg19:g.32630053C>T NA A1KR27|A2RPH3|A4Q9R4|A4USG2|A4USG5|A6N8I7|A9YQA0|B0S7Y7|B1A0K6|B1GXI3|B3VLT3|B5BLN7|B7VU69|C0MQ34|C0MQ35|C8ZL52|C8ZLJ8|C8ZLJ9|C9DRQ3|O19708|O19713|O19724|O62861|O78046|O78221|O78223|O98034|O98201|P01917|P01918|P01919|P03992|P05537|P79482|P79526|P79544|P79551|Q08GC8|Q09035|Q0E4V9|Q1M312|Q29731|Q29877|Q29884|Q29915|Q29966|Q2P9N3|Q2QK85|Q30061|Q30075|Q30076|Q30080|Q30081|Q30082|Q30083|Q30084|Q30089|Q30095|Q31633|Q38I47|Q45UE3|Q4QZB5|Q53I44|Q564J6|Q5G841|Q5ISH1|Q5ISH3|Q5W1E1|Q5Y7G8|Q643R4|Q6B9X1|Q70VH8|Q7YP69|Q8HWH0|Q8MH58|Q8SNB4|Q8SND1|Q8SP70|Q8WMA3|Q9BD17|Q9MYH2|Q9TPA9|Q9XRY6|Q9XRY7|Q9XRZ2 hg19 0.02 1.628661 AGAxATA COVERED NOVEL HLA-DQB1-007 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000276131.1 1 6.621567 KEEP 0 0 0 22 782 CC 0.999879 0.999827 0 - 6 39 217 0 0 16.890964 39 60 1480 145 ENST00000399082.3 0.133333 0.999948 HLA-DOB 3112 __UNKNOWN__ __UNKNOWN__ 6 32780724 32780724 __UNKNOWN__ 3'UTR SNP G G A rs11244 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:32780724G>A ENST00000438763.2 - 0 1187 NM_002120.3 NP_002111.1 P13765 DOB_HUMAN major histocompatibility complex, class II, DO beta NA NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|negative regulation of antigen processing and presentation of peptide antigen via MHC class II (GO:0002587)|signal transduction (GO:0007165) endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|MHC class II protein complex (GO:0042613) MHC class II protein complex binding (GO:0023026)|MHC class II receptor activity (GO:0032395) endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 9 ATGATTTGGGGCTGGAAGGAG 0.483 NA G||| 1284 0.25639 0.2814 0.1945 5008 , , NA 18515 0.2272 NA 0.2773 False NA ,,, NA NA NA 2504 0.2751 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS4754.1 6p21.3 2013-01-11 ENSG00000241106 ENSG00000241106 3112 Histocompatibility complex, Immunoglobulin superfamily / C1-set domain containing 4937 protein-coding gene gene with protein product 600629 NA Standard NM_002120 NM_002120 NA Approved P13765 OTTHUMG00000031213 ENST00000438763.2:c.*269C>T chr6.hg19:g.32780724G>A NA B0V0Y0|Q29746|Q29825|Q6FHC2 hg19 CCDS4754.1 0.02 3.723136 GGGxCTG COVERED NOVEL HLA-DOB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076439.1 0 3.3107 KEEP 0 0 0 11 382 GG 0.993072 0.993072 0 - 6 60 213 0 0 13.356605 137 60 4935 166 ENST00000438763.2 0.041958 1 PSMB8 5696 __UNKNOWN__ __UNKNOWN__ 6 32809848 32809848 __UNKNOWN__ Intron SNP G G A rs9357155 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:32809848G>A ENST00000374882.3 - 4 588 PSMB8_ENST00000395339.3_Intron|PSMB8_ENST00000374881.2_Intron NM_148919.3 NP_683720.2 P28062 PSB8_HUMAN proteasome (prosome, macropain) subunit, beta type, 8 NA NA anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|fat cell differentiation (GO:0045444)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|spermatoproteasome complex (GO:1990111) threonine-type endopeptidase activity (GO:0004298) NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1) 11 Carfilzomib(DB08889) GTATATGATGGGAAACAGATC 0.458 NA G||| 669 0.133586 0.059 0.1787 5008 , , NA 20594 0.1498 NA 0.1412 False NA ,,, NA NA NA 2504 0.1779 NA NA NA NSCLC(48;53 1172 10859 13624 22883) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS4756.1, CCDS4757.1 6p21.3 2013-03-27 2013-03-27 ENSG00000204264 ENSG00000204264 5696 Proteasome (prosome, macropain) subunits 9545 protein-coding gene gene with protein product 177046 proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional protease 7), large multifunctional peptidase 7 LMP7 NA 1529427, 10329130 Standard NM_148919 XM_005275000 NA Approved RING10, D6S216E, PSMB5i, beta5i uc003oce.3 P28062 OTTHUMG00000031285 ENST00000374882.3:c.537+62C>T chr6.hg19:g.32809848G>A NA B0UZC0|Q29824|Q5JNW6|Q5QNR8|Q96J48 hg19 CCDS4757.1 0.02 4.091882 ATGxGAA COVERED NOVEL PSMB8-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076617.3 0 4.514231 KEEP 0 0 0 15 496 GG 0.99649 0.996459 0 - 5 60 180 0 0 11.748813 96 60 3395 117 ENST00000374882.3 0.049505 0.999968 HLA-DMB 3109 __UNKNOWN__ __UNKNOWN__ 6 32905172 32905172 __UNKNOWN__ Silent SNP C C T rs143633244 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:32905172C>T ENST00000418107.2 - 3 661 c.399G>A c.(397-399)ctG>ctA p.L133L HLA-DMB_ENST00000416244.2_Silent_p.L133L|XXbac-BPG181M17.5_ENST00000429234.1_Silent_p.L165L NM_002118.4 NP_002109.2 P28068 DMB_HUMAN major histocompatibility complex, class II, DM beta 133 Beta-2.|Ig-like C1-type. NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|MHC class II protein complex assembly (GO:0002399)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|positive regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001190)|positive regulation of T cell proliferation (GO:0042102) endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613) MHC class II protein complex binding (GO:0023026) breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 13 CATAGCAGGCCAGCATCACAG 0.522 NA C||| 13 0.00259585 0.0 0.0 5008 , , NA 22181 0.003 NA 0.001 False NA ,,, NA NA NA 2504 0.0092 NA NA NA NA 0 C 0,4406 0,0,2203 148 133 138 399 4.9 1 6 dbSNP_134 138 4,8596 3.0+/-9.4 0,4,4296 no coding-synonymous HLA-DMB NM_002118.4 0,4,6499 TT,TC,CC 0.0465,0.0,0.0308 133/264 32905172 4,13002 2203 4300 6503 SO:0001819 synonymous_variant CCDS4760.1 6p21.3 2014-05-16 ENSG00000242574 ENSG00000242574 3109 Histocompatibility complex, Immunoglobulin superfamily / C1-set domain containing 4935 protein-coding gene gene with protein product 142856 NA 1922365 Standard NM_002118 NM_002118 NA Approved D6S221E, RING7 uc003ocl.2 P28068 OTTHUMG00000031176 ENST00000418107.2:c.399G>A chr6.hg19:g.32905172C>T NA O77936|Q13012|Q29751|Q58ZE2|Q5SNZ8|Q5STC4|Q9XRX2 hg19 CCDS4760.1 0.02 7.007644 GGCxAGC COVERED 1 4.578754578754579E-4 0 0.0 0 0.0 1 0.0017482517482517483 0 0.0 C 10.61 1.398414 0.25205 0.0 4.65E-4 ENSG00000242574 ENST00000414017 . . . 4.86 4.86 0.63082 . . . . . T 0.55561 0.1928 . . . 0.80722 D 1 . . . . . . T 0.54483 -0.8287 4 . . . . 13.3548 0.60621 0.0:1.0:0.0:0.0 . . . . S 23 . . G - 1 0 HLA-DMB 33013150 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 2.037000 0.41174 2.524000 0.85096 0.494000 0.49563 GGC NOVEL HLA-DMB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076340.2 0 17.456615 KEEP 0 0 0 58 2049 CC 1 1 0 - 9 60 343 0 0 22.658222 191 60 7317 331 ENST00000418107.2 0.045 1 HLA-DOA 3111 __UNKNOWN__ __UNKNOWN__ 6 32972404 32972404 __UNKNOWN__ 3'UTR SNP T T C rs3128935 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:32972404T>C ENST00000229829.5 - 0 3039 NM_002119.3 NP_002110.1 P06340 DOA_HUMAN major histocompatibility complex, class II, DO alpha NA NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|negative regulation of antigen processing and presentation of peptide antigen via MHC class II (GO:0002587)|regulation of T cell differentiation (GO:0045580)|signal transduction (GO:0007165) endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886) MHC class II protein complex binding (GO:0023026)|MHC class II receptor activity (GO:0032395) NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1) 9 AGAACACCGCTAACATGCAGG 0.532 NA T||| 779 0.155551 0.2806 0.1182 5008 , , NA 18843 0.1677 NA 0.0457 False NA ,,, NA NA NA 2504 0.1135 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M31525 CCDS4763.1 6p21.3 2013-01-11 2001-10-05 ENSG00000204252 ENSG00000204252 3111 Histocompatibility complex, Immunoglobulin superfamily / C1-set domain containing 4936 protein-coding gene gene with protein product 142930 HLA-DZA, HLA-DNA NA 2370084 Standard NM_002119 XM_005272804 NA Approved HLA-D0-alpha uc003ocr.3 P06340 OTTHUMG00000031211 ENST00000229829.5:c.*2211A>G chr6.hg19:g.32972404T>C NA Q58HU0|Q58HU1|Q5STC7|Q9TQC6|Q9TQC7|Q9TQC8|Q9TQC9|Q9TQD0|Q9TQD1|Q9TQD2|Q9TQD3 hg19 CCDS4763.1 0.02 6.961217 CGCxAAC COVERED NOVEL HLA-DOA-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076426.2 1 10.22953 KEEP 0 0 0 34 1045 TT 0.999998 0.999998 0 - 6 60 232 0 0 14.445194 188 60 6809 275 ENST00000229829.5 0.030928 1 HLA-DOA 3111 __UNKNOWN__ __UNKNOWN__ 6 32973263 32973263 __UNKNOWN__ 3'UTR SNP A A T rs3128936 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:32973263A>T ENST00000229829.5 - 0 2180 NM_002119.3 NP_002110.1 P06340 DOA_HUMAN major histocompatibility complex, class II, DO alpha NA NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|negative regulation of antigen processing and presentation of peptide antigen via MHC class II (GO:0002587)|regulation of T cell differentiation (GO:0045580)|signal transduction (GO:0007165) endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886) MHC class II protein complex binding (GO:0023026)|MHC class II receptor activity (GO:0032395) NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1) 9 gtgagaccccatctcagaaaa 0.498 NA a||| 3160 0.63099 0.671 0.4524 5008 , , NA 14056 0.6835 NA 0.5656 False NA ,,, NA NA NA 2504 0.7168 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M31525 CCDS4763.1 6p21.3 2013-01-11 2001-10-05 ENSG00000204252 ENSG00000204252 3111 Histocompatibility complex, Immunoglobulin superfamily / C1-set domain containing 4936 protein-coding gene gene with protein product 142930 HLA-DZA, HLA-DNA NA 2370084 Standard NM_002119 XM_005272804 NA Approved HLA-D0-alpha uc003ocr.3 P06340 OTTHUMG00000031211 ENST00000229829.5:c.*1352T>A chr6.hg19:g.32973263A>T NA Q58HU0|Q58HU1|Q5STC7|Q9TQC6|Q9TQC7|Q9TQC8|Q9TQC9|Q9TQD0|Q9TQD1|Q9TQD2|Q9TQD3 hg19 CCDS4763.1 0.02 6.495274 CCCxTCT COVERED NOVEL HLA-DOA-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076426.2 12 21.49862 KEEP 0 1 27 81 2569 AA 1 1 0 - 6 60 220 0 0 13.840141 149 60 5417 316 ENST00000229829.5 0.03871 1 HLA-DOA 3111 __UNKNOWN__ __UNKNOWN__ 6 32975869 32975869 __UNKNOWN__ Silent SNP G G A rs375256 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:32975869G>A ENST00000229829.5 - 2 327 c.252C>T c.(250-252)ggC>ggT p.G84G HLA-DOA_ENST00000495532.1_5'UTR|HLA-DOA_ENST00000450833.2_Silent_p.G54G NM_002119.3 NP_002110.1 P06340 DOA_HUMAN major histocompatibility complex, class II, DO alpha 84 Alpha-1. NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|negative regulation of antigen processing and presentation of peptide antigen via MHC class II (GO:0002587)|regulation of T cell differentiation (GO:0045580)|signal transduction (GO:0007165) endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886) MHC class II protein complex binding (GO:0023026)|MHC class II receptor activity (GO:0032395) NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1) 9 CGGCCAGCCCGCCCTGCGGGT 0.612 NA G||| 943 0.188299 0.0635 0.1239 5008 , , NA 16297 0.3542 NA 0.2515 False NA ,,, NA NA NA 2504 0.1667 NA NA NA NA 0 G 306,2716 11,284,1216 49 50 50 252 -9 0 6 dbSNP_80 50 1384,4034 176,1032,1501 no coding-synonymous HLA-DOA NM_002119.3 187,1316,2717 AA,AG,GG 25.5445,10.1257,20.0237 84/251 32975869 1690,6750 1511 2709 4220 SO:0001819 synonymous_variant M31525 CCDS4763.1 6p21.3 2013-01-11 2001-10-05 ENSG00000204252 ENSG00000204252 3111 Histocompatibility complex, Immunoglobulin superfamily / C1-set domain containing 4936 protein-coding gene gene with protein product 142930 HLA-DZA, HLA-DNA NA 2370084 Standard NM_002119 XM_005272804 NA Approved HLA-D0-alpha uc003ocr.3 P06340 OTTHUMG00000031211 ENST00000229829.5:c.252C>T chr6.hg19:g.32975869G>A NA Q58HU0|Q58HU1|Q5STC7|Q9TQC6|Q9TQC7|Q9TQC8|Q9TQC9|Q9TQD0|Q9TQD1|Q9TQD2|Q9TQD3 hg19 CCDS4763.1 0.02 16.093772 CCCxCCC COVERED 478 0.21886446886446886 51 0.10365853658536585 50 0.13812154696132597 184 0.32167832167832167 193 0.2546174142480211 G 2.011 -0.427116 0.04701 0.101257 0.255445 ENSG00000204252 ENST00000374813 . . . 4.5 -9.0 0.00747 . . . . . T 0.11879 0.0289 . . . 0.35853 P 0.17310899999999996 . . . . . . T 0.23619 -1.0183 4 0.56958 D 0.05 . 3.8276 0.08861 0.15:0.1986:0.455:0.1964 rs375256;rs17584410;rs17884669;rs375256 . . . W 29 . ENSP00000363946:R29W R - 1 2 HLA-DOA 33083847 0.000000 0.05858 0.000000 0.03702 0.148000 0.21650 -3.733000 0.00380 -2.715000 0.00391 -1.709000 0.00716 CGG NOVEL HLA-DOA-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076426.2 5 35.414693 KEEP 0 1 32 129 4519 GG 1 1 0 - 15 60 520 0 0 30.684904 431 60 14941 734 ENST00000229829.5 0.033632 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 32977420 32977420 __UNKNOWN__ IGR SNP G G T rs381218 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:32977420G>T NA NA HLA-DOA (31 upstream) : HLA-DPA1 (54925 downstream) NA NA NA GGCGACCCCTGCTGTCTTCAG 0.507 NA G||| 923 0.184305 0.0499 0.1196 5008 , , NA 20495 0.3542 NA 0.2525 False NA ,,, NA NA NA 2504 0.1667 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.32977420G>T NA hg19 0.02 12.429221 CCTxCTG COVERED NOVEL 0 1 17.758433 KEEP 0 0 0 59 2151 GG 1 1 0 13 60 463 0 0 28.5212 329 60 12488 520 0.038012 1 HLA-DPA1 3113 __UNKNOWN__ __UNKNOWN__ 6 33035771 33035771 __UNKNOWN__ Intron SNP T T C rs1054025 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:33035771T>C ENST00000419277.1 - 5 925 HLA-DPA1_ENST00000428995.1_Intron NM_001242524.1|NM_001242525.1 NP_001229453.1|NP_001229454.1 P20036 DPA1_HUMAN major histocompatibility complex, class II, DP alpha 1 NA NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852) cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658) MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605) kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2) 15 GGAAGTTCACTGTCTAATGCT 0.333 NA T||| 976 0.194888 0.2012 0.0432 5008 , , NA 20716 0.5476 NA 0.0318 False NA ,,, NA NA NA 2504 0.0982 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X00457 CCDS4764.1 6p21.3 2013-01-11 ENSG00000231389 ENSG00000231389 3113 Histocompatibility complex, Immunoglobulin superfamily / C1-set domain containing 4938 protein-coding gene gene with protein product 142880 HLA-DP1A NA 6584734 Standard NM_033554 NM_033554 NA Approved uc003ocs.2 P20036 OTTHUMG00000031058 ENST00000419277.1:c.780+643A>G chr6.hg19:g.33035771T>C NA A9YWH7|B9UKH4|O19722|O46883|P01905|P79554|Q2Q060|Q2Q061|Q5EY03|Q5STP1|Q6DQK4|Q9BCQ1|Q9TPX3|Q9XS10 hg19 CCDS4764.1 0.02 6.425036 CACxGTC COVERED NOVEL HLA-DPA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076071.3 0 6.017898 KEEP 0 0 0 20 621 TT 0.999863 0.999863 0 - 7 60 242 0 0 15.026181 155 60 5757 211 ENST00000419277.1 0.04321 1 HLA-DPA1 3113 __UNKNOWN__ __UNKNOWN__ 6 33036085 33036085 __UNKNOWN__ Intron SNP C C G rs67818943 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:33036085C>G ENST00000419277.1 - 5 925 HLA-DPA1_ENST00000428995.1_Intron NM_001242524.1|NM_001242525.1 NP_001229453.1|NP_001229454.1 P20036 DPA1_HUMAN major histocompatibility complex, class II, DP alpha 1 NA NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852) cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658) MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605) kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2) 15 ggattggaagctagccctact 0.383 NA C||| 2201 0.439497 0.5809 0.2839 5008 , , NA 19174 0.6796 NA 0.1899 False NA ,,, NA NA NA 2504 0.3681 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X00457 CCDS4764.1 6p21.3 2013-01-11 ENSG00000231389 ENSG00000231389 3113 Histocompatibility complex, Immunoglobulin superfamily / C1-set domain containing 4938 protein-coding gene gene with protein product 142880 HLA-DP1A NA 6584734 Standard NM_033554 NM_033554 NA Approved uc003ocs.2 P20036 OTTHUMG00000031058 ENST00000419277.1:c.780+329G>C chr6.hg19:g.33036085C>G NA A9YWH7|B9UKH4|O19722|O46883|P01905|P79554|Q2Q060|Q2Q061|Q5EY03|Q5STP1|Q6DQK4|Q9BCQ1|Q9TPX3|Q9XS10 hg19 CCDS4764.1 0.02 6.70588 AAGxTAG COVERED NOVEL HLA-DPA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076071.3 2 8.126647 KEEP 0 0 0 27 977 CC 0.999988 0.999988 0 - 6 60 228 0 0 14.143211 181 60 6880 248 ENST00000419277.1 0.032086 1 HLA-DPA1 3113 __UNKNOWN__ __UNKNOWN__ 6 33036505 33036505 __UNKNOWN__ Silent SNP G G C rs1042434 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:33036505G>C ENST00000419277.1 - 5 834 c.705C>G c.(703-705)gtC>gtG p.V235V HLA-DPA1_ENST00000428995.1_Silent_p.V235V NM_001242524.1|NM_001242525.1 NP_001229453.1|NP_001229454.1 P20036 DPA1_HUMAN major histocompatibility complex, class II, DP alpha 1 235 NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852) cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658) MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605) kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2) 15 CGATGATGCCGACTAGGCCCA 0.582 NA C||| 2381 0.475439 0.7095 0.2997 5008 , , NA 18440 0.6796 NA 0.1889 False NA ,,, NA NA NA 2504 0.3681 NA NA NA NA 0 C ,, 1707,1313 479,749,282 104 126 118 705,705,705 2.5 0.6 6 dbSNP_86 118 968,4450 74,820,1815 yes coding-synonymous,coding-synonymous,coding-synonymous HLA-DPA1 NM_001242524.1,NM_001242525.1,NM_033554.3 ,, 553,1569,2097 CC,CG,GG 17.8664,43.4768,31.7018 ,, 235/261,235/261,235/261 33036505 2675,5763 1510 2709 4219 SO:0001819 synonymous_variant X00457 CCDS4764.1 6p21.3 2013-01-11 ENSG00000231389 ENSG00000231389 3113 Histocompatibility complex, Immunoglobulin superfamily / C1-set domain containing 4938 protein-coding gene gene with protein product 142880 HLA-DP1A NA 6584734 Standard NM_033554 NM_033554 NA Approved uc003ocs.2 P20036 OTTHUMG00000031058 ENST00000419277.1:c.705C>G chr6.hg19:g.33036505G>C NA A9YWH7|B9UKH4|O19722|O46883|P01905|P79554|Q2Q060|Q2Q061|Q5EY03|Q5STP1|Q6DQK4|Q9BCQ1|Q9TPX3|Q9XS10 hg19 CCDS4764.1 0.02 20.165424 GCCxACT COVERED 946 0.43315018315018317 350 0.7113821138211383 96 0.26519337016574585 371 0.6486013986013986 129 0.17018469656992086 C 0.676 -0.800149 0.02841 0.565232 0.178664 ENSG00000231389 ENST00000437811 . . . 3.4 2.51 0.30379 . . . . . T 0.24624 0.0597 . . . 0.09310 P 0.999999832037 . . . . . . T 0.08351 -1.0726 3 . . . . 7.1427 0.25564 0.1821:0.4624:0.3555:0.0 rs1042434;rs3181901;rs17850578 . . . G 103 . . R - 1 2 HLA-DPA1 33144483 0.085000 0.21516 0.599000 0.28851 0.111000 0.19643 0.007000 0.13174 0.212000 0.20703 -0.847000 0.03039 CGG NOVEL HLA-DPA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076071.3 4 21.969675 KEEP 0 0 0 73 2469 GG 1 1 0 - 24 60 932 0 0 64.322163 412 60 15011 606 ENST00000419277.1 0.055046 1 HLA-DPA1 3113 __UNKNOWN__ __UNKNOWN__ 6 33036853 33036853 __UNKNOWN__ Missense_Mutation SNP A A C rs1042308 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:33036853A>C ENST00000419277.1 - 4 700 c.571T>G c.(571-573)Ttc>Gtc p.F191V HLA-DPA1_ENST00000428995.1_Missense_Mutation_p.F191V NM_001242524.1|NM_001242525.1 NP_001229453.1|NP_001229454.1 P20036 DPA1_HUMAN major histocompatibility complex, class II, DP alpha 1 191 Alpha-2.|Ig-like C1-type. NA F -> V (in allele DPA1*02:01, allele DPA1*02:02 and allele DPA1*04:01; dbSNP:rs1042308). antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852) cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658) MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605) kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2) 15 CAGTCATAGAAGTCCTCTGCT 0.547 NA A||| 2194 0.438099 0.5802 0.2839 5008 , , NA 19836 0.6786 NA 0.1889 False NA ,,, NA NA NA 2504 0.364 NA NA NA NA 0 A VAL/PHE,VAL/PHE,VAL/PHE 1427,1593 327,773,410 196 217 209 571,571,571 -3.7 0 6 dbSNP_86 209 960,4458 72,816,1821 yes missense,missense,missense HLA-DPA1 NM_001242524.1,NM_001242525.1,NM_033554.3 50,50,50 399,1589,2231 CC,CA,AA 17.7187,47.2517,28.2887 benign,benign,benign 191/261,191/261,191/261 33036853 2387,6051 1510 2709 4219 SO:0001583 missense X00457 CCDS4764.1 6p21.3 2013-01-11 ENSG00000231389 ENSG00000231389 3113 Histocompatibility complex, Immunoglobulin superfamily / C1-set domain containing 4938 protein-coding gene gene with protein product 142880 HLA-DP1A NA 6584734 Standard NM_033554 NM_033554 NA Approved uc003ocs.2 P20036 OTTHUMG00000031058 ENST00000419277.1:c.571T>G chr6.hg19:g.33036853A>C ENSP00000393566:p.Phe191Val NA A9YWH7|B9UKH4|O19722|O46883|P01905|P79554|Q2Q060|Q2Q061|Q5EY03|Q5STP1|Q6DQK4|Q9BCQ1|Q9TPX3|Q9XS10 hg19 CCDS4764.1 0.02 8.885859 AGAxGTC COVERED 864|864 0.3956043956043956|0.3956043956043956 275|275 0.5589430894308943|0.5589430894308943 89|89 0.24585635359116023|0.24585635359116023 371|371 0.6486013986013986|0.6486013986013986 129|129 0.17018469656992086|0.17018469656992086 A|A 0.003|0.003 -2.491932|-2.491932 0.00161|0.00161 0.472517|0.472517 0.177187|0.177187 ENSG00000231389|ENSG00000231389 ENST00000419277;ENST00000428995;ENST00000448544;ENST00000453337|ENST00000437811 T;T;T|. 0.02579|. 4.24;4.24;4.24|. 3.4|3.4 -3.7|-3.7 0.04437|0.04437 Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);|. 0.524360|. 0.17386|. N|. 0.176127|. T|T 0.02380|0.02380 0.0073|0.0073 N|N 0.00738|0.00738 -1.235|-1.235 0.80722|0.80722 P|P 0.0|0.0 B|. 0.02656|. 0.0|. B|. 0.04013|. 0.001|. T|T 0.43426|0.43426 -0.9392|-0.9392 9|4 0.02654|. T|. 1|. .|. 8.0008|8.0008 0.30295|0.30295 0.7188:0.1825:0.0:0.0987|0.7188:0.1825:0.0:0.0987 rs1042308;rs2308933;rs45587632;rs52831627|rs1042308;rs2308933;rs45587632;rs52831627 191|. P20036|. DPA1_HUMAN|. V|R 191;191;158;191|58 ENSP00000393566:F191V;ENSP00000402872:F191V;ENSP00000390929:F191V|. ENSP00000393566:F191V|. F|L -|- 1|2 0|0 HLA-DPA1|HLA-DPA1 33144831|33144831 0.003000|0.003000 0.15002|0.15002 0.003000|0.003000 0.11579|0.11579 0.001000|0.001000 0.01503|0.01503 -0.160000|-0.160000 0.10041|0.10041 -0.501000|-0.501000 0.06605|0.06605 -0.178000|-0.178000 0.13098|0.13098 TTC|CTT NOVEL HLA-DPA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076071.3 2 14.14269 KEEP 0 0 0 47 1508 AA 1 1 0 - 19 60 687 0 0 49.523406 205 60 7420 325 ENST00000419277.1 0.084821 1 HLA-DPA1 3113 __UNKNOWN__ __UNKNOWN__ 6 33043930 33043930 __UNKNOWN__ Intron SNP A A G rs2071351 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:33043930A>G ENST00000419277.1 - 2 31 HLA-DPB1_ENST00000535465.1_Intron|HLA-DPB1_ENST00000418931.2_Intron NM_001242524.1|NM_001242525.1 NP_001229453.1|NP_001229454.1 P20036 DPA1_HUMAN major histocompatibility complex, class II, DP alpha 1 NA NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852) cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658) MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605) kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2) 15 TAAGAGCCGAACTGCCATTCT 0.587 NA .||| 2227 0.444688 0.6044 0.281 5008 , , NA 17344 0.6815 NA 0.1859 False NA ,,, NA NA NA 2504 0.3671 NA NA NA NA 0 G ,, 1384,1634 344,696,469 31 27 28 ,, -1.1 0 6 dbSNP_96 28 880,4538 70,740,1899 no intron,intron,intron HLA-DPA1,HLA-DPB1 NM_001242524.1,NM_001242525.1,NM_002121.5 ,, 414,1436,2368 GG,GA,AA 16.2422,45.8582,26.8374 ,, ,, 33043930 2264,6172 1509 2709 4218 SO:0001627 intron_variant X00457 CCDS4764.1 6p21.3 2013-01-11 ENSG00000231389 ENSG00000231389 3113 Histocompatibility complex, Immunoglobulin superfamily / C1-set domain containing 4938 protein-coding gene gene with protein product 142880 HLA-DP1A NA 6584734 Standard NM_033554 NM_033554 NA Approved uc003ocs.2 P20036 OTTHUMG00000031058 ENST00000419277.1:c.99-2484T>C chr6.hg19:g.33043930A>G NA A9YWH7|B9UKH4|O19722|O46883|P01905|P79554|Q2Q060|Q2Q061|Q5EY03|Q5STP1|Q6DQK4|Q9BCQ1|Q9TPX3|Q9XS10 hg19 CCDS4764.1 0.02 13.71905 CGAxCTG COVERED NOVEL HLA-DPA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076071.3 1 18.647123 KEEP 0 0 0 62 1788 AA 1 1 0 - 16 60 597 0 0 39.755113 304 60 10569 407 ENST00000419277.1 0.05 1 HLA-DPA1 3113 __UNKNOWN__ __UNKNOWN__ 6 33047432 33047432 __UNKNOWN__ Intron SNP A A C rs2856822 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:33047432A>C ENST00000419277.1 - 1 31 HLA-DPB1_ENST00000535465.1_Intron|HLA-DPB1_ENST00000418931.2_Intron NM_001242524.1|NM_001242525.1 NP_001229453.1|NP_001229454.1 P20036 DPA1_HUMAN major histocompatibility complex, class II, DP alpha 1 NA NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852) cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658) MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605) kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2) 15 CAACAAAAAAAACATGCTGCC 0.488 NA .||| 2567 0.51258 0.6717 0.366 5008 , , NA 21232 0.7192 NA 0.331 False NA ,,, NA NA NA 2504 0.3753 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X00457 CCDS4764.1 6p21.3 2013-01-11 ENSG00000231389 ENSG00000231389 3113 Histocompatibility complex, Immunoglobulin superfamily / C1-set domain containing 4938 protein-coding gene gene with protein product 142880 HLA-DP1A NA 6584734 Standard NM_033554 NM_033554 NA Approved uc003ocs.2 P20036 OTTHUMG00000031058 ENST00000419277.1:c.98+1024T>G chr6.hg19:g.33047432A>C NA A9YWH7|B9UKH4|O19722|O46883|P01905|P79554|Q2Q060|Q2Q061|Q5EY03|Q5STP1|Q6DQK4|Q9BCQ1|Q9TPX3|Q9XS10 hg19 CCDS4764.1 0.02 6.778202 AAAxACA COVERED NOVEL HLA-DPA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076071.3 5 22.868401 KEEP 0 0 0 76 2354 AA 1 1 0 - 6 60 227 0 0 13.974811 186 60 6717 323 ENST00000419277.1 0.03125 1 HLA-DPA1 3113 __UNKNOWN__ __UNKNOWN__ 6 33047466 33047466 __UNKNOWN__ Intron SNP T T C rs3135024 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:33047466T>C ENST00000419277.1 - 1 31 HLA-DPB1_ENST00000535465.1_Intron|HLA-DPB1_ENST00000418931.2_Intron NM_001242524.1|NM_001242525.1 NP_001229453.1|NP_001229454.1 P20036 DPA1_HUMAN major histocompatibility complex, class II, DP alpha 1 NA NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852) cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658) MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605) kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2) 15 AAGTTTCTGGTCCACAGCCTC 0.468 NA .||| 1836 0.366613 0.2731 0.3026 5008 , , NA 19483 0.6944 NA 0.2724 False NA ,,, NA NA NA 2504 0.2975 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X00457 CCDS4764.1 6p21.3 2013-01-11 ENSG00000231389 ENSG00000231389 3113 Histocompatibility complex, Immunoglobulin superfamily / C1-set domain containing 4938 protein-coding gene gene with protein product 142880 HLA-DP1A NA 6584734 Standard NM_033554 NM_033554 NA Approved uc003ocs.2 P20036 OTTHUMG00000031058 ENST00000419277.1:c.98+990A>G chr6.hg19:g.33047466T>C NA A9YWH7|B9UKH4|O19722|O46883|P01905|P79554|Q2Q060|Q2Q061|Q5EY03|Q5STP1|Q6DQK4|Q9BCQ1|Q9TPX3|Q9XS10 hg19 CCDS4764.1 0.02 6.756315 TGGxCCA COVERED NOVEL HLA-DPA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076071.3 6 21.652491 KEEP 0 0 0 72 2136 TT 1 1 0 - 8 60 252 0 0 15.294846 164 60 5597 272 ENST00000419277.1 0.046512 1 HLA-DPB1 3115 __UNKNOWN__ __UNKNOWN__ 6 33048542 33048542 __UNKNOWN__ Missense_Mutation SNP C C T rs1042121 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:33048542C>T ENST00000418931.2 + 2 310 c.194C>T c.(193-195)gCg>gTg p.A65V HLA-DPB1_ENST00000535465.1_Missense_Mutation_p.A65V|HLA-DPB1_ENST00000471184.1_3'UTR NM_002121.5 NP_002112.3 P04440 DPB1_HUMAN major histocompatibility complex, class II, DP beta 1 65 Beta-1. NA A -> V (in allele DPB1*01:02, allele DPB1*02:01, allele DPB1*02:02, allele DPB1*02:03, allele DPB1*03:01, allele DPB1*04:02, allele DPB1*04:03, allele DPB1*05:01, allele DPB1*05:02, allele DPB1*06:01, allele DPB1*06:02, allele DPB1*08:01, allele DPB1*08:02, allele DPB1*09:01, allele DPB1*10:01, allele DPB1*10:02, allele DPB1*11:02, allele DPB1*14:01, allele DPB1*14:02, allele DPB1*15:02, allele DPB1*16:01, allele DPB1*16:02, allele DPB1*17:01, allele DPB1*17:02, allele DPB1*18:01, allele DPB1*18:02, allele DPB1*19:01, allele DPB1*19:02, allele DPB1*21:01, allele DPB1*20:01, allele DPB1*22:01, allele DPB1*22:02, allele DPB1*23:01, allele DPB1*25:01, allele DPB1*26:02, allele DPB1*29:01, allele DPB1*30:01, allele DPB1*32:01, allele DPB1*34:01, allele DPB1*35:01, allele DPB1*36:01, allele DPB1*37:01, allele DPB1*38:01, allele DPB1*41:01, allele DPB1*44:01, allele DPB1*45:01, allele DPB1*46:01, allele DPB1*47:01, allele DPB1*48:01, allele DPB1*50:01, allele DPB1*52:01, allele DPB1*54:01, allele DPB1*55:01, allele DPB1*57:01, allele DPB1*58:01, allele DPB1*59:01, allele DPB1*60:01, allele DPB1*62:01, allele DPB1*63:01, allele DPB1*67:01, allele DPB1*68:01, allele DPB1*69:01, allele DPB1*70:01, allele DPB1*71:01, allele DPB1*73:01, allele DPB1*75:01, allele DPB1*77:01, allele DPB1*78:01, allele DPB1*79:01, allele DPB1*80:01, allele DPB1*82:01, allele DPB1*83:01, allele DPB1*84:01, allele DPB1*86:01, allele DPB1*87:01, allele DPB1*88:01, allele DPB1*91:01, allele DPB1*93:01, allele DPB1*94:01, allele DPB1*95:01, allele DPB1*97:01 and allele DPB1*98:01; dbSNP:rs1042121). antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852) cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658) peptide antigen binding (GO:0042605) cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1) 11 GAGGAGTTCGCGCGCTTCGAC 0.607 NA .||| 2930 0.585064 0.4879 0.647 5008 , , NA 14910 0.8452 NA 0.497 False NA ,,, NA NA NA 2504 0.4949 NA NA NA NA 0 C ,,VAL/ALA 1491,1531 353,785,373 69 69 69 ,,194 -0.4 0.1 6 dbSNP_86 69 2569,2849 602,1365,742 no utr-5,utr-5,missense HLA-DPA1,HLA-DPB1 NM_001242524.1,NM_001242525.1,NM_002121.5 ,,64 955,2150,1115 TT,TC,CC 47.416,49.3382,48.1043 ,,benign ,,65/259 33048542 4060,4380 1511 2709 4220 SO:0001583 missense CCDS4765.1 6p21.3 2013-01-11 ENSG00000223865 ENSG00000223865 3115 Histocompatibility complex, Immunoglobulin superfamily / C1-set domain containing 4940 protein-coding gene gene with protein product 142858 HLA-DP1B NA Standard NM_002121 NM_002121 NA Approved uc003ocu.2 P04440 OTTHUMG00000031076 ENST00000418931.2:c.194C>T chr6.hg19:g.33048542C>T ENSP00000408146:p.Ala65Val NA A0PFJ7|A5I886|A8YPB3|B5U8B4|B7VF80|B7VF87|B8ZX68|B8ZYT0|B9W5S8|B9W6F7|B9W6F9|C0MPP5|C0MPQ2|C0MPQ3|C0MPQ5|C0MPQ6|C0MPQ7|C4R9J5|C5IZL1|O00259|O19698|O19700|O19702|O19749|O46884|O77952|O98215|O98216|O98217|O98218|O98219|O98222|O98223|P01916|P04232|P13763|P79493|P79608|Q0P0L4|Q0ZFN3|Q14279|Q27S71|Q29682|Q29684|Q29698|Q29714|Q29775|Q29776|Q29778|Q29779|Q29781|Q29827|Q29828|Q29879|Q29880|Q29898|Q29977|Q2MGW3|Q30015|Q30031|Q30032|Q30033|Q30034|Q30050|Q30051|Q30052|Q30053|Q30054|Q30055|Q30174|Q4GY31|Q4JHD8|Q5ENE0|Q5ENE1|Q5ENW3|Q5EP46|Q5EP47|Q5EP49|Q5EP51|Q5EP52|Q5EP53|Q5EP56|Q5I4H8|Q5I4H9|Q5ISH4|Q5ISH5|Q5SQ73|Q5STP2|Q5YLA6|Q6IVX1|Q6LBX2|Q6LBX3|Q6LBX4|Q6LBX5|Q6LBX6|Q6LBX7|Q6PWX6|Q6TAS4|Q714U1|Q714U2|Q7YQ10|Q860Z7|Q8HWL7|Q8HWT5|Q8SNC4|Q95HC1|Q95IT7|Q95IT8|Q9BD13|Q9GIM2|Q9GIM4|Q9GIX6|Q9GJ41|Q9MY67|Q9TNT7|Q9TQE2|Q9XS11|Q9XS12 hg19 CCDS4765.1 0.02 13.168824 TCGxGCG COVERED 1334|1334 0.6108058608058609|0.6108058608058609 245|245 0.49796747967479676|0.49796747967479676 231|231 0.638121546961326|0.638121546961326 493|493 0.8618881118881119|0.8618881118881119 365|365 0.4815303430079156|0.4815303430079156 c|c 0.009|0.009 -1.840626|-1.840626 0.00573|0.00573 0.493382|0.493382 0.47416|0.47416 ENSG00000223865|ENSG00000223865 ENST00000418931;ENST00000535465;ENST00000411942;ENST00000428835|ENST00000416804 T;T;T|. 0.00297|. 8.23;8.23;8.23|. 3.61|3.61 -0.406|-0.406 0.12389|0.12389 MHC class II, alpha/beta chain, N-terminal (1);MHC class II, beta chain, N-terminal (2);MHC classes I/II-like antigen recognition protein (1);|. 1.115630|. 0.06983|. N|. 0.820251|. T|T 0.02929|0.02929 0.0087|0.0087 N|N 0.01168|0.01168 -0.975|-0.975 0.80722|0.80722 P|P 0.0|0.0 B|. 0.02656|. 0.0|. B|. 0.01281|. 0.0|. T|T 0.44375|0.44375 -0.9332|-0.9332 9|4 0.02654|. T|. 1|. .|. 7.4734|7.4734 0.27361|0.27361 0.0:0.4284:0.0:0.5716|0.0:0.4284:0.0:0.5716 rs1042121;rs3173297;rs9277349;rs17221115;rs17855391;rs60359396|rs1042121;rs3173297;rs9277349;rs17221115;rs17855391;rs60359396 65|. P04440|. DPB1_HUMAN|. V|C 65;65;65;42|32 ENSP00000408146:A65V;ENSP00000439674:A65V;ENSP00000412654:A42V|. ENSP00000389210:A65V|. A|R +|+ 2|1 0|0 HLA-DPB1|HLA-DPB1 33156520|33156520 0.000000|0.000000 0.05858|0.05858 0.075000|0.075000 0.20258|0.20258 0.011000|0.011000 0.07611|0.07611 -2.384000|-2.384000 0.01063|0.01063 -0.182000|-0.182000 0.10602|0.10602 -0.386000|-0.386000 0.06593|0.06593 GCG|CGC NOVEL HLA-DPB1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076106.2 3 21.057289 KEEP 1 4 122 113 3893 CC 1 1 0 + 10 60 343 0 0 19.916838 305 60 10950 562 ENST00000418931.2 0.031746 1 HLA-DPB1 3115 __UNKNOWN__ __UNKNOWN__ 6 33054721 33054721 __UNKNOWN__ 3'UTR SNP C C T rs9277533|rs386699896 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:33054721C>T ENST00000418931.2 + 0 1303 NM_002121.5 NP_002112.3 P04440 DPB1_HUMAN major histocompatibility complex, class II, DP beta 1 NA NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852) cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658) peptide antigen binding (GO:0042605) cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1) 11 GGGCCTGTTACACATGACACT 0.368 NA .||| 2315 0.46226 0.5953 0.3285 5008 , , NA 17309 0.621 NA 0.3151 False NA ,,, NA NA NA 2504 0.365 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS4765.1 6p21.3 2013-01-11 ENSG00000223865 ENSG00000223865 3115 Histocompatibility complex, Immunoglobulin superfamily / C1-set domain containing 4940 protein-coding gene gene with protein product 142858 HLA-DP1B NA Standard NM_002121 NM_002121 NA Approved uc003ocu.2 P04440 OTTHUMG00000031076 ENST00000418931.2:c.*410C>T chr6.hg19:g.33054721C>T NA A0PFJ7|A5I886|A8YPB3|B5U8B4|B7VF80|B7VF87|B8ZX68|B8ZYT0|B9W5S8|B9W6F7|B9W6F9|C0MPP5|C0MPQ2|C0MPQ3|C0MPQ5|C0MPQ6|C0MPQ7|C4R9J5|C5IZL1|O00259|O19698|O19700|O19702|O19749|O46884|O77952|O98215|O98216|O98217|O98218|O98219|O98222|O98223|P01916|P04232|P13763|P79493|P79608|Q0P0L4|Q0ZFN3|Q14279|Q27S71|Q29682|Q29684|Q29698|Q29714|Q29775|Q29776|Q29778|Q29779|Q29781|Q29827|Q29828|Q29879|Q29880|Q29898|Q29977|Q2MGW3|Q30015|Q30031|Q30032|Q30033|Q30034|Q30050|Q30051|Q30052|Q30053|Q30054|Q30055|Q30174|Q4GY31|Q4JHD8|Q5ENE0|Q5ENE1|Q5ENW3|Q5EP46|Q5EP47|Q5EP49|Q5EP51|Q5EP52|Q5EP53|Q5EP56|Q5I4H8|Q5I4H9|Q5ISH4|Q5ISH5|Q5SQ73|Q5STP2|Q5YLA6|Q6IVX1|Q6LBX2|Q6LBX3|Q6LBX4|Q6LBX5|Q6LBX6|Q6LBX7|Q6PWX6|Q6TAS4|Q714U1|Q714U2|Q7YQ10|Q860Z7|Q8HWL7|Q8HWT5|Q8SNC4|Q95HC1|Q95IT7|Q95IT8|Q9BD13|Q9GIM2|Q9GIM4|Q9GIX6|Q9GJ41|Q9MY67|Q9TNT7|Q9TQE2|Q9XS11|Q9XS12 hg19 CCDS4765.1 0.02 6.722241 TTAxACA COVERED NOVEL HLA-DPB1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076106.2 1 5.718703 KEEP 0 0 0 19 678 CC 0.99986 0.99986 0 + 6 60 218 0 0 13.229841 175 60 6576 232 ENST00000418931.2 0.033149 1 HLA-DPB1 3115 __UNKNOWN__ __UNKNOWN__ 6 33054807 33054807 __UNKNOWN__ 3'UTR SNP A A G rs9277534 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:33054807A>G ENST00000418931.2 + 0 1389 NM_002121.5 NP_002112.3 P04440 DPB1_HUMAN major histocompatibility complex, class II, DP beta 1 NA NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852) cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658) peptide antigen binding (GO:0042605) cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1) 11 GTCTCAGACCACTATTCTTAA 0.423 NA .||| 2319 0.463059 0.5968 0.3285 5008 , , NA 18564 0.621 NA 0.3151 False NA ,,, NA NA NA 2504 0.3671 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS4765.1 6p21.3 2013-01-11 ENSG00000223865 ENSG00000223865 3115 Histocompatibility complex, Immunoglobulin superfamily / C1-set domain containing 4940 protein-coding gene gene with protein product 142858 HLA-DP1B NA Standard NM_002121 NM_002121 NA Approved uc003ocu.2 P04440 OTTHUMG00000031076 ENST00000418931.2:c.*496A>G chr6.hg19:g.33054807A>G NA A0PFJ7|A5I886|A8YPB3|B5U8B4|B7VF80|B7VF87|B8ZX68|B8ZYT0|B9W5S8|B9W6F7|B9W6F9|C0MPP5|C0MPQ2|C0MPQ3|C0MPQ5|C0MPQ6|C0MPQ7|C4R9J5|C5IZL1|O00259|O19698|O19700|O19702|O19749|O46884|O77952|O98215|O98216|O98217|O98218|O98219|O98222|O98223|P01916|P04232|P13763|P79493|P79608|Q0P0L4|Q0ZFN3|Q14279|Q27S71|Q29682|Q29684|Q29698|Q29714|Q29775|Q29776|Q29778|Q29779|Q29781|Q29827|Q29828|Q29879|Q29880|Q29898|Q29977|Q2MGW3|Q30015|Q30031|Q30032|Q30033|Q30034|Q30050|Q30051|Q30052|Q30053|Q30054|Q30055|Q30174|Q4GY31|Q4JHD8|Q5ENE0|Q5ENE1|Q5ENW3|Q5EP46|Q5EP47|Q5EP49|Q5EP51|Q5EP52|Q5EP53|Q5EP56|Q5I4H8|Q5I4H9|Q5ISH4|Q5ISH5|Q5SQ73|Q5STP2|Q5YLA6|Q6IVX1|Q6LBX2|Q6LBX3|Q6LBX4|Q6LBX5|Q6LBX6|Q6LBX7|Q6PWX6|Q6TAS4|Q714U1|Q714U2|Q7YQ10|Q860Z7|Q8HWL7|Q8HWT5|Q8SNC4|Q95HC1|Q95IT7|Q95IT8|Q9BD13|Q9GIM2|Q9GIM4|Q9GIX6|Q9GJ41|Q9MY67|Q9TNT7|Q9TQE2|Q9XS11|Q9XS12 hg19 CCDS4765.1 0.02 8.863891 ACCxCTA COVERED NOVEL HLA-DPB1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076106.2 2 9.629241 KEEP 0 0 0 32 1016 AA 0.999998 0.999998 0 + 11 60 398 0 0 25.747674 225 60 8124 330 ENST00000418931.2 0.04661 1 HLA-DPB1 3115 __UNKNOWN__ __UNKNOWN__ 6 33054861 33054861 __UNKNOWN__ 3'UTR SNP A A G rs9277535 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:33054861A>G ENST00000418931.2 + 0 1443 NM_002121.5 NP_002112.3 P04440 DPB1_HUMAN major histocompatibility complex, class II, DP beta 1 NA NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852) cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658) peptide antigen binding (GO:0042605) cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1) 11 GATAGGACCCATATTCCCACA 0.358 NA .||| 1633 0.326078 0.1914 0.2882 5008 , , NA 20118 0.6121 NA 0.2714 False NA ,,, NA NA NA 2504 0.2965 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS4765.1 6p21.3 2013-01-11 ENSG00000223865 ENSG00000223865 3115 Histocompatibility complex, Immunoglobulin superfamily / C1-set domain containing 4940 protein-coding gene gene with protein product 142858 HLA-DP1B NA Standard NM_002121 NM_002121 NA Approved uc003ocu.2 P04440 OTTHUMG00000031076 ENST00000418931.2:c.*550A>G chr6.hg19:g.33054861A>G NA A0PFJ7|A5I886|A8YPB3|B5U8B4|B7VF80|B7VF87|B8ZX68|B8ZYT0|B9W5S8|B9W6F7|B9W6F9|C0MPP5|C0MPQ2|C0MPQ3|C0MPQ5|C0MPQ6|C0MPQ7|C4R9J5|C5IZL1|O00259|O19698|O19700|O19702|O19749|O46884|O77952|O98215|O98216|O98217|O98218|O98219|O98222|O98223|P01916|P04232|P13763|P79493|P79608|Q0P0L4|Q0ZFN3|Q14279|Q27S71|Q29682|Q29684|Q29698|Q29714|Q29775|Q29776|Q29778|Q29779|Q29781|Q29827|Q29828|Q29879|Q29880|Q29898|Q29977|Q2MGW3|Q30015|Q30031|Q30032|Q30033|Q30034|Q30050|Q30051|Q30052|Q30053|Q30054|Q30055|Q30174|Q4GY31|Q4JHD8|Q5ENE0|Q5ENE1|Q5ENW3|Q5EP46|Q5EP47|Q5EP49|Q5EP51|Q5EP52|Q5EP53|Q5EP56|Q5I4H8|Q5I4H9|Q5ISH4|Q5ISH5|Q5SQ73|Q5STP2|Q5YLA6|Q6IVX1|Q6LBX2|Q6LBX3|Q6LBX4|Q6LBX5|Q6LBX6|Q6LBX7|Q6PWX6|Q6TAS4|Q714U1|Q714U2|Q7YQ10|Q860Z7|Q8HWL7|Q8HWT5|Q8SNC4|Q95HC1|Q95IT7|Q95IT8|Q9BD13|Q9GIM2|Q9GIM4|Q9GIX6|Q9GJ41|Q9MY67|Q9TNT7|Q9TQE2|Q9XS11|Q9XS12 hg19 CCDS4765.1 0.02 10.885028 CCCxTAT COVERED NOVEL HLA-DPB1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076106.2 1 12.036436 KEEP 0 0 0 40 1257 AA 1 1 0 + 11 60 408 1 0 26.366565 244 60 9013 348 ENST00000418931.2 0.043137 1 HLA-DPB1 3115 __UNKNOWN__ __UNKNOWN__ 6 33054890 33054890 __UNKNOWN__ 3'UTR SNP C C T rs9277536 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:33054890C>T ENST00000418931.2 + 0 1472 NM_002121.5 NP_002112.3 P04440 DPB1_HUMAN major histocompatibility complex, class II, DP beta 1 NA NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852) cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658) peptide antigen binding (GO:0042605) cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1) 11 TCAACATATACCTTACTGAGA 0.318 NA .||| 2321 0.463458 0.5968 0.3314 5008 , , NA 20794 0.621 NA 0.3151 False NA ,,, NA NA NA 2504 0.3671 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS4765.1 6p21.3 2013-01-11 ENSG00000223865 ENSG00000223865 3115 Histocompatibility complex, Immunoglobulin superfamily / C1-set domain containing 4940 protein-coding gene gene with protein product 142858 HLA-DP1B NA Standard NM_002121 NM_002121 NA Approved uc003ocu.2 P04440 OTTHUMG00000031076 ENST00000418931.2:c.*579C>T chr6.hg19:g.33054890C>T NA A0PFJ7|A5I886|A8YPB3|B5U8B4|B7VF80|B7VF87|B8ZX68|B8ZYT0|B9W5S8|B9W6F7|B9W6F9|C0MPP5|C0MPQ2|C0MPQ3|C0MPQ5|C0MPQ6|C0MPQ7|C4R9J5|C5IZL1|O00259|O19698|O19700|O19702|O19749|O46884|O77952|O98215|O98216|O98217|O98218|O98219|O98222|O98223|P01916|P04232|P13763|P79493|P79608|Q0P0L4|Q0ZFN3|Q14279|Q27S71|Q29682|Q29684|Q29698|Q29714|Q29775|Q29776|Q29778|Q29779|Q29781|Q29827|Q29828|Q29879|Q29880|Q29898|Q29977|Q2MGW3|Q30015|Q30031|Q30032|Q30033|Q30034|Q30050|Q30051|Q30052|Q30053|Q30054|Q30055|Q30174|Q4GY31|Q4JHD8|Q5ENE0|Q5ENE1|Q5ENW3|Q5EP46|Q5EP47|Q5EP49|Q5EP51|Q5EP52|Q5EP53|Q5EP56|Q5I4H8|Q5I4H9|Q5ISH4|Q5ISH5|Q5SQ73|Q5STP2|Q5YLA6|Q6IVX1|Q6LBX2|Q6LBX3|Q6LBX4|Q6LBX5|Q6LBX6|Q6LBX7|Q6PWX6|Q6TAS4|Q714U1|Q714U2|Q7YQ10|Q860Z7|Q8HWL7|Q8HWT5|Q8SNC4|Q95HC1|Q95IT7|Q95IT8|Q9BD13|Q9GIM2|Q9GIM4|Q9GIX6|Q9GJ41|Q9MY67|Q9TNT7|Q9TQE2|Q9XS11|Q9XS12 hg19 CCDS4765.1 0.02 8.672036 ATAxCTT COVERED NOVEL HLA-DPB1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076106.2 1 10.23168 KEEP 0 0 0 34 1168 CC 0.999998 0.999998 0 + 11 60 402 0 0 26.165737 224 60 8057 312 ENST00000418931.2 0.046809 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 33096776 33096776 __UNKNOWN__ IGR SNP C C T rs56217718 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:33096776C>T NA NA HLA-DPB2 (9850 upstream) : HCG24 (15783 downstream) NA NA NA ATGATGGAAACGTTTCTCTAA 0.443 NA C||| 476 0.0950479 0.1248 0.0605 5008 , , NA 22829 0.0476 NA 0.0775 False NA ,,, NA NA NA 2504 0.1462 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.33096776C>T NA hg19 0.02 10.851041 AAAxGTT COVERED NOVEL 0 0 9.631062 KEEP 0 0 0 32 1115 CC 0.999997 0.999997 0 9 60 333 0 0 21.600571 194 60 7060 405 0.044335 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 33101376 33101376 __UNKNOWN__ IGR SNP A A C rs4639320 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:33101376A>C NA NA HLA-DPB2 (14450 upstream) : HCG24 (11183 downstream) NA NA NA tttagagcctatcatgaggga 0.383 NA A||| 2137 0.426717 0.1899 0.5648 5008 , , NA 22200 0.756 NA 0.3748 False NA ,,, NA NA NA 2504 0.363 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.33101376A>C NA hg19 0.02 4.708033 CCTxTCA COVERED NOVEL 0 1 4.814189 KEEP 0 0 0 16 491 AA 0.997832 0.997831 0 5 60 191 0 0 12.234867 128 60 4679 164 0.037594 1 COL11A2 1302 __UNKNOWN__ __UNKNOWN__ 6 33137689 33137689 __UNKNOWN__ Intron SNP C C T rs9277929 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:33137689C>T ENST00000374708.4 - 48 3637 COL11A2_ENST00000374714.1_Intron|COL11A2_ENST00000361917.1_Intron|COL11A2_ENST00000374712.1_Intron|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000395197.1_Intron|COL11A2_ENST00000341947.2_Intron|COL11A2_ENST00000357486.1_Intron|COL11A2_ENST00000374713.1_Intron NM_080681.2 NP_542412.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 NA NA cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023) collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576) extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674) biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 TCAAAAACCTCCTCTCCTTCC 0.512 NA C||| 427 0.0852636 0.0303 0.0533 5008 , , NA 18265 0.0486 NA 0.1074 False NA ,,, NA NA NA 2504 0.1973 NA NA NA Melanoma(1;90 116 3946 5341 17093) NA 0 C ,, 189,4217 120.4+/-158.0 6,177,2020 63 61 61 ,, -1.9 0 6 dbSNP_118 61 939,7661 206.8+/-248.7 45,849,3406 no intron,intron,intron COL11A2 NM_080679.2,NM_080680.2,NM_080681.2 ,, 51,1026,5426 TT,TC,CC 10.9186,4.2896,8.6729 ,, ,, 33137689 1128,11878 2203 4300 6503 SO:0001627 intron_variant U32169 CCDS43452.1, CCDS54992.1 6p21.3 2013-01-16 ENSG00000204248 ENSG00000204248 1302 Collagens 2187 protein-coding gene gene with protein product 120290 DFNA13, DFNB53 NA 7559422, 10581026 Standard NM_080679 NA Approved HKE5 uc003ocx.1 P13942 OTTHUMG00000031036 ENST00000374708.4:c.3379-28G>A chr6.hg19:g.33137689C>T NA A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9 hg19 CCDS43452.1 0.02 10.081392 CCTxCTC COVERED NOVEL COL11A2-001 KNOWN not_organism_supported|basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000076032.2 4 12.941117 KEEP 0 0 0 43 1461 CC 1 1 0 - 8 60 285 0 0 16.771814 255 60 9491 378 ENST00000374708.4 0.030418 1 COL11A2 1302 __UNKNOWN__ __UNKNOWN__ 6 33138021 33138021 __UNKNOWN__ Intron SNP G G A rs9368758 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:33138021G>A ENST00000374708.4 - 46 3583 COL11A2_ENST00000374714.1_Intron|COL11A2_ENST00000361917.1_Intron|COL11A2_ENST00000374712.1_Intron|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000395197.1_Intron|COL11A2_ENST00000341947.2_Intron|COL11A2_ENST00000357486.1_Intron|COL11A2_ENST00000374713.1_Intron NM_080681.2 NP_542412.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 NA NA cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023) collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576) extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674) biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 CCCCTGAGACGATACTAGAGT 0.562 NA G||| 885 0.176717 0.1067 0.0807 5008 , , NA 15124 0.4871 NA 0.0954 False NA ,,, NA NA NA 2504 0.1033 NA NA NA Melanoma(1;90 116 3946 5341 17093) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U32169 CCDS43452.1, CCDS54992.1 6p21.3 2013-01-16 ENSG00000204248 ENSG00000204248 1302 Collagens 2187 protein-coding gene gene with protein product 120290 DFNA13, DFNB53 NA 7559422, 10581026 Standard NM_080679 NA Approved HKE5 uc003ocx.1 P13942 OTTHUMG00000031036 ENST00000374708.4:c.3324+81C>T chr6.hg19:g.33138021G>A NA A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9 hg19 CCDS43452.1 0.02 6.206528 GACxATA COVERED NOVEL COL11A2-001 KNOWN not_organism_supported|basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000076032.2 0 8.124462 KEEP 0 0 0 27 897 GG 0.999988 0.999988 0 - 6 60 221 0 0 13.415872 183 60 6287 259 ENST00000374708.4 0.031746 1 COL11A2 1302 __UNKNOWN__ __UNKNOWN__ 6 33141253 33141253 __UNKNOWN__ Intron SNP T T G rs9277932 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:33141253T>G ENST00000374708.4 - 34 2683 COL11A2_ENST00000374714.1_Intron|COL11A2_ENST00000361917.1_Intron|COL11A2_ENST00000374712.1_Intron|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000395197.1_Intron|COL11A2_ENST00000341947.2_Intron|COL11A2_ENST00000357486.1_Intron|COL11A2_ENST00000374713.1_Intron NM_080681.2 NP_542412.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 NA NA cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023) collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576) extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674) biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 AGAAGCGAGGTGGGTCAGAGC 0.622 NA T||| 3231 0.645168 0.612 0.6542 5008 , , NA 15087 0.7867 NA 0.5447 False NA ,,, NA NA NA 2504 0.6411 NA NA NA Melanoma(1;90 116 3946 5341 17093) NA 0 T ,, 2467,1937 763,941,498 58 69 65 ,, -5.3 0 6 dbSNP_118 65 4490,4110 1304,1882,1114 yes intron,intron,intron COL11A2 NM_080679.2,NM_080680.2,NM_080681.2 ,, 2067,2823,1612 GG,GT,TT 47.7907,43.9827,46.5011 ,, ,, 33141253 6957,6047 2202 4300 6502 SO:0001627 intron_variant U32169 CCDS43452.1, CCDS54992.1 6p21.3 2013-01-16 ENSG00000204248 ENSG00000204248 1302 Collagens 2187 protein-coding gene gene with protein product 120290 DFNA13, DFNB53 NA 7559422, 10581026 Standard NM_080679 NA Approved HKE5 uc003ocx.1 P13942 OTTHUMG00000031036 ENST00000374708.4:c.2424+25A>C chr6.hg19:g.33141253T>G NA A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9 hg19 CCDS43452.1 0.02 4.610273 AGGxGGG COVERED NOVEL COL11A2-001 KNOWN not_organism_supported|basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000076032.2 3 9.025462 KEEP 0 0 0 30 923 TT 0.999997 0.999997 0 - 7 60 255 0 0 16.943979 126 60 4298 218 ENST00000374708.4 0.052632 1 COL11A2 1302 __UNKNOWN__ __UNKNOWN__ 6 33157301 33157301 __UNKNOWN__ Intron SNP T T A rs56297647 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:33157301T>A ENST00000374708.4 - 2 341 COL11A2_ENST00000374714.1_Intron|COL11A2_ENST00000361917.1_Intron|COL11A2_ENST00000374712.1_Intron|COL11A2_ENST00000395197.1_Intron|COL11A2_ENST00000341947.2_Intron|COL11A2_ENST00000395194.1_Intron|COL11A2_ENST00000357486.1_Intron|COL11A2_ENST00000374713.1_Intron NM_080681.2 NP_542412.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 NA NA cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023) collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576) extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674) biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 AGGGCATAAATAGGGGACATT 0.552 NA T||| 79 0.0157748 0.0061 0.0072 5008 , , NA 20128 0.006 NA 0.0229 False NA ,,, NA NA NA 2504 0.0378 NA NA NA Melanoma(1;90 116 3946 5341 17093) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U32169 CCDS43452.1, CCDS54992.1 6p21.3 2013-01-16 ENSG00000204248 ENSG00000204248 1302 Collagens 2187 protein-coding gene gene with protein product 120290 DFNA13, DFNB53 NA 7559422, 10581026 Standard NM_080679 NA Approved HKE5 uc003ocx.1 P13942 OTTHUMG00000031036 ENST00000374708.4:c.83-55A>T chr6.hg19:g.33157301T>A NA A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9 hg19 CCDS43452.1 0.02 5.496117 AAAxAGG COVERED NOVEL COL11A2-001 KNOWN not_organism_supported|basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000076032.2 1 9.626986 KEEP 0 0 0 32 969 TT 0.999998 0.999998 0 - 8 60 280 0 0 17.631127 171 60 6119 259 ENST00000374708.4 0.044693 1 RXRB 6257 __UNKNOWN__ __UNKNOWN__ 6 33162082 33162082 __UNKNOWN__ 3'UTR SNP T T A rs2072915 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:33162082T>A ENST00000374685.4 - 0 2128 RXRB_ENST00000374680.3_3'UTR P28702 RXRB_HUMAN retinoid X receptor, beta NA NA cardiac muscle cell proliferation (GO:0060038)|cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012) nucleoplasm (GO:0005654)|nucleus (GO:0005634) 9-cis retinoic acid receptor activity (GO:0004886)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270) endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2) 15 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tazarotene(DB00799)|Tretinoin(DB00755) TCTGGGGGAGTTCCCCATTTC 0.577 NA T||| 1612 0.321885 0.3858 0.2723 5008 , , NA 17582 0.2431 NA 0.2773 False NA ,,, NA NA NA 2504 0.3978 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M84820 CCDS4768.1, CCDS59007.1 6p21.3 2013-01-16 ENSG00000204231 ENSG00000204231 6257 Nuclear hormone receptors 10478 protein-coding gene gene with protein product nuclear receptor subfamily 2 group B member 2 180246 NA 8257090 Standard NM_021976 NM_021976 NA Approved NR2B2, H-2RIIBP, RCoR-1 uc003odc.4 P28702 OTTHUMG00000031298 ENST00000374685.4:c.*377A>T chr6.hg19:g.33162082T>A NA P28703|Q59G65|Q5JP92|Q5STQ1 hg19 CCDS59007.1 0.02 10.920364 GAGxTCC COVERED NOVEL RXRB-002 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000076644.2 2 15.041112 KEEP 0 0 0 50 1551 TT 1 1 0 - 10 60 346 0 0 21.110258 243 60 8375 376 ENST00000374685.4 0.039526 1 SLC39A7 7922 __UNKNOWN__ __UNKNOWN__ 6 33169895 33169895 __UNKNOWN__ Silent SNP C C G rs1547387 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:33169895C>G ENST00000374677.3 + 3 1000 c.627C>G c.(625-627)tcC>tcG p.S209S SLC39A7_ENST00000374675.3_Silent_p.S209S NM_006979.2 NP_008910.2 Q92504 S39A7_HUMAN solute carrier family 39 (zinc transporter), member 7 209 NA transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829) endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020) metal ion transmembrane transporter activity (GO:0046873) NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 18 ATGGACACTCCCACAGTGGTG 0.552 NA C||| 428 0.0854633 0.0287 0.0533 5008 , , NA 20191 0.0486 NA 0.1044 False NA ,,, NA NA NA 2504 0.2035 NA NA NA NA 0 C , 100,2440 5,90,1175 69 71 70 627,627 -0.5 1 6 dbSNP_88 70 545,4569 27,491,2039 yes coding-synonymous,coding-synonymous SLC39A7 NM_001077516.1,NM_006979.2 , 32,581,3214 GG,GC,CC 10.657,3.937,8.427 , 209/470,209/470 33169895 645,7009 1270 2557 3827 SO:0001819 synonymous_variant AF117221 CCDS43453.1 6p21.3 2014-01-28 2003-10-27 ENSG00000112473 ENSG00000112473 7922 Solute carriers 4927 protein-coding gene gene with protein product 601416 HLA class II region expressed gene KE4 HKE4 NA 8812499, 1855816, 19246244, 15705588 Standard NM_006979 NM_006979 NA Approved H2-KE4, D6S2244E, KE4, RING5, ZIP7 uc003odf.3 Q92504 OTTHUMG00000031238 ENST00000374677.3:c.627C>G chr6.hg19:g.33169895C>G NA B0UXF6|Q5STP8|Q9UIQ0 hg19 CCDS43453.1 0.02 4.57523 CTCxCAC COVERED NOVEL SLC39A7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076499.2 2 15.348891 KEEP 0 0 0 51 1755 CC 1 0.999997 0 + 5 60 178 0 0 11.27812 109 60 3915 195 ENST00000374677.3 0.04386 0.999997 RGL2 5863 __UNKNOWN__ __UNKNOWN__ 6 33264262 33264262 __UNKNOWN__ Intron SNP T T C rs77579659 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:33264262T>C ENST00000497454.1 - 5 915 RGL2_ENST00000437840.2_Intron|PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000444031.2_Intron NM_001243738.1|NM_004761.4 NP_001230667.1|NP_004752.1 O15211 RGL2_HUMAN ral guanine nucleotide dissociation stimulator-like 2 NA NA positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265) intracellular (GO:0005622) Ras guanyl-nucleotide exchange factor activity (GO:0005088) breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 34 GAAGAGGATCTATCTGTCCAT 0.507 NA T||| 18 0.00359425 0.0 0.0 5008 , , NA 19392 0.0179 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 81 82 82 NA NA 6 NA 33264262 2203 4300 6503 SO:0001627 intron_variant CCDS4774.1 6p21.3 2010-02-17 2004-06-11 2004-06-16 ENSG00000237441 ENSG00000237441 5863 9769 protein-coding gene gene with protein product 602306 RAB2, member RAS oncogene family-like RAB2L NA 8976381 Standard NM_001243738 NA Approved KE1.5, HKE1.5 uc003odv.3 O15211 OTTHUMG00000031072 ENST00000497454.1:c.420-21A>G chr6.hg19:g.33264262T>C NA B4DG72|Q5STK0|Q9Y3F3 hg19 CCDS4774.1 0.02 15.839894 ATCxATC COVERED NOVEL RGL2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076098.2 3 39.403791 KEEP 0 0 0 131 4020 TT 1 1 0 - 17 60 613 0 0 38.979469 379 60 13798 622 ENST00000497454.1 0.042929 1 ZBTB22 9278 __UNKNOWN__ __UNKNOWN__ 6 33282326 33282326 __UNKNOWN__ 3'UTR SNP G G C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:33282326G>C ENST00000431845.2 - 0 2519 ZBTB22_ENST00000418724.1_3'UTR NM_005453.4 NP_005444.4 O15209 ZBT22_HUMAN zinc finger and BTB domain containing 22 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3) 21 GAAGTCGGGGGTGGCGGGGAG 0.522 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Z97183 CCDS4775.1 6p21.3 2013-01-09 2006-04-12 2006-04-12 ENSG00000236104 ENSG00000236104 9278 -, BTB/POZ domain containing, Zinc fingers, C2H2-type 13085 protein-coding gene gene with protein product 611439 zinc finger protein 297 ZNF297 NA Standard NM_005453 NA Approved BING1, ZNF297A, fruitless, fru, ZBTB22A uc010juu.3 O15209 OTTHUMG00000031110 ENST00000431845.2:c.*463C>G chr6.hg19:g.33282326G>C NA B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82 hg19 CCDS4775.1 0.02 9.3172 GGGxTGG COVERED NOVEL ZBTB22-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076183.2 1 20.46658 KEEP 0 0 0 68 2422 GG 1 1 0 - 8 60 300 0 0 19.080463 201 60 7292 316 ENST00000431845.2 0.038278 1 KIFC1 3833 __UNKNOWN__ __UNKNOWN__ 6 33359716 33359716 __UNKNOWN__ 5'UTR SNP G G C rs465223 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:33359716G>C ENST00000428849.2 + 0 404 NM_002263.3 NP_002254.2 Q9BW19 KIFC1_HUMAN kinesin family member C1 NA NA ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|spindle assembly (GO:0051225) endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|minus-end-directed microtubule motor activity (GO:0008569) endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1) 13 CCGGCACCCAGTTCTCTTCCA 0.697 NA G||| 1451 0.289736 0.0855 0.3703 5008 , , NA 13902 0.3234 NA 0.4026 False NA ,,, NA NA NA 2504 0.3579 NA NA NA NA 0 G 562,3844 231.0+/-245.0 48,466,1689 28 27 28 1.4 0 6 dbSNP_80 28 3128,5470 437.5+/-358.6 607,1914,1778 yes utr-5 KIFC1 NM_002263.3 655,2380,3467 CC,CG,GG 36.3806,12.7553,28.3759 33359716 3690,9314 2203 4299 6502 SO:0001623 5_prime_UTR_variant D14678 CCDS34430.1 6p21.32 2014-05-15 2003-01-09 2003-01-10 ENSG00000237649 ENSG00000237649 3833 Kinesins 6389 protein-coding gene gene with protein product 603763 kinesin-like 2 KNSL2 NA 8276466 Standard NM_002263 NM_002263 NA Approved HSET uc003oef.4 Q9BW19 OTTHUMG00000031209 ENST00000428849.2:c.-47G>C chr6.hg19:g.33359716G>C NA O60887|Q14834|Q4KMP0|Q5SU09|Q6GMS7|Q6P4A5|Q9UQP7 hg19 CCDS34430.1 0.02 23.25678 CCAxTTC COVERED NOVEL KIFC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076417.1 2 97.809908 KEEP 0 0 0 325 11778 GG 1 1 0 + 13 60 506 0 0 30.592043 491 60 18560 1113 ENST00000428849.2 0.025794 1 SYNGAP1 8831 __UNKNOWN__ __UNKNOWN__ 6 33393510 33393510 __UNKNOWN__ Intron SNP G G C rs535758367 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:33393510G>C ENST00000418600.2 + 3 290 SYNGAP1_ENST00000293748.5_Intron|SYNGAP1_ENST00000496374.1_Intron NM_006772.2 NP_006763.2 Q96PV0 SYGP1_HUMAN synaptic Ras GTPase activating protein 1 NA NA dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542) cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235) Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1) 43 GGAGGCGGAGGGGGGAAGAGG 0.672 NA G||| 1 0.000199681 0.0 0.0 5008 , , NA 8513 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB067525 CCDS34434.2 6p21.3 2010-06-25 2010-06-25 ENSG00000197283 ENSG00000197283 8831 11497 protein-coding gene gene with protein product 603384 synaptic Ras GTPase activating protein 1 homolog (rat) NA 9581761, 18323856 Standard XM_166407 NM_006772 NA Approved SYNGAP, RASA5, KIAA1938 uc011dri.2 Q96PV0 OTTHUMG00000031096 ENST00000418600.2:c.190-65G>C chr6.hg19:g.33393510G>C NA A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2 hg19 CCDS34434.2 0.02 2.330825 GAGxGGG COVERED NOVEL SYNGAP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076151.4 1 22.571919 KEEP 0 0 0 75 2581 GG 1 0.998465 0 + 5 60 184 0 0 12.845329 69 60 2402 176 ENST00000418600.2 0.067568 0.998465 SYNGAP1 8831 __UNKNOWN__ __UNKNOWN__ 6 33399778 33399778 __UNKNOWN__ Intron SNP C C T rs9394145 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:33399778C>T ENST00000418600.2 + 4 396 SYNGAP1_ENST00000428982.2_Missense_Mutation_p.R31C|SYNGAP1_ENST00000293748.5_Intron|SYNGAP1_ENST00000496374.1_Intron NM_006772.2 NP_006763.2 Q96PV0 SYGP1_HUMAN synaptic Ras GTPase activating protein 1 NA NA dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542) cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235) Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1) 43 TCTCCGCCGTCGCTGCTCTTC 0.692 NA C||| 1126 0.22484 0.0129 0.3242 5008 , , NA 12972 0.25 NA 0.3151 False NA ,,, NA NA NA 2504 0.3221 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB067525 CCDS34434.2 6p21.3 2010-06-25 2010-06-25 ENSG00000197283 ENSG00000197283 8831 11497 protein-coding gene gene with protein product 603384 synaptic Ras GTPase activating protein 1 homolog (rat) NA 9581761, 18323856 Standard XM_166407 NM_006772 NA Approved SYNGAP, RASA5, KIAA1938 uc011dri.2 Q96PV0 OTTHUMG00000031096 ENST00000418600.2:c.296-160C>T chr6.hg19:g.33399778C>T NA A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2 hg19 CCDS34434.2 0.02 6.232731 CGTxGCT COVERED 528 0.24175824175824176 10 0.02032520325203252 131 0.36187845303867405 140 0.24475524475524477 247 0.3258575197889182 C 12.22 1.871415 0.33069 . . ENSG00000197283 ENST00000428982 T 0.18338 2.22 4.62 2.78 0.32641 . . . . . T 0.09905 0.0243 . . . 0.09310 P 0.999999996938 . . . . . . T 0.11324 -1.0592 5 0.72032 D 0.01 . 5.7862 0.18334 0.191:0.707:0.0:0.102 rs9394145;rs58791664;rs9394145 . . . C 31 ENSP00000412475:R31C ENSP00000412475:R31C R + 1 0 SYNGAP1 33507756 0.999000 0.42202 0.999000 0.59377 0.932000 0.56968 0.532000 0.23067 0.462000 0.27095 -0.218000 0.12543 CGC NOVEL SYNGAP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000076151.4 0 24.910087 KEEP 0 0 0 83 2697 CC 1 1 0 + 8 60 287 0 0 18.19837 178 60 5980 316 ENST00000418600.2 0.043011 1 ITPR3 3710 __UNKNOWN__ __UNKNOWN__ 6 33625696 33625696 __UNKNOWN__ Intron SNP T T C rs2274200 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:33625696T>C ENST00000374316.5 + 5 1342 ITPR3_ENST00000605930.1_Intron Q14573 ITPR3_HUMAN inositol 1,4,5-trisphosphate receptor, type 3 NA NA activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281) apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235) inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091) NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Caffeine(DB00201) CACTTCTGTGTGTGTCTGTGC 0.542 NA T||| 1020 0.203674 0.0295 0.2882 5008 , , NA 21929 0.2599 NA 0.2435 False NA ,,, NA NA NA 2504 0.2802 NA NA NA NA 0 T 283,4123 155.2+/-188.4 14,255,1934 129 95 107 -2.8 0 6 dbSNP_100 107 1977,6623 343.2+/-324.8 228,1521,2551 no intron ITPR3 NM_002224.3 242,1776,4485 CC,CT,TT 22.9884,6.4231,17.3766 33625696 2260,10746 2203 4300 6503 SO:0001627 intron_variant D26351 CCDS4783.1 6p21.31 2011-11-24 2011-04-28 ENSG00000096433 ENSG00000096433 3710 Ion channels / Inositol triphosphate receptors 6182 protein-coding gene gene with protein product 147267 inositol 1,4,5-triphosphate receptor, type 3 NA 8081734, 8288584 Standard NM_002224 NM_002224 NA Approved IP3R3 uc021ywr.1 Q14573 OTTHUMG00000014532 ENST00000374316.5:c.283-13T>C chr6.hg19:g.33625696T>C NA Q14649|Q5TAQ2 hg19 CCDS4783.1 0.02 8.247178 GTGxGTG COVERED NOVEL ITPR3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040204.2 5 14.74273 KEEP 0 0 0 49 1494 TT 1 1 0 + 8 60 274 0 0 16.004356 232 70 8441 371 ENST00000374316.5 0.033333 1 ITPR3 3710 __UNKNOWN__ __UNKNOWN__ 6 33630816 33630816 __UNKNOWN__ Intron SNP G G A rs2296338 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:33630816G>A ENST00000374316.5 + 10 2014 ITPR3_ENST00000605930.1_Intron Q14573 ITPR3_HUMAN inositol 1,4,5-trisphosphate receptor, type 3 NA NA activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281) apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235) inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091) NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Caffeine(DB00201) GCTGGGGCTCGTGTGTGCATG 0.562 NA g||| 2742 0.547524 0.5983 0.598 5008 , , NA 21353 0.4087 NA 0.5885 False NA ,,, NA NA NA 2504 0.544 NA NA NA NA 0 2665,1731 812,1041,345 55 46 49 -3.5 0 6 dbSNP_100 49 4744,3852 1340,2064,894 no intron ITPR3 NM_002224.3 2152,3105,1239 AA,AG,GG 44.8115,39.3767,42.9726 33630816 7409,5583 2198 4298 6496 SO:0001627 intron_variant D26351 CCDS4783.1 6p21.31 2011-11-24 2011-04-28 ENSG00000096433 ENSG00000096433 3710 Ion channels / Inositol triphosphate receptors 6182 protein-coding gene gene with protein product 147267 inositol 1,4,5-triphosphate receptor, type 3 NA 8081734, 8288584 Standard NM_002224 NM_002224 NA Approved IP3R3 uc021ywr.1 Q14573 OTTHUMG00000014532 ENST00000374316.5:c.954+33G>A chr6.hg19:g.33630816G>A NA Q14649|Q5TAQ2 hg19 CCDS4783.1 0.02 4.783709 CTCxTGT COVERED NOVEL ITPR3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040204.2 0 6.922111 KEEP 0 0 0 23 787 GG 0.999892 0.999888 0 + 10 60 367 0 0 26.877484 102 60 3697 168 ENST00000374316.5 0.089286 0.999996 ITPR3 3710 __UNKNOWN__ __UNKNOWN__ 6 33638335 33638335 __UNKNOWN__ Missense_Mutation SNP C C T rs200707174 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:33638335C>T ENST00000374316.5 + 20 3483 c.2423C>T c.(2422-2424)aCa>aTa p.T808I ITPR3_ENST00000605930.1_Missense_Mutation_p.T808I Q14573 ITPR3_HUMAN inositol 1,4,5-trisphosphate receptor, type 3 808 NA activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281) apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235) inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091) NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Caffeine(DB00201) GAGATCCCCACAGCCATCACC 0.647 NA C||| 2 0.000399361 0.0 0.0 5008 , , NA 13097 0.002 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 57 55 56 NA NA 6 NA 33638335 2203 4300 6503 SO:0001583 missense D26351 CCDS4783.1 6p21.31 2011-11-24 2011-04-28 ENSG00000096433 ENSG00000096433 3710 Ion channels / Inositol triphosphate receptors 6182 protein-coding gene gene with protein product 147267 inositol 1,4,5-triphosphate receptor, type 3 NA 8081734, 8288584 Standard NM_002224 NM_002224 NA Approved IP3R3 uc021ywr.1 Q14573 OTTHUMG00000014532 ENST00000374316.5:c.2423C>T chr6.hg19:g.33638335C>T ENSP00000363435:p.Thr808Ile NA Q14649|Q5TAQ2 hg19 CCDS4783.1 0.02 6.225451 CCAxAGC COVERED 2 9.157509157509158E-4 0 0.0 0 0.0 2 0.0034965034965034965 0 0.0 C 24.6 4.554459 0.86231 . . ENSG00000096433 ENST00000374316 D 0.92149 -2.98 4.92 4.92 0.64577 . 0.000000 0.85682 D 0.000000 D 0.90601 0.7053 M 0.62723 1.935 0.58432 D 0.999997 P 0.41848 0.763 P 0.44394 0.448 D 0.91984 0.5597 10 0.62326 D 0.03 -11.328 18.1189 0.89565 0.0:1.0:0.0:0.0 . 808 Q14573 ITPR3_HUMAN I 808 ENSP00000363435:T808I ENSP00000363435:T808I T + 2 0 ITPR3 33746313 1.000000 0.71417 0.993000 0.49108 0.997000 0.91878 7.728000 0.84847 2.281000 0.76405 0.563000 0.77884 ACA NOVEL ITPR3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040204.2 0 12.004133 KEEP 0 0 0 40 1372 CC 1 1 0 + 7 60 255 0 0 16.282331 157 60 5898 250 ENST00000374316.5 0.042683 1 ITPR3 3710 __UNKNOWN__ __UNKNOWN__ 6 33643558 33643558 __UNKNOWN__ Silent SNP G G A rs2229637 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:33643558G>A ENST00000374316.5 + 26 4267 c.3207G>A c.(3205-3207)ccG>ccA p.P1069P ITPR3_ENST00000605930.1_Silent_p.P1069P Q14573 ITPR3_HUMAN inositol 1,4,5-trisphosphate receptor, type 3 1069 NA activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281) apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235) inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091) NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Caffeine(DB00201) ACTATGCGCCGCTGGTCTCGG 0.647 NA G||| 890 0.177716 0.1906 0.245 5008 , , NA 21343 0.0704 NA 0.2843 False NA ,,, NA NA NA 2504 0.1135 NA NA NA NA 0 G 862,3544 317.4+/-295.1 75,712,1416 40 30 34 3207 -11.3 0 6 dbSNP_98 34 2451,6149 382.4+/-340.4 357,1737,2206 no coding-synonymous ITPR3 NM_002224.3 432,2449,3622 AA,AG,GG 28.5,19.5642,25.4729 1069/2672 33643558 3313,9693 2203 4300 6503 SO:0001819 synonymous_variant D26351 CCDS4783.1 6p21.31 2011-11-24 2011-04-28 ENSG00000096433 ENSG00000096433 3710 Ion channels / Inositol triphosphate receptors 6182 protein-coding gene gene with protein product 147267 inositol 1,4,5-triphosphate receptor, type 3 NA 8081734, 8288584 Standard NM_002224 NM_002224 NA Approved IP3R3 uc021ywr.1 Q14573 OTTHUMG00000014532 ENST00000374316.5:c.3207G>A chr6.hg19:g.33643558G>A NA Q14649|Q5TAQ2 hg19 CCDS4783.1 0.02 4.264879 GCCxCTG COVERED NOVEL ITPR3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040204.2 0 19.863491 KEEP 0 0 0 66 2309 GG 1 1 0 + 10 60 330 0 0 22.212655 128 60 4500 277 ENST00000374316.5 0.072464 1 ITPR3 3710 __UNKNOWN__ __UNKNOWN__ 6 33645457 33645457 __UNKNOWN__ Intron SNP C C G rs9469552 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:33645457C>G ENST00000374316.5 + 29 4708 ITPR3_ENST00000605930.1_Intron Q14573 ITPR3_HUMAN inositol 1,4,5-trisphosphate receptor, type 3 NA NA activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281) apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235) inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091) NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Caffeine(DB00201) CCCCCTGAACCCCGGCCTGAC 0.602 NA C||| 577 0.115216 0.1278 0.0965 5008 , , NA 19249 0.1667 NA 0.0924 False NA ,,, NA NA NA 2504 0.0818 NA NA NA NA 0 C 483,3923 204.5+/-226.7 23,437,1743 39 33 35 1.6 0 6 dbSNP_119 35 665,7935 157.5+/-211.1 33,599,3668 no intron ITPR3 NM_002224.3 56,1036,5411 GG,GC,CC 7.7326,10.9623,8.8267 33645457 1148,11858 2203 4300 6503 SO:0001627 intron_variant D26351 CCDS4783.1 6p21.31 2011-11-24 2011-04-28 ENSG00000096433 ENSG00000096433 3710 Ion channels / Inositol triphosphate receptors 6182 protein-coding gene gene with protein product 147267 inositol 1,4,5-triphosphate receptor, type 3 NA 8081734, 8288584 Standard NM_002224 NM_002224 NA Approved IP3R3 uc021ywr.1 Q14573 OTTHUMG00000014532 ENST00000374316.5:c.3648+51C>G chr6.hg19:g.33645457C>G NA Q14649|Q5TAQ2 hg19 CCDS4783.1 0.02 4.383033 AACxCCG COVERED NOVEL ITPR3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040204.2 1 6.922716 KEEP 0 0 0 23 828 CC 0.999892 0.999892 0 + 6 60 217 0 0 13.910733 129 60 4664 181 ENST00000374316.5 0.044444 1 ITPR3 3710 __UNKNOWN__ __UNKNOWN__ 6 33650430 33650430 __UNKNOWN__ Intron SNP G G C rs2296331 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:33650430G>C ENST00000374316.5 + 35 5657 ITPR3_ENST00000605930.1_Intron Q14573 ITPR3_HUMAN inositol 1,4,5-trisphosphate receptor, type 3 NA NA activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281) apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235) inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091) NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Caffeine(DB00201) GGGTGAGTGTGCCGGGGCACT 0.637 NA G||| 979 0.195487 0.3154 0.2061 5008 , , NA 15461 0.0685 NA 0.2237 False NA ,,, NA NA NA 2504 0.1278 NA NA NA NA 0 G 1165,3237 157,851,1193 26 24 25 0 0 6 dbSNP_100 25 1877,6715 205,1467,2624 no intron ITPR3 NM_002224.3 362,2318,3817 CC,CG,GG 21.8459,26.4652,23.4108 33650430 3042,9952 2201 4296 6497 SO:0001627 intron_variant D26351 CCDS4783.1 6p21.31 2011-11-24 2011-04-28 ENSG00000096433 ENSG00000096433 3710 Ion channels / Inositol triphosphate receptors 6182 protein-coding gene gene with protein product 147267 inositol 1,4,5-triphosphate receptor, type 3 NA 8081734, 8288584 Standard NM_002224 NM_002224 NA Approved IP3R3 uc021ywr.1 Q14573 OTTHUMG00000014532 ENST00000374316.5:c.4597+9G>C chr6.hg19:g.33650430G>C NA Q14649|Q5TAQ2 hg19 CCDS4783.1 0.02 8.746032 TGTxCCG COVERED NOVEL ITPR3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040204.2 2 23.709364 KEEP 0 0 0 79 2708 GG 1 1 0 + 11 60 375 0 0 24.177319 195 60 7053 381 ENST00000374316.5 0.053398 1 ITPR3 3710 __UNKNOWN__ __UNKNOWN__ 6 33656603 33656603 __UNKNOWN__ Intron SNP G G A rs148527363 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:33656603G>A ENST00000374316.5 + 50 7754 ITPR3_ENST00000605930.1_Intron Q14573 ITPR3_HUMAN inositol 1,4,5-trisphosphate receptor, type 3 NA NA activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281) apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235) inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091) NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Caffeine(DB00201) GCCCTGCCATGCTTCCTCCCT 0.622 NA G||| 78 0.0155751 0.0 0.0375 5008 , , NA 16811 0.0327 NA 0.0 False NA ,,, NA NA NA 2504 0.0194 NA NA NA NA 0 G 2,4404 2.1+/-5.4 0,2,2201 46 45 45 -0.6 0 6 dbSNP_134 45 1,8599 1.2+/-3.3 0,1,4299 no intron ITPR3 NM_002224.3 0,3,6500 AA,AG,GG 0.0116,0.0454,0.0231 33656603 3,13003 2203 4300 6503 SO:0001627 intron_variant D26351 CCDS4783.1 6p21.31 2011-11-24 2011-04-28 ENSG00000096433 ENSG00000096433 3710 Ion channels / Inositol triphosphate receptors 6182 protein-coding gene gene with protein product 147267 inositol 1,4,5-triphosphate receptor, type 3 NA 8081734, 8288584 Standard NM_002224 NM_002224 NA Approved IP3R3 uc021ywr.1 Q14573 OTTHUMG00000014532 ENST00000374316.5:c.6694+45G>A chr6.hg19:g.33656603G>A NA Q14649|Q5TAQ2 hg19 CCDS4783.1 0.02 5.889974 CATxCTT COVERED NOVEL ITPR3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040204.2 0 13.243097 KEEP 0 0 0 44 1558 GG 1 1 0 + 7 60 247 0 0 15.031118 183 60 6803 266 ENST00000374316.5 0.036842 1 LEMD2 221496 __UNKNOWN__ __UNKNOWN__ 6 33739597 33739597 __UNKNOWN__ 3'UTR SNP A A G rs117235680 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:33739597A>G ENST00000293760.5 - 0 2339 NM_181336.3 NP_851853.1 Q8NC56 LEMD2_HUMAN LEM domain containing 2 NA NA negative regulation of MAPK cascade (GO:0043409)|skeletal muscle cell differentiation (GO:0035914) integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear membrane (GO:0031965) central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1) 9 ATCTTCGCACACAGCAAGTGC 0.627 NA OREG0017357 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) A||| 65 0.0129792 0.0 0.036 5008 , , NA 15881 0.0347 NA 0.0 False NA ,,, NA NA NA 2504 0.0051 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS4785.1, CCDS47411.1 6p21.31 2009-11-06 ENSG00000161904 ENSG00000161904 221496 21244 protein-coding gene gene with protein product NA 12477932 Standard XM_166338 NM_001143944 NA Approved dJ482C21.1, NET25 uc011drm.2 Q8NC56 OTTHUMG00000014535 ENST00000293760.5:c.*808T>C chr6.hg19:g.33739597A>G 842 B4DVH5|E7EVT2|Q5T972|Q5T974 hg19 CCDS4785.1 0.02 15.917677 CACxCAG COVERED NOVEL LEMD2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040209.3 1 43.928097 KEEP 0 0 0 146 4492 AA 1 1 0 - 12 60 419 0 0 24.673708 364 60 13023 682 ENST00000293760.5 0.031915 1 C6orf106 64771 __UNKNOWN__ __UNKNOWN__ 6 34654054 34654054 __UNKNOWN__ Intron SNP G G A rs147141251 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:34654054G>A ENST00000374023.3 - 1 402 C6orf106_ENST00000374026.3_Intron NM_024294.2 NP_077270.1 Q9H6K1 CF106_HUMAN chromosome 6 open reading frame 106 NA NA endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2) 10 gaggtgggcggatcatgaggt 0.498 NA G||| 384 0.0766773 0.0113 0.0231 5008 , , NA 16745 0.2371 NA 0.0139 False NA ,,, NA NA NA 2504 0.1022 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF052106 CCDS4795.1, CCDS4796.1 6p21.31 2012-01-27 ENSG00000196821 ENSG00000196821 64771 21215 protein-coding gene gene with protein product 612217 NA Standard NM_022758 XM_005249298 NA Approved FLJ22195, dJ391O22.4 uc003ojr.2 Q9H6K1 OTTHUMG00000014553 ENST00000374023.3:c.158+10168C>T chr6.hg19:g.34654054G>A NA B2R8K7|Q5VV77|Q96MG5|Q9BUR9 hg19 CCDS4796.1 0.02 -0.08773 GCGxATC UNCOVERED NOVEL C6orf106-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000040251.1 0 3.912849 KEEP 0 0 0 13 470 GG 0.994391 0.099162 0 - 3 60 108 0 0 9.578377 7 60 266 34 ENST00000374023.3 0.3 0.099721 UHRF1BP1 54887 __UNKNOWN__ __UNKNOWN__ 6 34803882 34803882 __UNKNOWN__ Intron SNP A A G rs77408330 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:34803882A>G ENST00000192788.5 + 8 1011 UHRF1BP1_ENST00000452449.2_Intron NM_017754.3 NP_060224.3 Q6BDS2 URFB1_HUMAN UHRF1 binding protein 1 NA NA histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802) breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 54 AAAGCCTACAAAGGATCTTTT 0.502 NA A||| 88 0.0175719 0.0 0.0043 5008 , , NA 19705 0.0843 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 A 5,3895 0,5,1945 96 104 101 -0.8 0 6 dbSNP_132 101 2,8352 0,2,4175 no intron UHRF1BP1 NM_017754.3 0,7,6120 GG,GA,AA 0.0239,0.1282,0.0571 34803882 7,12247 1950 4177 6127 SO:0001627 intron_variant AB126777 CCDS43455.1 6p21.31 2008-10-28 2008-08-15 2007-11-27 ENSG00000065060 ENSG00000065060 54887 21216 protein-coding gene gene with protein product chromosome 6 open reading frame 107 C6orf107 NA Standard NM_017754 NM_017754 NA Approved FLJ20302, dJ349A12.1, ICBP90 uc003oju.4 Q6BDS2 OTTHUMG00000014557 ENST00000192788.5:c.841-51A>G chr6.hg19:g.34803882A>G NA Q9NXE0 hg19 CCDS43455.1 0.02 4.388125 ACAxAGG COVERED NOVEL UHRF1BP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040260.1 2 10.232024 KEEP 0 0 0 34 1115 AA 0.999998 0.999997 0 + 5 60 186 0 0 11.891787 119 60 4222 204 ENST00000192788.5 0.040323 0.999999 UHRF1BP1 54887 __UNKNOWN__ __UNKNOWN__ 6 34838577 34838577 __UNKNOWN__ Intron SNP C C T rs3734262 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:34838577C>T ENST00000192788.5 + 18 3889 UHRF1BP1_ENST00000452449.2_Intron NM_017754.3 NP_060224.3 Q6BDS2 URFB1_HUMAN UHRF1 binding protein 1 NA NA histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802) breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 54 tataaggtgcctagaagactc 0.393 NA T||| 1339 0.267372 0.2156 0.183 5008 , , NA 22767 0.5734 NA 0.1143 False NA ,,, NA NA NA 2504 0.2393 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB126777 CCDS43455.1 6p21.31 2008-10-28 2008-08-15 2007-11-27 ENSG00000065060 ENSG00000065060 54887 21216 protein-coding gene gene with protein product chromosome 6 open reading frame 107 C6orf107 NA Standard NM_017754 NM_017754 NA Approved FLJ20302, dJ349A12.1, ICBP90 uc003oju.4 Q6BDS2 OTTHUMG00000014557 ENST00000192788.5:c.3719-54C>T chr6.hg19:g.34838577C>T NA Q9NXE0 hg19 CCDS43455.1 0.02 9.641593 TGCxTAG COVERED NOVEL UHRF1BP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040260.1 2 11.131733 KEEP 0 0 0 37 1265 CC 1 1 0 + 12 60 455 0 0 30.796843 217 60 7842 311 ENST00000192788.5 0.052402 1 UHRF1BP1 54887 __UNKNOWN__ __UNKNOWN__ 6 34840515 34840515 __UNKNOWN__ 3'UTR SNP C C T rs3822923 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:34840515C>T ENST00000192788.5 + 0 4794 UHRF1BP1_ENST00000452449.2_Intron NM_017754.3 NP_060224.3 Q6BDS2 URFB1_HUMAN UHRF1 binding protein 1 NA NA histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802) breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 54 ATCTTCTCAACACTGTAGGGC 0.507 NA C||| 466 0.0930511 0.0113 0.072 5008 , , NA 24330 0.2579 NA 0.0149 False NA ,,, NA NA NA 2504 0.1288 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB126777 CCDS43455.1 6p21.31 2008-10-28 2008-08-15 2007-11-27 ENSG00000065060 ENSG00000065060 54887 21216 protein-coding gene gene with protein product chromosome 6 open reading frame 107 C6orf107 NA Standard NM_017754 NM_017754 NA Approved FLJ20302, dJ349A12.1, ICBP90 uc003oju.4 Q6BDS2 OTTHUMG00000014557 ENST00000192788.5:c.*300C>T chr6.hg19:g.34840515C>T NA Q9NXE0 hg19 CCDS43455.1 0.02 4.120997 CAAxACT COVERED NOVEL UHRF1BP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040260.1 3 7.223461 KEEP 0 0 0 24 845 CC 0.999909 0.999909 0 + 11 60 395 0 0 27.911323 132 60 4963 189 ENST00000192788.5 0.076923 1 UHRF1BP1 54887 __UNKNOWN__ __UNKNOWN__ 6 34843055 34843055 __UNKNOWN__ 3'UTR SNP G G T rs58595551 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:34843055G>T ENST00000192788.5 + 0 7334 UHRF1BP1_ENST00000452449.2_Intron NM_017754.3 NP_060224.3 Q6BDS2 URFB1_HUMAN UHRF1 binding protein 1 NA NA histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802) breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 54 TCTTTCAAAGGCAGAATGTTG 0.403 NA G||| 696 0.138978 0.1415 0.098 5008 , , NA 21657 0.2579 NA 0.0378 False NA ,,, NA NA NA 2504 0.1462 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB126777 CCDS43455.1 6p21.31 2008-10-28 2008-08-15 2007-11-27 ENSG00000065060 ENSG00000065060 54887 21216 protein-coding gene gene with protein product chromosome 6 open reading frame 107 C6orf107 NA Standard NM_017754 NM_017754 NA Approved FLJ20302, dJ349A12.1, ICBP90 uc003oju.4 Q6BDS2 OTTHUMG00000014557 ENST00000192788.5:c.*2840G>T chr6.hg19:g.34843055G>T NA Q9NXE0 hg19 CCDS43455.1 0.02 4.079937 AAGxCAG COVERED NOVEL UHRF1BP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040260.1 1 7.223364 KEEP 0 0 0 24 850 GG 0.999909 0.999909 0 + 7 60 243 0 0 15.938366 118 60 4350 178 ENST00000192788.5 0.056 0.999999 UHRF1BP1 54887 __UNKNOWN__ __UNKNOWN__ 6 34844629 34844629 __UNKNOWN__ 3'UTR SNP T T C rs3734259 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:34844629T>C ENST00000192788.5 + 0 8908 UHRF1BP1_ENST00000452449.2_Intron NM_017754.3 NP_060224.3 Q6BDS2 URFB1_HUMAN UHRF1 binding protein 1 NA NA histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802) breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 54 GGAAACACTCTTGGATAACCT 0.418 NA T||| 705 0.140775 0.1415 0.098 5008 , , NA 19910 0.2669 NA 0.0378 False NA ,,, NA NA NA 2504 0.1462 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB126777 CCDS43455.1 6p21.31 2008-10-28 2008-08-15 2007-11-27 ENSG00000065060 ENSG00000065060 54887 21216 protein-coding gene gene with protein product chromosome 6 open reading frame 107 C6orf107 NA Standard NM_017754 NM_017754 NA Approved FLJ20302, dJ349A12.1, ICBP90 uc003oju.4 Q6BDS2 OTTHUMG00000014557 ENST00000192788.5:c.*4414T>C chr6.hg19:g.34844629T>C NA Q9NXE0 hg19 CCDS43455.1 0.02 6.934583 CTCxTGG COVERED NOVEL UHRF1BP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040260.1 0 9.628299 KEEP 0 0 0 32 1022 TT 0.999997 0.999997 0 + 7 60 272 0 0 17.413501 190 60 6971 267 ENST00000192788.5 0.035533 1 TAF11 6882 __UNKNOWN__ __UNKNOWN__ 6 34845648 34845648 __UNKNOWN__ 3'UTR SNP T T C rs2985 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:34845648T>C ENST00000361288.4 - 0 1486 UHRF1BP1_ENST00000452449.2_Intron NM_005643.3 NP_005634.1 Q15544 TAF11_HUMAN TAF11 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 28kDa NA NA gene expression (GO:0010467)|positive regulation by host of viral transcription (GO:0043923)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032) Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669) DNA binding (GO:0003677)|protein N-terminus binding (GO:0047485)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|vitamin D receptor binding (GO:0042809) endometrium(2)|kidney(1)|large_intestine(2)|lung(1) 6 TTCCTGCCATTACCGCATCCT 0.368 NA t||| 2130 0.425319 0.671 0.268 5008 , , NA 20283 0.5804 NA 0.1511 False NA ,,, NA NA NA 2504 0.3272 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X83928 CCDS4797.1, CCDS59014.1 6p21 2008-02-05 2002-08-29 2001-12-07 ENSG00000064995 ENSG00000064995 6882 11544 protein-coding gene gene with protein product 600772 TATA box binding protein (TBP)-associated factor, RNA polymerase II, I, 28kD TAF2I NA 7729427, 8820923 Standard NM_005643 NM_005643 NA Approved TAFII28 uc003ojw.2 Q15544 OTTHUMG00000014556 ENST00000361288.4:c.*719A>G chr6.hg19:g.34845648T>C NA B2R8R3|B4DY18|Q9UHS0 hg19 CCDS4797.1 0.02 6.986916 CATxACC COVERED NOVEL TAF11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040259.1 3 22.866552 KEEP 0 0 0 76 2298 TT 1 1 0 - 10 60 391 0 0 26.837333 181 60 6429 331 ENST00000361288.4 0.052356 1 ANKS1A 23294 __UNKNOWN__ __UNKNOWN__ 6 35058667 35058667 __UNKNOWN__ 3'UTR SNP C C T rs2296194 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:35058667C>T ENST00000360359.3 + 0 5824 NM_015245.2 NP_056060.2 Q92625 ANS1A_HUMAN ankyrin repeat and sterile alpha motif domain containing 1A NA NA ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929) cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634) cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 AGCTGCTCAGCGCATAAGACC 0.617 NA C||| 495 0.0988419 0.0431 0.085 5008 , , NA 17354 0.247 NA 0.0179 False NA ,,, NA NA NA 2504 0.1145 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D86982 CCDS4798.1 6p21.31 2013-01-10 2006-02-17 2006-02-17 ENSG00000064999 ENSG00000064999 23294 Sterile alpha motif (SAM) domain containing, Ankyrin repeat domain containing 20961 protein-coding gene gene with protein product 608994 ankyrin repeat and SAM domain containing 1, ankyrin repeat and sterile alpha motif domain containing 1 ANKS1 NA 9039502 Standard XM_166478 NM_015245 NA Approved KIAA0229 uc003ojx.4 Q92625 OTTHUMG00000014559 ENST00000360359.3:c.*2281C>T chr6.hg19:g.35058667C>T NA A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7 hg19 CCDS4798.1 0.02 4.48731 CAGxGCA COVERED NOVEL ANKS1A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040262.1 2 20.164755 KEEP 0 0 0 67 2307 CC 1 1 0 + 11 60 383 0 0 26.589214 136 60 4755 267 ENST00000360359.3 0.07483 1 TCP11 6954 __UNKNOWN__ __UNKNOWN__ 6 35108394 35108394 __UNKNOWN__ Intron SNP G G C rs9380493 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:35108394G>C ENST00000418521.2 - 2 187 TCP11_ENST00000311875.5_Intron|TCP11_ENST00000373974.4_Intron|TCP11_ENST00000444780.2_Intron|TCP11_ENST00000512012.1_Intron|TCP11_ENST00000244645.3_Intron|TCP11_ENST00000412155.2_Intron|TCP11_ENST00000510465.1_Intron|TCP11_ENST00000373979.2_Intron Q8WWU5 TCP11_HUMAN t-complex 11, testis-specific NA NA cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283) integral component of membrane (GO:0016021) breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4) 27 AAGGCGGGTGGGGGAGAAACG 0.532 NA G||| 503 0.100439 0.0545 0.1037 5008 , , NA 13459 0.2212 NA 0.0179 False NA ,,, NA NA NA 2504 0.1207 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS4799.1, CCDS47413.1, CCDS59015.1, CCDS59016.1, CCDS59017.1, CCDS59018.1 6p21.31 2012-09-20 2012-09-20 ENSG00000124678 ENSG00000124678 6954 11658 protein-coding gene gene with protein product fertilization-promoting peptide receptor 186982 t-complex 11 (a murine tcp homolog), t-complex 11 homolog (mouse) D6S230E NA 1427894, 11756566, 21597245 Standard NM_001093728 NM_001093728 NA Approved KIAA0229, FPPR uc003okd.2 Q8WWU5 OTTHUMG00000014560 ENST00000418521.2:c.65-4399C>G chr6.hg19:g.35108394G>C NA B2RCE9|B3KQ27|B7Z7B5|B7Z7G1|B7Z7H4|B7Z7S8|E7EP29|J3KNG1|Q8NF85|Q9NQZ9|Q9NR39 hg19 CCDS59015.1 0.02 3.523905 GTGxGGG COVERED NOVEL TCP11-015 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000370392.1 2 13.240165 KEEP 0 0 0 44 1467 GG 1 1 0 - 11 60 332 0 0 21.821111 132 60 4700 211 ENST00000418521.2 0.076923 1 SCUBE3 222663 __UNKNOWN__ __UNKNOWN__ 6 35209225 35209225 __UNKNOWN__ Intron SNP T T A rs3800382 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:35209225T>A ENST00000274938.7 + 11 1195 SCUBE3_ENST00000394681.1_Intron NM_152753.2 NP_689966.2 signal peptide, CUB domain, EGF-like 3 NA NA breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 37 TCTCCATGGGTACAACAATAG 0.438 NA OREG0017372 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) T||| 569 0.113618 0.0424 0.0965 5008 , , NA 2208 0.3274 NA 0.0189 False NA ,,, NA NA NA 2504 0.0992 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF452494.1 CCDS4800.1 6p21.3 2008-02-05 2004-05-19 2004-05-21 ENSG00000146197 222663 13655 protein-coding gene gene with protein product 614708 CUB domain and EGF-like repeat containing 3 CEGF3 NA 12270931 Standard NM_152753 NM_152753 NA Approved FLJ34743 uc003okf.1 Q8IX30 ENST00000274938.7:c.1196-95T>A chr6.hg19:g.35209225T>A 853 hg19 CCDS4800.1 0.02 8.953611 GGGxACA COVERED NOVEL SCUBE3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040275.1 1 10.829993 KEEP 0 0 0 36 1067 TT 0.999999 0.999999 0 + 9 60 299 0 0 18.515424 196 60 6845 281 ENST00000274938.7 0.043902 1 ZNF76 7629 __UNKNOWN__ __UNKNOWN__ 6 35260615 35260615 __UNKNOWN__ Intron SNP T T C rs4713848 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:35260615T>C ENST00000373953.3 + 11 1431 ZNF76_ENST00000440666.2_Intron|ZNF76_ENST00000339411.5_Intron NM_003427.3 NP_003418.2 P36508 ZNF76_HUMAN zinc finger protein 76 NA NA regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1) 16 GGCCTCCCCATGGCATCTGGT 0.632 NA T||| 568 0.113419 0.0416 0.0965 5008 , , NA 16523 0.3284 NA 0.0189 False NA ,,, NA NA NA 2504 0.0982 NA NA NA Esophageal Squamous(52;92 1039 20612 23956 34676) NA 0 T 152,4254 104.7+/-143.2 2,148,2053 54 56 55 1.7 0 6 dbSNP_111 55 170,8430 77.8+/-140.4 5,160,4135 no intron ZNF76 NM_003427.3 7,308,6188 CC,CT,TT 1.9767,3.4498,2.4758 35260615 322,12684 2203 4300 6503 SO:0001627 intron_variant M91592 CCDS4801.1, CCDS75435.1 6p21.31 2013-01-08 2011-02-25 ENSG00000065029 ENSG00000065029 7629 Zinc fingers, C2H2-type 13149 protein-coding gene gene with protein product 194549 zinc finger protein 76 (expressed in testis) D6S229E NA 1427894 Standard NM_003427 XM_005249364 NA Approved Zfp523, ZNF523 uc003oki.1 P36508 OTTHUMG00000014564 ENST00000373953.3:c.1166-43T>C chr6.hg19:g.35260615T>C NA Q9BQB2 hg19 CCDS4801.1 0.02 12.347126 CCAxGGC COVERED NOVEL ZNF76-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040279.2 4 18.341951 KEEP 0 0 0 61 1810 TT 1 1 0 + 19 60 641 0 0 41.397011 320 60 11603 486 ENST00000373953.3 0.056047 1 FANCE 2178 __UNKNOWN__ __UNKNOWN__ 6 35425416 35425416 __UNKNOWN__ Intron SNP A A G rs13214239 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:35425416A>G ENST00000229769.2 + 3 1085 NM_021922.2 NP_068741.1 Q9HB96 FANCE_HUMAN Fanconi anemia, complementation group E NA NA DNA repair (GO:0006281) Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2) 13 CCTTTCTTCCATCTTCTACCC 0.577 NA N, F, S AML, leukemia Involved in tolerance or repair of DNA crosslinks Fanconi Anemia A||| 1801 0.359625 0.053 0.5634 5008 , , NA 18338 0.3393 NA 0.5606 False NA ,,, NA NA NA 2504 0.4438 NA NA NA yes Rec Fanconi anaemia E 6 6p21-p22 2178 Fanconi anemia, complementation group E L 0 A 674,3732 284.0+/-277.4 57,560,1586 56 46 49 -4.1 0 6 dbSNP_121 49 4685,3915 601.5+/-394.4 1305,2075,920 no intron FANCE NM_021922.2 1362,2635,2506 GG,GA,AA 45.5233,15.2973,41.2041 35425416 5359,7647 2203 4300 6503 SO:0001627 intron_variant Familial Cancer Database Pancytopenia Dysmelia, FA (several complementation groups) AF265210 CCDS4805.1 6p22-p21 2014-09-17 ENSG00000112039 ENSG00000112039 2178 Fanconi anemia, complementation groups 3586 protein-coding gene gene with protein product 613976 FACE NA 7662964, 11001585 Standard XM_005248885 NA Approved FAE uc003oko.1 Q9HB96 OTTHUMG00000014565 ENST00000229769.2:c.900+39A>G chr6.hg19:g.35425416A>G NA A8K907|Q4ZGH2 hg19 CCDS4805.1 0.02 10.280649 TCCxTCT COVERED NOVEL FANCE-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040282.1 3 19.991553 KEEP 0 1 33 78 2387 AA 1 1 0 + 9 60 320 0 0 18.861057 283 60 10346 452 ENST00000229769.2 0.030822 1 RPL10A 4736 __UNKNOWN__ __UNKNOWN__ 6 35436673 35436673 __UNKNOWN__ Intron SNP G G C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:35436673G>C ENST00000322203.6 + 2 107 RPL10A_ENST00000467020.1_Intron NM_007104.4 NP_009035.3 P62906 RL10A_HUMAN ribosomal protein L10a NA NA anatomical structure morphogenesis (GO:0009653)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083) cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634) poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735) breast(1)|large_intestine(2)|ovary(1) 4 CCTGGGGCACGGCGCGGGTGG 0.652 NA NA NA NA NA NA NA NA NA NA NA 0 19 23 22 NA NA 6 NA 35436673 2202 4299 6501 SO:0001627 intron_variant U12404 CCDS4806.1 6p21.31 2011-04-06 ENSG00000198755 ENSG00000198755 4736 L ribosomal proteins 10299 protein-coding gene gene with protein product 615660 NEDD6 NA 7609734, 9647638 Standard NM_007104 NM_007104 NA Approved Csa-19, L10A uc003okp.1 P62906 OTTHUMG00000014566 ENST00000322203.6:c.80+23G>C chr6.hg19:g.35436673G>C NA B2R801|P52859|P53025|Q5TZT6|Q8J013 hg19 CCDS4806.1 0.02 10.081407 CACxGCG COVERED NOVEL RPL10A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040283.1 2 82.16372 KEEP 0 0 0 273 9566 GG 1 1 0 + 8 60 294 0 0 18.421238 205 60 7235 698 ENST00000322203.6 0.037559 1 SLC26A8 116369 __UNKNOWN__ __UNKNOWN__ 6 35923246 35923246 __UNKNOWN__ Missense_Mutation SNP T T C rs2295852 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:35923246T>C ENST00000490799.1 - 17 2268 c.1915A>G c.(1915-1917)Att>Gtt p.I639V SLC26A8_ENST00000355574.2_Missense_Mutation_p.I639V|SLC26A8_ENST00000394602.2_Missense_Mutation_p.I534V NM_052961.3 NP_443193.1 solute carrier family 26 (anion exchanger), member 8 NA NA breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 46 ATCAGGTTAATGGAGGATGCT 0.463 NA N||| 2041 0.407548 0.6967 0.2867 5008 , , NA 21471 0.2758 NA 0.3529 False NA ,,, NA NA NA 2504 0.2945 NA NA NA NA 0 C VAL/ILE,VAL/ILE,VAL/ILE 2807,1599 496.2+/-363.5 886,1035,282 198 191 193 1915,1915,1600 -5 0 6 dbSNP_100 193 3003,5597 664.5+/-402.2 551,1901,1848 yes missense,missense,missense SLC26A8 NM_001193476.1,NM_052961.3,NM_138718.2 29,29,29 1437,2936,2130 CC,CT,TT 34.9186,36.2914,44.6717 benign,benign,benign 639/971,639/971,534/866 35923246 5810,7196 2203 4300 6503 SO:0001583 missense AF331522 CCDS4813.1, CCDS4814.1 6p21 2013-07-18 2013-07-18 ENSG00000112053 ENSG00000112053 116369 Solute carriers 14468 protein-coding gene gene with protein product 608480 solute carrier family 26, member 8 NA 11834742, 11829495 Standard NM_001193476 NA Approved uc003olm.3 Q96RN1 OTTHUMG00000014586 ENST00000490799.1:c.1915A>G chr6.hg19:g.35923246T>C ENSP00000417638:p.Ile639Val NA hg19 CCDS4813.1 0.02 10.197092 TAAxGGA COVERED 835 0.3823260073260073 322 0.6544715447154471 106 0.292817679558011 152 0.26573426573426573 255 0.33641160949868076 C 3.950 -0.012529 0.07727 0.637086 0.349186 ENSG00000112053 ENST00000490799;ENST00000394602;ENST00000355574 D;D;D 0.94862 -3.16;-3.54;-3.16 5.01 -4.99 0.03010 Sulphate transporter/antisigma-factor antagonist STAS (3); 1.172630 0.06260 N 0.693768 T 0.72581 0.3478 L 0.31752 0.955 0.80722 P 0.0 B;B;B 0.15141 0.0;0.012;0.0 B;B;B 0.14023 0.001;0.01;0.001 T 0.67166 -0.5739 9 0.11485 T 0.65 . 2.4043 0.04409 0.1092:0.3104:0.1431:0.4373 rs2295852;rs17706470;rs52831325;rs58070509;rs2295852 639;534;221 Q96RN1;Q96RN1-2;Q96RN1-3 S26A8_HUMAN;.;. V 639;534;639 ENSP00000417638:I639V;ENSP00000378100:I534V;ENSP00000347778:I639V ENSP00000347778:I639V I - 1 0 SLC26A8 36031224 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -1.320000 0.02700 -1.280000 0.02402 -2.418000 0.00219 ATT NOVEL SLC26A8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040325.2 1 8.425479 KEEP 0 0 0 28 880 TT 0.999997 0.999997 0 - 9 60 305 0 0 17.888891 247 60 9157 348 ENST00000490799.1 0.035156 1 MAPK14 1432 __UNKNOWN__ __UNKNOWN__ 6 36076934 36076934 __UNKNOWN__ 3'UTR SNP G G A rs3804452 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:36076934G>A ENST00000229795.3 + 0 2240 MAPK14_ENST00000229794.4_3'UTR NM_001315.2 NP_001306.1 Q16539 MK14_HUMAN mitogen-activated protein kinase 14 NA NA 3'-UTR-mediated mRNA stabilization (GO:0070935)|activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cartilage condensation (GO:0001502)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to ionizing radiation (GO:0071479)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chemotaxis (GO:0006935)|chondrocyte differentiation (GO:0002062)|DNA damage checkpoint (GO:0000077)|fatty acid oxidation (GO:0019395)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mRNA metabolic process (GO:0016071)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myoblast differentiation involved in skeletal muscle regeneration (GO:0014835)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoclast differentiation (GO:0030316)|p38MAPK cascade (GO:0038066)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myoblast fusion (GO:1901741)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Ras protein signal transduction (GO:0007265)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to muramyl dipeptide (GO:0032495)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|signal transduction in response to DNA damage (GO:0042770)|skeletal muscle tissue development (GO:0007519)|stress-activated MAPK cascade (GO:0051403)|stress-induced premature senescence (GO:0090400)|striated muscle cell differentiation (GO:0051146)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vascular endothelial growth factor receptor signaling pathway (GO:0048010) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922) ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|MAP kinase kinase activity (GO:0004708)|NFAT protein binding (GO:0051525)|protein serine/threonine kinase activity (GO:0004674) central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1) 16 TTGTGGGCCCGGAGTAATCAG 0.517 NA G||| 383 0.0764776 0.0242 0.1095 5008 , , NA 20417 0.0456 NA 0.1193 False NA ,,, NA NA NA 2504 0.1115 NA NA NA Pancreas(20;8 363 26997 32430 36377 43317 49243 50560 51947)|Colon(176;951 1093 20177 30266 32328 34418 35271 44052 51610) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L35263 CCDS4815.1, CCDS4816.1, CCDS4817.1 6p21.3-p21.2 2011-06-09 ENSG00000112062 ENSG00000112062 1432 Mitogen-activated protein kinase cascade / Kinases 6876 protein-coding gene gene with protein product p38 MAP kinase 600289 CSPB1, CSBP1, CSBP2 NA 7997261 Standard NM_001315 NM_139012 NA Approved PRKM14, p38, Mxi2, PRKM15 uc003olq.3 Q16539 OTTHUMG00000159806 ENST00000229795.3:c.*710G>A chr6.hg19:g.36076934G>A NA A6ZJ92|A8K6P4|B0LPH0|B5TY32|O60776|Q13083|Q14084|Q8TDX0 hg19 CCDS4815.1 0.02 11.766201 CCCxGAG COVERED NOVEL MAPK14-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000357449.1 5 2.310612 KEEP 0 3 92 40 1345 GG 1 1 0 + 13 60 487 0 0 32.517848 246 60 8374 351 ENST00000229795.3 0.050193 1 ETV7 51513 __UNKNOWN__ __UNKNOWN__ 6 36334149 36334149 __UNKNOWN__ 3'UTR SNP C C A rs80326473 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:36334149C>A ENST00000340181.4 - 0 1540 ETV7_ENST00000339796.5_Intron|ETV7_ENST00000373738.1_3'UTR|ETV7_ENST00000373737.4_3'UTR|ETV7_ENST00000538992.1_3'UTR NM_001207037.1|NM_001207040.1|NM_016135.3 NP_001193966.1|NP_001193969.1|NP_057219.1 Q9Y603 ETV7_HUMAN ets variant 7 NA NA cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366) nucleus (GO:0005634) RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981) central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4) 10 GGTGCTCTATCGGTGCCTGGC 0.547 NA C||| 136 0.0271565 0.0348 0.0029 5008 , , NA 17238 0.0268 NA 0.0 False NA ,,, NA NA NA 2504 0.0624 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF116508 CCDS4819.1, CCDS56422.1, CCDS56423.1, CCDS56424.1, CCDS56425.1, CCDS75440.1, CCDS75441.1 6p21 2008-09-12 2008-09-12 ENSG00000010030 ENSG00000010030 51513 18160 protein-coding gene gene with protein product TEL2 oncogene 605255 ets variant gene 7 (TEL2 oncogene) NA 10828014, 11108721 Standard NM_016135 NM_016135 NA Approved TEL2, TEL-2 uc003omb.3 Q9Y603 OTTHUMG00000014594 ENST00000340181.4:c.*273G>T chr6.hg19:g.36334149C>A NA B3KVC2|B4DVB6|B4E1G4|Q5R3L3|Q5R3L4|Q9NZ65|Q9NZ66|Q9NZ68|Q9NZR8|Q9UNJ7|Q9Y5K4|Q9Y604 hg19 CCDS4819.1 0.02 4.789238 TATxGGT COVERED NOVEL ETV7-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000040341.1 1 3.310237 KEEP 0 0 0 11 353 CC 0.993072 0.993041 0 - 6 60 235 0 0 16.481479 95 60 3294 129 ENST00000340181.4 0.059406 0.999968 ETV7 51513 __UNKNOWN__ __UNKNOWN__ 6 36341165 36341165 __UNKNOWN__ Intron SNP G G A rs3213529 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:36341165G>A ENST00000340181.4 - 4 675 ETV7_ENST00000339796.5_Intron|ETV7_ENST00000373738.1_Intron|ETV7_ENST00000373737.4_Intron|ETV7_ENST00000538992.1_Intron NM_001207037.1|NM_001207040.1|NM_016135.3 NP_001193966.1|NP_001193969.1|NP_057219.1 Q9Y603 ETV7_HUMAN ets variant 7 NA NA cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366) nucleus (GO:0005634) RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981) central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4) 10 CCTTGAGGATGTCCTGCCCTC 0.652 NA G||| 555 0.110823 0.0953 0.0403 5008 , , NA 9745 0.2113 NA 0.0258 False NA ,,, NA NA NA 2504 0.1656 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF116508 CCDS4819.1, CCDS56422.1, CCDS56423.1, CCDS56424.1, CCDS56425.1, CCDS75440.1, CCDS75441.1 6p21 2008-09-12 2008-09-12 ENSG00000010030 ENSG00000010030 51513 18160 protein-coding gene gene with protein product TEL2 oncogene 605255 ets variant gene 7 (TEL2 oncogene) NA 10828014, 11108721 Standard NM_016135 NM_016135 NA Approved TEL2, TEL-2 uc003omb.3 Q9Y603 OTTHUMG00000014594 ENST00000340181.4:c.433+64C>T chr6.hg19:g.36341165G>A NA B3KVC2|B4DVB6|B4E1G4|Q5R3L3|Q5R3L4|Q9NZ65|Q9NZ66|Q9NZ68|Q9NZR8|Q9UNJ7|Q9Y5K4|Q9Y604 hg19 CCDS4819.1 0.02 -0.193014 GATxTCC COVERED NOVEL ETV7-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000040341.1 0 3.31088 KEEP 0 0 0 11 393 GG 0.993072 0.454585 0 - 3 60 107 0 0 8.326231 19 60 725 40 ENST00000340181.4 0.136364 0.457757 STK38 11329 __UNKNOWN__ __UNKNOWN__ 6 36463627 36463627 __UNKNOWN__ Silent SNP C C T rs2071809 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:36463627C>T ENST00000229812.7 - 14 1617 c.1332G>A c.(1330-1332)acG>acA p.T444T NM_007271.2 NP_009202.1 serine/threonine kinase 38 NA NA NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 AGCGCTTGTACGTGTAATTGA 0.463 NA C||| 586 0.117013 0.0083 0.013 5008 , , NA 18204 0.3631 NA 0.0378 False NA ,,, NA NA NA 2504 0.1656 NA NA NA Colon(180;997 3561 16158) NA 0 C 81,4325 69.2+/-107.0 2,77,2124 245 213 224 1332 -12.3 0.1 6 dbSNP_96 224 392,8208 125.3+/-183.9 14,364,3922 no coding-synonymous STK38 NM_007271.2 16,441,6046 TT,TC,CC 4.5581,1.8384,3.6368 444/466 36463627 473,12533 2203 4300 6503 SO:0001819 synonymous_variant CCDS4822.1 6p21 2006-10-06 ENSG00000112079 ENSG00000112079 11329 17847 protein-coding gene gene with protein product 606964 NA 7761441 Standard NM_007271 NM_007271 NA Approved NDR uc003omh.3 Q15208 OTTHUMG00000014598 ENST00000229812.7:c.1332G>A chr6.hg19:g.36463627C>T NA hg19 CCDS4822.1 0.02 28.198111 GTAxGTG COVERED NOVEL STK38-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040346.1 4 30.096734 KEEP 0 0 0 100 3456 CC 1 1 0 - 19 60 707 0 0 42.443206 636 60 22193 905 ENST00000229812.7 0.029008 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 36642402 36642402 __UNKNOWN__ IGR SNP C C T rs10947622 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:36642402C>T NA NA Y_RNA (1681 upstream) : CDKN1A (3185 downstream) NA NA NA TCATGAGGGCCGACATGGGAG 0.463 NA C||| 1434 0.286342 0.3858 0.3112 5008 , , NA 22129 0.4306 NA 0.1541 False NA ,,, NA NA NA 2504 0.1217 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.36642402C>T NA hg19 0.02 4.430362 GGCxGAC COVERED NOVEL 0 1 8.426507 KEEP 0 0 0 28 933 CC 0.999997 0.999997 0 7 60 243 0 0 15.54287 135 60 4524 185 0.049296 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 36642551 36642551 __UNKNOWN__ IGR SNP A A G rs12214686 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:36642551A>G NA NA Y_RNA (1830 upstream) : CDKN1A (3036 downstream) NA NA NA AGCCAGGAACAGGAAGACCAT 0.507 NA G||| 1433 0.286142 0.3858 0.3098 5008 , , NA 22390 0.4306 NA 0.1541 False NA ,,, NA NA NA 2504 0.1217 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.36642551A>G NA hg19 0.02 4.474011 AACxGGA COVERED NOVEL 0 1 11.134127 KEEP 0 0 0 37 1170 AA 1 0.999977 0 7 60 217 0 0 14.263559 96 60 3588 169 0.067961 0.999978 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 36642836 36642836 __UNKNOWN__ IGR SNP G G A rs10947623 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:36642836G>A NA NA Y_RNA (2115 upstream) : CDKN1A (2751 downstream) NA NA NA GCTGGCTGATGTTAACAACAT 0.468 NA G||| 1432 0.285942 0.3858 0.3098 5008 , , NA 22165 0.4296 NA 0.1541 False NA ,,, NA NA NA 2504 0.1217 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.36642836G>A NA hg19 0.02 1.71066 GATxTTA COVERED NOVEL 0 2 9.93242 KEEP 0 0 0 33 1168 GG 0.999998 0.99996 0 6 60 209 0 0 13.938591 93 60 3500 153 0.060606 0.999962 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 36642971 36642971 __UNKNOWN__ IGR SNP C C T rs12192827 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:36642971C>T NA NA Y_RNA (2250 upstream) : CDKN1A (2616 downstream) NA NA NA GGTTCCCTATCTATGGAAAGG 0.438 NA C||| 1431 0.285743 0.3858 0.3098 5008 , , NA 18117 0.4296 NA 0.1541 False NA ,,, NA NA NA 2504 0.1207 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.36642971C>T NA hg19 0.02 2.173452 TATxTAT COVERED NOVEL 0 0 6.320668 KEEP 0 0 0 21 744 CC 0.999869 0.996593 0 6 60 222 0 0 16.171954 64 60 2456 97 0.085714 0.996724 CDKN1A 1026 __UNKNOWN__ __UNKNOWN__ 6 36651971 36651971 __UNKNOWN__ Missense_Mutation SNP C C A rs1801270 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:36651971C>A ENST00000405375.1 + 2 328 c.93C>A c.(91-93)agC>agA p.S31R CDKN1A_ENST00000244741.5_Missense_Mutation_p.S31R|CDKN1A_ENST00000448526.2_Missense_Mutation_p.S65R|CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000373711.2_Missense_Mutation_p.S31R NM_001220778.1 NP_001207707.1 P38936 CDN1A_HUMAN cyclin-dependent kinase inhibitor 1A (p21, Cip1) 31 NA S -> R (in dbSNP:rs1801270). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:7655464, ECO:0000269|Ref.8}. cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to ionizing radiation (GO:0071479)|cellular senescence (GO:0090398)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of gene expression (GO:0010629)|negative regulation of phosphorylation (GO:0042326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ regeneration (GO:0031100)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of DNA biosynthetic process (GO:2000278)|regulation of protein import into nucleus, translocation (GO:0033158)|response to arsenic-containing substance (GO:0046685)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to organonitrogen compound (GO:0010243)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|stress-induced premature senescence (GO:0090400) cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCNA-p21 complex (GO:0070557) cyclin-dependent protein kinase activating kinase activity (GO:0019912)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5) 15 AGCAGCTGAGCCGCGACTGTG 0.647 NA C||| 1283 0.25619 0.3094 0.2493 5008 , , NA 18195 0.4881 NA 0.0666 False NA ,,, NA NA NA 2504 0.1452 NA NA NA NA 0 GRCh37 CM940226 CDKN1A M rs1801270 C ARG/SER,ARG/SER,ARG/SER,ARG/SER 1057,3349 376.1+/-321.9 130,797,1276 40 37 38 http://www.ncbi.nlm.nih.gov/sites/varvu?gene 93,93,93,93 -3.6 0.3 6 dbSNP_89 38 602,7998 157.3+/-211.0 21,560,3719 yes missense,missense,missense,missense CDKN1A NM_000389.4,NM_001220777.1,NM_001220778.1,NM_078467.2 110,110,110,110 151,1357,4995 AA,AC,CC 7.0,23.99,12.7557 benign,benign,benign,benign 31/165,31/165,31/165,31/165 36651971 1659,11347 2203 4300 6503 SO:0001583 missense U03106 CCDS4824.1 6p21.1 2009-01-21 ENSG00000124762 ENSG00000124762 1026 1784 protein-coding gene gene with protein product 116899 CDKN1 NA Standard NM_078467 NM_000389 NA Approved P21, CIP1, WAF1, SDI1, CAP20, p21CIP1, p21Cip1/Waf1 uc021yzb.1 P38936 OTTHUMG00000014603 ENST00000405375.1:c.93C>A chr6.hg19:g.36651971C>A ENSP00000384849:p.Ser31Arg NA Q14010|Q6FI05|Q9BUT4 hg19 CCDS4824.1 0.02 10.593228 GAGxCGC COVERED 539 0.2467948717948718 147 0.29878048780487804 80 0.22099447513812154 262 0.458041958041958 50 0.06596306068601583 C 0.006 -2.057394 0.00390 0.2399 0.07 ENSG00000124762 ENST00000448526;ENST00000244741;ENST00000405375;ENST00000373711 D;D;D;D 0.82433 -1.61;-1.61;-1.61;-1.61 5.06 -3.6 0.04570 . 0.965863 0.08530 N 0.932136 T 0.30759 0.0775 N 0.05012 -0.13 0.80722 P 0.0 B;B;B 0.02656 0.0;0.0;0.0 B;B;B 0.04013 0.001;0.001;0.001 T 0.07809 -1.0753 9 0.05351 T 0.99 -7.2889 5.3115 0.15833 0.2314:0.199:0.4908:0.0788 rs1801270;rs3176351;rs17849556;rs17851079;rs1801270 65;31;31 B4DQP9;P38936;Q96LE1 .;CDN1A_HUMAN;. R 65;31;31;31 ENSP00000409259:S65R;ENSP00000244741:S31R;ENSP00000384849:S31R;ENSP00000362815:S31R ENSP00000244741:S31R S + 3 2 CDKN1A 36759949 0.925000 0.31364 0.288000 0.24862 0.068000 0.16541 0.270000 0.18607 -0.519000 0.06444 -1.383000 0.01170 AGC NOVEL CDKN1A-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040354.1 1 67.974471 KEEP 0 0 0 226 7945 CC 1 1 0 + 23 60 787 0 0 55.425043 254 60 9350 643 ENST00000405375.1 0.083032 1 CDKN1A 1026 __UNKNOWN__ __UNKNOWN__ 6 36653597 36653597 __UNKNOWN__ 3'UTR SNP C C T rs1059234 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:36653597C>T ENST00000405375.1 + 0 750 CDKN1A_ENST00000244741.5_3'UTR|CDKN1A_ENST00000448526.2_3'UTR|CDKN1A_ENST00000373711.2_3'UTR NM_001220778.1 NP_001207707.1 P38936 CDN1A_HUMAN cyclin-dependent kinase inhibitor 1A (p21, Cip1) NA NA cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to ionizing radiation (GO:0071479)|cellular senescence (GO:0090398)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of gene expression (GO:0010629)|negative regulation of phosphorylation (GO:0042326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ regeneration (GO:0031100)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of DNA biosynthetic process (GO:2000278)|regulation of protein import into nucleus, translocation (GO:0033158)|response to arsenic-containing substance (GO:0046685)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to organonitrogen compound (GO:0010243)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|stress-induced premature senescence (GO:0090400) cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCNA-p21 complex (GO:0070557) cyclin-dependent protein kinase activating kinase activity (GO:0019912)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5) 15 AGGAAGCCTGCAGTCCTGGAA 0.502 NA C||| 1161 0.231829 0.23 0.2435 5008 , , NA 16327 0.4782 NA 0.0646 False NA ,,, NA NA NA 2504 0.1442 NA NA NA NA 0 GRCh37 CR952240 CDKN1A R rs1059234 C ,,, 760,3646 310.8+/-291.8 59,642,1502 77 85 82 ,,, -4.3 0 6 dbSNP_86 82 599,8001 157.2+/-210.9 21,557,3722 no utr-3,utr-3,utr-3,utr-3 CDKN1A NM_000389.4,NM_001220777.1,NM_001220778.1,NM_078467.2 ,,, 80,1199,5224 TT,TC,CC 6.9651,17.2492,10.449 ,,, ,,, 36653597 1359,11647 2203 4300 6503 SO:0001624 3_prime_UTR_variant U03106 CCDS4824.1 6p21.1 2009-01-21 ENSG00000124762 ENSG00000124762 1026 1784 protein-coding gene gene with protein product 116899 CDKN1 NA Standard NM_078467 NM_000389 NA Approved P21, CIP1, WAF1, SDI1, CAP20, p21CIP1, p21Cip1/Waf1 uc021yzb.1 P38936 OTTHUMG00000014603 ENST00000405375.1:c.*20C>T chr6.hg19:g.36653597C>T NA Q14010|Q6FI05|Q9BUT4 hg19 CCDS4824.1 0.02 21.386195 CTGxAGT COVERED NOVEL CDKN1A-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040354.1 3 81.256586 KEEP 0 0 0 270 9754 CC 1 1 0 + 26 60 906 0 0 57.889761 509 60 19674 1068 ENST00000405375.1 0.048598 1 CPNE5 57699 __UNKNOWN__ __UNKNOWN__ 6 36733070 36733070 __UNKNOWN__ Intron SNP A A G rs3752482 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:36733070A>G ENST00000244751.2 - 11 1404 NM_020939.1 NP_065990.1 Q9HCH3 CPNE5_HUMAN copine V NA NA extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025) central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 GGCTGTCCCCATCCCCACTCA 0.657 NA A||| 741 0.147963 0.1838 0.0951 5008 , , NA 17304 0.1915 NA 0.1491 False NA ,,, NA NA NA 2504 0.091 NA NA NA NA 0 A 740,3666 294.7+/-283.3 57,626,1520 103 66 79 -2.1 0 6 dbSNP_107 79 950,7650 203.4+/-246.4 47,856,3397 no intron CPNE5 NM_020939.1 104,1482,4917 GG,GA,AA 11.0465,16.7953,12.994 36733070 1690,11316 2203 4300 6503 SO:0001627 intron_variant H09181 CCDS4825.1 6p21.2 2010-05-28 ENSG00000124772 ENSG00000124772 57699 2318 protein-coding gene gene with protein product 604209 NA 9430674 Standard NM_020939 NM_020939 NA Approved CPN5, COPN5, KIAA1599 uc003omr.1 Q9HCH3 OTTHUMG00000014602 ENST00000244751.2:c.779+41T>C chr6.hg19:g.36733070A>G NA Q7Z6C8 hg19 CCDS4825.1 0.02 9.805004 CCCxTCC COVERED NOVEL CPNE5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040351.1 3 22.50516 KEEP 0 0 0 75 2309 AA 1 1 0 - 12 60 391 1 0 23.431874 266 60 9160 429 ENST00000244751.2 0.043165 1 PIM1 5292 __UNKNOWN__ __UNKNOWN__ 6 37140685 37140685 __UNKNOWN__ Intron SNP A A T rs76695753|rs377413008 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:37140685A>T ENST00000373509.5 + 5 980 PIM1_ENST00000468243.1_Intron NM_001243186.1|NM_002648.3 NP_001230115.1|NP_002639.1 P11309 PIM1_HUMAN Pim-1 proto-oncogene, serine/threonine kinase NA NA apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468) cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2) 30 OV - Ovarian serous cystadenocarcinoma(102;0.241) Adenosine monophosphate(DB00131) TTTTTTTTTTAAAAGAAAGAG 0.438 NA T BCL6 NHL OREG0017397 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) a||| 393 0.0784744 0.056 0.0259 5008 , , NA 16675 0.1776 NA 0.0398 False NA ,,, NA NA NA 2504 0.0838 NA NA NA Dom yes 6 6p21.2 5292 pim-1 oncogene L 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS4830.1 6p21 2014-06-25 2014-06-25 ENSG00000137193 ENSG00000137193 5292 8986 protein-coding gene gene with protein product 164960 pim-1 oncogene PIM NA Standard NM_002648 NA Approved uc003onk.3 P11309 OTTHUMG00000016426 ENST00000373509.5:c.608-87A>T chr6.hg19:g.37140685A>T 868 Q38RT9|Q5T7H7|Q96RG3 hg19 CCDS4830.1 0.02 4.150141 TTTxAAA COVERED NOVEL PIM1-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000043903.1 1 13.502945 KEEP 0 0 0 45 1249 AA 1 0.999998 0 + 6 60 194 0 0 12.035244 110 60 3573 181 ENST00000373509.5 0.051724 0.999998 MDGA1 266727 __UNKNOWN__ __UNKNOWN__ 6 37602816 37602816 __UNKNOWN__ 3'UTR SNP C C T rs45555536 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:37602816C>T ENST00000434837.3 - 0 6374 MDGA1_ENST00000297153.7_3'UTR NM_153487.3 NP_705691.1 Q8NFP4 MDGA1_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 1 NA NA brain development (GO:0007420)|cerebral cortex radially oriented cell migration (GO:0021799)|neuron migration (GO:0001764)|spinal cord association neuron differentiation (GO:0021527) anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615) central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 38 CCTACCCCAGCGAGGGCACAG 0.582 NA C||| 207 0.0413339 0.0847 0.0331 5008 , , NA 19139 0.0238 NA 0.0249 False NA ,,, NA NA NA 2504 0.0235 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF478693 CCDS47417.1 6p21 2013-01-29 ENSG00000112139 ENSG00000112139 266727 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 19267 protein-coding gene gene with protein product 609626 NA 15922729, 15019943 Standard NM_153487 NA Approved GPIM, MAMDC3 uc003onu.1 Q8NFP4 OTTHUMG00000014626 ENST00000434837.3:c.*2328G>A chr6.hg19:g.37602816C>T NA A6NHG0|Q8NBE3 hg19 CCDS47417.1 0.02 8.235852 CAGxGAG COVERED NOVEL MDGA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040419.3 1 6.019218 KEEP 0 0 0 20 689 CC 0.999863 0.999863 0 - 7 60 258 0 0 15.538905 223 60 7888 285 ENST00000434837.3 0.030435 1 GLO1 2739 __UNKNOWN__ __UNKNOWN__ 6 38644461 38644461 __UNKNOWN__ 3'UTR SNP C C A rs9470916 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:38644461C>A ENST00000373365.4 - 0 1251 GLO1_ENST00000470973.1_5'UTR NM_006708.2 NP_006699.2 Q04760 LGUL_HUMAN glyoxalase I NA NA carbohydrate metabolic process (GO:0005975)|glutathione metabolic process (GO:0006749)|methylglyoxal metabolic process (GO:0009438)|negative regulation of apoptotic process (GO:0043066)|osteoclast differentiation (GO:0030316)|regulation of transcription from RNA polymerase II promoter (GO:0006357) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062) lactoylglutathione lyase activity (GO:0004462)|zinc ion binding (GO:0008270) lung(2)|ovary(2)|prostate(1)|urinary_tract(1) 6 Glutathione(DB00143)|Indomethacin(DB00328) gtctggGTACCATATCATTTC 0.378 NA C||| 648 0.129393 0.171 0.0821 5008 , , NA 18889 0.2321 NA 0.006 False NA ,,, NA NA NA 2504 0.1278 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L07837 CCDS4837.1 6p21.3-p21.1 2012-10-02 ENSG00000124767 ENSG00000124767 2739 4.4.1.5 4323 protein-coding gene gene with protein product glyoxalase domain containing 1 138750 NA 8449929, 7684374 Standard NM_006708 NM_006708 NA Approved GLOD1 uc003ooc.3 Q04760 OTTHUMG00000014636 ENST00000373365.4:c.*610G>T chr6.hg19:g.38644461C>A NA B2R6P7|B4DDV0|P78375|Q59EL0|Q5TZW3|Q96FC0|Q96J41 hg19 CCDS4837.1 0.02 6.959319 TACxATA COVERED NOVEL GLO1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040438.2 1 17.736575 KEEP 0 0 0 59 2029 CC 1 1 0 - 7 60 261 0 0 16.959203 153 60 5807 276 ENST00000373365.4 0.04375 1 DNAH8 1769 __UNKNOWN__ __UNKNOWN__ 6 38729458 38729458 __UNKNOWN__ Intron SNP T T C rs2448401 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:38729458T>C ENST00000359357.3 + 9 1118 DNAH8_ENST00000449981.2_Intron|DNAH8_ENST00000441566.1_Intron Q96JB1 DYH8_HUMAN dynein, axonemal, heavy chain 8 NA NA cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018) axonemal dynein complex (GO:0005858)|microtubule (GO:0005874) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777) NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 ATAATTATTTTGTACCTATAT 0.294 NA C||| 1629 0.32528 0.3442 0.4006 5008 , , NA 12961 0.4484 NA 0.1998 False NA ,,, NA NA NA 2504 0.2485 NA NA NA NA 0 C 1347,3029 234,879,1075 28 29 29 1.5 0 6 dbSNP_100 29 1686,6876 164,1358,2759 no intron DNAH8 NM_001206927.1 398,2237,3834 CC,CT,TT 19.6917,30.7815,23.4426 38729458 3033,9905 2188 4281 6469 SO:0001627 intron_variant Z83806 CCDS75447.1 6p21.2 2012-04-19 2006-09-04 ENSG00000124721 ENSG00000124721 1769 Axonemal dyneins 2952 protein-coding gene gene with protein product 603337 dynein, axonemal, heavy polypeptide 8 NA 9373155 Standard NM_001206927 NM_001206927 NA Approved hdhc9 uc021yzh.1 Q96JB1 OTTHUMG00000016253 ENST00000359357.3:c.865-20T>C chr6.hg19:g.38729458T>C NA O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4 hg19 0.02 2.103292 TTTxGTA COVERED NOVEL DNAH8-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000043574.1 0 2.406153 KEEP 0 0 0 8 236 TT 0.99257 0.99157 0 + 9 60 330 0 0 25.181385 69 60 2449 93 ENST00000359357.3 0.115385 0.998993 DNAH8 1769 __UNKNOWN__ __UNKNOWN__ 6 38747770 38747770 __UNKNOWN__ Missense_Mutation SNP G G A rs1738254 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:38747770G>A ENST00000359357.3 + 13 1671 c.1417G>A c.(1417-1419)Gga>Aga p.G473R DNAH8_ENST00000449981.2_Missense_Mutation_p.G690R|DNAH8_ENST00000441566.1_Missense_Mutation_p.G473R Q96JB1 DYH8_HUMAN dynein, axonemal, heavy chain 8 473 NA G -> R (in dbSNP:rs1738254). cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018) axonemal dynein complex (GO:0005858)|microtubule (GO:0005874) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777) NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 TCCCTGTCTGGGATTAGAAAT 0.343 NA G||| 1019 0.203474 0.1619 0.1556 5008 , , NA 21291 0.4296 NA 0.0586 False NA ,,, NA NA NA 2504 0.2096 NA NA NA NA 0 G ARG/GLY 605,3801 265.3+/-266.6 46,513,1644 120 118 119 2068 1.3 0.2 6 dbSNP_89 119 362,8238 119.2+/-178.6 9,344,3947 yes missense DNAH8 NM_001206927.1 125 55,857,5591 AA,AG,GG 4.2093,13.7313,7.435 benign 690/4708 38747770 967,12039 2203 4300 6503 SO:0001583 missense Z83806 CCDS75447.1 6p21.2 2012-04-19 2006-09-04 ENSG00000124721 ENSG00000124721 1769 Axonemal dyneins 2952 protein-coding gene gene with protein product 603337 dynein, axonemal, heavy polypeptide 8 NA 9373155 Standard NM_001206927 NM_001206927 NA Approved hdhc9 uc021yzh.1 Q96JB1 OTTHUMG00000016253 ENST00000359357.3:c.1417G>A chr6.hg19:g.38747770G>A ENSP00000352312:p.Gly473Arg NA O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4 hg19 0.02 1.689983 CTGxGAT COVERED 412 0.18864468864468864 68 0.13821138211382114 43 0.11878453038674033 249 0.4353146853146853 52 0.06860158311345646 G 0.404 -0.917009 0.02415 0.137313 0.042093 ENSG00000124721 ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566 T;T;T 0.45276 0.9;0.9;0.9 5.48 1.31 0.21738 Dynein heavy chain, domain-1 (1); 0.861707 0.10329 N 0.687810 T 0.08403 0.0209 N 0.10760 0.04 0.58432 P 5.999999999950489E-6 B 0.02656 0.0 B 0.01281 0.0 T 0.32877 -0.9890 9 0.17369 T 0.5 . 11.406 0.49898 0.1315:0.4843:0.3842:0.0 rs1738254;rs59590227;rs1738254 473 Q96JB1 DYH8_HUMAN R 678;678;473;473 ENSP00000333363:G678R;ENSP00000352312:G473R;ENSP00000402294:G473R ENSP00000333363:G678R G + 1 0 DNAH8 38855748 0.700000 0.27796 0.157000 0.22605 0.042000 0.13812 0.220000 0.17660 0.329000 0.23460 -0.197000 0.12766 GGA NOVEL DNAH8-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000043574.1 1 3.611248 KEEP 0 0 0 12 401 GG 0.993634 0.993496 0 + 4 60 138 0 0 8.587786 87 60 3110 115 ENST00000359357.3 0.043956 0.999862 DNAH8 1769 __UNKNOWN__ __UNKNOWN__ 6 38749211 38749211 __UNKNOWN__ Intron SNP A A G rs138749107|rs1738251|rs372133301 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:38749211A>G ENST00000359357.3 + 14 1862 DNAH8_ENST00000449981.2_Intron|DNAH8_ENST00000441566.1_Intron Q96JB1 DYH8_HUMAN dynein, axonemal, heavy chain 8 NA NA cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018) axonemal dynein complex (GO:0005858)|microtubule (GO:0005874) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777) NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 CAAATATATCATATCCTATAA 0.303 NA G||| 1295 0.258586 0.3245 0.2046 5008 , , NA 14757 0.4405 NA 0.0686 False NA ,,, NA NA NA 2504 0.2157 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Z83806 CCDS75447.1 6p21.2 2012-04-19 2006-09-04 ENSG00000124721 ENSG00000124721 1769 Axonemal dyneins 2952 protein-coding gene gene with protein product 603337 dynein, axonemal, heavy polypeptide 8 NA 9373155 Standard NM_001206927 NM_001206927 NA Approved hdhc9 uc021yzh.1 Q96JB1 OTTHUMG00000016253 ENST00000359357.3:c.1608+62A>G chr6.hg19:g.38749211A>G NA O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4 hg19 0.02 4.523011 ATCxTAT COVERED NOVEL DNAH8-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000043574.1 0 2.406733 KEEP 0 0 0 8 235 AA 0.99257 0.992569 0 + 11 60 365 0 0 25.897077 109 60 3901 130 ENST00000359357.3 0.091667 0.999999 DNAH8 1769 __UNKNOWN__ __UNKNOWN__ 6 38759379 38759379 __UNKNOWN__ Missense_Mutation SNP G G A rs1678674 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:38759379G>A ENST00000359357.3 + 19 2433 c.2179G>A c.(2179-2181)Gcc>Acc p.A727T DNAH8_ENST00000449981.2_Missense_Mutation_p.A944T|DNAH8_ENST00000441566.1_Missense_Mutation_p.A727T Q96JB1 DYH8_HUMAN dynein, axonemal, heavy chain 8 727 NA A -> T (in dbSNP:rs1678674). cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018) axonemal dynein complex (GO:0005858)|microtubule (GO:0005874) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777) NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 GAAGGAGATAGCCAAAACTGT 0.348 NA G||| 608 0.121406 0.118 0.0735 5008 , , NA 19064 0.2827 NA 0.0348 False NA ,,, NA NA NA 2504 0.0828 NA NA NA NA 0 G THR/ALA 436,3970 211.8+/-231.9 21,394,1788 110 101 104 2830 4.8 1 6 dbSNP_89 104 249,8351 97.5+/-159.1 3,243,4054 yes missense DNAH8 NM_001206927.1 58 24,637,5842 AA,AG,GG 2.8953,9.8956,5.2668 benign 944/4708 38759379 685,12321 2203 4300 6503 SO:0001583 missense Z83806 CCDS75447.1 6p21.2 2012-04-19 2006-09-04 ENSG00000124721 ENSG00000124721 1769 Axonemal dyneins 2952 protein-coding gene gene with protein product 603337 dynein, axonemal, heavy polypeptide 8 NA 9373155 Standard NM_001206927 NM_001206927 NA Approved hdhc9 uc021yzh.1 Q96JB1 OTTHUMG00000016253 ENST00000359357.3:c.2179G>A chr6.hg19:g.38759379G>A ENSP00000352312:p.Ala727Thr NA O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4 hg19 0.02 12.354757 ATAxCCA COVERED 258 0.11813186813186813 49 0.09959349593495935 19 0.052486187845303865 158 0.2762237762237762 32 0.04221635883905013 G 14.28 2.488481 0.44249 0.098956 0.028953 ENSG00000124721 ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566 T;T;T 0.25912 1.81;1.8;1.77 5.65 4.78 0.61160 . 0.209202 0.40144 N 0.001172 T 0.10895 0.0266 L 0.50333 1.59 0.30962 P 0.72351 B 0.25563 0.129 B 0.26614 0.071 T 0.07888 -1.0749 9 0.38643 T 0.18 . 8.8622 0.35265 0.0776:0.0:0.7652:0.1572 rs1678674;rs3800355;rs52822483;rs60254452;rs1678674 727 Q96JB1 DYH8_HUMAN T 932;932;727;727 ENSP00000333363:A932T;ENSP00000352312:A727T;ENSP00000402294:A727T ENSP00000333363:A932T A + 1 0 DNAH8 38867357 1.000000 0.71417 0.982000 0.44146 0.995000 0.86356 2.309000 0.43699 1.380000 0.46344 0.557000 0.71058 GCC NOVEL DNAH8-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000043574.1 0 13.243477 KEEP 0 0 0 44 1603 GG 1 1 0 + 9 60 334 0 0 19.663512 330 60 12697 488 ENST00000359357.3 0.026549 1 DNAH8 1769 __UNKNOWN__ __UNKNOWN__ 6 38800209 38800209 __UNKNOWN__ Silent SNP T T C rs1678729 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:38800209T>C ENST00000359357.3 + 29 3903 c.3649T>C c.(3649-3651)Ttg>Ctg p.L1217L DNAH8_ENST00000449981.2_Silent_p.L1434L|DNAH8_ENST00000441566.1_Silent_p.L1217L Q96JB1 DYH8_HUMAN dynein, axonemal, heavy chain 8 1217 NA cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018) axonemal dynein complex (GO:0005858)|microtubule (GO:0005874) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777) NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 AGCATATGAATTGGTAATTTA 0.363 NA T||| 1365 0.272564 0.4259 0.2161 5008 , , NA 18954 0.2917 NA 0.1272 False NA ,,, NA NA NA 2504 0.2352 NA NA NA NA 0 T 1614,2792 497.2+/-363.8 299,1016,888 109 107 108 4300 -5.7 0 6 dbSNP_89 108 1175,7425 238.1+/-269.7 78,1019,3203 no coding-synonymous DNAH8 NM_001206927.1 377,2035,4091 CC,CT,TT 13.6628,36.6319,21.4439 1434/4708 38800209 2789,10217 2203 4300 6503 SO:0001819 synonymous_variant Z83806 CCDS75447.1 6p21.2 2012-04-19 2006-09-04 ENSG00000124721 ENSG00000124721 1769 Axonemal dyneins 2952 protein-coding gene gene with protein product 603337 dynein, axonemal, heavy polypeptide 8 NA 9373155 Standard NM_001206927 NM_001206927 NA Approved hdhc9 uc021yzh.1 Q96JB1 OTTHUMG00000016253 ENST00000359357.3:c.3649T>C chr6.hg19:g.38800209T>C NA O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4 hg19 0.02 7.144706 GAAxTGG COVERED NOVEL DNAH8-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000043574.1 1 7.523634 KEEP 0 0 0 25 816 TT 0.999931 0.999931 0 + 9 60 356 0 0 24.537401 164 60 5903 228 ENST00000359357.3 0.052023 1 DNAH8 1769 __UNKNOWN__ __UNKNOWN__ 6 38875752 38875752 __UNKNOWN__ Silent SNP A A G rs4452640 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:38875752A>G ENST00000359357.3 + 62 8972 c.8718A>G c.(8716-8718)cgA>cgG p.R2906R DNAH8_ENST00000449981.2_Silent_p.R3123R|DNAH8_ENST00000441566.1_Silent_p.R2870R Q96JB1 DYH8_HUMAN dynein, axonemal, heavy chain 8 2906 AAA 4. {ECO:0000250}. NA cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018) axonemal dynein complex (GO:0005858)|microtubule (GO:0005874) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777) NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 TGTTTGCACGAGATGAGATGG 0.413 NA A||| 596 0.11901 0.1059 0.1167 5008 , , NA 18078 0.2688 NA 0.0328 False NA ,,, NA NA NA 2504 0.0726 NA NA NA NA 0 A 448,3958 214.5+/-233.7 19,410,1774 119 113 115 9369 -4.7 0.8 6 dbSNP_111 115 203,8397 87.1+/-149.5 3,197,4100 no coding-synonymous DNAH8 NM_001206927.1 22,607,5874 GG,GA,AA 2.3605,10.168,5.0054 3123/4708 38875752 651,12355 2203 4300 6503 SO:0001819 synonymous_variant Z83806 CCDS75447.1 6p21.2 2012-04-19 2006-09-04 ENSG00000124721 ENSG00000124721 1769 Axonemal dyneins 2952 protein-coding gene gene with protein product 603337 dynein, axonemal, heavy polypeptide 8 NA 9373155 Standard NM_001206927 NM_001206927 NA Approved hdhc9 uc021yzh.1 Q96JB1 OTTHUMG00000016253 ENST00000359357.3:c.8718A>G chr6.hg19:g.38875752A>G NA O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4 hg19 0.02 9.171222 ACGxGAT COVERED NOVEL DNAH8-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000043574.1 1 8.123736 KEEP 0 0 0 27 868 AA 0.999988 0.999988 0 + 7 60 265 0 0 16.623162 196 60 7080 288 ENST00000359357.3 0.034483 1 GLP1R 2740 __UNKNOWN__ __UNKNOWN__ 6 39033593 39033593 __UNKNOWN__ Silent SNP G G A rs3765468 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:39033593G>A ENST00000373256.4 + 4 433 c.390G>A c.(388-390)aaG>aaA p.K130K NM_002062.3 NP_002053.3 P43220 GLP1R_HUMAN glucagon-like peptide 1 receptor 130 NA activation of adenylate cyclase activity (GO:0007190)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|learning or memory (GO:0007611)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|response to stress (GO:0006950)|small molecule metabolic process (GO:0044281) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) glucagon receptor activity (GO:0004967)|transmembrane signaling receptor activity (GO:0004888) breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 31 Exenatide(DB01276)|Glucagon recombinant(DB00040)|Liraglutide(DB06655) AGGAGTCCAAGCGAGGGGAAA 0.612 NA G||| 567 0.113219 0.028 0.0937 5008 , , NA 19240 0.2063 NA 0.0944 False NA ,,, NA NA NA 2504 0.1656 NA NA NA NA 0 G 144,4262 97.1+/-135.8 3,138,2062 47 45 46 390 2 1 6 dbSNP_107 46 663,7935 159.2+/-212.6 16,631,3652 no coding-synonymous GLP1R NM_002062.3 19,769,5714 AA,AG,GG 7.7111,3.2683,6.2058 130/464 39033593 807,12197 2203 4299 6502 SO:0001819 synonymous_variant CCDS4839.1 6p21 2012-08-10 ENSG00000112164 ENSG00000112164 2740 GPCR / Class B : Glucagon receptors 4324 protein-coding gene gene with protein product 138032 NA Standard NM_002062 NA Approved uc003ooj.4 P43220 OTTHUMG00000014638 ENST00000373256.4:c.390G>A chr6.hg19:g.39033593G>A NA Q2M229|Q99669 hg19 CCDS4839.1 0.02 7.736405 CAAxCGA COVERED NOVEL GLP1R-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040443.1 2 8.728536 KEEP 0 0 0 29 1044 GG 0.999997 0.999997 0 + 10 60 352 0 0 22.135978 219 60 8270 306 ENST00000373256.4 0.043668 1 KCNK5 8645 __UNKNOWN__ __UNKNOWN__ 6 39158172 39158172 __UNKNOWN__ 3'UTR SNP G G A rs2815096 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:39158172G>A ENST00000359534.3 - 0 2332 NM_003740.3 NP_003731.1 O95279 KCNK5_HUMAN potassium channel, subfamily K, member 5 NA NA excretion (GO:0007588)|potassium ion transport (GO:0006813) integral component of plasma membrane (GO:0005887) potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244) central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3) 19 GGATGCGGGCGGGCCCTGCTC 0.632 NA G||| 724 0.144569 0.0204 0.0749 5008 , , NA 15202 0.4871 NA 0.0229 False NA ,,, NA NA NA 2504 0.1339 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF084830 CCDS4841.1 6p21 2012-03-07 ENSG00000164626 ENSG00000164626 8645 Potassium channels, Voltage-gated ion channels / Potassium channels, Two-P 6280 protein-coding gene gene with protein product 603493 NA 9812978, 16382106 Standard NM_003740 XM_005249456 NA Approved K2p5.1, TASK-2 uc003oon.3 O95279 OTTHUMG00000014642 ENST00000359534.3:c.*494C>T chr6.hg19:g.39158172G>A NA B2RAQ6|B5TJL2|Q5VV76 hg19 CCDS4841.1 0.02 9.293806 GGCxGGC COVERED NOVEL KCNK5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040449.1 2 13.540168 KEEP 0 0 0 45 1499 GG 1 1 0 - 18 60 629 0 0 43.549555 228 60 7566 338 ENST00000359534.3 0.073171 1 KCNK17 89822 __UNKNOWN__ __UNKNOWN__ 6 39271656 39271656 __UNKNOWN__ Intron SNP G G A rs7451024 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:39271656G>A ENST00000373231.4 - 4 921 KCNK17_ENST00000453413.2_Intron NM_031460.3 NP_113648.2 Q96T54 KCNKH_HUMAN potassium channel, subfamily K, member 17 NA NA potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244) endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2) 14 CAGCAGGTGCGCCAGCTGCGG 0.607 NA OREG0017412 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) G||| 685 0.136781 0.0136 0.2248 5008 , , NA 17481 0.2302 NA 0.1501 False NA ,,, NA NA NA 2504 0.1309 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF358910 CCDS4842.1, CCDS47419.1 6p21 2012-03-07 ENSG00000124780 ENSG00000124780 89822 Potassium channels, Voltage-gated ion channels / Potassium channels, Two-P 14465 protein-coding gene gene with protein product 607370 NA 16382106 Standard NM_031460 NM_031460 NA Approved K2p17.1, TALK-2, TALK2, TASK4, TASK-4 uc003ooo.3 Q96T54 OTTHUMG00000014646 ENST00000373231.4:c.688+76C>T chr6.hg19:g.39271656G>A 884 E9PB46|Q5TCF4|Q8TAW4|Q9BXD1|Q9H592 hg19 CCDS4842.1 0.02 4.458171 TGCxCCA COVERED NOVEL KCNK17-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040453.2 1 6.319164 KEEP 0 0 0 21 686 GG 0.999869 0.999866 0 - 5 60 191 0 0 12.537715 111 60 3556 164 ENST00000373231.4 0.043103 0.999997 DAAM2 23500 __UNKNOWN__ __UNKNOWN__ 6 39859387 39859387 __UNKNOWN__ Intron SNP G G T rs7740344 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:39859387G>T ENST00000398904.2 + 19 2434 DAAM2_ENST00000274867.4_Intron|RP11-61I13.3_ENST00000430595.1_RNA|RP11-61I13.3_ENST00000420293.1_RNA|RP11-61I13.3_ENST00000606829.1_RNA|DAAM2_ENST00000538976.1_Intron Q86T65 DAAM2_HUMAN dishevelled associated activator of morphogenesis 2 NA NA actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368) NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5) 49 Ovarian(28;0.0355)|Colorectal(47;0.196) GATACCTCAAGATATGGTTCA 0.582 NA G||| 684 0.136581 0.1921 0.0994 5008 , , NA 15153 0.1825 NA 0.0626 False NA ,,, NA NA NA 2504 0.1166 NA NA NA NA 0 G , 669,3469 49,571,1449 26 28 27 , -0.3 0 6 dbSNP_116 27 410,8006 12,386,3810 no intron,intron DAAM2 NM_001201427.1,NM_015345.3 , 61,957,5259 TT,TG,GG 4.8717,16.1672,8.5949 , , 39859387 1079,11475 2069 4208 6277 SO:0001627 intron_variant AB002379 CCDS54999.1, CCDS56426.1 6p21.1 2008-07-30 ENSG00000146122 ENSG00000146122 23500 18143 protein-coding gene gene with protein product 606627 NA 11779461, 12632087 Standard NM_015345 NA Approved KIAA0381 uc003oow.3 Q86T65 OTTHUMG00000014653 ENST00000398904.2:c.2253-23G>T chr6.hg19:g.39859387G>T NA G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0 hg19 CCDS56426.1 0.02 4.038073 CAAxATA COVERED NOVEL DAAM2-003 KNOWN alternative_5_UTR|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000280648.1 0 8.727777 KEEP 0 0 0 29 1026 GG 0.999997 0.999986 0 + 5 60 178 0 0 11.418646 102 60 3848 174 ENST00000398904.2 0.046729 0.999989 MOCS1 4337 __UNKNOWN__ __UNKNOWN__ 6 39881120 39881120 __UNKNOWN__ Missense_Mutation SNP G G A rs35825585 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:39881120G>A ENST00000340692.5 - 6 701 c.698C>T c.(697-699)gCg>gTg p.A233V MOCS1_ENST00000373175.4_Missense_Mutation_p.A204V|MOCS1_ENST00000373188.2_Missense_Mutation_p.A233V|MOCS1_ENST00000373186.4_Missense_Mutation_p.A233V|MOCS1_ENST00000425303.2_Missense_Mutation_p.A233V|MOCS1_ENST00000432280.2_Missense_Mutation_p.A204V|MOCS1_ENST00000373195.3_Missense_Mutation_p.A146V|MOCS1_ENST00000308559.7_Missense_Mutation_p.A233V Q9NZB8 MOCS1_HUMAN molybdenum cofactor synthesis 1 233 Molybdenum cofactor biosynthesis protein A. NA A -> V (in Ref. 3; BAG51799/BAG62053). {ECO:0000305}. Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767) cytosol (GO:0005829)|molybdopterin synthase complex (GO:0019008)|nucleus (GO:0005634) 4 iron, 4 sulfur cluster binding (GO:0051539)|cyclic pyranopterin monophosphate synthase activity (GO:0061597)|GTP binding (GO:0005525)|metal ion binding (GO:0046872) central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 21 Ovarian(28;0.0355)|Colorectal(47;0.196) AGTCAAGGCCGCAAAGTCCAG 0.572 NA G||| 562 0.11222 0.1611 0.0677 5008 , , NA 19927 0.2401 NA 0.007 False NA ,,, NA NA NA 2504 0.0542 NA NA NA NSCLC(84;861 1413 23785 24908 42279)|Melanoma(182;611 2047 9114 11847 26639) NA 0 G VAL/ALA,VAL/ALA 573,3833 254.6+/-260.1 30,513,1660 109 95 100 698,698 3.5 1 6 dbSNP_126 100 60,8540 36.4+/-91.3 0,60,4240 yes missense,missense MOCS1 NM_001075098.3,NM_005943.5 64,64 30,573,5900 AA,AG,GG 0.6977,13.005,4.867 benign,benign 233/386,233/386 39881120 633,12373 2203 4300 6503 SO:0001583 missense AJ224328 CCDS4846.1, CCDS43460.1 6p21.2 2012-05-08 ENSG00000124615 ENSG00000124615 4337 7190 protein-coding gene gene with protein product 603707 NA 9731530, 10053004 Standard NM_005943 NM_001075098 NA Approved MOCOD uc003opb.3 Q9NZB8 OTTHUMG00000014656 ENST00000340692.5:c.698C>T chr6.hg19:g.39881120G>A ENSP00000344794:p.Ala233Val NA B3KPT7|B4DTP1|O14940|O14941|O75710|Q5J7W0|Q5TCE1|Q5TCE2|Q5TCE6|Q5TCE9|Q5TCF0|Q5TCF1|Q8N418|Q9NZB7|Q9UEM1 hg19 0.02 10.259121 GCCxCAA COVERED 225 0.10302197802197802 69 0.1402439024390244 15 0.04143646408839779 137 0.2395104895104895 4 0.005277044854881266 G 5.775 0.327440 0.10956 0.13005 0.006977 ENSG00000124615 ENST00000373186;ENST00000308559;ENST00000373175;ENST00000373188;ENST00000373195;ENST00000340692;ENST00000425303;ENST00000432280 T;T;T;T;T;T;T;T 0.38887 1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11 4.68 3.53 0.40419 Elongator protein 3/MiaB/NifB (1);Aldolase-type TIM barrel (1);Radical SAM (1); 0.064919 0.64402 N 0.000010 T 0.05410 0.0143 N 0.01761 -0.735 0.31185 P 0.701562 B;B;B;B;B 0.11235 0.002;0.004;0.002;0.002;0.001 B;B;B;B;B 0.09377 0.001;0.001;0.004;0.002;0.001 T 0.32561 -0.9902 8 . . . -16.3595 9.1987 0.37244 0.9105:0.0:0.0895:0.0 rs35825585 233;233;233;233;233 Q9NZB8-2;Q9NZB8-5;Q9NZB8;Q9NZB8-8;Q9NZB8-6 .;.;MOCS1_HUMAN;.;. V 233;233;204;233;146;233;233;204 ENSP00000362282:A233V;ENSP00000309843:A233V;ENSP00000362270:A204V;ENSP00000362284:A233V;ENSP00000362291:A146V;ENSP00000344794:A233V;ENSP00000416478:A233V;ENSP00000410809:A204V . A - 2 0 MOCS1 39989098 1.000000 0.71417 1.000000 0.80357 0.842000 0.47809 6.291000 0.72719 0.671000 0.31185 -0.302000 0.09304 GCG NOVEL MOCS1-005 KNOWN basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000040476.2 2 16.186475 KEEP 0 1 32 65 2225 GG 1 1 0 - 12 60 406 0 0 24.841283 270 60 9450 432 ENST00000340692.5 0.042553 1 MOCS1 4337 __UNKNOWN__ __UNKNOWN__ 6 39895410 39895410 __UNKNOWN__ Intron SNP T T C rs3008822 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:39895410T>C ENST00000340692.5 - 2 127 MOCS1_ENST00000373188.2_Intron|MOCS1_ENST00000373186.4_5'UTR|MOCS1_ENST00000373195.3_Intron|MOCS1_ENST00000308559.7_Intron Q9NZB8 MOCS1_HUMAN molybdenum cofactor synthesis 1 NA NA Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767) cytosol (GO:0005829)|molybdopterin synthase complex (GO:0019008)|nucleus (GO:0005634) 4 iron, 4 sulfur cluster binding (GO:0051539)|cyclic pyranopterin monophosphate synthase activity (GO:0061597)|GTP binding (GO:0005525)|metal ion binding (GO:0046872) central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 21 Ovarian(28;0.0355)|Colorectal(47;0.196) GTATTCAGCTTGGGGGTCGGG 0.527 NA C||| 3122 0.623403 0.6815 0.4769 5008 , , NA 16878 0.8135 NA 0.4493 False NA ,,, NA NA NA 2504 0.6319 NA NA NA NSCLC(84;861 1413 23785 24908 42279)|Melanoma(182;611 2047 9114 11847 26639) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ224328 CCDS4846.1, CCDS43460.1 6p21.2 2012-05-08 ENSG00000124615 ENSG00000124615 4337 7190 protein-coding gene gene with protein product 603707 NA 9731530, 10053004 Standard NM_005943 NM_001075098 NA Approved MOCOD uc003opb.3 Q9NZB8 OTTHUMG00000014656 ENST00000340692.5:c.124-216A>G chr6.hg19:g.39895410T>C NA B3KPT7|B4DTP1|O14940|O14941|O75710|Q5J7W0|Q5TCE1|Q5TCE2|Q5TCE6|Q5TCE9|Q5TCF0|Q5TCF1|Q8N418|Q9NZB7|Q9UEM1 hg19 0.02 8.475973 GCTxGGG COVERED NOVEL MOCS1-005 KNOWN basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000040476.2 0 15.344782 KEEP 0 0 0 51 1565 TT 1 1 0 - 9 60 313 0 0 18.825996 238 60 8682 369 ENST00000340692.5 0.036437 1 TREML4 285852 __UNKNOWN__ __UNKNOWN__ 6 41196492 41196492 __UNKNOWN__ Missense_Mutation SNP C C A rs141778511 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:41196492C>A ENST00000341495.2 + 2 208 c.104C>A c.(103-105)aCc>aAc p.T35N TREML4_ENST00000448827.2_Missense_Mutation_p.T35N NM_198153.2 NP_937796.1 Q6UXN2 TRML4_HUMAN triggering receptor expressed on myeloid cells-like 4 35 Ig-like V-type. NA extracellular region (GO:0005576) breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1) 8 Ovarian(28;0.0327)|Colorectal(47;0.196) CCAGGACAGACCCTCCTCCTG 0.552 NA C||| 33 0.00658946 0.0 0.0 5008 , , NA 17695 0.0308 NA 0.0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 89 87 88 NA NA 6 NA 41196492 2203 4300 6503 SO:0001583 missense AF534826 CCDS34446.1 6p21.1 2013-01-11 ENSG00000188056 ENSG00000188056 285852 Immunoglobulin superfamily / V-set domain containing 30807 protein-coding gene gene with protein product TREM like transcript 4 614664 NA 12645956 Standard NM_198153 NA Approved TLT4 uc003oqc.3 Q6UXN2 OTTHUMG00000016408 ENST00000341495.2:c.104C>A chr6.hg19:g.41196492C>A ENSP00000342570:p.Thr35Asn NA B7ZL92 hg19 CCDS34446.1 0.02 7.930303 AGAxCCT COVERED 11 0.005036630036630037 0 0.0 0 0.0 11 0.019230769230769232 0 0.0 . 13.74 2.326490 0.41197 . . ENSG00000188056 ENST00000341495;ENST00000445267;ENST00000448827 T;T 0.64085 -0.08;-0.08 3.84 0.962 0.19643 Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1); . . . . T 0.54398 0.1856 M 0.76328 2.33 0.09310 N 1 D 0.57571 0.98 P 0.56343 0.796 T 0.47407 -0.9120 9 0.72032 D 0.01 -14.0796 3.8542 0.08968 0.0:0.547:0.2131:0.2399 . 35 Q6UXN2 TRML4_HUMAN N 35 ENSP00000342570:T35N;ENSP00000418078:T35N ENSP00000342570:T35N T + 2 0 TREML4 41304470 0.000000 0.05858 0.001000 0.08648 0.027000 0.11550 -0.659000 0.05323 -0.008000 0.14320 0.591000 0.81541 ACC NOVEL TREML4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000043873.2 1 5.116524 KEEP 0 0 0 17 606 CC 0.999366 0.999366 0 + 7 60 249 0 0 14.950853 201 60 7264 252 ENST00000341495.2 0.033654 1 TREML4 285852 __UNKNOWN__ __UNKNOWN__ 6 41200245 41200245 __UNKNOWN__ Intron SNP A A G rs7746632 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:41200245A>G ENST00000341495.2 + 4 610 TREML4_ENST00000448827.2_Intron NM_198153.2 NP_937796.1 Q6UXN2 TRML4_HUMAN triggering receptor expressed on myeloid cells-like 4 NA NA extracellular region (GO:0005576) breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1) 8 Ovarian(28;0.0327)|Colorectal(47;0.196) acttggaggtaggggatggtt 0.333 NA G||| 1798 0.359026 0.3707 0.3473 5008 , , NA 14492 0.4048 NA 0.3579 False NA ,,, NA NA NA 2504 0.3057 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF534826 CCDS34446.1 6p21.1 2013-01-11 ENSG00000188056 ENSG00000188056 285852 Immunoglobulin superfamily / V-set domain containing 30807 protein-coding gene gene with protein product TREM like transcript 4 614664 NA 12645956 Standard NM_198153 NA Approved TLT4 uc003oqc.3 Q6UXN2 OTTHUMG00000016408 ENST00000341495.2:c.506+2385A>G chr6.hg19:g.41200245A>G NA B7ZL92 hg19 CCDS34446.1 0.02 3.864864 GGTxGGG COVERED NOVEL TREML4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000043873.2 1 3.008478 KEEP 0 0 0 10 300 AA 0.992708 0.992692 0 + 7 60 247 1 0 16.904465 97 60 3577 121 ENST00000341495.2 0.067308 0.999984 TREML4 285852 __UNKNOWN__ __UNKNOWN__ 6 41204329 41204329 __UNKNOWN__ 3'UTR SNP A A T rs9349186 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:41204329A>T ENST00000341495.2 + 0 716 TREML4_ENST00000448827.2_3'UTR NM_198153.2 NP_937796.1 Q6UXN2 TRML4_HUMAN triggering receptor expressed on myeloid cells-like 4 NA NA extracellular region (GO:0005576) breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1) 8 Ovarian(28;0.0327)|Colorectal(47;0.196) GAGTCCTGTTAGTGCTCCTGA 0.587 NA T||| 1714 0.342252 0.357 0.33 5008 , , NA 18721 0.3869 NA 0.332 False NA ,,, NA NA NA 2504 0.2955 NA NA NA NA 0 T 1496,2910 248,1000,955 96 73 81 -4.6 0 6 dbSNP_119 81 2893,5707 488,1917,1895 no utr-3 TREML4 NM_198153.2 736,2917,2850 TT,TA,AA 33.6395,33.9537,33.746 41204329 4389,8617 2203 4300 6503 SO:0001624 3_prime_UTR_variant AF534826 CCDS34446.1 6p21.1 2013-01-11 ENSG00000188056 ENSG00000188056 285852 Immunoglobulin superfamily / V-set domain containing 30807 protein-coding gene gene with protein product TREM like transcript 4 614664 NA 12645956 Standard NM_198153 NA Approved TLT4 uc003oqc.3 Q6UXN2 OTTHUMG00000016408 ENST00000341495.2:c.*9A>T chr6.hg19:g.41204329A>T NA B7ZL92 hg19 CCDS34446.1 0.02 4.326081 GTTxGTG COVERED NOVEL TREML4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000043873.2 0 5.716749 KEEP 0 0 0 19 580 AA 0.99986 0.999859 0 + 5 60 191 0 0 12.267336 126 60 4674 190 ENST00000341495.2 0.038168 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 41258844 41258844 __UNKNOWN__ IGR SNP C C T rs6458213 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:41258844C>T NA NA TREM1 (4387 upstream) : RNU6-643P (11359 downstream) NA NA NA ctgtacatgcctaaccctgtc 0.448 NA T||| 3239 0.646765 0.7141 0.4885 5008 , , NA 20097 0.746 NA 0.4831 False NA ,,, NA NA NA 2504 0.7342 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.41258844C>T NA hg19 0.02 -0.377252 TGCxTAA COVERED NOVEL 0 0 2.40794 KEEP 0 0 0 8 291 CC 0.99257 0.902315 0 5 60 193 0 0 14.973758 38 60 1438 63 0.116279 0.909069 NCR2 9436 __UNKNOWN__ __UNKNOWN__ 6 41303784 41303784 __UNKNOWN__ Intron SNP G G A rs9471575 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:41303784G>A ENST00000373089.5 + 2 140 NCR2_ENST00000373086.3_Intron|NCR2_ENST00000373083.4_Intron NM_004828.3 NP_004819.2 O95944 NCTR2_HUMAN natural cytotoxicity triggering receptor 2 NA NA cellular defense response (GO:0006968)|innate immune response (GO:0045087)|signal transduction (GO:0007165) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) transmembrane signaling receptor activity (GO:0004888) NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1) 14 Ovarian(28;0.0327)|Colorectal(47;0.196) GGCAGGTTGTGCGCGTGGCCT 0.602 NA G||| 805 0.160743 0.1906 0.0937 5008 , , NA 19217 0.3036 NA 0.0785 False NA ,,, NA NA NA 2504 0.1053 NA NA NA NA 0 G ,, 757,3649 301.3+/-286.8 61,635,1507 41 41 41 ,, 0 0 6 dbSNP_119 41 639,7961 162.6+/-215.3 32,575,3693 no intron,intron,intron NCR2 NM_001199509.1,NM_001199510.1,NM_004828.3 ,, 93,1210,5200 AA,AG,GG 7.4302,17.1811,10.7335 ,, ,, 41303784 1396,11610 2203 4300 6503 SO:0001627 intron_variant AJ225109 CCDS4855.1, CCDS56428.1, CCDS56429.1 6p21.1 2013-01-11 2002-11-13 2002-11-15 ENSG00000096264 ENSG00000096264 9436 CD molecules, Immunoglobulin superfamily / V-set domain containing 6732 protein-coding gene gene with protein product 604531 lymphocyte antigen 95 (activating NK-receptor; NK-p44) LY95 NA 10049942 Standard NM_004828 NA Approved NK-p44, CD336 uc003oqh.2 O95944 OTTHUMG00000014678 ENST00000373089.5:c.53-41G>A chr6.hg19:g.41303784G>A NA Q9H562|Q9H563|Q9H564|Q9UMT1|Q9UMT2 hg19 CCDS4855.1 0.02 5.865172 TGTxCGC COVERED NOVEL NCR2-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000040511.3 0 4.514759 KEEP 0 0 0 15 536 GG 0.99649 0.99649 0 + 15 60 500 0 0 35.104561 156 60 5721 205 ENST00000373089.5 0.087719 1 NCR2 9436 __UNKNOWN__ __UNKNOWN__ 6 41303805 41303805 __UNKNOWN__ Intron SNP G G A rs9471576 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:41303805G>A ENST00000373089.5 + 2 140 NCR2_ENST00000373086.3_Intron|NCR2_ENST00000373083.4_Intron NM_004828.3 NP_004819.2 O95944 NCTR2_HUMAN natural cytotoxicity triggering receptor 2 NA NA cellular defense response (GO:0006968)|innate immune response (GO:0045087)|signal transduction (GO:0007165) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) transmembrane signaling receptor activity (GO:0004888) NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1) 14 Ovarian(28;0.0327)|Colorectal(47;0.196) TGACCTATGCGTTACTTCATC 0.597 NA G||| 804 0.160543 0.1906 0.0937 5008 , , NA 20273 0.3036 NA 0.0775 False NA ,,, NA NA NA 2504 0.1053 NA NA NA NA 0 G ,, 758,3648 306.6+/-289.6 61,636,1506 52 52 52 http://www.ncbi.nlm.nih.gov/pubmed?term ,, -0.5 0 6 dbSNP_119 52 640,7960 163.8+/-216.2 32,576,3692 yes intron,intron,intron NCR2 NM_001199509.1,NM_001199510.1,NM_004828.3 ,, 93,1212,5198 AA,AG,GG http://www.ncbi.nlm.nih.gov/pubmed?term 7.4419,17.2038,10.7489 ,, ,, 41303805 1398,11608 2203 4300 6503 SO:0001627 intron_variant AJ225109 CCDS4855.1, CCDS56428.1, CCDS56429.1 6p21.1 2013-01-11 2002-11-13 2002-11-15 ENSG00000096264 ENSG00000096264 9436 CD molecules, Immunoglobulin superfamily / V-set domain containing 6732 protein-coding gene gene with protein product 604531 lymphocyte antigen 95 (activating NK-receptor; NK-p44) LY95 NA 10049942 Standard NM_004828 NA Approved NK-p44, CD336 uc003oqh.2 O95944 OTTHUMG00000014678 ENST00000373089.5:c.53-20G>A chr6.hg19:g.41303805G>A NA Q9H562|Q9H563|Q9H564|Q9UMT1|Q9UMT2 hg19 CCDS4855.1 0.02 6.91672 TGCxTTA COVERED NOVEL NCR2-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000040511.3 1 6.921376 KEEP 0 0 0 23 767 GG 0.999892 0.999892 0 + 18 60 670 0 0 49.357454 181 60 6184 251 ENST00000373089.5 0.090452 1 NCR2 9436 __UNKNOWN__ __UNKNOWN__ 6 41303995 41303995 __UNKNOWN__ Missense_Mutation SNP A A G rs9471577 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:41303995A>G ENST00000373089.5 + 2 311 c.223A>G c.(223-225)Atg>Gtg p.M75V NCR2_ENST00000373086.3_Missense_Mutation_p.M75V|NCR2_ENST00000373083.4_Missense_Mutation_p.M75V NM_004828.3 NP_004819.2 O95944 NCTR2_HUMAN natural cytotoxicity triggering receptor 2 75 Ig-like. NA M -> V (in dbSNP:rs9471577). cellular defense response (GO:0006968)|innate immune response (GO:0045087)|signal transduction (GO:0007165) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) transmembrane signaling receptor activity (GO:0004888) NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1) 14 Ovarian(28;0.0327)|Colorectal(47;0.196) GCCCAGGACGATGGCTTGGAC 0.542 NA G||| 883 0.176318 0.2436 0.1023 5008 , , NA 20277 0.3036 NA 0.0795 False NA ,,, NA NA NA 2504 0.1063 NA NA NA NA 0 G VAL/MET,VAL/MET,VAL/MET 920,3486 738.6+/-411.0 91,738,1374 72 70 70 223,223,223 -0.5 0 6 dbSNP_119 70 641,7959 790.6+/-407.6 32,577,3691 yes missense,missense,missense NCR2 NM_001199509.1,NM_001199510.1,NM_004828.3 21,21,21 123,1315,5065 GG,GA,AA 7.4535,20.8806,12.0022 benign,benign,benign 75/271,75/259,75/277 41303995 1561,11445 2203 4300 6503 SO:0001583 missense AJ225109 CCDS4855.1, CCDS56428.1, CCDS56429.1 6p21.1 2013-01-11 2002-11-13 2002-11-15 ENSG00000096264 ENSG00000096264 9436 CD molecules, Immunoglobulin superfamily / V-set domain containing 6732 protein-coding gene gene with protein product 604531 lymphocyte antigen 95 (activating NK-receptor; NK-p44) LY95 NA 10049942 Standard NM_004828 NA Approved NK-p44, CD336 uc003oqh.2 O95944 OTTHUMG00000014678 ENST00000373089.5:c.223A>G chr6.hg19:g.41303995A>G ENSP00000362181:p.Met75Val NA Q9H562|Q9H563|Q9H564|Q9UMT1|Q9UMT2 hg19 CCDS4855.1 0.02 9.457939 ACGxTGG COVERED 382 0.1749084249084249 91 0.18495934959349594 38 0.10497237569060773 193 0.3374125874125874 60 0.079155672823219 G 0.007 -1.941822 0.00479 0.208806 0.074535 ENSG00000096264 ENST00000373083;ENST00000373089;ENST00000373086 T;T;T 0.64618 -0.11;-0.11;-0.11 3.44 -0.532 0.11890 Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1); . . . . T 0.12561 0.0305 N 0.08118 0 0.80722 P 0.0 B;B;B 0.02656 0.0;0.0;0.0 B;B;B 0.01281 0.0;0.0;0.0 T 0.12553 -1.0543 8 0.24483 T 0.36 . 0.567 0.00689 0.1731:0.317:0.1769:0.333 rs9471577;rs9471577 75;75;75 O95944-3;O95944-2;O95944 .;.;NCTR2_HUMAN V 75 ENSP00000362175:M75V;ENSP00000362181:M75V;ENSP00000362178:M75V ENSP00000362175:M75V M + 1 0 NCR2 41411973 0.000000 0.05858 0.000000 0.03702 0.002000 0.02628 -1.408000 0.02485 -0.271000 0.09272 -0.762000 0.03455 ATG NOVEL NCR2-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000040511.3 2 6.920884 KEEP 0 0 0 23 733 AA 0.999892 0.999892 0 + 14 60 478 0 0 31.227082 236 60 8406 310 ENST00000373089.5 0.056 1 NCR2 9436 __UNKNOWN__ __UNKNOWN__ 6 41304241 41304241 __UNKNOWN__ Intron SNP C C T rs9471578 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:41304241C>T ENST00000373089.5 + 2 482 NCR2_ENST00000373086.3_Intron|NCR2_ENST00000373083.4_Intron NM_004828.3 NP_004819.2 O95944 NCTR2_HUMAN natural cytotoxicity triggering receptor 2 NA NA cellular defense response (GO:0006968)|innate immune response (GO:0045087)|signal transduction (GO:0007165) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) transmembrane signaling receptor activity (GO:0004888) NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1) 14 Ovarian(28;0.0327)|Colorectal(47;0.196) CCTGGTTTCCCAATCGTGGAA 0.587 NA T||| 883 0.176318 0.2436 0.1023 5008 , , NA 20452 0.3036 NA 0.0795 False NA ,,, NA NA NA 2504 0.1063 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ225109 CCDS4855.1, CCDS56428.1, CCDS56429.1 6p21.1 2013-01-11 2002-11-13 2002-11-15 ENSG00000096264 ENSG00000096264 9436 CD molecules, Immunoglobulin superfamily / V-set domain containing 6732 protein-coding gene gene with protein product 604531 lymphocyte antigen 95 (activating NK-receptor; NK-p44) LY95 NA 10049942 Standard NM_004828 NA Approved NK-p44, CD336 uc003oqh.2 O95944 OTTHUMG00000014678 ENST00000373089.5:c.394+75C>T chr6.hg19:g.41304241C>T NA Q9H562|Q9H563|Q9H564|Q9UMT1|Q9UMT2 hg19 CCDS4855.1 0.02 2.222983 TCCxAAT COVERED NOVEL NCR2-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000040511.3 2 2.407966 KEEP 0 0 0 8 293 CC 0.99257 0.963607 0 + 5 60 184 0 0 13.639129 47 60 1726 62 ENST00000373089.5 0.096154 0.97082 NCR2 9436 __UNKNOWN__ __UNKNOWN__ 6 41318424 41318424 __UNKNOWN__ Missense_Mutation SNP T T A rs2273961 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:41318424T>A ENST00000373089.5 + 5 741 c.653T>A c.(652-654)aTa>aAa p.I218K NCR2_ENST00000373086.3_Missense_Mutation_p.Y266N|NCR2_ENST00000373083.4_Missense_Mutation_p.Y254N NM_004828.3 NP_004819.2 O95944 NCTR2_HUMAN natural cytotoxicity triggering receptor 2 218 NA I -> K (in dbSNP:rs2273961). cellular defense response (GO:0006968)|innate immune response (GO:0045087)|signal transduction (GO:0007165) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) transmembrane signaling receptor activity (GO:0004888) NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1) 14 Ovarian(28;0.0327)|Colorectal(47;0.196) AGGGGGGACATATGGTGGAAA 0.542 NA T||| 668 0.133387 0.149 0.0677 5008 , , NA 18392 0.2887 NA 0.0338 False NA ,,, NA NA NA 2504 0.1012 NA NA NA NA 0 T ASN/TYR,ASN/TYR,LYS/ILE 536,3870 244.0+/-253.5 36,464,1703 123 121 122 796,760,653 -4.9 0 6 dbSNP_100 122 257,8343 100.3+/-161.8 3,251,4046 yes missense,missense,missense NCR2 NM_001199509.1,NM_001199510.1,NM_004828.3 143,143,102 39,715,5749 AA,AT,TT 2.9884,12.1652,6.0972 benign,benign,benign 266/271,254/259,218/277 41318424 793,12213 2203 4300 6503 SO:0001583 missense AJ225109 CCDS4855.1, CCDS56428.1, CCDS56429.1 6p21.1 2013-01-11 2002-11-13 2002-11-15 ENSG00000096264 ENSG00000096264 9436 CD molecules, Immunoglobulin superfamily / V-set domain containing 6732 protein-coding gene gene with protein product 604531 lymphocyte antigen 95 (activating NK-receptor; NK-p44) LY95 NA 10049942 Standard NM_004828 NA Approved NK-p44, CD336 uc003oqh.2 O95944 OTTHUMG00000014678 ENST00000373089.5:c.653T>A chr6.hg19:g.41318424T>A ENSP00000362181:p.Ile218Lys NA Q9H562|Q9H563|Q9H564|Q9UMT1|Q9UMT2 hg19 CCDS4855.1 0.02 15.061205 ACAxATG COVERED 297|297 0.13598901098901098|0.13598901098901098 67|67 0.13617886178861788|0.13617886178861788 24|24 0.06629834254143646|0.06629834254143646 180|180 0.3146853146853147|0.3146853146853147 26|26 0.03430079155672823|0.03430079155672823 T|T 6.379|6.379 0.437989|0.437989 0.12104|0.12104 0.121652|0.121652 0.029884|0.029884 ENSG00000096264|ENSG00000096264 ENST00000373089|ENST00000373083;ENST00000373086 T|T;T 0.15834|0.20069 2.39|2.21;2.1 2.47|2.47 -4.94|-4.94 0.03057|0.03057 .|. .|. .|. .|. .|. T|T 0.03651|0.03651 0.0104|0.0104 .|. .|. .|. 0.80722|0.80722 P|P 0.0|0.0 B|B;B 0.02656|0.13145 0.0|0.007;0.007 B|B;B 0.01281|0.17098 0.0|0.017;0.017 T|T 0.41360|0.41360 -0.9513|-0.9513 7|7 0.02654|0.87932 T|D 1|0 .|. 0.9866|0.9866 0.01447|0.01447 0.1579:0.3226:0.1589:0.3606|0.1579:0.3226:0.1589:0.3606 rs2273961;rs60568902|rs2273961;rs60568902 218|254;266 O95944|O95944-3;O95944-2 NCTR2_HUMAN|.;. K|N 218|254;266 ENSP00000362181:I218K|ENSP00000362175:Y254N;ENSP00000362178:Y266N ENSP00000362181:I218K|ENSP00000362175:Y254N I|Y +|+ 2|1 0|0 NCR2|NCR2 41426402|41426402 0.000000|0.000000 0.05858|0.05858 0.000000|0.000000 0.03702|0.03702 0.000000|0.000000 0.00434|0.00434 -1.660000|-1.660000 0.01974|0.01974 -1.539000|-1.539000 0.01732|0.01732 -1.229000|-1.229000 0.01577|0.01577 ATA|TAT NOVEL NCR2-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000040511.3 5 8.721253 KEEP 0 0 0 29 828 TT 0.999997 0.999997 0 + 27 60 918 1 0 62.69506 344 60 12009 440 ENST00000373089.5 0.072776 1 USP49 25862 __UNKNOWN__ __UNKNOWN__ 6 41762808 41762808 __UNKNOWN__ 3'UTR SNP C C G rs2282444 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:41762808C>G ENST00000394253.3 - 0 3859 Q70CQ1 UBP49_HUMAN ubiquitin specific peptidase 49 NA NA histone H2B conserved C-terminal lysine deubiquitination (GO:0035616)|mRNA splicing, via spliceosome (GO:0000398)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511) nucleus (GO:0005634) cysteine-type endopeptidase activity (GO:0004197)|histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2) 23 Ovarian(28;0.0919)|Colorectal(47;0.121) STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) CCTTCCACATCTACTCCCTTC 0.443 NA C||| 1051 0.209864 0.3018 0.1657 5008 , , NA 20134 0.1567 NA 0.2326 False NA ,,, NA NA NA 2504 0.1483 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ586139 CCDS4861.1, CCDS69111.1 6p12.1 2008-02-05 2005-08-08 ENSG00000164663 ENSG00000164663 25862 Ubiquitin-specific peptidases 20078 protein-coding gene gene with protein product ubiquitin specific protease 49 NA 14715245 Standard NM_018561 NM_018561 NA Approved MGC20741 uc003ori.3 Q70CQ1 OTTHUMG00000014688 ENST00000394253.3:c.*1463G>C chr6.hg19:g.41762808C>G NA Q5T3D9|Q5T3E0|Q96CK4 hg19 0.02 9.833647 CATxTAC COVERED NOVEL USP49-007 KNOWN not_organism_supported|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000316513.3 0 16.252961 KEEP 0 0 0 54 1922 CC 1 1 0 - 7 60 275 0 0 17.559491 200 60 7742 322 ENST00000394253.3 0.033816 1 USP49 25862 __UNKNOWN__ __UNKNOWN__ 6 41773735 41773735 __UNKNOWN__ Silent SNP G G A rs6926173 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:41773735G>A ENST00000394253.3 - 3 1316 c.987C>T c.(985-987)ggC>ggT p.G329G USP49_ENST00000373006.1_Silent_p.G329G|USP49_ENST00000373009.3_Silent_p.G329G|USP49_ENST00000297229.2_Silent_p.G329G|USP49_ENST00000373010.1_Silent_p.G329G Q70CQ1 UBP49_HUMAN ubiquitin specific peptidase 49 329 USP. NA histone H2B conserved C-terminal lysine deubiquitination (GO:0035616)|mRNA splicing, via spliceosome (GO:0000398)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511) nucleus (GO:0005634) cysteine-type endopeptidase activity (GO:0004197)|histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2) 23 Ovarian(28;0.0919)|Colorectal(47;0.121) STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) TCCAGCAGAAGCCCTCCCGCT 0.587 NA G||| 1045 0.208666 0.3003 0.1614 5008 , , NA 16774 0.1567 NA 0.2326 False NA ,,, NA NA NA 2504 0.1472 NA NA NA NA 0 G 1231,3175 405.5+/-333.5 165,901,1137 32 37 35 987 3.3 1 6 dbSNP_116 35 2044,6556 340.4+/-323.6 241,1562,2497 no coding-synonymous USP49 NM_018561.3 406,2463,3634 AA,AG,GG 23.7674,27.9392,25.1807 329/641 41773735 3275,9731 2203 4300 6503 SO:0001819 synonymous_variant AJ586139 CCDS4861.1, CCDS69111.1 6p12.1 2008-02-05 2005-08-08 ENSG00000164663 ENSG00000164663 25862 Ubiquitin-specific peptidases 20078 protein-coding gene gene with protein product ubiquitin specific protease 49 NA 14715245 Standard NM_018561 NM_018561 NA Approved MGC20741 uc003ori.3 Q70CQ1 OTTHUMG00000014688 ENST00000394253.3:c.987C>T chr6.hg19:g.41773735G>A NA Q5T3D9|Q5T3E0|Q96CK4 hg19 0.02 15.008973 GAAxCCC COVERED NOVEL USP49-007 KNOWN not_organism_supported|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000316513.3 0 13.845746 KEEP 0 0 0 46 1686 GG 1 1 0 - 13 60 432 0 0 24.082719 421 60 15515 546 ENST00000394253.3 0.029954 1 BYSL 705 __UNKNOWN__ __UNKNOWN__ 6 41895150 41895150 __UNKNOWN__ Missense_Mutation SNP G G A rs2296916 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:41895150G>A ENST00000230340.4 + 2 682 c.307G>A c.(307-309)Gag>Aag p.E103K NM_004053.3 NP_004044.3 Q13895 BYST_HUMAN bystin-like 103 NA E -> K (in dbSNP:rs2296916). cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|female pregnancy (GO:0007565)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|trophectodermal cell differentiation (GO:0001829) apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634) poly(A) RNA binding (GO:0044822) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1) 8 Colorectal(47;0.121) STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) TGACGAGGACGAGGAGTGGCC 0.542 NA G||| 380 0.0758786 0.0038 0.0389 5008 , , NA 19438 0.1478 NA 0.0974 False NA ,,, NA NA NA 2504 0.1033 NA NA NA NA 0 G LYS/GLU 76,4330 66.4+/-103.9 0,76,2127 124 113 116 307 4.6 1 6 dbSNP_100 116 933,7667 206.2+/-248.4 41,851,3408 yes missense BYSL NM_004053.3 56 41,927,5535 AA,AG,GG 10.8488,1.7249,7.758 possibly-damaging 103/438 41895150 1009,11997 2203 4300 6503 SO:0001583 missense L36720 CCDS34450.1 6p21.1 2008-08-29 ENSG00000112578 ENSG00000112578 705 1157 protein-coding gene gene with protein product 603871 NA 9925933, 17381424 Standard NM_004053 NA Approved uc003orl.3 Q13895 OTTHUMG00000014687 ENST00000230340.4:c.307G>A chr6.hg19:g.41895150G>A ENSP00000230340:p.Glu103Lys NA Q6P5W4|Q86W44|Q96IP8 hg19 CCDS34450.1 0.02 8.601743 GACxAGG COVERED 181 0.08287545787545787 4 0.008130081300813009 13 0.03591160220994475 84 0.14685314685314685 80 0.10554089709762533 G 34 5.361981 0.95877 0.017249 0.108488 ENSG00000112578 ENST00000230340 T 0.21932 1.98 4.62 4.62 0.57501 . 0.101901 0.64402 D 0.000003 T 0.14356 0.0347 M 0.74647 2.275 0.09310 P 0.99999999894696 P 0.45348 0.856 B 0.33295 0.161 T 0.24404 -1.0161 9 0.66056 D 0.02 -3.7104 17.0716 0.86576 0.0:0.0:1.0:0.0 rs2296916;rs52799438;rs59557183;rs2296916 103 Q13895 BYST_HUMAN K 103 ENSP00000230340:E103K ENSP00000230340:E103K E + 1 0 BYSL 42003128 1.000000 0.71417 0.975000 0.42487 0.880000 0.50808 9.177000 0.94849 2.124000 0.65301 0.643000 0.83706 GAG NOVEL BYSL-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040535.2 1 11.972718 KEEP 0 1 32 51 1710 GG 1 1 0 + 8 60 296 0 0 18.647553 203 60 7146 337 ENST00000230340.4 0.037915 1 CCND3 896 __UNKNOWN__ __UNKNOWN__ 6 42016319 42016319 __UNKNOWN__ 5'UTR SNP G G A rs11552783 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:42016319G>A ENST00000372988.4 - 0 387 CCND3_ENST00000511686.1_5'UTR|CCND3_ENST00000510503.1_5'UTR|CCND3_ENST00000415497.2_5'UTR|CCND3_ENST00000511642.1_Intron NM_001136017.2 NP_001129489.1 P30281 CCND3_HUMAN cyclin D3 NA NA cell cycle (GO:0007049)|cell division (GO:0051301)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of protein phosphorylation (GO:0001934)|signal transduction (GO:0007165)|T cell proliferation (GO:0042098) cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634) cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase binding (GO:0019901) endometrium(2)|haematopoietic_and_lymphoid_tissue(13)|kidney(1)|large_intestine(1)|lung(2)|skin(1) 20 Colorectal(47;0.121) Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) CTGCCTTTGGGGAGTGGGGGT 0.697 NA T IGH@ MM G||| 853 0.170327 0.0401 0.2147 5008 , , NA 12661 0.2202 NA 0.1829 False NA ,,, NA NA NA 2504 0.2505 NA NA NA Dom yes 6 6p21 896 cyclin D3 L 0 G , 105,1643 6,93,775 12 12 12 , 1.8 0 6 dbSNP_120 12 724,3254 79,566,1344 no utr-5,utr-5 CCND3 NM_001136017.2,NM_001136126.1 , 85,659,2119 AA,AG,GG 18.2001,6.0069,14.4778 , , 42016319 829,4897 874 1989 2863 SO:0001623 5_prime_UTR_variant CCDS4863.1, CCDS47425.1, CCDS47426.1, CCDS47427.1, CCDS75452.1 6p21 2008-08-26 ENSG00000112576 ENSG00000112576 896 1585 protein-coding gene gene with protein product 123834 NA 1386335 Standard NM_001760 NM_001136125 NA Approved uc003orn.3 P30281 OTTHUMG00000014690 ENST00000372988.4:c.-126C>T chr6.hg19:g.42016319G>A NA B2RD63|B3KQ22|E9PAS4|E9PB36|Q5T8J0|Q6FG62|Q96F49 hg19 CCDS47426.1 0.02 15.07715 TGGxGAG COVERED NOVEL CCND3-006 KNOWN alternative_5_UTR|basic|CCDS protein_coding NA protein_coding OTTHUMT00000372249.1 1 68.290305 KEEP 0 1 28 237 8294 GG 1 1 0 - 12 60 444 0 0 26.852341 379 60 13832 773 ENST00000372988.4 0.030691 1 UBR2 23304 __UNKNOWN__ __UNKNOWN__ 6 42658949 42658949 __UNKNOWN__ 3'UTR SNP T T A rs10058 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:42658949T>A ENST00000372899.1 + 0 5564 UBR2_ENST00000372901.1_3'UTR|UBR2_ENST00000372883.3_3'UTR NM_015255.2 NP_056070.1 Q8IWV8 UBR2_HUMAN ubiquitin protein ligase E3 component n-recognin 2 NA NA cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511) chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151) leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5) 64 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196) TGGATTTTTTTAACCCAGTTG 0.343 NA T||| 862 0.172125 0.2708 0.1902 5008 , , NA 18534 0.1349 NA 0.0865 False NA ,,, NA NA NA 2504 0.1524 NA NA NA NA 0 T 960,3446 109,742,1352 50 53 52 5.9 0.5 6 dbSNP_52 52 837,7761 50,737,3512 no utr-3 UBR2 NM_015255.2 159,1479,4864 AA,AT,TT 9.7348,21.7885,13.8188 42658949 1797,11207 2203 4299 6502 SO:0001624 3_prime_UTR_variant BC024217 CCDS4870.1, CCDS55001.1 6p21.1 2008-06-23 2005-01-10 2005-01-12 ENSG00000024048 ENSG00000024048 23304 Ubiquitin protein ligase E3 component n-recognins 21289 protein-coding gene gene with protein product 609134 chromosome 6 open reading frame 133 C6orf133 NA Standard NM_015255 NM_015255 NA Approved bA49A4.1, dJ392M17.3, KIAA0349 uc011dur.2 Q8IWV8 OTTHUMG00000014703 ENST00000372899.1:c.*38T>A chr6.hg19:g.42658949T>A NA O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0 hg19 CCDS4870.1 0.02 19.154037 TTTxAAC COVERED NOVEL UBR2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000040558.2 2 22.863379 KEEP 0 0 0 76 2383 TT 1 1 0 + 19 60 687 0 0 43.21336 452 60 16223 650 ENST00000372899.1 0.04034 1 RPL7L1 285855 __UNKNOWN__ __UNKNOWN__ 6 42857353 42857353 __UNKNOWN__ 3'UTR SNP A A G rs1064123 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:42857353A>G ENST00000493763.1 + 0 4195 RPL7L1_ENST00000304734.5_3'UTR NM_198486.2 NP_940888.2 Q6DKI1 RL7L_HUMAN ribosomal protein L7-like 1 NA NA ribosome (GO:0005840) poly(A) RNA binding (GO:0044822) breast(1)|endometrium(1)|large_intestine(1)|lung(3) 6 Colorectal(47;0.196) Colorectal(64;0.00237)|all cancers(41;0.00288)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.088) AGTTGTGACTATGGAAGCCCA 0.358 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS4873.1 6p21.1 2011-01-14 ENSG00000146223 ENSG00000146223 285855 L ribosomal proteins 21370 protein-coding gene gene with protein product NA Standard XM_209769 NM_198486 NA Approved dJ475N16.4 uc003osq.1 Q6DKI1 OTTHUMG00000014710 ENST00000493763.1:c.*3151A>G chr6.hg19:g.42857353A>G NA A8K7D4|B7Z652|Q5TFZ5|Q6PEK3 hg19 CCDS4873.1 0.02 13.672418 ACTxTGG COVERED NOVEL RPL7L1-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000314417.1 4 5.771117 KEEP 11 3 102 55 1708 AA 1 1 0 + 25 45 925 0 0 66.553145 289 60 10321 418 ENST00000493763.1 0.079618 1 PPP2R5D 5528 __UNKNOWN__ __UNKNOWN__ 6 42976232 42976232 __UNKNOWN__ Intron SNP T T G rs6458318 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:42976232T>G ENST00000485511.1 + 9 1205 PPP2R5D_ENST00000472118.1_Intron|PPP2R5D_ENST00000461010.1_Intron|PPP2R5D_ENST00000394110.3_Intron NM_001270476.1|NM_006245.3 NP_001257405.1|NP_006236.1 Q14738 2A5D_HUMAN protein phosphatase 2, regulatory subunit B', delta NA NA carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of catalytic activity (GO:0050790)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666) cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159) protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722) NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 25 Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) CCTTCCTCCTTATAATGTCCA 0.522 NA G||| 1583 0.316094 0.6127 0.2363 5008 , , NA 19357 0.2123 NA 0.1223 False NA ,,, NA NA NA 2504 0.2781 NA NA NA Melanoma(63;587 1613 29742 31770) NA 0 G ,, 2454,1952 551.4+/-378.3 683,1088,432 61 59 60 ,, -0.6 0 6 dbSNP_116 60 1105,7495 767.5+/-407.6 62,981,3257 no intron,intron,intron PPP2R5D NM_006245.2,NM_180976.1,NM_180977.1 ,, 745,2069,3689 GG,GT,TT 12.8488,44.3032,27.3643 ,, ,, 42976232 3559,9447 2203 4300 6503 SO:0001627 intron_variant L76702 CCDS4878.1, CCDS43464.1, CCDS55002.1 6p21.1 2010-06-18 2010-04-14 ENSG00000112640 ENSG00000112640 5528 Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits 9312 protein-coding gene gene with protein product 601646 protein phosphatase 2, regulatory subunit B (B56), delta isoform, protein phosphatase 2, regulatory subunit B', delta isoform NA 7592815 Standard NM_006245 NM_006245 NA Approved B56D uc003oth.4 Q14738 OTTHUMG00000014716 ENST00000485511.1:c.1026+19T>G chr6.hg19:g.42976232T>G NA A8K3I9|B5BUA6|O00494|O00696|Q15171|Q5TC39 hg19 CCDS4878.1 0.02 6.738927 CCTxATA COVERED NOVEL PPP2R5D-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000040573.3 3 10.227406 KEEP 0 0 0 34 1017 TT 0.999998 0.999998 0 + 6 60 228 0 0 14.708252 145 60 5139 198 ENST00000485511.1 0.039735 1 MEA1 4201 __UNKNOWN__ __UNKNOWN__ 6 42980458 42980458 __UNKNOWN__ Intron SNP C C T rs60622781 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:42980458C>T ENST00000244711.3 - 4 561 NM_014623.2 NP_055438.1 Q16626 MEA1_HUMAN male-enhanced antigen 1 NA NA cell differentiation (GO:0030154)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283) cytoplasm (GO:0005737) central_nervous_system(1)|large_intestine(3)|lung(1)|skin(1) 6 Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) CTGCTAGGGTCACCAAATCCA 0.488 NA C||| 865 0.172724 0.2315 0.1657 5008 , , NA 19394 0.1776 NA 0.0696 False NA ,,, NA NA NA 2504 0.1994 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS4879.1 6p21.3-p21.1 2008-08-15 2005-06-02 2005-06-02 ENSG00000124733 ENSG00000124733 4201 6986 protein-coding gene gene with protein product 143170 male-enhanced antigen MEA NA 2813404, 12444059 Standard NM_014623 NA Approved uc003otk.3 Q16626 OTTHUMG00000014717 ENST00000244711.3:c.407-99G>A chr6.hg19:g.42980458C>T NA Q5TC36|Q9BV01 hg19 CCDS4879.1 0.02 4.000391 GGTxACC COVERED NOVEL MEA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040574.2 1 14.445852 KEEP 0 0 0 48 1668 CC 1 1 0 - 5 60 185 0 0 11.618149 129 60 4888 221 ENST00000244711.3 0.037313 1 KLHDC3 116138 __UNKNOWN__ __UNKNOWN__ 6 42985973 42985973 __UNKNOWN__ Intron SNP T T C rs111704814|rs6926418 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:42985973T>C ENST00000326974.4 + 5 714 KLHDC3_ENST00000332245.8_Intron|KLHDC3_ENST00000244670.8_Intron NM_057161.3 NP_476502.1 Q9BQ90 KLDC3_HUMAN kelch domain containing 3 NA NA activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|reciprocal meiotic recombination (GO:0007131) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790) chromatin binding (GO:0003682) cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 9 Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) TTTCTTTTTTTTCCCAAATCC 0.473 NA C||| 1645 0.328474 0.6581 0.2392 5008 , , NA 20412 0.2123 NA 0.1223 False NA ,,, NA NA NA 2504 0.2781 NA NA NA NA 0 C , 2595,1811 502.5+/-365.3 773,1049,381 100 87 92 , 1.3 0 6 dbSNP_116 92 1104,7496 760.4+/-407.6 64,976,3260 no intron,intron KLHDC3 NM_001242872.1,NM_057161.3 , 837,2025,3641 CC,CT,TT 12.8372,41.103,28.4407 , , 42985973 3699,9307 2203 4300 6503 SO:0001627 intron_variant AB055925 CCDS4880.1 6p21.1 2003-06-12 ENSG00000124702 ENSG00000124702 116138 20704 protein-coding gene gene with protein product 611248 NA 12444059, 12606021 Standard NM_057161 NM_057161 NA Approved PEAS, hPeas, dJ20C7.3 uc003otl.3 Q9BQ90 OTTHUMG00000014714 ENST00000326974.4:c.519+19T>C chr6.hg19:g.42985973T>C NA A8K2W9 hg19 CCDS4880.1 0.02 18.884642 TTTxTCC COVERED NOVEL KLHDC3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040570.1 2 43.028837 KEEP 0 0 0 143 4506 TT 1 1 0 + 20 60 747 0 0 49.046256 414 60 14822 698 ENST00000326974.4 0.046083 1 RRP36 88745 __UNKNOWN__ __UNKNOWN__ 6 42992808 42992808 __UNKNOWN__ Silent SNP T T C rs3749904 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:42992808T>C ENST00000244496.5 + 2 226 c.216T>C c.(214-216)aaT>aaC p.N72N NM_033112.2 NP_149103.1 Q96EU6 RRP36_HUMAN ribosomal RNA processing 36 homolog (S. cerevisiae) 72 NA ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364) nucleolus (GO:0005730)|nucleus (GO:0005634) poly(A) RNA binding (GO:0044822) NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1) 11 TAGCTGGAAATAGTCCTAAGA 0.453 NA C||| 1724 0.344249 0.7133 0.2421 5008 , , NA 22411 0.2123 NA 0.1223 False NA ,,, NA NA NA 2504 0.2822 NA NA NA NA 0 C 2782,1624 499.5+/-364.4 882,1018,303 135 118 124 216 2 0 6 dbSNP_107 124 1118,7482 767.9+/-407.6 65,988,3247 no coding-synonymous RRP36 NM_033112.2 947,2006,3550 CC,CT,TT 13.0,36.8588,29.9862 72/260 42992808 3900,9106 2203 4300 6503 SO:0001819 synonymous_variant BC011933 CCDS34453.1 6p21.1 2010-07-06 2010-07-06 2010-07-06 ENSG00000124541 ENSG00000124541 88745 21374 protein-coding gene gene with protein product 613475 chromosome 6 open reading frame 153 C6orf153 NA 20038530 Standard NM_033112 NM_033112 NA Approved dJ20C7.4 uc003otp.1 Q96EU6 OTTHUMG00000014715 ENST00000244496.5:c.216T>C chr6.hg19:g.42992808T>C NA Q9BRF6|Q9P0C8 hg19 CCDS34453.1 0.02 11.566363 AAAxAGT COVERED NOVEL RRP36-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040572.1 2 26.476314 KEEP 0 0 0 88 2700 TT 1 1 0 + 9 60 335 0 0 20.838634 250 60 9146 435 ENST00000244496.5 0.034749 1 RRP36 88745 __UNKNOWN__ __UNKNOWN__ 6 42992825 42992825 __UNKNOWN__ Missense_Mutation SNP C C G rs3749903 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:42992825C>G ENST00000244496.5 + 2 243 c.233C>G c.(232-234)gCt>gGt p.A78G NM_033112.2 NP_149103.1 Q96EU6 RRP36_HUMAN ribosomal RNA processing 36 homolog (S. cerevisiae) 78 NA A -> G (in dbSNP:rs3749903). ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364) nucleolus (GO:0005730)|nucleus (GO:0005634) poly(A) RNA binding (GO:0044822) NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1) 11 AAGAAACAAGCTTCTAGACCA 0.433 NA G||| 1721 0.34365 0.7133 0.2421 5008 , , NA 22689 0.2123 NA 0.1223 False NA ,,, NA NA NA 2504 0.2791 NA NA NA NA 0 G GLY/ALA 2782,1624 499.5+/-364.4 882,1018,303 132 118 122 233 -2.4 0 6 dbSNP_107 122 1118,7482 767.9+/-407.6 65,988,3247 yes missense RRP36 NM_033112.2 60 947,2006,3550 GG,GC,CC 13.0,36.8588,29.9862 benign 78/260 42992825 3900,9106 2203 4300 6503 SO:0001583 missense BC011933 CCDS34453.1 6p21.1 2010-07-06 2010-07-06 2010-07-06 ENSG00000124541 ENSG00000124541 88745 21374 protein-coding gene gene with protein product 613475 chromosome 6 open reading frame 153 C6orf153 NA 20038530 Standard NM_033112 NM_033112 NA Approved dJ20C7.4 uc003otp.1 Q96EU6 OTTHUMG00000014715 ENST00000244496.5:c.233C>G chr6.hg19:g.42992825C>G ENSP00000244496:p.Ala78Gly NA Q9BRF6|Q9P0C8 hg19 CCDS34453.1 0.02 10.800744 AAGxTTC COVERED 642 0.29395604395604397 343 0.6971544715447154 80 0.22099447513812154 121 0.21153846153846154 98 0.12928759894459102 G 0.013 -1.630591 0.00813 0.631412 0.13 ENSG00000124541 ENST00000244496 T 0.48201 0.82 4.82 -2.4 0.06583 . 1.291000 0.04995 N 0.468096 T 0.07052 0.0179 N 0.08118 0 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.11991 -1.0565 9 0.20046 T 0.44 . 1.8773 0.03221 0.2792:0.3881:0.201:0.1316 rs3749903;rs52827172;rs58983673;rs3749903 78 Q96EU6 RRP36_HUMAN G 78 ENSP00000244496:A78G ENSP00000244496:A78G A + 2 0 RRP36 43100803 0.000000 0.05858 0.000000 0.03702 0.003000 0.03518 0.006000 0.13152 -0.500000 0.06614 -1.130000 0.01982 GCT NOVEL RRP36-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040572.1 2 29.196029 KEEP 0 0 0 97 3521 CC 1 1 0 + 9 60 323 0 0 19.358244 269 60 10290 478 ENST00000244496.5 0.032374 1 CUL7 9820 __UNKNOWN__ __UNKNOWN__ 6 43006485 43006485 __UNKNOWN__ Intron SNP G G C rs149569345 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:43006485G>C ENST00000265348.3 - 24 4526 CUL7_ENST00000535468.1_Intron Q14999 CUL7_HUMAN cullin 7 NA NA activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032) 3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471) breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 49 all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) GGAGAGAAGAGGATGGAGGGA 0.592 NA G||| 88 0.0175719 0.0008 0.0072 5008 , , NA 20590 0.0248 NA 0.0249 False NA ,,, NA NA NA 2504 0.0327 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC033647 CCDS4881.1, CCDS55003.1 6p21.1 2011-05-24 2004-03-22 2004-03-22 ENSG00000044090 ENSG00000044090 9820 21024 protein-coding gene gene with protein product 609577 KIAA0076 KIAA0076 NA 12481031, 12904573 Standard NM_014780 NM_014780 NA Approved dJ20C7.5 uc011dvb.2 Q14999 OTTHUMG00000014718 ENST00000265348.3:c.4441-55C>G chr6.hg19:g.43006485G>C NA B4DYZ0|F5H0L1|Q5T654 hg19 CCDS4881.1 0.02 4.745363 AGAxGAT COVERED NOVEL CUL7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040575.1 1 4.51467 KEEP 0 0 0 15 527 GG 0.99649 0.996477 0 - 6 60 200 0 0 12.859214 100 60 3595 132 ENST00000265348.3 0.056604 0.999987 CUL7 9820 __UNKNOWN__ __UNKNOWN__ 6 43010763 43010763 __UNKNOWN__ Intron SNP T T A rs182296764 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:43010763T>A ENST00000265348.3 - 19 3548 CUL7_ENST00000535468.1_Intron Q14999 CUL7_HUMAN cullin 7 NA NA activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032) 3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471) breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 49 all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) CAACCCAACATGCCACCATTA 0.577 NA T||| 26 0.00519169 0.0 0.0014 5008 , , NA 18899 0.0218 NA 0.0 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 T , 1,4405 2.1+/-5.4 0,1,2202 61 58 59 , -8.9 0 6 59 1,8599 1.2+/-3.3 0,1,4299 no intron,intron CUL7 NM_001168370.1,NM_014780.4 , 0,2,6501 AA,AT,TT 0.0116,0.0227,0.0154 , , 43010763 2,13004 2203 4300 6503 SO:0001627 intron_variant BC033647 CCDS4881.1, CCDS55003.1 6p21.1 2011-05-24 2004-03-22 2004-03-22 ENSG00000044090 ENSG00000044090 9820 21024 protein-coding gene gene with protein product 609577 KIAA0076 KIAA0076 NA 12481031, 12904573 Standard NM_014780 NM_014780 NA Approved dJ20C7.5 uc011dvb.2 Q14999 OTTHUMG00000014718 ENST00000265348.3:c.3463-41A>T chr6.hg19:g.43010763T>A NA B4DYZ0|F5H0L1|Q5T654 hg19 CCDS4881.1 0.02 14.328624 ACAxGCC COVERED NOVEL CUL7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040575.1 2 23.769657 KEEP 0 0 0 79 2424 TT 1 1 0 - 14 60 465 0 0 27.646822 361 60 13077 561 ENST00000265348.3 0.037333 1 CUL7 9820 __UNKNOWN__ __UNKNOWN__ 6 43013662 43013662 __UNKNOWN__ Intron SNP T T C rs2273918 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:43013662T>C ENST00000265348.3 - 13 2852 CUL7_ENST00000478630.1_Intron|CUL7_ENST00000535468.1_Intron Q14999 CUL7_HUMAN cullin 7 NA NA activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032) 3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471) breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 49 all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) TAGGGCCAGATAGAAGCAGGA 0.527 NA T||| 970 0.19369 0.3003 0.1772 5008 , , NA 19636 0.1845 NA 0.0586 False NA ,,, NA NA NA 2504 0.2096 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC033647 CCDS4881.1, CCDS55003.1 6p21.1 2011-05-24 2004-03-22 2004-03-22 ENSG00000044090 ENSG00000044090 9820 21024 protein-coding gene gene with protein product 609577 KIAA0076 KIAA0076 NA 12481031, 12904573 Standard NM_014780 NM_014780 NA Approved dJ20C7.5 uc011dvb.2 Q14999 OTTHUMG00000014718 ENST00000265348.3:c.2766+61A>G chr6.hg19:g.43013662T>C NA B4DYZ0|F5H0L1|Q5T654 hg19 CCDS4881.1 0.02 7.036862 AGAxAGA COVERED NOVEL CUL7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040575.1 2 6.316177 KEEP 0 0 0 21 594 TT 0.999869 0.999869 0 - 7 60 232 0 0 14.074022 167 60 5909 202 ENST00000265348.3 0.04023 1 CUL7 9820 __UNKNOWN__ __UNKNOWN__ 6 43014022 43014022 __UNKNOWN__ Missense_Mutation SNP G G A rs61732148 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:43014022G>A ENST00000265348.3 - 12 2697 c.2612C>T c.(2611-2613)gCc>gTc p.A871V CUL7_ENST00000478630.1_5'UTR|CUL7_ENST00000535468.1_Missense_Mutation_p.A955V Q14999 CUL7_HUMAN cullin 7 871 DOC. {ECO:0000255|PROSITE- ProRule:PRU00614}. NA activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032) 3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471) breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 49 all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) GTGGGAGCCGGCGCTGCCGTT 0.612 NA G||| 86 0.0171725 0.0008 0.0072 5008 , , NA 19151 0.0248 NA 0.0239 False NA ,,, NA NA NA 2504 0.0317 NA NA NA NA 0 G VAL/ALA,VAL/ALA 24,4382 30.8+/-60.4 0,24,2179 96 86 89 2864,2612 4.9 0 6 dbSNP_129 89 238,8362 96.8+/-158.5 4,230,4066 yes missense,missense CUL7 NM_001168370.1,NM_014780.4 64,64 4,254,6245 AA,AG,GG 2.7674,0.5447,2.0145 possibly-damaging,possibly-damaging 955/1783,871/1699 43014022 262,12744 2203 4300 6503 SO:0001583 missense BC033647 CCDS4881.1, CCDS55003.1 6p21.1 2011-05-24 2004-03-22 2004-03-22 ENSG00000044090 ENSG00000044090 9820 21024 protein-coding gene gene with protein product 609577 KIAA0076 KIAA0076 NA 12481031, 12904573 Standard NM_014780 NM_014780 NA Approved dJ20C7.5 uc011dvb.2 Q14999 OTTHUMG00000014718 ENST00000265348.3:c.2612C>T chr6.hg19:g.43014022G>A ENSP00000265348:p.Ala871Val NA B4DYZ0|F5H0L1|Q5T654 hg19 CCDS4881.1 0.02 5.9005 CCGxCGC COVERED 29 0.013278388278388278 1 0.0020325203252032522 3 0.008287292817679558 7 0.012237762237762238 18 0.023746701846965697 G 20.7 4.033004 0.75504 0.005447 0.027674 ENSG00000044090 ENST00000265348;ENST00000535468 T;T 0.71934 -0.61;-0.61 4.9 4.9 0.64082 Anaphase-promoting complex, subunit 10/DOC domain (2);Galactose-binding domain-like (1); 0.501043 0.23228 N 0.050482 T 0.56717 0.2004 L 0.39898 1.24 0.80722 D 1 B;B;B 0.22683 0.073;0.066;0.011 B;B;B 0.29440 0.033;0.102;0.063 T 0.61118 -0.7127 10 0.72032 D 0.01 -9.0869 18.0387 0.89313 0.0:0.0:1.0:0.0 . 955;955;871 F5H0L1;B4DYZ0;Q14999 .;.;CUL7_HUMAN V 871;955 ENSP00000265348:A871V;ENSP00000438788:A955V ENSP00000265348:A871V A - 2 0 CUL7 43122000 0.998000 0.40836 0.008000 0.14137 0.890000 0.51754 7.862000 0.87013 2.434000 0.82447 0.650000 0.86243 GCC NOVEL CUL7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040575.1 0 6.619916 KEEP 0 0 0 22 733 GG 0.999879 0.999879 0 - 6 60 207 0 0 12.362314 160 60 5624 204 ENST00000265348.3 0.036145 1 CUL7 9820 __UNKNOWN__ __UNKNOWN__ 6 43014177 43014177 __UNKNOWN__ Intron SNP G G A rs111320577 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:43014177G>A ENST00000265348.3 - 12 2574 CUL7_ENST00000478630.1_Intron|CUL7_ENST00000535468.1_Intron Q14999 CUL7_HUMAN cullin 7 NA NA activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032) 3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471) breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 49 all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) TGGTGGTCACGGTCAGGTAGG 0.602 NA A||| 203 0.0405351 0.087 0.013 5008 , , NA 20360 0.0228 NA 0.0239 False NA ,,, NA NA NA 2504 0.0327 NA NA NA NA 0 A , 292,4114 799.9+/-415.5 12,268,1923 104 87 93 , 1.5 1 6 dbSNP_132 93 242,8358 808.5+/-407.2 4,234,4062 no intron,intron CUL7 NM_001168370.1,NM_014780.4 , 16,502,5985 AA,AG,GG 2.814,6.6273,4.1058 , , 43014177 534,12472 2203 4300 6503 SO:0001627 intron_variant BC033647 CCDS4881.1, CCDS55003.1 6p21.1 2011-05-24 2004-03-22 2004-03-22 ENSG00000044090 ENSG00000044090 9820 21024 protein-coding gene gene with protein product 609577 KIAA0076 KIAA0076 NA 12481031, 12904573 Standard NM_014780 NM_014780 NA Approved dJ20C7.5 uc011dvb.2 Q14999 OTTHUMG00000014718 ENST00000265348.3:c.2489-32C>T chr6.hg19:g.43014177G>A NA B4DYZ0|F5H0L1|Q5T654 hg19 CCDS4881.1 0.02 6.326872 CACxGTC COVERED NOVEL CUL7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040575.1 1 12.036009 KEEP 0 0 0 40 1311 GG 1 1 0 - 9 60 331 0 0 21.521614 188 60 6497 295 ENST00000265348.3 0.045685 1 PTK7 5754 __UNKNOWN__ __UNKNOWN__ 6 43109751 43109751 __UNKNOWN__ Silent SNP G G A rs6905948 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:43109751G>A ENST00000230419.4 + 12 2072 c.1851G>A c.(1849-1851)ggG>ggA p.G617G PTK7_ENST00000481273.1_Silent_p.G625G|PTK7_ENST00000345201.2_Silent_p.G577G|PTK7_ENST00000349241.2_Silent_p.G487G|PTK7_ENST00000352931.2_Silent_p.G617G NM_002821.4 NP_002812.2 Q13308 PTK7_HUMAN protein tyrosine kinase 7 617 Ig-like C2-type 7. NA actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060) cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887) ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714) NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423) AGGCCCAGGGGGACCCCAAGC 0.597 NA G||| 1693 0.338059 0.4781 0.4179 5008 , , NA 17142 0.0972 NA 0.3887 False NA ,,, NA NA NA 2504 0.2883 NA NA NA NA 0 G ,,, 1975,2431 547.8+/-377.4 451,1073,679 54 58 57 1851,1731,1461,1851 -8.6 1 6 dbSNP_116 57 3262,5338 481.8+/-370.7 596,2070,1634 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous PTK7 NM_002821.3,NM_152880.2,NM_152881.2,NM_152882.2 ,,, 1047,3143,2313 AA,AG,GG 37.9302,44.8252,40.266 ,,, 617/1071,577/1031,487/941,617/1015 43109751 5237,7769 2203 4300 6503 SO:0001819 synonymous_variant AF447176 CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1 6p21.1-p12.2 2013-02-18 2013-02-18 ENSG00000112655 ENSG00000112655 5754 2.7.10.1 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 9618 protein-coding gene gene with protein product 601890 PTK7 protein tyrosine kinase 7 NA 7478540 Standard NM_002821 NA Approved CCK4 uc011dve.2 Q13308 OTTHUMG00000014721 ENST00000230419.4:c.1851G>A chr6.hg19:g.43109751G>A NA A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8 hg19 CCDS4884.1 0.02 10.644343 GGGxGAC COVERED NOVEL PTK7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040580.2 1 24.078378 KEEP 0 0 0 80 2834 GG 1 1 0 + 11 60 331 0 1 19.126126 251 60 8906 452 ENST00000230419.4 0.041985 1 PTK7 5754 __UNKNOWN__ __UNKNOWN__ 6 43110055 43110055 __UNKNOWN__ Intron SNP T T G rs6933124 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:43110055T>G ENST00000230419.4 + 13 2268 PTK7_ENST00000481273.1_Intron|PTK7_ENST00000345201.2_Intron|PTK7_ENST00000349241.2_Intron|PTK7_ENST00000352931.2_Intron NM_002821.4 NP_002812.2 Q13308 PTK7_HUMAN protein tyrosine kinase 7 NA NA actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060) cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887) ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714) NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423) CTGGGGAGGGTTATGCTGCAC 0.587 NA G||| 1380 0.275559 0.4077 0.2061 5008 , , NA 18182 0.3373 NA 0.0895 False NA ,,, NA NA NA 2504 0.274 NA NA NA NA 0 G ,,, 1650,2756 639.6+/-397.1 320,1010,873 41 37 38 ,,, 1.7 0 6 dbSNP_116 38 1040,7560 757.7+/-407.5 58,924,3318 no intron,intron,intron,intron PTK7 NM_002821.3,NM_152880.2,NM_152881.2,NM_152882.2 ,,, 378,1934,4191 GG,GT,TT 12.093,37.4489,20.6828 ,,, ,,, 43110055 2690,10316 2203 4300 6503 SO:0001627 intron_variant AF447176 CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1 6p21.1-p12.2 2013-02-18 2013-02-18 ENSG00000112655 ENSG00000112655 5754 2.7.10.1 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 9618 protein-coding gene gene with protein product 601890 PTK7 protein tyrosine kinase 7 NA 7478540 Standard NM_002821 NA Approved CCK4 uc011dve.2 Q13308 OTTHUMG00000014721 ENST00000230419.4:c.2047+18T>G chr6.hg19:g.43110055T>G NA A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8 hg19 CCDS4884.1 0.02 21.02811 GGGxTAT COVERED NOVEL PTK7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040580.2 4 32.815617 KEEP 0 1 5 111 3329 TT 1 1 0 + 14 60 502 0 0 30.384627 438 60 14871 682 ENST00000230419.4 0.030973 1 PTK7 5754 __UNKNOWN__ __UNKNOWN__ 6 43112412 43112412 __UNKNOWN__ Intron SNP A A G rs72664263 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:43112412A>G ENST00000230419.4 + 15 2628 PTK7_ENST00000481273.1_Intron|PTK7_ENST00000345201.2_Intron|PTK7_ENST00000349241.2_Intron|PTK7_ENST00000352931.2_Intron NM_002821.4 NP_002812.2 Q13308 PTK7_HUMAN protein tyrosine kinase 7 NA NA actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060) cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887) ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714) NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423) GAGGCTGGGTACGGGCTAGTG 0.552 NA A||| 1022 0.204073 0.23 0.1628 5008 , , NA 16882 0.3323 NA 0.0447 False NA ,,, NA NA NA 2504 0.2301 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF447176 CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1 6p21.1-p12.2 2013-02-18 2013-02-18 ENSG00000112655 ENSG00000112655 5754 2.7.10.1 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 9618 protein-coding gene gene with protein product 601890 PTK7 protein tyrosine kinase 7 NA 7478540 Standard NM_002821 NA Approved CCK4 uc011dve.2 Q13308 OTTHUMG00000014721 ENST00000230419.4:c.2407+68A>G chr6.hg19:g.43112412A>G NA A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8 hg19 CCDS4884.1 0.02 8.530887 GGTxCGG COVERED NOVEL PTK7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040580.2 0 12.031458 KEEP 0 0 0 40 1145 AA 1 1 0 + 9 60 296 0 0 17.660898 210 60 7220 291 ENST00000230419.4 0.041096 1 PTK7 5754 __UNKNOWN__ __UNKNOWN__ 6 43128434 43128434 __UNKNOWN__ Intron SNP A A G rs61021888 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:43128434A>G ENST00000230419.4 + 20 3273 PTK7_ENST00000345201.2_Intron|PTK7_ENST00000349241.2_Intron|PTK7_ENST00000352931.2_Intron|PTK7_ENST00000481273.1_Intron NM_002821.4 NP_002812.2 Q13308 PTK7_HUMAN protein tyrosine kinase 7 NA NA actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060) cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887) ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714) NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423) TTTGGCCAACACTGCACCTGC 0.547 NA A||| 1377 0.27496 0.3926 0.255 5008 , , NA 20573 0.3522 NA 0.0994 False NA ,,, NA NA NA 2504 0.2311 NA NA NA NA 0 A ,,, 1611,2795 492.0+/-362.3 307,997,899 50 55 53 ,,, -5.8 0 6 dbSNP_129 53 1071,7529 224.4+/-260.8 67,937,3296 no intron,intron,intron,intron PTK7 NM_002821.3,NM_152880.2,NM_152881.2,NM_152882.2 ,,, 374,1934,4195 GG,GA,AA 12.4535,36.5638,20.6213 ,,, ,,, 43128434 2682,10324 2203 4300 6503 SO:0001627 intron_variant AF447176 CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1 6p21.1-p12.2 2013-02-18 2013-02-18 ENSG00000112655 ENSG00000112655 5754 2.7.10.1 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 9618 protein-coding gene gene with protein product 601890 PTK7 protein tyrosine kinase 7 NA 7478540 Standard NM_002821 NA Approved CCK4 uc011dve.2 Q13308 OTTHUMG00000014721 ENST00000230419.4:c.3053-25A>G chr6.hg19:g.43128434A>G NA A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8 hg19 CCDS4884.1 0.02 4.221469 AACxCTG COVERED NOVEL PTK7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040580.2 2 11.434584 KEEP 0 0 0 38 1192 AA 1 1 0 + 8 60 283 0 0 18.732198 135 60 4793 226 ENST00000230419.4 0.055944 1 PTK7 5754 __UNKNOWN__ __UNKNOWN__ 6 43128852 43128852 __UNKNOWN__ 3'UTR SNP T T C rs34176569|rs1051709 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:43128852T>C ENST00000230419.4 + 0 3667 PTK7_ENST00000345201.2_3'UTR|PTK7_ENST00000349241.2_3'UTR|PTK7_ENST00000352931.2_3'UTR NM_002821.4 NP_002812.2 Q13308 PTK7_HUMAN protein tyrosine kinase 7 NA NA actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060) cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887) ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714) NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423) TGGGCAGTTTTCCCTGCCACC 0.582 NA T||| 1377 0.27496 0.3918 0.255 5008 , , NA 20227 0.3532 NA 0.0994 False NA ,,, NA NA NA 2504 0.2311 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF447176 CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1 6p21.1-p12.2 2013-02-18 2013-02-18 ENSG00000112655 ENSG00000112655 5754 2.7.10.1 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 9618 protein-coding gene gene with protein product 601890 PTK7 protein tyrosine kinase 7 NA 7478540 Standard NM_002821 NA Approved CCK4 uc011dve.2 Q13308 OTTHUMG00000014721 ENST00000230419.4:c.*233T>C chr6.hg19:g.43128852T>C NA A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8 hg19 CCDS4884.1 0.02 18.142315 TTTxCCC COVERED NOVEL PTK7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040580.2 2 22.868401 KEEP 0 0 0 76 2382 TT 1 1 0 + 13 60 483 0 0 29.08143 427 60 15218 613 ENST00000230419.4 0.029545 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 43129480 43129480 __UNKNOWN__ IGR SNP C C G rs6458327 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:43129480C>G NA NA PTK7 (23 upstream) : SRF (9556 downstream) NA NA NA ATTCCCTGCTCTTGCTCGTGG 0.453 NA C||| 1357 0.270966 0.3767 0.255 5008 , , NA 16253 0.3532 NA 0.0994 False NA ,,, NA NA NA 2504 0.2311 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.43129480C>G NA hg19 0.02 6.722418 GCTxTTG COVERED NOVEL 0 5 23.476746 KEEP 0 0 0 78 2814 CC 1 1 0 6 60 232 0 0 14.540809 181 60 6952 339 0.032086 1 SRF 6722 __UNKNOWN__ __UNKNOWN__ 6 43148987 43148987 __UNKNOWN__ 3'UTR SNP G G C rs9395 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:43148987G>C ENST00000265354.4 + 0 3944 NM_003131.2 NP_003122.1 P11831 SRF_HUMAN serum response factor (c-fos serum response element-binding transcription factor) NA NA angiogenesis involved in wound healing (GO:0060055)|associative learning (GO:0008306)|cardiac myofibril assembly (GO:0055003)|cardiac vascular smooth muscle cell differentiation (GO:0060947)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular senescence (GO:0090398)|contractile actin filament bundle assembly (GO:0030038)|developmental growth (GO:0048589)|dorsal aorta morphogenesis (GO:0035912)|epithelial cell-cell adhesion (GO:0090136)|epithelial structure maintenance (GO:0010669)|erythrocyte development (GO:0048821)|eyelid development in camera-type eye (GO:0061029)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula formation (GO:0060347)|hematopoietic stem cell differentiation (GO:0060218)|hippocampus development (GO:0021766)|long term synaptic depression (GO:0060292)|long-term memory (GO:0007616)|megakaryocyte development (GO:0035855)|mesoderm formation (GO:0001707)|morphogenesis of an epithelial sheet (GO:0002011)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|neuron development (GO:0048666)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|platelet formation (GO:0030220)|positive regulation of cell differentiation (GO:0045597)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription by glucose (GO:0046016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription via serum response element binding (GO:0010735)|positive thymic T cell selection (GO:0045059)|primitive streak formation (GO:0090009)|regulation of cell adhesion (GO:0030155)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of water loss via skin (GO:0033561)|response to cytokine (GO:0034097)|response to hormone (GO:0009725)|response to hypoxia (GO:0001666)|response to toxic substance (GO:0009636)|sarcomere organization (GO:0045214)|skin morphogenesis (GO:0043589)|stress fiber assembly (GO:0043149)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|tight junction assembly (GO:0070830)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829) cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634) chromatin DNA binding (GO:0031490)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|serum response element binding (GO:0010736)|transcription factor binding (GO:0008134) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|ovary(1) 12 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423) CGTGTGTCAGGGATGAGTTGA 0.522 NA G||| 964 0.192492 0.2171 0.1556 5008 , , NA 20600 0.3442 NA 0.0427 False NA ,,, NA NA NA 2504 0.183 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant J03161 CCDS4889.1 6p 2008-02-05 ENSG00000112658 ENSG00000112658 6722 11291 protein-coding gene gene with protein product 600589 NA 3203386 Standard NM_003131 NM_003131 NA Approved MCM1 uc003oui.3 P11831 OTTHUMG00000014722 ENST00000265354.4:c.*2059G>C chr6.hg19:g.43148987G>C NA Q5T648 hg19 CCDS4889.1 0.02 10.063952 CAGxGAT COVERED NOVEL SRF-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040581.1 9 46.349838 KEEP 0 0 0 154 5401 GG 1 1 0 + 10 60 344 0 0 20.242983 284 60 10394 560 ENST00000265354.4 0.034014 1 ZNF318 24149 __UNKNOWN__ __UNKNOWN__ 6 43306602 43306602 __UNKNOWN__ Missense_Mutation SNP T T C rs148650984 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:43306602T>C ENST00000361428.2 - 10 5211 c.5134A>G c.(5134-5136)Ata>Gta p.I1712V ZNF318_ENST00000318149.3_Intron NM_014345.2 NP_055160.2 Q5VUA4 ZN318_HUMAN zinc finger protein 318 1712 NA meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270) autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) TCTGGAGATATATCCCTACTA 0.468 NA T||| 8 0.00159744 0.0 0.0 5008 , , NA 21247 0.0079 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 T VAL/ILE 1,4405 2.1+/-5.4 0,1,2202 64 64 64 5134 -4.3 0 6 dbSNP_134 64 0,8600 0,0,4300 yes missense ZNF318 NM_014345.2 29 0,1,6502 CC,CT,TT 0.0,0.0227,0.0077 benign 1712/2280 43306602 1,13005 2203 4300 6503 SO:0001583 missense AF090114 CCDS4895.2 6p21.1 2013-09-19 ENSG00000171467 ENSG00000171467 24149 Zinc fingers, C2H2-type 13578 protein-coding gene gene with protein product NA 10873617 Standard NM_014345 NM_014345 NA Approved HRIHFB2436, ZFP318 uc003oux.3 Q5VUA4 OTTHUMG00000014732 ENST00000361428.2:c.5134A>G chr6.hg19:g.43306602T>C ENSP00000354964:p.Ile1712Val NA O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9 hg19 CCDS4895.2 0.02 7.368823 ATAxATC COVERED 5 0.0022893772893772895 0 0.0 0 0.0 5 0.008741258741258742 0 0.0 T 1.259 -0.616449 0.03663 2.27E-4 0.0 ENSG00000171467 ENST00000361428 T 0.11385 2.78 5.93 -4.35 0.03656 . 0.995270 0.08148 N 0.990453 T 0.00906 0.0030 N 0.08118 0 0.09310 N 0.999999 B 0.06786 0.001 B 0.04013 0.001 T 0.48269 -0.9050 10 0.12766 T 0.61 0.6404 1.7823 0.03034 0.1215:0.3164:0.2486:0.3134 . 1712 Q5VUA4 ZN318_HUMAN V 1712 ENSP00000354964:I1712V ENSP00000354964:I1712V I - 1 0 ZNF318 43414580 0.000000 0.05858 0.000000 0.03702 0.349000 0.29174 -0.313000 0.08103 -0.745000 0.04772 -0.490000 0.04691 ATA NOVEL ZNF318-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040601.2 1 7.822333 KEEP 0 0 0 26 779 TT 0.999957 0.999957 0 - 11 60 434 0 0 30.327577 182 60 6512 249 ENST00000361428.2 0.056995 1 XPO5 57510 __UNKNOWN__ __UNKNOWN__ 6 43536401 43536401 __UNKNOWN__ Intron SNP C C T rs4714687 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:43536401C>T ENST00000265351.7 - 6 859 NM_020750.2 NP_065801.1 Q9HAV4 XPO5_HUMAN exportin 5 NA NA gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|protein export from nucleus (GO:0006611) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|tRNA binding (GO:0000049) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 34 all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243) all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524) TATCCCCTCACCTGAAAGGTT 0.458 NA C||| 830 0.165735 0.0008 0.1513 5008 , , NA 19516 0.5407 NA 0.0169 False NA ,,, NA NA NA 2504 0.1656 NA NA NA NA 0 C 22,3860 0,22,1919 83 87 86 0.8 0 6 dbSNP_111 86 25,8243 0,25,4109 no intron XPO5 NM_020750.2 0,47,6028 TT,TC,CC 0.3024,0.5667,0.3868 43536401 47,12103 1941 4134 6075 SO:0001627 intron_variant AB033117 CCDS47430.1 6p21.1 2011-04-13 ENSG00000124571 ENSG00000124571 57510 Exportins 17675 protein-coding gene gene with protein product 607845 NA 11777942, 12426392 Standard NM_020750 NM_020750 NA Approved KIAA1291 uc003ovp.3 Q9HAV4 OTTHUMG00000014742 ENST00000265351.7:c.648+46G>A chr6.hg19:g.43536401C>T NA Q5JTE6|Q96G48|Q96HN3|Q9BWM6|Q9BZV5|Q9H9M4|Q9NT89|Q9NW39|Q9ULC9 hg19 CCDS47430.1 0.02 4.343614 TCAxCTG COVERED NOVEL XPO5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040657.2 6 12.038988 KEEP 0 0 0 40 1406 CC 1 1 0 - 10 60 375 0 0 26.998008 119 60 4421 213 ENST00000265351.7 0.077519 1 XPO5 57510 __UNKNOWN__ __UNKNOWN__ 6 43538208 43538208 __UNKNOWN__ Intron SNP T T C rs35642078 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:43538208T>C ENST00000265351.7 - 5 832 NM_020750.2 NP_065801.1 Q9HAV4 XPO5_HUMAN exportin 5 NA NA gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|protein export from nucleus (GO:0006611) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|tRNA binding (GO:0000049) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 34 all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243) all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524) TATTGGAAAATAGAAATGTTA 0.323 NA T||| 1546 0.308706 0.062 0.3084 5008 , , NA 15853 0.62 NA 0.3221 False NA ,,, NA NA NA 2504 0.3078 NA NA NA NA 0 T 377,3255 23,331,1462 108 107 107 -8.5 0 6 dbSNP_126 107 2417,5735 339,1739,1998 no intron XPO5 NM_020750.2 362,2070,3460 CC,CT,TT 29.6492,10.38,23.7101 43538208 2794,8990 1816 4076 5892 SO:0001627 intron_variant AB033117 CCDS47430.1 6p21.1 2011-04-13 ENSG00000124571 ENSG00000124571 57510 Exportins 17675 protein-coding gene gene with protein product 607845 NA 11777942, 12426392 Standard NM_020750 NM_020750 NA Approved KIAA1291 uc003ovp.3 Q9HAV4 OTTHUMG00000014742 ENST00000265351.7:c.621+30A>G chr6.hg19:g.43538208T>C NA Q5JTE6|Q96G48|Q96HN3|Q9BWM6|Q9BZV5|Q9H9M4|Q9NT89|Q9NW39|Q9ULC9 hg19 CCDS47430.1 0.02 4.246013 AAAxAGA COVERED NOVEL XPO5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040657.2 0 3.008524 KEEP 0 0 0 10 296 TT 0.992708 0.992695 0 - 9 60 331 0 0 24.019277 97 60 3525 117 ENST00000265351.7 0.084906 0.999987 VEGFA 7422 __UNKNOWN__ __UNKNOWN__ 6 43747623 43747623 __UNKNOWN__ Intron SNP A A T rs3025011 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:43747623A>T ENST00000523950.1 + 5 460 VEGFA_ENST00000520948.1_Intron|VEGFA_ENST00000324450.6_Intron|VEGFA_ENST00000372067.3_Intron|VEGFA_ENST00000523125.1_Intron|VEGFA_ENST00000372064.4_Intron|VEGFA_ENST00000518689.1_Intron|VEGFA_ENST00000457104.2_Intron|VEGFA_ENST00000372055.4_Intron|VEGFA_ENST00000372077.4_Intron|VEGFA_ENST00000230480.6_Intron|VEGFA_ENST00000425836.2_Intron|VEGFA_ENST00000417285.2_Intron|VEGFA_ENST00000523873.1_Intron|VEGFA_ENST00000518824.1_Intron|VEGFA_ENST00000413642.3_Intron|VEGFA_ENST00000482630.2_Intron P15692 VEGFA_HUMAN vascular endothelial growth factor A NA NA activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|artery morphogenesis (GO:0048844)|basophil chemotaxis (GO:0002575)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|camera-type eye morphogenesis (GO:0048593)|cardiac muscle fiber development (GO:0048739)|cardiac vascular smooth muscle cell development (GO:0060948)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to hypoxia (GO:0071456)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|dopaminergic neuron differentiation (GO:0071542)|endothelial cell chemotaxis (GO:0035767)|epithelial cell differentiation (GO:0030855)|eye photoreceptor cell development (GO:0042462)|growth (GO:0040007)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|induction of positive chemotaxis (GO:0050930)|kidney development (GO:0001822)|lactation (GO:0007595)|lung development (GO:0030324)|lymph vessel morphogenesis (GO:0036303)|macrophage differentiation (GO:0030225)|mammary gland alveolus development (GO:0060749)|mesoderm development (GO:0007498)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|outflow tract morphogenesis (GO:0003151)|ovarian follicle development (GO:0001541)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cellular component movement (GO:0051272)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine autophosphorylation (GO:1900086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein localization to early endosome (GO:1902966)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor internalization (GO:0002092)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of vascular permeability (GO:0043117)|post-embryonic camera-type eye development (GO:0031077)|primitive erythrocyte differentiation (GO:0060319)|regulation of cell shape (GO:0008360)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to hypoxia (GO:0001666)|surfactant homeostasis (GO:0043129)|tube formation (GO:0035148)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|VEGF-activated neuropilin signaling pathway (GO:0038190) cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141) chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|neuropilin binding (GO:0038191)|platelet-derived growth factor receptor binding (GO:0005161)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor agonist activity (GO:0048018)|vascular endothelial growth factor receptor 1 binding (GO:0043183)|vascular endothelial growth factor receptor 2 binding (GO:0043184)|vascular endothelial growth factor receptor binding (GO:0005172) breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1) 9 all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309) all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196) Aflibercept(DB08885)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Dalteparin(DB06779)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Vandetanib(DB05294) GACAGGCTACAGCCTGCCCCC 0.587 NA A||| 289 0.0577077 0.0053 0.036 5008 , , NA 17942 0.13 NA 0.0577 False NA ,,, NA NA NA 2504 0.0695 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB021221 CCDS34457.1, CCDS4907.2, CCDS34458.1, CCDS47432.1, CCDS47433.1, CCDS47434.1, CCDS47435.1, CCDS55007.1, CCDS55008.1, CCDS55009.1, CCDS55010.1, CCDS55011.1, CCDS55012.1, CCDS55013.1, CCDS55014.1, CCDS55015.1, CCDS69125.1 6p12 2008-02-05 2006-10-31 2006-10-31 ENSG00000112715 ENSG00000112715 7422 12680 protein-coding gene gene with protein product 192240 vascular endothelial growth factor VEGF NA 8786112 Standard NM_001025366 NM_001025366 NA Approved VEGF-A, VPF uc003owh.3 P15692 OTTHUMG00000014745 ENST00000523950.1:c.422+968A>T chr6.hg19:g.43747623A>T NA B5BU86|H0Y2S8|H0Y407|H0Y414|H0Y462|H0Y8N2|H3BLW7|O60720|O75875|Q074Z4|Q16889|Q5UB46|Q6P0P5|Q96KJ0|Q96L82|Q96NW5|Q9H1W8|Q9H1W9|Q9UH58|Q9UL23 hg19 CCDS55012.1 0.02 6.619908 TACxGCC COVERED NOVEL VEGFA-018 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000374457.1 2 9.025484 KEEP 0 0 0 30 894 AA 0.999997 0.999997 0 + 6 60 220 0 0 13.505275 170 60 6093 219 ENST00000523950.1 0.034091 1 VEGFA 7422 __UNKNOWN__ __UNKNOWN__ 6 43753212 43753212 __UNKNOWN__ 3'UTR SNP A A G rs10434 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:43753212A>G ENST00000372067.3 + 0 2523 VEGFA_ENST00000372064.4_3'UTR|VEGFA_ENST00000372077.4_3'UTR NM_001025366.2|NM_001025367.2|NM_001025368.2|NM_001025369.2|NM_001033756.2|NM_001171623.1|NM_001171624.1|NM_001171625.1|NM_001171626.1|NM_001171627.1|NM_001171629.1|NM_003376.5 NP_001020537.2|NP_001020538.2|NP_001020539|NP_001020540.2|NP_001028928.1|NP_001165094.1|NP_001165095.1|NP_001165096.1|NP_001165097.1|NP_001165098.1|NP_001165100.1|NP_003367.4 P15692 VEGFA_HUMAN vascular endothelial growth factor A NA NA activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|artery morphogenesis (GO:0048844)|basophil chemotaxis (GO:0002575)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|camera-type eye morphogenesis (GO:0048593)|cardiac muscle fiber development (GO:0048739)|cardiac vascular smooth muscle cell development (GO:0060948)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to hypoxia (GO:0071456)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|dopaminergic neuron differentiation (GO:0071542)|endothelial cell chemotaxis (GO:0035767)|epithelial cell differentiation (GO:0030855)|eye photoreceptor cell development (GO:0042462)|growth (GO:0040007)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|induction of positive chemotaxis (GO:0050930)|kidney development (GO:0001822)|lactation (GO:0007595)|lung development (GO:0030324)|lymph vessel morphogenesis (GO:0036303)|macrophage differentiation (GO:0030225)|mammary gland alveolus development (GO:0060749)|mesoderm development (GO:0007498)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|outflow tract morphogenesis (GO:0003151)|ovarian follicle development (GO:0001541)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cellular component movement (GO:0051272)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine autophosphorylation (GO:1900086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein localization to early endosome (GO:1902966)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor internalization (GO:0002092)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of vascular permeability (GO:0043117)|post-embryonic camera-type eye development (GO:0031077)|primitive erythrocyte differentiation (GO:0060319)|regulation of cell shape (GO:0008360)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to hypoxia (GO:0001666)|surfactant homeostasis (GO:0043129)|tube formation (GO:0035148)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|VEGF-activated neuropilin signaling pathway (GO:0038190) cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141) chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|neuropilin binding (GO:0038191)|platelet-derived growth factor receptor binding (GO:0005161)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor agonist activity (GO:0048018)|vascular endothelial growth factor receptor 1 binding (GO:0043183)|vascular endothelial growth factor receptor 2 binding (GO:0043184)|vascular endothelial growth factor receptor binding (GO:0005172) breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1) 9 all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309) all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196) Aflibercept(DB08885)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Dalteparin(DB06779)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Vandetanib(DB05294) TGCCCAGGAGACCACTGGCAG 0.607 NA G||| 3267 0.652356 0.6747 0.7363 5008 , , NA 18661 0.7798 NA 0.5398 False NA ,,, NA NA NA 2504 0.547 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB021221 CCDS34457.1, CCDS4907.2, CCDS34458.1, CCDS47432.1, CCDS47433.1, CCDS47434.1, CCDS47435.1, CCDS55007.1, CCDS55008.1, CCDS55009.1, CCDS55010.1, CCDS55011.1, CCDS55012.1, CCDS55013.1, CCDS55014.1, CCDS55015.1, CCDS69125.1 6p12 2008-02-05 2006-10-31 2006-10-31 ENSG00000112715 ENSG00000112715 7422 12680 protein-coding gene gene with protein product 192240 vascular endothelial growth factor VEGF NA 8786112 Standard NM_001025366 NM_001025366 NA Approved VEGF-A, VPF uc003owh.3 P15692 OTTHUMG00000014745 ENST00000372067.3:c.*913A>G chr6.hg19:g.43753212A>G NA B5BU86|H0Y2S8|H0Y407|H0Y414|H0Y462|H0Y8N2|H3BLW7|O60720|O75875|Q074Z4|Q16889|Q5UB46|Q6P0P5|Q96KJ0|Q96L82|Q96NW5|Q9H1W8|Q9H1W9|Q9UH58|Q9UL23 hg19 CCDS34458.1 0.02 22.095066 GAGxCCA COVERED NOVEL VEGFA-001 KNOWN non_ATG_start|basic|CCDS protein_coding NA protein_coding OTTHUMT00000040681.5 1 18.890159 KEEP 0 1 35 75 2299 AA 1 1 0 + 26 60 994 0 0 67.966307 452 60 15817 653 ENST00000372067.3 0.054393 1 MRPL14 64928 __UNKNOWN__ __UNKNOWN__ 6 44081203 44081203 __UNKNOWN__ 3'UTR SNP T T C rs9394986 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:44081203T>C ENST00000372014.3 - 0 946 NM_032111.2 NP_115487.2 Q6P1L8 RM14_HUMAN mitochondrial ribosomal protein L14 NA NA translation (GO:0006412) mitochondrion (GO:0005739)|ribosome (GO:0005840) poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735) breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 12 all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0181) GTTAGAGCCATGGTACATTTA 0.393 NA C||| 3424 0.683706 0.8457 0.719 5008 , , NA 19778 0.7986 NA 0.496 False NA ,,, NA NA NA 2504 0.5143 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB051339 CCDS34460.1 6p21.3 2012-09-13 ENSG00000180992 ENSG00000180992 64928 Mitochondrial ribosomal proteins / large subunits 14279 protein-coding gene gene with protein product 611827 NA Standard NM_032111 XM_005249300 NA Approved RPML32, MRP-L32 uc003owp.3 Q6P1L8 OTTHUMG00000014756 ENST00000372014.3:c.*377A>G chr6.hg19:g.44081203T>C NA B2R575|Q96Q72 hg19 CCDS34460.1 0.02 4.454561 CCAxGGT COVERED NOVEL MRPL14-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040707.1 2 3.909056 KEEP 0 0 0 13 369 TT 0.994391 0.994375 0 - 5 60 177 0 0 11.360933 100 60 3597 121 ENST00000372014.3 0.047619 0.999984 MRPL14 64928 __UNKNOWN__ __UNKNOWN__ 6 44081718 44081718 __UNKNOWN__ Silent SNP G G A rs6883 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:44081718G>A ENST00000372014.3 - 3 431 c.300C>T c.(298-300)ttC>ttT p.F100F NM_032111.2 NP_115487.2 Q6P1L8 RM14_HUMAN mitochondrial ribosomal protein L14 100 NA translation (GO:0006412) mitochondrion (GO:0005739)|ribosome (GO:0005840) poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735) breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 12 all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0181) TGTTGGAGTCGAATCTGGGGG 0.587 NA G||| 3356 0.670128 0.8079 0.719 5008 , , NA 18173 0.7857 NA 0.495 False NA ,,, NA NA NA 2504 0.5102 NA NA NA NA 0 G 3349,1057 725.1+/-409.6 1269,811,123 97 100 99 300 -10 0.3 6 dbSNP_52 99 4304,4296 578.3+/-390.7 1079,2146,1075 no coding-synonymous MRPL14 NM_032111.2 2348,2957,1198 AA,AG,GG 49.9535,23.99,41.1579 100/146 44081718 7653,5353 2203 4300 6503 SO:0001819 synonymous_variant AB051339 CCDS34460.1 6p21.3 2012-09-13 ENSG00000180992 ENSG00000180992 64928 Mitochondrial ribosomal proteins / large subunits 14279 protein-coding gene gene with protein product 611827 NA Standard NM_032111 XM_005249300 NA Approved RPML32, MRP-L32 uc003owp.3 Q6P1L8 OTTHUMG00000014756 ENST00000372014.3:c.300C>T chr6.hg19:g.44081718G>A NA B2R575|Q96Q72 hg19 CCDS34460.1 0.02 12.97269 GTCxAAT COVERED NOVEL MRPL14-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040707.1 1 25.579087 KEEP 0 0 0 85 2828 GG 1 1 0 - 24 60 879 0 0 61.788453 313 60 10932 504 ENST00000372014.3 0.071217 1 TMEM63B 55362 __UNKNOWN__ __UNKNOWN__ 6 44117607 44117607 __UNKNOWN__ Silent SNP C C T rs4714761 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:44117607C>T ENST00000259746.9 + 16 1608 c.1425C>T c.(1423-1425)atC>atT p.I475I TMEM63B_ENST00000323267.6_Silent_p.I475I Q5T3F8 CSCL2_HUMAN transmembrane protein 63B 475 NA ion transport (GO:0006811) integral component of membrane (GO:0016021) nucleotide binding (GO:0000166) p.I475I(1) breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4) 35 all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215) ACCCCATCATCACCCAGTTCT 0.622 NA C||| 483 0.0964457 0.0045 0.0821 5008 , , NA 18853 0.2252 NA 0.0755 False NA ,,, NA NA NA 2504 0.1196 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) C 81,4325 70.3+/-108.2 2,77,2124 184 127 146 1425 4.5 1 6 dbSNP_111 146 663,7935 161.0+/-214.0 28,607,3664 no coding-synonymous TMEM63B NM_018426.1 30,684,5788 TT,TC,CC 7.7111,1.8384,5.7213 475/833 44117607 744,12260 2203 4299 6502 SO:0001819 synonymous_variant BC022095 CCDS34461.1 6p21.1 2008-02-05 2005-07-25 2005-07-25 ENSG00000137216 ENSG00000137216 55362 17735 protein-coding gene gene with protein product chromosome 6 open reading frame 110 C6orf110 NA Standard XM_166410 XM_005249211 NA Approved DKFZp434P0531, dJ421H19.2 uc003owr.3 Q5T3F8 OTTHUMG00000014757 ENST00000259746.9:c.1425C>T chr6.hg19:g.44117607C>T NA B9EGU3|Q5T3F9|Q6AHX4|Q6P5A0|Q8N219|Q8NDE1|Q9NSG5 hg19 CCDS34461.1 0.02 3.789362 CATxACC COVERED 229 0.10485347985347986 1 0.0020325203252032522 31 0.0856353591160221 142 0.24825174825174826 55 0.07255936675461741 C 10.69 1.420175 0.25552 0.018384 0.077111 ENSG00000137216 ENST00000371893 . . . 4.49 4.49 0.54785 . . . . . T 0.64483 0.2602 . . . 0.09310 P 1.0 . . . . . . T 0.64504 -0.6392 3 . . . . 16.6913 0.85322 0.0:1.0:0.0:0.0 rs4714761;rs61002242;rs4714761 . . . L 404 . . S + 2 0 TMEM63B 44225585 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 3.032000 0.49736 2.488000 0.83962 0.549000 0.68633 TCA NOVEL TMEM63B-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040712.2 1 6.854849 KEEP 0 1 20 30 994 CC 0.999997 0.999997 0 + 5 60 173 0 0 10.593244 119 60 4370 194 ENST00000259746.9 0.040323 0.999999 TMEM63B 55362 __UNKNOWN__ __UNKNOWN__ 6 44117664 44117664 __UNKNOWN__ Silent SNP C C T rs4714762 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:44117664C>T ENST00000259746.9 + 16 1665 c.1482C>T c.(1480-1482)atC>atT p.I494I TMEM63B_ENST00000323267.6_Silent_p.I494I Q5T3F8 CSCL2_HUMAN transmembrane protein 63B 494 NA ion transport (GO:0006811) integral component of membrane (GO:0016021) nucleotide binding (GO:0000166) p.I494I(1) breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4) 35 all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215) TTCCCACCATCGTCTACTACT 0.612 NA C||| 528 0.105431 0.0061 0.0965 5008 , , NA 20116 0.2321 NA 0.0984 False NA ,,, NA NA NA 2504 0.1227 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) C 108,4298 85.3+/-124.0 2,104,2097 205 144 165 1482 0.3 1 6 dbSNP_111 165 914,7686 201.8+/-245.2 53,808,3439 no coding-synonymous TMEM63B NM_018426.1 55,912,5536 TT,TC,CC 10.6279,2.4512,7.8579 494/833 44117664 1022,11984 2203 4300 6503 SO:0001819 synonymous_variant BC022095 CCDS34461.1 6p21.1 2008-02-05 2005-07-25 2005-07-25 ENSG00000137216 ENSG00000137216 55362 17735 protein-coding gene gene with protein product chromosome 6 open reading frame 110 C6orf110 NA Standard XM_166410 XM_005249211 NA Approved DKFZp434P0531, dJ421H19.2 uc003owr.3 Q5T3F8 OTTHUMG00000014757 ENST00000259746.9:c.1482C>T chr6.hg19:g.44117664C>T NA B9EGU3|Q5T3F9|Q6AHX4|Q6P5A0|Q8N219|Q8NDE1|Q9NSG5 hg19 CCDS34461.1 0.02 9.070127 CATxGTC COVERED 257 0.11767399267399267 2 0.0040650406504065045 38 0.10497237569060773 146 0.25524475524475526 71 0.09366754617414248 C 10.43 1.347414 0.24426 0.024512 0.106279 ENSG00000137216 ENST00000371893 . . . 4.42 0.341 0.15991 . . . . . T 0.24547 0.0595 . . . 0.09310 P 1.0 . . . . . . T 0.10706 -1.0618 3 . . . . 8.5159 0.33246 0.0:0.4934:0.0:0.5066 rs4714762;rs57455510 . . . L 423 . . S + 2 0 TMEM63B 44225642 0.001000 0.12720 0.998000 0.56505 0.985000 0.73830 -1.277000 0.02812 -0.057000 0.13199 -0.437000 0.05841 TCG NOVEL TMEM63B-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040712.2 0 18.351165 KEEP 0 0 0 61 2066 CC 1 1 0 + 10 60 364 0 0 23.870033 193 60 6929 339 ENST00000259746.9 0.049261 1 TMEM63B 55362 __UNKNOWN__ __UNKNOWN__ 6 44117727 44117727 __UNKNOWN__ Intron SNP A A G rs4711768 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:44117727A>G ENST00000259746.9 + 16 1703 TMEM63B_ENST00000323267.6_Intron Q5T3F8 CSCL2_HUMAN transmembrane protein 63B NA NA ion transport (GO:0006811) integral component of membrane (GO:0016021) nucleotide binding (GO:0000166) breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4) 35 all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215) CTCACACCACACCTCGCTGTG 0.612 NA A||| 1230 0.245607 0.1914 0.3228 5008 , , NA 20370 0.2808 NA 0.2117 False NA ,,, NA NA NA 2504 0.2628 NA NA NA NA 0 A 865,3541 327.7+/-300.2 87,691,1425 129 94 106 0.1 0 6 dbSNP_111 106 2139,6461 342.6+/-324.5 249,1641,2410 no intron TMEM63B NM_018426.1 336,2332,3835 GG,GA,AA 24.8721,19.6323,23.097 44117727 3004,10002 2203 4300 6503 SO:0001627 intron_variant BC022095 CCDS34461.1 6p21.1 2008-02-05 2005-07-25 2005-07-25 ENSG00000137216 ENSG00000137216 55362 17735 protein-coding gene gene with protein product chromosome 6 open reading frame 110 C6orf110 NA Standard XM_166410 XM_005249211 NA Approved DKFZp434P0531, dJ421H19.2 uc003owr.3 Q5T3F8 OTTHUMG00000014757 ENST00000259746.9:c.1520+25A>G chr6.hg19:g.44117727A>G NA B9EGU3|Q5T3F9|Q6AHX4|Q6P5A0|Q8N219|Q8NDE1|Q9NSG5 hg19 CCDS34461.1 0.02 8.09114 CACxCCT COVERED NOVEL TMEM63B-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040712.2 0 21.643024 KEEP 0 0 0 72 2123 AA 1 1 0 + 8 60 282 0 0 17.045747 216 60 7442 397 ENST00000259746.9 0.035714 1 CAPN11 11131 __UNKNOWN__ __UNKNOWN__ 6 44137663 44137663 __UNKNOWN__ Silent SNP A A G rs2275745 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:44137663A>G ENST00000398776.1 + 4 398 c.360A>G c.(358-360)ctA>ctG p.L120L CAPN11_ENST00000542245.1_Silent_p.L120L NM_007058.3 NP_008989.2 Q9UMQ6 CAN11_HUMAN calpain 11 120 Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}. NA proteolysis (GO:0006508) acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737) calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|peptidase activity (GO:0008233) breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1) 36 all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) ACAACCCTCTATTCATCATGG 0.542 NA A||| 60 0.0119808 0.0 0.0 5008 , , NA 18546 0.0546 NA 0.0 False NA ,,, NA NA NA 2504 0.0051 NA NA NA NA 0 A 1,3797 0,1,1898 49 50 50 360 -8.3 0 6 dbSNP_100 50 1,8209 0,1,4104 no coding-synonymous CAPN11 NM_007058.3 0,2,6002 GG,GA,AA 0.0122,0.0263,0.0167 120/740 44137663 2,12006 1899 4105 6004 SO:0001819 synonymous_variant AJ242832 CCDS47436.1 6p12 2013-01-10 ENSG00000137225 ENSG00000137225 11131 EF-hand domain containing 1478 protein-coding gene gene with protein product 604822 NA 10409436 Standard NM_007058 NA Approved uc003owt.1 Q9UMQ6 OTTHUMG00000014758 ENST00000398776.1:c.360A>G chr6.hg19:g.44137663A>G NA B2RA64|Q5T3G1|Q8N4R5 hg19 CCDS47436.1 0.02 4.739796 TCTxTTC COVERED NOVEL CAPN11-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000040714.3 0 7.820257 KEEP 0 0 0 26 766 AA 0.999957 0.999955 0 + 5 60 185 0 0 11.901832 113 60 4038 179 ENST00000398776.1 0.042373 0.999998 HSP90AB1 3326 __UNKNOWN__ __UNKNOWN__ 6 44221293 44221293 __UNKNOWN__ Silent SNP C C T rs147025760 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:44221293C>T ENST00000371554.1 + 12 2347 c.2133C>T c.(2131-2133)ctC>ctT p.L711L HSP90AB1_ENST00000353801.3_Silent_p.L711L|HSP90AB1_ENST00000371646.5_Silent_p.L711L P08238 HS90B_HUMAN heat shock protein 90kDa alpha (cytosolic), class B member 1 711 NA axon guidance (GO:0007411)|cellular response to interleukin-4 (GO:0071353)|cellular response to organic cyclic compound (GO:0071407)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|placenta development (GO:0001890)|positive regulation of cell size (GO:0045793)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein folding (GO:0006457)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to salt stress (GO:0009651)|response to unfolded protein (GO:0006986) apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739) ATP binding (GO:0005524)|CTP binding (GO:0002135)|dATP binding (GO:0032564)|double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|poly(A) RNA binding (GO:0044822)|TPR domain binding (GO:0030911)|UTP binding (GO:0002134) NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2) 33 all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) TCCCCCCTCTCGAGGGCGATG 0.493 NA OREG0017471 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) NA NA NA NA NA NA NA NA NA NA 0 78 80 79 NA NA 6 NA 44221293 2203 4300 6503 SO:0001819 synonymous_variant AF275719 CCDS4909.1 6p12 2011-09-02 2006-02-24 2006-02-24 ENSG00000096384 ENSG00000096384 3326 Heat shock proteins / HSPC 5258 protein-coding gene gene with protein product 140572 heat shock 90kD protein 1, beta, heat shock 90kDa protein 1, beta HSPC2, HSPCB NA 2768249, 16269234 Standard NM_007355 NM_001271969 NA Approved uc031sor.1 P08238 OTTHUMG00000014761 ENST00000371554.1:c.2133C>T chr6.hg19:g.44221293C>T 922 B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6 hg19 CCDS4909.1 0.02 32.396354 TCTxGAG COVERED NOVEL HSP90AB1-005 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040730.1 4 20.267505 KEEP 0 6 178 130 4420 CC 1 1 0 + 39 59 1411 0 0 94.231241 667 60 23935 1063 ENST00000371554.1 0.055241 1 HSP90AB1 3326 __UNKNOWN__ __UNKNOWN__ 6 44221299 44221299 __UNKNOWN__ Silent SNP C C T rs143048794 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:44221299C>T ENST00000371554.1 + 12 2353 c.2139C>T c.(2137-2139)ggC>ggT p.G713G HSP90AB1_ENST00000353801.3_Silent_p.G713G|HSP90AB1_ENST00000371646.5_Silent_p.G713G P08238 HS90B_HUMAN heat shock protein 90kDa alpha (cytosolic), class B member 1 713 NA axon guidance (GO:0007411)|cellular response to interleukin-4 (GO:0071353)|cellular response to organic cyclic compound (GO:0071407)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|placenta development (GO:0001890)|positive regulation of cell size (GO:0045793)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein folding (GO:0006457)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to salt stress (GO:0009651)|response to unfolded protein (GO:0006986) apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739) ATP binding (GO:0005524)|CTP binding (GO:0002135)|dATP binding (GO:0032564)|double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|poly(A) RNA binding (GO:0044822)|TPR domain binding (GO:0030911)|UTP binding (GO:0002134) p.G713G(1) NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2) 33 all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) CTCTCGAGGGCGATGAGGATG 0.498 NA OREG0017471 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) NA NA NA NA NA NA NA NA NA NA 1 Substitution - coding silent(1) lung(1) 79 82 81 NA NA 6 NA 44221299 2203 4300 6503 SO:0001819 synonymous_variant AF275719 CCDS4909.1 6p12 2011-09-02 2006-02-24 2006-02-24 ENSG00000096384 ENSG00000096384 3326 Heat shock proteins / HSPC 5258 protein-coding gene gene with protein product 140572 heat shock 90kD protein 1, beta, heat shock 90kDa protein 1, beta HSPC2, HSPCB NA 2768249, 16269234 Standard NM_007355 NM_001271969 NA Approved uc031sor.1 P08238 OTTHUMG00000014761 ENST00000371554.1:c.2139C>T chr6.hg19:g.44221299C>T 922 B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6 hg19 CCDS4909.1 0.02 35.683126 GGGxGAT COVERED NOVEL HSP90AB1-005 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040730.1 5 18.232698 KEEP 0 8 234 143 4987 CC 1 1 0 + 48 60 1596 0 0 105.352371 696 60 24605 1129 ENST00000371554.1 0.064516 1 SLC35B2 347734 __UNKNOWN__ __UNKNOWN__ 6 44223010 44223010 __UNKNOWN__ 3'UTR SNP G G T rs1875324 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:44223010G>T ENST00000393810.1 - 0 720 SLC35B2_ENST00000537814.1_Silent_p.T111T|SLC35B2_ENST00000393812.3_Silent_p.T244T|SLC35B2_ENST00000495706.1_5'UTR|SLC35B2_ENST00000538577.1_Silent_p.T151T Q8TB61 S35B2_HUMAN solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2 NA NA 3'-phospho-5'-adenylyl sulfate transmembrane transport (GO:1902559)|3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|3'-phosphoadenosine 5'-phosphosulfate transport (GO:0046963)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805) Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020) 3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity (GO:0046964)|signal transducer activity (GO:0004871) breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1) 15 all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) TGGAGATGAGGGTGGCTGTCA 0.592 NA g||| 1012 0.202077 0.0076 0.1945 5008 , , NA 19124 0.3899 NA 0.1958 False NA ,,, NA NA NA 2504 0.2832 NA NA NA NA 0 G 170,4236 111.6+/-149.8 1,168,2034 74 72 73 732 2.5 1 6 dbSNP_92 73 1696,6904 309.4+/-309.4 149,1398,2753 no coding-synonymous SLC35B2 NM_178148.2 150,1566,4787 TT,TG,GG 19.7209,3.8584,14.3472 244/433 44223010 1866,11140 2203 4300 6503 SO:0001624 3_prime_UTR_variant AK075456 CCDS34462.1, CCDS69127.1, CCDS75462.1, CCDS75463.1 6p12.1-p11.21 2013-07-17 2013-07-17 ENSG00000157593 ENSG00000157593 347734 Solute carriers 16872 protein-coding gene gene with protein product 610788 solute carrier family 35, member B2 NA Standard NM_001286517 NA Approved UGTrel4 uc003oxd.3 Q8TB61 OTTHUMG00000014760 ENST00000393810.1:c.*292C>A chr6.hg19:g.44223010G>T NA B4DDU9|F5H7Y9|Q2VY06|Q53GA3|Q5T9W1|Q5T9W2|Q7Z2G3|Q8NBK6|Q96AR6 hg19 0.02 27.40263 GAGxGTG COVERED NOVEL SLC35B2-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000040725.2 4 46.313272 KEEP 0 0 0 154 5289 GG 1 1 0 - 22 60 758 0 0 44.41124 667 60 24524 985 ENST00000393810.1 0.03193 1 RP11-444E17.6 0 __UNKNOWN__ __UNKNOWN__ 6 44244602 44244602 __UNKNOWN__ Intron SNP G G C rs170510 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:44244602G>C ENST00000505802.1 + 1 313 TMEM151B_ENST00000438774.2_Intron|TMEM151B_ENST00000451188.2_3'UTR NA NA NA TGGGCCCCGCGTTGGGCCTTG 0.582 NA G||| 1224 0.244409 0.028 0.1888 5008 , , NA 19061 0.4077 NA 0.3121 False NA ,,, NA NA NA 2504 0.3384 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000505802.1:c.313+3359G>C chr6.hg19:g.44244602G>C NA hg19 0.02 10.878237 CGCxTTG COVERED NOVEL RP11-444E17.6-001 KNOWN mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000470403.1 2 18.057958 KEEP 0 0 0 60 2078 GG 1 1 0 + 8 60 304 1 0 18.300324 284 60 10127 419 ENST00000505802.1 0.027397 1 RP11-444E17.6 0 __UNKNOWN__ __UNKNOWN__ 6 44245323 44245323 __UNKNOWN__ Intron SNP C C G rs325019 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:44245323C>G ENST00000505802.1 + 1 313 TMEM151B_ENST00000438774.2_Intron|TMEM151B_ENST00000451188.2_3'UTR NA NA NA CTCCCTAAACCTGTGCGGAGG 0.577 NA C||| 1118 0.223243 0.0257 0.1614 5008 , , NA 18631 0.4058 NA 0.2485 False NA ,,, NA NA NA 2504 0.32 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000505802.1:c.313+4080C>G chr6.hg19:g.44245323C>G NA hg19 0.02 4.293175 AACxTGT COVERED NOVEL RP11-444E17.6-001 KNOWN mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000470403.1 1 4.815266 KEEP 0 0 0 16 559 CC 0.997832 0.997826 0 + 9 60 319 0 0 22.596337 103 60 3880 157 ENST00000505802.1 0.080357 0.999995 AARS2 57505 __UNKNOWN__ __UNKNOWN__ 6 44270936 44270936 __UNKNOWN__ Intron SNP C C T rs325001 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:44270936C>T ENST00000244571.4 - 16 2148 RP11-444E17.6_ENST00000505802.1_Intron|TMEM151B_ENST00000438774.2_Intron NM_020745.3 NP_065796 alanyl-tRNA synthetase 2, mitochondrial NA NA breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1) 34 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) GGGACAGGCCCGTTAACTGCC 0.607 NA C||| 2156 0.430511 0.2216 0.6066 5008 , , NA 18652 0.4147 NA 0.5527 False NA ,,, NA NA NA 2504 0.4785 NA NA NA NA 0 C 1195,3211 413.9+/-336.6 172,851,1180 44 46 45 -1.6 0 6 dbSNP_79 45 4863,3737 613.7+/-396.1 1377,2109,814 no intron AARS2 NM_020745.2 1549,2960,1994 TT,TC,CC 43.4535,27.1221,46.5785 44270936 6058,6948 2203 4300 6503 SO:0001627 intron_variant AB033096 CCDS34464.1 6p21.1 2012-10-26 2012-10-26 2007-02-23 ENSG00000124608 ENSG00000124608 57505 6.1.1.7 Aminoacyl tRNA synthetases / Class II 21022 protein-coding gene gene with protein product alanine tRNA ligase 2, mitochondrial 612035 alanyl-tRNA synthetase like, alanyl-tRNA synthetase 2, mitochondrial (putative) AARSL NA 15779907, 21549344 Standard NM_020745 NM_020745 NA Approved KIAA1270, bA444E17.1 uc010jza.1 Q5JTZ9 OTTHUMG00000014766 ENST00000244571.4:c.2146-24G>A chr6.hg19:g.44270936C>T NA hg19 CCDS34464.1 0.02 6.541866 GCCxGTT COVERED NOVEL AARS2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040741.2 3 9.565532 KEEP 0 1 32 43 1484 CC 1 1 0 - 7 60 264 0 0 16.810987 178 60 6302 281 ENST00000244571.4 0.037838 1 SPATS1 221409 __UNKNOWN__ __UNKNOWN__ 6 44310606 44310606 __UNKNOWN__ 5'UTR SNP C C G rs883194 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:44310606C>G ENST00000288390.2 + 0 121 RP11-444E17.6_ENST00000505802.1_Intron|SPATS1_ENST00000323108.8_Intron Q496A3 SPAS1_HUMAN spermatogenesis associated, serine-rich 1 NA NA NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1) 14 all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) TGGATGGGGGCTGCAGCGAGC 0.667 NA G||| 1480 0.295527 0.2511 0.2666 5008 , , NA 14464 0.3938 NA 0.2356 False NA ,,, NA NA NA 2504 0.3364 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AK058171 CCDS4911.1 6p21.1 2003-08-08 ENSG00000249481 ENSG00000249481 221409 22957 protein-coding gene gene with protein product NA Standard NM_145026 NM_145026 NA Approved SPATA8, FLJ25442, SRSP1 uc021yzz.1 Q496A3 OTTHUMG00000014764 ENST00000288390.2:c.-227C>G chr6.hg19:g.44310606C>G NA Q496A2|Q496A5|Q96LJ0 hg19 CCDS4911.1 0.02 10.828112 GGGxTGC COVERED NOVEL SPATS1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040738.2 1 13.241469 KEEP 0 0 0 44 1518 CC 1 1 0 + 13 60 477 0 0 31.173282 262 60 9644 339 ENST00000288390.2 0.047273 1 SPATS1 221409 __UNKNOWN__ __UNKNOWN__ 6 44310691 44310691 __UNKNOWN__ 5'UTR SNP A A G rs883193 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:44310691A>G ENST00000288390.2 + 0 206 RP11-444E17.6_ENST00000505802.1_Intron|SPATS1_ENST00000323108.8_Intron Q496A3 SPAS1_HUMAN spermatogenesis associated, serine-rich 1 NA NA NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1) 14 all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) TGGAGGGAGTAAGGCTCCCGT 0.582 NA G||| 1494 0.298323 0.2572 0.2666 5008 , , NA 15008 0.3958 NA 0.2356 False NA ,,, NA NA NA 2504 0.3405 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AK058171 CCDS4911.1 6p21.1 2003-08-08 ENSG00000249481 ENSG00000249481 221409 22957 protein-coding gene gene with protein product NA Standard NM_145026 NM_145026 NA Approved SPATA8, FLJ25442, SRSP1 uc021yzz.1 Q496A3 OTTHUMG00000014764 ENST00000288390.2:c.-142A>G chr6.hg19:g.44310691A>G NA Q496A2|Q496A5|Q96LJ0 hg19 CCDS4911.1 0.02 18.838108 AGTxAGG COVERED NOVEL SPATS1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040738.2 2 24.366046 KEEP 0 0 0 81 2391 AA 1 1 0 + 25 60 887 0 0 59.265756 404 60 13828 623 ENST00000288390.2 0.058275 1 CDC5L 988 __UNKNOWN__ __UNKNOWN__ 6 44355284 44355284 __UNKNOWN__ 5'UTR SNP A A G rs201624851 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:44355284A>G ENST00000371477.3 + 0 23 NM_001253.3 NP_001244.1 Q99459 CDC5L_HUMAN cell division cycle 5-like NA NA cell cycle (GO:0007049)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Prp19 complex (GO:0000974) chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|WD40-repeat domain binding (GO:0071987) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4) 29 all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) TGTTTTGGACATGCGCGGGGC 0.537 NA A||| 16 0.00319489 0.0 0.0 5008 , , NA 19597 0.0149 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant D85423 CCDS4912.1 6p21.1 2013-01-17 2013-01-17 ENSG00000096401 ENSG00000096401 988 1743 protein-coding gene gene with protein product 602868 CDC5 (cell division cycle 5, S. pombe, homolog)-like, CDC5 cell division cycle 5-like (S. pombe) NA 9598309, 9038199 Standard NM_001253 NA Approved PCDC5RP, hCDC5, CEF1, CDC5 uc003oxl.3 Q99459 OTTHUMG00000014767 ENST00000371477.3:c.-277A>G chr6.hg19:g.44355284A>G NA Q76N46|Q99974 hg19 CCDS4912.1 0.02 7.494085 GACxTGC COVERED NOVEL CDC5L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040743.1 0 44.529815 KEEP 0 0 0 148 4593 AA 1 1 0 + 9 60 293 0 0 17.052281 225 60 8213 474 ENST00000371477.3 0.038462 1 CDC5L 988 __UNKNOWN__ __UNKNOWN__ 6 44355399 44355399 __UNKNOWN__ 5'UTR SNP G G T rs2297334 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:44355399G>T ENST00000371477.3 + 0 138 NM_001253.3 NP_001244.1 Q99459 CDC5L_HUMAN cell division cycle 5-like NA NA cell cycle (GO:0007049)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Prp19 complex (GO:0000974) chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|WD40-repeat domain binding (GO:0071987) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4) 29 all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) TATCTCGCGAGACTTGCTATT 0.552 NA G||| 1450 0.289537 0.2088 0.1571 5008 , , NA 20543 0.6032 NA 0.0855 False NA ,,, NA NA NA 2504 0.3793 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant D85423 CCDS4912.1 6p21.1 2013-01-17 2013-01-17 ENSG00000096401 ENSG00000096401 988 1743 protein-coding gene gene with protein product 602868 CDC5 (cell division cycle 5, S. pombe, homolog)-like, CDC5 cell division cycle 5-like (S. pombe) NA 9598309, 9038199 Standard NM_001253 NA Approved PCDC5RP, hCDC5, CEF1, CDC5 uc003oxl.3 Q99459 OTTHUMG00000014767 ENST00000371477.3:c.-162G>T chr6.hg19:g.44355399G>T NA Q76N46|Q99974 hg19 CCDS4912.1 0.02 14.794351 CGAxACT COVERED NOVEL CDC5L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040743.1 0 58.971925 KEEP 0 0 0 196 6929 GG 1 1 0 + 15 60 512 0 0 31.469852 340 60 12658 682 ENST00000371477.3 0.042254 1 CDC5L 988 __UNKNOWN__ __UNKNOWN__ 6 44371714 44371714 __UNKNOWN__ Silent SNP C C T rs6934058 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:44371714C>T ENST00000371477.3 + 6 1007 c.708C>T c.(706-708)gaC>gaT p.D236D NM_001253.3 NP_001244.1 Q99459 CDC5L_HUMAN cell division cycle 5-like 236 Nuclear localization signal. {ECO:0000255}. NA cell cycle (GO:0007049)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Prp19 complex (GO:0000974) chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|WD40-repeat domain binding (GO:0071987) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4) 29 all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) AAGCTCTTGACGCAGATTTCA 0.398 NA c||| 1485 0.296526 0.2201 0.1571 5008 , , NA 14421 0.6111 NA 0.0934 False NA ,,, NA NA NA 2504 0.3834 NA NA NA NA 0 T 932,3474 350.8+/-311.0 89,754,1360 67 70 69 708 1 1 6 dbSNP_116 69 745,7855 179.0+/-228.3 31,683,3586 no coding-synonymous CDC5L NM_001253.2 120,1437,4946 TT,TC,CC 8.6628,21.153,12.894 236/803 44371714 1677,11329 2203 4300 6503 SO:0001819 synonymous_variant D85423 CCDS4912.1 6p21.1 2013-01-17 2013-01-17 ENSG00000096401 ENSG00000096401 988 1743 protein-coding gene gene with protein product 602868 CDC5 (cell division cycle 5, S. pombe, homolog)-like, CDC5 cell division cycle 5-like (S. pombe) NA 9598309, 9038199 Standard NM_001253 NA Approved PCDC5RP, hCDC5, CEF1, CDC5 uc003oxl.3 Q99459 OTTHUMG00000014767 ENST00000371477.3:c.708C>T chr6.hg19:g.44371714C>T NA Q76N46|Q99974 hg19 CCDS4912.1 0.02 11.555304 TGAxGCA COVERED NOVEL CDC5L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040743.1 1 33.841324 KEEP 0 1 33 124 4229 CC 1 1 0 + 12 60 453 0 0 29.463449 271 60 9492 530 ENST00000371477.3 0.042403 1 SUPT3H 8464 __UNKNOWN__ __UNKNOWN__ 6 44796596 44796596 __UNKNOWN__ 3'UTR SNP C C T rs524492 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:44796596C>T ENST00000371459.1 - 0 2076 SUPT3H_ENST00000371460.1_3'UTR NM_001261823.1|NM_003599.3 NP_001248752.1|NP_003590.1 O75486 SUPT3_HUMAN suppressor of Ty 3 homolog (S. cerevisiae) NA NA chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366) cytoplasm (GO:0005737)|nucleus (GO:0005634)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276) transcription coactivator activity (GO:0003713) breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1) 12 TTTTTTGCAACTGAAGTTTAA 0.299 NA c||| 1631 0.325679 0.3623 0.3934 5008 , , NA 19504 0.25 NA 0.3052 False NA ,,, NA NA NA 2504 0.3272 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF069734 CCDS34465.1, CCDS34466.1, CCDS75464.1 6p21.1-p12.3 2008-05-15 2001-11-28 ENSG00000196284 ENSG00000196284 8464 11466 protein-coding gene gene with protein product 602947 suppressor of Ty (S.cerevisiae) 3 homolog NA 9674425, 9726987 Standard NM_181356 NM_003599 NA Approved SPT3, SPT3L uc003oxp.4 O75486 OTTHUMG00000014773 ENST00000371459.1:c.*957G>A chr6.hg19:g.44796596C>T NA A6NKG9|B2R9Q5|O76066|Q5TAV9|Q86VN7 hg19 CCDS34465.1 0.02 2.150496 CAAxTGA COVERED NOVEL SUPT3H-006 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000106911.2 1 5.116872 KEEP 0 0 0 17 623 CC 0.999366 0.998926 0 - 6 60 228 0 0 16.277335 78 60 2937 121 ENST00000371459.1 0.071429 0.999559 GPR116 221395 __UNKNOWN__ __UNKNOWN__ 6 46820597 46820597 __UNKNOWN__ 3'UTR SNP G G A rs369774129 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:46820597G>A ENST00000283296.7 - 0 5461 GPR116_ENST00000456426.2_3'UTR|GPR116_ENST00000265417.7_3'UTR|GPR116_ENST00000362015.4_3'UTR NM_001098518.1 NP_001091988.1 Q8IZF2 GP116_HUMAN G protein-coupled receptor 116 NA NA energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129) cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 Lung(136;0.192) AGAATACATAGGGAGCTATGC 0.343 NA G||| 12 0.00239617 0.0 0.0014 5008 , , NA 15580 0.0109 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NSCLC(59;410 1274 8751 36715 50546) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB018301 CCDS4919.1 6p12.3 2014-08-08 ENSG00000069122 ENSG00000069122 221395 -, GPCR / Class B : Orphans, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 19030 protein-coding gene gene with protein product NA 12435584 Standard NM_015234 NM_001098518 NA Approved DKFZp564O1923, KIAA0758 uc003oyo.3 Q8IZF2 OTTHUMG00000014793 ENST00000283296.7:c.*1132C>T chr6.hg19:g.46820597G>A NA O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2 hg19 CCDS4919.1 0.02 19.97978 ATAxGGA COVERED NOVEL GPR116-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040806.2 7 17.135042 KEEP 0 0 0 57 1994 GG 1 1 0 - 14 60 533 0 0 32.508978 466 60 17528 669 ENST00000283296.7 0.029167 1 GPR116 221395 __UNKNOWN__ __UNKNOWN__ 6 46821085 46821085 __UNKNOWN__ 3'UTR SNP C C G rs9357518 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:46821085C>G ENST00000283296.7 - 0 4973 GPR116_ENST00000456426.2_3'UTR|GPR116_ENST00000265417.7_3'UTR|GPR116_ENST00000362015.4_3'UTR NM_001098518.1 NP_001091988.1 Q8IZF2 GP116_HUMAN G protein-coupled receptor 116 NA NA energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129) cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 Lung(136;0.192) AAGAAGACATCAGGAAGATAC 0.343 NA C||| 1480 0.295527 0.2731 0.2824 5008 , , NA 18205 0.3611 NA 0.2117 False NA ,,, NA NA NA 2504 0.3538 NA NA NA NSCLC(59;410 1274 8751 36715 50546) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB018301 CCDS4919.1 6p12.3 2014-08-08 ENSG00000069122 ENSG00000069122 221395 -, GPCR / Class B : Orphans, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 19030 protein-coding gene gene with protein product NA 12435584 Standard NM_015234 NM_001098518 NA Approved DKFZp564O1923, KIAA0758 uc003oyo.3 Q8IZF2 OTTHUMG00000014793 ENST00000283296.7:c.*644G>C chr6.hg19:g.46821085C>G NA O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2 hg19 CCDS4919.1 0.02 19.129522 CATxAGG COVERED NOVEL GPR116-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040806.2 0 3.984366 KEEP 0 2 74 39 1314 CC 1 1 0 - 11 60 432 0 0 26.494355 396 60 15235 523 ENST00000283296.7 0.027027 1 GPR116 221395 __UNKNOWN__ __UNKNOWN__ 6 46826979 46826979 __UNKNOWN__ Silent SNP A A G rs9381487 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:46826979A>G ENST00000283296.7 - 17 2949 c.2661T>C c.(2659-2661)taT>taC p.Y887Y GPR116_ENST00000456426.2_Silent_p.Y745Y|GPR116_ENST00000265417.7_Silent_p.Y887Y|GPR116_ENST00000362015.4_Silent_p.Y887Y|GPR116_ENST00000545669.1_Silent_p.Y316Y NM_001098518.1 NP_001091988.1 Q8IZF2 GP116_HUMAN G protein-coupled receptor 116 887 NA energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129) cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 Lung(136;0.192) AGTTTTCTAGATAGCTCTTGT 0.463 NA A||| 1609 0.321286 0.3714 0.2839 5008 , , NA 20789 0.3621 NA 0.1998 False NA ,,, NA NA NA 2504 0.363 NA NA NA NSCLC(59;410 1274 8751 36715 50546) NA 0 A , 1464,2942 472.6+/-356.4 224,1016,963 79 79 79 2661,2661 1.3 0 6 dbSNP_119 79 1784,6816 320.1+/-314.5 186,1412,2702 no coding-synonymous,coding-synonymous GPR116 NM_001098518.1,NM_015234.4 , 410,2428,3665 GG,GA,AA 20.7442,33.2274,24.9731 , 887/1347,887/1347 46826979 3248,9758 2203 4300 6503 SO:0001819 synonymous_variant AB018301 CCDS4919.1 6p12.3 2014-08-08 ENSG00000069122 ENSG00000069122 221395 -, GPCR / Class B : Orphans, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 19030 protein-coding gene gene with protein product NA 12435584 Standard NM_015234 NM_001098518 NA Approved DKFZp564O1923, KIAA0758 uc003oyo.3 Q8IZF2 OTTHUMG00000014793 ENST00000283296.7:c.2661T>C chr6.hg19:g.46826979A>G NA O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2 hg19 CCDS4919.1 0.02 17.772711 TAGxTAG COVERED NOVEL GPR116-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040806.2 2 9.02745 KEEP 0 0 0 30 945 AA 0.999997 0.999997 0 - 14 60 521 0 0 32.22711 400 60 14475 519 ENST00000283296.7 0.033816 1 GPR116 221395 __UNKNOWN__ __UNKNOWN__ 6 46851873 46851873 __UNKNOWN__ Missense_Mutation SNP T T C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:46851873T>C ENST00000283296.7 - 5 752 c.464A>G c.(463-465)aAa>aGa p.K155R GPR116_ENST00000456426.2_Missense_Mutation_p.K155R|GPR116_ENST00000265417.7_Missense_Mutation_p.K155R|GPR116_ENST00000362015.4_Missense_Mutation_p.K155R NM_001098518.1 NP_001091988.1 Q8IZF2 GP116_HUMAN G protein-coupled receptor 116 155 NA energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129) cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 Lung(136;0.192) AGGCAGTTCTTTAAGGCAACT 0.488 NA NA NA NA NA NA NA NA NA NA NSCLC(59;410 1274 8751 36715 50546) NA 0 136 121 126 NA NA 6 NA 46851873 2203 4300 6503 SO:0001583 missense AB018301 CCDS4919.1 6p12.3 2014-08-08 ENSG00000069122 ENSG00000069122 221395 -, GPCR / Class B : Orphans, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 19030 protein-coding gene gene with protein product NA 12435584 Standard NM_015234 NM_001098518 NA Approved DKFZp564O1923, KIAA0758 uc003oyo.3 Q8IZF2 OTTHUMG00000014793 ENST00000283296.7:c.464A>G chr6.hg19:g.46851873T>C ENSP00000283296:p.Lys155Arg NA O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2 hg19 CCDS4919.1 0.02 7.158959 TCTxTAA COVERED . . . . . . . . . . T 7.263 0.605518 0.14002 . . ENSG00000069122 ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000265417 T;T;T;T 0.28069 1.66;2.04;1.63;1.66 5.17 2.58 0.30949 . 0.207636 0.33792 N 0.004554 T 0.11580 0.0282 L 0.53249 1.67 0.80722 D 1 B;B;B 0.30851 0.067;0.297;0.067 B;B;B 0.31751 0.037;0.135;0.037 T 0.04946 -1.0916 10 0.27785 T 0.31 -20.0676 4.9506 0.14011 0.0:0.0965:0.1863:0.7172 . 155;155;155 A8K0D8;Q8IZF2-3;Q8IZF2 .;.;GP116_HUMAN R 155 ENSP00000283296:K155R;ENSP00000354563:K155R;ENSP00000412866:K155R;ENSP00000265417:K155R ENSP00000265417:K155R K - 2 0 GPR116 46959832 0.997000 0.39634 0.980000 0.43619 0.215000 0.24574 1.362000 0.34148 0.914000 0.36822 0.533000 0.62120 AAA NOVEL GPR116-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040806.2 0 7.221581 KEEP 0 0 0 24 760 TT 0.999909 0.999909 0 - 7 60 265 0 0 17.359573 153 60 5463 215 ENST00000283296.7 0.04375 1 CD2AP 23607 __UNKNOWN__ __UNKNOWN__ 6 47594722 47594722 __UNKNOWN__ 3'UTR SNP G G A rs719856 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:47594722G>A ENST00000359314.5 + 0 5135 NM_012120.2 NP_036252.1 Q9Y5K6 CD2AP_HUMAN CD2-associated protein NA NA mitotic nuclear division (GO:0007067)|negative regulation of transforming growth factor beta1 production (GO:0032911)|positive regulation of protein localization to nucleus (GO:1900182)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of receptor-mediated endocytosis (GO:0048259)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|substrate-dependent cell migration, cell extension (GO:0006930)|vesicle organization (GO:0016050) actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726) SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200) kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 20 Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138) TAACTGTTACGTAATGCAGTT 0.299 NA G||| 1561 0.311701 0.1611 0.4265 5008 , , NA 15480 0.6171 NA 0.2386 False NA ,,, NA NA NA 2504 0.1943 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF146277 CCDS34472.1 6p12 2008-02-05 ENSG00000198087 ENSG00000198087 23607 14258 protein-coding gene gene with protein product 604241 NA 10339567 Standard NM_012120 NA Approved CMS uc003oyw.3 Q9Y5K6 OTTHUMG00000014799 ENST00000359314.5:c.*2759G>A chr6.hg19:g.47594722G>A NA A6NL34|Q5VYA3|Q9UG97 hg19 CCDS34472.1 0.02 11.43665 TACxTAA COVERED NOVEL CD2AP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040817.2 3 11.769811 KEEP 0 1 22 47 1597 GG 1 1 0 + 14 60 522 0 0 35.479707 235 60 8348 354 ENST00000359314.5 0.056225 1 GPR111 222611 __UNKNOWN__ __UNKNOWN__ 6 47649265 47649265 __UNKNOWN__ Missense_Mutation SNP T T A rs17541107 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:47649265T>A ENST00000507065.1 + 6 1044 c.766T>A c.(766-768)Ttg>Atg p.L256M GPR111_ENST00000398742.2_Missense_Mutation_p.L256M|GPR111_ENST00000296862.1_Missense_Mutation_p.L324M Q8IZF7 GP111_HUMAN G protein-coupled receptor 111 324 NA G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 TGGGAGAGTGTTGATCAGCAG 0.418 NA T||| 1991 0.397564 0.236 0.5331 5008 , , NA 22240 0.6915 NA 0.3678 False NA ,,, NA NA NA 2504 0.2474 NA NA NA NA 0 T MET/LEU 1062,2724 134,794,965 154 144 147 766 -6.7 0 6 dbSNP_123 147 2868,5372 508,1852,1760 yes missense GPR111 NM_153839.6 15 642,2646,2725 AA,AT,TT 34.8058,28.0507,32.6792 possibly-damaging 256/643 47649265 3930,8096 1893 4120 6013 SO:0001583 missense AB065684 6p12.3 2014-08-08 ENSG00000164393 ENSG00000164393 222611 -, GPCR / Class B : Orphans 18991 protein-coding gene gene with protein product NA 12435584 Standard NM_153839 NM_153839 NA Approved hGPCR35, PGR20 uc003oyy.3 Q8IZF7 OTTHUMG00000046168 ENST00000507065.1:c.766T>A chr6.hg19:g.47649265T>A ENSP00000422934:p.Leu256Met NA Q2PNZ1|Q86SL6|Q8NGU5|Q8TDT5 hg19 0.02 13.165529 GTGxTGA COVERED 969 0.44368131868131866 110 0.22357723577235772 172 0.47513812154696133 401 0.701048951048951 286 0.37730870712401055 T 13.60 2.286730 0.40494 0.280507 0.348058 ENSG00000164393 ENST00000507065;ENST00000296862;ENST00000398742 T;T;T 0.44881 0.91;0.91;0.91 5.37 -6.69 0.01772 . 0.636305 0.13081 N 0.415293 T 0.33411 0.0862 M 0.74881 2.28 0.80722 P 0.0 D;P 0.55800 0.973;0.954 P;P 0.56823 0.807;0.646 T 0.32188 -0.9916 9 0.38643 T 0.18 . 9.618 0.39704 0.0852:0.7102:0.0927:0.1119 rs17541107;rs52808586;rs61436836;rs17541107 256;324 Q8IZF7-2;Q8IZF7 .;GP111_HUMAN M 256;324;256 ENSP00000422934:L256M;ENSP00000296862:L324M;ENSP00000381727:L256M ENSP00000296862:L324M L + 1 2 GPR111 47757224 0.000000 0.05858 0.000000 0.03702 0.822000 0.46500 -1.302000 0.02746 -1.925000 0.01063 -0.472000 0.04984 TTG NOVEL GPR111-003 NOVEL not_organism_supported|basic protein_coding NA protein_coding OTTHUMT00000358929.1 2 7.519924 KEEP 0 0 0 25 776 TT 0.999931 0.999931 0 + 17 60 630 0 0 41.634165 331 60 11729 443 ENST00000507065.1 0.048851 1 GPR115 221393 __UNKNOWN__ __UNKNOWN__ 6 47675922 47675922 __UNKNOWN__ Intron SNP C C T rs16876334 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:47675922C>T ENST00000283303.2 + 3 351 GPR115_ENST00000371220.1_Intron|GPR115_ENST00000327753.3_Intron NM_153838.3 NP_722580.3 Q8IZF3 GP115_HUMAN G protein-coupled receptor 115 NA NA G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 52 AGCAGAGTCCCACAGTAAAGA 0.428 NA C||| 962 0.192093 0.003 0.3343 5008 , , NA 21103 0.5575 NA 0.0547 False NA ,,, NA NA NA 2504 0.1115 NA NA NA GBM(22;431 510 9010 26644 32828) NA 0 C 76,4330 64.1+/-101.4 1,74,2128 39 40 40 1.3 0 6 dbSNP_123 40 434,8166 130.2+/-188.1 12,410,3878 no intron GPR115 NM_153838.3 13,484,6006 TT,TC,CC 5.0465,1.7249,3.9213 47675922 510,12496 2203 4300 6503 SO:0001627 intron_variant AK095395 CCDS4922.2 6p12.3 2014-08-08 ENSG00000153294 ENSG00000153294 221393 -, GPCR / Class B : Orphans 19011 protein-coding gene gene with protein product 614268 NA 12435584 Standard NM_153838 NM_153838 NA Approved FLJ38076, PGR18 uc003oza.1 Q8IZF3 OTTHUMG00000014800 ENST00000283303.2:c.94-38C>T chr6.hg19:g.47675922C>T NA B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6 hg19 CCDS4922.2 0.02 4.221227 TCCxACA COVERED NOVEL GPR115-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040819.2 0 6.621177 KEEP 0 0 0 22 764 CC 0.999879 0.999879 0 + 10 60 370 0 0 26.067277 132 60 4816 195 ENST00000283303.2 0.070423 1 GPR115 221393 __UNKNOWN__ __UNKNOWN__ 6 47686235 47686235 __UNKNOWN__ Intron SNP C C A rs386700907|rs11754756 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:47686235C>A ENST00000283303.2 + 9 2349 GPR115_ENST00000371220.1_Intron|GPR115_ENST00000327753.3_Intron NM_153838.3 NP_722580.3 Q8IZF3 GP115_HUMAN G protein-coupled receptor 115 NA NA G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 52 GTCAATCCACCAATGCCCCTT 0.403 NA C||| 1492 0.297923 0.174 0.4669 5008 , , NA 18923 0.5595 NA 0.2525 False NA ,,, NA NA NA 2504 0.1227 NA NA NA GBM(22;431 510 9010 26644 32828) NA 0 C 297,1087 31,235,426 44 36 38 -0.4 0 6 dbSNP_120 38 723,2457 93,537,960 no intron GPR115 NM_153838.3 124,772,1386 AA,AC,CC 22.7358,21.4595,22.3488 47686235 1020,3544 692 1590 2282 SO:0001627 intron_variant AK095395 CCDS4922.2 6p12.3 2014-08-08 ENSG00000153294 ENSG00000153294 221393 -, GPCR / Class B : Orphans 19011 protein-coding gene gene with protein product 614268 NA 12435584 Standard NM_153838 NM_153838 NA Approved FLJ38076, PGR18 uc003oza.1 Q8IZF3 OTTHUMG00000014800 ENST00000283303.2:c.2085+54C>A chr6.hg19:g.47686235C>A NA B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6 hg19 CCDS4922.2 0.02 37.060183 CACxAAT COVERED NOVEL GPR115-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040819.2 10 21.971923 KEEP 0 0 0 73 2602 CC 1 1 0 + 45 60 1644 0 0 109.243428 814 60 30439 1108 ENST00000283303.2 0.052386 1 CRISP1 167 __UNKNOWN__ __UNKNOWN__ 6 49802697 49802697 __UNKNOWN__ 3'UTR SNP C C T rs780556 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:49802697C>T ENST00000335847.4 - 0 1183 CRISP1_ENST00000355791.2_3'UTR|CRISP1_ENST00000507853.1_3'UTR|CRISP1_ENST00000505118.1_3'UTR|CRISP1_ENST00000329411.5_3'UTR|CRISP1_ENST00000536021.1_3'UTR NM_001131.2 NP_001122.2 P54107 CRIS1_HUMAN cysteine-rich secretory protein 1 NA NA binding of sperm to zona pellucida (GO:0007339)|fusion of sperm to egg plasma membrane (GO:0007342)|regulation of acrosome reaction (GO:0060046) extracellular space (GO:0005615)|nucleus (GO:0005634) calcium channel regulator activity (GO:0005246) endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1) 27 Lung NSC(77;0.0358) ATGGGGAAGGCGGGGGTGGGA 0.363 NA C||| 3341 0.667133 0.6641 0.6571 5008 , , NA 16739 0.9127 NA 0.4692 False NA ,,, NA NA NA 2504 0.6288 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D38451 CCDS4931.1, CCDS4932.1 6p21.2-p21.1 2008-02-05 2003-09-03 2003-09-05 ENSG00000124812 ENSG00000124812 167 304 protein-coding gene gene with protein product 601193 acidic epididymal glycoprotein-like 1 AEGL1 NA 8838800 Standard NM_001131 NM_001131 NA Approved CRISP-1, ARP, HUMARP, HSCRISP1D, HSCRISP1G uc003ozw.2 P54107 OTTHUMG00000014827 ENST00000335847.4:c.*332G>A chr6.hg19:g.49802697C>T NA B5BU98|O00698|Q13248|Q14082|Q96SF6 hg19 CCDS4931.1 0.02 4.163969 AGGxGGG COVERED NOVEL CRISP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040875.2 2 4.514498 KEEP 0 0 0 15 512 CC 0.99649 0.99649 0 - 9 60 319 0 0 22.094949 118 60 4067 171 ENST00000335847.4 0.070866 1 TFAP2D 83741 __UNKNOWN__ __UNKNOWN__ 6 50683009 50683009 __UNKNOWN__ Missense_Mutation SNP T T C rs78648104 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:50683009T>C ENST00000008391.3 + 2 448 c.220T>C c.(220-222)Ttc>Ctc p.F74L NM_172238.3 NP_758438.2 transcription factor AP-2 delta (activating enhancer binding protein 2 delta) NA NA NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1) 60 Lung NSC(77;0.0334) CCACCAGTCCTTCCATTACGA 0.577 NA T||| 398 0.0794728 0.0045 0.0274 5008 , , NA 16330 0.1815 NA 0.1173 False NA ,,, NA NA NA 2504 0.0736 NA NA NA NA 0 T LEU/PHE 82,4324 71.4+/-109.4 0,82,2121 236 191 206 220 5.1 1 6 dbSNP_131 206 752,7848 180.8+/-229.6 28,696,3576 yes missense TFAP2D NM_172238.3 22 28,778,5697 CC,CT,TT 8.7442,1.8611,6.4124 benign 74/453 50683009 834,12172 2203 4300 6503 SO:0001583 missense AY028376 CCDS4933.1 6p12.3 2008-02-05 2004-10-26 2004-10-27 ENSG00000008197 83741 15581 protein-coding gene gene with protein product 610161 transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1 TFAP2BL1 NA 11733187 Standard NM_172238 NM_172238 NA Approved uc003paf.3 Q7Z6R9 ENST00000008391.3:c.220T>C chr6.hg19:g.50683009T>C ENSP00000008391:p.Phe74Leu NA hg19 CCDS4933.1 0.02 37.242273 TCCxTCC COVERED 203 0.09294871794871795 0 0.0 7 0.019337016574585635 108 0.1888111888111888 88 0.11609498680738786 T 11.80 1.745353 0.30955 0.018611 0.087442 ENSG00000008197 ENST00000008391 D 0.96940 -4.18 5.07 5.07 0.68467 . 0.307122 0.36854 N 0.002363 D 0.92708 0.7682 N 0.08118 0 0.09310 P 0.99999999396351 P 0.43392 0.805 P 0.57776 0.827 D 0.93611 0.6939 9 0.33141 T 0.24 -19.6224 15.1241 0.72469 0.0:0.0:0.0:1.0 . 74 Q7Z6R9 AP2D_HUMAN L 74 ENSP00000008391:F74L ENSP00000008391:F74L F + 1 0 TFAP2D 50790968 1.000000 0.71417 1.000000 0.80357 0.995000 0.86356 7.816000 0.86201 2.022000 0.59522 0.533000 0.62120 TTC NOVEL TFAP2D-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040881.1 7 21.365017 KEEP 0 0 0 71 2247 TT 1 1 0 + 23 60 885 0 0 53.866332 804 60 29317 1077 ENST00000008391.3 0.027811 1 TFAP2B 7021 __UNKNOWN__ __UNKNOWN__ 6 50786571 50786571 __UNKNOWN__ 5'UTR SNP G G A rs2272903 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:50786571G>A ENST00000393655.3 + 0 136 TFAP2B_ENST00000263046.4_5'UTR NM_003221.3 NP_003212.2 Q92481 AP2B_HUMAN transcription factor AP-2 beta (activating enhancer binding protein 2 beta) NA NA aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485) nucleus (GO:0005634) chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714) NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1) 40 Lung NSC(77;0.156) AGACAGCGGAGTCCTGAGAAG 0.483 NA G||| 1060 0.211661 0.3306 0.1455 5008 , , NA 14577 0.2083 NA 0.1262 False NA ,,, NA NA NA 2504 0.1892 NA NA NA Pancreas(116;1373 2332 5475 10752) NA 0 G 1281,3125 434.9+/-344.1 199,883,1121 70 62 64 4.5 1 6 dbSNP_100 64 941,7659 207.2+/-249.0 48,845,3407 no utr-5 TFAP2B NM_003221.3 247,1728,4528 AA,AG,GG 10.9419,29.074,17.0844 50786571 2222,10784 2203 4300 6503 SO:0001623 5_prime_UTR_variant X95694 CCDS4934.2 6p12 2008-02-05 2001-11-28 ENSG00000008196 ENSG00000008196 7021 11743 protein-coding gene gene with protein product 601601 transcription factor AP-2 beta (activating enhancer-binding protein 2 beta) NA 7555706, 8661133 Standard NM_003221 NM_003221 NA Approved AP2-B uc003pag.3 Q92481 OTTHUMG00000014836 ENST00000393655.3:c.-34G>A chr6.hg19:g.50786571G>A NA Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3 hg19 CCDS4934.2 0.02 24.61238 GGAxTCC COVERED NOVEL TFAP2B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040886.3 2 17.457315 KEEP 0 0 0 58 2090 GG 1 1 0 + 18 60 647 0 0 37.930859 603 60 22707 847 ENST00000393655.3 0.028986 1 PKHD1 5314 __UNKNOWN__ __UNKNOWN__ 6 51491884 51491884 __UNKNOWN__ Missense_Mutation SNP T T C rs4715227 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:51491884T>C ENST00000371117.3 - 66 11971 c.11696A>G c.(11695-11697)cAg>cGg p.Q3899R NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 3899 NA Q -> R (in dbSNP:rs4715227). {ECO:0000269|PubMed:12846734, ECO:0000269|PubMed:12874454}. cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337) anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372) receptor activity (GO:0004872) NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) ATTATTAGTCTGGGATTCAGG 0.388 NA T||| 2771 0.553315 0.4569 0.5937 5008 , , NA 18238 0.5813 NA 0.5358 False NA ,,, NA NA NA 2504 0.6442 NA NA NA NA 0 T ARG/GLN 2120,2286 577.4+/-384.4 528,1064,611 241 243 243 11696 4 1 6 dbSNP_111 243 4690,3910 605.3+/-394.9 1270,2150,880 yes missense PKHD1 NM_138694.3 43 1798,3214,1491 CC,CT,TT 45.4651,48.1162,47.6396 benign 3899/4075 51491884 6810,6196 2203 4300 6503 SO:0001583 missense AF480064 CCDS4935.1, CCDS4936.1 6p21.2-p12 2012-11-26 2003-04-16 ENSG00000170927 ENSG00000170927 5314 9016 protein-coding gene gene with protein product tigmin, polyductin, fibrocystin 606702 TIG multiple domains 1 TIGM1 NA 9503014 Standard NM_138694 NM_138694 NA Approved ARPKD, FCYT uc003pah.1 P08F94 OTTHUMG00000014841 ENST00000371117.3:c.11696A>G chr6.hg19:g.51491884T>C ENSP00000360158:p.Gln3899Arg NA Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9 hg19 CCDS4935.1 0.02 12.56351 GTCxGGG COVERED 1181 0.5407509157509157 222 0.45121951219512196 213 0.5883977900552486 332 0.5804195804195804 414 0.5461741424802111 T 10.02 1.237296 0.22711 0.481162 0.545349 ENSG00000170927 ENST00000371117 D 0.87809 -2.3 5.19 3.99 0.46301 . 0.707453 0.12437 N 0.469060 T 0.75925 0.3916 L 0.59436 1.845 0.09310 P 0.99999999935508 B 0.30793 0.295 B 0.31686 0.134 T 0.72151 -0.4377 9 0.66056 D 0.02 . 8.2376 0.31636 0.1768:0.0:0.0:0.8232 rs4715227;rs52814903;rs56452478;rs58387623;rs4715227 3899 P08F94 PKHD1_HUMAN R 3899 ENSP00000360158:Q3899R ENSP00000360158:Q3899R Q - 2 0 PKHD1 51599843 0.981000 0.34729 0.954000 0.39281 0.169000 0.22640 1.965000 0.40471 1.048000 0.40298 0.533000 0.62120 CAG NOVEL PKHD1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000040893.1 1 10.230922 KEEP 0 0 0 34 1076 TT 0.999998 0.999998 0 - 12 60 423 0 0 26.088487 292 60 11018 412 ENST00000371117.3 0.039474 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 52051109 52051109 __UNKNOWN__ IGR SNP G G A rs8193037 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:52051109G>A NA NA MIR133BHG (35192 upstream) : IL17A (75 downstream) NA NA NA ACTGCGACACGCCACGTAAGT 0.478 NA G||| 159 0.0317492 0.0038 0.0605 5008 , , NA 22086 0.0933 NA 0.0159 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.52051109G>A NA hg19 0.02 8.224273 CACxCCA COVERED NOVEL 0 0 3.912107 KEEP 0 0 0 13 424 GG 0.994391 0.994391 0 7 60 248 0 0 14.685363 213 60 6895 241 0.031818 1 MCM3 4172 __UNKNOWN__ __UNKNOWN__ 6 52141735 52141735 __UNKNOWN__ Intron SNP A A G rs17246359 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:52141735A>G ENST00000229854.7 - 8 1242 MCM3_ENST00000596288.1_Intron|MCM3_ENST00000419835.2_Intron|MCM3_ENST00000476448.1_Intron P25205 MCM3_HUMAN minichromosome maintenance complex component 3 NA NA DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278) alpha DNA polymerase:primase complex (GO:0005658)|centrosome (GO:0005813)|intracellular membrane-bounded organelle (GO:0043231)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471) ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678) endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 20 Lung NSC(77;0.0931) CCATTGCTGAATACTCAGTCC 0.398 NA A||| 384 0.0766773 0.0113 0.134 5008 , , NA 20412 0.1181 NA 0.0934 False NA ,,, NA NA NA 2504 0.0644 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X62153 CCDS4940.1, CCDS4940.2, CCDS75468.1 6p12 2008-02-05 2007-04-04 ENSG00000112118 ENSG00000112118 4172 6945 protein-coding gene gene with protein product 602693 minichromosome maintenance deficient (S. cerevisiae) 3, MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) NA 1549468 Standard NM_002388 NA Approved uc011dwu.2 P25205 OTTHUMG00000014844 ENST00000229854.7:c.1165+129T>C chr6.hg19:g.52141735A>G NA B4DWW4|Q92660|Q9BTR3|Q9NUE7 hg19 0.02 -0.421048 TGAxTAC COVERED NOVEL MCM3-006 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000470784.1 0 3.611484 KEEP 0 0 0 12 401 AA 0.993634 0.942364 0 - 3 60 102 0 0 6.760338 45 60 1633 67 ENST00000229854.7 0.0625 0.948402 MCM3 4172 __UNKNOWN__ __UNKNOWN__ 6 52148025 52148025 __UNKNOWN__ Intron SNP T T C rs9474191 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:52148025T>C ENST00000229854.7 - 2 268 MCM3_ENST00000596288.1_Intron|MCM3_ENST00000419835.2_Intron P25205 MCM3_HUMAN minichromosome maintenance complex component 3 NA NA DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278) alpha DNA polymerase:primase complex (GO:0005658)|centrosome (GO:0005813)|intracellular membrane-bounded organelle (GO:0043231)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471) ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678) endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 20 Lung NSC(77;0.0931) TGAGAGGCTGTTCCAATCTGG 0.473 NA T||| 566 0.113019 0.0983 0.0403 5008 , , NA 17172 0.2946 NA 0.0209 False NA ,,, NA NA NA 2504 0.092 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X62153 CCDS4940.1, CCDS4940.2, CCDS75468.1 6p12 2008-02-05 2007-04-04 ENSG00000112118 ENSG00000112118 4172 6945 protein-coding gene gene with protein product 602693 minichromosome maintenance deficient (S. cerevisiae) 3, MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) NA 1549468 Standard NM_002388 NA Approved uc011dwu.2 P25205 OTTHUMG00000014844 ENST00000229854.7:c.191+66A>G chr6.hg19:g.52148025T>C NA B4DWW4|Q92660|Q9BTR3|Q9NUE7 hg19 0.02 6.243152 CTGxTCC COVERED NOVEL MCM3-006 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000470784.1 0 5.712711 KEEP 0 0 0 19 517 TT 0.99986 0.99986 0 - 6 60 224 0 0 14.121944 156 60 5396 191 ENST00000229854.7 0.037037 1 PAQR8 85315 __UNKNOWN__ __UNKNOWN__ 6 52272313 52272313 __UNKNOWN__ 3'UTR SNP A A G rs1297 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:52272313A>G ENST00000442253.2 + 0 4476 PAQR8_ENST00000360726.3_3'UTR NM_133367.4 NP_588608.1 Q8TEZ7 MPRB_HUMAN progestin and adipoQ receptor family member VIII NA NA multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|response to steroid hormone (GO:0048545)|steroid hormone mediated signaling pathway (GO:0043401) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707) endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2) 17 Lung NSC(77;0.0875) CCTGTTCACAAAAAGTACCTT 0.388 NA A||| 588 0.117412 0.208 0.1009 5008 , , NA 17972 0.0337 NA 0.1421 False NA ,,, NA NA NA 2504 0.0675 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF347029 CCDS4941.1 6p12 2012-08-10 2005-05-20 2005-05-20 ENSG00000170915 ENSG00000170915 85315 15708 protein-coding gene gene with protein product 607780 chromosome 6 open reading frame 33 C6orf33 NA 11676489, 12574519 Standard NM_133367 NM_133367 NA Approved LMPB1, MPRB uc003pao.4 Q8TEZ7 OTTHUMG00000014846 ENST00000442253.2:c.*3237A>G chr6.hg19:g.52272313A>G NA B2RCF6|Q86WL0|Q8N6D3|Q9HD02 hg19 CCDS4941.1 0.02 6.259271 ACAxAAA COVERED NOVEL PAQR8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040903.2 6 12.938803 KEEP 0 0 0 43 1389 AA 1 1 0 + 7 60 257 0 0 16.161634 175 60 6244 282 ENST00000442253.2 0.038462 1 EFHC1 114327 __UNKNOWN__ __UNKNOWN__ 6 52303291 52303291 __UNKNOWN__ Missense_Mutation SNP C C T rs3804506 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:52303291C>T ENST00000371068.5 + 3 578 c.475C>T c.(475-477)Cgg>Tgg p.R159W EFHC1_ENST00000491749.1_3'UTR|EFHC1_ENST00000538167.1_Missense_Mutation_p.R140W|EFHC1_ENST00000433625.2_Missense_Mutation_p.R68W NM_018100.3 NP_060570.2 Q5JVL4 EFHC1_HUMAN EF-hand domain (C-terminal) containing 1 159 DM10 1. {ECO:0000255|PROSITE- ProRule:PRU00665}. NA R -> W (no effect on cell death; binds to CACNA1E; dbSNP:rs3804506). {ECO:0000269|PubMed:15258581, ECO:0000269|PubMed:17159113}. axoneme (GO:0005930)|neuronal cell body (GO:0043025) calcium ion binding (GO:0005509)|protein C-terminus binding (GO:0008022) breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 27 Lung NSC(77;0.109) CAAGAATGACCGGGGTGACCA 0.428 NA C||| 345 0.0688898 0.0469 0.0821 5008 , , NA 18356 0.0347 NA 0.1312 False NA ,,, NA NA NA 2504 0.0603 NA NA NA NA 0 C TRP/ARG,TRP/ARG 248,4158 140.4+/-175.9 8,232,1963 57 61 59 418,475 2.7 0.4 6 dbSNP_107 59 1057,7543 222.9+/-259.8 64,929,3307 yes missense,missense EFHC1 NM_001172420.1,NM_018100.3 101,101 72,1161,5270 TT,TC,CC 12.2907,5.6287,10.0338 possibly-damaging,possibly-damaging 140/622,159/641 52303291 1305,11701 2203 4300 6503 SO:0001583 missense AK001328 CCDS4942.1, CCDS55021.1 6p12.3 2014-02-04 ENSG00000096093 ENSG00000096093 114327 EF-hand domain containing 16406 protein-coding gene gene with protein product myoclonin-1 608815 epilepsy, juvenile myoclonic 1 EJM1, EJM NA 15258581 Standard NM_018100 NM_018100 NA Approved FLJ10466 uc003pap.4 Q5JVL4 OTTHUMG00000014848 ENST00000371068.5:c.475C>T chr6.hg19:g.52303291C>T ENSP00000360107:p.Arg159Trp NA B4DMU3|F5GZD8|Q5XKM4|Q6E1U7|Q6E1U8|Q8WUL2|Q9NVW6 hg19 CCDS4942.1 0.02 24.637678 GACxGGG COVERED 184 0.08424908424908426 36 0.07317073170731707 36 0.09944751381215469 14 0.024475524475524476 98 0.12928759894459102 C 16.30 3.085555 0.55861 0.056287 0.122907 ENSG00000096093 ENST00000371068;ENST00000433625;ENST00000538167 T;T;T 0.69806 -0.18;-0.43;-0.39 5.56 2.71 0.32032 Uncharacterised domain DM10 (2); 0.974993 0.08503 N 0.936074 T 0.52964 0.1767 M 0.69823 2.125 0.09310 N 1 D;D;D 0.63046 0.992;0.991;0.958 P;P;B 0.49047 0.599;0.462;0.394 T 0.45789 -0.9237 10 0.54805 T 0.06 -4.6733 4.3005 0.10922 0.2326:0.3633:0.3313:0.0728 rs3804506;rs61477451;rs3804506 140;68;159 F5GZD8;B7Z2S4;Q5JVL4 .;.;EFHC1_HUMAN W 159;68;140 ENSP00000360107:R159W;ENSP00000416492:R68W;ENSP00000444521:R140W ENSP00000360107:R159W R + 1 2 EFHC1 52411250 0.000000 0.05858 0.433000 0.26760 0.997000 0.91878 0.994000 0.29693 0.243000 0.21327 0.655000 0.94253 CGG NOVEL EFHC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040905.2 4 30.99798 KEEP 0 0 0 103 3489 CC 1 1 0 + 17 60 627 0 0 37.737327 545 60 19214 835 ENST00000371068.5 0.030249 1 TRAM2 9697 __UNKNOWN__ __UNKNOWN__ 6 52367677 52367677 __UNKNOWN__ 3'UTR SNP G G A rs41273844 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:52367677G>A ENST00000182527.3 - 0 1430 EFHC1_ENST00000433625.2_Intron NM_012288.3 NP_036420.1 Q15035 TRAM2_HUMAN translocation associated membrane protein 2 NA NA collagen biosynthetic process (GO:0032964)|protein transport (GO:0015031) integral component of membrane (GO:0016021) endometrium(3)|large_intestine(1)|lung(7)|prostate(1)|skin(1) 13 Lung NSC(77;0.109) TAAGGCAAGAGACAGAGCAAG 0.498 NA G||| 998 0.199281 0.2753 0.1859 5008 , , NA 19677 0.0744 NA 0.2704 False NA ,,, NA NA NA 2504 0.1616 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D31762 CCDS34477.1 6p21.1-p12 2008-02-05 ENSG00000065308 ENSG00000065308 9697 16855 protein-coding gene gene with protein product 608485 NA 7584044, 10594243 Standard NM_012288 NM_012288 NA Approved KIAA0057 uc003paq.3 Q15035 OTTHUMG00000014850 ENST00000182527.3:c.*318C>T chr6.hg19:g.52367677G>A NA A8K6T6 hg19 CCDS34477.1 0.02 6.090591 AGAxACA COVERED NOVEL TRAM2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040910.1 0 4.750822 KEEP 0 1 32 27 971 GG 0.999997 0.999997 0 - 7 60 254 0 0 16.126208 160 60 5997 238 ENST00000182527.3 0.041916 1 TRAM2 9697 __UNKNOWN__ __UNKNOWN__ 6 52387719 52387719 __UNKNOWN__ Intron SNP T T C rs17664241 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:52387719T>C ENST00000182527.3 - 3 184 EFHC1_ENST00000433625.2_Missense_Mutation_p.F539S NM_012288.3 NP_036420.1 Q15035 TRAM2_HUMAN translocation associated membrane protein 2 NA NA collagen biosynthetic process (GO:0032964)|protein transport (GO:0015031) integral component of membrane (GO:0016021) endometrium(3)|large_intestine(1)|lung(7)|prostate(1)|skin(1) 13 Lung NSC(77;0.109) GCCTTTACATTTCCCAGTCCT 0.507 NA T||| 640 0.127796 0.0091 0.1542 5008 , , NA 18567 0.0694 NA 0.2744 False NA ,,, NA NA NA 2504 0.1789 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D31762 CCDS34477.1 6p21.1-p12 2008-02-05 ENSG00000065308 ENSG00000065308 9697 16855 protein-coding gene gene with protein product 608485 NA 7584044, 10594243 Standard NM_012288 NM_012288 NA Approved KIAA0057 uc003paq.3 Q15035 OTTHUMG00000014850 ENST00000182527.3:c.185-6184A>G chr6.hg19:g.52387719T>C NA A8K6T6 hg19 CCDS34477.1 0.02 6.640261 CATxTCC COVERED 319 0.14606227106227107 6 0.012195121951219513 60 0.16574585635359115 36 0.06293706293706294 217 0.2862796833773087 T 8.068 0.769720 0.15983 . . ENSG00000096093 ENST00000433625 T 0.68479 -0.33 2.79 -0.832 0.10785 . . . . . T 0.29423 0.0733 . . . 0.58432 P 1.0000000000287557E-6 B 0.02656 0.0 B 0.01281 0.0 T 0.11131 -1.0600 7 0.87932 D 0 . 2.8024 0.05418 0.3543:0.0:0.2962:0.3496 rs17664241 539 B7Z2S4 . S 539 ENSP00000416492:F539S ENSP00000416492:F539S F + 2 0 EFHC1 52495678 0.000000 0.05858 0.000000 0.03702 0.002000 0.02628 -1.112000 0.03299 -0.161000 0.10983 -0.414000 0.06135 TTT NOVEL TRAM2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040910.1 2 21.198222 KEEP 0 1 33 82 2614 TT 1 1 0 - 9 60 338 0 0 22.47067 176 60 6303 335 ENST00000182527.3 0.048649 1 GSTA4 2941 __UNKNOWN__ __UNKNOWN__ 6 52842839 52842839 __UNKNOWN__ 5'UTR SNP C C T rs7496 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:52842839C>T ENST00000486559.1 - 0 1604 GSTA4_ENST00000541324.1_3'UTR O15217 GSTA4_HUMAN glutathione S-transferase alpha 4 NA NA glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805) cytosol (GO:0005829) glutathione transferase activity (GO:0004364)|protein homodimerization activity (GO:0042803) endometrium(1)|lung(3)|skin(2)|urinary_tract(1) 7 Lung NSC(77;0.103) Glutathione(DB00143) GAGTCATTTACTAGACATTCG 0.363 NA C||| 1051 0.209864 0.2935 0.3127 5008 , , NA 17066 0.1399 NA 0.0964 False NA ,,, NA NA NA 2504 0.2127 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF020918 CCDS4948.1 6p12.2 2012-06-21 2008-11-26 ENSG00000170899 ENSG00000170899 2941 2.5.1.18 Glutathione S-transferases / Soluble 4629 protein-coding gene gene with protein product 605450 glutathione S-transferase A4 NA 9480897 Standard NM_001512 NM_001512 NA Approved uc003pbf.3 O15217 OTTHUMG00000014868 ENST00000486559.1:c.-89G>A chr6.hg19:g.52842839C>T NA B2RD15|Q5T7Q8|Q6P4G1|Q9BX18|Q9H414 hg19 0.02 4.191171 TTAxTAG COVERED NOVEL GSTA4-006 KNOWN basic processed_transcript NA protein_coding OTTHUMT00000040949.1 3 6.320848 KEEP 0 0 0 21 765 CC 0.999869 0.999869 0 - 8 60 299 0 0 20.532815 127 60 4787 187 ENST00000486559.1 0.059259 1 GSTA4 2941 __UNKNOWN__ __UNKNOWN__ 6 52842984 52842984 __UNKNOWN__ 5'UTR SNP T T C rs45460495 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:52842984T>C ENST00000486559.1 - 0 1459 GSTA4_ENST00000541324.1_3'UTR O15217 GSTA4_HUMAN glutathione S-transferase alpha 4 NA NA glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805) cytosol (GO:0005829) glutathione transferase activity (GO:0004364)|protein homodimerization activity (GO:0042803) endometrium(1)|lung(3)|skin(2)|urinary_tract(1) 7 Lung NSC(77;0.103) Glutathione(DB00143) CCCATTCTTATTATGAGGATG 0.428 NA T||| 17 0.00339457 0.0 0.0 5008 , , NA 17647 0.0169 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF020918 CCDS4948.1 6p12.2 2012-06-21 2008-11-26 ENSG00000170899 ENSG00000170899 2941 2.5.1.18 Glutathione S-transferases / Soluble 4629 protein-coding gene gene with protein product 605450 glutathione S-transferase A4 NA 9480897 Standard NM_001512 NM_001512 NA Approved uc003pbf.3 O15217 OTTHUMG00000014868 ENST00000486559.1:c.-234A>G chr6.hg19:g.52842984T>C NA B2RD15|Q5T7Q8|Q6P4G1|Q9BX18|Q9H414 hg19 0.02 6.909996 TTAxTAT COVERED NOVEL GSTA4-006 KNOWN basic processed_transcript NA protein_coding OTTHUMT00000040949.1 0 13.240819 KEEP 0 0 0 44 1421 TT 1 1 0 - 9 60 343 0 0 23.146792 168 60 6153 263 ENST00000486559.1 0.050847 1 ELOVL5 60481 __UNKNOWN__ __UNKNOWN__ 6 53156464 53156464 __UNKNOWN__ Intron SNP A A C rs2294870 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:53156464A>C ENST00000542638.1 - 3 694 ELOVL5_ENST00000486973.1_Intron|ELOVL5_ENST00000541407.1_Intron|ELOVL5_ENST00000370918.4_Intron|ELOVL5_ENST00000304434.6_Intron Q9NYP7 ELOV5_HUMAN ELOVL fatty acid elongase 5 NA NA alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|linoleic acid metabolic process (GO:0043651)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid biosynthetic process (GO:0042761) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020) fatty acid elongase activity (GO:0009922) endometrium(1)|kidney(1)|large_intestine(1)|lung(4) 7 Lung NSC(77;0.116) TTGCTTGCCCAGTTGTCTCTA 0.368 NA A||| 331 0.0660942 0.0061 0.2579 5008 , , NA 16976 0.0407 NA 0.0765 False NA ,,, NA NA NA 2504 0.0266 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF052129 CCDS4951.1, CCDS56433.1, CCDS56434.1, CCDS75470.1 6p21.1-p12.1 2014-07-30 2011-05-25 ENSG00000012660 ENSG00000012660 60481 21308 protein-coding gene gene with protein product 611805 ELOVL family member 5, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast), spinocerebellar ataxia 38 SCA38 NA 10970790, 25065913 Standard NM_021814 NM_021814 NA Approved HELO1, dJ483K16.1 uc011dwx.2 Q9NYP7 OTTHUMG00000016249 ENST00000542638.1:c.246+109T>G chr6.hg19:g.53156464A>C NA B4DZJ2|F6SH78|Q59EL3|Q5TGH5|Q6NXE7|Q7L2S5|Q8NCG4|Q9UI22 hg19 CCDS4951.1 0.02 1.517892 CCCxGTT COVERED NOVEL ELOVL5-203 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000043566.1 0 2.707455 KEEP 0 0 0 9 269 AA 0.99254 0.992346 0 - 4 60 139 0 0 8.747474 84 60 2973 102 ENST00000542638.1 0.045455 0.999804 ELOVL5 60481 __UNKNOWN__ __UNKNOWN__ 6 53159090 53159090 __UNKNOWN__ Intron SNP G G T rs2294857 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:53159090G>T ENST00000542638.1 - 2 506 ELOVL5_ENST00000486973.1_Intron|ELOVL5_ENST00000541407.1_Intron|ELOVL5_ENST00000370913.5_Silent_p.A86A|ELOVL5_ENST00000370918.4_Intron|ELOVL5_ENST00000304434.6_Intron Q9NYP7 ELOV5_HUMAN ELOVL fatty acid elongase 5 NA NA alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|linoleic acid metabolic process (GO:0043651)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid biosynthetic process (GO:0042761) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020) fatty acid elongase activity (GO:0009922) endometrium(1)|kidney(1)|large_intestine(1)|lung(4) 7 Lung NSC(77;0.116) ttcaggcaggggcatgtgaag 0.517 NA G||| 331 0.0660942 0.0061 0.2579 5008 , , NA 17072 0.0407 NA 0.0765 False NA ,,, NA NA NA 2504 0.0266 NA NA NA NA 0 G ,,, 24,1720 0,24,848 10 9 9 ,,258, -2.7 0 6 dbSNP_100 9 213,3759 4,205,1777 no intron,intron,coding-synonymous,intron ELOVL5 NM_001242828.1,NM_001242830.1,NM_001242831.1,NM_021814.4 ,,, 4,229,2625 TT,TG,GG 5.3625,1.3761,4.1463 ,,, ,,86/89, 53159090 237,5479 872 1986 2858 SO:0001627 intron_variant AF052129 CCDS4951.1, CCDS56433.1, CCDS56434.1, CCDS75470.1 6p21.1-p12.1 2014-07-30 2011-05-25 ENSG00000012660 ENSG00000012660 60481 21308 protein-coding gene gene with protein product 611805 ELOVL family member 5, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast), spinocerebellar ataxia 38 SCA38 NA 10970790, 25065913 Standard NM_021814 NM_021814 NA Approved HELO1, dJ483K16.1 uc011dwx.2 Q9NYP7 OTTHUMG00000016249 ENST00000542638.1:c.58+1349C>A chr6.hg19:g.53159090G>T NA B4DZJ2|F6SH78|Q59EL3|Q5TGH5|Q6NXE7|Q7L2S5|Q8NCG4|Q9UI22 hg19 CCDS4951.1 0.02 4.138721 AGGxGCA COVERED NOVEL ELOVL5-203 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000043566.1 1 9.932119 KEEP 0 0 0 33 1149 GG 0.999998 0.999998 0 - 5 60 178 0 0 10.808142 136 60 4875 198 ENST00000542638.1 0.035461 1 GCLC 2729 __UNKNOWN__ __UNKNOWN__ 6 53370014 53370014 __UNKNOWN__ Intron SNP G G A rs2277108 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:53370014G>A ENST00000229416.6 - 12 1879 RP1-27K12.4_ENST00000508884.1_RNA NM_001197115.1|NM_001498.3 NP_001184044.1|NP_001489.1 P48506 GSH1_HUMAN glutamate-cysteine ligase, catalytic subunit NA NA apoptotic mitochondrial changes (GO:0008637)|cell redox homeostasis (GO:0045454)|cellular nitrogen compound metabolic process (GO:0034641)|cysteine metabolic process (GO:0006534)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|L-ascorbic acid metabolic process (GO:0019852)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|regulation of blood vessel size (GO:0050880)|regulation of mitochondrial depolarization (GO:0051900)|response to arsenic-containing substance (GO:0046685)|response to heat (GO:0009408)|response to hormone (GO:0009725)|response to nitrosative stress (GO:0051409)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805) cytoplasm (GO:0005737)|cytosol (GO:0005829)|glutamate-cysteine ligase complex (GO:0017109) ADP binding (GO:0043531)|ATP binding (GO:0005524)|coenzyme binding (GO:0050662)|glutamate binding (GO:0016595)|glutamate-cysteine ligase activity (GO:0004357)|magnesium ion binding (GO:0000287) breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 Lung NSC(77;0.0137) L-Cysteine(DB00151)|Vitamin E(DB00163) AATGGAAAGCGTCTAGAAATT 0.348 NA G||| 1522 0.303914 0.3805 0.415 5008 , , NA 17108 0.4177 NA 0.0795 False NA ,,, NA NA NA 2504 0.2352 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M90656 CCDS4952.1, CCDS75471.1 6p12 2008-02-05 ENSG00000001084 2729 6.3.2.2 4311 protein-coding gene gene with protein product 606857 GLCLC, GLCL NA 1350904 Standard NM_001498 NA Approved GCS uc003pbw.2 P48506 ENST00000229416.6:c.1395+175C>T chr6.hg19:g.53370014G>A NA Q14399 hg19 CCDS4952.1 0.02 18.432156 AGCxTCT COVERED NOVEL GCLC-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000359710.2 1 17.558623 KEEP 0 3 90 90 3063 GG 1 1 0 - 24 60 911 0 0 62.085575 417 60 14516 672 ENST00000229416.6 0.054422 1 GCLC 2729 __UNKNOWN__ __UNKNOWN__ 6 53372145 53372145 __UNKNOWN__ Intron SNP T T C rs1555903 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:53372145T>C ENST00000229416.6 - 9 1568 NM_001197115.1|NM_001498.3 NP_001184044.1|NP_001489.1 P48506 GSH1_HUMAN glutamate-cysteine ligase, catalytic subunit NA NA apoptotic mitochondrial changes (GO:0008637)|cell redox homeostasis (GO:0045454)|cellular nitrogen compound metabolic process (GO:0034641)|cysteine metabolic process (GO:0006534)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|L-ascorbic acid metabolic process (GO:0019852)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|regulation of blood vessel size (GO:0050880)|regulation of mitochondrial depolarization (GO:0051900)|response to arsenic-containing substance (GO:0046685)|response to heat (GO:0009408)|response to hormone (GO:0009725)|response to nitrosative stress (GO:0051409)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805) cytoplasm (GO:0005737)|cytosol (GO:0005829)|glutamate-cysteine ligase complex (GO:0017109) ADP binding (GO:0043531)|ATP binding (GO:0005524)|coenzyme binding (GO:0050662)|glutamate binding (GO:0016595)|glutamate-cysteine ligase activity (GO:0004357)|magnesium ion binding (GO:0000287) breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 Lung NSC(77;0.0137) L-Cysteine(DB00151)|Vitamin E(DB00163) TAGGAACAAGTAGCCTCATGA 0.388 NA C||| 1442 0.287939 0.292 0.4179 5008 , , NA 17428 0.4246 NA 0.1004 False NA ,,, NA NA NA 2504 0.2423 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M90656 CCDS4952.1, CCDS75471.1 6p12 2008-02-05 ENSG00000001084 2729 6.3.2.2 4311 protein-coding gene gene with protein product 606857 GLCLC, GLCL NA 1350904 Standard NM_001498 NA Approved GCS uc003pbw.2 P48506 ENST00000229416.6:c.1084+132A>G chr6.hg19:g.53372145T>C NA Q14399 hg19 CCDS4952.1 0.02 4.871368 AAGxAGC COVERED NOVEL GCLC-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000359710.2 0 4.811253 KEEP 0 0 0 16 441 TT 0.997832 0.997813 0 - 7 60 269 0 0 19.133554 96 60 3260 127 ENST00000229416.6 0.067961 0.999981 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 54697049 54697049 __UNKNOWN__ IGR SNP T T A rs9475029 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:54697049T>A NA NA RNU6-1023P (45759 upstream) : RP11-524H19.2 (7866 downstream) NA NA NA attacaggcatgagccaccgt 0.453 NA T||| 1323 0.264177 0.1316 0.2522 5008 , , NA 16364 0.1806 NA 0.4185 False NA ,,, NA NA NA 2504 0.3793 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.54697049T>A NA hg19 0.02 -0.02632 GCAxGAG UNCOVERED NOVEL 0 2 3.009327 KEEP 1 0 0 10 319 TT 0.99254 0 0 2 60 77 0 0 7.824856 1 60 39 17 0.666667 0 GFRAL 389400 __UNKNOWN__ __UNKNOWN__ 6 55196587 55196587 __UNKNOWN__ Missense_Mutation SNP C C T rs12199003 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:55196587C>T ENST00000340465.2 + 2 183 c.97C>T c.(97-99)Cgt>Tgt p.R33C NM_207410.2 NP_997293.2 Q6UXV0 GFRAL_HUMAN GDNF family receptor alpha like 33 NA R -> C (in dbSNP:rs12199003). negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|stress-activated protein kinase signaling cascade (GO:0031098) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 48 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) GCAATGCTTACGTGATGCAAA 0.343 NA C||| 2078 0.414936 0.4312 0.2594 5008 , , NA 17227 0.3056 NA 0.3728 False NA ,,, NA NA NA 2504 0.6595 NA NA NA NA 0 C CYS/ARG 1778,2628 525.5+/-371.6 355,1068,780 110 100 104 97 1.1 0 6 dbSNP_120 104 3122,5478 475.7+/-369.2 576,1970,1754 yes missense GFRAL NM_207410.2 180 931,3038,2534 TT,TC,CC 36.3023,40.3541,37.6749 benign 33/395 55196587 4900,8106 2203 4300 6503 SO:0001583 missense AY358198 CCDS4957.1 6p12.1 2007-06-22 ENSG00000187871 ENSG00000187871 389400 32789 protein-coding gene gene with protein product chromosome 6 open reading frame 144 C6orf144 NA 16086688 Standard NM_207410 NM_207410 NA Approved GRAL, UNQ9356, bA360D14.1 uc003pcm.1 Q6UXV0 OTTHUMG00000014900 ENST00000340465.2:c.97C>T chr6.hg19:g.55196587C>T ENSP00000343636:p.Arg33Cys NA Q5VTF6 hg19 CCDS4957.1 0.02 4.329461 TTAxGTG COVERED 750 0.3434065934065934 207 0.42073170731707316 104 0.287292817679558 155 0.270979020979021 284 0.37467018469656993 C 4.744 0.138430 0.09083 0.403541 0.363023 ENSG00000187871 ENST00000340465 T 0.32023 1.47 4.92 1.07 0.20283 GDNF/GAS1 (1); 0.763973 0.12676 N 0.448376 T 0.04363 0.0120 N 0.08118 0 0.80722 P 0.0 P 0.40302 0.712 B 0.33042 0.157 T 0.25882 -1.0119 9 0.54805 T 0.06 -4.7752 5.4581 0.16602 0.5391:0.365:0.0959:0.0 rs12199003;rs52831854;rs57201493;rs12199003 33 Q6UXV0 GFRAL_HUMAN C 33 ENSP00000343636:R33C ENSP00000343636:R33C R + 1 0 GFRAL 55304546 0.000000 0.05858 0.006000 0.13384 0.009000 0.06853 0.179000 0.16840 -0.047000 0.13423 -0.518000 0.04402 CGT NOVEL GFRAL-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000040995.2 0 4.213426 KEEP 0 0 0 14 476 CC 0.995343 0.995343 0 + 5 60 193 0 0 12.289028 137 60 4927 199 ENST00000340465.2 0.035211 1 DST 667 __UNKNOWN__ __UNKNOWN__ 6 56327849 56327849 __UNKNOWN__ Intron SNP C C T rs11758339 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:56327849C>T ENST00000361203.3 - 96 22007 DST_ENST00000446842.2_Intron|DST_ENST00000244364.6_Missense_Mutation_p.A5042T|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370769.4_Intron Q03001 DYST_HUMAN dystonin NA NA axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090) actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018) calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803) NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) AATACCTCTGCAGATGGCACG 0.433 NA C||| 1095 0.21865 0.0802 0.2507 5008 , , NA 19212 0.2401 NA 0.2515 False NA ,,, NA NA NA 2504 0.3272 NA NA NA NA 0 C THR/ALA 393,3485 16,361,1562 132 124 126 15124 1.9 1 6 dbSNP_120 126 2167,6149 295,1577,2286 yes missense DST NM_015548.4 58 311,1938,3848 TT,TC,CC 26.0582,10.1341,20.9939 benign 5042/5172 56327849 2560,9634 1939 4158 6097 SO:0001627 intron_variant M22942, M69225 CCDS4959.1, CCDS47443.1, CCDS75474.1 6p12.1 2013-01-10 2004-06-25 2004-07-01 ENSG00000151914 ENSG00000151914 667 EF-hand domain containing 1090 protein-coding gene gene with protein product 113810 bullous pemphigoid antigen 1, 230/240kDa BPAG1 NA 2461961, 2276744 Standard NM_001723 NM_001144770 NA Approved BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2 uc021zba.2 Q03001 OTTHUMG00000014913 ENST00000361203.3:c.21999+513G>A chr6.hg19:g.56327849C>T NA B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10 hg19 0.02 14.940386 CTGxAGA COVERED 446 0.2042124542124542 35 0.07113821138211382 103 0.2845303867403315 129 0.22552447552447552 179 0.23614775725593667 C 10.24 1.295014 0.23564 0.101341 0.260582 ENSG00000151914 ENST00000244364 T 0.39592 1.07 5.79 1.9 0.25705 . . . . . T 0.05686 0.0149 N 0.11427 0.14 0.09310 P 0.999996 B;B 0.02656 0.0;0.0 B;B 0.06405 0.002;0.0 T 0.37244 -0.9714 8 0.02654 T 1 . 7.175 0.25738 0.0:0.4431:0.3626:0.1943 rs11758339;rs17234615;rs52794909;rs61232913;rs11758339 5042;129 Q03001-8;Q86T18 .;. T 5042 ENSP00000244364:A5042T ENSP00000244364:A5042T A - 1 0 DST 56435808 0.923000 0.31300 0.998000 0.56505 0.993000 0.82548 0.212000 0.17497 0.335000 0.23614 0.655000 0.94253 GCA NOVEL DST-004 NOVEL not_organism_supported|basic|appris_candidate protein_coding NA protein_coding OTTHUMT00000041021.3 1 27.990824 KEEP 0 0 0 93 3289 CC 1 1 0 - 12 60 429 0 0 25.775392 350 60 13401 563 ENST00000361203.3 0.033149 1 DST 667 __UNKNOWN__ __UNKNOWN__ 6 56417112 56417112 __UNKNOWN__ Missense_Mutation SNP C C A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:56417112C>A ENST00000361203.3 - 57 15852 c.15845G>T c.(15844-15846)cGc>cTc p.R5282L DST_ENST00000446842.2_Missense_Mutation_p.R4958L|DST_ENST00000244364.6_Missense_Mutation_p.R2870L|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.R3196L|DST_ENST00000370788.2_Missense_Mutation_p.R3196L|DST_ENST00000370754.5_Missense_Mutation_p.R5462L|DST_ENST00000370769.4_Missense_Mutation_p.R5284L Q03001 DYST_HUMAN dystonin 5282 NA axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090) actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018) calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803) p.R5284H(1)|p.R2870H(1) NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TTCTTCAAGGCGCTTAATTGT 0.443 NA NA NA NA NA NA NA NA NA NA NA 2 Substitution - Missense(2) large_intestine(2) 82 78 79 NA NA 6 NA 56417112 1847 4095 5942 SO:0001583 missense M22942, M69225 CCDS4959.1, CCDS47443.1, CCDS75474.1 6p12.1 2013-01-10 2004-06-25 2004-07-01 ENSG00000151914 ENSG00000151914 667 EF-hand domain containing 1090 protein-coding gene gene with protein product 113810 bullous pemphigoid antigen 1, 230/240kDa BPAG1 NA 2461961, 2276744 Standard NM_001723 NM_001144770 NA Approved BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2 uc021zba.2 Q03001 OTTHUMG00000014913 ENST00000361203.3:c.15845G>T chr6.hg19:g.56417112C>A ENSP00000354508:p.Arg5282Leu NA B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10 hg19 0.02 26.175715 AGGxGCT COVERED . . . . . . . . . . C 14.76 2.630946 0.46944 . . ENSG00000151914 ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203 T;T;T;T;T;T;T 0.43688 0.94;0.94;0.94;0.94;0.94;0.94;0.94 6.17 5.3 0.74995 . 0.149973 0.27397 N 0.019560 T 0.51483 0.1677 M 0.76328 2.33 0.29389 N 0.862744 D;P;P;P;D 0.76494 0.999;0.942;0.884;0.722;0.99 D;P;P;B;D 0.67382 0.951;0.787;0.588;0.369;0.912 T 0.54009 -0.8357 9 0.28530 T 0.3 . 14.6875 0.69059 0.0:0.9302:0.0:0.0698 . 3196;5284;5462;5282;2870 Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8 .;.;.;DYST_HUMAN;. L 2870;5462;5284;3196;4958;3196;5282 ENSP00000244364:R2870L;ENSP00000359790:R5462L;ENSP00000359805:R5284L;ENSP00000400883:R3196L;ENSP00000393645:R4958L;ENSP00000359824:R3196L;ENSP00000354508:R5282L ENSP00000244364:R2870L R - 2 0 DST 56525071 0.993000 0.37304 0.026000 0.17262 0.965000 0.64279 3.613000 0.54152 1.598000 0.50083 0.655000 0.94253 CGC NOVEL DST-004 NOVEL not_organism_supported|basic|appris_candidate protein_coding NA protein_coding OTTHUMT00000041021.3 3 58.989657 KEEP 0 0 0 196 6856 CC 1 1 0 - 15 60 566 0 0 33.04502 610 60 21113 1006 ENST00000361203.3 0.024 1 DST 667 __UNKNOWN__ __UNKNOWN__ 6 56426931 56426931 __UNKNOWN__ Intron SNP C C T rs9367689 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:56426931C>T ENST00000361203.3 - 52 13443 DST_ENST00000446842.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370769.4_Intron Q03001 DYST_HUMAN dystonin NA NA axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090) actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018) calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803) NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) AAAATTAATACTCACCTTTAT 0.294 NA T||| 1679 0.335264 0.3487 0.3977 5008 , , NA 13969 0.2579 NA 0.3936 False NA ,,, NA NA NA 2504 0.2924 NA NA NA NA 0 T 1207,2381 211,785,798 48 42 44 -1.1 0 6 dbSNP_119 44 3293,4779 710,1873,1453 no intron DST NM_015548.4 921,2658,2251 TT,TC,CC 40.7953,33.6399,38.5935 56426931 4500,7160 1794 4036 5830 SO:0001627 intron_variant M22942, M69225 CCDS4959.1, CCDS47443.1, CCDS75474.1 6p12.1 2013-01-10 2004-06-25 2004-07-01 ENSG00000151914 ENSG00000151914 667 EF-hand domain containing 1090 protein-coding gene gene with protein product 113810 bullous pemphigoid antigen 1, 230/240kDa BPAG1 NA 2461961, 2276744 Standard NM_001723 NM_001144770 NA Approved BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2 uc021zba.2 Q03001 OTTHUMG00000014913 ENST00000361203.3:c.13435+4G>A chr6.hg19:g.56426931C>T NA B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10 hg19 0.02 4.454347 ATAxTCA COVERED NOVEL DST-004 NOVEL not_organism_supported|basic|appris_candidate protein_coding NA protein_coding OTTHUMT00000041021.3 0 8.126819 KEEP 0 0 0 27 990 CC 0.999988 0.999972 0 - 5 60 186 0 0 12.258359 100 60 3777 157 ENST00000361203.3 0.047619 0.999984 DST 667 __UNKNOWN__ __UNKNOWN__ 6 56437465 56437465 __UNKNOWN__ Intron SNP T T C rs1014309 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:56437465T>C ENST00000361203.3 - 48 12929 DST_ENST00000446842.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370769.4_Intron Q03001 DYST_HUMAN dystonin NA NA axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090) actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018) calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803) NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TTGCCAATTATAATTCTGGCA 0.333 NA T||| 1345 0.26857 0.1014 0.3718 5008 , , NA 19594 0.2758 NA 0.3926 False NA ,,, NA NA NA 2504 0.2863 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M22942, M69225 CCDS4959.1, CCDS47443.1, CCDS75474.1 6p12.1 2013-01-10 2004-06-25 2004-07-01 ENSG00000151914 ENSG00000151914 667 EF-hand domain containing 1090 protein-coding gene gene with protein product 113810 bullous pemphigoid antigen 1, 230/240kDa BPAG1 NA 2461961, 2276744 Standard NM_001723 NM_001144770 NA Approved BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2 uc021zba.2 Q03001 OTTHUMG00000014913 ENST00000361203.3:c.12921+79A>G chr6.hg19:g.56437465T>C NA B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10 hg19 0.02 4.177169 TTAxAAT COVERED NOVEL DST-004 NOVEL not_organism_supported|basic|appris_candidate protein_coding NA protein_coding OTTHUMT00000041021.3 2 2.706135 KEEP 0 0 0 9 248 TT 0.99254 0.99254 0 - 5 60 178 0 0 10.702539 143 60 5256 164 ENST00000361203.3 0.033784 1 DST 667 __UNKNOWN__ __UNKNOWN__ 6 56463410 56463410 __UNKNOWN__ Missense_Mutation SNP T T C rs4712138 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:56463410T>C ENST00000361203.3 - 42 11166 c.11159A>G c.(11158-11160)cAg>cGg p.Q3720R DST_ENST00000446842.2_Missense_Mutation_p.Q3396R|DST_ENST00000244364.6_Missense_Mutation_p.Q1308R|DST_ENST00000312431.6_Missense_Mutation_p.Q3720R|DST_ENST00000421834.2_Missense_Mutation_p.Q1634R|DST_ENST00000370788.2_Missense_Mutation_p.Q1634R|DST_ENST00000370754.5_Missense_Mutation_p.Q3900R|DST_ENST00000370769.4_Missense_Mutation_p.Q3722R Q03001 DYST_HUMAN dystonin 3720 NA Q -> R (in dbSNP:rs4712138). axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090) actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018) calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803) NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) CTTATCTTCCTGTGACAGCTT 0.358 NA C||| 1644 0.328275 0.351 0.3804 5008 , , NA 16060 0.254 NA 0.3837 False NA ,,, NA NA NA 2504 0.2802 NA NA NA NA 0 C ARG/GLN 1330,2366 226,878,744 160 150 153 3923 -11.8 0 6 dbSNP_111 153 3193,4981 645,1903,1539 yes missense DST NM_015548.4 43 871,2781,2283 CC,CT,TT 39.0629,35.9848,38.1045 benign 1308/5172 56463410 4523,7347 1848 4087 5935 SO:0001583 missense M22942, M69225 CCDS4959.1, CCDS47443.1, CCDS75474.1 6p12.1 2013-01-10 2004-06-25 2004-07-01 ENSG00000151914 ENSG00000151914 667 EF-hand domain containing 1090 protein-coding gene gene with protein product 113810 bullous pemphigoid antigen 1, 230/240kDa BPAG1 NA 2461961, 2276744 Standard NM_001723 NM_001144770 NA Approved BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2 uc021zba.2 Q03001 OTTHUMG00000014913 ENST00000361203.3:c.11159A>G chr6.hg19:g.56463410T>C ENSP00000354508:p.Gln3720Arg NA B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10 hg19 0.02 8.175983 TCCxGTG COVERED 745 0.3411172161172161 182 0.3699186991869919 144 0.39779005524861877 141 0.2465034965034965 278 0.36675461741424803 C 10.74 1.435997 0.25813 0.359848 0.390629 ENSG00000151914 ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203 T;T;T;T;T;T;T;T 0.50813 0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73 5.9 -11.8 0.00035 . 0.981666 0.08301 N 0.966933 T 0.12646 0.0307 M 0.63428 1.95 0.09310 P 0.999998 B;B;B;B;B 0.10296 0.0;0.003;0.002;0.0;0.001 B;B;B;B;B 0.13407 0.001;0.009;0.005;0.0;0.003 T 0.03384 -1.1042 9 0.17369 T 0.5 . 6.5803 0.22589 0.0679:0.074:0.2054:0.6527 rs4712138;rs52826808;rs59623485;rs4712138 1634;3722;3900;3720;1308 Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8 .;.;.;DYST_HUMAN;. R 1308;3900;3722;1634;3396;3720;1634;3720 ENSP00000244364:Q1308R;ENSP00000359790:Q3900R;ENSP00000359805:Q3722R;ENSP00000400883:Q1634R;ENSP00000393645:Q3396R;ENSP00000307959:Q3720R;ENSP00000359824:Q1634R;ENSP00000354508:Q3720R ENSP00000244364:Q1308R Q - 2 0 DST 56571369 0.449000 0.25689 0.000000 0.03702 0.802000 0.45316 -0.337000 0.07852 -3.140000 0.00233 -0.790000 0.03334 CAG NOVEL DST-004 NOVEL not_organism_supported|basic|appris_candidate protein_coding NA protein_coding OTTHUMT00000041021.3 2 5.185387 KEEP 0 2 71 42 1312 TT 1 1 0 - 8 60 285 0 0 17.498332 206 60 7851 323 ENST00000361203.3 0.037383 1 DST 667 __UNKNOWN__ __UNKNOWN__ 6 56468627 56468627 __UNKNOWN__ Intron SNP C C A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:56468627C>A ENST00000361203.3 - 36 10166 DST_ENST00000446842.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370769.4_Intron Q03001 DYST_HUMAN dystonin NA NA axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090) actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018) calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803) NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) ATGTATAGGTCAACTTACTTG 0.363 NA NA NA NA NA NA NA NA NA NA NA 0 53 51 52 NA NA 6 NA 56468627 1853 4090 5943 SO:0001627 intron_variant M22942, M69225 CCDS4959.1, CCDS47443.1, CCDS75474.1 6p12.1 2013-01-10 2004-06-25 2004-07-01 ENSG00000151914 ENSG00000151914 667 EF-hand domain containing 1090 protein-coding gene gene with protein product 113810 bullous pemphigoid antigen 1, 230/240kDa BPAG1 NA 2461961, 2276744 Standard NM_001723 NM_001144770 NA Approved BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2 uc021zba.2 Q03001 OTTHUMG00000014913 ENST00000361203.3:c.10158+7G>T chr6.hg19:g.56468627C>A NA B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10 hg19 0.02 13.797861 GGTxAAC COVERED NOVEL DST-004 NOVEL not_organism_supported|basic|appris_candidate protein_coding NA protein_coding OTTHUMT00000041021.3 1 15.650427 KEEP 0 0 0 52 1807 CC 1 1 0 - 13 60 457 0 0 27.168145 377 60 14148 516 ENST00000361203.3 0.033333 1 DST 667 __UNKNOWN__ __UNKNOWN__ 6 56471402 56471402 __UNKNOWN__ Missense_Mutation SNP G G A rs9382658 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:56471402G>A ENST00000361203.3 - 36 7398 c.7391C>T c.(7390-7392)cCa>cTa p.P2464L DST_ENST00000446842.2_Missense_Mutation_p.P2138L|DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Missense_Mutation_p.P2464L|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370754.5_Missense_Mutation_p.P2642L|DST_ENST00000370769.4_Missense_Mutation_p.P2464L Q03001 DYST_HUMAN dystonin 2464 NA axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090) actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018) calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803) NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) GCTACCAACTGGTGCCCCCTG 0.393 NA A||| 1774 0.354233 0.4985 0.3775 5008 , , NA 23934 0.2431 NA 0.3807 False NA ,,, NA NA NA 2504 0.2301 NA NA NA NA 0 A 1800,1908 411,978,465 86 82 83 -0.7 0 6 dbSNP_119 83 3353,4849 700,1953,1448 no intron DST NM_015548.4 1111,2931,1913 AA,AG,GG 40.8803,48.5437,43.2662 56471402 5153,6757 1854 4101 5955 SO:0001583 missense M22942, M69225 CCDS4959.1, CCDS47443.1, CCDS75474.1 6p12.1 2013-01-10 2004-06-25 2004-07-01 ENSG00000151914 ENSG00000151914 667 EF-hand domain containing 1090 protein-coding gene gene with protein product 113810 bullous pemphigoid antigen 1, 230/240kDa BPAG1 NA 2461961, 2276744 Standard NM_001723 NM_001144770 NA Approved BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2 uc021zba.2 Q03001 OTTHUMG00000014913 ENST00000361203.3:c.7391C>T chr6.hg19:g.56471402G>A ENSP00000354508:p.Pro2464Leu NA B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10 hg19 0.02 14.704432 ACTxGTG COVERED 810 0.3708791208791209 257 0.5223577235772358 143 0.39502762430939226 136 0.23776223776223776 274 0.36147757255936674 A 5.658 0.306073 0.10733 0.485437 0.408803 ENSG00000151914 ENST00000370754;ENST00000370769;ENST00000446842;ENST00000312431;ENST00000361203;ENST00000439203 T;T;T;T;T;T 0.78707 0.3;0.31;1.26;-1.2;0.28;0.0 4.76 -0.669 0.11388 . 1.552530 0.04485 N 0.378539 T 0.21427 0.0516 . . . 0.20563 P 0.999887 B 0.02656 0.0 B 0.04013 0.001 T 0.20505 -1.0273 8 0.02654 T 1 . 1.3379 0.02148 0.4358:0.1437:0.2805:0.1399 rs9382658;rs52823011;rs58676013;rs9382658 2138 Q03001-9 . L 2642;2464;2138;2464;2464;2138 ENSP00000359790:P2642L;ENSP00000359805:P2464L;ENSP00000393645:P2138L;ENSP00000307959:P2464L;ENSP00000354508:P2464L;ENSP00000404924:P2138L ENSP00000307959:P2464L P - 2 0 DST 56579361 0.000000 0.05858 0.000000 0.03702 0.006000 0.05464 0.250000 0.18235 0.005000 0.14708 -0.893000 0.02921 CCA NOVEL DST-004 NOVEL not_organism_supported|basic|appris_candidate protein_coding NA protein_coding OTTHUMT00000041021.3 5 15.349142 KEEP 0 0 0 51 1789 GG 1 1 0 - 13 60 476 0 0 29.106679 374 60 14080 501 ENST00000361203.3 0.033592 1 DST 667 __UNKNOWN__ __UNKNOWN__ 6 56471995 56471995 __UNKNOWN__ Silent SNP C C T rs16888055 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:56471995C>T ENST00000361203.3 - 36 6805 c.6798G>A c.(6796-6798)ttG>ttA p.L2266L DST_ENST00000446842.2_Silent_p.L1940L|DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Silent_p.L2266L|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370754.5_Silent_p.L2444L|DST_ENST00000370769.4_Silent_p.L2266L Q03001 DYST_HUMAN dystonin 2266 NA axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090) actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018) calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803) NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TTTGACCTGACAACATGGTTT 0.403 NA T||| 1460 0.291534 0.2927 0.3545 5008 , , NA 19570 0.248 NA 0.3648 False NA ,,, NA NA NA 2504 0.2147 NA NA NA NA 0 T 1141,2513 171,799,857 66 64 65 2.5 0 6 dbSNP_123 65 3051,5131 601,1849,1641 no intron DST NM_015548.4 772,2648,2498 TT,TC,CC 37.2892,31.2261,35.4174 56471995 4192,7644 1827 4091 5918 SO:0001819 synonymous_variant M22942, M69225 CCDS4959.1, CCDS47443.1, CCDS75474.1 6p12.1 2013-01-10 2004-06-25 2004-07-01 ENSG00000151914 ENSG00000151914 667 EF-hand domain containing 1090 protein-coding gene gene with protein product 113810 bullous pemphigoid antigen 1, 230/240kDa BPAG1 NA 2461961, 2276744 Standard NM_001723 NM_001144770 NA Approved BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2 uc021zba.2 Q03001 OTTHUMG00000014913 ENST00000361203.3:c.6798G>A chr6.hg19:g.56471995C>T NA B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10 hg19 0.02 8.671209 TGAxAAC COVERED NOVEL DST-004 NOVEL not_organism_supported|basic|appris_candidate protein_coding NA protein_coding OTTHUMT00000041021.3 1 4.349468 KEEP 0 1 33 26 916 CC 0.999988 0.999988 0 - 9 60 332 0 0 21.500293 194 60 7159 256 ENST00000361203.3 0.044335 1 DST 667 __UNKNOWN__ __UNKNOWN__ 6 56482801 56482801 __UNKNOWN__ Intron SNP C C G rs6459166 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:56482801C>G ENST00000361203.3 - 33 4304 DST_ENST00000370765.6_Missense_Mutation_p.V2011L|DST_ENST00000446842.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370769.4_Intron Q03001 DYST_HUMAN dystonin NA NA axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090) actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018) calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803) NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) GGTGTCAAAACCTTCACCAGT 0.393 NA G||| 2012 0.401757 0.5817 0.4063 5008 , , NA 19088 0.2669 NA 0.3976 False NA ,,, NA NA NA 2504 0.2986 NA NA NA NA 0 G LEU/VAL, 2424,1982 558.7+/-380.1 642,1140,421 138 134 135 6031, 5.5 1 6 dbSNP_116 135 3679,4921 621.2+/-397.2 802,2075,1423 yes missense,intron DST NM_001723.5,NM_015548.4 32, 1444,3215,1844 GG,GC,CC 42.7791,44.9841,46.9245 , 2011/2650, 56482801 6103,6903 2203 4300 6503 SO:0001627 intron_variant M22942, M69225 CCDS4959.1, CCDS47443.1, CCDS75474.1 6p12.1 2013-01-10 2004-06-25 2004-07-01 ENSG00000151914 ENSG00000151914 667 EF-hand domain containing 1090 protein-coding gene gene with protein product 113810 bullous pemphigoid antigen 1, 230/240kDa BPAG1 NA 2461961, 2276744 Standard NM_001723 NM_001144770 NA Approved BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2 uc021zba.2 Q03001 OTTHUMG00000014913 ENST00000361203.3:c.4297-3519G>C chr6.hg19:g.56482801C>G NA B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10 hg19 0.02 12.091732 AAAxCTT COVERED 875 0.40064102564102566 289 0.5873983739837398 156 0.430939226519337 145 0.2534965034965035 285 0.3759894459102902 G 1.427 -0.571209 0.03882 0.550159 0.427791 ENSG00000151914 ENST00000370765 T 0.12984 2.63 5.49 5.49 0.81192 . . . . . T 0.03434 0.0099 . . . 0.09310 P 1.0 B 0.02656 0.0 B 0.01281 0.0 T 0.36383 -0.9750 7 0.17832 T 0.49 . 12.8068 0.57618 0.0:0.125:0.745:0.13 rs6459166;rs17674623;rs57901071;rs6459166 2011 Q03001-3 . L 2011 ENSP00000359801:V2011L ENSP00000359801:V2011L V - 1 0 DST 56590760 1.000000 0.71417 0.999000 0.59377 0.954000 0.61252 1.942000 0.40243 1.332000 0.45431 -0.224000 0.12420 GTT NOVEL DST-004 NOVEL not_organism_supported|basic|appris_candidate protein_coding NA protein_coding OTTHUMT00000041021.3 2 10.969619 KEEP 0 1 36 49 1724 CC 1 1 0 - 10 60 382 0 0 24.63883 246 60 9189 383 ENST00000361203.3 0.039062 1 DST 667 __UNKNOWN__ __UNKNOWN__ 6 56484758 56484758 __UNKNOWN__ Intron SNP C C T rs2230862 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:56484758C>T ENST00000361203.3 - 32 4304 DST_ENST00000370765.6_Silent_p.K1358K|DST_ENST00000446842.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370769.4_Intron Q03001 DYST_HUMAN dystonin NA NA axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090) actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018) calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803) NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) CTGCTTTCTGCTTGTCATGTT 0.443 NA T||| 1685 0.336462 0.4523 0.3746 5008 , , NA 19178 0.2034 NA 0.3946 False NA ,,, NA NA NA 2504 0.2301 NA NA NA NA 0 T , 1918,2488 626.8+/-394.8 399,1120,684 194 180 185 4074, -2.8 0 6 dbSNP_98 185 3584,5016 627.4+/-398.0 762,2060,1478 no coding-synonymous,intron DST NM_001723.5,NM_015548.4 , 1161,3180,2162 TT,TC,CC 41.6744,43.5315,42.3036 , 1358/2650, 56484758 5502,7504 2203 4300 6503 SO:0001627 intron_variant M22942, M69225 CCDS4959.1, CCDS47443.1, CCDS75474.1 6p12.1 2013-01-10 2004-06-25 2004-07-01 ENSG00000151914 ENSG00000151914 667 EF-hand domain containing 1090 protein-coding gene gene with protein product 113810 bullous pemphigoid antigen 1, 230/240kDa BPAG1 NA 2461961, 2276744 Standard NM_001723 NM_001144770 NA Approved BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2 uc021zba.2 Q03001 OTTHUMG00000014913 ENST00000361203.3:c.4296+4569G>A chr6.hg19:g.56484758C>T NA B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10 hg19 0.02 13.01442 CTGxTTG COVERED NOVEL DST-004 NOVEL not_organism_supported|basic|appris_candidate protein_coding NA protein_coding OTTHUMT00000041021.3 3 15.986809 KEEP 0 1 19 60 2173 CC 1 1 0 - 16 60 582 0 0 37.993536 316 60 12054 462 ENST00000361203.3 0.048193 1 KIAA1586 57691 __UNKNOWN__ __UNKNOWN__ 6 56919443 56919443 __UNKNOWN__ Missense_Mutation SNP A A G rs61740375 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:56919443A>G ENST00000370733.4 + 4 2353 c.2146A>G c.(2146-2148)Ata>Gta p.I716V KIAA1586_ENST00000545356.1_Missense_Mutation_p.I689V NM_020931.2 NP_065982.1 Q9HCI6 K1586_HUMAN KIAA1586 716 NA nucleic acid binding (GO:0003676) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1) 18 Lung NSC(77;0.0969) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) tttaatgaacataatttgtac 0.318 NA a||| 462 0.0922524 0.1142 0.0865 5008 , , NA 16956 0.0893 NA 0.0944 False NA ,,, NA NA NA 2504 0.0675 NA NA NA NA 0 A VAL/ILE 440,3944 20,400,1772 25 25 25 2146 2 1 6 dbSNP_129 25 678,7904 29,620,3642 yes missense KIAA1586 NM_020931.2 29 49,1020,5414 GG,GA,AA 7.9003,10.0365,8.6226 possibly-damaging 716/788 56919443 1118,11848 2192 4291 6483 SO:0001583 missense AB046806 CCDS34480.1, CCDS69138.1 6p12.1 2014-03-27 ENSG00000168116 ENSG00000168116 57691 21360 protein-coding gene gene with protein product NA 10997877 Standard NM_020931 NM_001286274 NA Approved uc003pdj.3 Q9HCI6 OTTHUMG00000014915 ENST00000370733.4:c.2146A>G chr6.hg19:g.56919443A>G ENSP00000359768:p.Ile716Val NA A8K4M3|Q8IW25 hg19 CCDS34480.1 0.02 8.647832 AACxTAA COVERED 185 0.08470695970695971 43 0.08739837398373984 30 0.08287292817679558 39 0.06818181818181818 73 0.09630606860158311 a 6.156 0.397023 0.11638 0.100365 0.079003 ENSG00000168116 ENST00000370733;ENST00000545356 T;T 0.21361 2.01;2.01 3.23 2.04 0.26737 Ribonuclease H-like (1); . . . . T 0.02418 0.0074 N 0.08118 0 0.53005 P 4.0000000000040004E-5 B;B 0.21381 0.055;0.055 B;B 0.22386 0.039;0.039 T 0.47275 -0.9130 8 0.11794 T 0.64 . 5.301 0.15778 0.8611:0.0:0.1389:0.0 rs61740375 689;716 F5H2N6;Q9HCI6 .;K1586_HUMAN V 716;689 ENSP00000359768:I716V;ENSP00000445507:I689V ENSP00000359768:I716V I + 1 0 KIAA1586 57027402 1.000000 0.71417 1.000000 0.80357 0.946000 0.59487 1.205000 0.32308 0.431000 0.26258 -0.290000 0.09829 ATA NOVEL KIAA1586-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000041033.1 3 12.939106 KEEP 0 0 0 43 1364 AA 1 1 0 + 12 60 407 0 0 26.303362 205 60 7563 300 ENST00000370733.4 0.0553 1 ZNF451 26036 __UNKNOWN__ __UNKNOWN__ 6 56965387 56965387 __UNKNOWN__ Intron SNP T T C rs148268638 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:56965387T>C ENST00000370706.4 + 3 430 ZNF451_ENST00000370708.4_Intron|ZNF451_ENST00000370702.1_Intron|ZNF451_ENST00000491832.2_Intron|ZNF451_ENST00000510989.1_Intron|ZNF451_ENST00000357489.3_Intron NM_001031623.2 NP_001026794.1 Q9Y4E5 ZN451_HUMAN zinc finger protein 451 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 Lung NSC(77;0.145) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) TTCTTGTTCATGTGGATAACC 0.373 NA T||| 32 0.00638978 0.0008 0.0 5008 , , NA 19389 0.0278 NA 0.0 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB011148 CCDS4960.1, CCDS43477.1, CCDS59026.1 6p12.1 2012-08-08 ENSG00000112200 ENSG00000112200 26036 Zinc fingers, C2H2-type 21091 protein-coding gene gene with protein product 615708 NA 9628581 Standard NM_015555 NM_001031623 NA Approved KIAA0576, COASTER, dJ417I1.1, KIAA1702 uc003pdm.2 Q9Y4E5 OTTHUMG00000014916 ENST00000370706.4:c.186+1448T>C chr6.hg19:g.56965387T>C NA Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1 hg19 CCDS43477.1 0.02 10.679982 TCAxGTG COVERED NOVEL ZNF451-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041035.2 2 16.550169 KEEP 0 0 0 55 1739 TT 1 1 0 + 11 60 403 0 0 25.606379 258 60 9639 399 ENST00000370706.4 0.040892 1 ZNF451 26036 __UNKNOWN__ __UNKNOWN__ 6 56998023 56998023 __UNKNOWN__ Intron SNP A A G rs3757296 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:56998023A>G ENST00000370706.4 + 6 819 RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|ZNF451_ENST00000491832.2_Intron|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|ZNF451_ENST00000357489.3_Intron|RP11-203B9.4_ENST00000591553.1_RNA NM_001031623.2 NP_001026794.1 Q9Y4E5 ZN451_HUMAN zinc finger protein 451 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 Lung NSC(77;0.145) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) TGAATGCTGAAGATCTAGTGA 0.333 NA G||| 602 0.120208 0.2148 0.0951 5008 , , NA 18377 0.0893 NA 0.0954 False NA ,,, NA NA NA 2504 0.0675 NA NA NA NA 0 G , 868,3538 733.4+/-410.5 71,726,1406 70 71 71 , -0.9 0 6 dbSNP_107 71 690,7910 783.7+/-407.6 30,630,3640 no intron,intron ZNF451 NM_001031623.2,NM_015555.2 , 101,1356,5046 GG,GA,AA 8.0233,19.7004,11.9791 , , 56998023 1558,11448 2203 4300 6503 SO:0001627 intron_variant AB011148 CCDS4960.1, CCDS43477.1, CCDS59026.1 6p12.1 2012-08-08 ENSG00000112200 ENSG00000112200 26036 Zinc fingers, C2H2-type 21091 protein-coding gene gene with protein product 615708 NA 9628581 Standard NM_015555 NM_001031623 NA Approved KIAA0576, COASTER, dJ417I1.1, KIAA1702 uc003pdm.2 Q9Y4E5 OTTHUMG00000014916 ENST00000370706.4:c.575+33A>G chr6.hg19:g.56998023A>G NA Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1 hg19 CCDS43477.1 0.02 5.642546 TGAxGAT COVERED NOVEL ZNF451-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041035.2 0 4.814457 KEEP 0 0 0 16 501 AA 0.997832 0.997832 0 + 6 60 208 0 0 12.175203 179 60 6721 212 ENST00000370706.4 0.032432 1 ZNF451 26036 __UNKNOWN__ __UNKNOWN__ 6 57006933 57006933 __UNKNOWN__ Intron SNP T T C rs2273921 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:57006933T>C ENST00000370706.4 + 9 1248 RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|ZNF451_ENST00000491832.2_Intron|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|ZNF451_ENST00000357489.3_Intron|RP11-203B9.4_ENST00000591553.1_RNA NM_001031623.2 NP_001026794.1 Q9Y4E5 ZN451_HUMAN zinc finger protein 451 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 Lung NSC(77;0.145) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) TACGGATGAGTGTTTGCCAGT 0.408 NA C||| 1097 0.21905 0.3676 0.1888 5008 , , NA 20350 0.131 NA 0.2416 False NA ,,, NA NA NA 2504 0.1074 NA NA NA NA 0 C , 1535,2871 669.9+/-402.2 264,1007,932 87 84 85 , -0.1 0 6 dbSNP_100 85 1965,6635 721.9+/-406.4 215,1535,2550 no intron,intron ZNF451 NM_001031623.2,NM_015555.2 , 479,2542,3482 CC,CT,TT 22.8488,34.8389,26.9107 , , 57006933 3500,9506 2203 4300 6503 SO:0001627 intron_variant AB011148 CCDS4960.1, CCDS43477.1, CCDS59026.1 6p12.1 2012-08-08 ENSG00000112200 ENSG00000112200 26036 Zinc fingers, C2H2-type 21091 protein-coding gene gene with protein product 615708 NA 9628581 Standard NM_015555 NM_001031623 NA Approved KIAA0576, COASTER, dJ417I1.1, KIAA1702 uc003pdm.2 Q9Y4E5 OTTHUMG00000014916 ENST00000370706.4:c.1004+40T>C chr6.hg19:g.57006933T>C NA Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1 hg19 CCDS43477.1 0.02 4.651515 GAGxGTT COVERED NOVEL ZNF451-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041035.2 0 6.920139 KEEP 0 0 0 23 712 TT 0.999892 0.999892 0 + 9 60 251 0 0 14.34671 153 60 5579 200 ENST00000370706.4 0.055556 1 ZNF451 26036 __UNKNOWN__ __UNKNOWN__ 6 57012930 57012930 __UNKNOWN__ Silent SNP C C T rs3734738 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:57012930C>T ENST00000370706.4 + 10 2291 c.2047C>T c.(2047-2049)Ctg>Ttg p.L683L RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|ZNF451_ENST00000491832.2_Silent_p.L683L|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|ZNF451_ENST00000357489.3_Silent_p.L683L|RP11-203B9.4_ENST00000591553.1_RNA NM_001031623.2 NP_001026794.1 Q9Y4E5 ZN451_HUMAN zinc finger protein 451 683 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 Lung NSC(77;0.145) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) AGAAGCATTTCTGAGTCATTA 0.348 NA T||| 1096 0.21885 0.3669 0.1888 5008 , , NA 21558 0.131 NA 0.2416 False NA ,,, NA NA NA 2504 0.1074 NA NA NA NA 0 T , 1498,2908 649.1+/-398.8 247,1004,952 52 54 53 2047,2047 0.5 0.2 6 dbSNP_107 53 1952,6646 704.1+/-405.4 215,1522,2562 no coding-synonymous,coding-synonymous ZNF451 NM_001031623.2,NM_015555.2 , 462,2526,3514 TT,TC,CC 22.703,33.9991,26.5303 , 683/1062,683/1014 57012930 3450,9554 2203 4299 6502 SO:0001819 synonymous_variant AB011148 CCDS4960.1, CCDS43477.1, CCDS59026.1 6p12.1 2012-08-08 ENSG00000112200 ENSG00000112200 26036 Zinc fingers, C2H2-type 21091 protein-coding gene gene with protein product 615708 NA 9628581 Standard NM_015555 NM_001031623 NA Approved KIAA0576, COASTER, dJ417I1.1, KIAA1702 uc003pdm.2 Q9Y4E5 OTTHUMG00000014916 ENST00000370706.4:c.2047C>T chr6.hg19:g.57012930C>T NA Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1 hg19 CCDS43477.1 0.02 7.683311 TTTxTGA COVERED NOVEL ZNF451-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041035.2 2 5.955148 KEEP 0 1 35 32 1119 CC 0.999998 0.999998 0 + 10 60 356 0 0 22.400859 226 60 8503 297 ENST00000370706.4 0.042373 1 PRIM2 5558 __UNKNOWN__ __UNKNOWN__ 6 57393144 57393144 __UNKNOWN__ 3'UTR SNP A A T rs3763183 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:57393144A>T ENST00000389488.2 + 0 881 PRIM2_ENST00000607273.1_Missense_Mutation_p.Q265L P49643 PRI2_HUMAN primase, DNA, polypeptide 2 (58kDa) NA NA DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201) nucleoplasm (GO:0005654)|primosome complex (GO:1990077) 4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872) p.Q265L(1) NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1) 59 Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193) TACAGTACCCAGGGAAATGTT 0.299 NA NA NA NA NA NA NA NA NA NA NA 1 Substitution - Missense(1) prostate(1) A LEU/GLN 480,3170 0,480,1345 98 88 91 794 4.7 0.5 6 dbSNP_107 91 913,7231 0,913,3159 yes missense PRIM2 XM_003403439.1 113 0,1393,4504 TT,TA,AA 11.2107,13.1507,11.8111 probably-damaging 265/510 57393144 1393,10401 1825 4072 5897 SO:0001624 3_prime_UTR_variant CCDS75476.1, CCDS75477.1 6p12-p11.1 2013-01-31 2007-06-19 2007-06-19 ENSG00000146143 ENSG00000146143 5558 9370 protein-coding gene gene with protein product 176636 primase, polypeptide 2A (58kD), primase, polypeptide 2A, 58kDa PRIM2A NA 8530050, 20675616 Standard NM_000947 NM_001282487 NA Approved uc003pdx.3 P49643 OTTHUMG00000016190 ENST00000389488.2:c.*878A>T chr6.hg19:g.57393144A>T NA Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413 hg19 0.02 7.344384 CCCxGGG COVERED NOVEL PRIM2-001 KNOWN sequence_error|basic processed_transcript NA protein_coding OTTHUMT00000043468.3 0 10.231899 KEEP 0 0 0 34 1094 AA 0.999998 0.999998 0 + 29 60 1116 0 0 95.471546 101 60 3748 264 ENST00000389488.2 0.223077 1 PRIM2 5558 __UNKNOWN__ __UNKNOWN__ 6 57442365 57442365 __UNKNOWN__ Intron SNP G G A rs79488162 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:57442365G>A ENST00000389488.2 + 11 1107 PRIM2_ENST00000607273.1_Intron P49643 PRI2_HUMAN primase, DNA, polypeptide 2 (58kDa) NA NA DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201) nucleoplasm (GO:0005654)|primosome complex (GO:1990077) 4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872) NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1) 59 Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193) cacccacctcggcctcccaaa 0.483 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS75476.1, CCDS75477.1 6p12-p11.1 2013-01-31 2007-06-19 2007-06-19 ENSG00000146143 ENSG00000146143 5558 9370 protein-coding gene gene with protein product 176636 primase, polypeptide 2A (58kD), primase, polypeptide 2A, 58kDa PRIM2A NA 8530050, 20675616 Standard NM_000947 NM_001282487 NA Approved uc003pdx.3 P49643 OTTHUMG00000016190 ENST00000389488.2:c.1108-24715G>A chr6.hg19:g.57442365G>A NA Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413 hg19 0.02 -0.096496 CTCxGCC UNCOVERED NOVEL PRIM2-001 KNOWN sequence_error|basic processed_transcript NA protein_coding OTTHUMT00000043468.3 2 3.310604 KEEP 1 0 0 11 377 GG 0.992708 0.119558 0 + 2 60 78 0 0 7.095729 4 60 139 33 ENST00000389488.2 0.333333 0.120436 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 58445594 58445594 __UNKNOWN__ IGR SNP A A G rs9377805 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:58445594A>G NA NA XXbac-BPG55C20.7 (147098 upstream) : RP11-143A22.1 (43293 downstream) NA NA NA AATCTCCCCTATTTCCTGAAT 0.378 NA A||| 822 0.164137 0.0484 0.3545 5008 , , NA 18286 0.3601 NA 0.1193 False NA ,,, NA NA NA 2504 0.0297 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.58445594A>G NA hg19 0.02 16.107925 CCTxTTT COVERED NOVEL 0 1 17.753923 KEEP 6 0 0 59 1858 AA 1 1 0 14 60 539 0 0 34.601876 363 60 13120 555 0.037135 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 58776645 58776645 __UNKNOWN__ IGR SNP A A C rs4320399 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:58776645A>C NA NA RP11-143A22.1 (262785 upstream) : None (None downstream) NA NA NA cacacggtggaccatttctct 0.428 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.58776645A>C NA hg19 0.02 12.792939 TGGxCCA COVERED NOVEL 0 16 17.623656 KEEP 15 2 70 83 2641 AA 1 1 0 10 60 335 0 0 19.32385 323 60 11441 537 0.03003 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 58776826 58776826 __UNKNOWN__ IGR SNP A A G rs4292554 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:58776826A>G NA NA RP11-143A22.1 (262966 upstream) : None (None downstream) NA NA NA attccctttgatagagcagtt 0.393 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.58776826A>G NA hg19 0.02 11.586991 TTGxTAG COVERED NOVEL 0 8 10.526505 KEEP 2 0 0 35 1055 AA 0.999998 0.999998 0 8 60 307 0 0 19.289974 232 60 8412 362 0.033333 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 58777500 58777500 __UNKNOWN__ IGR SNP C C T rs4314523 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:58777500C>T NA NA RP11-143A22.1 (263640 upstream) : None (None downstream) NA NA NA gtggaactttcctctttatag 0.403 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.58777500C>T NA hg19 0.02 5.935967 TTTxCTC COVERED NOVEL 0 12 9.232117 KEEP 1 3 89 62 2159 CC 1 1 0 13 60 451 0 0 30.919262 171 60 6341 328 0.070652 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 58777508 58777508 __UNKNOWN__ IGR SNP T T G rs4388318 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:58777508T>G NA NA RP11-143A22.1 (263648 upstream) : None (None downstream) NA NA NA ttcctctttatagagcagtgt 0.398 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.58777508T>G NA hg19 0.02 9.942377 TTAxAGA COVERED NOVEL 0 12 12.205714 KEEP 1 2 70 65 2011 TT 1 1 0 8 60 310 0 0 20.415128 182 60 6614 341 0.042105 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 58777789 58777789 __UNKNOWN__ IGR SNP T T C rs4296911 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:58777789T>C NA NA RP11-143A22.1 (263929 upstream) : None (None downstream) NA NA NA atagaatcattctcagaaaca 0.358 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.58777789T>C NA hg19 0.02 11.874761 CATxCTC COVERED NOVEL 0 14 10.863879 KEEP 4 1 37 49 1493 TT 1 1 0 19 60 704 0 0 50.244986 232 60 8328 379 0.075697 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 58777790 58777790 __UNKNOWN__ IGR SNP C C G rs4928379 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:58777790C>G NA NA RP11-143A22.1 (263930 upstream) : None (None downstream) NA NA NA tagaatcattctcagaaacaa 0.358 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.58777790C>G NA hg19 0.02 11.448588 ATTxTCA COVERED NOVEL 0 14 10.770591 KEEP 4 1 38 49 1721 CC 1 1 0 8 60 308 0 0 19.189119 246 60 9360 382 0.031496 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 58777831 58777831 __UNKNOWN__ IGR SNP T T C rs28787570 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:58777831T>C NA NA RP11-143A22.1 (263971 upstream) : None (None downstream) NA NA NA actcaccgtctttaaactttc 0.363 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.58777831T>C NA hg19 0.02 12.086465 GTCxTTA COVERED NOVEL 0 13 12.473087 KEEP 1 1 33 53 1719 TT 1 1 0 8 60 309 0 0 19.277501 247 60 9141 412 0.031373 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 58778100 58778100 __UNKNOWN__ IGR SNP A A T rs9391506 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:58778100A>T NA NA RP11-143A22.1 (264240 upstream) : None (None downstream) NA NA NA agaaaaggaaatatctttgca 0.368 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.58778100A>T NA hg19 0.02 9.506153 GAAxTAT COVERED NOVEL 0 8 15.318719 KEEP 2 0 0 51 1590 AA 1 1 0 8 59 299 0 0 23.249305 56 60 1985 346 0.125 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 58778519 58778519 __UNKNOWN__ IGR SNP A A G rs4928633 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:58778519A>G NA NA RP11-143A22.1 (264659 upstream) : None (None downstream) NA NA NA cgagtgcaacattcctcttga 0.418 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.58778519A>G NA hg19 0.02 12.068539 AACxTTC COVERED NOVEL 0 13 14.814881 KEEP 1 2 71 74 2327 AA 1 1 0 9 60 314 0 0 19.555404 202 60 7477 431 0.042654 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 58778766 58778766 __UNKNOWN__ IGR SNP T T A rs4928651 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:58778766T>A NA NA RP11-143A22.1 (264906 upstream) : None (None downstream) NA NA NA ttgaagcgtatggtagaaaag 0.378 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.58778766T>A NA hg19 0.02 8.889503 GTAxGGT COVERED NOVEL 0 11 8.957713 KEEP 0 1 29 40 1222 TT 1 1 0 9 60 300 0 0 18.236728 204 60 7458 331 0.042254 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 58779103 58779103 __UNKNOWN__ IGR SNP T T C rs4386837 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:58779103T>C NA NA RP11-143A22.1 (265243 upstream) : None (None downstream) NA NA NA ttgaagcctatggtagaaaag 0.443 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.58779103T>C NA hg19 0.02 10.721863 CTAxGGT COVERED NOVEL 0 7 11.037351 KEEP 0 3 107 74 2299 TT 1 1 0 11 60 397 0 0 24.883838 265 60 9781 454 0.039855 1 PTP4A1 7803 __UNKNOWN__ __UNKNOWN__ 6 64292092 64292092 __UNKNOWN__ 3'UTR SNP G G T rs369141968 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:64292092G>T ENST00000370651.3 + 0 3688 PTP4A1_ENST00000370650.2_3'UTR NM_003463.3 NP_003454.1 Q93096 TP4A1_HUMAN protein tyrosine phosphatase type IVA, member 1 NA NA cell cycle (GO:0007049)|multicellular organismal development (GO:0007275)|positive regulation of cell migration (GO:0030335) cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) protein tyrosine phosphatase activity (GO:0004725) large_intestine(3)|lung(4)|skin(1) 8 all_cancers(3;0.071)|all_epithelial(2;0.0146)|Lung NSC(77;0.175) Epithelial(2;0.0365)|LUSC - Lung squamous cell carcinoma(74;0.0644)|all cancers(2;0.112)|Lung(124;0.13) TTAACCTGAGGTTTTGTTTTT 0.323 NA C||| 20 0.00399361 0.0 0.0 5008 , , NA 14401 0.0188 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA Pancreas(91;1019 1502 28028 38110 51645) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U48296 CCDS4965.1 6q12 2011-06-09 ENSG00000112245 ENSG00000112245 7803 Protein tyrosine phosphatases / Class I Cys-based PTPs : PRLs 9634 protein-coding gene gene with protein product 601585 NA 9642300 Standard NM_003463 NA Approved PTPCAAX1, PRL-1 uc003pel.3 Q93096 OTTHUMG00000014949 ENST00000370651.3:c.*2013G>T chr6.hg19:g.64292092G>T NA B2R6C8|O00648|Q49A54 hg19 CCDS4965.1 0.02 8.345477 GAGxTTT COVERED NOVEL PTP4A1-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041083.2 1 16.553696 KEEP 0 0 0 55 1934 GG 1 1 0 + 7 60 257 0 1 15.454391 222 60 7983 324 ENST00000370651.3 0.030568 1 PHF3 23469 __UNKNOWN__ __UNKNOWN__ 6 64421939 64421939 __UNKNOWN__ Missense_Mutation SNP G G C rs80099131 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:64421939G>C ENST00000262043.3 + 16 4795 c.4455G>C c.(4453-4455)caG>caC p.Q1485H PHF3_ENST00000393387.1_Missense_Mutation_p.Q1485H Q92576 PHF3_HUMAN PHD finger protein 3 1485 NA multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) zinc ion binding (GO:0008270) breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6) 75 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) ACCAGGCCCAGTCAGTGATGG 0.383 NA G||| 11 0.00219649 0.0 0.0 5008 , , NA 9389 0.0079 NA 0.0 False NA ,,, NA NA NA 2504 0.0031 NA NA NA GBM(135;136 1820 29512 34071 46235) NA 0 56 59 58 NA NA 6 NA 64421939 2203 4299 6502 SO:0001583 missense AF091622 CCDS4966.1 6q12 2013-09-24 ENSG00000118482 ENSG00000118482 23469 Zinc fingers, PHD-type 8921 protein-coding gene gene with protein product 607789 NA 11856869 Standard XM_005248701 NA Approved uc003pep.1 Q92576 OTTHUMG00000014952 ENST00000262043.3:c.4455G>C chr6.hg19:g.64421939G>C ENSP00000262043:p.Gln1485His NA A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45 hg19 CCDS4966.1 0.02 8.786336 CCAxTCA COVERED 3 0.0013736263736263737 0 0.0 0 0.0 3 0.005244755244755245 0 0.0 G 6.620 0.482875 0.12581 . . ENSG00000118482 ENST00000515594;ENST00000262043;ENST00000393387 T;T;T 0.47869 0.83;2.12;2.12 5.96 1.94 0.25998 . 0.000000 0.37437 N 0.002090 T 0.13329 0.0323 N 0.19112 0.55 0.32544 N 0.533259 B 0.18741 0.03 B 0.17098 0.017 T 0.05517 -1.0880 10 0.56958 D 0.05 -10.3815 6.5844 0.22612 0.2084:0.0:0.666:0.1256 . 1485 Q92576 PHF3_HUMAN H 754;1485;1485 ENSP00000425338:Q754H;ENSP00000262043:Q1485H;ENSP00000377048:Q1485H ENSP00000262043:Q1485H Q + 3 2 PHF3 64479898 0.670000 0.27512 0.668000 0.29813 0.973000 0.67179 0.746000 0.26275 0.384000 0.24942 -0.119000 0.15052 CAG NOVEL PHF3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041086.2 2 8.126501 KEEP 0 0 0 27 962 GG 0.999988 0.999988 0 + 11 60 382 0 0 24.555712 213 60 7951 279 ENST00000262043.3 0.049107 1 EYS 346007 __UNKNOWN__ __UNKNOWN__ 6 65149185 65149185 __UNKNOWN__ Missense_Mutation SNP T T A rs9353806 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:65149185T>A ENST00000503581.1 - 27 6242 c.5705A>T c.(5704-5706)aAt>aTt p.N1902I EYS_ENST00000370616.2_Missense_Mutation_p.N1902I|EYS_ENST00000370621.3_Missense_Mutation_p.N1902I NM_001142800.1 NP_001136272.1 Q5T1H1 EYS_HUMAN eyes shut homolog (Drosophila) 1902 Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}. NA N -> I (in dbSNP:rs9353806). {ECO:0000269|PubMed:20333770}. detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403) extracellular vesicular exosome (GO:0070062) calcium ion binding (GO:0005509) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 69 ATTTTGTGGATTTAAAGCCAC 0.328 NA T||| 1459 0.291334 0.1793 0.2997 5008 , , NA 14982 0.4593 NA 0.2833 False NA ,,, NA NA NA 2504 0.272 NA NA NA NA 0 66 60 62 NA NA 6 NA 65149185 692 1588 2280 SO:0001583 missense CCDS4967.1, CCDS47445.1, CCDS47446.1 6q12 2014-01-28 2008-10-20 2008-10-20 ENSG00000188107 ENSG00000188107 346007 21555 protein-coding gene gene with protein product 612424 chromosome 6 open reading frame 180, EGF-like-domain, multiple 11, retinitis pigmentosa 25 (autosomal recessive), EGF-like-domain, multiple 10, chromosome 6 open reading frame 178, chromosome 6 open reading frame 179 C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179 NA 18836446, 18976725 Standard XM_294050 NM_001142800 NA Approved dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1 uc011dxu.1 Q5T1H1 OTTHUMG00000014971 ENST00000503581.1:c.5705A>T chr6.hg19:g.65149185T>A ENSP00000424243:p.Asn1902Ile NA A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15 hg19 CCDS47445.1 0.02 2.059411 GGAxTTA COVERED 683 0.31272893772893773 101 0.20528455284552846 117 0.32320441988950277 247 0.4318181818181818 218 0.287598944591029 T 12.83 2.057027 0.36277 . . ENSG00000188107 ENST00000503581;ENST00000370621;ENST00000370616 T;T;T 0.68025 -0.3;-0.3;-0.3 4.33 -1.38 0.09027 Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1); . . . . T 0.20659 0.0497 N 0.08118 0 0.80722 P 0.0 P;P 0.45011 0.848;0.531 B;B 0.41174 0.349;0.118 T 0.03673 -1.1014 8 0.30078 T 0.28 . 4.7675 0.13139 0.0:0.1692:0.3058:0.525 rs9353806;rs52802069;rs9353806 1902;1902 Q5T1H1-1;Q5T1H1 .;EYS_HUMAN I 1902 ENSP00000424243:N1902I;ENSP00000359655:N1902I;ENSP00000359650:N1902I ENSP00000359650:N1902I N - 2 0 EYS 65205906 0.344000 0.24827 0.803000 0.32268 0.390000 0.30446 0.360000 0.20250 0.086000 0.17137 0.482000 0.46254 AAT NOVEL EYS-012 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000359944.1 0 5.116168 KEEP 0 0 0 17 570 TT 0.999366 0.998854 0 - 6 60 223 0 0 15.809917 77 60 2855 127 ENST00000503581.1 0.072289 0.999487 EYS 346007 __UNKNOWN__ __UNKNOWN__ 6 65300143 65300143 __UNKNOWN__ Missense_Mutation SNP G G C rs16895517 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:65300143G>C ENST00000503581.1 - 26 6154 c.5617C>G c.(5617-5619)Ctg>Gtg p.L1873V EYS_ENST00000370616.2_Missense_Mutation_p.L1873V|EYS_ENST00000370621.3_Missense_Mutation_p.L1873V NM_001142800.1 NP_001136272.1 Q5T1H1 EYS_HUMAN eyes shut homolog (Drosophila) 1873 NA L -> V (in dbSNP:rs16895517). {ECO:0000269|PubMed:20333770}. detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403) extracellular vesicular exosome (GO:0070062) calcium ion binding (GO:0005509) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 69 TGAGGTGCCAGAATGGATTCC 0.428 NA G||| 457 0.091254 0.0061 0.1167 5008 , , NA 19844 0.1567 NA 0.0984 False NA ,,, NA NA NA 2504 0.1135 NA NA NA NA 0 G VAL/LEU 39,1345 1,37,654 124 119 120 5617 2 0 6 dbSNP_123 120 445,2737 41,363,1187 yes missense EYS NM_001142800.1 32 42,400,1841 CC,CG,GG 13.9849,2.8179,10.6001 possibly-damaging 1873/3145 65300143 484,4082 692 1591 2283 SO:0001583 missense CCDS4967.1, CCDS47445.1, CCDS47446.1 6q12 2014-01-28 2008-10-20 2008-10-20 ENSG00000188107 ENSG00000188107 346007 21555 protein-coding gene gene with protein product 612424 chromosome 6 open reading frame 180, EGF-like-domain, multiple 11, retinitis pigmentosa 25 (autosomal recessive), EGF-like-domain, multiple 10, chromosome 6 open reading frame 178, chromosome 6 open reading frame 179 C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179 NA 18836446, 18976725 Standard XM_294050 NM_001142800 NA Approved dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1 uc011dxu.1 Q5T1H1 OTTHUMG00000014971 ENST00000503581.1:c.5617C>G chr6.hg19:g.65300143G>C ENSP00000424243:p.Leu1873Val NA A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15 hg19 CCDS47445.1 0.02 21.253067 CCAxAAT COVERED 211 0.09661172161172162 2 0.0040650406504065045 44 0.12154696132596685 86 0.15034965034965034 79 0.10422163588390501 G 0.007 -1.981510 0.00448 0.028179 0.139849 ENSG00000188107 ENST00000503581;ENST00000370621;ENST00000370616 D;D;D 0.84660 -1.88;-1.85;-1.85 5.96 1.96 0.26148 . . . . . T 0.46521 0.1397 N 0.08118 0 0.58432 P 1.999999999946489E-6 B;B 0.06786 0.001;0.0 B;B 0.04013 0.001;0.0 T 0.02214 -1.1194 8 0.23891 T 0.37 . 6.1373 0.20241 0.0956:0.2973:0.4963:0.1108 rs16895517;rs52800058;rs16895517 1873;1873 Q5T1H1-1;Q5T1H1 .;EYS_HUMAN V 1873 ENSP00000424243:L1873V;ENSP00000359655:L1873V;ENSP00000359650:L1873V ENSP00000359650:L1873V L - 1 2 EYS 65356864 0.000000 0.05858 0.000000 0.03702 0.406000 0.30931 -0.025000 0.12413 -0.138000 0.11434 -0.795000 0.03280 CTG NOVEL EYS-012 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000359944.1 4 12.340328 KEEP 0 0 0 41 1478 GG 1 1 0 - 18 60 692 0 0 44.818716 441 60 16981 612 ENST00000503581.1 0.039216 1 EYS 346007 __UNKNOWN__ __UNKNOWN__ 6 65301408 65301408 __UNKNOWN__ Missense_Mutation SNP A A G rs62415828 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:65301408A>G ENST00000503581.1 - 26 4889 c.4352T>C c.(4351-4353)aTa>aCa p.I1451T EYS_ENST00000370616.2_Missense_Mutation_p.I1451T|EYS_ENST00000370621.3_Missense_Mutation_p.I1451T NM_001142800.1 NP_001136272.1 Q5T1H1 EYS_HUMAN eyes shut homolog (Drosophila) 1451 NA I -> T (in dbSNP:rs62415828). {ECO:0000269|PubMed:20333770}. detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403) extracellular vesicular exosome (GO:0070062) calcium ion binding (GO:0005509) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 69 GGAGGCAGCTATAAGCAGGAA 0.448 NA G||| 471 0.0940495 0.0159 0.1182 5008 , , NA 17077 0.1567 NA 0.0984 False NA ,,, NA NA NA 2504 0.1135 NA NA NA NA 0 G THR/ILE 49,1335 1,47,644 73 70 71 4352 0.5 0 6 dbSNP_129 71 447,2735 41,365,1185 yes missense EYS NM_001142800.1 89 42,412,1829 GG,GA,AA 14.0478,3.5405,10.8629 benign 1451/3145 65301408 496,4070 692 1591 2283 SO:0001583 missense CCDS4967.1, CCDS47445.1, CCDS47446.1 6q12 2014-01-28 2008-10-20 2008-10-20 ENSG00000188107 ENSG00000188107 346007 21555 protein-coding gene gene with protein product 612424 chromosome 6 open reading frame 180, EGF-like-domain, multiple 11, retinitis pigmentosa 25 (autosomal recessive), EGF-like-domain, multiple 10, chromosome 6 open reading frame 178, chromosome 6 open reading frame 179 C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179 NA 18836446, 18976725 Standard XM_294050 NM_001142800 NA Approved dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1 uc011dxu.1 Q5T1H1 OTTHUMG00000014971 ENST00000503581.1:c.4352T>C chr6.hg19:g.65301408A>G ENSP00000424243:p.Ile1451Thr NA A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15 hg19 CCDS47445.1 0.02 9.743411 GCTxTAA COVERED 216 0.0989010989010989 7 0.014227642276422764 44 0.12154696132596685 86 0.15034965034965034 79 0.10422163588390501 G 0.006 -2.112469 0.00353 0.035405 0.140478 ENSG00000188107 ENST00000503581;ENST00000370621;ENST00000370616 D;D;D 0.84516 -1.86;-1.84;-1.84 5.74 0.462 0.16695 . . . . . T 0.36771 0.0979 N 0.08118 0 0.53688 P 2.999999999997449E-5 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.08659 -1.0711 8 0.02654 T 1 . 3.308 0.07007 0.1288:0.1081:0.4299:0.3332 rs62415828 1451;1451 Q5T1H1-1;Q5T1H1 .;EYS_HUMAN T 1451 ENSP00000424243:I1451T;ENSP00000359655:I1451T;ENSP00000359650:I1451T ENSP00000359650:I1451T I - 2 0 EYS 65358129 0.906000 0.30813 0.023000 0.16930 0.622000 0.37654 0.108000 0.15396 0.069000 0.16605 -0.186000 0.12905 ATA NOVEL EYS-012 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000359944.1 3 8.724012 KEEP 0 0 0 29 881 AA 0.999997 0.999997 0 - 12 60 460 0 0 31.859516 194 60 6860 264 ENST00000503581.1 0.058252 1 EYS 346007 __UNKNOWN__ __UNKNOWN__ 6 65525121 65525121 __UNKNOWN__ Intron SNP C C T rs1390272 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:65525121C>T ENST00000503581.1 - 22 3781 EYS_ENST00000370616.2_Intron|EYS_ENST00000370621.3_Intron NM_001142800.1 NP_001136272.1 Q5T1H1 EYS_HUMAN eyes shut homolog (Drosophila) NA NA detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403) extracellular vesicular exosome (GO:0070062) calcium ion binding (GO:0005509) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 69 TTGCTGAAAACGTGAACTTGT 0.363 NA T||| 2328 0.464856 0.2549 0.6801 5008 , , NA 17054 0.494 NA 0.5497 False NA ,,, NA NA NA 2504 0.4785 NA NA NA NA 0 T 534,1200 99,336,432 9 9 9 2.9 0.1 6 dbSNP_88 9 2075,1869 574,927,471 no intron EYS NM_001142800.1 673,1263,903 TT,TC,CC 47.3884,30.7958,45.9493 65525121 2609,3069 867 1972 2839 SO:0001627 intron_variant CCDS4967.1, CCDS47445.1, CCDS47446.1 6q12 2014-01-28 2008-10-20 2008-10-20 ENSG00000188107 ENSG00000188107 346007 21555 protein-coding gene gene with protein product 612424 chromosome 6 open reading frame 180, EGF-like-domain, multiple 11, retinitis pigmentosa 25 (autosomal recessive), EGF-like-domain, multiple 10, chromosome 6 open reading frame 178, chromosome 6 open reading frame 179 C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179 NA 18836446, 18976725 Standard XM_294050 NM_001142800 NA Approved dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1 uc011dxu.1 Q5T1H1 OTTHUMG00000014971 ENST00000503581.1:c.3244-1651G>A chr6.hg19:g.65525121C>T NA A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15 hg19 CCDS47445.1 0.02 6.895766 AAAxGTG COVERED NOVEL EYS-012 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000359944.1 0 3.746496 KEEP 0 1 33 24 798 CC 0.999931 0.999931 0 - 11 60 414 0 0 28.406559 179 60 6142 254 ENST00000503581.1 0.057895 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 66546890 66546890 __UNKNOWN__ IGR SNP C C T rs6906232|rs544997152 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:66546890C>T NA NA EYS (129772 upstream) : AC002485.1 (522427 downstream) NA NA NA GTTAATTTCACCAAAAGACAG 0.348 NA T||| 401 0.0800719 0.2073 0.0504 5008 , , NA 20789 0.0675 NA 0.0099 False NA ,,, NA NA NA 2504 0.0143 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.66546890C>T NA hg19 0.02 4.132009 TCAxCAA COVERED NOVEL 0 0 3.611685 KEEP 0 0 0 12 415 CC 0.993634 0.993632 0 7 60 252 0 0 17.062233 109 60 3998 136 0.060345 0.999998 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 66546916 66546916 __UNKNOWN__ IGR SNP T T C rs6932890 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:66546916T>C NA NA EYS (129798 upstream) : AC002485.1 (522401 downstream) NA NA NA GAGTCACAAATTCATCAACTT 0.363 NA T||| 401 0.0800719 0.2073 0.0504 5008 , , NA 19859 0.0675 NA 0.0099 False NA ,,, NA NA NA 2504 0.0143 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.66546916T>C NA hg19 0.02 4.331632 AAAxTCA COVERED NOVEL 0 0 5.404165 KEEP 0 0 0 18 540 TT 0.999859 0.999858 0 9 60 338 0 0 24.351919 107 60 3874 157 0.077586 0.999998 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 66547026 66547026 __UNKNOWN__ IGR SNP G G T rs6905102 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:66547026G>T NA NA EYS (129908 upstream) : AC002485.1 (522291 downstream) NA NA NA CCTGTTACCAGCTGGAATGGA 0.478 NA G||| 401 0.0800719 0.2073 0.0504 5008 , , NA 18995 0.0675 NA 0.0099 False NA ,,, NA NA NA 2504 0.0143 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.66547026G>T NA hg19 0.02 4.431903 CCAxCTG COVERED NOVEL 0 1 5.718483 KEEP 0 0 0 19 666 GG 0.99986 0.999858 0 12 60 416 0 0 30.550256 107 60 4051 155 0.10084 0.999998 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 66547243 66547243 __UNKNOWN__ IGR SNP A A C rs12662058 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:66547243A>C NA NA EYS (130125 upstream) : AC002485.1 (522074 downstream) NA NA NA CAGTGGCTCCAAACTCTTTGG 0.453 NA A||| 296 0.0591054 0.1278 0.0504 5008 , , NA 19229 0.0675 NA 0.0099 False NA ,,, NA NA NA 2504 0.0143 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.66547243A>C NA hg19 0.02 4.550808 TCCxAAC COVERED NOVEL 0 1 3.30984 KEEP 0 0 0 11 342 AA 0.993072 0.99307 0 8 60 287 0 0 19.854549 109 60 3807 144 0.068376 0.999998 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 66547378 66547378 __UNKNOWN__ IGR SNP T T C rs9453452 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:66547378T>C NA NA EYS (130260 upstream) : AC002485.1 (521939 downstream) NA NA NA CAGAGCCAGGTTCCACCTTGG 0.498 NA C||| 401 0.0800719 0.2073 0.0504 5008 , , NA 19260 0.0675 NA 0.0099 False NA ,,, NA NA NA 2504 0.0143 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.66547378T>C NA hg19 0.02 7.151423 AGGxTCC COVERED NOVEL 0 0 8.1254 KEEP 0 0 0 27 886 TT 0.999988 0.999988 0 9 60 343 0 0 22.78132 185 60 6675 277 0.046392 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 66547406 66547406 __UNKNOWN__ IGR SNP C C A rs9445598 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:66547406C>A NA NA EYS (130288 upstream) : AC002485.1 (521911 downstream) NA NA NA CACAGCAGCACCATCACCAGC 0.473 NA C||| 401 0.0800719 0.2073 0.0504 5008 , , NA 19483 0.0675 NA 0.0099 False NA ,,, NA NA NA 2504 0.0143 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.66547406C>A NA hg19 0.02 6.153037 GCAxCAT COVERED NOVEL 0 0 6.621699 KEEP 0 0 0 22 796 CC 0.999879 0.999879 0 9 60 330 0 0 21.481197 185 60 6818 261 0.046392 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 66803921 66803921 __UNKNOWN__ IGR SNP G G T rs73446280 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:66803921G>T NA NA EYS (386803 upstream) : AC002485.1 (265396 downstream) NA NA NA TCTGATTCTCGCCAGGACTTC 0.423 NA g||| 426 0.0850639 0.2262 0.0288 5008 , , NA 20937 0.0764 NA 0.0209 False NA ,,, NA NA NA 2504 0.0092 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.66803921G>T NA hg19 0.02 13.226634 CTCxCCA COVERED NOVEL 0 0 14.144403 KEEP 0 0 0 47 1648 GG 1 1 0 18 60 671 0 0 45.917582 290 60 10162 467 0.058442 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 69146753 69146753 __UNKNOWN__ IGR SNP C C A rs1388044 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:69146753C>A NA NA RP11-406O16.1 (106962 upstream) : AL606923.1 (56577 downstream) NA NA NA gcaaagattacaggtgtgagc 0.453 NA C||| 1828 0.365016 0.2617 0.3689 5008 , , NA 14379 0.6944 NA 0.2555 False NA ,,, NA NA NA 2504 0.2751 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.69146753C>A NA hg19 0.02 -0.078959 TTAxAGG UNCOVERED NOVEL 0 1 2.407928 KEEP 0 0 0 8 289 CC 0.99257 0.076761 0 2 60 76 0 0 6.483903 7 60 261 26 0.222222 0.077336 BAI3 577 __UNKNOWN__ __UNKNOWN__ 6 70048739 70048739 __UNKNOWN__ Intron SNP A A C rs11751775 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:70048739A>C ENST00000370598.1 + 25 4009 BAI3_ENST00000238918.8_Intron|BAI3_ENST00000546190.1_Intron NM_001704.2 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 NA NA G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) AGCTAACTTGAAGCAGCAATT 0.323 NA C||| 1116 0.222843 0.4085 0.2478 5008 , , NA 18909 0.121 NA 0.1909 False NA ,,, NA NA NA 2504 0.092 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB005299 CCDS4968.1 6q12 2014-08-08 ENSG00000135298 ENSG00000135298 577 -, GPCR / Class B : Orphans 945 protein-coding gene gene with protein product 602684 NA 9533023 Standard NM_001704 NA Approved KIAA0550 uc003pev.4 O60242 OTTHUMG00000014982 ENST00000370598.1:c.3189-69A>C chr6.hg19:g.70048739A>C NA B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54 hg19 CCDS4968.1 0.02 5.946127 TTGxAGC COVERED NOVEL BAI3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041120.1 2 3.911318 KEEP 0 0 0 13 409 AA 0.994391 0.994391 0 + 6 60 215 0 0 12.722549 190 60 6705 220 ENST00000370598.1 0.030612 1 BAI3 577 __UNKNOWN__ __UNKNOWN__ 6 70064187 70064187 __UNKNOWN__ Silent SNP G G A rs2296974 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:70064187G>A ENST00000370598.1 + 27 4343 c.3522G>A c.(3520-3522)tcG>tcA p.S1174S BAI3_ENST00000238918.8_Silent_p.S380S|BAI3_ENST00000546190.1_Silent_p.S138S NM_001704.2 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1174 Poly-Ser. NA G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) p.S1174S(1) NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) CAGATTCTTCGAGTTCGTTTC 0.393 NA G||| 904 0.180511 0.2511 0.2421 5008 , , NA 16467 0.121 NA 0.1909 False NA ,,, NA NA NA 2504 0.092 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) G 1145,3261 407.5+/-334.3 138,869,1196 181 166 171 3522 -0.6 1 6 dbSNP_100 171 1691,6909 309.6+/-309.4 158,1375,2767 no coding-synonymous BAI3 NM_001704.2 296,2244,3963 AA,AG,GG 19.6628,25.9873,21.8053 1174/1523 70064187 2836,10170 2203 4300 6503 SO:0001819 synonymous_variant AB005299 CCDS4968.1 6q12 2014-08-08 ENSG00000135298 ENSG00000135298 577 -, GPCR / Class B : Orphans 945 protein-coding gene gene with protein product 602684 NA 9533023 Standard NM_001704 NA Approved KIAA0550 uc003pev.4 O60242 OTTHUMG00000014982 ENST00000370598.1:c.3522G>A chr6.hg19:g.70064187G>A NA B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54 hg19 CCDS4968.1 0.02 17.351796 TTCxAGT COVERED NOVEL BAI3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041120.1 1 14.74704 KEEP 0 0 0 49 1673 GG 1 1 0 + 16 60 586 0 0 36.414713 423 60 15655 600 ENST00000370598.1 0.036446 1 LMBRD1 55788 __UNKNOWN__ __UNKNOWN__ 6 70386247 70386247 __UNKNOWN__ Intron SNP A A G rs3214020 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:70386247A>G ENST00000370577.3 - 16 1739 LMBRD1_ENST00000370570.1_Intron NM_018368.3 NP_060838.3 Q9NUN5 LMBD1_HUMAN LMBR1 domain containing 1 NA NA cobalamin metabolic process (GO:0009235)|insulin receptor internalization (GO:0038016)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase B signaling (GO:0051898)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767) clathrin-coated endocytic vesicle (GO:0045334)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886) cobalamin binding (GO:0031419) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1) 31 TGACAGTACTATGATACAAAT 0.294 NA A||| 612 0.122204 0.3427 0.0389 5008 , , NA 18177 0.0466 NA 0.0159 False NA ,,, NA NA NA 2504 0.0706 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF113224 CCDS4969.1 6q13 2011-05-12 2005-07-25 2005-07-25 ENSG00000168216 ENSG00000168216 55788 23038 protein-coding gene gene with protein product 612625 chromosome 6 open reading frame 209 C6orf209 NA 19136951 Standard NM_018368 NM_018368 NA Approved FLJ11240, bA810I22.1, cblF uc003pfa.3 Q9NUN5 OTTHUMG00000014985 ENST00000370577.3:c.1510-84T>C chr6.hg19:g.70386247A>G NA A8K204|E1P531|Q5VUN6|Q86Y70|Q96FW4|Q9BY56|Q9NZD6 hg19 CCDS4969.1 0.02 6.922341 ACTxTGA COVERED NOVEL LMBRD1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041124.1 3 2.405925 KEEP 0 0 0 8 239 AA 0.99257 0.99257 0 - 6 60 228 0 0 14.14223 181 60 6473 200 ENST00000370577.3 0.032086 1 COL19A1 1310 __UNKNOWN__ __UNKNOWN__ 6 70881783 70881783 __UNKNOWN__ Intron SNP C C G rs3806050 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:70881783C>G ENST00000322773.4 + 41 2670 COL19A1_ENST00000393344.1_Intron NM_001858.4 NP_001849.2 Q14993 COJA1_HUMAN collagen, type XIX, alpha 1 NA NA cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501) collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578) extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674) breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 109 GCAAAAAAATCTTTGCTTTGG 0.348 NA C||| 415 0.0828674 0.1513 0.0605 5008 , , NA 18589 0.1339 NA 0.0199 False NA ,,, NA NA NA 2504 0.0184 NA NA NA NA 0 C 165,1219 9,147,536 80 71 74 -4.2 0 6 dbSNP_107 74 56,3126 1,54,1536 no intron COL19A1 NM_001858.4 10,201,2072 GG,GC,CC 1.7599,11.922,4.8401 70881783 221,4345 692 1591 2283 SO:0001627 intron_variant CCDS4970.1 6q12-q13 2013-01-16 ENSG00000082293 ENSG00000082293 1310 Collagens 2196 protein-coding gene gene with protein product 120165 NA 7916703, 9143499 Standard NM_001858 NA Approved uc003pfc.1 Q14993 OTTHUMG00000014987 ENST00000322773.4:c.2569-73C>G chr6.hg19:g.70881783C>G NA Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2 hg19 CCDS4970.1 0.02 6.880363 AATxTTT COVERED NOVEL COL19A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041127.1 2 2.70855 KEEP 0 0 0 9 310 CC 0.99254 0.99254 0 + 9 60 344 0 0 23.432161 160 60 5936 199 ENST00000322773.4 0.053254 1 COL19A1 1310 __UNKNOWN__ __UNKNOWN__ 6 70919443 70919443 __UNKNOWN__ 3'UTR SNP A A G rs552628 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:70919443A>G ENST00000322773.4 + 0 5996 COL19A1_ENST00000393344.1_3'UTR NM_001858.4 NP_001849.2 Q14993 COJA1_HUMAN collagen, type XIX, alpha 1 NA NA cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501) collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578) extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674) breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 109 TAGAGAAACAAGGCTGTATCC 0.368 NA G||| 1772 0.353834 0.348 0.464 5008 , , NA 18702 0.4296 NA 0.2972 False NA ,,, NA NA NA 2504 0.2638 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS4970.1 6q12-q13 2013-01-16 ENSG00000082293 ENSG00000082293 1310 Collagens 2196 protein-coding gene gene with protein product 120165 NA 7916703, 9143499 Standard NM_001858 NA Approved uc003pfc.1 Q14993 OTTHUMG00000014987 ENST00000322773.4:c.*2465A>G chr6.hg19:g.70919443A>G NA Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2 hg19 CCDS4970.1 0.02 6.734242 ACAxGGC COVERED NOVEL COL19A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041127.1 2 6.016533 KEEP 0 0 0 20 597 AA 0.999863 0.999863 0 + 8 60 295 0 0 19.463639 155 60 5692 209 ENST00000322773.4 0.04908 1 COL19A1 1310 __UNKNOWN__ __UNKNOWN__ 6 70919597 70919597 __UNKNOWN__ 3'UTR SNP C C T rs529805 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:70919597C>T ENST00000322773.4 + 0 6150 COL19A1_ENST00000393344.1_3'UTR NM_001858.4 NP_001849.2 Q14993 COJA1_HUMAN collagen, type XIX, alpha 1 NA NA cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501) collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578) extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674) breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 109 AGTTGAGATTCGGCAGTTGCC 0.403 NA T||| 1688 0.337061 0.2882 0.4582 5008 , , NA 18237 0.4296 NA 0.2962 False NA ,,, NA NA NA 2504 0.2638 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS4970.1 6q12-q13 2013-01-16 ENSG00000082293 ENSG00000082293 1310 Collagens 2196 protein-coding gene gene with protein product 120165 NA 7916703, 9143499 Standard NM_001858 NA Approved uc003pfc.1 Q14993 OTTHUMG00000014987 ENST00000322773.4:c.*2619C>T chr6.hg19:g.70919597C>T NA Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2 hg19 CCDS4970.1 0.02 1.865434 ATTxGGC COVERED NOVEL COL19A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041127.1 0 2.407347 KEEP 0 0 0 8 261 CC 0.99257 0.989754 0 + 4 60 142 0 0 9.427087 67 60 2251 94 ENST00000322773.4 0.056338 0.997163 COL9A1 1297 __UNKNOWN__ __UNKNOWN__ 6 70963156 70963156 __UNKNOWN__ Intron SNP T T G rs701690 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:70963156T>G ENST00000357250.6 - 26 1878 COL9A1_ENST00000370499.4_Intron|COL9A1_ENST00000489611.1_Intron|COL9A1_ENST00000320755.7_Intron NM_001851.4 NP_001842.3 P20849 CO9A1_HUMAN collagen, type IX, alpha 1 NA NA axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894) collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578) extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4) 80 TACACAATCCTAGTTTAATCA 0.398 NA g||| 1849 0.369209 0.5113 0.2752 5008 , , NA 17604 0.2927 NA 0.4284 False NA ,,, NA NA NA 2504 0.2618 NA NA NA NA 0 A , 2112,2294 600.2+/-389.4 498,1116,589 91 88 89 , -0.8 0 6 dbSNP_86 89 3570,5030 629.1+/-398.2 724,2122,1454 no intron,intron COL9A1 NM_001851.4,NM_078485.3 , 1222,3238,2043 GG,GT,TT 41.5116,47.9346,43.6875 , , 70963156 5682,7324 2203 4300 6503 SO:0001627 intron_variant CCDS4971.1, CCDS47447.1 6q13 2013-05-07 ENSG00000112280 ENSG00000112280 1297 Proteoglycans / Extracellular Matrix : Collagen proteoglycans, Collagens 2217 protein-coding gene gene with protein product 120210 NA 1429648 Standard NM_001851 NA Approved uc003pfg.4 P20849 OTTHUMG00000014988 ENST00000357250.6:c.1720-24A>C chr6.hg19:g.70963156T>G NA Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3 hg19 CCDS4971.1 0.02 14.776403 TCCxAGT COVERED NOVEL COL9A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041131.2 1 8.42554 KEEP 0 0 0 28 884 TT 0.999997 0.999997 0 - 9 60 344 0 0 21.135556 292 60 11098 449 ENST00000357250.6 0.0299 1 COL9A1 1297 __UNKNOWN__ __UNKNOWN__ 6 70963232 70963232 __UNKNOWN__ Intron SNP A A G rs701689 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:70963232A>G ENST00000357250.6 - 26 1878 COL9A1_ENST00000370499.4_Intron|COL9A1_ENST00000489611.1_Intron|COL9A1_ENST00000320755.7_Intron NM_001851.4 NP_001842.3 P20849 CO9A1_HUMAN collagen, type IX, alpha 1 NA NA axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894) collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578) extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4) 80 GGGAATCATGATAACCTCAAA 0.418 NA G||| 1849 0.369209 0.5113 0.2752 5008 , , NA 16092 0.2927 NA 0.4284 False NA ,,, NA NA NA 2504 0.2618 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS4971.1, CCDS47447.1 6q13 2013-05-07 ENSG00000112280 ENSG00000112280 1297 Proteoglycans / Extracellular Matrix : Collagen proteoglycans, Collagens 2217 protein-coding gene gene with protein product 120210 NA 1429648 Standard NM_001851 NA Approved uc003pfg.4 P20849 OTTHUMG00000014988 ENST00000357250.6:c.1720-100T>C chr6.hg19:g.70963232A>G NA Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3 hg19 CCDS4971.1 0.02 6.326464 ATGxTAA COVERED NOVEL COL9A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041131.2 1 2.707843 KEEP 0 0 0 9 279 AA 0.99254 0.99254 0 - 6 60 220 0 0 13.232546 189 60 7040 231 ENST00000357250.6 0.030769 1 SMAP1 60682 __UNKNOWN__ __UNKNOWN__ 6 71378313 71378313 __UNKNOWN__ Intron SNP C C T rs4707842 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:71378313C>T ENST00000370455.3 + 1 366 SMAP1_ENST00000422334.2_Intron|SMAP1_ENST00000316999.5_Intron|SMAP1_ENST00000370452.3_Intron NM_001044305.1|NM_001281440.1 NP_001037770.1|NP_001268369.1 Q8IYB5 SMAP1_HUMAN small ArfGAP 1 NA NA positive regulation of erythrocyte differentiation (GO:0045648)|regulation of ARF GTPase activity (GO:0032312)|regulation of clathrin-mediated endocytosis (GO:2000369) cytoplasm (GO:0005737)|plasma membrane (GO:0005886) ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270) breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1) 15 ACTCCGGGCTCGGATTCTTGG 0.562 NA C||| 1156 0.230831 0.3298 0.1311 5008 , , NA 15811 0.5248 NA 0.0467 False NA ,,, NA NA NA 2504 0.0542 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK023221 CCDS4973.1, CCDS43478.1, CCDS64459.1, CCDS75478.1 6q12-q13 2009-11-30 2008-09-05 ENSG00000112305 ENSG00000112305 60682 ADP-ribosylation factor GTPase activating proteins 19651 protein-coding gene gene with protein product 611372 stromal membrane-associated protein 1, stromal membrane-associated GTPase-activating protein 1 NA 9644265, 12119110 Standard NM_001044305 NM_001044305 NA Approved FLJ13159, SMAP-1 uc003pfr.3 Q8IYB5 OTTHUMG00000014996 ENST00000370455.3:c.118+469C>T chr6.hg19:g.71378313C>T NA Q53H70|Q5SYQ2|Q6PK24|Q8NDH4|Q96L38|Q96L39|Q9H8X4 hg19 CCDS43478.1 0.02 4.114476 GCTxGGA COVERED NOVEL SMAP1-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041149.1 1 16.551903 KEEP 0 0 0 55 1861 CC 1 0.999999 0 + 9 60 324 0 0 22.781303 112 60 4099 219 ENST00000370455.3 0.07438 0.999999 SMAP1 60682 __UNKNOWN__ __UNKNOWN__ 6 71547572 71547572 __UNKNOWN__ Intron SNP A A T rs7748778 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:71547572A>T ENST00000370455.3 + 7 912 SMAP1_ENST00000316999.5_Intron|SMAP1_ENST00000370452.3_Intron NM_001044305.1|NM_001281440.1 NP_001037770.1|NP_001268369.1 Q8IYB5 SMAP1_HUMAN small ArfGAP 1 NA NA positive regulation of erythrocyte differentiation (GO:0045648)|regulation of ARF GTPase activity (GO:0032312)|regulation of clathrin-mediated endocytosis (GO:2000369) cytoplasm (GO:0005737)|plasma membrane (GO:0005886) ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270) breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1) 15 CAAAAAATTGATCCTAGTTGT 0.323 NA A||| 1089 0.217452 0.3283 0.0965 5008 , , NA 13987 0.4821 NA 0.0487 False NA ,,, NA NA NA 2504 0.0542 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK023221 CCDS4973.1, CCDS43478.1, CCDS64459.1, CCDS75478.1 6q12-q13 2009-11-30 2008-09-05 ENSG00000112305 ENSG00000112305 60682 ADP-ribosylation factor GTPase activating proteins 19651 protein-coding gene gene with protein product 611372 stromal membrane-associated protein 1, stromal membrane-associated GTPase-activating protein 1 NA 9644265, 12119110 Standard NM_001044305 NM_001044305 NA Approved FLJ13159, SMAP-1 uc003pfr.3 Q8IYB5 OTTHUMG00000014996 ENST00000370455.3:c.664+841A>T chr6.hg19:g.71547572A>T NA Q53H70|Q5SYQ2|Q6PK24|Q8NDH4|Q96L38|Q96L39|Q9H8X4 hg19 CCDS43478.1 0.02 14.873556 TTGxTCC COVERED 524 0.23992673992673993 162 0.32926829268292684 35 0.09668508287292818 285 0.4982517482517482 42 0.055408970976253295 A 8.350 0.830791 0.16820 . . ENSG00000112305 ENST00000370442 . . . 4.56 2.14 0.27477 . . . . . . . . . . . 0.58432 P 1.0000000000287557E-6 . . . . . . . . . . . . . . 6.1663 0.20392 0.7942:0.0:0.2058:0.0 rs7748778;rs60100033;rs7748778 . . . C 163 . . X + 3 0 SMAP1 71604293 0.000000 0.05858 0.001000 0.08648 0.001000 0.01503 0.104000 0.15313 0.273000 0.22049 -0.371000 0.07208 TGA NOVEL SMAP1-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041149.1 2 21.061731 KEEP 0 0 0 70 2182 AA 1 1 0 + 21 60 767 0 0 51.435343 360 60 13255 540 ENST00000370455.3 0.055118 1 B3GAT2 135152 __UNKNOWN__ __UNKNOWN__ 6 71568130 71568130 __UNKNOWN__ 3'UTR SNP G G C rs13174 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:71568130G>C ENST00000230053.6 - 0 4816 SMAP1_ENST00000370455.3_Intron|SMAP1_ENST00000316999.5_Intron|SMAP1_ENST00000370452.3_Intron NM_080742.2 NP_542780.1 Q9NPZ5 B3GA2_HUMAN beta-1,3-glucuronyltransferase 2 NA NA carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281) Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021) galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|metal ion binding (GO:0046872) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1) 16 TGTTATTATCGCTATTTTAGA 0.289 NA N||| 4063 0.811302 0.9773 0.7464 5008 , , NA 14037 0.9167 NA 0.6481 False NA ,,, NA NA NA 2504 0.6922 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB075843 CCDS4974.1 6q12 2014-07-08 2014-07-08 ENSG00000112309 ENSG00000112309 135152 2.4.1.135 Beta-1,3-glucuronyltransferases 922 protein-coding gene gene with protein product glucuronosyltransferase S, galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 2 607497 NA 12383500 Standard NM_080742 NM_080742 NA Approved GlcAT-S uc003pfv.3 Q9NPZ5 OTTHUMG00000014997 ENST00000230053.6:c.*3236C>G chr6.hg19:g.71568130G>C NA Q5JS09|Q8TF38|Q96NK4 hg19 CCDS4974.1 0.02 11.328155 ATCxCTA COVERED NOVEL B3GAT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041150.2 4 11.26995 KEEP 0 1 30 48 1640 GG 1 1 0 - 18 60 658 1 0 45.564088 256 60 8777 380 ENST00000230053.6 0.065693 1 B3GAT2 135152 __UNKNOWN__ __UNKNOWN__ 6 71569129 71569129 __UNKNOWN__ 3'UTR SNP C C T rs3734369 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:71569129C>T ENST00000230053.6 - 0 3817 SMAP1_ENST00000370455.3_Intron|SMAP1_ENST00000316999.5_Intron|SMAP1_ENST00000370452.3_Intron NM_080742.2 NP_542780.1 Q9NPZ5 B3GA2_HUMAN beta-1,3-glucuronyltransferase 2 NA NA carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281) Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021) galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|metal ion binding (GO:0046872) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1) 16 GGTATGAAGACGTGATCTGCT 0.378 NA c||| 686 0.136981 0.0424 0.072 5008 , , NA 21065 0.4772 NA 0.0457 False NA ,,, NA NA NA 2504 0.0542 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB075843 CCDS4974.1 6q12 2014-07-08 2014-07-08 ENSG00000112309 ENSG00000112309 135152 2.4.1.135 Beta-1,3-glucuronyltransferases 922 protein-coding gene gene with protein product glucuronosyltransferase S, galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 2 607497 NA 12383500 Standard NM_080742 NM_080742 NA Approved GlcAT-S uc003pfv.3 Q9NPZ5 OTTHUMG00000014997 ENST00000230053.6:c.*2237G>A chr6.hg19:g.71569129C>T NA Q5JS09|Q8TF38|Q96NK4 hg19 CCDS4974.1 0.02 15.319117 AGAxGTG COVERED NOVEL B3GAT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041150.2 0 10.230697 KEEP 0 0 0 34 1113 CC 0.999998 0.999998 0 - 17 60 625 0 0 41.047573 335 60 11023 432 ENST00000230053.6 0.048295 1 OGFRL1 79627 __UNKNOWN__ __UNKNOWN__ 6 71998778 71998778 __UNKNOWN__ Missense_Mutation SNP T T C rs112585190 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:71998778T>C ENST00000370435.4 + 1 273 c.139T>C c.(139-141)Tcc>Ccc p.S47P RP11-154D6.1_ENST00000591156.1_RNA|RP11-154D6.1_ENST00000588612.1_RNA|RP11-154D6.1_ENST00000586232.1_RNA|RP11-154D6.1_ENST00000412751.1_RNA|RP11-154D6.1_ENST00000587253.1_RNA|RP11-154D6.1_ENST00000423255.1_RNA NM_024576.3 NP_078852.3 Q5TC84 OGRL1_HUMAN opioid growth factor receptor-like 1 47 NA S -> P (in dbSNP:rs112585190). {ECO:0000269|PubMed:16192744}. membrane (GO:0016020) receptor activity (GO:0004872) NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1) 13 GGGGCAGGAGTCCGAGCAGCC 0.796 NA C||| 1123 0.224241 0.3548 0.2133 5008 , , NA 3688 0.2698 NA 0.1044 False NA ,,, NA NA NA 2504 0.1319 NA NA NA NA 0 C PRO/SER 465,2319 12,441,939 2 3 2 139 2.2 1 6 dbSNP_132 2 400,5460 12,376,2542 no missense OGFRL1 NM_024576.3 74 24,817,3481 CC,CT,TT 6.8259,16.7026,10.0069 benign 47/452 71998778 865,7779 1392 2930 4322 SO:0001583 missense CCDS34482.1 6q13 2008-02-05 ENSG00000119900 ENSG00000119900 79627 21378 protein-coding gene gene with protein product NA Standard NM_024576 NM_024576 NA Approved dJ331H24.1 uc003pfx.1 Q5TC84 OTTHUMG00000015000 ENST00000370435.4:c.139T>C chr6.hg19:g.71998778T>C ENSP00000359464:p.Ser47Pro NA Q2TAC1|Q8NEQ4|Q9H7B5 hg19 CCDS34482.1 0.02 2.03129 GAGxCCG COVERED 485 0.22206959706959706 176 0.35772357723577236 83 0.2292817679558011 148 0.25874125874125875 78 0.10290237467018469 C 10.21 1.286311 0.23478 0.167026 0.068259 ENSG00000119900 ENST00000370435 T 0.44881 0.91 2.22 2.22 0.28083 . 1.145600 0.07006 N 0.824238 T 0.07683 0.0193 N 0.08118 0 0.52501 P 4.8000000000048004E-5 B 0.02656 0.0 B 0.01281 0.0 T 0.27054 -1.0085 9 0.30078 T 0.28 4.6322 4.7233 0.12929 0.0:0.6378:0.2215:0.1407 . 47 Q5TC84 OGRL1_HUMAN P 47 ENSP00000359464:S47P ENSP00000359464:S47P S + 1 0 OGFRL1 72055499 0.989000 0.36119 0.984000 0.44739 0.906000 0.53458 0.871000 0.28023 0.272000 0.22027 -0.695000 0.03696 TCC NOVEL OGFRL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041153.2 0 14.405644 KEEP 0 0 0 48 1410 TT 1 0.998696 0 + 5 60 159 0 0 10.643705 70 60 2265 150 ENST00000370435.4 0.066667 0.998696 OGFRL1 79627 __UNKNOWN__ __UNKNOWN__ 6 72006512 72006512 __UNKNOWN__ Silent SNP T T C rs2273888 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:72006512T>C ENST00000370435.4 + 6 818 c.684T>C c.(682-684)caT>caC p.H228H RP11-154D6.1_ENST00000591156.1_RNA|RP11-154D6.1_ENST00000588612.1_RNA|RP3-331H24.5_ENST00000602823.1_lincRNA|RP11-154D6.1_ENST00000432050.1_RNA|RP11-154D6.1_ENST00000586232.1_RNA|RP11-154D6.1_ENST00000586030.1_RNA|RP11-154D6.1_ENST00000412751.1_RNA|RP11-154D6.1_ENST00000587253.1_RNA|RP11-154D6.1_ENST00000423255.1_RNA NM_024576.3 NP_078852.3 Q5TC84 OGRL1_HUMAN opioid growth factor receptor-like 1 228 NA membrane (GO:0016020) receptor activity (GO:0004872) NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1) 13 GATTTCAGCATCTGAATGAGT 0.408 NA C||| 1081 0.215855 0.323 0.2104 5008 , , NA 16017 0.2708 NA 0.1044 False NA ,,, NA NA NA 2504 0.1329 NA NA NA NA 0 C 1178,3212 639.8+/-397.2 150,878,1167 54 60 58 684 1.6 1 6 dbSNP_100 58 873,7719 765.6+/-407.6 51,771,3474 no coding-synonymous OGFRL1 NM_024576.3 201,1649,4641 CC,CT,TT 10.1606,26.8337,15.7988 228/452 72006512 2051,10931 2195 4296 6491 SO:0001819 synonymous_variant CCDS34482.1 6q13 2008-02-05 ENSG00000119900 ENSG00000119900 79627 21378 protein-coding gene gene with protein product NA Standard NM_024576 NM_024576 NA Approved dJ331H24.1 uc003pfx.1 Q5TC84 OTTHUMG00000015000 ENST00000370435.4:c.684T>C chr6.hg19:g.72006512T>C NA Q2TAC1|Q8NEQ4|Q9H7B5 hg19 CCDS34482.1 0.02 16.325514 GCAxCTG COVERED NOVEL OGFRL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041153.2 3 28.282171 KEEP 0 0 0 94 2991 TT 1 1 0 + 18 60 667 0 0 44.445053 334 60 12333 567 ENST00000370435.4 0.051136 1 OGFRL1 79627 __UNKNOWN__ __UNKNOWN__ 6 72010963 72010963 __UNKNOWN__ Intron SNP G G A rs9346458 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:72010963G>A ENST00000370435.4 + 7 826 RP11-154D6.1_ENST00000591156.1_RNA|RP11-154D6.1_ENST00000588612.1_RNA|RP3-331H24.5_ENST00000602823.1_lincRNA|RP11-154D6.1_ENST00000432050.1_RNA|RP11-154D6.1_ENST00000586232.1_RNA|RP11-154D6.1_ENST00000586030.1_RNA|RP11-154D6.1_ENST00000412751.1_RNA|RP11-154D6.1_ENST00000587253.1_RNA|RP11-154D6.1_ENST00000423255.1_RNA NM_024576.3 NP_078852.3 Q5TC84 OGRL1_HUMAN opioid growth factor receptor-like 1 NA NA membrane (GO:0016020) receptor activity (GO:0004872) NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1) 13 ATGGCATTAGGAAGTCATTAC 0.338 NA A||| 3047 0.608427 0.8374 0.6902 5008 , , NA 17847 0.626 NA 0.4165 False NA ,,, NA NA NA 2504 0.4202 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS34482.1 6q13 2008-02-05 ENSG00000119900 ENSG00000119900 79627 21378 protein-coding gene gene with protein product NA Standard NM_024576 NM_024576 NA Approved dJ331H24.1 uc003pfx.1 Q5TC84 OTTHUMG00000015000 ENST00000370435.4:c.693-126G>A chr6.hg19:g.72010963G>A NA Q2TAC1|Q8NEQ4|Q9H7B5 hg19 CCDS34482.1 0.02 6.32623 TAGxAAG COVERED NOVEL OGFRL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041153.2 0 3.912633 KEEP 0 0 0 13 447 GG 0.994391 0.994391 0 + 9 60 329 0 0 22.056807 155 60 5487 177 ENST00000370435.4 0.054878 1 OOEP 441161 __UNKNOWN__ __UNKNOWN__ 6 74079464 74079464 __UNKNOWN__ Intron SNP C C T rs2280286 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:74079464C>T ENST00000370363.1 - 3 518 OOEP-AS1_ENST00000445350.2_RNA|OOEP_ENST00000370359.5_Missense_Mutation_p.A18T A6NGQ2 OOEP_HUMAN oocyte expressed protein NA NA cellular protein complex assembly (GO:0043623)|embryo implantation (GO:0007566)|embryonic pattern specification (GO:0009880)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|protein phosphorylation (GO:0006468) apical part of cell (GO:0045177)|cell cortex (GO:0005938)|protein complex (GO:0043234) RNA binding (GO:0003723) large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 8 AGGGAGTGGGCCGGAGTCTGT 0.647 NA C||| 525 0.104832 0.1256 0.1844 5008 , , NA 15187 0.1994 NA 0.002 False NA ,,, NA NA NA 2504 0.0286 NA NA NA NA 0 C THR/ALA 383,3899 18,347,1776 52 63 59 52 -2.1 0 6 dbSNP_100 59 43,8481 1,41,4220 yes missense OOEP NM_001080507.2 58 19,388,5996 TT,TC,CC 0.5045,8.9444,3.3266 possibly-damaging 18/150 74079464 426,12380 2141 4262 6403 SO:0001627 intron_variant BC024931 CCDS47451.1 6q13 2012-02-22 2012-02-22 2007-11-13 ENSG00000203907 ENSG00000203907 441161 21382 protein-coding gene gene with protein product KH homology domain containing 2 611689 chromosome 6 open reading frame 156, oocyte expressed protein homolog (dog) C6orf156 NA 17913455 Standard NM_001080507 NM_001080507 NA Approved Em:AC019205.2, KHDC2 uc003pgu.4 A6NGQ2 OTTHUMG00000150057 ENST00000370363.1:c.26-356G>A chr6.hg19:g.74079464C>T NA A6NIN5|A9UIB7 hg19 0.02 10.024801 GGGxCGG COVERED 249 0.11401098901098901 68 0.13821138211382114 63 0.17403314917127072 116 0.20279720279720279 2 0.002638522427440633 C 8.113 0.779319 0.16120 0.089444 0.005045 ENSG00000203907 ENST00000370359 T 0.13420 2.59 3.25 -2.13 0.07144 . . . . . T 0.01254 0.0041 N 0.24115 0.695 0.80722 P 0.0 B 0.16396 0.017 B 0.12837 0.008 T 0.44802 -0.9304 8 0.05351 T 0.99 . 0.4507 0.00501 0.3559:0.2699:0.1749:0.1993 rs2280286;rs52827536;rs2280286 18 A6NGQ2 OOEP_HUMAN T 18 ENSP00000359384:A18T ENSP00000359384:A18T A - 1 0 OOEP 74136185 0.000000 0.05858 0.000000 0.03702 0.006000 0.05464 -0.151000 0.10175 -0.508000 0.06540 -0.169000 0.13324 GCC NOVEL OOEP-001 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000041200.1 0 22.874581 KEEP 0 0 0 76 2743 CC 1 1 0 - 11 60 377 0 0 22.703755 276 60 10256 495 ENST00000370363.1 0.038328 1 DDX43 55510 __UNKNOWN__ __UNKNOWN__ 6 74111770 74111770 __UNKNOWN__ Intron SNP T T C rs3757107 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:74111770T>C ENST00000370336.4 + 4 726 DDX43_ENST00000539829.1_Intron NM_018665.2 NP_061135.2 Q9NXZ2 DDX43_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 NA NA ATP catabolic process (GO:0006200) intracellular (GO:0005622) ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723) NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 24 CAGTTTTTATTCTCTGTACAA 0.308 NA C||| 396 0.0790735 0.0658 0.1715 5008 , , NA 17561 0.1627 NA 0.0 False NA ,,, NA NA NA 2504 0.0266 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS4977.1 6q13 2014-01-21 ENSG00000080007 ENSG00000080007 55510 DEAD-boxes 18677 protein-coding gene gene with protein product cancer/testis antigen 13 606286 NA 10919659 Standard NM_018665 NM_018665 NA Approved HAGE, DKFZp434H2114, CT13 uc003pgw.3 Q9NXZ2 OTTHUMG00000015033 ENST00000370336.4:c.568+57T>C chr6.hg19:g.74111770T>C NA B4E0C8|Q6NXR1 hg19 CCDS4977.1 0.02 7.83562 TATxCTC COVERED NOVEL DDX43-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041219.3 5 4.814206 KEEP 0 0 0 16 507 TT 0.997832 0.997832 0 + 9 60 316 0 0 19.405944 221 60 7958 257 ENST00000370336.4 0.03913 1 EEF1A1 1915 __UNKNOWN__ __UNKNOWN__ 6 74227952 74227952 __UNKNOWN__ Silent SNP G G A rs200704078 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:74227952G>A ENST00000316292.9 - 6 2056 c.1065C>T c.(1063-1065)gcC>gcT p.A355A EEF1A1_ENST00000309268.6_Silent_p.A355A|EEF1A1_ENST00000331523.2_Silent_p.A355A|EEF1A1_ENST00000491404.1_Intron NM_001402.5 NP_001393.1 P68104 EF1A1_HUMAN eukaryotic translation elongation factor 1 alpha 1 355 NA cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414) cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886) GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation elongation factor activity (GO:0003746) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3) 18 GGGCATAGCCGGCGCTTATTT 0.448 NA G||| 2 0.000399361 0.0 0.0 5008 , , NA 22236 0.0 NA 0.001 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 41 45 43 NA NA 6 NA 74227952 2200 4299 6499 SO:0001819 synonymous_variant BC019669 CCDS4980.1 6q14.1 2010-06-30 2004-11-19 ENSG00000156508 ENSG00000156508 1915 3189 protein-coding gene gene with protein product 130590 leukocyte receptor cluster (LRC) member 7 EF1A, EEF1A, LENG7 NA 8812466, 10941842 Standard NM_001402 NM_001402 NA Approved EE1A1 uc003phj.3 P68104 OTTHUMG00000015031 ENST00000316292.9:c.1065C>T chr6.hg19:g.74227952G>A NA P04719|P04720|Q6IQ15 hg19 CCDS4980.1 0.02 2.041988 GCCxGCG COVERED NOVEL EEF1A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041210.2 0 13.240217 KEEP 0 0 0 44 1428 GG 1 0.999622 0 - 5 24 189 0 0 13.029289 80 60 2644 156 ENST00000316292.9 0.058824 0.999622 CD109 135228 __UNKNOWN__ __UNKNOWN__ 6 74530416 74530416 __UNKNOWN__ Intron SNP C C T rs11753946 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:74530416C>T ENST00000287097.5 + 32 4274 CD109_ENST00000422508.2_Intron|CD109_ENST00000437994.2_Intron Q6YHK3 CD109_HUMAN CD109 molecule NA NA negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045) anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886) serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431) NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 GTACAGGAGGCGGGGAGGCAG 0.398 NA c||| 1114 0.222444 0.0711 0.3127 5008 , , NA 18078 0.3046 NA 0.2922 False NA ,,, NA NA NA 2504 0.2065 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF410459 CCDS4982.1, CCDS55038.1, CCDS55039.1 6q14.1 2008-02-05 2006-03-28 ENSG00000156535 ENSG00000156535 135228 CD molecules 21685 protein-coding gene gene with protein product 608859 CD109 antigen (Gov platelet alloantigens) NA 11861284, 11861285 Standard NM_133493 XM_005248659 NA Approved FLJ38569, DKFZp762L1111, CPAMD7 uc003php.3 Q6YHK3 OTTHUMG00000015040 ENST00000287097.5:c.4162+129C>T chr6.hg19:g.74530416C>T NA A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3 hg19 CCDS4982.1 0.02 3.976552 AGGxGGG COVERED NOVEL CD109-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000041230.3 2 6.92155 KEEP 0 0 0 23 789 CC 0.999892 0.999888 0 + 5 60 184 0 0 11.876261 109 60 3662 154 ENST00000287097.5 0.04386 0.999996 CD109 135228 __UNKNOWN__ __UNKNOWN__ 6 74533983 74533983 __UNKNOWN__ 3'UTR SNP T T G rs3751645 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:74533983T>G ENST00000287097.5 + 0 5076 CD109_ENST00000422508.2_3'UTR|CD109_ENST00000437994.2_3'UTR Q6YHK3 CD109_HUMAN CD109 molecule NA NA negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045) anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886) serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431) NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 CTCTTTTTCCTCTGTAGAGAA 0.468 NA T||| 1117 0.223043 0.0635 0.3141 5008 , , NA 15164 0.3185 NA 0.2922 False NA ,,, NA NA NA 2504 0.2045 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF410459 CCDS4982.1, CCDS55038.1, CCDS55039.1 6q14.1 2008-02-05 2006-03-28 ENSG00000156535 ENSG00000156535 135228 CD molecules 21685 protein-coding gene gene with protein product 608859 CD109 antigen (Gov platelet alloantigens) NA 11861284, 11861285 Standard NM_133493 XM_005248659 NA Approved FLJ38569, DKFZp762L1111, CPAMD7 uc003php.3 Q6YHK3 OTTHUMG00000015040 ENST00000287097.5:c.*626T>G chr6.hg19:g.74533983T>G NA A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3 hg19 CCDS4982.1 0.02 4.138101 TCCxCTG COVERED NOVEL CD109-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000041230.3 0 3.912139 KEEP 0 0 0 13 424 TT 0.994391 0.99438 0 + 5 60 173 0 0 10.92118 102 60 3724 144 ENST00000287097.5 0.046729 0.999989 COL12A1 1303 __UNKNOWN__ __UNKNOWN__ 6 75830983 75830983 __UNKNOWN__ Intron SNP C C T rs619607 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:75830983C>T ENST00000322507.8 - 44 7396 COL12A1_ENST00000416123.2_Intron|COL12A1_ENST00000483888.2_Intron|COL12A1_ENST00000345356.6_Intron NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 NA NA cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501) collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982) extracellular matrix structural constituent conferring tensile strength (GO:0030020) breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 GGCAAGACATCACAAATGAGT 0.358 NA C||| 616 0.123003 0.2239 0.0634 5008 , , NA 16523 0.2024 NA 0.0179 False NA ,,, NA NA NA 2504 0.0552 NA NA NA NA 0 C , 676,3124 56,564,1280 60 58 59 , -1 0 6 dbSNP_83 59 171,8067 2,167,3950 no intron,intron COL12A1 NM_004370.5,NM_080645.2 , 58,731,5230 TT,TC,CC 2.0757,17.7895,7.0361 , , 75830983 847,11191 1900 4119 6019 SO:0001627 intron_variant U73779 CCDS43481.1, CCDS43482.1 6q12-q13 2013-02-11 2003-07-24 ENSG00000111799 ENSG00000111799 1303 Proteoglycans / Extracellular Matrix : Collagen proteoglycans, Collagens, Fibronectin type III domain containing 2188 protein-coding gene gene with protein product collagen type XII proteoglycan 120320 collagen, type XII, alpha 1-like COL12A1L NA 9143499 Standard NM_004370 XM_006715334 NA Approved uc003phs.3 Q99715 OTTHUMG00000015051 ENST00000322507.8:c.7086+34G>A chr6.hg19:g.75830983C>T NA O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716 hg19 CCDS43482.1 0.02 10.686545 CATxACA COVERED NOVEL COL12A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041249.3 1 24.67963 KEEP 0 0 0 82 2863 CC 1 1 0 - 11 60 398 0 0 24.727658 280 60 10645 473 ENST00000322507.8 0.037801 1 TMEM30A 55754 __UNKNOWN__ __UNKNOWN__ 6 75969022 75969022 __UNKNOWN__ Intron SNP C C A rs188944117 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:75969022C>A ENST00000230461.6 - 5 1015 TMEM30A_ENST00000475111.2_Intron|TMEM30A_ENST00000370050.5_Intron NM_018247.3 NP_060717.1 Q9NV96 CC50A_HUMAN transmembrane protein 30A NA NA drug transmembrane transport (GO:0006855)|phospholipid translocation (GO:0045332)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endosome (GO:0036010) cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) NS(1)|haematopoietic_and_lymphoid_tissue(8)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 TTCATTAAAACTCCTAGTTTA 0.289 NA C||| 14 0.00279553 0.0 0.0 5008 , , NA 15546 0.0139 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 34 38 36 NA NA 6 NA 75969022 2192 4269 6461 SO:0001627 intron_variant AK001718 CCDS4983.1, CCDS47453.1 6q14.1 2014-01-28 2004-06-17 2004-06-18 ENSG00000112697 ENSG00000112697 55754 16667 protein-coding gene gene with protein product 611028 chromosome 6 open reading frame 67 C6orf67 NA 15375526 Standard NM_018247 NM_001143958 NA Approved FLJ10856, CDC50A uc003phw.2 Q9NV96 OTTHUMG00000015050 ENST00000230461.6:c.685+40G>T chr6.hg19:g.75969022C>A NA A8K9V8|E1P539|Q658Z3|Q96H09|Q9NSL9 hg19 CCDS4983.1 0.02 -0.412347 AAAxTCC COVERED NOVEL TMEM30A-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041248.2 0 2.708861 KEEP 0 0 0 9 324 CC 0.99254 0.934716 0 - 3 60 102 0 0 6.788258 44 60 1666 62 ENST00000230461.6 0.06383 0.941741 MYO6 4646 __UNKNOWN__ __UNKNOWN__ 6 76625079 76625079 __UNKNOWN__ 3'UTR SNP T T C rs699186 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:76625079T>C ENST00000369977.3 + 0 4347 MYO6_ENST00000369985.4_3'UTR|MYO6_ENST00000369981.3_3'UTR|MYO6_ENST00000369975.1_3'UTR NM_004999.3 NP_004990.3 Q9UM54 MYO6_HUMAN myosin VI NA NA actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268) apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506) actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774) breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 all_hematologic(105;0.189) BRCA - Breast invasive adenocarcinoma(397;0.223) CAAAATACTTTTTAAGGATGG 0.323 NA T||| 1746 0.348642 0.1551 0.5418 5008 , , NA 18060 0.3919 NA 0.3847 False NA ,,, NA NA NA 2504 0.3916 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U90236, AB002387 CCDS34487.1, CCDS75481.1 6q14.1 2014-09-17 2004-05-19 ENSG00000196586 ENSG00000196586 4646 Myosins / Myosin superfamily : Class VI 7605 protein-coding gene gene with protein product 600970 deafness, autosomal recessive 37 DFNA22, DFNB37 NA 9259267, 11468689 Standard NM_004999 XM_005248719 NA Approved KIAA0389 uc003pih.1 Q9UM54 OTTHUMG00000015061 ENST00000369977.3:c.*350T>C chr6.hg19:g.76625079T>C NA A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2 hg19 CCDS34487.1 0.02 4.402942 CTTxTTA COVERED NOVEL MYO6-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041279.2 1 2.407162 KEEP 0 0 0 8 254 TT 0.99257 0.99257 0 + 9 60 341 0 0 23.748388 136 60 4918 174 ENST00000369977.3 0.062069 1 IMPG1 3617 __UNKNOWN__ __UNKNOWN__ 6 76631823 76631823 __UNKNOWN__ Missense_Mutation SNP C C T rs76604824 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:76631823C>T ENST00000369950.3 - 17 2566 c.2377G>A c.(2377-2379)Gat>Aat p.D793N IMPG1_ENST00000369963.3_3'UTR NM_001282368.1|NM_001563.2 NP_001269297.1|NP_001554.2 interphotoreceptor matrix proteoglycan 1 NA NA breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) CCTTCCCAATCTTGATGGTTA 0.323 NA C||| 232 0.0463259 0.0 0.0706 5008 , , NA 21199 0.1478 NA 0.0149 False NA ,,, NA NA NA 2504 0.0194 NA NA NA Pancreas(37;839 1141 2599 26037) NA 0 C ASN/ASP 12,4370 0,12,2179 95 86 89 2377 3.7 0.1 6 dbSNP_131 89 66,8524 0,66,4229 yes missense IMPG1 NM_001563.2 23 0,78,6408 TT,TC,CC 0.7683,0.2738,0.6013 possibly-damaging 793/798 76631823 78,12894 2191 4295 6486 SO:0001583 missense AF017776 CCDS4985.1, CCDS75483.1 6q14.2-q15 2008-02-05 2004-05-25 ENSG00000112706 ENSG00000112706 3617 6055 protein-coding gene gene with protein product 602870 sialoprotein associated with cones and rods SPACR NA Standard NM_001563 NM_001282368 NA Approved IPM150, GP147 uc003pik.1 Q17R60 OTTHUMG00000015063 ENST00000369950.3:c.2377G>A chr6.hg19:g.76631823C>T ENSP00000358966:p.Asp793Asn NA hg19 CCDS4985.1 0.02 8.187389 AATxTTG COVERED 100 0.045787545787545784 0 0.0 16 0.04419889502762431 72 0.1258741258741259 12 0.0158311345646438 C 13.16 2.154571 0.38021 0.002738 0.007683 ENSG00000112706 ENST00000369950;ENST00000369952 T;T 0.28069 1.63;1.69 4.58 3.7 0.42460 . 0.258136 0.27961 N 0.017146 T 0.14485 0.0350 L 0.39898 1.24 0.22412 N 0.999121 P 0.44877 0.845 B 0.43478 0.421 T 0.02676 -1.1125 10 0.72032 D 0.01 . 10.1701 0.42904 0.1986:0.8014:0.0:0.0 . 793 Q17R60 IMPG1_HUMAN N 793;154 ENSP00000358966:D793N;ENSP00000358968:D154N ENSP00000358966:D793N D - 1 0 IMPG1 76688543 0.997000 0.39634 0.050000 0.19076 0.185000 0.23345 1.948000 0.40303 1.514000 0.48869 -0.181000 0.13052 GAT NOVEL IMPG1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041288.1 1 5.417188 KEEP 0 0 0 18 619 CC 0.999859 0.999859 0 - 14 60 490 0 0 32.945182 210 60 7946 265 ENST00000369950.3 0.0625 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 79424433 79424433 __UNKNOWN__ IGR SNP A A G rs9352613 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:79424433A>G NA NA RP3-390M24.1 (108680 upstream) : RP11-173D14.3 (94998 downstream) NA NA NA CAGGAGATTCATGAAAACTTA 0.358 NA A||| 1489 0.297324 0.1165 0.3415 5008 , , NA 10227 0.3006 NA 0.3598 False NA ,,, NA NA NA 2504 0.4427 NA NA NA NA 0 A 238,1510 14,210,650 1035 892 936 3.3 0.7 6 dbSNP_119 936 1382,2554 260,862,846 yes intergenic 274,1072,1496 GG,GA,AA 35.1118,13.6156,28.5011 79424433 1620,4064 874 1968 2842 SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.79424433A>G NA hg19 0.02 1.710647 TTCxTGA COVERED NOVEL 0 1 4.514131 KEEP 0 0 0 15 485 AA 0.99649 0.996453 0 4 60 142 0 0 8.836734 95 60 3580 160 0.040404 0.999962 IRAK1BP1 134728 __UNKNOWN__ __UNKNOWN__ 6 79612800 79612800 __UNKNOWN__ 3'UTR SNP G G A rs9352675 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:79612800G>A ENST00000369940.2 + 0 5637 IRAK1BP1_ENST00000607739.1_Silent_p.*193* NM_001010844.2 NP_001010844.1 Q5VVH5 IKBP1_HUMAN interleukin-1 receptor-associated kinase 1 binding protein 1 NA NA I-kappaB kinase/NF-kappaB signaling (GO:0007249)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(3) 12 all_cancers(76;0.0398)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223) BRCA - Breast invasive adenocarcinoma(397;0.21) CACATCAAATGAACAAATACT 0.388 NA G||| 2541 0.507388 0.2995 0.4611 5008 , , NA 18021 0.6835 NA 0.4791 False NA ,,, NA NA NA 2504 0.6687 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AI478629 CCDS34488.1 6q14-q15 2006-04-12 ENSG00000146243 134728 17368 protein-coding gene gene with protein product 615375 NA 11096118 Standard XM_059729 XM_005248654 NA Approved AIP70, SIMPL uc003pim.4 Q5VVH5 ENST00000369940.2:c.*4749G>A chr6.hg19:g.79612800G>A NA hg19 CCDS34488.1 0.02 21.949811 AATxAAC COVERED NOVEL IRAK1BP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041296.2 3 12.676382 KEEP 0 1 34 54 1887 GG 1 1 0 + 30 60 1088 0 0 72.839509 509 70 19433 723 ENST00000369940.2 0.055659 1 PHIP 55023 __UNKNOWN__ __UNKNOWN__ 6 79657391 79657391 __UNKNOWN__ Silent SNP G G A rs1984195 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:79657391G>A ENST00000275034.4 - 36 4322 c.4155C>T c.(4153-4155)gtC>gtT p.V1385V PHIP_ENST00000479165.1_5'UTR NM_017934.5 NP_060404 Q8WWQ0 PHIP_HUMAN pleckstrin homology domain interacting protein 1385 Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}. NA cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932) extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577) NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 68 all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219) BRCA - Breast invasive adenocarcinoma(397;0.231) AAATAAGTCTGACATCTTTAC 0.338 NA G||| 2545 0.508187 0.3018 0.4611 5008 , , NA 17684 0.6835 NA 0.4791 False NA ,,, NA NA NA 2504 0.6697 NA NA NA NA 0 G 1368,3038 454.0+/-350.5 210,948,1045 145 137 140 4155 4.4 1 6 dbSNP_92 140 4234,4366 571.4+/-389.5 1037,2160,1103 no coding-synonymous PHIP NM_017934.5 1247,3108,2148 AA,AG,GG 49.2326,31.0486,43.0724 1385/1822 79657391 5602,7404 2203 4300 6503 SO:0001819 synonymous_variant AF310250 CCDS4987.1 6q14 2013-01-09 ENSG00000146247 ENSG00000146247 55023 WD repeat domain containing, DDB1 and CUL4 associated factors 15673 protein-coding gene gene with protein product DDB1 and CUL4 associated factor 14 612870 WDR11 NA 11018022 Standard NM_017934 NA Approved ndrp, FLJ20705, DCAF14, BRWD2 uc003pir.3 Q8WWQ0 OTTHUMG00000015071 ENST00000275034.4:c.4155C>T chr6.hg19:g.79657391G>A NA A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261 hg19 CCDS4987.1 0.02 6.733214 TCTxACA COVERED NOVEL PHIP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041297.2 0 7.825826 KEEP 0 0 0 26 942 GG 0.999957 0.999957 0 - 8 60 298 0 0 19.761014 155 60 5944 232 ENST00000275034.4 0.04908 1 PHIP 55023 __UNKNOWN__ __UNKNOWN__ 6 79664440 79664440 __UNKNOWN__ Intron SNP T T C rs9443632 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:79664440T>C ENST00000275034.4 - 35 4221 PHIP_ENST00000479165.1_Intron NM_017934.5 NP_060404 Q8WWQ0 PHIP_HUMAN pleckstrin homology domain interacting protein NA NA cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932) extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577) NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 68 all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219) BRCA - Breast invasive adenocarcinoma(397;0.231) AAATAAACTATAATCATAAAA 0.284 NA T||| 2584 0.515974 0.3313 0.4611 5008 , , NA 15607 0.6835 NA 0.4791 False NA ,,, NA NA NA 2504 0.6697 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF310250 CCDS4987.1 6q14 2013-01-09 ENSG00000146247 ENSG00000146247 55023 WD repeat domain containing, DDB1 and CUL4 associated factors 15673 protein-coding gene gene with protein product DDB1 and CUL4 associated factor 14 612870 WDR11 NA 11018022 Standard NM_017934 NA Approved ndrp, FLJ20705, DCAF14, BRWD2 uc003pir.3 Q8WWQ0 OTTHUMG00000015071 ENST00000275034.4:c.4053+90A>G chr6.hg19:g.79664440T>C NA A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261 hg19 CCDS4987.1 0.02 2.032047 CTAxAAT COVERED NOVEL PHIP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041297.2 0 2.705679 KEEP 0 0 0 9 246 TT 0.99254 0.960208 0 - 4 60 133 0 0 9.08752 48 60 1769 65 ENST00000275034.4 0.076923 0.967425 PHIP 55023 __UNKNOWN__ __UNKNOWN__ 6 79679577 79679577 __UNKNOWN__ Silent SNP A A G rs7742431 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:79679577A>G ENST00000275034.4 - 27 3347 c.3180T>C c.(3178-3180)gaT>gaC p.D1060D PHIP_ENST00000479165.1_5'UTR NM_017934.5 NP_060404 Q8WWQ0 PHIP_HUMAN pleckstrin homology domain interacting protein 1060 Mediates interaction with IRS1. {ECO:0000250}. NA cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932) extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577) NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 68 all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219) BRCA - Breast invasive adenocarcinoma(397;0.231) TGTATTTTGCATCATCAAATT 0.308 NA G||| 2763 0.551717 0.4395 0.4813 5008 , , NA 17734 0.6855 NA 0.4901 False NA ,,, NA NA NA 2504 0.6789 NA NA NA NA 0 G 1835,2571 631.0+/-395.6 398,1039,766 122 110 114 3180 -7.2 0.3 6 dbSNP_116 114 4327,4273 572.9+/-389.8 1086,2155,1059 no coding-synonymous PHIP NM_017934.5 1484,3194,1825 GG,GA,AA 49.686,41.6478,47.3781 1060/1822 79679577 6162,6844 2203 4300 6503 SO:0001819 synonymous_variant AF310250 CCDS4987.1 6q14 2013-01-09 ENSG00000146247 ENSG00000146247 55023 WD repeat domain containing, DDB1 and CUL4 associated factors 15673 protein-coding gene gene with protein product DDB1 and CUL4 associated factor 14 612870 WDR11 NA 11018022 Standard NM_017934 NA Approved ndrp, FLJ20705, DCAF14, BRWD2 uc003pir.3 Q8WWQ0 OTTHUMG00000015071 ENST00000275034.4:c.3180T>C chr6.hg19:g.79679577A>G NA A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261 hg19 CCDS4987.1 0.02 7.828268 TGCxTCA COVERED NOVEL PHIP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041297.2 4 5.285797 KEEP 0 2 67 41 1292 AA 1 1 0 - 11 60 371 0 0 23.179577 219 60 8097 344 ENST00000275034.4 0.047826 1 PHIP 55023 __UNKNOWN__ __UNKNOWN__ 6 79695029 79695029 __UNKNOWN__ Intron SNP C C T rs1890229 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:79695029C>T ENST00000275034.4 - 22 2705 NM_017934.5 NP_060404 Q8WWQ0 PHIP_HUMAN pleckstrin homology domain interacting protein NA NA cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932) extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577) NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 68 all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219) BRCA - Breast invasive adenocarcinoma(397;0.231) TTTCTAAAGACTTTATATAAC 0.348 NA T||| 2607 0.520567 0.3404 0.4669 5008 , , NA 14346 0.6845 NA 0.4791 False NA ,,, NA NA NA 2504 0.6759 NA NA NA NA 0 T 1446,2960 674.2+/-402.9 236,974,993 76 74 75 0.1 0 6 dbSNP_92 75 4218,4382 573.5+/-389.9 1033,2152,1115 no intron PHIP NM_017934.5 1269,3126,2108 TT,TC,CC 49.0465,32.8189,43.5491 79695029 5664,7342 2203 4300 6503 SO:0001627 intron_variant AF310250 CCDS4987.1 6q14 2013-01-09 ENSG00000146247 ENSG00000146247 55023 WD repeat domain containing, DDB1 and CUL4 associated factors 15673 protein-coding gene gene with protein product DDB1 and CUL4 associated factor 14 612870 WDR11 NA 11018022 Standard NM_017934 NA Approved ndrp, FLJ20705, DCAF14, BRWD2 uc003pir.3 Q8WWQ0 OTTHUMG00000015071 ENST00000275034.4:c.2537+39G>A chr6.hg19:g.79695029C>T NA A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261 hg19 CCDS4987.1 0.02 4.007487 AGAxTTT COVERED NOVEL PHIP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041297.2 1 5.825474 KEEP 0 1 30 30 967 CC 0.999997 0.999997 0 - 12 60 420 0 0 29.772721 133 70 4396 195 ENST00000275034.4 0.082759 1 PHIP 55023 __UNKNOWN__ __UNKNOWN__ 6 79707923 79707923 __UNKNOWN__ Intron SNP C C T rs11752126 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:79707923C>T ENST00000275034.4 - 18 2185 NM_017934.5 NP_060404 Q8WWQ0 PHIP_HUMAN pleckstrin homology domain interacting protein NA NA cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932) extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577) NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 68 all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219) BRCA - Breast invasive adenocarcinoma(397;0.231) gagatttaggctgtttcaaat 0.323 NA C||| 1939 0.387181 0.084 0.3833 5008 , , NA 17344 0.6756 NA 0.3648 False NA ,,, NA NA NA 2504 0.5256 NA NA NA NA 0 C 535,3871 231.4+/-245.2 41,453,1709 36 35 35 -1.7 0 6 dbSNP_120 35 3307,5293 476.9+/-369.5 643,2021,1636 no intron PHIP NM_017934.5 684,2474,3345 TT,TC,CC 38.4535,12.1425,29.5402 79707923 3842,9164 2203 4300 6503 SO:0001627 intron_variant AF310250 CCDS4987.1 6q14 2013-01-09 ENSG00000146247 ENSG00000146247 55023 WD repeat domain containing, DDB1 and CUL4 associated factors 15673 protein-coding gene gene with protein product DDB1 and CUL4 associated factor 14 612870 WDR11 NA 11018022 Standard NM_017934 NA Approved ndrp, FLJ20705, DCAF14, BRWD2 uc003pir.3 Q8WWQ0 OTTHUMG00000015071 ENST00000275034.4:c.2017+47G>A chr6.hg19:g.79707923C>T NA A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261 hg19 CCDS4987.1 0.02 4.093628 AGGxTGT COVERED NOVEL PHIP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041297.2 1 6.3194 KEEP 0 0 0 21 719 CC 0.999869 0.999864 0 - 9 60 311 0 0 21.797047 103 60 3846 141 ENST00000275034.4 0.080357 0.999995 PHIP 55023 __UNKNOWN__ __UNKNOWN__ 6 79726439 79726439 __UNKNOWN__ Intron SNP T T C rs70937077 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:79726439T>C ENST00000275034.4 - 13 1304 NM_017934.5 NP_060404 Q8WWQ0 PHIP_HUMAN pleckstrin homology domain interacting protein NA NA cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932) extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577) NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 68 all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219) BRCA - Breast invasive adenocarcinoma(397;0.231) AGATCTTGTTTAAAAAGACAG 0.333 NA t||| 64 0.0127796 0.0 0.0014 5008 , , NA 16588 0.0615 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF310250 CCDS4987.1 6q14 2013-01-09 ENSG00000146247 ENSG00000146247 55023 WD repeat domain containing, DDB1 and CUL4 associated factors 15673 protein-coding gene gene with protein product DDB1 and CUL4 associated factor 14 612870 WDR11 NA 11018022 Standard NM_017934 NA Approved ndrp, FLJ20705, DCAF14, BRWD2 uc003pir.3 Q8WWQ0 OTTHUMG00000015071 ENST00000275034.4:c.1137-80A>G chr6.hg19:g.79726439T>C NA A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261 hg19 CCDS4987.1 0.02 17.506198 GTTxAAA COVERED NOVEL PHIP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041297.2 1 17.751358 KEEP 0 0 0 59 1835 TT 1 1 0 - 10 60 405 0 0 25.505081 344 60 12474 491 ENST00000275034.4 0.028249 1 PHIP 55023 __UNKNOWN__ __UNKNOWN__ 6 79752792 79752792 __UNKNOWN__ Intron SNP T T C rs9343863 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:79752792T>C ENST00000275034.4 - 7 607 NM_017934.5 NP_060404 Q8WWQ0 PHIP_HUMAN pleckstrin homology domain interacting protein NA NA cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932) extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577) NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 68 all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219) BRCA - Breast invasive adenocarcinoma(397;0.231) TTTTAAGAATTCACATACTCC 0.289 NA T||| 2574 0.513978 0.3253 0.4611 5008 , , NA 18538 0.6815 NA 0.4811 False NA ,,, NA NA NA 2504 0.6677 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF310250 CCDS4987.1 6q14 2013-01-09 ENSG00000146247 ENSG00000146247 55023 WD repeat domain containing, DDB1 and CUL4 associated factors 15673 protein-coding gene gene with protein product DDB1 and CUL4 associated factor 14 612870 WDR11 NA 11018022 Standard NM_017934 NA Approved ndrp, FLJ20705, DCAF14, BRWD2 uc003pir.3 Q8WWQ0 OTTHUMG00000015071 ENST00000275034.4:c.440-72A>G chr6.hg19:g.79752792T>C NA A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261 hg19 CCDS4987.1 0.02 3.87676 AATxCAC COVERED NOVEL PHIP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041297.2 0 3.611367 KEEP 0 0 0 12 394 TT 0.993634 0.99363 0 - 10 60 353 0 0 25.359423 104 60 3686 126 ENST00000275034.4 0.087719 0.999996 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 80780306 80780306 __UNKNOWN__ IGR SNP C C T rs113123867 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:80780306C>T NA NA TTK (28062 upstream) : BCKDHB (36057 downstream) NA NA NA GATCCCTTCCCGCCCGCTCGG 0.642 NA C||| 179 0.0357428 0.0015 0.1153 5008 , , NA 10903 0.0853 NA 0.003 False NA ,,, NA NA NA 2504 0.0082 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.80780306C>T NA hg19 0.02 4.569614 TCCxGCC COVERED NOVEL 0 2 10.232437 KEEP 0 0 0 34 1158 CC 0.999998 0.999995 0 9 60 282 0 0 18.886248 106 60 3484 186 0.078261 0.999997 IBTK 25998 __UNKNOWN__ __UNKNOWN__ 6 82948943 82948943 __UNKNOWN__ Intron SNP G G A rs7751098 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:82948943G>A ENST00000306270.7 - 2 871 IBTK_ENST00000510291.1_Intron|IBTK_ENST00000503631.1_Intron NM_015525.2 NP_056340.2 Q9P2D0 IBTK_HUMAN inhibitor of Bruton agammaglobulinemia tyrosine kinase NA NA negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein tyrosine kinase activity (GO:0061099)|release of sequestered calcium ion into cytosol (GO:0051209) cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634) protein kinase binding (GO:0019901)|protein tyrosine kinase inhibitor activity (GO:0030292) central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 54 all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037) BRCA - Breast invasive adenocarcinoma(397;0.0901) tggatcacgaggtcaggagat 0.498 NA G||| 1286 0.256789 0.2912 0.3055 5008 , , NA 13164 0.2014 NA 0.2266 False NA ,,, NA NA NA 2504 0.2638 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF235049 CCDS34490.1, CCDS75486.1 6q14.3 2013-01-10 2003-10-06 2003-10-08 ENSG00000005700 ENSG00000005700 25998 BTB/POZ domain containing, Ankyrin repeat domain containing 17853 protein-coding gene gene with protein product 606457 Bruton agammaglobulinemia tyrosine kinase inhibitor BTKI NA 11577348 Standard NM_015525 XM_006715453 NA Approved DKFZP564B116, BTBD26 uc003pjl.1 Q9P2D0 OTTHUMG00000015102 ENST00000306270.7:c.321+939C>T chr6.hg19:g.82948943G>A NA Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8 hg19 CCDS34490.1 0.02 -0.069451 CGAxGTC UNCOVERED NOVEL IBTK-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041337.2 1 2.40777 KEEP 2 0 0 8 277 GG 0 0 0 - 4 59 119 0 0 11.338228 4 60 146 23 ENST00000306270.7 0.5 0.054137 TPBG 7162 __UNKNOWN__ __UNKNOWN__ 6 83078381 83078381 __UNKNOWN__ 3'UTR SNP C C T rs78795848 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:83078381C>T ENST00000369750.3 + 0 4320 Q13641 TPBG_HUMAN trophoblast glycoprotein NA NA cell adhesion (GO:0007155) cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887) central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1) 15 all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897) BRCA - Breast invasive adenocarcinoma(397;0.107) TCTTTTTCATCCCCCTACTTA 0.353 NA C||| 300 0.0599042 0.0008 0.0447 5008 , , NA 16691 0.2331 NA 0.0189 False NA ,,, NA NA NA 2504 0.0143 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ012159 CCDS4995.1 6q14-q15 2008-07-29 ENSG00000146242 ENSG00000146242 7162 12004 protein-coding gene gene with protein product 190920 NA 8132670 Standard NM_006670 NA Approved 5T4-AG, 5T4 uc003pjo.3 Q13641 OTTHUMG00000015103 ENST00000369750.3:c.*2440C>T chr6.hg19:g.83078381C>T NA A8K555 hg19 CCDS4995.1 0.02 11.767645 CATxCCC COVERED NOVEL TPBG-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041340.1 2 14.145872 KEEP 0 0 0 47 1643 CC 1 1 0 + 9 60 323 1 0 18.856413 306 60 11469 450 ENST00000369750.3 0.028571 1 ME1 4199 __UNKNOWN__ __UNKNOWN__ 6 84140728 84140728 __UNKNOWN__ 5'UTR SNP G G A rs28372717 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:84140728G>A ENST00000369705.3 - 0 62 ME1_ENST00000543031.1_5'UTR|ME1_ENST00000541327.1_5'UTR NM_002395.4 NP_002386.1 P48163 MAOX_HUMAN malic enzyme 1, NADP(+)-dependent, cytosolic NA NA carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|malate metabolic process (GO:0006108)|NADP biosynthetic process (GO:0006741)|protein tetramerization (GO:0051262)|response to carbohydrate (GO:0009743)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|mitochondrion (GO:0005739) ADP binding (GO:0043531)|electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|manganese ion binding (GO:0030145)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|oxaloacetate decarboxylase activity (GO:0008948) NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218) BRCA - Breast invasive adenocarcinoma(397;0.0641) cacgcgcggtgcaggcggcgg 0.791 NA G||| 305 0.0609026 0.0121 0.098 5008 , , NA 8863 0.1498 NA 0.006 False NA ,,, NA NA NA 2504 0.0654 NA NA NA NA 0 9 9 9 NA NA 6 NA 84140728 670 1489 2159 SO:0001623 5_prime_UTR_variant X77244 CCDS34492.1 6q12 2012-10-02 ENSG00000065833 ENSG00000065833 4199 1.1.1.40 6983 protein-coding gene gene with protein product 154250 NA 8187880 Standard NM_002395 NA Approved uc003pjy.3 P48163 OTTHUMG00000015111 ENST00000369705.3:c.-55C>T chr6.hg19:g.84140728G>A NA B4DZ70|Q16797|Q16855|Q53F72|Q5VWA2|Q9BWX8|Q9H1W3|Q9UIY4 hg19 CCDS34492.1 0.02 1.546424 GGTxCAG COVERED NOVEL ME1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041350.1 0 13.215656 KEEP 0 0 0 44 1482 GG 1 0.99993 0 - 5 60 173 0 0 11.15975 91 70 3309 144 ENST00000369705.3 0.052083 0.99993 SNAP91 9892 __UNKNOWN__ __UNKNOWN__ 6 84302561 84302561 __UNKNOWN__ Intron SNP T T G rs3818169 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:84302561T>G ENST00000439399.2 - 20 2163 SNAP91_ENST00000195649.6_Intron|SNAP91_ENST00000520213.1_Intron|SNAP91_ENST00000437520.1_Intron|SNAP91_ENST00000428679.2_Intron|SNAP91_ENST00000521743.1_Intron|SNAP91_ENST00000520302.1_Intron|SNAP91_ENST00000369694.2_Intron|SNAP91_ENST00000521485.1_Intron NM_014841.2 NP_055656.1 O60641 AP180_HUMAN synaptosomal-associated protein, 91kDa NA NA clathrin coat assembly (GO:0048268)|protein transport (GO:0015031) clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886) 1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901) breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0967) GAAGTACATTTTAAATTTAAA 0.343 NA T||| 382 0.076278 0.0477 0.1614 5008 , , NA 18421 0.1806 NA 0.008 False NA ,,, NA NA NA 2504 0.0174 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB014556 CCDS47455.1, CCDS56437.1, CCDS56438.1 6q15 2012-12-07 2012-12-07 ENSG00000065609 ENSG00000065609 9892 14986 protein-coding gene gene with protein product 607923 synaptosomal-associated protein, 91 kDa (mouse) homolog, synaptosomal-associated protein, 91kDa homolog (mouse) NA 9734811, 12493563, 10436022 Standard NM_014841 NA Approved KIAA0656, AP180, CALM uc003pka.3 O60641 OTTHUMG00000015114 ENST00000439399.2:c.1846+103A>C chr6.hg19:g.84302561T>G NA A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7 hg19 CCDS47455.1 0.02 1.954169 ATTxTAA COVERED NOVEL SNAP91-007 KNOWN alternative_5_UTR|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000375296.1 0 6.314875 KEEP 0 0 0 21 586 TT 0.999869 0.999788 0 - 6 60 221 0 0 15.247342 89 60 3165 125 ENST00000439399.2 0.063158 0.999919 NT5E 4907 __UNKNOWN__ __UNKNOWN__ 6 86205077 86205077 __UNKNOWN__ 3'UTR SNP G G T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:86205077G>T ENST00000257770.3 + 0 3129 NT5E_ENST00000369651.3_3'UTR NM_002526.3 NP_002517.1 P21589 5NTD_HUMAN 5'-nucleotidase, ecto (CD73) NA NA adenosine biosynthetic process (GO:0046086)|AMP catabolic process (GO:0006196)|dephosphorylation (GO:0016311)|DNA metabolic process (GO:0006259)|negative regulation of inflammatory response (GO:0050728)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281) anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886) 5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427) BRCA - Breast invasive adenocarcinoma(108;0.0417) Cytarabine(DB00987)|Pentoxifylline(DB00806) CTCTGCATAAGTAATTCAAGA 0.403 NA NA NA NA NA NA NA NA NA NA Melanoma(140;797 1765 2035 2752 18208) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X55740 CCDS5002.1, CCDS56439.1 6q14-q21 2013-08-28 2002-04-18 2002-04-19 ENSG00000135318 ENSG00000135318 4907 3.1.3.5 CD molecules 8021 protein-coding gene gene with protein product 129190 5' nucleotidase (CD73) NT5 NA Standard NM_002526 NA Approved CD73, eN, eNT, CALJA uc003pko.4 P21589 OTTHUMG00000015139 ENST00000257770.3:c.*1355G>T chr6.hg19:g.86205077G>T NA B3KQI8|O75520|Q5W116 hg19 CCDS5002.1 0.02 3.994884 TAAxTAA COVERED NOVEL NT5E-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041388.1 1 8.728248 KEEP 0 0 0 29 1024 GG 0.999997 0.999997 0 + 5 60 183 0 0 11.230293 141 60 5368 206 ENST00000257770.3 0.034247 1 NT5E 4907 __UNKNOWN__ __UNKNOWN__ 6 86205079 86205079 __UNKNOWN__ 3'UTR SNP A A C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:86205079A>C ENST00000257770.3 + 0 3131 NT5E_ENST00000369651.3_3'UTR NM_002526.3 NP_002517.1 P21589 5NTD_HUMAN 5'-nucleotidase, ecto (CD73) NA NA adenosine biosynthetic process (GO:0046086)|AMP catabolic process (GO:0006196)|dephosphorylation (GO:0016311)|DNA metabolic process (GO:0006259)|negative regulation of inflammatory response (GO:0050728)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281) anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886) 5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427) BRCA - Breast invasive adenocarcinoma(108;0.0417) Cytarabine(DB00987)|Pentoxifylline(DB00806) CTGCATAAGTAATTCAAGAAA 0.393 NA NA NA NA NA NA NA NA NA NA Melanoma(140;797 1765 2035 2752 18208) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X55740 CCDS5002.1, CCDS56439.1 6q14-q21 2013-08-28 2002-04-18 2002-04-19 ENSG00000135318 ENSG00000135318 4907 3.1.3.5 CD molecules 8021 protein-coding gene gene with protein product 129190 5' nucleotidase (CD73) NT5 NA Standard NM_002526 NA Approved CD73, eN, eNT, CALJA uc003pko.4 P21589 OTTHUMG00000015139 ENST00000257770.3:c.*1357A>C chr6.hg19:g.86205079A>C NA B3KQI8|O75520|Q5W116 hg19 CCDS5002.1 0.02 4.538024 AGTxATT COVERED NOVEL NT5E-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041388.1 1 9.022942 KEEP 0 0 0 30 868 AA 0.999997 0.999997 0 + 5 60 192 0 0 12.205162 136 60 4886 201 ENST00000257770.3 0.035461 1 SNX14 57231 __UNKNOWN__ __UNKNOWN__ 6 86299191 86299191 __UNKNOWN__ Intron SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:86299191C>T ENST00000314673.3 - 1 317 SNX14_ENST00000513865.1_Intron|SNX14_ENST00000346348.3_Intron|SNX14_ENST00000369627.2_Intron|RP11-321N4.5_ENST00000503906.1_Intron|SNX14_ENST00000505648.1_Intron NM_153816.3 NP_722523.1 Q9Y5W7 SNX14_HUMAN sorting nexin 14 NA NA protein transport (GO:0015031)|termination of G-protein coupled receptor signaling pathway (GO:0038032) integral component of membrane (GO:0016021) phosphatidylinositol binding (GO:0035091) NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1) 22 all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24) BRCA - Breast invasive adenocarcinoma(108;0.0423) ccaccttggcctcccaaaatg 0.488 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF121863 CCDS5003.1, CCDS5004.1, CCDS75490.1 6q15 2008-10-22 ENSG00000135317 ENSG00000135317 57231 Sorting nexins 14977 protein-coding gene gene with protein product NA 11485546, 11736640 Standard NM_153816 XM_005248738 NA Approved RGS-PX2 uc003pkr.3 Q9Y5W7 OTTHUMG00000015140 ENST00000314673.3:c.140+4105G>A chr6.hg19:g.86299191C>T NA B4DI55|Q4VBR3|Q5TCF9|Q5TCG0|Q6NUI7|Q6PI37|Q9BSD1 hg19 CCDS5004.1 0.02 6.570619 GGCxTCC COVERED NOVEL SNX14-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041393.2 3 13.843614 KEEP 0 0 0 46 1572 CC 1 1 0 - 8 60 300 0 0 19.362232 185 60 6777 257 ENST00000314673.3 0.041451 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 86445651 86445651 __UNKNOWN__ IGR SNP A A G rs16876414 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:86445651A>G NA NA SNHG5 (58275 upstream) : RNU4-72P (15647 downstream) NA NA NA TAGACCAACTATGAATTCACT 0.502 NA A||| 540 0.107827 0.1876 0.0865 5008 , , NA 18149 0.2192 NA 0.003 False NA ,,, NA NA NA 2504 0.0082 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.86445651A>G NA hg19 0.02 16.547366 ACTxTGA COVERED NOVEL 0 1 13.239023 KEEP 0 0 0 44 1368 AA 1 1 0 16 60 604 0 0 38.961607 379 60 13713 541 0.040506 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 86445706 86445706 __UNKNOWN__ IGR SNP C C T rs16876418 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:86445706C>T NA NA SNHG5 (58330 upstream) : RNU4-72P (15592 downstream) NA NA NA TGAGAGGCGGCGGGAAGGTCA 0.522 NA c||| 540 0.107827 0.1876 0.0865 5008 , , NA 16601 0.2192 NA 0.003 False NA ,,, NA NA NA 2504 0.0082 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.86445706C>T NA hg19 0.02 14.817312 CGGxGGG COVERED NOVEL 0 0 13.779764 KEEP 0 0 0 46 1539 CC 1 1 0 16 60 546 0 0 33.751289 349 60 12246 511 0.043836 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 87830279 87830279 __UNKNOWN__ IGR SNP T T C rs4361588 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:87830279T>C NA NA CGA (25455 upstream) : RP11-393I2.4 (30597 downstream) NA NA NA AAACGCATTGTATTCCTATTC 0.388 NA T||| 648 0.129393 0.205 0.0605 5008 , , NA 19551 0.13 NA 0.0944 False NA ,,, NA NA NA 2504 0.1115 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.87830279T>C NA hg19 0.02 10.943652 TTGxATT COVERED NOVEL 0 2 6.0174 KEEP 0 0 0 20 623 TT 0.999863 0.999863 0 8 60 304 0 0 18.253303 288 60 10123 365 0.027027 1 ZNF292 23036 __UNKNOWN__ __UNKNOWN__ 6 87967636 87967636 __UNKNOWN__ Missense_Mutation SNP A A G rs6941356 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:87967636A>G ENST00000369577.3 + 8 4332 c.4289A>G c.(4288-4290)aAt>aGt p.N1430S ZNF292_ENST00000339907.4_Missense_Mutation_p.N1425S NM_015021.1 NP_055836.1 O60281 ZN292_HUMAN zinc finger protein 292 1430 NA nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077) NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 89 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) CTCTCCACAAATGCAGTAAAT 0.428 NA A||| 423 0.0844649 0.0303 0.0548 5008 , , NA 19450 0.1359 NA 0.0954 False NA ,,, NA NA NA 2504 0.1145 NA NA NA NA 0 A SER/ASN 149,3693 2,145,1774 135 139 138 4289 2.6 1 6 dbSNP_116 138 769,7513 34,701,3406 yes missense ZNF292 NM_015021.1 46 36,846,5180 GG,GA,AA 9.2852,3.8782,7.5718 benign 1430/2724 87967636 918,11206 1921 4141 6062 SO:0001583 missense AB011102 CCDS47457.1 6q15 2008-10-23 ENSG00000188994 ENSG00000188994 23036 Zinc fingers, C2H2-type 18410 protein-coding gene gene with protein product NA 9628581 Standard NM_015021 NM_015021 NA Approved KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16 uc003plm.4 O60281 OTTHUMG00000015164 ENST00000369577.3:c.4289A>G chr6.hg19:g.87967636A>G ENSP00000358590:p.Asn1430Ser NA Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4 hg19 CCDS47457.1 0.02 27.898239 CAAxTGC COVERED 179 0.08195970695970696 13 0.026422764227642278 24 0.06629834254143646 69 0.12062937062937062 73 0.09630606860158311 A 4.306 0.056132 0.08291 0.038782 0.092852 ENSG00000188994 ENST00000369577;ENST00000339907 T;T 0.06528 3.29;3.3 5.03 2.64 0.31445 . 0.264982 0.31392 N 0.007738 T 0.00998 0.0033 N 0.12182 0.205 0.27326 N 0.956919 B 0.15141 0.012 B 0.12156 0.007 T 0.49000 -0.8984 10 0.20046 T 0.44 . 7.5399 0.27731 0.7564:0.0:0.2436:0.0 rs6941356;rs60552547;rs6941356 1430 O60281 ZN292_HUMAN S 1430;1425 ENSP00000358590:N1430S;ENSP00000342847:N1425S ENSP00000342847:N1425S N + 2 0 ZNF292 88024355 1.000000 0.71417 1.000000 0.80357 0.930000 0.56654 1.955000 0.40372 0.360000 0.24265 -0.256000 0.11100 AAT NOVEL ZNF292-005 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000376192.2 1 24.040103 KEEP 0 2 72 105 3315 AA 1 1 0 + 28 60 1056 0 0 69.885975 570 60 20448 861 ENST00000369577.3 0.046823 1 C6orf163 206412 __UNKNOWN__ __UNKNOWN__ 6 88066110 88066110 __UNKNOWN__ Missense_Mutation SNP A A G rs571760546 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:88066110A>G ENST00000388923.4 + 4 694 c.443A>G c.(442-444)cAc>cGc p.H148R C6orf163_ENST00000608326.1_Missense_Mutation_p.H18R|RP1-102H19.8_ENST00000448282.2_Intron NM_001010868.2 NP_001010868.2 Q5TEZ5 CF163_HUMAN chromosome 6 open reading frame 163 148 NA central_nervous_system(1)|kidney(1) 2 CGCATGGTCCACAGAATCCAA 0.473 NA A||| 2 0.000399361 0.0 0.0 5008 , , NA 19312 0.002 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 89 89 89 NA NA 6 NA 88066110 692 1591 2283 SO:0001583 missense AK092941 CCDS55042.1 6q15 2012-02-07 ENSG00000203872 ENSG00000203872 206412 21403 protein-coding gene gene with protein product NA Standard NM_001010868 NM_001010868 NA Approved uc021zcl.1 Q5TEZ5 OTTHUMG00000015169 ENST00000388923.4:c.443A>G chr6.hg19:g.88066110A>G ENSP00000373575:p.His148Arg NA hg19 CCDS55042.1 0.02 20.659551 TCCxCAG COVERED . . . . . . . . . . A 18.68 3.675213 0.67928 . . ENSG00000203872 ENST00000388923;ENST00000369574 T 0.75821 -0.97 5.61 4.43 0.53597 . 0.000000 0.64402 D 0.000001 T 0.70570 0.3239 M 0.69823 2.125 0.33255 D 0.559036 . . . . . . T 0.74051 -0.3789 8 0.72032 D 0.01 -12.7552 9.605 0.39628 0.9188:0.0:0.0812:0.0 . . . . R 148;22 ENSP00000373575:H148R ENSP00000358587:H22R H + 2 0 C6orf163 88122829 0.996000 0.38824 0.971000 0.41717 0.990000 0.78478 3.604000 0.54081 0.930000 0.37217 0.528000 0.53228 CAC NOVEL C6orf163-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041436.2 2 15.645758 KEEP 0 0 0 52 1595 AA 1 1 0 + 19 60 620 0 0 35.659023 531 60 19053 712 ENST00000388923.4 0.034545 1 C6orf163 206412 __UNKNOWN__ __UNKNOWN__ 6 88075122 88075122 __UNKNOWN__ 3'UTR SNP C C T rs9353482 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:88075122C>T ENST00000388923.4 + 0 1249 C6orf163_ENST00000608891.1_3'UTR|C6orf163_ENST00000608326.1_3'UTR|RP1-102H19.8_ENST00000448282.2_Intron NM_001010868.2 NP_001010868.2 Q5TEZ5 CF163_HUMAN chromosome 6 open reading frame 163 NA NA central_nervous_system(1)|kidney(1) 2 TAGAAGTCTTCAGTTGAAATT 0.358 NA C||| 565 0.112819 0.1051 0.0692 5008 , , NA 19200 0.1369 NA 0.1143 False NA ,,, NA NA NA 2504 0.1278 NA NA NA NA 0 7 6 6 NA NA 6 NA 88075122 684 1564 2248 SO:0001624 3_prime_UTR_variant AK092941 CCDS55042.1 6q15 2012-02-07 ENSG00000203872 ENSG00000203872 206412 21403 protein-coding gene gene with protein product NA Standard NM_001010868 NM_001010868 NA Approved uc021zcl.1 Q5TEZ5 OTTHUMG00000015169 ENST00000388923.4:c.*8C>T chr6.hg19:g.88075122C>T NA hg19 CCDS55042.1 0.02 22.936678 CTTxAGT COVERED NOVEL C6orf163-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041436.2 1 15.78677 KEEP 0 1 33 64 2290 CC 1 1 0 + 16 60 588 0 0 35.01122 535 60 20520 741 ENST00000388923.4 0.029038 1 C6orf165 154313 __UNKNOWN__ __UNKNOWN__ 6 88126380 88126380 __UNKNOWN__ Intron SNP A A T rs112853646 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:88126380A>T ENST00000507897.1 + 6 555 C6ORF165_ENST00000369562.4_Intron Q8IYR0 CF165_HUMAN chromosome 6 open reading frame 165 NA NA NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0419) TTTCTGGTTTATTTTAGCTGC 0.353 NA NA NA NA NA NA NA NA NA NA NA 0 37 39 38 NA NA 6 NA 88126380 2202 4300 6502 SO:0001627 intron_variant BC035083 CCDS34498.1 6q15 2012-02-07 ENSG00000213204 ENSG00000213204 154313 21405 protein-coding gene gene with protein product NA Standard NM_178823 NM_001031743 NA Approved FLJ25974, dJ382I10.1 uc003plv.3 Q8IYR0 OTTHUMG00000015173 ENST00000507897.1:c.473-7A>T chr6.hg19:g.88126380A>T NA A8K969|E1P507|Q8N9U4 hg19 CCDS34498.1 0.02 4.570454 TTTxTTT COVERED NOVEL C6orf165-001 KNOWN basic|appris_principal|readthrough_transcript|CCDS nonsense_mediated_decay NA protein_coding OTTHUMT00000470406.1 2 3.320237 KEEP 0 3 36 25 605 AA 0.999997 0.999997 0 + 24 60 315 1 0 11.56359 197 60 5146 297 ENST00000507897.1 0.108597 1 RARS2 57038 __UNKNOWN__ __UNKNOWN__ 6 88231226 88231226 __UNKNOWN__ Missense_Mutation SNP T T C rs3757370 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:88231226T>C ENST00000369536.5 - 12 1036 c.991A>G c.(991-993)Ata>Gta p.I331V NM_020320.3 NP_064716.2 Q5T160 SYRM_HUMAN arginyl-tRNA synthetase 2, mitochondrial 331 NA I -> V (in dbSNP:rs3757370). {ECO:0000269|PubMed:14702039}. arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418) mitochondrial matrix (GO:0005759) arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 22 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0456) ATTCGATCTATAGCAGCTGCA 0.338 NA T||| 234 0.0467252 0.0023 0.0144 5008 , , NA 14966 0.13 NA 0.0308 False NA ,,, NA NA NA 2504 0.0603 NA NA NA NA 0 T VAL/ILE 25,4381 31.7+/-61.6 0,25,2178 87 87 87 991 5.8 1 6 dbSNP_107 87 196,8404 85.6+/-148.0 5,186,4109 yes missense RARS2 NM_020320.3 29 5,211,6287 CC,CT,TT 2.2791,0.5674,1.6992 benign 331/579 88231226 221,12785 2203 4300 6503 SO:0001583 missense AK093934 CCDS5011.1 6q16.1 2011-07-01 2007-09-27 2007-02-23 ENSG00000146282 ENSG00000146282 57038 6.1.1.19 Aminoacyl tRNA synthetases / Class I 21406 protein-coding gene gene with protein product arginine tRNA ligase 2, mitochondrial (putative) 611524 arginyl-tRNA synthetase-like RARSL NA 17847012 Standard NM_020320 NM_020320 NA Approved MGC14993, MGC23778, PRO1992, dJ382I10.6, DALRD2 uc003pme.3 Q5T160 OTTHUMG00000015178 ENST00000369536.5:c.991A>G chr6.hg19:g.88231226T>C ENSP00000358549:p.Ile331Val NA B2RDT7|Q96FU5|Q9H8K8 hg19 CCDS5011.1 0.02 4.37356 CTAxAGC COVERED 93 0.042582417582417584 1 0.0020325203252032522 3 0.008287292817679558 67 0.11713286713286714 22 0.029023746701846966 T 13.68 2.308999 0.40895 0.005674 0.022791 ENSG00000146282 ENST00000369536 T 0.62788 -0.0 5.83 5.83 0.93111 Arginyl-tRNA synthetase, class Ia, core (2);Rossmann-like alpha/beta/alpha sandwich fold (1); 0.099876 0.64402 D 0.000002 T 0.39145 0.1067 N 0.26130 0.795 0.46356 D 0.999 B 0.28713 0.22 B 0.39119 0.291 T 0.38950 -0.9637 10 0.22706 T 0.39 . 12.1103 0.53836 0.0:0.0:0.1431:0.8569 rs3757370;rs52804813;rs3757370 331 Q5T160 SYRM_HUMAN V 331 ENSP00000358549:I331V ENSP00000358549:I331V I - 1 0 RARS2 88287945 1.000000 0.71417 1.000000 0.80357 0.995000 0.86356 2.440000 0.44855 2.236000 0.73375 0.533000 0.62120 ATA NOVEL RARS2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041448.1 1 10.530812 KEEP 0 0 0 35 1066 TT 0.999999 0.999998 0 - 5 60 187 0 0 11.769603 132 60 4835 210 ENST00000369536.5 0.036496 1 CNR1 1268 __UNKNOWN__ __UNKNOWN__ 6 88852916 88852916 __UNKNOWN__ 3'UTR SNP A A C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:88852916A>C ENST00000537554.1 - 0 5640 CNR1_ENST00000535130.1_3'UTR|CNR1_ENST00000369501.2_3'UTR|CNR1_ENST00000369499.2_3'UTR NM_001160226.1|NM_001160258.1 NP_001153698.1|NP_001153730.1 P21554 CNR1_HUMAN cannabinoid receptor 1 (brain) NA NA adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|positive regulation of acute inflammatory response to antigenic stimulus (GO:0002866)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood pressure (GO:0045777)|positive regulation of fever generation (GO:0031622)|positive regulation of neuron projection development (GO:0010976)|regulation of feeding behavior (GO:0060259)|regulation of insulin secretion (GO:0050796)|regulation of penile erection (GO:0060405)|regulation of synaptic transmission, GABAergic (GO:0032228)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) cannabinoid receptor activity (GO:0004949)|drug binding (GO:0008144) breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1) 37 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.15) Dronabinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155) TAACAGAAAAATAAACCTTTA 0.259 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF107262 CCDS5015.1, CCDS5016.1, CCDS5016.2 6q14-q15 2012-08-08 ENSG00000118432 ENSG00000118432 1268 GPCR / Class A : Cannabinoid receptors 2159 protein-coding gene gene with protein product 114610 CNR NA Standard NM_016083 NA Approved CB1K5, CB-R, CB1, CANN6, CB1A uc003pmq.4 P21554 OTTHUMG00000015184 ENST00000537554.1:c.*659T>G chr6.hg19:g.88852916A>C NA B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0 hg19 CCDS5015.1 0.02 6.704902 AAAxTAA COVERED NOVEL CNR1-202 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000354204.2 2 4.512908 KEEP 0 0 0 15 468 AA 0.99649 0.99649 0 - 6 60 222 0 0 13.51668 183 60 6663 232 ENST00000537554.1 0.031746 1 RNGTT 8732 __UNKNOWN__ __UNKNOWN__ 6 89323961 89323961 __UNKNOWN__ Intron SNP T T G rs2236287 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:89323961T>G ENST00000369485.4 - 15 1817 RNGTT_ENST00000538899.1_Intron|RNGTT_ENST00000265607.6_Intron NM_003800.3 NP_003791.3 O60942 MCE1_HUMAN RNA guanylyltransferase and 5'-phosphatase NA NA 7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA processing (GO:0006396)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032) nucleoplasm (GO:0005654)|nucleus (GO:0005634) GTP binding (GO:0005525)|mRNA guanylyltransferase activity (GO:0004484)|polynucleotide 5'-phosphatase activity (GO:0004651)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA guanylyltransferase activity (GO:0008192)|triphosphatase activity (GO:0050355) endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 21 all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05) BRCA - Breast invasive adenocarcinoma(108;0.151) GTTTTAAATATAATAAGCACT 0.398 NA T||| 1086 0.216853 0.3654 0.2032 5008 , , NA 18965 0.1696 NA 0.167 False NA ,,, NA NA NA 2504 0.1258 NA NA NA NA 0 T 1499,2907 478.3+/-358.2 263,973,967 76 70 72 -0.9 0 6 dbSNP_98 72 1457,7143 278.0+/-293.2 128,1201,2971 no intron RNGTT NM_003800.3 391,2174,3938 GG,GT,TT 16.9419,34.0218,22.728 89323961 2956,10050 2203 4300 6503 SO:0001627 intron_variant AF025654 CCDS5017.1 6q16 2011-06-09 ENSG00000111880 ENSG00000111880 8732 2.7.7.50 Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases 10073 protein-coding gene gene with protein product 603512 NA 9828141, 9512541 Standard NM_001286428 NA Approved HCE, HCE1, hCAP uc003pmr.2 O60942 OTTHUMG00000015190 ENST00000369485.4:c.1630+29A>C chr6.hg19:g.89323961T>G NA E1P513|E1P514|O43483|O60257|O60351|Q5TCW8|Q8WUM8 hg19 CCDS5017.1 0.02 4.995498 ATAxAAT COVERED NOVEL RNGTT-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041469.1 1 6.318221 KEEP 0 0 0 21 643 TT 0.999869 0.999868 0 - 8 60 313 0 0 22.265679 115 60 4246 167 ENST00000369485.4 0.065041 0.999999 SRSF12 135295 __UNKNOWN__ __UNKNOWN__ 6 89805888 89805888 __UNKNOWN__ 3'UTR SNP C C T rs1054973 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:89805888C>T ENST00000452027.2 - 0 3388 NM_080743.4 NP_542781.3 Q8WXF0 SRS12_HUMAN serine/arginine-rich splicing factor 12 NA NA cytoplasmic transport (GO:0016482)|mRNA 5'-splice site recognition (GO:0000395)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|spliceosomal tri-snRNP complex assembly (GO:0000244) nucleoplasm (GO:0005654) nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RS domain binding (GO:0050733)|unfolded protein binding (GO:0051082) autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4) 8 TCTCTCATTTCTTTCTAAACA 0.368 NA C||| 1789 0.357228 0.2753 0.4006 5008 , , NA 18744 0.6706 NA 0.166 False NA ,,, NA NA NA 2504 0.3108 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF449428 CCDS47459.1 6q16.1 2013-02-12 2010-06-22 2010-06-22 ENSG00000154548 ENSG00000154548 135295 Serine/arginine-rich splicing factors, RNA binding motif (RRM) containing 21220 protein-coding gene gene with protein product splicing factor, arginine/serine-rich 19, SR splicing factor 12 splicing factor, arginine/serine-rich 13B SFRS13B NA 11684676, 20516191 Standard NM_080743 NM_080743 NA Approved SRrp35, SFRS19 uc021zcq.1 Q8WXF0 OTTHUMG00000015192 ENST00000452027.2:c.*2409G>A chr6.hg19:g.89805888C>T NA B2RA22|Q5T7K0|Q8WW25 hg19 CCDS47459.1 0.02 5.932787 TTTxTTT COVERED NOVEL SRSF12-001 KNOWN non_canonical_conserved|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041474.2 2 10.834813 KEEP 0 0 0 36 1246 CC 0.999999 0.999999 0 - 6 60 213 0 0 12.659294 180 60 6791 249 ENST00000452027.2 0.032258 1 SRSF12 135295 __UNKNOWN__ __UNKNOWN__ 6 89806230 89806230 __UNKNOWN__ 3'UTR SNP G G A rs6938490 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:89806230G>A ENST00000452027.2 - 0 3046 NM_080743.4 NP_542781.3 Q8WXF0 SRS12_HUMAN serine/arginine-rich splicing factor 12 NA NA cytoplasmic transport (GO:0016482)|mRNA 5'-splice site recognition (GO:0000395)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|spliceosomal tri-snRNP complex assembly (GO:0000244) nucleoplasm (GO:0005654) nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RS domain binding (GO:0050733)|unfolded protein binding (GO:0051082) autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4) 8 CAAACCAAATGGTATCCTCCT 0.358 NA G||| 1140 0.227636 0.1989 0.1686 5008 , , NA 19099 0.1171 NA 0.3111 False NA ,,, NA NA NA 2504 0.3364 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF449428 CCDS47459.1 6q16.1 2013-02-12 2010-06-22 2010-06-22 ENSG00000154548 ENSG00000154548 135295 Serine/arginine-rich splicing factors, RNA binding motif (RRM) containing 21220 protein-coding gene gene with protein product splicing factor, arginine/serine-rich 19, SR splicing factor 12 splicing factor, arginine/serine-rich 13B SFRS13B NA 11684676, 20516191 Standard NM_080743 NM_080743 NA Approved SRrp35, SFRS19 uc021zcq.1 Q8WXF0 OTTHUMG00000015192 ENST00000452027.2:c.*2067C>T chr6.hg19:g.89806230G>A NA B2RA22|Q5T7K0|Q8WW25 hg19 CCDS47459.1 0.02 5.727794 AATxGTA COVERED NOVEL SRSF12-001 KNOWN non_canonical_conserved|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041474.2 0 6.054666 KEEP 0 1 31 31 1108 GG 0.999997 0.999997 0 - 6 60 219 0 0 13.091852 192 60 7160 270 ENST00000452027.2 0.030303 1 SRSF12 135295 __UNKNOWN__ __UNKNOWN__ 6 89806992 89806992 __UNKNOWN__ 3'UTR SNP A A C rs9451148 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:89806992A>C ENST00000452027.2 - 0 2284 NM_080743.4 NP_542781.3 Q8WXF0 SRS12_HUMAN serine/arginine-rich splicing factor 12 NA NA cytoplasmic transport (GO:0016482)|mRNA 5'-splice site recognition (GO:0000395)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|spliceosomal tri-snRNP complex assembly (GO:0000244) nucleoplasm (GO:0005654) nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RS domain binding (GO:0050733)|unfolded protein binding (GO:0051082) autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4) 8 AAAGTATACAAGTAGAGCTCT 0.284 NA A||| 1749 0.349241 0.2458 0.3977 5008 , , NA 15273 0.6706 NA 0.166 False NA ,,, NA NA NA 2504 0.3119 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF449428 CCDS47459.1 6q16.1 2013-02-12 2010-06-22 2010-06-22 ENSG00000154548 ENSG00000154548 135295 Serine/arginine-rich splicing factors, RNA binding motif (RRM) containing 21220 protein-coding gene gene with protein product splicing factor, arginine/serine-rich 19, SR splicing factor 12 splicing factor, arginine/serine-rich 13B SFRS13B NA 11684676, 20516191 Standard NM_080743 NM_080743 NA Approved SRrp35, SFRS19 uc021zcq.1 Q8WXF0 OTTHUMG00000015192 ENST00000452027.2:c.*1305T>G chr6.hg19:g.89806992A>C NA B2RA22|Q5T7K0|Q8WW25 hg19 CCDS47459.1 0.02 10.906936 ACAxGTA COVERED NOVEL SRSF12-001 KNOWN non_canonical_conserved|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041474.2 2 21.064942 KEEP 0 0 0 70 2261 AA 1 1 0 - 14 60 517 0 0 33.818865 286 60 10562 464 ENST00000452027.2 0.046667 1 UBE2J1 51465 __UNKNOWN__ __UNKNOWN__ 6 90036983 90036983 __UNKNOWN__ 3'UTR SNP T T G rs9344925 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:90036983T>G ENST00000435041.2 - 0 3650 NM_016021.2 NP_057105.2 Q9Y385 UB2J1_HUMAN ubiquitin-conjugating enzyme E2, J1 NA NA ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524) NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(11)|stomach(1) 18 all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0139) AAATAAAATGTCATGAGTTAT 0.333 NA T||| 614 0.122604 0.2284 0.1225 5008 , , NA 17997 0.2093 NA 0.005 False NA ,,, NA NA NA 2504 0.0112 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ245898 CCDS5021.1 6q15 2014-01-28 2012-06-08 ENSG00000198833 ENSG00000198833 51465 Ubiquitin-conjugating enzymes E2 17598 protein-coding gene gene with protein product ubiquitin-conjugating enzyme E2, J1 (UBC6 homolog, yeast) NA 10708578 Standard NM_016021 NM_016021 NA Approved HSPC153, CGI-76, NCUBE1, UBC6 uc003pnc.3 Q9Y385 OTTHUMG00000016337 ENST00000435041.2:c.*2415A>C chr6.hg19:g.90036983T>G NA A8K3F9|Q53F25|Q5W0N4|Q9BZ32|Q9NQL3|Q9NY66|Q9P011|Q9P0S0|Q9UF10 hg19 CCDS5021.1 0.02 8.34655 ATGxCAT COVERED NOVEL UBE2J1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000043742.2 1 13.840796 KEEP 0 0 0 46 1476 TT 1 1 0 - 9 60 333 0 0 20.949662 230 60 8289 333 ENST00000435041.2 0.037657 1 RRAGD 58528 __UNKNOWN__ __UNKNOWN__ 6 90077431 90077431 __UNKNOWN__ 3'UTR SNP G G A rs59412936 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:90077431G>A ENST00000369415.4 - 0 1823 RRAGD_ENST00000359203.3_3'UTR NM_021244.4 NP_067067.1 Ras-related GTP binding D NA NA breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2) 15 all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139) BRCA - Breast invasive adenocarcinoma(108;0.0144) TAGAAAAGTCGTTTTATCAAA 0.338 NA g||| 360 0.071885 0.0008 0.1095 5008 , , NA 19267 0.2629 NA 0.005 False NA ,,, NA NA NA 2504 0.0133 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF272036 CCDS5022.1 6q15-q16 2008-02-05 ENSG00000025039 ENSG00000025039 58528 19903 protein-coding gene gene with protein product 608268 NA 11073942 Standard NM_021244 NM_021244 NA Approved DKFZP761H171, bA11D8.2.1 uc003pnd.4 Q9NQL2 OTTHUMG00000015200 ENST00000369415.4:c.*344C>T chr6.hg19:g.90077431G>A NA hg19 CCDS5022.1 0.02 8.860786 GTCxTTT COVERED NOVEL RRAGD-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041484.1 2 21.368584 KEEP 0 0 0 71 2452 GG 1 1 0 - 7 60 269 0 0 16.677268 220 60 7619 364 ENST00000369415.4 0.030837 1 ANKRD6 22881 __UNKNOWN__ __UNKNOWN__ 6 90321955 90321955 __UNKNOWN__ Intron SNP G G A rs2073272 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:90321955G>A ENST00000522441.1 + 6 1058 ANKRD6_ENST00000520886.2_Intron|ANKRD6_ENST00000369408.5_Intron|ANKRD6_ENST00000485637.1_Intron|ANKRD6_ENST00000520793.1_Intron|ANKRD6_ENST00000339746.4_Intron|ANKRD6_ENST00000447838.2_Intron NM_001242811.1 NP_001229740.1 Q9Y2G4 ANKR6_HUMAN ankyrin repeat domain 6 NA NA negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of JNK cascade (GO:0046330)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096) cytoplasm (GO:0005737)|nucleus (GO:0005634) NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2) 21 all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239) BRCA - Breast invasive adenocarcinoma(108;0.0209) GAAGCATGTTGCTAATATGTC 0.582 NA G||| 1578 0.315096 0.1747 0.402 5008 , , NA 17455 0.6032 NA 0.3141 False NA ,,, NA NA NA 2504 0.1472 NA NA NA NA 0 G ,,,, 735,3357 79,577,1390 8 11 10 ,,,, -0.3 0 6 dbSNP_96 10 2392,5868 363,1666,2101 no intron,intron,intron,intron,intron ANKRD6 NM_001242809.1,NM_001242811.1,NM_001242813.1,NM_001242814.1,NM_014942.4 ,,,, 442,2243,3491 AA,AG,GG 28.9588,17.9619,25.3157 ,,,, ,,,, 90321955 3127,9225 2046 4130 6176 SO:0001627 intron_variant AB023174 CCDS47460.1, CCDS56441.1, CCDS56442.1, CCDS56443.1 6q14.2-q16.1 2013-03-20 ENSG00000135299 ENSG00000135299 22881 Ankyrin repeat domain containing 17280 protein-coding gene gene with protein product 610583 NA Standard NM_001242809 NA Approved KIAA0957 uc003pni.4 Q9Y2G4 OTTHUMG00000015202 ENST00000522441.1:c.418-36G>A chr6.hg19:g.90321955G>A NA B3KUC3|Q5JUJ4|Q5JUJ5|Q8IUQ8|Q9NU24|Q9UFQ9 hg19 CCDS56441.1 0.02 -0.324598 GTTxCTA COVERED NOVEL ANKRD6-006 KNOWN alternative_5_UTR|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000376594.1 0 3.009544 KEEP 0 0 0 10 341 GG 0.992708 0.829622 0 + 3 60 102 0 0 7.112085 34 60 1270 53 ENST00000522441.1 0.081081 0.835716 ANKRD6 22881 __UNKNOWN__ __UNKNOWN__ 6 90326360 90326360 __UNKNOWN__ Missense_Mutation SNP C C T rs2273238 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:90326360C>T ENST00000522441.1 + 8 1339 c.698C>T c.(697-699)aCg>aTg p.T233M ANKRD6_ENST00000369408.5_Missense_Mutation_p.T233M|ANKRD6_ENST00000485637.1_Missense_Mutation_p.T233M|ANKRD6_ENST00000520793.1_Missense_Mutation_p.T200M|ANKRD6_ENST00000339746.4_Missense_Mutation_p.T233M|ANKRD6_ENST00000447838.2_Missense_Mutation_p.T233M NM_001242811.1 NP_001229740.1 Q9Y2G4 ANKR6_HUMAN ankyrin repeat domain 6 233 NA T -> M (in dbSNP:rs2273238). negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of JNK cascade (GO:0046330)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096) cytoplasm (GO:0005737)|nucleus (GO:0005634) p.T233M(1) NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2) 21 all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239) BRCA - Breast invasive adenocarcinoma(108;0.0209) GGAGCAGATACGACCATTGTT 0.478 NA C||| 1111 0.221845 0.348 0.1873 5008 , , NA 22328 0.2619 NA 0.0358 False NA ,,, NA NA NA 2504 0.226 NA NA NA NA 1 Substitution - Missense(1) stomach(1) C MET/THR,MET/THR,MET/THR,MET/THR,MET/THR 1063,2967 144,775,1096 149 151 150 698,698,698,599,698 1.6 0.1 6 dbSNP_100 150 326,8046 3,320,3863 yes missense,missense,missense,missense,missense ANKRD6 NM_001242809.1,NM_001242811.1,NM_001242813.1,NM_001242814.1,NM_014942.4 81,81,81,81,81 147,1095,4959 TT,TC,CC 3.8939,26.3772,11.1998 benign,benign,benign,benign,benign 233/728,233/728,233/693,200/664,233/723 90326360 1389,11013 2015 4186 6201 SO:0001583 missense AB023174 CCDS47460.1, CCDS56441.1, CCDS56442.1, CCDS56443.1 6q14.2-q16.1 2013-03-20 ENSG00000135299 ENSG00000135299 22881 Ankyrin repeat domain containing 17280 protein-coding gene gene with protein product 610583 NA Standard NM_001242809 NA Approved KIAA0957 uc003pni.4 Q9Y2G4 OTTHUMG00000015202 ENST00000522441.1:c.698C>T chr6.hg19:g.90326360C>T ENSP00000430985:p.Thr233Met NA B3KUC3|Q5JUJ4|Q5JUJ5|Q8IUQ8|Q9NU24|Q9UFQ9 hg19 CCDS56441.1 0.02 11.138327 ATAxGAC COVERED 414 0.18956043956043955 173 0.3516260162601626 76 0.20994475138121546 135 0.23601398601398602 30 0.0395778364116095 C 8.308 0.821392 0.16678 0.263772 0.038939 ENSG00000135299 ENST00000369408;ENST00000339746;ENST00000447838;ENST00000522441;ENST00000485637;ENST00000520793 T;T;T;T;T;T 0.64260 -0.08;-0.08;-0.08;-0.08;-0.08;-0.09 5.66 1.64 0.23874 Ankyrin repeat-containing domain (4); 0.985279 0.08275 N 0.970877 T 0.36744 0.0978 L 0.28115 0.83 0.42899 P 0.00577799999999995 P;P;P;P 0.43477 0.808;0.763;0.721;0.645 B;P;B;P 0.45276 0.295;0.475;0.343;0.475 T 0.07252 -1.0782 9 0.33940 T 0.23 -2.7877 12.035 0.53420 0.0:0.5034:0.2995:0.1971 rs2273238;rs58518253;rs2273238 200;233;233;233 B3KUC3;Q9Y2G4;Q9Y2G4-1;C9JJE8 .;ANKR6_HUMAN;.;. M 233;233;233;233;233;200 ENSP00000358416:T233M;ENSP00000345767:T233M;ENSP00000396771:T233M;ENSP00000430985:T233M;ENSP00000430954:T233M;ENSP00000429782:T200M ENSP00000345767:T233M T + 2 0 ANKRD6 90383081 0.913000 0.31002 0.093000 0.20910 0.083000 0.17756 1.358000 0.34102 -0.007000 0.14345 -0.300000 0.09419 ACG NOVEL ANKRD6-006 KNOWN alternative_5_UTR|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000376594.1 1 15.649695 KEEP 0 0 0 52 1778 CC 1 1 0 + 8 60 295 0 0 17.952916 242 60 8437 389 ENST00000522441.1 0.032 1 LYRM2 57226 __UNKNOWN__ __UNKNOWN__ 6 90340734 90340734 __UNKNOWN__ Intron SNP G G A rs9344950 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:90340734G>A ENST00000520441.1 - 2 221 ANKRD6_ENST00000369408.5_3'UTR|ANKRD6_ENST00000520793.1_3'UTR|ANKRD6_ENST00000522441.1_3'UTR|ANKRD6_ENST00000339746.4_3'UTR|ANKRD6_ENST00000447838.2_3'UTR Q9NU23 LYRM2_HUMAN LYR motif containing 2 NA NA mitochondrion (GO:0005739) kidney(1)|large_intestine(1)|lung(1) 3 all_cancers(76;2.76e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;3.72e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0131) CACCAATAAAGAGGAAATATG 0.363 NA G||| 807 0.161142 0.1657 0.1369 5008 , , NA 21008 0.2212 NA 0.1789 False NA ,,, NA NA NA 2504 0.092 NA NA NA NA 0 G ,,,, 596,3048 56,484,1282 12 10 10 ,,,, -1.9 0 6 dbSNP_119 10 1355,6759 117,1121,2819 no utr-3,utr-3,utr-3,utr-3,utr-3 ANKRD6 NM_001242809.1,NM_001242811.1,NM_001242813.1,NM_001242814.1,NM_014942.4 ,,,, 173,1605,4101 AA,AG,GG 16.6995,16.3557,16.593 ,,,, ,,,, 90340734 1951,9807 1822 4057 5879 SO:0001627 intron_variant BC009782 CCDS5023.1 6q15 2006-09-19 ENSG00000083099 ENSG00000083099 57226 LYR motif containing 25229 protein-coding gene gene with protein product NA 12477932 Standard NM_020466 NM_020466 NA Approved DJ122O8.2 uc003pnm.3 Q9NU23 OTTHUMG00000015203 ENST00000520441.1:c.203+6709C>T chr6.hg19:g.90340734G>A NA B2R4U2|E1P517 hg19 0.02 19.3902 AAAxAGG COVERED NOVEL LYRM2-007 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000375696.1 4 22.572566 KEEP 0 0 0 75 2667 GG 1 1 0 - 15 60 511 0 0 28.753959 509 60 19164 719 ENST00000520441.1 0.028626 1 MDN1 23195 __UNKNOWN__ __UNKNOWN__ 6 90362783 90362783 __UNKNOWN__ Missense_Mutation SNP A A C rs4707557 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:90362783A>C ENST00000369393.3 - 94 15868 c.15753T>G c.(15751-15753)aaT>aaG p.N5251K MDN1_ENST00000428876.1_Missense_Mutation_p.N5251K Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 5251 NA N -> K (in dbSNP:rs4707557). ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461) cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082) NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) CTGGTTTCTCATTTTCTGTCT 0.413 NA A||| 1089 0.217452 0.2837 0.2853 5008 , , NA 16038 0.4554 NA 0.0239 False NA ,,, NA NA NA 2504 0.0337 NA NA NA NA 0 A LYS/ASN 1060,3346 388.4+/-326.9 124,812,1267 286 269 275 15753 1.3 0.3 6 dbSNP_111 275 167,8433 77.2+/-139.8 1,165,4134 yes missense MDN1 NM_014611.1 94 125,977,5401 CC,CA,AA 1.9419,24.0581,9.4341 benign 5251/5597 90362783 1227,11779 2203 4300 6503 SO:0001583 missense AF503925 CCDS5024.1 6q15 2014-01-28 ENSG00000112159 ENSG00000112159 23195 18302 protein-coding gene gene with protein product NA 9205841, 12102729 Standard XM_005248699 NA Approved KIAA0301 uc003pnn.1 Q9NU22 OTTHUMG00000015213 ENST00000369393.3:c.15753T>G chr6.hg19:g.90362783A>C ENSP00000358400:p.Asn5251Lys NA O15019|Q5T794 hg19 CCDS5024.1 0.02 10.844318 CTCxTTT COVERED 522 0.23901098901098902 144 0.2926829268292683 82 0.2265193370165746 275 0.4807692307692308 21 0.027704485488126648 A 7.579 0.668333 0.14776 0.240581 0.019419 ENSG00000112159 ENST00000369393;ENST00000428876 T;T 0.41065 1.01;1.01 6.17 1.34 0.21922 . 0.463848 0.23249 N 0.050264 T 0.07007 0.0178 N 0.16478 0.41 0.80722 P 0.0 B 0.23650 0.089 B 0.14578 0.011 T 0.32455 -0.9906 9 0.07990 T 0.79 . 7.6476 0.28329 0.6977:0.0:0.3023:0.0 rs4707557;rs52795869;rs59520815;rs4707557 5251 Q9NU22 MDN1_HUMAN K 5251 ENSP00000358400:N5251K;ENSP00000413970:N5251K ENSP00000358400:N5251K N - 3 2 MDN1 90419504 0.201000 0.23410 0.300000 0.25030 0.272000 0.26649 0.092000 0.15066 0.219000 0.20840 0.533000 0.62120 AAT NOVEL MDN1-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041514.2 2 20.761113 KEEP 0 0 0 69 2151 AA 1 1 0 - 12 60 415 0 0 25.656065 284 60 10115 473 ENST00000369393.3 0.040541 1 MDN1 23195 __UNKNOWN__ __UNKNOWN__ 6 90461123 90461123 __UNKNOWN__ Intron SNP G G A rs4707563 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:90461123G>A ENST00000369393.3 - 23 3343 MDN1_ENST00000428876.1_Intron Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) NA NA ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461) cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082) NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) TATCAAGTTCGGGGCAGCGAG 0.413 NA G||| 819 0.163538 0.177 0.1398 5008 , , NA 19750 0.2163 NA 0.1809 False NA ,,, NA NA NA 2504 0.09 NA NA NA NA 0 G 838,3568 321.3+/-297.0 85,668,1450 86 76 79 1.9 0 6 dbSNP_111 79 1535,7065 280.5+/-294.5 142,1251,2907 no intron MDN1 NM_014611.1 227,1919,4357 AA,AG,GG 17.8488,19.0195,18.2454 90461123 2373,10633 2203 4300 6503 SO:0001627 intron_variant AF503925 CCDS5024.1 6q15 2014-01-28 ENSG00000112159 ENSG00000112159 23195 18302 protein-coding gene gene with protein product NA 9205841, 12102729 Standard XM_005248699 NA Approved KIAA0301 uc003pnn.1 Q9NU22 OTTHUMG00000015213 ENST00000369393.3:c.3227+26C>T chr6.hg19:g.90461123G>A NA O15019|Q5T794 hg19 CCDS5024.1 0.02 13.346611 TTCxGGG COVERED NOVEL MDN1-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041514.2 1 20.466371 KEEP 0 0 0 68 2379 GG 1 1 0 - 9 60 345 0 0 21.028053 308 60 10826 487 ENST00000369393.3 0.028391 1 MDN1 23195 __UNKNOWN__ __UNKNOWN__ 6 90497589 90497589 __UNKNOWN__ Missense_Mutation SNP A A C rs4707569 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:90497589A>C ENST00000369393.3 - 8 1433 c.1318T>G c.(1318-1320)Ttt>Gtt p.F440V MDN1_ENST00000428876.1_Missense_Mutation_p.F440V Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 440 NA F -> V (in dbSNP:rs4707569). ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461) cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082) NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) GTTGCAAAAAACTGAAATCCA 0.463 NA A||| 771 0.153954 0.1399 0.1398 5008 , , NA 17057 0.2163 NA 0.1819 False NA ,,, NA NA NA 2504 0.09 NA NA NA NA 0 A VAL/PHE 719,3687 292.1+/-281.9 63,593,1547 102 97 99 1318 4.4 1 6 dbSNP_111 99 1536,7064 284.2+/-296.5 142,1252,2906 yes missense MDN1 NM_014611.1 50 205,1845,4453 CC,CA,AA 17.8605,16.3187,17.3382 benign 440/5597 90497589 2255,10751 2203 4300 6503 SO:0001583 missense AF503925 CCDS5024.1 6q15 2014-01-28 ENSG00000112159 ENSG00000112159 23195 18302 protein-coding gene gene with protein product NA 9205841, 12102729 Standard XM_005248699 NA Approved KIAA0301 uc003pnn.1 Q9NU22 OTTHUMG00000015213 ENST00000369393.3:c.1318T>G chr6.hg19:g.90497589A>C ENSP00000358400:p.Phe440Val NA O15019|Q5T794 hg19 CCDS5024.1 0.02 7.211635 AAAxCTG COVERED 370 0.16941391941391942 54 0.10975609756097561 45 0.12430939226519337 127 0.22202797202797203 144 0.18997361477572558 A 11.90 1.777902 0.31502 0.163187 0.178605 ENSG00000112159 ENST00000369393;ENST00000428876 T;T 0.46819 0.86;0.86 5.65 4.45 0.53987 ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1); 0.051750 0.85682 D 0.000000 T 0.16428 0.0395 N 0.13235 0.315 0.27005 P 0.9648156999999999 P;B 0.40000 0.698;0.036 B;B 0.40702 0.338;0.065 T 0.07009 -1.0795 9 0.51188 T 0.08 . 8.4306 0.32755 0.7872:0.0:0.2128:0.0 rs4707569;rs61658597;rs4707569 440;440 Q6ZVV6;Q9NU22 .;MDN1_HUMAN V 440 ENSP00000358400:F440V;ENSP00000413970:F440V ENSP00000358400:F440V F - 1 0 MDN1 90554310 1.000000 0.71417 1.000000 0.80357 0.984000 0.73092 3.988000 0.56951 1.031000 0.39867 0.460000 0.39030 TTT NOVEL MDN1-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041514.2 1 15.944407 KEEP 0 0 0 53 1635 AA 1 1 0 - 6 60 218 0 0 13.662545 148 60 5324 261 ENST00000369393.3 0.038961 1 MDN1 23195 __UNKNOWN__ __UNKNOWN__ 6 90500130 90500130 __UNKNOWN__ Intron SNP C C T rs16882132 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:90500130C>T ENST00000369393.3 - 6 971 MDN1_ENST00000428876.1_Intron Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) NA NA ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461) cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082) NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) CCTAAAGAGGCAAGACAAAAG 0.453 NA C||| 768 0.153355 0.1384 0.1398 5008 , , NA 19757 0.2163 NA 0.1809 False NA ,,, NA NA NA 2504 0.09 NA NA NA NA 0 C 688,3718 286.9+/-279.0 58,572,1573 105 111 109 -3.4 0 6 dbSNP_123 109 1538,7062 289.6+/-299.4 142,1254,2904 no intron MDN1 NM_014611.1 200,1826,4477 TT,TC,CC 17.8837,15.6151,17.1152 90500130 2226,10780 2203 4300 6503 SO:0001627 intron_variant AF503925 CCDS5024.1 6q15 2014-01-28 ENSG00000112159 ENSG00000112159 23195 18302 protein-coding gene gene with protein product NA 9205841, 12102729 Standard XM_005248699 NA Approved KIAA0301 uc003pnn.1 Q9NU22 OTTHUMG00000015213 ENST00000369393.3:c.856-10G>A chr6.hg19:g.90500130C>T NA O15019|Q5T794 hg19 CCDS5024.1 0.02 5.8833 AGGxAAG COVERED NOVEL MDN1-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041514.2 0 7.825537 KEEP 0 0 0 26 937 CC 0.999957 0.999957 0 - 7 60 250 0 0 15.691949 162 60 6172 239 ENST00000369393.3 0.04142 1 BACH2 60468 __UNKNOWN__ __UNKNOWN__ 6 90689840 90689840 __UNKNOWN__ Intron SNP C C G rs10455167 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:90689840C>G ENST00000257749.4 - 7 951 BACH2_ENST00000343122.3_Intron|BACH2_ENST00000537989.1_Intron NM_021813.2 NP_068585.1 Q9BYV9 BACH2_HUMAN BTB and CNC homology 1, basic leucine zipper transcription factor 2 NA NA cytoplasm (GO:0005737)|nucleus (GO:0005634) RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206) central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 45 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) BRCA - Breast invasive adenocarcinoma(108;0.0799) atggtgaaaccccatctctac 0.532 NA C||| 1357 0.270966 0.3669 0.3545 5008 , , NA 16286 0.2788 NA 0.2197 False NA ,,, NA NA NA 2504 0.1268 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL121787 CCDS5026.1 6q15 2013-01-10 ENSG00000112182 ENSG00000112182 60468 BTB/POZ domain containing, basic leucine zipper proteins 14078 protein-coding gene gene with protein product 605394 NA 10949928, 12829606 Standard NM_021813 NM_001170794 NA Approved BTBD25 uc003pnw.3 Q9BYV9 OTTHUMG00000015216 ENST00000257749.4:c.244-28259G>C chr6.hg19:g.90689840C>G NA E1P518|Q59H70|Q5T793|Q9NTS5 hg19 CCDS5026.1 0.02 -0.043866 AACxCCA UNCOVERED NOVEL BACH2-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041522.2 3 2.708676 KEEP 0 0 0 9 311 CC 0.99254 0.023894 0 - 2 60 78 0 0 7.292845 3 60 106 15 ENST00000257749.4 0.4 0.024074 MAP3K7 6885 __UNKNOWN__ __UNKNOWN__ 6 91269510 91269510 __UNKNOWN__ Intron SNP C C A rs9294461 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:91269510C>A ENST00000369329.3 - 5 644 MAP3K7_ENST00000369325.3_Intron|MAP3K7_ENST00000369332.3_Intron|MAP3K7_ENST00000369327.3_Intron NM_145331.2 NP_663304.1 O43318 M3K7_HUMAN mitogen-activated protein kinase kinase kinase 7 NA NA activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|Fc-epsilon receptor signaling pathway (GO:0038095)|histone H3 acetylation (GO:0043966)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of ripoptosome assembly involved in necroptotic process (GO:1902443)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|regulation of reactive oxygen species metabolic process (GO:2000377)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666) Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110) endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 28 all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164) OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429) TTATATACTGCAGGCACAAAA 0.373 NA C||| 229 0.0457268 0.0499 0.0346 5008 , , NA 16914 0.0407 NA 0.0487 False NA ,,, NA NA NA 2504 0.0501 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB009356 CCDS5027.1, CCDS5028.1, CCDS5029.1, CCDS5030.1 6q15 2011-06-09 ENSG00000135341 ENSG00000135341 6885 Mitogen-activated protein kinase cascade / Kinase kinase kinases 6859 protein-coding gene gene with protein product 602614 TAK1 NA 9466656 Standard NM_145331 NM_003188 NA Approved MEKK7 uc003pnz.2 O43318 OTTHUMG00000015217 ENST00000369329.3:c.482+284G>T chr6.hg19:g.91269510C>A NA B2RE27|E1P523|O43317|O43319|Q5TDN2|Q5TDN3|Q5TDT7|Q9NTR3|Q9NZ70 hg19 CCDS5028.1 0.02 7.66027 CTGxAGG COVERED NOVEL MAP3K7-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000041530.1 0 13.243551 KEEP 0 0 0 44 1580 CC 1 1 0 - 8 60 288 0 0 17.248653 242 60 9318 355 ENST00000369329.3 0.032 1 EPHA7 2045 __UNKNOWN__ __UNKNOWN__ 6 93973686 93973686 __UNKNOWN__ Intron SNP A A C rs901455 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:93973686A>C ENST00000369303.4 - 9 1927 NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 NA NA brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290) dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211) ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713) NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) TATATATTTAATATTCAGTAC 0.313 NA A||| 2554 0.509984 0.2769 0.4726 5008 , , NA 15422 0.6429 NA 0.498 False NA ,,, NA NA NA 2504 0.727 NA NA NA NA 0 A 423,961 68,287,337 75 73 74 2.8 0 6 dbSNP_86 74 1570,1610 364,842,384 no intron EPHA7 NM_004440.3 432,1129,721 CC,CA,AA 49.3711,30.5636,43.6678 93973686 1993,2571 692 1590 2282 SO:0001627 intron_variant L36642 CCDS5031.1, CCDS75494.1 6q16.3 2013-02-11 2004-10-28 ENSG00000135333 ENSG00000135333 2045 EPH receptors, Sterile alpha motif (SAM) domain containing, Fibronectin type III domain containing 3390 protein-coding gene gene with protein product 602190 EphA7 NA 9267020 Standard NM_004440 NA Approved Hek11 uc003poe.3 Q15375 OTTHUMG00000015228 ENST00000369303.4:c.1743-53T>G chr6.hg19:g.93973686A>C NA A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124 hg19 CCDS5031.1 0.02 2.443409 TTAxTAT COVERED NOVEL EPHA7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041545.1 0 2.406477 KEEP 0 0 0 8 229 AA 0.99257 0.983602 0 - 39 60 1462 0 0 147.048221 23 60 851 77 ENST00000369303.4 0.629032 0.990964 FHL5 9457 __UNKNOWN__ __UNKNOWN__ 6 97058574 97058574 __UNKNOWN__ Missense_Mutation SNP G G A rs2252816 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:97058574G>A ENST00000326771.2 + 6 1011 c.631G>A c.(631-633)Gtg>Atg p.V211M FHL5_ENST00000541107.1_Missense_Mutation_p.V211M NM_020482.4 NP_065228.4 Q5TD97 FHL5_HUMAN four and a half LIM domains 5 211 LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}. NA V -> M (in dbSNP:rs2252816). {ECO:0000269|PubMed:11327716, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}. positive regulation of transcription from RNA polymerase II promoter (GO:0045944) nucleus (GO:0005634) transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270) endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1) 27 all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204) BRCA - Breast invasive adenocarcinoma(108;0.0948) TCCATTCTGCGTGGACTGCTA 0.438 NA G||| 1692 0.337859 0.0371 0.4971 5008 , , NA 18493 0.5625 NA 0.3887 False NA ,,, NA NA NA 2504 0.3476 NA NA NA NA 0 G MET/VAL,MET/VAL 428,3978 208.2+/-229.3 16,396,1791 230 212 218 631,631 -11.8 0 6 dbSNP_100 218 3248,5352 488.2+/-372.3 597,2054,1649 yes missense,missense FHL5 NM_001170807.1,NM_020482.4 21,21 613,2450,3440 AA,AG,GG 37.7674,9.714,28.2639 benign,benign 211/285,211/285 97058574 3676,9330 2203 4300 6503 SO:0001583 missense AF278541 CCDS5035.1 6q16.1-q16.3 2008-02-05 ENSG00000112214 ENSG00000112214 9457 17371 protein-coding gene gene with protein product 605126 NA Standard NM_020482 NM_020482 NA Approved FLJ33049, ACT, dJ393D12.2 uc003pot.2 Q5TD97 OTTHUMG00000015239 ENST00000326771.2:c.631G>A chr6.hg19:g.97058574G>A ENSP00000326022:p.Val211Met NA B2RBD1|E1P526|Q5TD98|Q8WW21|Q9NQU2 hg19 CCDS5035.1 0.02 13.55231 TGCxTGG COVERED 795 0.364010989010989 20 0.04065040650406504 163 0.45027624309392267 309 0.5402097902097902 303 0.3997361477572559 G 17.66 3.445731 0.63178 0.09714 0.377674 ENSG00000112214 ENST00000541107;ENST00000326771 D;D 0.87334 -2.24;-2.24 5.88 -11.8 0.00035 Zinc finger, LIM-type (4); 0.456393 0.16131 N 0.228209 T 0.73110 0.3545 M 0.82716 2.605 0.58432 P 5.999999999950489E-6 P 0.35107 0.484 B 0.36666 0.23 T 0.56757 -0.7926 9 0.54805 T 0.06 . 8.8785 0.35360 0.1348:0.5335:0.2361:0.0955 rs2252816;rs17851932;rs17856840;rs52821839;rs2252816 211 Q5TD97 FHL5_HUMAN M 211 ENSP00000442357:V211M;ENSP00000326022:V211M ENSP00000326022:V211M V + 1 0 FHL5 97165295 0.000000 0.05858 0.044000 0.18714 0.988000 0.76386 -1.087000 0.03383 -2.198000 0.00749 -0.271000 0.10264 GTG NOVEL FHL5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041559.1 3 19.562995 KEEP 0 0 0 65 2273 GG 1 1 0 + 12 60 451 0 0 28.867213 293 60 10270 472 ENST00000326771.2 0.039344 1 FBXL4 26235 __UNKNOWN__ __UNKNOWN__ 6 99322354 99322354 __UNKNOWN__ Intron SNP C C T rs3765239 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:99322354C>T ENST00000369244.2 - 10 2131 FBXL4_ENST00000229971.1_Intron NM_001278716.1 NP_001265645.1 Q9UKA2 FBXL4_HUMAN F-box and leucine-rich repeat protein 4 NA NA ubiquitin-dependent protein catabolic process (GO:0006511) mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151) central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2) 18 all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197) BRCA - Breast invasive adenocarcinoma(108;0.0413) aaacaaaacaCCTTAAGTATA 0.279 NA C||| 1248 0.249201 0.1808 0.1628 5008 , , NA 18042 0.496 NA 0.1302 False NA ,,, NA NA NA 2504 0.271 NA NA NA NA 0 C 768,3636 289.8+/-280.6 67,634,1501 44 47 46 -1 0.1 6 dbSNP_107 46 1045,7555 217.6+/-256.2 61,923,3316 no intron FBXL4 NM_012160.3 128,1557,4817 TT,TC,CC 12.1512,17.4387,13.9419 99322354 1813,11191 2202 4300 6502 SO:0001627 intron_variant AF176699 CCDS5041.1 6q16.1-q16.3 2011-06-09 ENSG00000112234 ENSG00000112234 26235 F-boxes / Leucine-rich repeats 13601 protein-coding gene gene with protein product 605654 NA 10531035 Standard NM_012160 NA Approved FBL4, FBL5 uc003ppf.1 Q9UKA2 OTTHUMG00000015259 ENST00000369244.2:c.1703-37G>A chr6.hg19:g.99322354C>T NA B2R7Q5|E1P530|O95919|Q5BJH0|Q9UJU0 hg19 CCDS5041.1 0.02 8.410055 ACAxCTT COVERED NOVEL FBXL4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041587.2 2 8.728196 KEEP 0 0 0 29 1005 CC 0.999997 0.999997 0 - 9 60 309 0 0 19.087129 201 60 7208 249 ENST00000369244.2 0.042857 1 COQ3 51805 __UNKNOWN__ __UNKNOWN__ 6 99825348 99825348 __UNKNOWN__ Missense_Mutation SNP T T C rs11548336 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:99825348T>C ENST00000254759.3 - 4 424 c.400A>G c.(400-402)Aaa>Gaa p.K134E COQ3_ENST00000369242.1_5'UTR|COQ3_ENST00000479163.1_5'UTR NM_017421.3 NP_059117.3 Q9NZJ6 COQ3_HUMAN coenzyme Q3 methyltransferase 134 NA K -> E (in dbSNP:rs11548336). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.1}. glycerol metabolic process (GO:0006071)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744) mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739) 2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity (GO:0008425)|3-demethylubiquinone-9 3-O-methyltransferase activity (GO:0008689)|hexaprenyldihydroxybenzoate methyltransferase activity (GO:0004395)|O-methyltransferase activity (GO:0008171) cervix(1)|lung(5)|upper_aerodigestive_tract(2) 8 all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186) BRCA - Breast invasive adenocarcinoma(108;0.0625) GGAATTGTTTTCAGAAGATTG 0.348 NA T||| 1594 0.318291 0.2428 0.2017 5008 , , NA 12394 0.496 NA 0.3151 False NA ,,, NA NA NA 2504 0.3231 NA NA NA NA 0 T GLU/LYS 1205,3201 401.9+/-332.2 174,857,1172 76 67 70 400 5.6 1 6 dbSNP_120 70 2586,6014 400.1+/-346.7 406,1774,2120 yes missense COQ3 NM_017421.3 56 580,2631,3292 CC,CT,TT 30.0698,27.3491,29.1481 benign 134/370 99825348 3791,9215 2203 4300 6503 SO:0001583 missense AF193016 CCDS5042.1 6q21 2013-05-01 2013-05-01 ENSG00000132423 ENSG00000132423 51805 2.1.1.114 18175 protein-coding gene gene with protein product polyprenyldihydroxybenzoate methyltransferase 605196 coenzyme Q3 homolog, methyltransferase (yeast), coenzyme Q3 homolog, methyltransferase (S. cerevisiae) NA 10777520 Standard NM_017421 NM_017421 NA Approved bA9819.1 uc003ppk.3 Q9NZJ6 OTTHUMG00000015264 ENST00000254759.3:c.400A>G chr6.hg19:g.99825348T>C ENSP00000254759:p.Lys134Glu NA B3KPX0|Q5T061|Q6P4F0|Q8IXG6|Q96BG1|Q9H0N1 hg19 CCDS5042.1 0.02 20.492714 TTTxCAG COVERED 704 0.32234432234432236 122 0.24796747967479674 79 0.21823204419889503 253 0.4423076923076923 250 0.32981530343007914 T 15.33 2.802452 0.50315 0.273491 0.300698 ENSG00000132423 ENST00000254759 T 0.13420 2.59 5.61 5.61 0.85477 . 0.196194 0.51477 D 0.000085 T 0.04137 0.0115 N 0.21617 0.685 0.09310 P 1.0 B 0.21821 0.061 B 0.20184 0.028 T 0.34925 -0.9809 9 0.22109 T 0.4 -30.8554 14.3797 0.66902 0.0:0.0:0.0:1.0 rs11548336;rs17355554;rs45447894;rs58257605 134 Q9NZJ6 COQ3_HUMAN E 134 ENSP00000254759:K134E ENSP00000254759:K134E K - 1 0 COQ3 99932069 1.000000 0.71417 1.000000 0.80357 0.988000 0.76386 6.681000 0.74523 2.147000 0.66899 0.477000 0.44152 AAA NOVEL COQ3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041602.1 4 23.773755 KEEP 0 0 0 79 2577 TT 1 1 0 - 17 60 612 0 0 36.452021 529 60 19289 752 ENST00000254759.3 0.031136 1 PNISR 25957 __UNKNOWN__ __UNKNOWN__ 6 99847568 99847568 __UNKNOWN__ 3'UTR SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:99847568C>T ENST00000369239.5 - 0 3470 NM_032870.2 NP_116259.2 Q8TF01 PNISR_HUMAN PNN-interacting serine/arginine-rich protein NA NA cytoplasm (GO:0005737)|nucleus (GO:0005634) poly(A) RNA binding (GO:0044822) breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 ACTTGAAAATCCCCAAAATAG 0.343 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK027759 CCDS5043.1 6q16.3 2011-06-06 2011-06-06 2011-06-06 ENSG00000132424 ENSG00000132424 25957 21222 protein-coding gene gene with protein product chromosome 6 open reading frame 111, splicing factor, arginine/serine-rich 18 C6orf111, SFRS18 NA 14578391 Standard NM_032870 NM_032870 NA Approved FLJ14752, bA98I9.2, DKFZp564B0769, SRrp130 uc021zdd.1 Q8TF01 OTTHUMG00000015262 ENST00000369239.5:c.*848G>A chr6.hg19:g.99847568C>T NA A8K540|E1P5D2|Q5T064|Q5T065|Q6P2B4|Q6P2N4|Q6PJ93|Q6PK36|Q7Z640|Q8N2L1|Q8TF00|Q96K10|Q96SI3|Q96SM5|Q9P076|Q9P0C0|Q9Y4N3 hg19 CCDS5043.1 0.02 6.21466 AATxCCC COVERED NOVEL PNISR-007 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041598.1 0 13.844545 KEEP 0 0 0 46 1577 CC 1 1 0 - 8 60 283 0 0 17.758475 180 60 6481 267 ENST00000369239.5 0.042553 1 SIM1 6492 __UNKNOWN__ __UNKNOWN__ 6 100833779 100833779 __UNKNOWN__ 3'UTR SNP C C T rs10872578 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:100833779C>T ENST00000369208.3 - 0 7541 P81133 SIM1_HUMAN single-minded family bHLH transcription factor 1 NA NA cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657) nucleus (GO:0005634) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871) breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 79 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) AAATTAGCACCACACAGAAAT 0.368 NA C||| 891 0.177915 0.0053 0.2046 5008 , , NA 15650 0.4018 NA 0.1561 False NA ,,, NA NA NA 2504 0.184 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U70212 CCDS5045.1 6q16.3 2013-10-17 2013-10-17 ENSG00000112246 ENSG00000112246 6492 Basic helix-loop-helix proteins 10882 protein-coding gene gene with protein product 603128 single-minded (Drosophila) homolog 1, single-minded homolog 1 (Drosophila) NA 9199934, 11448938 Standard NM_005068 NM_005068 NA Approved bHLHe14 uc003pqj.4 P81133 OTTHUMG00000015275 ENST00000369208.3:c.*4458G>A chr6.hg19:g.100833779C>T NA Q5TDP7 hg19 CCDS5045.1 0.02 18.534108 CACxACA COVERED NOVEL SIM1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041628.3 0 12.039394 KEEP 0 0 0 40 1428 CC 1 1 0 - 19 60 709 0 0 46.411583 399 60 15072 568 ENST00000369208.3 0.045455 1 SIM1 6492 __UNKNOWN__ __UNKNOWN__ 6 100834674 100834674 __UNKNOWN__ 3'UTR SNP C C T rs2295596 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:100834674C>T ENST00000369208.3 - 0 6646 P81133 SIM1_HUMAN single-minded family bHLH transcription factor 1 NA NA cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657) nucleus (GO:0005634) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871) breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 79 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) TATTGCATCCCGTCTCATTTT 0.383 NA T||| 1301 0.259784 0.0182 0.2997 5008 , , NA 18680 0.5704 NA 0.2356 False NA ,,, NA NA NA 2504 0.2628 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U70212 CCDS5045.1 6q16.3 2013-10-17 2013-10-17 ENSG00000112246 ENSG00000112246 6492 Basic helix-loop-helix proteins 10882 protein-coding gene gene with protein product 603128 single-minded (Drosophila) homolog 1, single-minded homolog 1 (Drosophila) NA 9199934, 11448938 Standard NM_005068 NM_005068 NA Approved bHLHe14 uc003pqj.4 P81133 OTTHUMG00000015275 ENST00000369208.3:c.*3563G>A chr6.hg19:g.100834674C>T NA Q5TDP7 hg19 CCDS5045.1 0.02 8.679721 TCCxGTC COVERED NOVEL SIM1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041628.3 3 4.815093 KEEP 0 0 0 16 536 CC 0.997832 0.997832 0 - 8 60 294 0 0 18.600426 194 60 6783 254 ENST00000369208.3 0.039604 1 SIM1 6492 __UNKNOWN__ __UNKNOWN__ 6 100836636 100836636 __UNKNOWN__ 3'UTR SNP A A T rs17060480 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:100836636A>T ENST00000369208.3 - 0 4684 P81133 SIM1_HUMAN single-minded family bHLH transcription factor 1 NA NA cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657) nucleus (GO:0005634) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871) breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 79 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) TATCTATGAAATCTCTCTAAT 0.323 NA A||| 1300 0.259585 0.0174 0.2997 5008 , , NA 17212 0.5704 NA 0.2356 False NA ,,, NA NA NA 2504 0.2628 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U70212 CCDS5045.1 6q16.3 2013-10-17 2013-10-17 ENSG00000112246 ENSG00000112246 6492 Basic helix-loop-helix proteins 10882 protein-coding gene gene with protein product 603128 single-minded (Drosophila) homolog 1, single-minded homolog 1 (Drosophila) NA 9199934, 11448938 Standard NM_005068 NM_005068 NA Approved bHLHe14 uc003pqj.4 P81133 OTTHUMG00000015275 ENST00000369208.3:c.*1601T>A chr6.hg19:g.100836636A>T NA Q5TDP7 hg19 CCDS5045.1 0.02 8.865154 GAAxTCT COVERED NOVEL SIM1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041628.3 1 2.340996 KEEP 0 1 32 19 591 AA 0.999863 0.999863 0 - 13 60 463 0 0 31.202695 202 60 7387 268 ENST00000369208.3 0.060465 1 ASCC3 10973 __UNKNOWN__ __UNKNOWN__ 6 101054999 101054999 __UNKNOWN__ Intron SNP C C T rs395521 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:101054999C>T ENST00000369162.2 - 31 5130 NM_006828.2 NP_006819.2 Q8N3C0 ASCC3_HUMAN activating signal cointegrator 1 complex subunit 3 NA NA cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634) ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822) breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 92 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) GATGTAGATGCATAACTTTAA 0.289 NA T||| 2875 0.574081 0.6127 0.6153 5008 , , NA 14898 0.7302 NA 0.5408 False NA ,,, NA NA NA 2504 0.3661 NA NA NA NA 0 T 2627,1779 518.8+/-369.8 778,1071,354 45 44 44 -2.5 0 6 dbSNP_80 44 4536,4062 554.5+/-386.5 1208,2120,971 no intron ASCC3 NM_006828.2 1986,3191,1325 TT,TC,CC 47.2435,40.3768,44.9169 101054999 7163,5841 2203 4299 6502 SO:0001627 intron_variant AJ223948 CCDS5046.1, CCDS5047.1, CCDS75497.1 6q16 2008-02-05 2004-07-28 ENSG00000112249 ENSG00000112249 10973 18697 protein-coding gene gene with protein product RNA helicase family 614217 helicase, ATP binding 1 HELIC1 NA 10218103 Standard NM_006828 NM_006828 NA Approved RNAH, ASC1p200, dJ121G13.4, dJ467N11.1 uc003pqk.3 Q8N3C0 OTTHUMG00000015279 ENST00000369162.2:c.4786-35G>A chr6.hg19:g.101054999C>T NA E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0 hg19 CCDS5046.1 0.02 8.410283 ATGxATA COVERED NOVEL ASCC3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041632.2 1 3.346674 KEEP 0 1 34 23 819 CC 0.999909 0.999909 0 - 10 60 364 0 0 23.717908 200 60 7646 245 ENST00000369162.2 0.047619 1 ASCC3 10973 __UNKNOWN__ __UNKNOWN__ 6 101163433 101163433 __UNKNOWN__ Intron SNP A A C rs9403997 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:101163433A>C ENST00000369162.2 - 13 2424 ASCC3_ENST00000522650.1_Intron NM_006828.2 NP_006819.2 Q8N3C0 ASCC3_HUMAN activating signal cointegrator 1 complex subunit 3 NA NA cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634) ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822) breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 92 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) AAACATAAAAAAAATCATGTG 0.299 NA A||| 1995 0.398363 0.2821 0.4957 5008 , , NA 14308 0.5248 NA 0.4722 False NA ,,, NA NA NA 2504 0.2802 NA NA NA NA 0 A 1464,2936 254,956,990 43 43 43 3.6 0 6 dbSNP_119 43 3858,4710 914,2030,1340 no intron ASCC3 NM_006828.2 1168,2986,2330 CC,CA,AA 45.028,33.2727,41.0395 101163433 5322,7646 2200 4284 6484 SO:0001627 intron_variant AJ223948 CCDS5046.1, CCDS5047.1, CCDS75497.1 6q16 2008-02-05 2004-07-28 ENSG00000112249 ENSG00000112249 10973 18697 protein-coding gene gene with protein product RNA helicase family 614217 helicase, ATP binding 1 HELIC1 NA 10218103 Standard NM_006828 NM_006828 NA Approved RNAH, ASC1p200, dJ121G13.4, dJ467N11.1 uc003pqk.3 Q8N3C0 OTTHUMG00000015279 ENST00000369162.2:c.2080-24T>G chr6.hg19:g.101163433A>C NA E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0 hg19 CCDS5046.1 0.02 2.194391 AAAxAAA COVERED NOVEL ASCC3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041632.2 0 4.512492 KEEP 0 0 0 15 460 AA 0.99649 0.995603 0 - 4 60 157 0 0 10.73511 75 60 2693 110 ENST00000369162.2 0.050633 0.99911 ASCC3 10973 __UNKNOWN__ __UNKNOWN__ 6 101304889 101304889 __UNKNOWN__ Intron SNP G G C rs9377237 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:101304889G>C ENST00000369162.2 - 3 586 ASCC3_ENST00000369143.2_3'UTR|ASCC3_ENST00000522650.1_Intron NM_006828.2 NP_006819.2 Q8N3C0 ASCC3_HUMAN activating signal cointegrator 1 complex subunit 3 NA NA cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634) ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822) breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 92 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) ctgtcaaacagttactcaaag 0.323 NA G||| 1512 0.301917 0.354 0.2334 5008 , , NA 20310 0.5149 NA 0.2197 False NA ,,, NA NA NA 2504 0.1452 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ223948 CCDS5046.1, CCDS5047.1, CCDS75497.1 6q16 2008-02-05 2004-07-28 ENSG00000112249 ENSG00000112249 10973 18697 protein-coding gene gene with protein product RNA helicase family 614217 helicase, ATP binding 1 HELIC1 NA 10218103 Standard NM_006828 NM_006828 NA Approved RNAH, ASC1p200, dJ121G13.4, dJ467N11.1 uc003pqk.3 Q8N3C0 OTTHUMG00000015279 ENST00000369162.2:c.241+7050C>G chr6.hg19:g.101304889G>C NA E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0 hg19 CCDS5046.1 0.02 3.965241 ACAxTTA COVERED NOVEL ASCC3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041632.2 1 4.213867 KEEP 0 0 0 14 503 GG 0.995343 0.995343 0 - 5 60 189 0 0 11.952408 133 60 5060 172 ENST00000369162.2 0.036232 1 ASCC3 10973 __UNKNOWN__ __UNKNOWN__ 6 101306502 101306502 __UNKNOWN__ Intron SNP C C G rs9390699 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:101306502C>G ENST00000369162.2 - 3 586 ASCC3_ENST00000369143.2_3'UTR|ASCC3_ENST00000522650.1_Intron NM_006828.2 NP_006819.2 Q8N3C0 ASCC3_HUMAN activating signal cointegrator 1 complex subunit 3 NA NA cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634) ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822) breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 92 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) ATTTATTAATCCACTCATTAT 0.279 NA C||| 1074 0.214457 0.3464 0.1427 5008 , , NA 19042 0.3581 NA 0.0596 False NA ,,, NA NA NA 2504 0.0982 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ223948 CCDS5046.1, CCDS5047.1, CCDS75497.1 6q16 2008-02-05 2004-07-28 ENSG00000112249 ENSG00000112249 10973 18697 protein-coding gene gene with protein product RNA helicase family 614217 helicase, ATP binding 1 HELIC1 NA 10218103 Standard NM_006828 NM_006828 NA Approved RNAH, ASC1p200, dJ121G13.4, dJ467N11.1 uc003pqk.3 Q8N3C0 OTTHUMG00000015279 ENST00000369162.2:c.241+5437G>C chr6.hg19:g.101306502C>G NA E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0 hg19 CCDS5046.1 0.02 13.510035 AATxCAC COVERED NOVEL ASCC3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041632.2 4 13.844058 KEEP 0 0 0 46 1581 CC 1 1 0 - 11 60 420 1 0 26.112709 333 60 12182 450 ENST00000369162.2 0.031977 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 101338808 101338808 __UNKNOWN__ IGR SNP T T A rs9390700 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:101338808T>A NA NA RP3-467N11.1 (7945 upstream) : snoU13 (66227 downstream) NA NA NA CTTGAGCTTTTAGTAAAAATT 0.333 NA T||| 399 0.0796725 0.0045 0.0562 5008 , , NA 15708 0.2937 NA 0.0109 False NA ,,, NA NA NA 2504 0.0481 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.101338808T>A NA hg19 0.02 3.891131 TTTxAGT COVERED NOVEL 0 2 2.707936 KEEP 0 0 0 9 273 TT 0.99254 0.992509 0 5 60 177 0 0 11.445704 96 60 3403 114 0.049505 0.999968 HACE1 57531 __UNKNOWN__ __UNKNOWN__ 6 105176528 105176528 __UNKNOWN__ 3'UTR SNP G G A rs45521835 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:105176528G>A ENST00000262903.4 - 0 4015 HACE1_ENST00000517995.1_5'UTR NM_020771.3 NP_065822.2 Q8IYU2 HACE1_HUMAN HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 NA NA cell cycle (GO:0007049)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Rac protein signal transduction (GO:0016601)|regulation of cell migration (GO:0030334)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|nucleus (GO:0005634) ligase activity (GO:0016874)|Rab GTPase binding (GO:0017137)|Rac GTPase binding (GO:0048365)|ubiquitin-protein transferase activity (GO:0004842) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 44 all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202) BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204) GCATTTCTTCGTGTATGCATG 0.323 NA G||| 631 0.125998 0.0719 0.1772 5008 , , NA 16844 0.1538 NA 0.1163 False NA ,,, NA NA NA 2504 0.1442 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC034982 CCDS5050.1 6q21 2013-01-10 2012-02-23 ENSG00000085382 ENSG00000085382 57531 Ankyrin repeat domain containing 21033 protein-coding gene gene with protein product 610876 NA 10718198 Standard XM_045095 NM_020771 NA Approved KIAA1320 uc003pqu.1 Q8IYU2 OTTHUMG00000015287 ENST00000262903.4:c.*1009C>T chr6.hg19:g.105176528G>A NA A8K6U5|B3KY89|B4DFM6|B4DTQ4|B7Z9X6|E9PGP0|Q5VU99|Q5VUA0|Q8ND12|Q9P2M6 hg19 CCDS5050.1 0.02 10.343619 TTCxTGT COVERED NOVEL HACE1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041643.2 6 12.037053 KEEP 0 0 0 40 1347 GG 1 1 0 - 8 60 291 0 0 16.958718 288 60 9953 379 ENST00000262903.4 0.027027 1 PREP 5550 __UNKNOWN__ __UNKNOWN__ 6 105726036 105726036 __UNKNOWN__ Missense_Mutation SNP C C T rs1051484 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:105726036C>T ENST00000369110.3 - 15 2308 c.2116G>A c.(2116-2118)Gtc>Atc p.V706I NM_002726.4 NP_002717.3 P48147 PPCE_HUMAN prolyl endopeptidase 706 NA V -> I (in dbSNP:rs1051484). {ECO:0000269|PubMed:8089089}. proteolysis (GO:0006508) cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634) serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236) breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202) Oxytocin(DB00107) ATCCAGTCGACGTTCAGGCAC 0.552 NA T||| 1714 0.342252 0.7254 0.2133 5008 , , NA 17536 0.1964 NA 0.165 False NA ,,, NA NA NA 2504 0.2485 NA NA NA NA 0 T ILE/VAL 2769,1637 501.5+/-365.0 879,1011,313 187 179 182 2116 4.5 1 6 dbSNP_86 182 1332,7268 757.2+/-407.5 93,1146,3061 yes missense PREP NM_002726.4 29 972,2157,3374 TT,TC,CC 15.4884,37.1539,31.5316 benign 706/711 105726036 4101,8905 2203 4300 6503 SO:0001583 missense CCDS5053.1 6q22 2008-02-05 ENSG00000085377 ENSG00000085377 5550 3.4.21.26 9358 protein-coding gene gene with protein product 600400 NA 7959018 Standard NM_002726 NA Approved uc003prc.3 P48147 OTTHUMG00000015297 ENST00000369110.3:c.2116G>A chr6.hg19:g.105726036C>T ENSP00000358106:p.Val706Ile NA Q8N6D4 hg19 CCDS5053.1 0.02 -0.421009 CGAxGTT COVERED 675 0.3090659340659341 345 0.7012195121951219 92 0.2541436464088398 119 0.20804195804195805 119 0.15699208443271767 T 6.451 0.451407 0.12223 0.628461 0.154884 ENSG00000085377 ENST00000369110 T 0.28666 1.6 5.77 4.53 0.55603 Peptidase S9, prolyl oligopeptidase, catalytic domain (1); 0.235854 0.44097 N 0.000496 T 0.03608 0.0103 N 0.04373 -0.215 0.54753 P 1.7000000000044757E-5 B 0.02656 0.0 B 0.04013 0.001 T 0.38156 -0.9674 9 0.07644 T 0.81 -12.6298 7.6525 0.28356 0.0:0.0805:0.2879:0.6316 rs1051484;rs3191870;rs3734722;rs56566104;rs58772009;rs1051484 706 P48147 PPCE_HUMAN I 706 ENSP00000358106:V706I ENSP00000358106:V706I V - 1 0 PREP 105832729 1.000000 0.71417 1.000000 0.80357 0.842000 0.47809 2.614000 0.46359 1.120000 0.41904 -0.269000 0.10298 GTC NOVEL PREP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041658.1 0 3.310764 KEEP 0 0 0 11 385 CC 0.993072 0.941832 0 - 4 60 147 0 0 10.63075 44 60 1522 66 ENST00000369110.3 0.083333 0.948402 PREP 5550 __UNKNOWN__ __UNKNOWN__ 6 105729600 105729600 __UNKNOWN__ Intron SNP T T C rs28362537 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:105729600T>C ENST00000369110.3 - 14 2031 RP3-355L5.4_ENST00000452363.1_RNA NM_002726.4 NP_002717.3 P48147 PPCE_HUMAN prolyl endopeptidase NA NA proteolysis (GO:0006508) cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634) serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236) breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202) Oxytocin(DB00107) TAACAACATATATATGTCAAT 0.398 NA T||| 124 0.0247604 0.0015 0.0216 5008 , , NA 19696 0.1032 NA 0.002 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 T 7,4399 12.9+/-30.5 0,7,2196 68 62 64 -9.8 0 6 dbSNP_125 64 5,8595 4.3+/-15.6 0,5,4295 no intron PREP NM_002726.4 0,12,6491 CC,CT,TT 0.0581,0.1589,0.0923 105729600 12,12994 2203 4300 6503 SO:0001627 intron_variant CCDS5053.1 6q22 2008-02-05 ENSG00000085377 ENSG00000085377 5550 3.4.21.26 9358 protein-coding gene gene with protein product 600400 NA 7959018 Standard NM_002726 NA Approved uc003prc.3 P48147 OTTHUMG00000015297 ENST00000369110.3:c.1838+20A>G chr6.hg19:g.105729600T>C NA Q8N6D4 hg19 CCDS5053.1 0.02 11.795598 ATAxATA COVERED NOVEL PREP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041658.1 1 11.132252 KEEP 0 0 0 37 1111 TT 1 1 0 - 9 60 333 0 0 20.529687 258 60 9392 368 ENST00000369110.3 0.033708 1 PRDM1 639 __UNKNOWN__ __UNKNOWN__ 6 106555025 106555025 __UNKNOWN__ Silent SNP G G A rs1010273 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:106555025G>A ENST00000369091.2 + 7 2254 c.2034G>A c.(2032-2034)ccG>ccA p.P678P PRDM1_ENST00000369089.3_Silent_p.P580P|PRDM1_ENST00000369096.4_Silent_p.P714P O75626 PRDM1_HUMAN PR domain containing 1, with ZNF domain 714 NA cell fate commitment (GO:0045165)|eye photoreceptor cell development (GO:0042462)|germ cell development (GO:0007281)|intestinal epithelial cell development (GO:0060576)|maternal placenta development (GO:0001893)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gene expression (GO:0010628)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|trophoblast giant cell differentiation (GO:0060707) cytoplasm (GO:0005737)|nucleus (GO:0005634) metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2) 94 Breast(9;0.022) all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365) all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05) CTGCGGCCCCGGCGCCTGGGC 0.577 NA D, N, Mis, F, S DLBCL G||| 457 0.091254 0.0197 0.0951 5008 , , NA 19218 0.1865 NA 0.1153 False NA ,,, NA NA NA 2504 0.0624 NA NA NA Rec yes 6 6q21 639 PR domain containing 1, with ZNF domain L 0 G , 126,4280 91.1+/-129.8 3,120,2080 156 176 169 2142,1740 -11.9 0 6 dbSNP_86 169 857,7743 196.3+/-241.3 45,767,3488 no coding-synonymous,coding-synonymous PRDM1 NM_001198.3,NM_182907.1 , 48,887,5568 AA,AG,GG 9.9651,2.8597,7.5581 , 714/826,580/692 106555025 983,12023 2203 4300 6503 SO:0001819 synonymous_variant CCDS5054.2, CCDS34505.1 6q21 2013-01-08 ENSG00000057657 ENSG00000057657 639 Zinc fingers, C2H2-type 9346 protein-coding gene gene with protein product 603423 BLIMP1 NA 1851123 Standard NM_001198 NA Approved PRDI-BF1 uc003prd.2 O75626 OTTHUMG00000015299 ENST00000369091.2:c.2034G>A chr6.hg19:g.106555025G>A NA B2REA6|E1P5E0|Q86WM7 hg19 0.02 23.659361 CCCxGCG COVERED NOVEL PRDM1-004 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000327265.1 2 28.562205 KEEP 0 2 66 118 4075 GG 1 1 0 + 16 60 600 0 0 35.685452 578 60 20126 899 ENST00000369091.2 0.026936 1 QRSL1 55278 __UNKNOWN__ __UNKNOWN__ 6 107115394 107115394 __UNKNOWN__ 3'UTR SNP A A G rs3101493 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:107115394A>G ENST00000369046.4 + 0 3208 NM_018292.4 NP_060762.3 glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1 NA NA endometrium(2)|kidney(1)|large_intestine(4)|lung(4) 11 Breast(9;0.0107)|all_epithelial(6;0.14) all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248) Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152) BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176) gttacttaataaattcacttt 0.294 NA A||| 1239 0.247404 0.2519 0.2795 5008 , , NA 19604 0.0575 NA 0.3827 False NA ,,, NA NA NA 2504 0.2751 NA NA NA NSCLC(192;2127 2142 11668 26277 49545) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK001851 CCDS5057.1 6q21 2014-08-04 ENSG00000130348 ENSG00000130348 55278 21020 protein-coding gene gene with protein product glutamyl-tRNA(Gln) amidotransferase, subunit A NA 11230166, 19805282 Standard NM_018292 NM_018292 NA Approved GatA, FLJ10989, FLJ12189, DKFZP564C1278, FLJ13447 uc003prm.3 Q9H0R6 OTTHUMG00000015301 ENST00000369046.4:c.*1517A>G chr6.hg19:g.107115394A>G NA hg19 CCDS5057.1 0.02 6.24097 AATxAAT COVERED NOVEL QRSL1-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041667.1 0 5.112917 KEEP 0 0 0 17 497 AA 0.999366 0.999366 0 + 7 60 260 0 0 16.409009 178 60 6355 216 ENST00000369046.4 0.037838 1 BEND3 57673 __UNKNOWN__ __UNKNOWN__ 6 107420516 107420516 __UNKNOWN__ Intron SNP A A C rs4946811 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:107420516A>C ENST00000369042.1 - 2 180 BEND3_ENST00000429433.2_Intron Q5T5X7 BEND3_HUMAN BEN domain containing 3 NA NA central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3) 30 TAAAAAGACAAAGACAATGTG 0.348 NA A||| 1797 0.358826 0.0628 0.5548 5008 , , NA 17414 0.4702 NA 0.4155 False NA ,,, NA NA NA 2504 0.4468 NA NA NA NA 0 A 481,3925 215.8+/-234.7 24,433,1746 88 95 93 5.4 1 6 dbSNP_111 93 3258,5340 485.2+/-371.6 641,1976,1682 no intron BEND3 NM_001080450.2 665,2409,3428 CC,CA,AA 37.8925,10.9169,28.7527 107420516 3739,9265 2203 4299 6502 SO:0001627 intron_variant AB046773 CCDS34507.1 6q21 2012-11-22 2008-10-03 2008-10-03 ENSG00000178409 ENSG00000178409 57673 BEN domain containing 23040 protein-coding gene gene with protein product KIAA1553 KIAA1553 NA Standard NM_020913 NM_001080450 NA Approved uc003prs.2 Q5T5X7 OTTHUMG00000015308 ENST00000369042.1:c.11-16T>G chr6.hg19:g.107420516A>C NA A2RRH2|Q9HCL9 hg19 CCDS34507.1 0.02 36.52197 ACAxAGA COVERED NOVEL BEND3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041686.1 2 22.264795 KEEP 0 0 0 74 2313 AA 1 1 0 - 21 60 783 0 1 45.565258 831 60 29925 1101 ENST00000369042.1 0.024648 1 OSTM1 28962 __UNKNOWN__ __UNKNOWN__ 6 108363627 108363627 __UNKNOWN__ 3'UTR SNP T T C rs201149316 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:108363627T>C ENST00000193322.3 - 0 3452 OSTM1_ENST00000492130.1_Intron NM_014028.3 NP_054747.2 Q86WC4 OSTM1_HUMAN osteopetrosis associated transmembrane protein 1 NA NA ion transmembrane transport (GO:0034220)|osteoclast differentiation (GO:0030316)|transmembrane transport (GO:0055085) cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634) central_nervous_system(2)|endometrium(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 8 all_cancers(87;3.82e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000195)|Colorectal(196;0.0293)|all_lung(197;0.0938) BRCA - Breast invasive adenocarcinoma(108;0.0131)|Epithelial(106;0.0438)|OV - Ovarian serous cystadenocarcinoma(136;0.0571)|all cancers(137;0.0581) tcttttttttttttttttttt 0.373 NA NA NA NA NA NA NA NA NA NA Melanoma(162;1427 1909 3096 17430 21396) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF533891 CCDS5062.1 6q21 2014-06-17 ENSG00000081087 ENSG00000081087 28962 21652 protein-coding gene gene with protein product CLCN7 accessory beta subunit 607649 NA 12627228, 21527911 Standard NM_014028 NM_014028 NA Approved HSPC019, GL uc003psd.3 Q86WC4 OTTHUMG00000015317 ENST00000193322.3:c.*2362A>G chr6.hg19:g.108363627T>C NA E1P5E3|Q5R391|Q6PCA7|Q7RTW6|Q8NC29|Q8TC82|Q9Y2S9 hg19 CCDS5062.1 0.02 4.988757 TTTxTTT COVERED NOVEL OSTM1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041709.3 16 27.684024 KEEP 2 0 0 92 2887 TT 1 0.999968 0 - 6 60 235 1 0 16.702435 87 60 3197 245 ENST00000193322.3 0.064516 0.999968 OSTM1 28962 __UNKNOWN__ __UNKNOWN__ 6 108364582 108364582 __UNKNOWN__ 3'UTR SNP T T C rs12567 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:108364582T>C ENST00000193322.3 - 0 2497 OSTM1_ENST00000492130.1_5'UTR NM_014028.3 NP_054747.2 Q86WC4 OSTM1_HUMAN osteopetrosis associated transmembrane protein 1 NA NA ion transmembrane transport (GO:0034220)|osteoclast differentiation (GO:0030316)|transmembrane transport (GO:0055085) cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634) central_nervous_system(2)|endometrium(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 8 all_cancers(87;3.82e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000195)|Colorectal(196;0.0293)|all_lung(197;0.0938) BRCA - Breast invasive adenocarcinoma(108;0.0131)|Epithelial(106;0.0438)|OV - Ovarian serous cystadenocarcinoma(136;0.0571)|all cancers(137;0.0581) AGCCTTATATTTCACTCCACA 0.353 NA T||| 1094 0.21845 0.2247 0.2565 5008 , , NA 17213 0.255 NA 0.2425 False NA ,,, NA NA NA 2504 0.1207 NA NA NA Melanoma(162;1427 1909 3096 17430 21396) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF533891 CCDS5062.1 6q21 2014-06-17 ENSG00000081087 ENSG00000081087 28962 21652 protein-coding gene gene with protein product CLCN7 accessory beta subunit 607649 NA 12627228, 21527911 Standard NM_014028 NM_014028 NA Approved HSPC019, GL uc003psd.3 Q86WC4 OTTHUMG00000015317 ENST00000193322.3:c.*1407A>G chr6.hg19:g.108364582T>C NA E1P5E3|Q5R391|Q6PCA7|Q7RTW6|Q8NC29|Q8TC82|Q9Y2S9 hg19 CCDS5062.1 0.02 4.691018 TATxTCA COVERED NOVEL OSTM1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041709.3 1 7.221848 KEEP 0 0 0 24 756 TT 0.999909 0.999909 0 - 7 60 275 0 0 18.887176 128 60 4583 210 ENST00000193322.3 0.051852 1 C6orf183 389422 __UNKNOWN__ __UNKNOWN__ 6 109591433 109591433 __UNKNOWN__ RNA SNP T T C rs9400262 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:109591433T>C ENST00000453496.2 + 0 1685 Q5T699 CF183_HUMAN chromosome 6 open reading frame 183 NA NA NA CACCAGCTAATGTCAGGCTGC 0.498 NA T||| 2005 0.400359 0.528 0.3242 5008 , , NA 16859 0.4643 NA 0.3648 False NA ,,, NA NA NA 2504 0.2526 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA 6q21 2013-11-06 2012-02-07 2012-02-07 ENSG00000243587 ENSG00000243587 389422 21562 other unknown NA Standard NA Approved bA487F23.3 Q5T699 OTTHUMG00000015337 ENST00000453496.2: chr6.hg19:g.109591433T>C NA hg19 0.02 1.637596 TAAxGTC COVERED NOVEL C6orf183-002 KNOWN basic processed_transcript NA polymorphic_pseudogene OTTHUMT00000257660.2 2 4.814244 KEEP 0 0 0 16 490 TT 0.997832 0.997771 0 + 4 60 146 0 0 9.272331 93 60 3388 130 ENST00000453496.2 0.041237 0.99994 SLC22A16 85413 __UNKNOWN__ __UNKNOWN__ 6 110746545 110746545 __UNKNOWN__ Intron SNP T T G rs9487402 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:110746545T>G ENST00000368919.3 - 8 1588 SLC22A16_ENST00000330550.4_Intron NM_033125.3 NP_149116.2 Q86VW1 S22AG_HUMAN solute carrier family 22 (organic cation/carnitine transporter), member 16 NA NA acid secretion (GO:0046717)|amine transport (GO:0015837)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|organic cation transport (GO:0015695)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) amine transmembrane transporter activity (GO:0005275)|carnitine transmembrane transporter activity (GO:0015226)|organic cation transmembrane transporter activity (GO:0015101) breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101) OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115) Doxorubicin(DB00997)|L-Carnitine(DB00583) AATTGCCAGCTACTGCCTGCA 0.463 NA T||| 1865 0.372404 0.4554 0.245 5008 , , NA 19700 0.503 NA 0.2127 False NA ,,, NA NA NA 2504 0.3804 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS5084.1 6q21 2013-05-22 2008-01-11 ENSG00000004809 ENSG00000004809 85413 Solute carriers 20302 protein-coding gene gene with protein product 608276 solute carrier family 22 (organic cation transporter), member 16 NA 12372408, 12089149, 17473959 Standard NM_033125 NM_033125 NA Approved FLIPT2, CT2, OKB1, OAT6 uc003puf.3 Q86VW1 OTTHUMG00000016171 ENST00000368919.3:c.1522-257A>C chr6.hg19:g.110746545T>G NA O14567|Q5JXM1|Q8IUG8|Q8IZD5|Q96M90|Q96RU0 hg19 CCDS5084.1 0.02 30.941871 AGCxACT COVERED NOVEL SLC22A16-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000043428.1 2 16.985622 KEEP 0 1 33 68 2138 TT 1 1 0 - 32 60 1175 0 0 76.001367 685 60 24937 957 ENST00000368919.3 0.04463 1 CDK19 23097 __UNKNOWN__ __UNKNOWN__ 6 111048947 111048947 __UNKNOWN__ Intron SNP A A G rs9386942|rs113471983 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:111048947A>G ENST00000368911.3 - 2 384 CDK19_ENST00000323817.3_Intron NM_015076.3 NP_055891.1 Q9BWU1 CDK19_HUMAN cyclin-dependent kinase 19 NA NA ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1) 22 aggccaaggcaggcagactgc 0.473 NA G||| 1510 0.301518 0.2837 0.1499 5008 , , NA 17134 0.3423 NA 0.2425 False NA ,,, NA NA NA 2504 0.4519 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL122055 CCDS5085.1, CCDS75503.1 6q21 2011-10-25 2009-12-16 2009-12-16 ENSG00000155111 ENSG00000155111 23097 Cyclin-dependent kinases 19338 protein-coding gene gene with protein product 614720 cyclin-dependent kinase (CDC2-like) 11, cell division cycle 2-like 6 (CDK8-like) CDK11, CDC2L6 NA 10470851, 19884882 Standard NM_015076 XM_005266871 NA Approved KIAA1028, bA346C16.3 uc003puh.1 Q9BWU1 OTTHUMG00000015365 ENST00000368911.3:c.204+18381T>C chr6.hg19:g.111048947A>G NA Q5JQZ7|Q5JR00|Q8TC78|Q9UPX2 hg19 CCDS5085.1 0.02 -0.078954 GGCxGGC UNCOVERED NOVEL CDK19-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041804.1 2 2.407465 KEEP 0 0 0 8 256 AA 0.99257 0.076761 0 - 4 60 130 0 0 12.22277 5 60 187 21 ENST00000368911.3 0.444444 0.077336 WISP3 8838 __UNKNOWN__ __UNKNOWN__ 6 112375307 112375307 __UNKNOWN__ 5'UTR SNP A A G rs3806964 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:112375307A>G ENST00000368666.2 + 0 33 WISP3_ENST00000604763.1_5'UTR|WISP3_ENST00000230529.5_5'UTR NM_198239.1 NP_937882.1 O95389 WISP3_HUMAN WNT1 inducible signaling pathway protein 3 NA NA cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165) extracellular space (GO:0005615) breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1) 13 all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246) GTGCTCGCCCATTCCTGACCT 0.512 NA G||| 1195 0.238618 0.2489 0.2277 5008 , , NA 19076 0.3452 NA 0.2326 False NA ,,, NA NA NA 2504 0.1288 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF100781 CCDS5097.1, CCDS5098.1 6q21 2014-05-06 ENSG00000112761 ENSG00000112761 8838 12771 protein-coding gene gene with protein product 603400 NA 9843955 Standard NM_003880 NM_003880 NA Approved CCN6 uc003pvo.3 O95389 OTTHUMG00000185101 ENST00000368666.2:c.-254A>G chr6.hg19:g.112375307A>G NA Q3KR29|Q5H8W4|Q6UXH6 hg19 CCDS5098.1 0.02 4.184674 CCCxTTC COVERED NOVEL WISP3-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041873.2 2 6.619902 KEEP 0 0 0 22 687 AA 0.999879 0.999874 0 + 5 60 172 0 0 10.702169 108 60 3983 172 ENST00000368666.2 0.044248 0.999995 TUBE1 51175 __UNKNOWN__ __UNKNOWN__ 6 112408610 112408610 __UNKNOWN__ Intron SNP T T C rs6568714 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:112408610T>C ENST00000368662.5 - 1 104 NM_016262.4 NP_057346.1 Q9UJT0 TBE_HUMAN tubulin, epsilon 1 NA NA centrosome cycle (GO:0007098)|protein polymerization (GO:0051258) microtubule (GO:0005874)|pericentriolar material (GO:0000242) GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200) cervix(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 12 all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1) all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246) Vinblastine(DB00570) CGGCGTAGCTTACCCTGTACG 0.647 NA C||| 1526 0.304712 0.4781 0.2392 5008 , , NA 16591 0.3472 NA 0.2465 False NA ,,, NA NA NA 2504 0.1329 NA NA NA NA 0 C 1687,2429 361,965,732 16 16 16 0.6 0.8 6 dbSNP_116 16 1885,6225 213,1459,2383 no intron TUBE1 NM_016262.4 574,2424,3115 CC,CT,TT 23.2429,40.9864,29.2164 112408610 3572,8654 2058 4055 6113 SO:0001627 intron_variant AF201334 CCDS5100.1 6q21 2005-11-03 ENSG00000074935 ENSG00000074935 51175 Tubulins 20775 protein-coding gene gene with protein product 607345 NA 10620804 Standard NM_016262 NM_016262 NA Approved dJ142L7.2, FLJ22589, TUBE uc003pvq.3 Q9UJT0 OTTHUMG00000015382 ENST00000368662.5:c.25+2A>G chr6.hg19:g.112408610T>C NA Q5H8W8|Q8NEG3 hg19 CCDS5100.1 0.02 9.239691 GCTxACC COVERED NOVEL TUBE1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041867.1 2 40.007748 KEEP 0 0 0 133 3931 TT 1 1 0 - 7 60 266 0 0 16.50409 211 60 7275 469 ENST00000368662.5 0.03211 1 LAMA4 3910 __UNKNOWN__ __UNKNOWN__ 6 112430180 112430180 __UNKNOWN__ 3'UTR SNP A A G rs12208872 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:112430180A>G ENST00000230538.7 - 0 6329 LAMA4_ENST00000522006.1_3'UTR|LAMA4_ENST00000389463.4_3'UTR NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 NA NA blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995) basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606) extracellular matrix structural constituent (GO:0005201) NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) CAAATCTATCATCTAATTTAG 0.264 NA A||| 1210 0.241613 0.239 0.2277 5008 , , NA 15479 0.3492 NA 0.2416 False NA ,,, NA NA NA 2504 0.1442 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS34514.1, CCDS43491.1, CCDS43492.1 6q21 2014-09-17 ENSG00000112769 ENSG00000112769 3910 Laminins 6484 protein-coding gene gene with protein product 600133 NA 7959779 Standard NM_001105206 NM_001105206 NA Approved LAMA3 uc003pvu.3 Q16363 OTTHUMG00000015386 ENST00000230538.7:c.*460T>C chr6.hg19:g.112430180A>G NA Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9 hg19 CCDS43491.1 0.02 8.38085 ATCxTCT COVERED NOVEL LAMA4-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000041876.2 3 16.851009 KEEP 0 0 0 56 1772 AA 1 1 0 - 10 60 344 0 0 21.920133 191 60 6974 318 ENST00000230538.7 0.049751 1 LAMA4 3910 __UNKNOWN__ __UNKNOWN__ 6 112430669 112430669 __UNKNOWN__ Missense_Mutation SNP C C T rs3734292 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:112430669C>T ENST00000230538.7 - 39 5840 c.5443G>A c.(5443-5445)Gta>Ata p.V1815I LAMA4_ENST00000424408.2_Missense_Mutation_p.V1808I|LAMA4_ENST00000522006.1_Missense_Mutation_p.V1808I|LAMA4_ENST00000389463.4_Missense_Mutation_p.V1808I NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 1815 Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}. NA V -> I (in dbSNP:rs3734292). blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995) basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606) extracellular matrix structural constituent (GO:0005201) NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) TTGATGCTTACGGCGCCGCTG 0.537 NA C||| 75 0.014976 0.0 0.0014 5008 , , NA 16808 0.0704 NA 0.0 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 C ILE/VAL,ILE/VAL,ILE/VAL 0,4406 0,0,2203 76 71 73 5443,5422,5422 6.2 1 6 dbSNP_107 73 2,8598 2.2+/-6.3 0,2,4298 yes missense,missense,missense LAMA4 NM_001105206.1,NM_001105207.1,NM_002290.3 29,29,29 0,2,6501 TT,TC,CC 0.0233,0.0,0.0154 probably-damaging,probably-damaging,probably-damaging 1815/1824,1808/1817,1808/1817 112430669 2,13004 2203 4300 6503 SO:0001583 missense CCDS34514.1, CCDS43491.1, CCDS43492.1 6q21 2014-09-17 ENSG00000112769 ENSG00000112769 3910 Laminins 6484 protein-coding gene gene with protein product 600133 NA 7959779 Standard NM_001105206 NM_001105206 NA Approved LAMA3 uc003pvu.3 Q16363 OTTHUMG00000015386 ENST00000230538.7:c.5443G>A chr6.hg19:g.112430669C>T ENSP00000230538:p.Val1815Ile NA Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9 hg19 CCDS43491.1 0.02 8.906914 TTAxGGC COVERED 44 0.020146520146520148 0 0.0 1 0.0027624309392265192 43 0.07517482517482517 0 0.0 C 27.7 4.855820 0.91355 0.0 2.33E-4 ENSG00000112769 ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408 T;T;T;T 0.81078 -1.45;-1.45;-1.45;-1.45 6.17 6.17 0.99709 Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1); 0.000000 0.85682 D 0.000000 D 0.87791 0.6266 M 0.63169 1.94 0.80722 D 1 D;D 0.76494 0.999;0.999 D;D 0.78314 0.979;0.991 D 0.86039 0.1518 10 0.54805 T 0.06 . 20.8794 0.99867 0.0:1.0:0.0:0.0 rs3734292;rs3734292 1815;1808 Q16363;Q16363-2 LAMA4_HUMAN;. I 1815;1808;1808;1808 ENSP00000230538:V1815I;ENSP00000429488:V1808I;ENSP00000374114:V1808I;ENSP00000416470:V1808I ENSP00000230538:V1815I V - 1 0 LAMA4 112537362 1.000000 0.71417 0.971000 0.41717 0.831000 0.47069 6.848000 0.75409 2.941000 0.99782 0.655000 0.94253 GTA NOVEL LAMA4-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000041876.2 1 19.862557 KEEP 0 0 0 66 2227 CC 1 1 0 - 12 60 451 0 0 30.298746 221 60 7527 336 ENST00000230538.7 0.051502 1 LAMA4 3910 __UNKNOWN__ __UNKNOWN__ 6 112435264 112435264 __UNKNOWN__ Intron SNP T T G rs3734290 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:112435264T>G ENST00000230538.7 - 38 5724 LAMA4_ENST00000424408.2_Intron|LAMA4_ENST00000522006.1_Intron|LAMA4_ENST00000389463.4_Intron NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 NA NA blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995) basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606) extracellular matrix structural constituent (GO:0005201) NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) CTTTTCCTTTTTAAACAACAC 0.398 NA T||| 1202 0.240016 0.239 0.2205 5008 , , NA 17817 0.3472 NA 0.2406 False NA ,,, NA NA NA 2504 0.1442 NA NA NA NA 0 T ,, 1018,3388 366.6+/-317.9 120,778,1305 81 80 81 ,, 3 0 6 dbSNP_107 81 2327,6273 380.3+/-339.6 301,1725,2274 no intron,intron,intron LAMA4 NM_001105206.1,NM_001105207.1,NM_002290.3 ,, 421,2503,3579 GG,GT,TT 27.0581,23.1049,25.7189 ,, ,, 112435264 3345,9661 2203 4300 6503 SO:0001627 intron_variant CCDS34514.1, CCDS43491.1, CCDS43492.1 6q21 2014-09-17 ENSG00000112769 ENSG00000112769 3910 Laminins 6484 protein-coding gene gene with protein product 600133 NA 7959779 Standard NM_001105206 NM_001105206 NA Approved LAMA3 uc003pvu.3 Q16363 OTTHUMG00000015386 ENST00000230538.7:c.5326+14A>C chr6.hg19:g.112435264T>G NA Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9 hg19 CCDS43491.1 0.02 15.766376 TTTxTAA COVERED NOVEL LAMA4-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000041876.2 0 25.870219 KEEP 0 0 0 86 2634 TT 1 1 0 - 12 60 425 0 0 25.29071 379 60 13663 578 ENST00000230538.7 0.030691 1 LAMA4 3910 __UNKNOWN__ __UNKNOWN__ 6 112435273 112435273 __UNKNOWN__ Intron SNP A A C rs3734289 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:112435273A>C ENST00000230538.7 - 38 5724 LAMA4_ENST00000424408.2_Intron|LAMA4_ENST00000522006.1_Intron|LAMA4_ENST00000389463.4_Intron NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 NA NA blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995) basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606) extracellular matrix structural constituent (GO:0005201) NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) TTTAAACAACACTTACCTGGA 0.408 NA A||| 1202 0.240016 0.239 0.2205 5008 , , NA 17637 0.3472 NA 0.2406 False NA ,,, NA NA NA 2504 0.1442 NA NA NA NA 0 A ,, 1021,3385 376.8+/-322.2 120,781,1302 94 92 92 ,, -4.1 0 6 dbSNP_107 92 2336,6264 390.9+/-343.5 301,1734,2265 no intron,intron,intron LAMA4 NM_001105206.1,NM_001105207.1,NM_002290.3 ,, 421,2515,3567 CC,CA,AA 27.1628,23.1729,25.8112 ,, ,, 112435273 3357,9649 2203 4300 6503 SO:0001627 intron_variant CCDS34514.1, CCDS43491.1, CCDS43492.1 6q21 2014-09-17 ENSG00000112769 ENSG00000112769 3910 Laminins 6484 protein-coding gene gene with protein product 600133 NA 7959779 Standard NM_001105206 NM_001105206 NA Approved LAMA3 uc003pvu.3 Q16363 OTTHUMG00000015386 ENST00000230538.7:c.5326+5T>G chr6.hg19:g.112435273A>C NA Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9 hg19 CCDS43491.1 0.02 17.028912 AACxCTT COVERED NOVEL LAMA4-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000041876.2 1 27.68272 KEEP 0 0 0 92 2864 AA 1 1 0 - 12 60 442 0 0 26.324212 404 60 14676 617 ENST00000230538.7 0.028846 1 LAMA4 3910 __UNKNOWN__ __UNKNOWN__ 6 112435912 112435912 __UNKNOWN__ Silent SNP A A T rs1050353 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:112435912A>T ENST00000230538.7 - 37 5557 c.5160T>A c.(5158-5160)gtT>gtA p.V1720V LAMA4_ENST00000424408.2_Silent_p.V1713V|LAMA4_ENST00000522006.1_Silent_p.V1713V|LAMA4_ENST00000389463.4_Silent_p.V1713V NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 1720 Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}. NA blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995) basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606) extracellular matrix structural constituent (GO:0005201) NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) GCTTGGGTGTAACTGAGGTGG 0.423 NA T||| 1411 0.281749 0.3419 0.2392 5008 , , NA 17779 0.3571 NA 0.2634 False NA ,,, NA NA NA 2504 0.1718 NA NA NA NA 0 T ,, 1477,2929 678.8+/-403.6 258,961,984 146 129 135 5160,5139,5139 -12.1 0.1 6 dbSNP_86 135 2489,6111 695.2+/-404.8 341,1807,2152 no coding-synonymous,coding-synonymous,coding-synonymous LAMA4 NM_001105206.1,NM_001105207.1,NM_002290.3 ,, 599,2768,3136 TT,TA,AA 28.9419,33.5225,30.4936 ,, 1720/1824,1713/1817,1713/1817 112435912 3966,9040 2203 4300 6503 SO:0001819 synonymous_variant CCDS34514.1, CCDS43491.1, CCDS43492.1 6q21 2014-09-17 ENSG00000112769 ENSG00000112769 3910 Laminins 6484 protein-coding gene gene with protein product 600133 NA 7959779 Standard NM_001105206 NM_001105206 NA Approved LAMA3 uc003pvu.3 Q16363 OTTHUMG00000015386 ENST00000230538.7:c.5160T>A chr6.hg19:g.112435912A>T NA Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9 hg19 CCDS43491.1 0.02 10.292998 TGTxACT COVERED NOVEL LAMA4-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000041876.2 1 22.865829 KEEP 0 0 0 76 2336 AA 1 1 0 - 8 60 287 0 0 16.768315 271 60 9689 441 ENST00000230538.7 0.028674 1 LAMA4 3910 __UNKNOWN__ __UNKNOWN__ 6 112471688 112471688 __UNKNOWN__ Intron SNP G G C rs3734286 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:112471688G>C ENST00000230538.7 - 17 2571 LAMA4_ENST00000424408.2_Intron|LAMA4_ENST00000522006.1_Intron|LAMA4_ENST00000389463.4_Intron NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 NA NA blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995) basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606) extracellular matrix structural constituent (GO:0005201) NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) CAACAGATGAGACTTCAATTC 0.393 NA G||| 1566 0.3127 0.4319 0.2392 5008 , , NA 19611 0.4196 NA 0.2575 False NA ,,, NA NA NA 2504 0.1503 NA NA NA NA 0 G ,, 1861,2545 539.3+/-375.2 401,1059,743 180 160 166 ,, 1.5 0 6 dbSNP_107 166 2405,6195 400.5+/-346.8 319,1767,2214 no intron,intron,intron LAMA4 NM_001105206.1,NM_001105207.1,NM_002290.3 ,, 720,2826,2957 CC,CG,GG 27.9651,42.2379,32.8002 ,, ,, 112471688 4266,8740 2203 4300 6503 SO:0001627 intron_variant CCDS34514.1, CCDS43491.1, CCDS43492.1 6q21 2014-09-17 ENSG00000112769 ENSG00000112769 3910 Laminins 6484 protein-coding gene gene with protein product 600133 NA 7959779 Standard NM_001105206 NM_001105206 NA Approved LAMA3 uc003pvu.3 Q16363 OTTHUMG00000015386 ENST00000230538.7:c.2173+24C>G chr6.hg19:g.112471688G>C NA Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9 hg19 CCDS43491.1 0.02 14.268988 TGAxACT COVERED NOVEL LAMA4-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000041876.2 0 25.583714 KEEP 0 0 0 85 3053 GG 1 1 0 - 14 60 537 0 0 35.1022 323 60 12386 548 ENST00000230538.7 0.041543 1 LAMA4 3910 __UNKNOWN__ __UNKNOWN__ 6 112476210 112476210 __UNKNOWN__ Intron SNP T T C rs2277084 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:112476210T>C ENST00000230538.7 - 16 2357 LAMA4_ENST00000424408.2_Intron|RP1-142L7.5_ENST00000425503.1_RNA|LAMA4_ENST00000522006.1_Intron|RP1-142L7.5_ENST00000585373.1_RNA|LAMA4_ENST00000389463.4_Intron|RP1-142L7.5_ENST00000588689.1_RNA NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 NA NA blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995) basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606) extracellular matrix structural constituent (GO:0005201) NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) CTATTCATAGTTGAAGGATTT 0.343 NA T||| 1566 0.3127 0.4183 0.2406 5008 , , NA 19275 0.4206 NA 0.2575 False NA ,,, NA NA NA 2504 0.1667 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS34514.1, CCDS43491.1, CCDS43492.1 6q21 2014-09-17 ENSG00000112769 ENSG00000112769 3910 Laminins 6484 protein-coding gene gene with protein product 600133 NA 7959779 Standard NM_001105206 NM_001105206 NA Approved LAMA3 uc003pvu.3 Q16363 OTTHUMG00000015386 ENST00000230538.7:c.1960-61A>G chr6.hg19:g.112476210T>C NA Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9 hg19 CCDS43491.1 0.02 4.103505 TAGxTGA COVERED NOVEL LAMA4-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000041876.2 1 3.911984 KEEP 0 0 0 13 421 TT 0.994391 0.994391 0 - 6 60 221 0 0 14.117375 139 60 4952 171 ENST00000230538.7 0.041379 1 HDAC2 3066 __UNKNOWN__ __UNKNOWN__ 6 114265587 114265587 __UNKNOWN__ Intron SNP T T C rs13204445 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:114265587T>C ENST00000519065.1 - 11 1468 HDAC2_ENST00000398283.2_Intron|HDAC2_ENST00000519108.1_Intron|HDAC2_ENST00000368632.2_Intron Q92769 HDAC2_HUMAN histone deacetylase 2 NA NA ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|cardiac muscle cell development (GO:0055013)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|dendrite development (GO:0016358)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|hair follicle placode formation (GO:0060789)|hippocampus development (GO:0021766)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|maintenance of chromatin silencing (GO:0006344)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell cycle (GO:0045786)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of neuron projection development (GO:0010977)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of proteolysis (GO:0045862)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein deacetylation (GO:0090311)|regulation of protein kinase B signaling (GO:0051896)|regulation of sarcomere organization (GO:0060297)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|replication fork (GO:0005657)|Sin3 complex (GO:0016580)|transcription factor complex (GO:0005667) chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|poly(A) RNA binding (GO:0044822)|protein deacetylase activity (GO:0033558)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134) biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2) 27 all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24) all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832) Aminophylline(DB01223)|Lovastatin(DB00227)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Valproic Acid(DB00313)|Vorinostat(DB02546) AAATTACACATGCAAAGTTTA 0.338 NA T||| 1090 0.217652 0.1051 0.1686 5008 , , NA 20544 0.2927 NA 0.2614 False NA ,,, NA NA NA 2504 0.2822 NA NA NA NA 0 T 527,3141 36,455,1343 64 56 58 -7.9 0 6 dbSNP_121 58 2183,5993 277,1629,2182 no intron HDAC2 NM_001527.3 313,2084,3525 CC,CT,TT 26.7001,14.3675,22.8808 114265587 2710,9134 1834 4088 5922 SO:0001627 intron_variant U31814 CCDS43493.1, CCDS43493.2 6q21 2008-08-29 ENSG00000196591 ENSG00000196591 3066 4853 protein-coding gene gene with protein product 605164 NA 9782097 Standard NM_001527 NA Approved RPD3, YAF1 uc003pwd.2 Q92769 OTTHUMG00000015411 ENST00000519065.1:c.1092-13A>G chr6.hg19:g.114265587T>C NA B3KRS5|B4DL58|E1P561|Q5SRI8|Q5SZ86|Q8NEH4 hg19 CCDS43493.2 0.02 10.494969 ACAxGCA COVERED NOVEL HDAC2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041909.2 2 17.452493 KEEP 0 0 0 58 1840 TT 1 1 0 - 9 60 321 0 0 19.141864 270 60 9833 390 ENST00000519065.1 0.032258 1 NT5DC1 221294 __UNKNOWN__ __UNKNOWN__ 6 116560351 116560351 __UNKNOWN__ Intron SNP C C A rs560446702 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:116560351C>A ENST00000319550.4 + 11 1334 NM_152729.2 NP_689942.2 Q5TFE4 NT5D1_HUMAN 5'-nucleotidase domain containing 1 NA NA hydrolase activity (GO:0016787)|metal ion binding (GO:0046872) large_intestine(2)|lung(2)|prostate(2)|skin(1)|stomach(1) 8 all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469) all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112) TACTAGAATTCTTGTCTTTAA 0.368 NA C||| 2 0.000399361 0.0 0.0 5008 , , NA 17653 0.002 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA Colon(128;1440 1664 38087 41475 42869) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC015138 CCDS5104.1 6q22.31 2008-02-05 2006-01-27 2006-01-27 ENSG00000178425 ENSG00000178425 221294 21556 protein-coding gene gene with protein product 5'-nucleotidase, cytosolic II-like 1 NT5C2L1 NA Standard NM_152729 NM_152729 NA Approved dJ486I3.1, MGC24302 uc003pwj.3 Q5TFE4 OTTHUMG00000015428 ENST00000319550.4:c.1252+65C>A chr6.hg19:g.116560351C>A NA B2RND9|B3KR35|Q6XYD5 hg19 CCDS5104.1 0.02 -0.324613 ATTxTTG COVERED NOVEL NT5DC1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041931.3 0 2.708851 KEEP 0 0 0 9 320 CC 0.99254 0.829482 0 + 3 60 110 0 0 7.947639 33 60 1247 50 ENST00000319550.4 0.083333 0.835716 DSE 29940 __UNKNOWN__ __UNKNOWN__ 6 116758932 116758932 __UNKNOWN__ 3'UTR SNP T T C rs1048386 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:116758932T>C ENST00000331677.3 + 0 3745 DSE_ENST00000359564.2_3'UTR|DSE_ENST00000452085.3_3'UTR|DSE_ENST00000537543.1_3'UTR Q9UL01 DSE_HUMAN dermatan sulfate epimerase NA NA carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281) endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021) chondroitin-glucuronate 5-epimerase activity (GO:0047757) NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234) Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262) CTGAGAAATATAAAAAAATTT 0.284 NA T||| 1411 0.281749 0.3563 0.33 5008 , , NA 14195 0.1498 NA 0.3042 False NA ,,, NA NA NA 2504 0.2597 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF098066 CCDS5107.1 6q22 2008-02-05 2007-01-29 2007-01-29 ENSG00000111817 ENSG00000111817 29940 5.1.3.19 21144 protein-coding gene gene with protein product 605942 squamous cell carcinoma antigen recognized by T cells 2 SART2 NA 11920522, 16505484 Standard NM_013352 NM_001080976 NA Approved DSEPI uc003pws.3 Q9UL01 OTTHUMG00000015434 ENST00000331677.3:c.*424T>C chr6.hg19:g.116758932T>C NA Q5R3K6 hg19 CCDS5107.1 0.02 4.508287 ATAxAAA COVERED NOVEL DSE-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041940.2 3 7.822473 KEEP 0 0 0 26 798 TT 0.999957 0.999957 0 + 6 60 223 0 0 14.566577 126 60 4639 199 ENST00000331677.3 0.045455 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 116774495 116774495 __UNKNOWN__ IGR SNP C C T rs77447280 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:116774495C>T NA NA RP1-93H18.7 (8472 upstream) : Z84488.1 (4399 downstream) NA NA NA TTTCTGAGAGCTAAGAAATGC 0.363 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.116774495C>T NA hg19 0.02 5.695008 GAGxTAA COVERED NOVEL 0 2 12.641325 KEEP 0 0 0 42 1526 CC 1 1 0 6 60 211 0 0 12.589869 171 60 6527 277 0.033898 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 116774503 116774503 __UNKNOWN__ IGR SNP T T C rs76073078 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:116774503T>C NA NA RP1-93H18.7 (8480 upstream) : Z84488.1 (4391 downstream) NA NA NA AGCTAAGAAATGCTTCAATCA 0.353 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.116774503T>C NA hg19 0.02 6.167213 AAAxGCT COVERED NOVEL 0 2 12.337333 KEEP 0 0 0 41 1286 TT 1 1 0 7 60 263 0 0 16.792581 173 60 6444 287 0.038889 1 RWDD1 51389 __UNKNOWN__ __UNKNOWN__ 6 116918800 116918800 __UNKNOWN__ 3'UTR SNP A A T rs77755282 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:116918800A>T ENST00000466444.2 + 0 5484 NM_015952.2 NP_057036.2 Q9H446 RWDD1_HUMAN RWD domain containing 1 NA NA NS(1)|breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1) 12 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.0312)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)|Epithelial(106;0.161) AAATTTTTTTAAAAAAACAGG 0.269 NA A||| 59 0.0117812 0.0 0.0173 5008 , , NA 11537 0.0466 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF092134 CCDS34520.1, CCDS43496.1 6q13-q22.33 2012-12-07 ENSG00000111832 ENSG00000111832 51389 20993 protein-coding gene gene with protein product NA 10810093 Standard NM_015952 NM_016104 NA Approved PTD013 uc003pxd.3 Q9H446 OTTHUMG00000015441 ENST00000466444.2:c.*4536A>T chr6.hg19:g.116918800A>T NA A8K3W2|A8MT24|Q9Y313|Q9Y6B3 hg19 CCDS34520.1 0.02 4.067332 TTTxAAA COVERED NOVEL RWDD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000041952.2 2 14.140317 KEEP 0 0 0 47 1421 AA 1 0.999997 0 + 5 60 182 0 0 11.656856 110 70 3977 205 ENST00000466444.2 0.043478 0.999997 MCM9 254394 __UNKNOWN__ __UNKNOWN__ 6 119177722 119177722 __UNKNOWN__ Intron SNP C C A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:119177722C>A ENST00000316316.6 - 8 1437 MCM9_ENST00000505485.1_Intron NM_017696.2 NP_060166.2 Q9NXL9 MCM9_HUMAN minichromosome maintenance complex component 9 NA NA cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292) MCM8-MCM9 complex (GO:0097362)|nucleus (GO:0005634) ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(87;0.122)|all_epithelial(87;0.179) GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194) AGGAAACAAGCAAGCCATATC 0.458 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC031658 CCDS5121.1, CCDS56447.1 6q22.31 2009-11-16 2007-04-04 2007-04-04 ENSG00000111877 ENSG00000111877 254394 21484 protein-coding gene gene with protein product 610098 minichromosome maintenance deficient domain containing 1, chromosome 6 open reading frame 61 MCMDC1, C6orf61 NA 16226853, 15850810, 16495042 Standard NM_153255 NM_153255 NA Approved MGC35304, dJ329L24.3, FLJ20170 uc021zeh.1 Q9NXL9 OTTHUMG00000015468 ENST00000316316.6:c.1151-14G>T chr6.hg19:g.119177722C>A NA B4DR30|B9DI77|Q2KHJ0|Q8N5S5|Q9HCV5 hg19 CCDS56447.1 0.02 1.469562 AAGxAAG COVERED NOVEL MCM9-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000042005.4 1 4.800697 KEEP 0 0 0 16 440 CC 0.997832 0.997824 0 - 13 60 202 1 0 9.495741 96 60 2827 157 ENST00000316316.6 0.119266 0.999993 ASF1A 25842 __UNKNOWN__ __UNKNOWN__ 6 119229840 119229840 __UNKNOWN__ 3'UTR SNP A A G rs9489539 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:119229840A>G ENST00000229595.5 + 0 1870 MCM9_ENST00000316316.6_Intron NM_014034.2 NP_054753.1 Q9Y294 ASF1A_HUMAN anti-silencing function 1A histone chaperone NA NA chromatin modification (GO:0016568)|DNA repair (GO:0006281)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|muscle cell differentiation (GO:0042692)|negative regulation of chromatin silencing (GO:0031936)|nucleosome assembly (GO:0006334)|osteoblast differentiation (GO:0001649)|transcription, DNA-templated (GO:0006351) nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234) chromatin binding (GO:0003682)|histone binding (GO:0042393) endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1) 5 all_cancers(87;0.122)|all_epithelial(87;0.179) GBM - Glioblastoma multiforme(226;0.0633)|OV - Ovarian serous cystadenocarcinoma(136;0.188) TTGAAAAGCAATCTTGGAAAG 0.343 NA A||| 490 0.0978435 0.0968 0.049 5008 , , NA 15335 0.2004 NA 0.0378 False NA ,,, NA NA NA 2504 0.09 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF279306 CCDS47469.1 6q22.31 2013-05-01 2013-05-01 ENSG00000111875 ENSG00000111875 25842 20995 protein-coding gene gene with protein product 609189 ASF1 anti-silencing function 1 homolog A (S. cerevisiae) NA 10810093, 11042152 Standard NM_014034 NM_014034 NA Approved DKFZP547E2110, CIA uc011ebn.2 Q9Y294 OTTHUMG00000015470 ENST00000229595.5:c.*1061A>G chr6.hg19:g.119229840A>G NA Q6IA08|Q9P014 hg19 CCDS47469.1 0.02 6.617071 GCAxTCT COVERED NOVEL ASF1A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000361910.1 2 11.733923 KEEP 0 0 0 39 1232 AA 1 1 0 + 10 60 377 0 0 25.255399 189 60 6855 275 ENST00000229595.5 0.050251 1 MCM9 254394 __UNKNOWN__ __UNKNOWN__ 6 119231968 119231968 __UNKNOWN__ Intron SNP T T C rs2295709 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:119231968T>C ENST00000316316.6 - 7 1437 MCM9_ENST00000316068.3_3'UTR NM_017696.2 NP_060166.2 Q9NXL9 MCM9_HUMAN minichromosome maintenance complex component 9 NA NA cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292) MCM8-MCM9 complex (GO:0097362)|nucleus (GO:0005634) ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(87;0.122)|all_epithelial(87;0.179) GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194) ACCTGAGACCTCCTTAACAGT 0.323 NA C||| 1327 0.264976 0.4531 0.1859 5008 , , NA 16641 0.2381 NA 0.2008 False NA ,,, NA NA NA 2504 0.1605 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC031658 CCDS5121.1, CCDS56447.1 6q22.31 2009-11-16 2007-04-04 2007-04-04 ENSG00000111877 ENSG00000111877 254394 21484 protein-coding gene gene with protein product 610098 minichromosome maintenance deficient domain containing 1, chromosome 6 open reading frame 61 MCMDC1, C6orf61 NA 16226853, 15850810, 16495042 Standard NM_153255 NM_153255 NA Approved MGC35304, dJ329L24.3, FLJ20170 uc021zeh.1 Q9NXL9 OTTHUMG00000015468 ENST00000316316.6:c.1150+846A>G chr6.hg19:g.119231968T>C NA B4DR30|B9DI77|Q2KHJ0|Q8N5S5|Q9HCV5 hg19 CCDS56447.1 0.02 7.604977 ACCxCCT COVERED NOVEL MCM9-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000042005.4 0 10.769068 KEEP 0 1 38 49 1577 TT 1 1 0 - 7 60 248 0 0 14.820958 203 60 7425 318 ENST00000316316.6 0.033333 1 MCM9 254394 __UNKNOWN__ __UNKNOWN__ 6 119232497 119232497 __UNKNOWN__ Intron SNP T T C rs72966851 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:119232497T>C ENST00000316316.6 - 7 1437 MCM9_ENST00000316068.3_3'UTR NM_017696.2 NP_060166.2 Q9NXL9 MCM9_HUMAN minichromosome maintenance complex component 9 NA NA cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292) MCM8-MCM9 complex (GO:0097362)|nucleus (GO:0005634) ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(87;0.122)|all_epithelial(87;0.179) GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194) CCCTCTTTAGTTTAACATTCC 0.363 NA T||| 491 0.0980431 0.0968 0.049 5008 , , NA 16133 0.2014 NA 0.0378 False NA ,,, NA NA NA 2504 0.09 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC031658 CCDS5121.1, CCDS56447.1 6q22.31 2009-11-16 2007-04-04 2007-04-04 ENSG00000111877 ENSG00000111877 254394 21484 protein-coding gene gene with protein product 610098 minichromosome maintenance deficient domain containing 1, chromosome 6 open reading frame 61 MCMDC1, C6orf61 NA 16226853, 15850810, 16495042 Standard NM_153255 NM_153255 NA Approved MGC35304, dJ329L24.3, FLJ20170 uc021zeh.1 Q9NXL9 OTTHUMG00000015468 ENST00000316316.6:c.1150+317A>G chr6.hg19:g.119232497T>C NA B4DR30|B9DI77|Q2KHJ0|Q8N5S5|Q9HCV5 hg19 CCDS56447.1 0.02 10.788599 TAGxTTA COVERED NOVEL MCM9-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000042005.4 1 17.151383 KEEP 0 0 0 57 1838 TT 1 1 0 - 10 60 374 0 0 23.636095 258 60 9249 389 ENST00000316316.6 0.037313 1 MCM9 254394 __UNKNOWN__ __UNKNOWN__ 6 119245024 119245024 __UNKNOWN__ Silent SNP C C T rs12197931 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:119245024C>T ENST00000316316.6 - 3 859 c.573G>A c.(571-573)tcG>tcA p.S191S MCM9_ENST00000316068.3_Silent_p.S191S NM_017696.2 NP_060166.2 Q9NXL9 MCM9_HUMAN minichromosome maintenance complex component 9 191 NA cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292) MCM8-MCM9 complex (GO:0097362)|nucleus (GO:0005634) ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(87;0.122)|all_epithelial(87;0.179) GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194) TGGTTGGAGACGAAGACAAGC 0.418 NA C||| 491 0.0980431 0.0968 0.049 5008 , , NA 20322 0.2014 NA 0.0378 False NA ,,, NA NA NA 2504 0.09 NA NA NA NA 0 C , 350,4056 181.2+/-209.3 15,320,1868 84 81 82 573,573 -1.9 1 6 dbSNP_120 82 376,8224 122.9+/-181.8 6,364,3930 no coding-synonymous,coding-synonymous MCM9 NM_017696.2,NM_153255.4 , 21,684,5798 TT,TC,CC 4.3721,7.9437,5.582 , 191/1144,191/392 119245024 726,12280 2203 4300 6503 SO:0001819 synonymous_variant BC031658 CCDS5121.1, CCDS56447.1 6q22.31 2009-11-16 2007-04-04 2007-04-04 ENSG00000111877 ENSG00000111877 254394 21484 protein-coding gene gene with protein product 610098 minichromosome maintenance deficient domain containing 1, chromosome 6 open reading frame 61 MCMDC1, C6orf61 NA 16226853, 15850810, 16495042 Standard NM_153255 NM_153255 NA Approved MGC35304, dJ329L24.3, FLJ20170 uc021zeh.1 Q9NXL9 OTTHUMG00000015468 ENST00000316316.6:c.573G>A chr6.hg19:g.119245024C>T NA B4DR30|B9DI77|Q2KHJ0|Q8N5S5|Q9HCV5 hg19 CCDS56447.1 0.02 7.959413 AGAxGAA COVERED NOVEL MCM9-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000042005.4 0 13.844941 KEEP 0 0 0 46 1605 CC 1 1 0 - 12 60 412 0 0 26.131162 238 60 8669 354 ENST00000316316.6 0.048 1 PKIB 5570 __UNKNOWN__ __UNKNOWN__ 6 123046832 123046832 __UNKNOWN__ 3'UTR SNP G G A rs1132630 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:123046832G>A ENST00000368448.1 + 0 1356 PKIB_ENST00000368452.2_3'UTR|PKIB_ENST00000392490.1_3'UTR|PKIB_ENST00000354275.2_3'UTR|PKIB_ENST00000258014.3_3'UTR|PKIB_ENST00000392491.2_3'UTR Q9C010 IPKB_HUMAN protein kinase (cAMP-dependent, catalytic) inhibitor beta NA NA cAMP-dependent protein kinase inhibitor activity (GO:0004862) large_intestine(3)|lung(1) 4 GBM - Glioblastoma multiforme(226;0.164) TGCCAAAAATGCCCCAGACTT 0.313 NA G||| 2810 0.561102 0.5825 0.5605 5008 , , NA 16609 0.6518 NA 0.3201 False NA ,,, NA NA NA 2504 0.6871 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS5126.1, CCDS59033.1 6q21-q22.1 2008-05-27 ENSG00000135549 ENSG00000135549 5570 9018 protein-coding gene gene with protein product 606914 PRKACN2 NA 10880337 Standard NM_181795 NA Approved uc003pzc.4 Q9C010 OTTHUMG00000015488 ENST00000368448.1:c.*492G>A chr6.hg19:g.123046832G>A NA B2RCK2|Q567T9|Q5T0Z7 hg19 CCDS5126.1 0.02 7.522311 AATxCCC COVERED NOVEL PKIB-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000042035.1 5 8.125817 KEEP 0 0 0 27 940 GG 0.999988 0.999988 0 + 8 60 267 0 0 15.788245 201 60 7582 272 ENST00000368448.1 0.038278 1 TRDN 10345 __UNKNOWN__ __UNKNOWN__ 6 123537837 123537837 __UNKNOWN__ 3'UTR SNP A A G rs7743126 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:123537837A>G ENST00000334268.4 - 0 4392 TRDN_ENST00000398178.3_3'UTR Q13061 TRDN_HUMAN triadin NA NA cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085) calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017) ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803) NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 41 GBM - Glioblastoma multiforme(226;0.184) gtttgtccctatatccctatt 0.259 NA A||| 2424 0.484026 0.6528 0.5908 5008 , , NA 12926 0.371 NA 0.4414 False NA ,,, NA NA NA 2504 0.3405 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U18985 CCDS59035.1, CCDS75511.1 6q22.31 2008-05-15 ENSG00000186439 ENSG00000186439 10345 12261 protein-coding gene gene with protein product 603283 NA 7588753 Standard NM_001251987 NA Approved uc003pzj.2 Q13061 OTTHUMG00000015497 ENST00000334268.4:c.*1909T>C chr6.hg19:g.123537837A>G NA A5D6W5|F5H2W7|Q6NSB8 hg19 0.02 2.187729 CCTxTAT COVERED NOVEL TRDN-001 KNOWN basic protein_coding NA protein_coding OTTHUMT00000042050.1 0 2.708456 KEEP 0 0 0 9 290 AA 0.99254 0.97463 0 - 5 60 181 0 0 13.129629 52 60 1857 72 ENST00000334268.4 0.087719 0.981955 TRDN 10345 __UNKNOWN__ __UNKNOWN__ 6 123539609 123539609 __UNKNOWN__ 3'UTR SNP C C T rs361509 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:123539609C>T ENST00000334268.4 - 0 2620 TRDN_ENST00000398178.3_3'UTR Q13061 TRDN_HUMAN triadin NA NA cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085) calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017) ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803) NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 41 GBM - Glioblastoma multiforme(226;0.184) CCACCCTTTCCGTCCACACCA 0.433 NA C||| 1882 0.375799 0.3555 0.5677 5008 , , NA 18338 0.3304 NA 0.4364 False NA ,,, NA NA NA 2504 0.2515 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U18985 CCDS59035.1, CCDS75511.1 6q22.31 2008-05-15 ENSG00000186439 ENSG00000186439 10345 12261 protein-coding gene gene with protein product 603283 NA 7588753 Standard NM_001251987 NA Approved uc003pzj.2 Q13061 OTTHUMG00000015497 ENST00000334268.4:c.*137G>A chr6.hg19:g.123539609C>T NA A5D6W5|F5H2W7|Q6NSB8 hg19 0.02 6.526025 TTCxGTC COVERED NOVEL TRDN-001 KNOWN basic protein_coding NA protein_coding OTTHUMT00000042050.1 2 3.00945 KEEP 0 0 0 10 328 CC 0.992708 0.992708 0 - 8 60 299 0 0 19.20674 188 60 6620 213 ENST00000334268.4 0.040816 1 TRDN 10345 __UNKNOWN__ __UNKNOWN__ 6 123539685 123539685 __UNKNOWN__ 3'UTR SNP T T C rs1259|rs386705430 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:123539685T>C ENST00000334268.4 - 0 2544 TRDN_ENST00000398178.3_3'UTR Q13061 TRDN_HUMAN triadin NA NA cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085) calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017) ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803) NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 41 GBM - Glioblastoma multiforme(226;0.184) CCTGAACTACTGTGGACAAAA 0.403 NA T||| 2330 0.465256 0.5855 0.5836 5008 , , NA 20280 0.371 NA 0.4414 False NA ,,, NA NA NA 2504 0.3405 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U18985 CCDS59035.1, CCDS75511.1 6q22.31 2008-05-15 ENSG00000186439 ENSG00000186439 10345 12261 protein-coding gene gene with protein product 603283 NA 7588753 Standard NM_001251987 NA Approved uc003pzj.2 Q13061 OTTHUMG00000015497 ENST00000334268.4:c.*61A>G chr6.hg19:g.123539685T>C NA A5D6W5|F5H2W7|Q6NSB8 hg19 0.02 19.608494 TACxGTG COVERED NOVEL TRDN-001 KNOWN basic protein_coding NA protein_coding OTTHUMT00000042050.1 5 13.838633 KEEP 0 0 0 46 1421 TT 1 1 0 - 14 60 515 0 0 31.082878 438 60 16153 600 ENST00000334268.4 0.030973 1 RNF217 154214 __UNKNOWN__ __UNKNOWN__ 6 125405206 125405206 __UNKNOWN__ 3'UTR SNP C C A rs4587189 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:125405206C>A ENST00000521654.2 + 0 2752 Q8TC41 RN217_HUMAN ring finger protein 217 NA NA protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787) integral component of membrane (GO:0016021) ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1) 11 LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828) GBM - Glioblastoma multiforme(226;0.0162) CAAGGTCTTACATCATTTAAT 0.299 NA C||| 1162 0.232029 0.1104 0.255 5008 , , NA 16430 0.1696 NA 0.4404 False NA ,,, NA NA NA 2504 0.2301 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC026087 CCDS5129.1, CCDS69191.1 6q22.33 2014-07-15 2007-08-20 2007-08-20 ENSG00000146373 ENSG00000146373 154214 RING-type (C3HC4) zinc fingers 21487 protein-coding gene gene with protein product chromosome 6 open reading frame 172, IBR domain containing 1 C6orf172, IBRDC1 NA Standard NM_152553 NM_001286398 NA Approved MGC26996, dJ84N20.1 uc003pzs.3 Q8TC41 OTTHUMG00000015504 ENST00000521654.2:c.*1123C>A chr6.hg19:g.125405206C>A NA H7C5V4|Q5TCA4|Q9BX48 hg19 0.02 6.244278 TTAxATC COVERED NOVEL RNF217-002 NOVEL basic|appris_principal protein_coding NA protein_coding OTTHUMT00000042063.3 0 5.085765 KEEP 0 2 60 38 1343 CC 1 1 0 + 8 60 292 0 0 18.507597 188 60 7123 277 ENST00000521654.2 0.040816 1 RNF217 154214 __UNKNOWN__ __UNKNOWN__ 6 125407465 125407465 __UNKNOWN__ 3'UTR SNP A A G rs35248447 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:125407465A>G ENST00000521654.2 + 0 5011 Q8TC41 RN217_HUMAN ring finger protein 217 NA NA protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787) integral component of membrane (GO:0016021) ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1) 11 LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828) GBM - Glioblastoma multiforme(226;0.0162) attttttttcaataaaaataa 0.284 NA A||| 1381 0.275759 0.171 0.2839 5008 , , NA 15935 0.1746 NA 0.4821 False NA ,,, NA NA NA 2504 0.3037 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC026087 CCDS5129.1, CCDS69191.1 6q22.33 2014-07-15 2007-08-20 2007-08-20 ENSG00000146373 ENSG00000146373 154214 RING-type (C3HC4) zinc fingers 21487 protein-coding gene gene with protein product chromosome 6 open reading frame 172, IBR domain containing 1 C6orf172, IBRDC1 NA Standard NM_152553 NM_001286398 NA Approved MGC26996, dJ84N20.1 uc003pzs.3 Q8TC41 OTTHUMG00000015504 ENST00000521654.2:c.*3382A>G chr6.hg19:g.125407465A>G NA H7C5V4|Q5TCA4|Q9BX48 hg19 0.02 3.587256 TTCxATA COVERED NOVEL RNF217-002 NOVEL basic|appris_principal protein_coding NA protein_coding OTTHUMT00000042063.3 1 9.326731 KEEP 0 0 0 31 944 AA 0.999997 0.999997 0 + 6 60 186 0 0 10.638963 141 60 5150 201 ENST00000521654.2 0.040816 1 PRELID1P1 728666 __UNKNOWN__ __UNKNOWN__ 6 126964675 126964675 __UNKNOWN__ RNA SNP G G A rs4626447 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:126964675G>A ENST00000567272.1 + 0 42 PRELI domain containing 1 pseudogene 1 NA NA NA ACTGAGCTACGAGCCTGGCGG 0.687 NA G||| 2803 0.559704 0.1596 0.6729 5008 , , NA 9619 0.9722 NA 0.4821 False NA ,,, NA NA NA 2504 0.6748 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA 6q22.32 2012-04-23 ENSG00000217325 ENSG00000217325 728666 43886 pseudogene pseudogene NA Standard NG_022903 NG_022903 NA Approved OTTHUMG00000015520 ENST00000567272.1: chr6.hg19:g.126964675G>A NA hg19 0.02 -0.385877 TACxAGC COVERED NOVEL PRELID1P1-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000436205.1 0 4.815023 KEEP 0 0 0 16 531 GG 0.997832 0.91618 0 + 3 60 105 0 0 7.177235 41 60 1344 70 ENST00000567272.1 0.068182 0.918171 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 127678404 127678404 __UNKNOWN__ IGR SNP C C T rs2073298 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:127678404C>T NA NA ECHDC1 (13650 upstream) : SOGA3 (81146 downstream) NA NA NA CCATGGATACCACGTGTTAAA 0.423 NA C||| 1210 0.241613 0.2579 0.2896 5008 , , NA 19200 0.5883 NA 0.0398 False NA ,,, NA NA NA 2504 0.0358 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.127678404C>T NA hg19 0.02 1.698666 TACxACG COVERED NOVEL 0 0 2.407763 KEEP 0 0 0 8 276 CC 0.99257 0.992407 0 5 60 184 0 0 12.401551 85 60 3174 115 0.055556 0.999835 KIAA0408 9729 __UNKNOWN__ __UNKNOWN__ 6 127768472 127768472 __UNKNOWN__ Missense_Mutation SNP G G A rs2236026 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:127768472G>A ENST00000483725.3 - 5 1328 c.992C>T c.(991-993)tCg>tTg p.S331L SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR NM_014702.4 NP_055517.3 Q6ZU52 K0408_HUMAN KIAA0408 331 NA S -> L (in dbSNP:rs2236026). endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1) 28 GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13) ACCATCTTTCGAAGTTTTCCC 0.418 NA g||| 1094 0.21845 0.0227 0.304 5008 , , NA 20780 0.6835 NA 0.0855 False NA ,,, NA NA NA 2504 0.0798 NA NA NA NA 0 G ,LEU/SER 135,4271 96.7+/-135.4 1,133,2069 124 119 120 ,992 1.3 0.9 6 dbSNP_98 120 660,7940 167.5+/-219.3 30,600,3670 yes utr-3,missense KIAA0408,C6orf174 NM_001012279.2,NM_014702.4 ,145 31,733,5739 AA,AG,GG 7.6744,3.064,6.1126 ,benign ,331/695 127768472 795,12211 2203 4300 6503 SO:0001583 missense AB007868 CCDS34531.1 6q22.33 2012-11-29 ENSG00000189367 ENSG00000189367 9729 21636 protein-coding gene gene with protein product NA Standard NM_014702 NM_014702 NA Approved uc011ebs.2 Q6ZU52 OTTHUMG00000166439 ENST00000483725.3:c.992C>T chr6.hg19:g.127768472G>A ENSP00000435150:p.Ser331Leu NA B3KRE5|E1P573|O43158|Q5TF20|Q7L2M2 hg19 CCDS34531.1 0.02 11.424128 TTCxAAG COVERED 542 0.24816849816849818 14 0.028455284552845527 85 0.23480662983425415 384 0.6713286713286714 59 0.07783641160949868 g 0.007 -1.937173 0.00484 0.03064 0.076744 ENSG00000189367 ENST00000483725 T 0.25749 1.78 5.23 1.28 0.21552 . 0.670270 0.11331 N 0.575017 T 0.01092 0.0036 N 0.00182 -1.905 0.51012 P 9.199999999998099E-5 B 0.02656 0.0 B 0.01281 0.0 T 0.47058 -0.9146 9 0.06099 T 0.92 4.0E-4 5.3764 0.16168 0.5996:0.2392:0.1613:0.0 rs2236026;rs52805967;rs57655122;rs2236026 331 Q6ZU52 K0408_HUMAN L 331 ENSP00000435150:S331L ENSP00000435150:S331L S - 2 0 KIAA0408 127810165 0.979000 0.34478 0.905000 0.35620 0.039000 0.13416 1.004000 0.29822 0.309000 0.22966 -0.285000 0.09966 TCG NOVEL KIAA0408-003 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000042145.3 5 6.454034 KEEP 0 1 27 31 1036 GG 0.999997 0.999997 0 - 11 60 366 0 0 21.00996 332 60 11877 409 ENST00000483725.3 0.03207 1 KIAA0408 9729 __UNKNOWN__ __UNKNOWN__ 6 127775166 127775166 __UNKNOWN__ 5'UTR SNP T T C rs9375513 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:127775166T>C ENST00000483725.3 - 0 297 SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000368268.2_3'UTR|SOGA3_ENST00000474293.2_5'UTR|SOGA3_ENST00000481848.2_3'UTR NM_014702.4 NP_055517.3 Q6ZU52 K0408_HUMAN KIAA0408 NA NA endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1) 28 GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13) GTTTCTGCTCTTCTCTGCCTC 0.388 NA C||| 1103 0.220248 0.0272 0.304 5008 , , NA 19591 0.6855 NA 0.0855 False NA ,,, NA NA NA 2504 0.0808 NA NA NA NA 0 C , 141,4265 810.6+/-416.0 1,139,2063 128 122 124 , -3.5 0 6 dbSNP_119 124 651,7949 784.8+/-407.6 30,591,3679 no utr-3,utr-5 KIAA0408,C6orf174 NM_001012279.2,NM_014702.4 , 31,730,5742 CC,CT,TT 7.5698,3.2002,6.0895 , , 127775166 792,12214 2203 4300 6503 SO:0001623 5_prime_UTR_variant AB007868 CCDS34531.1 6q22.33 2012-11-29 ENSG00000189367 ENSG00000189367 9729 21636 protein-coding gene gene with protein product NA Standard NM_014702 NM_014702 NA Approved uc011ebs.2 Q6ZU52 OTTHUMG00000166439 ENST00000483725.3:c.-40A>G chr6.hg19:g.127775166T>C NA B3KRE5|E1P573|O43158|Q5TF20|Q7L2M2 hg19 CCDS34531.1 0.02 25.321264 CTCxTCT COVERED NOVEL KIAA0408-003 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000042145.3 1 20.971389 KEEP 0 3 110 108 3479 TT 1 1 0 - 21 60 796 0 0 50.498518 554 60 20381 832 ENST00000483725.3 0.036522 1 SOGA3 387104 __UNKNOWN__ __UNKNOWN__ 6 127797179 127797179 __UNKNOWN__ Silent SNP G G A rs3734448 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:127797179G>A ENST00000525778.1 - 6 2737 c.1992C>T c.(1990-1992)gcC>gcT p.A664A SOGA3_ENST00000556132.1_Silent_p.A664A|SOGA3_ENST00000368268.2_Silent_p.A664A|SOGA3_ENST00000465909.2_Silent_p.A664A|SOGA3_ENST00000481848.2_Silent_p.A664A Q5TF21 SOGA3_HUMAN SOGA family member 3 664 NA regulation of autophagy (GO:0010506) extracellular space (GO:0005615)|integral component of membrane (GO:0016021) NA CCTCCAGGTCGGCCACGTTCC 0.642 NA G||| 1875 0.374401 0.2035 0.4467 5008 , , NA 17874 0.7351 NA 0.2406 False NA ,,, NA NA NA 2504 0.32 NA NA NA NA 0 G 931,3445 314.4+/-293.6 115,701,1372 55 60 58 1992 -3.4 1 6 dbSNP_107 58 2110,6462 351.3+/-328.2 278,1554,2454 no coding-synonymous C6orf174 NM_001012279.2 393,2255,3826 AA,AG,GG 24.615,21.2751,23.4863 664/948 127797179 3041,9907 2188 4286 6474 SO:0001819 synonymous_variant AK096490 CCDS43505.1 6q22.33 2013-03-28 2012-02-27 2012-02-27 ENSG00000214338 ENSG00000214338 387104 21494 protein-coding gene gene with protein product chromosome 6 open reading frame 174 C6orf174 NA Standard NM_001012279 NM_001012279 NA Approved dJ403A15.3 uc003qbd.3 Q5TF21 OTTHUMG00000166438 ENST00000525778.1:c.1992C>T chr6.hg19:g.127797179G>A NA hg19 CCDS43505.1 0.02 13.896409 GTCxGCC COVERED NOVEL SOGA3-001 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000388246.1 3 30.241287 KEEP 0 2 61 122 4093 GG 1 1 0 - 15 60 572 1 0 37.786269 319 60 10975 550 ENST00000525778.1 0.04491 1 SOGA3 387104 __UNKNOWN__ __UNKNOWN__ 6 127797374 127797374 __UNKNOWN__ Silent SNP G G A rs3734450 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:127797374G>A ENST00000525778.1 - 6 2542 c.1797C>T c.(1795-1797)aaC>aaT p.N599N SOGA3_ENST00000556132.1_Silent_p.N599N|SOGA3_ENST00000368268.2_Silent_p.N599N|SOGA3_ENST00000465909.2_Silent_p.N599N|SOGA3_ENST00000481848.2_Silent_p.N599N Q5TF21 SOGA3_HUMAN SOGA family member 3 599 NA regulation of autophagy (GO:0010506) extracellular space (GO:0005615)|integral component of membrane (GO:0016021) NA TGCCCAGGATGTTGGCTTCTT 0.597 NA G||| 1753 0.35004 0.1309 0.4424 5008 , , NA 19251 0.7371 NA 0.2416 False NA ,,, NA NA NA 2504 0.2935 NA NA NA NA 0 G 560,3716 36,488,1614 140 149 146 1797 4.6 1 6 dbSNP_107 146 2044,6460 257,1530,2465 no coding-synonymous C6orf174 NM_001012279.2 293,2018,4079 AA,AG,GG 24.0357,13.0964,20.3756 599/948 127797374 2604,10176 2138 4252 6390 SO:0001819 synonymous_variant AK096490 CCDS43505.1 6q22.33 2013-03-28 2012-02-27 2012-02-27 ENSG00000214338 ENSG00000214338 387104 21494 protein-coding gene gene with protein product chromosome 6 open reading frame 174 C6orf174 NA Standard NM_001012279 NM_001012279 NA Approved dJ403A15.3 uc003qbd.3 Q5TF21 OTTHUMG00000166438 ENST00000525778.1:c.1797C>T chr6.hg19:g.127797374G>A NA hg19 CCDS43505.1 0.02 21.091111 GATxTTG COVERED NOVEL SOGA3-001 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000388246.1 3 11.974195 KEEP 0 4 120 82 2862 GG 1 1 0 - 26 60 925 0 0 59.536278 520 60 19576 766 ENST00000525778.1 0.047619 1 PTPRK 5796 __UNKNOWN__ __UNKNOWN__ 6 128312033 128312033 __UNKNOWN__ Intron SNP A A G rs12055782 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:128312033A>G ENST00000368213.5 - 22 3222 PTPRK_ENST00000368207.3_Intron|PTPRK_ENST00000532331.1_Intron|PTPRK_ENST00000368215.3_Intron|PTPRK_ENST00000368210.3_Intron|PTPRK_ENST00000368227.3_Intron|PTPRK_ENST00000368226.4_Intron NM_001135648.1 NP_001129120.1 Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K NA NA cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179) axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750) beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001) PTPRK/RSPO3(10) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) CATTTAACCTAAGTGACAAAA 0.323 NA A||| 1318 0.263179 0.0416 0.3775 5008 , , NA 14602 0.4454 NA 0.2903 False NA ,,, NA NA NA 2504 0.2658 NA NA NA NA 0 A , 419,3985 201.5+/-224.5 21,377,1804 104 102 103 , 1.8 0.8 6 dbSNP_120 103 2443,6153 402.5+/-347.5 358,1727,2213 no intron,intron PTPRK NM_001135648.1,NM_002844.3 , 379,2104,4017 GG,GA,AA 28.4202,9.5141,22.0154 , , 128312033 2862,10138 2202 4298 6500 SO:0001627 intron_variant L77886 CCDS5137.1, CCDS47473.1, CCDS75517.1 6q22.2-q22.3 2013-02-11 ENSG00000152894 ENSG00000152894 5796 Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing 9674 protein-coding gene gene with protein product 602545 NA 9047348, 8663237 Standard NM_002844 NA Approved R-PTP-kappa uc010kfc.3 Q15262 OTTHUMG00000015536 ENST00000368213.5:c.2998-3T>C chr6.hg19:g.128312033A>G NA B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11 hg19 CCDS47473.1 0.02 14.937593 CCTxAGT COVERED NOVEL PTPRK-019 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000390044.2 1 16.244388 KEEP 0 0 0 54 1626 AA 1 1 0 - 10 60 372 0 0 22.248159 341 60 12222 495 ENST00000368213.5 0.02849 1 LAMA2 3908 __UNKNOWN__ __UNKNOWN__ 6 129582079 129582079 __UNKNOWN__ Intron SNP G G T rs737515 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:129582079G>T ENST00000421865.2 + 15 2257 NM_000426.3|NM_001079823.1 NP_000417|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 NA NA axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995) basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383) structural molecule activity (GO:0005198) NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) CACAAATAATGTGTATCACTT 0.294 NA G||| 365 0.0728834 0.0189 0.1081 5008 , , NA 18291 0.1567 NA 0.0219 False NA ,,, NA NA NA 2504 0.0869 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Z26653 CCDS5138.1 6q22-q23 2014-09-17 2008-08-01 ENSG00000196569 ENSG00000196569 3908 Laminins 6482 protein-coding gene gene with protein product merosin, congenital muscular dystrophy 156225 LAMM NA 2185464, 8294519 Standard NM_000426 NA Approved uc003qbn.3 P24043 OTTHUMG00000015545 ENST00000421865.2:c.2208+112G>T chr6.hg19:g.129582079G>T NA Q14736|Q5VUM2|Q93022 hg19 CCDS5138.1 0.02 1.798455 AATxTGT COVERED NOVEL LAMA2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000042180.1 0 6.921916 KEEP 0 0 0 23 780 GG 0.999892 0.999727 0 + 4 60 144 0 0 9.224663 85 60 3104 117 ENST00000421865.2 0.044944 0.999835 ARHGAP18 93663 __UNKNOWN__ __UNKNOWN__ 6 129927014 129927014 __UNKNOWN__ Intron SNP A A G rs3813366 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:129927014A>G ENST00000368149.2 - 10 1454 NM_033515.2 NP_277050.2 Rho GTPase activating protein 18 NA NA NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3) 18 OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074) TAAATTAACCAAGCTGACCTT 0.383 NA G||| 2524 0.503994 0.7118 0.5014 5008 , , NA 17513 0.4514 NA 0.4115 False NA ,,, NA NA NA 2504 0.3742 NA NA NA NA 0 G 3005,1401 460.2+/-352.5 1032,941,230 136 142 140 0.3 0 6 dbSNP_107 140 3459,5141 636.2+/-399.1 685,2089,1526 no intron ARHGAP18 NM_033515.2 1717,3030,1756 GG,GA,AA 40.2209,31.7975,49.7001 129927014 6464,6542 2203 4300 6503 SO:0001627 intron_variant AB053293 CCDS34535.1 6q23.1 2011-06-29 ENSG00000146376 ENSG00000146376 93663 Rho GTPase activating proteins 21035 protein-coding gene gene with protein product 613351 NA Standard NM_033515 NM_033515 NA Approved MacGAP, bA307O14.2 uc003qbr.3 Q8N392 OTTHUMG00000015547 ENST00000368149.2:c.1365+7T>C chr6.hg19:g.129927014A>G NA hg19 CCDS34535.1 0.02 7.757048 ACCxAGC COVERED NOVEL ARHGAP18-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000042185.2 2 17.453565 KEEP 0 0 0 58 1846 AA 1 1 0 - 14 60 467 0 0 30.251542 225 60 8322 355 ENST00000368149.2 0.058577 1 SAMD3 154075 __UNKNOWN__ __UNKNOWN__ 6 130481105 130481105 __UNKNOWN__ 3'UTR SNP A A G rs539270458 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:130481105A>G ENST00000532763.1 - 0 3261 SAMD3_ENST00000437477.2_Intron|SAMD3_ENST00000368134.2_Intron|SAMD3_ENST00000457563.2_Intron|SAMD3_ENST00000439090.2_Intron Q8N6K7 SAMD3_HUMAN sterile alpha motif domain containing 3 NA NA breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 29 GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128) aatagattggaagtggggtgg 0.398 NA A||| 1 0.000199681 0.0 0.0 5008 , , NA 19394 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK091351 CCDS34539.1, CCDS64525.1 6q23.1 2013-01-10 ENSG00000164483 ENSG00000164483 154075 Sterile alpha motif (SAM) domain containing 21574 protein-coding gene gene with protein product NA Standard NM_152552 NM_001017373 NA Approved bA73O6.2, FLJ34032 uc031spp.1 Q8N6K7 OTTHUMG00000015556 ENST00000532763.1:c.*2304T>C chr6.hg19:g.130481105A>G NA B4DY20|E1P576|J3KQK4|Q4VXD8|Q8NAY1|Q8NB96 hg19 0.02 6.73043 TGGxAGT COVERED NOVEL SAMD3-007 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000390202.1 1 6.017761 KEEP 0 0 0 20 629 AA 0.999863 0.999863 0 - 6 60 218 0 0 13.693637 146 60 5204 201 ENST00000532763.1 0.039474 1 SAMD3 154075 __UNKNOWN__ __UNKNOWN__ 6 130504511 130504511 __UNKNOWN__ Intron SNP G G A rs202032358 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:130504511G>A ENST00000532763.1 - 6 778 SAMD3_ENST00000437477.2_Intron|SAMD3_ENST00000324172.6_Intron|SAMD3_ENST00000368134.2_Intron|SAMD3_ENST00000457563.2_Intron|SAMD3_ENST00000533296.1_Intron|SAMD3_ENST00000439090.2_Intron Q8N6K7 SAMD3_HUMAN sterile alpha motif domain containing 3 NA NA breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 29 GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128) aaaaaaaaaaGAACTGCTGCC 0.502 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK091351 CCDS34539.1, CCDS64525.1 6q23.1 2013-01-10 ENSG00000164483 ENSG00000164483 154075 Sterile alpha motif (SAM) domain containing 21574 protein-coding gene gene with protein product NA Standard NM_152552 NM_001017373 NA Approved bA73O6.2, FLJ34032 uc031spp.1 Q8N6K7 OTTHUMG00000015556 ENST00000532763.1:c.648+736C>T chr6.hg19:g.130504511G>A NA B4DY20|E1P576|J3KQK4|Q4VXD8|Q8NAY1|Q8NB96 hg19 0.02 -0.338709 AAAxAAC COVERED NOVEL SAMD3-007 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000390202.1 5 5.259183 KEEP 0 1 6 20 631 GG 0.999869 0.865632 0 - 6 60 133 0 0 9.01752 33 60 942 98 ENST00000532763.1 0.153846 0.865745 MED23 9439 __UNKNOWN__ __UNKNOWN__ 6 131917379 131917379 __UNKNOWN__ Intron SNP A A G rs2608985 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:131917379A>G ENST00000368068.3 - 22 2958 MED23_ENST00000545957.1_Intron|MED23_ENST00000403834.3_Intron|MED23_ENST00000368058.1_Intron|MED23_ENST00000368060.3_Intron|MED23_ENST00000479213.1_5'UTR|MED23_ENST00000354577.4_Intron NM_004830.3 NP_004821.2 Q9ULK4 MED23_HUMAN mediator complex subunit 23 NA NA gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367) mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667) transcription coactivator activity (GO:0003713) NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 44 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608) ATGTGAAAACATTGTTTAGAT 0.264 NA A||| 1022 0.204073 0.1301 0.245 5008 , , NA 17692 0.2956 NA 0.167 False NA ,,, NA NA NA 2504 0.2188 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF104255 CCDS5146.1, CCDS5147.1, CCDS59039.1 6q22.33-q24.1 2008-02-05 2007-08-08 2007-07-30 ENSG00000112282 ENSG00000112282 9439 2372 protein-coding gene gene with protein product 605042 cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa CRSP3 NA 9989412 Standard NM_004830 NA Approved CRSP130, DRIP130, Sur2 uc003qcs.2 Q9ULK4 OTTHUMG00000015565 ENST00000368068.3:c.2779-76T>C chr6.hg19:g.131917379A>G NA B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667 hg19 CCDS5147.1 0.02 1.912469 AACxTTG COVERED NOVEL MED23-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000042215.1 1 2.406639 KEEP 0 0 0 8 235 AA 0.99257 0.991446 0 - 5 60 182 0 0 12.551297 72 60 2619 90 ENST00000368068.3 0.064935 0.998867 MED23 9439 __UNKNOWN__ __UNKNOWN__ 6 131926334 131926334 __UNKNOWN__ Intron SNP C C T rs2608953 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:131926334C>T ENST00000368068.3 - 14 1793 MED23_ENST00000545957.1_Intron|MED23_ENST00000539158.1_Intron|MED23_ENST00000540546.1_Intron|MED23_ENST00000368053.4_Intron|MED23_ENST00000403834.3_Intron|MED23_ENST00000368058.1_Intron|MED23_ENST00000368060.3_Intron|MED23_ENST00000354577.4_Intron NM_004830.3 NP_004821.2 Q9ULK4 MED23_HUMAN mediator complex subunit 23 NA NA gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367) mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667) transcription coactivator activity (GO:0003713) NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 44 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608) ATACTATACTCGTATCAATTC 0.313 NA C||| 893 0.178315 0.0363 0.2392 5008 , , NA 15415 0.2956 NA 0.166 False NA ,,, NA NA NA 2504 0.2188 NA NA NA NA 0 C , 266,4140 146.5+/-181.1 7,252,1944 41 41 41 , -2.7 0 6 dbSNP_100 41 1274,7326 246.0+/-274.6 101,1072,3127 no intron,intron MED23 NM_004830.2,NM_015979.2 , 108,1324,5071 TT,TC,CC 14.814,6.0372,11.8407 , , 131926334 1540,11466 2203 4300 6503 SO:0001627 intron_variant AF104255 CCDS5146.1, CCDS5147.1, CCDS59039.1 6q22.33-q24.1 2008-02-05 2007-08-08 2007-07-30 ENSG00000112282 ENSG00000112282 9439 2372 protein-coding gene gene with protein product 605042 cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa CRSP3 NA 9989412 Standard NM_004830 NA Approved CRSP130, DRIP130, Sur2 uc003qcs.2 Q9ULK4 OTTHUMG00000015565 ENST00000368068.3:c.1613+45G>A chr6.hg19:g.131926334C>T NA B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667 hg19 CCDS5147.1 0.02 7.630301 ACTxGTA COVERED NOVEL MED23-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000042215.1 0 6.018883 KEEP 0 0 0 20 671 CC 0.999863 0.999863 0 - 8 60 263 0 0 15.425369 200 60 7416 241 ENST00000368068.3 0.038462 1 MED23 9439 __UNKNOWN__ __UNKNOWN__ 6 131931092 131931092 __UNKNOWN__ Intron SNP T T C rs2245133 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:131931092T>C ENST00000368068.3 - 11 1257 MED23_ENST00000545957.1_Intron|MED23_ENST00000539158.1_Intron|MED23_ENST00000540546.1_Intron|MED23_ENST00000368053.4_Intron|MED23_ENST00000403834.3_Intron|MED23_ENST00000368058.1_Intron|MED23_ENST00000368060.3_Intron|MED23_ENST00000354577.4_Intron NM_004830.3 NP_004821.2 Q9ULK4 MED23_HUMAN mediator complex subunit 23 NA NA gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367) mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667) transcription coactivator activity (GO:0003713) NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 44 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608) TCAGAACTTCTGTCAGTTCTA 0.363 NA T||| 1024 0.204473 0.1309 0.245 5008 , , NA 15468 0.2966 NA 0.167 False NA ,,, NA NA NA 2504 0.2188 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF104255 CCDS5146.1, CCDS5147.1, CCDS59039.1 6q22.33-q24.1 2008-02-05 2007-08-08 2007-07-30 ENSG00000112282 ENSG00000112282 9439 2372 protein-coding gene gene with protein product 605042 cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa CRSP3 NA 9989412 Standard NM_004830 NA Approved CRSP130, DRIP130, Sur2 uc003qcs.2 Q9ULK4 OTTHUMG00000015565 ENST00000368068.3:c.1077+93A>G chr6.hg19:g.131931092T>C NA B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667 hg19 CCDS5147.1 0.02 -0.386023 TTCxGTC COVERED NOVEL MED23-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000042215.1 1 2.705946 KEEP 0 0 0 9 253 TT 0.99254 0.911321 0 - 3 60 105 0 0 7.176508 41 60 1527 54 ENST00000368068.3 0.068182 0.918171 STX7 8417 __UNKNOWN__ __UNKNOWN__ 6 132779878 132779878 __UNKNOWN__ 3'UTR SNP T T C rs11757447 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:132779878T>C ENST00000367941.2 - 0 2918 NM_003569.2 NP_003560.2 O15400 STX7_HUMAN syntaxin 7 NA NA intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)|synaptic vesicle exocytosis (GO:0016079) endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)|SNARE complex (GO:0031201) SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149) NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(1)|lung(5) 19 Breast(56;0.0615) OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114) ACGTTCCAAATATTTCATGGG 0.294 NA T||| 1642 0.327875 0.2156 0.268 5008 , , NA 15279 0.5506 NA 0.2127 False NA ,,, NA NA NA 2504 0.411 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U77942 CCDS5153.1 6q23.1 2008-02-05 ENSG00000079950 ENSG00000079950 8417 11442 protein-coding gene gene with protein product 603217 NA 9358037 Standard NM_003569 NA Approved uc003qdg.2 O15400 OTTHUMG00000015577 ENST00000367941.2:c.*2019A>G chr6.hg19:g.132779878T>C NA E1P579|Q5SZW2|Q96ES9 hg19 CCDS5153.1 0.02 6.977952 AAAxATT COVERED NOVEL STX7-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000042252.2 0 12.335488 KEEP 0 0 0 41 1256 TT 1 1 0 - 8 60 312 0 0 20.577774 184 60 6701 268 ENST00000367941.2 0.041667 1 STX7 8417 __UNKNOWN__ __UNKNOWN__ 6 132780167 132780167 __UNKNOWN__ 3'UTR SNP G G A rs1044083 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:132780167G>A ENST00000367941.2 - 0 2629 NM_003569.2 NP_003560.2 O15400 STX7_HUMAN syntaxin 7 NA NA intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)|synaptic vesicle exocytosis (GO:0016079) endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)|SNARE complex (GO:0031201) SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149) NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(1)|lung(5) 19 Breast(56;0.0615) OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114) CCATGGGGATGGGACTTTAAA 0.423 NA G||| 1161 0.231829 0.3018 0.2089 5008 , , NA 17655 0.1567 NA 0.2087 False NA ,,, NA NA NA 2504 0.2546 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U77942 CCDS5153.1 6q23.1 2008-02-05 ENSG00000079950 ENSG00000079950 8417 11442 protein-coding gene gene with protein product 603217 NA 9358037 Standard NM_003569 NA Approved uc003qdg.2 O15400 OTTHUMG00000015577 ENST00000367941.2:c.*1730C>T chr6.hg19:g.132780167G>A NA E1P579|Q5SZW2|Q96ES9 hg19 CCDS5153.1 0.02 9.350277 GATxGGA COVERED NOVEL STX7-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000042252.2 2 5.451511 KEEP 0 1 28 28 965 GG 0.999997 0.999997 0 - 7 60 263 0 0 16.065452 221 60 8185 275 ENST00000367941.2 0.030702 1 STX7 8417 __UNKNOWN__ __UNKNOWN__ 6 132781339 132781339 __UNKNOWN__ 3'UTR SNP C C T rs3183732 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:132781339C>T ENST00000367941.2 - 0 1457 NM_003569.2 NP_003560.2 O15400 STX7_HUMAN syntaxin 7 NA NA intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)|synaptic vesicle exocytosis (GO:0016079) endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)|SNARE complex (GO:0031201) SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149) NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(1)|lung(5) 19 Breast(56;0.0615) OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114) AAGTATTCACCGACTTCAGGG 0.308 NA C||| 2047 0.408746 0.2231 0.4193 5008 , , NA 16936 0.6895 NA 0.3062 False NA ,,, NA NA NA 2504 0.4683 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U77942 CCDS5153.1 6q23.1 2008-02-05 ENSG00000079950 ENSG00000079950 8417 11442 protein-coding gene gene with protein product 603217 NA 9358037 Standard NM_003569 NA Approved uc003qdg.2 O15400 OTTHUMG00000015577 ENST00000367941.2:c.*558G>A chr6.hg19:g.132781339C>T NA E1P579|Q5SZW2|Q96ES9 hg19 CCDS5153.1 0.02 8.562821 CACxGAC COVERED NOVEL STX7-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000042252.2 3 15.048 KEEP 0 0 0 50 1700 CC 1 1 0 - 7 60 262 0 0 16.306673 197 60 6759 304 ENST00000367941.2 0.034314 1 STX7 8417 __UNKNOWN__ __UNKNOWN__ 6 132781472 132781472 __UNKNOWN__ 3'UTR SNP G G T rs3800204 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:132781472G>T ENST00000367941.2 - 0 1324 NM_003569.2 NP_003560.2 O15400 STX7_HUMAN syntaxin 7 NA NA intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)|synaptic vesicle exocytosis (GO:0016079) endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)|SNARE complex (GO:0031201) SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149) NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(1)|lung(5) 19 Breast(56;0.0615) OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114) TATTTTCCCTGCTGAAGCAAA 0.328 NA G||| 1632 0.325879 0.2163 0.268 5008 , , NA 15778 0.5417 NA 0.2127 False NA ,,, NA NA NA 2504 0.409 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U77942 CCDS5153.1 6q23.1 2008-02-05 ENSG00000079950 ENSG00000079950 8417 11442 protein-coding gene gene with protein product 603217 NA 9358037 Standard NM_003569 NA Approved uc003qdg.2 O15400 OTTHUMG00000015577 ENST00000367941.2:c.*425C>A chr6.hg19:g.132781472G>T NA E1P579|Q5SZW2|Q96ES9 hg19 CCDS5153.1 0.02 6.418918 CCTxCTG COVERED NOVEL STX7-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000042252.2 2 12.942466 KEEP 0 0 0 43 1544 GG 1 1 0 - 12 60 435 0 0 29.577176 186 60 6996 280 ENST00000367941.2 0.060606 1 TAAR3 9288 __UNKNOWN__ __UNKNOWN__ 6 132929904 132929904 __UNKNOWN__ RNA SNP C C T rs3813352 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:132929904C>T ENST00000466706.1 - 0 537 NR_028511.1 Q9P1P4 TAAR3_HUMAN trace amine associated receptor 3 (gene/pseudogene) NA NA sensory perception of chemical stimulus (GO:0007606) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594) NA CCGGAAACATCGGCCTCAGAT 0.408 NA T||| 2583 0.515775 0.8064 0.3833 5008 , , NA 20568 0.5 NA 0.3101 False NA ,,, NA NA NA 2504 0.4448 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AF112461 6q23-q24 2012-08-08 2008-04-16 2005-02-24 ENSG00000179073 ENSG00000179073 9288 GPCR / Class A : Trace amine associated receptors 4513 protein-coding gene gene with protein product G protein-coupled receptor 57, trace amine associated receptor 3 GPR57 NA 10684976, 14559210, 15718104, 15891052, 19325074 Standard NR_028511 NA Approved uc021zfk.1 Q9P1P4 OTTHUMG00000015584 ENST00000466706.1: chr6.hg19:g.132929904C>T NA hg19 0.02 18.408349 CATxGGC COVERED NOVEL TAAR3-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000337867.1 7 11.435946 KEEP 0 0 0 38 1278 CC 1 1 0 - 15 60 573 0 0 36.347972 406 60 14247 523 ENST00000466706.1 0.035629 1 TAAR3 9288 __UNKNOWN__ __UNKNOWN__ 6 132929911 132929911 __UNKNOWN__ RNA SNP A A G rs3813351 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:132929911A>G ENST00000466706.1 - 0 530 NR_028511.1 Q9P1P4 TAAR3_HUMAN trace amine associated receptor 3 (gene/pseudogene) NA NA sensory perception of chemical stimulus (GO:0007606) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594) NA CATCGGCCTCAGATAGAACTA 0.403 NA G||| 2143 0.427915 0.6256 0.3026 5008 , , NA 20569 0.4266 NA 0.2843 False NA ,,, NA NA NA 2504 0.3988 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AF112461 6q23-q24 2012-08-08 2008-04-16 2005-02-24 ENSG00000179073 ENSG00000179073 9288 GPCR / Class A : Trace amine associated receptors 4513 protein-coding gene gene with protein product G protein-coupled receptor 57, trace amine associated receptor 3 GPR57 NA 10684976, 14559210, 15718104, 15891052, 19325074 Standard NR_028511 NA Approved uc021zfk.1 Q9P1P4 OTTHUMG00000015584 ENST00000466706.1: chr6.hg19:g.132929911A>G NA hg19 0.02 17.463987 CTCxGAT COVERED NOVEL TAAR3-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000337867.1 7 10.83215 KEEP 0 0 0 36 1127 AA 0.999999 0.999999 0 - 15 60 533 0 0 32.455066 400 60 14911 519 ENST00000466706.1 0.036145 1 VNN1 8876 __UNKNOWN__ __UNKNOWN__ 6 133003865 133003865 __UNKNOWN__ 3'UTR SNP A A T rs1044593 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:133003865A>T ENST00000367928.4 - 0 1969 NM_004666.2 NP_004657.2 O95497 VNN1_HUMAN vanin 1 NA NA acute inflammatory response (GO:0002526)|cellular component movement (GO:0006928)|chronic inflammatory response (GO:0002544)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|pantothenate metabolic process (GO:0015939)|positive regulation of T cell differentiation in thymus (GO:0033089)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337) anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) GPI anchor binding (GO:0034235)|pantetheine hydrolase activity (GO:0017159) NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1) 31 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189) GGTAAAAAACAAAAAGAGCAA 0.343 NA T||| 2125 0.424321 0.7239 0.3948 5008 , , NA 16878 0.3502 NA 0.2932 False NA ,,, NA NA NA 2504 0.2515 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ132099 CCDS5159.1 6q23-q24 2013-02-13 ENSG00000112299 ENSG00000112299 8876 3.5.1.92 Vanins 12705 protein-coding gene gene with protein product 603570 NA 9790769 Standard NM_004666 NA Approved Tiff66 uc003qdo.3 O95497 OTTHUMG00000015587 ENST00000367928.4:c.*414T>A chr6.hg19:g.133003865A>T NA A8K310|Q4JFW6|Q4VAS7|Q4VAS8|Q4VAS9|Q9UF16|Q9UJF4 hg19 CCDS5159.1 0.02 4.461033 AACxAAA COVERED NOVEL VNN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000042263.1 0 9.325985 KEEP 0 0 0 31 936 AA 0.999997 0.999997 0 - 5 60 191 0 0 12.335979 122 60 4481 181 ENST00000367928.4 0.03937 1 VNN1 8876 __UNKNOWN__ __UNKNOWN__ 6 133015227 133015227 __UNKNOWN__ Missense_Mutation SNP C C T rs45624336 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:133015227C>T ENST00000367928.4 - 3 449 c.436G>A c.(436-438)Gat>Aat p.D146N NM_004666.2 NP_004657.2 O95497 VNN1_HUMAN vanin 1 146 CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}. NA D -> N (in dbSNP:rs45624336). {ECO:0000269|Ref.4}. acute inflammatory response (GO:0002526)|cellular component movement (GO:0006928)|chronic inflammatory response (GO:0002544)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|pantothenate metabolic process (GO:0015939)|positive regulation of T cell differentiation in thymus (GO:0033089)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337) anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) GPI anchor binding (GO:0034235)|pantetheine hydrolase activity (GO:0017159) NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1) 31 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189) TCACTGGTATCGCATGGCTTC 0.473 NA c||| 20 0.00399361 0.0 0.0 5008 , , NA 17333 0.0188 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 C ASN/ASP 1,4405 2.1+/-5.4 0,1,2202 181 161 168 436 1.6 0.3 6 dbSNP_127 168 1,8599 1.2+/-3.3 0,1,4299 yes missense VNN1 NM_004666.2 23 0,2,6501 TT,TC,CC 0.0116,0.0227,0.0154 benign 146/514 133015227 2,13004 2203 4300 6503 SO:0001583 missense AJ132099 CCDS5159.1 6q23-q24 2013-02-13 ENSG00000112299 ENSG00000112299 8876 3.5.1.92 Vanins 12705 protein-coding gene gene with protein product 603570 NA 9790769 Standard NM_004666 NA Approved Tiff66 uc003qdo.3 O95497 OTTHUMG00000015587 ENST00000367928.4:c.436G>A chr6.hg19:g.133015227C>T ENSP00000356905:p.Asp146Asn NA A8K310|Q4JFW6|Q4VAS7|Q4VAS8|Q4VAS9|Q9UF16|Q9UJF4 hg19 CCDS5159.1 0.02 15.462057 TATxGCA COVERED . . . . . . . . . . c 0.072 -1.199941 0.01581 2.27E-4 1.16E-4 ENSG00000112299 ENST00000367928 D 0.87887 -2.31 6.07 1.59 0.23543 Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4); 0.203473 0.41938 N 0.000782 T 0.36138 0.0956 N 0.00808 -1.17 0.09310 N 1 B 0.06786 0.001 B 0.10450 0.005 T 0.51371 -0.8714 10 0.02654 T 1 -5.4726 11.8722 0.52527 0.0:0.2623:0.0:0.7377 rs45624336 146 O95497 VNN1_HUMAN N 146 ENSP00000356905:D146N ENSP00000356905:D146N D - 1 0 VNN1 133056920 0.708000 0.27876 0.291000 0.24904 0.323000 0.28346 0.321000 0.19558 0.436000 0.26393 -0.295000 0.09555 GAT NOVEL VNN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000042263.1 1 15.950368 KEEP 0 0 0 53 1791 CC 1 1 0 - 16 60 591 0 0 38.108938 355 60 12696 515 ENST00000367928.4 0.043127 1 TBPL1 9519 __UNKNOWN__ __UNKNOWN__ 6 134304023 134304023 __UNKNOWN__ Intron SNP C C T rs2076583 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:134304023C>T ENST00000237264.4 + 4 557 TBPL1_ENST00000477527.1_Intron|TBPL1_ENST00000367871.1_Intron NM_001253676.1|NM_004865.3 NP_001240605.1|NP_004856.1 P62380 TBPL1_HUMAN TBP-like 1 NA NA acrosome assembly (GO:0001675)|DNA-templated transcription, initiation (GO:0006352)|dTTP biosynthetic process (GO:0006235)|regulation of transcription, DNA-templated (GO:0006355)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366) cytoplasm (GO:0005737)|transcription factor TFIIA complex (GO:0005672) DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 6 Colorectal(23;0.221)|Breast(56;0.247) GBM - Glioblastoma multiforme(68;0.00591)|OV - Ovarian serous cystadenocarcinoma(155;0.00848) TTTCAGGTAACGTTTTCAAAT 0.318 NA C||| 1183 0.236222 0.0688 0.3228 5008 , , NA 16606 0.1508 NA 0.495 False NA ,,, NA NA NA 2504 0.2229 NA NA NA NA 0 C 652,3750 266.5+/-267.3 69,514,1618 66 64 64 -3.3 0 6 dbSNP_96 64 4591,4007 588.9+/-392.4 1234,2123,942 no intron TBPL1 NM_004865.2 1303,2637,2560 TT,TC,CC 46.6039,14.8114,40.3308 134304023 5243,7757 2201 4299 6500 SO:0001627 intron_variant AB020881 CCDS5168.1 6q22.1-q22.3 2008-05-23 ENSG00000028839 ENSG00000028839 9519 11589 protein-coding gene gene with protein product 605521 NA 10082669, 10220372, 15767669 Standard NM_001253676 NA Approved TLP, STUD, TRF2, TLF uc010kgg.3 P62380 OTTHUMG00000015609 ENST00000237264.4:c.282+5C>T chr6.hg19:g.134304023C>T NA A8K8F5|O95753|Q9BWD5|Q9Z2Z0 hg19 CCDS5168.1 0.02 19.310798 TAAxGTT COVERED NOVEL TBPL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000042294.2 4 33.336176 KEEP 0 1 29 121 4104 CC 1 1 0 + 12 60 454 0 0 26.803981 465 60 15991 755 ENST00000237264.4 0.025157 1 SGK1 6446 __UNKNOWN__ __UNKNOWN__ 6 134496112 134496112 __UNKNOWN__ Intron SNP G G A rs1743964 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:134496112G>A ENST00000367858.5 - 4 959 SGK1_ENST00000413996.3_Intron|SGK1_ENST00000528577.1_Intron NM_001143676.1 NP_001137148.1 O00141 SGK1_HUMAN serum/glucocorticoid regulated kinase 1 NA NA apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|ion transmembrane transport (GO:0034220)|long-term memory (GO:0007616)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of gastric acid secretion (GO:0060453)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|renal sodium ion absorption (GO:0070294)|response to stress (GO:0006950)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085) cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|sodium channel regulator activity (GO:0017080) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1) 46 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847) ccccgccccGGCCGCCTCGCG 0.771 NA A||| 3281 0.655152 0.9365 0.6628 5008 , , NA 10021 0.4563 NA 0.6779 False NA ,,, NA NA NA 2504 0.4509 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ000512 CCDS5170.1, CCDS47476.1, CCDS47477.1, CCDS47478.1 6q23 2008-02-05 2007-12-05 2007-12-05 ENSG00000118515 ENSG00000118515 6446 10810 protein-coding gene gene with protein product 602958 serum/glucocorticoid regulated kinase SGK NA 9114008, 9722955 Standard NM_005627 NA Approved uc003qeo.4 O00141 OTTHUMG00000015613 ENST00000367858.5:c.362-388C>T chr6.hg19:g.134496112G>A NA B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56 hg19 CCDS47476.1 0.02 -0.271968 CCGxCCG COVERED NOVEL SGK1-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000042304.2 2 2.312794 KEEP 0 2 54 27 915 GG 0.999997 0.739669 0 - 3 60 102 0 0 7.352202 28 60 1047 75 ENST00000367858.5 0.096774 0.739671 ALDH8A1 64577 __UNKNOWN__ __UNKNOWN__ 6 135260303 135260303 __UNKNOWN__ Intron SNP T T C rs7754722 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:135260303T>C ENST00000265605.2 - 4 661 ALDH8A1_ENST00000367845.2_Intron|ALDH8A1_ENST00000367847.2_Intron NM_022568.3 NP_072090.1 Q9H2A2 AL8A1_HUMAN aldehyde dehydrogenase 8 family, member A1 NA NA 9-cis-retinoic acid biosynthetic process (GO:0042904)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622) retinal dehydrogenase activity (GO:0001758) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 36 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058) ACAAAGCCCATGATGTCACTG 0.507 NA C||| 3624 0.723642 0.7579 0.7334 5008 , , NA 17908 0.7579 NA 0.6511 False NA ,,, NA NA NA 2504 0.7096 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL021939 CCDS5171.1, CCDS5172.1, CCDS55057.1 6q24.1-q25.1 2008-07-03 ENSG00000118514 ENSG00000118514 64577 Aldehyde dehydrogenases 15471 protein-coding gene gene with protein product 606467 NA 11007799 Standard NM_001193480 NA Approved ALDH12 uc003qew.3 Q9H2A2 OTTHUMG00000015623 ENST00000265605.2:c.592+100A>G chr6.hg19:g.135260303T>C NA B7Z521|O60793|Q24JS9|Q53GT3|Q5TI80 hg19 CCDS5171.1 0.02 4.375449 CCAxGAT COVERED NOVEL ALDH8A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000042334.2 1 3.909949 KEEP 0 0 0 13 376 TT 0.994391 0.994387 0 - 6 60 219 0 0 14.55902 108 60 3941 134 ENST00000265605.2 0.052632 0.999996 HBS1L 10767 __UNKNOWN__ __UNKNOWN__ 6 135286230 135286230 __UNKNOWN__ 3'UTR SNP T T C rs11549504 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:135286230T>C ENST00000367837.5 - 0 2448 HBS1L_ENST00000367826.2_3'UTR|HBS1L_ENST00000415177.2_3'UTR|HBS1L_ENST00000367824.4_3'UTR|HBS1L_ENST00000527578.1_3'UTR NM_001145158.1|NM_006620.3 NP_001138630.1|NP_006611.1 Q9Y450 HBS1L_HUMAN HBS1-like translational GTPase NA NA signal transduction (GO:0007165)|translation (GO:0006412) extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746) NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 20 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702) TCTTTGCCAGTTGGCAACTTA 0.294 NA T||| 923 0.184305 0.0643 0.2464 5008 , , NA 17161 0.2907 NA 0.1332 False NA ,,, NA NA NA 2504 0.2454 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U87791 CCDS5173.1, CCDS47479.1, CCDS47480.1 6q23.3 2014-04-30 2014-04-30 ENSG00000112339 ENSG00000112339 10767 4834 protein-coding gene gene with protein product eRF3 family member 612450 HBS1 (S. cerevisiae)-like, HBS1-like (S. cerevisiae) NA 9872408, 23667253 Standard NM_006620 NA Approved ERFS, HBS1, HSPC276, KIAA1038, DKFZp434g247, EF-1a, eRF3c uc003qez.2 Q9Y450 OTTHUMG00000015626 ENST00000367837.5:c.*187A>G chr6.hg19:g.135286230T>C NA B7Z365|Q4VX89|Q4VX90|Q5T7G3|Q8NDW9|Q9UPW3 hg19 CCDS5173.1 0.02 8.894755 CAGxTGG COVERED NOVEL HBS1L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000042339.2 1 2.40667 KEEP 0 0 0 8 235 TT 0.99257 0.99257 0 - 9 60 341 0 0 22.024204 214 60 7422 232 ENST00000367837.5 0.040359 1 HBS1L 10767 __UNKNOWN__ __UNKNOWN__ 6 135287413 135287413 __UNKNOWN__ Intron SNP A A T rs9402669 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:135287413A>T ENST00000367837.5 - 17 2250 HBS1L_ENST00000367826.2_Intron|HBS1L_ENST00000415177.2_Intron|HBS1L_ENST00000445176.2_Intron|HBS1L_ENST00000367824.4_Intron|HBS1L_ENST00000527578.1_Intron NM_001145158.1|NM_006620.3 NP_001138630.1|NP_006611.1 Q9Y450 HBS1L_HUMAN HBS1-like translational GTPase NA NA signal transduction (GO:0007165)|translation (GO:0006412) extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746) NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 20 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702) AAAGGTAAAAAAGAAAAGGCA 0.348 NA A||| 924 0.184505 0.0643 0.2464 5008 , , NA 17063 0.2907 NA 0.1342 False NA ,,, NA NA NA 2504 0.2454 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U87791 CCDS5173.1, CCDS47479.1, CCDS47480.1 6q23.3 2014-04-30 2014-04-30 ENSG00000112339 ENSG00000112339 10767 4834 protein-coding gene gene with protein product eRF3 family member 612450 HBS1 (S. cerevisiae)-like, HBS1-like (S. cerevisiae) NA 9872408, 23667253 Standard NM_006620 NA Approved ERFS, HBS1, HSPC276, KIAA1038, DKFZp434g247, EF-1a, eRF3c uc003qez.2 Q9Y450 OTTHUMG00000015626 ENST00000367837.5:c.2043+53T>A chr6.hg19:g.135287413A>T NA B7Z365|Q4VX89|Q4VX90|Q5T7G3|Q8NDW9|Q9UPW3 hg19 CCDS5173.1 0.02 4.235373 AAAxAGA COVERED NOVEL HBS1L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000042339.2 0 7.823721 KEEP 0 0 0 26 839 AA 0.999957 0.999957 0 - 6 60 218 0 0 14.109279 124 60 4368 172 ENST00000367837.5 0.046154 1 PDE7B 27115 __UNKNOWN__ __UNKNOWN__ 6 136472439 136472439 __UNKNOWN__ Intron SNP G G A rs4896201 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:136472439G>A ENST00000308191.6 + 6 781 RP13-143G15.4_ENST00000417643.1_RNA|RP13-143G15.4_ENST00000585946.1_RNA|RP13-143G15.4_ENST00000591521.1_RNA NM_018945.3 NP_061818.1 Q9NP56 PDE7B_HUMAN phosphodiesterase 7B NA NA cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268) cytosol (GO:0005829) 3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872) breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Colorectal(23;0.24) OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147) Caffeine(DB00201)|Dyphylline(DB00651)|Ketotifen(DB00920) CTTGAATAATGGCAATGCATA 0.328 NA G||| 2104 0.420128 0.2474 0.5346 5008 , , NA 18414 0.5476 NA 0.3966 False NA ,,, NA NA NA 2504 0.4652 NA NA NA NA 0 G 1237,3169 424.7+/-340.5 200,837,1166 68 55 59 0.9 0 6 dbSNP_111 59 3610,4990 516.1+/-378.7 765,2080,1455 no intron PDE7B NM_018945.3 965,2917,2621 AA,AG,GG 41.9767,28.0754,37.2674 136472439 4847,8159 2203 4300 6503 SO:0001627 intron_variant AB038040 CCDS5175.1 6q23-q24 2008-03-18 ENSG00000171408 ENSG00000171408 27115 3.1.4.17 Phosphodiesterases 8792 protein-coding gene gene with protein product 604645 NA 10618442 Standard XM_005266931 NA Approved uc003qgp.3 Q9NP56 OTTHUMG00000015641 ENST00000308191.6:c.478+46G>A chr6.hg19:g.136472439G>A NA Q5W154 hg19 CCDS5175.1 0.02 9.481503 AATxGCA COVERED NOVEL PDE7B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000042371.1 0 12.036097 KEEP 0 0 0 40 1319 GG 1 1 0 + 9 60 347 0 0 22.843973 202 60 7165 264 ENST00000308191.6 0.042654 1 PDE7B 27115 __UNKNOWN__ __UNKNOWN__ 6 136500049 136500049 __UNKNOWN__ Intron SNP A A G rs3734547 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:136500049A>G ENST00000308191.6 + 10 1106 RP13-143G15.4_ENST00000417643.1_RNA|RP13-143G15.4_ENST00000585946.1_RNA|RP13-143G15.4_ENST00000591521.1_RNA NM_018945.3 NP_061818.1 Q9NP56 PDE7B_HUMAN phosphodiesterase 7B NA NA cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268) cytosol (GO:0005829) 3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872) breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Colorectal(23;0.24) OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147) Caffeine(DB00201)|Dyphylline(DB00651)|Ketotifen(DB00920) TTAGATTACAAGCCACCTGAT 0.423 NA A||| 239 0.0477236 0.0038 0.1628 5008 , , NA 20812 0.1042 NA 0.0099 False NA ,,, NA NA NA 2504 0.0061 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB038040 CCDS5175.1 6q23-q24 2008-03-18 ENSG00000171408 ENSG00000171408 27115 3.1.4.17 Phosphodiesterases 8792 protein-coding gene gene with protein product 604645 NA 10618442 Standard XM_005266931 NA Approved uc003qgp.3 Q9NP56 OTTHUMG00000015641 ENST00000308191.6:c.804-86A>G chr6.hg19:g.136500049A>G NA Q5W154 hg19 CCDS5175.1 0.02 4.413842 ACAxGCC COVERED NOVEL PDE7B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000042371.1 0 3.610929 KEEP 0 0 0 12 383 AA 0.993634 0.993632 0 + 6 60 230 0 0 15.497321 115 60 4036 133 ENST00000308191.6 0.049587 0.999999 BCLAF1 9774 __UNKNOWN__ __UNKNOWN__ 6 136599714 136599714 __UNKNOWN__ Missense_Mutation SNP G G A rs147983194 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:136599714G>A ENST00000531224.1 - 4 557 c.305C>T c.(304-306)tCt>tTt p.S102F BCLAF1_ENST00000527759.1_Missense_Mutation_p.S100F|BCLAF1_ENST00000392348.2_Missense_Mutation_p.S100F|BCLAF1_ENST00000353331.4_Missense_Mutation_p.S100F|BCLAF1_ENST00000527536.1_Missense_Mutation_p.S102F|BCLAF1_ENST00000530767.1_Missense_Mutation_p.S102F NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 102 NA apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634) DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822) p.S102C(1) haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) AGGACTCCTAGAGTGCCTTCT 0.478 NA NA NA NA NA NA NA NA NA NA Colon(142;1534 1789 5427 7063 28491) NA 1 Substitution - Missense(1) lung(1) G PHE/SER,PHE/SER,PHE/SER 2,4404 4.2+/-10.8 0,2,2201 146 143 144 299,305,305 5.2 1 6 dbSNP_134 144 0,8600 0,0,4300 yes missense,missense,missense BCLAF1 NM_001077440.1,NM_001077441.1,NM_014739.2 155,155,155 0,2,6501 AA,AG,GG 0.0,0.0454,0.0154 possibly-damaging,possibly-damaging,possibly-damaging 100/870,102/748,102/921 136599714 2,13004 2203 4300 6503 SO:0001583 missense AF249273 CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1 6q22-q23 2007-03-02 ENSG00000029363 ENSG00000029363 9774 16863 protein-coding gene gene with protein product 612588 NA 8724849, 10330179 Standard NM_014739 NM_001077440 NA Approved KIAA0164, BTF uc003qgx.1 Q9NYF8 OTTHUMG00000033323 ENST00000531224.1:c.305C>T chr6.hg19:g.136599714G>A ENSP00000435210:p.Ser102Phe NA A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0 hg19 CCDS5177.1 0.02 10.34281 CTAxAGT COVERED . . . . . . . . . . G 16.01 3.000043 0.54147 4.54E-4 0.0 ENSG00000029363 ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826 T;T;T;T;T;T;T 0.15603 2.83;2.83;2.82;2.41;2.83;2.83;2.63 5.21 5.21 0.72293 . 0.000000 0.64402 D 0.000014 T 0.30417 0.0764 L 0.52573 1.65 0.80722 D 1 D;D;D;D 0.64830 0.994;0.994;0.994;0.994 D;D;D;D 0.74348 0.983;0.983;0.983;0.983 T 0.03077 -1.1075 10 0.87932 D 0 -6.9178 19.1308 0.93406 0.0:0.0:1.0:0.0 . 100;100;102;102 Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4 .;.;BCLF1_HUMAN;. F 102;100;102;102;100;100;102 ENSP00000435210:S102F;ENSP00000229446:S100F;ENSP00000435441:S102F;ENSP00000436501:S102F;ENSP00000434826:S100F;ENSP00000376159:S100F;ENSP00000431734:S102F ENSP00000229446:S100F S - 2 0 BCLAF1 136641407 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 7.130000 0.77235 2.602000 0.87976 0.557000 0.71058 TCT NOVEL BCLAF1-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000042375.2 0 10.532869 KEEP 0 0 0 35 1164 GG 0.999999 0.999999 0 - 9 60 323 0 0 19.58736 253 60 9401 313 ENST00000531224.1 0.034351 1 IL20RA 53832 __UNKNOWN__ __UNKNOWN__ 6 137366196 137366196 __UNKNOWN__ 5'UTR SNP G G A rs11154904 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:137366196G>A ENST00000367748.1 - 0 102 NM_001278723.1 NP_001265652.1 Q9UHF4 I20RA_HUMAN interleukin 20 receptor, alpha NA NA cytokine-mediated signaling pathway (GO:0019221)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of bone resorption (GO:0045124) integral component of membrane (GO:0016021) NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459) CGGGGTTCATGCCCAGACCAA 0.562 NA G||| 710 0.141773 0.0257 0.134 5008 , , NA 17839 0.3442 NA 0.0606 False NA ,,, NA NA NA 2504 0.1789 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF184971 CCDS5181.1, CCDS64535.1, CCDS64536.1 6q23.3 2008-02-05 ENSG00000016402 ENSG00000016402 53832 Interleukins and interleukin receptors 6003 protein-coding gene gene with protein product 605620 NA 10875937, 11163236 Standard NM_014432 NM_001278724 NA Approved ZCYTOR7, IL-20R1 uc003qhj.3 Q9UHF4 OTTHUMG00000015654 ENST00000367748.1:c.-485C>T chr6.hg19:g.137366196G>A NA B4DLR5|F5H675|Q14CW2|Q6UWA9|Q96SH8 hg19 0.02 4.305172 CATxCCC COVERED NOVEL IL20RA-201 KNOWN basic protein_coding NA protein_coding 1 15.048833 KEEP 0 0 0 50 1773 GG 1 0.999999 0 - 6 60 225 0 0 14.975649 116 60 4449 213 ENST00000367748.1 0.04918 0.999999 IL20RA 53832 __UNKNOWN__ __UNKNOWN__ 6 137366197 137366197 __UNKNOWN__ 5'UTR SNP C C A rs11154905 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:137366197C>A ENST00000367748.1 - 0 101 NM_001278723.1 NP_001265652.1 Q9UHF4 I20RA_HUMAN interleukin 20 receptor, alpha NA NA cytokine-mediated signaling pathway (GO:0019221)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of bone resorption (GO:0045124) integral component of membrane (GO:0016021) NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459) GGGGTTCATGCCCAGACCAAC 0.557 NA C||| 711 0.141973 0.0257 0.134 5008 , , NA 17948 0.3433 NA 0.0616 False NA ,,, NA NA NA 2504 0.18 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF184971 CCDS5181.1, CCDS64535.1, CCDS64536.1 6q23.3 2008-02-05 ENSG00000016402 ENSG00000016402 53832 Interleukins and interleukin receptors 6003 protein-coding gene gene with protein product 605620 NA 10875937, 11163236 Standard NM_014432 NM_001278724 NA Approved ZCYTOR7, IL-20R1 uc003qhj.3 Q9UHF4 OTTHUMG00000015654 ENST00000367748.1:c.-486G>T chr6.hg19:g.137366197C>A NA B4DLR5|F5H675|Q14CW2|Q6UWA9|Q96SH8 hg19 0.02 4.387506 ATGxCCA COVERED NOVEL IL20RA-201 KNOWN basic protein_coding NA protein_coding 1 14.747502 KEEP 0 0 0 49 1724 CC 1 0.999999 0 - 7 60 253 0 0 16.953438 117 60 4364 210 ENST00000367748.1 0.056452 0.999999 IL22RA2 116379 __UNKNOWN__ __UNKNOWN__ 6 137482982 137482982 __UNKNOWN__ Intron SNP C C T rs11154915 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:137482982C>T ENST00000349184.4 - 2 236 IL22RA2_ENST00000339602.3_Intron|IL22RA2_ENST00000296980.2_Intron NM_181309.1 NP_851826.1 Q969J5 I22R2_HUMAN interleukin 22 receptor, alpha 2 NA NA cytokine-mediated signaling pathway (GO:0019221)|negative regulation of inflammatory response (GO:0050728)|regulation of tyrosine phosphorylation of Stat3 protein (GO:0042516) cytosol (GO:0005829)|extracellular space (GO:0005615) interleukin-22 binding (GO:0042017)|interleukin-22 receptor activity (GO:0042018) endometrium(1)|large_intestine(1)|lung(3) 5 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000313)|OV - Ovarian serous cystadenocarcinoma(155;0.00407) CAATCACTCCCGGGTTTAAGG 0.348 NA T||| 598 0.119409 0.0696 0.0893 5008 , , NA 18993 0.1478 NA 0.174 False NA ,,, NA NA NA 2504 0.1227 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY044429 CCDS5182.1, CCDS5183.1, CCDS5184.1 6q24.1-q24.2 2008-02-05 ENSG00000164485 ENSG00000164485 116379 Interleukins and interleukin receptors 14901 protein-coding gene gene with protein product 606648 NA 11481447, 11390454 Standard NM_181309 NA Approved CRF2-S1, IL-22BP uc003qhl.3 Q969J5 OTTHUMG00000015655 ENST00000349184.4:c.65-31G>A chr6.hg19:g.137482982C>T NA Q08AH7|Q6UWM1|Q96A41|Q96QR0 hg19 CCDS5183.1 0.02 17.733832 TCCxGGG COVERED NOVEL IL22RA2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000042398.1 1 16.54702 KEEP 0 0 0 55 1805 CC 1 1 0 - 16 60 609 0 0 38.694228 424 60 14493 616 ENST00000349184.4 0.036364 1 CCDC28A 25901 __UNKNOWN__ __UNKNOWN__ 6 139106599 139106599 __UNKNOWN__ Intron SNP A A C rs3763185 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:139106599A>C ENST00000332797.6 + 4 902 NM_015439.2 NP_056254.1 Q8IWP9 CC28A_HUMAN coiled-coil domain containing 28A NA NA autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1) 13 OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306) attttaatgtatacaatcacg 0.378 NA a||| 635 0.126797 0.0499 0.17 5008 , , NA 18937 0.1736 NA 0.1958 False NA ,,, NA NA NA 2504 0.0808 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY167571 CCDS5192.1 6q23.1-q24.1 2008-02-05 2005-09-12 2005-09-12 ENSG00000024862 ENSG00000024862 25901 21098 protein-coding gene gene with protein product 615353 chromosome 6 open reading frame 80 C6orf80 NA Standard NM_015439 NM_015439 NA Approved CCRL1AP, DKFZp586D0623 uc003qie.3 Q8IWP9 OTTHUMG00000015683 ENST00000332797.6:c.747+81A>C chr6.hg19:g.139106599A>C NA E1P591|Q32NC7|Q66K67|Q96E23|Q9Y430 hg19 CCDS5192.1 0.02 23.860745 TGTxTAC COVERED NOVEL CCDC28A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000042444.1 4 43.927086 KEEP 0 0 0 146 4534 AA 1 1 0 + 23 60 864 0 0 56.381901 502 60 18093 840 ENST00000332797.6 0.04381 1 CCDC28A 25901 __UNKNOWN__ __UNKNOWN__ 6 139114163 139114163 __UNKNOWN__ 3'UTR SNP C C T rs6756 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:139114163C>T ENST00000332797.6 + 0 1203 NM_015439.2 NP_056254.1 Q8IWP9 CC28A_HUMAN coiled-coil domain containing 28A NA NA autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1) 13 OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306) GGAAATGTGACGCAGAGATTG 0.428 NA T||| 1462 0.291933 0.472 0.255 5008 , , NA 20079 0.2669 NA 0.2753 False NA ,,, NA NA NA 2504 0.1176 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY167571 CCDS5192.1 6q23.1-q24.1 2008-02-05 2005-09-12 2005-09-12 ENSG00000024862 ENSG00000024862 25901 21098 protein-coding gene gene with protein product 615353 chromosome 6 open reading frame 80 C6orf80 NA Standard NM_015439 NM_015439 NA Approved CCRL1AP, DKFZp586D0623 uc003qie.3 Q8IWP9 OTTHUMG00000015683 ENST00000332797.6:c.*223C>T chr6.hg19:g.139114163C>T NA E1P591|Q32NC7|Q66K67|Q96E23|Q9Y430 hg19 CCDS5192.1 0.02 5.737846 TGAxGCA COVERED NOVEL CCDC28A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000042444.1 0 4.814997 KEEP 0 0 0 16 534 CC 0.997832 0.997832 0 + 6 60 217 0 0 12.907797 191 60 6542 224 ENST00000332797.6 0.030457 1 TXLNB 167838 __UNKNOWN__ __UNKNOWN__ 6 139609755 139609755 __UNKNOWN__ Silent SNP T T C rs6933125 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:139609755T>C ENST00000358430.3 - 2 514 c.282A>G c.(280-282)tcA>tcG p.S94S NM_153235.3 NP_694967.3 Q8N3L3 TXLNB_HUMAN taxilin beta 94 NA cytoplasm (GO:0005737) breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 37 OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235) CGTTGTCAGGTGATTCTGCAT 0.552 NA T||| 401 0.0800719 0.1626 0.072 5008 , , NA 19227 0.1161 NA 0.001 False NA ,,, NA NA NA 2504 0.0184 NA NA NA NA 0 T 593,3813 261.3+/-264.2 38,517,1648 113 110 111 282 -2.8 0 6 dbSNP_116 111 25,8575 16.6+/-54.9 0,25,4275 no coding-synonymous TXLNB NM_153235.3 38,542,5923 CC,CT,TT 0.2907,13.4589,4.7517 94/685 139609755 618,12388 2203 4300 6503 SO:0001819 synonymous_variant CCDS34545.1 6q23.3 2008-02-05 2005-07-29 2005-07-29 ENSG00000164440 ENSG00000164440 167838 21617 protein-coding gene gene with protein product 611438 chromosome 6 open reading frame 198 C6orf198 NA 15184072 Standard NM_153235 NM_153235 NA Approved DKFZp451A175, MDP77, dJ522B19.2 uc021zfy.1 Q8N3L3 OTTHUMG00000015688 ENST00000358430.3:c.282A>G chr6.hg19:g.139609755T>C NA Q5VTF3|Q76L25|Q86T52|Q8N3S2 hg19 CCDS34545.1 0.02 12.19859 AGGxGAT COVERED NOVEL TXLNB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000042458.1 1 34.600406 KEEP 0 0 0 115 3571 TT 1 1 0 - 11 60 403 0 0 25.451587 267 60 9486 469 ENST00000358430.3 0.039568 1 NMBR 4829 __UNKNOWN__ __UNKNOWN__ 6 142396790 142396790 __UNKNOWN__ Missense_Mutation SNP G G T rs7453944 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:142396790G>T ENST00000258042.1 - 3 1308 c.1168C>A c.(1168-1170)Ctg>Atg p.L390M NMBR_ENST00000480652.1_Intron NM_002511.2 NP_002502.2 P28336 NMBR_HUMAN neuromedin B receptor 390 NA L -> M (in dbSNP:rs7453944). {ECO:0000269|PubMed:1655761}. G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200) cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) bombesin receptor activity (GO:0004946) breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 Breast(32;0.155) OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013) CAAAATCACAGTGCCATTTCC 0.408 NA G||| 519 0.103634 0.1029 0.1974 5008 , , NA 19026 0.0903 NA 0.0855 False NA ,,, NA NA NA 2504 0.0706 NA NA NA NA 0 G MET/LEU 427,3979 207.8+/-229.1 21,385,1797 96 87 90 1168 3.4 1 6 dbSNP_116 90 675,7925 168.7+/-220.2 31,613,3656 yes missense NMBR NM_002511.2 15 52,998,5453 TT,TG,GG 7.8488,9.6913,8.473 probably-damaging 390/391 142396790 1102,11904 2203 4300 6503 SO:0001583 missense CCDS5196.1 6q24.1 2014-02-21 ENSG00000135577 ENSG00000135577 4829 GPCR / Class A : Bombesin receptors 7843 protein-coding gene gene with protein product bombesin receptor 1 162341 NA Standard NM_002511 NA Approved BB1 uc003qiu.3 P28336 OTTHUMG00000015704 ENST00000258042.1:c.1168C>A chr6.hg19:g.142396790G>T ENSP00000258042:p.Leu390Met NA E9KL38|Q5VUK8 hg19 CCDS5196.1 0.02 23.498555 ACAxTGC COVERED 213 0.09752747252747253 46 0.09349593495934959 56 0.15469613259668508 48 0.08391608391608392 63 0.08311345646437995 G 14.79 2.639964 0.47153 0.096913 0.078488 ENSG00000135577 ENST00000258042 T 0.69561 -0.41 5.27 3.42 0.39159 . 0.350783 0.26951 N 0.021672 T 0.54351 0.1853 L 0.36672 1.1 0.33081 P 0.463379 D 0.64830 0.994 P 0.58077 0.832 T 0.59658 -0.7413 9 0.59425 D 0.04 . 8.0562 0.30606 0.3558:0.0:0.6442:0.0 rs7453944;rs52789747;rs57078748;rs7453944 390 P28336 NMBR_HUMAN M 390 ENSP00000258042:L390M ENSP00000258042:L390M L - 1 2 NMBR 142438483 0.913000 0.31002 0.953000 0.39169 0.919000 0.55068 1.451000 0.35145 0.651000 0.30788 0.650000 0.86243 CTG NOVEL NMBR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000042479.1 4 16.855179 KEEP 0 0 0 56 2029 GG 1 1 0 - 15 60 537 0 1 30.853457 563 60 21410 787 ENST00000258042.1 0.025952 1 RP11-137J7.2 0 __UNKNOWN__ __UNKNOWN__ 6 142409969 142409969 __UNKNOWN__ RNA SNP G G A rs3811087 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:142409969G>A ENST00000454401.1 + 0 142 NA NA NA CTGGGGAGGGGTCTGTCCACA 0.532 NA G||| 388 0.077476 0.0068 0.1916 5008 , , NA 14793 0.0903 NA 0.0855 False NA ,,, NA NA NA 2504 0.0706 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000454401.1: chr6.hg19:g.142409969G>A NA hg19 0.02 6.287878 GGGxTCT COVERED NOVEL RP11-137J7.2-001 KNOWN basic antisense NA antisense OTTHUMT00000042481.1 0 7.522503 KEEP 0 0 0 25 875 GG 0.999931 0.999931 0 + 10 60 375 0 0 25.23822 181 60 6745 283 ENST00000454401.1 0.052356 1 VTA1 51534 __UNKNOWN__ __UNKNOWN__ 6 142541553 142541553 __UNKNOWN__ 3'UTR SNP T T C rs12665758 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:142541553T>C ENST00000367630.4 + 0 2755 NM_016485.3 NP_057569.2 Q9NP79 VTA1_HUMAN vesicle (multivesicular body) trafficking 1 NA NA endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032) cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 Breast(32;0.155) OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182) GGAGACAATATAGAAACTACG 0.453 NA T||| 590 0.117812 0.1467 0.196 5008 , , NA 17836 0.1062 NA 0.0815 False NA ,,, NA NA NA 2504 0.0726 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF060225 CCDS5197.1, CCDS69214.1, CCDS75531.1 6q24.1 2013-08-05 2013-08-05 2007-04-03 ENSG00000009844 ENSG00000009844 51534 20954 protein-coding gene gene with protein product 610902 chromosome 6 open reading frame 55, Vps20-associated 1 homolog (S. cerevisiae) C6orf55 NA 11489251, 15644320 Standard NM_016485 NM_001286372 NA Approved HSPC228, My012 uc003qiw.3 Q9NP79 OTTHUMG00000015707 ENST00000367630.4:c.*1773T>C chr6.hg19:g.142541553T>C NA B4DW55|E1P594|E7ETQ7|Q5TGM1|Q6IAE8|Q9H0R2|Q9H3K9|Q9P0Q0 hg19 CCDS5197.1 0.02 4.103477 ATAxAGA COVERED NOVEL VTA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000042483.2 2 8.725999 KEEP 0 0 0 29 896 TT 0.999997 0.999997 0 + 6 60 228 0 0 14.81547 139 60 5038 191 ENST00000367630.4 0.041379 1 GPR126 57211 __UNKNOWN__ __UNKNOWN__ 6 142703137 142703137 __UNKNOWN__ Silent SNP C C T rs2143390 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:142703137C>T ENST00000367609.3 + 5 1520 c.1119C>T c.(1117-1119)gaC>gaT p.D373D GPR126_ENST00000367608.2_Silent_p.D373D|GPR126_ENST00000230173.6_Silent_p.D373D|GPR126_ENST00000296932.8_Silent_p.D373D NM_198569.2 NP_940971 Q86SQ4 GP126_HUMAN G protein-coupled receptor 126 373 NA G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 Breast(32;0.176) OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121) GCTGTGCAGACCTGGGGACCC 0.448 NA C||| 497 0.0992412 0.0061 0.1095 5008 , , NA 17546 0.2619 NA 0.0815 False NA ,,, NA NA NA 2504 0.0685 NA NA NA NA 0 C ,,, 95,3685 1,93,1796 44 47 46 1119,1119,1119,1119 -11.7 0 6 dbSNP_96 46 675,7569 23,629,3470 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous GPR126 NM_001032394.2,NM_001032395.2,NM_020455.5,NM_198569.2 ,,, 24,722,5266 TT,TC,CC 8.1878,2.5132,6.4039 ,,, 373/1194,373/1223,373/1222,373/1251 142703137 770,11254 1890 4122 6012 SO:0001819 synonymous_variant AK027843 CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1 6q23.1-q24.3 2014-08-08 ENSG00000112414 ENSG00000112414 57211 -, GPCR / Class B : Orphans 13841 protein-coding gene gene with protein product 612243 NA 12565841 Standard NM_001032395 NA Approved FLJ14937 uc010khe.3 Q86SQ4 OTTHUMG00000015709 ENST00000367609.3:c.1119C>T chr6.hg19:g.142703137C>T NA Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0 hg19 CCDS47489.1 0.02 8.688528 AGAxCTG COVERED NOVEL GPR126-009 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000396706.1 1 10.228414 KEEP 0 0 0 34 1160 CC 0.999998 0.999998 0 + 9 60 325 0 0 20.841966 192 60 7150 287 ENST00000367609.3 0.044776 1 GPR126 57211 __UNKNOWN__ __UNKNOWN__ 6 142765405 142765405 __UNKNOWN__ 3'UTR SNP C C G rs2294773 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:142765405C>G ENST00000367609.3 + 0 4907 GPR126_ENST00000367608.2_3'UTR|GPR126_ENST00000230173.6_3'UTR|GPR126_ENST00000296932.8_3'UTR NM_198569.2 NP_940971 Q86SQ4 GP126_HUMAN G protein-coupled receptor 126 NA NA G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 Breast(32;0.176) OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121) TTCCATCATTCTGGACCTCCC 0.373 NA C||| 568 0.113419 0.059 0.1167 5008 , , NA 17001 0.2599 NA 0.0785 False NA ,,, NA NA NA 2504 0.0695 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK027843 CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1 6q23.1-q24.3 2014-08-08 ENSG00000112414 ENSG00000112414 57211 -, GPCR / Class B : Orphans 13841 protein-coding gene gene with protein product 612243 NA 12565841 Standard NM_001032395 NA Approved FLJ14937 uc010khe.3 Q86SQ4 OTTHUMG00000015709 ENST00000367609.3:c.*753C>G chr6.hg19:g.142765405C>G NA Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0 hg19 CCDS47489.1 0.02 4.829116 ATTxTGG COVERED NOVEL GPR126-009 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000396706.1 2 3.912672 KEEP 0 0 0 13 465 CC 0.994391 0.994391 0 + 6 60 233 0 0 15.371911 136 60 5138 186 ENST00000367609.3 0.042254 1 GPR126 57211 __UNKNOWN__ __UNKNOWN__ 6 142765465 142765465 __UNKNOWN__ 3'UTR SNP C C A rs2294774 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:142765465C>A ENST00000367609.3 + 0 4967 GPR126_ENST00000367608.2_3'UTR|GPR126_ENST00000230173.6_3'UTR|GPR126_ENST00000296932.8_3'UTR NM_198569.2 NP_940971 Q86SQ4 GP126_HUMAN G protein-coupled receptor 126 NA NA G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 Breast(32;0.176) OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121) TGCCCCTCTACTGTATATTAA 0.408 NA C||| 567 0.113219 0.059 0.1167 5008 , , NA 16931 0.2599 NA 0.0785 False NA ,,, NA NA NA 2504 0.0685 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK027843 CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1 6q23.1-q24.3 2014-08-08 ENSG00000112414 ENSG00000112414 57211 -, GPCR / Class B : Orphans 13841 protein-coding gene gene with protein product 612243 NA 12565841 Standard NM_001032395 NA Approved FLJ14937 uc010khe.3 Q86SQ4 OTTHUMG00000015709 ENST00000367609.3:c.*813C>A chr6.hg19:g.142765465C>A NA Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0 hg19 CCDS47489.1 0.02 4.35286 CTAxTGT COVERED NOVEL GPR126-009 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000396706.1 1 3.611966 KEEP 0 0 0 12 446 CC 0.993634 0.993633 0 + 5 60 189 0 0 12.119654 123 60 4680 164 ENST00000367609.3 0.039062 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 143381712 143381712 __UNKNOWN__ IGR SNP T T C rs3811093 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:143381712T>C NA NA RP1-45I4.3 (18251 upstream) : AIG1 (266 downstream) NA NA NA AGAGGTCGCATCCACACCTGG 0.692 NA C||| 1668 0.333067 0.385 0.2637 5008 , , NA 9404 0.499 NA 0.1123 False NA ,,, NA NA NA 2504 0.3681 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.143381712T>C NA hg19 0.02 6.475743 GCAxCCA COVERED NOVEL 0 0 57.769243 KEEP 0 0 0 192 5888 TT 1 1 0 9 60 324 0 0 21.161998 172 60 6246 468 0.049724 1 AIG1 51390 __UNKNOWN__ __UNKNOWN__ 6 143402263 143402263 __UNKNOWN__ Intron SNP C C T rs12664262 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:143402263C>T ENST00000357847.4 + 1 191 AIG1_ENST00000367598.5_Intron|AIG1_ENST00000494282.2_Intron|AIG1_ENST00000275235.4_Intron|AIG1_ENST00000344492.5_Intron NM_016108.2 NP_057192.2 Q9NVV5 AIG1_HUMAN androgen-induced 1 NA NA integral component of membrane (GO:0016021) endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(155;2.34e-05)|GBM - Glioblastoma multiforme(68;0.0246) gggacagtttcggattcttag 0.448 NA C||| 838 0.167332 0.0764 0.0274 5008 , , NA 21691 0.4167 NA 0.0368 False NA ,,, NA NA NA 2504 0.2669 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF153605 CCDS5198.1, CCDS69216.1 6q24.1 2008-02-05 ENSG00000146416 ENSG00000146416 51390 21607 protein-coding gene gene with protein product 608514 NA 11266118 Standard NM_016108 NM_001286587 NA Approved dJ95L4.1, AIG-1, FLJ10485 uc003qjh.3 Q9NVV5 OTTHUMG00000015721 ENST00000357847.4:c.141+20060C>T chr6.hg19:g.143402263C>T NA B4DPX2|C9J569|Q5T2H2|Q6N047|Q7Z378|Q8TB14|Q9Y3A9|Q9Y5B4 hg19 CCDS5198.1 0.02 6.927544 TTTxGGA COVERED NOVEL AIG1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000042506.1 2 9.630061 KEEP 0 0 0 32 1075 CC 0.999997 0.999997 0 + 15 60 565 0 0 41.430313 160 60 5592 246 ENST00000357847.4 0.085714 1 UTRN 7402 __UNKNOWN__ __UNKNOWN__ 6 144758799 144758799 __UNKNOWN__ Silent SNP A A G rs4895642 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:144758799A>G ENST00000367545.3 + 10 1158 c.1158A>G c.(1156-1158)gaA>gaG p.E386E NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 386 Interaction with SYNM. NA aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649) cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383) actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270) p.E386E(1) NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) CAGACGAAGAAGAATTTGAGA 0.512 NA G||| 2327 0.464657 0.795 0.562 5008 , , NA 19112 0.4365 NA 0.2237 False NA ,,, NA NA NA 2504 0.226 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) G 3108,1298 437.6+/-345.0 1098,912,193 109 98 102 1158 1.1 1 6 dbSNP_111 102 2096,6504 717.8+/-406.2 255,1586,2459 yes coding-synonymous UTRN NM_007124.2 1353,2498,2652 GG,GA,AA 24.3721,29.4598,40.0123 386/3434 144758799 5204,7802 2203 4300 6503 SO:0001819 synonymous_variant AK023675 CCDS34547.1 6q24 2008-02-05 2006-12-13 ENSG00000152818 ENSG00000152818 7402 12635 protein-coding gene gene with protein product 128240 utrophin (homologous to dystrophin) DMDL NA 1426262 Standard NM_007124 NA Approved DRP, DRP1 uc003qkt.3 P46939 OTTHUMG00000015746 ENST00000367545.3:c.1158A>G chr6.hg19:g.144758799A>G NA Q5SYY1|Q5SZ57|Q9UJ40 hg19 CCDS34547.1 0.02 9.223985 AGAxGAA COVERED NOVEL UTRN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000042551.1 1 14.779159 KEEP 0 1 34 61 1909 AA 1 1 0 + 13 60 482 0 0 32.68024 218 60 8123 345 ENST00000367545.3 0.056277 1 UTRN 7402 __UNKNOWN__ __UNKNOWN__ 6 144761429 144761429 __UNKNOWN__ Intron SNP G G A rs4609044 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:144761429G>A ENST00000367545.3 + 12 1392 NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin NA NA aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649) cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383) actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270) NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) AACTGAGTGCGTTTTAAATAG 0.299 NA A||| 2123 0.423922 0.7935 0.4986 5008 , , NA 22306 0.2937 NA 0.2207 False NA ,,, NA NA NA 2504 0.2147 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK023675 CCDS34547.1 6q24 2008-02-05 2006-12-13 ENSG00000152818 ENSG00000152818 7402 12635 protein-coding gene gene with protein product 128240 utrophin (homologous to dystrophin) DMDL NA 1426262 Standard NM_007124 NA Approved DRP, DRP1 uc003qkt.3 P46939 OTTHUMG00000015746 ENST00000367545.3:c.1393-59G>A chr6.hg19:g.144761429G>A NA Q5SYY1|Q5SZ57|Q9UJ40 hg19 CCDS34547.1 0.02 1.754649 TGCxTTT COVERED NOVEL UTRN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000042551.1 1 2.407325 KEEP 0 0 0 8 251 GG 0.99257 0.99249 0 + 4 60 145 0 0 9.227774 90 60 2912 103 ENST00000367545.3 0.042553 0.999919 UTRN 7402 __UNKNOWN__ __UNKNOWN__ 6 144869785 144869785 __UNKNOWN__ Missense_Mutation SNP A A G rs1534443 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:144869785A>G ENST00000367545.3 + 46 6605 c.6605A>G c.(6604-6606)aAt>aGt p.N2202S NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 2202 NA N -> S (in dbSNP:rs1534443). aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649) cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383) actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270) NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) GCTCATCCTAATGTCCAAAAG 0.353 NA G||| 1868 0.373003 0.3328 0.2147 5008 , , NA 18651 0.5952 NA 0.2515 False NA ,,, NA NA NA 2504 0.4356 NA NA NA NA 0 G SER/ASN 1311,3095 696.2+/-406.1 194,923,1086 76 72 73 6605 -6.3 0 6 dbSNP_88 73 2016,6584 719.8+/-406.3 249,1518,2533 yes missense UTRN NM_007124.2 46 443,2441,3619 GG,GA,AA 23.4419,29.7549,25.5805 benign 2202/3434 144869785 3327,9679 2203 4300 6503 SO:0001583 missense AK023675 CCDS34547.1 6q24 2008-02-05 2006-12-13 ENSG00000152818 ENSG00000152818 7402 12635 protein-coding gene gene with protein product 128240 utrophin (homologous to dystrophin) DMDL NA 1426262 Standard NM_007124 NA Approved DRP, DRP1 uc003qkt.3 P46939 OTTHUMG00000015746 ENST00000367545.3:c.6605A>G chr6.hg19:g.144869785A>G ENSP00000356515:p.Asn2202Ser NA Q5SYY1|Q5SZ57|Q9UJ40 hg19 CCDS34547.1 0.02 2.015582 CTAxTGT COVERED 781 0.3576007326007326 161 0.32723577235772355 86 0.23756906077348067 352 0.6153846153846154 182 0.24010554089709762 G 2.009 -0.427481 0.04701 0.297549 0.234419 ENSG00000152818 ENST00000367545 T 0.58358 0.34 5.38 -6.34 0.01982 . 1.235210 0.05557 N 0.568514 T 0.05181 0.0138 N 0.04508 -0.205 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.05194 -1.0900 9 0.05525 T 0.97 . 2.0573 0.03584 0.3677:0.3206:0.0947:0.217 rs1534443;rs52835913;rs58543842;rs1534443 2202 P46939 UTRO_HUMAN S 2202 ENSP00000356515:N2202S ENSP00000356515:N2202S N + 2 0 UTRN 144911478 0.000000 0.05858 0.000000 0.03702 0.883000 0.51084 -0.108000 0.10857 -1.221000 0.02591 -0.954000 0.02651 AAT NOVEL UTRN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000042551.1 0 3.61109 KEEP 0 0 0 12 388 AA 0.993634 0.993403 0 + 4 60 150 0 0 9.844234 84 60 2960 107 ENST00000367545.3 0.045455 0.999768 UTRN 7402 __UNKNOWN__ __UNKNOWN__ 6 144870040 144870040 __UNKNOWN__ Intron SNP T T C rs1534442 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:144870040T>C ENST00000367545.3 + 46 6810 NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin NA NA aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649) cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383) actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270) NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) AACCCAGAGGTAGACCAGATC 0.403 NA T||| 1856 0.370607 0.3238 0.2147 5008 , , NA 19070 0.5952 NA 0.2515 False NA ,,, NA NA NA 2504 0.4356 NA NA NA NA 0 T 1291,3115 418.0+/-338.2 189,913,1101 39 36 37 -3.5 0 6 dbSNP_88 37 2016,6582 332.7+/-320.2 248,1520,2531 no intron UTRN NM_007124.2 437,2433,3632 CC,CT,TT 23.4473,29.301,25.4306 144870040 3307,9697 2203 4299 6502 SO:0001627 intron_variant AK023675 CCDS34547.1 6q24 2008-02-05 2006-12-13 ENSG00000152818 ENSG00000152818 7402 12635 protein-coding gene gene with protein product 128240 utrophin (homologous to dystrophin) DMDL NA 1426262 Standard NM_007124 NA Approved DRP, DRP1 uc003qkt.3 P46939 OTTHUMG00000015746 ENST00000367545.3:c.6810+50T>C chr6.hg19:g.144870040T>C NA Q5SYY1|Q5SZ57|Q9UJ40 hg19 CCDS34547.1 0.02 4.682949 AGGxAGA COVERED NOVEL UTRN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000042551.1 0 10.833225 KEEP 0 0 0 36 1144 TT 0.999999 0.999999 0 + 5 60 196 0 0 12.686468 131 60 4576 198 ENST00000367545.3 0.036765 1 SHPRH 257218 __UNKNOWN__ __UNKNOWN__ 6 146243916 146243916 __UNKNOWN__ Missense_Mutation SNP T T C rs118070529 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:146243916T>C ENST00000367505.2 - 19 3866 c.3602A>G c.(3601-3603)aAt>aGt p.N1201S SHPRH_ENST00000367503.3_Missense_Mutation_p.N1205S|SHPRH_ENST00000438092.2_Missense_Mutation_p.N1205S|SHPRH_ENST00000275233.7_Missense_Mutation_p.N1201S Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase 1201 NA DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209) nucleosome (GO:0000786)|nucleus (GO:0005634) ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1) 79 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) CTGGCATTTATTTAGCTCTTC 0.443 NA T||| 130 0.0259585 0.0 0.0 5008 , , NA 16202 0.126 NA 0.0 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 T SER/ASN,SER/ASN 0,3730 0,0,1865 86 82 83 3602,3614 1.7 0.2 6 dbSNP_132 83 3,8205 0,3,4101 yes missense,missense SHPRH NM_001042683.2,NM_173082.3 46,46 0,3,5966 CC,CT,TT 0.0365,0.0,0.0251 benign,benign 1201/1684,1205/1660 146243916 3,11935 1865 4104 5969 SO:0001583 missense AB095943 CCDS43513.1, CCDS47496.1, CCDS43513.2 6q24.2 2012-02-23 2012-02-23 ENSG00000146414 ENSG00000146414 257218 RING-type (C3HC4) zinc fingers 19336 protein-coding gene gene with protein product 608048 SNF2 histone linker PHD RING helicase NA 12837266 Standard NM_173082 NM_001042683 NA Approved FLJ90837, KIAA2023, bA545I5.2 uc003qlf.3 Q149N8 OTTHUMG00000015750 ENST00000367505.2:c.3602A>G chr6.hg19:g.146243916T>C ENSP00000356475:p.Asn1201Ser NA Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7 hg19 CCDS43513.2 0.02 19.364696 TTAxTTA COVERED 56 0.02564102564102564 0 0.0 0 0.0 56 0.0979020979020979 0 0.0 T 7.347 0.622055 0.14193 0.0 3.65E-4 ENSG00000146414 ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233 T;T;T;T 0.72725 -0.68;-0.68;-0.67;-0.68 5.44 1.73 0.24493 . 0.759348 0.12597 N 0.455082 T 0.22627 0.0546 N 0.08118 0 0.19945 N 0.999944 B;B;B 0.02656 0.0;0.0;0.0 B;B;B 0.04013 0.0;0.0;0.001 T 0.30563 -0.9974 10 0.12430 T 0.62 -5.2444 9.3157 0.37932 0.0:0.1717:0.0:0.8283 . 400;1201;1205 B3KX98;Q149N8;Q149N8-4 .;SHPRH_HUMAN;. S 1201;1205;1205;1201 ENSP00000356475:N1201S;ENSP00000356473:N1205S;ENSP00000412797:N1205S;ENSP00000275233:N1201S ENSP00000275233:N1201S N - 2 0 SHPRH 146285609 0.998000 0.40836 0.161000 0.22692 0.982000 0.71751 1.368000 0.34216 0.116000 0.18110 0.528000 0.53228 AAT NOVEL SHPRH-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000042571.2 2 21.344225 KEEP 0 0 0 71 2258 TT 1 1 0 - 11 60 437 0 0 27.052794 391 60 14550 610 ENST00000367505.2 0.027363 1 GRM1 2911 __UNKNOWN__ __UNKNOWN__ 6 146719883 146719883 __UNKNOWN__ Intron SNP C C A rs362856 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:146719883C>A ENST00000282753.1 + 7 1964 GRM1_ENST00000392299.2_Intron|GRM1_ENST00000361719.2_Intron|GRM1_ENST00000507907.1_Intron|GRM1_ENST00000492807.2_Intron|GRM1_ENST00000355289.4_Intron Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 NA NA activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268) dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069) G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066) NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) GATTCATGCTCAAATGATTTT 0.423 NA A||| 1067 0.213059 0.4637 0.0692 5008 , , NA 21380 0.2738 NA 0.0467 False NA ,,, NA NA NA 2504 0.0849 NA NA NA NA 0 A , 1751,2655 646.4+/-398.4 342,1067,794 117 114 115 , 0.6 0 6 dbSNP_79 115 296,8304 806.3+/-407.2 3,290,4007 no intron,intron GRM1 NM_000838.3,NM_001114329.1 , 345,1357,4801 AA,AC,CC 3.4419,39.7413,15.7389 , , 146719883 2047,10959 2203 4300 6503 SO:0001627 intron_variant U31215 CCDS5209.1, CCDS47497.1, CCDS64548.1 6q24 2014-06-12 ENSG00000152822 ENSG00000152822 2911 GPCR / Class C : Glutamate receptors, metabotropic, Glutamate receptors 4593 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 85 604473 NA 9076744, 9376535 Standard NM_000838 NM_001278064 NA Approved GPRC1A, mGlu1, MGLUR1, PPP1R85 uc010khw.2 Q13255 OTTHUMG00000015752 ENST00000282753.1:c.1730-22C>A chr6.hg19:g.146719883C>A NA B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0 hg19 CCDS5209.1 0.02 14.416495 GCTxAAA COVERED NOVEL GRM1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000042574.1 2 10.534315 KEEP 0 0 0 35 1251 CC 0.999999 0.999999 0 + 10 60 369 0 0 21.385598 389 60 14858 497 ENST00000282753.1 0.025063 1 ADGB 79747 __UNKNOWN__ __UNKNOWN__ 6 147022047 147022047 __UNKNOWN__ Intron SNP C C T rs73571703 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:147022047C>T ENST00000397944.3 + 13 1653 ADGB_ENST00000367493.3_Intron NM_024694.3 NP_078970.3 Q8N7X0 ADGB_HUMAN androglobin NA NA oxygen transport (GO:0015671)|proteolysis (GO:0006508) cytoplasm (GO:0005737) calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825) breast(1)|endometrium(2)|kidney(2) 5 ATCAAAATAACAGAAGTTTGG 0.323 NA C||| 369 0.0736821 0.2595 0.0231 5008 , , NA 16603 0.005 NA 0.002 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 C 286,1098 32,222,438 180 176 177 -0.5 0 6 dbSNP_130 177 6,3176 0,6,1585 no intron C6orf103 NM_024694.3 32,228,2023 TT,TC,CC 0.1886,20.6647,6.3951 147022047 292,4274 692 1591 2283 SO:0001627 intron_variant AK026774 6q24.2 2012-02-03 2012-02-03 2012-02-03 ENSG00000118492 ENSG00000118492 79747 21212 protein-coding gene gene with protein product 614630 chromosome 6 open reading frame 103 C6orf103 NA 22115833 Standard NM_024694 NM_024694 NA Approved FLJ23121, dJ408K24.1 uc010khx.3 Q8N7X0 OTTHUMG00000015758 ENST00000397944.3:c.1578-30C>T chr6.hg19:g.147022047C>T NA Q5T402|Q5T904|Q5T905 hg19 0.02 8.232545 TAAxAGA COVERED NOVEL ADGB-009 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000376350.2 2 6.018662 KEEP 0 0 0 20 690 CC 0.999863 0.999863 0 + 11 60 400 0 0 26.314557 208 60 7624 266 ENST00000397944.3 0.050228 1 ADGB 79747 __UNKNOWN__ __UNKNOWN__ 6 147109492 147109492 __UNKNOWN__ Intron SNP A A G rs182967116 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:147109492A>G ENST00000397944.3 + 33 4391 ADGB_ENST00000367488.1_Intron|ADGB_ENST00000367493.3_Intron NM_024694.3 NP_078970.3 Q8N7X0 ADGB_HUMAN androglobin NA NA oxygen transport (GO:0015671)|proteolysis (GO:0006508) cytoplasm (GO:0005737) calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825) breast(1)|endometrium(2)|kidney(2) 5 atggaacgccagctttttcag 0.428 NA A||| 12 0.00239617 0.0 0.0 5008 , , NA 20462 0.0069 NA 0.0 False NA ,,, NA NA NA 2504 0.0051 NA NA NA NA 0 86 78 80 NA NA 6 NA 147109492 692 1591 2283 SO:0001627 intron_variant AK026774 6q24.2 2012-02-03 2012-02-03 2012-02-03 ENSG00000118492 ENSG00000118492 79747 21212 protein-coding gene gene with protein product 614630 chromosome 6 open reading frame 103 C6orf103 NA 22115833 Standard NM_024694 NM_024694 NA Approved FLJ23121, dJ408K24.1 uc010khx.3 Q8N7X0 OTTHUMG00000015758 ENST00000397944.3:c.4316-33A>G chr6.hg19:g.147109492A>G NA Q5T402|Q5T904|Q5T905 hg19 0.02 5.871311 GCCxGCT COVERED NOVEL ADGB-009 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000376350.2 0 8.124998 KEEP 0 0 0 27 861 AA 0.999988 0.999988 0 + 7 60 240 0 0 14.902665 151 60 5562 210 ENST00000397944.3 0.044304 1 ZC3H12D 340152 __UNKNOWN__ __UNKNOWN__ 6 149773721 149773721 __UNKNOWN__ Intron SNP C C G rs1001242 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:149773721C>G ENST00000409806.3 - 5 1106 ZC3H12D_ENST00000389942.5_Intron|ZC3H12D_ENST00000416573.2_Intron|ZC3H12D_ENST00000542614.1_Intron A2A288 ZC12D_HUMAN zinc finger CCCH-type containing 12D NA NA negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134) cytoplasm (GO:0005737)|nucleus (GO:0005634) endonuclease activity (GO:0004519)|metal ion binding (GO:0046872) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1) 6 Ovarian(120;0.0907) OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921) AGGCCCTGAACAGGGCCTGCG 0.627 NA C||| 1652 0.329872 0.1467 0.3847 5008 , , NA 17003 0.7589 NA 0.1412 False NA ,,, NA NA NA 2504 0.2904 NA NA NA NA 0 C 576,3226 42,492,1367 21 24 23 -2.1 0 6 dbSNP_86 23 1137,7079 84,969,3055 no intron ZC3H12D NM_207360.2 126,1461,4422 GG,GC,CC 13.8389,15.1499,14.2536 149773721 1713,10305 1901 4108 6009 SO:0001627 intron_variant 6q25.1 2012-07-05 2005-06-30 2005-06-30 ENSG00000178199 ENSG00000178199 340152 Zinc fingers, CCCH-type domain containing 21175 protein-coding gene gene with protein product MCP induced protein 4 611106 chromosome 6 open reading frame 95 C6orf95 NA 18178554 Standard NM_207360 NM_207360 NA Approved dJ281H8.1, MCPIP4 uc010kid.3 A2A288 OTTHUMG00000015786 ENST00000409806.3:c.787+30G>C chr6.hg19:g.149773721C>G NA A1L178|B2RXF4|B7WNU7|B9ZZP9|B9ZZQ0|Q6ZRW2 hg19 0.02 6.446192 GAAxAGG COVERED NOVEL ZC3H12D-003 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000286400.2 1 22.572542 KEEP 0 0 0 75 2598 CC 1 1 0 - 6 60 220 0 0 13.550805 167 60 6187 307 ENST00000409806.3 0.034682 1 ZC3H12D 340152 __UNKNOWN__ __UNKNOWN__ 6 149795692 149795692 __UNKNOWN__ 5'UTR SNP G G A rs556775 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:149795692G>A ENST00000409948.1 - 0 140 ZC3H12D_ENST00000409806.3_5'UTR|ZC3H12D_ENST00000389942.5_5'UTR|ZC3H12D_ENST00000416573.2_5'UTR|ZC3H12D_ENST00000542614.1_5'UTR A2A288 ZC12D_HUMAN zinc finger CCCH-type containing 12D NA NA negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134) cytoplasm (GO:0005737)|nucleus (GO:0005634) endonuclease activity (GO:0004519)|metal ion binding (GO:0046872) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1) 6 Ovarian(120;0.0907) OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921) TGTGCCCAGCGGCCACTGGCG 0.592 NA G||| 1548 0.309105 0.0734 0.3775 5008 , , NA 17405 0.752 NA 0.1441 False NA ,,, NA NA NA 2504 0.2924 NA NA NA NA 0 A 247,3735 4,239,1748 10 11 11 -3.2 0 6 dbSNP_83 11 958,7370 49,860,3255 no utr-5 ZC3H12D NM_207360.2 53,1099,5003 AA,AG,GG 11.5034,6.2029,9.7888 149795692 1205,11105 1991 4164 6155 SO:0001623 5_prime_UTR_variant 6q25.1 2012-07-05 2005-06-30 2005-06-30 ENSG00000178199 ENSG00000178199 340152 Zinc fingers, CCCH-type domain containing 21175 protein-coding gene gene with protein product MCP induced protein 4 611106 chromosome 6 open reading frame 95 C6orf95 NA 18178554 Standard NM_207360 NM_207360 NA Approved dJ281H8.1, MCPIP4 uc010kid.3 A2A288 OTTHUMG00000015786 ENST00000409948.1:c.-13C>T chr6.hg19:g.149795692G>A NA A1L178|B2RXF4|B7WNU7|B9ZZP9|B9ZZQ0|Q6ZRW2 hg19 0.02 11.411908 AGCxGCC COVERED NOVEL ZC3H12D-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000042640.2 2 15.951447 KEEP 0 0 0 53 1833 GG 1 1 0 - 9 60 341 0 0 21.509285 245 60 8626 356 ENST00000409948.1 0.035433 1 ULBP2 80328 __UNKNOWN__ __UNKNOWN__ 6 150266578 150266578 __UNKNOWN__ Silent SNP T T C rs149454018 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:150266578T>C ENST00000367351.3 + 2 292 c.219T>C c.(217-219)ccT>ccC p.P73P NM_025217.2 NP_079493.1 Q9BZM5 N2DL2_HUMAN UL16 binding protein 2 73 MHC class I alpha-1 like. NA antigen processing and presentation (GO:0019882)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267) anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular space (GO:0005615) natural killer cell lectin-like receptor binding (GO:0046703) breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1) 10 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;2.58e-12) CAGTCACACCTGTCAGTCCCC 0.512 NA N||| 127 0.0253594 0.0847 0.0072 5008 , , NA 24633 0.0079 NA 0.0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 274 264 267 NA NA 6 NA 150266578 2201 4300 6501 SO:0001819 synonymous_variant AF304378 CCDS5222.1 6q25 2008-04-11 ENSG00000131015 ENSG00000131015 80328 14894 protein-coding gene gene with protein product 605698 NA 11239445 Standard NM_025217 NA Approved RAET1H uc003qno.3 Q9BZM5 OTTHUMG00000015803 ENST00000367351.3:c.219T>C chr6.hg19:g.150266578T>C NA Q5VUN4 hg19 CCDS5222.1 0.02 3.912102 ACCxGTC COVERED NOVEL ULBP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000042669.1 1 2.407276 KEEP 10 0 0 8 251 TT 0.99257 0.992563 0 + 7 25 249 0 0 16.92918 103 60 3790 134 ENST00000367351.3 0.063636 0.999993 PLEKHG1 57480 __UNKNOWN__ __UNKNOWN__ 6 151161018 151161018 __UNKNOWN__ Silent SNP A A G rs17348890 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:151161018A>G ENST00000358517.2 + 16 3355 c.3144A>G c.(3142-3144)agA>agG p.R1048R PLEKHG1_ENST00000367328.1_Silent_p.R1048R Q9ULL1 PKHG1_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 1 1048 NA Rho guanyl-nucleotide exchange factor activity (GO:0005089) breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3) 53 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) TTGTATTCAGAGAGTCTCCCT 0.478 NA A||| 638 0.127396 0.0348 0.2133 5008 , , NA 18591 0.1071 NA 0.1461 False NA ,,, NA NA NA 2504 0.1933 NA NA NA NA 0 A 256,4150 146.1+/-180.8 2,252,1949 78 81 80 3144 2.2 1 6 dbSNP_123 80 1406,7194 271.7+/-289.7 138,1130,3032 yes coding-synonymous PLEKHG1 NM_001029884.1 140,1382,4981 GG,GA,AA 16.3488,5.8103,12.7787 1048/1386 151161018 1662,11344 2203 4300 6503 SO:0001819 synonymous_variant AB033035 CCDS34552.1 6q25.1 2013-01-11 ENSG00000120278 ENSG00000120278 57480 Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing 20884 protein-coding gene gene with protein product NA 10574462 Standard XM_005267064 NA Approved KIAA1209, ARHGEF41 uc003qny.1 Q9ULL1 OTTHUMG00000015824 ENST00000358517.2:c.3144A>G chr6.hg19:g.151161018A>G NA Q5T1F2 hg19 CCDS34552.1 0.02 4.101972 CAGxGAG COVERED NOVEL PLEKHG1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000042691.1 0 7.509688 KEEP 0 0 0 25 787 AA 0.999931 0.999931 0 + 6 60 214 0 0 13.631888 128 60 4561 193 ENST00000358517.2 0.044776 1 MTHFD1L 25902 __UNKNOWN__ __UNKNOWN__ 6 151256595 151256595 __UNKNOWN__ Intron SNP T T C rs9767752 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:151256595T>C ENST00000367321.3 + 12 1530 NM_001242767.1|NM_001242768.1|NM_015440.4 NP_001229696.1|NP_001229697.1|NP_056255.2 Q6UB35 C1TM_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like NA NA folic acid-containing compound biosynthetic process (GO:0009396)|folic acid-containing compound metabolic process (GO:0006760)|formate metabolic process (GO:0015942)|one-carbon metabolic process (GO:0006730)|oxidation-reduction process (GO:0055114)|tetrahydrofolate interconversion (GO:0035999)|tetrahydrofolate metabolic process (GO:0046653) membrane (GO:0016020)|mitochondrion (GO:0005739) ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|protein homodimerization activity (GO:0042803) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2) 29 Ovarian(120;0.128) OV - Ovarian serous cystadenocarcinoma(155;8.7e-12) TTGGCATTTGTAGCCTACCTG 0.383 NA C||| 2726 0.544329 0.739 0.4467 5008 , , NA 20023 0.5486 NA 0.333 False NA ,,, NA NA NA 2504 0.5634 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC017477 CCDS5228.1, CCDS56457.1, CCDS75535.1, CCDS75536.1 6q25.1 2010-07-19 2004-12-13 2004-12-14 ENSG00000120254 ENSG00000120254 25902 6.3.4.3 21055 protein-coding gene gene with protein product 10-formyl-THF synthetase, mitochondrial C1-tetrahydrofolate synthase, monofunctional C1-tetrahydrofolate synthase, mitochondrial 611427 formyltetrahydrofolate synthetase domain containing 1 FTHFSDC1 NA 18804703 Standard NM_015440 NM_015440 NA Approved DKFZP586G1517, FLJ21145 uc021zgs.1 Q6UB35 OTTHUMG00000015828 ENST00000367321.3:c.1257-1345T>C chr6.hg19:g.151256595T>C NA Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8 hg19 CCDS5228.1 0.02 9.146888 TTGxAGC COVERED NOVEL MTHFD1L-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000042699.1 1 16.242952 KEEP 0 0 0 54 1601 TT 1 1 0 + 13 60 493 0 0 34.141299 204 60 7339 338 ENST00000367321.3 0.059908 1 MTHFD1L 25902 __UNKNOWN__ __UNKNOWN__ 6 151336739 151336739 __UNKNOWN__ Silent SNP C C G rs509474 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:151336739C>G ENST00000367321.3 + 24 2770 c.2496C>G c.(2494-2496)tcC>tcG p.S832S NM_001242767.1|NM_001242768.1|NM_015440.4 NP_001229696.1|NP_001229697.1|NP_056255.2 Q6UB35 C1TM_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like 832 Formyltetrahydrofolate synthetase. NA folic acid-containing compound biosynthetic process (GO:0009396)|folic acid-containing compound metabolic process (GO:0006760)|formate metabolic process (GO:0015942)|one-carbon metabolic process (GO:0006730)|oxidation-reduction process (GO:0055114)|tetrahydrofolate interconversion (GO:0035999)|tetrahydrofolate metabolic process (GO:0046653) membrane (GO:0016020)|mitochondrion (GO:0005739) ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|protein homodimerization activity (GO:0042803) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2) 29 Ovarian(120;0.128) OV - Ovarian serous cystadenocarcinoma(155;8.7e-12) ATCACTGGTCCGTTGGTGGAA 0.527 NA G||| 2856 0.570288 0.8585 0.4726 5008 , , NA 17253 0.6766 NA 0.4374 False NA ,,, NA NA NA 2504 0.2771 NA NA NA NA 0 G ,, 3504,902 349.3+/-310.3 1396,712,95 141 126 131 2499,2301,2496 -7.9 0 6 dbSNP_83 131 3846,4754 610.3+/-395.7 862,2122,1316 no coding-synonymous,coding-synonymous,coding-synonymous MTHFD1L NM_001242767.1,NM_001242768.1,NM_015440.4 ,, 2258,2834,1411 GG,GC,CC 44.7209,20.4721,43.4876 ,, 833/980,767/914,832/979 151336739 7350,5656 2203 4300 6503 SO:0001819 synonymous_variant BC017477 CCDS5228.1, CCDS56457.1, CCDS75535.1, CCDS75536.1 6q25.1 2010-07-19 2004-12-13 2004-12-14 ENSG00000120254 ENSG00000120254 25902 6.3.4.3 21055 protein-coding gene gene with protein product 10-formyl-THF synthetase, mitochondrial C1-tetrahydrofolate synthase, monofunctional C1-tetrahydrofolate synthase, mitochondrial 611427 formyltetrahydrofolate synthetase domain containing 1 FTHFSDC1 NA 18804703 Standard NM_015440 NM_015440 NA Approved DKFZP586G1517, FLJ21145 uc021zgs.1 Q6UB35 OTTHUMG00000015828 ENST00000367321.3:c.2496C>G chr6.hg19:g.151336739C>G NA Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8 hg19 CCDS5228.1 0.02 16.083458 GTCxGTT COVERED NOVEL MTHFD1L-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000042699.1 2 37.480892 KEEP 0 2 64 147 4837 CC 1 1 0 + 12 60 449 0 0 27.833507 345 60 11635 612 ENST00000367321.3 0.033613 1 C6orf211 79624 __UNKNOWN__ __UNKNOWN__ 6 151789709 151789709 __UNKNOWN__ Missense_Mutation SNP A A G rs35989216 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:151789709A>G ENST00000367294.3 + 5 1049 c.790A>G c.(790-792)Ata>Gta p.I264V C6orf211_ENST00000545879.1_Missense_Mutation_p.I145V NM_024573.1 NP_078849.1 Q9H993 CF211_HUMAN chromosome 6 open reading frame 211 264 NA I -> V (in dbSNP:rs35989216). breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7) 15 BRCA - Breast invasive adenocarcinoma(37;0.183) OV - Ovarian serous cystadenocarcinoma(155;5.27e-11) TACAGATTTAATATTAGCCGA 0.343 NA A||| 89 0.0177716 0.0 0.0274 5008 , , NA 19383 0.0198 NA 0.0398 False NA ,,, NA NA NA 2504 0.0102 NA NA NA NA 0 A VAL/ILE 38,4368 43.1+/-76.7 0,38,2165 133 138 137 790 2.2 0 6 dbSNP_126 137 295,8305 107.6+/-168.3 6,283,4011 yes missense C6orf211 NM_024573.1 29 6,321,6176 GG,GA,AA 3.4302,0.8625,2.5604 benign 264/442 151789709 333,12673 2203 4300 6503 SO:0001583 missense AJ420548 CCDS5233.1, CCDS69224.1 6q25.1 2013-01-07 ENSG00000146476 ENSG00000146476 79624 17872 protein-coding gene gene with protein product NA Standard NM_024573 NM_001286562 NA Approved FLJ12910 uc003qok.1 Q9H993 OTTHUMG00000015838 ENST00000367294.3:c.790A>G chr6.hg19:g.151789709A>G ENSP00000356263:p.Ile264Val NA Q96FC6|Q9UFY5 hg19 CCDS5233.1 0.02 9.590204 TTAxTAT COVERED 56 0.02564102564102564 0 0.0 7 0.019337016574585635 18 0.03146853146853147 31 0.040897097625329816 A 1.953 -0.440700 0.04636 0.008625 0.034302 ENSG00000146476 ENST00000367294;ENST00000545879 T;T 0.08282 3.11;3.11 6.02 2.22 0.28083 Domain of unknown function DUF89 (2); 0.119027 0.56097 N 0.000030 T 0.00754 0.0025 N 0.01493 -0.835 0.34911 D 0.747499 B 0.02656 0.0 B 0.09377 0.004 T 0.48422 -0.9037 10 0.02654 T 1 . 12.2251 0.54455 0.214:0.0:0.786:0.0 rs35989216 264 Q9H993 CF211_HUMAN V 264;145 ENSP00000356263:I264V;ENSP00000444121:I145V ENSP00000356263:I264V I + 1 0 C6orf211 151831402 1.000000 0.71417 0.018000 0.16275 0.800000 0.45204 3.948000 0.56660 0.114000 0.18032 -0.274000 0.10170 ATA NOVEL C6orf211-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000042724.1 1 10.229119 KEEP 0 0 0 34 1056 AA 0.999998 0.999998 0 + 7 60 272 0 0 17.200823 204 60 7504 289 ENST00000367294.3 0.033175 1 ESR1 2099 __UNKNOWN__ __UNKNOWN__ 6 152421130 152421130 __UNKNOWN__ 3'UTR SNP T T C rs3798577 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:152421130T>C ENST00000206249.3 + 0 3179 ESR1_ENST00000440973.1_3'UTR|ESR1_ENST00000456483.2_3'UTR|ESR1_ENST00000427531.2_Intron|ESR1_ENST00000443427.1_3'UTR NM_000125.3 NP_000116.2 P03372 ESR1_HUMAN estrogen receptor 1 NA NA androgen metabolic process (GO:0008209)|antral ovarian follicle growth (GO:0001547)|cellular response to estradiol stimulus (GO:0071392)|chromatin remodeling (GO:0006338)|epithelial cell development (GO:0002064)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|gene expression (GO:0010467)|intracellular estrogen receptor signaling pathway (GO:0030520)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|male gonad development (GO:0008584)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of gene expression (GO:0010629)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)|vagina development (GO:0060068) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcriptionally active chromatin (GO:0035327) beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0038052)|identical protein binding (GO:0042802)|nitric-oxide synthase regulator activity (GO:0030235)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1) 49 Ovarian(120;0.0448) BRCA - Breast invasive adenocarcinoma(37;0.0841) OV - Ovarian serous cystadenocarcinoma(155;4.55e-10) Allylestrenol(DB01431)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Estropipate(DB04574)|Ethinyl Estradiol(DB00977)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Ospemifene(DB04938)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)|Trilostane(DB01108) TGAACAGTACTTGTGCAGGAT 0.522 NA T||| 2322 0.463658 0.4357 0.4697 5008 , , NA 19869 0.4117 NA 0.4632 False NA ,,, NA NA NA 2504 0.5511 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X03635 CCDS5234.1 6q24-q27 2013-01-16 ENSG00000091831 ENSG00000091831 2099 Nuclear hormone receptors 3467 protein-coding gene gene with protein product 133430 ESR NA 3754034 Standard NM_000125 NA Approved NR3A1, Era uc003qon.4 P03372 OTTHUMG00000016103 ENST00000206249.3:c.*1029T>C chr6.hg19:g.152421130T>C NA Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7 hg19 CCDS5234.1 0.02 13.152839 TACxTGT COVERED NOVEL ESR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000043308.1 5 17.22039 KEEP 0 2 68 81 2548 TT 1 1 0 + 10 60 365 0 0 21.719341 329 60 12162 507 ENST00000206249.3 0.029499 1 SYNE1 23345 __UNKNOWN__ __UNKNOWN__ 6 152443468 152443468 __UNKNOWN__ 3'UTR SNP G G T rs2250122 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:152443468G>T ENST00000367255.5 - 0 27098 SYNE1_ENST00000448038.1_3'UTR|SYNE1_ENST00000347037.5_5'UTR|ESR1_ENST00000427531.2_Intron|SYNE1_ENST00000356820.4_3'UTR|SYNE1_ENST00000265368.4_3'UTR|SYNE1_ENST00000423061.1_3'UTR|SYNE1_ENST00000539504.1_3'UTR|SYNE1_ENST00000341594.5_3'UTR NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 NA NA cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993) actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803) NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GCCACACCGAGGGCTTTCGCC 0.493 NA HNSCC(10;0.0054) G||| 1228 0.245208 0.1029 0.2997 5008 , , NA 20570 0.3056 NA 0.2197 False NA ,,, NA NA NA 2504 0.363 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB018339 CCDS5235.1, CCDS5236.1, CCDS5236.2 6q24.2-q25.3 2014-09-17 ENSG00000131018 ENSG00000131018 23345 17089 protein-coding gene gene with protein product myocyte nuclear envelope protein 1, nuclear envelope spectrin repeat-1 608441 chromosome 6 open reading frame 98 C6orf98 NA 9872452, 10878022 Standard NM_182961 NM_182961 NA Approved SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1 uc003qou.4 Q8NF91 OTTHUMG00000015841 ENST00000367255.5:c.*103C>A chr6.hg19:g.152443468G>T NA E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8 hg19 CCDS5236.2 0.02 3.888592 CGAxGGC COVERED NOVEL SYNE1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000334755.2 2 8.126403 KEEP 0 0 0 27 945 GG 0.999988 0.999988 0 - 5 60 179 0 0 10.818946 142 60 5123 175 ENST00000367255.5 0.034014 1 SYNE1 23345 __UNKNOWN__ __UNKNOWN__ 6 152450470 152450470 __UNKNOWN__ Intron SNP C C T rs2459111 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:152450470C>T ENST00000367255.5 - 145 26755 SYNE1_ENST00000354674.4_Intron|SYNE1_ENST00000448038.1_Intron|SYNE1_ENST00000347037.5_Intron|ESR1_ENST00000427531.2_3'UTR|SYNE1_ENST00000356820.4_Intron|SYNE1_ENST00000265368.4_Intron|SYNE1_ENST00000423061.1_Intron|SYNE1_ENST00000539504.1_Intron|SYNE1_ENST00000341594.5_Intron NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 NA NA cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993) actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803) NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CTCTGGTATCCTCGAAGGAAT 0.423 NA HNSCC(10;0.0054) C||| 1926 0.384585 0.4448 0.4092 5008 , , NA 20966 0.376 NA 0.2664 False NA ,,, NA NA NA 2504 0.4162 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB018339 CCDS5235.1, CCDS5236.1, CCDS5236.2 6q24.2-q25.3 2014-09-17 ENSG00000131018 ENSG00000131018 23345 17089 protein-coding gene gene with protein product myocyte nuclear envelope protein 1, nuclear envelope spectrin repeat-1 608441 chromosome 6 open reading frame 98 C6orf98 NA 9872452, 10878022 Standard NM_182961 NM_182961 NA Approved SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1 uc003qou.4 Q8NF91 OTTHUMG00000015841 ENST00000367255.5:c.26153+1384G>A chr6.hg19:g.152450470C>T NA E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8 hg19 CCDS5236.2 0.02 5.815784 ATCxTCG COVERED NOVEL SYNE1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000334755.2 2 19.563866 KEEP 0 0 0 65 2337 CC 1 1 0 - 7 60 252 0 0 15.560617 181 60 6723 295 ENST00000367255.5 0.037234 1 SYNE1 23345 __UNKNOWN__ __UNKNOWN__ 6 152469331 152469331 __UNKNOWN__ Silent SNP C C T rs2252748 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:152469331C>T ENST00000367255.5 - 137 25426 c.24825G>A c.(24823-24825)ccG>ccA p.P8275P SYNE1_ENST00000354674.4_Silent_p.P430P|SYNE1_ENST00000448038.1_Silent_p.P8204P|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000356820.4_Silent_p.P2799P|SYNE1_ENST00000265368.4_Silent_p.P8275P|SYNE1_ENST00000423061.1_Silent_p.P8204P|SYNE1_ENST00000539504.1_Silent_p.P430P|SYNE1_ENST00000341594.5_Silent_p.P7887P NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 8275 NA cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993) actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803) NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CCACACTAGCCGGGGTGTCTC 0.617 NA HNSCC(10;0.0054) C||| 1700 0.339457 0.3079 0.4597 5008 , , NA 18551 0.2976 NA 0.2833 False NA ,,, NA NA NA 2504 0.3978 NA NA NA NA 0 C , 1382,3024 455.9+/-351.1 216,950,1037 60 59 59 24612,24825 -10.5 0.2 6 dbSNP_100 59 2532,6068 413.6+/-351.2 376,1780,2144 no coding-synonymous,coding-synonymous SYNE1 NM_033071.3,NM_182961.3 , 592,2730,3181 TT,TC,CC 29.4419,31.3663,30.0938 , 8204/8750,8275/8798 152469331 3914,9092 2203 4300 6503 SO:0001819 synonymous_variant AB018339 CCDS5235.1, CCDS5236.1, CCDS5236.2 6q24.2-q25.3 2014-09-17 ENSG00000131018 ENSG00000131018 23345 17089 protein-coding gene gene with protein product myocyte nuclear envelope protein 1, nuclear envelope spectrin repeat-1 608441 chromosome 6 open reading frame 98 C6orf98 NA 9872452, 10878022 Standard NM_182961 NM_182961 NA Approved SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1 uc003qou.4 Q8NF91 OTTHUMG00000015841 ENST00000367255.5:c.24825G>A chr6.hg19:g.152469331C>T NA E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8 hg19 CCDS5236.2 0.02 8.751951 AGCxGGG COVERED NOVEL SYNE1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000334755.2 0 27.6869 KEEP 0 0 0 92 3080 CC 1 1 0 - 9 60 337 0 0 21.553991 218 60 7563 375 ENST00000367255.5 0.039648 1 SYNE1 23345 __UNKNOWN__ __UNKNOWN__ 6 152542548 152542548 __UNKNOWN__ Intron SNP A A G rs9383976 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:152542548A>G ENST00000367255.5 - 118 22258 SYNE1_ENST00000448038.1_Intron|SYNE1_ENST00000356820.4_Intron|SYNE1_ENST00000265368.4_Intron|SYNE1_ENST00000423061.1_Intron|SYNE1_ENST00000341594.5_Intron NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 NA NA cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993) actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803) NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TGTAAAGTTAACATACTCCAT 0.313 NA HNSCC(10;0.0054) A||| 1692 0.337859 0.2995 0.2493 5008 , , NA 16635 0.5367 NA 0.2078 False NA ,,, NA NA NA 2504 0.3814 NA NA NA NA 0 A , 1412,2994 459.8+/-352.4 231,950,1022 123 126 125 , -0.1 0 6 dbSNP_119 125 1933,6667 339.9+/-323.4 231,1471,2598 no intron,intron SYNE1 NM_033071.3,NM_182961.3 , 462,2421,3620 GG,GA,AA 22.4767,32.0472,25.7189 , , 152542548 3345,9661 2203 4300 6503 SO:0001627 intron_variant AB018339 CCDS5235.1, CCDS5236.1, CCDS5236.2 6q24.2-q25.3 2014-09-17 ENSG00000131018 ENSG00000131018 23345 17089 protein-coding gene gene with protein product myocyte nuclear envelope protein 1, nuclear envelope spectrin repeat-1 608441 chromosome 6 open reading frame 98 C6orf98 NA 9872452, 10878022 Standard NM_182961 NM_182961 NA Approved SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1 uc003qou.4 Q8NF91 OTTHUMG00000015841 ENST00000367255.5:c.21656+12T>C chr6.hg19:g.152542548A>G NA E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8 hg19 CCDS5236.2 0.02 4.044688 TTAxCAT COVERED NOVEL SYNE1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000334755.2 0 7.523337 KEEP 0 0 0 25 810 AA 0.999931 0.999931 0 - 7 60 261 0 0 17.629973 122 60 4292 170 ENST00000367255.5 0.054264 1 SYNE1 23345 __UNKNOWN__ __UNKNOWN__ 6 152570415 152570415 __UNKNOWN__ Intron SNP G G A rs6557210 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:152570415G>A ENST00000367255.5 - 105 20072 SYNE1_ENST00000448038.1_Intron|SYNE1_ENST00000356820.4_Intron|SYNE1_ENST00000265368.4_Intron|SYNE1_ENST00000423061.1_Intron|SYNE1_ENST00000341594.5_Intron NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 NA NA cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993) actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803) NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GGAAAGCAACGGGAAAACTCA 0.353 NA HNSCC(10;0.0054) A||| 3409 0.680711 0.649 0.634 5008 , , NA 18288 0.879 NA 0.5915 False NA ,,, NA NA NA 2504 0.6442 NA NA NA NA 0 A , 2869,1535 480.6+/-358.9 925,1019,258 71 68 69 , 3.4 0 6 dbSNP_116 69 5244,3356 496.2+/-374.2 1636,1972,692 no intron,intron SYNE1 NM_033071.3,NM_182961.3 , 2561,2991,950 AA,AG,GG 39.0233,34.8547,37.6115 , , 152570415 8113,4891 2202 4300 6502 SO:0001627 intron_variant AB018339 CCDS5235.1, CCDS5236.1, CCDS5236.2 6q24.2-q25.3 2014-09-17 ENSG00000131018 ENSG00000131018 23345 17089 protein-coding gene gene with protein product myocyte nuclear envelope protein 1, nuclear envelope spectrin repeat-1 608441 chromosome 6 open reading frame 98 C6orf98 NA 9872452, 10878022 Standard NM_182961 NM_182961 NA Approved SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1 uc003qou.4 Q8NF91 OTTHUMG00000015841 ENST00000367255.5:c.19471-18C>T chr6.hg19:g.152570415G>A NA E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8 hg19 CCDS5236.2 0.02 8.956082 AACxGGA COVERED NOVEL SYNE1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000334755.2 0 25.313454 KEEP 0 1 22 92 3093 GG 1 1 0 - 9 60 341 0 0 22.151116 207 60 7335 377 ENST00000367255.5 0.041667 1 SYNE1 23345 __UNKNOWN__ __UNKNOWN__ 6 152651759 152651759 __UNKNOWN__ Silent SNP C C G rs3734365 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:152651759C>G ENST00000367255.5 - 78 14662 c.14061G>C c.(14059-14061)ctG>ctC p.L4687L SYNE1_ENST00000448038.1_Silent_p.L4616L|SYNE1_ENST00000265368.4_Silent_p.L4687L|SYNE1_ENST00000423061.1_Silent_p.L4616L|SYNE1_ENST00000341594.5_Silent_p.L4434L NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 4687 NA cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993) actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803) NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CAAGTTCACTCAGAGACTGGG 0.468 NA HNSCC(10;0.0054) C||| 827 0.165136 0.0469 0.0677 5008 , , NA 20405 0.4841 NA 0.0736 False NA ,,, NA NA NA 2504 0.1595 NA NA NA NA 0 C , 177,4229 114.6+/-152.6 6,165,2032 49 51 50 13848,14061 3.8 0.9 6 dbSNP_107 50 534,8066 147.7+/-203.1 16,502,3782 no coding-synonymous,coding-synonymous SYNE1 NM_033071.3,NM_182961.3 , 22,667,5814 GG,GC,CC 6.2093,4.0172,5.4667 , 4616/8750,4687/8798 152651759 711,12295 2203 4300 6503 SO:0001819 synonymous_variant AB018339 CCDS5235.1, CCDS5236.1, CCDS5236.2 6q24.2-q25.3 2014-09-17 ENSG00000131018 ENSG00000131018 23345 17089 protein-coding gene gene with protein product myocyte nuclear envelope protein 1, nuclear envelope spectrin repeat-1 608441 chromosome 6 open reading frame 98 C6orf98 NA 9872452, 10878022 Standard NM_182961 NM_182961 NA Approved SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1 uc003qou.4 Q8NF91 OTTHUMG00000015841 ENST00000367255.5:c.14061G>C chr6.hg19:g.152651759C>G NA E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8 hg19 CCDS5236.2 0.02 11.21999 ACTxAGA COVERED NOVEL SYNE1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000334755.2 1 13.844958 KEEP 0 0 0 46 1631 CC 1 1 0 - 10 60 374 0 0 23.892724 243 60 9043 347 ENST00000367255.5 0.039526 1 SYNE1 23345 __UNKNOWN__ __UNKNOWN__ 6 152738409 152738409 __UNKNOWN__ Intron SNP A A G rs7738706 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:152738409A>G ENST00000367255.5 - 41 6023 SYNE1_ENST00000448038.1_Intron|SYNE1_ENST00000265368.4_Intron|SYNE1_ENST00000423061.1_Intron|SYNE1_ENST00000341594.5_Intron NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 NA NA cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993) actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803) NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) caaggcgggcagatcacgagg 0.527 NA HNSCC(10;0.0054) G||| 1190 0.23762 0.2405 0.1499 5008 , , NA 15528 0.3542 NA 0.2038 False NA ,,, NA NA NA 2504 0.2106 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB018339 CCDS5235.1, CCDS5236.1, CCDS5236.2 6q24.2-q25.3 2014-09-17 ENSG00000131018 ENSG00000131018 23345 17089 protein-coding gene gene with protein product myocyte nuclear envelope protein 1, nuclear envelope spectrin repeat-1 608441 chromosome 6 open reading frame 98 C6orf98 NA 9872452, 10878022 Standard NM_182961 NM_182961 NA Approved SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1 uc003qou.4 Q8NF91 OTTHUMG00000015841 ENST00000367255.5:c.5422-259T>C chr6.hg19:g.152738409A>G NA E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8 hg19 CCDS5236.2 0.02 -0.087729 GGCxGAT UNCOVERED NOVEL SYNE1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000334755.2 5 3.008127 KEEP 2 0 0 10 296 AA 0.99257 0.09898 0 - 3 47 112 0 0 9.978475 7 60 254 25 ENST00000367255.5 0.3 0.099721 SYNE1 23345 __UNKNOWN__ __UNKNOWN__ 6 152738424 152738424 __UNKNOWN__ Intron SNP G G A rs7756247 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:152738424G>A ENST00000367255.5 - 41 6023 SYNE1_ENST00000448038.1_Intron|SYNE1_ENST00000265368.4_Intron|SYNE1_ENST00000423061.1_Intron|SYNE1_ENST00000341594.5_Intron NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 NA NA cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993) actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803) NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) acgaggtcaggagatcgaaac 0.537 NA HNSCC(10;0.0054) G||| 1186 0.236821 0.2368 0.1499 5008 , , NA 15118 0.3542 NA 0.2038 False NA ,,, NA NA NA 2504 0.2117 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB018339 CCDS5235.1, CCDS5236.1, CCDS5236.2 6q24.2-q25.3 2014-09-17 ENSG00000131018 ENSG00000131018 23345 17089 protein-coding gene gene with protein product myocyte nuclear envelope protein 1, nuclear envelope spectrin repeat-1 608441 chromosome 6 open reading frame 98 C6orf98 NA 9872452, 10878022 Standard NM_182961 NM_182961 NA Approved SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1 uc003qou.4 Q8NF91 OTTHUMG00000015841 ENST00000367255.5:c.5422-274C>T chr6.hg19:g.152738424G>A NA E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8 hg19 CCDS5236.2 0.02 -0.078961 CAGxAGA UNCOVERED NOVEL SYNE1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000334755.2 6 3.009711 KEEP 2 0 0 10 349 GG 0.99257 0.076761 0 - 3 60 114 0 0 10.343454 6 60 231 24 ENST00000367255.5 0.333333 0.077336 SYNE1 23345 __UNKNOWN__ __UNKNOWN__ 6 152756194 152756194 __UNKNOWN__ Intron SNP C C T rs17082676 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:152756194C>T ENST00000367255.5 - 33 4912 SYNE1_ENST00000367248.3_3'UTR|SYNE1_ENST00000448038.1_Intron|SYNE1_ENST00000367253.4_Intron|SYNE1_ENST00000265368.4_Intron|SYNE1_ENST00000423061.1_Intron|SYNE1_ENST00000341594.5_Intron NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 NA NA cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993) actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803) NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) ATATAAAGTCCTCAAAATTTC 0.204 NA HNSCC(10;0.0054) C||| 955 0.190695 0.1543 0.1138 5008 , , NA 13718 0.3651 NA 0.1461 False NA ,,, NA NA NA 2504 0.1605 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB018339 CCDS5235.1, CCDS5236.1, CCDS5236.2 6q24.2-q25.3 2014-09-17 ENSG00000131018 ENSG00000131018 23345 17089 protein-coding gene gene with protein product myocyte nuclear envelope protein 1, nuclear envelope spectrin repeat-1 608441 chromosome 6 open reading frame 98 C6orf98 NA 9872452, 10878022 Standard NM_182961 NM_182961 NA Approved SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1 uc003qou.4 Q8NF91 OTTHUMG00000015841 ENST00000367255.5:c.4310+881G>A chr6.hg19:g.152756194C>T NA E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8 hg19 CCDS5236.2 0.02 1.847832 GTCxTCA COVERED NOVEL SYNE1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000334755.2 0 3.611541 KEEP 0 0 0 12 410 CC 0.993634 0.991545 0 - 6 60 219 0 0 15.758012 67 60 2469 95 ENST00000367255.5 0.082192 0.997898 SYNE1 23345 __UNKNOWN__ __UNKNOWN__ 6 152756493 152756493 __UNKNOWN__ Intron SNP A A G rs7769359 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:152756493A>G ENST00000367255.5 - 33 4912 SYNE1_ENST00000367248.3_3'UTR|SYNE1_ENST00000448038.1_Intron|SYNE1_ENST00000367253.4_Intron|SYNE1_ENST00000265368.4_Intron|SYNE1_ENST00000423061.1_Intron|SYNE1_ENST00000341594.5_Intron NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 NA NA cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993) actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803) NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GGTATATAACAGGATATCAAT 0.244 NA HNSCC(10;0.0054) A||| 955 0.190695 0.1543 0.1138 5008 , , NA 12875 0.3651 NA 0.1461 False NA ,,, NA NA NA 2504 0.1605 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB018339 CCDS5235.1, CCDS5236.1, CCDS5236.2 6q24.2-q25.3 2014-09-17 ENSG00000131018 ENSG00000131018 23345 17089 protein-coding gene gene with protein product myocyte nuclear envelope protein 1, nuclear envelope spectrin repeat-1 608441 chromosome 6 open reading frame 98 C6orf98 NA 9872452, 10878022 Standard NM_182961 NM_182961 NA Approved SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1 uc003qou.4 Q8NF91 OTTHUMG00000015841 ENST00000367255.5:c.4310+582T>C chr6.hg19:g.152756493A>G NA E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8 hg19 CCDS5236.2 0.02 4.291109 AACxGGA COVERED NOVEL SYNE1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000334755.2 1 8.123878 KEEP 0 0 0 27 833 AA 0.999988 0.999988 0 - 9 60 323 0 0 22.239404 126 60 4654 188 ENST00000367255.5 0.066667 1 MYCT1 80177 __UNKNOWN__ __UNKNOWN__ 6 153044112 153044112 __UNKNOWN__ 3'UTR SNP G G A rs113721272 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:153044112G>A ENST00000367245.5 + 0 1440 MYCT1_ENST00000529453.1_3'UTR NM_025107.2 NP_079383.2 Q8N699 MYCT1_HUMAN myc target 1 NA NA nucleus (GO:0005634) NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 20 Ovarian(120;0.0654) OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143) cctaaactcagatgatcctcc 0.433 NA A||| 523 0.104433 0.1725 0.0937 5008 , , NA 17544 0.1409 NA 0.0219 False NA ,,, NA NA NA 2504 0.0675 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF527367 CCDS5239.1 6q25.1 2008-02-05 ENSG00000120279 ENSG00000120279 80177 23172 protein-coding gene gene with protein product NA 12477932 Standard NM_025107 NM_025107 NA Approved MTLC, FLJ21269 uc003qpc.4 Q8N699 OTTHUMG00000015850 ENST00000367245.5:c.*724G>A chr6.hg19:g.153044112G>A NA Q8N396|Q8TBE8|Q9H763 hg19 CCDS5239.1 0.02 1.888561 TCAxATG COVERED NOVEL MYCT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000042750.2 4 3.912245 KEEP 0 0 0 13 447 GG 0.994391 0.976447 0 + 4 60 142 0 0 9.820447 53 60 1999 75 ENST00000367245.5 0.070175 0.981955 MYCT1 80177 __UNKNOWN__ __UNKNOWN__ 6 153045227 153045227 __UNKNOWN__ 3'UTR SNP A A G rs6934838 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:153045227A>G ENST00000367245.5 + 0 2555 NM_025107.2 NP_079383.2 Q8N699 MYCT1_HUMAN myc target 1 NA NA nucleus (GO:0005634) NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 20 Ovarian(120;0.0654) OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143) AAAAAGTAAGAGAAAGAGGGA 0.308 NA G||| 3472 0.693291 0.6021 0.804 5008 , , NA 16282 0.8006 NA 0.6968 False NA ,,, NA NA NA 2504 0.6237 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF527367 CCDS5239.1 6q25.1 2008-02-05 ENSG00000120279 ENSG00000120279 80177 23172 protein-coding gene gene with protein product NA 12477932 Standard NM_025107 NM_025107 NA Approved MTLC, FLJ21269 uc003qpc.4 Q8N699 OTTHUMG00000015850 ENST00000367245.5:c.*1839A>G chr6.hg19:g.153045227A>G NA Q8N396|Q8TBE8|Q9H763 hg19 CCDS5239.1 0.02 5.903761 AAGxGAA COVERED NOVEL MYCT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000042750.2 0 6.451946 KEEP 0 1 36 34 1063 AA 0.999999 0.999999 0 + 9 60 318 0 0 20.628613 169 60 6162 252 ENST00000367245.5 0.050562 1 MTRF1L 54516 __UNKNOWN__ __UNKNOWN__ 6 153315744 153315744 __UNKNOWN__ Silent SNP T T A rs57819885 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:153315744T>A ENST00000367233.5 - 4 590 c.591A>T c.(589-591)ggA>ggT p.G197G MTRF1L_ENST00000367230.1_Silent_p.G161G|MTRF1L_ENST00000367231.5_Silent_p.G197G|MTRF1L_ENST00000464135.1_5'UTR NM_019041.5 NP_061914.3 Q9UGC7 RF1ML_HUMAN mitochondrial translational release factor 1-like 197 NA mitochondrion (GO:0005739) translation release factor activity, codon specific (GO:0016149) endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1) 10 Ovarian(120;0.125) OV - Ovarian serous cystadenocarcinoma(155;4.24e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0888) TGTGAACACCTCCTTCAAATT 0.438 NA T||| 257 0.0513179 0.1528 0.0086 5008 , , NA 16110 0.0387 NA 0.001 False NA ,,, NA NA NA 2504 0.0092 NA NA NA NA 0 T , 596,3810 262.8+/-265.1 34,528,1641 124 115 118 591,591 -1.1 1 6 dbSNP_129 118 12,8584 9.1+/-34.3 0,12,4286 no coding-synonymous,coding-synonymous MTRF1L NM_001114184.1,NM_019041.5 , 34,540,5927 AA,AT,TT 0.1396,13.527,4.6762 , 197/272,197/381 153315744 608,12394 2203 4298 6501 SO:0001819 synonymous_variant BC011873 CCDS5243.1, CCDS47502.1, CCDS75540.1 6q25-q26 2008-02-05 ENSG00000112031 ENSG00000112031 54516 21051 protein-coding gene gene with protein product 613542 NA Standard NM_019041 NM_019041 NA Approved uc003qpi.4 Q9UGC7 OTTHUMG00000015857 ENST00000367233.5:c.591A>T chr6.hg19:g.153315744T>A NA B3KTA0|Q3KR06|Q5TF44|Q5TF50|Q96CC5|Q96EX4|Q96K40 hg19 CCDS5243.1 0.02 2.052933 ACCxCCT COVERED NOVEL MTRF1L-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000042764.1 0 3.600632 KEEP 0 0 0 12 341 TT 0.993634 0.983243 0 - 4 60 140 0 0 9.500053 57 60 2141 81 ENST00000367233.5 0.065574 0.989542 MTRF1L 54516 __UNKNOWN__ __UNKNOWN__ 6 153319782 153319782 __UNKNOWN__ Intron SNP G G A rs73634631 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:153319782G>A ENST00000367233.5 - 2 259 MTRF1L_ENST00000367230.1_Intron|MTRF1L_ENST00000367231.5_Intron|MTRF1L_ENST00000464135.1_Intron NM_019041.5 NP_061914.3 Q9UGC7 RF1ML_HUMAN mitochondrial translational release factor 1-like NA NA mitochondrion (GO:0005739) translation release factor activity, codon specific (GO:0016149) endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1) 10 Ovarian(120;0.125) OV - Ovarian serous cystadenocarcinoma(155;4.24e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0888) AAAAAGGGCAGAAGTTAAGGT 0.313 NA G||| 257 0.0513179 0.1528 0.0086 5008 , , NA 15936 0.0387 NA 0.001 False NA ,,, NA NA NA 2504 0.0092 NA NA NA NA 0 G , 591,3809 245.9+/-254.7 33,525,1642 50 50 50 , 0.3 0 6 dbSNP_130 50 12,8578 7.1+/-27.0 0,12,4283 no intron,intron MTRF1L NM_001114184.1,NM_019041.5 , 33,537,5925 AA,AG,GG 0.1397,13.4318,4.642 , , 153319782 603,12387 2200 4295 6495 SO:0001627 intron_variant BC011873 CCDS5243.1, CCDS47502.1, CCDS75540.1 6q25-q26 2008-02-05 ENSG00000112031 ENSG00000112031 54516 21051 protein-coding gene gene with protein product 613542 NA Standard NM_019041 NM_019041 NA Approved uc003qpi.4 Q9UGC7 OTTHUMG00000015857 ENST00000367233.5:c.260-18C>T chr6.hg19:g.153319782G>A NA B3KTA0|Q3KR06|Q5TF44|Q5TF50|Q96CC5|Q96EX4|Q96K40 hg19 CCDS5243.1 0.02 6.542211 GCAxAAG COVERED NOVEL MTRF1L-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000042764.1 2 21.068386 KEEP 0 0 0 70 2520 GG 1 1 0 - 6 60 222 0 0 13.922093 156 60 6083 315 ENST00000367233.5 0.037037 1 IPCEF1 26034 __UNKNOWN__ __UNKNOWN__ 6 154476528 154476528 __UNKNOWN__ 3'UTR SNP T T C rs9479767 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:154476528T>C ENST00000265198.4 - 0 5904 OPRM1_ENST00000337049.4_Intron NM_001130700.1|NM_015553.2 NP_001124172.1|NP_056368.1 Q8WWN9 ICEF1_HUMAN interaction protein for cytohesin exchange factors 1 NA NA oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|positive regulation of GTP catabolic process (GO:0033126)|response to oxidative stress (GO:0006979) cytosol (GO:0005829)|plasma membrane (GO:0005886) oxygen transporter activity (GO:0005344)|peroxidase activity (GO:0004601) breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 12 CACAATTGGATATCATATTCT 0.378 NA T||| 2405 0.480232 0.5129 0.3862 5008 , , NA 19187 0.4921 NA 0.5596 False NA ,,, NA NA NA 2504 0.409 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB007863 CCDS5245.1, CCDS47509.1 6q25.2 2013-01-10 ENSG00000074706 ENSG00000074706 26034 Pleckstrin homology (PH) domain containing 21204 protein-coding gene gene with protein product phosphoinositide binding protein PIP3-E NA 11804589, 19756519 Standard NM_001130699 NM_001130699 NA Approved PIP3-E, KIAA0403 uc021zhc.1 Q8WWN9 OTTHUMG00000015872 ENST00000265198.4:c.*4435A>G chr6.hg19:g.154476528T>C NA A8K1K2|B7ZL78|B7ZL80|O43153|Q5HYL8 hg19 CCDS5245.1 0.02 7.013119 GGAxATC COVERED NOVEL IPCEF1-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000042789.2 1 8.79474 KEEP 0 2 65 52 1611 TT 1 1 0 - 7 60 272 0 0 17.557359 181 60 6617 299 ENST00000265198.4 0.037234 1 IPCEF1 26034 __UNKNOWN__ __UNKNOWN__ 6 154478893 154478893 __UNKNOWN__ 3'UTR SNP T T C rs2236259 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:154478893T>C ENST00000265198.4 - 0 3539 OPRM1_ENST00000337049.4_Intron NM_001130700.1|NM_015553.2 NP_001124172.1|NP_056368.1 Q8WWN9 ICEF1_HUMAN interaction protein for cytohesin exchange factors 1 NA NA oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|positive regulation of GTP catabolic process (GO:0033126)|response to oxidative stress (GO:0006979) cytosol (GO:0005829)|plasma membrane (GO:0005886) oxygen transporter activity (GO:0005344)|peroxidase activity (GO:0004601) breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 12 TGTTATTTGTTGTTCCTTCAA 0.363 NA C||| 2758 0.550719 0.7526 0.4207 5008 , , NA 20548 0.4921 NA 0.5686 False NA ,,, NA NA NA 2504 0.4121 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB007863 CCDS5245.1, CCDS47509.1 6q25.2 2013-01-10 ENSG00000074706 ENSG00000074706 26034 Pleckstrin homology (PH) domain containing 21204 protein-coding gene gene with protein product phosphoinositide binding protein PIP3-E NA 11804589, 19756519 Standard NM_001130699 NM_001130699 NA Approved PIP3-E, KIAA0403 uc021zhc.1 Q8WWN9 OTTHUMG00000015872 ENST00000265198.4:c.*2070A>G chr6.hg19:g.154478893T>C NA A8K1K2|B7ZL78|B7ZL80|O43153|Q5HYL8 hg19 CCDS5245.1 0.02 6.742964 TGTxGTT COVERED NOVEL IPCEF1-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000042789.2 1 11.432516 KEEP 0 0 0 38 1165 TT 1 1 0 - 8 60 275 0 0 17.612065 154 60 5481 227 ENST00000265198.4 0.049383 1 IPCEF1 26034 __UNKNOWN__ __UNKNOWN__ 6 154479003 154479003 __UNKNOWN__ 3'UTR SNP T T C rs6902403 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:154479003T>C ENST00000265198.4 - 0 3429 OPRM1_ENST00000337049.4_Intron NM_001130700.1|NM_015553.2 NP_001124172.1|NP_056368.1 Q8WWN9 ICEF1_HUMAN interaction protein for cytohesin exchange factors 1 NA NA oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|positive regulation of GTP catabolic process (GO:0033126)|response to oxidative stress (GO:0006979) cytosol (GO:0005829)|plasma membrane (GO:0005886) oxygen transporter activity (GO:0005344)|peroxidase activity (GO:0004601) breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 12 AAGCACTGCTTTCCTAAACCA 0.438 NA C||| 2751 0.549321 0.7466 0.4207 5008 , , NA 19720 0.4931 NA 0.5686 False NA ,,, NA NA NA 2504 0.4121 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB007863 CCDS5245.1, CCDS47509.1 6q25.2 2013-01-10 ENSG00000074706 ENSG00000074706 26034 Pleckstrin homology (PH) domain containing 21204 protein-coding gene gene with protein product phosphoinositide binding protein PIP3-E NA 11804589, 19756519 Standard NM_001130699 NM_001130699 NA Approved PIP3-E, KIAA0403 uc021zhc.1 Q8WWN9 OTTHUMG00000015872 ENST00000265198.4:c.*1960A>G chr6.hg19:g.154479003T>C NA A8K1K2|B7ZL78|B7ZL80|O43153|Q5HYL8 hg19 CCDS5245.1 0.02 11.974165 GCTxTCC COVERED NOVEL IPCEF1-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000042789.2 0 18.633766 KEEP 0 0 0 62 1929 TT 1 1 0 - 15 60 564 0 0 38.710521 243 60 8762 393 ENST00000265198.4 0.05814 1 IPCEF1 26034 __UNKNOWN__ __UNKNOWN__ 6 154479396 154479396 __UNKNOWN__ 3'UTR SNP C C G rs9322448 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:154479396C>G ENST00000422970.2 - 0 3079 OPRM1_ENST00000337049.4_Intron|IPCEF1_ENST00000265198.4_3'UTR NM_001130699.1 NP_001124171.1 Q8WWN9 ICEF1_HUMAN interaction protein for cytohesin exchange factors 1 NA NA oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|positive regulation of GTP catabolic process (GO:0033126)|response to oxidative stress (GO:0006979) cytosol (GO:0005829)|plasma membrane (GO:0005886) oxygen transporter activity (GO:0005344)|peroxidase activity (GO:0004601) breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 12 CAATTTGTTACGGGTAGGCAG 0.383 NA G||| 2763 0.551717 0.7564 0.4207 5008 , , NA 17882 0.4921 NA 0.5686 False NA ,,, NA NA NA 2504 0.4121 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB007863 CCDS5245.1, CCDS47509.1 6q25.2 2013-01-10 ENSG00000074706 ENSG00000074706 26034 Pleckstrin homology (PH) domain containing 21204 protein-coding gene gene with protein product phosphoinositide binding protein PIP3-E NA 11804589, 19756519 Standard NM_001130699 NM_001130699 NA Approved PIP3-E, KIAA0403 uc021zhc.1 Q8WWN9 OTTHUMG00000015872 ENST00000422970.2:c.*1567G>C chr6.hg19:g.154479396C>G NA A8K1K2|B7ZL78|B7ZL80|O43153|Q5HYL8 hg19 CCDS47509.1 0.02 4.476655 TTAxGGG COVERED NOVEL IPCEF1-005 KNOWN alternative_5_UTR|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000375787.1 1 5.051976 KEEP 0 1 35 29 1003 CC 0.999997 0.999997 0 - 5 60 187 0 0 11.614159 142 60 5063 207 ENST00000422970.2 0.034014 1 CNKSR3 154043 __UNKNOWN__ __UNKNOWN__ 6 154731588 154731588 __UNKNOWN__ Intron SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:154731588G>A ENST00000479339.1 - 12 1390 CNKSR3_ENST00000433165.2_Intron|CNKSR3_ENST00000607772.1_Intron Q6P9H4 CNKR3_HUMAN CNKSR family member 3 NA NA negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765) cytoplasm (GO:0005737)|membrane (GO:0016020) breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 15 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627) CGAGAAAGAAGGTGACAAGTT 0.478 NA NA NA NA NA NA NA NA NA NA NA 0 65 60 61 NA NA 6 NA 154731588 2203 4300 6503 SO:0001627 intron_variant AK055911 CCDS5246.1 6q25.2 2013-01-10 2005-04-11 2005-04-11 ENSG00000153721 ENSG00000153721 154043 Sterile alpha motif (SAM) domain containing 23034 protein-coding gene gene with protein product membrane associated guanylate kinase interacting protein-like 1 MAGI1 NA Standard NM_173515 NM_173515 NA Approved FLJ31349 Q6P9H4 OTTHUMG00000015873 ENST00000479339.1:c.1040-22C>T chr6.hg19:g.154731588G>A NA Q5SGD5|Q96N65 hg19 0.02 4.581806 GAAxGTG COVERED NOVEL CNKSR3-005 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000348631.2 0 24.378743 KEEP 0 0 0 81 2845 GG 1 1 0 - 7 60 268 0 0 18.163181 129 60 4770 267 ENST00000479339.1 0.051471 1 TIAM2 26230 __UNKNOWN__ __UNKNOWN__ 6 155561672 155561672 __UNKNOWN__ Silent SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:155561672G>A ENST00000528391.2 + 11 1327 c.1185G>A c.(1183-1185)gaG>gaA p.E395E TIAM2_ENST00000367174.2_Silent_p.E435E|TIAM2_ENST00000360366.4_Silent_p.E1083E|TIAM2_ENST00000456877.2_Silent_p.E371E|TIAM2_ENST00000318981.5_Silent_p.E1059E|TIAM2_ENST00000529824.2_Silent_p.E1059E|TIAM2_ENST00000456144.1_Silent_p.E1059E|TIAM2_ENST00000275246.7_5'UTR|TIAM2_ENST00000461783.3_Silent_p.E1059E Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 1059 NA apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281) cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) AGAGTGCTGAGCAGATCACTG 0.582 NA NA NA NA NA NA NA NA NA NA NA 0 73 65 68 NA NA 6 NA 155561672 2203 4300 6503 SO:0001819 synonymous_variant CCDS34558.1, CCDS34559.1 6q25 2013-01-10 ENSG00000146426 ENSG00000146426 26230 Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing 11806 protein-coding gene gene with protein product 604709 NA 10512681 Standard NM_012454 NM_012454 NA Approved STEF uc003qqe.3 Q8IVF5 OTTHUMG00000015880 ENST00000528391.2:c.1185G>A chr6.hg19:g.155561672G>A NA B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0 hg19 0.02 14.459336 TGAxCAG COVERED NOVEL TIAM2-004 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000042808.3 0 18.360276 KEEP 0 0 0 61 2210 GG 1 1 0 + 15 60 541 0 0 34.20766 344 60 13033 511 ENST00000528391.2 0.041783 1 ZDHHC14 79683 __UNKNOWN__ __UNKNOWN__ 6 158095543 158095543 __UNKNOWN__ 3'UTR SNP G G C rs77392311 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:158095543G>C ENST00000359775.5 + 0 3745 Q8IZN3 ZDH14_HUMAN zinc finger, DHHC-type containing 14 NA NA protein palmitoylation (GO:0018345) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270) central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1) 17 Breast(66;0.00586)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05) AGCCACAGGGGACACAGCAAC 0.463 NA G||| 256 0.0511182 0.0325 0.0029 5008 , , NA 19667 0.1151 NA 0.0199 False NA ,,, NA NA NA 2504 0.0767 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF542388 CCDS5252.1, CCDS47510.1 6q25.3 2008-05-02 ENSG00000175048 ENSG00000175048 79683 Zinc fingers, DHHC-type 20341 protein-coding gene gene with protein product NA Standard NM_153746 NM_024630 NA Approved FLJ20984, NEW1CP uc003qqt.3 Q8IZN3 OTTHUMG00000015896 ENST00000359775.5:c.*1389G>C chr6.hg19:g.158095543G>C NA A6NDB7|Q5JS07|Q5JS08|Q6PHS4|Q8IZN2|Q9H7F1 hg19 CCDS5252.1 0.02 6.807952 GGGxACA COVERED NOVEL ZDHHC14-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000042841.2 1 13.844106 KEEP 0 0 0 46 1611 GG 1 1 0 + 7 60 266 0 0 16.767644 193 60 7178 309 ENST00000359775.5 0.035 1 ZDHHC14 79683 __UNKNOWN__ __UNKNOWN__ 6 158096331 158096331 __UNKNOWN__ 3'UTR SNP C C G rs3749840 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:158096331C>G ENST00000359775.5 + 0 4533 Q8IZN3 ZDH14_HUMAN zinc finger, DHHC-type containing 14 NA NA protein palmitoylation (GO:0018345) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270) central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1) 17 Breast(66;0.00586)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05) GGTTGCCACTCTCCTGTGACC 0.473 NA C||| 255 0.0509185 0.0318 0.0029 5008 , , NA 19160 0.1151 NA 0.0199 False NA ,,, NA NA NA 2504 0.0767 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF542388 CCDS5252.1, CCDS47510.1 6q25.3 2008-05-02 ENSG00000175048 ENSG00000175048 79683 Zinc fingers, DHHC-type 20341 protein-coding gene gene with protein product NA Standard NM_153746 NM_024630 NA Approved FLJ20984, NEW1CP uc003qqt.3 Q8IZN3 OTTHUMG00000015896 ENST00000359775.5:c.*2177C>G chr6.hg19:g.158096331C>G NA A6NDB7|Q5JS07|Q5JS08|Q6PHS4|Q8IZN2|Q9H7F1 hg19 CCDS5252.1 0.02 10.117263 ACTxTCC COVERED NOVEL ZDHHC14-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000042841.2 1 23.175453 KEEP 0 0 0 77 2785 CC 1 1 0 + 9 60 327 1 0 19.475217 289 60 11095 471 ENST00000359775.5 0.030201 1 SERAC1 84947 __UNKNOWN__ __UNKNOWN__ 6 158551528 158551528 __UNKNOWN__ Intron SNP A A C rs118093738 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:158551528A>C ENST00000367104.3 - 9 870 SERAC1_ENST00000367101.1_Intron|SERAC1_ENST00000367102.2_Intron NM_032861.3 NP_116250.3 Q96JX3 SRAC1_HUMAN serine active site containing 1 NA NA extracellular matrix organization (GO:0030198)|GPI anchor metabolic process (GO:0006505)|intracellular protein transport (GO:0006886)|phospholipid biosynthetic process (GO:0008654) cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634) hydrolase activity, acting on ester bonds (GO:0016788) endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 15 Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178) OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05) CCTGaaattaaaataattaaa 0.294 NA A||| 170 0.0339457 0.0008 0.0072 5008 , , NA 14183 0.1607 NA 0.0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 A 17,4325 0,17,2154 15 15 15 3 0.1 6 dbSNP_132 15 2,8552 0,2,4275 no intron SERAC1 NM_032861.3 0,19,6429 CC,CA,AA 0.0234,0.3915,0.1473 158551528 19,12877 2171 4277 6448 SO:0001627 intron_variant BC001705 CCDS5255.1 6q25.3 2003-05-12 ENSG00000122335 ENSG00000122335 84947 21061 protein-coding gene gene with protein product 614725 NA Standard NM_032861 NM_032861 NA Approved FLJ14917 uc003qrc.2 Q96JX3 OTTHUMG00000015905 ENST00000367104.3:c.739-10T>G chr6.hg19:g.158551528A>C NA Q49AT1|Q5VTX3|Q6PKF3 hg19 CCDS5255.1 0.02 2.070367 TTAxAAT COVERED NOVEL SERAC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000042862.1 1 5.716821 KEEP 0 0 0 19 583 AA 0.99986 0.986015 0 - 4 60 146 0 0 10.158056 55 60 2003 89 ENST00000367104.3 0.067797 0.986153 SOD2 6648 __UNKNOWN__ __UNKNOWN__ 6 160131926 160131926 __UNKNOWN__ Intron SNP G G C rs373793537 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:160131926G>C ENST00000546087.1 - 4 1713 P04179 SODM_HUMAN superoxide dismutase 2, mitochondrial NA NA age-dependent response to reactive oxygen species (GO:0001315)|cellular response to ethanol (GO:0071361)|detection of oxygen (GO:0003032)|erythrophore differentiation (GO:0048773)|glutathione metabolic process (GO:0006749)|heart development (GO:0007507)|hemopoiesis (GO:0030097)|hydrogen peroxide biosynthetic process (GO:0050665)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|iron ion homeostasis (GO:0055072)|liver development (GO:0001889)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|neuron development (GO:0048666)|oxygen homeostasis (GO:0032364)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|post-embryonic development (GO:0009791)|protein homotetramerization (GO:0051289)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|respiratory electron transport chain (GO:0022904)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to gamma radiation (GO:0010332)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to lipopolysaccharide (GO:0032496)|response to manganese ion (GO:0010042)|response to selenium ion (GO:0010269)|response to silicon dioxide (GO:0034021)|response to superoxide (GO:0000303)|response to zinc ion (GO:0010043)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)|vasodilation by acetylcholine involved in regulation of systemic arterial blood pressure (GO:0003069) extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739) DNA binding (GO:0003677)|identical protein binding (GO:0042802)|manganese ion binding (GO:0030145)|oxygen binding (GO:0019825)|superoxide dismutase activity (GO:0004784) central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(3)|skin(1) 14 Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.103) OV - Ovarian serous cystadenocarcinoma(65;1.4e-18)|BRCA - Breast invasive adenocarcinoma(81;5.77e-06) taaccgcctcgacaaccacca 0.517 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M36693 CCDS5265.1, CCDS34564.1 6q25 2008-02-05 ENSG00000112096 ENSG00000112096 6648 1.15.1.1 11180 protein-coding gene gene with protein product 147460 NA Standard NM_000636 NM_000636 NA Approved uc003qsg.3 P04179 OTTHUMG00000015940 ENST00000546087.1:c.115-18031C>G chr6.hg19:g.160131926G>C NA B2R7R1|B3KUK2|B4DL20|B4E3K9|E1P5A9|P78434|Q16792|Q5TCM1|Q96EE6|Q9P2Z3 hg19 0.02 7.35203 CTCxACA COVERED NOVEL SOD2-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000399943.1 3 5.289596 KEEP 0 2 76 44 1473 GG 1 1 0 - 31 60 1179 0 0 95.686943 163 60 5564 311 ENST00000546087.1 0.159794 1 SOD2 6648 __UNKNOWN__ __UNKNOWN__ 6 160131939 160131939 __UNKNOWN__ Intron SNP T T C rs4259273 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:160131939T>C ENST00000546087.1 - 4 1713 P04179 SODM_HUMAN superoxide dismutase 2, mitochondrial NA NA age-dependent response to reactive oxygen species (GO:0001315)|cellular response to ethanol (GO:0071361)|detection of oxygen (GO:0003032)|erythrophore differentiation (GO:0048773)|glutathione metabolic process (GO:0006749)|heart development (GO:0007507)|hemopoiesis (GO:0030097)|hydrogen peroxide biosynthetic process (GO:0050665)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|iron ion homeostasis (GO:0055072)|liver development (GO:0001889)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|neuron development (GO:0048666)|oxygen homeostasis (GO:0032364)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|post-embryonic development (GO:0009791)|protein homotetramerization (GO:0051289)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|respiratory electron transport chain (GO:0022904)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to gamma radiation (GO:0010332)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to lipopolysaccharide (GO:0032496)|response to manganese ion (GO:0010042)|response to selenium ion (GO:0010269)|response to silicon dioxide (GO:0034021)|response to superoxide (GO:0000303)|response to zinc ion (GO:0010043)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)|vasodilation by acetylcholine involved in regulation of systemic arterial blood pressure (GO:0003069) extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739) DNA binding (GO:0003677)|identical protein binding (GO:0042802)|manganese ion binding (GO:0030145)|oxygen binding (GO:0019825)|superoxide dismutase activity (GO:0004784) central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(3)|skin(1) 14 Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.103) OV - Ovarian serous cystadenocarcinoma(65;1.4e-18)|BRCA - Breast invasive adenocarcinoma(81;5.77e-06) aaccaccacttacattgctct 0.522 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M36693 CCDS5265.1, CCDS34564.1 6q25 2008-02-05 ENSG00000112096 ENSG00000112096 6648 1.15.1.1 11180 protein-coding gene gene with protein product 147460 NA Standard NM_000636 NM_000636 NA Approved uc003qsg.3 P04179 OTTHUMG00000015940 ENST00000546087.1:c.115-18044A>G chr6.hg19:g.160131939T>C NA B2R7R1|B3KUK2|B4DL20|B4E3K9|E1P5A9|P78434|Q16792|Q5TCM1|Q96EE6|Q9P2Z3 hg19 0.02 7.514286 ACTxACA COVERED NOVEL SOD2-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000399943.1 3 5.885643 KEEP 0 2 73 45 1320 TT 1 1 0 - 19 60 697 0 0 52.694866 156 60 5220 285 ENST00000546087.1 0.108571 1 SOD2 6648 __UNKNOWN__ __UNKNOWN__ 6 160132214 160132214 __UNKNOWN__ Intron SNP A A G rs375366592 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:160132214A>G ENST00000546087.1 - 4 1713 P04179 SODM_HUMAN superoxide dismutase 2, mitochondrial NA NA age-dependent response to reactive oxygen species (GO:0001315)|cellular response to ethanol (GO:0071361)|detection of oxygen (GO:0003032)|erythrophore differentiation (GO:0048773)|glutathione metabolic process (GO:0006749)|heart development (GO:0007507)|hemopoiesis (GO:0030097)|hydrogen peroxide biosynthetic process (GO:0050665)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|iron ion homeostasis (GO:0055072)|liver development (GO:0001889)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|neuron development (GO:0048666)|oxygen homeostasis (GO:0032364)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|post-embryonic development (GO:0009791)|protein homotetramerization (GO:0051289)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|respiratory electron transport chain (GO:0022904)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to gamma radiation (GO:0010332)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to lipopolysaccharide (GO:0032496)|response to manganese ion (GO:0010042)|response to selenium ion (GO:0010269)|response to silicon dioxide (GO:0034021)|response to superoxide (GO:0000303)|response to zinc ion (GO:0010043)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)|vasodilation by acetylcholine involved in regulation of systemic arterial blood pressure (GO:0003069) extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739) DNA binding (GO:0003677)|identical protein binding (GO:0042802)|manganese ion binding (GO:0030145)|oxygen binding (GO:0019825)|superoxide dismutase activity (GO:0004784) central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(3)|skin(1) 14 Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.103) OV - Ovarian serous cystadenocarcinoma(65;1.4e-18)|BRCA - Breast invasive adenocarcinoma(81;5.77e-06) caccataaccacctccacaac 0.488 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M36693 CCDS5265.1, CCDS34564.1 6q25 2008-02-05 ENSG00000112096 ENSG00000112096 6648 1.15.1.1 11180 protein-coding gene gene with protein product 147460 NA Standard NM_000636 NM_000636 NA Approved uc003qsg.3 P04179 OTTHUMG00000015940 ENST00000546087.1:c.115-18319T>C chr6.hg19:g.160132214A>G NA B2R7R1|B3KUK2|B4DL20|B4E3K9|E1P5A9|P78434|Q16792|Q5TCM1|Q96EE6|Q9P2Z3 hg19 0.02 6.273247 ACCxCCT COVERED NOVEL SOD2-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000399943.1 12 7.934868 KEEP 64 7 174 88 2576 AA 1 1 0 - 7 25 256 0 0 16.519262 150 50 4889 427 ENST00000546087.1 0.044586 1 SOD2 6648 __UNKNOWN__ __UNKNOWN__ 6 160132329 160132329 __UNKNOWN__ Intron SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:160132329C>T ENST00000546087.1 - 4 1713 P04179 SODM_HUMAN superoxide dismutase 2, mitochondrial NA NA age-dependent response to reactive oxygen species (GO:0001315)|cellular response to ethanol (GO:0071361)|detection of oxygen (GO:0003032)|erythrophore differentiation (GO:0048773)|glutathione metabolic process (GO:0006749)|heart development (GO:0007507)|hemopoiesis (GO:0030097)|hydrogen peroxide biosynthetic process (GO:0050665)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|iron ion homeostasis (GO:0055072)|liver development (GO:0001889)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|neuron development (GO:0048666)|oxygen homeostasis (GO:0032364)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|post-embryonic development (GO:0009791)|protein homotetramerization (GO:0051289)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|respiratory electron transport chain (GO:0022904)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to gamma radiation (GO:0010332)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to lipopolysaccharide (GO:0032496)|response to manganese ion (GO:0010042)|response to selenium ion (GO:0010269)|response to silicon dioxide (GO:0034021)|response to superoxide (GO:0000303)|response to zinc ion (GO:0010043)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)|vasodilation by acetylcholine involved in regulation of systemic arterial blood pressure (GO:0003069) extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739) DNA binding (GO:0003677)|identical protein binding (GO:0042802)|manganese ion binding (GO:0030145)|oxygen binding (GO:0019825)|superoxide dismutase activity (GO:0004784) central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(3)|skin(1) 14 Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.103) OV - Ovarian serous cystadenocarcinoma(65;1.4e-18)|BRCA - Breast invasive adenocarcinoma(81;5.77e-06) ACTGCTCTGacctccataacc 0.507 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M36693 CCDS5265.1, CCDS34564.1 6q25 2008-02-05 ENSG00000112096 ENSG00000112096 6648 1.15.1.1 11180 protein-coding gene gene with protein product 147460 NA Standard NM_000636 NM_000636 NA Approved uc003qsg.3 P04179 OTTHUMG00000015940 ENST00000546087.1:c.115-18434G>A chr6.hg19:g.160132329C>T NA B2R7R1|B3KUK2|B4DL20|B4E3K9|E1P5A9|P78434|Q16792|Q5TCM1|Q96EE6|Q9P2Z3 hg19 0.02 1.674232 TGAxCTC COVERED NOVEL SOD2-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000399943.1 9 8.365834 KEEP 112 4 117 69 2487 CC 0.999997 0.999892 0 - 6 26 182 0 0 12.153854 65 40 2284 324 ENST00000546087.1 0.084507 0.999895 SOD2 6648 __UNKNOWN__ __UNKNOWN__ 6 160132454 160132454 __UNKNOWN__ Intron SNP T T C rs375264549 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:160132454T>C ENST00000546087.1 - 4 1713 P04179 SODM_HUMAN superoxide dismutase 2, mitochondrial NA NA age-dependent response to reactive oxygen species (GO:0001315)|cellular response to ethanol (GO:0071361)|detection of oxygen (GO:0003032)|erythrophore differentiation (GO:0048773)|glutathione metabolic process (GO:0006749)|heart development (GO:0007507)|hemopoiesis (GO:0030097)|hydrogen peroxide biosynthetic process (GO:0050665)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|iron ion homeostasis (GO:0055072)|liver development (GO:0001889)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|neuron development (GO:0048666)|oxygen homeostasis (GO:0032364)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|post-embryonic development (GO:0009791)|protein homotetramerization (GO:0051289)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|respiratory electron transport chain (GO:0022904)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to gamma radiation (GO:0010332)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to lipopolysaccharide (GO:0032496)|response to manganese ion (GO:0010042)|response to selenium ion (GO:0010269)|response to silicon dioxide (GO:0034021)|response to superoxide (GO:0000303)|response to zinc ion (GO:0010043)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)|vasodilation by acetylcholine involved in regulation of systemic arterial blood pressure (GO:0003069) extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739) DNA binding (GO:0003677)|identical protein binding (GO:0042802)|manganese ion binding (GO:0030145)|oxygen binding (GO:0019825)|superoxide dismutase activity (GO:0004784) central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(3)|skin(1) 14 Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.103) OV - Ovarian serous cystadenocarcinoma(65;1.4e-18)|BRCA - Breast invasive adenocarcinoma(81;5.77e-06) attgctctgatcaccataacc 0.507 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M36693 CCDS5265.1, CCDS34564.1 6q25 2008-02-05 ENSG00000112096 ENSG00000112096 6648 1.15.1.1 11180 protein-coding gene gene with protein product 147460 NA Standard NM_000636 NM_000636 NA Approved uc003qsg.3 P04179 OTTHUMG00000015940 ENST00000546087.1:c.115-18559A>G chr6.hg19:g.160132454T>C NA B2R7R1|B3KUK2|B4DL20|B4E3K9|E1P5A9|P78434|Q16792|Q5TCM1|Q96EE6|Q9P2Z3 hg19 0.02 4.364217 TGAxCAC COVERED NOVEL SOD2-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000399943.1 5 3.363012 KEEP 113 6 205 83 2422 TT 1 0.999981 0 - 8 30 299 0 0 21.616029 92 40 3253 309 ENST00000546087.1 0.08 0.999981 IGF2R 3482 __UNKNOWN__ __UNKNOWN__ 6 160485490 160485490 __UNKNOWN__ Missense_Mutation SNP G G A rs8191859 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:160485490G>A ENST00000356956.1 + 28 4092 c.3944G>A c.(3943-3945)gGg>gAg p.G1315E NM_000876.2 NP_000867 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor 1315 NA G -> E (in dbSNP:rs8191859). {ECO:0000269|Ref.5}. insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283) cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140) G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215) breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) Mecasermin(DB01277) AACTTCACGGGGGGGGACACT 0.512 NA G||| 12 0.00239617 0.0 0.0 5008 , , NA 18242 0.0119 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 98 108 105 NA NA 6 NA 160485490 2203 4300 6503 SO:0001583 missense J03528 CCDS5273.1 6q25.3 2014-09-16 ENSG00000197081 ENSG00000197081 3482 CD molecules 5467 protein-coding gene gene with protein product cation-independent mannose-6 phosphate receptor 147280 NA Standard NM_000876 NM_000876 NA Approved CD222, MPRI, MPR1, CIMPR, M6P-R uc003qta.3 P11717 OTTHUMG00000015945 ENST00000356956.1:c.3944G>A chr6.hg19:g.160485490G>A ENSP00000349437:p.Gly1315Glu NA Q7Z7G9|Q96PT5 hg19 CCDS5273.1 0.02 8.682955 CGGxGGG COVERED 6 0.0027472527472527475 0 0.0 0 0.0 6 0.01048951048951049 0 0.0 G 14.78 2.639014 0.47153 . . ENSG00000197081 ENST00000356956 T 0.01902 4.57 5.48 5.48 0.80851 Mannose-6-phosphate receptor, binding (1); 0.238839 0.44483 D 0.000441 T 0.05593 0.0147 M 0.81497 2.545 0.26045 N 0.981555 D 0.61080 0.989 P 0.60012 0.867 T 0.06427 -1.0827 10 0.66056 D 0.02 -9.087 12.6696 0.56860 0.0749:0.0:0.9251:0.0 rs8191859;rs17847642;rs8191859 1315 P11717 MPRI_HUMAN E 1315 ENSP00000349437:G1315E ENSP00000349437:G1315E G + 2 0 IGF2R 160405480 0.993000 0.37304 0.001000 0.08648 0.315000 0.28087 2.875000 0.48491 2.576000 0.86940 0.655000 0.94253 GGG NOVEL IGF2R-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000042931.1 1 12.941772 KEEP 0 0 0 43 1498 GG 1 1 0 + 13 60 468 0 0 31.808272 198 60 7339 327 ENST00000356956.1 0.061611 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 161209471 161209471 __UNKNOWN__ IGR SNP T T C rs181840416 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:161209471T>C NA NA PLG (35133 upstream) : RP11-235G24.1 (84454 downstream) NA NA NA tacctttgcctcttttaaaaa 0.408 NA T||| 6 0.00119808 0.0 0.0029 5008 , , NA 18577 0.0 NA 0.0 False NA ,,, NA NA NA 2504 0.0041 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.161209471T>C NA hg19 0.02 -0.28951 GCCxCTT COVERED NOVEL 0 0 3.611276 KEEP 0 0 0 12 396 TT 0.993634 0.756043 0 11 60 396 0 0 35.725891 22 60 810 58 0.333333 0.760887 AGPAT4 56895 __UNKNOWN__ __UNKNOWN__ 6 161555903 161555903 __UNKNOWN__ 3'UTR SNP C C T rs3822853 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:161555903C>T ENST00000320285.4 - 0 3018 AGPAT4_ENST00000366911.5_3'UTR NM_020133.2 NP_064518.1 Q9NRZ5 PLCD_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 4 NA NA CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) 1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841) endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2) 25 Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285) OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05) CTGGGCGCTCCCATCAAGCCT 0.592 NA C||| 556 0.111022 0.0144 0.2839 5008 , , NA 18930 0.1835 NA 0.1074 False NA ,,, NA NA NA 2504 0.0481 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF156776 CCDS5280.1 6q25.3 2013-02-05 2013-02-05 ENSG00000026652 ENSG00000026652 56895 2.3.1.51 1-acylglycerol-3-phosphate O-acyltransferases 20885 protein-coding gene gene with protein product lysophosphatidic acid acyltransferase, delta 614795 1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta) NA Standard NM_020133 XM_005267052 NA Approved LPAAT-delta, dJ473J16.2 uc003qtr.1 Q9NRZ5 OTTHUMG00000015966 ENST00000320285.4:c.*1669G>A chr6.hg19:g.161555903C>T NA B4DSF9|Q5TEF0 hg19 CCDS5280.1 0.02 9.768906 CTCxCAT COVERED NOVEL AGPAT4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000042983.1 2 13.242411 KEEP 0 0 0 44 1521 CC 1 1 0 - 13 60 487 0 0 33.93113 190 60 7007 290 ENST00000320285.4 0.064039 1 AGPAT4 56895 __UNKNOWN__ __UNKNOWN__ 6 161556411 161556411 __UNKNOWN__ 3'UTR SNP T T A rs56073227 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:161556411T>A ENST00000320285.4 - 0 2510 AGPAT4_ENST00000366911.5_3'UTR NM_020133.2 NP_064518.1 Q9NRZ5 PLCD_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 4 NA NA CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) 1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841) endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2) 25 Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285) OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05) TTCTTCTTCTTTTGCATTTTT 0.448 NA T||| 699 0.139577 0.0287 0.3314 5008 , , NA 22047 0.1855 NA 0.1918 False NA ,,, NA NA NA 2504 0.0521 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF156776 CCDS5280.1 6q25.3 2013-02-05 2013-02-05 ENSG00000026652 ENSG00000026652 56895 2.3.1.51 1-acylglycerol-3-phosphate O-acyltransferases 20885 protein-coding gene gene with protein product lysophosphatidic acid acyltransferase, delta 614795 1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta) NA Standard NM_020133 XM_005267052 NA Approved LPAAT-delta, dJ473J16.2 uc003qtr.1 Q9NRZ5 OTTHUMG00000015966 ENST00000320285.4:c.*1161A>T chr6.hg19:g.161556411T>A NA B4DSF9|Q5TEF0 hg19 CCDS5280.1 0.02 4.436822 TCTxTTG COVERED NOVEL AGPAT4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000042983.1 1 9.025387 KEEP 0 0 0 30 899 TT 0.999997 0.999986 0 - 6 60 224 0 0 15.22664 101 60 3584 158 ENST00000320285.4 0.056075 0.999989 AGPAT4 56895 __UNKNOWN__ __UNKNOWN__ 6 161557783 161557783 __UNKNOWN__ Intron SNP G G T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:161557783G>T ENST00000320285.4 - 9 1255 AGPAT4_ENST00000366911.5_Intron|AGPAT4_ENST00000457520.2_Intron NM_020133.2 NP_064518.1 Q9NRZ5 PLCD_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 4 NA NA CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) 1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841) endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2) 25 Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285) OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05) CTCAGAGCTGGCTGGCGGGTT 0.552 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF156776 CCDS5280.1 6q25.3 2013-02-05 2013-02-05 ENSG00000026652 ENSG00000026652 56895 2.3.1.51 1-acylglycerol-3-phosphate O-acyltransferases 20885 protein-coding gene gene with protein product lysophosphatidic acid acyltransferase, delta 614795 1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta) NA Standard NM_020133 XM_005267052 NA Approved LPAAT-delta, dJ473J16.2 uc003qtr.1 Q9NRZ5 OTTHUMG00000015966 ENST00000320285.4:c.1043-117C>A chr6.hg19:g.161557783G>T NA B4DSF9|Q5TEF0 hg19 CCDS5280.1 0.02 0.699806 CTGxCTG COVERED NOVEL AGPAT4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000042983.1 0 3.276873 KEEP 0 0 0 11 268 GG 0.993072 0.993003 0 - 11 60 157 0 0 7.044188 80 60 1992 109 ENST00000320285.4 0.120879 0.99993 QKI 9444 __UNKNOWN__ __UNKNOWN__ 6 163985655 163985655 __UNKNOWN__ Intron SNP G G A rs41268571 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:163985655G>A ENST00000361752.3 + 6 1485 QKI_ENST00000275262.7_Intron|QKI_ENST00000392127.2_3'UTR|QKI_ENST00000453779.2_Intron|QKI_ENST00000361195.2_Intron|QKI_ENST00000424802.3_Intron NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2 NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1 Q96PU8 QKI_HUMAN QKI, KH domain containing, RNA binding NA NA long-chain fatty acid biosynthetic process (GO:0042759)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|muscle cell differentiation (GO:0042692)|myelination (GO:0042552)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|spermatid development (GO:0007286)|vasculogenesis (GO:0001570) cytoplasm (GO:0005737)|nucleus (GO:0005634) poly(A) RNA binding (GO:0044822) central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2) 27 Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203) all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234) TGAACAAAAAGTGGTGTGCTC 0.333 NA G||| 719 0.14357 0.1029 0.1643 5008 , , NA 19188 0.2302 NA 0.0835 False NA ,,, NA NA NA 2504 0.1564 NA NA NA NA 0 G ,,, 395,4011 191.6+/-217.2 19,357,1827 90 86 87 ,,, 2.3 0.8 6 dbSNP_127 87 726,7874 170.0+/-221.2 23,680,3597 no intron,intron,intron,utr-3 QKI NM_006775.2,NM_206853.2,NM_206854.2,NM_206855.2 ,,, 42,1037,5424 AA,AG,GG 8.4419,8.965,8.6191 ,,, ,,, 163985655 1121,11885 2203 4300 6503 SO:0001627 intron_variant AB067798 CCDS5285.1, CCDS5286.1, CCDS5287.1, CCDS43525.1, CCDS75546.1 6q26 2011-09-12 2011-09-12 ENSG00000112531 ENSG00000112531 9444 21100 protein-coding gene gene with protein product 609590 quaking homolog, KH domain RNA binding (mouse) NA 10535969 Standard NM_006775 NM_006775 NA Approved QK3 uc003qui.3 Q96PU8 OTTHUMG00000015977 ENST00000361752.3:c.934+904G>A chr6.hg19:g.163985655G>A NA Q2I375|Q5MJQ1|Q969L9|Q96EJ3|Q96KA3|Q96PU6|Q96PU7|Q9P0X6|Q9P0X7|Q9P0X8|Q9P0X9|Q9P0Y0|Q9P0Y1 hg19 CCDS5285.1 0.02 19.880412 AAAxTGG COVERED NOVEL QKI-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000043016.2 4 20.466349 KEEP 0 0 0 68 2460 GG 1 1 0 + 15 60 538 0 0 31.422375 508 60 19160 676 ENST00000361752.3 0.028681 1 QKI 9444 __UNKNOWN__ __UNKNOWN__ 6 163990308 163990308 __UNKNOWN__ Intron SNP A A T rs3756879 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:163990308A>T ENST00000361752.3 + 8 1560 QKI_ENST00000275262.7_3'UTR|QKI_ENST00000392127.2_3'UTR|QKI_ENST00000453779.2_3'UTR|QKI_ENST00000361195.2_Intron NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2 NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1 Q96PU8 QKI_HUMAN QKI, KH domain containing, RNA binding NA NA long-chain fatty acid biosynthetic process (GO:0042759)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|muscle cell differentiation (GO:0042692)|myelination (GO:0042552)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|spermatid development (GO:0007286)|vasculogenesis (GO:0001570) cytoplasm (GO:0005737)|nucleus (GO:0005634) poly(A) RNA binding (GO:0044822) central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2) 27 Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203) all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234) ACTGTTCTAAATGATAGACTA 0.264 NA A||| 711 0.141973 0.1029 0.1657 5008 , , NA 16484 0.2292 NA 0.0835 False NA ,,, NA NA NA 2504 0.1483 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB067798 CCDS5285.1, CCDS5286.1, CCDS5287.1, CCDS43525.1, CCDS75546.1 6q26 2011-09-12 2011-09-12 ENSG00000112531 ENSG00000112531 9444 21100 protein-coding gene gene with protein product 609590 quaking homolog, KH domain RNA binding (mouse) NA 10535969 Standard NM_006775 NM_006775 NA Approved QK3 uc003qui.3 Q96PU8 OTTHUMG00000015977 ENST00000361752.3:c.1010-1418A>T chr6.hg19:g.163990308A>T NA Q2I375|Q5MJQ1|Q969L9|Q96EJ3|Q96KA3|Q96PU6|Q96PU7|Q9P0X6|Q9P0X7|Q9P0X8|Q9P0X9|Q9P0Y0|Q9P0Y1 hg19 CCDS5285.1 0.02 14.907081 TAAxTGA COVERED NOVEL QKI-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000043016.2 2 6.619621 KEEP 0 0 0 22 686 AA 0.999879 0.999879 0 + 20 60 743 0 0 49.391671 379 60 13380 426 ENST00000361752.3 0.050125 1 RNASET2 8635 __UNKNOWN__ __UNKNOWN__ 6 167352075 167352075 __UNKNOWN__ Intron SNP G G C rs3777721 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:167352075G>C ENST00000508775.1 - 6 966 RP11-514O12.4_ENST00000507747.1_Intron|RNASET2_ENST00000366855.6_Intron|RNASET2_ENST00000476238.2_Intron|RNASET2_ENST00000496851.2_Intron NM_003730.4 NP_003721.2 O00584 RNT2_HUMAN ribonuclease T2 NA NA RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501) endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764) ribonuclease activity (GO:0004540)|ribonuclease T2 activity (GO:0033897)|RNA binding (GO:0003723) large_intestine(4)|lung(4) 8 Breast(66;1.53e-05)|Ovarian(120;0.0606) OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665) AGGAATCATGGCTGAGAACGG 0.488 NA G||| 212 0.0423323 0.003 0.0403 5008 , , NA 21777 0.0784 NA 0.0577 False NA ,,, NA NA NA 2504 0.044 NA NA NA NA 0 G 21,1731 0,21,855 152 138 142 -0.3 0 6 dbSNP_107 142 247,3735 4,239,1748 no intron RNASET2 NM_003730.4 4,260,2603 CC,CG,GG 6.2029,1.1986,4.6739 167352075 268,5466 876 1991 2867 SO:0001627 intron_variant AJ419866 CCDS5295.1 6q27 2014-05-20 ENSG00000026297 ENSG00000026297 8635 21686 protein-coding gene gene with protein product 612944 NA 9192857 Standard NM_003730 NM_003730 NA Approved RNASE6PL, FLJ10907, bA514O12.3 uc003qve.3 O00584 OTTHUMG00000016009 ENST00000508775.1:c.446+307C>G chr6.hg19:g.167352075G>C NA B2RDA7|E1P5C3|Q5T8Q0|Q8TCU2|Q9BZ46|Q9BZ47 hg19 CCDS5295.1 0.02 6.652434 ATGxCTG COVERED 108 0.04945054945054945 1 0.0020325203252032522 20 0.055248618784530384 43 0.07517482517482517 44 0.05804749340369393 G 2.332 -0.353060 0.05173 0.011986 0.062029 ENSG00000026297 ENST00000310843 . . . 1.64 -0.324 0.12706 . . . . . T 0.13670 0.0331 . . . 0.09310 N 1 . . . . . . T 0.34229 -0.9837 5 0.87932 D 0 . 2.0353 0.03538 0.2074:0.0:0.4768:0.3158 rs3777721;rs52821583;rs3777721 . . . R 235 . ENSP00000308991:S235R S - 3 2 RNASET2 167272065 0.000000 0.05858 0.001000 0.08648 0.023000 0.10783 -0.386000 0.07370 -0.122000 0.11766 0.462000 0.41574 AGC NOVEL RNASET2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000043089.2 1 6.320787 KEEP 0 0 0 21 758 GG 0.999869 0.999869 0 - 7 60 235 0 0 14.362477 154 60 5538 209 ENST00000508775.1 0.043478 1 FGFR1OP 11116 __UNKNOWN__ __UNKNOWN__ 6 167440128 167440128 __UNKNOWN__ Intron SNP C C T rs2282861 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:167440128C>T ENST00000366847.4 + 10 1219 RP11-517H2.6_ENST00000609590.1_RNA|FGFR1OP_ENST00000349556.4_Intron NM_007045.2 NP_008976.1 O95684 FR1OP_HUMAN FGFR1 oncogene partner NA NA G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|mitotic cell cycle (GO:0000278)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein tyrosine kinase activity (GO:0061099)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284) centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471) protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|protein tyrosine kinase inhibitor activity (GO:0030292) large_intestine(2)|ovary(1)|stomach(1) 4 Breast(66;1.48e-05)|Ovarian(120;0.0607) OV - Ovarian serous cystadenocarcinoma(33;1.73e-19)|BRCA - Breast invasive adenocarcinoma(81;5.1e-06)|GBM - Glioblastoma multiforme(31;0.00231) AGTTTTTGTGCTGATCGTTTT 0.388 NA T FGFR1 MPD, NHL T||| 1955 0.390375 0.3555 0.3631 5008 , , NA 20316 0.4534 NA 0.4473 False NA ,,, NA NA NA 2504 0.3333 NA NA NA Dom yes 6 6q27 11116 FGFR1 oncogene partner (FOP) L 0 T , 1645,2757 646.8+/-398.4 311,1023,867 89 84 86 , -2.7 0 6 dbSNP_100 86 4021,4579 590.4+/-392.7 924,2173,1203 no intron,intron FGFR1OP NM_007045.2,NM_194429.1 , 1235,3196,2070 TT,TC,CC 46.7558,37.3694,43.5779 , , 167440128 5666,7336 2201 4300 6501 SO:0001627 intron_variant Y18046 CCDS5296.1, CCDS5297.1, CCDS75550.1 6q27 2008-02-05 ENSG00000213066 ENSG00000213066 11116 17012 protein-coding gene gene with protein product 605392 NA 9949182, 10373756 Standard NM_007045 NM_007045 NA Approved FOP uc003qvj.3 O95684 OTTHUMG00000016011 ENST00000366847.4:c.988+25C>T chr6.hg19:g.167440128C>T NA A8K1D1|B2R705|Q49AI0|Q5R3F6|Q96EW1 hg19 CCDS5296.1 0.02 8.294296 GTGxTGA COVERED NOVEL FGFR1OP-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000043099.2 1 15.95204 KEEP 0 0 0 53 1896 CC 1 1 0 + 9 60 305 0 0 18.673538 203 60 7632 325 ENST00000366847.4 0.042453 1 FGFR1OP 11116 __UNKNOWN__ __UNKNOWN__ 6 167440244 167440244 __UNKNOWN__ Intron SNP T T C rs2282860 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:167440244T>C ENST00000366847.4 + 10 1219 RP11-517H2.6_ENST00000609590.1_RNA|FGFR1OP_ENST00000349556.4_Intron NM_007045.2 NP_008976.1 O95684 FR1OP_HUMAN FGFR1 oncogene partner NA NA G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|mitotic cell cycle (GO:0000278)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein tyrosine kinase activity (GO:0061099)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284) centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471) protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|protein tyrosine kinase inhibitor activity (GO:0030292) large_intestine(2)|ovary(1)|stomach(1) 4 Breast(66;1.48e-05)|Ovarian(120;0.0607) OV - Ovarian serous cystadenocarcinoma(33;1.73e-19)|BRCA - Breast invasive adenocarcinoma(81;5.1e-06)|GBM - Glioblastoma multiforme(31;0.00231) ATGGCTTTTATGTGTTCAGGA 0.453 NA T FGFR1 MPD, NHL T||| 1956 0.390575 0.3555 0.3631 5008 , , NA 21304 0.4544 NA 0.4473 False NA ,,, NA NA NA 2504 0.3333 NA NA NA Dom yes 6 6q27 11116 FGFR1 oncogene partner (FOP) L 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Y18046 CCDS5296.1, CCDS5297.1, CCDS75550.1 6q27 2008-02-05 ENSG00000213066 ENSG00000213066 11116 17012 protein-coding gene gene with protein product 605392 NA 9949182, 10373756 Standard NM_007045 NM_007045 NA Approved FOP uc003qvj.3 O95684 OTTHUMG00000016011 ENST00000366847.4:c.988+141T>C chr6.hg19:g.167440244T>C NA A8K1D1|B2R705|Q49AI0|Q5R3F6|Q96EW1 hg19 CCDS5296.1 0.02 2.987906 TTAxGTG COVERED NOVEL FGFR1OP-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000043099.2 0 6.919518 KEEP 0 0 0 23 699 TT 0.999892 0.999892 0 + 6 60 187 0 0 10.902608 130 60 4819 181 ENST00000366847.4 0.044118 1 CCR6 1235 __UNKNOWN__ __UNKNOWN__ 6 167549660 167549660 __UNKNOWN__ Intron SNP T T C rs193057414 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:167549660T>C ENST00000341935.5 + 2 561 CCR6_ENST00000349984.4_Intron|RP11-517H2.6_ENST00000609590.1_RNA|CCR6_ENST00000400926.2_Intron NM_031409.3 NP_113597.2 P51684 CCR6_HUMAN chemokine (C-C motif) receptor 6 NA NA cellular component movement (GO:0006928)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|humoral immune response (GO:0006959)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|signal transduction (GO:0007165) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)|receptor activity (GO:0004872) endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1) 14 Breast(66;1.53e-05)|Ovarian(120;0.0606) OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507) GCAAGGGGTATAATTTGGGTT 0.423 NA T||| 9 0.00179712 0.0 0.0 5008 , , NA 20822 0.0089 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 203 199 200 NA NA 6 NA 167549660 2203 4300 6503 SO:0001627 intron_variant U68030 CCDS5298.1 6q27 2012-08-08 ENSG00000112486 ENSG00000112486 1235 GPCR / Class A : Chemokine receptors : C-C motif, CD molecules 1607 protein-coding gene gene with protein product 601835 STRL22 NA 8886020 Standard NM_031409 NA Approved CKR-L3, GPR-CY4, CMKBR6, GPR29, DRY-6, DCR2, BN-1, CD196 uc010kkm.3 P51684 OTTHUMG00000016015 ENST00000341935.5:c.9+29T>C chr6.hg19:g.167549660T>C NA E1P5C6|P78553|Q92846 hg19 CCDS5298.1 0.02 36.2422 GTAxAAT COVERED NOVEL CCR6-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000043118.1 3 30.386911 KEEP 0 0 0 101 3087 TT 1 1 0 + 22 60 835 1 0 49.932659 806 60 28739 1108 ENST00000341935.5 0.02657 1 TCP10L2 401285 __UNKNOWN__ __UNKNOWN__ 6 167592285 167592285 __UNKNOWN__ Intron SNP G G T rs372881768 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:167592285G>T ENST00000366832.2 + 6 788 NM_001145121.1 NP_001138593.1 B9ZVM9 TCP2L_HUMAN t-complex 10-like 2 NA NA endometrium(1)|kidney(2)|lung(3) 6 TCAATTACTTGCCCGAGCTCC 0.378 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS47514.1 6q27 2012-09-20 2012-09-20 ENSG00000166984 ENSG00000166984 401285 21254 protein-coding gene gene with protein product t-complex 10-like 2 (mouse) NA Standard XR_040749 NM_001145121 NA Approved bA517H2.3 uc010kkp.3 B9ZVM9 OTTHUMG00000016014 ENST00000366832.2:c.658-214G>T chr6.hg19:g.167592285G>T NA hg19 CCDS47514.1 0.02 16.562785 CTTxCCC COVERED NOVEL TCP10L2-001 NOVEL not_best_in_genome_evidence|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000043112.5 3 18.031977 KEEP 12 0 0 60 2102 GG 1 1 0 + 24 40 809 0 0 52.150241 414 50 15907 608 ENST00000366832.2 0.054795 1 TCP10L2 401285 __UNKNOWN__ __UNKNOWN__ 6 167592576 167592576 __UNKNOWN__ Silent SNP G G A rs60976240 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:167592576G>A ENST00000366832.2 + 6 866 c.735G>A c.(733-735)acG>acA p.T245T NM_001145121.1 NP_001138593.1 B9ZVM9 TCP2L_HUMAN t-complex 10-like 2 245 NA endometrium(1)|kidney(2)|lung(3) 6 AGGCCGCCACGCTGCAGGAGC 0.582 NA G||| 3206 0.640176 0.7617 0.6614 5008 , , NA 17779 0.5694 NA 0.5984 False NA ,,, NA NA NA 2504 0.5767 NA NA NA NA 0 23 28 27 NA NA 6 NA 167592576 692 1591 2283 SO:0001819 synonymous_variant CCDS47514.1 6q27 2012-09-20 2012-09-20 ENSG00000166984 ENSG00000166984 401285 21254 protein-coding gene gene with protein product t-complex 10-like 2 (mouse) NA Standard XR_040749 NM_001145121 NA Approved bA517H2.3 uc010kkp.3 B9ZVM9 OTTHUMG00000016014 ENST00000366832.2:c.735G>A chr6.hg19:g.167592576G>A NA hg19 CCDS47514.1 0.02 19.158879 CACxCTG COVERED NOVEL TCP10L2-001 NOVEL not_best_in_genome_evidence|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000043112.5 3 11.434757 KEEP 18 0 0 38 1264 GG 1 1 0 + 15 60 521 0 0 31.200287 406 60 13942 573 ENST00000366832.2 0.035629 1 UNC93A 54346 __UNKNOWN__ __UNKNOWN__ 6 167711418 167711418 __UNKNOWN__ Intron SNP A A G rs1555033 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:167711418A>G ENST00000230256.3 + 4 674 UNC93A_ENST00000366829.2_Intron NM_018974.3 NP_061847.2 Q86WB7 UN93A_HUMAN unc-93 homolog A (C. elegans) NA NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 40 Breast(66;7.62e-05)|Ovarian(120;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) TCTCCTGTCCACTCTGACTTC 0.542 NA G||| 1026 0.204872 0.2995 0.1441 5008 , , NA 20482 0.2212 NA 0.1759 False NA ,,, NA NA NA 2504 0.1329 NA NA NA NA 0 G , 1301,3105 697.3+/-406.2 200,901,1102 124 114 117 , 1.2 0 6 dbSNP_88 117 1709,6891 737.4+/-407.0 156,1397,2747 no intron,intron UNC93A NM_001143947.1,NM_018974.3 , 356,2298,3849 GG,GA,AA 19.8721,29.5279,23.1432 , , 167711418 3010,9996 2203 4300 6503 SO:0001627 intron_variant AJ508812 CCDS5300.1, CCDS47515.1 6q27 2014-05-16 2001-11-28 ENSG00000112494 ENSG00000112494 54346 12570 protein-coding gene gene with protein product 607995 unc93 (C.elegans) homolog A NA 12381271 Standard NM_018974 NM_001143947 NA Approved dJ366N23.2, dJ366N23.1 uc003qvq.3 Q86WB7 OTTHUMG00000016021 ENST00000230256.3:c.500-15A>G chr6.hg19:g.167711418A>G NA B3KRP5|Q4QQJ4|Q5JZD6 hg19 CCDS5300.1 0.02 10.514918 TCCxCTC COVERED NOVEL UNC93A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000043125.2 4 11.730889 KEEP 0 0 0 39 1191 AA 1 1 0 + 10 60 327 0 0 18.989421 278 60 9696 397 ENST00000230256.3 0.034722 1 TTLL2 83887 __UNKNOWN__ __UNKNOWN__ 6 167753691 167753691 __UNKNOWN__ Silent SNP C C T rs877653 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:167753691C>T ENST00000239587.5 + 3 391 c.303C>T c.(301-303)agC>agT p.S101S NM_031949.4 NP_114155.4 Q9BWV7 TTLL2_HUMAN tubulin tyrosine ligase-like family, member 2 101 TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}. NA cellular protein modification process (GO:0006464) ligase activity (GO:0016874) central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(66;7.8e-06)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) TGGTGCAAAGCGTCCTCCTGG 0.542 NA C||| 1552 0.309904 0.1679 0.2824 5008 , , NA 20342 0.5079 NA 0.2664 False NA ,,, NA NA NA 2504 0.362 NA NA NA NA 0 C 840,3566 329.6+/-301.1 80,680,1443 62 57 59 303 -6 0.2 6 dbSNP_86 59 2537,6063 415.1+/-351.7 364,1809,2127 no coding-synonymous TTLL2 NM_031949.4 444,2489,3570 TT,TC,CC 29.5,19.0649,25.9649 101/593 167753691 3377,9629 2203 4300 6503 SO:0001819 synonymous_variant AK093039 CCDS5301.1 6q27 2013-02-14 2004-01-14 ENSG00000120440 ENSG00000120440 83887 Tubulin tyrosine ligase-like family 21211 protein-coding gene gene with protein product chromosome 6 open reading frame 104 C6orf104 NA 11054573 Standard NM_031949 XM_006715572 NA Approved NYD-TSPG, dJ366N23.3 uc003qvs.1 Q9BWV7 OTTHUMG00000016023 ENST00000239587.5:c.303C>T chr6.hg19:g.167753691C>T NA B2RB11|B3KS77|Q7Z6R8|Q86X22 hg19 CCDS5301.1 0.02 8.463107 AAGxGTC COVERED NOVEL TTLL2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000043127.3 1 7.825115 KEEP 0 0 0 26 890 CC 0.999957 0.999957 0 + 10 60 354 0 0 22.38266 217 60 7485 296 ENST00000239587.5 0.044053 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 167809771 167809771 __UNKNOWN__ IGR SNP G G A rs6921101 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:167809771G>A NA NA TCP10 (11773 upstream) : RP11-351J23.2 (257748 downstream) NA NA NA GCATTGTACTGTGCTGATGGT 0.517 NA a||| 2615 0.522165 0.4523 0.6023 5008 , , NA 18918 0.6597 NA 0.4374 False NA ,,, NA NA NA 2504 0.5051 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.167809771G>A NA hg19 0.02 6.789156 ACTxTGC COVERED NOVEL 0 1 3.611553 KEEP 0 0 0 12 416 GG 0.993634 0.993634 0 13 60 487 0 0 35.037054 155 60 5734 197 0.077381 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 168060138 168060138 __UNKNOWN__ IGR SNP G G A rs113701765 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:168060138G>A NA NA TCP10 (262140 upstream) : RP11-351J23.2 (7381 downstream) NA NA NA TTCAGTCACTGCTCTGGAGCT 0.562 NA N||| 606 0.121006 0.0764 0.0879 5008 , , NA 20861 0.1736 NA 0.1431 False NA ,,, NA NA NA 2504 0.1278 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.168060138G>A NA hg19 0.02 5.827492 ACTxCTC COVERED NOVEL 0 0 14.446574 KEEP 0 0 0 48 1692 GG 1 1 0 9 60 315 0 0 19.903471 189 60 7224 305 0.045455 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 168060156 168060156 __UNKNOWN__ IGR SNP A A G rs34657158 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:168060156A>G NA NA TCP10 (262158 upstream) : RP11-351J23.2 (7363 downstream) NA NA NA GCTGGTCTGCAAAGGGGCTCA 0.552 NA N||| 1583 0.316094 0.3101 0.2695 5008 , , NA 20811 0.371 NA 0.2932 False NA ,,, NA NA NA 2504 0.3241 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.168060156A>G NA hg19 0.02 8.335012 TGCxAAG COVERED NOVEL 0 1 16.850681 KEEP 0 0 0 56 1762 AA 1 1 0 9 60 316 0 0 19.407734 221 60 8142 369 0.03913 1 MLLT4 4301 __UNKNOWN__ __UNKNOWN__ 6 168284702 168284702 __UNKNOWN__ Intron SNP T T C rs9346629 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:168284702T>C ENST00000447894.2 + 6 897 MLLT4_ENST00000392108.3_Intron|MLLT4_ENST00000366806.2_Intron|MLLT4_ENST00000392112.1_Intron|MLLT4_ENST00000351017.4_Intron|MLLT4_ENST00000344191.4_Intron|MLLT4_ENST00000400822.3_Intron P55196 AFAD_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 NA NA adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165) apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886) protein C-terminus binding (GO:0008022) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(66;1.07e-05)|Ovarian(120;0.024) Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117) tgaaatcctttgttttcattt 0.358 NA T MLL AL T||| 1793 0.358027 0.1483 0.3501 5008 , , NA 20089 0.5972 NA 0.329 False NA ,,, NA NA NA 2504 0.4305 NA NA NA Dom yes 6 6q27 4301 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6) L 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB011399 CCDS47517.1, CCDS75553.1 6q27 2008-02-05 2001-11-28 ENSG00000130396 ENSG00000130396 4301 7137 protein-coding gene gene with protein product 159559 myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4 NA 8242616 Standard NM_005936 NM_001040000 NA Approved AF-6, AF6 uc021zij.1 P55196 OTTHUMG00000016031 ENST00000447894.2:c.897+3505T>C chr6.hg19:g.168284702T>C NA O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92 hg19 0.02 -0.078955 CTTxGTT UNCOVERED NOVEL MLLT4-013 PUTATIVE basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000372077.1 5 2.406781 KEEP 6 0 0 8 236 TT 0 0 0 + 7 60 244 0 0 25.66832 2 60 75 19 ENST00000447894.2 0.777778 0.077336 KIF25 3834 __UNKNOWN__ __UNKNOWN__ 6 168436663 168436663 __UNKNOWN__ Intron SNP C C T rs2306944 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:168436663C>T ENST00000443060.2 + 5 708 KIF25_ENST00000351261.3_Intron|KIF25_ENST00000354419.2_Intron Q9UIL4 KIF25_HUMAN kinesin family member 25 NA NA ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of autophagy (GO:0010507)|organelle organization (GO:0006996) cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777) NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 29 Breast(66;1.07e-05)|Ovarian(120;0.0728) Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756) AAGTTGCAAACGGCCCTCTGC 0.517 NA C||| 486 0.0970447 0.0015 0.049 5008 , , NA 19675 0.2103 NA 0.0417 False NA ,,, NA NA NA 2504 0.2004 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB012722 CCDS5305.1, CCDS43530.1 6q27 2008-02-05 2003-01-09 2003-01-10 ENSG00000125337 ENSG00000125337 3834 Kinesins 6390 protein-coding gene gene with protein product 603815 kinesin-like 3 KNSL3 NA 9925910 Standard NM_030615 NA Approved uc003qwk.1 Q9UIL4 OTTHUMG00000016035 ENST00000443060.2:c.317+1952C>T chr6.hg19:g.168436663C>T NA O94775|Q5SZU9 hg19 CCDS5305.1 0.02 4.138918 AAAxGGC COVERED NOVEL KIF25-004 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000362509.1 3 12.636026 KEEP 0 0 0 42 1410 CC 1 1 0 + 8 60 295 0 0 19.978544 133 60 4512 215 ENST00000443060.2 0.056738 1 KIF25 3834 __UNKNOWN__ __UNKNOWN__ 6 168442765 168442765 __UNKNOWN__ Missense_Mutation SNP G G A rs2073634 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:168442765G>A ENST00000443060.2 + 8 1154 c.763G>A c.(763-765)Gca>Aca p.A255T KIF25_ENST00000351261.3_Missense_Mutation_p.A255T|KIF25_ENST00000354419.2_Missense_Mutation_p.A255T Q9UIL4 KIF25_HUMAN kinesin family member 25 255 Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}. NA A -> T (in dbSNP:rs2073634). ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of autophagy (GO:0010507)|organelle organization (GO:0006996) cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777) NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 29 Breast(66;1.07e-05)|Ovarian(120;0.0728) Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756) TGGGAACCCCGCAGGGCATGC 0.672 NA G||| 570 0.113818 0.0091 0.085 5008 , , NA 17441 0.2133 NA 0.0805 False NA ,,, NA NA NA 2504 0.2076 NA NA NA NA 0 G THR/ALA,THR/ALA 93,4165 5,83,2041 25 24 24 763,763 -2.5 0 6 dbSNP_96 24 672,7712 22,628,3542 yes missense,missense KIF25 NM_005355.3,NM_030615.2 58,58 27,711,5583 AA,AG,GG 8.0153,2.1841,6.0513 benign,benign 255/333,255/385 168442765 765,11877 2129 4192 6321 SO:0001583 missense AB012722 CCDS5305.1, CCDS43530.1 6q27 2008-02-05 2003-01-09 2003-01-10 ENSG00000125337 ENSG00000125337 3834 Kinesins 6390 protein-coding gene gene with protein product 603815 kinesin-like 3 KNSL3 NA 9925910 Standard NM_030615 NA Approved uc003qwk.1 Q9UIL4 OTTHUMG00000016035 ENST00000443060.2:c.763G>A chr6.hg19:g.168442765G>A ENSP00000388878:p.Ala255Thr NA O94775|Q5SZU9 hg19 CCDS5305.1 0.02 2.296366 CCCxCAG COVERED 225 0.10302197802197802 7 0.014227642276422764 34 0.09392265193370165 123 0.21503496503496503 61 0.08047493403693931 G 6.328 0.428658 0.11987 0.021841 0.080153 ENSG00000125337 ENST00000443060;ENST00000354419;ENST00000351261 T;T;T 0.72394 -0.65;-0.65;-0.01 3.16 -2.49 0.06403 Kinesin, motor domain (3); 8.679060 0.00166 N 0.000008 T 0.16041 0.0386 N 0.02854 -0.475 0.80722 P 0.0 B;P 0.35745 0.142;0.518 B;B 0.23574 0.033;0.047 T 0.15549 -1.0433 9 0.46703 T 0.11 -1.071 0.4999 0.00578 0.3585:0.1778:0.283:0.1807 rs2073634;rs59155379;rs2073634 255;255 Q9UIL4-2;Q9UIL4 .;KIF25_HUMAN T 255 ENSP00000388878:A255T;ENSP00000346401:A255T;ENSP00000252688:A255T ENSP00000252688:A255T A + 1 0 KIF25 168185614 0.000000 0.05858 0.000000 0.03702 0.026000 0.11368 -0.340000 0.07821 -0.443000 0.07180 -0.474000 0.04947 GCA NOVEL KIF25-004 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000362509.1 0 4.212942 KEEP 0 0 0 14 471 GG 0.995343 0.974965 0 + 5 60 164 0 0 11.489829 51 60 1881 83 ENST00000443060.2 0.089286 0.979526 DACT2 168002 __UNKNOWN__ __UNKNOWN__ 6 168708045 168708045 __UNKNOWN__ 3'UTR SNP T T C rs12530360 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:168708045T>C ENST00000366795.3 - 0 2480 DACT2_ENST00000366796.3_Intron|DACT2_ENST00000610183.1_3'UTR|DACT2_ENST00000607983.1_3'UTR NM_214462.3 NP_999627.2 Q5SW24 DACT2_HUMAN dishevelled-binding antagonist of beta-catenin 2 NA NA epithelial cell morphogenesis (GO:0003382)|hematopoietic progenitor cell differentiation (GO:0002244)|inner medullary collecting duct development (GO:0072061)|negative regulation of cell adhesion (GO:0007162)|negative regulation of nodal signaling pathway (GO:1900108)|skin development (GO:0043588) mitochondrion (GO:0005739) beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)|transcription factor binding (GO:0008134) endometrium(1) 1 Breast(66;1.46e-05)|Ovarian(120;0.0728) OV - Ovarian serous cystadenocarcinoma(33;5.33e-21)|BRCA - Breast invasive adenocarcinoma(81;1.18e-06)|GBM - Glioblastoma multiforme(31;0.000957) AACCCAGACATGCACAGGACA 0.582 NA T||| 631 0.125998 0.0923 0.1138 5008 , , NA 18964 0.122 NA 0.1431 False NA ,,, NA NA NA 2504 0.1667 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF318336 CCDS47519.1, CCDS69241.1, CCDS75554.1 6q27 2013-05-15 2013-05-15 2003-09-17 ENSG00000164488 ENSG00000164488 168002 21231 protein-coding gene gene with protein product 608966 chromosome 6 open reading frame 116, dapper homolog 2, antagonist of beta-catenin (xenopus), dapper, antagonist of beta-catenin, homolog 2 (Xenopus laevis) C6orf116 NA Standard NM_001286351 NA Approved bA503C24.7, DAPPER2 uc003qwq.3 Q5SW24 OTTHUMG00000016046 ENST00000366795.3:c.*67A>G chr6.hg19:g.168708045T>C NA Q2NKJ2|Q569G0|Q8WYW2 hg19 CCDS47519.1 0.02 12.3669 ACAxGCA COVERED NOVEL DACT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000043193.1 1 17.414202 KEEP 0 0 0 58 1728 TT 1 1 0 - 11 60 401 0 0 24.143905 338 60 12276 497 ENST00000366795.3 0.031519 1 THBS2 7058 __UNKNOWN__ __UNKNOWN__ 6 169617429 169617429 __UNKNOWN__ 3'UTR SNP A A G rs1132755|rs386708878|rs66847991 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:169617429A>G ENST00000366787.3 - 0 4256 XXyac-YX65C7_A.2_ENST00000444188.1_RNA NM_003247.2 NP_003238.2 P35442 TSP2_HUMAN thrombospondin 2 NA NA cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965) basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091) calcium ion binding (GO:0005509)|heparin binding (GO:0008201) NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 111 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) AATTTATTTAATGGGATTTGT 0.308 NA a||| 1116 0.222843 0.2867 0.2219 5008 , , NA 17551 0.1528 NA 0.2058 False NA ,,, NA NA NA 2504 0.227 NA NA NA Esophageal Squamous(91;219 1934 18562 44706) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS34574.1 6q27 2008-07-28 ENSG00000186340 ENSG00000186340 7058 11786 protein-coding gene gene with protein product 188061 NA 18455130 Standard NM_003247 NM_003247 NA Approved TSP2 uc003qwt.3 P35442 OTTHUMG00000045408 ENST00000366787.3:c.*488T>C chr6.hg19:g.169617429A>G NA A6H8N1|A7E232|Q5RI52 hg19 CCDS34574.1 0.02 8.692764 TTAxTGG COVERED NOVEL THBS2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000105439.1 1 30.086681 KEEP 0 0 0 100 3133 AA 1 1 0 - 7 60 269 0 0 16.427612 239 60 8599 409 ENST00000366787.3 0.028455 1 THBS2 7058 __UNKNOWN__ __UNKNOWN__ 6 169617840 169617840 __UNKNOWN__ 3'UTR SNP A A G rs12435 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:169617840A>G ENST00000366787.3 - 0 3845 XXyac-YX65C7_A.2_ENST00000444188.1_RNA|THBS2_ENST00000488355.1_Intron NM_003247.2 NP_003238.2 P35442 TSP2_HUMAN thrombospondin 2 NA NA cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965) basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091) calcium ion binding (GO:0005509)|heparin binding (GO:0008201) NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 111 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) GAGAGAAGCCACAAGGACCAC 0.473 NA g||| 1309 0.261382 0.351 0.2421 5008 , , NA 16609 0.2361 NA 0.2078 False NA ,,, NA NA NA 2504 0.2352 NA NA NA Esophageal Squamous(91;219 1934 18562 44706) NA 0 411,973 67,277,348 75 82 80 3.1 0 6 dbSNP_52 80 663,2519 60,543,988 no utr-3 THBS2 NM_003247.2 127,820,1336 GG,GA,AA 20.836,29.6965,23.5217 169617840 1074,3492 692 1591 2283 SO:0001624 3_prime_UTR_variant CCDS34574.1 6q27 2008-07-28 ENSG00000186340 ENSG00000186340 7058 11786 protein-coding gene gene with protein product 188061 NA 18455130 Standard NM_003247 NM_003247 NA Approved TSP2 uc003qwt.3 P35442 OTTHUMG00000045408 ENST00000366787.3:c.*77T>C chr6.hg19:g.169617840A>G NA A6H8N1|A7E232|Q5RI52 hg19 CCDS34574.1 0.02 20.40023 GCCxCAA COVERED NOVEL THBS2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000105439.1 4 55.666111 KEEP 0 0 0 185 5769 AA 1 1 0 - 14 60 483 0 0 27.881414 475 60 17630 885 ENST00000366787.3 0.02863 1 WDR27 253769 __UNKNOWN__ __UNKNOWN__ 6 169982927 169982927 __UNKNOWN__ Intron SNP T T A rs6941625 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:169982927T>A ENST00000448612.1 - 24 2633 WDR27_ENST00000546525.1_Intron|WDR27_ENST00000333572.6_Intron|WDR27_ENST00000423258.1_Intron NM_182552.4 NP_872358.4 A2RRH5 WDR27_HUMAN WD repeat domain 27 NA NA nucleus (GO:0005634) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1) 12 Breast(66;1.53e-05)|Ovarian(120;0.216) OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168) TCAGCAAGACTGTACCTGGGG 0.463 NA T||| 2867 0.572484 0.6051 0.5965 5008 , , NA 18462 0.8393 NA 0.2734 False NA ,,, NA NA NA 2504 0.544 NA NA NA NA 0 T , 2072,1872 562,948,462 41 42 42 , -9.3 0 6 dbSNP_116 42 2304,6014 325,1654,2180 no intron,intron WDR27 NM_001202550.1,NM_182552.4 , 887,2602,2642 AA,AT,TT 27.699,47.4645,35.6875 , , 169982927 4376,7886 1972 4159 6131 SO:0001627 intron_variant AK131435 CCDS47520.1, CCDS47520.2, CCDS56459.1 6q27 2013-01-09 2003-06-18 ENSG00000184465 ENSG00000184465 253769 WD repeat domain containing 21248 protein-coding gene gene with protein product NA Standard NM_182552 NM_182552 NA Approved MGC43690 uc003qwx.3 A2RRH5 OTTHUMG00000016061 ENST00000448612.1:c.2523+4A>T chr6.hg19:g.169982927T>A NA A5PLM8|C9JGV0|Q5T066 hg19 CCDS47520.2 0.02 4.560897 GACxGTA COVERED NOVEL WDR27-010 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000407334.1 2 8.124148 KEEP 0 0 0 27 832 TT 0.999988 0.999987 0 - 9 60 341 0 0 24.28461 118 60 4365 177 ENST00000448612.1 0.070866 1 WDR27 253769 __UNKNOWN__ __UNKNOWN__ 6 170049421 170049421 __UNKNOWN__ Intron SNP T T G rs4145868 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:170049421T>G ENST00000448612.1 - 15 1591 WDR27_ENST00000333572.6_Intron|WDR27_ENST00000423258.1_Intron|WDR27_ENST00000546525.1_Intron NM_182552.4 NP_872358.4 A2RRH5 WDR27_HUMAN WD repeat domain 27 NA NA nucleus (GO:0005634) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1) 12 Breast(66;1.53e-05)|Ovarian(120;0.216) OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168) GAGGTCTAAGTTTCTTAAGAG 0.373 NA G||| 3491 0.697085 0.8139 0.6556 5008 , , NA 16055 0.9812 NA 0.3519 False NA ,,, NA NA NA 2504 0.6309 NA NA NA NA 0 G , 1389,507 515,359,74 61 56 58 , -4.2 0 6 dbSNP_110 58 1427,2761 249,929,916 no intron,intron WDR27 NM_001202550.1,NM_182552.4 , 764,1288,990 GG,GT,TT 34.0735,26.7405,46.2853 , , 170049421 2816,3268 948 2094 3042 SO:0001627 intron_variant AK131435 CCDS47520.1, CCDS47520.2, CCDS56459.1 6q27 2013-01-09 2003-06-18 ENSG00000184465 ENSG00000184465 253769 WD repeat domain containing 21248 protein-coding gene gene with protein product NA Standard NM_182552 NM_182552 NA Approved MGC43690 uc003qwx.3 A2RRH5 OTTHUMG00000016061 ENST00000448612.1:c.1482-50A>C chr6.hg19:g.170049421T>G NA A5PLM8|C9JGV0|Q5T066 hg19 CCDS47520.2 0.02 4.00039 AAGxTTC COVERED NOVEL WDR27-010 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000407334.1 0 2.542764 KEEP 0 1 36 21 675 TT 0.999879 0.999879 0 - 6 60 224 0 0 14.625737 128 60 4538 170 ENST00000448612.1 0.044776 1 WDR27 253769 __UNKNOWN__ __UNKNOWN__ 6 170058205 170058205 __UNKNOWN__ Intron SNP C C T rs3823463 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:170058205C>T ENST00000448612.1 - 13 1512 WDR27_ENST00000333572.6_Intron|WDR27_ENST00000423258.1_Intron|WDR27_ENST00000546525.1_Intron NM_182552.4 NP_872358.4 A2RRH5 WDR27_HUMAN WD repeat domain 27 NA NA nucleus (GO:0005634) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1) 12 Breast(66;1.53e-05)|Ovarian(120;0.216) OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168) CCCACCACAGCGGACATGGAA 0.517 NA C||| 1001 0.19988 0.0287 0.2723 5008 , , NA 22903 0.5982 NA 0.0547 False NA ,,, NA NA NA 2504 0.1186 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK131435 CCDS47520.1, CCDS47520.2, CCDS56459.1 6q27 2013-01-09 2003-06-18 ENSG00000184465 ENSG00000184465 253769 WD repeat domain containing 21248 protein-coding gene gene with protein product NA Standard NM_182552 NM_182552 NA Approved MGC43690 uc003qwx.3 A2RRH5 OTTHUMG00000016061 ENST00000448612.1:c.1402+166G>A chr6.hg19:g.170058205C>T NA A5PLM8|C9JGV0|Q5T066 hg19 CCDS47520.2 0.02 3.541801 CAGxGGA COVERED NOVEL WDR27-010 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000407334.1 1 3.911889 KEEP 0 0 0 13 424 CC 0.994391 0.994391 0 - 7 60 238 0 0 15.079953 133 60 4905 156 ENST00000448612.1 0.05 1 WDR27 253769 __UNKNOWN__ __UNKNOWN__ 6 170065742 170065742 __UNKNOWN__ Intron SNP G G A rs3800545 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:170065742G>A ENST00000448612.1 - 7 822 WDR27_ENST00000333572.6_Intron|WDR27_ENST00000420344.2_Intron|WDR27_ENST00000423258.1_Intron|WDR27_ENST00000546525.1_Intron NM_182552.4 NP_872358.4 A2RRH5 WDR27_HUMAN WD repeat domain 27 NA NA nucleus (GO:0005634) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1) 12 Breast(66;1.53e-05)|Ovarian(120;0.216) OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168) CTCTTTACACGTAATATTTAC 0.323 NA G||| 991 0.197883 0.0144 0.2723 5008 , , NA 20180 0.5972 NA 0.0696 False NA ,,, NA NA NA 2504 0.1135 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK131435 CCDS47520.1, CCDS47520.2, CCDS56459.1 6q27 2013-01-09 2003-06-18 ENSG00000184465 ENSG00000184465 253769 WD repeat domain containing 21248 protein-coding gene gene with protein product NA Standard NM_182552 NM_182552 NA Approved MGC43690 uc003qwx.3 A2RRH5 OTTHUMG00000016061 ENST00000448612.1:c.713-90C>T chr6.hg19:g.170065742G>A NA A5PLM8|C9JGV0|Q5T066 hg19 CCDS47520.2 0.02 6.989128 CACxTAA COVERED NOVEL WDR27-010 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000407334.1 4 8.427563 KEEP 0 0 0 28 990 GG 0.999997 0.999997 0 - 8 60 301 0 0 19.954477 160 60 5830 221 ENST00000448612.1 0.047619 1 WDR27 253769 __UNKNOWN__ __UNKNOWN__ 6 170068180 170068180 __UNKNOWN__ Silent SNP A A G rs3823465 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:170068180A>G ENST00000448612.1 - 5 667 c.558T>C c.(556-558)gtT>gtC p.V186V WDR27_ENST00000333572.6_Silent_p.V186V|WDR27_ENST00000420344.2_Intron|WDR27_ENST00000423258.1_Intron NM_182552.4 NP_872358.4 A2RRH5 WDR27_HUMAN WD repeat domain 27 156 NA nucleus (GO:0005634) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1) 12 Breast(66;1.53e-05)|Ovarian(120;0.216) OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168) GCTCGGCCCGAACAGCCTGAG 0.577 NA G||| 1594 0.318291 0.1899 0.3343 5008 , , NA 16383 0.7093 NA 0.162 False NA ,,, NA NA NA 2504 0.2382 NA NA NA NA 0 G , 714,3372 71,572,1400 85 102 96 ,558 -10.3 0 6 dbSNP_107 96 1177,7203 81,1015,3094 no intron,coding-synonymous WDR27 NM_001202550.1,NM_182552.4 , 152,1587,4494 GG,GA,AA 14.0453,17.4743,15.1693 , ,186/896 170068180 1891,10575 2043 4190 6233 SO:0001819 synonymous_variant AK131435 CCDS47520.1, CCDS47520.2, CCDS56459.1 6q27 2013-01-09 2003-06-18 ENSG00000184465 ENSG00000184465 253769 WD repeat domain containing 21248 protein-coding gene gene with protein product NA Standard NM_182552 NM_182552 NA Approved MGC43690 uc003qwx.3 A2RRH5 OTTHUMG00000016061 ENST00000448612.1:c.558T>C chr6.hg19:g.170068180A>G NA A5PLM8|C9JGV0|Q5T066 hg19 CCDS47520.2 0.02 7.438055 CCGxACA COVERED NOVEL WDR27-010 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000407334.1 1 19.257709 KEEP 0 0 0 64 1984 AA 1 1 0 - 8 60 307 0 0 20.435126 166 60 5730 299 ENST00000448612.1 0.045977 1 WDR27 253769 __UNKNOWN__ __UNKNOWN__ 6 170070723 170070723 __UNKNOWN__ Missense_Mutation SNP A A G rs4236176 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:170070723A>G ENST00000448612.1 - 4 507 c.398T>C c.(397-399)cTg>cCg p.L133P WDR27_ENST00000333572.6_Missense_Mutation_p.L133P|WDR27_ENST00000420344.2_Missense_Mutation_p.L133P|WDR27_ENST00000423258.1_Intron NM_182552.4 NP_872358.4 A2RRH5 WDR27_HUMAN WD repeat domain 27 133 NA L -> P (in dbSNP:rs4236176). {ECO:0000269|PubMed:15489334}. nucleus (GO:0005634) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1) 12 Breast(66;1.53e-05)|Ovarian(120;0.216) OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168) ATGATCATCCAGGCTCAACTG 0.468 NA a||| 2691 0.53734 0.4803 0.5548 5008 , , NA 16862 0.9365 NA 0.2922 False NA ,,, NA NA NA 2504 0.4427 NA NA NA NA 0 A ,PRO/LEU 1677,2209 358,961,624 123 123 123 ,398 0.7 0 6 dbSNP_111 123 2170,6136 294,1582,2277 yes intron,missense WDR27 NM_001202550.1,NM_182552.4 ,98 652,2543,2901 GG,GA,AA 26.1257,43.1549,31.5535 ,benign ,133/896 170070723 3847,8345 1943 4153 6096 SO:0001583 missense AK131435 CCDS47520.1, CCDS47520.2, CCDS56459.1 6q27 2013-01-09 2003-06-18 ENSG00000184465 ENSG00000184465 253769 WD repeat domain containing 21248 protein-coding gene gene with protein product NA Standard NM_182552 NM_182552 NA Approved MGC43690 uc003qwx.3 A2RRH5 OTTHUMG00000016061 ENST00000448612.1:c.398T>C chr6.hg19:g.170070723A>G ENSP00000416289:p.Leu133Pro NA A5PLM8|C9JGV0|Q5T066 hg19 CCDS47520.2 0.02 10.059993 TCCxGGC COVERED 1132 0.5183150183150184 202 0.4105691056910569 179 0.494475138121547 524 0.916083916083916 227 0.2994722955145119 a 0.086 -1.174843 0.01646 0.431549 0.261257 ENSG00000184465 ENST00000448612;ENST00000333572;ENST00000420344 T;T;T 0.60299 1.73;2.37;0.2 5.52 0.661 0.17874 . 0.643068 0.15332 N 0.267927 T 0.05410 0.0143 N 0.00419 -1.52 0.51012 P 9.40000000000385E-5 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.38607 -0.9653 9 0.02654 T 1 -7.9112 9.8422 0.41006 0.3536:0.0:0.6464:0.0 rs4236176;rs17854047;rs17860914;rs61562734;rs4236176 133;133 F2Z2U5;C9JGV0 .;. P 133 ENSP00000416289:L133P;ENSP00000330265:L133P;ENSP00000406114:L133P ENSP00000330265:L133P L - 2 0 WDR27 169812648 0.509000 0.26163 0.000000 0.03702 0.050000 0.14768 0.527000 0.22987 -0.185000 0.10550 -0.362000 0.07510 CTG NOVEL WDR27-010 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000407334.1 1 21.966165 KEEP 0 0 0 73 2312 AA 1 1 0 - 10 60 346 0 0 20.605418 273 60 10183 454 ENST00000448612.1 0.035336 1 WDR27 253769 __UNKNOWN__ __UNKNOWN__ 6 170089200 170089200 __UNKNOWN__ Intron SNP C C A rs3800548 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:170089200C>A ENST00000448612.1 - 2 103 WDR27_ENST00000333572.6_Intron|WDR27_ENST00000420344.2_Intron|WDR27_ENST00000423258.1_Intron NM_182552.4 NP_872358.4 A2RRH5 WDR27_HUMAN WD repeat domain 27 NA NA nucleus (GO:0005634) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1) 12 Breast(66;1.53e-05)|Ovarian(120;0.216) OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168) CTAGTTTGACCACACACATAT 0.328 NA C||| 981 0.195887 0.0106 0.2709 5008 , , NA 20377 0.5982 NA 0.0646 False NA ,,, NA NA NA 2504 0.1135 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK131435 CCDS47520.1, CCDS47520.2, CCDS56459.1 6q27 2013-01-09 2003-06-18 ENSG00000184465 ENSG00000184465 253769 WD repeat domain containing 21248 protein-coding gene gene with protein product NA Standard NM_182552 NM_182552 NA Approved MGC43690 uc003qwx.3 A2RRH5 OTTHUMG00000016061 ENST00000448612.1:c.7-92G>T chr6.hg19:g.170089200C>A NA A5PLM8|C9JGV0|Q5T066 hg19 CCDS47520.2 0.02 6.226101 GACxACA COVERED NOVEL WDR27-010 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000407334.1 1 6.019239 KEEP 0 0 0 20 689 CC 0.999863 0.999863 0 - 7 60 247 0 0 15.486761 157 60 5897 186 ENST00000448612.1 0.042683 1 C6orf120 387263 __UNKNOWN__ __UNKNOWN__ 6 170102267 170102267 __UNKNOWN__ 5'UTR SNP A A G rs4716383 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:170102267A>G ENST00000332290.2 + 0 11 C6orf120_ENST00000439249.1_Silent_p.K3K NM_001029863.1 NP_001025034.1 Q7Z4R8 CF120_HUMAN chromosome 6 open reading frame 120 NA NA apoptotic process (GO:0006915) extracellular vesicular exosome (GO:0070062) endometrium(1)|lung(2) 3 Breast(66;0.000338) OV - Ovarian serous cystadenocarcinoma(33;9.65e-22)|BRCA - Breast invasive adenocarcinoma(81;1.29e-07)|GBM - Glioblastoma multiforme(31;0.0015) GGATGTATAAAGCGCGGCCCC 0.721 NA G||| 3342 0.667332 0.7716 0.6095 5008 , , NA 12520 0.9534 NA 0.3241 False NA ,,, NA NA NA 2504 0.6258 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF055030 CCDS34575.1 6q27 2012-06-21 ENSG00000185127 ENSG00000185127 387263 21247 protein-coding gene gene with protein product NA 8619474, 9110174, 22340178 Standard NM_001029863 NM_001029863 NA Approved bA160E12.4 uc003qxb.3 Q7Z4R8 OTTHUMG00000016057 ENST00000332290.2:c.-289A>G chr6.hg19:g.170102267A>G NA B4DHE9|E1P5C9 hg19 CCDS34575.1 0.02 9.169147 TAAxGCG COVERED NOVEL C6orf120-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000043214.1 0 38.5147 KEEP 0 0 0 128 4001 AA 1 1 0 + 9 60 324 0 0 20.283183 217 60 7928 456 ENST00000332290.2 0.039823 1 C6orf120 387263 __UNKNOWN__ __UNKNOWN__ 6 170102504 170102504 __UNKNOWN__ 5'UTR SNP T T C rs72571025 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:170102504T>C ENST00000332290.2 + 0 248 C6orf120_ENST00000439249.1_Intron NM_001029863.1 NP_001025034.1 Q7Z4R8 CF120_HUMAN chromosome 6 open reading frame 120 NA NA apoptotic process (GO:0006915) extracellular vesicular exosome (GO:0070062) endometrium(1)|lung(2) 3 Breast(66;0.000338) OV - Ovarian serous cystadenocarcinoma(33;9.65e-22)|BRCA - Breast invasive adenocarcinoma(81;1.29e-07)|GBM - Glioblastoma multiforme(31;0.0015) GCGCCTCCGGTGTCCCCAGCA 0.761 NA T||| 978 0.195288 0.0106 0.2709 5008 , , NA 11542 0.5982 NA 0.0646 False NA ,,, NA NA NA 2504 0.1104 NA NA NA NA 0 2 2 2 NA NA 6 NA 170102504 583 1392 1975 SO:0001623 5_prime_UTR_variant AF055030 CCDS34575.1 6q27 2012-06-21 ENSG00000185127 ENSG00000185127 387263 21247 protein-coding gene gene with protein product NA 8619474, 9110174, 22340178 Standard NM_001029863 NM_001029863 NA Approved bA160E12.4 uc003qxb.3 Q7Z4R8 OTTHUMG00000016057 ENST00000332290.2:c.-52T>C chr6.hg19:g.170102504T>C NA B4DHE9|E1P5C9 hg19 CCDS34575.1 0.02 7.853287 CGGxGTC COVERED NOVEL C6orf120-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000043214.1 0 55.974415 KEEP 0 1 5 188 5644 TT 1 1 0 + 9 60 289 0 0 16.970006 209 60 6780 543 ENST00000332290.2 0.041284 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 170140184 170140184 __UNKNOWN__ IGR SNP T T C rs9383520 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:170140184T>C NA NA RP1-266L20.4 (1096 upstream) : TCTE3 (25 downstream) NA NA NA AGAATAAGAATATAGCAAATC 0.244 NA T||| 1465 0.292532 0.1437 0.366 5008 , , NA 15227 0.6419 NA 0.1769 False NA ,,, NA NA NA 2504 0.2004 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.170140184T>C NA hg19 0.02 10.415647 GAAxATA COVERED NOVEL 0 0 12.03188 KEEP 0 0 0 40 1158 TT 1 1 0 9 60 327 0 0 19.940831 256 60 9327 322 0.033962 1 ERMARD 55780 __UNKNOWN__ __UNKNOWN__ 6 170159023 170159023 __UNKNOWN__ Intron SNP G G A rs6459660 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:170159023G>A ENST00000588451.1 + 6 642 ERMARD_ENST00000418781.3_Intron|ERMARD_ENST00000392095.4_Intron|ERMARD_ENST00000366772.2_Intron|ERMARD_ENST00000366773.3_Intron Q5T6L9 EMARD_HUMAN ER membrane-associated RNA degradation NA NA multicellular organismal development (GO:0007275) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) NA GGTTTATTCAGTAATTCAGTA 0.338 NA A||| 3742 0.747204 0.9175 0.7003 5008 , , NA 19780 0.9821 NA 0.4563 False NA ,,, NA NA NA 2504 0.6074 NA NA NA NA 0 A 3698,708 296.4+/-284.2 1551,596,56 79 83 82 -4.7 0 6 dbSNP_116 82 3565,5035 628.9+/-398.2 742,2081,1477 no intron C6orf70 NM_018341.1 2293,2677,1533 AA,AG,GG 41.4535,16.069,44.1565 170159023 7263,5743 2203 4300 6503 SO:0001627 intron_variant AK002014 CCDS34576.1, CCDS64572.1, CCDS64573.1, CCDS64574.1 6q27 2013-08-28 2013-08-28 2013-08-28 ENSG00000130023 ENSG00000130023 55780 21056 protein-coding gene gene with protein product 615532 chromosome 6 open reading frame 70 C6orf70 NA 23768067 Standard NM_018341 NM_018341 NA Approved FLJ11152, dJ266L20.3 uc003qxg.1 Q5T6L9 OTTHUMG00000016067 ENST00000588451.1:c.130-41G>A chr6.hg19:g.170159023G>A NA B4DFH0|F8WAF1|Q3ZCS8|Q5T6L8|Q9NUT5|Q9NVU2 hg19 0.02 12.621033 TCAxTAA COVERED NOVEL ERMARD-007 PUTATIVE not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000451451.1 0 12.936861 KEEP 0 0 0 43 1523 GG 1 1 0 + 15 60 540 0 0 34.872682 305 60 11615 400 ENST00000588451.1 0.046875 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 6 170181817 170181817 __UNKNOWN__ IGR SNP G G T rs6459666 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:170181817G>T NA NA ERMARD (137 upstream) : LINC00242 (7068 downstream) NA NA NA TCGATGTAAGGCTCAGTCTGC 0.507 NA T||| 3715 0.741813 0.9054 0.7003 5008 , , NA 19673 0.9772 NA 0.4573 False NA ,,, NA NA NA 2504 0.6002 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr6.hg19:g.170181817G>T NA hg19 0.02 1.807168 AAGxCTC COVERED NOVEL 0 0 3.009339 KEEP 0 0 0 10 336 GG 0.992708 0.992513 0 6 60 223 0 0 15.621483 83 60 3073 99 0.067416 0.999804 LINC00242 401288 __UNKNOWN__ __UNKNOWN__ 6 170190200 170190200 __UNKNOWN__ lincRNA SNP G G A rs3807067 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:170190200G>A ENST00000437615.1 - 0 1103 NR_026781.1 Q5T6M2 CF122_HUMAN long intergenic non-protein coding RNA 242 NA NA NA GGCAGCAGAAGTGCAGCTGAC 0.582 NA OREG0017803 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) A||| 3754 0.749601 0.9304 0.7032 5008 , , NA 17852 0.9802 NA 0.4563 False NA ,,, NA NA NA 2504 0.6022 NA NA NA NA 0 A 1187,197 509,169,14 133 118 122 -1.5 0 6 dbSNP_107 122 1324,1858 280,764,547 no intergenic 789,933,561 AA,AG,GG 41.6091,14.2341,45.0066 170190200 2511,2055 692 1591 2283 AK056013 6q28 2012-10-12 2011-08-11 2011-08-11 ENSG00000229214 ENSG00000229214 401288 Long non-coding RNAs 21249 non-coding RNA RNA, long non-coding chromosome 6 open reading frame 122, non-protein coding RNA 242 C6orf122, NCRNA00242 NA Standard NR_026781 NR_026781 NA Approved FLJ31451, dJ266L20.5 uc003qxj.1 Q5T6M2 OTTHUMG00000016064 ENST00000437615.1: chr6.hg19:g.170190200G>A 1883 Q0VD89|Q96N37 hg19 0.02 8.580386 GAAxTGC COVERED NOVEL LINC00242-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000043231.2 2 27.080568 KEEP 0 0 0 90 3197 GG 1 1 0 - 9 60 326 0 0 20.921699 193 60 7235 358 ENST00000437615.1 0.044554 1 LINC00242 401288 __UNKNOWN__ __UNKNOWN__ 6 170190659 170190659 __UNKNOWN__ lincRNA SNP G G T rs3800550 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:170190659G>T ENST00000437615.1 - 0 644 LINC00574_ENST00000420557.2_lincRNA NR_026781.1 Q5T6M2 CF122_HUMAN long intergenic non-protein coding RNA 242 NA NA NA AGAACAGACAGCGCCTGAAAT 0.622 NA OREG0017803 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) T||| 2234 0.446086 0.4062 0.5043 5008 , , NA 15289 0.8423 NA 0.2048 False NA ,,, NA NA NA 2504 0.2986 NA NA NA NA 0 61 58 59 NA NA 6 NA 170190659 692 1591 2283 AK056013 6q28 2012-10-12 2011-08-11 2011-08-11 ENSG00000229214 ENSG00000229214 401288 Long non-coding RNAs 21249 non-coding RNA RNA, long non-coding chromosome 6 open reading frame 122, non-protein coding RNA 242 C6orf122, NCRNA00242 NA Standard NR_026781 NR_026781 NA Approved FLJ31451, dJ266L20.5 uc003qxj.1 Q5T6M2 OTTHUMG00000016064 ENST00000437615.1: chr6.hg19:g.170190659G>T 1883 Q0VD89|Q96N37 hg19 0.02 10.51418 ACAxCGC COVERED NOVEL LINC00242-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000043231.2 0 43.6351 KEEP 0 0 0 145 5190 GG 1 1 0 - 15 60 504 0 0 32.007619 273 60 9989 558 ENST00000437615.1 0.052083 1 DLL1 28514 __UNKNOWN__ __UNKNOWN__ 6 170592945 170592945 __UNKNOWN__ Silent SNP C C T rs3734776|rs201880497 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:170592945C>T ENST00000366756.3 - 9 1755 c.1422G>A c.(1420-1422)acG>acA p.T474T NM_005618.3 NP_005609.3 O00548 DLL1_HUMAN delta-like 1 (Drosophila) 474 EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}. NA cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|cell-cell signaling (GO:0007267)|compartment pattern specification (GO:0007386)|determination of left/right symmetry (GO:0007368)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|inner ear development (GO:0048839)|left/right axis specification (GO:0070986)|loop of Henle development (GO:0072070)|negative regulation of auditory receptor cell differentiation (GO:0045608)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of myeloid cell differentiation (GO:0045638)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal tubule development (GO:0072014)|regulation of cell adhesion (GO:0030155)|somite specification (GO:0001757) cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|Notch binding (GO:0005112) NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 33 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584) AGTTCCTGCCCGTGTAGCCAG 0.687 NA C||| 887 0.177117 0.0741 0.049 5008 , , NA 13351 0.5685 NA 0.0249 False NA ,,, NA NA NA 2504 0.1605 NA NA NA NA 0 C 272,4130 7,258,1936 16 17 17 1422 -5.8 0.8 6 dbSNP_107 17 39,8545 0,39,4253 no coding-synonymous DLL1 NM_005618.3 7,297,6189 TT,TC,CC 0.4543,6.179,2.3949 474/724 170592945 311,12675 2201 4292 6493 SO:0001819 synonymous_variant AF003522 CCDS5313.1 6q13-q22.33 2008-07-28 2001-12-03 ENSG00000198719 ENSG00000198719 28514 2908 protein-coding gene gene with protein product 606582 delta (Drosophila)-like 1 NA Standard NM_005618 NA Approved uc003qxm.3 O00548 OTTHUMG00000016078 ENST00000366756.3:c.1422G>A chr6.hg19:g.170592945C>T NA B2RAK7|B5M0B3|Q9NU41|Q9UJV2 hg19 CCDS5313.1 0.02 6.518683 GCCxGTG COVERED NOVEL DLL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000043254.1 0 30.369094 KEEP 0 0 0 101 3370 CC 1 1 0 - 15 60 564 0 0 40.463644 184 60 6256 401 ENST00000366756.3 0.075377 1 DLL1 28514 __UNKNOWN__ __UNKNOWN__ 6 170597305 170597305 __UNKNOWN__ Intron SNP C C T rs3818115 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:170597305C>T ENST00000366756.3 - 4 1004 NM_005618.3 NP_005609.3 O00548 DLL1_HUMAN delta-like 1 (Drosophila) NA NA cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|cell-cell signaling (GO:0007267)|compartment pattern specification (GO:0007386)|determination of left/right symmetry (GO:0007368)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|inner ear development (GO:0048839)|left/right axis specification (GO:0070986)|loop of Henle development (GO:0072070)|negative regulation of auditory receptor cell differentiation (GO:0045608)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of myeloid cell differentiation (GO:0045638)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal tubule development (GO:0072014)|regulation of cell adhesion (GO:0030155)|somite specification (GO:0001757) cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|Notch binding (GO:0005112) NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 33 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584) AGTGAGCCAGCGGTGCCTTCC 0.642 NA C||| 883 0.176318 0.0507 0.049 5008 , , NA 17124 0.5754 NA 0.0249 False NA ,,, NA NA NA 2504 0.181 NA NA NA NA 0 C 233,4173 137.3+/-173.1 5,223,1975 48 41 44 -0.9 0 6 dbSNP_107 44 39,8561 26.3+/-74.7 0,39,4261 no intron DLL1 NM_005618.3 5,262,6236 TT,TC,CC 0.4535,5.2882,2.0913 170597305 272,12734 2203 4300 6503 SO:0001627 intron_variant AF003522 CCDS5313.1 6q13-q22.33 2008-07-28 2001-12-03 ENSG00000198719 ENSG00000198719 28514 2908 protein-coding gene gene with protein product 606582 delta (Drosophila)-like 1 NA Standard NM_005618 NA Approved uc003qxm.3 O00548 OTTHUMG00000016078 ENST00000366756.3:c.670+21G>A chr6.hg19:g.170597305C>T NA B2RAK7|B5M0B3|Q9NU41|Q9UJV2 hg19 CCDS5313.1 0.02 4.096099 CAGxGGT COVERED NOVEL DLL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000043254.1 0 22.268837 KEEP 0 0 0 74 2570 CC 1 1 0 - 11 60 381 0 0 26.415513 135 60 4900 250 ENST00000366756.3 0.075342 1 FAM120B 84498 __UNKNOWN__ __UNKNOWN__ 6 170639786 170639786 __UNKNOWN__ Intron SNP C C A rs74954734 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr6:170639786C>A ENST00000476287.1 + 4 2125 FAM120B_ENST00000540480.1_Intron|FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000537664.1_Intron NM_032448.1 NP_115824.1 Q96EK7 F120B_HUMAN family with sequence similarity 120B NA NA cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2) 44 Breast(66;0.000338)|Esophageal squamous(34;0.241) OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899) TTAATGTATCCATCTAACAAA 0.418 NA C||| 941 0.187899 0.0908 0.0634 5008 , , NA 21769 0.5754 NA 0.0249 False NA ,,, NA NA NA 2504 0.1759 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB058741 CCDS5314.1, CCDS75555.1 6q27 2011-04-13 2006-07-04 2006-07-04 ENSG00000112584 ENSG00000112584 84498 21109 protein-coding gene gene with protein product PPARgamma constitutive coactivator 1, constitutive coactivator of PPAR-gamma 612266 KIAA1838 KIAA1838 NA 14585507 Standard NM_032448 NM_032448 NA Approved PGCC1, CCPG uc003qxp.3 Q96EK7 OTTHUMG00000016080 ENST00000476287.1:c.2017+148C>A chr6.hg19:g.170639786C>A NA B4DL34|Q86V68|Q96JI9 hg19 CCDS5314.1 0.02 10.845853 ATCxATC COVERED NOVEL FAM120B-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000043259.2 2 12.339499 KEEP 0 0 0 41 1471 CC 1 1 0 + 11 60 372 0 0 22.830668 261 60 9672 381 ENST00000476287.1 0.040441 1 PRKAR1B 5575 __UNKNOWN__ __UNKNOWN__ 7 589066 589066 __UNKNOWN__ 3'UTR SNP A A G rs1126837 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:589066A>G ENST00000406797.1 - 0 2321 PRKAR1B_ENST00000537384.1_3'UTR|PRKAR1B_ENST00000544935.1_3'UTR NM_001164761.1 NP_001158233.1 P31321 KAP1_HUMAN protein kinase, cAMP-dependent, regulatory, type I, beta NA NA activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833) cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|plasma membrane (GO:0005886) cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236) endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1) 17 Ovarian(82;0.0779) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152) GAGCAACATCAGGTGAACTGC 0.647 NA G||| 2659 0.53095 0.6127 0.6657 5008 , , NA 15026 0.5694 NA 0.4831 False NA ,,, NA NA NA 2504 0.3344 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M65066 CCDS34579.1 7p22.3 2013-09-19 ENSG00000188191 ENSG00000188191 5575 2.7.11.1 9390 protein-coding gene gene with protein product 176911 NA 1358799, 3479018 Standard NM_002735 NA Approved uc003siw.2 P31321 OTTHUMG00000151411 ENST00000406797.1:c.*1001T>C chr7.hg19:g.589066A>G NA Q8N422 hg19 CCDS34579.1 0.02 22.919169 ATCxGGT COVERED NOVEL PRKAR1B-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322525.1 5 37.677397 KEEP 0 2 71 150 4680 AA 1 1 0 - 17 60 589 0 0 33.198264 604 60 22600 948 ENST00000406797.1 0.027375 1 SUN1 23353 __UNKNOWN__ __UNKNOWN__ 7 881668 881668 __UNKNOWN__ Missense_Mutation SNP C C T rs6461378 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:881668C>T ENST00000405266.1 + 3 376 c.352C>T c.(352-354)Cac>Tac p.H118Y SUN1_ENST00000401592.1_Missense_Mutation_p.H118Y|SUN1_ENST00000469755.1_3'UTR|SUN1_ENST00000403868.1_Missense_Mutation_p.H118Y|SUN1_ENST00000457378.2_Missense_Mutation_p.H139Y|SUN1_ENST00000452783.2_Missense_Mutation_p.H118Y|SUN1_ENST00000456758.2_Missense_Mutation_p.H176Y|SUN1_ENST00000389574.3_Missense_Mutation_p.H68Y|SUN1_ENST00000425407.2_Missense_Mutation_p.H68Y O94901 SUN1_HUMAN Sad1 and UNC84 domain containing 1 118 LMNA-binding. NA H -> Y (in dbSNP:rs6461378). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9872452}. cytoskeletal anchoring at nuclear membrane (GO:0090286)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292) acrosomal membrane (GO:0002080)|integral component of nuclear inner membrane (GO:0005639)|nuclear envelope (GO:0005635)|SUN-KASH complex (GO:0034993) NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 TGGCGTCAGCCACGGCGGCAC 0.517 NA C||| 2669 0.532947 0.6233 0.4438 5008 , , NA 19433 0.6399 NA 0.4324 False NA ,,, NA NA NA 2504 0.4673 NA NA NA NA 0 C TYR/HIS,TYR/HIS,TYR/HIS,TYR/HIS,TYR/HIS 2346,1818 679,988,415 81 84 83 352,352,415,352,202 5.6 1 7 dbSNP_116 83 3641,4787 780,2081,1353 yes missense,missense,missense,missense,missense SUN1 NM_001130965.2,NM_001171944.1,NM_001171945.1,NM_001171946.1,NM_025154.5 83,83,83,83,83 1459,3069,1768 TT,TC,CC 43.2012,43.6599,47.5461 benign,benign,benign,benign,benign 118/786,118/683,139/279,118/258,68/703 881668 5987,6605 2082 4214 6296 SO:0001583 missense AF202724 CCDS43533.1, CCDS47525.1, CCDS55078.1, CCDS55079.1, CCDS55080.1 7p22.3 2010-01-27 2010-01-27 2010-01-27 ENSG00000164828 ENSG00000164828 23353 18587 protein-coding gene gene with protein product Sad1 unc-84 domain protein 1 607723 unc-84 homolog A (C. elegans) UNC84A NA 11593002 Standard NM_025154 NM_001130965 NA Approved KIAA0810, FLJ12407 uc021zym.1 O94901 OTTHUMG00000151426 ENST00000405266.1:c.352C>T chr7.hg19:g.881668C>T ENSP00000384116:p.His118Tyr NA A5PL20|B3KMV7|B4DZF7|B7WNY4|B7WP53|E9PDU4|E9PF23|F8WD13|Q96CZ7|Q9HA14|Q9UH98 hg19 0.02 20.422401 AGCxACG COVERED 1153 0.5279304029304029 315 0.6402439024390244 151 0.4171270718232044 363 0.6346153846153846 324 0.42744063324538256 C 10.65 1.410311 0.25465 0.563401 0.432012 ENSG00000164828 ENST00000456758;ENST00000389574;ENST00000457378;ENST00000452783;ENST00000435699;ENST00000439679;ENST00000457598;ENST00000405266;ENST00000401592;ENST00000403868;ENST00000297445;ENST00000425407;ENST00000450881 T;T;T;T;T;T;T;T;T;T;T;T 0.51574 0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7 5.56 5.56 0.83823 . 0.647730 0.15176 N 0.276357 T 0.00012 0.0000 L 0.36672 1.1 0.09310 P 1.0 P;P;P;P;P 0.51449 0.917;0.945;0.608;0.666;0.898 B;P;B;B;B 0.47827 0.212;0.558;0.175;0.311;0.354 T 0.42137 -0.9469 9 0.23302 T 0.38 -11.7323 19.1101 0.93313 0.0:1.0:0.0:0.0 rs6461378;rs10334882;rs11555973;rs52823062;rs57703989;rs6461378 118;118;139;68;118 E9PDU4;E9PF23;F8WD13;O94901-5;O94901-3 .;.;.;.;. Y 176;68;139;118;118;118;118;118;118;118;118;68;93 ENSP00000388743:H176Y;ENSP00000374225:H68Y;ENSP00000395952:H139Y;ENSP00000413439:H118Y;ENSP00000388430:H118Y;ENSP00000413188:H118Y;ENSP00000404965:H118Y;ENSP00000384116:H118Y;ENSP00000384015:H118Y;ENSP00000383947:H118Y;ENSP00000392309:H68Y;ENSP00000392595:H93Y ENSP00000297445:H118Y H + 1 0 SUN1 848194 1.000000 0.71417 0.960000 0.40013 0.026000 0.11368 5.379000 0.66196 2.610000 0.88304 0.655000 0.94253 CAC NOVEL SUN1-001 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000322566.1 2 64.384642 KEEP 0 0 0 214 7422 CC 1 1 0 + 26 60 944 0 0 63.093474 447 60 16804 876 ENST00000405266.1 0.054968 1 SUN1 23353 __UNKNOWN__ __UNKNOWN__ 7 899710 899710 __UNKNOWN__ Intron SNP A A C rs12700166 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:899710A>C ENST00000405266.1 + 15 1659 SUN1_ENST00000401592.1_Intron|SUN1_ENST00000452783.2_Intron|SUN1_ENST00000456758.2_Intron|SUN1_ENST00000389574.3_Intron|SUN1_ENST00000425407.2_Intron|SUN1_ENST00000413514.2_Intron O94901 SUN1_HUMAN Sad1 and UNC84 domain containing 1 NA NA cytoskeletal anchoring at nuclear membrane (GO:0090286)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292) acrosomal membrane (GO:0002080)|integral component of nuclear inner membrane (GO:0005639)|nuclear envelope (GO:0005635)|SUN-KASH complex (GO:0034993) NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 GGACCCGAACAGTGGAAGTGA 0.358 NA A||| 2536 0.50639 0.4667 0.4323 5008 , , NA 21757 0.6468 NA 0.4831 False NA ,,, NA NA NA 2504 0.4918 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF202724 CCDS43533.1, CCDS47525.1, CCDS55078.1, CCDS55079.1, CCDS55080.1 7p22.3 2010-01-27 2010-01-27 2010-01-27 ENSG00000164828 ENSG00000164828 23353 18587 protein-coding gene gene with protein product Sad1 unc-84 domain protein 1 607723 unc-84 homolog A (C. elegans) UNC84A NA 11593002 Standard NM_025154 NM_001130965 NA Approved KIAA0810, FLJ12407 uc021zym.1 O94901 OTTHUMG00000151426 ENST00000405266.1:c.1636-55A>C chr7.hg19:g.899710A>C NA A5PL20|B3KMV7|B4DZF7|B7WNY4|B7WP53|E9PDU4|E9PF23|F8WD13|Q96CZ7|Q9HA14|Q9UH98 hg19 0.02 6.731304 AACxGTG COVERED NOVEL SUN1-001 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000322566.1 0 12.608844 KEEP 0 0 0 42 1273 AA 1 1 0 + 6 60 227 0 0 14.056138 180 60 6578 254 ENST00000405266.1 0.032258 1 ADAP1 11033 __UNKNOWN__ __UNKNOWN__ 7 944874 944874 __UNKNOWN__ Intron SNP G G A rs10243781 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:944874G>A ENST00000265846.5 - 5 608 ADAP1_ENST00000463358.1_Intron|ADAP1_ENST00000539900.1_Intron|ADAP1_ENST00000449296.2_Intron NM_001284308.1|NM_001284309.1|NM_001284311.1|NM_006869.2 NP_001271237.1|NP_001271238.1|NP_001271240.1|NP_006860 O75689 ADAP1_HUMAN ArfGAP with dual PH domains 1 NA NA cell surface receptor signaling pathway (GO:0007166)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF GTPase activity (GO:0032312)|regulation of GTPase activity (GO:0043087) cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ARF GTPase activator activity (GO:0008060)|inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270) endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1) 6 AAGGAGTGACGATGGACAGGA 0.637 NA A||| 1661 0.331669 0.6233 0.1801 5008 , , NA 11397 0.4067 NA 0.1551 False NA ,,, NA NA NA 2504 0.1493 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ006422 CCDS5318.1, CCDS64576.1, CCDS64577.1, CCDS75558.1 7p22.3 2013-01-10 2008-09-22 2008-09-22 ENSG00000105963 ENSG00000105963 11033 ADP-ribosylation factor GTPase activating proteins, Pleckstrin homology (PH) domain containing 16486 protein-coding gene gene with protein product 608114 centaurin, alpha 1 CENTA1 NA 10333475 Standard NM_006869 NM_006869 NA Approved GCS1L uc003sjo.4 O75689 OTTHUMG00000023380 ENST00000265846.5:c.389-65C>T chr7.hg19:g.944874G>A NA A4D2Q2|B3KRZ4|B4DVA6|F6XZ68|H7C2Q4 hg19 CCDS5318.1 0.02 1.68696 GACxATG COVERED NOVEL ADAP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000059701.2 1 7.523272 KEEP 0 0 0 25 824 GG 0.999931 0.999149 0 - 4 60 142 0 0 9.2147 76 60 2637 127 ENST00000265846.5 0.05 0.999218 INTS1 26173 __UNKNOWN__ __UNKNOWN__ 7 1511082 1511082 __UNKNOWN__ Intron SNP C C T rs570857544 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:1511082C>T ENST00000404767.3 - 45 6341 INTS1_ENST00000389470.4_Intron NM_001080453.2 NP_001073922.2 Q8N201 INT1_HUMAN integrator complex subunit 1 NA NA inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474) integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020) autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 62 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) GGCCCCCACCCGAAGCCCAGC 0.721 NA C||| 8 0.00159744 0.0 0.0 5008 , , NA 13081 0.0079 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB037861 CCDS47526.1 7p22.3 2009-11-06 ENSG00000164880 ENSG00000164880 26173 24555 protein-coding gene gene with protein product 611345 NA 16239144 Standard NM_001080453 NA Approved DKFZp586J0619, KIAA1440, INT1, NET28 uc003skn.2 Q8N201 OTTHUMG00000151449 ENST00000404767.3:c.6255+124G>A chr7.hg19:g.1511082C>T NA A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8 hg19 CCDS47526.1 0.02 4.28116 ACCxGAA COVERED NOVEL INTS1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000323683.1 2 3.912047 KEEP 0 0 0 13 425 CC 0.994391 0.994364 0 - 7 60 251 0 0 17.366418 95 60 3322 120 ENST00000404767.3 0.068627 0.999973 INTS1 26173 __UNKNOWN__ __UNKNOWN__ 7 1545307 1545307 __UNKNOWN__ Intron SNP C C T rs148958660 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:1545307C>T ENST00000389470.4 - 1 58 Q8N201 INT1_HUMAN integrator complex subunit 1 NA NA inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474) integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020) autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 62 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) TCGAAGGTCTCCCCTGACCCC 0.567 NA C||| 8 0.00159744 0.0 0.0 5008 , , NA 18487 0.0079 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB037861 CCDS47526.1 7p22.3 2009-11-06 ENSG00000164880 ENSG00000164880 26173 24555 protein-coding gene gene with protein product 611345 NA 16239144 Standard NM_001080453 NA Approved DKFZp586J0619, KIAA1440, INT1, NET28 uc003skn.2 Q8N201 OTTHUMG00000151449 ENST00000389470.4:c.58+124G>A chr7.hg19:g.1545307C>T NA A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8 hg19 0.02 5.78986 TCTxCCC COVERED NOVEL INTS1-201 KNOWN basic protein_coding NA protein_coding 2 10.232015 KEEP 0 0 0 34 1128 CC 0.999998 0.999998 0 - 6 60 212 0 0 12.50505 184 60 6770 247 ENST00000389470.4 0.031579 1 CHST12 55501 __UNKNOWN__ __UNKNOWN__ 7 2472429 2472429 __UNKNOWN__ Missense_Mutation SNP C C A rs3735099 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:2472429C>A ENST00000258711.6 + 2 290 c.155C>A c.(154-156)cCc>cAc p.P52H NM_001243794.1|NM_001243795.1|NM_018641.4 NP_001230723.1|NP_001230724.1|NP_061111.1 Q9NRB3 CHSTC_HUMAN carbohydrate (chondroitin 4) sulfotransferase 12 52 NA P -> H (in dbSNP:rs3735099). carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281) Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020) 3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|chondroitin 4-sulfotransferase activity (GO:0047756) NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 21 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13) CTGCCCACGCCCGGGCCGGAC 0.642 NA C||| 378 0.0754792 0.0144 0.0562 5008 , , NA 15137 0.1538 NA 0.0398 False NA ,,, NA NA NA 2504 0.1278 NA NA NA NA 0 C HIS/PRO 76,4326 65.8+/-103.3 1,74,2126 44 52 49 155 4 0 7 dbSNP_107 49 388,8210 122.4+/-181.4 12,364,3923 yes missense CHST12 NM_018641.4 77 13,438,6049 AA,AC,CC 4.5127,1.7265,3.5692 benign 52/415 2472429 464,12536 2201 4299 6500 SO:0001583 missense AF239822 CCDS5333.1 7p22 2007-03-14 ENSG00000136213 ENSG00000136213 55501 2.8.2.5 Sulfotransferases, membrane-bound 17423 protein-coding gene gene with protein product 610129 NA 10781601 Standard NM_018641 NM_018641 NA Approved C4S-2, C4ST2 uc021zyu.1 Q9NRB3 OTTHUMG00000023849 ENST00000258711.6:c.155C>A chr7.hg19:g.2472429C>A ENSP00000258711:p.Pro52His NA A4D1Z9|Q502W3|Q9NXY7 hg19 CCDS5333.1 0.02 12.046692 CGCxCGG COVERED 128 0.05860805860805861 4 0.008130081300813009 21 0.058011049723756904 76 0.13286713286713286 27 0.03562005277044855 C 6.667 0.491694 0.12702 0.017265 0.045127 ENSG00000136213 ENST00000258711;ENST00000432336 T;T 0.61274 0.12;0.95 4.94 4.03 0.46877 . 0.345170 0.30752 N 0.008949 T 0.00468 0.0015 L 0.29908 0.895 0.80722 P 0.0 P 0.46020 0.871 B 0.41466 0.358 T 0.12016 -1.0564 9 0.49607 T 0.09 -18.3823 4.5533 0.12124 0.2222:0.6374:0.0:0.1405 rs3735099 52 Q9NRB3 CHSTC_HUMAN H 52 ENSP00000258711:P52H;ENSP00000411207:P52H ENSP00000258711:P52H P + 2 0 CHST12 2438955 0.004000 0.15560 0.047000 0.18901 0.116000 0.19942 1.979000 0.40608 1.017000 0.39495 0.555000 0.69702 CCC NOVEL CHST12-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000060170.3 3 37.0189 KEEP 0 0 0 123 4350 CC 1 1 0 + 9 60 322 0 0 18.873611 297 60 10922 521 ENST00000258711.6 0.029412 1 CHST12 55501 __UNKNOWN__ __UNKNOWN__ 7 2472455 2472455 __UNKNOWN__ Missense_Mutation SNP A A T rs3735100 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:2472455A>T ENST00000258711.6 + 2 316 c.181A>T c.(181-183)Acg>Tcg p.T61S NM_001243794.1|NM_001243795.1|NM_018641.4 NP_001230723.1|NP_001230724.1|NP_061111.1 Q9NRB3 CHSTC_HUMAN carbohydrate (chondroitin 4) sulfotransferase 12 61 NA T -> S (in dbSNP:rs3735100). carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281) Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020) 3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|chondroitin 4-sulfotransferase activity (GO:0047756) NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 21 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13) CAGGGAGCTCACGGCCGACTC 0.672 NA A||| 380 0.0758786 0.0159 0.0562 5008 , , NA 15044 0.1538 NA 0.0398 False NA ,,, NA NA NA 2504 0.1278 NA NA NA NA 0 A SER/THR 76,4330 65.3+/-102.7 1,74,2128 43 51 48 181 -9.4 0 7 dbSNP_107 48 389,8211 124.4+/-183.2 12,365,3923 no missense CHST12 NM_018641.4 58 13,439,6051 TT,TA,AA 4.5233,1.7249,3.5753 benign 61/415 2472455 465,12541 2203 4300 6503 SO:0001583 missense AF239822 CCDS5333.1 7p22 2007-03-14 ENSG00000136213 ENSG00000136213 55501 2.8.2.5 Sulfotransferases, membrane-bound 17423 protein-coding gene gene with protein product 610129 NA 10781601 Standard NM_018641 NM_018641 NA Approved C4S-2, C4ST2 uc021zyu.1 Q9NRB3 OTTHUMG00000023849 ENST00000258711.6:c.181A>T chr7.hg19:g.2472455A>T ENSP00000258711:p.Thr61Ser NA A4D1Z9|Q502W3|Q9NXY7 hg19 CCDS5333.1 0.02 13.437371 CTCxCGG COVERED 130 0.05952380952380952 6 0.012195121951219513 21 0.058011049723756904 76 0.13286713286713286 27 0.03562005277044855 A 0.007 -1.960094 0.00465 0.017249 0.045233 ENSG00000136213 ENST00000258711;ENST00000432336 T;T 0.60548 0.18;1.03 4.71 -9.42 0.00610 . 2.237280 0.02005 N 0.046589 T 0.00271 0.0008 N 0.08118 0 0.80722 P 0.0 B 0.14438 0.01 B 0.06405 0.002 T 0.04065 -1.0980 9 0.07813 T 0.8 -22.5122 4.0833 0.09935 0.1289:0.403:0.307:0.1611 rs3735100;rs11537795;rs3735100 61 Q9NRB3 CHSTC_HUMAN S 61 ENSP00000258711:T61S;ENSP00000411207:T61S ENSP00000258711:T61S T + 1 0 CHST12 2438981 0.000000 0.05858 0.000000 0.03702 0.008000 0.06430 -4.483000 0.00227 -2.176000 0.00770 -0.425000 0.05940 ACG NOVEL CHST12-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000060170.3 0 37.575787 KEEP 0 0 0 125 3700 AA 1 1 0 + 9 60 334 0 0 19.920697 309 60 10843 555 ENST00000258711.6 0.028302 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 2568858 2568858 __UNKNOWN__ IGR SNP T T C rs369522102 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:2568858T>C NA NA LFNG (47 upstream) : BRAT1 (8652 downstream) NA NA NA CTGCAGCCTCTGCGGGGATTC 0.612 NA T||| 3 0.000599042 0.0 0.0 5008 , , NA 16346 0.002 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.2568858T>C NA hg19 0.02 1.896303 CTCxGCG COVERED NOVEL 0 1 7.222354 KEEP 0 0 0 24 765 TT 0.999909 0.999019 0 4 60 136 0 0 8.641907 75 60 2705 130 0.050633 0.99911 IQCE 23288 __UNKNOWN__ __UNKNOWN__ 7 2612294 2612294 __UNKNOWN__ Intron SNP T T A rs2969042|rs368242243 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:2612294T>A ENST00000402050.2 + 5 578 IQCE_ENST00000438376.2_Intron|IQCE_ENST00000325979.7_Intron|IQCE_ENST00000404984.1_Intron NM_001100390.1|NM_152558.3 NP_001093860.1|NP_689771.3 Q6IPM2 IQCE_HUMAN IQ motif containing E NA NA mitochondrion (GO:0005739) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;1.23e-13) TGATAAAAAGTCCAAGTCGCA 0.368 NA T||| 1296 0.258786 0.2186 0.2767 5008 , , NA 19534 0.3373 NA 0.174 False NA ,,, NA NA NA 2504 0.3067 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL136792 CCDS43542.1, CCDS47527.1, CCDS47527.2, CCDS75559.1, CCDS75560.1 7p22.3 2006-04-12 ENSG00000106012 ENSG00000106012 23288 29171 protein-coding gene gene with protein product NA 10470851 Standard NM_152558 XR_242067 NA Approved KIAA1023 uc003smo.4 Q6IPM2 OTTHUMG00000152047 ENST00000402050.2:c.394+334T>A chr7.hg19:g.2612294T>A NA Q4G0P7|Q6P7T4|Q9H0H7|Q9UPX7 hg19 CCDS43542.1 0.02 4.070654 AAGxCCA COVERED NOVEL IQCE-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000325063.2 7 17.747386 KEEP 0 0 0 59 1751 TT 1 1 0 + 7 60 254 1 0 17.002895 119 60 4182 243 ENST00000402050.2 0.055556 1 IQCE 23288 __UNKNOWN__ __UNKNOWN__ 7 2612295 2612295 __UNKNOWN__ Intron SNP C C A rs2969043|rs368242243 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:2612295C>A ENST00000402050.2 + 5 578 IQCE_ENST00000438376.2_Intron|IQCE_ENST00000325979.7_Intron|IQCE_ENST00000404984.1_Intron NM_001100390.1|NM_152558.3 NP_001093860.1|NP_689771.3 Q6IPM2 IQCE_HUMAN IQ motif containing E NA NA mitochondrion (GO:0005739) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;1.23e-13) GATAAAAAGTCCAAGTCGCAC 0.368 NA C||| 1295 0.258586 0.2186 0.2767 5008 , , NA 19582 0.3373 NA 0.174 False NA ,,, NA NA NA 2504 0.3057 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL136792 CCDS43542.1, CCDS47527.1, CCDS47527.2, CCDS75559.1, CCDS75560.1 7p22.3 2006-04-12 ENSG00000106012 ENSG00000106012 23288 29171 protein-coding gene gene with protein product NA 10470851 Standard NM_152558 XR_242067 NA Approved KIAA1023 uc003smo.4 Q6IPM2 OTTHUMG00000152047 ENST00000402050.2:c.394+335C>A chr7.hg19:g.2612295C>A NA Q4G0P7|Q6P7T4|Q9H0H7|Q9UPX7 hg19 CCDS43542.1 0.02 3.944683 AGTxCAA COVERED NOVEL IQCE-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000325063.2 7 17.455032 KEEP 0 0 0 58 1977 CC 1 1 0 + 7 60 254 0 0 16.929692 122 60 4583 248 ENST00000402050.2 0.054264 1 IQCE 23288 __UNKNOWN__ __UNKNOWN__ 7 2622273 2622273 __UNKNOWN__ Silent SNP C C T rs367853752 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:2622273C>T ENST00000402050.2 + 9 874 c.690C>T c.(688-690)gaC>gaT p.D230D IQCE_ENST00000497572.1_3'UTR|IQCE_ENST00000438376.2_Silent_p.D214D|IQCE_ENST00000325979.7_Silent_p.D165D|IQCE_ENST00000404984.1_Silent_p.D179D NM_001100390.1|NM_152558.3 NP_001093860.1|NP_689771.3 Q6IPM2 IQCE_HUMAN IQ motif containing E 230 NA mitochondrion (GO:0005739) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;1.23e-13) AGGAGAAGGACGGCACCATCA 0.657 NA C||| 4 0.000798722 0.0 0.0 5008 , , NA 16243 0.002 NA 0.0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 C , 1,4235 0,1,2117 46 55 52 642,690 2.5 0.6 7 52 0,8420 0,0,4210 no coding-synonymous,coding-synonymous IQCE NM_001100390.1,NM_152558.3 , 0,1,6327 TT,TC,CC 0.0,0.0236,0.0079 , 214/680,230/696 2622273 1,12655 2118 4210 6328 SO:0001819 synonymous_variant AL136792 CCDS43542.1, CCDS47527.1, CCDS47527.2, CCDS75559.1, CCDS75560.1 7p22.3 2006-04-12 ENSG00000106012 ENSG00000106012 23288 29171 protein-coding gene gene with protein product NA 10470851 Standard NM_152558 XR_242067 NA Approved KIAA1023 uc003smo.4 Q6IPM2 OTTHUMG00000152047 ENST00000402050.2:c.690C>T chr7.hg19:g.2622273C>T NA Q4G0P7|Q6P7T4|Q9H0H7|Q9UPX7 hg19 CCDS43542.1 0.02 10.938387 GGAxGGC COVERED NOVEL IQCE-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000325063.2 1 15.046552 KEEP 0 0 0 50 1705 CC 1 1 0 + 10 60 323 0 0 18.936334 241 60 8253 389 ENST00000402050.2 0.039841 1 AMZ1 155185 __UNKNOWN__ __UNKNOWN__ 7 2753725 2753725 __UNKNOWN__ 3'UTR SNP C C T rs11976039 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:2753725C>T ENST00000312371.4 + 0 3078 AMZ1_ENST00000489665.1_Intron NM_133463.1 NP_597720.1 Q400G9 AMZ1_HUMAN archaelysin family metallopeptidase 1 NA NA metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270) breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1) 16 Ovarian(82;0.0779) OV - Ovarian serous cystadenocarcinoma(56;5.03e-14) cttttattgtcacacgtaccc 0.527 NA C||| 1511 0.301717 0.4811 0.2608 5008 , , NA 20426 0.0952 NA 0.3419 False NA ,,, NA NA NA 2504 0.2597 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB075830 CCDS34589.1, CCDS64582.1 7p22.3 2008-01-17 ENSG00000174945 ENSG00000174945 155185 22231 protein-coding gene gene with protein product archaemetzincin-1 615168 NA 15972818 Standard NM_133463 NM_133463 NA Approved KIAA1950 uc003smr.1 Q400G9 OTTHUMG00000152111 ENST00000312371.4:c.*1213C>T chr7.hg19:g.2753725C>T NA B3KRS0|Q8TF51 hg19 CCDS34589.1 0.02 11.396289 TGTxACA COVERED NOVEL AMZ1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000325244.1 2 35.213545 KEEP 0 0 0 117 4053 CC 1 1 0 + 11 60 388 0 0 22.887947 335 60 12552 575 ENST00000312371.4 0.031792 1 AMZ1 155185 __UNKNOWN__ __UNKNOWN__ 7 2754085 2754085 __UNKNOWN__ 3'UTR SNP G G A rs9648271 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:2754085G>A ENST00000312371.4 + 0 3438 AMZ1_ENST00000489665.1_Intron NM_133463.1 NP_597720.1 Q400G9 AMZ1_HUMAN archaelysin family metallopeptidase 1 NA NA metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270) breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1) 16 Ovarian(82;0.0779) OV - Ovarian serous cystadenocarcinoma(56;5.03e-14) TAGGATCTTCGTCCCGTTCTC 0.532 NA G||| 1520 0.303514 0.4834 0.2622 5008 , , NA 19429 0.0962 NA 0.3439 False NA ,,, NA NA NA 2504 0.2618 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB075830 CCDS34589.1, CCDS64582.1 7p22.3 2008-01-17 ENSG00000174945 ENSG00000174945 155185 22231 protein-coding gene gene with protein product archaemetzincin-1 615168 NA 15972818 Standard NM_133463 NM_133463 NA Approved KIAA1950 uc003smr.1 Q400G9 OTTHUMG00000152111 ENST00000312371.4:c.*1573G>A chr7.hg19:g.2754085G>A NA B3KRS0|Q8TF51 hg19 CCDS34589.1 0.02 6.123565 TTCxTCC COVERED NOVEL AMZ1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000325244.1 1 18.659979 KEEP 0 0 0 62 2155 GG 1 1 0 + 7 60 260 0 0 16.375314 180 60 6280 305 ENST00000312371.4 0.037433 1 GNA12 2768 __UNKNOWN__ __UNKNOWN__ 7 2769921 2769921 __UNKNOWN__ 3'UTR SNP G G A rs709282 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:2769921G>A ENST00000407904.3 - 0 2191 AMZ1_ENST00000489665.1_Intron|GNA12_ENST00000275364.3_3'UTR|GNA12_ENST00000396960.3_3'UTR|GNA12_ENST00000491117.1_5'UTR|GNA12_ENST00000407653.1_3'UTR NM_001282441.1 NP_001269370.1 Q03113 GNA12_HUMAN guanine nucleotide binding protein (G protein) alpha 12 NA NA adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|embryonic digit morphogenesis (GO:0042733)|G-protein coupled receptor signaling pathway (GO:0007186)|in utero embryonic development (GO:0001701)|platelet activation (GO:0030168)|regulation of cell shape (GO:0008360)|regulation of fibroblast migration (GO:0010762)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of TOR signaling (GO:0032006)|response to drug (GO:0042493)|Rho protein signal transduction (GO:0007266) brush border membrane (GO:0031526)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886) D5 dopamine receptor binding (GO:0031752)|G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871) endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 13 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;1.02e-13) TGGGAGAGCCGTCTGCAAGGG 0.562 NA A||| 1714 0.342252 0.3684 0.4769 5008 , , NA 19391 0.2252 NA 0.4115 False NA ,,, NA NA NA 2504 0.2607 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L01694 CCDS5335.1, CCDS64584.1, CCDS64583.1 7p22.3 2006-07-08 ENSG00000146535 ENSG00000146535 2768 4380 protein-coding gene gene with protein product 604394 NA 8423800, 16247467 Standard NM_007353 NM_007353 NA Approved gep uc003smu.3 Q03113 OTTHUMG00000023064 ENST00000407904.3:c.*894C>T chr7.hg19:g.2769921G>A NA A4D204|B3KXS2|B7Z3F7|Q2T9L1|Q5PPR5|Q86UM8|Q8TD71|Q9UDU9 hg19 0.02 11.139001 GCCxTCT COVERED NOVEL GNA12-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000325235.1 1 30.997005 KEEP 0 0 0 103 3496 GG 1 1 0 - 9 60 338 0 0 21.256976 242 60 8402 431 ENST00000407904.3 0.035857 1 GNA12 2768 __UNKNOWN__ __UNKNOWN__ 7 2770067 2770067 __UNKNOWN__ 3'UTR SNP G G C rs798531 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:2770067G>C ENST00000407904.3 - 0 2045 AMZ1_ENST00000489665.1_Intron|GNA12_ENST00000275364.3_3'UTR|GNA12_ENST00000396960.3_3'UTR|GNA12_ENST00000491117.1_5'UTR|GNA12_ENST00000407653.1_3'UTR NM_001282441.1 NP_001269370.1 Q03113 GNA12_HUMAN guanine nucleotide binding protein (G protein) alpha 12 NA NA adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|embryonic digit morphogenesis (GO:0042733)|G-protein coupled receptor signaling pathway (GO:0007186)|in utero embryonic development (GO:0001701)|platelet activation (GO:0030168)|regulation of cell shape (GO:0008360)|regulation of fibroblast migration (GO:0010762)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of TOR signaling (GO:0032006)|response to drug (GO:0042493)|Rho protein signal transduction (GO:0007266) brush border membrane (GO:0031526)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886) D5 dopamine receptor binding (GO:0031752)|G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871) endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 13 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;1.02e-13) TGCTGGGCATGGGGCAGGGTG 0.637 NA C||| 1714 0.342252 0.3676 0.4755 5008 , , NA 17878 0.2272 NA 0.4115 False NA ,,, NA NA NA 2504 0.2607 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L01694 CCDS5335.1, CCDS64584.1, CCDS64583.1 7p22.3 2006-07-08 ENSG00000146535 ENSG00000146535 2768 4380 protein-coding gene gene with protein product 604394 NA 8423800, 16247467 Standard NM_007353 NM_007353 NA Approved gep uc003smu.3 Q03113 OTTHUMG00000023064 ENST00000407904.3:c.*748C>G chr7.hg19:g.2770067G>C NA A4D204|B3KXS2|B7Z3F7|Q2T9L1|Q5PPR5|Q86UM8|Q8TD71|Q9UDU9 hg19 0.02 6.143933 CATxGGG COVERED NOVEL GNA12-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000325235.1 1 16.827882 KEEP 0 2 75 82 2901 GG 1 1 0 - 9 60 308 0 0 20.009928 153 60 5632 295 ENST00000407904.3 0.055556 1 SDK1 221935 __UNKNOWN__ __UNKNOWN__ 7 4171814 4171814 __UNKNOWN__ Intron SNP A A G rs35849025 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:4171814A>G ENST00000389531.3 + 28 4129 SDK1_ENST00000404826.2_Intron Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 NA NA cell adhesion (GO:0007155) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) TCATCAGTCCAAAACTTTAGG 0.502 NA A||| 1275 0.254593 0.146 0.2118 5008 , , NA 19434 0.7351 NA 0.0835 False NA ,,, NA NA NA 2504 0.1125 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK074077 CCDS34590.1 7p22.3 2013-02-11 2011-12-09 ENSG00000146555 ENSG00000146555 221935 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing 19307 protein-coding gene gene with protein product 607216 sidekick homolog 1 (chicken), sidekick homolog 1, cell adhesion molecule (chicken) NA 12230981, 17307840, 15213259 Standard NM_152744 NM_001079653 NA Approved FLJ31425 uc003smx.3 Q7Z5N4 OTTHUMG00000151733 ENST00000389531.3:c.4130-143A>G chr7.hg19:g.4171814A>G NA Q8TEN9|Q8TEP5|Q96N44 hg19 0.02 9.410729 TCCxAAA COVERED NOVEL SDK1-004 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000323705.2 2 6.051859 KEEP 0 1 31 31 971 AA 0.999997 0.999997 0 + 13 60 422 0 0 25.924997 253 60 9165 304 ENST00000389531.3 0.048872 1 RADIL 55698 __UNKNOWN__ __UNKNOWN__ 7 4874334 4874334 __UNKNOWN__ Silent SNP C C G rs75074289 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:4874334C>G ENST00000399583.3 - 4 1507 c.1320G>C c.(1318-1320)ctG>ctC p.L440L RADIL_ENST00000538469.1_Silent_p.L200L|RADIL_ENST00000536091.1_Silent_p.L440L NM_018059.4 NP_060529.4 Q96JH8 RADIL_HUMAN Ras association and DIL domains 440 NA multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446) microtubule (GO:0005874) NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15) TGCAGAGGCACAGGAGGAAGG 0.637 NA C||| 390 0.0778754 0.0946 0.036 5008 , , NA 11085 0.1349 NA 0.0567 False NA ,,, NA NA NA 2504 0.0481 NA NA NA NA 0 C 354,3892 9,336,1778 20 26 24 1320 -1.1 0.9 7 dbSNP_131 24 630,7838 30,570,3634 no coding-synonymous RADIL NM_018059.4 39,906,5412 GG,GC,CC 7.4398,8.3373,7.7395 440/1076 4874334 984,11730 2123 4234 6357 SO:0001819 synonymous_variant AB058752 CCDS43544.1 7p22.1 2010-08-27 ENSG00000157927 ENSG00000157927 55698 22226 protein-coding gene gene with protein product 611491 NA 16051602, 17704304 Standard NM_018059 NM_018059 NA Approved FLJ10324, KIAA1849, RASIP2 uc003snj.1 Q96JH8 OTTHUMG00000151753 ENST00000399583.3:c.1320G>C chr7.hg19:g.4874334C>G NA A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4 hg19 CCDS43544.1 0.02 7.21507 GCAxAGG COVERED NOVEL RADIL-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000323769.2 0 11.136603 KEEP 0 0 0 37 1338 CC 1 1 0 - 7 60 240 0 0 14.932477 157 60 5841 254 ENST00000399583.3 0.042683 1 PAPOLB 56903 __UNKNOWN__ __UNKNOWN__ 7 4898695 4898695 __UNKNOWN__ 3'UTR SNP T T G rs34928860 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:4898695T>G ENST00000404991.1 - 0 2930 RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron NM_020144.4 NP_064529.4 Q9NRJ5 PAPOB_HUMAN poly(A) polymerase beta (testis specific) NA NA mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|termination of RNA polymerase II transcription (GO:0006369) cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723) kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 14 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14) GACCTACTAATGGTTGATGTC 0.348 NA T||| 1509 0.301318 0.2315 0.2853 5008 , , NA 19086 0.3571 NA 0.2515 False NA ,,, NA NA NA 2504 0.4008 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF218840 7p22.1 2008-02-08 ENSG00000218823 ENSG00000218823 56903 2.7.7.19 15970 protein-coding gene gene with protein product 607436 NA 11150526 Standard NM_020144 NM_020144 NA Approved PAPT uc003snk.3 Q9NRJ5 OTTHUMG00000151759 ENST00000404991.1:c.*833A>C chr7.hg19:g.4898695T>G NA Q75LH1|Q8NE14 hg19 0.02 6.93069 TAAxGGT COVERED NOVEL PAPOLB-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000323797.1 1 9.026587 KEEP 0 0 0 30 936 TT 0.999997 0.999997 0 - 7 60 272 0 0 17.607096 178 60 6570 256 ENST00000404991.1 0.037838 1 PAPOLB 56903 __UNKNOWN__ __UNKNOWN__ 7 4900341 4900341 __UNKNOWN__ Silent SNP G G A rs17135247 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:4900341G>A ENST00000404991.1 - 1 1284 c.1098C>T c.(1096-1098)agC>agT p.S366S RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron NM_020144.4 NP_064529.4 Q9NRJ5 PAPOB_HUMAN poly(A) polymerase beta (testis specific) 366 NA mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|termination of RNA polymerase II transcription (GO:0006369) cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723) kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 14 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14) TTTGAAAGAAGCTTGGAGCTT 0.418 NA G||| 1179 0.235423 0.0325 0.2622 5008 , , NA 20833 0.3105 NA 0.2515 False NA ,,, NA NA NA 2504 0.3967 NA NA NA NA 0 G , 281,4119 146.5+/-181.1 9,263,1928 128 130 129 ,1101 4.5 1 7 dbSNP_123 129 2363,6237 387.8+/-342.3 330,1703,2267 no intron,coding-synonymous RADIL,PAPOLB NM_018059.4,NM_020144.4 , 339,1966,4195 AA,AG,GG 27.4767,6.3864,20.3385 , ,367/638 4900341 2644,10356 2200 4300 6500 SO:0001819 synonymous_variant AF218840 7p22.1 2008-02-08 ENSG00000218823 ENSG00000218823 56903 2.7.7.19 15970 protein-coding gene gene with protein product 607436 NA 11150526 Standard NM_020144 NM_020144 NA Approved PAPT uc003snk.3 Q9NRJ5 OTTHUMG00000151759 ENST00000404991.1:c.1098C>T chr7.hg19:g.4900341G>A NA Q75LH1|Q8NE14 hg19 0.02 23.352246 GAAxCTT COVERED NOVEL PAPOLB-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000323797.1 9 22.574359 KEEP 0 0 0 75 2746 GG 1 1 0 - 17 60 629 0 0 37.799582 555 60 20971 790 ENST00000404991.1 0.02972 1 RADIL 55698 __UNKNOWN__ __UNKNOWN__ 7 4914549 4914549 __UNKNOWN__ Intron SNP C C T rs13437860 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:4914549C>T ENST00000399583.3 - 2 723 RADIL_ENST00000536091.1_Intron NM_018059.4 NP_060529.4 Q96JH8 RADIL_HUMAN Ras association and DIL domains NA NA multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446) microtubule (GO:0005874) NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15) attggccgggcgcggtggctc 0.582 NA c||| 931 0.185903 0.5234 0.0677 5008 , , NA 18006 0.0833 NA 0.0348 False NA ,,, NA NA NA 2504 0.0746 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB058752 CCDS43544.1 7p22.1 2010-08-27 ENSG00000157927 ENSG00000157927 55698 22226 protein-coding gene gene with protein product 611491 NA 16051602, 17704304 Standard NM_018059 NM_018059 NA Approved FLJ10324, KIAA1849, RASIP2 uc003snj.1 Q96JH8 OTTHUMG00000151753 ENST00000399583.3:c.535+2686G>A chr7.hg19:g.4914549C>T NA A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4 hg19 CCDS43544.1 0.02 -0.11403 GGGxGCG UNCOVERED NOVEL RADIL-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000323769.2 7 3.585019 KEEP 5 0 0 12 380 CC 0.99257 0.16126 0 - 3 60 107 0 0 9.081928 10 60 326 30 ENST00000399583.3 0.230769 0.162467 RBAK-RBAKDN 100533952 __UNKNOWN__ __UNKNOWN__ 7 5033422 5033422 __UNKNOWN__ Intron SNP T T C rs36046535 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:5033422T>C ENST00000407184.1 + 2 222 RNF216P1_ENST00000471244.1_RNA RBAK-RBAKDN readthrough NA NA NA TGCTGCAGAGTGGCTGGGCTG 0.542 NA C||| 1148 0.229233 0.1687 0.1599 5008 , , NA 20127 0.3899 NA 0.1412 False NA ,,, NA NA NA 2504 0.2853 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS56463.1 7p22.1 2013-05-20 ENSG00000272968 100533952 42971 other readthrough NA Standard NM_001204513 NA Approved OTTHUMG00000186010 ENST00000407184.1:c.-45+8716T>C chr7.hg19:g.5033422T>C NA hg19 0.02 1.502491 GAGxGGC COVERED NOVEL RBAK-RBAKDN-001 KNOWN basic|appris_principal|readthrough_transcript protein_coding NA protein_coding OTTHUMT00000472007.1 0 3.309404 KEEP 0 0 0 11 336 TT 0.993072 0.98819 0 + 5 60 162 0 0 10.866056 62 60 2255 89 ENST00000407184.1 0.074627 0.995084 RBAK-RBAKDN 100533952 __UNKNOWN__ __UNKNOWN__ 7 5105208 5105208 __UNKNOWN__ Intron SNP C C T rs36026500 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:5105208C>T ENST00000396904.2 + 5 330 RBAK_ENST00000396912.1_Silent_p.N707N|RBAK_ENST00000353796.3_Silent_p.N707N|RBAK-RBAKDN_ENST00000407184.1_Intron NM_001204513.1 NP_001191442.1 RBAK-RBAKDN readthrough NA NA NA GAAATATGAACGTACTTGATG 0.368 NA C||| 890 0.177716 0.0446 0.1499 5008 , , NA 18480 0.373 NA 0.1262 False NA ,,, NA NA NA 2504 0.229 NA NA NA NA 0 C ,, 267,4081 2,263,1909 51 57 55 2121,,2121 -5 0 7 dbSNP_126 55 954,7624 52,850,3387 no coding-synonymous,intron,coding-synonymous RBAK,RBAK-LOC389458 NM_001204456.1,NM_001204513.1,NM_021163.3 ,, 54,1113,5296 TT,TC,CC 11.1215,6.1408,9.4461 ,, 707/715,,707/715 5105208 1221,11705 2174 4289 6463 SO:0001627 intron_variant CCDS56463.1 7p22.1 2013-05-20 ENSG00000272968 100533952 42971 other readthrough NA Standard NM_001204513 NA Approved OTTHUMG00000186010 ENST00000396904.2:c.239-6785C>T chr7.hg19:g.5105208C>T NA hg19 CCDS56463.1 0.02 4.128841 GAAxGTA COVERED NOVEL RBAK-RBAKDN-002 KNOWN basic|readthrough_transcript|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000472011.1 1 8.125337 KEEP 0 0 0 27 897 CC 0.999988 0.999978 0 + 5 60 183 0 0 11.896243 103 60 3460 144 ENST00000396904.2 0.046296 0.999991 RBAK-RBAKDN 100533952 __UNKNOWN__ __UNKNOWN__ 7 5105882 5105882 __UNKNOWN__ Intron SNP T T G rs9690559 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:5105882T>G ENST00000396904.2 + 5 330 RBAK_ENST00000396912.1_3'UTR|RBAK_ENST00000353796.3_3'UTR|RBAK-RBAKDN_ENST00000407184.1_Intron NM_001204513.1 NP_001191442.1 RBAK-RBAKDN readthrough NA NA NA TGAGATAATATTTAATAGGTA 0.318 NA T||| 895 0.178714 0.0454 0.1527 5008 , , NA 17024 0.373 NA 0.1282 False NA ,,, NA NA NA 2504 0.229 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS56463.1 7p22.1 2013-05-20 ENSG00000272968 100533952 42971 other readthrough NA Standard NM_001204513 NA Approved OTTHUMG00000186010 ENST00000396904.2:c.239-6111T>G chr7.hg19:g.5105882T>G NA hg19 CCDS56463.1 0.02 9.018251 ATAxTTA COVERED NOVEL RBAK-RBAKDN-002 KNOWN basic|readthrough_transcript|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000472011.1 0 9.628452 KEEP 0 0 0 32 1006 TT 0.999997 0.999997 0 + 8 60 302 0 0 19.27978 201 60 7207 266 ENST00000396904.2 0.038278 1 RBAK-RBAKDN 100533952 __UNKNOWN__ __UNKNOWN__ 7 5106222 5106222 __UNKNOWN__ Intron SNP T T C rs7808531 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:5106222T>C ENST00000396904.2 + 5 330 RBAK_ENST00000396912.1_3'UTR|RBAK_ENST00000353796.3_3'UTR|RBAK-RBAKDN_ENST00000407184.1_Intron NM_001204513.1 NP_001191442.1 RBAK-RBAKDN readthrough NA NA NA TTCTGTTTGGTACAAATACAG 0.328 NA T||| 2279 0.455072 0.4743 0.3314 5008 , , NA 18365 0.5417 NA 0.4066 False NA ,,, NA NA NA 2504 0.4775 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS56463.1 7p22.1 2013-05-20 ENSG00000272968 100533952 42971 other readthrough NA Standard NM_001204513 NA Approved OTTHUMG00000186010 ENST00000396904.2:c.239-5771T>C chr7.hg19:g.5106222T>C NA hg19 CCDS56463.1 0.02 13.624833 TGGxACA COVERED NOVEL RBAK-RBAKDN-002 KNOWN basic|readthrough_transcript|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000472011.1 1 15.339694 KEEP 0 0 0 51 1513 TT 1 1 0 + 10 60 374 0 0 23.023655 298 60 10625 399 ENST00000396904.2 0.032468 1 RBAK-RBAKDN 100533952 __UNKNOWN__ __UNKNOWN__ 7 5106686 5106686 __UNKNOWN__ Intron SNP C C T rs4585633 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:5106686C>T ENST00000396904.2 + 5 330 RBAK_ENST00000396912.1_3'UTR|RBAK_ENST00000353796.3_3'UTR|RBAK-RBAKDN_ENST00000407184.1_Intron NM_001204513.1 NP_001191442.1 RBAK-RBAKDN readthrough NA NA NA acttacttaactgcataaaga 0.323 NA c||| 2800 0.559105 0.6861 0.4179 5008 , , NA 20625 0.5526 NA 0.508 False NA ,,, NA NA NA 2504 0.547 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS56463.1 7p22.1 2013-05-20 ENSG00000272968 100533952 42971 other readthrough NA Standard NM_001204513 NA Approved OTTHUMG00000186010 ENST00000396904.2:c.239-5307C>T chr7.hg19:g.5106686C>T NA hg19 CCDS56463.1 0.02 7.756558 TAAxTGC COVERED NOVEL RBAK-RBAKDN-002 KNOWN basic|readthrough_transcript|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000472011.1 1 5.417688 KEEP 0 0 0 18 643 CC 0.999859 0.999859 0 + 10 60 357 0 0 22.444868 229 60 8589 281 ENST00000396904.2 0.041841 1 WIPI2 26100 __UNKNOWN__ __UNKNOWN__ 7 5272177 5272177 __UNKNOWN__ 3'UTR SNP C C T rs12472 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:5272177C>T ENST00000288828.4 + 0 3196 NM_001033518.1|NM_001278299.1|NM_015610.3 NP_001028690.1|NP_001265228.1|NP_056425.1 Q9Y4P8 WIPI2_HUMAN WD repeat domain, phosphoinositide interacting 2 NA NA autophagic vacuole assembly (GO:0000045) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|protein complex (GO:0043234) phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266) NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3) 16 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14) AATGGGATCCCGGTCACGCAG 0.577 NA C||| 1013 0.202276 0.0734 0.2925 5008 , , NA 20764 0.2381 NA 0.2018 False NA ,,, NA NA NA 2504 0.2761 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS5339.1, CCDS34593.1, CCDS47531.1, CCDS47532.1, CCDS47533.1 7p22.1 2014-02-12 ENSG00000157954 ENSG00000157954 26100 WD repeat domain containing 32225 protein-coding gene gene with protein product 609225 NA 15602573 Standard NM_015610 NM_001278299 NA Approved Atg21, CGI-50, FLJ12979, FLJ14217, FLJ42984, DKFZP434J154, DKFZp686P02188, ATG18B uc003snv.3 Q9Y4P8 OTTHUMG00000121179 ENST00000288828.4:c.*1599C>T chr7.hg19:g.5272177C>T NA B3KNC2|Q5MNZ8|Q6FI96|Q75L50|Q96IE4|Q9Y364 hg19 CCDS5339.1 0.02 12.98549 TCCxGGT COVERED NOVEL WIPI2-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000241669.2 1 27.523252 KEEP 0 1 33 103 3517 CC 1 1 0 + 9 60 335 0 0 19.676773 338 60 11646 553 ENST00000288828.4 0.025937 1 TNRC18 84629 __UNKNOWN__ __UNKNOWN__ 7 5427517 5427517 __UNKNOWN__ Silent SNP G G A rs34693947 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:5427517G>A ENST00000399537.4 - 5 2286 c.1938C>T c.(1936-1938)ggC>ggT p.G646G TNRC18_ENST00000430969.1_Silent_p.G646G O15417 TNC18_HUMAN trinucleotide repeat containing 18 646 NA chromatin binding (GO:0003682) central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8) 11 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) GCCGGCCGCCGCCCGCTGCAG 0.716 NA G||| 998 0.199281 0.0552 0.0908 5008 , , NA 13710 0.6597 NA 0.0437 False NA ,,, NA NA NA 2504 0.1564 NA NA NA NA 0 G 141,3189 2,137,1526 4 6 5 1938 -5.6 0 7 dbSNP_126 5 219,7185 3,213,3486 no coding-synonymous TNRC18 NM_001080495.2 5,350,5012 AA,AG,GG 2.9579,4.2342,3.3538 646/2969 5427517 360,10374 1665 3702 5367 SO:0001819 synonymous_variant U80753 CCDS47534.1 7p22.1 2012-04-17 ENSG00000182095 ENSG00000182095 84629 Trinucleotide (CAG) repeat containing 11962 protein-coding gene gene with protein product NA 9225980 Standard NM_001080495 NA Approved CAGL79, TNRC18A, KIAA1856 uc003soi.4 O15417 OTTHUMG00000151831 ENST00000399537.4:c.1938C>T chr7.hg19:g.5427517G>A NA A8MX41|Q96JH1|Q96K91 hg19 0.02 11.029283 GCCxCCC COVERED NOVEL TNRC18-001 KNOWN basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000324088.6 2 29.121859 KEEP 0 0 0 97 3186 GG 1 1 0 - 16 60 521 0 0 33.987461 235 60 7636 402 ENST00000399537.4 0.063745 1 TNRC18 84629 __UNKNOWN__ __UNKNOWN__ 7 5434297 5434297 __UNKNOWN__ Intron SNP C C G rs556000584|rs552299990 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:5434297C>G ENST00000399537.4 - 3 536 TNRC18_ENST00000399434.2_Intron|TNRC18_ENST00000430969.1_Intron O15417 TNC18_HUMAN trinucleotide repeat containing 18 NA NA chromatin binding (GO:0003682) central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8) 11 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) CCCACCGCCCCGACCCACCGC 0.706 NA C||| 1 0.000199681 0.0 0.0 5008 , , NA 8439 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U80753 CCDS47534.1 7p22.1 2012-04-17 ENSG00000182095 ENSG00000182095 84629 Trinucleotide (CAG) repeat containing 11962 protein-coding gene gene with protein product NA 9225980 Standard NM_001080495 NA Approved CAGL79, TNRC18A, KIAA1856 uc003soi.4 O15417 OTTHUMG00000151831 ENST00000399537.4:c.188-71G>C chr7.hg19:g.5434297C>G NA A8MX41|Q96JH1|Q96K91 hg19 0.02 -0.149125 CCCxGAC COVERED NOVEL TNRC18-001 KNOWN basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000324088.6 0 3.283972 KEEP 0 0 0 11 345 CC 0.993072 0.289978 0 - 5 60 182 0 0 16.113464 12 60 391 36 ENST00000399537.4 0.294118 0.292001 FBXL18 80028 __UNKNOWN__ __UNKNOWN__ 7 5520929 5520929 __UNKNOWN__ 3'UTR SNP T T C rs10046575 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:5520929T>C ENST00000382368.3 - 0 2757 NM_024963.4 NP_079239.3 Q96ME1 FXL18_HUMAN F-box and leucine-rich repeat protein 18 NA NA FBXL18/RNF216(2) central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3) 21 Ovarian(82;0.0607) UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13) GACACTCAGATACACGGTGAC 0.602 NA C||| 2600 0.519169 0.5825 0.3631 5008 , , NA 10829 0.7103 NA 0.4801 False NA ,,, NA NA NA 2504 0.3875 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK057042 CCDS43546.1 7p22.2 2011-06-09 ENSG00000155034 ENSG00000155034 80028 F-boxes / Leucine-rich repeats 21874 protein-coding gene gene with protein product 609084 NA Standard NM_024963 NM_024963 NA Approved FLJ11467, Fbl18 uc003son.4 Q96ME1 OTTHUMG00000151832 ENST00000382368.3:c.*477A>G chr7.hg19:g.5520929T>C NA Q9BR90|Q9BTC7|Q9HAK7 hg19 CCDS43546.1 0.02 7.159133 AGAxACA COVERED NOVEL FBXL18-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000324093.1 1 10.165475 KEEP 0 1 38 47 1425 TT 1 1 0 - 10 60 383 0 0 26.829699 150 60 5264 256 ENST00000382368.3 0.0625 1 FBXL18 80028 __UNKNOWN__ __UNKNOWN__ 7 5528883 5528883 __UNKNOWN__ Intron SNP G G A rs4724701 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:5528883G>A ENST00000382368.3 - 4 2124 NM_024963.4 NP_079239.3 Q96ME1 FXL18_HUMAN F-box and leucine-rich repeat protein 18 NA NA FBXL18/RNF216(2) central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3) 21 Ovarian(82;0.0607) UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13) TTAAAAATCAGATTACAAAAC 0.398 NA G||| 2483 0.495807 0.4334 0.3775 5008 , , NA 20347 0.7014 NA 0.507 False NA ,,, NA NA NA 2504 0.4407 NA NA NA NA 0 G 779,973 171,437,268 111 112 112 0.2 0 7 dbSNP_111 112 1852,2130 425,1002,564 no intron FBXL18 NM_024963.4 596,1439,832 AA,AG,GG 46.5093,44.4635,45.8842 5528883 2631,3103 876 1991 2867 SO:0001627 intron_variant AK057042 CCDS43546.1 7p22.2 2011-06-09 ENSG00000155034 ENSG00000155034 80028 F-boxes / Leucine-rich repeats 21874 protein-coding gene gene with protein product 609084 NA Standard NM_024963 NM_024963 NA Approved FLJ11467, Fbl18 uc003son.4 Q96ME1 OTTHUMG00000151832 ENST00000382368.3:c.2000+1978C>T chr7.hg19:g.5528883G>A NA Q9BR90|Q9BTC7|Q9HAK7 hg19 CCDS43546.1 0.02 28.876591 TCAxATT COVERED NOVEL FBXL18-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000324093.1 11 27.657705 KEEP 0 2 57 112 3962 GG 1 1 0 - 31 60 1134 0 0 73.486669 649 60 24911 961 ENST00000382368.3 0.045588 1 FBXL18 80028 __UNKNOWN__ __UNKNOWN__ 7 5529499 5529499 __UNKNOWN__ Intron SNP C C G rs559631326 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:5529499C>G ENST00000382368.3 - 4 2124 FBXL18_ENST00000453700.3_Missense_Mutation_p.G782A NM_024963.4 NP_079239.3 Q96ME1 FXL18_HUMAN F-box and leucine-rich repeat protein 18 NA NA FBXL18/RNF216(2) central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3) 21 Ovarian(82;0.0607) UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13) aggttgcaacccagaaagcag 0.453 NA C||| 4 0.000798722 0.0 0.0 5008 , , NA 16197 0.004 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 1 1 1 NA NA 7 NA 5529499 354 718 1072 SO:0001627 intron_variant AK057042 CCDS43546.1 7p22.2 2011-06-09 ENSG00000155034 ENSG00000155034 80028 F-boxes / Leucine-rich repeats 21874 protein-coding gene gene with protein product 609084 NA Standard NM_024963 NM_024963 NA Approved FLJ11467, Fbl18 uc003son.4 Q96ME1 OTTHUMG00000151832 ENST00000382368.3:c.2000+1362G>C chr7.hg19:g.5529499C>G NA Q9BR90|Q9BTC7|Q9HAK7 hg19 CCDS43546.1 0.02 1.996958 AACxCAG COVERED .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 0.023|0.023 -1.403477|-1.403477 0.01165|0.01165 .|. .|. ENSG00000155034|ENSG00000155034 ENST00000312577;ENST00000453700|ENST00000458142 T|T 0.46063|0.43294 0.88|0.95 0.149|0.149 -0.298|-0.298 0.12814|0.12814 .|. .|. .|. .|. .|. T|T 0.34861|0.34861 0.0912|0.0912 .|. .|. .|. 0.09310|0.09310 N|N 1|1 .|. .|. .|. .|. .|. .|. T|T 0.36237|0.36237 -0.9756|-0.9756 5|5 0.87932|0.87932 D|D 0|0 .|. .|. .|. .|. .|. 782|. F5H4Z4|. .|. A|R 782|666 ENSP00000444797:G782A|ENSP00000405896:G666R ENSP00000311990:G782A|ENSP00000405896:G666R G|G -|- 2|1 0|0 FBXL18|FBXL18 5496025|5496025 0.001000|0.001000 0.12720|0.12720 0.034000|0.034000 0.17996|0.17996 0.121000|0.121000 0.20230|0.20230 -0.394000|-0.394000 0.07296|0.07296 -1.149000|-1.149000 0.02843|0.02843 -1.152000|-1.152000 0.01820|0.01820 GGG|GGT NOVEL FBXL18-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000324093.1 11 12.641302 KEEP 0 0 0 42 1493 CC 1 0.979526 0 - 5 60 178 0 0 12.869771 51 60 1902 130 ENST00000382368.3 0.089286 0.979526 FBXL18 80028 __UNKNOWN__ __UNKNOWN__ 7 5529758 5529758 __UNKNOWN__ Intron SNP G G A rs28566736 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:5529758G>A ENST00000382368.3 - 4 2124 FBXL18_ENST00000453700.3_Missense_Mutation_p.R696C NM_024963.4 NP_079239.3 Q96ME1 FXL18_HUMAN F-box and leucine-rich repeat protein 18 NA NA FBXL18/RNF216(2) central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3) 21 Ovarian(82;0.0607) UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13) GGTTGTCGGCGCCCAGTGGCT 0.612 NA G||| 2483 0.495807 0.4327 0.3775 5008 , , NA 16446 0.7014 NA 0.508 False NA ,,, NA NA NA 2504 0.4407 NA NA NA NA 0 G 774,978 169,436,271 20 20 20 -0.4 0 7 dbSNP_125 20 1856,2122 429,998,562 no intron FBXL18 NM_024963.4 598,1434,833 AA,AG,GG 46.6566,44.1781,45.8988 5529758 2630,3100 876 1989 2865 SO:0001627 intron_variant AK057042 CCDS43546.1 7p22.2 2011-06-09 ENSG00000155034 ENSG00000155034 80028 F-boxes / Leucine-rich repeats 21874 protein-coding gene gene with protein product 609084 NA Standard NM_024963 NM_024963 NA Approved FLJ11467, Fbl18 uc003son.4 Q96ME1 OTTHUMG00000151832 ENST00000382368.3:c.2000+1103C>T chr7.hg19:g.5529758G>A NA Q9BR90|Q9BTC7|Q9HAK7 hg19 CCDS43546.1 0.02 12.102127 GGCxCCC COVERED 1167 0.5343406593406593 238 0.483739837398374 134 0.3701657458563536 406 0.7097902097902098 389 0.5131926121372031 G 6.360 0.434568 0.12045 0.441781 0.466566 ENSG00000155034 ENST00000312577;ENST00000453700 T 0.51325 0.71 1.57 -0.391 0.12446 . . . . . T 0.00012 0.0000 . . . 0.80722 P 0.0 P 0.38048 0.616 B 0.19666 0.026 T 0.40478 -0.9561 7 0.37606 T 0.19 . 7.7018 0.28627 0.2859:0.0:0.7141:0.0 rs28566736;rs57916396 696 F5H4Z4 . C 696 ENSP00000444797:R696C ENSP00000311990:R696C R - 1 0 FBXL18 5496284 0.001000 0.12720 0.001000 0.08648 0.000000 0.00434 -0.017000 0.12590 -0.500000 0.06614 -1.579000 0.00862 CGC NOVEL FBXL18-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000324093.1 4 28.527563 KEEP 0 1 32 106 3751 GG 1 1 0 - 16 60 490 0 0 29.163297 318 60 11453 545 ENST00000382368.3 0.047904 1 FBXL18 80028 __UNKNOWN__ __UNKNOWN__ 7 5530827 5530827 __UNKNOWN__ Intron SNP G G A rs3801057 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:5530827G>A ENST00000382368.3 - 4 2124 FBXL18_ENST00000453700.3_Intron NM_024963.4 NP_079239.3 Q96ME1 FXL18_HUMAN F-box and leucine-rich repeat protein 18 NA NA FBXL18/RNF216(2) central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3) 21 Ovarian(82;0.0607) UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13) TGATTTCTGCGGCCCCTGAAG 0.607 NA G||| 2600 0.519169 0.4629 0.4078 5008 , , NA 17474 0.7024 NA 0.5378 False NA ,,, NA NA NA 2504 0.4663 NA NA NA NA 0 G 1870,2332 437,996,668 21 24 23 -5.2 0 7 dbSNP_107 23 4252,4222 1101,2050,1086 no intron FBXL18 NM_024963.4 1538,3046,1754 AA,AG,GG 49.823,44.5026,48.296 5530827 6122,6554 2101 4237 6338 SO:0001627 intron_variant AK057042 CCDS43546.1 7p22.2 2011-06-09 ENSG00000155034 ENSG00000155034 80028 F-boxes / Leucine-rich repeats 21874 protein-coding gene gene with protein product 609084 NA Standard NM_024963 NM_024963 NA Approved FLJ11467, Fbl18 uc003son.4 Q96ME1 OTTHUMG00000151832 ENST00000382368.3:c.2000+34C>T chr7.hg19:g.5530827G>A NA Q9BR90|Q9BTC7|Q9HAK7 hg19 CCDS43546.1 0.02 13.320128 TGCxGCC COVERED NOVEL FBXL18-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000324093.1 0 27.723666 KEEP 0 1 34 104 3559 GG 1 1 0 - 17 60 628 0 0 41.549591 326 60 10710 543 ENST00000382368.3 0.049563 1 ZNF815P 401303 __UNKNOWN__ __UNKNOWN__ 7 5886386 5886386 __UNKNOWN__ RNA SNP A A T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:5886386A>T ENST00000421890.1 + 0 806 A8K554 ZN815_HUMAN zinc finger protein 815, pseudogene NA NA NA AGTTTGTGTTATTTTTTCTAG 0.408 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AK096288 7p22.1 2012-10-05 2012-04-20 2012-04-20 ENSG00000235944 ENSG00000235944 401303 22029 pseudogene pseudogene zinc finger protein 815 ZNF815 NA Standard NR_023382 NA Approved FLJ38969 uc003spc.2 A8K554 OTTHUMG00000155501 ENST00000421890.1: chr7.hg19:g.5886386A>T NA hg19 0.02 1.633887 GTTxTTT COVERED NOVEL ZNF815P-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000340385.1 2 7.441197 KEEP 0 0 0 25 716 AA 0.999931 0.999931 0 + 15 60 207 0 0 8.344273 117 60 3780 208 ENST00000421890.1 0.113636 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 6048845 6048845 __UNKNOWN__ IGR SNP A A G rs2302336 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:6048845A>G NA NA PMS2 (89 upstream) : AIMP2 (30 downstream) NA NA NA GACGTCAAAGAGCCTGGGCCA 0.597 NA a||| 607 0.121206 0.0129 0.0548 5008 , , NA 16326 0.3462 NA 0.0487 False NA ,,, NA NA NA 2504 0.1575 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.6048845A>G NA hg19 0.02 2.194391 AAGxGCC COVERED NOVEL 0 1 17.754763 KEEP 0 0 0 59 1899 AA 1 0.99911 0 4 60 152 0 0 10.235601 75 60 2709 175 0.050633 0.99911 EIF2AK1 27102 __UNKNOWN__ __UNKNOWN__ 7 6066450 6066450 __UNKNOWN__ Missense_Mutation SNP T T C rs2640 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:6066450T>C ENST00000199389.6 - 14 1819 c.1673A>G c.(1672-1674)aAg>aGg p.K558R EIF2AK1_ENST00000536084.1_Missense_Mutation_p.K434R NM_001134335.1|NM_014413.3 NP_001127807.1|NP_055228.2 Q9BQI3 E2AK1_HUMAN eukaryotic translation initiation factor 2-alpha kinase 1 558 Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}. NA K -> R (in dbSNP:rs2640). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:17344846, ECO:0000269|Ref.13}. negative regulation of cell proliferation (GO:0008285)|negative regulation of hemoglobin biosynthetic process (GO:0046986)|negative regulation of translational initiation by iron (GO:0045993)|protein autophosphorylation (GO:0046777)|protoporphyrinogen IX metabolic process (GO:0046501)|regulation of eIF2 alpha phosphorylation by heme (GO:0010999)|response to external stimulus (GO:0009605)|response to stress (GO:0006950) cytoplasm (GO:0005737) ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803) p.K558R(1) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2) 27 Ovarian(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14) CTGGATATACTTGGCTTGCAC 0.468 NA T||| 605 0.120807 0.0106 0.0562 5008 , , NA 19849 0.3323 NA 0.0606 False NA ,,, NA NA NA 2504 0.1595 NA NA NA NA 1 Substitution - Missense(1) stomach(1) T ARG/LYS,ARG/LYS 106,4300 82.9+/-121.4 0,106,2097 142 130 134 1670,1673 4.6 1 7 dbSNP_36 134 398,8202 127.5+/-185.8 13,372,3915 yes missense,missense EIF2AK1 NM_001134335.1,NM_014413.3 26,26 13,478,6012 CC,CT,TT 4.6279,2.4058,3.8751 probably-damaging,probably-damaging 557/630,558/631 6066450 504,12502 2203 4300 6503 SO:0001583 missense BC006524 CCDS5345.1 7p22 2005-01-20 ENSG00000086232 ENSG00000086232 27102 24921 protein-coding gene gene with protein product heme regulated initiation factor 2 alpha kinase 613635 NA 7709427, 10718198 Standard NM_014413 NM_014413 NA Approved HRI, KIAA1369 uc003spp.3 Q9BQI3 OTTHUMG00000090689 ENST00000199389.6:c.1673A>G chr7.hg19:g.6066450T>C ENSP00000199389:p.Lys558Arg NA A8K2R2|Q549K6|Q8NBW3|Q9HC02|Q9NYE0|Q9P0V6|Q9P1J5|Q9P2H8|Q9UHG4 hg19 CCDS5345.1 0.02 11.819698 TACxTGG COVERED 268 0.1227106227106227 6 0.012195121951219513 21 0.058011049723756904 197 0.34440559440559443 44 0.05804749340369393 T 18.69 3.677390 0.68042 0.024058 0.046279 ENSG00000086232 ENST00000199389;ENST00000536084 T;T 0.24538 1.97;1.85 5.72 4.57 0.56435 Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1); 0.096359 0.64402 N 0.000001 T 0.00012 0.0000 L 0.46670 1.46 0.20563 P 0.999886333 B;P;B 0.37864 0.095;0.61;0.025 B;B;B 0.37780 0.126;0.258;0.076 T 0.46938 -0.9155 9 0.36615 T 0.2 -24.9445 11.6281 0.51158 0.0:0.0694:0.0:0.9306 rs2640;rs11567128;rs17136312;rs17136313;rs52808510;rs60637318;rs2640 434;557;558 B4DIP4;Q9BQI3-2;Q9BQI3 .;.;E2AK1_HUMAN R 558;434 ENSP00000199389:K558R;ENSP00000445784:K434R ENSP00000199389:K558R K - 2 0 EIF2AK1 6032976 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 5.974000 0.70465 1.005000 0.39183 0.533000 0.62120 AAG NOVEL EIF2AK1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207373.2 2 27.67862 KEEP 0 0 0 92 2949 TT 1 1 0 - 10 60 381 0 0 24.034037 277 60 10427 495 ENST00000199389.6 0.034843 1 USP42 84132 __UNKNOWN__ __UNKNOWN__ 7 6198997 6198997 __UNKNOWN__ Intron SNP A A G rs78466127 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:6198997A>G ENST00000306177.5 + 17 4101 NM_032172.2 NP_115548.1 Q9H9J4 UBP42_HUMAN ubiquitin specific peptidase 42 NA NA cell differentiation (GO:0030154)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511) ubiquitin-specific protease activity (GO:0004843) breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 35 Ovarian(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14) CTCTGACCATAGCCACTTAAC 0.542 NA A||| 595 0.11881 0.0106 0.0692 5008 , , NA 18030 0.2956 NA 0.0596 False NA ,,, NA NA NA 2504 0.1789 NA NA NA NA 0 A 44,1340 1,42,649 195 184 188 -2.5 0 7 dbSNP_131 188 184,2998 4,176,1411 no intron USP42 NM_032172.2 5,218,2060 GG,GA,AA 5.7825,3.1792,4.9934 6198997 228,4338 692 1591 2283 SO:0001627 intron_variant AK022759 CCDS47535.1 7p22.2 2005-08-08 2005-08-08 ENSG00000106346 ENSG00000106346 84132 Ubiquitin-specific peptidases 20068 protein-coding gene gene with protein product ubiquitin specific protease 42 NA 12838346 Standard XM_166526 NM_032172 NA Approved FLJ12697 uc011jwp.2 Q9H9J4 OTTHUMG00000151888 ENST00000306177.5:c.3944-84A>G chr7.hg19:g.6198997A>G NA A2RUE3|B5MDA5|Q0VIN8|Q3C166|Q6P9B4 hg19 CCDS47535.1 0.02 9.521392 CATxGCC COVERED NOVEL USP42-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000324262.3 2 15.275244 KEEP 0 1 29 61 1885 AA 1 1 0 + 7 60 269 0 0 16.775125 213 60 7735 340 ENST00000306177.5 0.031818 1 FAM220A 84792 __UNKNOWN__ __UNKNOWN__ 7 6370077 6370077 __UNKNOWN__ Missense_Mutation SNP C C T rs2241445 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:6370077C>T ENST00000313324.4 - 2 1176 c.709G>A c.(709-711)Ggt>Agt p.G237S NM_001037163.1 NP_001032240.1 Q7Z4H9 F220A_HUMAN family with sequence similarity 220, member A 237 NA G -> S (in dbSNP:rs2241445). nucleus (GO:0005634) NA ATCTGCAGACCATCTGAGGTG 0.383 NA C||| 419 0.0836661 0.0015 0.0821 5008 , , NA 21019 0.1716 NA 0.0447 False NA ,,, NA NA NA 2504 0.1452 NA NA NA NA 0 C SER/GLY 34,4372 38.4+/-70.7 0,34,2169 92 97 95 709 2.2 0 7 dbSNP_98 95 279,8321 104.0+/-165.0 5,269,4026 no missense C7orf70 NM_001037163.1 56 5,303,6195 TT,TC,CC 3.2442,0.7717,2.4066 probably-damaging 237/260 6370077 313,12693 2203 4300 6503 SO:0001583 missense BC006110 CCDS34599.1 7p22.1 2012-03-19 2012-03-19 2012-03-19 ENSG00000178397 ENSG00000178397 84792 22422 protein-coding gene gene with protein product STAT3-interacting protein as a repressor chromosome 7 open reading frame 70 C7orf70 NA Standard NM_001037163 NM_001037163 NA Approved SIPAR, MGC12966 uc003spu.3 Q7Z4H9 OTTHUMG00000122091 ENST00000313324.4:c.709G>A chr7.hg19:g.6370077C>T ENSP00000317289:p.Gly237Ser NA Q75ML2|Q8NA52|Q9BRR7 hg19 CCDS34599.1 0.02 13.397088 GACxATC COVERED 143 0.06547619047619048 2 0.0040650406504065045 15 0.04143646408839779 92 0.16083916083916083 34 0.044854881266490766 C 13.47 2.245522 0.39697 0.007717 0.032442 ENSG00000178397 ENST00000313324 T 0.08370 3.1 5.4 2.18 0.27775 . 0.760301 0.10946 U 0.616629 T 0.00039 0.0001 L 0.43152 1.355 0.58432 P 1.0000000000287557E-6 P 0.42518 0.782 B 0.34652 0.187 T 0.42616 -0.9441 9 0.42905 T 0.14 -0.2208 2.7435 0.05260 0.0:0.4173:0.2498:0.3329 rs2241445;rs52837089;rs58934856;rs2241445 237 Q7Z4H9 SIPAR_HUMAN S 237 ENSP00000317289:G237S ENSP00000317289:G237S G - 1 0 C7orf70 6336602 0.034000 0.19679 0.009000 0.14445 0.116000 0.19942 0.422000 0.21296 0.653000 0.30826 0.561000 0.74099 GGT NOVEL FAM220A-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000242853.2 1 13.844356 KEEP 0 0 0 46 1593 CC 1 1 0 - 12 60 453 0 0 28.583108 322 60 11973 420 ENST00000313324.4 0.035928 1 FAM220A 84792 __UNKNOWN__ __UNKNOWN__ 7 6370144 6370144 __UNKNOWN__ Silent SNP G G A rs1043965 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:6370144G>A ENST00000313324.4 - 2 1109 c.642C>T c.(640-642)gaC>gaT p.D214D NM_001037163.1 NP_001032240.1 Q7Z4H9 F220A_HUMAN family with sequence similarity 220, member A 214 NA nucleus (GO:0005634) NA GCTTTAAACGGTCAAGGAAAA 0.478 NA G||| 2215 0.442292 0.6884 0.3703 5008 , , NA 20112 0.4603 NA 0.1988 False NA ,,, NA NA NA 2504 0.3926 NA NA NA NA 0 G 2713,1693 653.2+/-399.5 847,1019,337 120 128 126 642 1.2 0 7 dbSNP_86 126 1700,6900 310.2+/-309.8 166,1368,2766 no coding-synonymous C7orf70 NM_001037163.1 1013,2387,3103 AA,AG,GG 19.7674,38.4249,33.9305 214/260 6370144 4413,8593 2203 4300 6503 SO:0001819 synonymous_variant BC006110 CCDS34599.1 7p22.1 2012-03-19 2012-03-19 2012-03-19 ENSG00000178397 ENSG00000178397 84792 22422 protein-coding gene gene with protein product STAT3-interacting protein as a repressor chromosome 7 open reading frame 70 C7orf70 NA Standard NM_001037163 NM_001037163 NA Approved SIPAR, MGC12966 uc003spu.3 Q7Z4H9 OTTHUMG00000122091 ENST00000313324.4:c.642C>T chr7.hg19:g.6370144G>A NA Q75ML2|Q8NA52|Q9BRR7 hg19 CCDS34599.1 0.02 19.019816 ACGxTCA COVERED NOVEL FAM220A-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000242853.2 2 22.871723 KEEP 0 0 0 76 2675 GG 1 1 0 - 13 60 465 0 0 27.113165 440 60 15961 624 ENST00000313324.4 0.028698 1 FAM220A 84792 __UNKNOWN__ __UNKNOWN__ 7 6370575 6370575 __UNKNOWN__ Missense_Mutation SNP C C T rs3750041 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:6370575C>T ENST00000313324.4 - 2 678 c.211G>A c.(211-213)Ggg>Agg p.G71R NM_001037163.1 NP_001032240.1 Q7Z4H9 F220A_HUMAN family with sequence similarity 220, member A 71 NA G -> R (in dbSNP:rs3750041). nucleus (GO:0005634) NA AGGCCAGCCCCGCTCGGATCC 0.537 NA C||| 1038 0.207268 0.2655 0.1455 5008 , , NA 18609 0.1865 NA 0.1203 False NA ,,, NA NA NA 2504 0.2832 NA NA NA NA 0 C ARG/GLY 1050,3356 142,766,1295 35 36 36 211 0 0 7 dbSNP_107 36 1087,7509 75,937,3286 yes missense C7orf70 NM_001037163.1 125 217,1703,4581 TT,TC,CC 12.6454,23.8311,16.4359 probably-damaging 71/260 6370575 2137,10865 2203 4298 6501 SO:0001583 missense BC006110 CCDS34599.1 7p22.1 2012-03-19 2012-03-19 2012-03-19 ENSG00000178397 ENSG00000178397 84792 22422 protein-coding gene gene with protein product STAT3-interacting protein as a repressor chromosome 7 open reading frame 70 C7orf70 NA Standard NM_001037163 NM_001037163 NA Approved SIPAR, MGC12966 uc003spu.3 Q7Z4H9 OTTHUMG00000122091 ENST00000313324.4:c.211G>A chr7.hg19:g.6370575C>T ENSP00000317289:p.Gly71Arg NA Q75ML2|Q8NA52|Q9BRR7 hg19 CCDS34599.1 0.02 10.167276 CCCxGCT COVERED 340 0.15567765567765568 106 0.21544715447154472 40 0.11049723756906077 101 0.17657342657342656 93 0.12269129287598944 C 9.667 1.145767 0.21288 0.238311 0.126454 ENSG00000178397 ENST00000313324;ENST00000524898;ENST00000530143 T;T;T 0.07800 3.16;3.16;3.16 4.77 0.00971 0.14080 . 1.059630 0.07575 U 0.919155 T 0.00012 0.0000 L 0.36672 1.1 0.80722 P 0.0 P 0.43826 0.818 B 0.32624 0.149 T 0.37079 -0.9721 9 0.09338 T 0.73 . 3.4474 0.07486 0.0:0.3036:0.2137:0.4827 rs3750041;rs52811320;rs3750041 71 Q7Z4H9 SIPAR_HUMAN R 71 ENSP00000317289:G71R;ENSP00000432444:G71R;ENSP00000436886:G71R ENSP00000317289:G71R G - 1 0 C7orf70 6337100 0.000000 0.05858 0.000000 0.03702 0.023000 0.10783 -0.016000 0.12613 0.090000 0.17273 -0.119000 0.15052 GGG NOVEL FAM220A-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000242853.2 3 13.241365 KEEP 0 0 0 44 1473 CC 1 1 0 - 12 60 428 0 0 26.988289 270 60 9449 405 ENST00000313324.4 0.042553 1 DAGLB 221955 __UNKNOWN__ __UNKNOWN__ 7 6449496 6449496 __UNKNOWN__ Missense_Mutation SNP T T C rs2303361 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:6449496T>C ENST00000425398.2 - 13 1695 c.1604A>G c.(1603-1605)cAa>cGa p.Q535R DAGLB_ENST00000297056.6_Missense_Mutation_p.Q664R|DAGLB_ENST00000436575.1_Missense_Mutation_p.Q623R NM_001142936.1 NP_001136408.1 Q8NCG7 DGLB_HUMAN diacylglycerol lipase, beta 664 NA arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|lipid catabolic process (GO:0016042)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168) integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886) hydrolase activity (GO:0016787)|metal ion binding (GO:0046872) breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2) 26 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.102) GGAGACCCCTTGTGCTGGACA 0.587 NA T||| 816 0.162939 0.0545 0.1816 5008 , , NA 17814 0.2669 NA 0.2107 False NA ,,, NA NA NA 2504 0.1401 NA NA NA NA 0 T ARG/GLN,ARG/GLN 414,3992 20,374,1809 62 59 60 1604,1991 -1.7 0 7 dbSNP_100 60 1889,6711 231,1427,2642 yes missense,missense DAGLB NM_001142936.1,NM_139179.3 43,43 251,1801,4451 CC,CT,TT 21.9651,9.3963,17.7072 benign,benign 535/544,664/673 6449496 2303,10703 2203 4300 6503 SO:0001583 missense AF450090 CCDS5350.1, CCDS47536.1 7p22.1 2008-03-18 ENSG00000164535 ENSG00000164535 221955 3.1.1.- 28923 protein-coding gene gene with protein product 614016 NA Standard NM_139179 NM_139179 NA Approved KCCR13L, DAGLBETA uc003sqa.3 Q8NCG7 OTTHUMG00000125513 ENST00000425398.2:c.1604A>G chr7.hg19:g.6449496T>C ENSP00000391171:p.Gln535Arg NA A4D2P3|B3KV90|B4DQU0|Q6PIX3|Q8N2N2|Q8N9S1|Q8TED3|Q8WXE6 hg19 CCDS47536.1 0.02 27.022805 CCTxGTG COVERED 388 0.17765567765567766 30 0.06097560975609756 71 0.19613259668508287 124 0.21678321678321677 163 0.21503957783641162 . 5.573 0.290535 0.10567 0.093963 0.219651 ENSG00000164535 ENST00000297056;ENST00000425398;ENST00000436575 T;T;T 0.44083 0.94;0.93;0.94 5.79 -1.66 0.08265 . 1.121680 0.06392 N 0.717245 T 0.00012 0.0000 L 0.51422 1.61 0.58432 P 1.999999999946489E-6 B;B;B;B 0.13145 0.007;0.0;0.003;0.0 B;B;B;B 0.08055 0.003;0.001;0.001;0.0 T 0.25012 -1.0144 9 0.11182 T 0.66 -17.9873 6.5442 0.22397 0.0:0.2794:0.3284:0.3923 rs2303361;rs57945063;rs2303361 535;478;664;361 B4DQU0;B4DQQ6;Q8NCG7;B3KRA0 .;.;DGLB_HUMAN;. R 664;535;623 ENSP00000297056:Q664R;ENSP00000391171:Q535R;ENSP00000404785:Q623R ENSP00000297056:Q664R Q - 2 0 DAGLB 6416021 0.003000 0.15002 0.000000 0.03702 0.274000 0.26718 0.453000 0.21811 -0.549000 0.06191 -0.280000 0.10049 CAA NOVEL DAGLB-002 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000341922.1 2 32.845525 KEEP 0 1 10 113 3497 TT 1 1 0 - 19 60 706 0 0 42.514299 623 60 22810 937 ENST00000425398.2 0.029595 1 DAGLB 221955 __UNKNOWN__ __UNKNOWN__ 7 6456347 6456347 __UNKNOWN__ Silent SNP G G T rs1055428 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:6456347G>T ENST00000425398.2 - 9 1042 c.951C>A c.(949-951)ggC>ggA p.G317G DAGLB_ENST00000297056.6_Silent_p.G446G|DAGLB_ENST00000436575.1_Silent_p.G405G|DAGLB_ENST00000421761.2_Silent_p.G190G|DAGLB_ENST00000428902.2_Silent_p.G319G NM_001142936.1 NP_001136408.1 Q8NCG7 DGLB_HUMAN diacylglycerol lipase, beta 446 NA arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|lipid catabolic process (GO:0016042)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168) integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886) hydrolase activity (GO:0016787)|metal ion binding (GO:0046872) breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2) 26 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.102) CGGCCGCCCCGCCCCCGAGGC 0.637 NA G||| 761 0.151957 0.0348 0.1744 5008 , , NA 14012 0.245 NA 0.2097 False NA ,,, NA NA NA 2504 0.1391 NA NA NA NA 0 G , 330,4076 166.9+/-198.0 12,306,1885 35 39 38 951,1338 -9.5 0 7 dbSNP_86 38 1860,6740 320.0+/-314.4 222,1416,2662 no coding-synonymous,coding-synonymous DAGLB NM_001142936.1,NM_139179.3 , 234,1722,4547 TT,TG,GG 21.6279,7.4898,16.8384 , 317/544,446/673 6456347 2190,10816 2203 4300 6503 SO:0001819 synonymous_variant AF450090 CCDS5350.1, CCDS47536.1 7p22.1 2008-03-18 ENSG00000164535 ENSG00000164535 221955 3.1.1.- 28923 protein-coding gene gene with protein product 614016 NA Standard NM_139179 NM_139179 NA Approved KCCR13L, DAGLBETA uc003sqa.3 Q8NCG7 OTTHUMG00000125513 ENST00000425398.2:c.951C>A chr7.hg19:g.6456347G>T NA A4D2P3|B3KV90|B4DQU0|Q6PIX3|Q8N2N2|Q8N9S1|Q8TED3|Q8WXE6 hg19 CCDS47536.1 0.02 6.11844 CCCxCCC COVERED NOVEL DAGLB-002 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000341922.1 2 18.958228 KEEP 0 0 0 63 2122 GG 1 1 0 - 7 60 240 0 0 14.192936 192 60 6439 326 ENST00000425398.2 0.035176 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 7107661 7107661 __UNKNOWN__ IGR SNP T T C rs13240934 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:7107661T>C NA NA AC092104.1 (581 upstream) : AC092104.3 (13 downstream) NA NA NA tgatactacttccaatgttac 0.423 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.7107661T>C NA hg19 0.02 -0.245644 ACTxCCA COVERED NOVEL 0 0 2.707393 KEEP 0 0 0 9 267 TT 0.99254 0.636563 0 5 60 174 0 0 14.258296 21 60 747 54 0.192308 0.641347 GLCCI1 113263 __UNKNOWN__ __UNKNOWN__ 7 8021570 8021570 __UNKNOWN__ Intron SNP A A G rs12537880 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:8021570A>G ENST00000223145.5 + 1 1014 RPA3-AS1_ENST00000469183.1_Intron|GLCCI1_ENST00000474269.1_Intron NM_138426.3 NP_612435.1 Q86VQ1 GLCI1_HUMAN glucocorticoid induced transcript 1 NA NA cytoplasm (GO:0005737) endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 25 Ovarian(82;0.0608) UCEC - Uterine corpus endometrioid carcinoma (126;0.206) CTCTGAAGTAAAAGAAGATGA 0.368 NA A||| 818 0.163339 0.0938 0.2104 5008 , , NA 19636 0.2212 NA 0.1362 False NA ,,, NA NA NA 2504 0.1922 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC050291 CCDS34601.1 7p22.2 2008-08-18 ENSG00000106415 ENSG00000106415 113263 18713 protein-coding gene gene with protein product 614283 NA Standard NM_138426 NM_138426 NA Approved GIG18, FAM117C, TSSN1 uc003srk.4 Q86VQ1 OTTHUMG00000151984 ENST00000223145.5:c.457+12132A>G chr7.hg19:g.8021570A>G NA A4D103|Q96FD0 hg19 CCDS34601.1 0.02 2.064875 GTAxAAG COVERED NOVEL GLCCI1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000324672.1 1 2.708175 KEEP 0 0 0 9 279 AA 0.99254 0.989724 0 + 4 60 151 0 0 10.325965 67 60 2403 85 ENST00000223145.5 0.056338 0.997163 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 9767725 9767725 __UNKNOWN__ IGR SNP G G T rs72583761 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:9767725G>T NA NA AC079756.1 (133372 upstream) : AC060834.3 (9225 downstream) NA NA NA TCTGGGTTCCGGCTGACTCCT 0.572 NA g||| 965 0.192692 0.1747 0.2522 5008 , , NA 17427 0.3948 NA 0.0467 False NA ,,, NA NA NA 2504 0.1166 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.9767725G>T NA hg19 0.02 -0.333332 TCCxGCT UNCOVERED NOVEL 0 0 2.407359 KEEP 3 0 0 8 261 GG 0 0 0 3 60 102 0 0 7.081699 35 60 1174 53 0.078947 0.851984 PHF14 9678 __UNKNOWN__ __UNKNOWN__ 7 11075263 11075263 __UNKNOWN__ Intron SNP A A G rs2353340 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:11075263A>G ENST00000403050.3 + 8 1907 PHF14_ENST00000445996.2_Intron NM_014660.3 NP_055475.2 O94880 PHF14_HUMAN PHD finger protein 14 NA NA lung alveolus development (GO:0048286)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of platelet-derived growth factor receptor-alpha signaling pathway (GO:2000584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122) nucleus (GO:0005634) zinc ion binding (GO:0008270) NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 35 UCEC - Uterine corpus endometrioid carcinoma (126;0.205) CTTTCTTTGTATAGGATATAG 0.338 NA A||| 2292 0.457668 0.2935 0.5533 5008 , , NA 17820 0.747 NA 0.337 False NA ,,, NA NA NA 2504 0.4376 NA NA NA NA 0 A 1091,2601 169,753,924 111 109 110 0.1 0 7 dbSNP_100 110 2870,5308 488,1894,1707 no intron PHF14 NM_014660.3 657,2647,2631 GG,GA,AA 35.0942,29.5504,33.3698 11075263 3961,7909 1846 4089 5935 SO:0001627 intron_variant AB018326 CCDS47542.1 7p21.3 2013-01-28 ENSG00000106443 ENSG00000106443 9678 Zinc fingers, PHD-type 22203 protein-coding gene gene with protein product NA 9872452 Standard NM_014660 NM_014660 NA Approved KIAA0783 uc003sry.2 O94880 OTTHUMG00000150463 ENST00000403050.3:c.1456-4A>G chr7.hg19:g.11075263A>G NA A7MCZ3|B4DI82 hg19 CCDS47542.1 0.02 9.552949 TGTxTAG COVERED NOVEL PHF14-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000318212.1 1 4.512974 KEEP 0 0 0 15 464 AA 0.99649 0.99649 0 + 8 60 310 0 0 20.148557 197 60 6908 232 ENST00000403050.3 0.039024 1 THSD7A 221981 __UNKNOWN__ __UNKNOWN__ 7 11676694 11676694 __UNKNOWN__ Intron SNP C C A rs386710329|rs2074597 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:11676694C>A ENST00000423059.4 - 2 442 THSD7A_ENST00000480061.1_Intron NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A NA NA angiogenesis (GO:0001525)|cell differentiation (GO:0030154) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) AACTTCCCTGCGGTGTTACAA 0.383 NA HNSCC(18;0.044) A||| 1716 0.342652 0.497 0.2622 5008 , , NA 19824 0.4484 NA 0.1978 False NA ,,, NA NA NA 2504 0.2311 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS47543.1 7p21.3 2006-10-16 ENSG00000005108 ENSG00000005108 221981 22207 protein-coding gene gene with protein product 612249 NA Standard XM_928187.2 NM_015204 NA Approved KIAA0960 uc021zzn.1 Q9UPZ6 OTTHUMG00000152346 ENST00000423059.4:c.191-106G>T chr7.hg19:g.11676694C>A NA hg19 CCDS47543.1 0.02 2.29104 CTGxGGT COVERED NOVEL THSD7A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000325944.4 0 2.707505 KEEP 0 0 0 9 269 CC 0.99254 0.988259 0 - 6 60 222 1 0 16.251997 62 60 1972 80 ENST00000423059.4 0.088235 0.995687 VWDE 221806 __UNKNOWN__ __UNKNOWN__ 7 12400837 12400837 __UNKNOWN__ Missense_Mutation SNP G G A rs2053380 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:12400837G>A ENST00000275358.3 - 15 3283 c.3095C>T c.(3094-3096)aCg>aTg p.T1032M NM_001135924.1 NP_001129396.1 Q8N2E2 VWDE_HUMAN von Willebrand factor D and EGF domains 1032 NA T -> M (in dbSNP:rs2053380). {ECO:0000269|PubMed:15489334}. extracellular region (GO:0005576) breast(4)|endometrium(2)|kidney(1)|skin(1) 8 ATATATGACCGTTATTTTGGG 0.274 NA A||| 3829 0.764577 0.9047 0.5504 5008 , , NA 17012 0.7222 NA 0.6938 False NA ,,, NA NA NA 2504 0.8436 NA NA NA NA 0 A MET/THR 1198,186 515,168,9 45 39 40 3095 3.1 0.3 7 dbSNP_94 40 2291,869 833,625,122 yes missense VWDE NM_001135924.1 81 1348,793,131 AA,AG,GG 27.5,13.4393,23.2174 benign 1032/1591 12400837 3489,1055 692 1580 2272 SO:0001583 missense CCDS47544.1 7p21.3 2008-09-23 ENSG00000146530 ENSG00000146530 221806 21897 protein-coding gene gene with protein product NA 14702039, 16303743 Standard XM_371878 NM_001135924 NA Approved FLJ14712 uc003ssj.2 Q8N2E2 OTTHUMG00000152315 ENST00000275358.3:c.3095C>T chr7.hg19:g.12400837G>A ENSP00000275358:p.Thr1032Met NA B7ZM77|Q96SQ3 hg19 CCDS47544.1 0.02 4.757298 ACCxTTA COVERED 1594 0.7298534798534798 442 0.8983739837398373 213 0.5883977900552486 404 0.7062937062937062 535 0.7058047493403694 A 2.602 -0.292704 0.05568 0.865607 0.725 ENSG00000146530 ENST00000275358;ENST00000536307 D 0.81739 -1.53 4.27 3.11 0.35812 . 0.330235 0.32548 N 0.005949 T 0.00012 0.0000 N 0.00237 -1.79 0.51233 P 8.900000000000574E-5 B 0.02656 0.0 B 0.01281 0.0 T 0.42413 -0.9453 9 0.02654 T 1 . 8.143 0.31095 0.8311:0.0:0.1689:0.0 rs2053380;rs10352304;rs17183147;rs52789789;rs61355083;rs2053380 1032 Q8N2E2 VWDE_HUMAN M 1032;486 ENSP00000275358:T1032M ENSP00000275358:T1032M T - 2 0 VWDE 12367362 1.000000 0.71417 0.268000 0.24571 0.850000 0.48378 5.010000 0.64004 0.288000 0.22398 -0.254000 0.11334 ACG NOVEL VWDE-001 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000325870.3 1 3.009841 KEEP 0 0 0 10 354 GG 0.992708 0.992705 0 - 66 60 2458 0 0 242.85365 50 60 1714 154 ENST00000275358.3 0.568966 0.999997 VWDE 221806 __UNKNOWN__ __UNKNOWN__ 7 12420447 12420447 __UNKNOWN__ Intron SNP T T G rs6959370 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:12420447T>G ENST00000275358.3 - 5 730 NM_001135924.1 NP_001129396.1 Q8N2E2 VWDE_HUMAN von Willebrand factor D and EGF domains NA NA extracellular region (GO:0005576) breast(4)|endometrium(2)|kidney(1)|skin(1) 8 TATAACTCTGTGGTTTATCTT 0.348 NA G||| 3081 0.615216 0.4803 0.6715 5008 , , NA 19173 0.628 NA 0.6879 False NA ,,, NA NA NA 2504 0.6697 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS47544.1 7p21.3 2008-09-23 ENSG00000146530 ENSG00000146530 221806 21897 protein-coding gene gene with protein product NA 14702039, 16303743 Standard XM_371878 NM_001135924 NA Approved FLJ14712 uc003ssj.2 Q8N2E2 OTTHUMG00000152315 ENST00000275358.3:c.542-88A>C chr7.hg19:g.12420447T>G NA B7ZM77|Q96SQ3 hg19 CCDS47544.1 0.02 2.145117 CTGxGGT COVERED NOVEL VWDE-001 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000325870.3 2 3.611411 KEEP 0 0 0 12 395 TT 0.993634 0.993564 0 - 5 60 186 0 0 12.45774 91 60 3340 124 ENST00000275358.3 0.052083 0.99993 AC005281.1 0 __UNKNOWN__ __UNKNOWN__ 7 12547207 12547207 __UNKNOWN__ lincRNA SNP G G A rs7788605 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:12547207G>A ENST00000418428.2 + 0 211 NA NA NA TTTTATAAGCGTAGGTTTTGA 0.323 NA A||| 790 0.157748 0.031 0.1412 5008 , , NA 16966 0.2192 NA 0.1998 False NA ,,, NA NA NA 2504 0.2342 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000418428.2: chr7.hg19:g.12547207G>A NA hg19 0.02 1.85984 AGCxTAG COVERED NOVEL AC005281.1-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000326034.3 0 2.407509 KEEP 0 0 0 8 277 GG 0.99257 0.992062 0 + 4 60 149 0 0 9.847854 79 60 2884 95 ENST00000418428.2 0.048193 0.999487 ARL4A 10124 __UNKNOWN__ __UNKNOWN__ 7 12727774 12727774 __UNKNOWN__ Intron SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:12727774C>T ENST00000396663.1 + 2 393 ARL4A_ENST00000356797.3_Intron|ARL4A_ENST00000396664.2_Intron|ARL4A_ENST00000404894.1_Intron|ARL4A_ENST00000396662.1_Intron NM_001037164.2|NM_001195396.1|NM_005738.4|NM_212460.3 NP_001032241.1|NP_001182325.1|NP_005729.1|NP_997625.1 P40617 ARL4A_HUMAN ADP-ribosylation factor-like 4A NA NA brown fat cell differentiation (GO:0050873)|small GTPase mediated signal transduction (GO:0007264) cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886) GTP binding (GO:0005525) NS(2)|lung(3)|ovary(1) 6 UCEC - Uterine corpus endometrioid carcinoma (126;0.176) TAACTTATTCCTTCTTCCGTC 0.368 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U73960 CCDS5359.1 7p21.3 2014-05-09 2005-11-03 2005-11-03 ENSG00000122644 ENSG00000122644 10124 ADP-ribosylation factors-like, ADP-ribosylation factors 695 protein-coding gene gene with protein product 604786 ADP-ribosylation factor-like 4 ARL4 NA Standard NM_005738 NM_212460 NA Approved uc003ssq.3 P40617 OTTHUMG00000023374 ENST00000396663.1:c.-89-17C>T chr7.hg19:g.12727774C>T NA A4D119|P80418|Q49AF5 hg19 CCDS5359.1 0.02 14.959382 TTCxTTC COVERED NOVEL ARL4A-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000326036.1 5 33.107592 KEEP 0 0 0 110 3897 CC 1 1 0 + 12 60 454 0 0 27.808439 382 60 14195 627 ENST00000396663.1 0.030457 1 MEOX2 4223 __UNKNOWN__ __UNKNOWN__ 7 15726066 15726066 __UNKNOWN__ 5'UTR SNP G G A rs1050290 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:15726066G>A ENST00000262041.5 - 0 371 NM_005924.4 NP_005915.2 P50222 MEOX2_HUMAN mesenchyme homeobox 2 NA NA angiogenesis (GO:0001525)|blood circulation (GO:0008015)|limb development (GO:0060173)|multicellular organismal development (GO:0007275)|neuron death (GO:0070997)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle tissue development (GO:0007519)|somite specification (GO:0001757) cytoplasm (GO:0005737)|nucleus (GO:0005634) RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding (GO:0043565) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (126;0.0822) AGACTTCACGGCGGTTCCAAA 0.552 NA A||| 3406 0.680112 0.8563 0.6542 5008 , , NA 14483 0.7202 NA 0.6402 False NA ,,, NA NA NA 2504 0.4601 NA NA NA Esophageal Squamous(140;197 1769 16409 18257 29929) NA 0 A 3571,773 1473,625,74 12 11 12 1.1 0 7 dbSNP_86 12 5398,3062 1760,1878,592 no utr-5 MEOX2 NM_005924.4 3233,2503,666 AA,AG,GG 36.1939,17.7947,29.9516 15726066 8969,3835 2172 4230 6402 SO:0001623 5_prime_UTR_variant CCDS34605.1 7p22.1-p21.3 2014-07-15 2005-12-22 ENSG00000106511 ENSG00000106511 4223 Homeoboxes / ANTP class : HOXL subclass 7014 protein-coding gene gene with protein product growth arrest-specific homeobox 600535 mesenchyme homeo box 2 (growth arrest-specific homeo box), mesenchyme homeobox 2 (growth arrest-specific homeo box) GAX NA 7713505 Standard NM_005924 NM_005924 NA Approved MOX2 uc003stc.3 P50222 OTTHUMG00000152390 ENST00000262041.5:c.-39C>T chr7.hg19:g.15726066G>A NA B2R8I7|O75263|Q9UPL6 hg19 CCDS34605.1 0.02 30.999866 ACGxCGG COVERED NOVEL MEOX2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000326058.2 1 38.023827 KEEP 0 3 78 154 5505 GG 1 1 0 - 59 60 2067 0 0 144.177716 719 60 26667 1210 ENST00000262041.5 0.075835 1 MEOX2 4223 __UNKNOWN__ __UNKNOWN__ 7 15726129 15726129 __UNKNOWN__ 5'UTR SNP A A C rs11975534|rs71525656 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:15726129A>C ENST00000262041.5 - 0 308 NM_005924.4 NP_005915.2 P50222 MEOX2_HUMAN mesenchyme homeobox 2 NA NA angiogenesis (GO:0001525)|blood circulation (GO:0008015)|limb development (GO:0060173)|multicellular organismal development (GO:0007275)|neuron death (GO:0070997)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle tissue development (GO:0007519)|somite specification (GO:0001757) cytoplasm (GO:0005737)|nucleus (GO:0005634) RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding (GO:0043565) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (126;0.0822) TTTTTTTTTAACCTCCCAAAG 0.522 NA C||| 3231 0.645168 0.7549 0.6455 5008 , , NA 14293 0.7044 NA 0.6362 False NA ,,, NA NA NA 2504 0.4448 NA NA NA Esophageal Squamous(140;197 1769 16409 18257 29929) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant CCDS34605.1 7p22.1-p21.3 2014-07-15 2005-12-22 ENSG00000106511 ENSG00000106511 4223 Homeoboxes / ANTP class : HOXL subclass 7014 protein-coding gene gene with protein product growth arrest-specific homeobox 600535 mesenchyme homeo box 2 (growth arrest-specific homeo box), mesenchyme homeobox 2 (growth arrest-specific homeo box) GAX NA 7713505 Standard NM_005924 NM_005924 NA Approved MOX2 uc003stc.3 P50222 OTTHUMG00000152390 ENST00000262041.5:c.-102T>G chr7.hg19:g.15726129A>C NA B2R8I7|O75263|Q9UPL6 hg19 CCDS34605.1 0.02 24.044656 TTAxCCT COVERED NOVEL MEOX2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000326058.2 1 32.790302 KEEP 0 0 0 109 3256 AA 1 1 0 - 31 60 1166 0 0 80.23321 495 60 16818 768 ENST00000262041.5 0.058935 1 MEOX2 4223 __UNKNOWN__ __UNKNOWN__ 7 15726373 15726373 __UNKNOWN__ 5'UTR SNP C C T rs917441 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:15726373C>T ENST00000262041.5 - 0 64 NM_005924.4 NP_005915.2 P50222 MEOX2_HUMAN mesenchyme homeobox 2 NA NA angiogenesis (GO:0001525)|blood circulation (GO:0008015)|limb development (GO:0060173)|multicellular organismal development (GO:0007275)|neuron death (GO:0070997)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle tissue development (GO:0007519)|somite specification (GO:0001757) cytoplasm (GO:0005737)|nucleus (GO:0005634) RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding (GO:0043565) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (126;0.0822) GGCTTAGGAGCCCAGAGTTGA 0.552 NA OREG0002265 type=TRANSCRIPTION FACTOR BINDING SITE|Gene=MEOX2|TFbs=HRF-1 Left|TFbs=USER DEFINED HRF-1|EvidenceSubtype=Gel shift competition C||| 3206 0.640176 0.7042 0.6455 5008 , , NA 17673 0.7232 NA 0.6421 False NA ,,, NA NA NA 2504 0.4622 NA NA NA Esophageal Squamous(140;197 1769 16409 18257 29929) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant CCDS34605.1 7p22.1-p21.3 2014-07-15 2005-12-22 ENSG00000106511 ENSG00000106511 4223 Homeoboxes / ANTP class : HOXL subclass 7014 protein-coding gene gene with protein product growth arrest-specific homeobox 600535 mesenchyme homeo box 2 (growth arrest-specific homeo box), mesenchyme homeobox 2 (growth arrest-specific homeo box) GAX NA 7713505 Standard NM_005924 NM_005924 NA Approved MOX2 uc003stc.3 P50222 OTTHUMG00000152390 ENST00000262041.5:c.-346G>A chr7.hg19:g.15726373C>T 704 B2R8I7|O75263|Q9UPL6 hg19 CCDS34605.1 0.02 4.08072 GAGxCCA COVERED NOVEL MEOX2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000326058.2 0 8.9626 KEEP 0 1 32 41 1464 CC 1 0.999999 0 - 6 60 219 0 0 14.314962 119 60 4408 223 ENST00000262041.5 0.048 0.999999 LRRC72 100506049 __UNKNOWN__ __UNKNOWN__ 7 16566645 16566645 __UNKNOWN__ Missense_Mutation SNP C C G rs2301968 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:16566645C>G ENST00000401542.2 + 1 125 c.68C>G c.(67-69)aCt>aGt p.T23S SOSTDC1_ENST00000396652.1_Intron|LRRC72_ENST00000482711.1_3'UTR NM_001195280.1 NP_001182209.1 A6NJI9 LRC72_HUMAN leucine rich repeat containing 72 23 NA NA GCATCCGAAACTGCCCTACAG 0.672 NA C||| 386 0.0770767 0.0386 0.0533 5008 , , NA 14684 0.1528 NA 0.1183 False NA ,,, NA NA NA 2504 0.0256 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense CCDS56464.1 7p21.1 2011-10-07 ENSG00000205858 ENSG00000205858 100506049 42972 protein-coding gene gene with protein product NA Standard NM_001195280 NA Approved uc022aaf.1 A6NJI9 OTTHUMG00000152446 ENST00000401542.2:c.68C>G chr7.hg19:g.16566645C>G ENSP00000384971:p.Thr23Ser NA hg19 CCDS56464.1 0.02 11.313284 AAAxTGC COVERED 205 0.09386446886446886 16 0.032520325203252036 28 0.07734806629834254 70 0.12237762237762238 91 0.12005277044854881 C 2.190 -0.385487 0.04966 . . ENSG00000205858 ENST00000401542 T 0.23147 1.92 4.43 -0.694 0.11294 . . . . . T 0.00144 0.0004 N 0.12182 0.205 0.80722 P 0.0 . . . . . . T 0.32693 -0.9897 6 0.21540 T 0.41 . 0.6047 0.00750 0.1807:0.3562:0.1635:0.2995 rs2301968;rs17465070;rs52837496;rs2301968 . . . S 23 ENSP00000384971:T23S ENSP00000371558:T23S T + 2 0 AC005014.4 16533170 0.000000 0.05858 0.000000 0.03702 0.002000 0.02628 -0.248000 0.08854 -0.132000 0.11557 0.655000 0.94253 ACT NOVEL LRRC72-001 NOVEL not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000326249.2 0 15.048538 KEEP 0 0 0 50 1783 CC 1 1 0 + 9 60 335 1 0 20.928871 244 60 9009 360 ENST00000401542.2 0.035573 1 TSPAN13 27075 __UNKNOWN__ __UNKNOWN__ 7 16823117 16823117 __UNKNOWN__ 3'UTR SNP T T G rs17136588 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:16823117T>G ENST00000262067.4 + 0 1049 NM_014399.3 NP_055214.1 O95857 TSN13_HUMAN tetraspanin 13 NA NA integral component of plasma membrane (GO:0005887)|membrane (GO:0016020) autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)|stomach(1) 7 Lung NSC(10;0.0494)|all_lung(11;0.109) UCEC - Uterine corpus endometrioid carcinoma (126;0.188) ATTCCTTTGATGAGAAAACAA 0.403 NA T||| 568 0.113419 0.0946 0.0706 5008 , , NA 15479 0.1766 NA 0.0686 False NA ,,, NA NA NA 2504 0.1503 NA NA NA NA 0 T 397,4009 197.1+/-221.3 16,365,1822 137 141 139 3.5 0.9 7 dbSNP_123 139 710,7890 175.5+/-225.5 37,636,3627 no utr-3 TSPAN13 NM_014399.3 53,1001,5449 GG,GT,TT 8.2558,9.0104,8.5115 16823117 1107,11899 2203 4300 6503 SO:0001624 3_prime_UTR_variant AF100759 CCDS5363.1 7p21.2 2013-02-14 2005-03-21 2005-03-21 ENSG00000106537 ENSG00000106537 27075 Tetraspanins 21643 protein-coding gene gene with protein product 613139 transmembrane 4 superfamily member 13 TM4SF13 NA Standard NM_014399 NM_014399 NA Approved NET-6 uc003stq.3 O95857 OTTHUMG00000022968 ENST00000262067.4:c.*1T>G chr7.hg19:g.16823117T>G NA hg19 CCDS5363.1 0.02 27.111841 TGAxGAG COVERED NOVEL TSPAN13-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250178.2 4 24.375445 KEEP 0 0 0 81 2602 TT 1 1 0 + 18 70 658 0 0 38.641391 634 60 23618 927 ENST00000262067.4 0.027607 1 TSPAN13 27075 __UNKNOWN__ __UNKNOWN__ 7 16823169 16823169 __UNKNOWN__ 3'UTR SNP A A C rs3807498 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:16823169A>C ENST00000262067.4 + 0 1101 NM_014399.3 NP_055214.1 O95857 TSN13_HUMAN tetraspanin 13 NA NA integral component of plasma membrane (GO:0005887)|membrane (GO:0016020) autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)|stomach(1) 7 Lung NSC(10;0.0494)|all_lung(11;0.109) UCEC - Uterine corpus endometrioid carcinoma (126;0.188) CACTTTCTGTAATTTTCTGTT 0.363 NA A||| 649 0.129593 0.1331 0.1052 5008 , , NA 17210 0.1835 NA 0.0676 False NA ,,, NA NA NA 2504 0.1503 NA NA NA NA 0 A 189,1195 12,165,515 92 81 85 3.4 0 7 dbSNP_107 85 261,2921 12,237,1342 no utr-3 TSPAN13 NM_014399.3 24,402,1857 CC,CA,AA 8.2024,13.6561,9.8555 16823169 450,4116 692 1591 2283 SO:0001624 3_prime_UTR_variant AF100759 CCDS5363.1 7p21.2 2013-02-14 2005-03-21 2005-03-21 ENSG00000106537 ENSG00000106537 27075 Tetraspanins 21643 protein-coding gene gene with protein product 613139 transmembrane 4 superfamily member 13 TM4SF13 NA Standard NM_014399 NM_014399 NA Approved NET-6 uc003stq.3 O95857 OTTHUMG00000022968 ENST00000262067.4:c.*53A>C chr7.hg19:g.16823169A>C NA hg19 CCDS5363.1 0.02 21.053696 TGTxATT COVERED NOVEL TSPAN13-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250178.2 1 14.137549 KEEP 0 0 0 47 1374 AA 1 1 0 + 14 60 489 0 0 28.879795 445 60 15943 567 ENST00000262067.4 0.030501 1 SNX13 23161 __UNKNOWN__ __UNKNOWN__ 7 17834689 17834689 __UNKNOWN__ 3'UTR SNP T T A rs56391843 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:17834689T>A ENST00000409389.1 - 0 4592 SNX13_ENST00000496855.1_Intron|SNX13_ENST00000428135.3_Intron Q9Y5W8 SNX13_HUMAN sorting nexin 13 NA NA intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032) early endosome (GO:0005769)|membrane (GO:0016020) phosphatidylinositol binding (GO:0035091) breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 38 Lung NSC(10;0.0261)|all_lung(11;0.0521) GTAACTAGAATAACAAAGCAT 0.358 NA T||| 742 0.148163 0.0696 0.1787 5008 , , NA 16257 0.0774 NA 0.2127 False NA ,,, NA NA NA 2504 0.2393 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF420470 CCDS47551.1 7p21.1 2008-03-11 ENSG00000071189 ENSG00000071189 23161 Sorting nexins 21335 protein-coding gene gene with protein product 606589 NA 11485546, 11729322 Standard NM_015132 NM_015132 NA Approved RGS-PX1, KIAA0713 uc003stv.3 Q9Y5W8 OTTHUMG00000152730 ENST00000409389.1:c.*1753A>T chr7.hg19:g.17834689T>A NA B2RCI9|O94821|Q8WVZ2|Q8WXH8 hg19 0.02 10.659818 GAAxAAC COVERED NOVEL SNX13-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000327608.1 2 4.415598 KEEP 0 3 98 49 1509 TT 1 1 0 - 11 60 398 0 0 25.274984 249 60 9045 369 ENST00000409389.1 0.042308 1 PRPS1L1 221823 __UNKNOWN__ __UNKNOWN__ 7 18066569 18066569 __UNKNOWN__ Missense_Mutation SNP C C A rs3800962 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:18066569C>A ENST00000506618.2 - 1 917 c.837G>T c.(835-837)gaG>gaT p.E279D NM_175886.2 NP_787082 P21108 PRPS3_HUMAN phosphoribosyl pyrophosphate synthetase 1-like 1 279 NA E -> D (in dbSNP:rs3800962). {ECO:0000269|PubMed:15489334}. 5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|nucleotide biosynthetic process (GO:0009165)|ribonucleoside monophosphate biosynthetic process (GO:0009156) ATP binding (GO:0005524)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749) endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3) 18 Lung NSC(10;0.0385)|all_lung(11;0.0736) GCTTCATCTTCTCATCTTGAG 0.433 NA A||| 1326 0.264776 0.1974 0.3977 5008 , , NA 19661 0.1548 NA 0.4165 False NA ,,, NA NA NA 2504 0.2188 NA NA NA NA 0 A ASP/GLU 1003,3399 717.9+/-408.8 108,787,1306 189 188 189 837 -2.1 1 7 dbSNP_107 189 3641,4959 622.0+/-397.3 738,2165,1397 yes missense PRPS1L1 NM_175886.2 45 846,2952,2703 AA,AC,CC 42.3372,22.7851,35.7176 benign 279/319 18066569 4644,8358 2201 4300 6501 SO:0001583 missense M57423 CCDS47552.1 7p21.1 2010-12-10 ENSG00000229937 ENSG00000229937 221823 9463 protein-coding gene gene with protein product 611566 PRPSL NA 2168892 Standard NM_175886 NM_175886 NA Approved PRPS3 uc003stz.3 P21108 OTTHUMG00000152742 ENST00000506618.2:c.837G>T chr7.hg19:g.18066569C>A ENSP00000424595:p.Glu279Asp NA Q6P5P6 hg19 CCDS47552.1 0.02 14.803117 CTTxTCA COVERED 657 0.3008241758241758 85 0.17276422764227642 154 0.425414364640884 93 0.16258741258741258 325 0.4287598944591029 A 0.593 -0.832338 0.02713 0.227851 0.423372 ENSG00000229937 ENST00000506618 T 0.71934 -0.61 4.44 -2.11 0.07187 . . . . . T 0.00012 0.0000 N 0.13198 0.31 . . . B 0.02656 0.0 B 0.04013 0.001 T 0.22138 -1.0225 8 0.02654 T 1 . 7.6097 0.28122 0.2:0.5365:0.2635:0.0 rs3800962;rs11567145;rs12699958;rs17846612;rs17859698;rs3800962 279 P21108 PRPS3_HUMAN D 279 ENSP00000424595:E279D ENSP00000424595:E279D E - 3 2 PRPS1L1 18033094 0.993000 0.37304 0.965000 0.40720 0.801000 0.45260 0.374000 0.20501 -0.531000 0.06340 -0.264000 0.10439 GAG NOVEL PRPS1L1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000327667.1 2 6.320573 KEEP 0 0 0 21 757 CC 0.999879 0.999879 0 - 10 60 377 0 0 22.294317 379 60 14472 474 ENST00000506618.2 0.025707 1 HDAC9 9734 __UNKNOWN__ __UNKNOWN__ 7 18201812 18201812 __UNKNOWN__ Intron SNP T T C rs373056229 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:18201812T>C ENST00000417496.2 + 2 265 NM_001204144.1 NP_001191073.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 NA NA B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134) breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) TGACTTGATATAGCTTGTATC 0.453 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF124924 CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1 7p21.1 2008-05-15 ENSG00000048052 ENSG00000048052 9734 14065 protein-coding gene gene with protein product 606543 NA 10523670, 10487760 Standard NM_178425 NA Approved KIAA0744, HDAC, MITR, HD7, HDAC7B uc003sui.3 Q9UKV0 OTTHUMG00000152487 ENST00000417496.2:c.-96-40T>C chr7.hg19:g.18201812T>C NA A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3 hg19 CCDS56465.1 0.02 19.633047 ATAxAGC COVERED NOVEL HDAC9-005 PUTATIVE basic|CCDS protein_coding NA protein_coding OTTHUMT00000326646.3 1 14.740448 KEEP 0 0 0 49 1449 TT 1 1 0 + 12 60 458 0 0 27.232031 462 60 16969 598 ENST00000417496.2 0.025316 1 HDAC9 9734 __UNKNOWN__ __UNKNOWN__ 7 18617987 18617987 __UNKNOWN__ Intron SNP C C T rs536964332 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:18617987C>T ENST00000524023.1 + 2 134 HDAC9_ENST00000476135.1_Intron|HDAC9_ENST00000428307.2_Intron|HDAC9_ENST00000432645.2_Intron|HDAC9_ENST00000405010.3_Intron|HDAC9_ENST00000401921.1_Intron|HDAC9_ENST00000456174.2_Intron|HDAC9_ENST00000406451.4_Intron|HDAC9_ENST00000441542.2_Intron|HDAC9_ENST00000417496.2_Intron|HDAC9_ENST00000406072.1_Intron NM_001204147.1 NP_001191076.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 NA NA B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134) breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) GATCAGCTTTCCCCAGGTGGA 0.493 NA C||| 1 0.000199681 0.0 0.0 5008 , , NA 20450 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF124924 CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1 7p21.1 2008-05-15 ENSG00000048052 ENSG00000048052 9734 14065 protein-coding gene gene with protein product 606543 NA 10523670, 10487760 Standard NM_178425 NA Approved KIAA0744, HDAC, MITR, HD7, HDAC7B uc003sui.3 Q9UKV0 OTTHUMG00000152487 ENST00000524023.1:c.-71-6917C>T chr7.hg19:g.18617987C>T NA A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3 hg19 CCDS56468.1 0.02 1.868639 TTTxCCC COVERED NOVEL HDAC9-022 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000376089.1 0 4.815656 KEEP 0 0 0 16 561 CC 0.997832 0.99724 0 + 4 60 137 0 0 8.676492 78 60 2784 108 ENST00000524023.1 0.04878 0.999407 HDAC9 9734 __UNKNOWN__ __UNKNOWN__ 7 18624800 18624800 __UNKNOWN__ Intron SNP T T C rs2073974 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:18624800T>C ENST00000524023.1 + 2 134 HDAC9_ENST00000476135.1_Intron|HDAC9_ENST00000428307.2_Intron|HDAC9_ENST00000432645.2_Intron|HDAC9_ENST00000405010.3_Intron|HDAC9_ENST00000401921.1_Intron|HDAC9_ENST00000456174.2_Intron|HDAC9_ENST00000406451.4_Intron|HDAC9_ENST00000441542.2_Intron|HDAC9_ENST00000417496.2_Intron|HDAC9_ENST00000406072.1_Intron NM_001204147.1 NP_001191076.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 NA NA B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134) breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) TAAAATTTGTTGTACAGGGTC 0.328 NA T||| 2598 0.51877 0.3971 0.5663 5008 , , NA 19751 0.629 NA 0.5229 False NA ,,, NA NA NA 2504 0.5317 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF124924 CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1 7p21.1 2008-05-15 ENSG00000048052 ENSG00000048052 9734 14065 protein-coding gene gene with protein product 606543 NA 10523670, 10487760 Standard NM_178425 NA Approved KIAA0744, HDAC, MITR, HD7, HDAC7B uc003sui.3 Q9UKV0 OTTHUMG00000152487 ENST00000524023.1:c.-71-104T>C chr7.hg19:g.18624800T>C NA A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3 hg19 CCDS56468.1 0.02 11.27016 TGTxGTA COVERED NOVEL HDAC9-022 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000376089.1 1 6.91901 KEEP 0 0 0 23 682 TT 0.999892 0.999892 0 + 9 60 313 0 0 18.485832 261 60 9312 324 ENST00000524023.1 0.033333 1 HDAC9 9734 __UNKNOWN__ __UNKNOWN__ 7 18706918 18706918 __UNKNOWN__ Intron SNP G G A rs801524 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:18706918G>A ENST00000441542.2 + 11 1731 HDAC9_ENST00000432645.2_Intron|HDAC9_ENST00000405010.3_3'UTR|HDAC9_ENST00000401921.1_Intron|HDAC9_ENST00000406451.4_Intron|HDAC9_ENST00000406072.1_3'UTR NM_178425.2 NP_848512.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 NA NA B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134) breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) ACAATATTGTGTCTACAATTG 0.313 NA A||| 2327 0.464657 0.8177 0.4078 5008 , , NA 19878 0.5149 NA 0.175 False NA ,,, NA NA NA 2504 0.274 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF124924 CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1 7p21.1 2008-05-15 ENSG00000048052 ENSG00000048052 9734 14065 protein-coding gene gene with protein product 606543 NA 10523670, 10487760 Standard NM_178425 NA Approved KIAA0744, HDAC, MITR, HD7, HDAC7B uc003sui.3 Q9UKV0 OTTHUMG00000152487 ENST00000441542.2:c.1731+819G>A chr7.hg19:g.18706918G>A NA A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3 hg19 CCDS47553.1 0.02 8.610434 TGTxTCT COVERED NOVEL HDAC9-021 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000376088.1 1 12.638651 KEEP 0 0 0 42 1494 GG 1 1 0 + 10 60 370 1 0 23.651811 234 60 8840 339 ENST00000441542.2 0.040984 1 HDAC9 9734 __UNKNOWN__ __UNKNOWN__ 7 18767343 18767343 __UNKNOWN__ Silent SNP A A G rs1178127 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:18767343A>G ENST00000441542.2 + 12 1872 c.1872A>G c.(1870-1872)ccA>ccG p.P624P HDAC9_ENST00000432645.2_Silent_p.P621P|HDAC9_ENST00000401921.1_Silent_p.P580P|HDAC9_ENST00000406451.4_Silent_p.P621P NM_178425.2 NP_848512.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 621 NA B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134) breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) TACCTCACCCAGCAATGGACC 0.552 NA A||| 1652 0.329872 0.2133 0.2997 5008 , , NA 18396 0.5159 NA 0.2565 False NA ,,, NA NA NA 2504 0.3926 NA NA NA NA 0 A ,, 806,3178 85,636,1271 45 50 48 1863,1863,1872 2.7 1 7 dbSNP_87 48 2083,6223 263,1557,2333 no coding-synonymous,coding-synonymous,coding-synonymous HDAC9 NM_058176.2,NM_178423.1,NM_178425.2 ,, 348,2193,3604 GG,GA,AA 25.0783,20.2309,23.5069 ,, 621/1012,621/1067,624/1070 18767343 2889,9401 1992 4153 6145 SO:0001819 synonymous_variant AF124924 CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1 7p21.1 2008-05-15 ENSG00000048052 ENSG00000048052 9734 14065 protein-coding gene gene with protein product 606543 NA 10523670, 10487760 Standard NM_178425 NA Approved KIAA0744, HDAC, MITR, HD7, HDAC7B uc003sui.3 Q9UKV0 OTTHUMG00000152487 ENST00000441542.2:c.1872A>G chr7.hg19:g.18767343A>G NA A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3 hg19 CCDS47553.1 0.02 18.312657 CCCxGCA COVERED NOVEL HDAC9-021 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000376088.1 4 13.572657 KEEP 0 1 34 57 1779 AA 1 1 0 + 15 60 551 0 0 33.985384 417 60 15646 605 ENST00000441542.2 0.034722 1 HDAC9 9734 __UNKNOWN__ __UNKNOWN__ 7 18767386 18767386 __UNKNOWN__ Intron SNP A A C rs17139769 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:18767386A>C ENST00000441542.2 + 12 1909 HDAC9_ENST00000432645.2_Intron|HDAC9_ENST00000401921.1_Intron|HDAC9_ENST00000406451.4_Intron NM_178425.2 NP_848512.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 NA NA B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134) breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) AACTGGTAGGAATCCCTAAAG 0.507 NA A||| 431 0.0860623 0.1006 0.1066 5008 , , NA 19431 0.1022 NA 0.0099 False NA ,,, NA NA NA 2504 0.1135 NA NA NA NA 0 A ,, 371,3513 10,351,1581 34 36 35 ,, 2.8 1 7 dbSNP_123 35 39,8211 1,37,4087 no intron,intron,intron HDAC9 NM_058176.2,NM_178423.1,NM_178425.2 ,, 11,388,5668 CC,CA,AA 0.4727,9.552,3.3789 ,, ,, 18767386 410,11724 1942 4125 6067 SO:0001627 intron_variant AF124924 CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1 7p21.1 2008-05-15 ENSG00000048052 ENSG00000048052 9734 14065 protein-coding gene gene with protein product 606543 NA 10523670, 10487760 Standard NM_178425 NA Approved KIAA0744, HDAC, MITR, HD7, HDAC7B uc003sui.3 Q9UKV0 OTTHUMG00000152487 ENST00000441542.2:c.1909+6A>C chr7.hg19:g.18767386A>C NA A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3 hg19 CCDS47553.1 0.02 14.692415 AGGxATC COVERED NOVEL HDAC9-021 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000376088.1 6 10.827701 KEEP 0 0 0 36 1064 AA 1 1 0 + 13 60 500 0 0 32.562123 309 60 10921 404 ENST00000441542.2 0.040373 1 HDAC9 9734 __UNKNOWN__ __UNKNOWN__ 7 18788589 18788589 __UNKNOWN__ Intron SNP T T C rs1178164 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:18788589T>C ENST00000441542.2 + 13 1909 HDAC9_ENST00000432645.2_Intron|HDAC9_ENST00000401921.1_Intron|HDAC9_ENST00000406451.4_Intron NM_178425.2 NP_848512.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 NA NA B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134) breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) TATCTTGTACTGTTACTCAAT 0.358 NA C||| 2241 0.447484 0.587 0.33 5008 , , NA 18245 0.6429 NA 0.2276 False NA ,,, NA NA NA 2504 0.3671 NA NA NA NA 0 C ,, 1965,1817 498,969,424 57 54 55 ,, -4.4 0 7 dbSNP_87 55 1801,6425 193,1415,2505 no intron,intron,intron HDAC9 NM_058176.2,NM_178423.1,NM_178425.2 ,, 691,2384,2929 CC,CT,TT 21.894,48.0434,31.3624 ,, ,, 18788589 3766,8242 1891 4113 6004 SO:0001627 intron_variant AF124924 CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1 7p21.1 2008-05-15 ENSG00000048052 ENSG00000048052 9734 14065 protein-coding gene gene with protein product 606543 NA 10523670, 10487760 Standard NM_178425 NA Approved KIAA0744, HDAC, MITR, HD7, HDAC7B uc003sui.3 Q9UKV0 OTTHUMG00000152487 ENST00000441542.2:c.1910-39T>C chr7.hg19:g.18788589T>C NA A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3 hg19 CCDS47553.1 0.02 10.98496 TACxGTT COVERED NOVEL HDAC9-021 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000376088.1 0 6.921061 KEEP 0 0 0 23 725 TT 0.999892 0.999892 0 + 14 60 499 0 0 33.010097 242 60 9084 337 ENST00000441542.2 0.054687 1 HDAC9 9734 __UNKNOWN__ __UNKNOWN__ 7 18914251 18914251 __UNKNOWN__ Intron SNP C C G rs2286213 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:18914251C>G ENST00000441542.2 + 21 2803 HDAC9_ENST00000432645.2_Intron|HDAC9_ENST00000401921.1_Intron|HDAC9_ENST00000406451.4_Intron NM_178425.2 NP_848512.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 NA NA B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134) breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) TTACGAAAGGCTCTGATATCA 0.423 NA C||| 2079 0.415136 0.4153 0.4107 5008 , , NA 19240 0.3343 NA 0.3579 False NA ,,, NA NA NA 2504 0.5603 NA NA NA NA 0 C ,, 1512,2222 311,890,666 43 39 40 ,, 0.1 0 7 dbSNP_100 40 2843,5327 549,1745,1791 no intron,intron,intron HDAC9 NM_058176.2,NM_178423.1,NM_178425.2 ,, 860,2635,2457 GG,GC,CC 34.798,40.4928,36.5843 ,, ,, 18914251 4355,7549 1867 4085 5952 SO:0001627 intron_variant AF124924 CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1 7p21.1 2008-05-15 ENSG00000048052 ENSG00000048052 9734 14065 protein-coding gene gene with protein product 606543 NA 10523670, 10487760 Standard NM_178425 NA Approved KIAA0744, HDAC, MITR, HD7, HDAC7B uc003sui.3 Q9UKV0 OTTHUMG00000152487 ENST00000441542.2:c.2803+32C>G chr7.hg19:g.18914251C>G NA A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3 hg19 CCDS47553.1 0.02 1.646031 AGGxTCT COVERED NOVEL HDAC9-021 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000376088.1 0 3.611685 KEEP 0 0 0 12 417 CC 0.993634 0.993564 0 + 4 60 148 0 0 9.489634 92 60 3541 126 ENST00000441542.2 0.041667 0.99993 HDAC9 9734 __UNKNOWN__ __UNKNOWN__ 7 19035920 19035920 __UNKNOWN__ 3'UTR SNP T T C rs2074633 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:19035920T>C ENST00000406451.4 + 0 3586 NM_178423.1 NP_848510.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 NA NA B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134) breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) TAAACCACGATTGGAAGAAAC 0.408 NA T||| 1463 0.292133 0.2738 0.2493 5008 , , NA 20040 0.3601 NA 0.2237 False NA ,,, NA NA NA 2504 0.3476 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF124924 CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1 7p21.1 2008-05-15 ENSG00000048052 ENSG00000048052 9734 14065 protein-coding gene gene with protein product 606543 NA 10523670, 10487760 Standard NM_178425 NA Approved KIAA0744, HDAC, MITR, HD7, HDAC7B uc003sui.3 Q9UKV0 OTTHUMG00000152487 ENST00000406451.4:c.*235T>C chr7.hg19:g.19035920T>C NA A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3 hg19 CCDS47554.1 0.02 4.329949 CGAxTGG COVERED NOVEL HDAC9-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000326405.2 1 5.41593 KEEP 0 0 0 18 555 TT 0.999859 0.999859 0 + 6 60 203 0 0 12.420686 135 60 4828 180 ENST00000406451.4 0.042553 1 TMEM196 256130 __UNKNOWN__ __UNKNOWN__ 7 19760413 19760413 __UNKNOWN__ 3'UTR SNP C C A rs2285926 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:19760413C>A ENST00000405764.3 - 0 2500 TMEM196_ENST00000405844.1_3'UTR NM_152774.3 NP_689987.3 Q5HYL7 TM196_HUMAN transmembrane protein 196 NA NA integral component of membrane (GO:0016021) breast(1)|large_intestine(1)|lung(4) 6 TATGGACTGCCTATATTATTT 0.323 NA C||| 20 0.00399361 0.0 0.0 5008 , , NA 15762 0.0198 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS34607.2 7p15.3 2007-11-21 ENSG00000173452 ENSG00000173452 256130 22431 protein-coding gene gene with protein product NA Standard NM_152774 NM_152774 NA Approved MGC42090 uc011jyg.2 Q5HYL7 OTTHUMG00000152504 ENST00000405764.3:c.*1285G>T chr7.hg19:g.19760413C>A NA Q8N6I6 hg19 CCDS34607.2 0.02 4.52792 TGCxTAT COVERED NOVEL TMEM196-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000326499.1 0 4.815577 KEEP 0 0 0 16 562 CC 0.997832 0.997822 0 - 6 60 225 0 0 15.301824 102 60 3793 142 ENST00000405764.3 0.055556 0.999991 MACC1 346389 __UNKNOWN__ __UNKNOWN__ 7 20178175 20178175 __UNKNOWN__ 3'UTR SNP C C T rs10258424|rs112585387 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:20178175C>T ENST00000400331.5 - 0 5261 NM_182762.3 NP_877439.3 Q6ZN28 MACC1_HUMAN metastasis associated in colon cancer 1 NA NA positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1) 39 AAAAACTGTGCTTTTTTTTCC 0.294 NA T||| 3633 0.725439 0.7716 0.6859 5008 , , NA 14242 0.8472 NA 0.5825 False NA ,,, NA NA NA 2504 0.7127 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS5369.1 7p15.3 2008-10-14 ENSG00000183742 ENSG00000183742 346389 30215 protein-coding gene gene with protein product 612646 NA Standard NM_182762 NM_182762 NA Approved 7A5, SH3BP4L uc003sus.4 Q6ZN28 OTTHUMG00000128415 ENST00000400331.5:c.*2394G>A chr7.hg19:g.20178175C>T NA A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5 hg19 CCDS5369.1 0.02 3.948029 GTGxTTT COVERED NOVEL MACC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250202.5 1 11.135062 KEEP 0 0 0 37 1329 CC 1 1 0 - 10 60 352 0 0 24.331981 130 60 4943 216 ENST00000400331.5 0.071429 1 MACC1 346389 __UNKNOWN__ __UNKNOWN__ 7 20179170 20179170 __UNKNOWN__ 3'UTR SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:20179170C>T ENST00000400331.5 - 0 4266 NM_182762.3 NP_877439.3 Q6ZN28 MACC1_HUMAN metastasis associated in colon cancer 1 NA NA positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1) 39 CTACTAAAGTCAGAGTTCATG 0.348 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS5369.1 7p15.3 2008-10-14 ENSG00000183742 ENSG00000183742 346389 30215 protein-coding gene gene with protein product 612646 NA Standard NM_182762 NM_182762 NA Approved 7A5, SH3BP4L uc003sus.4 Q6ZN28 OTTHUMG00000128415 ENST00000400331.5:c.*1399G>A chr7.hg19:g.20179170C>T NA A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5 hg19 CCDS5369.1 0.02 6.199389 AGTxAGA COVERED NOVEL MACC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250202.5 2 9.329687 KEEP 0 0 0 31 1065 CC 0.999997 0.999997 0 - 6 60 218 0 0 13.442605 161 60 6093 226 ENST00000400331.5 0.035928 1 MACC1 346389 __UNKNOWN__ __UNKNOWN__ 7 20180717 20180717 __UNKNOWN__ Missense_Mutation SNP C C G rs3735615 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:20180717C>G ENST00000400331.5 - 7 2719 c.2411G>C c.(2410-2412)aGa>aCa p.R804T MACC1_ENST00000589011.1_Missense_Mutation_p.R804T|MACC1_ENST00000332878.4_Missense_Mutation_p.R804T NM_182762.3 NP_877439.3 Q6ZN28 MACC1_HUMAN metastasis associated in colon cancer 1 804 NA R -> T (in dbSNP:rs3735615). {ECO:0000269|PubMed:14702039}. positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1) 39 TAACACATCTCTGTAGTTATT 0.358 NA C||| 3022 0.603435 0.3911 0.5764 5008 , , NA 16212 0.8194 NA 0.5815 False NA ,,, NA NA NA 2504 0.7096 NA NA NA NA 0 C THR/ARG 1811,2595 524.4+/-371.3 380,1051,772 83 85 85 2411 4.9 1 7 dbSNP_107 85 5002,3598 624.7+/-397.6 1471,2060,769 yes missense MACC1 NM_182762.3 71 1851,3111,1541 GG,GC,CC 41.8372,41.103,47.6165 probably-damaging 804/853 20180717 6813,6193 2203 4300 6503 SO:0001583 missense CCDS5369.1 7p15.3 2008-10-14 ENSG00000183742 ENSG00000183742 346389 30215 protein-coding gene gene with protein product 612646 NA Standard NM_182762 NM_182762 NA Approved 7A5, SH3BP4L uc003sus.4 Q6ZN28 OTTHUMG00000128415 ENST00000400331.5:c.2411G>C chr7.hg19:g.20180717C>G ENSP00000383185:p.Arg804Thr NA A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5 hg19 CCDS5369.1 0.02 9.572502 TCTxTGT COVERED 1366 0.6254578754578755 224 0.45528455284552843 219 0.6049723756906077 482 0.8426573426573427 441 0.5817941952506597 C 20.4 3.983394 0.74474 0.41103 0.581628 ENSG00000183742 ENST00000400331;ENST00000332878 T;T 0.37752 1.18;1.18 5.74 4.87 0.63330 . 0.130847 0.64402 D 0.000002 T 0.00012 0.0000 M 0.81497 2.545 0.21184 P 0.999767261 D 0.76494 0.999 D 0.64144 0.922 T 0.07790 -1.0754 9 0.66056 D 0.02 -15.5312 14.8695 0.70444 0.0:0.9311:0.0:0.0689 rs3735615;rs52825803;rs3735615 804 Q6ZN28 MACC1_HUMAN T 804 ENSP00000383185:R804T;ENSP00000328410:R804T ENSP00000328410:R804T R - 2 0 MACC1 20147242 1.000000 0.71417 1.000000 0.80357 0.821000 0.46438 3.200000 0.51051 1.426000 0.47256 0.655000 0.94253 AGA NOVEL MACC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250202.5 4 17.457476 KEEP 0 0 0 58 2091 CC 1 1 0 - 10 60 385 0 0 25.731381 204 60 7852 347 ENST00000400331.5 0.046729 1 MACC1 346389 __UNKNOWN__ __UNKNOWN__ 7 20198440 20198440 __UNKNOWN__ Missense_Mutation SNP G G A rs975263 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:20198440G>A ENST00000400331.5 - 5 1852 c.1544C>T c.(1543-1545)tCg>tTg p.S515L MACC1_ENST00000589011.1_Missense_Mutation_p.S515L|MACC1_ENST00000332878.4_Missense_Mutation_p.S515L NM_182762.3 NP_877439.3 Q6ZN28 MACC1_HUMAN metastasis associated in colon cancer 1 515 NA S -> L (in dbSNP:rs975263). {ECO:0000269|PubMed:14702039}. positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1) 39 TGGCAGATTCGAGAGTCTTTT 0.393 NA G||| 2131 0.425519 0.2799 0.3256 5008 , , NA 19058 0.7837 NA 0.2445 False NA ,,, NA NA NA 2504 0.5102 NA NA NA NA 0 G LEU/SER 1276,3130 421.5+/-339.4 186,904,1113 103 111 108 1544 5.1 0 7 dbSNP_86 108 2048,6552 352.5+/-328.7 274,1500,2526 yes missense MACC1 NM_182762.3 145 460,2404,3639 AA,AG,GG 23.814,28.9605,25.5574 benign 515/853 20198440 3324,9682 2203 4300 6503 SO:0001583 missense CCDS5369.1 7p15.3 2008-10-14 ENSG00000183742 ENSG00000183742 346389 30215 protein-coding gene gene with protein product 612646 NA Standard NM_182762 NM_182762 NA Approved 7A5, SH3BP4L uc003sus.4 Q6ZN28 OTTHUMG00000128415 ENST00000400331.5:c.1544C>T chr7.hg19:g.20198440G>A ENSP00000383185:p.Ser515Leu NA A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5 hg19 CCDS5369.1 0.02 21.331611 TTCxAGA COVERED 920 0.42124542124542125 173 0.3516260162601626 107 0.2955801104972376 455 0.7954545454545454 185 0.24406332453825857 G 1.747 -0.490207 0.04322 0.289605 0.23814 ENSG00000183742 ENST00000400331;ENST00000332878 T;T 0.10668 2.85;2.85 5.93 5.05 0.67936 . 0.587313 0.19435 N 0.114325 T 0.00012 0.0000 M 0.72894 2.215 0.80722 P 0.0 B 0.15719 0.014 B 0.08055 0.003 T 0.26985 -1.0087 9 0.08599 T 0.76 -2.993 9.7127 0.40256 0.1959:0.0:0.8041:0.0 rs975263;rs52813696;rs58060920;rs975263 515 Q6ZN28 MACC1_HUMAN L 515 ENSP00000383185:S515L;ENSP00000328410:S515L ENSP00000328410:S515L S - 2 0 MACC1 20164965 0.076000 0.21285 0.010000 0.14722 0.895000 0.52256 2.152000 0.42272 1.510000 0.48803 0.655000 0.94253 TCG NOVEL MACC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250202.5 4 15.31712 KEEP 0 2 60 72 2438 GG 1 1 0 - 28 60 1063 0 0 74.126629 422 60 14877 628 ENST00000400331.5 0.062222 1 MACC1 346389 __UNKNOWN__ __UNKNOWN__ 7 20201395 20201395 __UNKNOWN__ Missense_Mutation SNP G G C rs4721888 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:20201395G>C ENST00000400331.5 - 4 399 c.91C>G c.(91-93)Ctc>Gtc p.L31V MACC1_ENST00000589011.1_Missense_Mutation_p.L31V|MACC1_ENST00000332878.4_Missense_Mutation_p.L31V NM_182762.3 NP_877439.3 Q6ZN28 MACC1_HUMAN metastasis associated in colon cancer 1 31 NA L -> V (in dbSNP:rs4721888). {ECO:0000269|PubMed:14702039}. positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1) 39 CTTTTTGAGAGTTTTCCAGCT 0.333 NA G||| 575 0.114816 0.0053 0.0476 5008 , , NA 16230 0.2917 NA 0.0845 False NA ,,, NA NA NA 2504 0.1595 NA NA NA NA 0 G VAL/LEU 92,4312 74.7+/-112.8 3,86,2113 135 135 135 91 -6.7 0 7 dbSNP_111 135 680,7916 169.4+/-220.8 31,618,3649 yes missense MACC1 NM_182762.3 32 34,704,5762 CC,CG,GG 7.9107,2.089,5.9385 benign 31/853 20201395 772,12228 2202 4298 6500 SO:0001583 missense CCDS5369.1 7p15.3 2008-10-14 ENSG00000183742 ENSG00000183742 346389 30215 protein-coding gene gene with protein product 612646 NA Standard NM_182762 NM_182762 NA Approved 7A5, SH3BP4L uc003sus.4 Q6ZN28 OTTHUMG00000128415 ENST00000400331.5:c.91C>G chr7.hg19:g.20201395G>C ENSP00000383185:p.Leu31Val NA A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5 hg19 CCDS5369.1 0.02 21.207277 AGAxTTT COVERED 239 0.10943223443223443 4 0.008130081300813009 20 0.055248618784530384 149 0.26048951048951047 66 0.0870712401055409 G 0.022 -1.406190 0.01155 0.02089 0.079107 ENSG00000183742 ENST00000400331;ENST00000332878 T;T 0.09255 3.0;3.0 5.51 -6.67 0.01783 . 1.245410 0.05400 N 0.540615 T 0.00012 0.0000 N 0.22421 0.69 0.80722 P 0.0 B 0.20887 0.049 B 0.19666 0.026 T 0.43718 -0.9374 9 0.02654 T 1 4.8931 7.7931 0.29131 0.4927:0.2859:0.2214:0.0 rs4721888;rs4721888 31 Q6ZN28 MACC1_HUMAN V 31 ENSP00000383185:L31V;ENSP00000328410:L31V ENSP00000328410:L31V L - 1 0 MACC1 20167920 0.018000 0.18449 0.000000 0.03702 0.003000 0.03518 -0.088000 0.11198 -1.306000 0.02324 -0.140000 0.14226 CTC NOVEL MACC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250202.5 3 24.078856 KEEP 0 0 0 80 2911 GG 1 1 0 - 15 60 557 0 0 33.055779 529 60 20262 756 ENST00000400331.5 0.027574 1 ABCB5 340273 __UNKNOWN__ __UNKNOWN__ 7 20768013 20768013 __UNKNOWN__ Silent SNP G G A rs10254317 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:20768013G>A ENST00000404938.2 + 23 3454 c.2802G>A c.(2800-2802)gcG>gcA p.A934A ABCB5_ENST00000258738.6_Silent_p.A489A NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 934 ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}. NA antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562) breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 TTGCCTATGCGGCAGGGTTTC 0.423 NA A||| 2985 0.596046 0.789 0.67 5008 , , NA 17944 0.6905 NA 0.4294 False NA ,,, NA NA NA 2504 0.3569 NA NA NA NA 0 A , 3197,1209 421.9+/-339.5 1158,881,164 128 128 128 2802,1467 -1.1 0.1 7 dbSNP_119 128 3592,5008 627.3+/-398.0 744,2104,1452 no coding-synonymous,coding-synonymous ABCB5 NM_001163941.1,NM_178559.5 , 1902,2985,1616 AA,AG,GG 41.7674,27.4399,47.801 , 934/1258,489/813 20768013 6789,6217 2203 4300 6503 SO:0001819 synonymous_variant U66692 CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1 7p14 2012-03-14 ENSG00000004846 ENSG00000004846 340273 ATP binding cassette transporters / subfamily B 46 protein-coding gene gene with protein product P-glycoprotein ABCB5, ATP-binding cassette protein 611785 NA 8894702, 12960149 Standard NM_178559 NM_001163942 NA Approved EST422562, ABCB5beta, ABCB5alpha uc010kuh.3 Q2M3G0 OTTHUMG00000094789 ENST00000404938.2:c.2802G>A chr7.hg19:g.20768013G>A NA A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1 hg19 CCDS55090.1 0.02 17.28032 TGCxGCA COVERED NOVEL ABCB5-004 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000326736.2 0 6.053093 KEEP 0 1 28 30 1015 GG 0.999997 0.999997 0 + 27 60 1041 0 0 75.444496 330 60 11727 492 ENST00000404938.2 0.07563 1 ABCB5 340273 __UNKNOWN__ __UNKNOWN__ 7 20782576 20782576 __UNKNOWN__ Missense_Mutation SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:20782576G>A ENST00000404938.2 + 25 3753 c.3101G>A c.(3100-3102)cGt>cAt p.R1034H ABCB5_ENST00000258738.6_Missense_Mutation_p.R589H NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 1034 ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}. NA antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562) breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 TTCATCCTCCGTGGCTTATCC 0.458 NA NA NA NA NA NA NA NA NA NA NA 0 133 125 128 NA NA 7 NA 20782576 2203 4300 6503 SO:0001583 missense U66692 CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1 7p14 2012-03-14 ENSG00000004846 ENSG00000004846 340273 ATP binding cassette transporters / subfamily B 46 protein-coding gene gene with protein product P-glycoprotein ABCB5, ATP-binding cassette protein 611785 NA 8894702, 12960149 Standard NM_178559 NM_001163942 NA Approved EST422562, ABCB5beta, ABCB5alpha uc010kuh.3 Q2M3G0 OTTHUMG00000094789 ENST00000404938.2:c.3101G>A chr7.hg19:g.20782576G>A ENSP00000384881:p.Arg1034His NA A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1 hg19 CCDS55090.1 0.02 6.631511 TCCxTGG COVERED . . . . . . . . . . G 8.085 0.773309 0.16051 . . ENSG00000004846 ENST00000404938;ENST00000258738 D;D 0.93859 -3.3;-3.3 4.96 -5.46 0.02608 ABC transporter-like (1); 0.768603 0.11418 N 0.566043 T 0.82098 0.4963 N 0.10760 0.04 0.09310 N 1 B;B 0.16166 0.014;0.016 B;B 0.15870 0.009;0.014 T 0.68538 -0.5382 10 0.62326 D 0.03 . 9.4413 0.38670 0.6266:0.0:0.2708:0.1026 . 1034;589 A7BKA4;Q2M3G0 .;ABCB5_HUMAN H 1034;589 ENSP00000384881:R1034H;ENSP00000258738:R589H ENSP00000258738:R589H R + 2 0 ABCB5 20749101 0.000000 0.05858 0.000000 0.03702 0.025000 0.11179 0.042000 0.13949 -0.791000 0.04486 -0.827000 0.03088 CGT NOVEL ABCB5-004 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000326736.2 2 5.716809 KEEP 0 0 0 19 615 GG 0.99986 0.99986 0 + 11 60 370 0 0 24.129176 175 60 5916 236 ENST00000404938.2 0.05914 1 SP8 221833 __UNKNOWN__ __UNKNOWN__ 7 20826452 20826452 __UNKNOWN__ 5'UTR SNP T T G rs34863300 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:20826452T>G ENST00000418710.2 - 0 53 SP8_ENST00000361443.4_5'UTR NM_182700.4 NP_874359.2 Q8IXZ3 SP8_HUMAN Sp8 transcription factor NA NA dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|proximal/distal pattern formation (GO:0009954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 8 CAGAGGATCTTTTTTATATTG 0.423 NA T||| 1404 0.280351 0.0877 0.3876 5008 , , NA 12557 0.3938 NA 0.2962 False NA ,,, NA NA NA 2504 0.3313 NA NA NA NA 0 T , 454,3266 26,402,1432 83 87 85 , 4.2 1 7 dbSNP_126 85 2446,5736 377,1692,2022 no utr-5,utr-5 SP8 NM_182700.4,NM_198956.2 , 403,2094,3454 GG,GT,TT 29.8949,12.2043,24.3657 , , 20826452 2900,9002 1860 4091 5951 SO:0001623 5_prime_UTR_variant CCDS5372.1, CCDS43555.1 7p21.2 2013-01-08 ENSG00000164651 ENSG00000164651 221833 Specificity protein transcription factors, Zinc fingers, C2H2-type 19196 protein-coding gene gene with protein product 608306 NA Standard NM_182700 NA Approved uc003suz.3 Q8IXZ3 OTTHUMG00000094788 ENST00000418710.2:c.-35A>C chr7.hg19:g.20826452T>G NA Q7Z615|Q7Z616|Q96MJ1 hg19 CCDS43555.1 0.02 32.410944 TCTxTTT COVERED NOVEL SP8-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000211602.2 2 27.981721 KEEP 0 0 0 93 2900 TT 1 1 0 - 27 60 1060 0 0 69.861599 637 60 23024 933 ENST00000418710.2 0.040663 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 20863641 20863641 __UNKNOWN__ IGR SNP T T C rs113540516 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:20863641T>C NA NA SP8 (37136 upstream) : AC006481.1 (11408 downstream) NA NA NA tttgtatttttagtagagacg 0.532 NA T||| 734 0.146565 0.1172 0.1988 5008 , , NA 16249 0.13 NA 0.1362 False NA ,,, NA NA NA 2504 0.1769 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.20863641T>C NA hg19 0.02 -0.043855 TTTxAGT UNCOVERED NOVEL 0 5 2.705665 KEEP 1 0 0 9 253 TT 0.99257 0.023895 0 2 60 64 0 0 6.523551 1 60 35 14 0.666667 0.024074 DNAH11 8701 __UNKNOWN__ __UNKNOWN__ 7 21583282 21583282 __UNKNOWN__ Intron SNP T T G rs2285945 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:21583282T>G ENST00000409508.3 + 1 382 DNAH11_ENST00000328843.6_Intron NM_001277115.1 NP_001264044.1 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 NA NA microtubule-based movement (GO:0007018) cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777) NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 GCCCAGTCGCTCCCCTTTGGA 0.652 NA Kartagener syndrome G||| 1792 0.357827 0.4788 0.3112 5008 , , NA 14377 0.624 NA 0.0726 False NA ,,, NA NA NA 2504 0.2464 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome U83569 CCDS64602.1 7p21 2008-07-18 2006-09-04 8701 Axonemal dyneins 2942 protein-coding gene gene with protein product dynein, ciliary, heavy chain 11, dynein, heavy chain beta-like 603339 dynein, axonemal, heavy polypeptide 11 NA 9256245 Standard NM_003777 NM_001277115 NA Approved Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL uc031swp.1 Q96DT5 ENST00000409508.3:c.351+68T>G chr7.hg19:g.21583282T>G NA Q9UJ82 hg19 0.02 4.316273 CGCxCCC COVERED NOVEL DNAH11-001 KNOWN basic|appris_candidate protein_coding NA protein_coding OTTHUMT00000326582.6 0 9.023782 KEEP 0 0 0 30 931 TT 0.999997 0.999996 0 + 8 60 282 0 0 19.2372 113 60 3816 174 ENST00000409508.3 0.066116 0.999999 DNAH11 8701 __UNKNOWN__ __UNKNOWN__ 7 21598500 21598500 __UNKNOWN__ Missense_Mutation SNP A A G rs72655972 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:21598500A>G ENST00000409508.3 + 3 607 c.576A>G c.(574-576)atA>atG p.I192M DNAH11_ENST00000328843.6_Missense_Mutation_p.I192M NM_001277115.1 NP_001264044.1 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 192 Stem. {ECO:0000250}. NA microtubule-based movement (GO:0007018) cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777) NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 AATATCACATAGAAGTCATGA 0.358 NA Kartagener syndrome A||| 189 0.0377396 0.0 0.0576 5008 , , NA 19454 0.0536 NA 0.001 False NA ,,, NA NA NA 2504 0.0961 NA NA NA NA 0 A MET/ILE 11,3635 0,11,1812 51 48 49 576 4.9 1 7 dbSNP_130 49 35,8121 1,33,4044 yes missense DNAH11 NM_003777.3 10 1,44,5856 GG,GA,AA 0.4291,0.3017,0.3898 benign 192/4524 21598500 46,11756 1823 4078 5901 SO:0001583 missense Familial Cancer Database Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome U83569 CCDS64602.1 7p21 2008-07-18 2006-09-04 8701 Axonemal dyneins 2942 protein-coding gene gene with protein product dynein, ciliary, heavy chain 11, dynein, heavy chain beta-like 603339 dynein, axonemal, heavy polypeptide 11 NA 9256245 Standard NM_003777 NM_001277115 NA Approved Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL uc031swp.1 Q96DT5 ENST00000409508.3:c.576A>G chr7.hg19:g.21598500A>G ENSP00000475939:p.Ile192Met NA Q9UJ82 hg19 0.02 4.876196 CATxGAA COVERED 48 0.02197802197802198 0 0.0 15 0.04143646408839779 33 0.057692307692307696 0 0.0 A 14.54 2.565860 0.45694 0.003017 0.004291 ENSG00000105877 ENST00000328843 T 0.23348 1.91 6.02 4.89 0.63831 . 0.568189 0.18844 N 0.129584 T 0.01189 0.0039 N 0.17474 0.49 0.27939 N 0.937592 P 0.39216 0.664 B 0.34180 0.177 T 0.08827 -1.0703 10 0.33141 T 0.24 . 4.078 0.09912 0.7346:0.0:0.2654:0.0 . 192 Q96DT5 DYH11_HUMAN M 192 ENSP00000330671:I192M ENSP00000330671:I192M I + 3 3 DNAH11 21565025 1.000000 0.71417 0.995000 0.50966 0.919000 0.55068 2.290000 0.43531 2.304000 0.77564 0.528000 0.53228 ATA NOVEL DNAH11-001 KNOWN basic|appris_candidate protein_coding NA protein_coding OTTHUMT00000326582.6 2 5.41616 KEEP 0 0 0 18 572 AA 0.999859 0.999859 0 + 5 60 198 0 0 12.697744 143 60 5286 202 ENST00000409508.3 0.033784 1 DNAH11 8701 __UNKNOWN__ __UNKNOWN__ 7 21628197 21628197 __UNKNOWN__ Missense_Mutation SNP A A G rs12670130 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:21628197A>G ENST00000409508.3 + 11 1947 c.1916A>G c.(1915-1917)cAg>cGg p.Q639R DNAH11_ENST00000328843.6_Missense_Mutation_p.Q639R NM_001277115.1 NP_001264044.1 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 639 Stem. {ECO:0000250}. NA Q -> R (in dbSNP:rs12670130). {ECO:0000269|PubMed:12142464}. microtubule-based movement (GO:0007018) cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777) NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 AAATGGGCCCAGCAGGTTCTC 0.388 NA Kartagener syndrome A||| 726 0.144968 0.1225 0.111 5008 , , NA 19204 0.1865 NA 0.1849 False NA ,,, NA NA NA 2504 0.1155 NA NA NA NA 0 A ARG/GLN 469,3263 28,413,1425 121 121 121 1916 0.1 0 7 dbSNP_120 121 1393,6829 115,1163,2833 yes missense DNAH11 NM_003777.3 43 143,1576,4258 GG,GA,AA 16.9423,12.567,15.5764 benign 639/4524 21628197 1862,10092 1866 4111 5977 SO:0001583 missense Familial Cancer Database Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome U83569 CCDS64602.1 7p21 2008-07-18 2006-09-04 8701 Axonemal dyneins 2942 protein-coding gene gene with protein product dynein, ciliary, heavy chain 11, dynein, heavy chain beta-like 603339 dynein, axonemal, heavy polypeptide 11 NA 9256245 Standard NM_003777 NM_001277115 NA Approved Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL uc031swp.1 Q96DT5 ENST00000409508.3:c.1916A>G chr7.hg19:g.21628197A>G ENSP00000475939:p.Gln639Arg NA Q9UJ82 hg19 0.02 16.783103 CCCxGCA COVERED 366 0.16758241758241757 64 0.13008130081300814 48 0.13259668508287292 123 0.21503496503496503 131 0.17282321899736147 A 0.024 -1.385524 0.01194 0.12567 0.169423 ENSG00000105877 ENST00000328843 T 0.50277 0.75 5.75 0.131 0.14755 Dynein heavy chain, domain-1 (1); 0.712440 0.13945 N 0.351947 T 0.00012 0.0000 . . . 0.80722 P 0.0 B 0.02656 0.0 B 0.04013 0.001 T 0.26849 -1.0091 8 0.02654 T 1 . 9.8024 0.40773 0.5574:0.0:0.4426:0.0 rs12670130;rs52825383;rs12670130 639 Q96DT5 DYH11_HUMAN R 639 ENSP00000330671:Q639R ENSP00000330671:Q639R Q + 2 0 DNAH11 21594722 1.000000 0.71417 0.005000 0.12908 0.012000 0.07955 2.237000 0.43061 -0.123000 0.11745 0.528000 0.53228 CAG NOVEL DNAH11-001 KNOWN basic|appris_candidate protein_coding NA protein_coding OTTHUMT00000326582.6 3 10.66618 KEEP 0 1 27 45 1458 AA 1 1 0 + 18 60 622 0 0 38.710408 394 60 14694 548 ENST00000409508.3 0.043689 1 DNAH11 8701 __UNKNOWN__ __UNKNOWN__ 7 21630982 21630982 __UNKNOWN__ Silent SNP A A G rs4615458 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:21630982A>G ENST00000409508.3 + 14 2485 c.2454A>G c.(2452-2454)gcA>gcG p.A818A DNAH11_ENST00000328843.6_Silent_p.A818A NM_001277115.1 NP_001264044.1 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 818 Stem. {ECO:0000250}. NA microtubule-based movement (GO:0007018) cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777) NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 GGGTGAGGGCAGCCACGTCCG 0.587 NA Kartagener syndrome G||| 2656 0.530351 0.5855 0.3977 5008 , , NA 13808 0.749 NA 0.4006 False NA ,,, NA NA NA 2504 0.4581 NA NA NA NA 0 G 2190,2040 570,1050,495 50 54 52 2454 -1.6 0 7 dbSNP_111 52 3326,5136 648,2030,1553 no coding-synonymous DNAH11 NM_003777.3 1218,3080,2048 GG,GA,AA 39.3051,48.227,43.4604 818/4524 21630982 5516,7176 2115 4231 6346 SO:0001819 synonymous_variant Familial Cancer Database Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome U83569 CCDS64602.1 7p21 2008-07-18 2006-09-04 8701 Axonemal dyneins 2942 protein-coding gene gene with protein product dynein, ciliary, heavy chain 11, dynein, heavy chain beta-like 603339 dynein, axonemal, heavy polypeptide 11 NA 9256245 Standard NM_003777 NM_001277115 NA Approved Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL uc031swp.1 Q96DT5 ENST00000409508.3:c.2454A>G chr7.hg19:g.21630982A>G NA Q9UJ82 hg19 0.02 9.755327 GGCxGCC COVERED NOVEL DNAH11-001 KNOWN basic|appris_candidate protein_coding NA protein_coding OTTHUMT00000326582.6 1 6.917466 KEEP 0 1 22 31 925 AA 0.999997 0.999997 0 + 15 60 527 0 0 36.212596 201 60 7283 298 ENST00000409508.3 0.069444 1 DNAH11 8701 __UNKNOWN__ __UNKNOWN__ 7 21677214 21677214 __UNKNOWN__ Intron SNP T T C rs17144822 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:21677214T>C ENST00000409508.3 + 27 4756 DNAH11_ENST00000328843.6_Intron NM_001277115.1 NP_001264044.1 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 NA NA microtubule-based movement (GO:0007018) cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777) NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 GGCCCCGTATTGTACTTTCAT 0.328 NA Kartagener syndrome T||| 149 0.0297524 0.0 0.0187 5008 , , NA 15960 0.0556 NA 0.0 False NA ,,, NA NA NA 2504 0.0818 NA NA NA NA 0 T 7,3649 0,7,1821 56 51 53 4.3 0 7 dbSNP_123 53 12,8146 0,12,4067 no intron DNAH11 NM_003777.3 0,19,5888 CC,CT,TT 0.1471,0.1915,0.1608 21677214 19,11795 1828 4079 5907 SO:0001627 intron_variant Familial Cancer Database Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome U83569 CCDS64602.1 7p21 2008-07-18 2006-09-04 8701 Axonemal dyneins 2942 protein-coding gene gene with protein product dynein, ciliary, heavy chain 11, dynein, heavy chain beta-like 603339 dynein, axonemal, heavy polypeptide 11 NA 9256245 Standard NM_003777 NM_001277115 NA Approved Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL uc031swp.1 Q96DT5 ENST00000409508.3:c.4726-15T>C chr7.hg19:g.21677214T>C NA Q9UJ82 hg19 0.02 15.954509 TATxGTA COVERED NOVEL DNAH11-001 KNOWN basic|appris_candidate protein_coding NA protein_coding OTTHUMT00000326582.6 4 9.62814 KEEP 0 0 0 32 1006 TT 0.999997 0.999997 0 + 17 60 616 0 0 39.51942 366 60 13436 528 ENST00000409508.3 0.044386 1 DNAH11 8701 __UNKNOWN__ __UNKNOWN__ 7 21730575 21730575 __UNKNOWN__ Intron SNP G G A rs72657338 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:21730575G>A ENST00000409508.3 + 35 6072 DNAH11_ENST00000328843.6_Intron NM_001277115.1 NP_001264044.1 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 NA NA microtubule-based movement (GO:0007018) cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777) NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 CTGTTAAGTGGTTTGCTTTTA 0.378 NA Kartagener syndrome A||| 365 0.0728834 0.0424 0.0274 5008 , , NA 15092 0.1905 NA 0.0527 False NA ,,, NA NA NA 2504 0.046 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome U83569 CCDS64602.1 7p21 2008-07-18 2006-09-04 8701 Axonemal dyneins 2942 protein-coding gene gene with protein product dynein, ciliary, heavy chain 11, dynein, heavy chain beta-like 603339 dynein, axonemal, heavy polypeptide 11 NA 9256245 Standard NM_003777 NM_001277115 NA Approved Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL uc031swp.1 Q96DT5 ENST00000409508.3:c.6041+76G>A chr7.hg19:g.21730575G>A NA Q9UJ82 hg19 0.02 10.451376 GTGxTTT COVERED NOVEL DNAH11-001 KNOWN basic|appris_candidate protein_coding NA protein_coding OTTHUMT00000326582.6 0 4.815748 KEEP 0 0 0 16 565 GG 0.997832 0.997832 0 + 8 60 293 0 0 17.596915 253 60 9282 320 ENST00000409508.3 0.030651 1 DNAH11 8701 __UNKNOWN__ __UNKNOWN__ 7 21737768 21737768 __UNKNOWN__ Silent SNP G G A rs78763603 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:21737768G>A ENST00000409508.3 + 36 6148 c.6117G>A c.(6115-6117)gcG>gcA p.A2039A DNAH11_ENST00000328843.6_Silent_p.A2046A NM_001277115.1 NP_001264044.1 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2046 AAA 1. {ECO:0000250}. NA microtubule-based movement (GO:0007018) cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777) NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 TTGTGGATGCGCGTGCATTAG 0.418 NA Kartagener syndrome G||| 189 0.0377396 0.0 0.0 5008 , , NA 17816 0.1726 NA 0.002 False NA ,,, NA NA NA 2504 0.0133 NA NA NA NA 0 G 0,3922 0,0,1961 120 112 115 6139 -10.7 0 7 dbSNP_131 115 3,8323 0,3,4160 yes coding-synonymous DNAH11 NM_003777.3 0,3,6121 AA,AG,GG 0.036,0.0,0.0245 2046/4524 21737768 3,12245 1961 4163 6124 SO:0001819 synonymous_variant Familial Cancer Database Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome U83569 CCDS64602.1 7p21 2008-07-18 2006-09-04 8701 Axonemal dyneins 2942 protein-coding gene gene with protein product dynein, ciliary, heavy chain 11, dynein, heavy chain beta-like 603339 dynein, axonemal, heavy polypeptide 11 NA 9256245 Standard NM_003777 NM_001277115 NA Approved Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL uc031swp.1 Q96DT5 ENST00000409508.3:c.6117G>A chr7.hg19:g.21737768G>A NA Q9UJ82 hg19 0.02 5.906509 TGCxCGT COVERED NOVEL DNAH11-001 KNOWN basic|appris_candidate protein_coding NA protein_coding OTTHUMT00000326582.6 1 9.628587 KEEP 0 0 0 32 1058 GG 0.999997 0.999997 0 + 6 60 218 0 0 13.115174 183 60 6478 275 ENST00000409508.3 0.031746 1 DNAH11 8701 __UNKNOWN__ __UNKNOWN__ 7 21745061 21745061 __UNKNOWN__ Intron SNP A A G rs1023542 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:21745061A>G ENST00000409508.3 + 39 6499 DNAH11_ENST00000328843.6_Intron NM_001277115.1 NP_001264044.1 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 NA NA microtubule-based movement (GO:0007018) cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777) NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 ACCAGCAACCAGCTGTTTGCT 0.473 NA Kartagener syndrome G||| 2976 0.594249 0.9062 0.4669 5008 , , NA 18957 0.751 NA 0.2237 False NA ,,, NA NA NA 2504 0.4826 NA NA NA NA 0 G 2960,848 1161,638,105 62 68 66 -4 0 7 dbSNP_86 66 1646,6616 181,1284,2666 no intron DNAH11 NM_003777.3 1342,1922,2771 GG,GA,AA 19.9225,22.2689,38.1607 21745061 4606,7464 1904 4131 6035 SO:0001627 intron_variant Familial Cancer Database Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome U83569 CCDS64602.1 7p21 2008-07-18 2006-09-04 8701 Axonemal dyneins 2942 protein-coding gene gene with protein product dynein, ciliary, heavy chain 11, dynein, heavy chain beta-like 603339 dynein, axonemal, heavy polypeptide 11 NA 9256245 Standard NM_003777 NM_001277115 NA Approved Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL uc031swp.1 Q96DT5 ENST00000409508.3:c.6469-17A>G chr7.hg19:g.21745061A>G NA Q9UJ82 hg19 0.02 11.413783 ACCxGCT COVERED NOVEL DNAH11-001 KNOWN basic|appris_candidate protein_coding NA protein_coding OTTHUMT00000326582.6 3 4.146584 KEEP 0 1 35 26 802 AA 0.999988 0.999988 0 + 18 60 629 0 0 42.93303 247 60 9237 346 ENST00000409508.3 0.067925 1 DNAH11 8701 __UNKNOWN__ __UNKNOWN__ 7 21765403 21765403 __UNKNOWN__ Intron SNP A A G rs16872872 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:21765403A>G ENST00000409508.3 + 45 7297 DNAH11_ENST00000328843.6_Intron NM_001277115.1 NP_001264044.1 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 NA NA microtubule-based movement (GO:0007018) cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777) NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 TGAGTCTGCAATAAGGATTTC 0.363 NA Kartagener syndrome A||| 247 0.0493211 0.0 0.0 5008 , , NA 18255 0.2192 NA 0.002 False NA ,,, NA NA NA 2504 0.0245 NA NA NA NA 0 A 0,3622 0,0,1811 54 50 51 -7.1 0 7 dbSNP_123 51 2,8144 0,2,4071 no intron DNAH11 NM_003777.3 0,2,5882 GG,GA,AA 0.0246,0.0,0.017 21765403 2,11766 1811 4073 5884 SO:0001627 intron_variant Familial Cancer Database Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome U83569 CCDS64602.1 7p21 2008-07-18 2006-09-04 8701 Axonemal dyneins 2942 protein-coding gene gene with protein product dynein, ciliary, heavy chain 11, dynein, heavy chain beta-like 603339 dynein, axonemal, heavy polypeptide 11 NA 9256245 Standard NM_003777 NM_001277115 NA Approved Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL uc031swp.1 Q96DT5 ENST00000409508.3:c.7267-26A>G chr7.hg19:g.21765403A>G NA Q9UJ82 hg19 0.02 9.237041 GCAxTAA COVERED NOVEL DNAH11-001 KNOWN basic|appris_candidate protein_coding NA protein_coding OTTHUMT00000326582.6 2 5.116131 KEEP 0 0 0 17 559 AA 0.999366 0.999366 0 + 7 60 276 0 0 17.204565 233 60 8245 280 ENST00000409508.3 0.029167 1 DNAH11 8701 __UNKNOWN__ __UNKNOWN__ 7 21939032 21939032 __UNKNOWN__ Silent SNP C C A rs56333627 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:21939032C>A ENST00000409508.3 + 80 13159 c.13128C>A c.(13126-13128)ctC>ctA p.L4376L DNAH11_ENST00000328843.6_Silent_p.L4383L NM_001277115.1 NP_001264044.1 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 4383 NA microtubule-based movement (GO:0007018) cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777) p.L4383L(1) NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 TCGTGTGGCTCTCCGGCTTCT 0.557 NA Kartagener syndrome C||| 969 0.19349 0.0696 0.2795 5008 , , NA 20130 0.1558 NA 0.3241 False NA ,,, NA NA NA 2504 0.2045 NA NA NA NA 1 Substitution - coding silent(1) prostate(1) C 431,3513 20,391,1561 179 179 179 13150 -8.1 0.2 7 dbSNP_129 179 2682,5626 436,1810,1908 yes coding-synonymous DNAH11 NM_003777.3 456,2201,3469 AA,AC,CC 32.2821,10.928,25.4081 4383/4524 21939032 3113,9139 1972 4154 6126 SO:0001819 synonymous_variant Familial Cancer Database Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome U83569 CCDS64602.1 7p21 2008-07-18 2006-09-04 8701 Axonemal dyneins 2942 protein-coding gene gene with protein product dynein, ciliary, heavy chain 11, dynein, heavy chain beta-like 603339 dynein, axonemal, heavy polypeptide 11 NA 9256245 Standard NM_003777 NM_001277115 NA Approved Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL uc031swp.1 Q96DT5 ENST00000409508.3:c.13128C>A chr7.hg19:g.21939032C>A NA Q9UJ82 hg19 0.02 8.548285 GCTxTCC COVERED NOVEL DNAH11-001 KNOWN basic|appris_candidate protein_coding NA protein_coding OTTHUMT00000326582.6 0 6.958013 KEEP 0 1 34 35 1237 CC 0.999999 0.999999 0 + 8 60 299 0 0 18.846187 209 60 8011 321 ENST00000409508.3 0.036866 1 CDCA7L 55536 __UNKNOWN__ __UNKNOWN__ 7 21940960 21940960 __UNKNOWN__ 3'UTR SNP A A G rs7971 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:21940960A>G ENST00000406877.3 - 0 2624 DNAH11_ENST00000328843.6_3'UTR|CDCA7L_ENST00000356195.5_3'UTR|DNAH11_ENST00000409508.3_3'UTR NM_018719.4 NP_061189.2 Q96GN5 CDA7L_HUMAN cell division cycle associated 7-like NA NA positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634) NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1) 29 ACATTATTCTAACTTTTTAGT 0.428 NA A||| 1079 0.215455 0.0885 0.2997 5008 , , NA 21676 0.1677 NA 0.3569 False NA ,,, NA NA NA 2504 0.2311 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS5374.1, CCDS47558.1, CCDS47559.1 7p15.3 2007-04-27 ENSG00000164649 ENSG00000164649 55536 30777 protein-coding gene gene with protein product 609685 NA 16829576 Standard NM_018719 NM_018719 NA Approved RAM2, R1, JPO2 uc010kuk.3 Q96GN5 OTTHUMG00000128429 ENST00000406877.3:c.*980T>C chr7.hg19:g.21940960A>G NA A4D141|A6NF50|B3KTR5|B4DUT3|C9K0Y1|Q6PIL4|Q86YT0|Q8IXN5|Q96C70|Q9H9A2|Q9NPV2 hg19 CCDS5374.1 0.02 15.693022 TCTxACT COVERED NOVEL CDCA7L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250218.4 4 7.29114 KEEP 0 2 68 48 1491 AA 1 1 0 - 21 60 807 1 0 55.212997 369 60 13270 514 ENST00000406877.3 0.053846 1 CDCA7L 55536 __UNKNOWN__ __UNKNOWN__ 7 21941669 21941669 __UNKNOWN__ 3'UTR SNP A A C rs1128226 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:21941669A>C ENST00000406877.3 - 0 1915 CDCA7L_ENST00000373934.4_3'UTR|CDCA7L_ENST00000356195.5_3'UTR NM_018719.4 NP_061189.2 Q96GN5 CDA7L_HUMAN cell division cycle associated 7-like NA NA positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634) NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1) 29 CACCCCATTTAAACTGTGCTT 0.383 NA A||| 1378 0.27516 0.2655 0.3141 5008 , , NA 17790 0.1825 NA 0.3887 False NA ,,, NA NA NA 2504 0.2393 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS5374.1, CCDS47558.1, CCDS47559.1 7p15.3 2007-04-27 ENSG00000164649 ENSG00000164649 55536 30777 protein-coding gene gene with protein product 609685 NA 16829576 Standard NM_018719 NM_018719 NA Approved RAM2, R1, JPO2 uc010kuk.3 Q96GN5 OTTHUMG00000128429 ENST00000406877.3:c.*271T>G chr7.hg19:g.21941669A>C NA A4D141|A6NF50|B3KTR5|B4DUT3|C9K0Y1|Q6PIL4|Q86YT0|Q8IXN5|Q96C70|Q9H9A2|Q9NPV2 hg19 CCDS5374.1 0.02 9.469442 TTTxAAC COVERED NOVEL CDCA7L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250218.4 1 10.530948 KEEP 0 0 0 35 1072 AA 0.999999 0.999999 0 - 8 60 302 0 0 19.400013 194 70 7009 280 ENST00000406877.3 0.039604 1 CDCA7L 55536 __UNKNOWN__ __UNKNOWN__ 7 21946208 21946208 __UNKNOWN__ Missense_Mutation SNP A A G rs200458641 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:21946208A>G ENST00000406877.3 - 5 1010 c.731T>C c.(730-732)gTa>gCa p.V244A CDCA7L_ENST00000373934.4_Missense_Mutation_p.V198A|CDCA7L_ENST00000356195.5_Missense_Mutation_p.V210A|CDCA7L_ENST00000465490.1_5'UTR NM_018719.4 NP_061189.2 Q96GN5 CDA7L_HUMAN cell division cycle associated 7-like 244 NA positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634) p.V244A(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1) 29 TGGGGTTCGTACTGGGAAGAA 0.418 NA A||| 20 0.00399361 0.0 0.0 5008 , , NA 18581 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0194 NA NA NA NA 1 Substitution - Missense(1) prostate(1) 101 105 104 NA NA 7 NA 21946208 2203 4300 6503 SO:0001583 missense CCDS5374.1, CCDS47558.1, CCDS47559.1 7p15.3 2007-04-27 ENSG00000164649 ENSG00000164649 55536 30777 protein-coding gene gene with protein product 609685 NA 16829576 Standard NM_018719 NM_018719 NA Approved RAM2, R1, JPO2 uc010kuk.3 Q96GN5 OTTHUMG00000128429 ENST00000406877.3:c.731T>C chr7.hg19:g.21946208A>G ENSP00000383986:p.Val244Ala NA A4D141|A6NF50|B3KTR5|B4DUT3|C9K0Y1|Q6PIL4|Q86YT0|Q8IXN5|Q96C70|Q9H9A2|Q9NPV2 hg19 CCDS5374.1 0.02 2.29435 CGTxCTG COVERED . . . . . . . . . . A 10.18 1.280257 0.23392 . . ENSG00000164649 ENST00000356195;ENST00000406877;ENST00000373934 T;T;T 0.43294 0.95;0.95;0.97 5.82 4.64 0.57946 . 0.279448 0.34507 N 0.003902 T 0.57475 0.2056 M 0.65975 2.015 0.18873 N 0.999987 D;D;D;D 0.71674 0.997;0.984;0.997;0.998 D;P;P;D 0.68943 0.914;0.704;0.907;0.961 T 0.50833 -0.8781 10 0.27082 T 0.32 -19.9725 11.0195 0.47709 0.9232:0.0:0.0768:0.0 . 244;198;244;243 A8K8X5;C9K0Y1;Q96GN5;Q96GN5-2 .;.;CDA7L_HUMAN;. A 210;244;198 ENSP00000348523:V210A;ENSP00000383986:V244A;ENSP00000363045:V198A ENSP00000348523:V210A V - 2 0 CDCA7L 21912733 0.733000 0.28132 0.012000 0.15200 0.974000 0.67602 3.613000 0.54152 1.001000 0.39076 -0.408000 0.06270 GTA NOVEL CDCA7L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250218.4 1 4.813186 KEEP 0 0 0 16 480 AA 0.997832 0.996943 0 - 5 60 194 0 0 13.692768 74 60 2605 111 ENST00000406877.3 0.063291 0.99911 RAPGEF5 9771 __UNKNOWN__ __UNKNOWN__ 7 22160279 22160279 __UNKNOWN__ 3'UTR SNP C C T rs17146277 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:22160279C>T ENST00000401957.2 - 0 3735 RAPGEF5_ENST00000344041.6_3'UTR Q92565 RPGF5_HUMAN Rap guanine nucleotide exchange factor (GEF) 5 NA NA nervous system development (GO:0007399)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264) nucleus (GO:0005634) GTP-dependent protein binding (GO:0030742)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088) central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1) 6 CATTCCATGACGGCAGCATGC 0.542 NA C||| 234 0.0467252 0.0008 0.0 5008 , , NA 20909 0.2073 NA 0.0 False NA ,,, NA NA NA 2504 0.0245 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D87467 CCDS55093.1 7p15.3 2004-03-01 ENSG00000136237 ENSG00000136237 9771 16862 protein-coding gene gene with protein product M-Ras-regulated GEF 609527 NA 9039502, 10486569 Standard NM_012294 NM_012294 NA Approved KIAA0277, GFR, MR-GEF uc003svg.3 Q92565 OTTHUMG00000152525 ENST00000401957.2:c.*1745G>A chr7.hg19:g.22160279C>T NA A4D140|Q8IXU5 hg19 0.02 4.387747 TGAxGGC COVERED NOVEL RAPGEF5-001 KNOWN basic protein_coding NA protein_coding OTTHUMT00000326590.2 1 4.213515 KEEP 0 0 0 14 479 CC 0.995343 0.995343 0 - 8 60 301 0 0 20.458749 138 60 4757 175 ENST00000401957.2 0.054795 1 RAPGEF5 9771 __UNKNOWN__ __UNKNOWN__ 7 22259670 22259670 __UNKNOWN__ Intron SNP C C A rs1859807 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:22259670C>A ENST00000405243.1 - 9 954 RAPGEF5_ENST00000475788.1_Intron|RAPGEF5_ENST00000344041.6_Intron Q92565 RPGF5_HUMAN Rap guanine nucleotide exchange factor (GEF) 5 NA NA nervous system development (GO:0007399)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264) nucleus (GO:0005634) GTP-dependent protein binding (GO:0030742)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088) central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1) 6 GACATGACACCACCGCAAAGT 0.398 NA C||| 764 0.152556 0.0151 0.3141 5008 , , NA 18416 0.0724 NA 0.3042 False NA ,,, NA NA NA 2504 0.1503 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D87467 CCDS55093.1 7p15.3 2004-03-01 ENSG00000136237 ENSG00000136237 9771 16862 protein-coding gene gene with protein product M-Ras-regulated GEF 609527 NA 9039502, 10486569 Standard NM_012294 NM_012294 NA Approved KIAA0277, GFR, MR-GEF uc003svg.3 Q92565 OTTHUMG00000152525 ENST00000405243.1:c.871-60G>T chr7.hg19:g.22259670C>A NA A4D140|Q8IXU5 hg19 0.02 18.578796 CACxACC COVERED NOVEL RAPGEF5-002 PUTATIVE basic protein_coding NA protein_coding OTTHUMT00000326591.1 2 38.761815 KEEP 0 1 32 140 5025 CC 1 1 0 - 18 60 601 0 0 35.467791 474 60 17718 803 ENST00000405243.1 0.036585 1 STEAP1B 256227 __UNKNOWN__ __UNKNOWN__ 7 22459324 22459324 __UNKNOWN__ 3'UTR SNP G G A rs2177142 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:22459324G>A ENST00000406890.2 - 0 931 NM_207342.2 NP_997225.1 Q6NZ63 STEAL_HUMAN STEAP family member 1B NA NA integral component of membrane (GO:0016021) endometrium(1)|kidney(1)|lung(2) 4 gttcattgtggcagagggaaa 0.547 NA G||| 2439 0.487021 0.472 0.3991 5008 , , NA 20094 0.5764 NA 0.4712 False NA ,,, NA NA NA 2504 0.4939 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS55094.1, CCDS56469.1 7p15.3 2011-05-19 ENSG00000105889 ENSG00000105889 256227 41907 protein-coding gene gene with protein product NA Standard NM_207342 NA Approved uc010kum.2 Q6NZ63 OTTHUMG00000152529 ENST00000406890.2:c.*99C>T chr7.hg19:g.22459324G>A NA B5MCI2 hg19 CCDS55094.1 0.02 12.470635 GTGxCAG COVERED NOVEL STEAP1B-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000326617.2 1 5.718288 KEEP 0 0 0 19 657 GG 0.99986 0.99986 0 - 16 60 543 0 0 34.498858 310 60 11305 388 ENST00000406890.2 0.04908 1 STEAP1B 256227 __UNKNOWN__ __UNKNOWN__ 7 22477970 22477970 __UNKNOWN__ Intron SNP T T C rs2528842 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:22477970T>C ENST00000406890.2 - 5 800 NM_207342.2 NP_997225.1 Q6NZ63 STEAL_HUMAN STEAP family member 1B NA NA integral component of membrane (GO:0016021) endometrium(1)|kidney(1)|lung(2) 4 tacataatactgttagtgaag 0.383 NA T||| 2465 0.492212 0.4705 0.4035 5008 , , NA 21748 0.6091 NA 0.4712 False NA ,,, NA NA NA 2504 0.4857 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS55094.1, CCDS56469.1 7p15.3 2011-05-19 ENSG00000105889 ENSG00000105889 256227 41907 protein-coding gene gene with protein product NA Standard NM_207342 NA Approved uc010kum.2 Q6NZ63 OTTHUMG00000152529 ENST00000406890.2:c.706-18515A>G chr7.hg19:g.22477970T>C NA B5MCI2 hg19 CCDS55094.1 0.02 10.438904 TACxGTT COVERED NOVEL STEAP1B-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000326617.2 1 5.113753 KEEP 0 0 0 17 506 TT 0.999366 0.999366 0 - 17 60 604 1 0 41.515865 234 60 8632 282 ENST00000406890.2 0.067729 1 STEAP1B 256227 __UNKNOWN__ __UNKNOWN__ 7 22478207 22478207 __UNKNOWN__ Silent SNP G G T rs2528843 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:22478207G>T ENST00000404369.4 - 5 1345 c.930C>A c.(928-930)gcC>gcA p.A310A STEAP1B_ENST00000406890.2_Intron NM_001164460.1 NP_001157932.1 Q6NZ63 STEAL_HUMAN STEAP family member 1B 0 NA integral component of membrane (GO:0016021) endometrium(1)|kidney(1)|lung(2) 4 ttgaagggctggctgctgata 0.398 NA T||| 2614 0.521965 0.5832 0.4135 5008 , , NA 20390 0.6071 NA 0.4702 False NA ,,, NA NA NA 2504 0.4816 NA NA NA NA 0 T , 764,620 218,328,146 155 139 144 930, 0.6 0 7 dbSNP_100 144 1397,1785 302,793,496 no coding-synonymous,intron STEAP1B NM_001164460.1,NM_207342.2 , 520,1121,642 TT,TG,GG 43.9032,44.7977,47.3281 , 310/343, 22478207 2161,2405 692 1591 2283 SO:0001819 synonymous_variant CCDS55094.1, CCDS56469.1 7p15.3 2011-05-19 ENSG00000105889 ENSG00000105889 256227 41907 protein-coding gene gene with protein product NA Standard NM_207342 NA Approved uc010kum.2 Q6NZ63 OTTHUMG00000152529 ENST00000404369.4:c.930C>A chr7.hg19:g.22478207G>T NA B5MCI2 hg19 CCDS56469.1 0.02 15.043582 GCTxGCT COVERED NOVEL STEAP1B-003 PUTATIVE basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000326618.2 2 10.835269 KEEP 0 0 0 36 1275 GG 0.999999 0.999999 0 - 29 60 1032 0 0 72.859321 344 60 12841 469 ENST00000404369.4 0.077748 1 AC005682.5 0 __UNKNOWN__ __UNKNOWN__ 7 22896363 22896363 __UNKNOWN__ RNA SNP G G C rs1608552 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:22896363G>C ENST00000415611.3 + 0 138 NA NA NA TTAAAATTACGCTTTTGGTAA 0.363 NA G||| 2122 0.423722 0.5983 0.3156 5008 , , NA 15950 0.5913 NA 0.2137 False NA ,,, NA NA NA 2504 0.3078 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000415611.3: chr7.hg19:g.22896363G>C NA hg19 0.02 8.99458 TACxCTT COVERED NOVEL AC005682.5-001 KNOWN basic lincRNA NA processed_transcript OTTHUMT00000326767.3 1 14.68058 KEEP 0 1 23 57 1998 GG 1 1 0 + 15 60 529 0 0 36.789357 195 70 7039 327 ENST00000415611.3 0.071429 1 FAM126A 84668 __UNKNOWN__ __UNKNOWN__ 7 22981528 22981528 __UNKNOWN__ 3'UTR SNP T T C rs3815348 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:22981528T>C ENST00000432176.2 - 0 5478 NM_032581.3 NP_115970.2 Q9BYI3 HYCCI_HUMAN family with sequence similarity 126, member A NA NA signal transduction (GO:0007165) cytoplasm (GO:0005737)|plasma membrane (GO:0005886) signal transducer activity (GO:0004871) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2) 23 TCTACAATGCTTAAAGTACCC 0.264 NA T||| 2141 0.427516 0.3918 0.3545 5008 , , NA 15883 0.5139 NA 0.4076 False NA ,,, NA NA NA 2504 0.4591 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC018710 CCDS5377.1 7p15.3 2008-10-02 ENSG00000122591 ENSG00000122591 84668 24587 protein-coding gene gene with protein product down regulated by Ctnnb1, a 610531 NA 10910037, 16951682 Standard NM_032581 NM_032581 NA Approved DRCTNNB1A, HCC, HYCC1, hyccin uc003svm.4 Q9BYI3 OTTHUMG00000128435 ENST00000432176.2:c.*3680A>G chr7.hg19:g.22981528T>C NA A4D145|Q6N010|Q75MR4|Q7LDZ4|Q96MX1|Q96NQ6 hg19 CCDS5377.1 0.02 21.353936 TGCxTAA COVERED NOVEL FAM126A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250230.1 5 14.682522 KEEP 0 1 38 62 2055 TT 1 1 0 - 23 60 876 0 0 58.201301 471 60 17211 642 ENST00000432176.2 0.046559 1 FAM126A 84668 __UNKNOWN__ __UNKNOWN__ 7 22983854 22983854 __UNKNOWN__ 3'UTR SNP T T C rs4599713|rs548120755 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:22983854T>C ENST00000432176.2 - 0 3152 NM_032581.3 NP_115970.2 Q9BYI3 HYCCI_HUMAN family with sequence similarity 126, member A NA NA signal transduction (GO:0007165) cytoplasm (GO:0005737)|plasma membrane (GO:0005886) signal transducer activity (GO:0004871) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2) 23 TCAGCCGTGCTTTCTCTCTCT 0.473 NA T||| 530 0.105831 0.0265 0.1037 5008 , , NA 19757 0.2192 NA 0.0984 False NA ,,, NA NA NA 2504 0.1053 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC018710 CCDS5377.1 7p15.3 2008-10-02 ENSG00000122591 ENSG00000122591 84668 24587 protein-coding gene gene with protein product down regulated by Ctnnb1, a 610531 NA 10910037, 16951682 Standard NM_032581 NM_032581 NA Approved DRCTNNB1A, HCC, HYCC1, hyccin uc003svm.4 Q9BYI3 OTTHUMG00000128435 ENST00000432176.2:c.*1354A>G chr7.hg19:g.22983854T>C NA A4D145|Q6N010|Q75MR4|Q7LDZ4|Q96MX1|Q96NQ6 hg19 CCDS5377.1 0.02 9.868994 TGCxTTC COVERED NOVEL FAM126A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250230.1 0 13.521543 KEEP 0 0 0 45 1428 TT 1 1 0 - 7 60 274 0 0 17.520319 196 60 7234 304 ENST00000432176.2 0.034483 1 FAM126A 84668 __UNKNOWN__ __UNKNOWN__ 7 22983890 22983890 __UNKNOWN__ 3'UTR SNP T T C rs1583511 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:22983890T>C ENST00000432176.2 - 0 3116 NM_032581.3 NP_115970.2 Q9BYI3 HYCCI_HUMAN family with sequence similarity 126, member A NA NA signal transduction (GO:0007165) cytoplasm (GO:0005737)|plasma membrane (GO:0005886) signal transducer activity (GO:0004871) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2) 23 CTTAAGTACATTTGCTTTACA 0.453 NA C||| 3366 0.672125 0.6339 0.6816 5008 , , NA 19069 0.631 NA 0.7237 False NA ,,, NA NA NA 2504 0.7065 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC018710 CCDS5377.1 7p15.3 2008-10-02 ENSG00000122591 ENSG00000122591 84668 24587 protein-coding gene gene with protein product down regulated by Ctnnb1, a 610531 NA 10910037, 16951682 Standard NM_032581 NM_032581 NA Approved DRCTNNB1A, HCC, HYCC1, hyccin uc003svm.4 Q9BYI3 OTTHUMG00000128435 ENST00000432176.2:c.*1318A>G chr7.hg19:g.22983890T>C NA A4D145|Q6N010|Q75MR4|Q7LDZ4|Q96MX1|Q96NQ6 hg19 CCDS5377.1 0.02 8.770604 ACAxTTG COVERED NOVEL FAM126A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250230.1 0 14.10657 KEEP 0 0 0 47 1442 TT 1 1 0 - 13 60 478 0 0 33.0312 190 60 6932 294 ENST00000432176.2 0.064039 1 FAM126A 84668 __UNKNOWN__ __UNKNOWN__ 7 23015831 23015831 __UNKNOWN__ Silent SNP T T C rs3735231 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:23015831T>C ENST00000432176.2 - 7 856 c.624A>G c.(622-624)tcA>tcG p.S208S FAM126A_ENST00000409923.1_Silent_p.S208S NM_032581.3 NP_115970.2 Q9BYI3 HYCCI_HUMAN family with sequence similarity 126, member A 208 NA signal transduction (GO:0007165) cytoplasm (GO:0005737)|plasma membrane (GO:0005886) signal transducer activity (GO:0004871) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2) 23 TACTTTACCTTGAACAAATTT 0.318 NA T||| 1877 0.3748 0.3578 0.33 5008 , , NA 18391 0.4663 NA 0.3628 False NA ,,, NA NA NA 2504 0.3476 NA NA NA NA 0 T 1514,2892 479.2+/-358.4 276,962,965 86 84 85 http://www.ncbi.nlm.nih.gov/sites/varvu?gene 624 5.5 1 7 dbSNP_107 85 2966,5632 460.2+/-365.1 518,1930,1851 no coding-synonymous FAM126A NM_032581.3 794,2892,2816 CC,CT,TT 34.4964,34.3622,34.4509 208/522 23015831 4480,8524 2203 4299 6502 SO:0001819 synonymous_variant BC018710 CCDS5377.1 7p15.3 2008-10-02 ENSG00000122591 ENSG00000122591 84668 24587 protein-coding gene gene with protein product down regulated by Ctnnb1, a 610531 NA 10910037, 16951682 Standard NM_032581 NM_032581 NA Approved DRCTNNB1A, HCC, HYCC1, hyccin uc003svm.4 Q9BYI3 OTTHUMG00000128435 ENST00000432176.2:c.624A>G chr7.hg19:g.23015831T>C NA A4D145|Q6N010|Q75MR4|Q7LDZ4|Q96MX1|Q96NQ6 hg19 CCDS5377.1 0.02 4.193685 CCTxGAA COVERED 823 0.3768315018315018 154 0.3130081300813008 130 0.35911602209944754 269 0.47027972027972026 270 0.3562005277044855 T 12.31 1.900832 0.33535 0.343622 0.344964 ENSG00000122591 ENST00000440481 . . . 5.49 5.49 0.81192 . . . . . T 0.00012 0.0000 . . . 0.09310 P 1.0 . . . . . . T 0.43653 -0.9378 3 . . . -16.156 15.587 0.76491 0.0:0.0:0.0:1.0 rs3735231;rs10368120;rs17147509;rs58350469;rs3735231 . . . R 260 . . Q - 2 0 FAM126A 22982356 1.000000 0.71417 1.000000 0.80357 0.705000 0.40729 1.643000 0.37217 2.092000 0.63282 0.374000 0.22700 CAA NOVEL FAM126A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250230.1 1 7.219709 KEEP 0 0 0 24 711 TT 0.999909 0.999904 0 - 9 60 328 0 0 23.496445 103 60 3764 166 ENST00000432176.2 0.080357 0.999995 GPNMB 10457 __UNKNOWN__ __UNKNOWN__ 7 23297588 23297588 __UNKNOWN__ Intron SNP T T A rs1783 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:23297588T>A ENST00000381990.2 + 4 702 GPNMB_ENST00000539136.1_Intron|GPNMB_ENST00000258733.4_Intron|GPNMB_ENST00000453162.2_Intron|GPNMB_ENST00000409458.3_3'UTR NM_001005340.1|NM_002510.2 NP_001005340.1|NP_002501.1 Q14956 GPNMB_HUMAN glycoprotein (transmembrane) nmb NA NA bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|negative regulation of cell proliferation (GO:0008285)|osteoblast differentiation (GO:0001649) cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887) heparin binding (GO:0008201) breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2) 41 GBM - Glioblastoma multiforme(13;0.154) ATGATTTTTTTAATTTTTATA 0.264 NA A||| 289 0.0577077 0.0923 0.0533 5008 , , NA 15882 0.0089 NA 0.0348 False NA ,,, NA NA NA 2504 0.0879 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X76534 CCDS5380.1, CCDS34610.1 7p 2008-07-18 ENSG00000136235 ENSG00000136235 10457 4462 protein-coding gene gene with protein product transmembrane glycoprotein, glycoprotein NMB, glycoprotein nmb-like protein, osteoactivin 604368 NA 7814155 Standard NM_001005340 NM_002510 NA Approved NMB, HGFIN uc003swc.3 Q14956 OTTHUMG00000022811 ENST00000381990.2:c.541+904T>A chr7.hg19:g.23297588T>A NA A4D155|Q6UVX1|Q8N1A1 hg19 CCDS34610.1 0.02 2.21193 TTTxAAT COVERED NOVEL GPNMB-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000327152.1 0 2.406818 KEEP 0 0 0 8 241 TT 0.99257 0.991446 0 + 35 60 1266 0 0 120.257143 42 60 1509 97 ENST00000381990.2 0.454545 0.998867 IGF2BP3 10643 __UNKNOWN__ __UNKNOWN__ 7 23357321 23357321 __UNKNOWN__ Silent SNP C C T rs156414 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:23357321C>T ENST00000258729.3 - 12 1688 c.1332G>A c.(1330-1332)gcG>gcA p.A444A NM_006547.2 NP_006538.2 O00425 IF2B3_HUMAN insulin-like growth factor 2 mRNA binding protein 3 444 KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}. NA anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|translation (GO:0006412) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634) mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation regulator activity (GO:0045182) p.A444A(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1) 34 CTGGTGCTTCCGCTGGAGCAA 0.463 NA C||| 1225 0.244609 0.0136 0.2435 5008 , , NA 20362 0.3671 NA 0.3946 False NA ,,, NA NA NA 2504 0.2771 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) C 364,4042 37,290,1876 203 158 173 1332 -4.7 1 7 dbSNP_79 173 3525,5075 727,2071,1502 no coding-synonymous IGF2BP3 NM_006547.2 764,2361,3378 TT,TC,CC 40.9884,8.2615,29.9016 444/580 23357321 3889,9117 2203 4300 6503 SO:0001819 synonymous_variant AF117108 CCDS5382.1 7p15.3 2014-02-19 ENSG00000136231 ENSG00000136231 10643 RNA binding motif (RRM) containing 28868 protein-coding gene gene with protein product IGF II mRNA binding protein 3, cancer/testis antigen 98 608259 NA 9891060, 9178771 Standard NM_006547 NM_006547 NA Approved IMP-3, CT98, IMP3 uc003swg.3 O00425 OTTHUMG00000128445 ENST00000258729.3:c.1332G>A chr7.hg19:g.23357321C>T NA A0A4Z5|Q63HM0|Q6MZZ2|Q86VB1 hg19 CCDS5382.1 0.02 4.801237 TTCxGCT COVERED NOVEL IGF2BP3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250243.2 0 8.126168 KEEP 0 0 0 27 930 CC 0.999988 0.999981 0 - 10 60 367 0 0 26.889318 101 60 3452 168 ENST00000258729.3 0.09009 0.999994 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 23625855 23625855 __UNKNOWN__ IGR SNP C C T rs77759499 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:23625855C>T NA NA TRA2A (54195 upstream) : CCDC126 (11142 downstream) NA NA NA CCGTCGTGTCCGGTCACTACT 0.597 NA C||| 174 0.0347444 0.0008 0.0 5008 , , NA 17430 0.1647 NA 0.0 False NA ,,, NA NA NA 2504 0.0072 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.23625855C>T NA hg19 0.02 2.250983 GTCxGGT COVERED NOVEL 0 1 6.320147 KEEP 0 0 0 21 717 CC 0.999869 0.999428 0 4 60 153 0 0 10.227746 80 60 2797 117 0.047619 0.999559 STK31 56164 __UNKNOWN__ __UNKNOWN__ 7 23794029 23794029 __UNKNOWN__ Missense_Mutation SNP G G A rs4722266 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:23794029G>A ENST00000355870.3 + 10 1348 c.1229G>A c.(1228-1230)gGa>gAa p.G410E STK31_ENST00000354639.3_Missense_Mutation_p.G387E|STK31_ENST00000428484.1_Missense_Mutation_p.G387E|STK31_ENST00000433467.2_Missense_Mutation_p.G410E|STK31_ENST00000405627.3_3'UTR NM_031414.4 NP_113602.2 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 410 NA G -> E (in dbSNP:rs4722266). {ECO:0000269|PubMed:17344846}. acrosomal vesicle (GO:0001669) ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 TCTTTGAATGGATTAGAGATA 0.388 NA G||| 1096 0.21885 0.1982 0.3112 5008 , , NA 16388 0.2073 NA 0.1342 False NA ,,, NA NA NA 2504 0.2802 NA NA NA NA 0 G GLU/GLY,GLU/GLY,GLU/GLY 879,3527 342.5+/-307.2 95,689,1419 169 170 170 1160,1229,1160 3.4 1 7 dbSNP_111 170 1218,7382 245.1+/-274.1 84,1050,3166 yes missense,missense,missense STK31 NM_001122833.1,NM_031414.3,NM_032944.2 98,98,98 179,1739,4585 AA,AG,GG 14.1628,19.9501,16.1233 benign,benign,benign 387/997,410/1020,387/997 23794029 2097,10909 2203 4300 6503 SO:0001583 missense AF285599 CCDS5386.1, CCDS43556.1, CCDS59049.1 7p15.3 2014-04-23 ENSG00000196335 ENSG00000196335 56164 Tudor domain containing 11407 protein-coding gene gene with protein product 605790 NA 11279525 Standard NM_031414 NM_031414 NA Approved TDRD8, SgK396 uc003sws.5 Q9BXU1 OTTHUMG00000023053 ENST00000355870.3:c.1229G>A chr7.hg19:g.23794029G>A ENSP00000348132:p.Gly410Glu NA B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8 hg19 CCDS5386.1 0.02 14.225713 ATGxATT COVERED 432 0.1978021978021978 106 0.21544715447154472 103 0.2845303867403315 125 0.21853146853146854 98 0.12928759894459102 G 1.635 -0.518037 0.04171 0.199501 0.141628 ENSG00000196335 ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484 T;T;T;T 0.12255 2.7;2.7;2.7;2.7 5.76 3.36 0.38483 . 0.639291 0.16334 N 0.218991 T 0.00012 0.0000 N 0.00677 -1.265 0.45108 P 0.0018799999999999928 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.45381 -0.9265 9 0.02654 T 1 -3.9124 6.2179 0.20665 0.754:0.1611:0.0849:0.0 rs4722266;rs17148339;rs52807853;rs58668439;rs4722266 410;410 B4DZ06;Q9BXU1 .;STK31_HUMAN E 410;410;387;387 ENSP00000348132:G410E;ENSP00000411852:G410E;ENSP00000346660:G387E;ENSP00000406146:G387E ENSP00000346660:G387E G + 2 0 STK31 23760554 0.993000 0.37304 1.000000 0.80357 0.776000 0.43924 2.818000 0.48041 0.435000 0.26365 -0.482000 0.04802 GGA NOVEL STK31-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000214036.2 3 8.360586 KEEP 0 1 23 36 1260 GG 1 1 0 + 11 60 404 1 0 23.806343 387 60 14533 526 ENST00000355870.3 0.027638 1 DFNA5 1687 __UNKNOWN__ __UNKNOWN__ 7 24738164 24738164 __UNKNOWN__ 3'UTR SNP C C G rs12979 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:24738164C>G ENST00000342947.3 - 0 2397 DFNA5_ENST00000419307.1_3'UTR|DFNA5_ENST00000409970.1_3'UTR|DFNA5_ENST00000545231.1_3'UTR NM_004403.2 NP_004394.1 O60443 DFNA5_HUMAN deafness, autosomal dominant 5 NA NA apoptotic process (GO:0006915)|inner ear receptor cell differentiation (GO:0060113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|sensory perception of sound (GO:0007605) cytoplasm (GO:0005737) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1) 19 GGAATATACTCTAGGAGCATT 0.393 NA C||| 601 0.120008 0.1301 0.1427 5008 , , NA 20349 0.0575 NA 0.1312 False NA ,,, NA NA NA 2504 0.1431 NA NA NA GBM(78;184 1250 20134 20900 23600) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF007790 CCDS5389.1, CCDS47563.1 7p15 2011-07-01 ENSG00000105928 ENSG00000105928 1687 2810 protein-coding gene gene with protein product 608798 NA 8589696, 9450185 Standard NM_004403 NM_004403 NA Approved ICERE-1 uc010kus.1 O60443 OTTHUMG00000023237 ENST00000342947.3:c.*481G>C chr7.hg19:g.24738164C>G NA A4D156|B2RAX9|B3KT05|O14590|Q08AQ8|Q9UBV3 hg19 CCDS5389.1 0.02 7.279754 ACTxTAG COVERED NOVEL DFNA5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000214060.2 2 6.312806 KEEP 0 0 0 21 712 CC 0.999869 0.999869 0 - 11 60 422 0 0 29.78262 158 60 5994 210 ENST00000342947.3 0.065089 1 DFNA5 1687 __UNKNOWN__ __UNKNOWN__ 7 24759138 24759138 __UNKNOWN__ Intron SNP G G A rs2237308 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:24759138G>A ENST00000342947.3 - 4 830 DFNA5_ENST00000409775.3_Intron|DFNA5_ENST00000419307.1_Intron|DFNA5_ENST00000559637.1_Intron|DFNA5_ENST00000409970.1_Intron|DFNA5_ENST00000545231.1_Intron NM_004403.2 NP_004394.1 O60443 DFNA5_HUMAN deafness, autosomal dominant 5 NA NA apoptotic process (GO:0006915)|inner ear receptor cell differentiation (GO:0060113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|sensory perception of sound (GO:0007605) cytoplasm (GO:0005737) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1) 19 AGggccaggcgtggtggctca 0.572 NA G||| 978 0.195288 0.0257 0.0922 5008 , , NA 18603 0.4425 NA 0.1064 False NA ,,, NA NA NA 2504 0.3344 NA NA NA GBM(78;184 1250 20134 20900 23600) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF007790 CCDS5389.1, CCDS47563.1 7p15 2011-07-01 ENSG00000105928 ENSG00000105928 1687 2810 protein-coding gene gene with protein product 608798 NA 8589696, 9450185 Standard NM_004403 NM_004403 NA Approved ICERE-1 uc010kus.1 O60443 OTTHUMG00000023237 ENST00000342947.3:c.405-301C>T chr7.hg19:g.24759138G>A NA A4D156|B2RAX9|B3KT05|O14590|Q08AQ8|Q9UBV3 hg19 CCDS5389.1 0.02 -0.096504 GGCxTGG UNCOVERED NOVEL DFNA5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000214060.2 1 2.404276 KEEP 1 0 0 8 271 GG 0 0 0 - 5 60 183 0 0 17.393998 6 60 213 24 ENST00000342947.3 0.454545 0.120436 C7orf31 136895 __UNKNOWN__ __UNKNOWN__ 7 25174400 25174400 __UNKNOWN__ 3'UTR SNP T T C rs188020907 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:25174400T>C ENST00000409280.1 - 0 3272 Q8N865 CG031_HUMAN chromosome 7 open reading frame 31 NA NA autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1) 14 Gtgtacactatatctccctca 0.383 NA T||| 1 0.000199681 0.0 0.0 5008 , , NA 18897 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK097248 CCDS5394.1 7p15.2 2011-11-24 ENSG00000153790 ENSG00000153790 136895 21722 protein-coding gene gene with protein product NA Standard NM_138811 NM_138811 NA Approved uc003sxn.1 Q8N865 OTTHUMG00000128497 ENST00000409280.1:c.*1191A>G chr7.hg19:g.25174400T>C NA A4D165|Q6MZV8|Q6P989|Q7LE28|Q86XK1|Q8N1H5|Q96BN4 hg19 CCDS5394.1 0.02 6.901225 CTAxATC COVERED NOVEL C7orf31-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000326929.1 1 11.433419 KEEP 0 0 0 38 1177 TT 1 1 0 - 7 60 263 0 0 16.828837 171 60 6249 279 ENST00000409280.1 0.039326 1 NPVF 64111 __UNKNOWN__ __UNKNOWN__ 7 25264488 25264488 __UNKNOWN__ 3'UTR SNP A A G rs73691518 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:25264488A>G ENST00000222674.2 - 0 890 NM_022150.3 NP_071433 Q9HCQ7 NPVF_HUMAN neuropeptide VF precursor NA NA negative regulation of gonadotropin secretion (GO:0032277)|neuropeptide signaling pathway (GO:0007218) extracellular region (GO:0005576) cervix(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1) 15 CTCTCTCTCCATTATCAGAGA 0.299 NA A||| 515 0.102835 0.146 0.0706 5008 , , NA 18364 0.1875 NA 0.006 False NA ,,, NA NA NA 2504 0.0798 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB040290 CCDS5395.1 7p21-p15 2013-02-28 2006-10-06 2006-10-06 ENSG00000105954 ENSG00000105954 64111 Endogenous ligands 13782 protein-coding gene gene with protein product RFamide-related peptide precursor, FMRFamide-related peptide precursor chromosome 7 open reading frame 9 C7orf9 NA 11951088, 11173868 Standard NM_022150 NM_022150 NA Approved RFRP uc003sxo.3 Q9HCQ7 OTTHUMG00000128509 ENST00000222674.2:c.*253T>C chr7.hg19:g.25264488A>G NA A4D164|Q7LE27|Q96PI9 hg19 CCDS5395.1 0.02 3.886425 TCCxTTA COVERED NOVEL NPVF-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250315.1 0 3.008932 KEEP 0 0 0 10 307 AA 0.992708 0.992708 0 - 6 60 200 0 0 12.014921 140 60 5146 175 ENST00000222674.2 0.041096 1 NFE2L3 9603 __UNKNOWN__ __UNKNOWN__ 7 26223294 26223294 __UNKNOWN__ Intron SNP A A G rs12113404 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:26223294A>G ENST00000056233.3 + 3 1009 NM_004289.6 NP_004280.5 Q9Y4A8 NF2L3_HUMAN nuclear factor, erythroid 2-like 3 NA NA transcription from RNA polymerase II promoter (GO:0006366) nucleus (GO:0005634) RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713) breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7) 29 TTTATGTGAAAGATGCACTTT 0.378 NA G||| 1741 0.347644 0.497 0.2507 5008 , , NA 19743 0.5466 NA 0.1213 False NA ,,, NA NA NA 2504 0.2423 NA NA NA NA 0 G 1936,2470 619.2+/-393.3 417,1102,684 101 98 99 -5.8 0 7 dbSNP_120 99 864,7736 777.8+/-407.7 52,760,3488 no intron NFE2L3 NM_004289.6 469,1862,4172 GG,GA,AA 10.0465,43.9401,21.5285 26223294 2800,10206 2203 4300 6503 SO:0001627 intron_variant AB010812 CCDS5396.1 7p15.2 2013-08-23 2013-08-23 ENSG00000050344 ENSG00000050344 9603 basic leucine zipper proteins 7783 protein-coding gene gene with protein product 604135 nuclear factor (erythroid-derived 2)-like 3 NA 10037736 Standard NM_004289 NA Approved Nrf3 uc003sxq.3 Q9Y4A8 OTTHUMG00000023882 ENST00000056233.3:c.751-27A>G chr7.hg19:g.26223294A>G NA Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4 hg19 CCDS5396.1 0.02 4.491511 GAAxGAT COVERED NOVEL NFE2L3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000214088.1 1 4.5132 KEEP 0 0 0 15 470 AA 0.99649 0.99649 0 + 14 60 537 0 0 40.854591 121 60 4240 150 ENST00000056233.3 0.103704 1 NFE2L3 9603 __UNKNOWN__ __UNKNOWN__ 7 26224668 26224668 __UNKNOWN__ Silent SNP C C T rs2074566 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:26224668C>T ENST00000056233.3 + 4 1609 c.1350C>T c.(1348-1350)tgC>tgT p.C450C NM_004289.6 NP_004280.5 Q9Y4A8 NF2L3_HUMAN nuclear factor, erythroid 2-like 3 450 NA transcription from RNA polymerase II promoter (GO:0006366) nucleus (GO:0005634) RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713) breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7) 29 TAGGTTATTGCACTGACCATG 0.423 NA T||| 1783 0.35603 0.5325 0.2565 5008 , , NA 22551 0.5466 NA 0.1203 False NA ,,, NA NA NA 2504 0.2342 NA NA NA NA 0 T 2044,2362 609.9+/-391.4 468,1108,627 156 167 163 1350 -5.4 0 7 dbSNP_96 163 865,7735 779.5+/-407.7 52,761,3487 no coding-synonymous NFE2L3 NM_004289.6 520,1869,4114 TT,TC,CC 10.0581,46.3913,22.3666 450/695 26224668 2909,10097 2203 4300 6503 SO:0001819 synonymous_variant AB010812 CCDS5396.1 7p15.2 2013-08-23 2013-08-23 ENSG00000050344 ENSG00000050344 9603 basic leucine zipper proteins 7783 protein-coding gene gene with protein product 604135 nuclear factor (erythroid-derived 2)-like 3 NA 10037736 Standard NM_004289 NA Approved Nrf3 uc003sxq.3 Q9Y4A8 OTTHUMG00000023882 ENST00000056233.3:c.1350C>T chr7.hg19:g.26224668C>T NA Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4 hg19 CCDS5396.1 0.02 12.621731 TTGxACT COVERED NOVEL NFE2L3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000214088.1 2 15.650891 KEEP 0 0 0 52 1858 CC 1 1 0 + 24 60 857 0 0 60.143977 296 60 11082 428 ENST00000056233.3 0.075 1 CBX3 11335 __UNKNOWN__ __UNKNOWN__ 7 26252166 26252166 __UNKNOWN__ 3'UTR SNP G G A rs9768454 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:26252166G>A ENST00000337620.4 + 0 1318 CBX3_ENST00000409747.1_3'UTR|CBX3_ENST00000396386.2_3'UTR NM_007276.4 NP_009207.2 Q13185 CBX3_HUMAN chromobox homolog 3 NA NA chromatin remodeling (GO:0006338)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351) chromatin (GO:0000785)|condensed chromosome, centromeric region (GO:0000779)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nuclear inner membrane (GO:0005637)|nuclear pericentric heterochromatin (GO:0031618)|nucleus (GO:0005634)|spindle (GO:0005819) enzyme binding (GO:0019899)|histone methyltransferase binding (GO:1990226)|identical protein binding (GO:0042802)|protein domain specific binding (GO:0019904) endometrium(4)|large_intestine(2)|lung(2)|ovary(1) 9 GTGTTCTCATGAGCCTAAGGA 0.343 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U26312 CCDS5398.1 7p15.2 2010-07-06 2010-06-24 ENSG00000122565 ENSG00000122565 11335 1553 protein-coding gene gene with protein product HP1 gamma homolog (Drosophila) 604477 chromobox homolog 3 (Drosophila HP1 gamma) NA 8663349 Standard NM_007276 NM_016587 NA Approved HP1Hs-gamma uc003sxu.3 Q13185 OTTHUMG00000022911 ENST00000337620.4:c.*338G>A chr7.hg19:g.26252166G>A NA Q96CD7|Q99409|Q9BVS3|Q9P0Z6 hg19 CCDS5398.1 0.02 27.962303 CATxAGC COVERED NOVEL CBX3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000214117.1 12 16.088732 KEEP 0 4 109 92 3289 GG 1 1 0 + 21 60 766 0 0 46.39417 627 70 23786 961 ENST00000337620.4 0.032407 1 CBX3 11335 __UNKNOWN__ __UNKNOWN__ 7 26252382 26252382 __UNKNOWN__ 3'UTR SNP A A G rs10156063 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:26252382A>G ENST00000337620.4 + 0 1534 CBX3_ENST00000409747.1_3'UTR|CBX3_ENST00000396386.2_3'UTR NM_007276.4 NP_009207.2 Q13185 CBX3_HUMAN chromobox homolog 3 NA NA chromatin remodeling (GO:0006338)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351) chromatin (GO:0000785)|condensed chromosome, centromeric region (GO:0000779)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nuclear inner membrane (GO:0005637)|nuclear pericentric heterochromatin (GO:0031618)|nucleus (GO:0005634)|spindle (GO:0005819) enzyme binding (GO:0019899)|histone methyltransferase binding (GO:1990226)|identical protein binding (GO:0042802)|protein domain specific binding (GO:0019904) endometrium(4)|large_intestine(2)|lung(2)|ovary(1) 9 TTTTCCTGAAACCATACATTT 0.284 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U26312 CCDS5398.1 7p15.2 2010-07-06 2010-06-24 ENSG00000122565 ENSG00000122565 11335 1553 protein-coding gene gene with protein product HP1 gamma homolog (Drosophila) 604477 chromobox homolog 3 (Drosophila HP1 gamma) NA 8663349 Standard NM_007276 NM_016587 NA Approved HP1Hs-gamma uc003sxu.3 Q13185 OTTHUMG00000022911 ENST00000337620.4:c.*554A>G chr7.hg19:g.26252382A>G NA Q96CD7|Q99409|Q9BVS3|Q9P0Z6 hg19 CCDS5398.1 0.02 20.745111 GAAxCCA COVERED NOVEL CBX3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000214117.1 6 13.208214 KEEP 0 2 72 69 2135 AA 1 1 0 + 18 60 668 0 0 42.417572 442 60 15701 624 ENST00000337620.4 0.03913 1 SNX10 29887 __UNKNOWN__ __UNKNOWN__ 7 26413088 26413088 __UNKNOWN__ 3'UTR SNP A A T rs10807832 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:26413088A>T ENST00000338523.4 + 0 1689 AC004540.4_ENST00000451264.1_RNA|SNX10_ENST00000396376.1_3'UTR|AC004540.4_ENST00000451368.1_RNA NM_001199835.1|NM_013322.2 NP_001186764.1|NP_037454.2 Q9Y5X0 SNX10_HUMAN sorting nexin 10 NA NA cilium assembly (GO:0042384)|endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|osteoclast differentiation (GO:0030316)|protein localization to centrosome (GO:0071539)|protein localization to cilium (GO:0061512) cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extrinsic component of endosome membrane (GO:0031313)|nucleus (GO:0005634) 1-phosphatidylinositol binding (GO:0005545)|ATPase binding (GO:0051117) endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1) 6 aattttaCCAATAAATATTCC 0.259 NA A||| 530 0.105831 0.0703 0.1816 5008 , , NA 13256 0.1379 NA 0.1163 False NA ,,, NA NA NA 2504 0.0562 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF121860 CCDS5399.1, CCDS56470.1 7p15.2 2008-05-22 ENSG00000086300 ENSG00000086300 29887 Sorting nexins 14974 protein-coding gene gene with protein product 614780 NA 17012226 Standard NM_013322 NA Approved uc010kuu.3 Q9Y5X0 OTTHUMG00000023650 ENST00000338523.4:c.*896A>T chr7.hg19:g.26413088A>T NA E9PFH5|Q8IYT5 hg19 CCDS5399.1 0.02 4.094826 CCAxTAA COVERED NOVEL SNX10-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000214120.1 1 9.027071 KEEP 0 0 0 30 956 AA 0.999997 0.999997 0 + 7 60 251 0 0 16.287708 137 60 4912 189 ENST00000338523.4 0.048611 1 SNX10 29887 __UNKNOWN__ __UNKNOWN__ 7 26413423 26413423 __UNKNOWN__ 3'UTR SNP C C T rs3193526 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:26413423C>T ENST00000338523.4 + 0 2024 AC004540.4_ENST00000451264.1_RNA|SNX10_ENST00000396376.1_3'UTR|AC004540.4_ENST00000451368.1_RNA NM_001199835.1|NM_013322.2 NP_001186764.1|NP_037454.2 Q9Y5X0 SNX10_HUMAN sorting nexin 10 NA NA cilium assembly (GO:0042384)|endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|osteoclast differentiation (GO:0030316)|protein localization to centrosome (GO:0071539)|protein localization to cilium (GO:0061512) cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extrinsic component of endosome membrane (GO:0031313)|nucleus (GO:0005634) 1-phosphatidylinositol binding (GO:0005545)|ATPase binding (GO:0051117) endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1) 6 GAGGCTACTACAAAAAGCAAC 0.313 NA C||| 530 0.105831 0.0703 0.1816 5008 , , NA 13656 0.1379 NA 0.1163 False NA ,,, NA NA NA 2504 0.0562 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF121860 CCDS5399.1, CCDS56470.1 7p15.2 2008-05-22 ENSG00000086300 ENSG00000086300 29887 Sorting nexins 14974 protein-coding gene gene with protein product 614780 NA 17012226 Standard NM_013322 NA Approved uc010kuu.3 Q9Y5X0 OTTHUMG00000023650 ENST00000338523.4:c.*1231C>T chr7.hg19:g.26413423C>T NA E9PFH5|Q8IYT5 hg19 CCDS5399.1 0.02 6.947021 CTAxAAA COVERED NOVEL SNX10-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000214120.1 0 11.973641 KEEP 0 1 32 51 1815 CC 1 1 0 + 8 60 300 0 0 20.256494 142 60 5422 248 ENST00000338523.4 0.053333 1 C7orf71 285941 __UNKNOWN__ __UNKNOWN__ 7 26678789 26678789 __UNKNOWN__ Missense_Mutation SNP C C A rs116854597 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:26678789C>A ENST00000409974.3 + 2 742 c.26C>A c.(25-27)aCc>aAc p.T9N NM_001145531.1 NP_001139003.1 A4D174 CG071_HUMAN chromosome 7 open reading frame 71 9 NA NA tgggccctaacccaatctgac 0.493 NA C||| 111 0.0221645 0.0 0.0 5008 , , NA 18144 0.1081 NA 0.0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 53 61 59 NA NA 7 NA 26678789 692 1591 2283 SO:0001583 missense CCDS47565.1 7p15.2 2009-09-11 ENSG00000222004 ENSG00000222004 285941 22364 protein-coding gene gene with protein product NA Standard NM_001145531 NM_001145531 NA Approved uc003syb.3 A4D174 OTTHUMG00000152860 ENST00000409974.3:c.26C>A chr7.hg19:g.26678789C>A ENSP00000386749:p.Thr9Asn NA hg19 CCDS47565.1 0.02 1.839098 TAAxCCA COVERED 57 0.0260989010989011 0 0.0 0 0.0 57 0.09965034965034965 0 0.0 c 4.858 0.159572 0.09287 . . ENSG00000222004 ENST00000409974 . . . 0.392 0.392 0.16288 . . . . . T 0.00845 0.0028 N 0.08118 0 0.09310 N 1 D 0.54772 0.968 P 0.61874 0.895 T 0.05386 -1.0888 7 0.54805 T 0.06 . . . . . 9 A4D174 CG071_HUMAN N 9 . ENSP00000386749:T9N T + 2 0 C7orf71 26645314 0.004000 0.15560 0.051000 0.19133 0.049000 0.14656 -0.142000 0.10311 0.431000 0.26258 0.431000 0.28591 ACC NOVEL C7orf71-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000328272.1 1 4.514819 KEEP 0 0 0 15 535 CC 0.99649 0.994697 0 + 4 60 141 0 0 9.253785 70 60 2519 105 ENST00000409974.3 0.054054 0.9982 C7orf71 285941 __UNKNOWN__ __UNKNOWN__ 7 26685934 26685934 __UNKNOWN__ Silent SNP T T C rs12671270 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:26685934T>C ENST00000409974.3 + 4 1001 c.285T>C c.(283-285)tgT>tgC p.C95C NM_001145531.1 NP_001139003.1 A4D174 CG071_HUMAN chromosome 7 open reading frame 71 95 NA NA TCTCCGCATGTGGGACTCTCG 0.423 NA C||| 1413 0.282149 0.351 0.2176 5008 , , NA 18149 0.3264 NA 0.2724 False NA ,,, NA NA NA 2504 0.1994 NA NA NA NA 0 C 483,901 96,291,305 79 70 73 285 -1.3 0 7 dbSNP_120 73 967,2215 153,661,777 no coding-synonymous C7orf71 NM_001145531.1 249,952,1082 CC,CT,TT 30.3897,34.8988,31.7565 95/170 26685934 1450,3116 692 1591 2283 SO:0001819 synonymous_variant CCDS47565.1 7p15.2 2009-09-11 ENSG00000222004 ENSG00000222004 285941 22364 protein-coding gene gene with protein product NA Standard NM_001145531 NM_001145531 NA Approved uc003syb.3 A4D174 OTTHUMG00000152860 ENST00000409974.3:c.285T>C chr7.hg19:g.26685934T>C NA hg19 CCDS47565.1 0.02 11.440414 ATGxGGG COVERED NOVEL C7orf71-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000328272.1 3 7.823001 KEEP 0 0 0 26 813 TT 0.999957 0.999957 0 + 12 60 426 0 0 27.181864 250 60 8874 345 ENST00000409974.3 0.045802 1 SKAP2 8935 __UNKNOWN__ __UNKNOWN__ 7 26709666 26709666 __UNKNOWN__ Intron SNP G G A rs3735549 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:26709666G>A ENST00000345317.2 - 12 1403 SKAP2_ENST00000539623.1_Intron NM_003930.3 NP_003921.2 O75563 SKAP2_HUMAN src kinase associated phosphoprotein 2 NA NA B cell activation (GO:0042113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of signal transduction (GO:0009967)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886) SH3/SH2 adaptor activity (GO:0005070) haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3) 17 GAGACCAAGAGAACATATGAG 0.343 NA G||| 444 0.0886581 0.0015 0.0648 5008 , , NA 14151 0.2748 NA 0.0417 False NA ,,, NA NA NA 2504 0.0798 NA NA NA NA 0 G 12,1372 0,12,680 58 54 55 5.4 1 7 dbSNP_107 55 122,3060 2,118,1471 no intron SKAP2 NM_003930.3 2,130,2151 AA,AG,GG 3.8341,0.8671,2.9347 26709666 134,4432 692 1591 2283 SO:0001627 intron_variant CCDS5400.1 7p15.2 2013-01-10 2006-09-28 2006-09-28 ENSG00000005020 ENSG00000005020 8935 Pleckstrin homology (PH) domain containing 15687 protein-coding gene gene with protein product 605215 src family associated phosphoprotein 2 SCAP2 NA 9837776, 9755858 Standard NM_003930 NA Approved RA70, SKAP-HOM, SKAP55R, SAPS uc003syc.3 O75563 OTTHUMG00000023495 ENST00000345317.2:c.1077+43C>T chr7.hg19:g.26709666G>A NA A4D173|Q53GP6|Q75MK6|Q75MZ4|Q9UBZ3|Q9UED8 hg19 CCDS5400.1 0.02 32.678393 AGAxAAC COVERED NOVEL SKAP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000214128.1 5 21.105212 KEEP 0 1 34 82 2970 GG 1 1 0 - 46 60 1631 0 0 109.786763 711 60 27039 992 ENST00000345317.2 0.060766 1 HOXA3 3200 __UNKNOWN__ __UNKNOWN__ 7 27146202 27146202 __UNKNOWN__ 3'UTR SNP A A G rs61384251 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:27146202A>G ENST00000396352.4 - 0 2863 NM_030661.4 NP_109377.1 O43365 HXA3_HUMAN homeobox A3 NA NA angiogenesis (GO:0001525)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1) 29 GCTGGCTAATACCGAGGTTTA 0.632 NA A||| 820 0.163738 0.2474 0.2493 5008 , , NA 16429 0.1379 NA 0.1173 False NA ,,, NA NA NA 2504 0.0644 NA NA NA Esophageal Squamous(136;1368 1743 5685 7935 50360) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS5404.1 7p15.2 2011-06-20 2005-12-22 ENSG00000105997 ENSG00000105997 3200 Homeoboxes / ANTP class : HOXL subclass 5104 protein-coding gene gene with protein product 142954 homeo box A3 HOX1E, HOX1 NA 1973146, 1358459 Standard XM_005249730 NA Approved uc011jzl.2 O43365 OTTHUMG00000023209 ENST00000396352.4:c.*1332T>C chr7.hg19:g.27146202A>G NA A4D181 hg19 CCDS5404.1 0.02 6.760937 AATxCCG COVERED NOVEL HOXA3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000358708.2 1 24.062956 KEEP 0 0 0 80 2339 AA 1 1 0 - 9 60 342 0 0 22.681241 185 60 6369 341 ENST00000396352.4 0.046392 1 HOXA4 3201 __UNKNOWN__ __UNKNOWN__ 7 27168590 27168590 __UNKNOWN__ 3'UTR SNP A A G rs1801085 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:27168590A>G ENST00000360046.5 - 0 1282 HOXA-AS2_ENST00000521159.1_RNA|HOXA4_ENST00000428284.2_3'UTR|HOXA3_ENST00000521401.1_Intron|RP1-170O19.22_ENST00000467897.2_RNA NM_002141.4 NP_002132.3 Q00056 HXA4_HUMAN homeobox A4 NA NA anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6) 12 TCAGGTATCCACACCTGGCAG 0.522 NA A||| 907 0.18111 0.3268 0.2478 5008 , , NA 15141 0.1369 NA 0.0994 False NA ,,, NA NA NA 2504 0.0665 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS5405.1 7p15.2 2011-06-20 2005-12-22 ENSG00000197576 ENSG00000197576 3201 Homeoboxes / ANTP class : HOXL subclass 5105 protein-coding gene gene with protein product 142953 homeo box A4 HOX1D, HOX1 NA 1973146, 1358459 Standard NM_002141 NA Approved uc003sym.4 Q00056 OTTHUMG00000023213 ENST00000360046.5:c.*254T>C chr7.hg19:g.27168590A>G NA A4D180|O43366 hg19 CCDS5405.1 0.02 9.527749 TCCxCAC COVERED NOVEL HOXA4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000059534.4 2 28.28444 KEEP 0 0 0 94 2972 AA 1 1 0 - 19 60 664 0 0 46.567884 223 60 7861 424 ENST00000360046.5 0.078512 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 27530662 27530662 __UNKNOWN__ IGR SNP A A G rs10230098 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:27530662A>G NA NA AC004009.3 (81105 upstream) : HIBADH (34398 downstream) NA NA NA gtatgcgacaagcacgcaata 0.413 NA G||| 2581 0.515375 0.5787 0.5259 5008 , , NA 16682 0.6042 NA 0.4344 False NA ,,, NA NA NA 2504 0.4141 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.27530662A>G NA hg19 0.02 2.464426 ACAxGCA COVERED NOVEL 0 0 2.708535 KEEP 0 0 0 9 297 AA 0.99254 0.989724 0 7 60 249 0 0 18.320502 64 60 2335 100 0.098592 0.997163 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 27531748 27531748 __UNKNOWN__ IGR SNP C C T rs2037636 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:27531748C>T NA NA AC004009.3 (82191 upstream) : HIBADH (33312 downstream) NA NA NA GCTTCTTTGCCCCGAAGCCGT 0.607 NA C||| 842 0.168131 0.09 0.2752 5008 , , NA 16146 0.374 NA 0.0298 False NA ,,, NA NA NA 2504 0.1278 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.27531748C>T NA hg19 0.02 1.922616 TGCxCCG COVERED NOVEL 0 0 2.407777 KEEP 0 0 0 8 279 CC 0.99257 0.991275 0 7 60 244 0 0 17.603871 69 60 2458 93 0.092105 0.998696 HIBADH 11112 __UNKNOWN__ __UNKNOWN__ 7 27565161 27565161 __UNKNOWN__ 3'UTR SNP A A G rs1052741 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:27565161A>G ENST00000265395.2 - 0 1889 NM_152740.3 NP_689953.1 P31937 3HIDH_HUMAN 3-hydroxyisobutyrate dehydrogenase NA NA branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|pentose-phosphate shunt (GO:0006098)|small molecule metabolic process (GO:0044281)|valine catabolic process (GO:0006574) mitochondrial matrix (GO:0005759) 3-hydroxyisobutyrate dehydrogenase activity (GO:0008442)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616) endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1) 12 GBM - Glioblastoma multiforme(3;0.0368) TCTGAAATGCATCTAAAGATG 0.269 NA G||| 4148 0.828275 0.9697 0.7205 5008 , , NA 16068 0.9593 NA 0.6968 False NA ,,, NA NA NA 2504 0.7137 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF529362 CCDS5414.1 7p15 2009-06-12 ENSG00000106049 ENSG00000106049 11112 1.1.1.31 4907 protein-coding gene gene with protein product 608475 NA Standard NM_152740 NM_152740 NA Approved NS5ATP1 uc003szf.3 P31937 OTTHUMG00000097035 ENST00000265395.2:c.*672T>C chr7.hg19:g.27565161A>G NA Q546Z2|Q9UDN3 hg19 CCDS5414.1 0.02 -0.324246 TGCxTCT COVERED NOVEL HIBADH-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000214132.1 0 3.00918 KEEP 0 0 0 10 318 AA 0.992708 0.829622 0 - 4 60 126 0 0 9.009428 33 60 1153 52 ENST00000265395.2 0.108108 0.835716 HIBADH 11112 __UNKNOWN__ __UNKNOWN__ 7 27566053 27566053 __UNKNOWN__ Intron SNP G G C rs12700813 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:27566053G>C ENST00000265395.2 - 8 1059 NM_152740.3 NP_689953.1 P31937 3HIDH_HUMAN 3-hydroxyisobutyrate dehydrogenase NA NA branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|pentose-phosphate shunt (GO:0006098)|small molecule metabolic process (GO:0044281)|valine catabolic process (GO:0006574) mitochondrial matrix (GO:0005759) 3-hydroxyisobutyrate dehydrogenase activity (GO:0008442)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616) endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1) 12 GBM - Glioblastoma multiforme(3;0.0368) TGGAACTGTGGTTCCTTATGT 0.368 NA G||| 3839 0.766573 0.9062 0.6412 5008 , , NA 18333 0.9583 NA 0.5527 False NA ,,, NA NA NA 2504 0.6892 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF529362 CCDS5414.1 7p15 2009-06-12 ENSG00000106049 ENSG00000106049 11112 1.1.1.31 4907 protein-coding gene gene with protein product 608475 NA Standard NM_152740 NM_152740 NA Approved NS5ATP1 uc003szf.3 P31937 OTTHUMG00000097035 ENST00000265395.2:c.853-62C>G chr7.hg19:g.27566053G>C NA Q546Z2|Q9UDN3 hg19 CCDS5414.1 0.02 4.809885 GTGxTTC COVERED NOVEL HIBADH-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000214132.1 3 4.21374 KEEP 0 0 0 14 493 GG 0.995343 0.995336 0 - 13 60 493 0 0 38.149578 97 60 3617 147 ENST00000265395.2 0.118182 0.999993 HIBADH 11112 __UNKNOWN__ __UNKNOWN__ 7 27581495 27581495 __UNKNOWN__ Intron SNP T T C rs6462029 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:27581495T>C ENST00000265395.2 - 5 825 NM_152740.3 NP_689953.1 P31937 3HIDH_HUMAN 3-hydroxyisobutyrate dehydrogenase NA NA branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|pentose-phosphate shunt (GO:0006098)|small molecule metabolic process (GO:0044281)|valine catabolic process (GO:0006574) mitochondrial matrix (GO:0005759) 3-hydroxyisobutyrate dehydrogenase activity (GO:0008442)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616) endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1) 12 GBM - Glioblastoma multiforme(3;0.0368) cattttatgctcaatacttgt 0.323 NA C||| 4079 0.814497 0.9228 0.7147 5008 , , NA 18246 0.9593 NA 0.6968 False NA ,,, NA NA NA 2504 0.7106 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF529362 CCDS5414.1 7p15 2009-06-12 ENSG00000106049 ENSG00000106049 11112 1.1.1.31 4907 protein-coding gene gene with protein product 608475 NA Standard NM_152740 NM_152740 NA Approved NS5ATP1 uc003szf.3 P31937 OTTHUMG00000097035 ENST00000265395.2:c.618+1090A>G chr7.hg19:g.27581495T>C NA Q546Z2|Q9UDN3 hg19 CCDS5414.1 0.02 4.510646 TGCxCAA COVERED NOVEL HIBADH-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000214132.1 1 6.620581 KEEP 0 0 0 22 725 TT 0.999879 0.999872 0 - 6 60 221 0 0 14.853305 104 60 3768 163 ENST00000265395.2 0.054545 0.999993 HIBADH 11112 __UNKNOWN__ __UNKNOWN__ 7 27582783 27582783 __UNKNOWN__ Intron SNP G G A rs978447 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:27582783G>A ENST00000265395.2 - 5 691 NM_152740.3 NP_689953.1 P31937 3HIDH_HUMAN 3-hydroxyisobutyrate dehydrogenase NA NA branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|pentose-phosphate shunt (GO:0006098)|small molecule metabolic process (GO:0044281)|valine catabolic process (GO:0006574) mitochondrial matrix (GO:0005759) 3-hydroxyisobutyrate dehydrogenase activity (GO:0008442)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616) endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1) 12 GBM - Glioblastoma multiforme(3;0.0368) GTTTAGGCAGGTAATAAAATT 0.363 NA a||| 4077 0.814097 0.9228 0.7161 5008 , , NA 17863 0.9593 NA 0.6998 False NA ,,, NA NA NA 2504 0.7045 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF529362 CCDS5414.1 7p15 2009-06-12 ENSG00000106049 ENSG00000106049 11112 1.1.1.31 4907 protein-coding gene gene with protein product 608475 NA Standard NM_152740 NM_152740 NA Approved NS5ATP1 uc003szf.3 P31937 OTTHUMG00000097035 ENST00000265395.2:c.485-64C>T chr7.hg19:g.27582783G>A NA Q546Z2|Q9UDN3 hg19 CCDS5414.1 0.02 1.889726 CAGxTAA COVERED NOVEL HIBADH-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000214132.1 0 2.44286 KEEP 0 1 31 19 678 GG 0.999863 0.999725 0 - 8 60 300 0 0 22.055765 83 60 3054 130 ENST00000265395.2 0.087912 0.999862 HIBADH 11112 __UNKNOWN__ __UNKNOWN__ 7 27671899 27671899 __UNKNOWN__ Intron SNP T T C rs7779990 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:27671899T>C ENST00000265395.2 - 3 569 NM_152740.3 NP_689953.1 P31937 3HIDH_HUMAN 3-hydroxyisobutyrate dehydrogenase NA NA branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|pentose-phosphate shunt (GO:0006098)|small molecule metabolic process (GO:0044281)|valine catabolic process (GO:0006574) mitochondrial matrix (GO:0005759) 3-hydroxyisobutyrate dehydrogenase activity (GO:0008442)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616) endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1) 12 GBM - Glioblastoma multiforme(3;0.0368) AGTTCTAACATGTGAAATTCA 0.299 NA C||| 4229 0.844449 0.9123 0.7435 5008 , , NA 17159 0.9762 NA 0.7316 False NA ,,, NA NA NA 2504 0.8047 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF529362 CCDS5414.1 7p15 2009-06-12 ENSG00000106049 ENSG00000106049 11112 1.1.1.31 4907 protein-coding gene gene with protein product 608475 NA Standard NM_152740 NM_152740 NA Approved NS5ATP1 uc003szf.3 P31937 OTTHUMG00000097035 ENST00000265395.2:c.362+55A>G chr7.hg19:g.27671899T>C NA Q546Z2|Q9UDN3 hg19 CCDS5414.1 0.02 4.085951 ACAxGTG COVERED NOVEL HIBADH-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000214132.1 0 3.910217 KEEP 0 0 0 13 372 TT 0.994391 0.994391 0 - 9 60 333 0 0 22.893797 138 60 5066 170 ENST00000265395.2 0.061224 1 JAZF1 221895 __UNKNOWN__ __UNKNOWN__ 7 27886216 27886216 __UNKNOWN__ Intron SNP T T C rs76255619 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:27886216T>C ENST00000283928.5 - 4 551 JAZF1_ENST00000466516.1_Intron NM_175061.3 NP_778231.2 Q86VZ6 JAZF1_HUMAN JAZF zinc finger 1 NA NA negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053) metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|transcription corepressor activity (GO:0003714) JAZF1/SUZ12(133) endometrium(1)|large_intestine(1)|lung(4) 6 tggttagctctattttgctaa 0.408 NA T SUZ12 endometrial stromal tumours T||| 208 0.0415335 0.0673 0.0159 5008 , , NA 19652 0.0853 NA 0.0119 False NA ,,, NA NA NA 2504 0.0102 NA NA NA Dom yes 7 7p15.2-p15.1 221895 juxtaposed with another zinc finger gene 1 M 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC047229 CCDS5416.1 7p15.2-p15.1 2010-04-14 ENSG00000153814 ENSG00000153814 221895 Zinc fingers, C2H2-type 28917 protein-coding gene gene with protein product 606246 NA 8401585 Standard NM_175061 XM_006715656 NA Approved TIP27, DKFZp761K2222, ZNF802 uc003szn.3 Q86VZ6 OTTHUMG00000128545 ENST00000283928.5:c.386-5730A>G chr7.hg19:g.27886216T>C NA A4D195|Q8N3L7 hg19 CCDS5416.1 0.02 11.201987 CTCxATT COVERED NOVEL JAZF1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250382.2 0 10.832246 KEEP 0 0 0 36 1137 TT 0.999999 0.999999 0 - 10 60 382 0 0 24.654848 245 60 8840 332 ENST00000283928.5 0.039216 1 JAZF1 221895 __UNKNOWN__ __UNKNOWN__ 7 28031704 28031704 __UNKNOWN__ Intron SNP T T C rs73089199 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:28031704T>C ENST00000283928.5 - 2 281 NM_175061.3 NP_778231.2 Q86VZ6 JAZF1_HUMAN JAZF zinc finger 1 NA NA negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053) metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|transcription corepressor activity (GO:0003714) JAZF1/SUZ12(133) endometrium(1)|large_intestine(1)|lung(4) 6 AAGATTAATTTAGTACACCAC 0.303 NA T SUZ12 endometrial stromal tumours T||| 1574 0.314297 0.2383 0.3386 5008 , , NA 18837 0.4841 NA 0.2286 False NA ,,, NA NA NA 2504 0.3129 NA NA NA Dom yes 7 7p15.2-p15.1 221895 juxtaposed with another zinc finger gene 1 M 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC047229 CCDS5416.1 7p15.2-p15.1 2010-04-14 ENSG00000153814 ENSG00000153814 221895 Zinc fingers, C2H2-type 28917 protein-coding gene gene with protein product 606246 NA 8401585 Standard NM_175061 XM_006715656 NA Approved TIP27, DKFZp761K2222, ZNF802 uc003szn.3 Q86VZ6 OTTHUMG00000128545 ENST00000283928.5:c.116-104A>G chr7.hg19:g.28031704T>C NA A4D195|Q8N3L7 hg19 CCDS5416.1 0.02 14.698061 ATTxAGT COVERED NOVEL JAZF1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250382.2 1 14.740327 KEEP 0 0 0 49 1468 TT 1 1 0 - 26 60 988 0 0 71.198029 318 60 11367 434 ENST00000283928.5 0.075581 1 JAZF1 221895 __UNKNOWN__ __UNKNOWN__ 7 28111061 28111061 __UNKNOWN__ Intron SNP G G A rs7783206 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:28111061G>A ENST00000283928.5 - 2 281 NM_175061.3 NP_778231.2 Q86VZ6 JAZF1_HUMAN JAZF zinc finger 1 NA NA negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053) metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|transcription corepressor activity (GO:0003714) JAZF1/SUZ12(133) endometrium(1)|large_intestine(1)|lung(4) 6 AAAATCTTTAGTCCTCCTTTC 0.358 NA T SUZ12 endometrial stromal tumours A||| 1263 0.252196 0.4796 0.072 5008 , , NA 18604 0.4028 NA 0.0557 False NA ,,, NA NA NA 2504 0.1196 NA NA NA Dom yes 7 7p15.2-p15.1 221895 juxtaposed with another zinc finger gene 1 M 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC047229 CCDS5416.1 7p15.2-p15.1 2010-04-14 ENSG00000153814 ENSG00000153814 221895 Zinc fingers, C2H2-type 28917 protein-coding gene gene with protein product 606246 NA 8401585 Standard NM_175061 XM_006715656 NA Approved TIP27, DKFZp761K2222, ZNF802 uc003szn.3 Q86VZ6 OTTHUMG00000128545 ENST00000283928.5:c.116-79461C>T chr7.hg19:g.28111061G>A NA A4D195|Q8N3L7 hg19 CCDS5416.1 0.02 1.844653 TTAxTCC COVERED NOVEL JAZF1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250382.2 1 2.708825 KEEP 0 0 0 9 319 GG 0.99254 0.983572 0 - 4 60 135 0 0 8.970487 58 60 2173 71 ENST00000283928.5 0.064516 0.990964 JAZF1-AS1 100128081 __UNKNOWN__ __UNKNOWN__ 7 28280044 28280044 __UNKNOWN__ RNA SNP G G A rs73302643 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:28280044G>A ENST00000444500.2 + 0 223 JAZF1-AS1_ENST00000455963.1_RNA|JAZF1-AS1_ENST00000436758.1_RNA JAZF1 antisense RNA 1 NA NA NA CTTTCTGTGTGATCCAGTTTG 0.363 NA A||| 1008 0.201278 0.3177 0.1859 5008 , , NA 17446 0.2222 NA 0.0666 False NA ,,, NA NA NA 2504 0.1718 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA 7p15.1 2012-10-12 2012-08-15 ENSG00000234336 ENSG00000234336 100128081 Long non-coding RNAs 41218 non-coding RNA RNA, long non-coding JAZF1 antisense RNA 1 (non-protein coding) NA Standard NR_034097 NR_034097 NA Approved uc011jzq.2 OTTHUMG00000152771 ENST00000444500.2: chr7.hg19:g.28280044G>A NA hg19 0.02 3.675251 TGTxATC COVERED NOVEL JAZF1-AS1-003 KNOWN basic antisense NA antisense OTTHUMT00000327760.2 1 4.815879 KEEP 0 0 0 16 580 GG 0.997832 0.997832 0 + 12 60 411 0 0 29.212239 124 60 4668 169 ENST00000444500.2 0.088235 1 JAZF1-AS1 100128081 __UNKNOWN__ __UNKNOWN__ 7 28280505 28280505 __UNKNOWN__ RNA SNP C C T rs10486580 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:28280505C>T ENST00000444500.2 + 0 653 JAZF1 antisense RNA 1 NA NA NA tctgctttgccggactgtatt 0.458 NA T||| 916 0.182907 0.2579 0.1729 5008 , , NA 22482 0.2242 NA 0.0606 False NA ,,, NA NA NA 2504 0.1718 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA 7p15.1 2012-10-12 2012-08-15 ENSG00000234336 ENSG00000234336 100128081 Long non-coding RNAs 41218 non-coding RNA RNA, long non-coding JAZF1 antisense RNA 1 (non-protein coding) NA Standard NR_034097 NR_034097 NA Approved uc011jzq.2 OTTHUMG00000152771 ENST00000444500.2: chr7.hg19:g.28280505C>T NA hg19 0.02 6.408766 TGCxGGA COVERED NOVEL JAZF1-AS1-003 KNOWN basic antisense NA antisense OTTHUMT00000327760.2 2 2.40658 KEEP 0 0 0 8 260 CC 0.99257 0.99257 0 + 15 60 550 0 0 39.0593 184 60 6117 223 ENST00000444500.2 0.075377 1 CREB5 9586 __UNKNOWN__ __UNKNOWN__ 7 28859215 28859215 __UNKNOWN__ 3'UTR SNP G G T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:28859215G>T ENST00000357727.2 + 0 2236 CREB5_ENST00000396300.2_3'UTR|CREB5_ENST00000396298.2_3'UTR|CREB5_ENST00000409603.1_3'UTR|CREB5_ENST00000396299.2_3'UTR NM_182898.2 NP_878901.2 Q02930 CREB5_HUMAN cAMP responsive element binding protein 5 NA NA adipose tissue development (GO:0060612)|fat cell differentiation (GO:0045444)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366) extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3) 32 CCAACCCTTTGCCTGAAACAT 0.368 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L05515 CCDS5417.1, CCDS5418.1, CCDS43562.1, CCDS43563.1 7p15 2013-01-10 ENSG00000146592 ENSG00000146592 9586 basic leucine zipper proteins 16844 protein-coding gene gene with protein product cAMP response element binding protein CRE-Bpa NA 8378084, 8440710 Standard NM_004904 XM_005249906 NA Approved H_GS165L15.1, CRE-BPA uc003szr.3 Q02930 OTTHUMG00000097081 ENST00000357727.2:c.*319G>T chr7.hg19:g.28859215G>T NA A8KA51|B4DU13|B5BUH3|C9JK47|Q05886|Q06246|Q75N02|Q86UJ9 hg19 CCDS5417.1 0.02 3.988623 TTTxCCT COVERED NOVEL CREB5-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000214204.4 1 6.621153 KEEP 0 0 0 22 777 GG 0.999879 0.999878 0 + 6 60 206 0 0 13.058761 117 60 4364 166 ENST00000357727.2 0.04878 0.999999 TRIL 9865 __UNKNOWN__ __UNKNOWN__ 7 28995800 28995800 __UNKNOWN__ RNA SNP G G A rs61742220 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:28995800G>A ENST00000322982.3 - 0 2134 Q7L0X0 TRIL_HUMAN TLR4 interactor with leucine-rich repeats NA NA inflammatory response (GO:0006954)|innate immune response (GO:0045087)|regulation of cytokine production involved in immune response (GO:0002718)|toll-like receptor 4 signaling pathway (GO:0034142) lipopolysaccharide receptor complex (GO:0046696) lipopolysaccharide binding (GO:0001530) NA CAAAGAGCAGGCGGAAGCGCG 0.726 NA G||| 1545 0.308506 0.1672 0.2651 5008 , , NA 13819 0.6091 NA 0.2137 False NA ,,, NA NA NA 2504 0.318 NA NA NA NA 0 G 532,3210 32,468,1371 5 6 5 1863 2.6 1 7 dbSNP_129 5 1492,6428 118,1256,2586 no coding-synonymous TRIL NM_014817.3 150,1724,3957 AA,AG,GG 18.8384,14.217,17.3555 621/812 28995800 2024,9638 1871 3960 5831 CCDS75573.1 7p14.3 2012-07-13 ENSG00000176734 ENSG00000255690 9865 22200 protein-coding gene gene with protein product 613356 NA 19710467 Standard NM_014817 NM_014817 NA Approved KIAA0644 uc003szt.3 Q7L0X0 OTTHUMG00000152829 ENST00000322982.3: chr7.hg19:g.28995800G>A NA A4D1A6|O75139 hg19 0.02 12.629871 CAGxCGG COVERED NOVEL TRIL-001 KNOWN basic processed_transcript NA processed_transcript OTTHUMT00000328187.2 0 40.463513 KEEP 0 1 30 145 5054 GG 1 1 0 - 20 60 704 0 0 47.493345 299 60 10959 568 ENST00000322982.3 0.062696 1 TRIL 9865 __UNKNOWN__ __UNKNOWN__ 7 28996557 28996557 __UNKNOWN__ RNA SNP C C T rs3735562 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:28996557C>T ENST00000322982.3 - 0 1377 Q7L0X0 TRIL_HUMAN TLR4 interactor with leucine-rich repeats NA NA inflammatory response (GO:0006954)|innate immune response (GO:0045087)|regulation of cytokine production involved in immune response (GO:0002718)|toll-like receptor 4 signaling pathway (GO:0034142) lipopolysaccharide receptor complex (GO:0046696) lipopolysaccharide binding (GO:0001530) NA GCGCTTCAGGCCTCGCAGCCG 0.677 NA C||| 1696 0.338658 0.2776 0.2651 5008 , , NA 14653 0.6091 NA 0.2147 False NA ,,, NA NA NA 2504 0.3221 NA NA NA NA 0 C ASP/GLY 939,2973 124,691,1141 7 9 8 1106 3.9 1 7 dbSNP_107 8 1629,6573 165,1299,2637 yes missense TRIL NM_014817.3 94 289,1990,3778 TT,TC,CC 19.861,24.0031,21.1986 benign 369/812 28996557 2568,9546 1956 4101 6057 CCDS75573.1 7p14.3 2012-07-13 ENSG00000176734 ENSG00000255690 9865 22200 protein-coding gene gene with protein product 613356 NA 19710467 Standard NM_014817 NM_014817 NA Approved KIAA0644 uc003szt.3 Q7L0X0 OTTHUMG00000152829 ENST00000322982.3: chr7.hg19:g.28996557C>T NA A4D1A6|O75139 hg19 0.02 1.711499 AGGxCTC COVERED NOVEL TRIL-001 KNOWN basic processed_transcript NA processed_transcript OTTHUMT00000328187.2 0 11.069876 KEEP 0 1 29 47 1657 CC 1 0.999962 0 - 4 60 135 0 0 8.123758 96 60 3468 201 ENST00000322982.3 0.04 0.999962 TRIL 9865 __UNKNOWN__ __UNKNOWN__ 7 28997141 28997141 __UNKNOWN__ RNA SNP G G C rs6950750 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:28997141G>C ENST00000322982.3 - 0 793 Q7L0X0 TRIL_HUMAN TLR4 interactor with leucine-rich repeats NA NA inflammatory response (GO:0006954)|innate immune response (GO:0045087)|regulation of cytokine production involved in immune response (GO:0002718)|toll-like receptor 4 signaling pathway (GO:0034142) lipopolysaccharide receptor complex (GO:0046696) lipopolysaccharide binding (GO:0001530) NA AGGGAGCGAAGACCGCGTCCG 0.652 NA G||| 1639 0.327276 0.236 0.2637 5008 , , NA 16307 0.6091 NA 0.2147 False NA ,,, NA NA NA 2504 0.3211 NA NA NA NA 0 G 943,3105 105,733,1186 25 32 30 522 4.5 1 7 dbSNP_116 30 1754,6580 160,1434,2573 no coding-synonymous TRIL NM_014817.3 265,2167,3759 CC,CG,GG 21.0463,23.2955,21.7816 174/812 28997141 2697,9685 2024 4167 6191 CCDS75573.1 7p14.3 2012-07-13 ENSG00000176734 ENSG00000255690 9865 22200 protein-coding gene gene with protein product 613356 NA 19710467 Standard NM_014817 NM_014817 NA Approved KIAA0644 uc003szt.3 Q7L0X0 OTTHUMG00000152829 ENST00000322982.3: chr7.hg19:g.28997141G>C NA A4D1A6|O75139 hg19 0.02 13.30646 GAAxACC COVERED NOVEL TRIL-001 KNOWN basic processed_transcript NA processed_transcript OTTHUMT00000328187.2 3 28.457895 KEEP 0 2 70 119 4126 GG 1 1 0 - 15 60 519 0 0 32.539989 318 60 11398 580 ENST00000322982.3 0.045045 1 CPVL 54504 __UNKNOWN__ __UNKNOWN__ 7 29105776 29105776 __UNKNOWN__ Intron SNP A A G rs2270027 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:29105776A>G ENST00000409850.1 - 14 1511 CPVL_ENST00000396276.3_Intron|CPVL_ENST00000265394.5_Intron Q9H3G5 CPVL_HUMAN carboxypeptidase, vitellogenic-like NA NA extracellular vesicular exosome (GO:0070062) serine-type carboxypeptidase activity (GO:0004185) NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1) 28 aaagaaagaaaACATCAGTGT 0.358 NA A||| 1044 0.208466 0.0257 0.1527 5008 , , NA 19886 0.4286 NA 0.1769 False NA ,,, NA NA NA 2504 0.3006 NA NA NA NA 0 A , 271,4135 136.1+/-172.1 10,251,1942 54 55 55 , 0.3 0 7 dbSNP_100 55 1662,6938 277.6+/-293.0 182,1298,2820 no intron,intron CPVL NM_019029.2,NM_031311.3 , 192,1549,4762 GG,GA,AA 19.3256,6.1507,14.8624 , , 29105776 1933,11073 2203 4300 6503 SO:0001627 intron_variant AF106704 CCDS5419.1 7p15.1 2012-02-10 ENSG00000106066 ENSG00000106066 54504 14399 protein-coding gene gene with protein product carboxypeptidase WUG, vitellogenic carboxypeptidase-like protein, CP-Mac carboxypeptidase 609780 NA 11401439 Standard NM_019029 XM_005249786 NA Approved uc003szw.3 Q9H3G5 OTTHUMG00000023669 ENST00000409850.1:c.865-39T>C chr7.hg19:g.29105776A>G NA A4D1A4|Q6UX20|Q8NBL7|Q96AR7|Q9HB41 hg19 CCDS5419.1 0.02 9.176502 GAAxACA COVERED NOVEL CPVL-009 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000328305.1 4 10.82817 KEEP 0 0 0 36 1062 AA 0.999999 0.999999 0 - 9 60 338 0 0 21.689649 216 60 7745 298 ENST00000409850.1 0.04 1 CPVL 54504 __UNKNOWN__ __UNKNOWN__ 7 29111578 29111578 __UNKNOWN__ Intron SNP A A C rs2074784 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:29111578A>C ENST00000409850.1 - 13 1379 CPVL_ENST00000396276.3_Intron|CPVL_ENST00000265394.5_Intron Q9H3G5 CPVL_HUMAN carboxypeptidase, vitellogenic-like NA NA extracellular vesicular exosome (GO:0070062) serine-type carboxypeptidase activity (GO:0004185) NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1) 28 GACCTTAAGGAAGCCCATTTG 0.398 NA A||| 1725 0.344449 0.1248 0.2983 5008 , , NA 18754 0.619 NA 0.2773 False NA ,,, NA NA NA 2504 0.4601 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF106704 CCDS5419.1 7p15.1 2012-02-10 ENSG00000106066 ENSG00000106066 54504 14399 protein-coding gene gene with protein product carboxypeptidase WUG, vitellogenic carboxypeptidase-like protein, CP-Mac carboxypeptidase 609780 NA 11401439 Standard NM_019029 XM_005249786 NA Approved uc003szw.3 Q9H3G5 OTTHUMG00000023669 ENST00000409850.1:c.733-58T>G chr7.hg19:g.29111578A>C NA A4D1A4|Q6UX20|Q8NBL7|Q96AR7|Q9HB41 hg19 CCDS5419.1 0.02 13.701147 AGGxAGC COVERED NOVEL CPVL-009 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000328305.1 0 14.741166 KEEP 0 0 0 49 1458 AA 1 1 0 - 12 60 457 0 0 29.258848 305 60 10894 433 ENST00000409850.1 0.037855 1 CPVL 54504 __UNKNOWN__ __UNKNOWN__ 7 29132212 29132212 __UNKNOWN__ Intron SNP A A G rs2687636 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:29132212A>G ENST00000409850.1 - 10 1189 CPVL_ENST00000396276.3_Intron|CPVL_ENST00000265394.5_Intron Q9H3G5 CPVL_HUMAN carboxypeptidase, vitellogenic-like NA NA extracellular vesicular exosome (GO:0070062) serine-type carboxypeptidase activity (GO:0004185) NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1) 28 GTCTTAGGAAAGCCAAGAGAA 0.368 NA G||| 3497 0.698283 0.9213 0.5202 5008 , , NA 18859 0.8571 NA 0.4821 False NA ,,, NA NA NA 2504 0.5818 NA NA NA NA 0 G , 3700,706 1560,580,63 57 48 51 , -1 0 7 dbSNP_100 51 4169,4431 1038,2093,1169 no intron,intron CPVL NM_019029.2,NM_031311.3 , 2598,2673,1232 GG,GA,AA 48.4767,16.0236,39.4972 , , 29132212 7869,5137 2203 4300 6503 SO:0001627 intron_variant AF106704 CCDS5419.1 7p15.1 2012-02-10 ENSG00000106066 ENSG00000106066 54504 14399 protein-coding gene gene with protein product carboxypeptidase WUG, vitellogenic carboxypeptidase-like protein, CP-Mac carboxypeptidase 609780 NA 11401439 Standard NM_019029 XM_005249786 NA Approved uc003szw.3 Q9H3G5 OTTHUMG00000023669 ENST00000409850.1:c.542+26T>C chr7.hg19:g.29132212A>G NA A4D1A4|Q6UX20|Q8NBL7|Q96AR7|Q9HB41 hg19 CCDS5419.1 0.02 13.959251 GAAxGCC COVERED NOVEL CPVL-009 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000328305.1 0 20.764526 KEEP 0 0 0 69 2255 AA 1 1 0 - 15 60 569 0 0 38.111618 289 60 10613 452 ENST00000409850.1 0.049342 1 CHN2 1124 __UNKNOWN__ __UNKNOWN__ 7 29552983 29552983 __UNKNOWN__ 3'UTR SNP T T C rs1059185 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:29552983T>C ENST00000222792.6 + 0 2569 CHN2_ENST00000409041.4_3'UTR|CHN2_ENST00000435288.2_3'UTR NM_004067.2 NP_004058.1 P52757 CHIO_HUMAN chimerin 2 NA NA positive regulation of GTPase activity (GO:0043547)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829)|membrane (GO:0016020) GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070) breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2) 23 CTGCTTTGGATAGTTTTTGCT 0.378 NA T||| 1637 0.326877 0.5091 0.3386 5008 , , NA 20420 0.2381 NA 0.2704 False NA ,,, NA NA NA 2504 0.2219 NA NA NA Ovarian(1;44 48 13232 18918 31480) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L29126 CCDS5420.1 7p15.3 2013-02-14 2012-10-17 ENSG00000106069 ENSG00000106069 1124 Rho GTPase activating proteins, SH2 domain containing 1944 protein-coding gene gene with protein product beta chimerin, chimaerin 2 602857 chimerin (chimaerin) 2 NA 8175705 Standard NM_004067 XM_005249602 NA Approved ARHGAP3, RhoGAP3 uc003szz.3 P52757 OTTHUMG00000023063 ENST00000222792.6:c.*632T>C chr7.hg19:g.29552983T>C NA A4D1A2|B3VCF1|B3VCF2|B3VCF3|B3VCF7|B3VCG1|C9J7B0|E9PGE0|F8QPL9|Q2M203|Q75MM2 hg19 CCDS5420.1 0.02 12.518172 GGAxAGT COVERED NOVEL CHN2-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000214228.2 2 10.524123 KEEP 0 0 0 35 1070 TT 0.999999 0.999999 0 + 12 60 445 0 0 29.390997 241 60 8627 324 ENST00000222792.6 0.047431 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 29771597 29771597 __UNKNOWN__ IGR SNP A A C rs850084 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:29771597A>C NA NA AC007276.5 (43738 upstream) : WIPF3 (74504 downstream) NA NA NA CTACAATGGCAAGCGTGAAGC 0.398 NA A||| 1574 0.314297 0.264 0.4164 5008 , , NA 17057 0.3145 NA 0.2644 False NA ,,, NA NA NA 2504 0.3609 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.29771597A>C NA hg19 0.02 10.670318 GGCxAGC COVERED NOVEL 0 1 13.943523 KEEP 0 3 108 84 2516 AA 1 1 0 10 60 357 0 0 21.565226 282 70 9956 525 0.034247 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 29781927 29781927 __UNKNOWN__ IGR SNP T T A rs850098 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:29781927T>A NA NA AC007276.5 (54068 upstream) : WIPF3 (64174 downstream) NA NA NA AAACTACCCATTACACTATGG 0.373 NA T||| 1932 0.385783 0.4334 0.487 5008 , , NA 17167 0.3313 NA 0.2903 False NA ,,, NA NA NA 2504 0.4039 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.29781927T>A NA hg19 0.02 37.784594 CCAxTAC COVERED NOVEL 0 6 24.807922 KEEP 0 1 30 93 2939 TT 1 1 0 27 60 1011 0 0 61.95156 828 60 30377 1135 0.031579 1 WIPF3 644150 __UNKNOWN__ __UNKNOWN__ 7 29945358 29945358 __UNKNOWN__ Intron SNP C C G rs185340503 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:29945358C>G ENST00000409290.1 + 7 1428 WIPF3_ENST00000409123.1_3'UTR|WIPF3_ENST00000242140.5_3'UTR NM_001080529.2 NP_001073998.2 A6NGB9 WIPF3_HUMAN WAS/WASL interacting protein family, member 3 NA NA cell differentiation (GO:0030154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283) cytosol (GO:0005829) breast(2)|large_intestine(3)|lung(6)|ovary(1) 12 tgcacctcctcttattgttgt 0.468 NA C||| 4 0.000798722 0.0 0.0 5008 , , NA 18682 0.004 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK094250 CCDS56472.1 7p15.1 2006-10-12 ENSG00000122574 ENSG00000122574 644150 22004 protein-coding gene gene with protein product 612432 NA Standard NM_001080529 NA Approved CR16, FLJ36931 uc022aaz.1 A6NGB9 OTTHUMG00000152761 ENST00000409290.1:c.1428+1380C>G chr7.hg19:g.29945358C>G NA B8ZZV2 hg19 CCDS56472.1 0.02 2.303216 CCTxTTA COVERED NOVEL WIPF3-002 NOVEL basic|appris_candidate_longest|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000327705.1 0 7.524234 KEEP 0 0 0 25 870 CC 0.999931 0.998924 0 + 7 60 265 0 0 19.614289 71 60 2660 120 ENST00000409290.1 0.089744 0.998993 WIPF3 644150 __UNKNOWN__ __UNKNOWN__ 7 29955558 29955558 __UNKNOWN__ 3'UTR SNP A A G rs10225667 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:29955558A>G ENST00000409290.1 + 0 2878 NM_001080529.2 NP_001073998.2 A6NGB9 WIPF3_HUMAN WAS/WASL interacting protein family, member 3 NA NA cell differentiation (GO:0030154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283) cytosol (GO:0005829) breast(2)|large_intestine(3)|lung(6)|ovary(1) 12 GAAGTATATCATGAACAGACC 0.512 NA G||| 1515 0.302516 0.4304 0.2637 5008 , , NA 19279 0.1567 NA 0.339 False NA ,,, NA NA NA 2504 0.2699 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK094250 CCDS56472.1 7p15.1 2006-10-12 ENSG00000122574 ENSG00000122574 644150 22004 protein-coding gene gene with protein product 612432 NA Standard NM_001080529 NA Approved CR16, FLJ36931 uc022aaz.1 A6NGB9 OTTHUMG00000152761 ENST00000409290.1:c.*1426A>G chr7.hg19:g.29955558A>G NA B8ZZV2 hg19 CCDS56472.1 0.02 8.304888 ATCxTGA COVERED NOVEL WIPF3-002 NOVEL basic|appris_candidate_longest|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000327705.1 5 19.860352 KEEP 0 0 0 66 2084 AA 1 1 0 + 7 60 248 0 0 14.651008 215 60 7818 351 ENST00000409290.1 0.031532 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 29959679 29959679 __UNKNOWN__ IGR SNP C C T rs17158473 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:29959679C>T NA NA WIPF3 (2997 upstream) : SCRN1 (39 downstream) NA NA NA CTGAGGCCCACGTTTATTCAC 0.368 NA C||| 323 0.0644968 0.084 0.0432 5008 , , NA 18002 0.0635 NA 0.0358 False NA ,,, NA NA NA 2504 0.0838 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.29959679C>T NA hg19 0.02 6.064799 CCAxGTT COVERED NOVEL 0 0 4.149248 KEEP 0 1 35 26 899 CC 0.999988 0.999988 0 6 60 220 0 0 13.58001 165 60 5950 218 0.035088 1 SCRN1 9805 __UNKNOWN__ __UNKNOWN__ 7 29961298 29961298 __UNKNOWN__ 3'UTR SNP G G C rs17158481 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:29961298G>C ENST00000426154.1 - 0 3696 SCRN1_ENST00000242059.5_3'UTR NM_001145513.1 NP_001138985.1 Q12765 SCRN1_HUMAN secernin 1 NA NA exocytosis (GO:0006887) cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634) dipeptidase activity (GO:0016805) breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2) 25 CTCTCAATTAGGGTTGCCTTC 0.453 NA C||| 323 0.0644968 0.084 0.0432 5008 , , NA 21283 0.0635 NA 0.0358 False NA ,,, NA NA NA 2504 0.0838 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D83777 CCDS5422.1, CCDS47567.1, CCDS47568.1 7p14.3-p14.1 2006-09-06 ENSG00000136193 ENSG00000136193 9805 22192 protein-coding gene gene with protein product 614965 NA 12221138 Standard NM_014766 NM_014766 NA Approved KIAA0193 uc011kaa.2 Q12765 OTTHUMG00000097093 ENST00000426154.1:c.*2275C>G chr7.hg19:g.29961298G>C NA A8K0E9|B4DHM0|B4DIP5|C9JPG0|Q25QX7|Q8IWD1 hg19 CCDS5422.1 0.02 3.465024 TTAxGGT COVERED NOVEL SCRN1-202 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000214231.2 0 7.825205 KEEP 0 0 0 26 910 GG 0.999957 0.999956 0 - 6 60 200 0 0 12.375743 121 60 4461 180 ENST00000426154.1 0.047244 1 SCRN1 9805 __UNKNOWN__ __UNKNOWN__ 7 29961659 29961659 __UNKNOWN__ 3'UTR SNP C C G rs2269978 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:29961659C>G ENST00000426154.1 - 0 3335 SCRN1_ENST00000242059.5_3'UTR NM_001145513.1 NP_001138985.1 Q12765 SCRN1_HUMAN secernin 1 NA NA exocytosis (GO:0006887) cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634) dipeptidase activity (GO:0016805) breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2) 25 CTCACTTTCCCCCCCCCTTAA 0.473 NA -||| 1493 0.298123 0.4175 0.2651 5008 , , NA 18486 0.1558 NA 0.339 False NA ,,, NA NA NA 2504 0.2648 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D83777 CCDS5422.1, CCDS47567.1, CCDS47568.1 7p14.3-p14.1 2006-09-06 ENSG00000136193 ENSG00000136193 9805 22192 protein-coding gene gene with protein product 614965 NA 12221138 Standard NM_014766 NM_014766 NA Approved KIAA0193 uc011kaa.2 Q12765 OTTHUMG00000097093 ENST00000426154.1:c.*1914G>C chr7.hg19:g.29961659C>G NA A8K0E9|B4DHM0|B4DIP5|C9JPG0|Q25QX7|Q8IWD1 hg19 CCDS5422.1 0.02 4.529354 TCCxCCC COVERED NOVEL SCRN1-202 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000214231.2 1 12.640389 KEEP 0 0 0 42 1449 CC 1 1 0 - 6 60 217 1 0 13.793729 135 60 4847 216 ENST00000426154.1 0.042553 1 SCRN1 9805 __UNKNOWN__ __UNKNOWN__ 7 29961884 29961884 __UNKNOWN__ 3'UTR SNP C C G rs2269977 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:29961884C>G ENST00000426154.1 - 0 3110 SCRN1_ENST00000242059.5_3'UTR NM_001145513.1 NP_001138985.1 Q12765 SCRN1_HUMAN secernin 1 NA NA exocytosis (GO:0006887) cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634) dipeptidase activity (GO:0016805) breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2) 25 AAACTGCTGACTAAAAAGCTC 0.398 NA G||| 1494 0.298323 0.4183 0.2651 5008 , , NA 21047 0.1558 NA 0.339 False NA ,,, NA NA NA 2504 0.2648 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D83777 CCDS5422.1, CCDS47567.1, CCDS47568.1 7p14.3-p14.1 2006-09-06 ENSG00000136193 ENSG00000136193 9805 22192 protein-coding gene gene with protein product 614965 NA 12221138 Standard NM_014766 NM_014766 NA Approved KIAA0193 uc011kaa.2 Q12765 OTTHUMG00000097093 ENST00000426154.1:c.*1689G>C chr7.hg19:g.29961884C>G NA A8K0E9|B4DHM0|B4DIP5|C9JPG0|Q25QX7|Q8IWD1 hg19 CCDS5422.1 0.02 4.461029 TGAxTAA COVERED NOVEL SCRN1-202 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000214231.2 0 14.447569 KEEP 0 0 0 48 1760 CC 1 1 0 - 8 60 304 0 0 21.251346 119 60 4426 202 ENST00000426154.1 0.062992 1 SCRN1 9805 __UNKNOWN__ __UNKNOWN__ 7 29962282 29962282 __UNKNOWN__ 3'UTR SNP G G C rs2269976 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:29962282G>C ENST00000426154.1 - 0 2712 SCRN1_ENST00000242059.5_3'UTR NM_001145513.1 NP_001138985.1 Q12765 SCRN1_HUMAN secernin 1 NA NA exocytosis (GO:0006887) cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634) dipeptidase activity (GO:0016805) breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2) 25 GGCAGCTCCTGGGACATGTGA 0.577 NA G||| 1497 0.298922 0.4183 0.2651 5008 , , NA 20077 0.1587 NA 0.339 False NA ,,, NA NA NA 2504 0.2648 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D83777 CCDS5422.1, CCDS47567.1, CCDS47568.1 7p14.3-p14.1 2006-09-06 ENSG00000136193 ENSG00000136193 9805 22192 protein-coding gene gene with protein product 614965 NA 12221138 Standard NM_014766 NM_014766 NA Approved KIAA0193 uc011kaa.2 Q12765 OTTHUMG00000097093 ENST00000426154.1:c.*1291C>G chr7.hg19:g.29962282G>C NA A8K0E9|B4DHM0|B4DIP5|C9JPG0|Q25QX7|Q8IWD1 hg19 CCDS5422.1 0.02 8.38998 CCTxGGA COVERED NOVEL SCRN1-202 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000214231.2 1 15.651171 KEEP 0 0 0 52 1847 GG 1 1 0 - 8 60 275 0 0 16.725 193 60 7357 296 ENST00000426154.1 0.039801 1 SCRN1 9805 __UNKNOWN__ __UNKNOWN__ 7 29962934 29962934 __UNKNOWN__ 3'UTR SNP C C T rs6976789 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:29962934C>T ENST00000426154.1 - 0 2060 SCRN1_ENST00000242059.5_3'UTR NM_001145513.1 NP_001138985.1 Q12765 SCRN1_HUMAN secernin 1 NA NA exocytosis (GO:0006887) cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634) dipeptidase activity (GO:0016805) breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2) 25 ATAAGCACAGCGCATGGAAAA 0.512 NA T||| 1494 0.298323 0.4191 0.2637 5008 , , NA 21594 0.1558 NA 0.338 False NA ,,, NA NA NA 2504 0.2658 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D83777 CCDS5422.1, CCDS47567.1, CCDS47568.1 7p14.3-p14.1 2006-09-06 ENSG00000136193 ENSG00000136193 9805 22192 protein-coding gene gene with protein product 614965 NA 12221138 Standard NM_014766 NM_014766 NA Approved KIAA0193 uc011kaa.2 Q12765 OTTHUMG00000097093 ENST00000426154.1:c.*639G>A chr7.hg19:g.29962934C>T NA A8K0E9|B4DHM0|B4DIP5|C9JPG0|Q25QX7|Q8IWD1 hg19 CCDS5422.1 0.02 8.493176 CAGxGCA COVERED NOVEL SCRN1-202 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000214231.2 3 13.542819 KEEP 0 0 0 45 1552 CC 1 1 0 - 9 60 316 0 0 19.732694 203 60 7107 314 ENST00000426154.1 0.042453 1 SCRN1 9805 __UNKNOWN__ __UNKNOWN__ 7 29980471 29980471 __UNKNOWN__ Missense_Mutation SNP C C T rs35960711 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:29980471C>T ENST00000426154.1 - 5 742 c.566G>A c.(565-567)aGt>aAt p.S189N SCRN1_ENST00000425819.2_Missense_Mutation_p.S121N|SCRN1_ENST00000434476.2_Missense_Mutation_p.S209N|SCRN1_ENST00000416113.2_Intron|SCRN1_ENST00000409497.1_Missense_Mutation_p.S189N|SCRN1_ENST00000242059.5_Missense_Mutation_p.S189N NM_001145513.1 NP_001138985.1 Q12765 SCRN1_HUMAN secernin 1 189 NA S -> N (in dbSNP:rs35960711). exocytosis (GO:0006887) cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634) dipeptidase activity (GO:0016805) breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2) 25 CGAAAGCTGACTGCAAATGCA 0.453 NA T||| 345 0.0688898 0.1029 0.0432 5008 , , NA 18985 0.0645 NA 0.0388 False NA ,,, NA NA NA 2504 0.0767 NA NA NA NA 0 T ASN/SER,ASN/SER,ASN/SER,ASN/SER 456,3950 783.9+/-414.7 17,422,1764 115 115 115 566,626,362,566 3 0.8 7 dbSNP_126 115 353,8247 803.4+/-407.3 7,339,3954 yes missense,missense,missense,missense SCRN1 NM_001145513.1,NM_001145514.1,NM_001145515.1,NM_014766.4 46,46,46,46 24,761,5718 TT,TC,CC 4.1047,10.3495,6.2202 benign,benign,benign,benign 189/415,209/435,121/347,189/415 29980471 809,12197 2203 4300 6503 SO:0001583 missense D83777 CCDS5422.1, CCDS47567.1, CCDS47568.1 7p14.3-p14.1 2006-09-06 ENSG00000136193 ENSG00000136193 9805 22192 protein-coding gene gene with protein product 614965 NA 12221138 Standard NM_014766 NM_014766 NA Approved KIAA0193 uc011kaa.2 Q12765 OTTHUMG00000097093 ENST00000426154.1:c.566G>A chr7.hg19:g.29980471C>T ENSP00000409068:p.Ser189Asn NA A8K0E9|B4DHM0|B4DIP5|C9JPG0|Q25QX7|Q8IWD1 hg19 CCDS5422.1 0.02 5.460788 TGAxTGC COVERED 133 0.060897435897435896 36 0.07317073170731707 16 0.04419889502762431 51 0.08916083916083917 30 0.0395778364116095 T 3.443 -0.113555 0.06881 0.103495 0.041047 ENSG00000136193 ENST00000242059;ENST00000426154;ENST00000425819;ENST00000409497;ENST00000434476;ENST00000421434 T;T;T;T;T;T 0.22743 1.94;1.94;1.94;1.94;1.94;1.94 5.58 3.05 0.35203 . 0.145037 0.46758 N 0.000263 T 0.00073 0.0002 N 0.00003 -3.405 0.80722 D 1 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.30937 -0.9961 9 . . . -15.3602 6.1577 0.20346 0.0:0.1478:0.1352:0.717 rs35960711 209;189 C9JPG0;Q12765 .;SCRN1_HUMAN N 189;189;121;189;209;189 ENSP00000242059:S189N;ENSP00000409068:S189N;ENSP00000414245:S121N;ENSP00000386872:S189N;ENSP00000388942:S209N;ENSP00000413184:S189N . S - 2 0 SCRN1 29946996 1.000000 0.71417 0.756000 0.31282 0.734000 0.41952 2.621000 0.46418 0.395000 0.25257 -0.332000 0.08345 AGT NOVEL SCRN1-202 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000214231.2 1 7.223347 KEEP 0 0 0 24 847 CC 0.999909 0.999909 0 - 6 60 212 0 0 12.601454 177 60 6728 233 ENST00000426154.1 0.032787 1 C7orf41 0 __UNKNOWN__ __UNKNOWN__ 7 30200062 30200062 __UNKNOWN__ 3'UTR SNP T T C rs189304848 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:30200062T>C ENST00000324453.8 + 0 3621 C7orf41_ENST00000324489.5_3'UTR NM_152793.2 NP_690006.2 Q8N3F0 MTURN_HUMAN NA NA multicellular organismal development (GO:0007275) NS(1)|large_intestine(2) 3 GTGGTGTATGTTTAACTTACC 0.468 NA T||| 18 0.00359425 0.0 0.0 5008 , , NA 21420 0.0179 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant NA NA NA NA ENST00000324453.8:c.*2898T>C chr7.hg19:g.30200062T>C NA B8ZZW9|Q8N791|Q8N8M4|Q8NEX2 hg19 CCDS5425.2 0.02 11.783419 ATGxTTA COVERED NOVEL C7orf41-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250409.1 3 14.735639 KEEP 0 0 0 49 1509 TT 1 1 0 + 13 60 500 0 0 33.859651 244 60 8704 351 ENST00000324453.8 0.050584 1 NOD1 10392 __UNKNOWN__ __UNKNOWN__ 7 30491311 30491311 __UNKNOWN__ Silent SNP C C T rs2075821 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:30491311C>T ENST00000222823.4 - 6 2247 c.1722G>A c.(1720-1722)gcG>gcA p.A574A NM_006092.2 NP_006083.1 Q9Y239 NOD1_HUMAN nucleotide-binding oligomerization domain containing 1 574 NA activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666) basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829) ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803) breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2) 39 GGTCTTCCCGCGCCGGACCAC 0.602 NA C||| 1589 0.317292 0.3321 0.1643 5008 , , NA 18471 0.3849 NA 0.2366 False NA ,,, NA NA NA 2504 0.4192 NA NA NA NA 0 C 1429,2977 459.6+/-352.3 242,945,1016 54 60 58 1722 -10.6 0 7 dbSNP_96 58 2227,6373 377.2+/-338.5 318,1591,2391 no coding-synonymous NOD1 NM_006092.2 560,2536,3407 TT,TC,CC 25.8953,32.433,28.1101 574/954 30491311 3656,9350 2203 4300 6503 SO:0001819 synonymous_variant AF126484 CCDS5427.1 7p15-p14 2006-12-08 2006-12-08 2006-12-08 ENSG00000106100 ENSG00000106100 10392 Nucleotide-binding domain and leucine rich repeat containing 16390 protein-coding gene gene with protein product nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1, NLR family, CARD domain containing 1 605980 caspase recruitment domain family, member 4 CARD4 NA 10224040, 10329646 Standard NM_006092 NA Approved NLRC1, CLR7.1 uc003tav.3 Q9Y239 OTTHUMG00000023923 ENST00000222823.4:c.1722G>A chr7.hg19:g.30491311C>T NA B4DTU3|Q549U4|Q8IWF5 hg19 CCDS5427.1 0.02 12.19556 CCGxGCC COVERED NOVEL NOD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250443.2 3 21.368252 KEEP 0 0 0 71 2452 CC 1 1 0 - 11 60 397 0 0 23.789006 335 60 11584 505 ENST00000222823.4 0.031792 1 NOD1 10392 __UNKNOWN__ __UNKNOWN__ 7 30492237 30492237 __UNKNOWN__ Missense_Mutation SNP C C T rs2075820|rs398087981 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:30492237C>T ENST00000222823.4 - 6 1321 c.796G>A c.(796-798)Gag>Aag p.E266K NOD1_ENST00000423334.2_Silent_p.P220P NM_006092.2 NP_006083.1 Q9Y239 NOD1_HUMAN nucleotide-binding oligomerization domain containing 1 266 NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}. NA E -> K (in dbSNP:rs2075820). activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666) basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829) ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803) breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2) 39 AACACCTCCTCGGGGTCCCGC 0.617 NA C||| 1690 0.33746 0.4032 0.1758 5008 , , NA 18812 0.3869 NA 0.2326 False NA ,,, NA NA NA 2504 0.4202 NA NA NA NA 0 GRCh37 CM076359 NOD1 M rs2075820 C LYS/GLU 1670,2736 488.3+/-361.2 321,1028,854 69 67 68 796 5.5 0.8 7 dbSNP_96 68 2110,6490 351.5+/-328.3 282,1546,2472 yes missense NOD1 NM_006092.2 56 603,2574,3326 TT,TC,CC 24.5349,37.9029,29.0635 benign 266/954 30492237 3780,9226 2203 4300 6503 SO:0001583 missense AF126484 CCDS5427.1 7p15-p14 2006-12-08 2006-12-08 2006-12-08 ENSG00000106100 ENSG00000106100 10392 Nucleotide-binding domain and leucine rich repeat containing 16390 protein-coding gene gene with protein product nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1, NLR family, CARD domain containing 1 605980 caspase recruitment domain family, member 4 CARD4 NA 10224040, 10329646 Standard NM_006092 NA Approved NLRC1, CLR7.1 uc003tav.3 Q9Y239 OTTHUMG00000023923 ENST00000222823.4:c.796G>A chr7.hg19:g.30492237C>T ENSP00000222823:p.Glu266Lys NA B4DTU3|Q549U4|Q8IWF5 hg19 CCDS5427.1 0.02 8.560463 CCTxGGG COVERED 649 0.29716117216117216 195 0.39634146341463417 76 0.20994475138121546 209 0.36538461538461536 169 0.22295514511873352 C 16.00 2.999294 0.54147 0.379029 0.245349 ENSG00000106100 ENST00000222823 T 0.79033 -1.23 5.54 5.54 0.83059 NACHT nucleoside triphosphatase (1); 0.640387 0.17056 N 0.188744 T 0.00012 0.0000 L 0.54323 1.7 0.09310 P 0.9999999847827 P 0.47545 0.897 B 0.38156 0.266 T 0.36237 -0.9756 9 0.26408 T 0.33 . 11.8004 0.52124 0.0:0.9113:0.0:0.0887 rs2075820;rs60510801;rs2075820 266 Q9Y239 NOD1_HUMAN K 266 ENSP00000222823:E266K ENSP00000222823:E266K E - 1 0 NOD1 30458762 0.667000 0.27484 0.795000 0.32087 0.978000 0.69477 2.119000 0.41958 2.602000 0.87976 0.563000 0.77884 GAG NOVEL NOD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250443.2 1 15.649136 KEEP 0 0 0 52 1742 CC 1 1 0 - 11 60 402 0 0 26.335438 216 60 7734 337 ENST00000222823.4 0.048458 1 NOD1 10392 __UNKNOWN__ __UNKNOWN__ 7 30492550 30492550 __UNKNOWN__ Silent SNP G G A rs2235099|rs72551114 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:30492550G>A ENST00000222823.4 - 6 1008 c.483C>T c.(481-483)gaC>gaT p.D161D NOD1_ENST00000423334.2_Silent_p.D161D NM_006092.2 NP_006083.1 Q9Y239 NOD1_HUMAN nucleotide-binding oligomerization domain containing 1 161 NA activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666) basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829) ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803) breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2) 39 CCATGATGGTGTCCATGTAGA 0.597 NA G||| 1693 0.338059 0.4024 0.1758 5008 , , NA 19153 0.3869 NA 0.2326 False NA ,,, NA NA NA 2504 0.4243 NA NA NA NA 0 G 1679,2727 510.4+/-367.5 323,1033,847 119 99 106 483 2.5 1 7 dbSNP_98 106 2119,6481 365.1+/-333.8 281,1557,2462 no coding-synonymous NOD1 NM_006092.2 604,2590,3309 AA,AG,GG 24.6395,38.1071,29.2019 161/954 30492550 3798,9208 2203 4300 6503 SO:0001819 synonymous_variant AF126484 CCDS5427.1 7p15-p14 2006-12-08 2006-12-08 2006-12-08 ENSG00000106100 ENSG00000106100 10392 Nucleotide-binding domain and leucine rich repeat containing 16390 protein-coding gene gene with protein product nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1, NLR family, CARD domain containing 1 605980 caspase recruitment domain family, member 4 CARD4 NA 10224040, 10329646 Standard NM_006092 NA Approved NLRC1, CLR7.1 uc003tav.3 Q9Y239 OTTHUMG00000023923 ENST00000222823.4:c.483C>T chr7.hg19:g.30492550G>A NA B4DTU3|Q549U4|Q8IWF5 hg19 CCDS5427.1 0.02 10.776708 GGTxTCC COVERED NOVEL NOD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250443.2 1 17.456948 KEEP 0 0 0 58 2083 GG 1 1 0 - 9 60 323 0 0 19.652457 249 60 9314 412 ENST00000222823.4 0.034884 1 GGCT 79017 __UNKNOWN__ __UNKNOWN__ 7 30536611 30536611 __UNKNOWN__ 3'UTR SNP T T C rs4270 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:30536611T>C ENST00000409144.1 - 0 473 GGCT_ENST00000275428.4_3'UTR|GGCT_ENST00000005374.6_3'UTR NM_001199817.1 NP_001186746.1 O75223 GGCT_HUMAN gamma-glutamylcyclotransferase NA NA glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|release of cytochrome c from mitochondria (GO:0001836)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) gamma-glutamylcyclotransferase activity (GO:0003839)|protein homodimerization activity (GO:0042803) endometrium(2)|kidney(1)|large_intestine(2)|lung(3) 8 CTGCTGAAAATGGATCAAACG 0.353 NA T||| 1484 0.296326 0.3079 0.1859 5008 , , NA 18968 0.4306 NA 0.2058 False NA ,,, NA NA NA 2504 0.3139 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC019243 CCDS5428.1, CCDS56474.1, CCDS56475.1, CCDS56476.1 7p15-p14 2010-04-23 2010-04-23 2008-08-04 ENSG00000006625 ENSG00000006625 79017 2.3.2.4 21705 protein-coding gene gene with protein product 137170 chromosome 7 open reading frame 24 C7orf24, GCTG NA 17932939, 18515354 Standard NM_024051 NM_024051 NA Approved MGC3077, CRF21, Ggc uc003tba.3 O75223 OTTHUMG00000128593 ENST00000409144.1:c.*97A>G chr7.hg19:g.30536611T>C NA B2RDN0|B8ZZN4|B8ZZR8|Q9BS37 hg19 CCDS56474.1 0.02 4.235818 AAAxGGA COVERED NOVEL GGCT-004 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000327990.1 0 5.416257 KEEP 0 0 0 18 571 TT 0.999859 0.999859 0 - 8 60 275 1 0 18.274391 122 60 4428 166 ENST00000409144.1 0.061538 1 GARS 2617 __UNKNOWN__ __UNKNOWN__ 7 30666614 30666614 __UNKNOWN__ Intron SNP T T A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:30666614T>A ENST00000389266.3 + 13 1940 NM_002047.2 NP_002038.2 P41250 SYG_HUMAN glycyl-tRNA synthetase NA NA cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|glycyl-tRNA aminoacylation (GO:0006426)|tRNA aminoacylation for protein translation (GO:0006418) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|secretory granule (GO:0030141) ATP binding (GO:0005524)|glycine-tRNA ligase activity (GO:0004820)|protein dimerization activity (GO:0046983) breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1) 24 Glycine(DB00145) aaaaaaaaaGTAATTTAGACC 0.413 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK074524 CCDS43564.1 7p15 2014-09-17 2004-02-13 ENSG00000106105 ENSG00000106105 2617 6.1.1.14 Aminoacyl tRNA synthetases / Class II 4162 protein-coding gene gene with protein product glycine tRNA ligase 600287 Charcot-Marie-Tooth neuropathy 2D CMT2D NA 8595897, 8872480 Standard NM_002047 NM_002047 NA Approved GlyRS, DSMAV, SMAD1 uc003tbm.3 P41250 OTTHUMG00000152769 ENST00000389266.3:c.1699+679T>A chr7.hg19:g.30666614T>A NA B3KQA2|B4DIA0|Q969Y1 hg19 CCDS43564.1 0.02 0.495143 AAGxAAT COVERED NOVEL GARS-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000327735.1 1 2.366615 KEEP 0 1 8 11 244 TT 0.993634 0.991545 0 + 21 60 169 1 0 7.611397 52 70 1359 92 ENST00000389266.3 0.287671 0.997898 CRHR2 1395 __UNKNOWN__ __UNKNOWN__ 7 30728452 30728452 __UNKNOWN__ 5'UTR SNP C C T rs917195 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:30728452C>T ENST00000462882.1 - 0 452 CRHR2_ENST00000348438.4_Intron Q13324 CRFR2_HUMAN corticotropin releasing hormone receptor 2 NA NA adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|positive regulation of cAMP-mediated signaling (GO:0043950) cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) corticotrophin-releasing factor receptor activity (GO:0015056) breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 CCTGTAGCCACGGCAACCAGA 0.567 NA c||| 2000 0.399361 0.8359 0.3026 5008 , , NA 20549 0.1825 NA 0.2336 False NA ,,, NA NA NA 2504 0.272 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant CCDS5429.1, CCDS56477.1, CCDS56478.1, CCDS75576.1 7p21-p15 2012-08-10 ENSG00000106113 ENSG00000106113 1395 GPCR / Class B : Corticotropin-releasing factor receptors 2358 protein-coding gene gene with protein product 602034 NA 8536644 Standard NM_001883 NA Approved CRF2, CRF-RB, HM-CRF uc003tbp.3 Q13324 OTTHUMG00000023218 ENST00000462882.1:c.-231G>A chr7.hg19:g.30728452C>T NA B2R967|B3SXS6|B3SXS7|B3SXS8|B3SXT0|F8WA81|O43461|Q4QRJ4|Q99431 hg19 0.02 12.836412 CCAxGGC COVERED NOVEL CRHR2-004 KNOWN basic processed_transcript NA protein_coding OTTHUMT00000327787.1 1 13.844546 KEEP 0 0 0 46 1591 CC 1 1 0 - 10 60 364 0 0 22.042059 297 60 10522 435 ENST00000462882.1 0.032573 1 CRHR2 1395 __UNKNOWN__ __UNKNOWN__ 7 30728472 30728472 __UNKNOWN__ 5'UTR SNP C C G rs917196 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:30728472C>G ENST00000462882.1 - 0 432 CRHR2_ENST00000348438.4_Intron Q13324 CRFR2_HUMAN corticotropin releasing hormone receptor 2 NA NA adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|positive regulation of cAMP-mediated signaling (GO:0043950) cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) corticotrophin-releasing factor receptor activity (GO:0015056) breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 AGAATGTTTACCACCTTCTGC 0.572 NA G||| 2081 0.415535 0.8601 0.3357 5008 , , NA 20659 0.1776 NA 0.2575 False NA ,,, NA NA NA 2504 0.2791 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant CCDS5429.1, CCDS56477.1, CCDS56478.1, CCDS75576.1 7p21-p15 2012-08-10 ENSG00000106113 ENSG00000106113 1395 GPCR / Class B : Corticotropin-releasing factor receptors 2358 protein-coding gene gene with protein product 602034 NA 8536644 Standard NM_001883 NA Approved CRF2, CRF-RB, HM-CRF uc003tbp.3 Q13324 OTTHUMG00000023218 ENST00000462882.1:c.-251G>C chr7.hg19:g.30728472C>G NA B2R967|B3SXS6|B3SXS7|B3SXS8|B3SXT0|F8WA81|O43461|Q4QRJ4|Q99431 hg19 0.02 12.566466 TTAxCAC COVERED NOVEL CRHR2-004 KNOWN basic processed_transcript NA protein_coding OTTHUMT00000327787.1 0 15.046746 KEEP 0 0 0 50 1751 CC 1 1 0 - 10 60 377 0 0 22.771861 339 60 12513 511 ENST00000462882.1 0.028653 1 CRHR2 1395 __UNKNOWN__ __UNKNOWN__ 7 30728557 30728557 __UNKNOWN__ 5'UTR SNP A A G rs58682124 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:30728557A>G ENST00000462882.1 - 0 347 CRHR2_ENST00000348438.4_Intron Q13324 CRFR2_HUMAN corticotropin releasing hormone receptor 2 NA NA adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|positive regulation of cAMP-mediated signaling (GO:0043950) cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) corticotrophin-releasing factor receptor activity (GO:0015056) breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 GCTGACTTCCATCGTGGGAGC 0.577 NA A||| 2081 0.415535 0.8601 0.3357 5008 , , NA 20412 0.1776 NA 0.2575 False NA ,,, NA NA NA 2504 0.2791 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant CCDS5429.1, CCDS56477.1, CCDS56478.1, CCDS75576.1 7p21-p15 2012-08-10 ENSG00000106113 ENSG00000106113 1395 GPCR / Class B : Corticotropin-releasing factor receptors 2358 protein-coding gene gene with protein product 602034 NA 8536644 Standard NM_001883 NA Approved CRF2, CRF-RB, HM-CRF uc003tbp.3 Q13324 OTTHUMG00000023218 ENST00000462882.1:c.-336T>C chr7.hg19:g.30728557A>G NA B2R967|B3SXS6|B3SXS7|B3SXS8|B3SXT0|F8WA81|O43461|Q4QRJ4|Q99431 hg19 0.02 10.480327 TCCxTCG COVERED NOVEL CRHR2-004 KNOWN basic processed_transcript NA protein_coding OTTHUMT00000327787.1 0 7.823406 KEEP 0 0 0 26 803 AA 0.999957 0.999957 0 - 8 60 298 0 0 17.98859 261 60 9418 357 ENST00000462882.1 0.02974 1 INMT-FAM188B 100526825 __UNKNOWN__ __UNKNOWN__ 7 30805920 30805920 __UNKNOWN__ Intron SNP G G C rs73085896 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:30805920G>C ENST00000458257.1 + 3 373 INMT-FAM188B readthrough (NMD candidate) NA NA NA CCAGTGTAAAGTCCATTGAAT 0.443 NA G||| 1184 0.236422 0.236 0.1282 5008 , , NA 17687 0.2877 NA 0.1769 False NA ,,, NA NA NA 2504 0.3221 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant 7p14.3 2013-05-09 2013-05-09 ENSG00000254959 ENSG00000254959 100526825 41995 other readthrough NA Standard NR_037598.1 NR_037598 NA Approved OTTHUMG00000022897 ENST00000458257.1:c.360-41G>C chr7.hg19:g.30805920G>C NA hg19 0.02 11.895347 AAAxTCC COVERED NOVEL INMT-FAM188B-001 KNOWN basic|appris_candidate_longest|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000393508.1 4 36.419042 KEEP 0 0 0 121 4347 GG 1 1 0 + 9 60 350 0 0 22.282004 253 60 9495 491 ENST00000458257.1 0.034351 1 FAM188B 84182 __UNKNOWN__ __UNKNOWN__ 7 30831144 30831144 __UNKNOWN__ Silent SNP C C T rs16875355 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:30831144C>T ENST00000265299.6 + 5 1104 c.1027C>T c.(1027-1029)Ctg>Ttg p.L343L INMT-FAM188B_ENST00000458257.1_3'UTR NM_032222.2 NP_115598.2 Q4G0A6 F188B_HUMAN family with sequence similarity 188, member B 343 NA endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CCAGGAGAGGCTGGAAAGAGC 0.577 NA C||| 769 0.153554 0.323 0.0591 5008 , , NA 19581 0.2054 NA 0.0209 False NA ,,, NA NA NA 2504 0.0746 NA NA NA NA 0 C 1052,3036 128,796,1120 40 50 47 1027 4.6 1 7 dbSNP_123 47 211,8197 4,203,3997 no coding-synonymous FAM188B NM_032222.2 132,999,5117 TT,TC,CC 2.5095,25.7339,10.1072 343/758 30831144 1263,11233 2044 4204 6248 SO:0001819 synonymous_variant AK026027 CCDS43565.1 7p14.3 2010-08-17 2009-07-14 2009-07-14 ENSG00000106125 ENSG00000106125 84182 21916 protein-coding gene gene with protein product chromosome 7 open reading frame 67 C7orf67 NA Standard NM_032222 NM_032222 NA Approved FLJ22374 uc003tbt.3 Q4G0A6 OTTHUMG00000152800 ENST00000265299.6:c.1027C>T chr7.hg19:g.30831144C>T NA Q71AZ7|Q9H6D2 hg19 CCDS43565.1 0.02 6.571861 AGGxTGG COVERED NOVEL FAM188B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000327962.1 0 11.733379 KEEP 0 0 0 39 1380 CC 1 1 0 + 14 60 514 0 0 37.118661 155 60 5936 262 ENST00000265299.6 0.08284 1 FAM188B 84182 __UNKNOWN__ __UNKNOWN__ 7 30897986 30897986 __UNKNOWN__ Intron SNP G G C rs28652685 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:30897986G>C ENST00000265299.6 + 13 1754 INMT-FAM188B_ENST00000458257.1_Intron|AQP1_ENST00000434909.2_Intron|AQP1_ENST00000509504.1_Intron NM_032222.2 NP_115598.2 Q4G0A6 F188B_HUMAN family with sequence similarity 188, member B NA NA endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 taggtgctgtgattattaccc 0.418 NA G||| 610 0.121805 0.2284 0.0375 5008 , , NA 16337 0.1786 NA 0.0199 False NA ,,, NA NA NA 2504 0.0838 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK026027 CCDS43565.1 7p14.3 2010-08-17 2009-07-14 2009-07-14 ENSG00000106125 ENSG00000106125 84182 21916 protein-coding gene gene with protein product chromosome 7 open reading frame 67 C7orf67 NA Standard NM_032222 NM_032222 NA Approved FLJ22374 uc003tbt.3 Q4G0A6 OTTHUMG00000152800 ENST00000265299.6:c.1678-887G>C chr7.hg19:g.30897986G>C NA Q71AZ7|Q9H6D2 hg19 CCDS43565.1 0.02 7.397227 TGTxATT COVERED NOVEL FAM188B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000327962.1 1 7.824832 KEEP 0 0 0 26 894 GG 0.999957 0.999957 0 + 11 60 427 0 0 30.340973 156 60 5894 214 ENST00000265299.6 0.065868 1 AQP1 358 __UNKNOWN__ __UNKNOWN__ 7 30963822 30963822 __UNKNOWN__ 3'UTR SNP G G C rs1049305 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:30963822G>C ENST00000311813.4 + 0 1443 AQP1_ENST00000441328.2_3'UTR NM_198098.2 NP_932766.1 P29972 AQP1_HUMAN aquaporin 1 (Colton blood group) NA NA ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|bicarbonate transport (GO:0015701)|camera-type eye morphogenesis (GO:0048593)|carbon dioxide transmembrane transport (GO:0035378)|carbon dioxide transport (GO:0015670)|cation transmembrane transport (GO:0098655)|cell volume homeostasis (GO:0006884)|cellular homeostasis (GO:0019725)|cellular hyperosmotic response (GO:0071474)|cellular response to cAMP (GO:0071320)|cellular response to copper ion (GO:0071280)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to inorganic substance (GO:0071241)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mercury ion (GO:0071288)|cellular response to nitric oxide (GO:0071732)|cellular response to retinoic acid (GO:0071300)|cellular response to salt stress (GO:0071472)|cellular response to stress (GO:0033554)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|cGMP biosynthetic process (GO:0006182)|corticotropin secretion (GO:0051458)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|glomerular filtration (GO:0003094)|glycerol transport (GO:0015793)|hyperosmotic salinity response (GO:0042538)|lateral ventricle development (GO:0021670)|lipid digestion (GO:0044241)|maintenance of symbiont-containing vacuole by host (GO:0085018)|metanephric descending thin limb development (GO:0072220)|metanephric glomerulus vasculature development (GO:0072239)|metanephric proximal convoluted tubule segment 2 development (GO:0072232)|metanephric proximal straight tubule development (GO:0072230)|multicellular organismal water homeostasis (GO:0050891)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|nitric oxide transport (GO:0030185)|odontogenesis (GO:0042476)|pancreatic juice secretion (GO:0030157)|positive regulation of angiogenesis (GO:0045766)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of saliva secretion (GO:0046878)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|renal water absorption (GO:0070295)|renal water transport (GO:0003097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|secretory granule organization (GO:0033363)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)|transepithelial water transport (GO:0035377)|transmembrane transport (GO:0055085)|water transport (GO:0006833)|wound healing (GO:0042060) apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|axon terminus (GO:0043679)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|symbiont-containing vacuole (GO:0020003) ammonium transmembrane transporter activity (GO:0008519)|carbon dioxide transmembrane transporter activity (GO:0035379)|glycerol transmembrane transporter activity (GO:0015168)|intracellular cGMP activated cation channel activity (GO:0005223)|nitric oxide transmembrane transporter activity (GO:0030184)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)|transmembrane transporter activity (GO:0022857)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372) kidney(1)|large_intestine(2)|lung(9) 12 Melanoma(862;0.16) Acetazolamide(DB00819) ATCAGGGCCTGAGTGACCTCC 0.587 NA C||| 2713 0.541733 0.9107 0.4597 5008 , , NA 21069 0.3938 NA 0.3897 False NA ,,, NA NA NA 2504 0.41 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M77829 CCDS5431.1, CCDS55096.1, CCDS55097.1, CCDS55098.1 7p14 2014-07-19 2014-01-02 ENSG00000240583 ENSG00000240583 358 Ion channels / Aquaporins, Blood group antigens 633 protein-coding gene gene with protein product 107776 Colton blood group, aquaporin 1 (channel-forming integral protein, 28kDa), aquaporin 1 (channel-forming integral protein, 28kDa, CO blood group), aquaporin 1 CO NA 1722319, 3166547 Standard NM_000385 NM_198098 NA Approved CHIP28 P29972 OTTHUMG00000023944 ENST00000311813.4:c.*578G>C chr7.hg19:g.30963822G>C NA B5BU39|E7EM69|E9PC21|F5GY19|Q8TBI5|Q8TDC1 hg19 CCDS5431.1 0.02 7.251243 CCTxAGT COVERED NOVEL AQP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000215002.3 0 6.613749 KEEP 0 0 0 22 750 GG 0.999879 0.999879 0 + 7 60 270 0 0 17.245401 188 60 7250 269 ENST00000311813.4 0.035897 1 AQP1 358 __UNKNOWN__ __UNKNOWN__ 7 30964145 30964145 __UNKNOWN__ 3'UTR SNP C C T rs11537661 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:30964145C>T ENST00000311813.4 + 0 1766 AQP1_ENST00000441328.2_3'UTR NM_198098.2 NP_932766.1 P29972 AQP1_HUMAN aquaporin 1 (Colton blood group) NA NA ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|bicarbonate transport (GO:0015701)|camera-type eye morphogenesis (GO:0048593)|carbon dioxide transmembrane transport (GO:0035378)|carbon dioxide transport (GO:0015670)|cation transmembrane transport (GO:0098655)|cell volume homeostasis (GO:0006884)|cellular homeostasis (GO:0019725)|cellular hyperosmotic response (GO:0071474)|cellular response to cAMP (GO:0071320)|cellular response to copper ion (GO:0071280)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to inorganic substance (GO:0071241)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mercury ion (GO:0071288)|cellular response to nitric oxide (GO:0071732)|cellular response to retinoic acid (GO:0071300)|cellular response to salt stress (GO:0071472)|cellular response to stress (GO:0033554)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|cGMP biosynthetic process (GO:0006182)|corticotropin secretion (GO:0051458)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|glomerular filtration (GO:0003094)|glycerol transport (GO:0015793)|hyperosmotic salinity response (GO:0042538)|lateral ventricle development (GO:0021670)|lipid digestion (GO:0044241)|maintenance of symbiont-containing vacuole by host (GO:0085018)|metanephric descending thin limb development (GO:0072220)|metanephric glomerulus vasculature development (GO:0072239)|metanephric proximal convoluted tubule segment 2 development (GO:0072232)|metanephric proximal straight tubule development (GO:0072230)|multicellular organismal water homeostasis (GO:0050891)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|nitric oxide transport (GO:0030185)|odontogenesis (GO:0042476)|pancreatic juice secretion (GO:0030157)|positive regulation of angiogenesis (GO:0045766)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of saliva secretion (GO:0046878)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|renal water absorption (GO:0070295)|renal water transport (GO:0003097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|secretory granule organization (GO:0033363)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)|transepithelial water transport (GO:0035377)|transmembrane transport (GO:0055085)|water transport (GO:0006833)|wound healing (GO:0042060) apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|axon terminus (GO:0043679)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|symbiont-containing vacuole (GO:0020003) ammonium transmembrane transporter activity (GO:0008519)|carbon dioxide transmembrane transporter activity (GO:0035379)|glycerol transmembrane transporter activity (GO:0015168)|intracellular cGMP activated cation channel activity (GO:0005223)|nitric oxide transmembrane transporter activity (GO:0030184)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)|transmembrane transporter activity (GO:0022857)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372) kidney(1)|large_intestine(2)|lung(9) 12 Melanoma(862;0.16) Acetazolamide(DB00819) ACCCATGTTACTTCTCTGAGT 0.438 NA C||| 858 0.171326 0.3094 0.0893 5008 , , NA 24088 0.2232 NA 0.0497 False NA ,,, NA NA NA 2504 0.1145 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M77829 CCDS5431.1, CCDS55096.1, CCDS55097.1, CCDS55098.1 7p14 2014-07-19 2014-01-02 ENSG00000240583 ENSG00000240583 358 Ion channels / Aquaporins, Blood group antigens 633 protein-coding gene gene with protein product 107776 Colton blood group, aquaporin 1 (channel-forming integral protein, 28kDa), aquaporin 1 (channel-forming integral protein, 28kDa, CO blood group), aquaporin 1 CO NA 1722319, 3166547 Standard NM_000385 NM_198098 NA Approved CHIP28 P29972 OTTHUMG00000023944 ENST00000311813.4:c.*901C>T chr7.hg19:g.30964145C>T NA B5BU39|E7EM69|E9PC21|F5GY19|Q8TBI5|Q8TDC1 hg19 CCDS5431.1 0.02 6.440358 TTAxTTC COVERED NOVEL AQP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000215002.3 0 3.0096 KEEP 0 0 0 10 338 CC 0.992708 0.992708 0 + 6 60 222 0 0 13.571914 179 60 6705 211 ENST00000311813.4 0.032432 1 GHRHR 2692 __UNKNOWN__ __UNKNOWN__ 7 31008686 31008686 __UNKNOWN__ Missense_Mutation SNP G G A rs4988496 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:31008686G>A ENST00000326139.2 + 3 215 c.169G>A c.(169-171)Gcg>Acg p.A57T NM_000823.3 NP_000814.2 Q02643 GHRHR_HUMAN growth hormone releasing hormone receptor 57 NA A -> T (in dbSNP:rs4988496). activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP-mediated signaling (GO:0019933)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|determination of adult lifespan (GO:0008340)|growth hormone secretion (GO:0030252)|hormone metabolic process (GO:0042445)|lactation (GO:0007595)|multicellular organismal reproductive process (GO:0048609)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of intracellular steroid hormone receptor signaling pathway (GO:0033143)|regulation of protein metabolic process (GO:0051246)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|somatotropin secreting cell development (GO:0060133)|water homeostasis (GO:0030104) cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nuclear matrix (GO:0016363)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)|secretory granule (GO:0030141) G-protein coupled receptor activity (GO:0004930)|growth factor binding (GO:0019838)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046) biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Sermorelin(DB00010)|Tesamorelin(DB08869) AGGCTGCCCTGCGACCTGGGA 0.612 NA A||| 638 0.127396 0.3427 0.049 5008 , , NA 17335 0.0615 NA 0.0616 False NA ,,, NA NA NA 2504 0.0276 NA NA NA NA 0 GRCh37 CM005494 GHRHR M rs4988496 A THR/ALA 1204,3198 167,870,1164 20 20 20 169 -7.8 0 7 dbSNP_113 20 492,8100 16,460,3820 yes missense GHRHR NM_000823.3 58 183,1330,4984 AA,AG,GG 5.7263,27.3512,13.0522 benign 57/424 31008686 1696,11298 2201 4296 6497 SO:0001583 missense CCDS5432.1 7p14 2012-08-10 ENSG00000106128 ENSG00000106128 2692 GPCR / Class B : Glucagon receptors 4266 protein-coding gene gene with protein product 139191 NA 7680413, 7514564 Standard NM_000823 NA Approved uc003tbx.3 Q02643 OTTHUMG00000152801 ENST00000326139.2:c.169G>A chr7.hg19:g.31008686G>A ENSP00000320180:p.Ala57Thr NA Q99863 hg19 CCDS5432.1 0.02 5.951665 CCTxCGA COVERED 255 0.11675824175824176 161 0.32723577235772355 17 0.04696132596685083 30 0.05244755244755245 47 0.06200527704485488 A 7.039 0.562074 0.13498 0.273512 0.057263 ENSG00000106128 ENST00000326139 T 0.63580 -0.05 4.64 -7.79 0.01218 GPCR, family 2, secretin-like, conserved site (1);GPCR, family 2, extracellular hormone receptor domain (3); . . . . T 0.00012 0.0000 N 0.03115 -0.41 0.80722 P 0.0 B 0.02656 0.0 B 0.04013 0.001 T 0.15492 -1.0435 8 0.37606 T 0.19 . 2.4739 0.04571 0.1537:0.2235:0.4024:0.2204 rs4988496;rs52803549;rs58388240;rs4988496 57 Q02643 GHRHR_HUMAN T 57 ENSP00000320180:A57T ENSP00000320180:A57T A + 1 0 GHRHR 30975211 0.000000 0.05858 0.000000 0.03702 0.350000 0.29205 -0.548000 0.06048 -2.403000 0.00577 -0.260000 0.10688 GCG NOVEL GHRHR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000327967.2 0 6.922788 KEEP 0 0 0 23 837 GG 0.999909 0.999909 0 + 12 60 414 0 0 27.874105 172 60 6473 248 ENST00000326139.2 0.065217 1 GHRHR 2692 __UNKNOWN__ __UNKNOWN__ 7 31013590 31013590 __UNKNOWN__ Intron SNP T T C rs35609199 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:31013590T>C ENST00000326139.2 + 7 643 GHRHR_ENST00000409316.1_Intron|GHRHR_ENST00000461424.1_Intron|GHRHR_ENST00000409904.3_Intron NM_000823.3 NP_000814.2 Q02643 GHRHR_HUMAN growth hormone releasing hormone receptor NA NA activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP-mediated signaling (GO:0019933)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|determination of adult lifespan (GO:0008340)|growth hormone secretion (GO:0030252)|hormone metabolic process (GO:0042445)|lactation (GO:0007595)|multicellular organismal reproductive process (GO:0048609)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of intracellular steroid hormone receptor signaling pathway (GO:0033143)|regulation of protein metabolic process (GO:0051246)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|somatotropin secreting cell development (GO:0060133)|water homeostasis (GO:0030104) cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nuclear matrix (GO:0016363)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)|secretory granule (GO:0030141) G-protein coupled receptor activity (GO:0004930)|growth factor binding (GO:0019838)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046) biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Sermorelin(DB00010)|Tesamorelin(DB08869) ACCCAGGTCCTGGCCCCCAGG 0.597 NA C||| 667 0.133187 0.3253 0.0418 5008 , , NA 15472 0.0724 NA 0.0338 False NA ,,, NA NA NA 2504 0.1033 NA NA NA NA 0 C 1178,3228 710.7+/-407.9 172,834,1197 54 55 55 -6.3 0 7 dbSNP_126 55 277,8323 806.8+/-407.2 3,271,4026 no intron GHRHR NM_000823.3 175,1105,5223 CC,CT,TT 3.2209,26.7363,11.1871 31013590 1455,11551 2203 4300 6503 SO:0001627 intron_variant CCDS5432.1 7p14 2012-08-10 ENSG00000106128 ENSG00000106128 2692 GPCR / Class B : Glucagon receptors 4266 protein-coding gene gene with protein product 139191 NA 7680413, 7514564 Standard NM_000823 NA Approved uc003tbx.3 Q02643 OTTHUMG00000152801 ENST00000326139.2:c.598-10T>C chr7.hg19:g.31013590T>C NA Q99863 hg19 CCDS5432.1 0.02 6.332559 TCCxGGC COVERED NOVEL GHRHR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000327967.2 0 10.531953 KEEP 0 0 0 35 1097 TT 0.999999 0.999999 0 + 7 60 252 0 0 15.59475 179 60 6582 286 ENST00000326139.2 0.037634 1 GHRHR 2692 __UNKNOWN__ __UNKNOWN__ 7 31013675 31013675 __UNKNOWN__ Missense_Mutation SNP G G A rs28371560 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:31013675G>A ENST00000326139.2 + 7 719 c.673G>A c.(673-675)Gtc>Atc p.V225I GHRHR_ENST00000409316.1_Intron|GHRHR_ENST00000461424.1_3'UTR|GHRHR_ENST00000409904.3_Missense_Mutation_p.V161I NM_000823.3 NP_000814.2 Q02643 GHRHR_HUMAN growth hormone releasing hormone receptor 225 NA V -> I (in dbSNP:rs28371560). activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP-mediated signaling (GO:0019933)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|determination of adult lifespan (GO:0008340)|growth hormone secretion (GO:0030252)|hormone metabolic process (GO:0042445)|lactation (GO:0007595)|multicellular organismal reproductive process (GO:0048609)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of intracellular steroid hormone receptor signaling pathway (GO:0033143)|regulation of protein metabolic process (GO:0051246)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|somatotropin secreting cell development (GO:0060133)|water homeostasis (GO:0030104) cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nuclear matrix (GO:0016363)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)|secretory granule (GO:0030141) G-protein coupled receptor activity (GO:0004930)|growth factor binding (GO:0019838)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046) biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Sermorelin(DB00010)|Tesamorelin(DB08869) GGCAGAAGCCGTCTACCTGAA 0.632 NA G||| 67 0.0133786 0.0015 0.0014 5008 , , NA 16733 0.0615 NA 0.0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 G ILE/VAL 4,4402 8.1+/-20.4 0,4,2199 82 81 82 673 1 0.4 7 dbSNP_125 82 1,8599 1.2+/-3.3 0,1,4299 yes missense GHRHR NM_000823.3 29 0,5,6498 AA,AG,GG 0.0116,0.0908,0.0384 benign 225/424 31013675 5,13001 2203 4300 6503 SO:0001583 missense CCDS5432.1 7p14 2012-08-10 ENSG00000106128 ENSG00000106128 2692 GPCR / Class B : Glucagon receptors 4266 protein-coding gene gene with protein product 139191 NA 7680413, 7514564 Standard NM_000823 NA Approved uc003tbx.3 Q02643 OTTHUMG00000152801 ENST00000326139.2:c.673G>A chr7.hg19:g.31013675G>A ENSP00000320180:p.Val225Ile NA Q99863 hg19 CCDS5432.1 0.02 6.305576 GCCxTCT COVERED 31 0.014194139194139194 2 0.0040650406504065045 0 0.0 29 0.050699300699300696 0 0.0 g 12.89 2.074243 0.36566 9.08E-4 1.16E-4 ENSG00000106128 ENST00000326139;ENST00000409904 T;T 0.38401 1.14;1.14 4.95 1.0 0.19881 GPCR, family 2-like (1); . . . . T 0.03053 0.0090 N 0.17800 0.525 0.80722 D 1 P;P 0.39809 0.689;0.465 B;B 0.38264 0.269;0.254 T 0.04153 -1.0973 9 0.72032 D 0.01 . 4.2693 0.10778 0.2831:0.2931:0.4238:0.0 rs28371560 161;225 Q9HB45;Q02643 .;GHRHR_HUMAN I 225;161 ENSP00000320180:V225I;ENSP00000387113:V161I ENSP00000320180:V225I V + 1 0 GHRHR 30980200 0.246000 0.23909 0.374000 0.26016 0.320000 0.28249 1.005000 0.29834 0.691000 0.31592 -0.147000 0.13772 GTC NOVEL GHRHR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000327967.2 1 9.027706 KEEP 0 0 0 30 1009 GG 0.999997 0.999997 0 + 7 60 262 0 0 16.542158 182 60 6489 282 ENST00000326139.2 0.037037 1 GHRHR 2692 __UNKNOWN__ __UNKNOWN__ 7 31014673 31014673 __UNKNOWN__ Intron SNP T T A rs34430645 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:31014673T>A ENST00000326139.2 + 9 928 GHRHR_ENST00000409316.1_Intron|GHRHR_ENST00000461424.1_Intron|GHRHR_ENST00000409904.3_Intron NM_000823.3 NP_000814.2 Q02643 GHRHR_HUMAN growth hormone releasing hormone receptor NA NA activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP-mediated signaling (GO:0019933)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|determination of adult lifespan (GO:0008340)|growth hormone secretion (GO:0030252)|hormone metabolic process (GO:0042445)|lactation (GO:0007595)|multicellular organismal reproductive process (GO:0048609)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of intracellular steroid hormone receptor signaling pathway (GO:0033143)|regulation of protein metabolic process (GO:0051246)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|somatotropin secreting cell development (GO:0060133)|water homeostasis (GO:0030104) cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nuclear matrix (GO:0016363)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)|secretory granule (GO:0030141) G-protein coupled receptor activity (GO:0004930)|growth factor binding (GO:0019838)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046) biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Sermorelin(DB00010)|Tesamorelin(DB08869) CCTGGGCCAGTGCCCTTTGCT 0.587 NA OREG0017943 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) T||| 73 0.0145767 0.0061 0.0014 5008 , , NA 18835 0.0615 NA 0.0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 T 11,4395 17.9+/-39.9 0,11,2192 105 92 97 -9.1 0 7 dbSNP_126 97 1,8599 1.2+/-3.3 0,1,4299 no intron GHRHR NM_000823.3 0,12,6491 AA,AT,TT 0.0116,0.2497,0.0923 31014673 12,12994 2203 4300 6503 SO:0001627 intron_variant CCDS5432.1 7p14 2012-08-10 ENSG00000106128 ENSG00000106128 2692 GPCR / Class B : Glucagon receptors 4266 protein-coding gene gene with protein product 139191 NA 7680413, 7514564 Standard NM_000823 NA Approved uc003tbx.3 Q02643 OTTHUMG00000152801 ENST00000326139.2:c.882+18T>A chr7.hg19:g.31014673T>A 821 Q99863 hg19 CCDS5432.1 0.02 16.068086 CAGxGCC COVERED NOVEL GHRHR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000327967.2 1 12.637509 KEEP 0 0 0 42 1319 TT 1 1 0 + 20 60 746 0 0 50.38648 349 60 12519 498 ENST00000326139.2 0.054201 1 GHRHR 2692 __UNKNOWN__ __UNKNOWN__ 7 31015530 31015530 __UNKNOWN__ Intron SNP G G A rs2074781 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:31015530G>A ENST00000326139.2 + 10 1020 GHRHR_ENST00000409316.1_Intron|GHRHR_ENST00000461424.1_Intron|GHRHR_ENST00000409904.3_Intron NM_000823.3 NP_000814.2 Q02643 GHRHR_HUMAN growth hormone releasing hormone receptor NA NA activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP-mediated signaling (GO:0019933)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|determination of adult lifespan (GO:0008340)|growth hormone secretion (GO:0030252)|hormone metabolic process (GO:0042445)|lactation (GO:0007595)|multicellular organismal reproductive process (GO:0048609)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of intracellular steroid hormone receptor signaling pathway (GO:0033143)|regulation of protein metabolic process (GO:0051246)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|somatotropin secreting cell development (GO:0060133)|water homeostasis (GO:0030104) cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nuclear matrix (GO:0016363)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)|secretory granule (GO:0030141) G-protein coupled receptor activity (GO:0004930)|growth factor binding (GO:0019838)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046) biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Sermorelin(DB00010)|Tesamorelin(DB08869) GTAACTGGAGGGGGATTCAAT 0.517 NA G||| 67 0.0133786 0.0015 0.0014 5008 , , NA 18239 0.0615 NA 0.0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 G 3,4403 4.2+/-10.8 0,3,2200 81 80 80 -1.6 0 7 dbSNP_96 80 1,8599 0,1,4299 no intron GHRHR NM_000823.3 0,4,6499 AA,AG,GG 0.0116,0.0681,0.0308 31015530 4,13002 2203 4300 6503 SO:0001627 intron_variant CCDS5432.1 7p14 2012-08-10 ENSG00000106128 ENSG00000106128 2692 GPCR / Class B : Glucagon receptors 4266 protein-coding gene gene with protein product 139191 NA 7680413, 7514564 Standard NM_000823 NA Approved uc003tbx.3 Q02643 OTTHUMG00000152801 ENST00000326139.2:c.974+47G>A chr7.hg19:g.31015530G>A NA Q99863 hg19 CCDS5432.1 0.02 4.745158 GAGxGGG COVERED NOVEL GHRHR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000327967.2 0 5.71826 KEEP 0 0 0 19 666 GG 0.99986 0.999847 0 + 6 60 220 0 0 14.852626 100 60 3701 160 ENST00000326139.2 0.056604 0.999987 GHRHR 2692 __UNKNOWN__ __UNKNOWN__ 7 31016018 31016018 __UNKNOWN__ Intron SNP G G A rs4988504 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:31016018G>A ENST00000326139.2 + 11 1020 GHRHR_ENST00000409316.1_Intron|GHRHR_ENST00000461424.1_Intron|GHRHR_ENST00000409904.3_Intron NM_000823.3 NP_000814.2 Q02643 GHRHR_HUMAN growth hormone releasing hormone receptor NA NA activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP-mediated signaling (GO:0019933)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|determination of adult lifespan (GO:0008340)|growth hormone secretion (GO:0030252)|hormone metabolic process (GO:0042445)|lactation (GO:0007595)|multicellular organismal reproductive process (GO:0048609)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of intracellular steroid hormone receptor signaling pathway (GO:0033143)|regulation of protein metabolic process (GO:0051246)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|somatotropin secreting cell development (GO:0060133)|water homeostasis (GO:0030104) cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nuclear matrix (GO:0016363)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)|secretory granule (GO:0030141) G-protein coupled receptor activity (GO:0004930)|growth factor binding (GO:0019838)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046) biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Sermorelin(DB00010)|Tesamorelin(DB08869) CCAGTCTTGGGAGCCTAGGAT 0.498 NA G||| 660 0.131789 0.0794 0.1427 5008 , , NA 18652 0.1726 NA 0.1183 False NA ,,, NA NA NA 2504 0.1667 NA NA NA NA 0 G 357,4049 181.9+/-209.8 19,319,1865 68 58 61 2.3 0 7 dbSNP_113 61 906,7694 201.7+/-245.1 49,808,3443 no intron GHRHR NM_000823.3 68,1127,5308 AA,AG,GG 10.5349,8.1026,9.7109 31016018 1263,11743 2203 4300 6503 SO:0001627 intron_variant CCDS5432.1 7p14 2012-08-10 ENSG00000106128 ENSG00000106128 2692 GPCR / Class B : Glucagon receptors 4266 protein-coding gene gene with protein product 139191 NA 7680413, 7514564 Standard NM_000823 NA Approved uc003tbx.3 Q02643 OTTHUMG00000152801 ENST00000326139.2:c.975-26G>A chr7.hg19:g.31016018G>A NA Q99863 hg19 CCDS5432.1 0.02 5.805072 TGGxAGC COVERED NOVEL GHRHR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000327967.2 1 4.167567 KEEP 0 0 0 14 455 GG 0.995343 0.995343 0 + 8 60 271 0 0 16.763963 170 60 6135 225 ENST00000326139.2 0.044944 1 ADCYAP1R1 117 __UNKNOWN__ __UNKNOWN__ 7 31117634 31117634 __UNKNOWN__ Silent SNP G G A rs146852802 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:31117634G>A ENST00000396211.2 + 3 257 c.186G>A c.(184-186)acG>acA p.T62T ADCYAP1R1_ENST00000409489.1_Silent_p.T62T|ADCYAP1R1_ENST00000409363.1_Silent_p.T62T|ADCYAP1R1_ENST00000304166.4_Silent_p.T62T P41586 PACR_HUMAN adenylate cyclase activating polypeptide 1 (pituitary) receptor type I 62 NA activation of adenylate cyclase activity (GO:0007190)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) receptor activity (GO:0004872)|vasoactive intestinal polypeptide receptor activity (GO:0004999) endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1) 35 ACAACATCACGTGTTGGAAGC 0.572 NA G||| 43 0.00858626 0.0083 0.0014 5008 , , NA 22867 0.0258 NA 0.002 False NA ,,, NA NA NA 2504 0.0031 NA NA NA Ovarian(44;225 1186 2158 11092) NA 0 G ,,, 21,4385 29.0+/-57.7 0,21,2182 185 135 152 186,186,186,186 -10.4 0.1 7 dbSNP_134 152 10,8590 7.7+/-29.5 0,10,4290 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous ADCYAP1R1 NM_001118.4,NM_001199635.1,NM_001199636.1,NM_001199637.1 ,,, 0,31,6472 AA,AG,GG 0.1163,0.4766,0.2384 ,,, 62/469,62/497,62/496,62/448 31117634 31,12975 2203 4300 6503 SO:0001819 synonymous_variant CCDS5433.1, CCDS56480.1, CCDS56481.1 7p14.3 2012-09-20 ENSG00000078549 ENSG00000078549 117 GPCR / Class B : VIP and PACAP (ADCYAP1) receptors 242 protein-coding gene gene with protein product PACAP receptor 1 102981 NA 7902709 Standard NM_001118 NM_001199635 NA Approved PAC1, PACAPR, PAC1R uc003tcg.3 P41586 OTTHUMG00000023884 ENST00000396211.2:c.186G>A chr7.hg19:g.31117634G>A NA A8K1Y1|B7ZLA7|B8ZZK3|Q17S10 hg19 CCDS56480.1 0.02 8.537169 CACxTGT COVERED NOVEL ADCYAP1R1-003 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000328079.1 7 8.260225 KEEP 0 1 30 38 1301 GG 1 1 0 + 13 60 460 0 0 31.128591 194 60 6760 295 ENST00000396211.2 0.062802 1 ADCYAP1R1 117 __UNKNOWN__ __UNKNOWN__ 7 31117742 31117742 __UNKNOWN__ Intron SNP C C T rs140643573 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:31117742C>T ENST00000396211.2 + 3 336 ADCYAP1R1_ENST00000409489.1_Intron|ADCYAP1R1_ENST00000409363.1_Intron|ADCYAP1R1_ENST00000304166.4_Intron P41586 PACR_HUMAN adenylate cyclase activating polypeptide 1 (pituitary) receptor type I NA NA activation of adenylate cyclase activity (GO:0007190)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) receptor activity (GO:0004872)|vasoactive intestinal polypeptide receptor activity (GO:0004999) endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1) 35 CTTTAGGCCACGCTGGCCTAG 0.617 NA C||| 32 0.00638978 0.0015 0.0 5008 , , NA 21559 0.0248 NA 0.002 False NA ,,, NA NA NA 2504 0.0031 NA NA NA Ovarian(44;225 1186 2158 11092) NA 0 C ,,, 4,4402 8.1+/-20.4 0,4,2199 54 46 48 ,,, -5.6 0 7 dbSNP_134 48 9,8589 7.1+/-27.0 0,9,4290 no intron,intron,intron,intron ADCYAP1R1 NM_001118.4,NM_001199635.1,NM_001199636.1,NM_001199637.1 ,,, 0,13,6489 TT,TC,CC 0.1047,0.0908,0.1 ,,, ,,, 31117742 13,12991 2203 4299 6502 SO:0001627 intron_variant CCDS5433.1, CCDS56480.1, CCDS56481.1 7p14.3 2012-09-20 ENSG00000078549 ENSG00000078549 117 GPCR / Class B : VIP and PACAP (ADCYAP1) receptors 242 protein-coding gene gene with protein product PACAP receptor 1 102981 NA 7902709 Standard NM_001118 NM_001199635 NA Approved PAC1, PACAPR, PAC1R uc003tcg.3 P41586 OTTHUMG00000023884 ENST00000396211.2:c.265+29C>T chr7.hg19:g.31117742C>T NA A8K1Y1|B7ZLA7|B8ZZK3|Q17S10 hg19 CCDS56480.1 0.02 4.117363 CCAxGCT COVERED NOVEL ADCYAP1R1-003 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000328079.1 0 3.610346 KEEP 0 0 0 12 385 CC 0.993634 0.993632 0 + 6 60 192 0 0 11.731559 115 60 3835 162 ENST00000396211.2 0.049587 0.999999 ADCYAP1R1 117 __UNKNOWN__ __UNKNOWN__ 7 31127398 31127398 __UNKNOWN__ Intron SNP A A G rs55856551 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:31127398A>G ENST00000396211.2 + 11 1025 ADCYAP1R1_ENST00000409489.1_Intron|ADCYAP1R1_ENST00000409363.1_Intron|ADCYAP1R1_ENST00000304166.4_Intron P41586 PACR_HUMAN adenylate cyclase activating polypeptide 1 (pituitary) receptor type I NA NA activation of adenylate cyclase activity (GO:0007190)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) receptor activity (GO:0004872)|vasoactive intestinal polypeptide receptor activity (GO:0004999) endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1) 35 GAGTCCCCACACAACCTGAct 0.478 NA A||| 465 0.0928514 0.1172 0.0735 5008 , , NA 17968 0.1647 NA 0.0318 False NA ,,, NA NA NA 2504 0.0624 NA NA NA Ovarian(44;225 1186 2158 11092) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS5433.1, CCDS56480.1, CCDS56481.1 7p14.3 2012-09-20 ENSG00000078549 ENSG00000078549 117 GPCR / Class B : VIP and PACAP (ADCYAP1) receptors 242 protein-coding gene gene with protein product PACAP receptor 1 102981 NA 7902709 Standard NM_001118 NM_001199635 NA Approved PAC1, PACAPR, PAC1R uc003tcg.3 P41586 OTTHUMG00000023884 ENST00000396211.2:c.954+88A>G chr7.hg19:g.31127398A>G NA A8K1Y1|B7ZLA7|B8ZZK3|Q17S10 hg19 CCDS56480.1 0.02 6.736725 CACxCAA COVERED NOVEL ADCYAP1R1-003 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000328079.1 0 6.017038 KEEP 0 0 0 20 606 AA 0.999863 0.999863 0 + 9 60 341 0 0 23.015949 165 60 5794 239 ENST00000396211.2 0.051724 1 CCDC129 223075 __UNKNOWN__ __UNKNOWN__ 7 31611758 31611758 __UNKNOWN__ Silent SNP G G T rs67930674 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:31611758G>T ENST00000409210.1 + 4 259 c.75G>T c.(73-75)ggG>ggT p.G25G CCDC129_ENST00000482748.1_3'UTR|CCDC129_ENST00000407970.3_Silent_p.G117G|CCDC129_ENST00000319386.3_Silent_p.G117G|CCDC129_ENST00000451887.2_Silent_p.G143G Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 117 NA cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31) 44 TATCCAGAGGGACCAGTTTCA 0.403 NA G||| 2209 0.441094 0.5378 0.5101 5008 , , NA 19577 0.3383 NA 0.4036 False NA ,,, NA NA NA 2504 0.4059 NA NA NA NA 0 G 2273,2133 592.7+/-387.9 582,1109,512 122 106 111 351 2.8 1 7 dbSNP_130 111 3598,5002 515.5+/-378.6 751,2096,1453 no coding-synonymous CCDC129 NM_194300.2 1333,3205,1965 TT,TG,GG 41.8372,48.4113,45.1407 117/1045 31611758 5871,7135 2203 4300 6503 SO:0001819 synonymous_variant AK128026 CCDS5435.2, CCDS59050.1, CCDS75577.1 7p14.3 2006-08-21 ENSG00000180347 ENSG00000180347 223075 27363 protein-coding gene gene with protein product NA 14702039 Standard NM_194300 NM_001257967 NA Approved FLJ38344 uc011kad.1 Q6ZRS4 OTTHUMG00000128611 ENST00000409210.1:c.75G>T chr7.hg19:g.31611758G>T NA A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5 hg19 0.02 13.852542 AGGxACC COVERED NOVEL CCDC129-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000328240.2 1 6.922682 KEEP 0 0 0 23 820 GG 0.999892 0.999892 0 + 16 60 557 0 0 34.903392 345 60 12956 477 ENST00000409210.1 0.044321 1 PPP1R17 10842 __UNKNOWN__ __UNKNOWN__ 7 31732089 31732089 __UNKNOWN__ Missense_Mutation SNP C C G rs3735422 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:31732089C>G ENST00000409146.3 + 2 162 c.34C>G c.(34-36)Ctc>Gtc p.L12V PPP1R17_ENST00000342032.3_Missense_Mutation_p.L12V NM_001145123.2 NP_001138595.1 O96001 PPR17_HUMAN protein phosphatase 1, regulatory subunit 17 12 NA L -> V (in dbSNP:rs3735422). {ECO:0000269|PubMed:10051666, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9920894}. central nervous system development (GO:0007417)|intracellular signal transduction (GO:0035556)|regulation of phosphatase activity (GO:0010921) protein serine/threonine phosphatase inhibitor activity (GO:0004865) p.L12V(1) NA GCCACTGGAACTCTCAGAAGA 0.448 NA C||| 797 0.159145 0.2057 0.1095 5008 , , NA 19782 0.2341 NA 0.1153 False NA ,,, NA NA NA 2504 0.0992 NA NA NA NA 1 Substitution - Missense(1) stomach(1) C VAL/LEU,VAL/LEU 757,3649 308.0+/-290.3 61,635,1507 117 102 107 34,34 4.3 1 7 dbSNP_107 107 962,7638 210.3+/-251.2 55,852,3393 yes missense,missense C7orf16 NM_001145123.2,NM_006658.4 32,32 116,1487,4900 GG,GC,CC 11.186,17.1811,13.217 benign,benign 12/105,12/156 31732089 1719,11287 2203 4300 6503 SO:0001583 missense AF071789 CCDS5436.1, CCDS47570.1 7p15 2012-04-17 2011-10-11 2011-10-11 ENSG00000106341 ENSG00000106341 10842 Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits 16973 protein-coding gene gene with protein product G-substrate 604088 chromosome 7 open reading frame 16 C7orf16 NA 10051666, 9920894 Standard NM_006658 NM_006658 NA Approved GSBS uc003tcl.3 O96001 OTTHUMG00000128629 ENST00000409146.3:c.34C>G chr7.hg19:g.31732089C>G ENSP00000386459:p.Leu12Val NA B4DE58|Q9UDQ0 hg19 CCDS47570.1 0.02 39.589383 GAAxTCT COVERED 337 0.1543040293040293 88 0.17886178861788618 37 0.10220994475138122 131 0.229020979020979 81 0.10686015831134564 C 12.87 2.068223 0.36470 0.171811 0.11186 ENSG00000106341 ENST00000342032;ENST00000409146 T;T 0.36157 1.27;1.28 6.16 4.32 0.51571 . 0.255877 0.33235 N 0.005132 T 0.00012 0.0000 L 0.47716 1.5 0.35108 P 0.23413399999999995 P;B 0.37207 0.587;0.3 B;B 0.35182 0.197;0.164 T 0.23368 -1.0190 9 0.46703 T 0.11 -1.8379 5.263 0.15584 0.2395:0.5777:0.1105:0.0722 rs3735422;rs17852495;rs3735422 12;12 B4DE58;O96001 .;PPR17_HUMAN V 12 ENSP00000340125:L12V;ENSP00000386459:L12V ENSP00000340125:L12V L + 1 0 C7orf16 31698614 1.000000 0.71417 0.999000 0.59377 0.844000 0.47949 2.986000 0.49370 0.886000 0.36113 0.650000 0.86243 CTC NOVEL PPP1R17-002 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000328334.1 3 11.647644 KEEP 0 3 107 76 2811 CC 1 1 0 + 37 60 1404 0 0 91.899371 818 60 31368 1081 ENST00000409146.3 0.043275 1 PPP1R17 10842 __UNKNOWN__ __UNKNOWN__ 7 31746837 31746837 __UNKNOWN__ Silent SNP C C T rs2072409 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:31746837C>T ENST00000409146.3 + 4 383 c.255C>T c.(253-255)gaC>gaT p.D85D PPP1R17_ENST00000498609.1_3'UTR|PPP1R17_ENST00000342032.3_Silent_p.D136D NM_001145123.2 NP_001138595.1 O96001 PPR17_HUMAN protein phosphatase 1, regulatory subunit 17 136 NA central nervous system development (GO:0007417)|intracellular signal transduction (GO:0035556)|regulation of phosphatase activity (GO:0010921) protein serine/threonine phosphatase inhibitor activity (GO:0004865) p.D136D(1) NA TGCTCAGGGACGAGAGACCCA 0.418 NA C||| 590 0.117812 0.0431 0.0994 5008 , , NA 21741 0.2361 NA 0.1252 False NA ,,, NA NA NA 2504 0.1022 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) C , 232,4174 137.3+/-173.1 5,222,1976 132 115 121 255,408 -8.4 0.3 7 dbSNP_96 121 1109,7491 230.7+/-264.9 79,951,3270 no coding-synonymous,coding-synonymous C7orf16 NM_001145123.2,NM_006658.4 , 84,1173,5246 TT,TC,CC 12.8953,5.2655,10.3106 , 85/105,136/156 31746837 1341,11665 2203 4300 6503 SO:0001819 synonymous_variant AF071789 CCDS5436.1, CCDS47570.1 7p15 2012-04-17 2011-10-11 2011-10-11 ENSG00000106341 ENSG00000106341 10842 Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits 16973 protein-coding gene gene with protein product G-substrate 604088 chromosome 7 open reading frame 16 C7orf16 NA 10051666, 9920894 Standard NM_006658 NM_006658 NA Approved GSBS uc003tcl.3 O96001 OTTHUMG00000128629 ENST00000409146.3:c.255C>T chr7.hg19:g.31746837C>T NA B4DE58|Q9UDQ0 hg19 CCDS47570.1 0.02 15.588748 GGAxGAG COVERED NOVEL PPP1R17-002 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000328334.1 0 5.351917 KEEP 0 1 32 29 991 CC 0.999997 0.999997 0 + 10 60 377 0 0 22.543488 358 60 12442 462 ENST00000409146.3 0.027174 1 PDE1C 5137 __UNKNOWN__ __UNKNOWN__ 7 31823379 31823379 __UNKNOWN__ Intron SNP T T C rs758936 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:31823379T>C ENST00000396193.1 - 18 2665 PDE1C_ENST00000321453.7_Intron|PDE1C_ENST00000396191.1_Intron|PDE1C_ENST00000396184.3_3'UTR NM_001191058.1 NP_001177987.1 Q14123 PDE1C_HUMAN phosphodiesterase 1C, calmodulin-dependent 70kDa NA NA activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165) cytosol (GO:0005829) calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) Caffeine(DB00201) TTGGATAACATTGGTTAAGCA 0.343 NA T||| 1977 0.394768 0.5303 0.2363 5008 , , NA 20688 0.6558 NA 0.1481 False NA ,,, NA NA NA 2504 0.3088 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U40371 CCDS5437.1, CCDS55099.1, CCDS55100.1 7p15.1-p14.3 2008-05-15 2002-08-29 ENSG00000154678 ENSG00000154678 5137 3.1.4.17 Phosphodiesterases 8776 protein-coding gene gene with protein product 602987 phosphodiesterase 1C, calmodulin-dependent (70kD) NA 8557689 Standard XM_005249769 NA Approved Hcam3 uc003tco.2 Q14123 OTTHUMG00000023836 ENST00000396193.1:c.2072-8033A>G chr7.hg19:g.31823379T>C NA B3KPC6|E9PE92|Q14124|Q8NB10 hg19 CCDS55100.1 0.02 9.637911 ACAxTGG COVERED NOVEL PDE1C-001 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000215075.1 2 8.124146 KEEP 0 0 0 27 869 TT 0.999988 0.999988 0 - 14 60 536 0 0 37.712948 204 60 7443 291 ENST00000396193.1 0.06422 1 PDE1C 5137 __UNKNOWN__ __UNKNOWN__ 7 31823917 31823917 __UNKNOWN__ Intron SNP C C T rs917753 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:31823917C>T ENST00000396193.1 - 18 2665 PDE1C_ENST00000321453.7_Intron|PDE1C_ENST00000396191.1_Intron|PDE1C_ENST00000396184.3_3'UTR NM_001191058.1 NP_001177987.1 Q14123 PDE1C_HUMAN phosphodiesterase 1C, calmodulin-dependent 70kDa NA NA activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165) cytosol (GO:0005829) calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) Caffeine(DB00201) AGAGCAAAAACTGTGCTGTAC 0.408 NA T||| 1711 0.341653 0.3366 0.196 5008 , , NA 20475 0.7173 NA 0.1252 False NA ,,, NA NA NA 2504 0.2873 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U40371 CCDS5437.1, CCDS55099.1, CCDS55100.1 7p15.1-p14.3 2008-05-15 2002-08-29 ENSG00000154678 ENSG00000154678 5137 3.1.4.17 Phosphodiesterases 8776 protein-coding gene gene with protein product 602987 phosphodiesterase 1C, calmodulin-dependent (70kD) NA 8557689 Standard XM_005249769 NA Approved Hcam3 uc003tco.2 Q14123 OTTHUMG00000023836 ENST00000396193.1:c.2072-8571G>A chr7.hg19:g.31823917C>T NA B3KPC6|E9PE92|Q14124|Q8NB10 hg19 CCDS55100.1 0.02 6.334918 AAAxTGT COVERED NOVEL PDE1C-001 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000215075.1 1 4.514873 KEEP 0 0 0 15 550 CC 0.99649 0.99649 0 - 16 60 582 0 0 43.118338 147 60 5462 195 ENST00000396193.1 0.09816 1 PDE1C 5137 __UNKNOWN__ __UNKNOWN__ 7 31823992 31823992 __UNKNOWN__ Intron SNP G G C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:31823992G>C ENST00000396193.1 - 18 2665 PDE1C_ENST00000321453.7_Intron|PDE1C_ENST00000396191.1_Intron|PDE1C_ENST00000396184.3_3'UTR NM_001191058.1 NP_001177987.1 Q14123 PDE1C_HUMAN phosphodiesterase 1C, calmodulin-dependent 70kDa NA NA activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165) cytosol (GO:0005829) calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) Caffeine(DB00201) TTGGGTAATTGATTTCCCATA 0.433 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U40371 CCDS5437.1, CCDS55099.1, CCDS55100.1 7p15.1-p14.3 2008-05-15 2002-08-29 ENSG00000154678 ENSG00000154678 5137 3.1.4.17 Phosphodiesterases 8776 protein-coding gene gene with protein product 602987 phosphodiesterase 1C, calmodulin-dependent (70kD) NA 8557689 Standard XM_005249769 NA Approved Hcam3 uc003tco.2 Q14123 OTTHUMG00000023836 ENST00000396193.1:c.2072-8646C>G chr7.hg19:g.31823992G>C NA B3KPC6|E9PE92|Q14124|Q8NB10 hg19 CCDS55100.1 0.02 10.701348 ATTxATT COVERED NOVEL PDE1C-001 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000215075.1 3 9.930349 KEEP 0 0 0 33 1128 GG 0.999998 0.999998 0 - 8 60 303 0 0 18.372729 270 60 10094 349 ENST00000396193.1 0.028777 1 PDE1C 5137 __UNKNOWN__ __UNKNOWN__ 7 32209359 32209359 __UNKNOWN__ Intron SNP A A G rs758318 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:32209359A>G ENST00000396193.1 - 3 902 NM_001191058.1 NP_001177987.1 Q14123 PDE1C_HUMAN phosphodiesterase 1C, calmodulin-dependent 70kDa NA NA activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165) cytosol (GO:0005829) calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) Caffeine(DB00201) CTCCACAAGCAAATAAGAAGG 0.408 NA A||| 549 0.109625 0.0121 0.0605 5008 , , NA 21548 0.3383 NA 0.0547 False NA ,,, NA NA NA 2504 0.0971 NA NA NA NA 0 A 39,1713 0,39,837 44 40 41 -3.1 0 7 dbSNP_86 41 176,3806 3,170,1818 no intron PDE1C NM_001191058.1 3,209,2655 GG,GA,AA 4.4199,2.226,3.7496 32209359 215,5519 876 1991 2867 SO:0001627 intron_variant U40371 CCDS5437.1, CCDS55099.1, CCDS55100.1 7p15.1-p14.3 2008-05-15 2002-08-29 ENSG00000154678 ENSG00000154678 5137 3.1.4.17 Phosphodiesterases 8776 protein-coding gene gene with protein product 602987 phosphodiesterase 1C, calmodulin-dependent (70kD) NA 8557689 Standard XM_005249769 NA Approved Hcam3 uc003tco.2 Q14123 OTTHUMG00000023836 ENST00000396193.1:c.308+37T>C chr7.hg19:g.32209359A>G NA B3KPC6|E9PE92|Q14124|Q8NB10 hg19 CCDS55100.1 0.02 8.581847 AGCxAAT COVERED NOVEL PDE1C-001 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000215075.1 2 11.132293 KEEP 0 0 0 37 1154 AA 1 1 0 - 10 60 353 0 0 22.103348 226 60 8392 337 ENST00000396193.1 0.042373 1 AVL9 23080 __UNKNOWN__ __UNKNOWN__ 7 32535437 32535437 __UNKNOWN__ Intron SNP C C A rs3750086 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:32535437C>A ENST00000318709.4 + 1 314 AVL9_ENST00000459629.1_Intron|AVL9_ENST00000404479.1_Intron|AVL9_ENST00000409301.1_Intron NM_015060.1 NP_055875.1 Q8NBF6 AVL9_HUMAN AVL9 homolog (S. cerevisiase) NA NA cell migration (GO:0016477) integral component of membrane (GO:0016021)|recycling endosome (GO:0055037) endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 CCCGCCCCCGCCCCCAGCCGT 0.711 NA C||| 569 0.113618 0.1362 0.1614 5008 , , NA 9618 0.1101 NA 0.0795 False NA ,,, NA NA NA 2504 0.0879 NA NA NA NA 0 C 310,3250 5,300,1475 6 8 7 0.6 0 7 dbSNP_107 7 378,6576 9,360,3108 no intron AVL9 NM_015060.1 14,660,4583 AA,AC,CC 5.4357,8.7079,6.5437 32535437 688,9826 1780 3477 5257 SO:0001627 intron_variant D87682 CCDS34613.1 7p14.3 2013-05-01 2008-10-03 2008-10-03 ENSG00000105778 ENSG00000105778 23080 28994 protein-coding gene gene with protein product 612927 KIAA0241 KIAA0241 NA 17229886, 22595670 Standard NM_015060 XM_005249668 NA Approved uc003tcv.1 Q8NBF6 OTTHUMG00000152929 ENST00000318709.4:c.93+23C>A chr7.hg19:g.32535437C>A NA Q92573 hg19 CCDS34613.1 0.02 3.85924 CCGxCCC COVERED NOVEL AVL9-003 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000328643.1 1 34.608278 KEEP 0 0 0 115 4153 CC 1 0.999997 0 + 6 60 198 0 0 12.416692 110 60 4099 338 ENST00000318709.4 0.051724 0.999997 FKBP9 11328 __UNKNOWN__ __UNKNOWN__ 7 33003171 33003171 __UNKNOWN__ Intron SNP G G A rs3110942 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:33003171G>A ENST00000242209.4 + 1 390 FKBP9_ENST00000538336.1_Silent_p.A79A|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538443.1_Intron NM_001284343.1|NM_007270.3 NP_001271272.1|NP_009201.2 O95302 FKBP9_HUMAN FK506 binding protein 9, 63 kDa NA NA chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789) calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755) central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 39 GBM - Glioblastoma multiforme(11;0.0156) gggatacagcggaggataaag 0.468 NA A||| 1631 0.325679 0.1846 0.3012 5008 , , NA 16517 0.3433 NA 0.4642 False NA ,,, NA NA NA 2504 0.3732 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF089745 CCDS5439.1, CCDS64622.1, CCDS64623.1 7p11.1 2013-01-10 2002-08-29 ENSG00000122642 ENSG00000122642 11328 EF-hand domain containing 3725 protein-coding gene gene with protein product FK506-binding protein 9 (63 kD) NA 12036304 Standard NM_007270 NM_007270 NA Approved FKBP60, FKBP63 uc003tdh.3 O95302 OTTHUMG00000097847 ENST00000242209.4:c.221+5765G>A chr7.hg19:g.33003171G>A NA B3KY35|B7Z1G9|B7Z6H3|Q2M2A1|Q3MIR7|Q6IN76|Q6P2N1|Q96EX5|Q96IJ9 hg19 CCDS5439.1 0.02 4.469923 AGCxGAG COVERED NOVEL FKBP9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000215137.1 1 14.144283 KEEP 0 0 0 47 1596 GG 1 1 0 + 7 40 254 0 0 17.005802 119 60 4179 222 ENST00000242209.4 0.055556 1 FKBP9 11328 __UNKNOWN__ __UNKNOWN__ 7 33046118 33046118 __UNKNOWN__ 3'UTR SNP G G T rs151187144 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:33046118G>T ENST00000242209.4 + 0 3037 AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538443.1_Intron NM_001284343.1|NM_007270.3 NP_001271272.1|NP_009201.2 O95302 FKBP9_HUMAN FK506 binding protein 9, 63 kDa NA NA chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789) calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755) central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 39 GBM - Glioblastoma multiforme(11;0.0156) AGGGCTGGGGGCTGGGCCCCG 0.458 NA G||| 410 0.081869 0.0189 0.0735 5008 , , NA 19801 0.1835 NA 0.0497 False NA ,,, NA NA NA 2504 0.1012 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF089745 CCDS5439.1, CCDS64622.1, CCDS64623.1 7p11.1 2013-01-10 2002-08-29 ENSG00000122642 ENSG00000122642 11328 EF-hand domain containing 3725 protein-coding gene gene with protein product FK506-binding protein 9 (63 kD) NA 12036304 Standard NM_007270 NM_007270 NA Approved FKBP60, FKBP63 uc003tdh.3 O95302 OTTHUMG00000097847 ENST00000242209.4:c.*1155G>T chr7.hg19:g.33046118G>T NA B3KY35|B7Z1G9|B7Z6H3|Q2M2A1|Q3MIR7|Q6IN76|Q6P2N1|Q96EX5|Q96IJ9 hg19 CCDS5439.1 0.02 16.118407 GGGxCTG COVERED NOVEL FKBP9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000215137.1 7 25.55628 KEEP 272 0 0 85 2982 GG 1 1 0 + 21 60 745 0 0 48.338938 399 60 14506 904 ENST00000242209.4 0.05 1 RP9 6100 __UNKNOWN__ __UNKNOWN__ 7 33134883 33134883 __UNKNOWN__ Missense_Mutation SNP T T C rs150987618 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:33134883T>C ENST00000297157.3 - 6 646 c.629A>G c.(628-630)aAa>aGa p.K210R NM_203288.1 NP_976033.1 Q8TA86 RP9_HUMAN retinitis pigmentosa 9 (autosomal dominant) 210 Lys-rich. NA K -> R (in dbSNP:rs150987618). {ECO:0000269|PubMed:12032732}. cognition (GO:0050890)|RNA splicing (GO:0008380) nucleus (GO:0005634)|signal recognition particle receptor complex (GO:0005785) poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270) large_intestine(3)|lung(3)|urinary_tract(1) 7 GBM - Glioblastoma multiforme(11;0.0403) CTTGGAAGATTTGTGCTTCCG 0.373 NA T||| 879 0.175519 0.0242 0.1254 5008 , , NA 21987 0.256 NA 0.2177 False NA ,,, NA NA NA 2504 0.2894 NA NA NA NA 0 T ARG/LYS 277,4125 149.9+/-184.0 8,261,1932 49 51 51 629 3.8 1 7 dbSNP_134 51 1898,6658 320.4+/-314.6 210,1478,2590 no missense RP9 NM_203288.1 26 218,1739,4522 CC,CT,TT 22.1833,6.2926,16.785 probably-damaging 210/222 33134883 2175,10783 2201 4278 6479 SO:0001583 missense AX016710 CCDS5440.1 7p14.3 2014-01-28 ENSG00000164610 ENSG00000164610 6100 10288 protein-coding gene gene with protein product Pim-1 kinase associated protein 607331 NA 8513323 Standard NM_203288 NM_203288 NA Approved PAP-1 uc003tdm.3 Q8TA86 OTTHUMG00000152988 ENST00000297157.3:c.629A>G chr7.hg19:g.33134883T>C ENSP00000297157:p.Lys210Arg NA hg19 CCDS5440.1 0.02 9.474084 GATxTGT COVERED 401 0.18360805860805862 14 0.028455284552845527 50 0.13812154696132597 163 0.28496503496503495 174 0.22955145118733508 T 9.967 1.224367 0.22457 0.062926 0.221833 ENSG00000164610 ENST00000297157 T 0.75154 -0.91 3.83 3.83 0.44106 . 0.887926 0.09587 N 0.782060 T 0.00039 0.0001 L 0.59436 1.845 0.28156 P 0.9292056 D 0.56035 0.974 D 0.67725 0.953 T 0.01341 -1.1380 9 0.52906 T 0.07 -6.5862 11.1697 0.48565 0.0:0.0:0.0:1.0 . 210 Q8TA86 RP9_HUMAN R 210 ENSP00000297157:K210R ENSP00000297157:K210R K - 2 0 RP9 33101408 1.000000 0.71417 0.999000 0.59377 0.975000 0.68041 4.737000 0.62066 1.662000 0.50781 0.460000 0.39030 AAA NOVEL RP9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000328914.1 3 12.87295 KEEP 176 1 38 56 1751 TT 0.999879 0.999879 0 - 16 27 606 0 0 42.475851 232 40 8309 529 ENST00000297157.3 0.064516 1 BBS9 27241 __UNKNOWN__ __UNKNOWN__ 7 33390594 33390594 __UNKNOWN__ Intron SNP C C A rs78352573 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:33390594C>A ENST00000242067.6 + 14 1953 BBS9_ENST00000355070.2_Intron|BBS9_ENST00000396127.2_Intron|BBS9_ENST00000354265.4_Intron|BBS9_ENST00000350941.3_Intron NM_198428.2 NP_940820.1 Q3SYG4 PTHB1_HUMAN Bardet-Biedl syndrome 9 NA NA cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601) BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886) BBS9/PKD1L1(2) NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(11;0.0894) gcgtgagccactgtgcccggt 0.463 NA Bardet-Biedl syndrome C||| 331 0.0660942 0.0091 0.0533 5008 , , NA 723 0.2431 NA 0.0169 False NA ,,, NA NA NA 2504 0.0204 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1 7p14 2014-06-17 ENSG00000122507 ENSG00000122507 27241 30000 protein-coding gene gene with protein product parathyroid hormone responsive B1 gene 607968 NA 16380913, 10221542 Standard XM_005249701 NA Approved B1, PTHB1 uc003tdn.1 Q3SYG4 OTTHUMG00000128659 ENST00000242067.6:c.1433-237C>A chr7.hg19:g.33390594C>A NA E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0 hg19 CCDS43566.1 0.02 6.258792 CCAxTGT COVERED NOVEL BBS9-004 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000329064.1 6 15.049251 KEEP 1 0 0 50 1820 CC 1 1 0 + 7 60 259 0 0 16.34325 176 60 6650 300 ENST00000242067.6 0.038251 1 NPSR1 387129 __UNKNOWN__ __UNKNOWN__ 7 34851393 34851393 __UNKNOWN__ Silent SNP C C G rs9655357 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:34851393C>G ENST00000360581.1 + 4 524 c.396C>G c.(394-396)ctC>ctG p.L132L NPSR1_ENST00000359791.1_Silent_p.L132L|NPSR1_ENST00000381539.3_Silent_p.L132L|NPSR1_ENST00000381542.1_Intron|NPSR1_ENST00000531252.1_Silent_p.L121L NM_207172.1 NP_997055.1 Q6W5P4 NPSR1_HUMAN neuropeptide S receptor 1 132 NA cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) neuropeptide receptor activity (GO:0008188)|vasopressin receptor activity (GO:0005000) endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7) 31 Halothane(DB01159) TTGTGCTGCTCTACGCCTCTA 0.473 NA C||| 744 0.148562 0.0113 0.1556 5008 , , NA 20300 0.3165 NA 0.2068 False NA ,,, NA NA NA 2504 0.0961 NA NA NA NA 0 C , 201,4205 125.3+/-162.5 6,189,2008 250 187 208 396,396 1.1 1 7 dbSNP_119 208 1589,7011 296.7+/-303.1 140,1309,2851 no coding-synonymous,coding-synonymous NPSR1 NM_207172.1,NM_207173.1 , 146,1498,4859 GG,GC,CC 18.4767,4.562,13.7629 , 132/372,132/378 34851393 1790,11216 2203 4300 6503 SO:0001819 synonymous_variant AY255536 CCDS5443.1, CCDS5444.1, CCDS75579.1, CCDS75580.1, CCDS75581.1 7p14.3 2012-08-08 2006-05-10 2006-05-10 ENSG00000187258 ENSG00000187258 387129 GPCR / Class A : Neuropeptide receptors : S 23631 protein-coding gene gene with protein product 608595 G protein-coupled receptor 154 GPR154 NA 12679517, 15073379 Standard NM_207173 NM_207173 NA Approved PGR14, GPRA uc003tei.1 Q6W5P4 OTTHUMG00000099383 ENST00000360581.1:c.396C>G chr7.hg19:g.34851393C>G NA A2RTZ4|Q2XP58|Q56H76|Q56H77|Q56H78|Q6JSL4|Q6JSL5|Q6JSL6|Q6JSL7|Q6JSL8|Q6W5P3|Q6ZMB8 hg19 CCDS5444.1 0.02 6.220086 GCTxTAC COVERED NOVEL NPSR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000216837.1 0 4.815837 KEEP 0 0 0 16 587 CC 0.997832 0.997832 0 + 8 60 280 1 0 17.691902 168 60 6382 245 ENST00000360581.1 0.045455 1 NPSR1 387129 __UNKNOWN__ __UNKNOWN__ 7 34874038 34874038 __UNKNOWN__ Missense_Mutation SNP C C G rs727162 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:34874038C>G ENST00000360581.1 + 6 851 c.723C>G c.(721-723)agC>agG p.S241R NPSR1_ENST00000359791.1_Missense_Mutation_p.S241R|NPSR1_ENST00000381539.3_Missense_Mutation_p.S241R|NPSR1_ENST00000381542.1_Missense_Mutation_p.S175R|NPSR1_ENST00000531252.1_Missense_Mutation_p.S230R NM_207172.1 NP_997055.1 Q6W5P4 NPSR1_HUMAN neuropeptide S receptor 1 241 NA S -> R (in dbSNP:rs727162). {ECO:0000269|Ref.5}. cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) neuropeptide receptor activity (GO:0008188)|vasopressin receptor activity (GO:0005000) endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7) 31 Halothane(DB01159) GGATTAAAAGCAAAACCTACG 0.423 NA C||| 1591 0.317692 0.2708 0.3516 5008 , , NA 21956 0.3512 NA 0.2177 False NA ,,, NA NA NA 2504 0.4254 NA NA NA NA 0 C ARG/SER,ARG/SER 1179,3227 413.7+/-336.6 145,889,1169 193 172 179 723,723 4.8 1 7 dbSNP_86 179 1812,6788 325.5+/-317.0 209,1394,2697 yes missense,missense NPSR1 NM_207172.1,NM_207173.1 110,110 354,2283,3866 GG,GC,CC 21.0698,26.759,22.9971 probably-damaging,probably-damaging 241/372,241/378 34874038 2991,10015 2203 4300 6503 SO:0001583 missense AY255536 CCDS5443.1, CCDS5444.1, CCDS75579.1, CCDS75580.1, CCDS75581.1 7p14.3 2012-08-08 2006-05-10 2006-05-10 ENSG00000187258 ENSG00000187258 387129 GPCR / Class A : Neuropeptide receptors : S 23631 protein-coding gene gene with protein product 608595 G protein-coupled receptor 154 GPR154 NA 12679517, 15073379 Standard NM_207173 NM_207173 NA Approved PGR14, GPRA uc003tei.1 Q6W5P4 OTTHUMG00000099383 ENST00000360581.1:c.723C>G chr7.hg19:g.34874038C>G ENSP00000353788:p.Ser241Arg NA A2RTZ4|Q2XP58|Q56H76|Q56H77|Q56H78|Q6JSL4|Q6JSL5|Q6JSL6|Q6JSL7|Q6JSL8|Q6W5P3|Q6ZMB8 hg19 CCDS5444.1 0.02 9.96938 AAGxAAA COVERED 619 0.2834249084249084 149 0.30284552845528456 115 0.31767955801104975 189 0.3304195804195804 166 0.21899736147757257 C 13.02 2.111304 0.37242 0.26759 0.210698 ENSG00000187258 ENST00000360581;ENST00000381542;ENST00000359791;ENST00000531252;ENST00000381539 T;T;T;T;T 0.37058 1.22;1.22;1.22;1.22;1.22 4.75 4.75 0.60458 GPCR, rhodopsin-like superfamily (1); 0.145297 0.49305 D 0.000142 T 0.00012 0.0000 L 0.56124 1.755 0.23449 P 0.99765779 D;D;D;D;D;D 0.76494 0.999;0.999;0.999;0.999;0.999;0.998 D;D;D;D;D;D 0.71656 0.966;0.974;0.943;0.973;0.974;0.973 T 0.30909 -0.9962 9 0.41790 T 0.15 -29.6163 10.1436 0.42749 0.0:0.908:0.0:0.092 rs727162;rs11489290;rs52823007;rs56605321;rs59161753;rs727162 175;230;175;241;241;241 B7ZMA2;Q6W5P4-5;Q6W5P4-2;Q6W5P4-4;Q6W5P4-3;Q6W5P4 .;.;.;.;.;NPSR1_HUMAN R 241;175;241;230;241 ENSP00000353788:S241R;ENSP00000370953:S175R;ENSP00000352839:S241R;ENSP00000433258:S230R;ENSP00000370950:S241R ENSP00000352839:S241R S + 3 2 NPSR1 34840563 1.000000 0.71417 1.000000 0.80357 0.772000 0.43724 1.415000 0.34748 2.456000 0.83038 0.555000 0.69702 AGC NOVEL NPSR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000216837.1 2 11.133661 KEEP 0 0 0 37 1310 CC 1 1 0 + 10 60 357 0 0 21.718422 272 60 10085 385 ENST00000360581.1 0.035461 1 DPY19L1 23333 __UNKNOWN__ __UNKNOWN__ 7 34970685 34970685 __UNKNOWN__ 3'UTR SNP C C G rs1186716 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:34970685C>G ENST00000310974.4 - 0 2672 NM_015283.1 NP_056098.1 Q2PZI1 D19L1_HUMAN dpy-19-like 1 (C. elegans) NA NA integral component of membrane (GO:0016021)|membrane (GO:0016020) transferase activity, transferring glycosyl groups (GO:0016757) endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 31 ATAGCAAACACTCCATGTCTG 0.398 NA C||| 1034 0.20647 0.1672 0.2507 5008 , , NA 19202 0.129 NA 0.2863 False NA ,,, NA NA NA 2504 0.226 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB020684 CCDS43567.1 7p14.3-p14.2 2006-04-26 ENSG00000173852 ENSG00000173852 23333 22205 protein-coding gene gene with protein product 613892 NA Standard NM_015283 NA Approved KIAA0877 uc003tem.4 Q2PZI1 OTTHUMG00000154888 ENST00000310974.4:c.*500G>C chr7.hg19:g.34970685C>G NA O94954|Q4G151 hg19 CCDS43567.1 0.02 4.616872 ACAxTCC COVERED NOVEL DPY19L1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000337506.1 1 6.320951 KEEP 1 0 0 21 772 CC 0.999869 0.999869 0 - 8 60 290 0 0 19.717641 124 60 4790 190 ENST00000310974.4 0.060606 1 DPY19L1 23333 __UNKNOWN__ __UNKNOWN__ 7 34970909 34970909 __UNKNOWN__ 3'UTR SNP G G T rs1186717 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:34970909G>T ENST00000310974.4 - 0 2448 NM_015283.1 NP_056098.1 Q2PZI1 D19L1_HUMAN dpy-19-like 1 (C. elegans) NA NA integral component of membrane (GO:0016021)|membrane (GO:0016020) transferase activity, transferring glycosyl groups (GO:0016757) endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 31 CTTTATACAGGTAGCTTTGCT 0.333 NA G||| 1031 0.205871 0.1596 0.255 5008 , , NA 19444 0.129 NA 0.2982 False NA ,,, NA NA NA 2504 0.2178 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB020684 CCDS43567.1 7p14.3-p14.2 2006-04-26 ENSG00000173852 ENSG00000173852 23333 22205 protein-coding gene gene with protein product 613892 NA Standard NM_015283 NA Approved KIAA0877 uc003tem.4 Q2PZI1 OTTHUMG00000154888 ENST00000310974.4:c.*276C>A chr7.hg19:g.34970909G>T NA O94954|Q4G151 hg19 CCDS43567.1 0.02 6.008639 CAGxTAG COVERED NOVEL DPY19L1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000337506.1 1 6.01982 KEEP 0 0 0 20 720 GG 0.999863 0.999863 0 - 7 60 240 0 0 14.751445 159 60 5886 225 ENST00000310974.4 0.042169 1 DPY19L1 23333 __UNKNOWN__ __UNKNOWN__ 7 34989364 34989364 __UNKNOWN__ Intron SNP T T C rs2021391 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:34989364T>C ENST00000310974.4 - 14 1348 NM_015283.1 NP_056098.1 Q2PZI1 D19L1_HUMAN dpy-19-like 1 (C. elegans) NA NA integral component of membrane (GO:0016021)|membrane (GO:0016020) transferase activity, transferring glycosyl groups (GO:0016757) endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 31 ATGAAAAATGTATGGGCCAAA 0.358 NA T||| 1096 0.21885 0.1982 0.2594 5008 , , NA 16719 0.129 NA 0.2992 False NA ,,, NA NA NA 2504 0.228 NA NA NA NA 0 T 782,2854 88,606,1124 20 18 19 0.8 0 7 dbSNP_94 19 2718,5442 443,1832,1805 no intron DPY19L1 NM_015283.1 531,2438,2929 CC,CT,TT 33.3088,21.5072,29.6711 34989364 3500,8296 1818 4080 5898 SO:0001627 intron_variant AB020684 CCDS43567.1 7p14.3-p14.2 2006-04-26 ENSG00000173852 ENSG00000173852 23333 22205 protein-coding gene gene with protein product 613892 NA Standard NM_015283 NA Approved KIAA0877 uc003tem.4 Q2PZI1 OTTHUMG00000154888 ENST00000310974.4:c.1203+44A>G chr7.hg19:g.34989364T>C NA O94954|Q4G151 hg19 CCDS43567.1 0.02 6.910926 ATGxATG COVERED NOVEL DPY19L1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000337506.1 1 9.325453 KEEP 0 0 0 31 932 TT 0.999997 0.999997 0 - 6 60 226 1 0 14.103651 170 60 6102 276 ENST00000310974.4 0.034091 1 DPY19L1 23333 __UNKNOWN__ __UNKNOWN__ 7 35050227 35050227 __UNKNOWN__ Intron SNP C C T rs328939 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:35050227C>T ENST00000310974.4 - 6 596 NM_015283.1 NP_056098.1 Q2PZI1 D19L1_HUMAN dpy-19-like 1 (C. elegans) NA NA integral component of membrane (GO:0016021)|membrane (GO:0016020) transferase activity, transferring glycosyl groups (GO:0016757) endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 31 AATTACCTTACGTGTCTAGCA 0.308 NA c||| 1090 0.217652 0.2057 0.2536 5008 , , NA 16683 0.1329 NA 0.2873 False NA ,,, NA NA NA 2504 0.2239 NA NA NA NA 0 25 16 19 NA NA 7 NA 35050227 690 1543 2233 SO:0001627 intron_variant AB020684 CCDS43567.1 7p14.3-p14.2 2006-04-26 ENSG00000173852 ENSG00000173852 23333 22205 protein-coding gene gene with protein product 613892 NA Standard NM_015283 NA Approved KIAA0877 uc003tem.4 Q2PZI1 OTTHUMG00000154888 ENST00000310974.4:c.452-54G>A chr7.hg19:g.35050227C>T NA O94954|Q4G151 hg19 CCDS43567.1 0.02 4.074942 TTAxGTG COVERED NOVEL DPY19L1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000337506.1 0 5.718385 KEEP 0 0 0 19 650 CC 0.99986 0.99986 0 - 5 49 188 0 0 11.870795 132 60 4576 195 ENST00000310974.4 0.036496 1 DPY19L1 23333 __UNKNOWN__ __UNKNOWN__ 7 35058177 35058177 __UNKNOWN__ Intron SNP A A G rs10282006 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:35058177A>G ENST00000310974.4 - 2 249 NM_015283.1 NP_056098.1 Q2PZI1 D19L1_HUMAN dpy-19-like 1 (C. elegans) NA NA integral component of membrane (GO:0016021)|membrane (GO:0016020) transferase activity, transferring glycosyl groups (GO:0016757) endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 31 GAAAAAAACAATCTTACCAGT 0.299 NA A||| 823 0.164337 0.0446 0.2248 5008 , , NA 16123 0.1319 NA 0.2644 False NA ,,, NA NA NA 2504 0.2137 NA NA NA NA 0 A 270,3334 11,248,1543 52 48 49 -1.1 0 7 dbSNP_119 49 2411,5721 347,1717,2002 no intron DPY19L1 NM_015283.1 358,1965,3545 GG,GA,AA 29.6483,7.4917,22.8442 35058177 2681,9055 1802 4066 5868 SO:0001627 intron_variant AB020684 CCDS43567.1 7p14.3-p14.2 2006-04-26 ENSG00000173852 ENSG00000173852 23333 22205 protein-coding gene gene with protein product 613892 NA Standard NM_015283 NA Approved KIAA0877 uc003tem.4 Q2PZI1 OTTHUMG00000154888 ENST00000310974.4:c.104+6T>C chr7.hg19:g.35058177A>G NA O94954|Q4G151 hg19 CCDS43567.1 0.02 2.63105 ACAxTCT COVERED NOVEL DPY19L1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000337506.1 1 4.51306 KEEP 0 0 0 15 461 AA 0.99649 0.96403 0 - 5 60 193 0 0 14.53793 47 60 1738 86 ENST00000310974.4 0.096154 0.967425 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 35119776 35119776 __UNKNOWN__ IGR SNP A A T rs1052355 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:35119776A>T NA NA DPY19L1 (42123 upstream) : DPY19L2P1 (9679 downstream) NA NA NA TATTTTTTTAAGTCTCTTTTC 0.259 NA T||| 1640 0.327476 0.3207 0.3343 5008 , , NA 14719 0.2143 NA 0.4095 False NA ,,, NA NA NA 2504 0.364 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.35119776A>T NA hg19 0.02 4.03949 TTAxGTC COVERED NOVEL 0 2 6.018312 KEEP 1 0 0 20 651 AA 0.999869 0.999869 0 16 60 584 0 0 44.381968 125 60 4448 175 0.113475 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 35120352 35120352 __UNKNOWN__ IGR SNP C C A rs17800067 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:35120352C>A NA NA DPY19L1 (42699 upstream) : DPY19L2P1 (9103 downstream) NA NA NA AGATGAAAAGCCGTTTGCTTT 0.313 NA A||| 1640 0.327476 0.3207 0.3343 5008 , , NA 15966 0.2143 NA 0.4095 False NA ,,, NA NA NA 2504 0.364 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.35120352C>A NA hg19 0.02 16.851111 AAGxCGT COVERED NOVEL 0 2 14.446652 KEEP 0 0 0 48 1688 CC 1 1 0 19 60 654 0 0 41.064701 409 60 15205 571 0.044393 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 35221053 35221053 __UNKNOWN__ IGR SNP A A G rs6950920 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:35221053A>G NA NA DPY19L2P1 (73707 upstream) : TBX20 (20988 downstream) NA NA NA GTCATCTCCCATTCCAAAGAT 0.308 NA G||| 1536 0.306709 0.3079 0.2767 5008 , , NA 14101 0.1984 NA 0.3976 False NA ,,, NA NA NA 2504 0.3446 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.35221053A>G NA hg19 0.02 9.45309 CCCxTTC COVERED NOVEL 0 2 9.929018 KEEP 0 0 0 33 1027 AA 0.999998 0.999998 0 13 60 496 0 0 33.880528 226 60 8469 328 0.054393 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 35225518 35225518 __UNKNOWN__ IGR SNP C C A rs10262841 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:35225518C>A NA NA DPY19L2P1 (78172 upstream) : TBX20 (16523 downstream) NA NA NA CTCCTGGCGCCCCCTGGCAGT 0.652 NA C||| 1000 0.199681 0.1089 0.2421 5008 , , NA 14928 0.1855 NA 0.2942 False NA ,,, NA NA NA 2504 0.2096 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.35225518C>A NA hg19 0.02 4.354995 CGCxCCC COVERED NOVEL 0 0 9.932143 KEEP 0 0 0 33 1164 CC 0.999998 0.999982 0 7 60 225 0 0 14.684539 98 60 3608 177 0.066667 0.999984 HERPUD2 64224 __UNKNOWN__ __UNKNOWN__ 7 35673870 35673870 __UNKNOWN__ Intron SNP C C T rs2305334 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:35673870C>T ENST00000396081.1 - 7 1864 HERPUD2_ENST00000311350.3_Intron NM_022373.4 NP_071768.3 Q9BSE4 HERP2_HUMAN HERPUD family member 2 NA NA response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283) integral component of membrane (GO:0016021) kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1) 18 GGTCCCATACCGTGCTGGGAA 0.343 NA C||| 968 0.193291 0.2776 0.1772 5008 , , NA 17906 0.2708 NA 0.1203 False NA ,,, NA NA NA 2504 0.0859 NA NA NA NA 0 C 476,1276 52,372,452 63 59 60 1.8 0 7 dbSNP_100 60 556,3426 38,480,1473 no intron HERPUD2 NM_022373.4 90,852,1925 TT,TC,CC 13.9628,27.1689,17.9979 35673870 1032,4702 876 1991 2867 SO:0001627 intron_variant BC020264 CCDS5446.1 7p14.2 2006-03-20 2006-03-20 ENSG00000122557 ENSG00000122557 64224 21915 protein-coding gene gene with protein product homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 2 NA Standard NM_022373 NM_022373 NA Approved FLJ22313 uc003tes.4 Q9BSE4 OTTHUMG00000128687 ENST00000396081.1:c.1059+51G>A chr7.hg19:g.35673870C>T NA A4D1Y8|Q9H6F9 hg19 CCDS5446.1 0.02 9.587363 TACxGTG COVERED NOVEL HERPUD2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250584.1 1 8.124254 KEEP 0 0 0 27 890 CC 0.999988 0.999988 0 - 14 60 510 0 0 35.667757 187 60 6564 242 ENST00000396081.1 0.069652 1 SEPT7 989 __UNKNOWN__ __UNKNOWN__ 7 35928551 35928551 __UNKNOWN__ Intron SNP A A G rs6945909 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:35928551A>G ENST00000435235.1 + 10 1145 SEPT7_ENST00000494488.2_Intron|SEPT7_ENST00000432293.2_Intron|SEPT7_ENST00000399034.2_Intron|SEPT7_ENST00000350320.6_Intron|SEPT7_ENST00000399035.3_Intron Q16181 SEPT7_HUMAN septin 7 NA NA cilium morphogenesis (GO:0060271)|cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein heterooligomerization (GO:0051291)|regulation of embryonic cell shape (GO:0016476) actin cytoskeleton (GO:0015629)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|septin complex (GO:0031105)|stress fiber (GO:0001725) GTP binding (GO:0005525)|identical protein binding (GO:0042802)|structural molecule activity (GO:0005198) central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1) 14 AGTGTTTATCATATCTCAGCT 0.313 NA A||| 1516 0.302716 0.3661 0.2349 5008 , , NA 19840 0.3849 NA 0.3131 False NA ,,, NA NA NA 2504 0.1697 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant S72008 CCDS75582.1 7p14.2 2013-01-21 2005-01-11 2005-01-12 ENSG00000122545 ENSG00000122545 989 Septins 1717 protein-coding gene gene with protein product 603151 CDC10 cell division cycle 10 homolog (S. cerevisiae) CDC10 NA 8037772 Standard NM_001788 NM_001788 NA Approved CDC3, SEPT7A uc011kau.2 Q16181 OTTHUMG00000155063 ENST00000435235.1:c.714-1727A>G chr7.hg19:g.35928551A>G NA Q52M76|Q6NX50 hg19 0.02 1.919043 ATCxTAT COVERED NOVEL SEPT7-001 NOVEL basic protein_coding NA protein_coding OTTHUMT00000338285.1 5 7.822209 KEEP 0 0 0 26 800 AA 0.999957 0.999913 0 + 6 60 217 0 0 14.736787 93 60 3465 160 ENST00000435235.1 0.060606 0.999956 EEPD1 80820 __UNKNOWN__ __UNKNOWN__ 7 36340811 36340811 __UNKNOWN__ 3'UTR SNP T T G rs3735402 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:36340811T>G ENST00000242108.4 + 0 4424 NM_030636.2 NP_085139.2 Q7L9B9 EEPD1_HUMAN endonuclease/exonuclease/phosphatase family domain containing 1 NA NA DNA repair (GO:0006281) DNA binding (GO:0003677) endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1) 18 TCACTGGCCCTTTTGCTTTTC 0.547 NA T||| 1808 0.361022 0.2882 0.3256 5008 , , NA 17573 0.3502 NA 0.334 False NA ,,, NA NA NA 2504 0.5235 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK027386 CCDS34619.1 7p14.2 2007-12-07 2007-12-07 ENSG00000122547 ENSG00000122547 80820 22223 protein-coding gene gene with protein product NA Standard NM_030636 NM_030636 NA Approved KIAA1706 uc003tfa.3 Q7L9B9 OTTHUMG00000154904 ENST00000242108.4:c.*1996T>G chr7.hg19:g.36340811T>G NA Q96K64|Q9C0F7 hg19 CCDS34619.1 0.02 6.537491 CCCxTTT COVERED NOVEL EEPD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000337602.1 3 5.687131 KEEP 0 2 69 43 1368 TT 1 1 0 + 10 60 352 0 0 23.391639 163 60 5880 254 ENST00000242108.4 0.057803 1 KIAA0895 23366 __UNKNOWN__ __UNKNOWN__ 7 36366569 36366569 __UNKNOWN__ Intron SNP A A T rs196655 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:36366569A>T ENST00000436884.1 - 7 1529 KIAA0895_ENST00000317020.6_Intron|KIAA0895_ENST00000338533.5_Intron|KIAA0895_ENST00000453212.1_Intron|KIAA0895_ENST00000440378.1_Intron|KIAA0895_ENST00000297063.6_Intron NM_001199708.1 NP_001186637.1 Q8NCT3 K0895_HUMAN KIAA0895 NA NA breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 26 ATGTAACTACAATGTACATTT 0.313 NA A||| 2294 0.458067 0.2534 0.4971 5008 , , NA 17315 0.5099 NA 0.4563 False NA ,,, NA NA NA 2504 0.6554 NA NA NA NA 0 A ,,,, 1097,2519 176,745,887 45 43 44 ,,,, -1.2 0 7 dbSNP_79 44 3638,4502 806,2026,1238 no intron,intron,intron,intron,intron KIAA0895 NM_001100425.1,NM_001199706.1,NM_001199707.1,NM_001199708.1,NM_015314.2 ,,,, 982,2771,2125 TT,TA,AA 44.6929,30.3374,40.2773 ,,,, ,,,, 36366569 4735,7021 1808 4070 5878 SO:0001627 intron_variant BC028678 CCDS43570.1, CCDS47573.1, CCDS56482.1, CCDS56483.1, CCDS56484.1, CCDS75583.1 7p14.2 2008-11-27 ENSG00000164542 ENSG00000164542 23366 22206 protein-coding gene gene with protein product NA Standard NM_015314 NM_015314 NA Approved uc003tfd.2 Q8NCT3 OTTHUMG00000154939 ENST00000436884.1:c.1096-42T>A chr7.hg19:g.36366569A>T NA B4DF35|B7ZLT4|B9EGB9|O94969|Q0VGC1|Q7Z4L2 hg19 CCDS56482.1 0.02 4.762679 TACxATG COVERED NOVEL KIAA0895-006 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000337722.1 2 6.317346 KEEP 0 0 0 21 618 AA 0.999869 0.99985 0 - 8 60 299 0 0 21.470901 96 60 3390 134 ENST00000436884.1 0.076923 0.999981 KIAA0895 23366 __UNKNOWN__ __UNKNOWN__ 7 36395294 36395294 __UNKNOWN__ Intron SNP A A C rs197327 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:36395294A>C ENST00000436884.1 - 2 848 KIAA0895_ENST00000415803.2_3'UTR|KIAA0895_ENST00000317020.6_Intron|KIAA0895_ENST00000338533.5_Intron|KIAA0895_ENST00000480192.1_Intron|KIAA0895_ENST00000453212.1_Intron|KIAA0895_ENST00000440378.1_Intron|KIAA0895_ENST00000297063.6_Intron NM_001199708.1 NP_001186637.1 Q8NCT3 K0895_HUMAN KIAA0895 NA NA breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 26 TATTATCAGCAAAAATGCTAA 0.383 NA A||| 2230 0.445288 0.233 0.4971 5008 , , NA 17674 0.4921 NA 0.4523 False NA ,,, NA NA NA 2504 0.6401 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC028678 CCDS43570.1, CCDS47573.1, CCDS56482.1, CCDS56483.1, CCDS56484.1, CCDS75583.1 7p14.2 2008-11-27 ENSG00000164542 ENSG00000164542 23366 22206 protein-coding gene gene with protein product NA Standard NM_015314 NM_015314 NA Approved uc003tfd.2 Q8NCT3 OTTHUMG00000154939 ENST00000436884.1:c.414+1216T>G chr7.hg19:g.36395294A>C NA B4DF35|B7ZLT4|B9EGB9|O94969|Q0VGC1|Q7Z4L2 hg19 CCDS56482.1 0.02 6.594933 AGCxAAA COVERED NOVEL KIAA0895-006 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000337722.1 1 13.840943 KEEP 0 0 0 46 1424 AA 1 1 0 - 7 60 258 0 0 16.737252 149 60 5551 258 ENST00000436884.1 0.044872 1 KIAA0895 23366 __UNKNOWN__ __UNKNOWN__ 7 36396358 36396358 __UNKNOWN__ Intron SNP G G A rs197328 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:36396358G>A ENST00000436884.1 - 2 848 KIAA0895_ENST00000415803.2_3'UTR|KIAA0895_ENST00000317020.6_Intron|KIAA0895_ENST00000338533.5_Intron|KIAA0895_ENST00000480192.1_Intron|KIAA0895_ENST00000453212.1_Intron|KIAA0895_ENST00000440378.1_Intron|KIAA0895_ENST00000297063.6_Intron NM_001199708.1 NP_001186637.1 Q8NCT3 K0895_HUMAN KIAA0895 NA NA breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 26 GGTAATACTCGTCTTGTCGCA 0.303 NA A||| 2229 0.445088 0.233 0.4971 5008 , , NA 19192 0.4921 NA 0.4513 False NA ,,, NA NA NA 2504 0.6401 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC028678 CCDS43570.1, CCDS47573.1, CCDS56482.1, CCDS56483.1, CCDS56484.1, CCDS75583.1 7p14.2 2008-11-27 ENSG00000164542 ENSG00000164542 23366 22206 protein-coding gene gene with protein product NA Standard NM_015314 NM_015314 NA Approved uc003tfd.2 Q8NCT3 OTTHUMG00000154939 ENST00000436884.1:c.414+152C>T chr7.hg19:g.36396358G>A NA B4DF35|B7ZLT4|B9EGB9|O94969|Q0VGC1|Q7Z4L2 hg19 CCDS56482.1 0.02 4.027085 CTCxTCT COVERED NOVEL KIAA0895-006 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000337722.1 1 8.125249 KEEP 0 0 0 27 916 GG 0.999988 0.999987 0 - 7 60 246 0 0 16.084298 124 60 4303 174 ENST00000436884.1 0.053435 1 ANLN 54443 __UNKNOWN__ __UNKNOWN__ 7 36459076 36459076 __UNKNOWN__ Silent SNP G G A rs17213431 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:36459076G>A ENST00000265748.2 + 10 2078 c.1857G>A c.(1855-1857)gtG>gtA p.V619V ANLN_ENST00000396068.2_Silent_p.V582V NM_018685.2 NP_061155.2 Q9NQW6 ANLN_HUMAN anillin, actin binding protein 619 Interaction with F-actin. NA hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921) actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634) actin binding (GO:0003779) breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2) 45 CAGTTGGTGTGGTAAGTCCAG 0.418 NA G||| 357 0.0712859 0.0045 0.0677 5008 , , NA 20963 0.0337 NA 0.1382 False NA ,,, NA NA NA 2504 0.1339 NA NA NA NA 0 G 143,4263 99.8+/-138.5 7,129,2067 90 83 85 1857 1 0.4 7 dbSNP_123 85 1135,7465 234.9+/-267.6 60,1015,3225 no coding-synonymous ANLN NM_018685.2 67,1144,5292 AA,AG,GG 13.1977,3.2456,9.8262 619/1125 36459076 1278,11728 2203 4300 6503 SO:0001819 synonymous_variant AF273437 CCDS5447.1, CCDS64628.1 7p15-p14 2013-01-10 2006-08-22 ENSG00000011426 ENSG00000011426 54443 Pleckstrin homology (PH) domain containing 14082 protein-coding gene gene with protein product anillin (Drosophila Scraps homolog), actin binding protein, anillin, actin binding protein (scraps homolog, Drosophila) NA 10931866 Standard NM_018685 NM_001284301 NA Approved ANILLIN, Scraps, scra uc003tff.3 Q9NQW6 OTTHUMG00000023143 ENST00000265748.2:c.1857G>A chr7.hg19:g.36459076G>A NA Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0 hg19 CCDS5447.1 0.02 17.542014 TGTxGTA COVERED NOVEL ANLN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000218582.3 1 7.458177 KEEP 0 1 26 34 1212 GG 0.999999 0.999999 0 + 22 60 790 0 0 52.382024 384 60 14061 519 ENST00000265748.2 0.054187 1 AOAH 313 __UNKNOWN__ __UNKNOWN__ 7 36763560 36763560 __UNKNOWN__ Intron SNP C C T rs6462703 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:36763560C>T ENST00000431169.1 - 1 428 AOAH_ENST00000258749.5_Intron|AOAH_ENST00000535891.1_Intron NM_001177506.1 NP_001170977.1 P28039 AOAH_HUMAN acyloxyacyl hydrolase (neutrophil) NA NA inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|lipopolysaccharide metabolic process (GO:0008653)|negative regulation of inflammatory response (GO:0050728) extracellular region (GO:0005576) acyloxyacyl hydrolase activity (GO:0050528)|catalytic activity (GO:0003824)|lipoprotein lipase activity (GO:0004465) NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 41 TGATTTATTACGCAAGCAAAG 0.378 NA T||| 1522 0.303914 0.5272 0.2205 5008 , , NA 19343 0.253 NA 0.2634 False NA ,,, NA NA NA 2504 0.1554 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC025698 CCDS5448.1, CCDS55102.1, CCDS75584.1 7p14-p12 2014-03-14 ENSG00000136250 ENSG00000136250 313 3.1.1.77 548 protein-coding gene gene with protein product 102593 NA 1883828 Standard NM_001637 NM_001637 NA Approved uc022abu.1 P28039 OTTHUMG00000023566 ENST00000431169.1:c.127+66G>A chr7.hg19:g.36763560C>T NA A4D1Y5|B7Z490|Q53F13 hg19 0.02 4.414139 TTAxGCA COVERED NOVEL AOAH-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000337730.1 0 3.611673 KEEP 0 0 0 12 414 CC 0.993634 0.993632 0 - 16 60 584 0 0 45.51323 105 60 3782 151 ENST00000431169.1 0.132231 0.999999 AOAH 313 __UNKNOWN__ __UNKNOWN__ 7 36763688 36763688 __UNKNOWN__ Silent SNP C C T rs2228411 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:36763688C>T ENST00000431169.1 - 1 366 c.66G>A c.(64-66)tcG>tcA p.S22S AOAH_ENST00000258749.5_Silent_p.S22S|AOAH_ENST00000535891.1_Silent_p.S22S NM_001177506.1 NP_001170977.1 P28039 AOAH_HUMAN acyloxyacyl hydrolase (neutrophil) 22 NA inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|lipopolysaccharide metabolic process (GO:0008653)|negative regulation of inflammatory response (GO:0050728) extracellular region (GO:0005576) acyloxyacyl hydrolase activity (GO:0050528)|catalytic activity (GO:0003824)|lipoprotein lipase activity (GO:0004465) p.S22S(1) NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 41 CTGGAGAGGCCGAGGACTGAA 0.512 NA C||| 1894 0.378195 0.553 0.2867 5008 , , NA 16715 0.4177 NA 0.325 False NA ,,, NA NA NA 2504 0.2209 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) C ,, 2299,2107 602.4+/-389.9 610,1079,514 57 63 61 66,66,66 -2.8 0 7 dbSNP_98 61 3052,5548 469.0+/-367.5 554,1944,1802 no coding-synonymous,coding-synonymous,coding-synonymous AOAH NM_001177506.1,NM_001177507.1,NM_001637.3 ,, 1164,3023,2316 TT,TC,CC 35.4884,47.8212,41.1425 ,, 22/689,22/544,22/576 36763688 5351,7655 2203 4300 6503 SO:0001819 synonymous_variant BC025698 CCDS5448.1, CCDS55102.1, CCDS75584.1 7p14-p12 2014-03-14 ENSG00000136250 ENSG00000136250 313 3.1.1.77 548 protein-coding gene gene with protein product 102593 NA 1883828 Standard NM_001637 NM_001637 NA Approved uc022abu.1 P28039 OTTHUMG00000023566 ENST00000431169.1:c.66G>A chr7.hg19:g.36763688C>T NA A4D1Y5|B7Z490|Q53F13 hg19 0.02 6.822331 GGCxGAG COVERED NOVEL AOAH-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000337730.1 1 11.731622 KEEP 0 0 0 39 1342 CC 1 1 0 - 15 60 563 0 0 40.78015 172 60 5862 294 ENST00000431169.1 0.080214 1 AOAH 313 __UNKNOWN__ __UNKNOWN__ 7 36763748 36763748 __UNKNOWN__ Silent SNP C C T rs149026099 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:36763748C>T ENST00000431169.1 - 1 306 c.6G>A c.(4-6)caG>caA p.Q2Q AOAH_ENST00000258749.5_Silent_p.Q2Q|AOAH_ENST00000535891.1_Silent_p.Q2Q NM_001177506.1 NP_001170977.1 P28039 AOAH_HUMAN acyloxyacyl hydrolase (neutrophil) 2 NA inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|lipopolysaccharide metabolic process (GO:0008653)|negative regulation of inflammatory response (GO:0050728) extracellular region (GO:0005576) acyloxyacyl hydrolase activity (GO:0050528)|catalytic activity (GO:0003824)|lipoprotein lipase activity (GO:0004465) NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 41 TCCAGGGGGACTGCATCTCCG 0.567 NA C||| 18 0.00359425 0.0 0.0 5008 , , NA 16278 0.0159 NA 0.0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 66 74 71 NA NA 7 NA 36763748 2203 4300 6503 SO:0001819 synonymous_variant BC025698 CCDS5448.1, CCDS55102.1, CCDS75584.1 7p14-p12 2014-03-14 ENSG00000136250 ENSG00000136250 313 3.1.1.77 548 protein-coding gene gene with protein product 102593 NA 1883828 Standard NM_001637 NM_001637 NA Approved uc022abu.1 P28039 OTTHUMG00000023566 ENST00000431169.1:c.6G>A chr7.hg19:g.36763748C>T NA A4D1Y5|B7Z490|Q53F13 hg19 0.02 4.346718 GGAxTGC COVERED NOVEL AOAH-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000337730.1 1 6.922263 KEEP 0 0 0 23 812 CC 0.999892 0.999879 0 - 11 60 396 0 0 29.513048 95 60 3538 145 ENST00000431169.1 0.103774 0.999987 AOAH 313 __UNKNOWN__ __UNKNOWN__ 7 36764123 36764123 __UNKNOWN__ 5'UTR SNP T T C rs3807605 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:36764123T>C ENST00000258749.5 - 0 30 AOAH_ENST00000535891.1_5'UTR NM_001637.3 NP_001628.1 P28039 AOAH_HUMAN acyloxyacyl hydrolase (neutrophil) NA NA inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|lipopolysaccharide metabolic process (GO:0008653)|negative regulation of inflammatory response (GO:0050728) extracellular region (GO:0005576) acyloxyacyl hydrolase activity (GO:0050528)|catalytic activity (GO:0003824)|lipoprotein lipase activity (GO:0004465) NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 41 ATAAACCCCGTGAGCCTCGAG 0.483 NA t||| 2011 0.401558 0.556 0.3372 5008 , , NA 18103 0.4187 NA 0.3708 False NA ,,, NA NA NA 2504 0.2526 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant BC025698 CCDS5448.1, CCDS55102.1, CCDS75584.1 7p14-p12 2014-03-14 ENSG00000136250 ENSG00000136250 313 3.1.1.77 548 protein-coding gene gene with protein product 102593 NA 1883828 Standard NM_001637 NM_001637 NA Approved uc022abu.1 P28039 OTTHUMG00000023566 ENST00000258749.5:c.-370A>G chr7.hg19:g.36764123T>C NA A4D1Y5|B7Z490|Q53F13 hg19 CCDS5448.1 0.02 2.199815 CCGxGAG COVERED NOVEL AOAH-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000219829.2 1 2.708075 KEEP 0 0 0 9 283 TT 0.99254 0.98766 0 - 9 60 304 0 0 23.216968 58 60 2114 86 ENST00000258749.5 0.134328 0.995084 ELMO1 9844 __UNKNOWN__ __UNKNOWN__ 7 37250727 37250727 __UNKNOWN__ Intron SNP C C T rs2241169 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:37250727C>T ENST00000310758.4 - 13 1734 ELMO1_ENST00000448602.1_Intron|ELMO1_ENST00000442504.1_Intron NM_001206480.1|NM_014800.10 NP_001193409.1|NP_055615.8 Q92556 ELMO1_HUMAN engulfment and cell motility 1 NA NA actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886) SH3 domain binding (GO:0017124) breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 58 AGATACATTCCGGGCTAACTA 0.353 NA C||| 1019 0.203474 0.3056 0.1513 5008 , , NA 20646 0.129 NA 0.2187 False NA ,,, NA NA NA 2504 0.1636 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF398885 CCDS5449.1, CCDS5450.1 7p14.1 2012-07-10 2006-01-20 ENSG00000155849 ENSG00000155849 9844 Engulfment and cell motility proteins 16286 protein-coding gene gene with protein product 606420 engulfment and cell motility 1 (ced-12 homolog, C. elegans) NA 11595183 Standard NM_130442 NM_001039459 NA Approved KIAA0281, CED12, ELMO-1, CED-12 uc003tfk.2 Q92556 OTTHUMG00000023701 ENST00000310758.4:c.1086+263G>A chr7.hg19:g.37250727C>T NA A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1 hg19 CCDS5449.1 0.02 2.271375 TTCxGGG COVERED NOVEL ELMO1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000219830.4 0 8.231119 KEEP 0 3 96 61 2083 CC 1 0.999895 0 - 6 60 235 0 0 16.702639 87 60 3098 197 ENST00000310758.4 0.064516 0.999895 ELMO1 9844 __UNKNOWN__ __UNKNOWN__ 7 37298800 37298800 __UNKNOWN__ Silent SNP C C T rs2717968 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:37298800C>T ENST00000310758.4 - 6 1046 c.399G>A c.(397-399)gtG>gtA p.V133V ELMO1_ENST00000448602.1_Silent_p.V133V|ELMO1_ENST00000442504.1_Silent_p.V133V NM_001206480.1|NM_014800.10 NP_001193409.1|NP_055615.8 Q92556 ELMO1_HUMAN engulfment and cell motility 1 133 NA actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886) SH3 domain binding (GO:0017124) breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 58 TGCCGCTCTCCACCATCTGCG 0.517 NA C||| 1461 0.291733 0.3381 0.3516 5008 , , NA 19135 0.1944 NA 0.3012 False NA ,,, NA NA NA 2504 0.2771 NA NA NA NA 0 C ,, 1476,2930 474.6+/-357.0 255,966,982 51 50 50 399,399,399 -10.8 0.2 7 dbSNP_100 50 2536,6064 414.0+/-351.3 362,1812,2126 no coding-synonymous,coding-synonymous,coding-synonymous ELMO1 NM_001206480.1,NM_001206482.1,NM_014800.10 ,, 617,2778,3108 TT,TC,CC 29.4884,33.4998,30.8473 ,, 133/728,133/728,133/728 37298800 4012,8994 2203 4300 6503 SO:0001819 synonymous_variant AF398885 CCDS5449.1, CCDS5450.1 7p14.1 2012-07-10 2006-01-20 ENSG00000155849 ENSG00000155849 9844 Engulfment and cell motility proteins 16286 protein-coding gene gene with protein product 606420 engulfment and cell motility 1 (ced-12 homolog, C. elegans) NA 11595183 Standard NM_130442 NM_001039459 NA Approved KIAA0281, CED12, ELMO-1, CED-12 uc003tfk.2 Q92556 OTTHUMG00000023701 ENST00000310758.4:c.399G>A chr7.hg19:g.37298800C>T NA A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1 hg19 CCDS5449.1 0.02 7.001512 CTCxACC COVERED NOVEL ELMO1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000219830.4 0 12.640057 KEEP 0 0 0 42 1414 CC 1 1 0 - 8 60 290 0 0 18.664276 170 60 6267 261 ENST00000310758.4 0.044944 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 37624932 37624932 __UNKNOWN__ IGR SNP A A G rs10951528 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:37624932A>G NA NA ELMO1 (136080 upstream) : GPR141 (98466 downstream) NA NA NA TACAAGTAACAACACAGGGGA 0.413 NA A||| 1183 0.236222 0.2791 0.2262 5008 , , NA 21350 0.3393 NA 0.0477 False NA ,,, NA NA NA 2504 0.273 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.37624932A>G NA hg19 0.02 4.272323 AACxACA COVERED NOVEL 0 1 3.306418 KEEP 0 0 0 11 312 AA 0.993072 0.99305 0 5 60 182 0 0 11.901799 98 60 3577 127 0.048544 0.999978 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 37625109 37625109 __UNKNOWN__ IGR SNP T T C rs10951529 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:37625109T>C NA NA ELMO1 (136257 upstream) : GPR141 (98289 downstream) NA NA NA CCATTCAGAATTGGACCCAGT 0.493 NA C||| 1185 0.236621 0.2791 0.2262 5008 , , NA 22014 0.3393 NA 0.0477 False NA ,,, NA NA NA 2504 0.2751 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.37625109T>C NA hg19 0.02 12.190049 GAAxTGG COVERED NOVEL 0 2 15.345466 KEEP 0 0 0 51 1622 TT 1 1 0 15 60 585 0 0 40.285405 264 60 9560 415 0.053763 1 SFRP4 6424 __UNKNOWN__ __UNKNOWN__ 7 37947164 37947164 __UNKNOWN__ Missense_Mutation SNP G G T rs1802073 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:37947164G>T ENST00000436072.2 - 6 1335 c.958C>A c.(958-960)Cct>Act p.P320T EPDR1_ENST00000476620.1_Intron NM_003014.3 NP_003005.2 Q6FHJ7 SFRP4_HUMAN secreted frizzled-related protein 4 320 NA P -> T (in dbSNP:rs1802073). {ECO:0000269|PubMed:12690205, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.3}. brain development (GO:0007420)|cell differentiation (GO:0030154)|decidualization (GO:0046697)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|menstrual cycle phase (GO:0022601)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of sodium-dependent phosphate transport (GO:2000119)|phosphate ion homeostasis (GO:0055062)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of receptor internalization (GO:0002092)|response to hormone (GO:0009725)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055) cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634) PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 GGAGCAGGAGGCTTTCCCTTT 0.507 NA G||| 2718 0.542732 0.6339 0.5519 5008 , , NA 15574 0.5635 NA 0.3877 False NA ,,, NA NA NA 2504 0.5511 NA NA NA NA 0 G THR/PRO 2501,1905 628.1+/-395.0 727,1047,429 152 148 150 958 3 0.7 7 dbSNP_89 150 3106,5494 474.7+/-368.9 543,2020,1737 yes missense SFRP4 NM_003014.3 38 1270,3067,2166 TT,TG,GG 36.1163,43.2365,43.1109 benign 320/347 37947164 5607,7399 2203 4300 6503 SO:0001583 missense AF026692 CCDS5453.1 7p14.1 2008-07-18 ENSG00000106483 ENSG00000106483 6424 Secreted frizzled-related proteins 10778 protein-coding gene gene with protein product 606570 NA 10211996 Standard NM_003014 NM_003014 NA Approved frpHE, FRP-4, FRPHE uc003tfo.4 Q6FHJ7 OTTHUMG00000023026 ENST00000436072.2:c.958C>A chr7.hg19:g.37947164G>T ENSP00000410715:p.Pro320Thr NA B4DYC1|O14877|Q05BG7|Q1ZYW2|Q4G124|Q6FHM0|Q6PD64 hg19 CCDS5453.1 0.02 7.259599 GAGxCTT COVERED 1105 0.5059523809523809 308 0.6260162601626016 188 0.5193370165745856 310 0.541958041958042 299 0.3944591029023747 G 11.53 1.667161 0.29604 0.567635 0.361163 ENSG00000106483 ENST00000436072;ENST00000446575 T 0.62639 0.01 5.83 3.05 0.35203 . 0.722146 0.13357 N 0.393962 T 0.00012 0.0000 N 0.14661 0.345 0.41364 P 0.012560000000000016 B 0.02656 0.0 B 0.01281 0.0 T 0.46992 -0.9151 9 0.02654 T 1 . 4.4667 0.11692 0.2267:0.0:0.5365:0.2367 rs1802073;rs11557811;rs52829008;rs59033821;rs1802073 320 Q6FHJ7 SFRP4_HUMAN T 320;317 ENSP00000410715:P320T ENSP00000410715:P320T P - 1 0 SFRP4 37913689 0.784000 0.28713 0.662000 0.29724 0.931000 0.56810 0.326000 0.19646 0.371000 0.24564 0.650000 0.86243 CCT NOVEL SFRP4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000220017.2 1 10.204969 KEEP 0 1 19 41 1410 GG 1 1 0 - 11 60 333 0 0 19.450528 228 60 8295 324 ENST00000436072.2 0.046025 1 SFRP4 6424 __UNKNOWN__ __UNKNOWN__ 7 37951735 37951735 __UNKNOWN__ Silent SNP G G A rs61761894 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:37951735G>A ENST00000436072.2 - 4 1154 c.777C>T c.(775-777)taC>taT p.Y259Y EPDR1_ENST00000476620.1_Intron NM_003014.3 NP_003005.2 Q6FHJ7 SFRP4_HUMAN secreted frizzled-related protein 4 259 NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}. NA brain development (GO:0007420)|cell differentiation (GO:0030154)|decidualization (GO:0046697)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|menstrual cycle phase (GO:0022601)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of sodium-dependent phosphate transport (GO:2000119)|phosphate ion homeostasis (GO:0055062)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of receptor internalization (GO:0002092)|response to hormone (GO:0009725)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055) cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634) PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 AGCGCCACTCGTAACACATGA 0.463 NA G||| 286 0.0571086 0.0038 0.0115 5008 , , NA 18802 0.1895 NA 0.0209 False NA ,,, NA NA NA 2504 0.0624 NA NA NA NA 0 G 47,4359 48.9+/-83.8 3,41,2159 175 163 167 777 -9.8 0.2 7 dbSNP_129 167 150,8450 71.6+/-134.2 5,140,4155 no coding-synonymous SFRP4 NM_003014.3 8,181,6314 AA,AG,GG 1.7442,1.0667,1.5147 259/347 37951735 197,12809 2203 4300 6503 SO:0001819 synonymous_variant AF026692 CCDS5453.1 7p14.1 2008-07-18 ENSG00000106483 ENSG00000106483 6424 Secreted frizzled-related proteins 10778 protein-coding gene gene with protein product 606570 NA 10211996 Standard NM_003014 NM_003014 NA Approved frpHE, FRP-4, FRPHE uc003tfo.4 Q6FHJ7 OTTHUMG00000023026 ENST00000436072.2:c.777C>T chr7.hg19:g.37951735G>A NA B4DYC1|O14877|Q05BG7|Q1ZYW2|Q4G124|Q6FHM0|Q6PD64 hg19 CCDS5453.1 0.02 1.728308 CTCxTAA COVERED NOVEL SFRP4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000220017.2 0 6.620281 KEEP 0 0 0 22 712 GG 0.999879 0.999827 0 - 6 60 223 0 0 15.362587 92 60 3103 137 ENST00000436072.2 0.061224 0.999948 SFRP4 6424 __UNKNOWN__ __UNKNOWN__ 7 37953840 37953840 __UNKNOWN__ Silent SNP C C T rs1132552 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:37953840C>T ENST00000436072.2 - 3 944 c.567G>A c.(565-567)acG>acA p.T189T EPDR1_ENST00000476620.1_Intron NM_003014.3 NP_003005.2 Q6FHJ7 SFRP4_HUMAN secreted frizzled-related protein 4 189 NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}. NA brain development (GO:0007420)|cell differentiation (GO:0030154)|decidualization (GO:0046697)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|menstrual cycle phase (GO:0022601)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of sodium-dependent phosphate transport (GO:2000119)|phosphate ion homeostasis (GO:0055062)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of receptor internalization (GO:0002092)|response to hormone (GO:0009725)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055) cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634) PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 TGCTGAGATACGTTGCCAAAG 0.408 NA T||| 2724 0.54393 0.4947 0.5461 5008 , , NA 20152 0.6339 NA 0.4165 False NA ,,, NA NA NA 2504 0.6472 NA NA NA NA 0 T 2086,2320 604.3+/-390.3 467,1152,584 148 139 142 567 -11.5 0.1 7 dbSNP_86 142 3339,5261 643.7+/-400.0 627,2085,1588 no coding-synonymous SFRP4 NM_003014.3 1094,3237,2172 TT,TC,CC 38.8256,47.3445,41.7115 189/347 37953840 5425,7581 2203 4300 6503 SO:0001819 synonymous_variant AF026692 CCDS5453.1 7p14.1 2008-07-18 ENSG00000106483 ENSG00000106483 6424 Secreted frizzled-related proteins 10778 protein-coding gene gene with protein product 606570 NA 10211996 Standard NM_003014 NM_003014 NA Approved frpHE, FRP-4, FRPHE uc003tfo.4 Q6FHJ7 OTTHUMG00000023026 ENST00000436072.2:c.567G>A chr7.hg19:g.37953840C>T NA B4DYC1|O14877|Q05BG7|Q1ZYW2|Q4G124|Q6FHM0|Q6PD64 hg19 CCDS5453.1 0.02 10.951326 ATAxGTT COVERED NOVEL SFRP4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000220017.2 1 32.673883 KEEP 0 2 58 129 4482 CC 1 1 0 - 10 60 378 0 0 23.612427 285 60 10309 540 ENST00000436072.2 0.033898 1 SFRP4 6424 __UNKNOWN__ __UNKNOWN__ 7 37956378 37956378 __UNKNOWN__ 5'UTR SNP C C T rs11557813 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:37956378C>T ENST00000436072.2 - 0 139 EPDR1_ENST00000476620.1_Intron NM_003014.3 NP_003005.2 Q6FHJ7 SFRP4_HUMAN secreted frizzled-related protein 4 NA NA brain development (GO:0007420)|cell differentiation (GO:0030154)|decidualization (GO:0046697)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|menstrual cycle phase (GO:0022601)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of sodium-dependent phosphate transport (GO:2000119)|phosphate ion homeostasis (GO:0055062)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of receptor internalization (GO:0002092)|response to hormone (GO:0009725)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055) cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634) PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 CGAACCCGCCCGGGCAGCTCC 0.726 NA C||| 465 0.0928514 0.1346 0.0231 5008 , , NA 12579 0.1875 NA 0.0209 False NA ,,, NA NA NA 2504 0.0624 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF026692 CCDS5453.1 7p14.1 2008-07-18 ENSG00000106483 ENSG00000106483 6424 Secreted frizzled-related proteins 10778 protein-coding gene gene with protein product 606570 NA 10211996 Standard NM_003014 NM_003014 NA Approved frpHE, FRP-4, FRPHE uc003tfo.4 Q6FHJ7 OTTHUMG00000023026 ENST00000436072.2:c.-239G>A chr7.hg19:g.37956378C>T NA B4DYC1|O14877|Q05BG7|Q1ZYW2|Q4G124|Q6FHM0|Q6PD64 hg19 CCDS5453.1 0.02 8.035328 GCCxGGG COVERED NOVEL SFRP4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000220017.2 2 65.293581 KEEP 0 0 0 217 7624 CC 1 1 0 - 7 60 251 0 0 14.83946 223 60 7930 601 ENST00000436072.2 0.030435 1 EPDR1 54749 __UNKNOWN__ __UNKNOWN__ 7 37966201 37966201 __UNKNOWN__ Intron SNP T T C rs12666164 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:37966201T>C ENST00000425345.1 + 1 132 EPDR1_ENST00000559325.1_Intron|EPDR1_ENST00000423717.1_Intron|EPDR1_ENST00000199448.4_Intron|EPDR1_ENST00000476620.1_Intron NM_001242948.1 NP_001229877.1 Q9UM22 EPDR1_HUMAN ependymin related 1 NA NA cell-matrix adhesion (GO:0007160) extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764) calcium ion binding (GO:0005509) breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 22 cttttaaagattgcaggccag 0.378 NA T||| 855 0.170727 0.0499 0.2262 5008 , , NA 20222 0.1448 NA 0.341 False NA ,,, NA NA NA 2504 0.1462 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC018299 CCDS5454.1, CCDS5454.2, CCDS59051.1, CCDS59052.1 7p14.1 2013-07-31 2013-07-31 ENSG00000086289 ENSG00000086289 54749 17572 protein-coding gene gene with protein product ependymin related protein 1 (zebrafish) NA 11749721, 11248421 Standard NM_017549 NM_001242946 NA Approved MERP-1, MERP1, UCC1, EPDR uc003tfp.4 Q9UM22 OTTHUMG00000102187 ENST00000425345.1:c.86+5148T>C chr7.hg19:g.37966201T>C NA A8K4C0|C9JYS3|Q06BL0|Q99M77 hg19 CCDS59052.1 0.02 10.627225 AGAxTGC COVERED NOVEL EPDR1-002 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000338085.1 3 9.322945 KEEP 0 0 0 31 872 TT 0.999997 0.999997 0 + 10 60 375 0 0 23.62158 265 60 9599 307 ENST00000425345.1 0.036364 1 EPDR1 54749 __UNKNOWN__ __UNKNOWN__ 7 37966513 37966513 __UNKNOWN__ Intron SNP A A G rs56270138 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:37966513A>G ENST00000425345.1 + 1 132 EPDR1_ENST00000559325.1_Intron|EPDR1_ENST00000423717.1_Intron|EPDR1_ENST00000199448.4_Intron|EPDR1_ENST00000476620.1_Intron NM_001242948.1 NP_001229877.1 Q9UM22 EPDR1_HUMAN ependymin related 1 NA NA cell-matrix adhesion (GO:0007160) extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764) calcium ion binding (GO:0005509) breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 22 aagccttctaattttgttcta 0.333 NA A||| 855 0.170727 0.0499 0.2262 5008 , , NA 20441 0.1448 NA 0.341 False NA ,,, NA NA NA 2504 0.1462 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC018299 CCDS5454.1, CCDS5454.2, CCDS59051.1, CCDS59052.1 7p14.1 2013-07-31 2013-07-31 ENSG00000086289 ENSG00000086289 54749 17572 protein-coding gene gene with protein product ependymin related protein 1 (zebrafish) NA 11749721, 11248421 Standard NM_017549 NM_001242946 NA Approved MERP-1, MERP1, UCC1, EPDR uc003tfp.4 Q9UM22 OTTHUMG00000102187 ENST00000425345.1:c.86+5460A>G chr7.hg19:g.37966513A>G NA A8K4C0|C9JYS3|Q06BL0|Q99M77 hg19 CCDS59052.1 0.02 4.026673 CTAxTTT COVERED NOVEL EPDR1-002 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000338085.1 2 3.61029 KEEP 0 0 0 12 356 AA 0.993634 0.993633 0 + 7 60 261 0 0 17.580369 124 60 4567 142 ENST00000425345.1 0.053435 1 STARD3NL 83930 __UNKNOWN__ __UNKNOWN__ 7 38268395 38268395 __UNKNOWN__ Intron SNP C C T rs7795499 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:38268395C>T ENST00000009041.7 + 8 906 STARD3NL_ENST00000434197.1_Intron|STARD3NL_ENST00000396013.1_Intron|STARD3NL_ENST00000544203.1_Intron NM_032016.3 NP_114405.1 O95772 MENTO_HUMAN STARD3 N-terminal like NA NA endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020) endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 10 TTCTCCACCACGTAGGATCTG 0.299 NA T||| 2182 0.435703 0.3192 0.4885 5008 , , NA 17567 0.4812 NA 0.4473 False NA ,,, NA NA NA 2504 0.4969 NA NA NA NA 0 T 1522,2884 673.6+/-402.8 252,1018,933 99 98 98 -1.6 0 7 dbSNP_116 98 3908,4690 604.0+/-394.7 926,2056,1317 no intron STARD3NL NM_032016.3 1178,3074,2250 TT,TC,CC 45.4524,34.5438,41.7564 38268395 5430,7574 2203 4299 6502 SO:0001627 intron_variant AJ492267 CCDS5455.1 7p14-p13 2003-02-06 ENSG00000010270 ENSG00000010270 83930 19169 protein-coding gene gene with protein product 611759 NA 12393907 Standard NM_032016 NA Approved MENTHO, MGC3251 uc003tfr.3 O95772 OTTHUMG00000023659 ENST00000009041.7:c.650-5C>T chr7.hg19:g.38268395C>T NA A4D1X0 hg19 CCDS5455.1 0.02 17.186713 CCAxGTA COVERED NOVEL STARD3NL-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000226929.2 1 3.852947 KEEP 0 4 129 58 2030 CC 1 1 0 + 12 60 450 0 0 27.31597 389 60 14137 575 ENST00000009041.7 0.029925 1 TRGC2 6967 __UNKNOWN__ __UNKNOWN__ 7 38289121 38289121 __UNKNOWN__ RNA SNP C C T rs1053756 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:38289121C>T ENST00000436911.2 - 0 52 P03986 TRGC2_HUMAN T cell receptor gamma constant 2 NA NA immune response (GO:0006955)|signal transduction (GO:0007165) integral component of plasma membrane (GO:0005887) transmembrane signaling receptor activity (GO:0004888) NA TTTCAGCAATCGAAGGAAGAA 0.353 NA T||| 2224 0.444089 0.584 0.2867 5008 , , NA 19682 0.4802 NA 0.3797 False NA ,,, NA NA NA 2504 0.3957 NA NA NA NA 0 T 1700,1902 500,700,601 140 156 151 -5.6 0 7 dbSNP_86 151 2527,5599 473,1581,2009 no intergenic 973,2281,2610 TT,TC,CC 31.0977,47.196,36.042 38289121 4227,7501 1801 4063 5864 M15002 7p14 2012-02-07 ENSG00000227191 ENSG00000227191 6967 T cell receptors / TRG locus 12276 other T cell receptor gene T-cell receptor, gamma, constant region C2 615450 TCRGC2 NA 3458221 Standard NG_001336 NG_001336 NA Approved TRGC2(2X), TRGC2(3X) P03986 OTTHUMG00000155215 ENST00000436911.2: chr7.hg19:g.38289121C>T NA hg19 0.02 26.121921 AATxGAA COVERED NOVEL TRGC2-001 KNOWN mRNA_start_NF|cds_start_NF|basic|appris_principal TR_C_gene NA TR_C_gene OTTHUMT00000338821.2 6 21.668989 KEEP 3 0 0 72 2422 CC 1 1 0 - 16 60 598 0 0 35.318789 592 60 21066 836 ENST00000436911.2 0.026316 1 TRGC1 6966 __UNKNOWN__ __UNKNOWN__ 7 38301741 38301741 __UNKNOWN__ RNA SNP T T A rs2392542 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:38301741T>A ENST00000443402.2 - 0 378 NM_001003799.1|NM_001003806.1 NP_001003799.1|NP_001003806.1 P0CF51 TRGC1_HUMAN T cell receptor gamma constant 1 NA NA integral component of membrane (GO:0016021) NA AACAAAATGATCAGGAGGAAG 0.378 NA t||| 2256 0.450479 0.6082 0.2882 5008 , , NA 17779 0.4792 NA 0.3827 False NA ,,, NA NA NA 2504 0.3926 NA NA NA NA 0 T , 2028,1652 560,908,372 159 158 158 , -0.6 0 7 dbSNP_100 158 2795,5399 484,1827,1786 no intron,intron TARP NM_001003799.1,NM_001003806.1 , 1044,2735,2158 AA,AT,TT 34.1103,44.8913,40.6182 , , 38301741 4823,7051 1840 4097 5937 M14996 7p14 2012-02-07 ENSG00000211689 ENSG00000211689 6966 T cell receptors / TRG locus 12275 other T cell receptor gene T-cell receptor, gamma, constant region C1 186970 TCRGC1 NA 2879283 Standard NG_001336 NG_001336 NA Approved C1 P0CF51 OTTHUMG00000155219 ENST00000443402.2: chr7.hg19:g.38301741T>A NA hg19 0.02 14.79388 TGAxCAG COVERED NOVEL TRGC1-001 KNOWN mRNA_start_NF|cds_start_NF|basic|appris_principal TR_C_gene NA TR_C_gene OTTHUMT00000338825.3 1 14.743718 KEEP 0 0 0 49 1550 TT 1 1 0 - 10 60 367 0 0 21.699282 345 60 12664 507 ENST00000443402.2 0.028169 1 TRGC1 6966 __UNKNOWN__ __UNKNOWN__ 7 38305142 38305142 __UNKNOWN__ RNA SNP G G C rs113809137 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:38305142G>C ENST00000443402.2 - 0 137 NM_001003799.1|NM_001003806.1 NP_001003799.1|NP_001003806.1 P0CF51 TRGC1_HUMAN T cell receptor gamma constant 1 NA NA integral component of membrane (GO:0016021) NA TTCTTTTCTTGCCAATGTATC 0.398 NA g||| 1036 0.206869 0.1596 0.1686 5008 , , NA 17640 0.1944 NA 0.2515 False NA ,,, NA NA NA 2504 0.2648 NA NA NA NA 0 G , 601,3039 80,441,1299 167 173 171 126, 3.3 0.9 7 dbSNP_132 171 1903,6245 234,1435,2405 no coding-synonymous,utr-5 TARP NM_001003799.1,NM_001003806.1 , 314,1876,3704 CC,CG,GG 23.3554,16.511,21.2419 , 42/59, 38305142 2504,9284 1820 4074 5894 M14996 7p14 2012-02-07 ENSG00000211689 ENSG00000211689 6966 T cell receptors / TRG locus 12275 other T cell receptor gene T-cell receptor, gamma, constant region C1 186970 TCRGC1 NA 2879283 Standard NG_001336 NG_001336 NA Approved C1 P0CF51 OTTHUMG00000155219 ENST00000443402.2: chr7.hg19:g.38305142G>C NA hg19 0.02 19.532082 CTTxCCA COVERED NOVEL TRGC1-001 KNOWN mRNA_start_NF|cds_start_NF|basic|appris_principal TR_C_gene NA TR_C_gene OTTHUMT00000338825.3 1 17.150145 KEEP 5 0 0 57 2005 GG 1 1 0 - 22 60 796 0 0 50.99415 475 60 17837 623 ENST00000443402.2 0.044266 1 TRGJ1 6968 __UNKNOWN__ __UNKNOWN__ 7 38309102 38309102 __UNKNOWN__ RNA SNP A A C rs2075010 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:38309102A>C ENST00000390337.1 - 0 39 T cell receptor gamma joining 1 NA NA NA CTGTGACAACAAGTGTTGTTC 0.328 NA NA NA NA NA NA NA NA NA NA NA 0 42 40 41 NA NA 7 NA 38309102 1774 4043 5817 M12960 7p14 2012-02-07 ENSG00000211690 ENSG00000211690 6968 T cell receptors / TRG locus 12277 other T cell receptor gene T-cell receptor, gamma, joining segment J1 TCRGJ1 NA 3003579 Standard NG_001336 NG_001336 NA Approved J1 OTTHUMG00000155214 ENST00000390337.1: chr7.hg19:g.38309102A>C NA hg19 0.02 11.501454 AACxAGT COVERED NOVEL TRGJ1-001 KNOWN mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal TR_J_gene NA TR_J_gene OTTHUMT00000338820.1 23 16.85136 KEEP 109 0 0 56 1779 AA 0.999997 0.999997 0 - 8 60 311 0 0 19.474878 247 60 9155 504 ENST00000390337.1 0.031373 1 TRGV11 6985 __UNKNOWN__ __UNKNOWN__ 7 38331271 38331271 __UNKNOWN__ RNA SNP C C A rs1860520 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:38331271C>A ENST00000390340.2 - 0 408 T cell receptor gamma variable 11 (non-functional) NA NA NA TCTCTAAGAACTTTATTTTCA 0.418 NA A||| 1179 0.235423 0.6815 0.062 5008 , , NA 20626 0.1448 NA 0.007 False NA ,,, NA NA NA 2504 0.0838 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA Y11227 7p14 2012-02-07 2008-09-12 ENSG00000211693 ENSG00000211693 6985 T cell receptors / TRG locus 12286 other T cell receptor gene T-cell receptor, gamma, variable region V11 T cell receptor gamma variable 11 TCRGV11 NA Standard NG_001336 NG_001336 NA Approved V4P OTTHUMG00000155221 ENST00000390340.2: chr7.hg19:g.38331271C>A NA hg19 0.02 11.125544 GAAxTTT COVERED NOVEL TRGV11-001 KNOWN mRNA_start_NF|mRNA_end_NF|cds_end_NF|basic|appris_principal TR_V_gene NA TR_V_gene OTTHUMT00000338827.2 1 8.728511 KEEP 0 0 0 29 1054 CC 0.999997 0.999997 0 - 10 60 364 0 0 22.192812 287 60 10796 390 ENST00000390340.2 0.03367 1 TRGV11 6985 __UNKNOWN__ __UNKNOWN__ 7 38331504 38331504 __UNKNOWN__ RNA SNP C C T rs1860521 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:38331504C>T ENST00000390340.2 - 0 175 T cell receptor gamma variable 11 (non-functional) NA NA NA ATAGATATTTCAGGTTGTTCC 0.408 NA C||| 1204 0.240415 0.6974 0.0634 5008 , , NA 20470 0.1448 NA 0.007 False NA ,,, NA NA NA 2504 0.0869 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA Y11227 7p14 2012-02-07 2008-09-12 ENSG00000211693 ENSG00000211693 6985 T cell receptors / TRG locus 12286 other T cell receptor gene T-cell receptor, gamma, variable region V11 T cell receptor gamma variable 11 TCRGV11 NA Standard NG_001336 NG_001336 NA Approved V4P OTTHUMG00000155221 ENST00000390340.2: chr7.hg19:g.38331504C>T NA hg19 0.02 6.477909 TTTxAGG COVERED NOVEL TRGV11-001 KNOWN mRNA_start_NF|mRNA_end_NF|cds_end_NF|basic|appris_principal TR_V_gene NA TR_V_gene OTTHUMT00000338827.2 0 5.417253 KEEP 0 0 0 18 615 CC 0.999859 0.999859 0 - 6 60 217 0 0 13.490433 152 60 5812 198 ENST00000390340.2 0.037975 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 38398019 38398019 __UNKNOWN__ IGR SNP G G A rs2471878 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:38398019G>A NA NA TRGV4 (3901 upstream) : TRGV3 (93 downstream) NA NA NA AAATTTGGTGGCAGGAAATGA 0.507 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.38398019G>A NA hg19 0.02 4.007488 GTGxCAG COVERED NOVEL 0 2 3.611724 KEEP 3 0 0 12 421 GG 0.993634 0.993633 0 5 40 172 0 0 10.586229 114 60 4040 142 0.042017 0.999999 AMPH 273 __UNKNOWN__ __UNKNOWN__ 7 38433726 38433726 __UNKNOWN__ Missense_Mutation SNP T T G rs35024632 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:38433726T>G ENST00000356264.2 - 18 1702 c.1487A>C c.(1486-1488)aAg>aCg p.K496T AMPH_ENST00000428293.2_Missense_Mutation_p.K454T|AMPH_ENST00000325590.5_Missense_Mutation_p.K454T|AMPH_ENST00000471913.1_5'UTR NM_001635.3 NP_001626.1 P49418 AMPH_HUMAN amphiphysin 496 NA K -> T (in dbSNP:rs35024632). {ECO:0000269|PubMed:15489334}. endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488) actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021) phospholipid binding (GO:0005543) breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2) 62 GACAGTGGCCTTCTCCGCCTC 0.577 NA T||| 351 0.0700879 0.0008 0.0519 5008 , , NA 18146 0.1825 NA 0.0726 False NA ,,, NA NA NA 2504 0.0583 NA NA NA NA 0 T THR/LYS,THR/LYS 50,4356 52.9+/-88.7 1,48,2154 120 110 113 1487,1361 2.1 0.9 7 dbSNP_126 113 634,7966 164.2+/-216.6 34,566,3700 yes missense,missense AMPH NM_001635.3,NM_139316.2 78,78 35,614,5854 GG,GT,TT 7.3721,1.1348,5.2591 benign,benign 496/696,454/654 38433726 684,12322 2203 4300 6503 SO:0001583 missense CCDS5456.1, CCDS47574.1 7p14-p13 2007-06-19 2007-06-19 ENSG00000078053 ENSG00000078053 273 471 protein-coding gene gene with protein product 600418 amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen), amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen) NA 8245793 Standard NM_001635 NM_139316 NA Approved uc003tgu.3 P49418 OTTHUMG00000023725 ENST00000356264.2:c.1487A>C chr7.hg19:g.38433726T>G ENSP00000348602:p.Lys496Thr NA A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0 hg19 CCDS5456.1 0.02 8.150223 GCCxTCT COVERED 184|184 0.08424908424908426|0.08424908424908426 0|0 0.0|0.0 19|19 0.052486187845303865|0.052486187845303865 111|111 0.19405594405594406|0.19405594405594406 54|54 0.0712401055408971|0.0712401055408971 T|T 9.076|9.076 0.998033|0.998033 0.19043|0.19043 0.011348|0.011348 0.073721|0.073721 ENSG00000078053|ENSG00000078053 ENST00000441628|ENST00000325590;ENST00000356264;ENST00000428293;ENST00000353242 T|T;T;T 0.34667|0.61040 1.35|0.17;0.18;0.14 5.93|5.93 2.1|2.1 0.27182|0.27182 .|. .|0.544311 .|0.19498 .|N .|0.112820 T|T 0.00109|0.00109 0.0003|0.0003 L|L 0.27053|0.27053 0.805|0.805 0.80722|0.80722 P|P 0.0|0.0 .|D;B;B;P .|0.67145 .|0.996;0.274;0.323;0.925 .|P;B;B;P .|0.59948 .|0.866;0.072;0.079;0.52 T|T 0.05257|0.05257 -1.0896|-1.0896 6|9 0.13853|0.27082 T|T 0.58|0.32 -27.4888|-27.4888 3.6841|3.6841 0.08321|0.08321 0.0:0.199:0.1936:0.6074|0.0:0.199:0.1936:0.6074 rs35024632|rs35024632 .|542;454;496;384 .|Q8NFL6;P49418-2;P49418;Q8NFL4 .|.;.;AMPH_HUMAN;. D|T 378|454;496;454;398 ENSP00000415085:E378D|ENSP00000317441:K454T;ENSP00000348602:K496T;ENSP00000390734:K454T ENSP00000415085:E378D|ENSP00000317441:K454T E|K -|- 3|2 2|0 AMPH|AMPH 38400251|38400251 0.378000|0.378000 0.25114|0.25114 0.894000|0.894000 0.35097|0.35097 0.444000|0.444000 0.32077|0.32077 1.415000|1.415000 0.34748|0.34748 1.076000|1.076000 0.40961|0.40961 0.460000|0.460000 0.39030|0.39030 GAA|AAG NOVEL AMPH-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000226953.2 2 5.653597 KEEP 0 1 38 32 1019 TT 0.999998 0.999998 0 - 7 60 253 0 0 15.219207 210 60 7581 315 ENST00000356264.2 0.032258 1 FAM183B 340286 __UNKNOWN__ __UNKNOWN__ 7 38725883 38725883 __UNKNOWN__ Intron SNP C C A rs12701651 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:38725883C>A ENST00000409072.3 - 1 728 Q6ZVS7 F183B_HUMAN family with sequence similarity 183, member B NA NA endometrium(1)|lung(7) 8 TCCTTGAGAACAGATTCGATG 0.493 NA C||| 1803 0.360024 0.416 0.1167 5008 , , NA 19833 0.5437 NA 0.1918 False NA ,,, NA NA NA 2504 0.4407 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK124132, BC045803 7p14.1 2008-08-11 ENSG00000164556 ENSG00000164556 340286 34511 protein-coding gene gene with protein product NA Standard NM_001105282 NR_028347 NA Approved LOC340286 uc011kbd.2 Q6ZVS7 OTTHUMG00000153653 ENST00000409072.3:c.206+26G>T chr7.hg19:g.38725883C>A NA A4D1Y1 hg19 0.02 16.058911 GAAxAGA COVERED NOVEL FAM183B-001 NOVEL basic|appris_principal protein_coding NA protein_coding OTTHUMT00000331972.1 2 20.150597 KEEP 0 0 0 67 2404 CC 1 1 0 - 13 60 468 0 0 27.895099 403 60 15320 578 ENST00000409072.3 0.03125 1 VPS41 27072 __UNKNOWN__ __UNKNOWN__ 7 38763577 38763577 __UNKNOWN__ 3'UTR SNP A A T rs17767770 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:38763577A>T ENST00000310301.4 - 0 4888 NM_014396.3 NP_055211.2 P49754 VPS41_HUMAN vacuolar protein sorting 41 homolog (S. cerevisiae) NA NA Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192) cytosol (GO:0005829)|early endosome (GO:0005769)|Golgi-associated vesicle (GO:0005798)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630) zinc ion binding (GO:0008270) NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 44 AAAAGAAAAGACATTCTAAGG 0.284 NA T||| 1955 0.390375 0.4811 0.1585 5008 , , NA 15077 0.4306 NA 0.2018 False NA ,,, NA NA NA 2504 0.5849 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U87309 CCDS5457.1, CCDS5458.2 7p14.1-p13 2009-05-08 2006-12-19 ENSG00000006715 ENSG00000006715 27072 12713 protein-coding gene gene with protein product 605485 vacuolar protein sorting 41 (yeast homolog), vacuolar protein sorting 41 (yeast) NA 9159129 Standard NM_080631 NA Approved HVSP41 uc003tgy.3 P49754 OTTHUMG00000023629 ENST00000310301.4:c.*2269T>A chr7.hg19:g.38763577A>T NA E9PF36|Q86TP8|Q99851|Q99852 hg19 CCDS5457.1 0.02 10.940819 AAGxCAT COVERED NOVEL VPS41-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000226986.3 0 9.930202 KEEP 0 0 0 33 1084 AA 0.999998 0.999998 0 - 9 60 337 0 0 20.983535 253 60 9022 356 ENST00000310301.4 0.034351 1 VPS41 27072 __UNKNOWN__ __UNKNOWN__ 7 38764855 38764855 __UNKNOWN__ 3'UTR SNP G G A rs17767818 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:38764855G>A ENST00000310301.4 - 0 3610 NM_014396.3 NP_055211.2 P49754 VPS41_HUMAN vacuolar protein sorting 41 homolog (S. cerevisiae) NA NA Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192) cytosol (GO:0005829)|early endosome (GO:0005769)|Golgi-associated vesicle (GO:0005798)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630) zinc ion binding (GO:0008270) NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 44 GATGAAGCCAGTAACTGTAAG 0.423 NA A||| 1527 0.304912 0.3737 0.0951 5008 , , NA 23092 0.4266 NA 0.1173 False NA ,,, NA NA NA 2504 0.4284 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U87309 CCDS5457.1, CCDS5458.2 7p14.1-p13 2009-05-08 2006-12-19 ENSG00000006715 ENSG00000006715 27072 12713 protein-coding gene gene with protein product 605485 vacuolar protein sorting 41 (yeast homolog), vacuolar protein sorting 41 (yeast) NA 9159129 Standard NM_080631 NA Approved HVSP41 uc003tgy.3 P49754 OTTHUMG00000023629 ENST00000310301.4:c.*991C>T chr7.hg19:g.38764855G>A NA E9PF36|Q86TP8|Q99851|Q99852 hg19 CCDS5457.1 0.02 4.320791 CCAxTAA COVERED NOVEL VPS41-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000226986.3 0 4.514881 KEEP 0 0 0 15 544 GG 0.99649 0.99649 0 - 5 60 188 0 0 11.774692 138 60 5187 175 ENST00000310301.4 0.034965 1 VPS41 27072 __UNKNOWN__ __UNKNOWN__ 7 38816441 38816441 __UNKNOWN__ Intron SNP A A G rs1468347 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:38816441A>G ENST00000310301.4 - 11 839 VPS41_ENST00000395969.2_Intron|VPS41_ENST00000466017.1_Intron NM_014396.3 NP_055211.2 P49754 VPS41_HUMAN vacuolar protein sorting 41 homolog (S. cerevisiae) NA NA Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192) cytosol (GO:0005829)|early endosome (GO:0005769)|Golgi-associated vesicle (GO:0005798)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630) zinc ion binding (GO:0008270) NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 44 CATCTGGAGGAACACAATGAC 0.443 NA G||| 3448 0.688498 0.6172 0.7205 5008 , , NA 19681 0.8621 NA 0.5378 False NA ,,, NA NA NA 2504 0.7382 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U87309 CCDS5457.1, CCDS5458.2 7p14.1-p13 2009-05-08 2006-12-19 ENSG00000006715 ENSG00000006715 27072 12713 protein-coding gene gene with protein product 605485 vacuolar protein sorting 41 (yeast homolog), vacuolar protein sorting 41 (yeast) NA 9159129 Standard NM_080631 NA Approved HVSP41 uc003tgy.3 P49754 OTTHUMG00000023629 ENST00000310301.4:c.785-65T>C chr7.hg19:g.38816441A>G NA E9PF36|Q86TP8|Q99851|Q99852 hg19 CCDS5457.1 0.02 6.748649 AGGxACA COVERED NOVEL VPS41-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000226986.3 1 6.317065 KEEP 0 0 0 21 651 AA 0.999869 0.999869 0 - 12 60 435 0 0 29.966907 172 60 6134 230 ENST00000310301.4 0.065217 1 VPS41 27072 __UNKNOWN__ __UNKNOWN__ 7 38816487 38816487 __UNKNOWN__ Intron SNP G G A rs4236355 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:38816487G>A ENST00000310301.4 - 11 839 VPS41_ENST00000395969.2_Intron|VPS41_ENST00000466017.1_Intron NM_014396.3 NP_055211.2 P49754 VPS41_HUMAN vacuolar protein sorting 41 homolog (S. cerevisiae) NA NA Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192) cytosol (GO:0005829)|early endosome (GO:0005769)|Golgi-associated vesicle (GO:0005798)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630) zinc ion binding (GO:0008270) NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 44 AAAAGCTAACGTAAAGGGGAC 0.443 NA A||| 3757 0.7502 0.8533 0.7363 5008 , , NA 20179 0.8621 NA 0.5308 False NA ,,, NA NA NA 2504 0.7311 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U87309 CCDS5457.1, CCDS5458.2 7p14.1-p13 2009-05-08 2006-12-19 ENSG00000006715 ENSG00000006715 27072 12713 protein-coding gene gene with protein product 605485 vacuolar protein sorting 41 (yeast homolog), vacuolar protein sorting 41 (yeast) NA 9159129 Standard NM_080631 NA Approved HVSP41 uc003tgy.3 P49754 OTTHUMG00000023629 ENST00000310301.4:c.785-111C>T chr7.hg19:g.38816487G>A NA E9PF36|Q86TP8|Q99851|Q99852 hg19 CCDS5457.1 0.02 3.967596 AACxTAA COVERED NOVEL VPS41-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000226986.3 3 2.708905 KEEP 0 0 0 9 324 GG 0.99254 0.992537 0 - 7 60 239 0 0 15.792449 108 60 3967 125 ENST00000310301.4 0.06087 0.999997 VPS41 27072 __UNKNOWN__ __UNKNOWN__ 7 38857364 38857364 __UNKNOWN__ Intron SNP G G A rs2072248 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:38857364G>A ENST00000310301.4 - 7 505 VPS41_ENST00000395969.2_Intron NM_014396.3 NP_055211.2 P49754 VPS41_HUMAN vacuolar protein sorting 41 homolog (S. cerevisiae) NA NA Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192) cytosol (GO:0005829)|early endosome (GO:0005769)|Golgi-associated vesicle (GO:0005798)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630) zinc ion binding (GO:0008270) NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 44 TACAGAGTAAGCACACAACAC 0.398 NA A||| 3564 0.711661 0.6989 0.7219 5008 , , NA 20790 0.871 NA 0.5318 False NA ,,, NA NA NA 2504 0.7423 NA NA NA NA 0 A , 973,411 337,299,56 192 179 183 , -0.6 0 7 dbSNP_96 183 1667,1515 448,771,372 no intron,intron VPS41 NM_014396.3,NM_080631.3 , 785,1070,428 AA,AG,GG 47.6116,29.6965,42.1813 , , 38857364 2640,1926 692 1591 2283 SO:0001627 intron_variant U87309 CCDS5457.1, CCDS5458.2 7p14.1-p13 2009-05-08 2006-12-19 ENSG00000006715 ENSG00000006715 27072 12713 protein-coding gene gene with protein product 605485 vacuolar protein sorting 41 (yeast homolog), vacuolar protein sorting 41 (yeast) NA 9159129 Standard NM_080631 NA Approved HVSP41 uc003tgy.3 P49754 OTTHUMG00000023629 ENST00000310301.4:c.450+52C>T chr7.hg19:g.38857364G>A NA E9PF36|Q86TP8|Q99851|Q99852 hg19 CCDS5457.1 0.02 7.531028 TAAxCAC COVERED NOVEL VPS41-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000226986.3 2 14.74869 KEEP 0 0 0 49 1794 GG 1 1 0 - 13 60 451 0 0 29.350622 228 60 8588 349 ENST00000310301.4 0.053942 1 VPS41 27072 __UNKNOWN__ __UNKNOWN__ 7 38860933 38860933 __UNKNOWN__ Intron SNP A A G rs56002981 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:38860933A>G ENST00000310301.4 - 6 376 VPS41_ENST00000395969.2_Intron NM_014396.3 NP_055211.2 P49754 VPS41_HUMAN vacuolar protein sorting 41 homolog (S. cerevisiae) NA NA Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192) cytosol (GO:0005829)|early endosome (GO:0005769)|Golgi-associated vesicle (GO:0005798)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630) zinc ion binding (GO:0008270) NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 44 GTCAGTATGAACACATACTAT 0.368 NA A||| 1689 0.33726 0.2927 0.2983 5008 , , NA 17699 0.4385 NA 0.1809 False NA ,,, NA NA NA 2504 0.4816 NA NA NA NA 0 A , 397,987 53,291,348 83 66 71 , -1.1 0 7 dbSNP_129 71 572,2610 50,472,1069 no intron,intron VPS41 NM_014396.3,NM_080631.3 , 103,763,1417 GG,GA,AA 17.9761,28.685,21.2221 , , 38860933 969,3597 692 1591 2283 SO:0001627 intron_variant U87309 CCDS5457.1, CCDS5458.2 7p14.1-p13 2009-05-08 2006-12-19 ENSG00000006715 ENSG00000006715 27072 12713 protein-coding gene gene with protein product 605485 vacuolar protein sorting 41 (yeast homolog), vacuolar protein sorting 41 (yeast) NA 9159129 Standard NM_080631 NA Approved HVSP41 uc003tgy.3 P49754 OTTHUMG00000023629 ENST00000310301.4:c.322-68T>C chr7.hg19:g.38860933A>G NA E9PF36|Q86TP8|Q99851|Q99852 hg19 CCDS5457.1 0.02 6.91322 TGAxCAC COVERED NOVEL VPS41-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000226986.3 2 12.035563 KEEP 0 0 0 40 1255 AA 1 1 0 - 8 60 307 0 0 20.153113 180 60 6343 261 ENST00000310301.4 0.042553 1 RALA 5898 __UNKNOWN__ __UNKNOWN__ 7 39738960 39738960 __UNKNOWN__ Intron SNP T T C rs2107709 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:39738960T>C ENST00000005257.2 + 4 878 RALA_ENST00000468201.1_Intron NM_005402.3 NP_005393.2 P11233 RALA_HUMAN v-ral simian leukemia viral oncogene homolog A (ras related) NA NA actin cytoskeleton reorganization (GO:0031532)|chemotaxis (GO:0006935)|cytokinesis (GO:0000910)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|membrane raft localization (GO:0051665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of filopodium assembly (GO:0051491)|Ras protein signal transduction (GO:0007265)|regulation of exocytosis (GO:0017157)|signal transduction (GO:0007165)|viral process (GO:0016032) cell surface (GO:0009986)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886) Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|GTP binding (GO:0005525)|GTPase activity (GO:0003924) NS(1)|central_nervous_system(1)|large_intestine(2)|lung(9)|skin(3) 16 aggatggtcttgatctcctga 0.547 NA -||| 3243 0.647564 0.8979 0.6772 5008 , , NA 13170 0.3958 NA 0.6123 False NA ,,, NA NA NA 2504 0.5838 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS5460.1 7p22-p15 2014-05-09 ENSG00000006451 ENSG00000006451 5898 9839 protein-coding gene gene with protein product RAS-like protein A, Ras-related protein Ral-A, Ras family small GTP binding protein RALA, ras related GTP binding protein A 179550 RAL NA 3292391 Standard NM_005402 NM_005402 NA Approved uc003thd.3 P11233 OTTHUMG00000128775 ENST00000005257.2:c.498+2502T>C chr7.hg19:g.39738960T>C NA A4D1W3 hg19 CCDS5460.1 0.02 -0.035092 TCTxGAT UNCOVERED NOVEL RALA-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250696.2 1 2.707172 KEEP 5 0 0 9 259 TT 0 0 0 + 2 60 73 1 0 7.050077 2 40 70 18 ENST00000005257.2 0.5 0.019982 CDK13 8621 __UNKNOWN__ __UNKNOWN__ 7 39989874 39989874 __UNKNOWN__ 5'UTR SNP C C G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:39989874C>G ENST00000181839.4 + 0 239 NM_003718.4|NM_031267.3 NP_003709.3|NP_112557.2 Q14004 CDK13_HUMAN cyclin-dependent kinase 13 NA NA alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032) cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607) ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353) cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1) 49 TTGCGCTGCCCGAGCCGAGAG 0.692 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant M80629 CCDS5461.1, CCDS5462.1 7p14.1 2011-11-08 2009-12-16 2009-12-16 ENSG00000065883 ENSG00000065883 8621 Cyclin-dependent kinases 1733 protein-coding gene gene with protein product cholinesterase-related cell division controller 603309 cell division cycle 2-like 5 (cholinesterase-related cell division controller) CDC2L5 NA 1731328, 19884882 Standard NM_003718 NM_003718 NA Approved CHED, CDC2L, KIAA1791 uc003thh.4 Q14004 OTTHUMG00000023726 ENST00000181839.4:c.-367C>G chr7.hg19:g.39989874C>G NA Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4 hg19 CCDS5461.1 0.02 11.307396 GCCxGAG COVERED NOVEL CDK13-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000250726.2 0 76.641673 KEEP 0 0 0 255 8531 CC 1 1 0 + 15 60 479 0 0 30.331453 251 60 8670 671 ENST00000181839.4 0.056391 1 CDK13 8621 __UNKNOWN__ __UNKNOWN__ 7 40127767 40127767 __UNKNOWN__ Silent SNP G G A rs2302341 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:40127767G>A ENST00000181839.4 + 12 3677 c.3072G>A c.(3070-3072)aaG>aaA p.K1024K CDK13_ENST00000340829.5_Silent_p.K1024K NM_003718.4|NM_031267.3 NP_003709.3|NP_112557.2 Q14004 CDK13_HUMAN cyclin-dependent kinase 13 1024 NA alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032) cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607) ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353) p.K1024K(1) cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1) 49 GGAGTAAAAAGCGAAGAAGAC 0.393 NA G||| 835 0.166733 0.0469 0.1153 5008 , , NA 17771 0.3135 NA 0.0855 False NA ,,, NA NA NA 2504 0.2975 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) G , 228,4178 135.3+/-171.4 5,218,1980 82 82 82 3072,3072 1.6 1 7 dbSNP_100 82 596,8004 157.3+/-211.0 30,536,3734 no coding-synonymous,coding-synonymous CDK13 NM_003718.4,NM_031267.3 , 35,754,5714 AA,AG,GG 6.9302,5.1748,6.3355 , 1024/1513,1024/1453 40127767 824,12182 2203 4300 6503 SO:0001819 synonymous_variant M80629 CCDS5461.1, CCDS5462.1 7p14.1 2011-11-08 2009-12-16 2009-12-16 ENSG00000065883 ENSG00000065883 8621 Cyclin-dependent kinases 1733 protein-coding gene gene with protein product cholinesterase-related cell division controller 603309 cell division cycle 2-like 5 (cholinesterase-related cell division controller) CDC2L5 NA 1731328, 19884882 Standard NM_003718 NM_003718 NA Approved CHED, CDC2L, KIAA1791 uc003thh.4 Q14004 OTTHUMG00000023726 ENST00000181839.4:c.3072G>A chr7.hg19:g.40127767G>A NA Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4 hg19 CCDS5461.1 0.02 7.59546 AAAxCGA COVERED NOVEL CDK13-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000250726.2 2 11.37186 KEEP 0 1 32 49 1753 GG 1 1 0 + 7 60 251 1 0 14.631141 239 70 9071 363 ENST00000181839.4 0.028455 1 C7orf10 0 __UNKNOWN__ __UNKNOWN__ 7 40228078 40228078 __UNKNOWN__ Intron SNP A A T rs78060149 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:40228078A>T ENST00000335693.4 + 4 270 C7orf10_ENST00000540834.1_Intron|C7orf10_ENST00000309930.5_Intron|C7orf10_ENST00000401647.2_Intron NM_001193313.1 NP_001180242.1 Q9HAC7 SUCHY_HUMAN NA NA metabolic process (GO:0008152) mitochondrion (GO:0005739) succinate-hydroxymethylglutarate CoA-transferase activity (GO:0047369) endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2) 18 TTAATAGCTCATGTTATTATT 0.393 NA A||| 1028 0.205272 0.0091 0.1556 5008 , , NA 12889 0.4593 NA 0.1183 False NA ,,, NA NA NA 2504 0.3333 NA NA NA NA 0 A ,,, 98,3510 3,92,1709 41 40 40 ,,, 1.9 0 7 dbSNP_132 40 900,7248 55,790,3229 no intron,intron,intron,intron C7orf10 NM_001193311.1,NM_001193312.1,NM_001193313.1,NM_024728.2 ,,, 58,882,4938 TT,TA,AA 11.0457,2.7162,8.4893 ,,, ,,, 40228078 998,10758 1804 4074 5878 SO:0001627 intron_variant NA NA NA NA ENST00000335693.4:c.248-16A>T chr7.hg19:g.40228078A>T NA A4D1W5|B4DR73|Q4KMW4|Q4KMW8|Q4KMZ0|Q8TE00|Q8TEY1 hg19 CCDS55105.1 0.02 -0.438036 CTCxTGT COVERED NOVEL C7orf10-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000338388.1 0 3.309355 KEEP 0 0 0 11 329 AA 0.993072 0.953209 0 + 3 60 107 0 0 7.20657 47 60 1644 82 ENST00000335693.4 0.06 0.959859 GLI3 2737 __UNKNOWN__ __UNKNOWN__ 7 42000924 42000924 __UNKNOWN__ 3'UTR SNP C C T rs3735361 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:42000924C>T ENST00000395925.3 - 0 7831 NM_000168.5 NP_000159.3 P10071 GLI3_HUMAN GLI family zinc finger 3 NA NA anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060) cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053) beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700) NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 112 CAAAACAACACATGAAACCAG 0.453 NA Pallister-Hall syndrome;Greig Cephalopolysyndactyly C||| 1559 0.311302 0.0461 0.3545 5008 , , NA 16428 0.5645 NA 0.334 False NA ,,, NA NA NA 2504 0.3548 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Familial Cancer Database ; CCDS5465.1 7p13 2013-01-25 2009-03-05 ENSG00000106571 ENSG00000106571 2737 Zinc fingers, C2H2-type 4319 protein-coding gene gene with protein product zinc finger protein GLI3, oncogene GLI3, DNA-binding protein 165240 Greig cephalopolysyndactyly syndrome, GLI-Kruppel family member GLI3, glioma-associated oncogene family zinc finger 3 GCPS, PHS NA 2118997 Standard NM_000168 NM_000168 NA Approved PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV uc011kbh.2 P10071 OTTHUMG00000023630 ENST00000395925.3:c.*3004G>A chr7.hg19:g.42000924C>T NA A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39 hg19 CCDS5465.1 0.02 8.011783 ACAxATG COVERED NOVEL GLI3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250806.3 2 8.166194 KEEP 0 4 125 71 2534 CC 1 1 0 - 8 60 291 0 0 17.633468 236 60 8982 406 ENST00000395925.3 0.032787 1 DBNL 28988 __UNKNOWN__ __UNKNOWN__ 7 44084292 44084292 __UNKNOWN__ 5'UTR SNP C C G rs4430012 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:44084292C>G ENST00000448521.1 + 0 54 DBNL_ENST00000440166.1_5'UTR|DBNL_ENST00000456905.1_5'UTR NM_001014436.2 NP_001014436.1 Q9UJU6 DBNL_HUMAN drebrin-like NA NA activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|endocytosis (GO:0006897)|immune system process (GO:0002376)|neuron projection morphogenesis (GO:0048812)|podosome assembly (GO:0071800)|Rac protein signal transduction (GO:0016601)|synapse assembly (GO:0007416) cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|podosome (GO:0002102)|postsynaptic density (GO:0014069)|ruffle (GO:0001726) actin binding (GO:0003779)|actin filament binding (GO:0051015)|enzyme activator activity (GO:0008047) breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1) 12 cggcccggcccggcccggAAG 0.731 NA -||| 2247 0.448682 0.2436 0.4481 5008 , , NA 11249 0.6905 NA 0.3698 False NA ,,, NA NA NA 2504 0.5583 NA NA NA NSCLC(68;573 1327 18604 34760 37992) NA 0 4 6 6 NA NA 7 NA 44084292 1447 2599 4046 SO:0001623 5_prime_UTR_variant AF151364 CCDS34622.1, CCDS34623.1, CCDS47579.1, CCDS64633.1, CCDS64634.1 7p13 2004-07-22 ENSG00000136279 ENSG00000136279 28988 2696 protein-coding gene gene with protein product 610106 NA 10087302 Standard NM_014063 NM_014063 NA Approved SH3P7, HIP-55 uc003tjq.4 Q9UJU6 OTTHUMG00000155350 ENST00000448521.1:c.-45C>G chr7.hg19:g.44084292C>G NA A4D2I9|B4DEM2|C9J7P1|P84070|Q6IAI8|Q96F30|Q96K74|Q9HBN8|Q9NR72 hg19 CCDS34623.1 0.02 4.780445 GCCxGGC COVERED NOVEL DBNL-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000339572.2 0 17.756032 KEEP 0 0 0 59 1992 CC 1 0.999973 0 + 6 60 223 0 0 15.255978 96 60 3280 212 ENST00000448521.1 0.058824 0.999973 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 44108863 44108863 __UNKNOWN__ IGR SNP A A T rs59505066 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:44108863A>T NA NA AC017116.11 (3185 upstream) : POLM (2982 downstream) NA NA NA cttctttaagagttatgtgat 0.378 NA A||| 2019 0.403155 0.1021 0.4265 5008 , , NA 18361 0.6905 NA 0.3628 False NA ,,, NA NA NA 2504 0.5389 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.44108863A>T NA hg19 0.02 4.065054 AAGxGTT COVERED NOVEL 0 0 11.131863 KEEP 0 0 0 37 1149 AA 1 1 0 10 60 357 0 0 24.895725 128 60 4726 200 0.072464 1 GCK 2645 __UNKNOWN__ __UNKNOWN__ 7 44184225 44184225 __UNKNOWN__ 3'UTR SNP G G A rs141645300 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:44184225G>A ENST00000403799.3 - 0 2377 GCK_ENST00000345378.2_3'UTR|GCK_ENST00000395796.3_3'UTR NM_000162.3 NP_000153.1 P35557 HXK4_HUMAN glucokinase (hexokinase 4) NA NA calcium ion import (GO:0070509)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|cellular response to glucose starvation (GO:0042149)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|NADP metabolic process (GO:0006739)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of gluconeogenesis (GO:0045721)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphorylation (GO:0042327)|regulation of glucose transport (GO:0010827)|regulation of glycolytic process (GO:0006110)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transport (GO:0043266)|second-messenger-mediated signaling (GO:0019932)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085) cell cortex (GO:0005938)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|secretory granule (GO:0030141) ADP binding (GO:0043531)|ATP binding (GO:0005524)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|magnesium ion binding (GO:0000287) central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 37 TGGGCCTCTTGAGCCTCAGGC 0.592 NA G||| 10 0.00199681 0.0 0.0 5008 , , NA 17730 0.0099 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF041014 CCDS5479.1, CCDS5480.1, CCDS5481.1 7p15.3-p15.1 2008-02-07 2008-02-07 ENSG00000106633 ENSG00000106633 2645 2.7.1.2, 2.7.1.1 4195 protein-coding gene gene with protein product 138079 maturity onset diabetes of the young 2 MODY2 NA 1740341, 1502186 Standard NM_033507 NA Approved HK4 uc003tkk.1 P35557 OTTHUMG00000022903 ENST00000403799.3:c.*510C>T chr7.hg19:g.44184225G>A NA A4D2J2|A4D2J3|Q05810 hg19 CCDS5479.1 0.02 7.832632 CTTxAGC COVERED NOVEL GCK-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251069.2 1 10.834217 KEEP 0 0 0 36 1253 GG 0.999999 0.999999 0 - 7 60 251 0 0 14.989172 212 60 8029 292 ENST00000403799.3 0.031963 1 YKT6 10652 __UNKNOWN__ __UNKNOWN__ 7 44252018 44252018 __UNKNOWN__ 3'UTR SNP C C G rs12670584 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:44252018C>G ENST00000496112.1 + 0 800 YKT6_ENST00000447123.1_3'UTR|YKT6_ENST00000223369.2_3'UTR O15498 YKT6_HUMAN YKT6 v-SNARE homolog (S. cerevisiae) NA NA ER to Golgi vesicle-mediated transport (GO:0006888)|metabolic process (GO:0008152)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle docking involved in exocytosis (GO:0006904)|vesicle targeting (GO:0006903) cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|SNARE complex (GO:0031201) protein-cysteine S-palmitoyltransferase activity (GO:0019706)|SNAP receptor activity (GO:0005484) breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1) 7 GAAGTTCCTGCGAGAAATGGA 0.458 NA G||| 310 0.061901 0.0666 0.0461 5008 , , NA 16074 0.0704 NA 0.0656 False NA ,,, NA NA NA 2504 0.0542 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC007319 CCDS5482.1 7p13 2006-07-07 ENSG00000106636 ENSG00000106636 10652 16959 protein-coding gene gene with protein product R-SNARE 606209 NA 15479160, 15544955 Standard NM_006555 NM_006555 NA Approved uc003tkm.3 O15498 OTTHUMG00000129089 ENST00000496112.1:c.*137C>G chr7.hg19:g.44252018C>G NA B4DR94|Q53F01|Q6FGU9|Q6IB15 hg19 0.02 11.11571 CTGxGAG COVERED NOVEL YKT6-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000343171.1 1 16.845662 KEEP 0 0 0 56 1886 CC 1 1 0 + 8 60 302 0 0 18.153278 280 60 9672 444 ENST00000496112.1 0.027778 1 YKT6 10652 __UNKNOWN__ __UNKNOWN__ 7 44253021 44253021 __UNKNOWN__ 3'UTR SNP G G T rs11540051 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:44253021G>T ENST00000223369.2 + 0 1824 NM_006555.3 NP_006546.1 O15498 YKT6_HUMAN YKT6 v-SNARE homolog (S. cerevisiae) NA NA ER to Golgi vesicle-mediated transport (GO:0006888)|metabolic process (GO:0008152)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle docking involved in exocytosis (GO:0006904)|vesicle targeting (GO:0006903) cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|SNARE complex (GO:0031201) protein-cysteine S-palmitoyltransferase activity (GO:0019706)|SNAP receptor activity (GO:0005484) breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1) 7 CCAAGGGTTTGGTCTAAGCTG 0.597 NA G||| 227 0.0453275 0.0061 0.0447 5008 , , NA 19340 0.0704 NA 0.0636 False NA ,,, NA NA NA 2504 0.0542 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC007319 CCDS5482.1 7p13 2006-07-07 ENSG00000106636 ENSG00000106636 10652 16959 protein-coding gene gene with protein product R-SNARE 606209 NA 15479160, 15544955 Standard NM_006555 NM_006555 NA Approved uc003tkm.3 O15498 OTTHUMG00000129089 ENST00000223369.2:c.*1140G>T chr7.hg19:g.44253021G>T NA B4DR94|Q53F01|Q6FGU9|Q6IB15 hg19 CCDS5482.1 0.02 3.878539 TTTxGTC COVERED NOVEL YKT6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251125.2 2 3.611566 KEEP 0 0 0 12 409 GG 0.993634 0.993634 0 + 10 60 332 0 0 22.102272 138 60 4992 171 ENST00000223369.2 0.067568 1 YKT6 10652 __UNKNOWN__ __UNKNOWN__ 7 44253385 44253385 __UNKNOWN__ 3'UTR SNP T T C rs1045776 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:44253385T>C ENST00000223369.2 + 0 2188 NM_006555.3 NP_006546.1 O15498 YKT6_HUMAN YKT6 v-SNARE homolog (S. cerevisiae) NA NA ER to Golgi vesicle-mediated transport (GO:0006888)|metabolic process (GO:0008152)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle docking involved in exocytosis (GO:0006904)|vesicle targeting (GO:0006903) cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|SNARE complex (GO:0031201) protein-cysteine S-palmitoyltransferase activity (GO:0019706)|SNAP receptor activity (GO:0005484) breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1) 7 TTCAGAGGACTCCACCTCCTG 0.592 NA C||| 309 0.0617013 0.0658 0.0461 5008 , , NA 18330 0.0704 NA 0.0656 False NA ,,, NA NA NA 2504 0.0542 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC007319 CCDS5482.1 7p13 2006-07-07 ENSG00000106636 ENSG00000106636 10652 16959 protein-coding gene gene with protein product R-SNARE 606209 NA 15479160, 15544955 Standard NM_006555 NM_006555 NA Approved uc003tkm.3 O15498 OTTHUMG00000129089 ENST00000223369.2:c.*1504T>C chr7.hg19:g.44253385T>C NA B4DR94|Q53F01|Q6FGU9|Q6IB15 hg19 CCDS5482.1 0.02 9.738844 GACxCCA COVERED NOVEL YKT6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251125.2 2 15.043177 KEEP 0 0 0 50 1534 TT 1 1 0 + 9 60 324 0 0 19.219493 286 60 10241 397 ENST00000223369.2 0.030508 1 NPC1L1 29881 __UNKNOWN__ __UNKNOWN__ 7 44561884 44561884 __UNKNOWN__ Intron SNP C C T rs4720470 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:44561884C>T ENST00000381160.3 - 11 2693 NPC1L1_ENST00000289547.4_Intron|NPC1L1_ENST00000546276.1_Intron NM_001101648.1 NP_001095118.1 Q9UHC9 NPCL1_HUMAN NPC1-like 1 NA NA cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918) brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 57 Ezetimibe(DB00973) TCGCTATGCACACCCCTAAAG 0.522 NA C||| 612 0.122204 0.0272 0.0706 5008 , , NA 23169 0.3244 NA 0.0666 False NA ,,, NA NA NA 2504 0.136 NA NA NA NA 0 C , 132,4272 3,126,2073 29 28 28 , 0.5 0 7 dbSNP_111 28 467,8133 15,437,3848 no intron,intron NPC1L1 NM_001101648.1,NM_013389.2 , 18,563,5921 TT,TC,CC 5.4302,2.9973,4.6063 , , 44561884 599,12405 2202 4300 6502 SO:0001627 intron_variant CCDS5491.1, CCDS43575.1, CCDS75587.1 7p13 2012-11-15 2012-11-15 ENSG00000015520 ENSG00000015520 29881 7898 protein-coding gene gene with protein product 608010 NPC1 (Niemann-Pick disease, type C1, gene)-like 1 NA 10783261 Standard NM_013389 NM_013389 NA Approved uc003tlb.3 Q9UHC9 OTTHUMG00000023691 ENST00000381160.3:c.2638-43G>A chr7.hg19:g.44561884C>T NA A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8 hg19 CCDS43575.1 0.02 4.364704 GCAxACC COVERED NOVEL NPC1L1-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000339390.1 0 3.00986 KEEP 0 0 0 10 355 CC 0.992708 0.992708 0 - 7 60 246 0 0 15.922707 131 60 4842 173 ENST00000381160.3 0.050725 1 NPC1L1 29881 __UNKNOWN__ __UNKNOWN__ 7 44571460 44571460 __UNKNOWN__ Intron SNP T T G rs2301935 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:44571460T>G ENST00000381160.3 - 10 2603 NPC1L1_ENST00000289547.4_Intron|NPC1L1_ENST00000546276.1_Intron NM_001101648.1 NP_001095118.1 Q9UHC9 NPCL1_HUMAN NPC1-like 1 NA NA cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918) brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 57 Ezetimibe(DB00973) AGGGACCTGCTGCATGAGACC 0.582 NA T||| 583 0.116414 0.0008 0.0548 5008 , , NA 19948 0.4494 NA 0.003 False NA ,,, NA NA NA 2504 0.09 NA NA NA NA 0 T , 15,4367 0,15,2176 28 23 25 , -7.2 0 7 dbSNP_100 25 11,8577 0,11,4283 no intron,intron NPC1L1 NM_001101648.1,NM_013389.2 , 0,26,6459 GG,GT,TT 0.1281,0.3423,0.2005 , , 44571460 26,12944 2191 4294 6485 SO:0001627 intron_variant CCDS5491.1, CCDS43575.1, CCDS75587.1 7p13 2012-11-15 2012-11-15 ENSG00000015520 ENSG00000015520 29881 7898 protein-coding gene gene with protein product 608010 NPC1 (Niemann-Pick disease, type C1, gene)-like 1 NA 10783261 Standard NM_013389 NM_013389 NA Approved uc003tlb.3 Q9UHC9 OTTHUMG00000023691 ENST00000381160.3:c.2548-17A>C chr7.hg19:g.44571460T>G NA A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8 hg19 CCDS43575.1 0.02 4.077506 TGCxGCA COVERED NOVEL NPC1L1-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000339390.1 1 6.921157 KEEP 0 0 0 23 727 TT 0.999892 0.999892 0 - 8 60 262 0 0 16.539588 140 60 5101 209 ENST00000381160.3 0.054054 1 TMED4 222068 __UNKNOWN__ __UNKNOWN__ 7 44617626 44617626 __UNKNOWN__ 3'UTR SNP A A G rs1055971 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:44617626A>G ENST00000289577.5 - 0 2069 TMED4_ENST00000457408.2_3'UTR Q7Z7H5 TMED4_HUMAN transmembrane emp24 protein transport domain containing 4 NA NA positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein transport (GO:0015031)|signal transduction (GO:0007165) endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) signal transducer activity (GO:0004871) breast(1)|endometrium(1)|large_intestine(2)|lung(2) 6 GTGTATTAAAATTTGTTCAAA 0.303 NA A||| 1198 0.239217 0.3086 0.0533 5008 , , NA 14872 0.4474 NA 0.0308 False NA ,,, NA NA NA 2504 0.2771 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC035467 CCDS5493.1 7p13 2004-12-21 ENSG00000158604 ENSG00000158604 222068 22301 protein-coding gene gene with protein product 612038 NA 12761501 Standard NM_182547 NM_182547 NA Approved HNLF uc003tli.3 Q7Z7H5 OTTHUMG00000129210 ENST00000289577.5:c.*1452T>C chr7.hg19:g.44617626A>G NA A4D2K8|B4DFJ4|Q56VW3|Q7Z432|Q8N2P6 hg19 0.02 9.843963 AAAxTTT COVERED NOVEL TMED4-005 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000339388.1 3 21.965119 KEEP 0 0 0 73 2332 AA 1 1 0 - 15 60 565 0 0 39.300773 225 60 8189 404 ENST00000289577.5 0.0625 1 TMED4 222068 __UNKNOWN__ __UNKNOWN__ 7 44617748 44617748 __UNKNOWN__ 3'UTR SNP C C T rs1055967 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:44617748C>T ENST00000289577.5 - 0 1947 TMED4_ENST00000457408.2_3'UTR Q7Z7H5 TMED4_HUMAN transmembrane emp24 protein transport domain containing 4 NA NA positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein transport (GO:0015031)|signal transduction (GO:0007165) endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) signal transducer activity (GO:0004871) breast(1)|endometrium(1)|large_intestine(2)|lung(2) 6 ACCGTGTATTCCCATACCCCC 0.483 NA C||| 1008 0.201278 0.1687 0.0476 5008 , , NA 15105 0.4474 NA 0.0298 False NA ,,, NA NA NA 2504 0.2771 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC035467 CCDS5493.1 7p13 2004-12-21 ENSG00000158604 ENSG00000158604 222068 22301 protein-coding gene gene with protein product 612038 NA 12761501 Standard NM_182547 NM_182547 NA Approved HNLF uc003tli.3 Q7Z7H5 OTTHUMG00000129210 ENST00000289577.5:c.*1330G>A chr7.hg19:g.44617748C>T NA A4D2K8|B4DFJ4|Q56VW3|Q7Z432|Q8N2P6 hg19 0.02 10.179159 ATTxCCA COVERED NOVEL TMED4-005 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000339388.1 0 19.290278 KEEP 0 1 25 73 2550 CC 1 1 0 - 15 60 502 0 0 31.707309 277 60 10320 436 ENST00000289577.5 0.05137 1 TMED4 222068 __UNKNOWN__ __UNKNOWN__ 7 44619644 44619644 __UNKNOWN__ Intron SNP A A C rs1136430 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:44619644A>C ENST00000289577.5 - 4 468 TMED4_ENST00000457408.2_Intron|TMED4_ENST00000481238.1_3'UTR Q7Z7H5 TMED4_HUMAN transmembrane emp24 protein transport domain containing 4 NA NA positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein transport (GO:0015031)|signal transduction (GO:0007165) endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) signal transducer activity (GO:0004871) breast(1)|endometrium(1)|large_intestine(2)|lung(2) 6 agaacattatactcagtgaaa 0.373 NA A||| 1008 0.201278 0.1687 0.0476 5008 , , NA 22583 0.4474 NA 0.0298 False NA ,,, NA NA NA 2504 0.2771 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC035467 CCDS5493.1 7p13 2004-12-21 ENSG00000158604 ENSG00000158604 222068 22301 protein-coding gene gene with protein product 612038 NA 12761501 Standard NM_182547 NM_182547 NA Approved HNLF uc003tli.3 Q7Z7H5 OTTHUMG00000129210 ENST00000289577.5:c.388-417T>G chr7.hg19:g.44619644A>C NA A4D2K8|B4DFJ4|Q56VW3|Q7Z432|Q8N2P6 hg19 0.02 2.289036 TATxCTC COVERED NOVEL TMED4-005 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000339388.1 3 12.63708 KEEP 0 0 0 42 1323 AA 1 0.999862 0 - 4 60 153 0 0 10.084488 87 60 3086 142 ENST00000289577.5 0.043956 0.999862 TMED4 222068 __UNKNOWN__ __UNKNOWN__ 7 44620855 44620855 __UNKNOWN__ Intron SNP A A G rs3750098 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:44620855A>G ENST00000289577.5 - 3 468 TMED4_ENST00000457408.2_Intron|TMED4_ENST00000481238.1_Intron|TMED4_ENST00000444131.2_Intron Q7Z7H5 TMED4_HUMAN transmembrane emp24 protein transport domain containing 4 NA NA positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein transport (GO:0015031)|signal transduction (GO:0007165) endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) signal transducer activity (GO:0004871) breast(1)|endometrium(1)|large_intestine(2)|lung(2) 6 GGAAACATGGAATGTATGAGT 0.522 NA A||| 1094 0.21845 0.2254 0.049 5008 , , NA 19496 0.4474 NA 0.0348 False NA ,,, NA NA NA 2504 0.2822 NA NA NA NA 0 A 796,3610 310.5+/-291.6 75,646,1482 65 64 64 -2.3 0 7 dbSNP_107 64 244,8356 93.5+/-155.5 4,236,4060 no intron TMED4 NM_182547.2 79,882,5542 GG,GA,AA 2.8372,18.0663,7.9963 44620855 1040,11966 2203 4300 6503 SO:0001627 intron_variant BC035467 CCDS5493.1 7p13 2004-12-21 ENSG00000158604 ENSG00000158604 222068 22301 protein-coding gene gene with protein product 612038 NA 12761501 Standard NM_182547 NM_182547 NA Approved HNLF uc003tli.3 Q7Z7H5 OTTHUMG00000129210 ENST00000289577.5:c.387+192T>C chr7.hg19:g.44620855A>G NA A4D2K8|B4DFJ4|Q56VW3|Q7Z432|Q8N2P6 hg19 0.02 3.995243 TGGxATG COVERED NOVEL TMED4-005 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000339388.1 1 11.726999 KEEP 0 0 0 39 1076 AA 1 1 0 - 5 60 177 0 0 10.634223 141 60 5016 193 ENST00000289577.5 0.034247 1 OGDH 4967 __UNKNOWN__ __UNKNOWN__ 7 44737679 44737679 __UNKNOWN__ Intron SNP A A G rs17133935 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:44737679A>G ENST00000449767.1 + 18 2436 OGDH_ENST00000444676.1_Intron|OGDH_ENST00000439616.2_Intron|OGDH_ENST00000222673.5_Intron|OGDH_ENST00000543843.1_Intron|OGDH_ENST00000447398.1_Intron NM_001165036.1 NP_001158508.1 Q02218 ODO1_HUMAN oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) NA NA 2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099) mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252) metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976) breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 36 Valproic Acid(DB00313) GAACCCTGCCATCAAGAAAAA 0.502 NA A||| 1507 0.300919 0.4864 0.1239 5008 , , NA 24031 0.4494 NA 0.0636 False NA ,,, NA NA NA 2504 0.2669 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D10523 CCDS34627.1, CCDS47580.1, CCDS55107.1 7p13-p11.2 2010-11-23 ENSG00000105953 ENSG00000105953 4967 1.2.4.2 8124 protein-coding gene gene with protein product 613022 NA 8020988, 1542694 Standard NM_002541 NA Approved E1k uc003tln.3 Q02218 OTTHUMG00000155304 ENST00000449767.1:c.2347-112A>G chr7.hg19:g.44737679A>G NA B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0 hg19 CCDS55107.1 0.02 1.844709 GCCxTCA COVERED NOVEL OGDH-002 NOVEL basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000339392.1 0 4.213124 KEEP 0 0 0 14 451 AA 0.995343 0.986349 0 + 4 70 132 0 0 8.671195 58 60 2107 87 ENST00000449767.1 0.064516 0.990964 OGDH 4967 __UNKNOWN__ __UNKNOWN__ 7 44747903 44747903 __UNKNOWN__ 3'UTR SNP T T C rs14239 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:44747903T>C ENST00000449767.1 + 0 3455 OGDH_ENST00000222673.5_3'UTR NM_001165036.1 NP_001158508.1 Q02218 ODO1_HUMAN oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) NA NA 2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099) mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252) metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976) breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 36 Valproic Acid(DB00313) CTGGCCACAATCCTCCCCACC 0.602 NA C||| 1686 0.336661 0.6188 0.134 5008 , , NA 16535 0.4474 NA 0.0636 False NA ,,, NA NA NA 2504 0.2658 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D10523 CCDS34627.1, CCDS47580.1, CCDS55107.1 7p13-p11.2 2010-11-23 ENSG00000105953 ENSG00000105953 4967 1.2.4.2 8124 protein-coding gene gene with protein product 613022 NA 8020988, 1542694 Standard NM_002541 NA Approved E1k uc003tln.3 Q02218 OTTHUMG00000155304 ENST00000449767.1:c.*305T>C chr7.hg19:g.44747903T>C NA B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0 hg19 CCDS55107.1 0.02 11.847749 CAAxCCT COVERED NOVEL OGDH-002 NOVEL basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000339392.1 2 11.433878 KEEP 0 0 0 38 1184 TT 1 1 0 + 15 60 565 0 0 38.195558 268 60 9552 430 ENST00000449767.1 0.053004 1 OGDH 4967 __UNKNOWN__ __UNKNOWN__ 7 44748330 44748330 __UNKNOWN__ 3'UTR SNP A A G rs12868 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:44748330A>G ENST00000222673.5 + 0 3846 NM_002541.3 NP_002532.2 Q02218 ODO1_HUMAN oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) NA NA 2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099) mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252) metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976) breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 36 Valproic Acid(DB00313) GGTAGCCACCACCGGGGCACT 0.627 NA G||| 4265 0.851637 0.9531 0.8127 5008 , , NA 14133 0.998 NA 0.6779 False NA ,,, NA NA NA 2504 0.7699 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D10523 CCDS34627.1, CCDS47580.1, CCDS55107.1 7p13-p11.2 2010-11-23 ENSG00000105953 ENSG00000105953 4967 1.2.4.2 8124 protein-coding gene gene with protein product 613022 NA 8020988, 1542694 Standard NM_002541 NA Approved E1k uc003tln.3 Q02218 OTTHUMG00000155304 ENST00000222673.5:c.*732A>G chr7.hg19:g.44748330A>G NA B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0 hg19 CCDS34627.1 0.02 14.912102 ACCxCCG COVERED NOVEL OGDH-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000339391.1 1 9.29744 KEEP 0 2 69 55 1703 AA 1 1 0 + 14 60 491 0 0 30.21694 339 60 12135 520 ENST00000222673.5 0.03966 1 OGDH 4967 __UNKNOWN__ __UNKNOWN__ 7 44748451 44748451 __UNKNOWN__ 3'UTR SNP G G A rs1058128 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:44748451G>A ENST00000222673.5 + 0 3967 NM_002541.3 NP_002532.2 Q02218 ODO1_HUMAN oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) NA NA 2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099) mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252) metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976) breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 36 Valproic Acid(DB00313) CTGATGCATCGTTTTCTTTGC 0.562 NA A||| 1685 0.336462 0.6188 0.134 5008 , , NA 14546 0.4464 NA 0.0636 False NA ,,, NA NA NA 2504 0.2658 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D10523 CCDS34627.1, CCDS47580.1, CCDS55107.1 7p13-p11.2 2010-11-23 ENSG00000105953 ENSG00000105953 4967 1.2.4.2 8124 protein-coding gene gene with protein product 613022 NA 8020988, 1542694 Standard NM_002541 NA Approved E1k uc003tln.3 Q02218 OTTHUMG00000155304 ENST00000222673.5:c.*853G>A chr7.hg19:g.44748451G>A NA B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0 hg19 CCDS34627.1 0.02 13.493236 ATCxTTT COVERED NOVEL OGDH-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000339391.1 3 9.630448 KEEP 0 0 0 32 1090 GG 0.999997 0.999997 0 + 13 60 491 0 0 31.642801 310 60 11196 412 ENST00000222673.5 0.040248 1 CCM2 83605 __UNKNOWN__ __UNKNOWN__ 7 45103481 45103481 __UNKNOWN__ Intron SNP A A G rs2304689 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:45103481A>G ENST00000258781.6 + 3 353 CCM2_ENST00000381112.3_Intron|CCM2_ENST00000461377.1_Intron|CCM2_ENST00000475551.1_Intron|CCM2_ENST00000541586.1_Intron|CCM2_ENST00000544363.1_Intron|CCM2_ENST00000474617.1_Intron NM_031443.3 NP_113631.1 Q9BSQ5 CCM2_HUMAN cerebral cavernous malformation 2 NA NA blood vessel endothelial cell differentiation (GO:0060837)|cell-cell junction organization (GO:0045216)|endothelial cell development (GO:0001885)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|inner ear development (GO:0048839)|integrin-mediated signaling pathway (GO:0007229)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|stress-activated MAPK cascade (GO:0051403)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845) cytoplasm (GO:0005737)|protein complex (GO:0043234) NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 CTCAGCTCCCATTTCTCATGG 0.498 NA A||| 1102 0.220048 0.2277 0.2752 5008 , , NA 21911 0.1905 NA 0.2078 False NA ,,, NA NA NA 2504 0.2137 NA NA NA NA 0 A ,,, 1128,3278 404.4+/-333.1 133,862,1208 129 125 126 ,,, -2.7 0 7 dbSNP_100 126 1832,6768 326.9+/-317.6 204,1424,2672 no intron,intron,intron,intron CCM2 NM_001029835.2,NM_001167934.1,NM_001167935.1,NM_031443.3 ,,, 337,2286,3880 GG,GA,AA 21.3023,25.6015,22.7587 ,,, ,,, 45103481 2960,10046 2203 4300 6503 SO:0001627 intron_variant BC004903 CCDS5500.1, CCDS34630.1, CCDS55108.1, CCDS55109.1 7p13 2014-09-17 2004-02-13 2004-02-18 ENSG00000136280 ENSG00000136280 83605 21708 protein-coding gene gene with protein product malcavernin 607929 chromosome 7 open reading frame 22 C7orf22 NA 9811928 Standard NM_031443 NM_001029835 NA Approved MGC4607 uc003tms.3 Q9BSQ5 OTTHUMG00000129246 ENST00000258781.6:c.205-36A>G chr7.hg19:g.45103481A>G NA A4D2L4|B3KUV0|D3DVL4|E9PDJ3|F5H0E1|F5H551|Q71RE5|Q8TAT4 hg19 CCDS5500.1 0.02 6.897531 CCCxTTT COVERED NOVEL CCM2-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000251348.1 0 11.734919 KEEP 0 0 0 39 1206 AA 1 1 0 + 11 60 388 0 0 25.843426 178 60 6290 286 ENST00000258781.6 0.058201 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 45119946 45119946 __UNKNOWN__ IGR SNP T T G rs35199312 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:45119946T>G NA NA CCM2 (3878 upstream) : NACAD (90 downstream) NA NA NA GGACACCAGATGGTGGTGAAG 0.587 NA G||| 1098 0.219249 0.2254 0.2723 5008 , , NA 23131 0.1905 NA 0.2087 False NA ,,, NA NA NA 2504 0.2137 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.45119946T>G NA hg19 0.02 7.670608 AGAxGGT COVERED NOVEL 0 1 3.643708 KEEP 0 1 34 24 706 TT 0.999931 0.999931 0 6 60 244 0 0 15.992507 164 60 5976 220 0.035294 1 NACAD 23148 __UNKNOWN__ __UNKNOWN__ 7 45122723 45122723 __UNKNOWN__ Missense_Mutation SNP G G A rs61740895 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:45122723G>A ENST00000490531.2 - 2 3075 c.3056C>T c.(3055-3057)gCg>gTg p.A1019V NM_001146334.1 NP_001139806.1 O15069 NACAD_HUMAN NAC alpha domain containing 1019 NA protein transport (GO:0015031) cytoplasm (GO:0005737)|nucleus (GO:0005634) breast(1)|endometrium(2)|skin(2) 5 AGTGGAATCCGCATCTTCCTG 0.622 NA G||| 1204 0.240415 0.0272 0.3833 5008 , , NA 21118 0.2877 NA 0.332 False NA ,,, NA NA NA 2504 0.2843 NA NA NA NA 0 G VAL/ALA 114,1270 8,98,586 19 18 19 3056 2 0 7 dbSNP_129 19 1117,2065 187,743,661 yes missense NACAD NM_001146334.1 64 195,841,1247 AA,AG,GG 35.1037,8.237,26.9601 benign 1019/1563 45122723 1231,3335 692 1591 2283 SO:0001583 missense AB002361 CCDS47582.1 7p13 2010-07-14 ENSG00000136274 ENSG00000136274 23148 22196 protein-coding gene gene with protein product NA Standard NM_001146334 NM_001146334 NA Approved KIAA0363 uc003tmt.3 O15069 OTTHUMG00000159170 ENST00000490531.2:c.3056C>T chr7.hg19:g.45122723G>A ENSP00000420477:p.Ala1019Val NA hg19 CCDS47582.1 0.02 12.141283 TCCxCAT COVERED 551 0.2522893772893773 13 0.026422764227642278 134 0.3701657458563536 150 0.26223776223776224 254 0.33509234828496043 G 7.346 0.621835 0.14193 0.08237 0.351037 ENSG00000136274 ENST00000490531 T 0.11385 2.78 3.79 1.97 0.26223 . 2.516370 0.03046 U 0.153903 T 0.00012 0.0000 N 0.03608 -0.345 0.80722 P 0.0 B 0.15473 0.013 B 0.06405 0.002 T 0.41998 -0.9477 9 0.02654 T 1 0.6018 3.6281 0.08121 0.2167:0.0:0.5896:0.1937 . 1019 O15069 NACAD_HUMAN V 1019 ENSP00000420477:A1019V ENSP00000420477:A1019V A - 2 0 NACAD 45089248 0.000000 0.05858 0.000000 0.03702 0.004000 0.04260 -0.103000 0.10940 0.395000 0.25257 -0.480000 0.04831 GCG NOVEL NACAD-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000353652.2 1 15.283367 KEEP 0 1 26 60 2127 GG 1 1 0 - 11 60 387 0 0 22.887035 329 60 11577 477 ENST00000490531.2 0.032353 1 NACAD 23148 __UNKNOWN__ __UNKNOWN__ 7 45124286 45124286 __UNKNOWN__ Missense_Mutation SNP A A G rs3735494 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:45124286A>G ENST00000490531.2 - 2 1512 c.1493T>C c.(1492-1494)gTg>gCg p.V498A NM_001146334.1 NP_001139806.1 O15069 NACAD_HUMAN NAC alpha domain containing 498 NA V -> A (in dbSNP:rs3735494). protein transport (GO:0015031) cytoplasm (GO:0005737)|nucleus (GO:0005634) breast(1)|endometrium(2)|skin(2) 5 TCTGGTAGCCACCTCCACCTG 0.602 NA a||| 1665 0.332468 0.354 0.4164 5008 , , NA 20244 0.2857 NA 0.335 False NA ,,, NA NA NA 2504 0.2894 NA NA NA NA 0 G ALA/VAL 535,849 104,327,261 41 44 43 1493 -5.1 0 7 dbSNP_107 43 1119,2063 190,739,662 yes missense NACAD NM_001146334.1 64 294,1066,923 GG,GA,AA 35.1666,38.6561,36.2243 possibly-damaging 498/1563 45124286 1654,2912 692 1591 2283 SO:0001583 missense AB002361 CCDS47582.1 7p13 2010-07-14 ENSG00000136274 ENSG00000136274 23148 22196 protein-coding gene gene with protein product NA Standard NM_001146334 NM_001146334 NA Approved KIAA0363 uc003tmt.3 O15069 OTTHUMG00000159170 ENST00000490531.2:c.1493T>C chr7.hg19:g.45124286A>G ENSP00000420477:p.Val498Ala NA hg19 CCDS47582.1 0.02 10.130469 GCCxCCT COVERED 724 0.3315018315018315 177 0.3597560975609756 144 0.39779005524861877 150 0.26223776223776224 253 0.3337730870712401 a 0.003 -2.391135 0.00200 0.386561 0.351666 ENSG00000136274 ENST00000490531 T 0.11385 2.78 2.54 -5.08 0.02929 . . . . . T 0.00012 0.0000 N 0.14661 0.345 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.31971 -0.9924 8 0.08381 T 0.77 6.4536 5.5272 0.16964 0.2234:0.0:0.2477:0.5289 rs3735494;rs3735494 498 O15069 NACAD_HUMAN A 498 ENSP00000420477:V498A ENSP00000420477:V498A V - 2 0 NACAD 45090811 0.000000 0.05858 0.000000 0.03702 0.002000 0.02628 -2.043000 0.01413 -4.430000 0.00049 -5.108000 0.00001 GTG NOVEL NACAD-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000353652.2 1 5.94913 KEEP 0 1 38 33 969 AA 0.999998 0.999998 0 - 13 60 418 0 0 25.936901 262 60 9012 376 ENST00000490531.2 0.047273 1 TBRG4 9238 __UNKNOWN__ __UNKNOWN__ 7 45143892 45143892 __UNKNOWN__ Intron SNP A A G rs6973982 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:45143892A>G ENST00000258770.3 - 5 1029 TBRG4_ENST00000395655.4_Intron|TBRG4_ENST00000361278.3_Intron|TBRG4_ENST00000494076.1_Intron NM_004749.3 NP_004740.2 Q969Z0 TBRG4_HUMAN transforming growth factor beta regulator 4 NA NA cell cycle arrest (GO:0007050)|cellular respiration (GO:0045333)|positive regulation of cell proliferation (GO:0008284) mitochondrion (GO:0005739) poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672) cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2) 17 TTAGCTGGAGAGAGTCAGCAA 0.547 NA A||| 639 0.127596 0.0068 0.2205 5008 , , NA 21438 0.1786 NA 0.162 False NA ,,, NA NA NA 2504 0.137 NA NA NA NA 0 A ,, 161,4245 107.8+/-146.2 5,151,2047 67 65 65 ,, -0.2 0 7 dbSNP_116 65 1446,7154 274.8+/-291.4 128,1190,2982 no intron,intron,intron TBRG4 NM_004749.2,NM_030900.2,NM_199122.1 ,, 133,1341,5029 GG,GA,AA 16.814,3.6541,12.3558 ,, ,, 45143892 1607,11399 2203 4300 6503 SO:0001627 intron_variant AB023165 CCDS5501.1, CCDS5502.1 7p13 2006-07-07 ENSG00000136270 ENSG00000136270 9238 17443 protein-coding gene gene with protein product FAST kinase domains 4, cell cycle progression 2 protein 611325 NA 9383053 Standard NM_030900 NM_004749 NA Approved Cpr2, KIAA0948, H_TD2522F11.8, FASTKD4 uc011kcd.3 Q969Z0 OTTHUMG00000129247 ENST00000258770.3:c.908-37T>C chr7.hg19:g.45143892A>G NA A4D2L2|A4D2L3|D3DVL5|D3DVL6|O14710|Q53GI8|Q8NDM4|Q9BUC6|Q9Y2F6 hg19 CCDS5501.1 0.02 12.7432 GAGxGAG COVERED NOVEL TBRG4-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251351.1 1 18.355771 KEEP 0 0 0 61 1970 AA 1 1 0 - 10 60 364 0 0 21.736794 319 60 11775 484 ENST00000258770.3 0.030395 1 TBRG4 9238 __UNKNOWN__ __UNKNOWN__ 7 45144113 45144113 __UNKNOWN__ Intron SNP C C T rs41280672 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:45144113C>T ENST00000258770.3 - 4 1029 TBRG4_ENST00000395655.4_Intron|TBRG4_ENST00000361278.3_Intron|TBRG4_ENST00000494076.1_Intron NM_004749.3 NP_004740.2 Q969Z0 TBRG4_HUMAN transforming growth factor beta regulator 4 NA NA cell cycle arrest (GO:0007050)|cellular respiration (GO:0045333)|positive regulation of cell proliferation (GO:0008284) mitochondrion (GO:0005739) poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672) cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2) 17 CCCCTCTCTCCACCGTTCTGT 0.577 NA C||| 639 0.127596 0.0068 0.2205 5008 , , NA 19422 0.1786 NA 0.162 False NA ,,, NA NA NA 2504 0.137 NA NA NA NA 0 C ,, 161,4245 107.8+/-146.2 5,151,2047 95 87 90 ,, 1 0 7 dbSNP_127 90 1447,7153 275.8+/-292.0 128,1191,2981 no intron,intron,intron TBRG4 NM_004749.2,NM_030900.2,NM_199122.1 ,, 133,1342,5028 TT,TC,CC 16.8256,3.6541,12.3635 ,, ,, 45144113 1608,11398 2203 4300 6503 SO:0001627 intron_variant AB023165 CCDS5501.1, CCDS5502.1 7p13 2006-07-07 ENSG00000136270 ENSG00000136270 9238 17443 protein-coding gene gene with protein product FAST kinase domains 4, cell cycle progression 2 protein 611325 NA 9383053 Standard NM_030900 NM_004749 NA Approved Cpr2, KIAA0948, H_TD2522F11.8, FASTKD4 uc011kcd.3 Q969Z0 OTTHUMG00000129247 ENST00000258770.3:c.907+23G>A chr7.hg19:g.45144113C>T NA A4D2L2|A4D2L3|D3DVL5|D3DVL6|O14710|Q53GI8|Q8NDM4|Q9BUC6|Q9Y2F6 hg19 CCDS5501.1 0.02 17.606734 CTCxACC COVERED NOVEL TBRG4-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251351.1 1 24.849338 KEEP 0 2 58 103 3634 CC 1 1 0 - 19 60 680 0 0 43.706059 390 60 14546 667 ENST00000258770.3 0.046455 1 TBRG4 9238 __UNKNOWN__ __UNKNOWN__ 7 45144494 45144494 __UNKNOWN__ Intron SNP T T C rs2289376 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:45144494T>C ENST00000258770.3 - 4 857 TBRG4_ENST00000395655.4_Intron|TBRG4_ENST00000361278.3_Intron|TBRG4_ENST00000494076.1_Intron NM_004749.3 NP_004740.2 Q969Z0 TBRG4_HUMAN transforming growth factor beta regulator 4 NA NA cell cycle arrest (GO:0007050)|cellular respiration (GO:0045333)|positive regulation of cell proliferation (GO:0008284) mitochondrion (GO:0005739) poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672) cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2) 17 AGGGAACCCCTGGACCTGGAG 0.632 NA t||| 2671 0.533347 0.7179 0.4957 5008 , , NA 18556 0.369 NA 0.4354 False NA ,,, NA NA NA 2504 0.5808 NA NA NA NA 0 C ,, 1233,519 442,349,85 63 61 62 ,, -7.3 0 7 dbSNP_100 62 1851,2131 430,991,570 no intron,intron,intron TBRG4 NM_004749.2,NM_030900.2,NM_199122.1 ,, 872,1340,655 CC,CT,TT 46.4842,29.6233,46.2156 ,, ,, 45144494 3084,2650 876 1991 2867 SO:0001627 intron_variant AB023165 CCDS5501.1, CCDS5502.1 7p13 2006-07-07 ENSG00000136270 ENSG00000136270 9238 17443 protein-coding gene gene with protein product FAST kinase domains 4, cell cycle progression 2 protein 611325 NA 9383053 Standard NM_030900 NM_004749 NA Approved Cpr2, KIAA0948, H_TD2522F11.8, FASTKD4 uc011kcd.3 Q969Z0 OTTHUMG00000129247 ENST00000258770.3:c.736-186A>G chr7.hg19:g.45144494T>C NA A4D2L2|A4D2L3|D3DVL5|D3DVL6|O14710|Q53GI8|Q8NDM4|Q9BUC6|Q9Y2F6 hg19 CCDS5501.1 0.02 2.373442 CCCxGGA COVERED NOVEL TBRG4-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251351.1 1 2.406116 KEEP 0 0 0 8 231 TT 0.99257 0.989319 0 - 4 60 148 0 0 10.052777 66 60 2366 84 ENST00000258770.3 0.057143 0.996724 TBRG4 9238 __UNKNOWN__ __UNKNOWN__ 7 45148773 45148773 __UNKNOWN__ Missense_Mutation SNP C C A rs2304694 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:45148773C>A ENST00000258770.3 - 2 185 c.64G>T c.(64-66)Gcc>Tcc p.A22S TBRG4_ENST00000395655.4_Missense_Mutation_p.A22S|TBRG4_ENST00000361278.3_Missense_Mutation_p.A22S|TBRG4_ENST00000494076.1_Missense_Mutation_p.A22S|TBRG4_ENST00000471142.1_5'UTR NM_004749.3 NP_004740.2 Q969Z0 TBRG4_HUMAN transforming growth factor beta regulator 4 22 NA A -> S (in dbSNP:rs2304694). {ECO:0000269|PubMed:17974005}. cell cycle arrest (GO:0007050)|cellular respiration (GO:0045333)|positive regulation of cell proliferation (GO:0008284) mitochondrion (GO:0005739) poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672) p.A22S(1) cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2) 17 GGAGCCATGGCAGGGGCCTGA 0.577 NA C||| 632 0.126198 0.0068 0.2205 5008 , , NA 18016 0.1766 NA 0.162 False NA ,,, NA NA NA 2504 0.1319 NA NA NA NA 1 Substitution - Missense(1) stomach(1) C SER/ALA,SER/ALA,SER/ALA 161,4245 107.8+/-146.2 5,151,2047 63 59 61 64,64,64 2.6 0.1 7 dbSNP_100 61 1447,7153 274.1+/-291.0 127,1193,2980 yes missense,missense,missense TBRG4 NM_004749.2,NM_030900.2,NM_199122.1 99,99,99 132,1344,5027 AA,AC,CC 16.8256,3.6541,12.3635 benign,benign,benign 22/632,22/522,22/522 45148773 1608,11398 2203 4300 6503 SO:0001583 missense AB023165 CCDS5501.1, CCDS5502.1 7p13 2006-07-07 ENSG00000136270 ENSG00000136270 9238 17443 protein-coding gene gene with protein product FAST kinase domains 4, cell cycle progression 2 protein 611325 NA 9383053 Standard NM_030900 NM_004749 NA Approved Cpr2, KIAA0948, H_TD2522F11.8, FASTKD4 uc011kcd.3 Q969Z0 OTTHUMG00000129247 ENST00000258770.3:c.64G>T chr7.hg19:g.45148773C>A ENSP00000258770:p.Ala22Ser NA A4D2L2|A4D2L3|D3DVL5|D3DVL6|O14710|Q53GI8|Q8NDM4|Q9BUC6|Q9Y2F6 hg19 CCDS5501.1 0.02 15.900651 TGGxAGG COVERED 306 0.1401098901098901 4 0.008130081300813009 69 0.19060773480662985 103 0.18006993006993008 130 0.17150395778364116 C 13.36 2.212885 0.39102 0.036541 0.168256 ENSG00000136270 ENST00000258770;ENST00000361278;ENST00000395655;ENST00000494076;ENST00000478532;ENST00000475893;ENST00000482285;ENST00000495078 T;T;T;T;T;T;T;T 0.52057 0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68 5.64 2.59 0.31030 . 0.671364 0.13840 N 0.359114 T 0.00073 0.0002 M 0.69823 2.125 0.80722 P 0.0 B;B;B 0.30686 0.088;0.29;0.088 B;B;B 0.33196 0.051;0.159;0.031 T 0.10965 -1.0607 9 0.08179 T 0.78 . 7.3904 0.26907 0.1194:0.6718:0.1314:0.0774 rs2304694;rs11541072;rs17550469;rs58693180;rs2304694 33;22;22 B4DU42;Q969Z0-2;Q969Z0 .;.;TBRG4_HUMAN S 22 ENSP00000258770:A22S;ENSP00000354992:A22S;ENSP00000379016:A22S;ENSP00000420597:A22S;ENSP00000418631:A22S;ENSP00000417324:A22S;ENSP00000417967:A22S;ENSP00000417071:A22S ENSP00000258770:A22S A - 1 0 TBRG4 45115298 0.000000 0.05858 0.135000 0.22099 0.647000 0.38526 -0.097000 0.11042 0.699000 0.31761 0.655000 0.94253 GCC NOVEL TBRG4-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251351.1 0 26.181264 KEEP 0 0 0 87 3074 CC 1 1 0 - 13 60 457 1 0 26.558491 421 60 15785 602 ENST00000258770.3 0.029954 1 TNS3 64759 __UNKNOWN__ __UNKNOWN__ 7 47315291 47315291 __UNKNOWN__ 3'UTR SNP G G A rs9876 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:47315291G>A ENST00000398879.1 - 0 7087 TNS3_ENST00000311160.9_3'UTR|TNS3_ENST00000355730.3_3'UTR Q68CZ2 TENS3_HUMAN tensin 3 NA NA cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284) cytoplasm (GO:0005737)|focal adhesion (GO:0005925) NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 64 TTCAGAAATCGTGGAAACTTG 0.443 NA G||| 1472 0.29393 0.1074 0.389 5008 , , NA 21272 0.4772 NA 0.2366 False NA ,,, NA NA NA 2504 0.3487 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF378756 CCDS5506.2 7p12.3 2013-02-14 2005-05-13 2005-05-13 ENSG00000136205 ENSG00000136205 64759 SH2 domain containing 21616 protein-coding gene gene with protein product tumor endothelial marker 6 606825 tensin-like SH2 domain-containing 1 TENS1 NA 11559528 Standard NM_022748 NM_022748 NA Approved TEM6, H_NH0549I23.2, FLJ13732 uc003tnw.3 Q68CZ2 OTTHUMG00000074075 ENST00000398879.1:c.*2383C>T chr7.hg19:g.47315291G>A NA B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48 hg19 CCDS5506.2 0.02 20.964062 ATCxTGG COVERED NOVEL TNS3-202 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000157253.1 5 15.64997 KEEP 1 0 0 52 1774 GG 1 1 0 - 23 60 848 0 0 56.159511 436 60 14597 592 ENST00000398879.1 0.050109 1 TNS3 64759 __UNKNOWN__ __UNKNOWN__ 7 47317046 47317046 __UNKNOWN__ 3'UTR SNP C C T rs3750161 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:47317046C>T ENST00000398879.1 - 0 5332 TNS3_ENST00000311160.9_3'UTR|TNS3_ENST00000355730.3_3'UTR Q68CZ2 TENS3_HUMAN tensin 3 NA NA cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284) cytoplasm (GO:0005737)|focal adhesion (GO:0005925) NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 64 ATGGGGTCTCCAACGTGGCCA 0.642 NA T||| 3528 0.704473 0.7345 0.781 5008 , , NA 14607 0.6359 NA 0.6809 False NA ,,, NA NA NA 2504 0.7045 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF378756 CCDS5506.2 7p12.3 2013-02-14 2005-05-13 2005-05-13 ENSG00000136205 ENSG00000136205 64759 SH2 domain containing 21616 protein-coding gene gene with protein product tumor endothelial marker 6 606825 tensin-like SH2 domain-containing 1 TENS1 NA 11559528 Standard NM_022748 NM_022748 NA Approved TEM6, H_NH0549I23.2, FLJ13732 uc003tnw.3 Q68CZ2 OTTHUMG00000074075 ENST00000398879.1:c.*628G>A chr7.hg19:g.47317046C>T NA B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48 hg19 CCDS5506.2 0.02 15.884918 CTCxAAC COVERED NOVEL TNS3-202 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000157253.1 0 18.961044 KEEP 0 0 0 63 2203 CC 1 1 0 - 15 60 533 0 0 33.232125 376 60 13894 520 ENST00000398879.1 0.038363 1 TNS3 64759 __UNKNOWN__ __UNKNOWN__ 7 47317324 47317324 __UNKNOWN__ 3'UTR SNP G G A rs3210894 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:47317324G>A ENST00000398879.1 - 0 5054 TNS3_ENST00000311160.9_3'UTR|TNS3_ENST00000355730.3_3'UTR Q68CZ2 TENS3_HUMAN tensin 3 NA NA cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284) cytoplasm (GO:0005737)|focal adhesion (GO:0005925) NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 64 CTCATCCCCCGGAATGCTAGT 0.642 NA G||| 1472 0.29393 0.1074 0.389 5008 , , NA 19598 0.4772 NA 0.2366 False NA ,,, NA NA NA 2504 0.3487 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF378756 CCDS5506.2 7p12.3 2013-02-14 2005-05-13 2005-05-13 ENSG00000136205 ENSG00000136205 64759 SH2 domain containing 21616 protein-coding gene gene with protein product tumor endothelial marker 6 606825 tensin-like SH2 domain-containing 1 TENS1 NA 11559528 Standard NM_022748 NM_022748 NA Approved TEM6, H_NH0549I23.2, FLJ13732 uc003tnw.3 Q68CZ2 OTTHUMG00000074075 ENST00000398879.1:c.*350C>T chr7.hg19:g.47317324G>A NA B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48 hg19 CCDS5506.2 0.02 15.466778 CCCxGAA COVERED NOVEL TNS3-202 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000157253.1 2 16.184711 KEEP 0 1 29 64 2187 GG 1 1 0 - 15 60 568 0 0 36.337025 376 60 13291 534 ENST00000398879.1 0.038363 1 TNS3 64759 __UNKNOWN__ __UNKNOWN__ 7 47318083 47318083 __UNKNOWN__ Intron SNP G G A rs868701 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:47318083G>A ENST00000398879.1 - 31 4560 TNS3_ENST00000311160.9_Intron|TNS3_ENST00000355730.3_Intron Q68CZ2 TENS3_HUMAN tensin 3 NA NA cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284) cytoplasm (GO:0005737)|focal adhesion (GO:0005925) NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 64 cccaggttaggacctgaatca 0.577 NA G||| 1472 0.29393 0.1074 0.389 5008 , , NA 19452 0.4772 NA 0.2366 False NA ,,, NA NA NA 2504 0.3487 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF378756 CCDS5506.2 7p12.3 2013-02-14 2005-05-13 2005-05-13 ENSG00000136205 ENSG00000136205 64759 SH2 domain containing 21616 protein-coding gene gene with protein product tumor endothelial marker 6 606825 tensin-like SH2 domain-containing 1 TENS1 NA 11559528 Standard NM_022748 NM_022748 NA Approved TEM6, H_NH0549I23.2, FLJ13732 uc003tnw.3 Q68CZ2 OTTHUMG00000074075 ENST00000398879.1:c.4194-265C>T chr7.hg19:g.47318083G>A NA B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48 hg19 CCDS5506.2 0.02 6.441585 TAGxACC COVERED NOVEL TNS3-202 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000157253.1 1 9.932263 KEEP 0 0 0 33 1160 GG 0.999998 0.999998 0 - 9 60 323 0 0 20.999989 175 60 6471 262 ENST00000398879.1 0.048913 1 TNS3 64759 __UNKNOWN__ __UNKNOWN__ 7 47318132 47318132 __UNKNOWN__ Intron SNP G G A rs885519 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:47318132G>A ENST00000398879.1 - 31 4560 TNS3_ENST00000311160.9_Intron|TNS3_ENST00000355730.3_Intron Q68CZ2 TENS3_HUMAN tensin 3 NA NA cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284) cytoplasm (GO:0005737)|focal adhesion (GO:0005925) NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 64 GCTTCCCCACGCCAGGGCCAG 0.587 NA G||| 1472 0.29393 0.1074 0.389 5008 , , NA 18964 0.4772 NA 0.2366 False NA ,,, NA NA NA 2504 0.3487 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF378756 CCDS5506.2 7p12.3 2013-02-14 2005-05-13 2005-05-13 ENSG00000136205 ENSG00000136205 64759 SH2 domain containing 21616 protein-coding gene gene with protein product tumor endothelial marker 6 606825 tensin-like SH2 domain-containing 1 TENS1 NA 11559528 Standard NM_022748 NM_022748 NA Approved TEM6, H_NH0549I23.2, FLJ13732 uc003tnw.3 Q68CZ2 OTTHUMG00000074075 ENST00000398879.1:c.4194-314C>T chr7.hg19:g.47318132G>A NA B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48 hg19 CCDS5506.2 0.02 6.561502 CACxCCA COVERED NOVEL TNS3-202 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000157253.1 2 9.931493 KEEP 0 0 0 33 1115 GG 0.999998 0.999998 0 - 11 60 383 0 0 25.212421 183 60 6349 260 ENST00000398879.1 0.056701 1 TNS3 64759 __UNKNOWN__ __UNKNOWN__ 7 47319723 47319723 __UNKNOWN__ Intron SNP C C T rs4720590 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:47319723C>T ENST00000398879.1 - 30 4560 TNS3_ENST00000311160.9_Intron|TNS3_ENST00000355730.3_Intron Q68CZ2 TENS3_HUMAN tensin 3 NA NA cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284) cytoplasm (GO:0005737)|focal adhesion (GO:0005925) NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 64 AGTACAACTGCAGACAAGGAG 0.363 NA T||| 3558 0.710463 0.7988 0.781 5008 , , NA 18769 0.5933 NA 0.674 False NA ,,, NA NA NA 2504 0.6994 NA NA NA NA 0 T 2833,813 1108,617,98 71 70 70 -5.5 0 7 dbSNP_111 70 5467,2689 1823,1821,434 no intron TNS3 NM_022748.11 2931,2438,532 TT,TC,CC 32.9696,22.2984,29.6729 47319723 8300,3502 1823 4078 5901 SO:0001627 intron_variant AF378756 CCDS5506.2 7p12.3 2013-02-14 2005-05-13 2005-05-13 ENSG00000136205 ENSG00000136205 64759 SH2 domain containing 21616 protein-coding gene gene with protein product tumor endothelial marker 6 606825 tensin-like SH2 domain-containing 1 TENS1 NA 11559528 Standard NM_022748 NM_022748 NA Approved TEM6, H_NH0549I23.2, FLJ13732 uc003tnw.3 Q68CZ2 OTTHUMG00000074075 ENST00000398879.1:c.4193+38G>A chr7.hg19:g.47319723C>T NA B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48 hg19 CCDS5506.2 0.02 26.860087 CTGxAGA COVERED NOVEL TNS3-202 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000157253.1 3 32.807011 KEEP 0 0 0 109 3914 CC 1 1 0 - 20 60 719 0 0 42.40103 651 60 25034 1003 ENST00000398879.1 0.029806 1 TNS3 64759 __UNKNOWN__ __UNKNOWN__ 7 47323456 47323456 __UNKNOWN__ Silent SNP A A G rs3750164 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:47323456A>G ENST00000398879.1 - 28 4302 c.3936T>C c.(3934-3936)aaT>aaC p.N1312N TNS3_ENST00000311160.9_Silent_p.N1312N|TNS3_ENST00000355730.3_Silent_p.N1072N Q68CZ2 TENS3_HUMAN tensin 3 1312 NA cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284) cytoplasm (GO:0005737)|focal adhesion (GO:0005925) NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 64 AGTACCACACATTGCAGGCTG 0.557 NA G||| 3516 0.702077 0.7405 0.7781 5008 , , NA 21725 0.6319 NA 0.6819 False NA ,,, NA NA NA 2504 0.6892 NA NA NA NA 0 G 3147,1041 1184,779,131 75 77 77 3936 -3.5 0.9 7 dbSNP_107 77 5659,2821 1877,1905,458 no coding-synonymous TNS3 NM_022748.11 3061,2684,589 GG,GA,AA 33.2665,24.8567,30.4863 1312/1446 47323456 8806,3862 2094 4240 6334 SO:0001819 synonymous_variant AF378756 CCDS5506.2 7p12.3 2013-02-14 2005-05-13 2005-05-13 ENSG00000136205 ENSG00000136205 64759 SH2 domain containing 21616 protein-coding gene gene with protein product tumor endothelial marker 6 606825 tensin-like SH2 domain-containing 1 TENS1 NA 11559528 Standard NM_022748 NM_022748 NA Approved TEM6, H_NH0549I23.2, FLJ13732 uc003tnw.3 Q68CZ2 OTTHUMG00000074075 ENST00000398879.1:c.3936T>C chr7.hg19:g.47323456A>G NA B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48 hg19 CCDS5506.2 0.02 11.52792 CACxTTG COVERED NOVEL TNS3-202 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000157253.1 1 10.901202 KEEP 0 2 65 59 1838 AA 1 1 0 - 11 60 409 0 0 26.525561 241 60 8807 396 ENST00000398879.1 0.043651 1 C7orf65 401335 __UNKNOWN__ __UNKNOWN__ 7 47699569 47699569 __UNKNOWN__ 3'UTR SNP A A C rs13230672 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:47699569A>C ENST00000408988.2 + 0 1234 NM_001123065.1 NP_001116537.1 Q6ZTY9 CG065_HUMAN chromosome 7 open reading frame 65 NA NA endometrium(1)|lung(2) 3 ACCCGGCAGCATCCCTGCTGG 0.657 NA A||| 911 0.181909 0.1558 0.1513 5008 , , NA 19882 0.3304 NA 0.1421 False NA ,,, NA NA NA 2504 0.1268 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS43580.1 7p12.3 2009-02-11 ENSG00000221845 ENSG00000221845 401335 34432 protein-coding gene gene with protein product NA Standard NM_001123065 NM_001123065 NA Approved FLJ44108 uc010kyp.1 Q6ZTY9 OTTHUMG00000155550 ENST00000408988.2:c.*743A>C chr7.hg19:g.47699569A>C NA A4D2F8 hg19 CCDS43580.1 0.02 23.737493 AGCxTCC COVERED NOVEL C7orf65-001 PUTATIVE basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000340616.1 5 27.981969 KEEP 0 0 0 93 2867 AA 1 1 0 + 17 60 618 0 0 36.683873 557 60 19651 798 ENST00000408988.2 0.029617 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 47763586 47763586 __UNKNOWN__ IGR SNP C C T rs139398722 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:47763586C>T NA NA C7orf65 (62340 upstream) : LINC00525 (37487 downstream) NA NA NA gtgatccgcccgcctcggcct 0.537 NA C||| 527 0.105232 0.1581 0.111 5008 , , NA 16375 0.0119 NA 0.1173 False NA ,,, NA NA NA 2504 0.1135 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.47763586C>T NA hg19 0.02 -0.14037 GCCxGCC COVERED NOVEL 0 4 2.407989 KEEP 0 0 0 8 294 CC 0.99257 0.259026 0 6 60 214 0 0 20.110389 8 60 286 30 0.428571 0.260965 PKD1L1 168507 __UNKNOWN__ __UNKNOWN__ 7 47852837 47852837 __UNKNOWN__ Missense_Mutation SNP C C T rs2290386 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:47852837C>T ENST00000289672.2 - 49 7278 c.7228G>A c.(7228-7230)Gaa>Aaa p.E2410K C7orf69_ENST00000418326.2_Intron|C7orf69_ENST00000258776.4_Intron NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 2410 NA E -> K (in dbSNP:rs2290386). detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337) calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886) calcium channel activity (GO:0005262) BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 CCTCCAACTTCGGGACTACAT 0.527 NA C||| 754 0.150559 0.0174 0.2133 5008 , , NA 20794 0.2153 NA 0.1799 False NA ,,, NA NA NA 2504 0.1892 NA NA NA NA 0 C ,LYS/GLU 226,4180 134.1+/-170.4 5,216,1982 103 106 105 ,7228 -9.8 0 7 dbSNP_100 105 1369,7231 266.5+/-286.8 101,1167,3032 yes intron,missense C7orf69,PKD1L1 NM_025031.2,NM_138295.3 ,56 106,1383,5014 TT,TC,CC 15.9186,5.1294,12.2636 ,possibly-damaging ,2410/2850 47852837 1595,11411 2203 4300 6503 SO:0001583 missense AB061683 CCDS34633.1 7p12.3 2008-07-18 ENSG00000158683 ENSG00000158683 168507 18053 protein-coding gene gene with protein product polycystin-1L1 609721 NA 11863367 Standard NM_138295 NM_138295 NA Approved PRO19563 uc003tny.2 Q8TDX9 OTTHUMG00000155649 ENST00000289672.2:c.7228G>A chr7.hg19:g.47852837C>T ENSP00000289672:p.Glu2410Lys NA Q6UWK1 hg19 CCDS34633.1 0.02 6.469419 CTTxGGG COVERED 342 0.1565934065934066 12 0.024390243902439025 85 0.23480662983425415 111 0.19405594405594406 134 0.17678100263852242 C 5.314 0.243209 0.10077 0.051294 0.159186 ENSG00000158683 ENST00000289672 T 0.19806 2.12 4.89 -9.77 0.00500 . 1.624130 0.03305 N 0.189679 T 0.00012 0.0000 N 0.04508 -0.205 0.80722 P 0.0 B 0.15719 0.014 B 0.06405 0.002 T 0.25745 -1.0123 9 0.06757 T 0.87 0.0 7.6032 0.28087 0.0:0.2043:0.4057:0.3901 rs2290386;rs17545543;rs57785392;rs2290386 2410 Q8TDX9 PK1L1_HUMAN K 2410 ENSP00000289672:E2410K ENSP00000289672:E2410K E - 1 0 PKD1L1 47819362 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -3.669000 0.00398 -1.502000 0.01814 -0.819000 0.03115 GAA NOVEL PKD1L1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000340974.1 2 11.401627 KEEP 0 0 0 38 1255 CC 1 1 0 - 10 60 330 0 0 21.705038 149 60 5358 239 ENST00000289672.2 0.062893 1 PKD1L1 168507 __UNKNOWN__ __UNKNOWN__ 7 47854956 47854956 __UNKNOWN__ Silent SNP C C T rs17545564 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:47854956C>T ENST00000289672.2 - 47 7115 c.7065G>A c.(7063-7065)ccG>ccA p.P2355P C7orf69_ENST00000418326.2_Intron|C7orf69_ENST00000258776.4_Intron NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 2355 NA detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337) calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886) calcium channel activity (GO:0005262) BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 CACGGGCTGACGGGGTGCCTC 0.557 NA c||| 739 0.147564 0.0174 0.2017 5008 , , NA 18335 0.2153 NA 0.173 False NA ,,, NA NA NA 2504 0.1892 NA NA NA NA 0 C , 222,4184 132.5+/-169.0 4,214,1985 59 56 57 ,7065 -7.9 0 7 dbSNP_123 57 1338,7262 262.5+/-284.5 96,1146,3058 no intron,coding-synonymous C7orf69,PKD1L1 NM_025031.2,NM_138295.3 , 100,1360,5043 TT,TC,CC 15.5581,5.0386,11.9945 , ,2355/2850 47854956 1560,11446 2203 4300 6503 SO:0001819 synonymous_variant AB061683 CCDS34633.1 7p12.3 2008-07-18 ENSG00000158683 ENSG00000158683 168507 18053 protein-coding gene gene with protein product polycystin-1L1 609721 NA 11863367 Standard NM_138295 NM_138295 NA Approved PRO19563 uc003tny.2 Q8TDX9 OTTHUMG00000155649 ENST00000289672.2:c.7065G>A chr7.hg19:g.47854956C>T NA Q6UWK1 hg19 CCDS34633.1 0.02 3.912766 TGAxGGG COVERED NOVEL PKD1L1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000340974.1 1 15.048874 KEEP 0 0 0 50 1751 CC 1 1 0 - 7 60 252 0 0 16.387152 137 60 4952 240 ENST00000289672.2 0.048611 1 PKD1L1 168507 __UNKNOWN__ __UNKNOWN__ 7 47874065 47874065 __UNKNOWN__ Intron SNP G G A rs17710874 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:47874065G>A ENST00000289672.2 - 40 6178 NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 NA NA detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337) calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886) calcium channel activity (GO:0005262) BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 GATTAGCGGGGACACTACTTT 0.403 NA G||| 825 0.164736 0.0212 0.2305 5008 , , NA 3577 0.2321 NA 0.2087 False NA ,,, NA NA NA 2504 0.1973 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB061683 CCDS34633.1 7p12.3 2008-07-18 ENSG00000158683 ENSG00000158683 168507 18053 protein-coding gene gene with protein product polycystin-1L1 609721 NA 11863367 Standard NM_138295 NM_138295 NA Approved PRO19563 uc003tny.2 Q8TDX9 OTTHUMG00000155649 ENST00000289672.2:c.6128-82C>T chr7.hg19:g.47874065G>A NA Q6UWK1 hg19 CCDS34633.1 0.02 6.070474 GGGxACA COVERED NOVEL PKD1L1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000340974.1 0 5.417535 KEEP 0 0 0 18 630 GG 0.999859 0.999859 0 - 6 60 217 0 0 13.473303 153 60 5660 198 ENST00000289672.2 0.037736 1 PKD1L1 168507 __UNKNOWN__ __UNKNOWN__ 7 47876787 47876787 __UNKNOWN__ Intron SNP A A G rs17710880 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:47876787A>G ENST00000289672.2 - 37 5820 NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 NA NA detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337) calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886) calcium channel activity (GO:0005262) BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 AGCAGAGACCACGAGCTTTCT 0.512 NA G||| 856 0.170927 0.0431 0.2305 5008 , , NA 21194 0.2331 NA 0.2087 False NA ,,, NA NA NA 2504 0.1984 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB061683 CCDS34633.1 7p12.3 2008-07-18 ENSG00000158683 ENSG00000158683 168507 18053 protein-coding gene gene with protein product polycystin-1L1 609721 NA 11863367 Standard NM_138295 NM_138295 NA Approved PRO19563 uc003tny.2 Q8TDX9 OTTHUMG00000155649 ENST00000289672.2:c.5770-95T>C chr7.hg19:g.47876787A>G NA Q6UWK1 hg19 CCDS34633.1 0.02 4.372319 ACCxCGA COVERED NOVEL PKD1L1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000340974.1 2 4.512494 KEEP 0 0 0 15 436 AA 0.99649 0.996468 0 - 5 60 187 0 0 12.40113 98 60 3413 130 ENST00000289672.2 0.048544 0.999978 PKD1L1 168507 __UNKNOWN__ __UNKNOWN__ 7 47879049 47879049 __UNKNOWN__ Missense_Mutation SNP G G A rs76100363 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:47879049G>A ENST00000289672.2 - 36 5814 c.5764C>T c.(5764-5766)Cgg>Tgg p.R1922W NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 1922 NA detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337) calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886) calcium channel activity (GO:0005262) BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 CCTACCTTCCGGAAGCCGAGT 0.642 NA G||| 816 0.162939 0.0174 0.2291 5008 , , NA 16788 0.2321 NA 0.2078 False NA ,,, NA NA NA 2504 0.1953 NA NA NA NA 0 G TRP/ARG 211,4195 3,205,1995 29 24 26 5764 -9.7 0.1 7 dbSNP_131 26 1513,7087 124,1265,2911 yes missense PKD1L1 NM_138295.3 101 127,1470,4906 AA,AG,GG 17.593,4.7889,13.2554 benign 1922/2850 47879049 1724,11282 2203 4300 6503 SO:0001583 missense AB061683 CCDS34633.1 7p12.3 2008-07-18 ENSG00000158683 ENSG00000158683 168507 18053 protein-coding gene gene with protein product polycystin-1L1 609721 NA 11863367 Standard NM_138295 NM_138295 NA Approved PRO19563 uc003tny.2 Q8TDX9 OTTHUMG00000155649 ENST00000289672.2:c.5764C>T chr7.hg19:g.47879049G>A ENSP00000289672:p.Arg1922Trp NA Q6UWK1 hg19 CCDS34633.1 0.02 8.375105 TCCxGAA COVERED 376 0.17216117216117216 11 0.022357723577235773 91 0.2513812154696133 120 0.2097902097902098 154 0.20316622691292877 G 6.846 0.525413 0.13066 0.047889 0.17593 ENSG00000158683 ENST00000289672 T 0.20738 2.05 4.87 -9.73 0.00512 . 1.518000 0.04159 N 0.322748 T 0.00012 0.0000 N 0.11064 0.09 0.58432 P 1.0000000000287557E-6 B 0.06786 0.001 B 0.01281 0.0 T 0.28776 -1.0033 9 0.48119 T 0.1 0.0923 8.3591 0.32348 0.6412:0.0:0.1727:0.1862 . 1922 Q8TDX9 PK1L1_HUMAN W 1922 ENSP00000289672:R1922W ENSP00000289672:R1922W R - 1 2 PKD1L1 47845574 0.000000 0.05858 0.055000 0.19348 0.255000 0.26057 -2.918000 0.00695 -2.336000 0.00628 -0.749000 0.03505 CGG NOVEL PKD1L1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000340974.1 0 9.627808 KEEP 0 0 0 32 1048 GG 0.999997 0.999997 0 - 8 60 280 0 0 17.016169 206 60 6907 283 ENST00000289672.2 0.037383 1 SUN3 256979 __UNKNOWN__ __UNKNOWN__ 7 48028512 48028512 __UNKNOWN__ Intron SNP G G C rs3736547 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:48028512G>C ENST00000297325.4 - 9 1021 SUN3_ENST00000473723.1_Intron|SUN3_ENST00000453192.2_Intron|SUN3_ENST00000395572.2_Intron|SUN3_ENST00000412142.1_Intron NM_001030019.1 NP_001025190.1 Q8TAQ9 SUN3_HUMAN Sad1 and UNC84 domain containing 3 NA NA integral component of membrane (GO:0016021)|SUN-KASH complex (GO:0034993) central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 AGATTGTAATGAATGGATGCA 0.368 NA G||| 1270 0.253594 0.0673 0.3458 5008 , , NA 19389 0.4484 NA 0.3082 False NA ,,, NA NA NA 2504 0.183 NA NA NA NA 0 G , 538,3866 231.4+/-245.2 39,460,1703 47 47 47 , -0.3 0 7 dbSNP_107 47 2724,5874 425.6+/-355.0 410,1904,1985 no intron,intron SUN3 NM_001030019.1,NM_152782.3 , 449,2364,3688 CC,CG,GG 31.6818,12.2162,25.0884 , , 48028512 3262,9740 2202 4299 6501 SO:0001627 intron_variant AF429967 CCDS34636.1, CCDS64647.1 7p12.3 2010-01-27 2010-01-27 2010-01-27 ENSG00000164744 ENSG00000164744 256979 22429 protein-coding gene gene with protein product Sad1 and UNC84 domain containing 1 SUNC1 NA Standard NM_152782 NM_001284350 NA Approved MGC33329 uc003tof.3 Q8TAQ9 OTTHUMG00000155646 ENST00000297325.4:c.862-35C>G chr7.hg19:g.48028512G>C NA A4D2F3|B4DXK1|D3DVM3|E7EWC8|Q4F965|Q7Z4U8 hg19 CCDS34636.1 0.02 1.845522 AATxAAT COVERED NOVEL SUN3-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000340962.1 0 2.708822 KEEP 0 0 0 9 317 GG 0.99254 0.992471 0 - 5 60 188 0 0 12.657295 91 60 3540 132 ENST00000297325.4 0.052083 0.99993 ABCA13 154664 __UNKNOWN__ __UNKNOWN__ 7 48321010 48321010 __UNKNOWN__ Missense_Mutation SNP G G A rs79809732 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:48321010G>A ENST00000435803.1 + 19 8821 c.8797G>A c.(8797-8799)Gtg>Atg p.V2933M NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 2933 NA transport (GO:0006810) integral component of membrane (GO:0016021) ATP binding (GO:0005524)|ATPase activity (GO:0016887) breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 GCTGCAGAAAGTGAAGATGAT 0.443 NA G||| 105 0.0209665 0.0 0.013 5008 , , NA 20123 0.0933 NA 0.001 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 G MET/VAL 0,4022 0,0,2011 123 120 121 8797 3 0.3 7 dbSNP_131 121 5,8411 0,5,4203 yes missense ABCA13 NM_152701.3 21 0,5,6214 AA,AG,GG 0.0594,0.0,0.0402 benign 2933/5059 48321010 5,12433 2011 4208 6219 SO:0001583 missense AY204751 CCDS47584.1 7p12.3 2012-03-14 ENSG00000179869 ENSG00000179869 154664 ATP binding cassette transporters / subfamily A 14638 protein-coding gene gene with protein product 607807 NA 12697998 Standard NM_152701 NM_152701 NA Approved FLJ33876, FLJ33951 uc003toq.2 Q86UQ4 OTTHUMG00000155840 ENST00000435803.1:c.8797G>A chr7.hg19:g.48321010G>A ENSP00000411096:p.Val2933Met NA K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248 hg19 CCDS47584.1 0.02 13.169115 AAAxTGA COVERED 50 0.022893772893772892 0 0.0 1 0.0027624309392265192 48 0.08391608391608392 1 0.0013192612137203166 G 11.59 1.683788 0.29872 0.0 5.94E-4 ENSG00000179869 ENST00000435803 D 0.89681 -2.55 4.81 3.0 0.34707 . 0.292144 0.24294 N 0.039800 T 0.21468 0.0517 L 0.32530 0.975 0.35623 D 0.809567 B;B 0.32101 0.356;0.3 B;B 0.29598 0.104;0.023 T 0.60100 -0.7329 10 0.35671 T 0.21 . 7.9336 0.29916 0.1941:0.0:0.8059:0.0 . 635;2933 Q86UQ4-3;Q86UQ4 .;ABCAD_HUMAN M 2933 ENSP00000411096:V2933M ENSP00000411096:V2933M V + 1 0 ABCA13 48291556 0.363000 0.24989 0.254000 0.24359 0.840000 0.47671 2.340000 0.43974 0.545000 0.28902 0.650000 0.86243 GTG NOVEL ABCA13-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000341964.2 1 12.641175 KEEP 0 0 0 42 1492 GG 1 1 0 + 10 60 363 0 0 22.005001 293 60 11222 434 ENST00000435803.1 0.033003 1 ABCA13 154664 __UNKNOWN__ __UNKNOWN__ 7 48450157 48450157 __UNKNOWN__ Silent SNP T T C rs17548783 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:48450157T>C ENST00000435803.1 + 40 12135 c.12111T>C c.(12109-12111)gcT>gcC p.A4037A NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 4037 ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}. NA transport (GO:0006810) integral component of membrane (GO:0016021) ATP binding (GO:0005524)|ATPase activity (GO:0016887) breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 TGGATGAAGCTGAAGCGCTGA 0.632 NA C||| 2317 0.46266 0.4614 0.5202 5008 , , NA 18124 0.5784 NA 0.4692 False NA ,,, NA NA NA 2504 0.2975 NA NA NA NA 0 C 1925,2219 461,1003,608 110 108 109 12111 -10.7 0 7 dbSNP_123 109 3940,4494 934,2072,1211 yes coding-synonymous ABCA13 NM_152701.3 1395,3075,1819 CC,CT,TT 46.7157,46.4527,46.629 4037/5059 48450157 5865,6713 2072 4217 6289 SO:0001819 synonymous_variant AY204751 CCDS47584.1 7p12.3 2012-03-14 ENSG00000179869 ENSG00000179869 154664 ATP binding cassette transporters / subfamily A 14638 protein-coding gene gene with protein product 607807 NA 12697998 Standard NM_152701 NM_152701 NA Approved FLJ33876, FLJ33951 uc003toq.2 Q86UQ4 OTTHUMG00000155840 ENST00000435803.1:c.12111T>C chr7.hg19:g.48450157T>C NA K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248 hg19 CCDS47584.1 0.02 17.395897 AGCxGAA COVERED NOVEL ABCA13-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000341964.2 2 7.15694 KEEP 0 1 38 37 1147 TT 1 1 0 + 13 60 454 1 0 25.695616 466 60 17617 654 ENST00000435803.1 0.02714 1 ABCA13 154664 __UNKNOWN__ __UNKNOWN__ 7 48546011 48546011 __UNKNOWN__ Intron SNP T T C rs12669976 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:48546011T>C ENST00000435803.1 + 49 13370 ABCA13_ENST00000544596.1_Intron NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 NA NA transport (GO:0006810) integral component of membrane (GO:0016021) ATP binding (GO:0005524)|ATPase activity (GO:0016887) breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 TGCTGAGGGGTGTGTGACCCT 0.443 NA T||| 788 0.157348 0.2943 0.1758 5008 , , NA 21054 0.1399 NA 0.0765 False NA ,,, NA NA NA 2504 0.0603 NA NA NA NA 0 T 916,3336 88,740,1298 110 116 114 -4.5 0 7 dbSNP_120 114 646,7830 21,604,3613 no intron ABCA13 NM_152701.3 109,1344,4911 CC,CT,TT 7.6215,21.5428,12.2722 48546011 1562,11166 2126 4238 6364 SO:0001627 intron_variant AY204751 CCDS47584.1 7p12.3 2012-03-14 ENSG00000179869 ENSG00000179869 154664 ATP binding cassette transporters / subfamily A 14638 protein-coding gene gene with protein product 607807 NA 12697998 Standard NM_152701 NM_152701 NA Approved FLJ33876, FLJ33951 uc003toq.2 Q86UQ4 OTTHUMG00000155840 ENST00000435803.1:c.13346+25T>C chr7.hg19:g.48546011T>C NA K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248 hg19 CCDS47584.1 0.02 13.188765 GGGxGTG COVERED NOVEL ABCA13-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000341964.2 2 6.015949 KEEP 0 0 0 20 611 TT 0.999863 0.999863 0 + 10 60 338 0 0 20.099308 291 60 10020 379 ENST00000435803.1 0.033223 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 48884848 48884848 __UNKNOWN__ IGR SNP G G A rs201905981 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:48884848G>A NA NA AC091770.3 (181947 upstream) : AC004899.1 (2513 downstream) NA NA NA ACTCTTTGGTGGAAGACAAGC 0.333 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.48884848G>A NA hg19 0.02 20.497563 GGTxGAA COVERED NOVEL 0 3 5.086594 KEEP 0 2 63 39 1389 GG 1 1 0 15 21 540 0 0 31.485284 519 60 19390 692 0.02809 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 48886607 48886607 __UNKNOWN__ IGR SNP A A G rs28657654 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:48886607A>G NA NA AC091770.3 (183706 upstream) : AC004899.1 (754 downstream) NA NA NA AGAAAAGATCATGGTGATCGA 0.388 NA A||| 933 0.186302 0.0076 0.1916 5008 , , NA 19130 0.2946 NA 0.2028 False NA ,,, NA NA NA 2504 0.2955 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.48886607A>G NA hg19 0.02 10.333738 ATCxTGG COVERED NOVEL 0 2 8.123561 KEEP 3 0 0 27 828 AA 0.999957 0.999957 0 9 49 322 0 0 19.48759 253 60 9253 321 0.034351 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 48964751 48964751 __UNKNOWN__ IGR SNP G G A rs61731347 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:48964751G>A NA NA AC004899.1 (73530 upstream) : AC010971.1 (304981 downstream) NA NA NA AGGCAATGCAGTATGGCTTCC 0.358 NA G||| 1011 0.201877 0.0076 0.1556 5008 , , NA 21166 0.3978 NA 0.1779 False NA ,,, NA NA NA 2504 0.32 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.48964751G>A NA hg19 0.02 16.711731 GCAxTAT COVERED NOVEL 0 2 8.728506 KEEP 16 0 0 29 1027 GG 0.999997 0.999997 0 14 60 517 1 0 31.71976 407 60 15440 513 0.033254 1 C7orf72 100130988 __UNKNOWN__ __UNKNOWN__ 7 50135811 50135811 __UNKNOWN__ Missense_Mutation SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:50135811G>A ENST00000297001.6 + 1 180 c.130G>A c.(130-132)Gtg>Atg p.V44M NM_001161834.2 NP_001155306 A4D263 CG072_HUMAN chromosome 7 open reading frame 72 44 NA NS(1)|breast(1)|endometrium(2)|kidney(1)|lung(1)|ovary(1)|prostate(2) 9 CATGCCTTTTGTGAAAGGTCT 0.368 NA NA NA NA NA NA NA NA NA NA NA 0 96 92 93 NA NA 7 NA 50135811 692 1591 2283 SO:0001583 missense CCDS47585.1 7p12.2 2009-10-15 ENSG00000164500 ENSG00000164500 100130988 22564 protein-coding gene gene with protein product NA Standard NM_001161834 NM_001161834 NA Approved uc011kcj.2 A4D263 OTTHUMG00000155883 ENST00000297001.6:c.130G>A chr7.hg19:g.50135811G>A ENSP00000297001:p.Val44Met NA A6NDX9 hg19 CCDS47585.1 0.02 23.340137 TTTxTGA COVERED . . . . . . . . . . G 17.52 3.411182 0.62399 . . ENSG00000164500 ENST00000297001 . . . 5.68 5.68 0.88126 . . . . . T 0.52289 0.1725 L 0.48642 1.525 0.25900 N 0.983362 D 0.60575 0.988 P 0.61658 0.892 T 0.46289 -0.9202 7 . . . . 10.0946 0.42466 0.095:0.0:0.905:0.0 . 44 A4D263 CG072_HUMAN M 44 . . V + 1 0 C7orf72 50106357 1.000000 0.71417 1.000000 0.80357 0.944000 0.59088 3.011000 0.49567 2.678000 0.91216 0.491000 0.48974 GTG NOVEL C7orf72-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000342124.1 4 16.553402 KEEP 0 0 0 55 1922 GG 1 1 0 + 20 60 743 0 0 45.851357 575 60 21538 699 ENST00000297001.6 0.033613 1 FIGNL1 63979 __UNKNOWN__ __UNKNOWN__ 7 50512284 50512284 __UNKNOWN__ 3'UTR SNP T T C rs2305358 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:50512284T>C ENST00000433017.1 - 0 3516 FIGNL1_ENST00000395556.2_3'UTR|FIGNL1_ENST00000356889.4_3'UTR Q6PIW4 FIGL1_HUMAN fidgetin-like 1 NA NA ATP metabolic process (GO:0046034)|cellular response to ionizing radiation (GO:0071479)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|regulation of cell cycle (GO:0051726)|regulation of double-strand break repair via homologous recombination (GO:0010569) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634) ATP binding (GO:0005524)|hydrolase activity (GO:0016787)|magnesium ion binding (GO:0000287) endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1) 29 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06) TGAAAACTTGTTTTTGAAAGA 0.284 NA T||| 2906 0.580272 0.4297 0.7205 5008 , , NA 17935 0.5198 NA 0.7137 False NA ,,, NA NA NA 2504 0.6094 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK023142 CCDS5510.1 7p12.2 2010-04-21 ENSG00000132436 ENSG00000132436 63979 ATPases / AAA-type 13286 protein-coding gene gene with protein product 615383 NA Standard NM_001042762 XM_005271783 NA Approved uc003tpc.3 Q6PIW4 OTTHUMG00000022866 ENST00000433017.1:c.*677A>G chr7.hg19:g.50512284T>C NA D3DVM6|Q86V18|Q8ND59|Q9H8P1|Q9H917 hg19 CCDS5510.1 0.02 6.96252 TTGxTTT COVERED NOVEL FIGNL1-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000342578.1 0 8.424904 KEEP 0 0 0 28 894 TT 0.999997 0.999997 0 - 6 60 235 0 0 15.077148 165 60 5903 241 ENST00000433017.1 0.035088 1 DDC 1644 __UNKNOWN__ __UNKNOWN__ 7 50545191 50545191 __UNKNOWN__ Intron SNP C C A rs4992502 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:50545191C>A ENST00000426377.1 - 9 856 DDC_ENST00000444124.2_Intron|DDC_ENST00000431062.1_Intron|DDC_ENST00000357936.5_Intron NM_001242888.1 NP_001229817 P20711 DDC_HUMAN dopa decarboxylase (aromatic L-amino acid decarboxylase) NA NA catecholamine biosynthetic process (GO:0042423)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to growth factor stimulus (GO:0071363)|circadian rhythm (GO:0007623)|dopamine biosynthetic process (GO:0042416)|indolalkylamine biosynthetic process (GO:0046219)|isoquinoline alkaloid metabolic process (GO:0033076)|multicellular organismal aging (GO:0010259)|phytoalexin metabolic process (GO:0052314)|response to pyrethroid (GO:0046684)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)|synaptic vesicle amine transport (GO:0015842) axon (GO:0030424)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|synaptic vesicle (GO:0008021) amino acid binding (GO:0016597)|aromatic-L-amino-acid decarboxylase activity (GO:0004058)|enzyme binding (GO:0019899)|L-dopa decarboxylase activity (GO:0036468)|pyridoxal phosphate binding (GO:0030170) breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1) 40 Glioma(55;0.08)|all_neural(89;0.245) Amantadine(DB00915)|Carbidopa(DB00190)|Cycloserine(DB00260)|Droxidopa(DB06262)|Flupentixol(DB00875)|L-DOPA(DB01235)|L-Tryptophan(DB00150)|Methyldopa(DB00968) CCATAGCAGGCCCTGACCATG 0.567 NA C||| 2645 0.528155 0.5113 0.621 5008 , , NA 19760 0.4583 NA 0.5686 False NA ,,, NA NA NA 2504 0.5153 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS5511.1, CCDS56485.1, CCDS56486.1, CCDS56487.1, CCDS75598.1, CCDS75599.1 7p12.1 2012-08-30 ENSG00000132437 ENSG00000132437 1644 4.1.1.28 2719 protein-coding gene gene with protein product 107930 NA 1612608 Standard NM_001082971 NA Approved AADC uc003tpf.4 P20711 OTTHUMG00000023353 ENST00000426377.1:c.788-850G>T chr7.hg19:g.50545191C>A NA C9IYA0|E7ER62|E7EU95|Q16723|Q5W5T9|Q75MJ6 hg19 CCDS56485.1 0.02 1.933378 AGGxCCT COVERED NOVEL DDC-013 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000342604.1 1 4.211348 KEEP 0 0 0 14 459 CC 0.995343 0.995022 0 - 5 60 181 0 0 12.204304 81 60 2924 115 ENST00000426377.1 0.05814 0.999678 DDC 1644 __UNKNOWN__ __UNKNOWN__ 7 50560314 50560314 __UNKNOWN__ Intron SNP G G T rs13234331 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:50560314G>T ENST00000426377.1 - 7 779 DDC_ENST00000444124.2_Intron|DDC_ENST00000431062.1_Intron|DDC_ENST00000357936.5_Intron NM_001242888.1 NP_001229817 P20711 DDC_HUMAN dopa decarboxylase (aromatic L-amino acid decarboxylase) NA NA catecholamine biosynthetic process (GO:0042423)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to growth factor stimulus (GO:0071363)|circadian rhythm (GO:0007623)|dopamine biosynthetic process (GO:0042416)|indolalkylamine biosynthetic process (GO:0046219)|isoquinoline alkaloid metabolic process (GO:0033076)|multicellular organismal aging (GO:0010259)|phytoalexin metabolic process (GO:0052314)|response to pyrethroid (GO:0046684)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)|synaptic vesicle amine transport (GO:0015842) axon (GO:0030424)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|synaptic vesicle (GO:0008021) amino acid binding (GO:0016597)|aromatic-L-amino-acid decarboxylase activity (GO:0004058)|enzyme binding (GO:0019899)|L-dopa decarboxylase activity (GO:0036468)|pyridoxal phosphate binding (GO:0030170) breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1) 40 Glioma(55;0.08)|all_neural(89;0.245) Amantadine(DB00915)|Carbidopa(DB00190)|Cycloserine(DB00260)|Droxidopa(DB06262)|Flupentixol(DB00875)|L-DOPA(DB01235)|L-Tryptophan(DB00150)|Methyldopa(DB00968) TTCTCTTGTGGCAGACTTCCA 0.507 NA G||| 1757 0.350839 0.2731 0.4207 5008 , , NA 18499 0.3581 NA 0.4016 False NA ,,, NA NA NA 2504 0.3466 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS5511.1, CCDS56485.1, CCDS56486.1, CCDS56487.1, CCDS75598.1, CCDS75599.1 7p12.1 2012-08-30 ENSG00000132437 ENSG00000132437 1644 4.1.1.28 2719 protein-coding gene gene with protein product 107930 NA 1612608 Standard NM_001082971 NA Approved AADC uc003tpf.4 P20711 OTTHUMG00000023353 ENST00000426377.1:c.710+2733C>A chr7.hg19:g.50560314G>T NA C9IYA0|E7ER62|E7EU95|Q16723|Q5W5T9|Q75MJ6 hg19 CCDS56485.1 0.02 -0.403543 GTGxCAG COVERED NOVEL DDC-013 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000342604.1 0 3.30593 KEEP 0 0 0 11 359 GG 0.993072 0.928018 0 - 3 60 109 0 0 7.516352 43 60 1551 61 ENST00000426377.1 0.065217 0.934492 COBL 23242 __UNKNOWN__ __UNKNOWN__ 7 51251973 51251973 __UNKNOWN__ Intron SNP A A T rs76437960 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:51251973A>T ENST00000265136.7 - 5 851 COBL_ENST00000395542.2_Intron|COBL_ENST00000395540.2_Intron|COBL_ENST00000441453.1_Intron NM_015198.3 NP_056013.2 O75128 COBL_HUMAN cordon-bleu WH2 repeat protein NA NA actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757) actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726) actin monomer binding (GO:0003785) NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Glioma(55;0.08) AAATCTTAATAAATGAATCCT 0.338 NA A||| 248 0.0495208 0.0 0.0072 5008 , , NA 14502 0.0615 NA 0.0 False NA ,,, NA NA NA 2504 0.1851 NA NA NA NSCLC(189;2119 2138 12223 30818 34679) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB014533 CCDS34637.1, CCDS75601.1, CCDS75602.1 7p12.2-p12.1 2012-12-07 2012-12-07 ENSG00000106078 ENSG00000106078 23242 22199 protein-coding gene gene with protein product 610317 cordon-bleu homolog (mouse) NA Standard NM_015198 NM_015198 NA Approved KIAA0633 uc003tpr.4 O75128 OTTHUMG00000155999 ENST00000265136.7:c.686-77T>A chr7.hg19:g.51251973A>T NA A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1 hg19 CCDS34637.1 0.02 1.821497 AATxAAT COVERED NOVEL COBL-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000342682.1 1 7.521122 KEEP 0 0 0 25 748 AA 0.999931 0.998626 0 - 5 60 180 0 0 12.380229 71 60 2554 120 ENST00000265136.7 0.065789 0.998696 COBL 23242 __UNKNOWN__ __UNKNOWN__ 7 51287470 51287470 __UNKNOWN__ Silent SNP A A G rs801142 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:51287470A>G ENST00000265136.7 - 2 378 c.213T>C c.(211-213)agT>agC p.S71S COBL_ENST00000395542.2_Silent_p.S71S|COBL_ENST00000395540.2_Silent_p.S71S|COBL_ENST00000441453.1_Silent_p.S71S NM_015198.3 NP_056013.2 O75128 COBL_HUMAN cordon-bleu WH2 repeat protein 71 NA actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757) actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726) actin monomer binding (GO:0003785) NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Glioma(55;0.08) TCTCCAGCCCACTAGGCAGGA 0.627 NA G||| 3788 0.75639 0.7572 0.804 5008 , , NA 18870 0.7817 NA 0.7425 False NA ,,, NA NA NA 2504 0.7096 NA NA NA NSCLC(189;2119 2138 12223 30818 34679) NA 0 G 3239,1167 410.9+/-335.5 1198,843,162 76 75 75 213 -1 0.9 7 dbSNP_86 75 6380,2220 377.5+/-338.5 2385,1610,305 no coding-synonymous COBL NM_015198.3 3583,2453,467 GG,GA,AA 25.814,26.4866,26.0418 71/1262 51287470 9619,3387 2203 4300 6503 SO:0001819 synonymous_variant AB014533 CCDS34637.1, CCDS75601.1, CCDS75602.1 7p12.2-p12.1 2012-12-07 2012-12-07 ENSG00000106078 ENSG00000106078 23242 22199 protein-coding gene gene with protein product 610317 cordon-bleu homolog (mouse) NA Standard NM_015198 NM_015198 NA Approved KIAA0633 uc003tpr.4 O75128 OTTHUMG00000155999 ENST00000265136.7:c.213T>C chr7.hg19:g.51287470A>G NA A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1 hg19 CCDS34637.1 0.02 9.435264 CCCxCTA COVERED NOVEL COBL-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000342682.1 0 9.023511 KEEP 0 0 0 30 892 AA 0.999997 0.999997 0 - 13 60 453 0 0 30.430339 194 60 6907 302 ENST00000265136.7 0.062802 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 53254964 53254964 __UNKNOWN__ IGR SNP T T C rs6593060 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:53254964T>C NA NA POM121L12 (150347 upstream) : RNU1-14P (178786 downstream) NA NA NA GGAGCAGGCGTTGGCAATGGA 0.587 NA T||| 1359 0.271366 0.3971 0.2579 5008 , , NA 14174 0.2381 NA 0.2167 False NA ,,, NA NA NA 2504 0.2014 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.53254964T>C NA hg19 0.02 2.216082 GCGxTGG COVERED NOVEL 0 0 3.307736 KEEP 1 0 0 11 311 TT 0.993072 0.992842 0 5 60 182 0 0 12.256991 83 60 2878 110 0.056818 0.999768 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 53255076 53255076 __UNKNOWN__ IGR SNP C C G rs6593061 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:53255076C>G NA NA POM121L12 (150459 upstream) : RNU1-14P (178674 downstream) NA NA NA GTGCCTACCGCGAGGATGAGC 0.632 NA C||| 1143 0.228235 0.4516 0.1311 5008 , , NA 15165 0.2351 NA 0.1173 False NA ,,, NA NA NA 2504 0.1022 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.53255076C>G NA hg19 0.02 6.854308 CCGxGAG COVERED NOVEL 0 1 9.266216 KEEP 1 1 38 44 1566 CC 1 1 0 7 60 256 0 0 16.236357 165 60 5841 278 0.040698 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 53931855 53931855 __UNKNOWN__ IGR SNP G G A rs17645124 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:53931855G>A NA NA GS1-179L18.1 (52231 upstream) : RP11-806J6.1 (62513 downstream) NA NA NA AAGTAGTACCGTGAGATGTGT 0.418 NA -||| 356 0.0710863 0.0159 0.085 5008 , , NA 14267 0.0615 NA 0.1223 False NA ,,, NA NA NA 2504 0.093 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.53931855G>A NA hg19 0.02 11.402191 ACCxTGA COVERED NOVEL 0 5 11.134885 KEEP 0 0 0 37 1277 GG 1 1 0 10 60 378 0 0 24.256688 245 60 8170 330 0.039216 1 EGFR 1956 __UNKNOWN__ __UNKNOWN__ 7 55214443 55214443 __UNKNOWN__ Intron SNP G G A rs7801956 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:55214443G>A ENST00000455089.1 + 3 681 EGFR_ENST00000420316.2_Intron|EGFR_ENST00000454757.2_Intron|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000342916.3_Intron|EGFR_ENST00000344576.2_Intron|EGFR_ENST00000275493.2_Intron P00533 EGFR_HUMAN epidermal growth factor receptor NA NA activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412) apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435) actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294) TGTAAGTGTCGCATACACACT 0.522 8 A, O, Mis glioma, NSCLC NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) G||| 277 0.0553115 0.0091 0.0389 5008 , , NA 18994 0.0466 NA 0.0934 False NA ,,, NA NA NA 2504 0.0992 NA NA NA yes Dom yes Familial lung cancer 7 7p12.3-p12.1 1956 epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian) E, O 0 G ,,, 96,4310 78.8+/-117.2 0,96,2107 95 75 82 ,,, -0.1 0 7 dbSNP_116 82 787,7813 183.9+/-232.0 33,721,3546 no intron,intron,intron,intron EGFR NM_005228.3,NM_201282.1,NM_201283.1,NM_201284.1 ,,, 33,817,5653 AA,AG,GG 9.1512,2.1788,6.7892 ,,, ,,, 55214443 883,12123 2203 4300 6503 SO:0001627 intron_variant Familial Cancer Database incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1 7p12 2014-09-17 2010-06-25 ENSG00000146648 ENSG00000146648 1956 3236 protein-coding gene gene with protein product erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian) 131550 epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog) ERBB NA 1505215 Standard NM_005228 NM_201282 NA Approved ERBB1 uc003tqk.3 P00533 OTTHUMG00000023661 ENST00000455089.1:c.424+3262G>A chr7.hg19:g.55214443G>A NA O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5 hg19 0.02 10.419184 GTCxCAT COVERED NOVEL EGFR-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000343056.1 2 14.739624 KEEP 0 1 28 59 2021 GG 1 1 0 + 8 60 293 0 0 17.425459 266 60 9597 422 ENST00000455089.1 0.029197 1 EGFR 1956 __UNKNOWN__ __UNKNOWN__ 7 55229255 55229255 __UNKNOWN__ Missense_Mutation SNP G G A rs2227983 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:55229255G>A ENST00000455089.1 + 12 1684 c.1427G>A c.(1426-1428)aGg>aAg p.R476K EGFR_ENST00000454757.2_Missense_Mutation_p.R468K|EGFR_ENST00000442591.1_Missense_Mutation_p.R521K|EGFR_ENST00000342916.3_Missense_Mutation_p.R521K|EGFR_ENST00000344576.2_Missense_Mutation_p.R521K|EGFR_ENST00000275493.2_Missense_Mutation_p.R521K P00533 EGFR_HUMAN epidermal growth factor receptor 521 NA activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412) apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435) actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294) CCGGAGCCCAGGGACTGCGTC 0.617 8 A, O, Mis glioma, NSCLC NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) G||| 1463 0.292133 0.0643 0.33 5008 , , NA 17432 0.5238 NA 0.2763 False NA ,,, NA NA NA 2504 0.3507 NA NA NA yes Dom yes Familial lung cancer 7 7p12.3-p12.1 1956 epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian) E, O 0 GRCh37 CM942312 EGFR M rs2227983 G LYS/ARG,LYS/ARG,LYS/ARG 391,4015 196.0+/-220.5 12,367,1824 111 114 113 1562,1562,1562 -5.8 0 7 dbSNP_98 113 2245,6355 380.6+/-339.7 317,1611,2372 yes missense,missense,missense EGFR NM_005228.3,NM_201282.1,NM_201284.1 26,26,26 329,1978,4196 AA,AG,GG 26.1047,8.8743,20.2676 benign,benign,benign 521/1211,521/629,521/706 55229255 2636,10370 2203 4300 6503 SO:0001583 missense Familial Cancer Database incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1 7p12 2014-09-17 2010-06-25 ENSG00000146648 ENSG00000146648 1956 3236 protein-coding gene gene with protein product erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian) 131550 epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog) ERBB NA 1505215 Standard NM_005228 NM_201282 NA Approved ERBB1 uc003tqk.3 P00533 OTTHUMG00000023661 ENST00000455089.1:c.1427G>A chr7.hg19:g.55229255G>A ENSP00000415559:p.Arg476Lys NA O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5 hg19 0.02 8.366874 CCAxGGA COVERED 652 0.29853479853479853 29 0.05894308943089431 108 0.2983425414364641 302 0.527972027972028 213 0.28100263852242746 G 1.353 -0.590998 0.03799 0.088743 0.261047 ENSG00000146648 ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450 T;T;T;T;T;T 0.28069 1.63;1.63;1.63;1.63;1.63;1.63 6.07 -5.79 0.02354 Growth factor, receptor (1); 1.067450 0.06989 N 0.821201 T 0.00012 0.0000 N 0.16368 0.405 0.80722 P 0.0 B;B;B;B 0.02656 0.0;0.0;0.0;0.0 B;B;B;B 0.04013 0.0;0.0;0.001;0.0 T 0.48043 -0.9069 9 0.10377 T 0.69 . 2.4933 0.04615 0.5094:0.1722:0.17:0.1484 rs2227983;rs3752650;rs11543848;rs12234746;rs17336807;rs11543848 476;521;521;521 Q504U8;P00533;P00533-3;P00533-4 .;EGFR_HUMAN;.;. K 476;521;391;521;521;521;468;315 ENSP00000415559:R476K;ENSP00000342376:R521K;ENSP00000345973:R521K;ENSP00000275493:R521K;ENSP00000410031:R521K;ENSP00000395243:R468K ENSP00000275493:R521K R + 2 0 EGFR 55196749 0.000000 0.05858 0.000000 0.03702 0.265000 0.26407 -0.793000 0.04589 -1.106000 0.03008 -0.165000 0.13383 AGG NOVEL EGFR-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000343056.1 0 14.747818 KEEP 0 0 0 49 1754 GG 1 1 0 + 9 60 322 0 0 20.273519 206 60 7886 320 ENST00000455089.1 0.04186 1 EGFR 1956 __UNKNOWN__ __UNKNOWN__ 7 55268916 55268916 __UNKNOWN__ Silent SNP C C T rs2293347|rs587778251 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:55268916C>T ENST00000455089.1 + 24 3104 c.2847C>T c.(2845-2847)gaC>gaT p.D949D EGFR_ENST00000454757.2_Silent_p.D941D|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000275493.2_Silent_p.D994D P00533 EGFR_HUMAN epidermal growth factor receptor 994 Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}. NA activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412) apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435) actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294) GTCCTACAGACTCCAACTTCT 0.512 8 A, O, Mis glioma, NSCLC NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) t||| 710 0.141773 0.0129 0.1542 5008 , , NA 18651 0.247 NA 0.1113 False NA ,,, NA NA NA 2504 0.2301 NA NA NA yes Dom yes Familial lung cancer 7 7p12.3-p12.1 1956 epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian) E, O 0 T 121,4285 90.6+/-129.3 1,119,2083 151 139 143 2982 3.8 1 7 dbSNP_100 143 795,7805 185.7+/-233.4 42,711,3547 no coding-synonymous EGFR NM_005228.3 43,830,5630 TT,TC,CC 9.2442,2.7463,7.0429 994/1211 55268916 916,12090 2203 4300 6503 SO:0001819 synonymous_variant Familial Cancer Database incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1 7p12 2014-09-17 2010-06-25 ENSG00000146648 ENSG00000146648 1956 3236 protein-coding gene gene with protein product erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian) 131550 epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog) ERBB NA 1505215 Standard NM_005228 NM_201282 NA Approved ERBB1 uc003tqk.3 P00533 OTTHUMG00000023661 ENST00000455089.1:c.2847C>T chr7.hg19:g.55268916C>T NA O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5 hg19 0.02 8.804546 AGAxTCC COVERED NOVEL EGFR-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000343056.1 5 12.340222 KEEP 0 0 0 41 1481 CC 1 1 0 + 9 60 333 0 0 21.246255 213 60 8064 329 ENST00000455089.1 0.040541 1 EGFR 1956 __UNKNOWN__ __UNKNOWN__ 7 55276094 55276094 __UNKNOWN__ 3'UTR SNP A A G rs2280653 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:55276094A>G ENST00000275493.2 + 0 6594 EGFR_ENST00000442591.1_Intron NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor NA NA activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412) apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435) actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294) AAGCCTGTCCATTGGCTGTTT 0.498 8 A, O, Mis glioma, NSCLC NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) N||| 1322 0.263978 0.3434 0.1945 5008 , , NA 21039 0.248 NA 0.17 False NA ,,, NA NA NA 2504 0.319 NA NA NA yes Dom yes Familial lung cancer 7 7p12.3-p12.1 1956 epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian) E, O 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Familial Cancer Database incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1 7p12 2014-09-17 2010-06-25 ENSG00000146648 ENSG00000146648 1956 3236 protein-coding gene gene with protein product erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian) 131550 epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog) ERBB NA 1505215 Standard NM_005228 NM_201282 NA Approved ERBB1 uc003tqk.3 P00533 OTTHUMG00000023661 ENST00000275493.2:c.*2784A>G chr7.hg19:g.55276094A>G NA O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5 hg19 CCDS5514.1 0.02 8.861731 TCCxTTG COVERED NOVEL EGFR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251456.2 0 2.578425 KEEP 0 2 73 34 1053 AA 0.999999 0.999999 0 + 8 60 283 0 0 17.470993 196 60 7240 280 ENST00000275493.2 0.039216 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 55779180 55779180 __UNKNOWN__ IGR SNP C C A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:55779180C>A NA NA FKBP9L (22186 upstream) : RNU6-1126P (77880 downstream) NA NA NA CATACGTGTCCTATGTTTTCA 0.448 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.55779180C>A NA hg19 0.02 4.0062 GTCxTAT COVERED NOVEL 0 1 3.345885 KEEP 12 1 31 22 792 CC 0.999879 0.999878 0 6 33 208 0 0 13.279614 116 60 4367 178 0.04918 0.999999 SEPT14 346288 __UNKNOWN__ __UNKNOWN__ 7 55861769 55861769 __UNKNOWN__ 3'UTR SNP A A G rs186177662 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:55861769A>G ENST00000388975.3 - 0 3252 NM_207366.2 NP_997249.2 Q6ZU15 SEP14_HUMAN septin 14 NA NA cell cycle (GO:0007049)|cell division (GO:0051301) septin complex (GO:0031105) GTP binding (GO:0005525) haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2) 23 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) GCCTTATAGTATCATATAATA 0.249 NA .||| 10 0.00199681 0.0 0.0 5008 , , NA 14211 0.0099 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK126048 CCDS5519.2 7p11.2 2013-01-21 ENSG00000154997 ENSG00000154997 346288 Septins 33280 protein-coding gene gene with protein product 612140 NA Standard NM_207366 NM_207366 NA Approved FLJ44060 uc003tqz.2 Q6ZU15 OTTHUMG00000129341 ENST00000388975.3:c.*1837T>C chr7.hg19:g.55861769A>G NA A6NCC2|B4DXD6 hg19 CCDS5519.2 0.02 11.209831 AGTxTCA COVERED NOVEL SEPT14-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251489.2 1 6.017515 KEEP 0 0 0 20 606 AA 0.999863 0.999863 0 - 9 60 313 0 0 18.527112 268 60 9357 305 ENST00000388975.3 0.032491 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 55947234 55947234 __UNKNOWN__ IGR SNP A A G rs17172501 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:55947234A>G NA NA SEPT14 (16752 upstream) : MRPS17 (7735 downstream) NA NA NA ACTTAACAACATGGGGGCCAG 0.483 NA A||| 489 0.0976438 0.0749 0.0533 5008 , , NA 14649 0.2411 NA 0.0378 False NA ,,, NA NA NA 2504 0.0736 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.55947234A>G NA hg19 0.02 4.282647 AACxTGG COVERED NOVEL 0 2 3.610527 KEEP 0 0 0 12 360 AA 0.993634 0.993633 0 5 60 179 0 0 10.988201 131 60 4801 159 0.036765 1 MRPS17 51373 __UNKNOWN__ __UNKNOWN__ 7 56009863 56009863 __UNKNOWN__ Intron SNP G G T rs6593291 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:56009863G>T ENST00000426595.1 + 7 1261 ZNF713_ENST00000429591.2_3'UTR Q9Y2R5 RT17_HUMAN mitochondrial ribosomal protein S17 NA NA translation (GO:0006412) mitochondrial small ribosomal subunit (GO:0005763) rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735) kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 8 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) CCATGTTGAGGGTGGGAATCA 0.443 NA G||| 862 0.172125 0.0446 0.1628 5008 , , NA 16419 0.3512 NA 0.2028 False NA ,,, NA NA NA 2504 0.135 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB051352 CCDS5520.1 7p11-q11.21 2012-09-13 ENSG00000239789 ENSG00000239789 51373 Mitochondrial ribosomal proteins / small subunits 14047 protein-coding gene gene with protein product 28S ribosomal protein S17, mitochondrial 611980 NA 11279123 Standard NM_015969 NM_015969 NA Approved HSPC011, RPMS17, MRP-S17 uc003trd.3 Q9Y2R5 OTTHUMG00000023153 ENST00000426595.1:c.269-11009G>T chr7.hg19:g.56009863G>T NA Q86X15 hg19 0.02 2.054739 GAGxGTG COVERED NOVEL MRPS17-001 PUTATIVE basic|appris_principal|readthrough_transcript|exp_conf protein_coding NA protein_coding OTTHUMT00000363286.1 1 3.009459 KEEP 0 0 0 10 340 GG 0.992708 0.992627 0 + 11 60 414 0 0 31.865813 84 60 3032 125 ENST00000426595.1 0.115789 0.999919 MRPS17 51373 __UNKNOWN__ __UNKNOWN__ 7 56022544 56022544 __UNKNOWN__ Intron SNP T T C rs59849749 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:56022544T>C ENST00000426595.1 + 8 1401 MRPS17_ENST00000285298.4_Intron Q9Y2R5 RT17_HUMAN mitochondrial ribosomal protein S17 NA NA translation (GO:0006412) mitochondrial small ribosomal subunit (GO:0005763) rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735) kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 8 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) ATATTACATATTACATTACCA 0.383 NA T||| 862 0.172125 0.0446 0.1628 5008 , , NA 20562 0.3512 NA 0.2028 False NA ,,, NA NA NA 2504 0.135 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB051352 CCDS5520.1 7p11-q11.21 2012-09-13 ENSG00000239789 ENSG00000239789 51373 Mitochondrial ribosomal proteins / small subunits 14047 protein-coding gene gene with protein product 28S ribosomal protein S17, mitochondrial 611980 NA 11279123 Standard NM_015969 NM_015969 NA Approved HSPC011, RPMS17, MRP-S17 uc003trd.3 Q9Y2R5 OTTHUMG00000023153 ENST00000426595.1:c.409-58T>C chr7.hg19:g.56022544T>C NA Q86X15 hg19 0.02 6.137994 ATAxTAC COVERED NOVEL MRPS17-001 PUTATIVE basic|appris_principal|readthrough_transcript|exp_conf protein_coding NA protein_coding OTTHUMT00000363286.1 2 6.015942 KEEP 0 0 0 20 584 TT 0.999863 0.999863 0 + 6 60 216 0 0 13.136574 168 60 6124 209 ENST00000426595.1 0.034483 1 GBAS 2631 __UNKNOWN__ __UNKNOWN__ 7 56047572 56047572 __UNKNOWN__ Intron SNP C C T rs60160896 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:56047572C>T ENST00000446778.1 + 3 261 GBAS_ENST00000487370.1_3'UTR|GBAS_ENST00000322090.3_Intron NM_001202469.1 NP_001189398.1 O75323 NIPS2_HUMAN glioblastoma amplified sequence NA NA ATP biosynthetic process (GO:0006754)|negative regulation of ATP citrate synthase activity (GO:2000984)|oxidative phosphorylation (GO:0006119) integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739) breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2) 5 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) CTTACAATCTCCATTCAGGTA 0.498 NA C||| 1384 0.276358 0.1664 0.3098 5008 , , NA 17730 0.3641 NA 0.3509 False NA ,,, NA NA NA 2504 0.2342 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF029786 CCDS5521.1, CCDS56488.1 7p12 2014-03-11 ENSG00000146729 ENSG00000146729 2631 4179 protein-coding gene gene with protein product 603004 NA 9615231, 9661659, 20888800 Standard NM_001483 NM_001483 NA Approved NIPSNAP2 uc003tre.2 O75323 OTTHUMG00000022932 ENST00000446778.1:c.233-1594C>T chr7.hg19:g.56047572C>T NA C9IYJ3|O43801|Q53X96 hg19 CCDS56488.1 0.02 6.3652 TCTxCAT COVERED NOVEL GBAS-002 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000343274.1 1 5.71873 KEEP 0 0 0 19 676 CC 0.99986 0.99986 0 + 6 60 223 0 0 13.881502 165 60 5979 217 ENST00000446778.1 0.035088 1 PHKG1 5260 __UNKNOWN__ __UNKNOWN__ 7 56151526 56151526 __UNKNOWN__ Intron SNP G G A rs2242509 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:56151526G>A ENST00000297373.2 - 5 512 PHKG1_ENST00000537360.1_Intron|PHKG1_ENST00000452681.2_Intron NM_001258460.1|NM_006213.4 NP_001245389.1|NP_006204.1 Q16816 PHKG1_HUMAN phosphorylase kinase, gamma 1 (muscle) NA NA carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964) ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|tau-protein kinase activity (GO:0050321) endometrium(1)|large_intestine(1)|lung(5) 7 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) GCCACTCTCCGTGGAGAACCA 0.582 NA G||| 1114 0.222444 0.1778 0.1787 5008 , , NA 18051 0.3968 NA 0.2078 False NA ,,, NA NA NA 2504 0.1493 NA NA NA Melanoma(184;580 2064 5329 24177 35303) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X80590 CCDS5525.1, CCDS59057.1 7p11.2 2009-07-10 ENSG00000164776 ENSG00000164776 5260 2.7.11.19 8930 protein-coding gene gene with protein product 172470 PHKG NA 8530014 Standard NM_006213 NM_001258459 NA Approved uc011kdb.2 Q16816 OTTHUMG00000023869 ENST00000297373.2:c.318-118C>T chr7.hg19:g.56151526G>A NA B7Z1D0|F5H2S1|Q75LP5 hg19 CCDS5525.1 0.02 6.883566 TCCxTGG COVERED NOVEL PHKG1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251587.1 1 12.038627 KEEP 0 0 0 40 1400 GG 1 1 0 - 8 60 303 0 0 19.928491 171 60 6270 262 ENST00000297373.2 0.044693 1 PHKG1 5260 __UNKNOWN__ __UNKNOWN__ 7 56155219 56155219 __UNKNOWN__ Intron SNP C C T rs6945795 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:56155219C>T ENST00000297373.2 - 3 457 PHKG1_ENST00000537360.1_Intron|PHKG1_ENST00000452681.2_Intron|PHKG1_ENST00000489604.1_Intron NM_001258460.1|NM_006213.4 NP_001245389.1|NP_006204.1 Q16816 PHKG1_HUMAN phosphorylase kinase, gamma 1 (muscle) NA NA carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964) ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|tau-protein kinase activity (GO:0050321) endometrium(1)|large_intestine(1)|lung(5) 7 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) TGGGGCCACACTCCCTGGCTT 0.642 NA C||| 2383 0.475839 0.3654 0.4524 5008 , , NA 13628 0.6627 NA 0.4861 False NA ,,, NA NA NA 2504 0.4387 NA NA NA Melanoma(184;580 2064 5329 24177 35303) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X80590 CCDS5525.1, CCDS59057.1 7p11.2 2009-07-10 ENSG00000164776 ENSG00000164776 5260 2.7.11.19 8930 protein-coding gene gene with protein product 172470 PHKG NA 8530014 Standard NM_006213 NM_001258459 NA Approved uc011kdb.2 Q16816 OTTHUMG00000023869 ENST00000297373.2:c.262+71G>A chr7.hg19:g.56155219C>T NA B7Z1D0|F5H2S1|Q75LP5 hg19 CCDS5525.1 0.02 1.760084 ACAxTCC COVERED NOVEL PHKG1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251587.1 0 2.407149 KEEP 0 0 0 8 252 CC 0.99257 0.992062 0 - 5 60 180 0 0 12.18302 78 60 2867 93 ENST00000297373.2 0.060241 0.999487 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 56295412 56295412 __UNKNOWN__ IGR SNP A A G rs1640558 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:56295412A>G NA NA NUPR1L (111319 upstream) : AC073136.1 (42063 downstream) NA NA NA TATAAATCACAGATTGCACTG 0.328 NA G||| 2073 0.413938 0.5696 0.2363 5008 , , NA 18782 0.6111 NA 0.2058 False NA ,,, NA NA NA 2504 0.3405 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.56295412A>G NA hg19 0.02 1.772062 CACxGAT COVERED NOVEL 0 0 3.009232 KEEP 0 0 0 10 316 AA 0.992708 0.992603 0 5 60 175 0 0 11.429815 88 60 3296 124 0.053763 0.999895 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 56296143 56296143 __UNKNOWN__ IGR SNP T T C rs1722284 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:56296143T>C NA NA NUPR1L (112050 upstream) : AC073136.1 (41332 downstream) NA NA NA TTTGACACACTGTTAATTTGC 0.388 NA T||| 2072 0.413738 0.5696 0.2349 5008 , , NA 19016 0.6111 NA 0.2058 False NA ,,, NA NA NA 2504 0.3405 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.56296143T>C NA hg19 0.02 10.879991 CACxGTT COVERED NOVEL 0 3 6.617003 KEEP 0 0 0 22 644 TT 0.999879 0.999879 0 12 60 423 0 0 26.77991 255 60 9488 314 0.044944 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 56296553 56296553 __UNKNOWN__ IGR SNP G G T rs10235373 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:56296553G>T NA NA NUPR1L (112460 upstream) : AC073136.1 (40922 downstream) NA NA NA ACAGCTTGGTGGTTCTGACTA 0.502 NA T||| 2072 0.413738 0.5696 0.2349 5008 , , NA 21593 0.6111 NA 0.2058 False NA ,,, NA NA NA 2504 0.3405 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.56296553G>T NA hg19 0.02 4.320795 GGTxGTT COVERED NOVEL 0 2 3.611757 KEEP 0 0 0 12 420 GG 0.993634 0.993634 0 8 60 276 0 0 18.099634 134 60 5029 185 0.056338 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 56296598 56296598 __UNKNOWN__ IGR SNP A A G rs1640564 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:56296598A>G NA NA NUPR1L (112505 upstream) : AC073136.1 (40877 downstream) NA NA NA TGAGGTGTCTAATGGAGATAT 0.493 NA G||| 2072 0.413738 0.5696 0.2349 5008 , , NA 19994 0.6111 NA 0.2058 False NA ,,, NA NA NA 2504 0.3405 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.56296598A>G NA hg19 0.02 7.623598 TCTxATG COVERED NOVEL 0 1 6.920318 KEEP 0 0 0 23 712 AA 0.999892 0.999892 0 9 60 361 0 0 25.252919 155 60 5496 229 0.054878 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 56296728 56296728 __UNKNOWN__ IGR SNP A A G rs1640565 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:56296728A>G NA NA NUPR1L (112635 upstream) : AC073136.1 (40747 downstream) NA NA NA CATCATTATCATGAGCGATCA 0.473 NA G||| 2072 0.413738 0.5696 0.2349 5008 , , NA 21573 0.6111 NA 0.2058 False NA ,,, NA NA NA 2504 0.3405 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.56296728A>G NA hg19 0.02 1.99487 ATCxTGA COVERED NOVEL 0 0 2.406376 KEEP 0 0 0 8 231 AA 0.99257 0.991687 0 7 60 243 0 0 17.375114 72 60 2613 98 0.088608 0.99911 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 56296924 56296924 __UNKNOWN__ IGR SNP C C T rs1622932 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:56296924C>T NA NA NUPR1L (112831 upstream) : AC073136.1 (40551 downstream) NA NA NA GTAATCTGCACATTTGGCCAT 0.398 NA T||| 2072 0.413738 0.5696 0.2349 5008 , , NA 19517 0.6111 NA 0.2058 False NA ,,, NA NA NA 2504 0.3405 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.56296924C>T NA hg19 0.02 2.027695 GCAxATT COVERED NOVEL 0 1 3.009914 KEEP 0 0 0 10 360 CC 0.992708 0.992656 0 9 60 339 0 0 25.139863 89 60 3352 129 0.091837 0.999948 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 56297387 56297387 __UNKNOWN__ IGR SNP C C T rs1640567 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:56297387C>T NA NA NUPR1L (113294 upstream) : AC073136.1 (40088 downstream) NA NA NA CTGGCCTTTACAGGAGGGCAA 0.577 NA T||| 2072 0.413738 0.5703 0.2349 5008 , , NA 17950 0.6111 NA 0.2058 False NA ,,, NA NA NA 2504 0.3395 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.56297387C>T NA hg19 0.02 1.760072 TTAxAGG COVERED NOVEL 0 1 4.213914 KEEP 0 0 0 14 510 CC 0.995343 0.994833 0 4 60 144 0 0 9.348382 79 60 2976 110 0.048193 0.999487 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 56297446 56297446 __UNKNOWN__ IGR SNP C C T rs1640568 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:56297446C>T NA NA NUPR1L (113353 upstream) : AC073136.1 (40029 downstream) NA NA NA CGGCCAGCTGCCCTCGCCACC 0.637 NA T||| 2072 0.413738 0.5703 0.2349 5008 , , NA 14540 0.6111 NA 0.2058 False NA ,,, NA NA NA 2504 0.3395 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.56297446C>T NA hg19 0.02 2.161389 CTGxCCT COVERED NOVEL 0 3 3.912285 KEEP 0 0 0 13 447 CC 0.994391 0.982401 0 5 60 167 0 0 11.61515 55 60 2033 84 0.083333 0.987943 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 57081412 57081412 __UNKNOWN__ IGR SNP C C T rs72598820 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:57081412C>T NA NA RN7SL816P (48198 upstream) : ZNF479 (105908 downstream) NA NA NA CCCAGGGCTCCGACTCCTTCA 0.607 NA c||| 1090 0.217652 0.211 0.1945 5008 , , NA 8128 0.2639 NA 0.2396 False NA ,,, NA NA NA 2504 0.1728 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.57081412C>T NA hg19 0.02 1.936786 CTCxGAC COVERED NOVEL 0 1 4.814499 KEEP 30 0 0 16 518 CC 0.99254 0.99248 0 7 49 260 0 0 18.423678 90 50 3040 176 0.072165 0.99994 ZNF479 90827 __UNKNOWN__ __UNKNOWN__ 7 57188016 57188016 __UNKNOWN__ Missense_Mutation SNP A A G rs78588121 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:57188016A>G ENST00000331162.4 - 5 1376 c.1106T>C c.(1105-1107)aTg>aCg p.M369T NM_033273.1 NP_150376.1 Q96JC4 ZN479_HUMAN zinc finger protein 479 369 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) p.M369T(1) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 84 GBM - Glioblastoma multiforme(1;9.18e-12) CCTATGTCTCATAAGGTTCGA 0.428 NA .||| 1611 0.321685 0.0915 0.379 5008 , , NA 21876 0.5427 NA 0.2913 False NA ,,, NA NA NA 2504 0.3957 NA NA NA NA 1 Substitution - Missense(1) stomach(1) G THR/MET 542,3632 35,472,1580 44 45 45 1106 -0.4 0 7 dbSNP_130 45 2798,5670 493,1812,1929 no missense ZNF479 NM_033273.1 81 528,2284,3509 GG,GA,AA 33.042,12.9851,26.4199 benign 369/525 57188016 3340,9302 2087 4234 6321 SO:0001583 missense AF277624 CCDS43590.1 7p11.2 2013-01-08 ENSG00000185177 ENSG00000185177 90827 Zinc fingers, C2H2-type, - 23258 protein-coding gene gene with protein product NA 11410164 Standard XM_291202 NM_033273 NA Approved KR19 uc010kzo.3 Q96JC4 OTTHUMG00000156682 ENST00000331162.4:c.1106T>C chr7.hg19:g.57188016A>G ENSP00000333776:p.Met369Thr NA hg19 CCDS43590.1 0.02 6.633726 CTCxTAA COVERED 728 0.3333333333333333 45 0.09146341463414634 116 0.32044198895027626 340 0.5944055944055944 227 0.2994722955145119 N 0.001 -3.605008 0.00007 0.129851 0.33042 ENSG00000185177 ENST00000331162 T 0.06768 3.26 0.946 -0.375 0.12509 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1); . . . . T 0.00012 0.0000 N 0.03194 -0.395 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.45862 -0.9232 8 0.02654 T 1 . 2.1961 0.03911 0.3833:0.0:0.3777:0.239 . 369 Q96JC4 ZN479_HUMAN T 369 ENSP00000333776:M369T ENSP00000333776:M369T M - 2 0 ZNF479 57191958 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -1.761000 0.01805 -2.973000 0.00285 -3.053000 0.00069 ATG NOVEL ZNF479-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000345302.1 5 7.22171 KEEP 0 0 0 24 753 AA 0.999909 0.999909 0 - 13 49 433 0 0 29.856859 150 60 5588 232 ENST00000331162.4 0.079755 1 ZNF479 90827 __UNKNOWN__ __UNKNOWN__ 7 57188718 57188718 __UNKNOWN__ Missense_Mutation SNP T T C rs62464802 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:57188718T>C ENST00000331162.4 - 5 674 c.404A>G c.(403-405)tAt>tGt p.Y135C NM_033273.1 NP_150376.1 Q96JC4 ZN479_HUMAN zinc finger protein 479 135 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 84 GBM - Glioblastoma multiforme(1;9.18e-12) GTGCACCTCATATTCACCCAC 0.328 NA .||| 1641 0.327676 0.115 0.379 5008 , , NA 17489 0.5427 NA 0.2913 False NA ,,, NA NA NA 2504 0.3947 NA NA NA NA 0 C CYS/TYR 550,3188 35,480,1354 124 113 117 404 -1.1 0 7 dbSNP_129 117 2751,5495 487,1777,1859 yes missense ZNF479 NM_033273.1 194 522,2257,3213 CC,CT,TT 33.3616,14.7138,27.5451 benign 135/525 57188718 3301,8683 1869 4123 5992 SO:0001583 missense AF277624 CCDS43590.1 7p11.2 2013-01-08 ENSG00000185177 ENSG00000185177 90827 Zinc fingers, C2H2-type, - 23258 protein-coding gene gene with protein product NA 11410164 Standard XM_291202 NM_033273 NA Approved KR19 uc010kzo.3 Q96JC4 OTTHUMG00000156682 ENST00000331162.4:c.404A>G chr7.hg19:g.57188718T>C ENSP00000333776:p.Tyr135Cys NA hg19 CCDS43590.1 0.02 16.926317 TCAxATT COVERED 722 0.3305860805860806 43 0.08739837398373984 115 0.31767955801104975 339 0.5926573426573427 225 0.29683377308707126 N 0 -2.671338 0.00104 0.147138 0.333616 ENSG00000185177 ENST00000331162 T 0.06449 3.3 1.6 -1.1 0.09872 . . . . . T 0.00012 0.0000 N 0.00182 -1.905 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.41016 -0.9532 8 0.02654 T 1 . 0.203 0.00147 0.2087:0.239:0.2071:0.3452 rs62464802 135 Q96JC4 ZN479_HUMAN C 135 ENSP00000333776:Y135C ENSP00000333776:Y135C Y - 2 0 ZNF479 57192660 0.000000 0.05858 0.000000 0.03702 0.002000 0.02628 -0.701000 0.05075 -0.649000 0.05430 -0.498000 0.04607 TAT NOVEL ZNF479-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000345302.1 1 10.967946 KEEP 1 1 39 50 1545 TT 1 1 0 - 42 60 1565 0 0 118.962696 344 60 12619 531 ENST00000331162.4 0.108808 1 ZNF479 90827 __UNKNOWN__ __UNKNOWN__ 7 57196724 57196724 __UNKNOWN__ Intron SNP A A T rs57238231 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:57196724A>T ENST00000331162.4 - 3 310 NM_033273.1 NP_150376.1 Q96JC4 ZN479_HUMAN zinc finger protein 479 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 84 GBM - Glioblastoma multiforme(1;9.18e-12) CGAGACTTGCAGAAAACATTC 0.378 NA a||| 1616 0.322684 0.0915 0.379 5008 , , NA 20038 0.5446 NA 0.2932 False NA ,,, NA NA NA 2504 0.3967 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF277624 CCDS43590.1 7p11.2 2013-01-08 ENSG00000185177 ENSG00000185177 90827 Zinc fingers, C2H2-type, - 23258 protein-coding gene gene with protein product NA 11410164 Standard XM_291202 NM_033273 NA Approved KR19 uc010kzo.3 Q96JC4 OTTHUMG00000156682 ENST00000331162.4:c.40-2299T>A chr7.hg19:g.57196724A>T NA hg19 CCDS43590.1 0.02 2.352285 TGCxGAA COVERED NOVEL ZNF479-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000345302.1 0 3.008944 KEEP 0 0 0 10 311 AA 0.992708 0.982326 0 - 5 60 196 0 0 14.474791 56 60 2094 77 ENST00000331162.4 0.081967 0.989542 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 57215296 57215296 __UNKNOWN__ IGR SNP C C T rs9791456 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:57215296C>T NA NA ZNF479 (7725 upstream) : RP11-1217F2.15 (73579 downstream) NA NA NA GGTATAATTACGCATAGTCAT 0.333 NA t||| 1678 0.335064 0.1475 0.379 5008 , , NA 15041 0.5337 NA 0.2972 False NA ,,, NA NA NA 2504 0.3916 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.57215296C>T NA hg19 0.02 4.563187 TTAxGCA COVERED NOVEL 0 0 5.115839 KEEP 0 0 0 17 573 CC 0.999366 0.999348 0 7 60 259 0 0 18.104264 97 60 3310 142 0.067308 0.999981 ZNF716 441234 __UNKNOWN__ __UNKNOWN__ 7 57529392 57529392 __UNKNOWN__ Missense_Mutation SNP A A C rs13235676 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:57529392A>C ENST00000420713.1 + 4 1337 c.1225A>C c.(1225-1227)Aaa>Caa p.K409Q NM_001159279.1 NP_001152751.1 A6NP11 ZN716_HUMAN zinc finger protein 716 409 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(1)|kidney(1)|lung(20)|ovary(2) 24 GAAACCCTACAAATGTGAAGA 0.403 NA a||| 2109 0.421126 0.3215 0.4798 5008 , , NA 20228 0.5397 NA 0.3797 False NA ,,, NA NA NA 2504 0.4346 NA NA NA NA 0 A GLN/LYS 479,905 82,315,295 27 27 27 1225 0.2 0.2 7 dbSNP_121 27 1251,1931 247,757,587 no missense ZNF716 NM_001159279.1 53 329,1072,882 CC,CA,AA 39.3149,34.6098,37.8887 benign 409/496 57529392 1730,2836 692 1591 2283 SO:0001583 missense AK131575 CCDS55112.1 7p11.1 2013-01-08 ENSG00000182111 ENSG00000182111 441234 Zinc fingers, C2H2-type, - 32458 protein-coding gene gene with protein product NA Standard NM_001159279 NM_001159279 NA Approved FLJ46189 uc011kdi.1 A6NP11 OTTHUMG00000156689 ENST00000420713.1:c.1225A>C chr7.hg19:g.57529392A>C ENSP00000394248:p.Lys409Gln NA hg19 CCDS55112.1 0.02 4.711389 TACxAAT COVERED 906 0.41483516483516486 162 0.32926829268292684 158 0.43646408839779005 307 0.5367132867132867 279 0.36807387862796836 A 7.864 0.726705 0.15439 0.346098 0.393149 ENSG00000182111 ENST00000420713;ENST00000418732 T 0.18810 2.19 0.195 0.195 0.15151 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1); . . . . T 0.00012 0.0000 L 0.55743 1.74 0.52501 P 4.4000000000044004E-5 B 0.33299 0.407 B 0.30716 0.119 T 0.43750 -0.9372 8 0.49607 T 0.09 . 4.8229 0.13400 0.9998:0.0:2.0E-4:0.0 rs13235676 397 A6NP11 ZN716_HUMAN Q 409;397 ENSP00000394248:K409Q ENSP00000387687:K397Q K + 1 0 ZNF716 57533334 0.000000 0.05858 0.190000 0.23270 0.191000 0.23601 -2.138000 0.01303 0.257000 0.21650 0.254000 0.18369 AAA NOVEL ZNF716-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000345309.1 4 6.053462 KEEP 0 1 37 33 1018 AA 0.999998 0.999998 0 + 5 60 196 0 0 12.558667 139 60 5055 212 ENST00000420713.1 0.034722 1 ZNF716 441234 __UNKNOWN__ __UNKNOWN__ 7 57531922 57531922 __UNKNOWN__ 3'UTR SNP C C T rs4870666 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:57531922C>T ENST00000420713.1 + 0 3867 NM_001159279.1 NP_001152751.1 A6NP11 ZN716_HUMAN zinc finger protein 716 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(1)|kidney(1)|lung(20)|ovary(2) 24 ATAAGGCGAGCGTTCAGAGTA 0.299 NA .||| 2109 0.421126 0.3215 0.4798 5008 , , NA 17244 0.5397 NA 0.3797 False NA ,,, NA NA NA 2504 0.4346 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK131575 CCDS55112.1 7p11.1 2013-01-08 ENSG00000182111 ENSG00000182111 441234 Zinc fingers, C2H2-type, - 32458 protein-coding gene gene with protein product NA Standard NM_001159279 NM_001159279 NA Approved FLJ46189 uc011kdi.1 A6NP11 OTTHUMG00000156689 ENST00000420713.1:c.*2267C>T chr7.hg19:g.57531922C>T NA hg19 CCDS55112.1 0.02 4.306931 GAGxGTT COVERED NOVEL ZNF716-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000345309.1 0 4.213361 KEEP 0 0 0 14 486 CC 0.995343 0.995342 0 + 8 60 274 0 0 18.461429 114 60 3943 154 ENST00000420713.1 0.065574 0.999999 ZNF716 441234 __UNKNOWN__ __UNKNOWN__ 7 57532512 57532512 __UNKNOWN__ 3'UTR SNP G G A rs11765227 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:57532512G>A ENST00000420713.1 + 0 4457 NM_001159279.1 NP_001152751.1 A6NP11 ZN716_HUMAN zinc finger protein 716 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(1)|kidney(1)|lung(20)|ovary(2) 24 GAAGAATTTTGTTCCCATAGG 0.378 NA .||| 2110 0.421326 0.3215 0.4798 5008 , , NA 17871 0.5397 NA 0.3797 False NA ,,, NA NA NA 2504 0.4356 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK131575 CCDS55112.1 7p11.1 2013-01-08 ENSG00000182111 ENSG00000182111 441234 Zinc fingers, C2H2-type, - 32458 protein-coding gene gene with protein product NA Standard NM_001159279 NM_001159279 NA Approved FLJ46189 uc011kdi.1 A6NP11 OTTHUMG00000156689 ENST00000420713.1:c.*2857G>A chr7.hg19:g.57532512G>A NA hg19 CCDS55112.1 0.02 2.164674 TTTxTTC COVERED NOVEL ZNF716-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000345309.1 3 3.912597 KEEP 0 0 0 13 444 GG 0.994391 0.99157 0 + 6 60 220 0 0 15.933399 65 60 2529 99 ENST00000420713.1 0.084507 0.997163 RP11-368M16.3 0 __UNKNOWN__ __UNKNOWN__ 7 57699351 57699351 __UNKNOWN__ RNA SNP C C A rs200343347 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:57699351C>A ENST00000605139.1 - 0 416 NA NA NA gacctcccaactttatccccc 0.532 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000605139.1: chr7.hg19:g.57699351C>A NA hg19 0.02 4.619468 CAAxTTT COVERED NOVEL RP11-368M16.3-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000468775.1 2 6.154655 KEEP 22 1 33 32 1130 CC 0.999988 0.999987 0 - 5 27 179 0 0 12.40269 67 60 2544 218 ENST00000605139.1 0.069444 0.999999 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 61968842 61968842 __UNKNOWN__ IGR SNP T T G rs2167866|rs370856322 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:61968842T>G NA NA None (None upstream) : RNU6-417P (502998 downstream) NA NA NA tatcttcaaataaaaaccaga 0.363 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.61968842T>G NA hg19 0.02 23.755007 AAAxAAA COVERED NOVEL 0 35 17.066392 KEEP 97 9 325 170 5217 TT 1 1 0 31 60 1113 0 0 75.855318 466 60 17148 927 0.062374 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 61968843 61968843 __UNKNOWN__ IGR SNP A A G rs10156099 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:61968843A>G NA NA None (None upstream) : RNU6-417P (502997 downstream) NA NA NA atcttcaaataaaaaccagac 0.363 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.61968843A>G NA hg19 0.02 23.511351 AATxAAA COVERED NOVEL 0 34 25.518923 KEEP 96 7 247 171 5296 AA 1 1 0 21 60 797 1 0 51.843614 482 60 17520 925 0.04175 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 61969268 61969268 __UNKNOWN__ IGR SNP G G C rs71204446|rs4275109 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:61969268G>C NA NA None (None upstream) : RNU6-417P (502572 downstream) NA NA NA tcttagagcagtttagaaaca 0.378 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.61969268G>C NA hg19 0.02 36.044512 GCAxTTT COVERED NOVEL 0 46 76.924563 KEEP 10 2 73 281 10114 GG 1 1 0 22 60 826 0 0 49.473915 769 60 29104 1389 0.027813 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 61969446 61969446 __UNKNOWN__ IGR SNP A A C rs7457677 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:61969446A>C NA NA None (None upstream) : RNU6-417P (502394 downstream) NA NA NA gcagatttgaaacactcttgc 0.378 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.61969446A>C NA hg19 0.02 39.544626 TGAxACA COVERED NOVEL 0 34 79.866172 KEEP 5 1 33 277 8700 AA 1 1 0 32 60 1254 1 0 82.532548 757 60 27056 1358 0.040558 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 61969488 61969488 __UNKNOWN__ IGR SNP T T C rs2167844|rs372527282 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:61969488T>C NA NA None (None upstream) : RNU6-417P (502352 downstream) NA NA NA tttcaagcgatttgaggacaa 0.393 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.61969488T>C NA hg19 0.02 36.911158 CGAxTTG COVERED NOVEL 0 53 53.045993 KEEP 3 6 214 251 7992 TT 1 1 0 25 60 947 1 0 58.305719 778 60 28137 1327 0.031133 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 61969572 61969572 __UNKNOWN__ IGR SNP T T C rs71296928|rs4295544 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:61969572T>C NA NA None (None upstream) : RNU6-417P (502268 downstream) NA NA NA gatgtgtgcgttcaactcaca 0.388 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.61969572T>C NA hg19 0.02 24.562153 GCGxTCA COVERED NOVEL 0 41 37.637118 KEEP 31 4 143 175 5613 TT 1 1 0 14 60 539 0 0 32.746328 495 60 17731 958 0.027505 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 61969590 61969590 __UNKNOWN__ IGR SNP A A C rs4416727 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:61969590A>C NA NA None (None upstream) : RNU6-417P (502250 downstream) NA NA NA acagagtttaacctttctttt 0.393 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.61969590A>C NA hg19 0.02 19.369534 TTAxCCT COVERED NOVEL 0 26 27.818371 KEEP 39 4 136 140 4360 AA 1 1 0 12 60 436 0 0 25.676028 408 60 14666 816 0.028571 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 61970280 61970280 __UNKNOWN__ IGR SNP T T C rs4358676 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:61970280T>C NA NA None (None upstream) : RNU6-417P (501560 downstream) NA NA NA acctttcttttcatagaggag 0.368 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.61970280T>C NA hg19 0.02 11.314157 TTTxCAT COVERED NOVEL 0 17 11.993681 KEEP 49 5 175 101 3034 TT 1 1 0 16 49 602 0 0 42.524131 217 60 7678 491 0.06867 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 61970544 61970544 __UNKNOWN__ IGR SNP T T G rs4476887 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:61970544T>G NA NA None (None upstream) : RNU6-417P (501296 downstream) NA NA NA tatcttcaaataaaaaccaga 0.363 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.61970544T>G NA hg19 0.02 4.58258 AAAxAAA COVERED NOVEL 0 12 5.685264 KEEP 90 2 69 43 1330 TT 0.993634 0.993633 0 8 40 298 0 0 20.516263 124 47 4346 261 0.060606 1 RP11-340I6.7 0 __UNKNOWN__ __UNKNOWN__ 7 63353662 63353662 __UNKNOWN__ lincRNA SNP C C T rs10237437 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:63353662C>T ENST00000587736.1 - 0 568 NA NA NA ACTCCAGCCACGACTAAAAGA 0.547 NA T||| 1277 0.254992 0.4183 0.2579 5008 , , NA 16126 0.3085 NA 0.0785 False NA ,,, NA NA NA 2504 0.1585 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000587736.1: chr7.hg19:g.63353662C>T NA hg19 0.02 4.613934 CCAxGAC COVERED NOVEL RP11-340I6.7-003 KNOWN basic lincRNA NA lincRNA OTTHUMT00000447757.1 0 3.911467 KEEP 0 0 0 13 427 CC 0.994391 0.99439 0 - 5 60 193 0 0 12.643831 116 60 4217 176 ENST00000587736.1 0.041322 0.999999 RP11-340I6.7 0 __UNKNOWN__ __UNKNOWN__ 7 63354086 63354086 __UNKNOWN__ lincRNA SNP A A G rs141131653 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:63354086A>G ENST00000587736.1 - 0 566 NA NA NA AAGAAGCTCAAGTGATAACTC 0.428 NA A||| 281 0.0561102 0.0023 0.1081 5008 , , NA 21144 0.1865 NA 0.001 False NA ,,, NA NA NA 2504 0.0143 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000587736.1: chr7.hg19:g.63354086A>G NA hg19 0.02 2.376643 TCAxGTG UNCOVERED NOVEL RP11-340I6.7-003 KNOWN basic lincRNA NA lincRNA OTTHUMT00000447757.1 2 4.815051 KEEP 42 0 0 16 521 AA 0 0 0 - 4 40 154 0 0 10.390952 77 40 2792 135 ENST00000587736.1 0.049383 0.999317 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 63539082 63539082 __UNKNOWN__ IGR SNP A A T rs6962663 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:63539082A>T NA NA ZNF727 (155 upstream) : GUSBP6 (41726 downstream) NA NA NA CAACCCTTACAAGCCACAAGA 0.423 NA t||| 3148 0.628594 0.562 0.7406 5008 , , NA 18595 0.6091 NA 0.668 False NA ,,, NA NA NA 2504 0.6186 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.63539082A>T NA hg19 0.02 3.848108 TACxAGC COVERED NOVEL 0 2 5.264293 KEEP 0 2 52 36 1113 AA 1 1 0 5 60 180 0 0 11.022425 135 60 4963 228 0.035714 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 63575149 63575149 __UNKNOWN__ IGR SNP T T C rs7804572 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:63575149T>C NA NA ZNF727 (36222 upstream) : GUSBP6 (5659 downstream) NA NA NA AGTGTCCCGCTGTGGGCCTGG 0.642 NA c||| 2405 0.480232 0.5068 0.4856 5008 , , NA 19238 0.6528 NA 0.3499 False NA ,,, NA NA NA 2504 0.3967 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.63575149T>C NA hg19 0.02 -0.412344 CGCxGTG COVERED NOVEL 0 0 3.61076 KEEP 0 0 0 12 369 TT 0.993634 0.935746 0 3 60 98 0 0 6.388988 44 60 1667 78 0.06383 0.941741 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 63644644 63644644 __UNKNOWN__ IGR SNP A A G rs10233026 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:63644644A>G NA NA GUSBP6 (33545 upstream) : ZNF679 (44207 downstream) NA NA NA CATGCCCAGGACACTTTGGTA 0.637 NA .||| 2631 0.525359 0.6021 0.5331 5008 , , NA 16768 0.6488 NA 0.4135 False NA ,,, NA NA NA 2504 0.4039 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.63644644A>G NA hg19 0.02 1.899794 AGGxCAC COVERED NOVEL 0 0 3.309949 KEEP 0 0 0 11 341 AA 0.993072 0.992909 0 6 60 192 0 0 12.826262 84 60 2875 127 0.066667 0.999835 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 63667466 63667466 __UNKNOWN__ IGR SNP G G T rs113052779 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:63667466G>T NA NA GUSBP6 (56367 upstream) : ZNF679 (21385 downstream) NA NA NA ATTTTACCGGGCCTTTTGTGT 0.522 NA .||| 296 0.0591054 0.0129 0.072 5008 , , NA 14849 0.1746 NA 0.0278 False NA ,,, NA NA NA 2504 0.0256 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.63667466G>T NA hg19 0.02 7.845018 CGGxCCT COVERED NOVEL 0 1 8.484548 KEEP 0 1 10 32 1101 GG 0.999998 0.999998 0 7 60 248 0 0 14.710186 211 60 7471 301 0.03211 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 63667670 63667670 __UNKNOWN__ IGR SNP C C A rs117296995 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:63667670C>A NA NA GUSBP6 (56571 upstream) : ZNF679 (21181 downstream) NA NA NA TGGTTGGAACCGGCTGAAAGT 0.592 NA .||| 295 0.0589058 0.0129 0.072 5008 , , NA 16774 0.1736 NA 0.0278 False NA ,,, NA NA NA 2504 0.0256 NA NA NA NA 0 C 37,1347 0,37,655 34 27 29 -0.8 0 7 dbSNP_132 29 103,3079 0,103,1488 no intron ZNF735 NM_001159524.1 0,140,2143 AA,AC,CC 3.237,2.6734,3.0661 63667670 140,4426 692 1591 2283 SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.63667670C>A NA hg19 0.02 4.001574 AACxGGC COVERED NOVEL 0 1 3.310302 KEEP 0 0 0 11 372 CC 0.993072 0.993072 0 6 60 214 0 0 13.633173 128 60 4251 173 0.044776 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 63673603 63673603 __UNKNOWN__ IGR SNP T T G rs113133873 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:63673603T>G NA NA GUSBP6 (62504 upstream) : ZNF679 (15248 downstream) NA NA NA CTGGGTGAGGTTAACCTCAAT 0.388 NA .||| 292 0.0583067 0.0129 0.072 5008 , , NA 17172 0.1726 NA 0.0278 False NA ,,, NA NA NA 2504 0.0235 NA NA NA NA 0 A 36,1348 0,36,656 45 39 41 -0.2 0 7 dbSNP_132 41 100,3082 0,100,1491 no intron ZNF735 NM_001159524.1 0,136,2147 GG,GT,TT 3.1427,2.6012,2.9785 63673603 136,4430 692 1591 2283 SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.63673603T>G NA hg19 0.02 13.100236 AGGxTAA COVERED NOVEL 0 3 9.32909 KEEP 0 0 0 31 1009 TT 0.999997 0.999997 0 11 60 406 0 0 24.699166 334 60 12053 459 0.031884 1 ZNF736 728927 __UNKNOWN__ __UNKNOWN__ 7 63774584 63774584 __UNKNOWN__ Intron SNP G G T rs812337 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:63774584G>T ENST00000423484.2 + 1 125 ZNF736_ENST00000355095.4_Intron B4DX44 ZN736_HUMAN zinc finger protein 736 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(1)|endometrium(6)|stomach(1)|urinary_tract(1) 9 GTTTGAATCCGGCCGGAACCG 0.622 NA G||| 1525 0.304513 0.0552 0.4294 5008 , , NA 15801 0.2788 NA 0.4195 False NA ,,, NA NA NA 2504 0.4611 NA NA NA NA 0 G 172,1212 10,152,530 159 173 169 0.3 0 7 dbSNP_86 169 1354,1828 299,756,536 no intron ZNF736 NM_001170905.1 309,908,1066 TT,TG,GG 42.5519,12.4277,33.4209 63774584 1526,3040 692 1591 2283 SO:0001627 intron_variant CCDS55114.1 7q11.21 2013-01-08 ENSG00000234444 ENSG00000234444 728927 Zinc fingers, C2H2-type, - 32467 protein-coding gene gene with protein product NA Standard NM_001170905 XM_006716104 NA Approved uc011kdo.2 B4DX44 OTTHUMG00000156537 ENST00000423484.2:c.3+53G>T chr7.hg19:g.63774584G>T NA hg19 CCDS55114.1 0.02 13.011398 TCCxGCC COVERED NOVEL ZNF736-003 NOVEL basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000344559.2 3 32.661614 KEEP 0 3 95 142 4806 GG 1 1 0 + 11 60 407 0 0 25.147457 310 60 10910 588 ENST00000423484.2 0.034268 1 ZNF138 7697 __UNKNOWN__ __UNKNOWN__ 7 64291976 64291976 __UNKNOWN__ Missense_Mutation SNP G G A rs10949946 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:64291976G>A ENST00000437743.1 + 4 508 c.260G>A c.(259-261)gGa>gAa p.G87E ZNF138_ENST00000397136.2_Missense_Mutation_p.G62E|ZNF138_ENST00000494380.1_3'UTR|ZNF138_ENST00000307355.7_Missense_Mutation_p.G119E|ZNF138_ENST00000440155.2_Missense_Mutation_p.G93E|ZNF138_ENST00000430838.2_3'UTR|ZNF138_ENST00000359735.3_Missense_Mutation_p.G62E|ZNF138_ENST00000440598.1_3'UTR NM_001271638.1|NM_001271649.1 NP_001258567.1|NP_001258578.1 P52744 ZN138_HUMAN zinc finger protein 138 62 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) p.G62E(1) kidney(1)|large_intestine(3)|lung(2)|stomach(1) 7 Lung NSC(55;0.0795)|all_lung(88;0.18) GAGTGTAAGGGACACCAAGGA 0.308 NA G||| 1638 0.327077 0.1316 0.4308 5008 , , NA 17790 0.3829 NA 0.4463 False NA ,,, NA NA NA 2504 0.3374 NA NA NA NA 1 Substitution - Missense(1) stomach(1) A ,GLU/GLY 771,3633 75,621,1506 74 74 74 ,278 -1.7 0 7 dbSNP_120 74 3962,4638 930,2102,1268 no utr-3,missense ZNF138 NM_001160183.1,NM_006524.2 ,98 1005,2723,2774 AA,AG,GG 46.0698,17.5068,36.3965 ,benign ,93/294 64291976 4733,8271 2202 4300 6502 SO:0001583 missense U09847 CCDS34645.1, CCDS34645.2, CCDS55115.1, CCDS64659.1, CCDS64660.1, CCDS64661.1, CCDS75607.1 7q11.21 2013-01-08 2005-07-11 ENSG00000197008 ENSG00000197008 7697 Zinc fingers, C2H2-type, - 12922 protein-coding gene gene with protein product 604080 zinc finger protein 138 (clone pHZ-32) NA Standard NM_006524 NM_006524 NA Approved pHZ-32 uc031sxl.1 P52744 OTTHUMG00000156603 ENST00000437743.1:c.260G>A chr7.hg19:g.64291976G>A ENSP00000399528:p.Gly87Glu NA B4DFX2|B4DP87|E9PHI7|E9PHK7 hg19 0.02 29.707346 AGGxACA COVERED 787 0.36034798534798534 67 0.13617886178861788 162 0.44751381215469616 229 0.40034965034965037 329 0.4340369393139842 . 0.355 -0.942902 0.02322 0.175068 0.460698 ENSG00000197008 ENST00000307355;ENST00000359735;ENST00000440155;ENST00000437743;ENST00000397136 T;T;T;T;T 0.05717 3.58;3.4;3.52;3.5;3.4 0.85 -1.7 0.08159 . . . . . T 0.00012 0.0000 N 0.10837 0.055 0.80722 P 0.0 B;B;B 0.06786 0.001;0.001;0.001 B;B;B 0.10450 0.005;0.003;0.005 T 0.41945 -0.9480 8 0.38643 T 0.18 . 4.9998 0.14259 0.2573:0.0:0.7426:0.0 rs10949946;rs57546729;rs10949946 93;87;62 E9PHI7;E7EWC5;P52744 .;.;ZN138_HUMAN E 119;62;93;87;62 ENSP00000303533:G119E;ENSP00000352770:G62E;ENSP00000407262:G93E;ENSP00000399528:G87E;ENSP00000380325:G62E ENSP00000303533:G119E G + 2 0 ZNF138 63929411 0.000000 0.05858 0.001000 0.08648 0.001000 0.01503 -0.464000 0.06688 -1.056000 0.03205 -1.051000 0.02340 GGA NOVEL ZNF138-003 PUTATIVE basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000344744.2 5 16.62069 KEEP 0 2 71 80 2762 GG 1 1 0 + 28 60 1013 0 0 63.306974 691 60 25853 983 ENST00000437743.1 0.038943 1 ZNF273 10793 __UNKNOWN__ __UNKNOWN__ 7 64388472 64388472 __UNKNOWN__ Missense_Mutation SNP C C A rs62455581 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:64388472C>A ENST00000476120.1 + 4 837 c.766C>A c.(766-768)Cat>Aat p.H256N ZNF273_ENST00000527278.1_3'UTR|ZNF273_ENST00000319636.5_Missense_Mutation_p.H191N NM_021148.2 NP_066971.2 Q14593 ZN273_HUMAN zinc finger protein 273 256 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Lung NSC(55;0.0295)|all_lung(88;0.0691) TAAGATAATTCATCCTGAAGT 0.333 NA C||| 211 0.0421326 0.0015 0.0331 5008 , , NA 18522 0.128 NA 0.0388 False NA ,,, NA NA NA 2504 0.0184 NA NA NA Ovarian(154;605 895 6696 7659 15316 19321 21716 23848 32322 36932) NA 0 C ASN/HIS 53,4353 0,53,2150 48 53 51 766 1.2 0 7 dbSNP_129 51 399,8197 13,373,3912 no missense ZNF273 NM_021148.2 68 13,426,6062 AA,AC,CC 4.6417,1.2029,3.4764 benign 256/570 64388472 452,12550 2203 4298 6501 SO:0001583 missense X78932 CCDS5528.2 7q11.21 2013-01-08 ENSG00000198039 10793 Zinc fingers, C2H2-type, - 13067 protein-coding gene gene with protein product 604756 NA 7865130 Standard NR_003099 NA Approved HZF9 uc003tto.3 Q14593 ENST00000476120.1:c.766C>A chr7.hg19:g.64388472C>A ENSP00000418719:p.His256Asn NA B3KQZ5|Q6P3V4 hg19 CCDS5528.2 0.02 7.786355 ATTxATC COVERED 114 0.0521978021978022 1 0.0020325203252032522 8 0.022099447513812154 72 0.1258741258741259 33 0.04353562005277045 . 14.01 2.407294 0.42715 0.012029 0.046417 ENSG00000198039 ENST00000476120;ENST00000319636 T;T 0.67345 -0.26;-0.26 1.16 1.16 0.20824 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1); . . . . T 0.02342 0.0072 H 0.95611 3.695 0.29812 P 0.831521 B 0.18610 0.029 B 0.31812 0.136 T 0.56294 -0.8003 8 0.66056 D 0.02 . 7.3527 0.26700 0.0:1.0:0.0:0.0 rs62455581 256 Q14593 ZN273_HUMAN N 256;191 ENSP00000418719:H256N;ENSP00000324518:H191N ENSP00000324518:H191N H + 1 0 ZNF273 64025907 0.953000 0.32496 0.014000 0.15608 0.013000 0.08279 2.831000 0.48144 0.202000 0.20498 0.205000 0.17691 CAT NOVEL ZNF273-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000313502.1 0 7.96004 KEEP 0 1 30 37 1280 CC 1 1 0 + 8 60 285 0 0 16.993413 239 60 9077 324 ENST00000476120.1 0.032389 1 ERV3-1 2086 __UNKNOWN__ __UNKNOWN__ 7 64453739 64453739 __UNKNOWN__ 5'UTR SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:64453739G>A ENST00000394323.2 - 0 166 NM_001007253.3 NP_001007254.2 Q14264 ENR1_HUMAN endogenous retrovirus group 3, member 1 NA NA extracellular vesicular exosome (GO:0070062)|viral envelope (GO:0019031) breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8) 16 cacttgtcctgggctgctggt 0.522 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AK295189 CCDS47595.1 7p12-q11 2014-05-02 2011-05-05 2011-05-05 ENSG00000213462 ENSG00000213462 2086 3454 other endogenous retrovirus 131170 endogenous retroviral sequence 3 (includes zinc finger protein H-plk/HPF9), endogenous retroviral sequence 3 ERV3 NA 2115127, 6495650, 21542922 Standard NM_001007253 NM_001007253 NA Approved H-PLK, HERV-R, ERV-R, envR uc011kdr.2 Q14264 OTTHUMG00000165023 ENST00000394323.2:c.-335C>T chr7.hg19:g.64453739G>A NA hg19 CCDS47595.1 0.02 6.633753 CCTxGGC COVERED NOVEL ERV3-1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000381468.1 1 8.728175 KEEP 0 0 0 29 1010 GG 0.999997 0.999997 0 - 9 60 322 0 0 21.382049 154 60 5697 224 ENST00000394323.2 0.055215 1 INTS4L1 285905 __UNKNOWN__ __UNKNOWN__ 7 64643785 64643785 __UNKNOWN__ RNA SNP T T C rs199967410 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:64643785T>C ENST00000587624.1 + 0 901 Q96LV5 IN4L1_HUMAN integrator complex subunit 4-like 1 NA NA NA TAGAAATAAATTAATTAGATT 0.383 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA 7q11.21 2013-03-26 ENSG00000164669 ENSG00000164669 285905 21925 other unknown NA Standard XR_041315 XR_426205 NA Approved FLJ25037 Q96LV5 OTTHUMG00000156510 ENST00000587624.1: chr7.hg19:g.64643785T>C NA hg19 0.02 7.457366 AAAxTAA COVERED NOVEL INTS4L1-002 KNOWN non_canonical_conserved|basic processed_transcript NA pseudogene OTTHUMT00000460821.1 12 9.260227 KEEP 74 2 72 56 1670 TT 1 1 0 + 10 54 402 0 0 28.154218 172 55 6208 363 ENST00000587624.1 0.054945 1 VKORC1L1 154807 __UNKNOWN__ __UNKNOWN__ 7 65420188 65420188 __UNKNOWN__ 3'UTR SNP T T C rs12538430 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:65420188T>C ENST00000360768.3 + 0 1537 VKORC1L1_ENST00000434382.2_3'UTR NM_001284342.1|NM_173517.4 NP_001271271.1|NP_775788.2 Q8N0U8 VKORL_HUMAN vitamin K epoxide reductase complex, subunit 1-like 1 NA NA cellular response to oxidative stress (GO:0034599)|peptidyl-glutamic acid carboxylation (GO:0017187)|vitamin K metabolic process (GO:0042373) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) quinone binding (GO:0048038)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057) large_intestine(1)|prostate(1) 2 Lung NSC(55;0.197) Menadione(DB00170) ATGGCATTTTTAGGTAAAGTT 0.388 NA T||| 1601 0.319688 0.1233 0.2478 5008 , , NA 20843 0.4692 NA 0.3956 False NA ,,, NA NA NA 2504 0.4039 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS5529.1, CCDS64663.1 7q11.21 2013-10-07 ENSG00000196715 ENSG00000196715 154807 21492 protein-coding gene gene with protein product 608838 NA 23928358 Standard NM_173517 NM_001284342 NA Approved uc003tul.3 Q8N0U8 OTTHUMG00000129449 ENST00000360768.3:c.*901T>C chr7.hg19:g.65420188T>C NA B4E222|E7ETM5|Q6AHW9|Q6TEK6 hg19 CCDS5529.1 0.02 4.14403 TTTxAGG COVERED NOVEL VKORC1L1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251612.3 0 6.017036 KEEP 0 0 0 20 593 TT 0.999863 0.999862 0 + 5 60 189 0 0 12.10157 124 60 4401 162 ENST00000360768.3 0.03876 1 VKORC1L1 154807 __UNKNOWN__ __UNKNOWN__ 7 65422423 65422423 __UNKNOWN__ 3'UTR SNP A A G rs1134253|rs3201569 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:65422423A>G ENST00000360768.3 + 0 3772 NM_001284342.1|NM_173517.4 NP_001271271.1|NP_775788.2 Q8N0U8 VKORL_HUMAN vitamin K epoxide reductase complex, subunit 1-like 1 NA NA cellular response to oxidative stress (GO:0034599)|peptidyl-glutamic acid carboxylation (GO:0017187)|vitamin K metabolic process (GO:0042373) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) quinone binding (GO:0048038)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057) large_intestine(1)|prostate(1) 2 Lung NSC(55;0.197) Menadione(DB00170) agtcaagatcatgccactgca 0.552 NA G||| 2817 0.5625 0.3298 0.5548 5008 , , NA 14493 0.7887 NA 0.5606 False NA ,,, NA NA NA 2504 0.6513 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS5529.1, CCDS64663.1 7q11.21 2013-10-07 ENSG00000196715 ENSG00000196715 154807 21492 protein-coding gene gene with protein product 608838 NA 23928358 Standard NM_173517 NM_001284342 NA Approved uc003tul.3 Q8N0U8 OTTHUMG00000129449 ENST00000360768.3:c.*3136A>G chr7.hg19:g.65422423A>G NA B4E222|E7ETM5|Q6AHW9|Q6TEK6 hg19 CCDS5529.1 0.02 5.753417 ATCxTGC COVERED NOVEL VKORC1L1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251612.3 21 34.60296 KEEP 1 0 0 115 3619 AA 1 1 0 + 7 60 236 0 0 14.444403 154 60 5636 366 ENST00000360768.3 0.043478 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 65970528 65970528 __UNKNOWN__ IGR SNP A A C rs3735147 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:65970528A>C NA NA GS1-124K5.4 (10067 upstream) : GS1-124K5.11 (20546 downstream) NA NA NA GTATTCACTGAGGGCGACGAG 0.577 NA a||| 1183 0.236222 0.1626 0.1484 5008 , , NA 18921 0.3056 NA 0.2565 False NA ,,, NA NA NA 2504 0.3057 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.65970528A>C NA hg19 0.02 3.6399 CTGxGGG COVERED NOVEL 0 1 5.349789 KEEP 0 1 35 30 911 AA 0.999997 0.999986 0 5 60 165 0 0 10.121215 102 60 3707 148 0.046729 0.999989 KCTD7 154881 __UNKNOWN__ __UNKNOWN__ 7 66105604 66105604 __UNKNOWN__ 3'UTR SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:66105604G>A ENST00000275532.3 + 0 2439 NM_001167961.2|NM_153033.4 NP_001161433.1|NP_694578.1 Q96MP8 KCTD7_HUMAN potassium channel tetramerization domain containing 7 NA NA cell death (GO:0008219)|protein homooligomerization (GO:0051260) cytoplasm (GO:0005737)|plasma membrane (GO:0005886) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1) 16 TTTTTTTAATGTGTAAAGAAT 0.453 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK056631 CCDS5534.1, CCDS55117.1 7q11.21 2014-09-17 2013-06-20 ENSG00000243335 ENSG00000243335 154881 21957 protein-coding gene gene with protein product 611725 potassium channel tetramerisation domain containing 7 NA 12477932 Standard NM_153033 NM_001167961 NA Approved FLJ32069, EPM3, CLN14 uc003tve.3 Q96MP8 OTTHUMG00000129543 ENST00000275532.3:c.*1385G>A chr7.hg19:g.66105604G>A NA A4D2M4|Q8IVR0 hg19 CCDS5534.1 0.02 12.310597 AATxTGT COVERED NOVEL KCTD7-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000251733.2 3 13.841944 KEEP 0 0 0 46 1548 GG 1 1 0 + 12 60 433 0 0 26.586973 322 60 11800 454 ENST00000275532.3 0.035928 1 TMEM248 55069 __UNKNOWN__ __UNKNOWN__ 7 66421688 66421688 __UNKNOWN__ 3'UTR SNP G G C rs4718429 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:66421688G>C ENST00000341567.4 + 0 2379 NM_017994.4 NP_060464.1 Q9NWD8 TM248_HUMAN transmembrane protein 248 NA NA integral component of membrane (GO:0016021) NA tttttttggaggggggaggca 0.453 NA G||| 585 0.116813 0.0408 0.072 5008 , , NA 15667 0.2867 NA 0.0825 False NA ,,, NA NA NA 2504 0.1115 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS5536.1 7q11.21 2012-05-30 2012-05-30 2012-05-30 ENSG00000106609 ENSG00000106609 55069 25476 protein-coding gene gene with protein product chromosome 7 open reading frame 42 C7orf42 NA 12477932 Standard NM_017994 XM_005250482 NA Approved FLJ10099, FLJ13090 uc003tvk.3 Q9NWD8 OTTHUMG00000129553 ENST00000341567.4:c.*1179G>C chr7.hg19:g.66421688G>C NA Q53H07|Q96FR2 hg19 CCDS5536.1 0.02 2.404963 GGAxGGG COVERED NOVEL TMEM248-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251745.2 0 3.310697 KEEP 0 0 0 11 380 GG 0.993072 0.970098 0 + 6 60 199 0 0 14.584978 48 60 1689 72 ENST00000341567.4 0.111111 0.976865 TYW1 55253 __UNKNOWN__ __UNKNOWN__ 7 66463938 66463938 __UNKNOWN__ Silent SNP G G A rs11547292 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:66463938G>A ENST00000359626.5 + 3 434 c.270G>A c.(268-270)gcG>gcA p.A90A NM_018264.2 NP_060734.2 Q9NV66 TYW1_HUMAN tRNA-yW synthesizing protein 1 homolog (S. cerevisiae) 90 Flavodoxin-like. {ECO:0000255|PROSITE- ProRule:PRU00088}. NA tRNA processing (GO:0008033) cytoplasm (GO:0005737)|nucleus (GO:0005634) 4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491) breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2) 46 Lung NSC(55;0.0846)|all_lung(88;0.183) CTGGAACAGCGAAGGTAAGAA 0.383 NA A||| 873 0.174321 0.0575 0.353 5008 , , NA 19979 0.2401 NA 0.1769 False NA ,,, NA NA NA 2504 0.135 NA NA NA NA 0 A 348,4058 792.4+/-415.1 18,312,1873 118 112 114 270 2 1 7 dbSNP_127 114 1304,7296 757.8+/-407.5 123,1058,3119 no coding-synonymous TYW1 NM_018264.2 141,1370,4992 AA,AG,GG 15.1628,7.8983,12.7018 90/733 66463938 1652,11354 2203 4300 6503 SO:0001819 synonymous_variant AK001762 CCDS5538.1 7q11.21 2007-11-29 2007-11-29 2007-11-29 ENSG00000198874 ENSG00000198874 55253 25598 protein-coding gene gene with protein product tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae) 611243 radical S-adenosyl methionine and flavodoxin domains 1 RSAFD1 NA 16162496, 17150819 Standard NM_018264 NM_018264 NA Approved FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A uc003tvn.4 Q9NV66 OTTHUMG00000129723 ENST00000359626.5:c.270G>A chr7.hg19:g.66463938G>A NA Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4 hg19 CCDS5538.1 0.02 11.226066 AGCxAAG COVERED NOVEL TYW1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251932.2 1 23.804308 KEEP 0 1 31 90 3018 GG 1 1 0 + 13 60 476 0 0 31.071289 262 60 9641 449 ENST00000359626.5 0.047273 1 STAG3L4 64940 __UNKNOWN__ __UNKNOWN__ 7 66773340 66773340 __UNKNOWN__ RNA SNP G G A rs35036128 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:66773340G>A ENST00000416602.2 + 0 362 NR_040586.1 Q8TBR4 ST3L4_HUMAN stromal antigen 3-like 4 (pseudogene) NA NA endometrium(2)|lung(5) 7 Lung NSC(55;0.0839)|all_lung(88;0.181) GGATTTGGCCGTGTCTACACC 0.458 NA g||| 687 0.137181 0.0371 0.2565 5008 , , NA 20628 0.253 NA 0.0825 False NA ,,, NA NA NA 2504 0.1247 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA 7q11.21 2013-06-26 2013-06-26 ENSG00000106610 ENSG00000106610 64940 33887 pseudogene pseudogene stromal antigen 3-like 4 NA Standard NM_022906 NR_040585 NA Approved FLJ13195, STAG3L4P uc010laj.3 Q8TBR4 OTTHUMG00000156920 ENST00000416602.2: chr7.hg19:g.66773340G>A NA Q9H8W0 hg19 0.02 2.116008 GCCxTGT COVERED NOVEL STAG3L4-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000346611.1 1 3.611281 KEEP 0 0 0 12 399 GG 0.993634 0.993403 0 + 7 60 248 0 0 17.571243 80 60 2641 103 ENST00000416602.2 0.08046 0.999768 AUTS2 26053 __UNKNOWN__ __UNKNOWN__ 7 70233139 70233139 __UNKNOWN__ Intron SNP G G A rs3750170 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:70233139G>A ENST00000342771.4 + 10 2055 AUTS2_ENST00000406775.2_Intron NM_015570.2 NP_056385.1 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 NA NA breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 50 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) ATGACTAGCAGCCTTCCTTAA 0.423 NA G||| 1081 0.215855 0.1278 0.3084 5008 , , NA 22345 0.373 NA 0.1402 False NA ,,, NA NA NA 2504 0.1851 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF326917 CCDS5539.1, CCDS47601.1, CCDS47602.1 7q11.22 2014-01-06 ENSG00000158321 ENSG00000158321 26053 14262 protein-coding gene gene with protein product 607270 NA 12160723 Standard XM_005250257 NA Approved KIAA0442, FBRSL2 uc003tvw.4 Q8WXX7 OTTHUMG00000023865 ENST00000342771.4:c.1734+85G>A chr7.hg19:g.70233139G>A NA A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2 hg19 CCDS5539.1 0.02 18.68491 GCAxCCT COVERED NOVEL AUTS2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000251971.2 3 15.0224 KEEP 0 0 0 50 1758 GG 1 1 0 + 15 60 532 0 0 31.424335 465 60 17705 630 ENST00000342771.4 0.03125 1 AUTS2 26053 __UNKNOWN__ __UNKNOWN__ 7 70249868 70249868 __UNKNOWN__ Intron SNP G G A rs3817575 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:70249868G>A ENST00000342771.4 + 16 2467 AUTS2_ENST00000406775.2_Intron NM_015570.2 NP_056385.1 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 NA NA breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 50 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) AGTAGAAGCCGGTTGCATCTT 0.507 NA G||| 1125 0.224641 0.2284 0.2493 5008 , , NA 16808 0.37 NA 0.1173 False NA ,,, NA NA NA 2504 0.1626 NA NA NA NA 0 G , 285,1099 28,229,435 89 78 81 , -8.1 0 7 dbSNP_107 81 367,2815 18,331,1242 no intron,intron AUTS2 NM_001127231.1,NM_015570.2 , 46,560,1677 AA,AG,GG 11.5336,20.5925,14.2795 , , 70249868 652,3914 692 1591 2283 SO:0001627 intron_variant AF326917 CCDS5539.1, CCDS47601.1, CCDS47602.1 7q11.22 2014-01-06 ENSG00000158321 ENSG00000158321 26053 14262 protein-coding gene gene with protein product 607270 NA 12160723 Standard XM_005250257 NA Approved KIAA0442, FBRSL2 uc003tvw.4 Q8WXX7 OTTHUMG00000023865 ENST00000342771.4:c.2147-60G>A chr7.hg19:g.70249868G>A NA A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2 hg19 CCDS5539.1 0.02 8.63052 GCCxGTT COVERED NOVEL AUTS2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000251971.2 2 17.487685 KEEP 0 1 31 69 2349 GG 1 1 0 + 7 60 265 0 0 16.400865 211 60 7331 366 ENST00000342771.4 0.03211 1 AUTS2 26053 __UNKNOWN__ __UNKNOWN__ 7 70249908 70249908 __UNKNOWN__ Intron SNP C C T rs2293504 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:70249908C>T ENST00000342771.4 + 16 2467 AUTS2_ENST00000406775.2_Intron NM_015570.2 NP_056385.1 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 NA NA breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 50 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) ACTCTGGTTTCGTTATGTTTG 0.507 NA T||| 1160 0.231629 0.2511 0.2493 5008 , , NA 17304 0.373 NA 0.1173 False NA ,,, NA NA NA 2504 0.1646 NA NA NA NA 0 T , 937,3469 736.2+/-410.7 94,749,1360 87 79 82 , -9.2 0 7 dbSNP_100 82 916,7684 777.3+/-407.7 38,840,3422 no intron,intron AUTS2 NM_001127231.1,NM_015570.2 , 132,1589,4782 TT,TC,CC 10.6512,21.2665,14.2473 , , 70249908 1853,11153 2203 4300 6503 SO:0001627 intron_variant AF326917 CCDS5539.1, CCDS47601.1, CCDS47602.1 7q11.22 2014-01-06 ENSG00000158321 ENSG00000158321 26053 14262 protein-coding gene gene with protein product 607270 NA 12160723 Standard XM_005250257 NA Approved KIAA0442, FBRSL2 uc003tvw.4 Q8WXX7 OTTHUMG00000023865 ENST00000342771.4:c.2147-20C>T chr7.hg19:g.70249908C>T NA A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2 hg19 CCDS5539.1 0.02 6.170829 TTTxGTT COVERED NOVEL AUTS2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000251971.2 1 14.379779 KEEP 0 1 32 59 1997 CC 1 1 0 + 6 60 220 0 0 13.259768 187 60 6562 307 ENST00000342771.4 0.031088 1 WBSCR17 64409 __UNKNOWN__ __UNKNOWN__ 7 70597884 70597884 __UNKNOWN__ Silent SNP G G A rs61741535 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:70597884G>A ENST00000333538.5 + 1 730 c.96G>A c.(94-96)gcG>gcA p.A32A NM_022479.1 NP_071924.1 Q6IS24 GLTL3_HUMAN Williams-Beuren syndrome chromosome region 17 32 NA protein glycosylation (GO:0006486) Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653) NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) GGCCCATCGCGGTGCGCAGCG 0.642 NA G||| 300 0.0599042 0.0204 0.0548 5008 , , NA 13763 0.1002 NA 0.0646 False NA ,,, NA NA NA 2504 0.0706 NA NA NA NA 0 G 122,4284 88.2+/-126.9 6,110,2087 47 43 44 96 -4.2 1 7 dbSNP_129 44 598,7996 153.0+/-207.5 24,550,3723 no coding-synonymous WBSCR17 NM_022479.1 30,660,5810 AA,AG,GG 6.9583,2.769,5.5385 32/599 70597884 720,12280 2203 4297 6500 SO:0001819 synonymous_variant AF410457 CCDS5540.1 7q11.23 2014-03-13 ENSG00000185274 ENSG00000185274 64409 Glycosyltransferase family 2 domain containing 16347 protein-coding gene gene with protein product polypeptide N-acetylgalactosaminyltransferase-like 3, polypeptide GalNAc transferase 3 615137 NA 12073013, 15744064, 22787146 Standard NM_022479 NM_022479 NA Approved GALNTL3, GalNAc-T5L uc003tvy.4 Q6IS24 OTTHUMG00000129783 ENST00000333538.5:c.96G>A chr7.hg19:g.70597884G>A NA Q8NFV9|Q9NTA8 hg19 CCDS5540.1 0.02 14.116811 CGCxGTG COVERED NOVEL WBSCR17-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252006.1 1 36.714278 KEEP 0 0 0 122 4220 GG 1 1 0 + 14 60 539 0 0 35.186319 329 60 11730 583 ENST00000333538.5 0.040816 1 WBSCR17 64409 __UNKNOWN__ __UNKNOWN__ 7 71178166 71178166 __UNKNOWN__ 3'UTR SNP G G T rs1043987 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:71178166G>T ENST00000333538.5 + 0 3466 WBSCR17_ENST00000498380.2_3'UTR NM_022479.1 NP_071924.1 Q6IS24 GLTL3_HUMAN Williams-Beuren syndrome chromosome region 17 NA NA protein glycosylation (GO:0006486) Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653) NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) gcatgcacaagtgtgtgtgtg 0.512 NA G||| 660 0.131789 0.031 0.1383 5008 , , NA 22545 0.2778 NA 0.0626 False NA ,,, NA NA NA 2504 0.184 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF410457 CCDS5540.1 7q11.23 2014-03-13 ENSG00000185274 ENSG00000185274 64409 Glycosyltransferase family 2 domain containing 16347 protein-coding gene gene with protein product polypeptide N-acetylgalactosaminyltransferase-like 3, polypeptide GalNAc transferase 3 615137 NA 12073013, 15744064, 22787146 Standard NM_022479 NM_022479 NA Approved GALNTL3, GalNAc-T5L uc003tvy.4 Q6IS24 OTTHUMG00000129783 ENST00000333538.5:c.*1035G>T chr7.hg19:g.71178166G>T NA Q8NFV9|Q9NTA8 hg19 CCDS5540.1 0.02 3.741181 CAAxTGT COVERED NOVEL WBSCR17-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252006.1 0 3.912826 KEEP 0 0 0 13 472 GG 0.994391 0.994391 0 + 6 60 218 0 0 13.913661 134 60 4898 162 ENST00000333538.5 0.042857 1 WBSCR17 64409 __UNKNOWN__ __UNKNOWN__ 7 71178383 71178383 __UNKNOWN__ 3'UTR SNP G G A rs570818643 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:71178383G>A ENST00000333538.5 + 0 3683 WBSCR17_ENST00000498380.2_3'UTR NM_022479.1 NP_071924.1 Q6IS24 GLTL3_HUMAN Williams-Beuren syndrome chromosome region 17 NA NA protein glycosylation (GO:0006486) Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653) NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) GGGTGCCCCCGATGGGAGGCT 0.637 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF410457 CCDS5540.1 7q11.23 2014-03-13 ENSG00000185274 ENSG00000185274 64409 Glycosyltransferase family 2 domain containing 16347 protein-coding gene gene with protein product polypeptide N-acetylgalactosaminyltransferase-like 3, polypeptide GalNAc transferase 3 615137 NA 12073013, 15744064, 22787146 Standard NM_022479 NM_022479 NA Approved GALNTL3, GalNAc-T5L uc003tvy.4 Q6IS24 OTTHUMG00000129783 ENST00000333538.5:c.*1252G>A chr7.hg19:g.71178383G>A NA Q8NFV9|Q9NTA8 hg19 CCDS5540.1 0.02 10.440673 CCCxATG COVERED NOVEL WBSCR17-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252006.1 0 6.620941 KEEP 0 0 0 22 741 GG 0.999879 0.999879 0 + 10 60 328 0 0 19.853755 240 60 8433 303 ENST00000333538.5 0.04 1 CALN1 83698 __UNKNOWN__ __UNKNOWN__ 7 71248252 71248252 __UNKNOWN__ 3'UTR SNP C C G rs118104774 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:71248252C>G ENST00000329008.5 - 0 5466 CALN1_ENST00000395276.2_3'UTR|CALN1_ENST00000395275.2_3'UTR NM_001017440.2 NP_001017440.1 Q9BXU9 CABP8_HUMAN calneuron 1 NA NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588) calcium ion binding (GO:0005509) biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2) 32 all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161) GTTATACAACCAGGATGTGTG 0.468 NA .||| 220 0.0439297 0.0446 0.0101 5008 , , NA 19357 0.1151 NA 0.001 False NA ,,, NA NA NA 2504 0.0378 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF282250 CCDS5541.1, CCDS47603.1 7q11 2013-01-10 ENSG00000183166 ENSG00000183166 83698 EF-hand domain containing 13248 protein-coding gene gene with protein product calcium-binding protein CABP8 607176 NA 11286509 Standard NM_031468 NM_031468 NA Approved uc003twb.4 Q9BXU9 OTTHUMG00000023787 ENST00000329008.5:c.*4508G>C chr7.hg19:g.71248252C>G NA J3KQA7 hg19 CCDS5541.1 0.02 3.995404 AACxAGG COVERED NOVEL CALN1-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000320044.2 1 4.21373 KEEP 0 0 0 14 496 CC 0.995343 0.995343 0 - 7 60 256 0 0 16.744702 139 60 5232 178 ENST00000329008.5 0.047945 1 TYW1B 441250 __UNKNOWN__ __UNKNOWN__ 7 72178756 72178756 __UNKNOWN__ RNA SNP C C A rs146095374 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:72178756C>A ENST00000435769.2 - 0 1316 TYW1B_ENST00000438125.1_RNA|TYW1B_ENST00000343721.5_RNA Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) NA NA tRNA processing (GO:0008033) 4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491) NA GCCCGGTACTCCTGGAGAATA 0.433 NA C||| 632 0.126198 0.0325 0.1571 5008 , , NA 21772 0.3165 NA 0.0398 False NA ,,, NA NA NA 2504 0.1237 NA NA NA NA 0 40 38 38 NA NA 7 NA 72178756 692 1590 2282 BC068520 CCDS69309.1 7q11.23 2011-08-11 2009-07-28 ENSG00000254184 ENSG00000277149 441250 33908 protein-coding gene gene with protein product radical S-adenosyl methionine and flavodoxin domains 1, non-protein coding RNA 69, long intergenic non-protein coding RNA 69 tRNA-yW synthesizing protein 1 homolog B (non-protein coding) NA Standard NM_001145440 NM_001145440 NA Approved RSAFD2, MGC87315, NCRNA00069, LINC00069 uc011kej.2 Q6NUM6 OTTHUMG00000157067 ENST00000435769.2: chr7.hg19:g.72178756C>A NA A6NG09|B4DFY2|Q3KQX2 hg19 0.02 13.432073 ACTxCTG COVERED NOVEL TYW1B-001 KNOWN basic polymorphic_pseudogene NA polymorphic_pseudogene OTTHUMT00000347346.2 5 26.184218 KEEP 156 0 0 87 3034 CC 1 1 0 - 10 60 353 0 0 20.063927 365 60 13524 686 ENST00000435769.2 0.026667 1 TYW1B 441250 __UNKNOWN__ __UNKNOWN__ 7 72277981 72277981 __UNKNOWN__ RNA SNP T T C rs2286317 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:72277981T>C ENST00000435769.2 - 0 555 TYW1B_ENST00000438904.2_RNA|TYW1B_ENST00000438125.1_RNA Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) NA NA tRNA processing (GO:0008033) 4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491) NA GCTAAAAGCATGGTTCTCTAA 0.507 NA .||| 1967 0.392772 0.4584 0.3545 5008 , , NA 18634 0.5546 NA 0.2416 False NA ,,, NA NA NA 2504 0.32 NA NA NA NA 0 25 26 25 NA NA 7 NA 72277981 691 1591 2282 BC068520 CCDS69309.1 7q11.23 2011-08-11 2009-07-28 ENSG00000254184 ENSG00000277149 441250 33908 protein-coding gene gene with protein product radical S-adenosyl methionine and flavodoxin domains 1, non-protein coding RNA 69, long intergenic non-protein coding RNA 69 tRNA-yW synthesizing protein 1 homolog B (non-protein coding) NA Standard NM_001145440 NM_001145440 NA Approved RSAFD2, MGC87315, NCRNA00069, LINC00069 uc011kej.2 Q6NUM6 OTTHUMG00000157067 ENST00000435769.2: chr7.hg19:g.72277981T>C NA A6NG09|B4DFY2|Q3KQX2 hg19 0.02 9.528879 GCAxGGT COVERED NOVEL TYW1B-001 KNOWN basic polymorphic_pseudogene NA polymorphic_pseudogene OTTHUMT00000347346.2 2 13.239884 KEEP 0 0 0 44 1395 TT 1 1 0 - 15 60 545 0 0 37.914292 204 60 7524 311 ENST00000435769.2 0.068493 1 POM121 9883 __UNKNOWN__ __UNKNOWN__ 7 72361217 72361217 __UNKNOWN__ 5'UTR SNP T T C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:72361217T>C ENST00000395270.1 + 0 573 POM121_ENST00000257622.4_5'UTR|POM121_ENST00000446813.1_5'UTR NM_001257190.1 NP_001244119.1 Q96HA1 P121A_HUMAN POM121 transmembrane nucleoporin NA NA carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032) endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643) NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Lung NSC(55;0.163) GGAGGAGTGGTGGCAACTGGA 0.483 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AB014518 CCDS5542.1, CCDS59059.1 7q11.23 2013-01-08 2012-03-13 ENSG00000196313 ENSG00000196313 9883 - 19702 protein-coding gene gene with protein product 615753 POM121 membrane glycoprotein (rat), POM121 membrane glycoprotein NA 8335683, 9734811, 17900573 Standard NM_172020 NA Approved KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A uc003twk.2 Q96HA1 OTTHUMG00000023527 ENST00000395270.1:c.-469T>C chr7.hg19:g.72361217T>C NA A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7 hg19 CCDS59059.1 0.02 6.131498 TGGxGGC COVERED NOVEL POM121-003 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000252020.1 0 6.554455 KEEP 18 1 38 35 1091 TT 0.999999 0.999999 0 + 6 37 206 0 0 12.496457 146 60 5239 268 ENST00000395270.1 0.039474 1 GTF2IRD2P1 401375 __UNKNOWN__ __UNKNOWN__ 7 72656918 72656918 __UNKNOWN__ RNA SNP C C T rs200447577 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:72656918C>T ENST00000425256.1 - 0 2993 GTF2I repeat domain containing 2 pseudogene 1 NA NA NA gaactcatttcgtcagctggg 0.418 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AY312852 7q11.23 2010-03-19 2010-02-09 2010-02-09 ENSG00000214544 ENSG00000214544 401375 33127 pseudogene pseudogene GTF2I repeat domain containing 2 pseudogene GTF2IRD2P NA 15100712 Standard NR_002164 NG_033736 NA Approved uc003txs.1 OTTHUMG00000156803 ENST00000425256.1: chr7.hg19:g.72656918C>T NA hg19 0.02 4.396399 TTTxGTC COVERED NOVEL GTF2IRD2P1-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000345921.1 5 4.885561 KEEP 1 2 65 39 1351 CC 1 0.999999 0 - 5 55 183 0 0 11.608822 118 60 4031 206 ENST00000425256.1 0.04065 0.999999 TRIM50 135892 __UNKNOWN__ __UNKNOWN__ 7 72734082 72734082 __UNKNOWN__ Intron SNP C C T rs532991537 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:72734082C>T ENST00000333149.2 - 3 696 TRIM50_ENST00000453152.1_Intron NM_178125.2 NP_835226.2 Q86XT4 TRI50_HUMAN tripartite motif containing 50 NA NA cytoplasm (GO:0005737) ligase activity (GO:0016874)|zinc ion binding (GO:0008270) endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2) 20 CCAATGAGAACTGAGTTCTAC 0.552 NA C||| 1 0.000199681 0.0 0.0 5008 , , NA 20180 0.0 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY081948 CCDS34654.1 7q11.23 2013-01-09 2011-01-25 2006-03-31 ENSG00000146755 ENSG00000146755 135892 Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers 19017 protein-coding gene gene with protein product 612548 tripartite motif-containing 50A, tripartite motif-containing 50 TRIM50A NA Standard NM_178125 NM_001281450 NA Approved FLJ32804 uc003txy.1 Q86XT4 OTTHUMG00000156805 ENST00000333149.2:c.495+63G>A chr7.hg19:g.72734082C>T NA Q86XT3 hg19 CCDS34654.1 0.02 12.770447 GAAxTGA COVERED NOVEL TRIM50-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000345925.1 2 8.12504 KEEP 10 0 0 27 898 CC 0.999892 0.999892 0 - 11 60 396 0 0 24.331855 292 60 10709 358 ENST00000333149.2 0.036304 1 CLDN4 1364 __UNKNOWN__ __UNKNOWN__ 7 73243786 73243786 __UNKNOWN__ 5'UTR SNP T T G rs4717822 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:73243786T>G ENST00000435050.1 + 0 935 CLDN4_ENST00000431918.1_5'UTR O14493 CLD4_HUMAN claudin 4 NA NA calcium-independent cell-cell adhesion (GO:0016338)|establishment of skin barrier (GO:0061436)|female pregnancy (GO:0007565)|response to progesterone (GO:0032570)|signal transduction (GO:0007165) apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basal plasma membrane (GO:0009925)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923) identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)|transmembrane signaling receptor activity (GO:0004888) kidney(2)|lung(4)|urinary_tract(1) 7 Lung NSC(55;0.159) CCCAGCATGGTTGGGAAGAGA 0.622 NA T||| 2866 0.572284 0.4304 0.6124 5008 , , NA 18832 0.5804 NA 0.7256 False NA ,,, NA NA NA 2504 0.5695 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AB000712 CCDS5560.1 7q11.23 2008-07-18 ENSG00000189143 ENSG00000189143 1364 Claudins 2046 protein-coding gene gene with protein product Clostridium perfringens enterotoxin receptor 1, Williams-Beuren syndrome chromosomal region 8 protein 602909 CPETR, CPETR1 NA 9334247, 9892664 Standard NM_001305 NM_001305 NA Approved CPE-R, WBSCR8, hCPE-R uc003tzi.4 O14493 OTTHUMG00000023425 ENST00000435050.1:c.-1746T>G chr7.hg19:g.73243786T>G NA hg19 CCDS5560.1 0.02 18.714875 TGGxTGG COVERED NOVEL CLDN4-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000348030.1 2 7.890615 KEEP 0 2 65 49 1504 TT 1 1 0 + 28 60 987 0 0 68.235776 381 60 13354 524 ENST00000435050.1 0.06846 1 CLDN4 1364 __UNKNOWN__ __UNKNOWN__ 7 73244214 73244214 __UNKNOWN__ 5'UTR SNP G G A rs7793169 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:73244214G>A ENST00000435050.1 + 0 1363 CLDN4_ENST00000431918.1_5'UTR O14493 CLD4_HUMAN claudin 4 NA NA calcium-independent cell-cell adhesion (GO:0016338)|establishment of skin barrier (GO:0061436)|female pregnancy (GO:0007565)|response to progesterone (GO:0032570)|signal transduction (GO:0007165) apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basal plasma membrane (GO:0009925)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923) identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)|transmembrane signaling receptor activity (GO:0004888) kidney(2)|lung(4)|urinary_tract(1) 7 Lung NSC(55;0.159) CTGGCCCACCGTCTACCAGAA 0.557 NA G||| 2910 0.58107 0.4637 0.6124 5008 , , NA 19420 0.5804 NA 0.7256 False NA ,,, NA NA NA 2504 0.5695 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AB000712 CCDS5560.1 7q11.23 2008-07-18 ENSG00000189143 ENSG00000189143 1364 Claudins 2046 protein-coding gene gene with protein product Clostridium perfringens enterotoxin receptor 1, Williams-Beuren syndrome chromosomal region 8 protein 602909 CPETR, CPETR1 NA 9334247, 9892664 Standard NM_001305 NM_001305 NA Approved CPE-R, WBSCR8, hCPE-R uc003tzi.4 O14493 OTTHUMG00000023425 ENST00000435050.1:c.-1318G>A chr7.hg19:g.73244214G>A NA hg19 CCDS5560.1 0.02 16.359577 ACCxTCT COVERED NOVEL CLDN4-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000348030.1 4 14.914944 KEEP 0 2 58 70 2424 GG 1 1 0 + 32 60 1186 0 0 86.548437 339 60 11813 540 ENST00000435050.1 0.086253 1 CLDN4 1364 __UNKNOWN__ __UNKNOWN__ 7 73244282 73244282 __UNKNOWN__ De_novo_Start_OutOfFrame SNP G G A rs7793313 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:73244282G>A ENST00000435050.1 + 0 1431 CLDN4_ENST00000431918.1_De_novo_Start_OutOfFrame O14493 CLD4_HUMAN claudin 4 NA NA calcium-independent cell-cell adhesion (GO:0016338)|establishment of skin barrier (GO:0061436)|female pregnancy (GO:0007565)|response to progesterone (GO:0032570)|signal transduction (GO:0007165) apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basal plasma membrane (GO:0009925)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923) identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)|transmembrane signaling receptor activity (GO:0004888) kidney(2)|lung(4)|urinary_tract(1) 7 Lung NSC(55;0.159) ACCTGTTCACGATGCCTTCTG 0.582 NA G||| 2736 0.546326 0.3374 0.6037 5008 , , NA 18732 0.5804 NA 0.7247 False NA ,,, NA NA NA 2504 0.5695 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AB000712 CCDS5560.1 7q11.23 2008-07-18 ENSG00000189143 ENSG00000189143 1364 Claudins 2046 protein-coding gene gene with protein product Clostridium perfringens enterotoxin receptor 1, Williams-Beuren syndrome chromosomal region 8 protein 602909 CPETR, CPETR1 NA 9334247, 9892664 Standard NM_001305 NM_001305 NA Approved CPE-R, WBSCR8, hCPE-R uc003tzi.4 O14493 OTTHUMG00000023425 ENST00000435050.1:c.-1250G>A chr7.hg19:g.73244282G>A NA hg19 CCDS5560.1 0.02 15.58984 CACxATG COVERED NOVEL CLDN4-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000348030.1 1 18.025202 KEEP 0 2 63 82 2726 GG 1 1 0 + 31 60 1102 0 0 78.453163 347 60 12146 543 ENST00000435050.1 0.082011 1 CLDN4 1364 __UNKNOWN__ __UNKNOWN__ 7 73244761 73244761 __UNKNOWN__ 5'UTR SNP A A G rs4304220 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:73244761A>G ENST00000435050.1 + 0 1910 CLDN4_ENST00000431918.1_5'UTR O14493 CLD4_HUMAN claudin 4 NA NA calcium-independent cell-cell adhesion (GO:0016338)|establishment of skin barrier (GO:0061436)|female pregnancy (GO:0007565)|response to progesterone (GO:0032570)|signal transduction (GO:0007165) apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basal plasma membrane (GO:0009925)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923) identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)|transmembrane signaling receptor activity (GO:0004888) kidney(2)|lung(4)|urinary_tract(1) 7 Lung NSC(55;0.159) ACTCCCCTACACGTAACTTTA 0.557 NA A||| 2737 0.546526 0.3374 0.6052 5008 , , NA 19148 0.5804 NA 0.7247 False NA ,,, NA NA NA 2504 0.5695 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AB000712 CCDS5560.1 7q11.23 2008-07-18 ENSG00000189143 ENSG00000189143 1364 Claudins 2046 protein-coding gene gene with protein product Clostridium perfringens enterotoxin receptor 1, Williams-Beuren syndrome chromosomal region 8 protein 602909 CPETR, CPETR1 NA 9334247, 9892664 Standard NM_001305 NM_001305 NA Approved CPE-R, WBSCR8, hCPE-R uc003tzi.4 O14493 OTTHUMG00000023425 ENST00000435050.1:c.-771A>G chr7.hg19:g.73244761A>G NA hg19 CCDS5560.1 0.02 4.573257 TACxCGT COVERED NOVEL CLDN4-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000348030.1 1 7.821023 KEEP 0 0 0 26 765 AA 0.999957 0.999957 0 + 8 60 279 0 0 18.48994 129 60 4437 192 ENST00000435050.1 0.058394 1 CLDN4 1364 __UNKNOWN__ __UNKNOWN__ 7 73245103 73245103 __UNKNOWN__ 5'UTR SNP C C T rs4640941 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:73245103C>T ENST00000435050.1 + 0 2252 CLDN4_ENST00000431918.1_5'UTR O14493 CLD4_HUMAN claudin 4 NA NA calcium-independent cell-cell adhesion (GO:0016338)|establishment of skin barrier (GO:0061436)|female pregnancy (GO:0007565)|response to progesterone (GO:0032570)|signal transduction (GO:0007165) apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basal plasma membrane (GO:0009925)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923) identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)|transmembrane signaling receptor activity (GO:0004888) kidney(2)|lung(4)|urinary_tract(1) 7 Lung NSC(55;0.159) GTCTGTCTCCCGGGTGACCTC 0.582 NA C||| 2737 0.546526 0.3374 0.6052 5008 , , NA 18355 0.5804 NA 0.7247 False NA ,,, NA NA NA 2504 0.5695 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AB000712 CCDS5560.1 7q11.23 2008-07-18 ENSG00000189143 ENSG00000189143 1364 Claudins 2046 protein-coding gene gene with protein product Clostridium perfringens enterotoxin receptor 1, Williams-Beuren syndrome chromosomal region 8 protein 602909 CPETR, CPETR1 NA 9334247, 9892664 Standard NM_001305 NM_001305 NA Approved CPE-R, WBSCR8, hCPE-R uc003tzi.4 O14493 OTTHUMG00000023425 ENST00000435050.1:c.-429C>T chr7.hg19:g.73245103C>T NA hg19 CCDS5560.1 0.02 6.91201 TCCxGGG COVERED NOVEL CLDN4-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000348030.1 0 9.060155 KEEP 0 1 34 42 1426 CC 1 1 0 + 9 60 337 0 0 23.106426 145 60 5028 255 ENST00000435050.1 0.058442 1 CLDN4 1364 __UNKNOWN__ __UNKNOWN__ 7 73245179 73245179 __UNKNOWN__ 5'UTR SNP G G A rs4458741 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:73245179G>A ENST00000435050.1 + 0 2328 CLDN4_ENST00000431918.1_5'UTR O14493 CLD4_HUMAN claudin 4 NA NA calcium-independent cell-cell adhesion (GO:0016338)|establishment of skin barrier (GO:0061436)|female pregnancy (GO:0007565)|response to progesterone (GO:0032570)|signal transduction (GO:0007165) apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basal plasma membrane (GO:0009925)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923) identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)|transmembrane signaling receptor activity (GO:0004888) kidney(2)|lung(4)|urinary_tract(1) 7 Lung NSC(55;0.159) TCAGGGACCCGGGGCTGGGGC 0.582 NA G||| 2911 0.58127 0.4637 0.6124 5008 , , NA 16417 0.5813 NA 0.7256 False NA ,,, NA NA NA 2504 0.5695 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AB000712 CCDS5560.1 7q11.23 2008-07-18 ENSG00000189143 ENSG00000189143 1364 Claudins 2046 protein-coding gene gene with protein product Clostridium perfringens enterotoxin receptor 1, Williams-Beuren syndrome chromosomal region 8 protein 602909 CPETR, CPETR1 NA 9334247, 9892664 Standard NM_001305 NM_001305 NA Approved CPE-R, WBSCR8, hCPE-R uc003tzi.4 O14493 OTTHUMG00000023425 ENST00000435050.1:c.-353G>A chr7.hg19:g.73245179G>A NA hg19 CCDS5560.1 0.02 4.731051 CCCxGGG COVERED NOVEL CLDN4-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000348030.1 0 9.329277 KEEP 0 0 0 31 1038 GG 0.999997 0.999996 0 + 8 60 312 0 0 22.284983 111 60 3870 184 ENST00000435050.1 0.067227 0.999998 CLDN4 1364 __UNKNOWN__ __UNKNOWN__ 7 73245519 73245519 __UNKNOWN__ 5'UTR SNP T T C rs8629 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:73245519T>C ENST00000435050.1 + 0 2668 CLDN4_ENST00000340958.2_5'UTR|CLDN4_ENST00000431918.1_5'UTR O14493 CLD4_HUMAN claudin 4 NA NA calcium-independent cell-cell adhesion (GO:0016338)|establishment of skin barrier (GO:0061436)|female pregnancy (GO:0007565)|response to progesterone (GO:0032570)|signal transduction (GO:0007165) apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basal plasma membrane (GO:0009925)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923) identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)|transmembrane signaling receptor activity (GO:0004888) kidney(2)|lung(4)|urinary_tract(1) 7 Lung NSC(55;0.159) TCAACTCCCGTGGACGCTGAA 0.642 NA C||| 2909 0.580871 0.4629 0.6124 5008 , , NA 16648 0.5804 NA 0.7256 False NA ,,, NA NA NA 2504 0.5695 NA NA NA NA 0 C 2288,2118 601,1086,516 45 45 45 4.6 0 7 dbSNP_52 45 6375,2221 2376,1623,299 no utr-5 CLDN4 NM_001305.3 2977,2709,815 CC,CT,TT 25.8376,48.0708,33.3718 73245519 8663,4339 2203 4298 6501 SO:0001623 5_prime_UTR_variant AB000712 CCDS5560.1 7q11.23 2008-07-18 ENSG00000189143 ENSG00000189143 1364 Claudins 2046 protein-coding gene gene with protein product Clostridium perfringens enterotoxin receptor 1, Williams-Beuren syndrome chromosomal region 8 protein 602909 CPETR, CPETR1 NA 9334247, 9892664 Standard NM_001305 NM_001305 NA Approved CPE-R, WBSCR8, hCPE-R uc003tzi.4 O14493 OTTHUMG00000023425 ENST00000435050.1:c.-13T>C chr7.hg19:g.73245519T>C NA hg19 CCDS5560.1 0.02 14.632014 CCGxGGA COVERED NOVEL CLDN4-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000348030.1 0 15.937018 KEEP 0 3 100 88 2659 TT 1 1 0 + 16 60 579 0 0 38.279972 290 60 10447 500 ENST00000435050.1 0.052288 1 CLDN4 1364 __UNKNOWN__ __UNKNOWN__ 7 73246461 73246461 __UNKNOWN__ 3'UTR SNP A A G rs1127155 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:73246461A>G ENST00000435050.1 + 0 3610 CLDN4_ENST00000340958.2_3'UTR|CLDN4_ENST00000431918.1_3'UTR O14493 CLD4_HUMAN claudin 4 NA NA calcium-independent cell-cell adhesion (GO:0016338)|establishment of skin barrier (GO:0061436)|female pregnancy (GO:0007565)|response to progesterone (GO:0032570)|signal transduction (GO:0007165) apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basal plasma membrane (GO:0009925)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923) identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)|transmembrane signaling receptor activity (GO:0004888) kidney(2)|lung(4)|urinary_tract(1) 7 Lung NSC(55;0.159) TGGCCAGGATAGCTTAACCCT 0.572 NA G||| 3036 0.60623 0.5537 0.6167 5008 , , NA 18260 0.5804 NA 0.7276 False NA ,,, NA NA NA 2504 0.5716 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB000712 CCDS5560.1 7q11.23 2008-07-18 ENSG00000189143 ENSG00000189143 1364 Claudins 2046 protein-coding gene gene with protein product Clostridium perfringens enterotoxin receptor 1, Williams-Beuren syndrome chromosomal region 8 protein 602909 CPETR, CPETR1 NA 9334247, 9892664 Standard NM_001305 NM_001305 NA Approved CPE-R, WBSCR8, hCPE-R uc003tzi.4 O14493 OTTHUMG00000023425 ENST00000435050.1:c.*300A>G chr7.hg19:g.73246461A>G NA hg19 CCDS5560.1 0.02 19.049274 GATxGCT COVERED NOVEL CLDN4-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000348030.1 2 7.625125 KEEP 0 3 102 61 1868 AA 1 1 0 + 23 60 844 0 0 56.274353 414 60 14694 604 ENST00000435050.1 0.052632 1 CLDN4 1364 __UNKNOWN__ __UNKNOWN__ 7 73246496 73246496 __UNKNOWN__ 3'UTR SNP C C T rs1127156 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:73246496C>T ENST00000435050.1 + 0 3645 CLDN4_ENST00000340958.2_3'UTR|CLDN4_ENST00000431918.1_3'UTR O14493 CLD4_HUMAN claudin 4 NA NA calcium-independent cell-cell adhesion (GO:0016338)|establishment of skin barrier (GO:0061436)|female pregnancy (GO:0007565)|response to progesterone (GO:0032570)|signal transduction (GO:0007165) apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basal plasma membrane (GO:0009925)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923) identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)|transmembrane signaling receptor activity (GO:0004888) kidney(2)|lung(4)|urinary_tract(1) 7 Lung NSC(55;0.159) CCTGCATCGGCGTTGGCCACT 0.582 NA T||| 2909 0.580871 0.4629 0.6124 5008 , , NA 19340 0.5804 NA 0.7256 False NA ,,, NA NA NA 2504 0.5695 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB000712 CCDS5560.1 7q11.23 2008-07-18 ENSG00000189143 ENSG00000189143 1364 Claudins 2046 protein-coding gene gene with protein product Clostridium perfringens enterotoxin receptor 1, Williams-Beuren syndrome chromosomal region 8 protein 602909 CPETR, CPETR1 NA 9334247, 9892664 Standard NM_001305 NM_001305 NA Approved CPE-R, WBSCR8, hCPE-R uc003tzi.4 O14493 OTTHUMG00000023425 ENST00000435050.1:c.*335C>T chr7.hg19:g.73246496C>T NA hg19 CCDS5560.1 0.02 19.262677 CGGxGTT COVERED NOVEL CLDN4-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000348030.1 1 15.179543 KEEP 0 1 33 62 2147 CC 1 1 0 + 23 60 820 0 0 53.135184 447 60 15708 649 ENST00000435050.1 0.048936 1 CLDN4 1364 __UNKNOWN__ __UNKNOWN__ 7 73246555 73246555 __UNKNOWN__ 3'UTR SNP C C G rs11316 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:73246555C>G ENST00000435050.1 + 0 3704 CLDN4_ENST00000340958.2_3'UTR|CLDN4_ENST00000431918.1_3'UTR O14493 CLD4_HUMAN claudin 4 NA NA calcium-independent cell-cell adhesion (GO:0016338)|establishment of skin barrier (GO:0061436)|female pregnancy (GO:0007565)|response to progesterone (GO:0032570)|signal transduction (GO:0007165) apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basal plasma membrane (GO:0009925)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923) identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)|transmembrane signaling receptor activity (GO:0004888) kidney(2)|lung(4)|urinary_tract(1) 7 Lung NSC(55;0.159) CTCCTCTGTTCCGGGTAGGCC 0.582 NA C||| 2737 0.546526 0.3366 0.6052 5008 , , NA 20515 0.5804 NA 0.7247 False NA ,,, NA NA NA 2504 0.5706 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB000712 CCDS5560.1 7q11.23 2008-07-18 ENSG00000189143 ENSG00000189143 1364 Claudins 2046 protein-coding gene gene with protein product Clostridium perfringens enterotoxin receptor 1, Williams-Beuren syndrome chromosomal region 8 protein 602909 CPETR, CPETR1 NA 9334247, 9892664 Standard NM_001305 NM_001305 NA Approved CPE-R, WBSCR8, hCPE-R uc003tzi.4 O14493 OTTHUMG00000023425 ENST00000435050.1:c.*394C>G chr7.hg19:g.73246555C>G NA hg19 CCDS5560.1 0.02 20.857654 GTTxCGG COVERED NOVEL CLDN4-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000348030.1 2 11.407401 KEEP 0 2 75 64 2241 CC 1 1 0 + 16 60 617 0 0 39.028048 454 60 16725 673 ENST00000435050.1 0.034043 1 WBSCR27 155368 __UNKNOWN__ __UNKNOWN__ 7 73249165 73249165 __UNKNOWN__ Missense_Mutation SNP T T A rs13246460 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:73249165T>A ENST00000297873.4 - 6 695 c.646A>T c.(646-648)Agg>Tgg p.R216W NM_152559.2 NP_689772.2 Q8N6F8 WBS27_HUMAN Williams Beuren syndrome chromosome region 27 216 NA R -> W (in Ref. 1; AAN63884, 2; AAQ55828 and 4; AAH30295). {ECO:0000305}. NS(1)|central_nervous_system(1)|lung(2)|prostate(1) 5 Lung NSC(55;0.159) GGATACCACCTCCAGCTCGGA 0.627 NA T||| 2910 0.58107 0.4629 0.6124 5008 , , NA 15582 0.5813 NA 0.7256 False NA ,,, NA NA NA 2504 0.5695 NA NA NA NA 0 T TRP/ARG 2290,2116 597.0+/-388.8 593,1104,506 67 61 63 646 5.2 0.1 7 dbSNP_121 63 6384,2216 708.8+/-405.7 2371,1642,287 yes missense WBSCR27 NM_152559.2 101 2964,2746,793 AA,AT,TT 25.7674,48.0254,33.3077 probably-damaging 216/246 73249165 8674,4332 2203 4300 6503 SO:0001583 missense AF534110 CCDS5561.1 7q11.23 2004-07-05 ENSG00000165171 ENSG00000165171 155368 19068 protein-coding gene gene with protein product 612546 NA Standard NM_152559 NM_152559 NA Approved uc003tzj.2 Q8N6F8 OTTHUMG00000130033 ENST00000297873.4:c.646A>T chr7.hg19:g.73249165T>A ENSP00000297873:p.Arg216Trp NA hg19 CCDS5561.1 0.02 9.068331 ACCxCCA COVERED 1327 0.6076007326007326 227 0.4613821138211382 218 0.6022099447513812 328 0.5734265734265734 554 0.7308707124010554 T 23.8 4.463481 0.84425 0.519746 0.742326 ENSG00000165171 ENST00000297873 T 0.69685 -0.42 5.25 5.25 0.73442 . 1.356490 0.04448 N 0.372109 T 0.00012 0.0000 N 0.22421 0.69 0.46131 P 0.0011200000000000099 D 0.55800 0.973 B 0.43754 0.43 T 0.38972 -0.9636 9 0.37606 T 0.19 -8.7324 11.6685 0.51387 0.0:0.0:0.0:1.0 rs13246460;rs17845919;rs17858895 216 Q8N6F8 WBS27_HUMAN W 216 ENSP00000297873:R216W ENSP00000297873:R216W R - 1 2 WBSCR27 72887101 0.999000 0.42202 0.106000 0.21319 0.330000 0.28571 5.701000 0.68325 2.013000 0.59113 0.449000 0.29647 AGG NOVEL WBSCR27-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252312.1 1 6.286058 KEEP 0 2 57 41 1302 TT 1 1 0 - 13 60 434 0 0 27.516716 236 60 8295 358 ENST00000297873.4 0.052209 1 WBSCR27 155368 __UNKNOWN__ __UNKNOWN__ 7 73255647 73255647 __UNKNOWN__ Intron SNP G G C rs4717823 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:73255647G>C ENST00000297873.4 - 3 173 NM_152559.2 NP_689772.2 Q8N6F8 WBS27_HUMAN Williams Beuren syndrome chromosome region 27 NA NA NS(1)|central_nervous_system(1)|lung(2)|prostate(1) 5 Lung NSC(55;0.159) AAGCCTGGCTGGGGCTAGCGT 0.607 NA G||| 2694 0.537939 0.3048 0.6023 5008 , , NA 16089 0.5823 NA 0.7247 False NA ,,, NA NA NA 2504 0.5695 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF534110 CCDS5561.1 7q11.23 2004-07-05 ENSG00000165171 ENSG00000165171 155368 19068 protein-coding gene gene with protein product 612546 NA Standard NM_152559 NM_152559 NA Approved uc003tzj.2 Q8N6F8 OTTHUMG00000130033 ENST00000297873.4:c.124-119C>G chr7.hg19:g.73255647G>C NA hg19 CCDS5561.1 0.02 4.274669 GCTxGGG COVERED NOVEL WBSCR27-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252312.1 0 7.825126 KEEP 0 0 0 26 898 GG 0.999957 0.999957 0 - 14 60 467 0 0 33.769485 123 60 4452 184 ENST00000297873.4 0.10219 1 ELN 2006 __UNKNOWN__ __UNKNOWN__ 7 73449846 73449846 __UNKNOWN__ Intron SNP G G A rs17146001 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:73449846G>A ENST00000252034.7 + 2 532 ELN_ENST00000429192.1_Intron|ELN_ENST00000380584.4_Intron|ELN_ENST00000380575.4_Intron|ELN_ENST00000414324.1_Intron|ELN_ENST00000380576.5_Intron|ELN_ENST00000380562.4_Intron|ELN_ENST00000357036.5_Intron|ELN_ENST00000380553.4_Intron|ELN_ENST00000458204.1_Intron|ELN_ENST00000445912.1_Intron|ELN_ENST00000320492.7_Intron|ELN_ENST00000320399.6_Intron|ELN_ENST00000358929.4_Intron NM_000501.2|NM_001278915.1 NP_000492.2|NP_001265844.1 P15502 ELN_HUMAN elastin NA NA blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149) elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578) extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1) 32 Lung NSC(55;0.159) ACATTGACACGCCTACCAGAA 0.418 NA T PAX5 B-ALL Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome A||| 761 0.151957 0.2186 0.1023 5008 , , NA 21795 0.2331 NA 0.0517 False NA ,,, NA NA NA 2504 0.1166 NA NA NA Dom yes 7 7q11.23 2006 elastin yes L 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1 7q11.1-q21.1 2008-08-01 2008-08-01 ENSG00000049540 ENSG00000049540 2006 3327 protein-coding gene gene with protein product tropoelastin, supravalvular aortic stenosis, Williams-Beuren syndrome 130160 NA 8096434 Standard NM_000501 NM_001278939 NA Approved WBS, WS, SVAS uc003tzn.3 P15502 OTTHUMG00000150229 ENST00000252034.7:c.133+102G>A chr7.hg19:g.73449846G>A NA B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5 hg19 CCDS5562.2 0.02 10.495738 CACxCCT COVERED NOVEL ELN-002 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000316913.1 3 20.785231 KEEP 0 1 28 79 2720 GG 1 1 0 + 9 60 302 0 0 17.123118 281 60 10137 470 ENST00000252034.7 0.031034 1 ELN 2006 __UNKNOWN__ __UNKNOWN__ 7 73452140 73452140 __UNKNOWN__ Intron SNP G G A rs2301995 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:73452140G>A ENST00000252034.7 + 4 595 ELN_ENST00000429192.1_Intron|ELN_ENST00000380584.4_Intron|ELN_ENST00000380575.4_Intron|ELN_ENST00000414324.1_Intron|ELN_ENST00000380576.5_Intron|ELN_ENST00000380562.4_Intron|ELN_ENST00000357036.5_Intron|ELN_ENST00000380553.4_Intron|ELN_ENST00000458204.1_Intron|ELN_ENST00000445912.1_Intron|ELN_ENST00000320492.7_Intron|ELN_ENST00000320399.6_Intron|ELN_ENST00000358929.4_Intron NM_000501.2|NM_001278915.1 NP_000492.2|NP_001265844.1 P15502 ELN_HUMAN elastin NA NA blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149) elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578) extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1) 32 Lung NSC(55;0.159) ACCCAGCTGGGAATGGGACAA 0.602 NA T PAX5 B-ALL Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome G||| 774 0.154553 0.2284 0.1023 5008 , , NA 19786 0.2331 NA 0.0517 False NA ,,, NA NA NA 2504 0.1166 NA NA NA Dom yes 7 7q11.23 2006 elastin yes L 0 G ,,,, 283,1101 21,241,430 27 27 27 ,,,, -6.1 0 7 dbSNP_100 27 198,2984 7,184,1400 no intron,intron,intron,intron,intron ELN NM_000501.2,NM_001081752.1,NM_001081753.1,NM_001081754.1,NM_001081755.1 ,,,, 28,425,1830 AA,AG,GG 6.2225,20.448,10.5344 ,,,, ,,,, 73452140 481,4085 692 1591 2283 SO:0001627 intron_variant CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1 7q11.1-q21.1 2008-08-01 2008-08-01 ENSG00000049540 ENSG00000049540 2006 3327 protein-coding gene gene with protein product tropoelastin, supravalvular aortic stenosis, Williams-Beuren syndrome 130160 NA 8096434 Standard NM_000501 NM_001278939 NA Approved WBS, WS, SVAS uc003tzn.3 P15502 OTTHUMG00000150229 ENST00000252034.7:c.196+71G>A chr7.hg19:g.73452140G>A NA B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5 hg19 CCDS5562.2 0.02 1.745905 TGGxAAT COVERED NOVEL ELN-002 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000316913.1 0 4.814441 KEEP 0 0 0 16 522 GG 0.997832 0.997762 0 + 5 60 177 0 0 11.559083 91 60 3346 117 ENST00000252034.7 0.052083 0.99993 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 73497196 73497196 __UNKNOWN__ IGR SNP G G A rs6460071 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:73497196G>A NA NA ELN (12959 upstream) : LIMK1 (66 downstream) NA NA NA ctttgcagacGTGCCTAGACC 0.517 NA A||| 1055 0.210663 0.5129 0.1023 5008 , , NA 20432 0.0794 NA 0.1183 False NA ,,, NA NA NA 2504 0.1094 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.73497196G>A NA hg19 0.02 1.842925 GACxTGC COVERED NOVEL 0 2 4.514079 KEEP 0 0 0 15 495 GG 0.99649 0.996114 0 4 60 142 0 0 9.108656 81 60 2641 114 0.047059 0.999622 LIMK1 3984 __UNKNOWN__ __UNKNOWN__ 7 73533503 73533503 __UNKNOWN__ Intron SNP G G A rs2356528 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:73533503G>A ENST00000418310.1 + 14 1759 LIMK1_ENST00000336180.2_Intron|LIMK1_ENST00000538333.3_Intron P53667 LIMK1_HUMAN LIM domain kinase 1 NA NA actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|nervous system development (GO:0007399)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of axon extension (GO:0045773)|positive regulation of stress fiber assembly (GO:0051496)|protein phosphorylation (GO:0006468)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634) ATP binding (GO:0005524)|heat shock protein binding (GO:0031072)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 21 Lung NSC(55;0.137) Dabrafenib(DB08912) gtgagccaccgtgcccggccA 0.552 NA G||| 654 0.130591 0.0915 0.0893 5008 , , NA 17328 0.1022 NA 0.1322 False NA ,,, NA NA NA 2504 0.2403 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D26309 CCDS5563.1, CCDS56491.1 7q11.23 2005-01-21 ENSG00000106683 ENSG00000106683 3984 6613 protein-coding gene gene with protein product 601329 NA 8673124, 8812460 Standard NM_002314 NM_002314 NA Approved LIMK uc003uaa.2 P53667 OTTHUMG00000023448 ENST00000418310.1:c.1658-1410G>A chr7.hg19:g.73533503G>A NA B7Z6I8|D3DXF4|D3DXF5|O15283|Q15820|Q15821|Q75MU3|Q9Y5Q1 hg19 0.02 -0.096504 ACCxTGC UNCOVERED NOVEL LIMK1-002 PUTATIVE not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000348344.1 6 2.702758 KEEP 0 0 0 9 286 GG 0.99254 0.119538 0 + 2 60 79 0 0 6.589312 9 60 320 26 ENST00000418310.1 0.181818 0.120436 GTF2IRD1 9569 __UNKNOWN__ __UNKNOWN__ 7 73922613 73922613 __UNKNOWN__ Intron SNP T T C rs2074660 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:73922613T>C ENST00000476977.1 + 2 1814 GTF2IRD1_ENST00000455841.2_Intron|GTF2IRD1_ENST00000424337.2_Intron|GTF2IRD1_ENST00000489094.1_Intron|GTF2IRD1_ENST00000265755.3_Intron Q9UHL9 GT2D1_HUMAN GTF2I repeat domain containing 1 NA NA multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transition between slow and fast fiber (GO:0014886) cytoplasm (GO:0005737)|nucleus (GO:0005634) DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700) NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 CTACCTCAGCTACTCGAAGGA 0.562 NA C||| 1203 0.240216 0.2995 0.2032 5008 , , NA 19412 0.4623 NA 0.0726 False NA ,,, NA NA NA 2504 0.1299 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF151354 CCDS5571.1, CCDS47613.1, CCDS56492.1 7q11.23 2008-04-18 2002-01-14 ENSG00000006704 ENSG00000006704 9569 4661 protein-coding gene gene with protein product binding factor for early enhancer 604318 GTF2I repeat domain-containing 1 WBSCR11 NA 9774679, 10198167 Standard NM_016328 NM_016328 NA Approved MusTRD1, RBAP2, GTF3, WBSCR12, BEN, Cream1 uc010lbq.3 Q9UHL9 OTTHUMG00000023782 ENST00000476977.1:c.123+80T>C chr7.hg19:g.73922613T>C NA O95444|Q6DSU6|Q75MX7|Q86UM3|Q8WVC4|Q9UHK8|Q9UI91 hg19 0.02 16.571522 AGCxACT COVERED NOVEL GTF2IRD1-003 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000351531.1 3 17.12388 KEEP 0 0 0 57 1762 TT 1 1 0 + 13 60 506 0 0 32.193557 368 60 13092 539 ENST00000476977.1 0.034121 1 GTF2IRD1 9569 __UNKNOWN__ __UNKNOWN__ 7 73922677 73922677 __UNKNOWN__ Intron SNP C C G rs10269478 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:73922677C>G ENST00000476977.1 + 2 1814 GTF2IRD1_ENST00000455841.2_Intron|GTF2IRD1_ENST00000424337.2_Intron|GTF2IRD1_ENST00000489094.1_Intron|GTF2IRD1_ENST00000265755.3_Intron Q9UHL9 GT2D1_HUMAN GTF2I repeat domain containing 1 NA NA multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transition between slow and fast fiber (GO:0014886) cytoplasm (GO:0005737)|nucleus (GO:0005634) DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700) NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 GCCACGATGCCTGCATCAAGG 0.532 NA C||| 1194 0.238419 0.2973 0.1988 5008 , , NA 19158 0.4623 NA 0.0706 False NA ,,, NA NA NA 2504 0.1288 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF151354 CCDS5571.1, CCDS47613.1, CCDS56492.1 7q11.23 2008-04-18 2002-01-14 ENSG00000006704 ENSG00000006704 9569 4661 protein-coding gene gene with protein product binding factor for early enhancer 604318 GTF2I repeat domain-containing 1 WBSCR11 NA 9774679, 10198167 Standard NM_016328 NM_016328 NA Approved MusTRD1, RBAP2, GTF3, WBSCR12, BEN, Cream1 uc010lbq.3 Q9UHL9 OTTHUMG00000023782 ENST00000476977.1:c.123+144C>G chr7.hg19:g.73922677C>G NA O95444|Q6DSU6|Q75MX7|Q86UM3|Q8WVC4|Q9UHK8|Q9UI91 hg19 0.02 8.788928 TGCxTGC COVERED NOVEL GTF2IRD1-003 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000351531.1 0 8.427241 KEEP 0 0 0 28 991 CC 0.999997 0.999997 0 + 8 60 288 0 0 18.022082 193 60 7242 245 ENST00000476977.1 0.039801 1 GTF2I 2969 __UNKNOWN__ __UNKNOWN__ 7 74114847 74114847 __UNKNOWN__ Intron SNP T T C rs2301907 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:74114847T>C ENST00000324896.4 + 5 946 GTF2I_ENST00000416070.1_Intron|AC083884.8_ENST00000594967.1_RNA|AC083884.8_ENST00000450426.2_RNA|GTF2I_ENST00000353920.4_Intron|GTF2I_ENST00000346152.4_Intron|GTF2I_ENST00000443166.1_Intron|AC083884.8_ENST00000434256.1_RNA NM_032999.2 NP_127492.1 P78347 GTF2I_HUMAN general transcription factor IIi NA NA negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367) cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700) NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 19 ttttaaaatttatatttaaCA 0.269 NA C||| 807 0.161142 0.1604 0.1657 5008 , , NA 19200 0.0635 NA 0.2207 False NA ,,, NA NA NA 2504 0.1984 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U77948 CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1 7q11.23 2011-05-25 2009-07-23 ENSG00000263001 2969 General transcription factors 4659 protein-coding gene gene with protein product 601679 general transcription factor II, i WBSCR6 NA 9334314, 9012831 Standard NM_032999 NM_032999 NA Approved TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291 uc003uau.3 P78347 ENST00000324896.4:c.557+87T>C chr7.hg19:g.74114847T>C NA O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4 hg19 CCDS5573.1 0.02 6.208038 ATTxATA COVERED NOVEL GTF2I-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000252708.1 2 7.517892 KEEP 0 0 0 25 711 TT 0.999931 0.999931 0 + 7 60 248 0 0 15.548757 159 60 5595 198 ENST00000324896.4 0.042169 1 HIP1 3092 __UNKNOWN__ __UNKNOWN__ 7 75168764 75168764 __UNKNOWN__ Intron SNP G G T rs3757603 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:75168764G>T ENST00000434438.2 - 28 2820 HIP1_ENST00000336926.6_Intron NM_001243198.1 NP_001230127.1 O00291 HIP1_HUMAN huntingtin interacting protein 1 NA NA activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634) clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200) breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 GTAAGGGAAAGTAAGTGGGAT 0.418 NA T PDGFRB CMML g||| 1311 0.261781 0.1528 0.4207 5008 , , NA 20136 0.4623 NA 0.1421 False NA ,,, NA NA NA 2504 0.2127 NA NA NA Dom yes 7 7q11.23 3092 huntingtin interacting protein 1 L 0 G 585,3821 259.2+/-262.9 36,513,1654 133 134 134 0.5 0 7 dbSNP_107 134 1335,7265 262.1+/-284.2 106,1123,3071 no intron HIP1 NM_005338.5 142,1636,4725 TT,TG,GG 15.5233,13.2773,14.7624 75168764 1920,11086 2203 4300 6503 SO:0001627 intron_variant AF052288 CCDS34669.1, CCDS59060.1 7q11.23 2008-07-18 ENSG00000127946 ENSG00000127946 3092 4913 protein-coding gene gene with protein product 601767 NA 9140394, 9147654 Standard NM_005338 NM_005338 NA Approved ILWEQ uc003uds.2 O00291 OTTHUMG00000156050 ENST00000434438.2:c.2800-13C>A chr7.hg19:g.75168764G>T NA B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4 hg19 CCDS59060.1 0.02 13.300182 AAAxTAA COVERED NOVEL HIP1-002 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000342864.2 3 21.368275 KEEP 0 0 0 71 2527 GG 1 1 0 - 20 60 709 0 0 47.296055 325 60 12152 510 ENST00000434438.2 0.057971 1 HIP1 3092 __UNKNOWN__ __UNKNOWN__ 7 75168788 75168788 __UNKNOWN__ Intron SNP G G T rs3757602 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:75168788G>T ENST00000434438.2 - 28 2820 HIP1_ENST00000336926.6_Intron NM_001243198.1 NP_001230127.1 O00291 HIP1_HUMAN huntingtin interacting protein 1 NA NA activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634) clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200) breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 CTCTTAATCAGCTCTCAGAGA 0.428 NA T PDGFRB CMML g||| 1311 0.261781 0.1528 0.4222 5008 , , NA 18804 0.4613 NA 0.1421 False NA ,,, NA NA NA 2504 0.2127 NA NA NA Dom yes 7 7q11.23 3092 huntingtin interacting protein 1 L 0 G 585,3821 258.6+/-262.5 36,513,1654 79 81 81 0.4 0 7 dbSNP_107 81 1335,7265 260.8+/-283.4 105,1125,3070 no intron HIP1 NM_005338.5 141,1638,4724 TT,TG,GG 15.5233,13.2773,14.7624 75168788 1920,11086 2203 4300 6503 SO:0001627 intron_variant AF052288 CCDS34669.1, CCDS59060.1 7q11.23 2008-07-18 ENSG00000127946 ENSG00000127946 3092 4913 protein-coding gene gene with protein product 601767 NA 9140394, 9147654 Standard NM_005338 NM_005338 NA Approved ILWEQ uc003uds.2 O00291 OTTHUMG00000156050 ENST00000434438.2:c.2800-37C>A chr7.hg19:g.75168788G>T NA B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4 hg19 CCDS59060.1 0.02 10.522075 TCAxCTC COVERED NOVEL HIP1-002 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000342864.2 2 14.447127 KEEP 0 0 0 48 1714 GG 1 1 0 - 15 60 540 0 0 36.445659 238 60 8772 338 ENST00000434438.2 0.059289 1 RHBDD2 57414 __UNKNOWN__ __UNKNOWN__ 7 75518020 75518020 __UNKNOWN__ 3'UTR SNP G G A rs7223 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:75518020G>A ENST00000006777.6 + 0 1583 RHBDD2_ENST00000428119.1_3'UTR|RHBDD2_ENST00000318622.4_3'UTR NM_001040456.1 NP_001035546.1 Q6NTF9 RHBD2_HUMAN rhomboid domain containing 2 NA NA Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471) serine-type endopeptidase activity (GO:0004252) kidney(1)|lung(4)|prostate(1) 6 TGGCTGTGCCGTGCTCGTGGT 0.617 NA G||| 977 0.195088 0.0461 0.2305 5008 , , NA 18174 0.247 NA 0.2823 False NA ,,, NA NA NA 2504 0.228 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF226732 CCDS43602.1, CCDS43603.1 7q11 2008-09-04 2006-02-22 2006-02-22 ENSG00000005486 ENSG00000005486 57414 23082 protein-coding gene gene with protein product 615203 rhomboid, veinlet-like 7 (Drosophila) RHBDL7 NA 12838346 Standard NM_020684 XM_005250511 NA Approved NPD007 uc003udw.1 Q6NTF9 OTTHUMG00000156435 ENST00000006777.6:c.*353G>A chr7.hg19:g.75518020G>A NA Q7L534|Q9H5W6|Q9HBK7|Q9UDT2 hg19 CCDS43602.1 0.02 12.691643 GCCxTGC COVERED NOVEL RHBDD2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000344176.1 2 23.107691 KEEP 0 1 32 88 3022 GG 1 1 0 + 10 60 343 0 0 19.701428 325 60 11126 506 ENST00000006777.6 0.029851 1 POR 5447 __UNKNOWN__ __UNKNOWN__ 7 75609677 75609677 __UNKNOWN__ Silent SNP A A G rs1135612 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:75609677A>G ENST00000461988.1 + 5 492 c.387A>G c.(385-387)ccA>ccG p.P129P POR_ENST00000394893.1_Silent_p.P129P|POR_ENST00000545601.1_5'UTR|POR_ENST00000475509.1_3'UTR|POR_ENST00000419840.1_5'UTR NM_000941.2 NP_000932.3 P16435 NCPR_HUMAN P450 (cytochrome) oxidoreductase 126 Flavodoxin-like. {ECO:0000255|PROSITE- ProRule:PRU00088}. NA carnitine metabolic process (GO:0009437)|cellular organofluorine metabolic process (GO:0090346)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to peptide hormone stimulus (GO:0071375)|demethylation (GO:0070988)|fatty acid oxidation (GO:0019395)|flavonoid metabolic process (GO:0009812)|internal peptidyl-lysine acetylation (GO:0018393)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of lipase activity (GO:0060192)|nitrate catabolic process (GO:0043602)|nitric oxide catabolic process (GO:0046210)|oxidation-reduction process (GO:0055114)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|response to drug (GO:0042493)|response to nutrient (GO:0007584) endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739) cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|hydrolase activity (GO:0016787)|iron ion binding (GO:0005506)|iron-cytochrome-c reductase activity (GO:0047726)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric oxide dioxygenase activity (GO:0008941) central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1) 9 Benzphetamine(DB00865)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Ethylmorphine(DB01466)|Flavin adenine dinucleotide(DB03147)|Lipoic Acid(DB00166)|Mitomycin(DB00305)|Nilutamide(DB00665)|Nitrofurantoin(DB00698) GCAGCCTGCCAGAGATCGACA 0.627 NA A||| 1249 0.249401 0.0552 0.4035 5008 , , NA 18095 0.4504 NA 0.2445 False NA ,,, NA NA NA 2504 0.2004 NA NA NA NA 0 A 313,3791 20,273,1759 53 59 57 387 -9.6 0 7 dbSNP_86 57 2101,6263 264,1573,2345 yes coding-synonymous POR NM_000941.2 284,1846,4104 GG,GA,AA 25.1196,7.6267,19.3616 129/681 75609677 2414,10054 2052 4182 6234 SO:0001819 synonymous_variant AF258341 CCDS5579.1 7q11.2 2006-12-05 ENSG00000127948 ENSG00000127948 5447 9208 protein-coding gene gene with protein product 124015 NA 2516426 Standard NM_000941 NM_000941 NA Approved CYPOR, FLJ26468 uc003udy.3 P16435 OTTHUMG00000130413 ENST00000461988.1:c.387A>G chr7.hg19:g.75609677A>G NA Q16455|Q197M5|Q8N181|Q9H3M8|Q9UDT3 hg19 CCDS5579.1 0.02 12.398968 GCCxGAG COVERED 623 0.28525641025641024 26 0.052845528455284556 143 0.39502762430939226 255 0.4458041958041958 199 0.262532981530343 A 0.957 -0.704665 0.03255 0.076267 0.251196 ENSG00000127948 ENST00000447222 . . . 4.81 -9.62 0.00547 . . . . . T 0.00012 0.0000 . . . 0.09310 P 0.9999999999999194 . . . . . . T 0.28038 -1.0056 3 . . . -13.7498 0.1049 0.00051 0.2682:0.2151:0.1846:0.3322 rs1135612;rs2228102;rs2286818;rs3178962;rs3198391;rs11540671;rs12669302;rs61690444 . . . G 102 . . R + 1 2 POR 75447613 0.000000 0.05858 0.000000 0.03702 0.082000 0.17680 -5.483000 0.00119 -3.832000 0.00101 -1.215000 0.01618 AGA NOVEL POR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252796.7 1 24.94366 KEEP 0 2 69 107 3352 AA 1 1 0 + 11 60 366 0 0 21.08439 312 60 11252 542 ENST00000461988.1 0.034056 1 TMEM120A 83862 __UNKNOWN__ __UNKNOWN__ 7 75617664 75617664 __UNKNOWN__ RNA SNP G G A rs116954540 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:75617664G>A ENST00000338761.4 - 0 562 TMEM120A_ENST00000493111.2_RNA Q9BXJ8 T120A_HUMAN transmembrane protein 120A NA NA integral component of membrane (GO:0016021) NA GTCACCCTGCGGAGGGAGGGG 0.647 NA G||| 75 0.014976 0.0015 0.0101 5008 , , NA 12641 0.0407 NA 0.0199 False NA ,,, NA NA NA 2504 0.0051 NA NA NA NA 0 G 23,3955 0,23,1966 64 67 66 0.2 0 7 dbSNP_132 66 158,8172 1,156,4008 no intron TMEM120A NM_031925.2 1,179,5974 AA,AG,GG 1.8968,0.5782,1.4706 75617664 181,12127 1989 4165 6154 AF327923 CCDS64688.1 7q11.23 2009-11-06 ENSG00000189077 ENSG00000189077 83862 21697 protein-coding gene gene with protein product NA Standard NM_031925 NM_031925 NA Approved TMPIT, NET29 uc003ued.3 Q9BXJ8 OTTHUMG00000156620 ENST00000338761.4: chr7.hg19:g.75617664G>A NA Q86TE9|Q8N6P1 hg19 0.02 6.657626 TGCxGAG COVERED NOVEL TMEM120A-001 KNOWN basic processed_transcript NA polymorphic_pseudogene OTTHUMT00000344834.4 2 16.183591 KEEP 0 1 32 65 2213 GG 1 1 0 - 7 60 262 0 0 16.6425 176 60 6256 310 ENST00000338761.4 0.038251 1 STYXL1 51657 __UNKNOWN__ __UNKNOWN__ 7 75630274 75630274 __UNKNOWN__ Silent SNP T T C rs8565 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:75630274T>C ENST00000451157.1 - 8 913 c.744A>G c.(742-744)caA>caG p.Q248Q STYXL1_ENST00000431581.1_Silent_p.Q248Q|STYXL1_ENST00000359697.3_Silent_p.Q248Q|STYXL1_ENST00000360591.3_3'UTR|STYXL1_ENST00000340062.5_Silent_p.Q152Q|STYXL1_ENST00000248600.1_Silent_p.Q248Q Q9Y6J8 STYL1_HUMAN serine/threonine/tyrosine interacting-like 1 248 Tyrosine-protein phosphatase. NA intracellular signal transduction (GO:0035556)|protein dephosphorylation (GO:0006470) protein tyrosine/serine/threonine phosphatase activity (GO:0008138) endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 10 GGCTGATACCTTGGGTGGAAA 0.572 NA T||| 3124 0.623802 0.5953 0.6671 5008 , , NA 21036 0.5585 NA 0.7127 False NA ,,, NA NA NA 2504 0.6074 NA NA NA NA 0 T 2759,1647 659.5+/-400.6 862,1035,306 144 120 129 744 2.8 0.7 7 dbSNP_52 129 6275,2325 705.6+/-405.5 2272,1731,297 no coding-synonymous STYXL1 NM_016086.2 3134,2766,603 CC,CT,TT 27.0349,37.3808,30.5398 248/314 75630274 9034,3972 2203 4300 6503 SO:0001819 synonymous_variant AF069762 CCDS5580.1 7q11.23 2011-06-09 2005-09-22 2005-09-22 ENSG00000127952 ENSG00000127952 51657 Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases 18165 protein-coding gene gene with protein product dual specificity phosphatase 24 (putative) DUSP24 NA 9757831 Standard NM_016086 NM_016086 NA Approved MK-STYX uc003uel.3 Q9Y6J8 OTTHUMG00000130459 ENST00000451157.1:c.744A>G chr7.hg19:g.75630274T>C NA Q9UBP1|Q9UK06|Q9UK07|Q9UKG2|Q9UKG3 hg19 0.02 16.130695 ACCxTGG COVERED NOVEL STYXL1-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000344823.1 0 18.59046 KEEP 0 1 32 73 2331 TT 1 1 0 - 11 60 419 0 0 25.317767 386 60 14375 583 ENST00000451157.1 0.027708 1 SRRM3 222183 __UNKNOWN__ __UNKNOWN__ 7 75896535 75896535 __UNKNOWN__ Intron SNP C C T rs6974346 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:75896535C>T ENST00000326382.8 + 11 1037 SRRM3_ENST00000464752.1_Intron|SRRM3_ENST00000388802.4_Intron NM_001110199.1 NP_001103669.1 A6NNA2 SRRM3_HUMAN serine/arginine repetitive matrix 3 NA NA NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1) 8 AAGCGGGTGTCCCACGCCGAC 0.642 NA C||| 673 0.134385 0.1551 0.0605 5008 , , NA 11765 0.255 NA 0.1093 False NA ,,, NA NA NA 2504 0.0603 NA NA NA NA 0 C 461,2619 26,409,1105 7 9 9 4.1 1 7 dbSNP_116 9 559,6491 23,513,2989 no intron SRRM3 NM_001110199.1 49,922,4094 TT,TC,CC 7.9291,14.9675,10.0691 75896535 1020,9110 1540 3525 5065 SO:0001627 intron_variant AK092590 7q11.23 2014-02-12 ENSG00000177679 ENSG00000177679 222183 26729 protein-coding gene gene with protein product NA Standard NM_001110199 NM_001291831 NA Approved FLJ37078 uc010ldi.2 A6NNA2 OTTHUMG00000130489 ENST00000326382.8:c.831-41C>T chr7.hg19:g.75896535C>T NA A6ND75 hg19 0.02 1.810476 TGTxCCA COVERED NOVEL SRRM3-001 KNOWN basic protein_coding NA protein_coding OTTHUMT00000252889.2 0 13.542242 KEEP 0 0 0 45 1530 CC 1 0.999962 0 + 4 60 143 0 0 8.919725 96 60 3575 188 ENST00000326382.8 0.04 0.999962 YWHAG 7532 __UNKNOWN__ __UNKNOWN__ 7 75957644 75957644 __UNKNOWN__ 3'UTR SNP C C A rs1046304 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:75957644C>A ENST00000307630.3 - 0 2216 NM_012479.3 NP_036611.2 P61981 1433G_HUMAN tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma NA NA apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|regulation of neuron differentiation (GO:0045664)|regulation of signal transduction (GO:0009966)|regulation of synaptic plasticity (GO:0048167) cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020) insulin-like growth factor receptor binding (GO:0005159)|poly(A) RNA binding (GO:0044822)|protein kinase C binding (GO:0005080)|protein kinase C inhibitor activity (GO:0008426) endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(1) 8 AATAGGAGTTCAGTGTTTGTT 0.408 NA C||| 1008 0.201278 0.0189 0.3141 5008 , , NA 19034 0.3115 NA 0.2038 False NA ,,, NA NA NA 2504 0.2515 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF142498 CCDS5584.1 7q11.23 2014-06-13 2013-12-03 ENSG00000170027 ENSG00000170027 7532 12852 protein-coding gene gene with protein product 14-3-3 gamma, protein phosphatase 1, regulatory subunit 170 605356 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide NA 10486217, 10433554 Standard NM_012479 NM_012479 NA Approved PPP1R170 uc011kgj.1 P61981 OTTHUMG00000022862 ENST00000307630.3:c.*1250G>T chr7.hg19:g.75957644C>A NA O70457|P35214|Q6FH52|Q9UDP2|Q9UN99 hg19 CCDS5584.1 0.02 6.419742 GTTxAGT COVERED NOVEL YWHAG-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253002.1 2 12.340143 KEEP 0 0 0 41 1441 CC 1 1 0 - 8 60 285 0 0 18.191947 168 60 6252 248 ENST00000307630.3 0.045455 1 YWHAG 7532 __UNKNOWN__ __UNKNOWN__ 7 75959665 75959665 __UNKNOWN__ Intron SNP T T C rs78533137 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:75959665T>C ENST00000307630.3 - 2 310 NM_012479.3 NP_036611.2 P61981 1433G_HUMAN tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma NA NA apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|regulation of neuron differentiation (GO:0045664)|regulation of signal transduction (GO:0009966)|regulation of synaptic plasticity (GO:0048167) cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020) insulin-like growth factor receptor binding (GO:0005159)|poly(A) RNA binding (GO:0044822)|protein kinase C binding (GO:0005080)|protein kinase C inhibitor activity (GO:0008426) endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(1) 8 CAGAAGGAAATTACTTTGTGT 0.498 NA T||| 102 0.0203674 0.0 0.0 5008 , , NA 20353 0.0962 NA 0.0 False NA ,,, NA NA NA 2504 0.0051 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF142498 CCDS5584.1 7q11.23 2014-06-13 2013-12-03 ENSG00000170027 ENSG00000170027 7532 12852 protein-coding gene gene with protein product 14-3-3 gamma, protein phosphatase 1, regulatory subunit 170 605356 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide NA 10486217, 10433554 Standard NM_012479 NM_012479 NA Approved PPP1R170 uc011kgj.1 P61981 OTTHUMG00000022862 ENST00000307630.3:c.88-115A>G chr7.hg19:g.75959665T>C NA O70457|P35214|Q6FH52|Q9UDP2|Q9UN99 hg19 CCDS5584.1 0.02 2.343522 AAAxTAC COVERED NOVEL YWHAG-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253002.1 1 2.708076 KEEP 0 0 0 9 277 TT 0.99254 0.983572 0 - 4 60 154 0 0 10.868482 58 60 2086 78 ENST00000307630.3 0.064516 0.990964 SRCRB4D 0 __UNKNOWN__ __UNKNOWN__ 7 76029695 76029695 __UNKNOWN__ Missense_Mutation SNP C C T rs4728712 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:76029695C>T ENST00000275560.3 - 4 730 c.383G>A c.(382-384)cGc>cAc p.R128H ZP3_ENST00000336517.4_Intron NM_080744.1 NP_542782.1 NA NA autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 21 TTCCTGCCCGCGGCACTCCAC 0.672 NA C||| 947 0.189097 0.0454 0.255 5008 , , NA 14858 0.2421 NA 0.2048 False NA ,,, NA NA NA 2504 0.2658 NA NA NA NA 0 C ,HIS/ARG 377,4029 19,339,1845 27 28 28 ,383 2.5 0.5 7 dbSNP_111 28 1751,6845 188,1375,2735 yes intron,missense ZP3,SRCRB4D NM_007155.5,NM_080744.1 ,29 207,1714,4580 TT,TC,CC 20.3699,8.5565,16.3667 ,possibly-damaging ,128/576 76029695 2128,10874 2203 4298 6501 SO:0001583 missense NA NA NA NA ENST00000275560.3:c.383G>A chr7.hg19:g.76029695C>T ENSP00000275560:p.Arg128His NA hg19 CCDS5585.1 0.02 11.224331 CCGxGGC COVERED 381 0.17445054945054944 22 0.044715447154471545 83 0.2292817679558011 119 0.20804195804195805 157 0.20712401055408972 C 13.93 2.385104 0.42308 0.085565 0.203699 ENSG00000146700 ENST00000275560 T 0.44482 0.92 5.45 2.55 0.30701 Speract/scavenger receptor (2);Speract/scavenger receptor-related (2); 0.381167 0.27155 N 0.020663 T 0.00012 0.0000 L 0.35854 1.095 0.32285 P 0.567124 B 0.10296 0.003 B 0.09377 0.004 T 0.22730 -1.0208 9 0.17832 T 0.49 . 4.0754 0.09901 0.1716:0.5366:0.0:0.2918 rs4728712;rs10353882;rs4728712 128 Q8WTU2 SRB4D_HUMAN H 128 ENSP00000275560:R128H ENSP00000275560:R128H R - 2 0 SRCRB4D 75867631 0.000000 0.05858 0.452000 0.26994 0.995000 0.86356 -0.167000 0.09940 0.748000 0.32831 0.563000 0.77884 CGC NOVEL SRCRB4D-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253001.3 3 37.755147 KEEP 0 1 33 137 4697 CC 1 1 0 - 9 60 330 0 0 20.435986 244 60 8281 502 ENST00000275560.3 0.035573 1 POMZP3 22932 __UNKNOWN__ __UNKNOWN__ 7 76255019 76255019 __UNKNOWN__ Intron SNP T T C rs56046726 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:76255019T>C ENST00000310842.4 - 3 750 POMZP3_ENST00000275569.4_Intron|UPK3B_ENST00000419923.2_Intron|AC004980.7_ENST00000418663.1_RNA|UPK3B_ENST00000443097.2_Intron NM_012230.3 NP_036362.3 Q6PJE2 POZP3_HUMAN POM121 and ZP3 fusion NA NA kidney(3)|lung(2) 5 Myeloproliferative disorder(862;0.204) AAAGACAGGATTCTAGCAGTA 0.403 NA t||| 943 0.188299 0.0408 0.2637 5008 , , NA 20088 0.2272 NA 0.2097 False NA ,,, NA NA NA 2504 0.272 NA NA NA NA 0 T , 370,4036 187.1+/-213.8 18,334,1851 146 136 139 , NA 0 7 dbSNP_129 139 1802,6798 325.4+/-316.9 204,1394,2702 no intron,intron POMZP3 NM_012230.3,NM_152992.2 , 222,1728,4553 CC,CT,TT 20.9535,8.3976,16.7 , , 76255019 2172,10834 2203 4300 6503 SO:0001627 intron_variant U10099 CCDS5590.1, CCDS43606.1 7q11.2 2010-06-24 2010-06-24 ENSG00000146707 ENSG00000146707 22932 9203 protein-coding gene gene with protein product POM-ZP3 fusion protein, POM121/ZP3 fusion protein 600587 POM (POM121 rat homolog) and ZP3 fusion, POM (POM121 homolog, rat) and ZP3 fusion NA 7789967 Standard NM_012230 NM_012230 NA Approved POM-ZP3, POM121 uc003uft.3 Q6PJE2 OTTHUMG00000023514 ENST00000310842.4:c.66-19A>G chr7.hg19:g.76255019T>C NA F6STJ3|Q12903|Q9BWB4 hg19 CCDS43606.1 0.02 11.215209 GGAxTCT COVERED NOVEL POMZP3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000341775.1 5 27.047841 KEEP 0 0 0 90 2871 TT 1 1 0 - 8 60 313 0 0 19.11431 291 60 10467 467 ENST00000310842.4 0.026756 1 POMZP3 22932 __UNKNOWN__ __UNKNOWN__ 7 76255440 76255440 __UNKNOWN__ 5'UTR SNP G G A rs62476698 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:76255440G>A ENST00000310842.4 - 0 626 POMZP3_ENST00000275569.4_5'UTR|UPK3B_ENST00000419923.2_Intron|AC004980.7_ENST00000418663.1_RNA|UPK3B_ENST00000443097.2_Intron NM_012230.3 NP_036362.3 Q6PJE2 POZP3_HUMAN POM121 and ZP3 fusion NA NA kidney(3)|lung(2) 5 Myeloproliferative disorder(862;0.204) GCACACTGTGGGAAGTACCCC 0.552 NA g||| 994 0.198482 0.0794 0.2637 5008 , , NA 19334 0.2272 NA 0.2097 False NA ,,, NA NA NA 2504 0.272 NA NA NA NA 0 32 37 36 NA NA 7 NA 76255440 692 1591 2283 SO:0001623 5_prime_UTR_variant U10099 CCDS5590.1, CCDS43606.1 7q11.2 2010-06-24 2010-06-24 ENSG00000146707 ENSG00000146707 22932 9203 protein-coding gene gene with protein product POM-ZP3 fusion protein, POM121/ZP3 fusion protein 600587 POM (POM121 rat homolog) and ZP3 fusion, POM (POM121 homolog, rat) and ZP3 fusion NA 7789967 Standard NM_012230 NM_012230 NA Approved POM-ZP3, POM121 uc003uft.3 Q6PJE2 OTTHUMG00000023514 ENST00000310842.4:c.-59C>T chr7.hg19:g.76255440G>A NA F6STJ3|Q12903|Q9BWB4 hg19 CCDS43606.1 0.02 32.303982 GTGxGAA COVERED NOVEL POMZP3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000341775.1 10 64.093706 KEEP 47 0 0 213 7599 GG 1 1 0 - 28 49 1001 0 0 61.11601 770 50 28492 1290 ENST00000310842.4 0.035088 1 RP11-467H10.2 0 __UNKNOWN__ __UNKNOWN__ 7 76739462 76739462 __UNKNOWN__ RNA SNP G G A rs6962677 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:76739462G>A ENST00000459742.1 + 0 58 NA NA NA TGCTACCTGTGGAATCAGTGG 0.368 NA G||| 1384 0.276358 0.1853 0.3934 5008 , , NA 18000 0.2937 NA 0.1899 False NA ,,, NA NA NA 2504 0.3875 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000459742.1: chr7.hg19:g.76739462G>A NA hg19 0.02 2.009433 TGTxGAA UNCOVERED NOVEL RP11-467H10.2-001 KNOWN basic|readthrough_transcript processed_transcript NA processed_transcript OTTHUMT00000473089.1 0 4.213435 KEEP 19 0 0 14 469 GG 0 0 0 + 4 27 141 0 0 9.459687 62 40 2144 97 ENST00000459742.1 0.060606 0.994422 CCDC146 57639 __UNKNOWN__ __UNKNOWN__ 7 76796928 76796928 __UNKNOWN__ Intron SNP A A G rs28502738 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:76796928A>G ENST00000285871.4 + 2 116 RP11-467H10.2_ENST00000459742.1_RNA|CCDC146_ENST00000431197.1_Intron NM_020879.2 NP_065930.2 Q8IYE0 CC146_HUMAN coiled-coil domain containing 146 NA NA breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 34 all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205) TTACTTTATAAGTGAAGACAC 0.289 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC029458 CCDS34671.1 7q11.23 2011-09-07 ENSG00000135205 ENSG00000135205 57639 29296 protein-coding gene gene with protein product NA 10819331 Standard NM_020879 NM_020879 NA Approved KIAA1505 uc003uga.3 Q8IYE0 OTTHUMG00000162595 ENST00000285871.4:c.-11-47A>G chr7.hg19:g.76796928A>G NA A8K8X6|Q9P223 hg19 CCDS34671.1 0.02 12.036989 ATAxGTG COVERED NOVEL CCDC146-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000341449.1 3 8.424856 KEEP 1 0 0 28 901 AA 0.999997 0.999997 0 + 33 50 1251 0 0 96.592322 250 60 8903 330 ENST00000285871.4 0.116608 1 CCDC146 57639 __UNKNOWN__ __UNKNOWN__ 7 76891485 76891485 __UNKNOWN__ Missense_Mutation SNP A A G rs1109968 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:76891485A>G ENST00000285871.4 + 9 1161 c.1034A>G c.(1033-1035)aAc>aGc p.N345S CCDC146_ENST00000415740.2_3'UTR|CCDC146_ENST00000431197.1_Missense_Mutation_p.N91S NM_020879.2 NP_065930.2 Q8IYE0 CC146_HUMAN coiled-coil domain containing 146 345 NA N -> S (in dbSNP:rs1109968). {ECO:0000269|PubMed:10819331}. breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 34 all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205) GACAAGCAGAACTACCATGAT 0.388 NA A||| 910 0.181709 0.1082 0.2522 5008 , , NA 20450 0.4206 NA 0.0467 False NA ,,, NA NA NA 2504 0.1237 NA NA NA NA 0 A SER/ASN 397,4009 198.7+/-222.5 21,355,1827 103 103 103 1034 4.6 1 7 dbSNP_86 103 400,8200 126.7+/-185.1 7,386,3907 yes missense CCDC146 NM_020879.2 46 28,741,5734 GG,GA,AA 4.6512,9.0104,6.1279 benign 345/956 76891485 797,12209 2203 4300 6503 SO:0001583 missense BC029458 CCDS34671.1 7q11.23 2011-09-07 ENSG00000135205 ENSG00000135205 57639 29296 protein-coding gene gene with protein product NA 10819331 Standard NM_020879 NM_020879 NA Approved KIAA1505 uc003uga.3 Q8IYE0 OTTHUMG00000162595 ENST00000285871.4:c.1034A>G chr7.hg19:g.76891485A>G ENSP00000285871:p.Asn345Ser NA A8K8X6|Q9P223 hg19 CCDS34671.1 0.02 2.267949 AGAxCTA COVERED 425 0.1945970695970696 66 0.13414634146341464 79 0.21823204419889503 242 0.4230769230769231 38 0.05013192612137203 A 4.588 0.109187 0.08780 0.090104 0.046512 ENSG00000135205 ENST00000285871;ENST00000431197 T;T 0.33865 1.39;1.39 5.78 4.62 0.57501 . 0.487543 0.24970 N 0.034145 T 0.00012 0.0000 N 0.12182 0.205 0.33028 P 0.470233 B;B 0.20052 0.041;0.029 B;B 0.24006 0.019;0.05 T 0.42531 -0.9446 9 0.09084 T 0.74 -26.2991 7.2374 0.26077 0.779:0.1447:0.0763:0.0 rs1109968;rs1109968 91;345 Q8IYE0-2;Q8IYE0 .;CC146_HUMAN S 345;91 ENSP00000285871:N345S;ENSP00000413885:N91S ENSP00000285871:N345S N + 2 0 AC007000.1 76729421 0.997000 0.39634 1.000000 0.80357 0.967000 0.64934 1.375000 0.34295 2.215000 0.71742 0.460000 0.39030 AAC NOVEL CCDC146-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000341449.1 0 5.115941 KEEP 0 0 0 17 551 AA 0.999366 0.998774 0 + 6 60 233 0 0 16.842327 76 60 2771 122 ENST00000285871.4 0.073171 0.999407 CCDC146 57639 __UNKNOWN__ __UNKNOWN__ 7 76891669 76891669 __UNKNOWN__ Intron SNP C C A rs1109969 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:76891669C>A ENST00000285871.4 + 9 1300 CCDC146_ENST00000415740.2_Intron|CCDC146_ENST00000431197.1_Intron NM_020879.2 NP_065930.2 Q8IYE0 CC146_HUMAN coiled-coil domain containing 146 NA NA breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 34 all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205) TCGGTGCTAACTTTTGAAGTA 0.383 NA C||| 910 0.181709 0.1089 0.2522 5008 , , NA 19432 0.4206 NA 0.0467 False NA ,,, NA NA NA 2504 0.1227 NA NA NA NA 0 C 376,4030 172.3+/-202.3 20,336,1847 33 35 35 3 0 7 dbSNP_86 35 396,8204 121.8+/-180.9 8,380,3912 no intron CCDC146 NM_020879.2 28,716,5759 AA,AC,CC 4.6047,8.5338,5.9357 76891669 772,12234 2203 4300 6503 SO:0001627 intron_variant BC029458 CCDS34671.1 7q11.23 2011-09-07 ENSG00000135205 ENSG00000135205 57639 29296 protein-coding gene gene with protein product NA 10819331 Standard NM_020879 NM_020879 NA Approved KIAA1505 uc003uga.3 Q8IYE0 OTTHUMG00000162595 ENST00000285871.4:c.1173+45C>A chr7.hg19:g.76891669C>A NA A8K8X6|Q9P223 hg19 CCDS34671.1 0.02 4.322996 TAAxTTT COVERED NOVEL CCDC146-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000341449.1 1 3.611971 KEEP 0 0 0 12 441 CC 0.993634 0.993632 0 + 6 60 220 0 0 14.543962 113 60 4258 147 ENST00000285871.4 0.05042 0.999999 PTPN12 5782 __UNKNOWN__ __UNKNOWN__ 7 77256713 77256713 __UNKNOWN__ Missense_Mutation SNP A A G rs3750050 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:77256713A>G ENST00000248594.6 + 13 1989 c.1717A>G c.(1717-1719)Aca>Gca p.T573A PTPN12_ENST00000435495.2_Missense_Mutation_p.T443A|PTPN12_ENST00000415482.2_Missense_Mutation_p.T454A NM_002835.3 NP_002826.3 Q05209 PTN12_HUMAN protein tyrosine phosphatase, non-receptor type 12 573 NA T -> A (in dbSNP:rs3750050). {ECO:0000269|PubMed:14702039}. protein dephosphorylation (GO:0006470)|tissue regeneration (GO:0042246) cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|podosome (GO:0002102) non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|SH3 domain binding (GO:0017124) breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 39 ACCAAGTCCTACAACACAAGT 0.403 NA A||| 1828 0.365016 0.2171 0.4366 5008 , , NA 22259 0.6905 NA 0.16 False NA ,,, NA NA NA 2504 0.3896 NA NA NA NA 0 A ALA/THR,ALA/THR,ALA/THR 949,3457 358.6+/-314.5 116,717,1370 167 152 157 1360,1327,1717 -0.4 0 7 dbSNP_107 157 1303,7297 256.8+/-281.1 106,1091,3103 yes missense,missense,missense PTPN12 NM_001131008.1,NM_001131009.1,NM_002835.3 58,58,58 222,1808,4473 GG,GA,AA 15.1512,21.5388,17.3151 benign,benign,benign 454/662,443/651,573/781 77256713 2252,10754 2203 4300 6503 SO:0001583 missense CCDS5592.1, CCDS47619.1, CCDS47620.1 7q11.23 2011-06-09 ENSG00000127947 ENSG00000127947 5782 Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor 9645 protein-coding gene gene with protein product 600079 NA 7509295 Standard NM_002835 NA Approved PTPG1, PTP-PEST uc003ugh.2 Q05209 OTTHUMG00000023501 ENST00000248594.6:c.1717A>G chr7.hg19:g.77256713A>G ENSP00000248594:p.Thr573Ala NA A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4 hg19 CCDS5592.1 0.02 30.278854 CCTxCAA COVERED 749 0.34294871794871795 93 0.18902439024390244 150 0.4143646408839779 387 0.6765734265734266 119 0.15699208443271767 A 4.040 0.005088 0.07866 0.215388 0.151512 ENSG00000127947 ENST00000248594;ENST00000415482;ENST00000543073;ENST00000435495;ENST00000407343 T;T;T;T 0.39997 1.05;1.05;1.05;1.05 6.04 -0.387 0.12463 . 0.428092 0.25765 N 0.028452 T 0.00012 0.0000 L 0.28740 0.885 0.80722 P 0.0 B 0.06786 0.001 B 0.06405 0.002 T 0.42241 -0.9463 9 0.13470 T 0.59 . 1.0381 0.01553 0.4387:0.1514:0.2294:0.1805 rs3750050;rs11540138;rs60753265;rs3750050 573 Q05209 PTN12_HUMAN A 573;454;454;443;81 ENSP00000248594:T573A;ENSP00000392429:T454A;ENSP00000397991:T443A;ENSP00000385079:T81A ENSP00000248594:T573A T + 1 0 PTPN12 77094649 0.000000 0.05858 0.001000 0.08648 0.756000 0.42949 -0.275000 0.08525 -0.319000 0.08652 -1.961000 0.00478 ACA NOVEL PTPN12-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253183.3 6 22.264533 KEEP 0 0 0 74 2294 AA 1 1 0 + 29 60 1119 0 0 74.584566 606 60 21551 826 ENST00000248594.6 0.045669 1 PHTF2 57157 __UNKNOWN__ __UNKNOWN__ 7 77539673 77539673 __UNKNOWN__ Silent SNP C C T rs12673343 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:77539673C>T ENST00000307305.8 + 7 811 c.609C>T c.(607-609)caC>caT p.H203H PHTF2_ENST00000248550.7_Silent_p.H241H|PHTF2_ENST00000415251.2_Silent_p.H203H|PHTF2_ENST00000422959.2_Silent_p.H207H|PHTF2_ENST00000416283.2_Silent_p.H207H|PHTF2_ENST00000450574.1_Silent_p.H207H|PHTF2_ENST00000454592.1_3'UTR|PHTF2_ENST00000275575.7_Silent_p.H203H|PHTF2_ENST00000424760.1_Silent_p.H203H NM_001127358.1 NP_001120830.1 Q8N3S3 PHTF2_HUMAN putative homeodomain transcription factor 2 241 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634) DNA binding (GO:0003677) endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 19 GCACCTCTCACAGCGTTGGCA 0.443 NA C||| 32 0.00638978 0.0 0.0 5008 , , NA 17097 0.0317 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 115 114 114 NA NA 7 NA 77539673 1997 4165 6162 SO:0001819 synonymous_variant AL136883 CCDS47621.1, CCDS47622.1, CCDS47623.1, CCDS47624.1 7q11.23-q21 2008-02-01 ENSG00000006576 ENSG00000006576 57157 13411 protein-coding gene gene with protein product NA 10729229 Standard NM_020432 NM_020432 NA Approved DKFZp434D166 uc003ugq.4 Q8N3S3 OTTHUMG00000155557 ENST00000307305.8:c.609C>T chr7.hg19:g.77539673C>T NA A0JP04|A0JP05|A4D1C2|E9PEE3|G5E9H7|Q6NW35|Q8TBW4|Q9H099 hg19 CCDS47622.1 0.02 9.873224 TCAxAGC COVERED NOVEL PHTF2-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000344297.1 0 15.651468 KEEP 0 0 0 52 1877 CC 1 1 0 + 8 60 289 0 0 17.077242 262 60 10082 403 ENST00000307305.8 0.02963 1 PHTF2 57157 __UNKNOWN__ __UNKNOWN__ 7 77584995 77584995 __UNKNOWN__ 3'UTR SNP G G T rs35005980 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:77584995G>T ENST00000307305.8 + 0 3246 PHTF2_ENST00000248550.7_3'UTR|PHTF2_ENST00000422959.2_3'UTR|PHTF2_ENST00000416283.2_3'UTR|PHTF2_ENST00000275575.7_3'UTR NM_001127358.1 NP_001120830.1 Q8N3S3 PHTF2_HUMAN putative homeodomain transcription factor 2 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634) DNA binding (GO:0003677) endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 19 ATCCTTTTGAGTGAGGTATAT 0.328 NA G||| 546 0.109026 0.1089 0.0879 5008 , , NA 18474 0.0972 NA 0.0527 False NA ,,, NA NA NA 2504 0.1943 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL136883 CCDS47621.1, CCDS47622.1, CCDS47623.1, CCDS47624.1 7q11.23-q21 2008-02-01 ENSG00000006576 ENSG00000006576 57157 13411 protein-coding gene gene with protein product NA 10729229 Standard NM_020432 NM_020432 NA Approved DKFZp434D166 uc003ugq.4 Q8N3S3 OTTHUMG00000155557 ENST00000307305.8:c.*800G>T chr7.hg19:g.77584995G>T NA A0JP04|A0JP05|A4D1C2|E9PEE3|G5E9H7|Q6NW35|Q8TBW4|Q9H099 hg19 CCDS47622.1 0.02 4.368065 TGAxTGA COVERED NOVEL PHTF2-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000344297.1 1 3.009925 KEEP 0 0 0 10 363 GG 0.992708 0.992708 0 + 7 60 265 0 0 17.579687 142 60 5414 181 ENST00000307305.8 0.04698 1 MAGI2 9863 __UNKNOWN__ __UNKNOWN__ 7 77647199 77647199 __UNKNOWN__ 3'UTR SNP C C A rs12055888 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:77647199C>A ENST00000354212.4 - 0 6054 MAGI2_ENST00000419488.1_3'UTR NM_012301.3 NP_036433.2 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 2 NA NA cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395) cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923) beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699) NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) CATTTGAACTCCTGTAAAGAG 0.408 NA C||| 557 0.111222 0.0598 0.1369 5008 , , NA 19832 0.1696 NA 0.1133 False NA ,,, NA NA NA 2504 0.1002 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB014605 CCDS5594.1, CCDS75623.1 7q21 2005-08-09 ENSG00000187391 ENSG00000187391 9863 18957 protein-coding gene gene with protein product 606382 NA 10681527, 9734811 Standard NM_012301 XM_005250725 NA Approved AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2 uc003ugx.3 Q86UL8 OTTHUMG00000130697 ENST00000354212.4:c.*1433G>T chr7.hg19:g.77647199C>A NA A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1 hg19 CCDS5594.1 0.02 6.005514 ACTxCTG COVERED NOVEL MAGI2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253197.3 0 13.240596 KEEP 0 0 0 44 1524 CC 1 1 0 - 7 60 228 0 0 13.799031 148 60 5405 233 ENST00000354212.4 0.045161 1 MAGI2 9863 __UNKNOWN__ __UNKNOWN__ 7 77647322 77647322 __UNKNOWN__ 3'UTR SNP T T C rs4473963 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:77647322T>C ENST00000354212.4 - 0 5931 MAGI2_ENST00000419488.1_3'UTR NM_012301.3 NP_036433.2 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 2 NA NA cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395) cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923) beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699) NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) CAATGGCTAATTAATTGAAGC 0.343 NA T||| 2515 0.502196 0.3555 0.5173 5008 , , NA 19667 0.4435 NA 0.672 False NA ,,, NA NA NA 2504 0.5757 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB014605 CCDS5594.1, CCDS75623.1 7q21 2005-08-09 ENSG00000187391 ENSG00000187391 9863 18957 protein-coding gene gene with protein product 606382 NA 10681527, 9734811 Standard NM_012301 XM_005250725 NA Approved AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2 uc003ugx.3 Q86UL8 OTTHUMG00000130697 ENST00000354212.4:c.*1310A>G chr7.hg19:g.77647322T>C NA A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1 hg19 CCDS5594.1 0.02 6.915225 TAAxTAA COVERED NOVEL MAGI2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253197.3 3 10.532468 KEEP 0 0 0 35 1131 TT 0.999999 0.999999 0 - 14 60 524 0 0 38.269774 151 60 5543 236 ENST00000354212.4 0.084848 1 GNAI1 2770 __UNKNOWN__ __UNKNOWN__ 7 79848272 79848272 __UNKNOWN__ 3'UTR SNP G G A rs17153603 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:79848272G>A ENST00000351004.3 + 0 2901 NM_002069.5 NP_002060.4 P63096 GNAI1_HUMAN guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1 NA NA adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|response to peptide hormone (GO:0043434)|synaptic transmission (GO:0007268) centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886) G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871) NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 19 TCTTGGAAAAGGTTAGTCTTT 0.408 NA A||| 1317 0.262979 0.531 0.1787 5008 , , NA 14328 0.1111 NA 0.2545 False NA ,,, NA NA NA 2504 0.1258 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL049933 CCDS5595.1, CCDS59061.1 7q21-q22 2008-07-18 ENSG00000127955 ENSG00000127955 2770 4384 protein-coding gene gene with protein product Gi1 protein alpha subunit 139310 NA 3110783 Standard NM_002069 NM_002069 NA Approved uc003uhb.1 P63096 OTTHUMG00000023523 ENST00000351004.3:c.*1463G>A chr7.hg19:g.79848272G>A NA A8KA88|B4E2V1|C9J3A4|P04898|P11015|P31871|Q5U074|Q8TAN5|Q9UGA4 hg19 CCDS5595.1 0.02 4.705179 AAAxGTT COVERED NOVEL GNAI1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253254.1 6 8.057296 KEEP 0 1 32 38 1341 GG 1 0.999999 0 + 7 60 270 0 0 18.703923 115 60 4149 193 ENST00000351004.3 0.057377 0.999999 CD36 948 __UNKNOWN__ __UNKNOWN__ 7 80087859 80087859 __UNKNOWN__ Intron SNP T T G rs2074672 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:80087859T>G ENST00000435819.1 + 2 207 P16671 CD36_HUMAN CD36 molecule (thrombospondin receptor) NA NA antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular lipid metabolic process (GO:0044255)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to hydroperoxide (GO:0071447)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cGMP-mediated signaling (GO:0019934)|cholesterol transport (GO:0030301)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|lipid metabolic process (GO:0006629)|lipid storage (GO:0019915)|lipoprotein transport (GO:0042953)|long-chain fatty acid import (GO:0044539)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle mediated signaling (GO:0055096)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitric oxide mediated signal transduction (GO:0007263)|phagocytosis, recognition (GO:0006910)|plasma lipoprotein particle clearance (GO:0034381)|plasma membrane long-chain fatty acid transport (GO:0015911)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood microparticle formation (GO:2000334)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of removal of superoxide radicals (GO:2000121)|response to stilbenoid (GO:0035634)|small molecule metabolic process (GO:0044281)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124) cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092) high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)|lipoprotein particle binding (GO:0071813)|lipoteichoic acid receptor activity (GO:0070892)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|thrombospondin receptor activity (GO:0070053)|transforming growth factor beta binding (GO:0050431) breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1) 21 GGAAAACTTTTTGCTTTACAA 0.299 NA T||| 163 0.0325479 0.031 0.0202 5008 , , NA 16873 0.0734 NA 0.0179 False NA ,,, NA NA NA 2504 0.0164 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Z32770 CCDS34673.1 7q11.2 2010-02-26 2006-03-28 ENSG00000135218 ENSG00000135218 948 CD molecules 1663 protein-coding gene gene with protein product 173510 CD36 antigen (collagen type I receptor, thrombospondin receptor) NA 7503937 Standard NM_001001547 NM_001001548 NA Approved SCARB3, GPIV, FAT, GP4, GP3B uc003uhg.4 P16671 OTTHUMG00000155383 ENST00000435819.1:c.-477-27924T>G chr7.hg19:g.80087859T>G NA D9IX66|D9IX67|D9IX68|D9IX69|Q13966|Q16093|Q8TCV7|Q9BPZ8|Q9BQC2|Q9BZM8|Q9BZN3|Q9BZN4|Q9BZN5 hg19 CCDS34673.1 0.02 6.514264 TTTxTGC COVERED NOVEL CD36-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000339767.6 0 4.81156 KEEP 0 0 0 16 450 TT 0.997832 0.997832 0 + 9 60 342 0 0 22.806642 179 60 6207 205 ENST00000435819.1 0.047872 1 CD36 948 __UNKNOWN__ __UNKNOWN__ 7 80123999 80123999 __UNKNOWN__ Intron SNP T T C rs6975345 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:80123999T>C ENST00000435819.1 + 3 424 GNAT3_ENST00000398291.3_Intron P16671 CD36_HUMAN CD36 molecule (thrombospondin receptor) NA NA antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular lipid metabolic process (GO:0044255)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to hydroperoxide (GO:0071447)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cGMP-mediated signaling (GO:0019934)|cholesterol transport (GO:0030301)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|lipid metabolic process (GO:0006629)|lipid storage (GO:0019915)|lipoprotein transport (GO:0042953)|long-chain fatty acid import (GO:0044539)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle mediated signaling (GO:0055096)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitric oxide mediated signal transduction (GO:0007263)|phagocytosis, recognition (GO:0006910)|plasma lipoprotein particle clearance (GO:0034381)|plasma membrane long-chain fatty acid transport (GO:0015911)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood microparticle formation (GO:2000334)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of removal of superoxide radicals (GO:2000121)|response to stilbenoid (GO:0035634)|small molecule metabolic process (GO:0044281)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124) cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092) high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)|lipoprotein particle binding (GO:0071813)|lipoteichoic acid receptor activity (GO:0070892)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|thrombospondin receptor activity (GO:0070053)|transforming growth factor beta binding (GO:0050431) breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1) 21 TTAACTGATATACCAAATTTG 0.299 NA C||| 1498 0.299121 0.77 0.121 5008 , , NA 17273 0.1339 NA 0.1262 False NA ,,, NA NA NA 2504 0.137 NA NA NA NA 0 C 2301,1273 762,777,248 52 44 46 -5.3 0 7 dbSNP_116 46 969,7139 72,825,3157 no intron GNAT3 NM_001102386.1 834,1602,3405 CC,CT,TT 11.9512,35.6184,27.9918 80123999 3270,8412 1787 4054 5841 SO:0001627 intron_variant Z32770 CCDS34673.1 7q11.2 2010-02-26 2006-03-28 ENSG00000135218 ENSG00000135218 948 CD molecules 1663 protein-coding gene gene with protein product 173510 CD36 antigen (collagen type I receptor, thrombospondin receptor) NA 7503937 Standard NM_001001547 NM_001001548 NA Approved SCARB3, GPIV, FAT, GP4, GP3B uc003uhg.4 P16671 OTTHUMG00000155383 ENST00000435819.1:c.-261+6902T>C chr7.hg19:g.80123999T>C NA D9IX66|D9IX67|D9IX68|D9IX69|Q13966|Q16093|Q8TCV7|Q9BPZ8|Q9BQC2|Q9BZM8|Q9BZN3|Q9BZN4|Q9BZN5 hg19 CCDS34673.1 0.02 4.825458 ATAxACC COVERED NOVEL CD36-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000339767.6 1 5.713904 KEEP 0 0 0 19 552 TT 0.99986 0.999859 0 + 10 60 393 0 0 28.728223 121 60 4286 167 ENST00000435819.1 0.076336 1 CD36 948 __UNKNOWN__ __UNKNOWN__ 7 80285850 80285850 __UNKNOWN__ Intron SNP T T C rs3173798 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:80285850T>C ENST00000435819.1 + 7 804 CD36_ENST00000447544.2_Intron|CD36_ENST00000394788.3_Intron|CD36_ENST00000534394.1_Intron|CD36_ENST00000538969.1_Intron|CD36_ENST00000309881.7_Intron|CD36_ENST00000433696.2_Intron|CD36_ENST00000432207.1_Intron|CD36_ENST00000441109.2_Intron|CD36_ENST00000544133.1_Intron P16671 CD36_HUMAN CD36 molecule (thrombospondin receptor) NA NA antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular lipid metabolic process (GO:0044255)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to hydroperoxide (GO:0071447)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cGMP-mediated signaling (GO:0019934)|cholesterol transport (GO:0030301)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|lipid metabolic process (GO:0006629)|lipid storage (GO:0019915)|lipoprotein transport (GO:0042953)|long-chain fatty acid import (GO:0044539)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle mediated signaling (GO:0055096)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitric oxide mediated signal transduction (GO:0007263)|phagocytosis, recognition (GO:0006910)|plasma lipoprotein particle clearance (GO:0034381)|plasma membrane long-chain fatty acid transport (GO:0015911)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood microparticle formation (GO:2000334)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of removal of superoxide radicals (GO:2000121)|response to stilbenoid (GO:0035634)|small molecule metabolic process (GO:0044281)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124) cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092) high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)|lipoprotein particle binding (GO:0071813)|lipoteichoic acid receptor activity (GO:0070892)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|thrombospondin receptor activity (GO:0070053)|transforming growth factor beta binding (GO:0050431) breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1) 21 ATTTTCTTTTTCATAGCAAGT 0.378 NA T||| 1219 0.243411 0.2284 0.1902 5008 , , NA 17996 0.4216 NA 0.0656 False NA ,,, NA NA NA 2504 0.3006 NA NA NA NA 0 T ,,,, 906,3500 332.3+/-302.4 90,726,1387 64 61 62 ,,,, 2.8 0 7 dbSNP_105 62 575,8025 149.1+/-204.2 19,537,3744 no intron,intron,intron,intron,intron CD36 NM_000072.3,NM_001001547.2,NM_001001548.2,NM_001127443.1,NM_001127444.1 ,,,, 109,1263,5131 CC,CT,TT 6.686,20.5629,11.3871 ,,,, ,,,, 80285850 1481,11525 2203 4300 6503 SO:0001627 intron_variant Z32770 CCDS34673.1 7q11.2 2010-02-26 2006-03-28 ENSG00000135218 ENSG00000135218 948 CD molecules 1663 protein-coding gene gene with protein product 173510 CD36 antigen (collagen type I receptor, thrombospondin receptor) NA 7503937 Standard NM_001001547 NM_001001548 NA Approved SCARB3, GPIV, FAT, GP4, GP3B uc003uhg.4 P16671 OTTHUMG00000155383 ENST00000435819.1:c.121-6T>C chr7.hg19:g.80285850T>C NA D9IX66|D9IX67|D9IX68|D9IX69|Q13966|Q16093|Q8TCV7|Q9BPZ8|Q9BQC2|Q9BZM8|Q9BZN3|Q9BZN4|Q9BZN5 hg19 CCDS34673.1 0.02 22.084161 TTTxCAT COVERED NOVEL CD36-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000339767.6 5 18.352809 KEEP 0 0 0 61 1856 TT 1 1 0 + 18 60 675 0 0 42.424414 483 60 17281 630 ENST00000435819.1 0.035928 1 CD36 948 __UNKNOWN__ __UNKNOWN__ 7 80291398 80291398 __UNKNOWN__ Intron SNP G G A rs1924 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:80291398G>A ENST00000435819.1 + 8 1113 CD36_ENST00000447544.2_Intron|CD36_ENST00000394788.3_Intron|CD36_ENST00000534394.1_Intron|CD36_ENST00000538969.1_Intron|CD36_ENST00000309881.7_Intron|CD36_ENST00000433696.2_Intron|CD36_ENST00000432207.1_Intron|CD36_ENST00000544133.1_Intron P16671 CD36_HUMAN CD36 molecule (thrombospondin receptor) NA NA antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular lipid metabolic process (GO:0044255)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to hydroperoxide (GO:0071447)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cGMP-mediated signaling (GO:0019934)|cholesterol transport (GO:0030301)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|lipid metabolic process (GO:0006629)|lipid storage (GO:0019915)|lipoprotein transport (GO:0042953)|long-chain fatty acid import (GO:0044539)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle mediated signaling (GO:0055096)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitric oxide mediated signal transduction (GO:0007263)|phagocytosis, recognition (GO:0006910)|plasma lipoprotein particle clearance (GO:0034381)|plasma membrane long-chain fatty acid transport (GO:0015911)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood microparticle formation (GO:2000334)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of removal of superoxide radicals (GO:2000121)|response to stilbenoid (GO:0035634)|small molecule metabolic process (GO:0044281)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124) cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092) high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)|lipoprotein particle binding (GO:0071813)|lipoteichoic acid receptor activity (GO:0070892)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|thrombospondin receptor activity (GO:0070053)|transforming growth factor beta binding (GO:0050431) breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1) 21 ATAGAAAACGGAAACACAAAA 0.383 NA A||| 1067 0.213059 0.2625 0.1138 5008 , , NA 17422 0.3026 NA 0.0656 False NA ,,, NA NA NA 2504 0.2761 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Z32770 CCDS34673.1 7q11.2 2010-02-26 2006-03-28 ENSG00000135218 ENSG00000135218 948 CD molecules 1663 protein-coding gene gene with protein product 173510 CD36 antigen (collagen type I receptor, thrombospondin receptor) NA 7503937 Standard NM_001001547 NM_001001548 NA Approved SCARB3, GPIV, FAT, GP4, GP3B uc003uhg.4 P16671 OTTHUMG00000155383 ENST00000435819.1:c.429+872G>A chr7.hg19:g.80291398G>A NA D9IX66|D9IX67|D9IX68|D9IX69|Q13966|Q16093|Q8TCV7|Q9BPZ8|Q9BQC2|Q9BZM8|Q9BZN3|Q9BZN4|Q9BZN5 hg19 CCDS34673.1 0.02 10.440981 ACGxAAA COVERED NOVEL CD36-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000339767.6 0 12.339774 KEEP 0 0 0 41 1441 GG 1 1 0 + 10 60 361 0 0 22.069444 275 60 10047 376 ENST00000435819.1 0.035088 1 SEMA3C 10512 __UNKNOWN__ __UNKNOWN__ 7 80418689 80418689 __UNKNOWN__ Silent SNP A A G rs17275986 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:80418689A>G ENST00000265361.3 - 12 1848 c.1287T>C c.(1285-1287)taT>taC p.Y429Y SEMA3C_ENST00000419255.2_Silent_p.Y429Y|SEMA3C_ENST00000544525.1_Silent_p.Y447Y NM_006379.3 NP_006370.1 Q99985 SEM3C_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C 429 Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}. NA axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) receptor activity (GO:0004872) NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 CTATCTTTGTATACTTGTAGT 0.413 NA A||| 562 0.11222 0.0598 0.1138 5008 , , NA 16412 0.1131 NA 0.1849 False NA ,,, NA NA NA 2504 0.1063 NA NA NA NA 0 A 366,4040 187.8+/-214.3 16,334,1853 202 185 191 1287 2.9 1 7 dbSNP_123 191 1696,6904 310.5+/-309.9 154,1388,2758 no coding-synonymous SEMA3C NM_006379.3 170,1722,4611 GG,GA,AA 19.7209,8.3069,15.8542 429/752 80418689 2062,10944 2203 4300 6503 SO:0001819 synonymous_variant AB000220 CCDS5596.1 7q21-q31 2013-01-11 ENSG00000075223 ENSG00000075223 10512 Semaphorins, Immunoglobulin superfamily / I-set domain containing 10725 protein-coding gene gene with protein product 602645 SEMAE NA 7748561, 9168980 Standard NM_006379 NM_006379 NA Approved SemE uc003uhj.3 Q99985 OTTHUMG00000023447 ENST00000265361.3:c.1287T>C chr7.hg19:g.80418689A>G NA B4DRL8 hg19 CCDS5596.1 0.02 11.718676 TGTxTAC COVERED NOVEL SEMA3C-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253279.1 1 22.564925 KEEP 0 0 0 75 2327 AA 1 1 0 - 10 60 386 0 0 25.089344 243 60 8821 405 ENST00000265361.3 0.039526 1 SEMA3C 10512 __UNKNOWN__ __UNKNOWN__ 7 80434918 80434918 __UNKNOWN__ Intron SNP C C T rs2030924 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:80434918C>T ENST00000265361.3 - 7 1220 SEMA3C_ENST00000536800.1_Intron|SEMA3C_ENST00000419255.2_Intron|SEMA3C_ENST00000544525.1_Intron NM_006379.3 NP_006370.1 Q99985 SEM3C_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C NA NA axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) receptor activity (GO:0004872) NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 TAGTTTAACACGATACTAAAA 0.313 NA C||| 583 0.116414 0.0809 0.1095 5008 , , NA 15173 0.1141 NA 0.1799 False NA ,,, NA NA NA 2504 0.1063 NA NA NA NA 0 C 440,3964 210.2+/-230.7 21,398,1783 57 51 53 -9.5 0 7 dbSNP_94 53 1686,6910 305.2+/-307.3 152,1382,2764 no intron SEMA3C NM_006379.3 173,1780,4547 TT,TC,CC 19.6138,9.9909,16.3538 80434918 2126,10874 2202 4298 6500 SO:0001627 intron_variant AB000220 CCDS5596.1 7q21-q31 2013-01-11 ENSG00000075223 ENSG00000075223 10512 Semaphorins, Immunoglobulin superfamily / I-set domain containing 10725 protein-coding gene gene with protein product 602645 SEMAE NA 7748561, 9168980 Standard NM_006379 NM_006379 NA Approved SemE uc003uhj.3 Q99985 OTTHUMG00000023447 ENST00000265361.3:c.658+36G>A chr7.hg19:g.80434918C>T NA B4DRL8 hg19 CCDS5596.1 0.02 4.364937 ACAxGAT COVERED NOVEL SEMA3C-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253279.1 0 11.134737 KEEP 0 0 0 37 1233 CC 1 1 0 - 10 60 362 0 0 25.400807 128 70 4626 206 ENST00000265361.3 0.072464 1 PCLO 27445 __UNKNOWN__ __UNKNOWN__ 7 82450035 82450035 __UNKNOWN__ Intron SNP A A C rs2715148 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:82450035A>C ENST00000333891.9 - 20 15129 PCLO_ENST00000423517.2_3'UTR NM_033026.5 NP_149015.2 piccolo presynaptic cytomatrix protein NA NA breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TAATAGGCAAAAAACACTGAT 0.289 NA C||| 3260 0.650958 0.7156 0.5893 5008 , , NA 18508 0.8175 NA 0.4801 False NA ,,, NA NA NA 2504 0.6115 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB011131 CCDS47630.1, CCDS47631.1 7q11.23-q21.3 2013-01-07 2013-01-07 ENSG00000186472 ENSG00000186472 27445 13406 protein-coding gene gene with protein product aczonin 604918 piccolo (presynaptic cytomatrix protein) NA 8900486, 9628581 Standard NM_014510 NM_014510 NA Approved KIAA0559, DKFZp779G1236, ACZ uc003uhx.2 Q9Y6V0 OTTHUMG00000154853 ENST00000333891.9:c.14791+1775T>G chr7.hg19:g.82450035A>C NA hg19 CCDS47630.1 0.02 10.865567 CAAxAAA COVERED NOVEL PCLO-001 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000337368.5 0 6.050869 KEEP 0 1 31 31 968 AA 0.999997 0.999997 0 - 13 60 493 0 0 32.624292 269 60 9665 377 ENST00000333891.9 0.046099 1 PCLO 27445 __UNKNOWN__ __UNKNOWN__ 7 82450364 82450364 __UNKNOWN__ Intron SNP A A G rs2522832 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:82450364A>G ENST00000333891.9 - 20 15129 PCLO_ENST00000423517.2_3'UTR NM_033026.5 NP_149015.2 piccolo presynaptic cytomatrix protein NA NA breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TAAAAATTAAAGATGAGAGCT 0.408 NA A||| 2541 0.507388 0.2163 0.5476 5008 , , NA 19026 0.8125 NA 0.4692 False NA ,,, NA NA NA 2504 0.5971 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB011131 CCDS47630.1, CCDS47631.1 7q11.23-q21.3 2013-01-07 2013-01-07 ENSG00000186472 ENSG00000186472 27445 13406 protein-coding gene gene with protein product aczonin 604918 piccolo (presynaptic cytomatrix protein) NA 8900486, 9628581 Standard NM_014510 NM_014510 NA Approved KIAA0559, DKFZp779G1236, ACZ uc003uhx.2 Q9Y6V0 OTTHUMG00000154853 ENST00000333891.9:c.14791+1446T>C chr7.hg19:g.82450364A>G NA hg19 CCDS47630.1 0.02 4.446864 TAAxGAT COVERED NOVEL PCLO-001 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000337368.5 4 6.017553 KEEP 0 0 0 20 642 AA 0.999863 0.999863 0 - 11 60 419 0 0 30.414869 129 60 4673 183 ENST00000333891.9 0.078571 1 PCLO 27445 __UNKNOWN__ __UNKNOWN__ 7 82451558 82451558 __UNKNOWN__ Intron SNP T T G rs1044639 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:82451558T>G ENST00000333891.9 - 20 15129 PCLO_ENST00000426442.2_5'UTR|PCLO_ENST00000423517.2_3'UTR NM_033026.5 NP_149015.2 piccolo presynaptic cytomatrix protein NA NA breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TCAAATGCTATGAGCCAGGTT 0.328 NA T||| 2033 0.40595 0.0424 0.4164 5008 , , NA 18103 0.6845 NA 0.4324 False NA ,,, NA NA NA 2504 0.5757 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB011131 CCDS47630.1, CCDS47631.1 7q11.23-q21.3 2013-01-07 2013-01-07 ENSG00000186472 ENSG00000186472 27445 13406 protein-coding gene gene with protein product aczonin 604918 piccolo (presynaptic cytomatrix protein) NA 8900486, 9628581 Standard NM_014510 NM_014510 NA Approved KIAA0559, DKFZp779G1236, ACZ uc003uhx.2 Q9Y6V0 OTTHUMG00000154853 ENST00000333891.9:c.14791+252A>C chr7.hg19:g.82451558T>G NA hg19 CCDS47630.1 0.02 7.129256 CTAxGAG COVERED NOVEL PCLO-001 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000337368.5 0 12.337371 KEEP 0 0 0 41 1290 TT 1 1 0 - 6 60 229 0 0 14.790438 146 60 5433 243 ENST00000333891.9 0.039474 1 PCLO 27445 __UNKNOWN__ __UNKNOWN__ 7 82455895 82455895 __UNKNOWN__ Intron SNP A A G rs2715150 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:82455895A>G ENST00000333891.9 - 18 14753 PCLO_ENST00000426442.2_Intron|PCLO_ENST00000423517.2_Intron NM_033026.5 NP_149015.2 piccolo presynaptic cytomatrix protein NA NA breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 AAAGGAAGTCAGAGGCTTACC 0.378 NA A||| 2016 0.402556 0.0424 0.4164 5008 , , NA 13776 0.6865 NA 0.4324 False NA ,,, NA NA NA 2504 0.5562 NA NA NA NA 0 A , 385,3319 29,327,1496 117 110 112 , 1.7 0 7 dbSNP_100 112 3450,4742 746,1958,1392 no intron,intron PCLO NM_014510.2,NM_033026.5 , 775,2285,2888 GG,GA,AA 42.1143,10.3942,32.2377 , , 82455895 3835,8061 1852 4096 5948 SO:0001627 intron_variant AB011131 CCDS47630.1, CCDS47631.1 7q11.23-q21.3 2013-01-07 2013-01-07 ENSG00000186472 ENSG00000186472 27445 13406 protein-coding gene gene with protein product aczonin 604918 piccolo (presynaptic cytomatrix protein) NA 8900486, 9628581 Standard NM_014510 NM_014510 NA Approved KIAA0559, DKFZp779G1236, ACZ uc003uhx.2 Q9Y6V0 OTTHUMG00000154853 ENST00000333891.9:c.14415+9T>C chr7.hg19:g.82455895A>G NA hg19 CCDS47630.1 0.02 22.943007 GTCxGAG COVERED NOVEL PCLO-001 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000337368.5 1 12.273097 KEEP 0 1 35 53 1706 AA 1 1 0 - 33 60 1117 0 0 74.35546 484 60 18183 715 ENST00000333891.9 0.06383 1 SEMA3E 9723 __UNKNOWN__ __UNKNOWN__ 7 82996831 82996831 __UNKNOWN__ 3'UTR SNP A A T rs75164403 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:82996831A>T ENST00000307792.3 - 0 2866 SEMA3E_ENST00000427262.1_3'UTR NM_012431.2 NP_036563.1 O15041 SEM3E_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E NA NA axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808) extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020) receptor activity (GO:0004872) breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 51 Medulloblastoma(109;0.109) AAGAAGTTGGATGATTTATTT 0.338 NA A||| 524 0.104633 0.003 0.1527 5008 , , NA 15183 0.1478 NA 0.1292 False NA ,,, NA NA NA 2504 0.138 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB002329 CCDS34674.1, CCDS55121.1 7q21.11 2013-01-11 ENSG00000170381 ENSG00000170381 9723 Semaphorins, Immunoglobulin superfamily / Immunoglobulin-like domain containing 10727 protein-coding gene gene with protein product M-sema H 608166 SEMAH NA 9205841, 9515811 Standard NM_012431 NM_012431 NA Approved M-SemaK, KIAA0331, coll-5 uc003uhy.2 O15041 OTTHUMG00000154693 ENST00000307792.3:c.*71T>A chr7.hg19:g.82996831A>T NA B4E1P1|Q75M94|Q75M97 hg19 CCDS34674.1 0.02 11.702217 TGGxTGA COVERED NOVEL SEMA3E-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000336606.1 3 10.530999 KEEP 0 0 0 35 1096 AA 0.999999 0.999999 0 - 9 60 320 0 0 18.465125 314 60 10939 404 ENST00000307792.3 0.027864 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 84506397 84506397 __UNKNOWN__ IGR SNP A A G rs10265448 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:84506397A>G NA NA AC092022.1 (211073 upstream) : AC074183.4 (62267 downstream) NA NA NA GGGAAGGGGCATATGTAACTA 0.368 NA G||| 611 0.122005 0.1702 0.1974 5008 , , NA 20932 0.2292 NA 0.008 False NA ,,, NA NA NA 2504 0.0102 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.84506397A>G NA hg19 0.02 1.563929 GGCxTAT COVERED NOVEL 0 0 3.911271 KEEP 0 0 0 13 398 AA 0.994391 0.994299 0 4 60 143 0 0 9.027726 90 60 3376 130 0.042553 0.999907 KIAA1324L 222223 __UNKNOWN__ __UNKNOWN__ 7 86567364 86567364 __UNKNOWN__ Intron SNP C C T rs7797095 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:86567364C>T ENST00000416314.1 - 7 784 KIAA1324L_ENST00000444627.1_Intron|KIAA1324L_ENST00000297222.6_Intron|KIAA1324L_ENST00000450689.2_Intron NM_152748.3 NP_689961.3 A8MWY0 K132L_HUMAN KIAA1324-like NA NA integral component of membrane (GO:0016021) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 Esophageal squamous(14;0.0058) ATATCTCTCACGAACAAATTA 0.383 NA C||| 436 0.0870607 0.0545 0.0807 5008 , , NA 18889 0.0565 NA 0.174 False NA ,,, NA NA NA 2504 0.0777 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK055902 CCDS34677.1, CCDS47632.1, CCDS34677.2 7q21.12 2008-09-18 ENSG00000164659 ENSG00000164659 222223 21945 protein-coding gene gene with protein product EIG121-like 614048 NA Standard NM_152748 NM_001142749 NA Approved FLJ31340, EIG121L uc011kha.2 A8MWY0 OTTHUMG00000153995 ENST00000416314.1:c.588+77G>A chr7.hg19:g.86567364C>T NA A4D1C9|B4DJV3|Q17RI6|Q96DP2 hg19 CCDS34677.2 0.02 4.15828 TCAxGAA COVERED NOVEL KIAA1324L-005 PUTATIVE basic|appris_candidate|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000333840.1 0 3.912723 KEEP 0 0 0 13 455 CC 0.994391 0.994388 0 - 6 60 224 0 0 15.010431 110 60 4018 138 ENST00000416314.1 0.051724 0.999997 CROT 54677 __UNKNOWN__ __UNKNOWN__ 7 87028618 87028618 __UNKNOWN__ 3'UTR SNP C C T rs570272139 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:87028618C>T ENST00000419147.2 + 0 2780 CROT_ENST00000331536.3_3'UTR NM_001143935.1 NP_001137407.1 Q9UKG9 OCTC_HUMAN carnitine O-octanoyltransferase NA NA carnitine metabolic process (GO:0009437)|cellular lipid metabolic process (GO:0044255)|coenzyme A metabolic process (GO:0015936)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|generation of precursor metabolites and energy (GO:0006091)|medium-chain fatty acid metabolic process (GO:0051791)|small molecule metabolic process (GO:0044281) intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777) carnitine O-octanoyltransferase activity (GO:0008458)|receptor binding (GO:0005102) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) L-Carnitine(DB00583) gggtaaggtcctgtctctaca 0.517 NA C||| 3 0.000599042 0.0 0.0 5008 , , NA 18138 0.003 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS5604.1, CCDS47634.1, CCDS59062.1 7q21.1 2010-02-26 ENSG00000005469 ENSG00000005469 54677 2366 protein-coding gene gene with protein product 606090 NA 10486279 Standard NM_021151 NM_021151 NA Approved COT uc003uit.3 Q9UKG9 OTTHUMG00000023653 ENST00000419147.2:c.*658C>T chr7.hg19:g.87028618C>T NA A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2 hg19 CCDS47634.1 0.02 4.652098 GTCxTGT COVERED NOVEL CROT-002 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000334713.1 12 21.068601 KEEP 0 0 0 70 2509 CC 1 1 0 + 5 60 191 0 0 12.319096 123 60 4664 247 ENST00000419147.2 0.039062 1 ADAM22 53616 __UNKNOWN__ __UNKNOWN__ 7 87759747 87759747 __UNKNOWN__ Silent SNP G G A rs371867819 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:87759747G>A ENST00000265727.7 + 10 877 c.798G>A c.(796-798)gcG>gcA p.A266A ADAM22_ENST00000398204.4_Silent_p.A266A|ADAM22_ENST00000439864.1_Silent_p.A266A|ADAM22_ENST00000315984.7_Silent_p.A266A|ADAM22_ENST00000398209.3_Silent_p.A266A|ADAM22_ENST00000398201.4_Silent_p.A266A Q9P0K1 ADA22_HUMAN ADAM metallopeptidase domain 22 266 Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}. NA adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162) integral component of membrane (GO:0016021) integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270) p.A266A(3) endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3) 53 Esophageal squamous(14;0.00202) STAD - Stomach adenocarcinoma(171;0.215) ATACCTATGCGAAATCTGTGG 0.353 NA NA NA NA NA NA NA NA NA NA NA 3 Substitution - coding silent(3) endometrium(3) G ,,,, 0,3670 0,0,1835 121 113 115 798,798,798,798,798 -9.1 0.5 7 115 1,8159 0,1,4079 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous ADAM22 NM_004194.3,NM_016351.4,NM_021721.3,NM_021722.4,NM_021723.3 ,,,, 0,1,5914 AA,AG,GG 0.0123,0.0,0.0085 ,,,, 266/860,266/871,266/824,266/900,266/907 87759747 1,11829 1835 4080 5915 SO:0001819 synonymous_variant AB009671 CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1 7q21 2008-07-18 2005-08-18 ENSG00000008277 ENSG00000008277 53616 ADAM metallopeptidase domain containing 201 protein-coding gene gene with protein product metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2 603709 a disintegrin and metalloproteinase domain 22 NA 9693107, 10524237 Standard NM_021723 NM_021723 NA Approved MDC2 uc003ujn.3 Q9P0K1 OTTHUMG00000137417 ENST00000265727.7:c.798G>A chr7.hg19:g.87759747G>A NA O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2 hg19 CCDS47637.1 0.02 11.214077 TGCxAAA COVERED NOVEL ADAM22-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000268370.2 1 11.135495 KEEP 0 0 0 37 1260 GG 1 1 0 + 8 60 302 0 0 18.441206 257 60 9241 369 ENST00000265727.7 0.030189 1 STEAP4 79689 __UNKNOWN__ __UNKNOWN__ 7 87911533 87911533 __UNKNOWN__ Intron SNP G G A rs43129 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:87911533G>A ENST00000380079.4 - 3 1086 AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000447758.1_RNA|STEAP4_ENST00000301959.5_Intron|STEAP4_ENST00000414498.1_3'UTR|AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000434733.1_RNA NM_001205315.1|NM_024636.3 NP_001192244.1|NP_078912.2 Q687X5 STEA4_HUMAN STEAP family member 4 NA NA copper ion import (GO:0015677)|fat cell differentiation (GO:0045444)|ferric iron import into cell (GO:0097461)|iron ion homeostasis (GO:0055072) endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872) breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3) 15 Esophageal squamous(14;0.00802) gcacgatctcggctcactgca 0.493 NA G||| 1998 0.398962 0.2284 0.366 5008 , , NA 15099 0.756 NA 0.2107 False NA ,,, NA NA NA 2504 0.4785 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK026806 CCDS43611.1, CCDS56494.1 7q21.13 2014-01-28 2005-06-15 2005-06-15 ENSG00000127954 ENSG00000127954 79689 21923 protein-coding gene gene with protein product 611098 tumor necrosis factor, alpha-induced protein 9 TNFAIP9 NA 11443137, 15897894 Standard NM_024636 NM_024636 NA Approved FLJ23153, TIARP, STAMP2 uc003ujs.3 Q687X5 OTTHUMG00000153853 ENST00000380079.4:c.984+422C>T chr7.hg19:g.87911533G>A NA Q658Q9|Q687X4|Q8WWB0|Q9H5R1 hg19 CCDS43611.1 0.02 -0.114044 CTCxGCT UNCOVERED NOVEL STEAP4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000332712.4 5 2.407593 KEEP 4 0 0 8 264 GG 0 0 0 - 8 60 294 0 0 29.455395 5 55 168 24 ENST00000380079.4 0.615385 0.162467 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 88966456 88966456 __UNKNOWN__ IGR SNP C C T rs1524127 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:88966456C>T NA NA ZNF804B (110 upstream) : AC002383.2 (106831 downstream) NA NA NA GCTGCCAATTCAAAATGTGAC 0.254 NA C||| 995 0.198682 0.0144 0.2695 5008 , , NA 16377 0.6022 NA 0.0099 False NA ,,, NA NA NA 2504 0.1759 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.88966456C>T NA hg19 0.02 6.087589 ATTxAAA COVERED NOVEL 0 4 3.912454 KEEP 0 0 0 13 445 CC 0.994391 0.994391 0 6 60 217 0 0 13.50637 151 60 5687 170 0.038217 1 STEAP2-AS1 100874100 __UNKNOWN__ __UNKNOWN__ 7 89753859 89753859 __UNKNOWN__ RNA SNP G G C rs386715677|rs10952994 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:89753859G>C ENST00000478318.2 - 0 424 DPY19L2P4_ENST00000497063.1_RNA STEAP2 antisense RNA 1 NA NA NA TCTCTAATACGTTTTAATGCT 0.308 NA c||| 3316 0.662141 0.7163 0.6066 5008 , , NA 15772 0.8095 NA 0.5 False NA ,,, NA NA NA 2504 0.6431 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA 7q21.13 2012-10-12 2012-08-15 ENSG00000227646 ENSG00000227646 100874100 Long non-coding RNAs 40820 non-coding RNA RNA, long non-coding STEAP2 antisense RNA 1 (non-protein coding) NA Standard NR_110029 NA Approved OTTHUMG00000065036 ENST00000478318.2: chr7.hg19:g.89753859G>C NA hg19 0.02 18.429148 TACxTTT COVERED NOVEL STEAP2-AS1-002 KNOWN basic antisense NA processed_transcript OTTHUMT00000350909.2 0 19.561851 KEEP 0 0 0 65 2205 GG 1 1 0 - 20 60 727 0 0 47.132527 410 60 14463 557 ENST00000478318.2 0.046512 1 STEAP2 261729 __UNKNOWN__ __UNKNOWN__ 7 89856453 89856453 __UNKNOWN__ Missense_Mutation SNP A A G rs138763223 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:89856453A>G ENST00000394632.1 + 4 830 c.661A>G c.(661-663)Agc>Ggc p.S221G STEAP2_ENST00000394626.1_Missense_Mutation_p.S221G|STEAP2_ENST00000394629.2_Missense_Mutation_p.S221G|STEAP2_ENST00000287908.3_Missense_Mutation_p.S221G|STEAP2_ENST00000394621.2_Missense_Mutation_p.S221G|STEAP2_ENST00000402625.2_Missense_Mutation_p.S221G|STEAP2_ENST00000394622.2_Missense_Mutation_p.S221G NM_001244946.1 NP_001231875.1 Q8NFT2 STEA2_HUMAN STEAP family member 2, metalloreductase 221 NA copper ion import (GO:0015677)|endocytosis (GO:0006897)|ferric iron import into cell (GO:0097461)|Golgi to plasma membrane transport (GO:0006893)|iron ion homeostasis (GO:0055072)|regulated secretory pathway (GO:0045055)|response to hormone (GO:0009725) cytosol (GO:0005829)|early endosome (GO:0005769)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140) cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)|transporter activity (GO:0005215) endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1) 15 all_hematologic(106;0.112) GGTAGCTATAAGCTTGGCCAC 0.403 NA A||| 2 0.000399361 0.0 0.0 5008 , , NA 17937 0.002 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 A GLY/SER,GLY/SER,GLY/SER 4,4402 6.2+/-15.9 0,4,2199 112 106 108 661,661,661 5.9 1 7 dbSNP_134 108 0,8600 0,0,4300 yes missense,missense,missense STEAP2 NM_001040665.1,NM_001040666.1,NM_152999.3 56,56,56 0,4,6499 GG,GA,AA 0.0,0.0908,0.0308 benign,benign,benign 221/491,221/455,221/491 89856453 4,13002 2203 4300 6503 SO:0001583 missense AF455138 CCDS5615.1, CCDS43612.1, CCDS59064.1 7q21.13 2011-09-30 2011-09-30 ENSG00000157214 ENSG00000157214 261729 17885 protein-coding gene gene with protein product 605094 prostate cancer associated protein 1, six transmembrane epithelial antigen of the prostate 2 PCANAP1 NA 10613842, 12095985 Standard NM_152999 NM_001040665 NA Approved IPCA-1, STAMP1, STMP uc003ujz.3 Q8NFT2 OTTHUMG00000023341 ENST00000394632.1:c.661A>G chr7.hg19:g.89856453A>G ENSP00000378128:p.Ser221Gly NA A4D1F1|G5E9C6|Q6UXN6|Q6YPB1|Q8IUE7 hg19 CCDS59064.1 0.02 13.399874 ATAxGCT COVERED 1 4.578754578754579E-4 0 0.0 0 0.0 1 0.0017482517482517483 0 0.0 A 10.96 1.497675 0.26861 9.08E-4 0.0 ENSG00000157214 ENST00000287908;ENST00000394626;ENST00000394622;ENST00000394632;ENST00000394624;ENST00000394621;ENST00000402625;ENST00000394629 T;T;T;T;T;T;T 0.06294 3.6;3.34;3.6;3.32;3.6;3.33;3.34 5.93 5.93 0.95920 . 0.133215 0.64402 D 0.000002 T 0.03263 0.0095 N 0.03948 -0.315 0.34879 D 0.744364 B;B;B;B 0.25486 0.127;0.045;0.0;0.0 B;B;B;B 0.27076 0.076;0.035;0.0;0.0 T 0.49194 -0.8965 9 . . . -17.8232 11.4605 0.50208 0.8657:0.0:0.0:0.1343 . 221;221;221;221 G5E9C6;Q6YPB2;Q8NFT2;B5MC02 .;.;STEA2_HUMAN;. G 221 ENSP00000287908:S221G;ENSP00000378123:S221G;ENSP00000378120:S221G;ENSP00000378128:S221G;ENSP00000378119:S221G;ENSP00000384191:S221G;ENSP00000378125:S221G . S + 1 0 STEAP2 89694389 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 5.225000 0.65294 2.271000 0.75665 0.533000 0.62120 AGC NOVEL STEAP2-003 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000139683.1 3 22.859856 KEEP 0 0 0 76 2382 AA 1 1 0 + 9 60 348 0 0 21.003463 335 60 12319 484 ENST00000394632.1 0.026163 1 STEAP2 261729 __UNKNOWN__ __UNKNOWN__ 7 89867369 89867369 __UNKNOWN__ Intron SNP C C G rs2013992 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:89867369C>G ENST00000402625.2 + 5 1333 Q8NFT2 STEA2_HUMAN STEAP family member 2, metalloreductase NA NA copper ion import (GO:0015677)|endocytosis (GO:0006897)|ferric iron import into cell (GO:0097461)|Golgi to plasma membrane transport (GO:0006893)|iron ion homeostasis (GO:0055072)|regulated secretory pathway (GO:0045055)|response to hormone (GO:0009725) cytosol (GO:0005829)|early endosome (GO:0005769)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140) cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)|transporter activity (GO:0005215) endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1) 15 all_hematologic(106;0.112) TGCAGCCATGCCTACATCCTC 0.433 NA C||| 2732 0.545527 0.6536 0.4827 5008 , , NA 17987 0.7589 NA 0.3221 False NA ,,, NA NA NA 2504 0.454 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF455138 CCDS5615.1, CCDS43612.1, CCDS59064.1 7q21.13 2011-09-30 2011-09-30 ENSG00000157214 ENSG00000157214 261729 17885 protein-coding gene gene with protein product 605094 prostate cancer associated protein 1, six transmembrane epithelial antigen of the prostate 2 PCANAP1 NA 10613842, 12095985 Standard NM_152999 NM_001040665 NA Approved IPCA-1, STAMP1, STMP uc003ujz.3 Q8NFT2 OTTHUMG00000023341 ENST00000402625.2:c.1186-44C>G chr7.hg19:g.89867369C>G NA A4D1F1|G5E9C6|Q6UXN6|Q6YPB1|Q8IUE7 hg19 0.02 11.090038 ATGxCTA COVERED NOVEL STEAP2-010 PUTATIVE not_organism_supported|basic protein_coding NA protein_coding OTTHUMT00000317399.2 3 19.474584 KEEP 0 1 38 78 2779 CC 1 1 0 + 11 60 405 0 0 25.828867 257 70 9490 443 ENST00000402625.2 0.041045 1 C7orf63 0 __UNKNOWN__ __UNKNOWN__ 7 89897829 89897829 __UNKNOWN__ Intron SNP T T C rs17867605 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:89897829T>C ENST00000389297.4 + 6 783 C7orf63_ENST00000497910.1_Intron|AC002064.4_ENST00000420245.1_RNA|C7orf63_ENST00000316089.8_Intron|C7orf63_ENST00000463311.1_Intron NM_001039706.2|NM_001160138.1 NP_001034795.2|NP_001153610.1 A5D8W1 CG063_HUMAN NA NA breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3) 37 TTTTTTGTAGTCTTGAGCTCT 0.279 NA T||| 2023 0.403954 0.4213 0.3905 5008 , , NA 14969 0.6855 NA 0.2286 False NA ,,, NA NA NA 2504 0.2802 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000389297.4:c.532+131T>C chr7.hg19:g.89897829T>C NA A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2 hg19 CCDS43613.2 0.02 2.079143 TAGxCTT COVERED NOVEL C7orf63-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000139891.4 0 3.309898 KEEP 0 0 0 11 353 TT 0.993072 0.977343 0 + 4 60 145 0 0 10.088845 54 60 1926 71 ENST00000389297.4 0.068966 0.984161 C7orf63 0 __UNKNOWN__ __UNKNOWN__ 7 89906609 89906609 __UNKNOWN__ Silent SNP C C T rs3761805 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:89906609C>T ENST00000389297.4 + 11 1367 c.1116C>T c.(1114-1116)aaC>aaT p.N372N C7orf63_ENST00000497910.1_Silent_p.N354N|C7orf63_ENST00000316089.8_Silent_p.N372N NM_001039706.2|NM_001160138.1 NP_001034795.2|NP_001153610.1 A5D8W1 CG063_HUMAN 372 NA breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3) 37 TACTATTCAACGTAATTGTGA 0.284 NA T||| 2022 0.403754 0.4206 0.3905 5008 , , NA 16063 0.6855 NA 0.2286 False NA ,,, NA NA NA 2504 0.2802 NA NA NA NA 0 T , 1262,2320 226,810,755 39 41 40 1116,1062 1.1 1 7 dbSNP_107 40 1491,6557 133,1225,2666 no coding-synonymous,coding-synonymous C7orf63 NM_001039706.2,NM_001160138.1 , 359,2035,3421 TT,TC,CC 18.5263,35.2317,23.6715 , 372/942,354/924 89906609 2753,8877 1791 4024 5815 SO:0001819 synonymous_variant NA NA NA NA ENST00000389297.4:c.1116C>T chr7.hg19:g.89906609C>T NA A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2 hg19 CCDS43613.2 0.02 2.033138 CAAxGTA COVERED NOVEL C7orf63-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000139891.4 0 5.115986 KEEP 0 0 0 17 554 CC 0.999366 0.999044 0 + 9 60 338 0 0 25.577081 77 60 2667 125 ENST00000389297.4 0.104651 0.999678 C7orf63 0 __UNKNOWN__ __UNKNOWN__ 7 89937210 89937210 __UNKNOWN__ Intron SNP A A G rs4728881 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:89937210A>G ENST00000389297.4 + 21 2801 C7orf63_ENST00000497910.1_Intron|C7orf63_ENST00000316089.8_Intron NM_001039706.2|NM_001160138.1 NP_001034795.2|NP_001153610.1 A5D8W1 CG063_HUMAN NA NA breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3) 37 ACAAATAGCCAACTCTTACAG 0.333 NA A||| 2030 0.405351 0.4274 0.3905 5008 , , NA 18297 0.6855 NA 0.2276 False NA ,,, NA NA NA 2504 0.2802 NA NA NA NA 0 A , 1333,2311 245,843,734 29 30 30 , 3.2 0 7 dbSNP_111 30 1525,6631 138,1249,2691 no intron,intron C7orf63 NM_001039706.2,NM_001160138.1 , 383,2092,3425 GG,GA,AA 18.6979,36.5807,24.2203 , , 89937210 2858,8942 1822 4078 5900 SO:0001627 intron_variant NA NA NA NA ENST00000389297.4:c.2550+42A>G chr7.hg19:g.89937210A>G NA A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2 hg19 CCDS43613.2 0.02 2.096701 GCCxACT COVERED NOVEL C7orf63-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000139891.4 0 3.610156 KEEP 0 0 0 12 354 AA 0.993634 0.97329 0 + 4 60 149 0 0 10.551705 52 60 1820 72 ENST00000389297.4 0.071429 0.979526 MTERF 0 __UNKNOWN__ __UNKNOWN__ 7 91503228 91503228 __UNKNOWN__ Missense_Mutation SNP C C T rs10266424 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:91503228C>T ENST00000419292.1 - 2 896 c.820G>A c.(820-822)Gca>Aca p.A274T MTERF_ENST00000351870.3_Missense_Mutation_p.A294T|MTERF_ENST00000406735.2_Missense_Mutation_p.A274T Q99551 MTEF1_HUMAN 294 NA DNA geometric change (GO:0032392)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of mitochondrial transcription (GO:0006393)|transcription from mitochondrial promoter (GO:0006390) mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739) double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|skin(1) 14 all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176) TTGATGTTTGCGTAGCTTCTT 0.413 NA C||| 2003 0.39996 0.1861 0.5 5008 , , NA 17972 0.4633 NA 0.5169 False NA ,,, NA NA NA 2504 0.4325 NA NA NA NA 0 C THR/ALA 1078,3328 386.3+/-326.1 132,814,1257 63 60 61 880 -4.1 0.8 7 dbSNP_119 61 4190,4410 566.7+/-388.7 1006,2178,1116 yes missense MTERF NM_006980.3 58 1138,2992,2373 TT,TC,CC 48.7209,24.4666,40.5044 benign 294/400 91503228 5268,7738 2203 4300 6503 SO:0001583 missense NA NA NA NA ENST00000419292.1:c.820G>A chr7.hg19:g.91503228C>T ENSP00000414116:p.Ala274Thr NA A4D1E3|Q32NF8|Q53H51|Q9BVR7 hg19 0.02 10.67649 TTGxGTA COVERED 902 0.413003663003663 87 0.17682926829268292 173 0.47790055248618785 250 0.4370629370629371 392 0.5171503957783641 C 0.010 -1.775726 0.00640 0.244666 0.487209 ENSG00000127989 ENST00000419292;ENST00000351870;ENST00000406735 T;T;T 0.12361 2.69;2.69;2.69 4.89 -4.14 0.03892 . 0.794205 0.11405 N 0.567405 T 0.00012 0.0000 N 0.02011 -0.69 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.41698 -0.9494 9 0.12430 T 0.62 0.1059 6.5365 0.22357 0.1118:0.3594:0.0:0.5287 rs10266424;rs10447798;rs17671125;rs58226799;rs10266424 294 Q99551 MTERF_HUMAN T 274;294;274 ENSP00000414116:A274T;ENSP00000248643:A294T;ENSP00000384986:A274T ENSP00000248643:A294T A - 1 0 MTERF 91341164 0.000000 0.05858 0.757000 0.31301 0.028000 0.11728 -0.680000 0.05197 -0.441000 0.07201 -1.451000 0.01035 GCA NOVEL MTERF-002 PUTATIVE basic|appris_principal protein_coding NA protein_coding OTTHUMT00000342895.1 3 10.403041 KEEP 0 2 64 57 1960 CC 1 1 0 - 11 60 398 0 0 24.911246 270 60 9499 399 ENST00000419292.1 0.039146 1 MTERF 0 __UNKNOWN__ __UNKNOWN__ 7 91509232 91509232 __UNKNOWN__ Intron SNP G G A rs12672603 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:91509232G>A ENST00000419292.1 - 1 46 MTERF_ENST00000351870.3_Intron|MTERF_ENST00000481516.1_Intron|MTERF_ENST00000406735.2_Intron Q99551 MTEF1_HUMAN NA NA DNA geometric change (GO:0032392)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of mitochondrial transcription (GO:0006393)|transcription from mitochondrial promoter (GO:0006390) mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739) double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|skin(1) 14 all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176) ATTTACGTTCGCCTCTGCCCC 0.383 NA G||| 971 0.19389 0.2163 0.1297 5008 , , NA 19289 0.3571 NA 0.0934 False NA ,,, NA NA NA 2504 0.1442 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000419292.1:c.30+738C>T chr7.hg19:g.91509232G>A NA A4D1E3|Q32NF8|Q53H51|Q9BVR7 hg19 0.02 12.497756 TTCxCCT COVERED NOVEL MTERF-002 PUTATIVE basic|appris_principal protein_coding NA protein_coding OTTHUMT00000342895.1 2 29.492382 KEEP 0 0 0 98 3348 GG 1 1 0 - 10 60 355 0 0 21.260798 289 60 9772 481 ENST00000419292.1 0.033445 1 AKAP9 10142 __UNKNOWN__ __UNKNOWN__ 7 91728923 91728923 __UNKNOWN__ Intron SNP C C T rs3750111 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:91728923C>T ENST00000356239.3 + 44 10946 AKAP9_ENST00000358100.2_Intron|AKAP9_ENST00000359028.2_Intron NM_005751.4|NM_147185.2 NP_005742.4|NP_671714.1 Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 NA NA G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810) centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076) ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102) NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) CTGTTGTTCTCGGTGCCTATT 0.383 NA T BRAF papillary thyroid C||| 877 0.17512 0.1672 0.1254 5008 , , NA 23745 0.3512 NA 0.0895 False NA ,,, NA NA NA 2504 0.1278 NA NA NA Dom yes 7 7q21-q22 10142 A kinase (PRKA) anchor protein (yotiao) 9 E 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF091711 CCDS5622.1 7q21-q22 2014-09-17 2013-09-25 ENSG00000127914 ENSG00000127914 10142 A-kinase anchor proteins, Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits 379 protein-coding gene gene with protein product A-kinase anchoring protein 450, AKAP9-BRAF fusion protein, AKAP120-like protein, centrosome- and golgi-localized protein kinase N-associated protein, protein kinase A anchoring protein 9, A-kinase anchor protein, 350kDa, protein phosphatase 1, regulatory subunit 45, yotiao 604001 NA 9482789, 10390370, 24475373 Standard NM_005751 NM_147185 NA Approved KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11 uc003ulg.3 Q99996 OTTHUMG00000131127 ENST00000356239.3:c.10714-78C>T chr7.hg19:g.91728923C>T NA A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2 hg19 CCDS5622.1 0.02 6.903093 TCTxGGT COVERED NOVEL AKAP9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253808.2 0 8.125662 KEEP 0 0 0 27 888 CC 0.999988 0.999988 0 + 14 60 502 0 0 36.468558 141 60 5224 196 ENST00000356239.3 0.090323 1 CYP51A1 1595 __UNKNOWN__ __UNKNOWN__ 7 91741963 91741963 __UNKNOWN__ 3'UTR SNP G G A rs12673910 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:91741963G>A ENST00000003100.8 - 0 2711 LRRD1_ENST00000422722.1_5'UTR NM_000786.3 NP_000777.1 Q16850 CP51A_HUMAN cytochrome P450, family 51, subfamily A, polypeptide 1 NA NA cholesterol biosynthetic process (GO:0006695)|cholesterol biosynthetic process via 24,25-dihydrolanosterol (GO:0033488)|demethylation (GO:0070988)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020) heme binding (GO:0020037)|iron ion binding (GO:0005506)|sterol 14-demethylase activity (GO:0008398) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1) 10 all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) Itraconazole(DB01167)|Ketoconazole(DB01026)|Sertaconazole(DB01153)|Tioconazole(DB01007) ccaacatagtgaaacccccgt 0.532 NA G||| 850 0.169728 0.1483 0.1239 5008 , , NA 15688 0.3512 NA 0.0885 False NA ,,, NA NA NA 2504 0.1278 NA NA NA GBM(70;1100 1190 11592 25836 51397) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U51685 CCDS5623.1, CCDS55123.1 7q21.2 2012-10-10 2003-02-14 2003-02-28 ENSG00000001630 ENSG00000001630 1595 Cytochrome P450s 2649 protein-coding gene gene with protein product 601637 cytochrome P450, 51 (lanosterol 14-alpha-demethylase) CYP51 NA 8975714 Standard NM_000786 NA Approved CP51, CYPL1, P450L1, LDM, P450-14DM uc003ulm.4 Q16850 OTTHUMG00000131131 ENST00000003100.8:c.*1016C>T chr7.hg19:g.91741963G>A NA A4D1F8|B2RAI4|B4DJ55|O00770|O00772|Q16784|Q8N1A8|Q99868 hg19 CCDS5623.1 0.02 1.827129 AGTxAAA COVERED NOVEL CYP51A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253812.4 0 3.912295 KEEP 0 0 0 13 430 GG 0.994391 0.987356 0 - 5 60 177 0 0 12.502909 58 60 2120 78 ENST00000003100.8 0.079365 0.992926 KRIT1 889 __UNKNOWN__ __UNKNOWN__ 7 91842554 91842554 __UNKNOWN__ Silent SNP T T C rs11542682 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:91842554T>C ENST00000340022.2 - 17 2998 c.1980A>G c.(1978-1980)gtA>gtG p.V660V KRIT1_ENST00000394507.1_Silent_p.V660V|KRIT1_ENST00000394505.2_Silent_p.V660V|KRIT1_ENST00000412043.2_Silent_p.V660V|KRIT1_ENST00000394503.2_Silent_p.V612V NM_004912.3|NM_194455.1 NP_004903.2|NP_919437.1 O00522 KRIT1_HUMAN KRIT1, ankyrin repeat containing 660 FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}. NA angiogenesis (GO:0001525)|cell redox homeostasis (GO:0045454)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|positive regulation of protein binding (GO:0032092)|regulation of catalytic activity (GO:0050790)|regulation of establishment of cell polarity (GO:2000114)|small GTPase mediated signal transduction (GO:0007264) cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|microtubule (GO:0005874)|plasma membrane (GO:0005886) microtubule binding (GO:0008017)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)|small GTPase regulator activity (GO:0005083) p.V660V(1) autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1) 22 all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TATTCACTCCTACATACACAG 0.363 NA t||| 904 0.180511 0.1589 0.1239 5008 , , NA 18715 0.3403 NA 0.0825 False NA ,,, NA NA NA 2504 0.1861 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) G ,,,, 536,3870 243.4+/-253.1 40,456,1707 159 149 152 1836,1980,1980,1980,1980 -0.2 1 7 dbSNP_120 152 795,7805 186.0+/-233.6 39,717,3544 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous KRIT1 NM_001013406.1,NM_004912.3,NM_194454.1,NM_194455.1,NM_194456.1 ,,,, 79,1173,5251 CC,CT,TT 9.2442,12.1652,10.2337 ,,,, 612/689,660/737,660/737,660/737,660/737 91842554 1331,11675 2203 4300 6503 SO:0001819 synonymous_variant AJ294850 CCDS5624.1, CCDS34679.1 7q21.2 2014-09-17 2005-03-15 2005-03-17 ENSG00000001631 ENSG00000001631 889 Ankyrin repeat domain containing 1573 protein-coding gene gene with protein product 604214 cerebral cavernous malformations 1 CCM1 NA 7604043, 11342228 Standard NM_194455 NA Approved CAM uc003ulu.1 O00522 OTTHUMG00000131187 ENST00000340022.2:c.1980A>G chr7.hg19:g.91842554T>C NA A6NNU0|O43894|Q506L6|Q6U276|Q75N19|Q9H180|Q9H264|Q9HAX5 hg19 CCDS5624.1 0.02 9.966659 TCCxACA COVERED NOVEL KRIT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253910.1 2 13.540896 KEEP 0 0 0 45 1407 TT 1 1 0 - 13 60 487 0 0 33.308008 213 60 7957 339 ENST00000340022.2 0.057522 1 ANKIB1 54467 __UNKNOWN__ __UNKNOWN__ 7 92027187 92027187 __UNKNOWN__ Intron SNP A A G rs38793 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:92027187A>G ENST00000265742.3 + 19 2908 NM_019004.1 NP_061877.1 Q9P2G1 AKIB1_HUMAN ankyrin repeat and IBR domain containing 1 NA NA zinc ion binding (GO:0008270) cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1) 41 all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) GCCTTTCTGAACAGCCTCATT 0.463 NA G||| 3642 0.727236 0.761 0.6643 5008 , , NA 15232 0.8333 NA 0.6491 False NA ,,, NA NA NA 2504 0.6973 NA NA NA NA 0 G 2921,1063 1084,753,155 141 146 144 1.6 0 7 dbSNP_76 144 5294,3048 1673,1948,550 no intron ANKIB1 NM_019004.1 2757,2701,705 GG,GA,AA 36.538,26.6817,33.3523 92027187 8215,4111 1992 4171 6163 SO:0001627 intron_variant AB037807 CCDS47639.1 7q21.3 2013-01-10 ENSG00000001629 ENSG00000001629 54467 Ankyrin repeat domain containing 22215 protein-coding gene gene with protein product NA Standard NM_019004 NA Approved DKFZP434A0225, KIAA1386 uc003ulw.2 Q9P2G1 OTTHUMG00000155859 ENST00000265742.3:c.2532+14A>G chr7.hg19:g.92027187A>G NA Q6GMS4|Q6P3S9|Q9NTD7|Q9NW49 hg19 CCDS47639.1 0.02 7.22164 TGAxCAG COVERED NOVEL ANKIB1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000342018.1 3 13.539077 KEEP 0 0 0 45 1367 AA 1 1 0 + 13 60 494 0 0 35.109183 174 60 6223 287 ENST00000265742.3 0.069519 1 ANKIB1 54467 __UNKNOWN__ __UNKNOWN__ 7 92027537 92027537 __UNKNOWN__ Silent SNP C C G rs1861635 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:92027537C>G ENST00000265742.3 + 20 2920 c.2544C>G c.(2542-2544)tcC>tcG p.S848S NM_019004.1 NP_061877.1 Q9P2G1 AKIB1_HUMAN ankyrin repeat and IBR domain containing 1 848 NA zinc ion binding (GO:0008270) cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1) 41 all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) CTCTGAGTTCCTTGGATGAAG 0.398 NA C||| 775 0.154752 0.0643 0.1167 5008 , , NA 16849 0.3413 NA 0.0845 False NA ,,, NA NA NA 2504 0.184 NA NA NA NA 0 C 219,3475 1,217,1629 66 60 61 2544 5 1 7 dbSNP_92 61 788,7438 46,696,3371 no coding-synonymous ANKIB1 NM_019004.1 47,913,5000 GG,GC,CC 9.5794,5.9285,8.448 848/1090 92027537 1007,10913 1847 4113 5960 SO:0001819 synonymous_variant AB037807 CCDS47639.1 7q21.3 2013-01-10 ENSG00000001629 ENSG00000001629 54467 Ankyrin repeat domain containing 22215 protein-coding gene gene with protein product NA Standard NM_019004 NA Approved DKFZP434A0225, KIAA1386 uc003ulw.2 Q9P2G1 OTTHUMG00000155859 ENST00000265742.3:c.2544C>G chr7.hg19:g.92027537C>G NA Q6GMS4|Q6P3S9|Q9NTD7|Q9NW49 hg19 CCDS47639.1 0.02 1.963056 TTCxTTG COVERED NOVEL ANKIB1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000342018.1 2 3.912337 KEEP 0 0 0 13 436 CC 0.994391 0.994299 0 + 5 60 173 0 0 11.208492 89 60 3170 112 ENST00000265742.3 0.053191 0.999907 ANKIB1 54467 __UNKNOWN__ __UNKNOWN__ 7 92029302 92029302 __UNKNOWN__ 3'UTR SNP G G A rs12740 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:92029302G>A ENST00000265742.3 + 0 4685 NM_019004.1 NP_061877.1 Q9P2G1 AKIB1_HUMAN ankyrin repeat and IBR domain containing 1 NA NA zinc ion binding (GO:0008270) cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1) 41 all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) AAGAAATTCAGTAAAACATCC 0.323 NA A||| 3570 0.712859 0.7156 0.6599 5008 , , NA 18683 0.8323 NA 0.6461 False NA ,,, NA NA NA 2504 0.6922 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB037807 CCDS47639.1 7q21.3 2013-01-10 ENSG00000001629 ENSG00000001629 54467 Ankyrin repeat domain containing 22215 protein-coding gene gene with protein product NA Standard NM_019004 NA Approved DKFZP434A0225, KIAA1386 uc003ulw.2 Q9P2G1 OTTHUMG00000155859 ENST00000265742.3:c.*1039G>A chr7.hg19:g.92029302G>A NA Q6GMS4|Q6P3S9|Q9NTD7|Q9NW49 hg19 CCDS47639.1 0.02 14.624879 TCAxTAA COVERED NOVEL ANKIB1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000342018.1 2 13.715044 KEEP 0 2 61 67 2461 GG 1 1 0 + 21 60 798 0 0 55.548373 321 60 12263 510 ENST00000265742.3 0.061404 1 RBM48 84060 __UNKNOWN__ __UNKNOWN__ 7 92165862 92165862 __UNKNOWN__ Intron SNP C C T rs929412 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:92165862C>T ENST00000265732.5 + 5 1058 RBM48_ENST00000481551.1_3'UTR NM_032120.2 NP_115496.2 Q5RL73 RBM48_HUMAN RNA binding motif protein 48 NA NA nucleus (GO:0005634) RNA binding (GO:0003723) NA TATCTGAATCCGTAATATAAC 0.328 NA C||| 426 0.0850639 0.0416 0.1009 5008 , , NA 18625 0.252 NA 0.0189 False NA ,,, NA NA NA 2504 0.0286 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL136619 CCDS43615.1 7q21.2 2013-02-12 2011-12-09 2011-12-09 ENSG00000127993 ENSG00000127993 84060 RNA binding motif (RRM) containing 21785 protein-coding gene gene with protein product chromosome 7 open reading frame 64 C7orf64 NA Standard NM_032120 NM_032120 NA Approved DKFZp564O0523, HSPC304 uc003ulz.3 Q5RL73 OTTHUMG00000159535 ENST00000265732.5:c.1018-303C>T chr7.hg19:g.92165862C>T NA B7Z2K5|B7ZL51|Q5H9T2|Q8IYW7|Q96NS0|Q9H0V7 hg19 CCDS43615.1 0.02 8.185361 ATCxGTA COVERED NOVEL RBM48-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000356076.1 2 12.03747 KEEP 0 0 0 40 1334 CC 1 1 0 + 9 60 335 0 0 21.018363 238 60 8011 329 ENST00000265732.5 0.036437 1 FAM133B 257415 __UNKNOWN__ __UNKNOWN__ 7 92210938 92210938 __UNKNOWN__ Intron SNP T T C rs6964507 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:92210938T>C ENST00000445716.1 - 2 127 FAM133B_ENST00000427372.1_Intron|FAM133B_ENST00000438306.1_Intron NM_152789.2 NP_690002.2 Q5BKY9 F133B_HUMAN family with sequence similarity 133, member B NA NA poly(A) RNA binding (GO:0044822) endometrium(1)|large_intestine(1)|ovary(1)|upper_aerodigestive_tract(1) 4 all_cancers(62;7.39e-11)|all_epithelial(64;7.03e-10)|Breast(17;0.00201)|all_lung(186;0.0384)|Lung NSC(181;0.053)|all_hematologic(106;0.237) STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;9.78e-06)|all cancers(6;1.67e-05)|Epithelial(20;0.113)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) GAACAACAATTAATCCATTAA 0.368 NA T||| 528 0.105431 0.1006 0.1052 5008 , , NA 15694 0.2609 NA 0.0179 False NA ,,, NA NA NA 2504 0.0419 NA NA NA NA 0 T , 304,3392 17,270,1561 59 54 56 , 2 1 7 dbSNP_116 56 185,8005 3,179,3913 no intron,intron FAM133B NM_001040057.1,NM_152789.2 , 20,449,5474 CC,CT,TT 2.2589,8.2251,4.1141 , , 92210938 489,11397 1848 4095 5943 SO:0001627 intron_variant CCDS47640.1, CCDS47641.1 7q21.2 2014-02-12 2007-04-26 ENSG00000234545 ENSG00000234545 257415 28629 protein-coding gene gene with protein product NA 12477932 Standard NM_001040057 NM_152789 NA Approved MGC40405 uc003umc.3 Q5BKY9 OTTHUMG00000155863 ENST00000445716.1:c.25-21A>G chr7.hg19:g.92210938T>C NA B2R994|Q05D67|Q6P5S6|Q8N0W8 hg19 CCDS47640.1 0.02 30.068949 AATxAAT COVERED NOVEL FAM133B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000342181.2 2 27.682213 KEEP 0 0 0 92 2903 TT 1 1 0 - 26 60 991 0 0 63.39455 666 60 24287 959 ENST00000445716.1 0.037572 1 FAM133B 257415 __UNKNOWN__ __UNKNOWN__ 7 92219470 92219470 __UNKNOWN__ Intron SNP C C G rs4141274 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:92219470C>G ENST00000445716.1 - 1 127 FAM133B_ENST00000438306.1_Intron NM_152789.2 NP_690002.2 Q5BKY9 F133B_HUMAN family with sequence similarity 133, member B NA NA poly(A) RNA binding (GO:0044822) endometrium(1)|large_intestine(1)|ovary(1)|upper_aerodigestive_tract(1) 4 all_cancers(62;7.39e-11)|all_epithelial(64;7.03e-10)|Breast(17;0.00201)|all_lung(186;0.0384)|Lung NSC(181;0.053)|all_hematologic(106;0.237) STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;9.78e-06)|all cancers(6;1.67e-05)|Epithelial(20;0.113)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) CTCCAGGCCCCACGTCTGAGG 0.716 NA OREG0018164 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) C||| 502 0.10024 0.0514 0.1037 5008 , , NA 13273 0.2986 NA 0.0179 False NA ,,, NA NA NA 2504 0.044 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS47640.1, CCDS47641.1 7q21.2 2014-02-12 2007-04-26 ENSG00000234545 ENSG00000234545 257415 28629 protein-coding gene gene with protein product NA 12477932 Standard NM_001040057 NM_152789 NA Approved MGC40405 uc003umc.3 Q5BKY9 OTTHUMG00000155863 ENST00000445716.1:c.24+111G>C chr7.hg19:g.92219470C>G 1288 B2R994|Q05D67|Q6P5S6|Q8N0W8 hg19 CCDS47640.1 0.02 17.538492 CCCxACG COVERED NOVEL FAM133B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000342181.2 2 72.53188 KEEP 0 0 0 241 8422 CC 1 1 0 - 15 60 506 0 0 29.059604 447 60 16782 887 ENST00000445716.1 0.032468 1 CDK6 1021 __UNKNOWN__ __UNKNOWN__ 7 92237396 92237396 __UNKNOWN__ 3'UTR SNP A A T rs42031 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:92237396A>T ENST00000265734.4 - 0 8450 NM_001259.6 NP_001250.1 Q00534 CDK6_HUMAN cyclin-dependent kinase 6 NA NA astrocyte development (GO:0014002)|cell cycle arrest (GO:0007050)|cell dedifferentiation (GO:0043697)|cell division (GO:0051301)|dentate gyrus development (GO:0021542)|G1/S transition of mitotic cell cycle (GO:0000082)|generation of neurons (GO:0048699)|gliogenesis (GO:0042063)|hematopoietic stem cell differentiation (GO:0060218)|lateral ventricle development (GO:0021670)|mitotic cell cycle (GO:0000278)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular senescence (GO:2000773)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of osteoblast differentiation (GO:0045668)|Notch signaling pathway (GO:0007219)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of erythrocyte differentiation (GO:0045646)|regulation of gene expression (GO:0010468)|response to virus (GO:0009615)|T cell differentiation in thymus (GO:0033077)|type B pancreatic cell development (GO:0003323) cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ruffle (GO:0001726) ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1) 11 all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237) STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) CAGAACTTTAACCTAAGCACA 0.343 NA T MLLT10 ALL A||| 596 0.11901 0.1104 0.1383 5008 , , NA 19137 0.0585 NA 0.2197 False NA ,,, NA NA NA 2504 0.0757 NA NA NA Dom yes 7 7q21-q22 1021 cyclin-dependent kinase 6 L 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS5628.1 7q21-q22 2011-11-08 ENSG00000105810 ENSG00000105810 1021 Cyclin-dependent kinases 1777 protein-coding gene gene with protein product 603368 NA 1639063 Standard NM_001259 NA Approved PLSTIRE uc010lez.3 Q00534 OTTHUMG00000131697 ENST00000265734.4:c.*7058T>A chr7.hg19:g.92237396A>T NA A4D1G0 hg19 CCDS5628.1 0.02 10.90099 TTAxCCT COVERED NOVEL CDK6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254605.2 3 15.644606 KEEP 0 0 0 52 1627 AA 1 1 0 - 12 60 442 0 0 28.459978 266 60 9456 381 ENST00000265734.4 0.043165 1 CDK6 1021 __UNKNOWN__ __UNKNOWN__ 7 92241633 92241633 __UNKNOWN__ 3'UTR SNP G G C rs2285332 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:92241633G>C ENST00000265734.4 - 0 4213 NM_001259.6 NP_001250.1 Q00534 CDK6_HUMAN cyclin-dependent kinase 6 NA NA astrocyte development (GO:0014002)|cell cycle arrest (GO:0007050)|cell dedifferentiation (GO:0043697)|cell division (GO:0051301)|dentate gyrus development (GO:0021542)|G1/S transition of mitotic cell cycle (GO:0000082)|generation of neurons (GO:0048699)|gliogenesis (GO:0042063)|hematopoietic stem cell differentiation (GO:0060218)|lateral ventricle development (GO:0021670)|mitotic cell cycle (GO:0000278)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular senescence (GO:2000773)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of osteoblast differentiation (GO:0045668)|Notch signaling pathway (GO:0007219)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of erythrocyte differentiation (GO:0045646)|regulation of gene expression (GO:0010468)|response to virus (GO:0009615)|T cell differentiation in thymus (GO:0033077)|type B pancreatic cell development (GO:0003323) cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ruffle (GO:0001726) ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1) 11 all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237) STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) GCCCTTTTCAGTTCACCACTG 0.363 NA T MLLT10 ALL G||| 2185 0.436302 0.438 0.4827 5008 , , NA 20827 0.7321 NA 0.2406 False NA ,,, NA NA NA 2504 0.2975 NA NA NA Dom yes 7 7q21-q22 1021 cyclin-dependent kinase 6 L 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS5628.1 7q21-q22 2011-11-08 ENSG00000105810 ENSG00000105810 1021 Cyclin-dependent kinases 1777 protein-coding gene gene with protein product 603368 NA 1639063 Standard NM_001259 NA Approved PLSTIRE uc010lez.3 Q00534 OTTHUMG00000131697 ENST00000265734.4:c.*2821C>G chr7.hg19:g.92241633G>C NA A4D1G0 hg19 CCDS5628.1 0.02 4.203233 TCAxTTC COVERED NOVEL CDK6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254605.2 1 9.029759 KEEP 0 0 0 30 1093 GG 0.999997 0.999997 0 - 11 60 416 0 0 29.940184 134 60 5084 205 ENST00000265734.4 0.075862 1 SAMD9L 219285 __UNKNOWN__ __UNKNOWN__ 7 92759462 92759462 __UNKNOWN__ 3'UTR SNP A A G rs4267 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:92759462A>G ENST00000318238.4 - 0 7039 NM_152703.2 NP_689916.2 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like NA NA common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145) early endosome (GO:0005769) central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) TTAAATTCCAAGCTCTAGAAT 0.333 NA A||| 1281 0.255791 0.4009 0.3127 5008 , , NA 21148 0.3403 NA 0.0706 False NA ,,, NA NA NA 2504 0.1227 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB095926 CCDS34681.1 7q21.2 2013-01-10 2005-04-26 ENSG00000177409 ENSG00000177409 219285 Sterile alpha motif (SAM) domain containing 1349 protein-coding gene gene with protein product 611170 chromosome 7 open reading frame 6 C7orf6 NA Standard NM_152703 NM_152703 NA Approved KIAA2005, FLJ39885 uc003umh.1 Q8IVG5 OTTHUMG00000155807 ENST00000318238.4:c.*1068T>C chr7.hg19:g.92759462A>G NA A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875 hg19 CCDS34681.1 0.02 4.971218 CCAxGCT COVERED NOVEL SAMD9L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000341730.1 1 6.018584 KEEP 0 0 0 20 646 AA 0.999863 0.99984 0 - 5 60 199 0 0 13.621631 97 60 3551 154 ENST00000318238.4 0.04902 0.999978 SAMD9L 219285 __UNKNOWN__ __UNKNOWN__ 7 92764982 92764982 __UNKNOWN__ Silent SNP C C T rs11538791|rs1133906 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:92764982C>T ENST00000318238.4 - 5 1519 c.303G>A c.(301-303)caG>caA p.Q101Q SAMD9L_ENST00000437805.1_Silent_p.Q101Q|SAMD9L_ENST00000411955.1_Silent_p.Q101Q NM_152703.2 NP_689916.2 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 101 NA common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145) early endosome (GO:0005769) central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) TTGGATTTTTCTGGTGTTCTG 0.333 NA T||| 1912 0.381789 0.6346 0.3631 5008 , , NA 19670 0.5595 NA 0.1193 False NA ,,, NA NA NA 2504 0.1401 NA NA NA NA 0 T 2394,2012 558.4+/-380.0 656,1082,465 118 136 130 303 0.6 0 7 dbSNP_86 130 1081,7519 766.7+/-407.6 76,929,3295 no coding-synonymous SAMD9L NM_152703.2 732,2011,3760 TT,TC,CC 12.5698,45.665,26.7184 101/1585 92764982 3475,9531 2203 4300 6503 SO:0001819 synonymous_variant AB095926 CCDS34681.1 7q21.2 2013-01-10 2005-04-26 ENSG00000177409 ENSG00000177409 219285 Sterile alpha motif (SAM) domain containing 1349 protein-coding gene gene with protein product 611170 chromosome 7 open reading frame 6 C7orf6 NA Standard NM_152703 NM_152703 NA Approved KIAA2005, FLJ39885 uc003umh.1 Q8IVG5 OTTHUMG00000155807 ENST00000318238.4:c.303G>A chr7.hg19:g.92764982C>T NA A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875 hg19 CCDS34681.1 0.02 10.087705 TTTxTGG COVERED NOVEL SAMD9L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000341730.1 3 12.039543 KEEP 0 0 0 40 1448 CC 1 1 0 - 10 60 357 0 0 22.124497 247 60 9283 340 ENST00000318238.4 0.038911 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 92861626 92861626 __UNKNOWN__ IGR SNP C C T rs17165189 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:92861626C>T NA NA HEPACAM2 (5789 upstream) : CCDC132 (26 downstream) NA NA NA CAGAAGACTACAGTTCCCAGC 0.582 NA C||| 1208 0.241214 0.3147 0.2767 5008 , , NA 14385 0.3829 NA 0.0567 False NA ,,, NA NA NA 2504 0.1605 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.92861626C>T NA hg19 0.02 2.155988 CTAxAGT COVERED NOVEL 0 0 5.718502 KEEP 0 0 0 19 661 CC 0.99986 0.997413 0 4 60 151 0 0 10.301169 68 60 2473 101 0.055556 0.997553 CALCR 799 __UNKNOWN__ __UNKNOWN__ 7 93054921 93054921 __UNKNOWN__ 3'UTR SNP A A G rs3802054 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:93054921A>G ENST00000421592.1 - 0 2508 CALCR_ENST00000359558.2_3'UTR|CALCR_ENST00000360249.4_3'UTR P30988 CALCR_HUMAN calcitonin receptor NA NA adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3) 45 all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207) STAD - Stomach adenocarcinoma(171;0.000244) Pramlintide(DB01278)|Salmon Calcitonin(DB00017) CTCTCAGTTTATAAACATCAG 0.353 NA A||| 50 0.00998403 0.0 0.0 5008 , , NA 17251 0.0496 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L00587 CCDS5631.1, CCDS55125.1 7q21.3 2012-08-10 ENSG00000004948 ENSG00000004948 799 GPCR / Class B : Calcitonin receptors 1440 protein-coding gene gene with protein product 114131 NA 1331173 Standard NM_001742 NM_001742 NA Approved CTR uc003umw.2 P30988 OTTHUMG00000023599 ENST00000421592.1:c.*747T>C chr7.hg19:g.93054921A>G NA A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712 hg19 0.02 4.029814 TTTxTAA COVERED NOVEL CALCR-001 KNOWN basic protein_coding NA protein_coding OTTHUMT00000341741.1 1 5.115187 KEEP 0 0 0 17 524 AA 0.999366 0.999357 0 - 5 60 178 0 0 11.398637 103 60 3741 141 ENST00000421592.1 0.046296 0.999991 CALCR 799 __UNKNOWN__ __UNKNOWN__ 7 93055650 93055650 __UNKNOWN__ 3'UTR SNP G G A rs1042138 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:93055650G>A ENST00000394441.1 - 0 1758 CALCR_ENST00000359558.2_3'UTR|CALCR_ENST00000426151.1_3'UTR|CALCR_ENST00000421592.1_3'UTR|CALCR_ENST00000360249.4_3'UTR NM_001164738.1 NP_001158210.1 P30988 CALCR_HUMAN calcitonin receptor NA NA adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3) 45 all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207) STAD - Stomach adenocarcinoma(171;0.000244) Pramlintide(DB01278)|Salmon Calcitonin(DB00017) TGATCACGATGCTGTGTTTGC 0.433 NA G||| 922 0.184105 0.0507 0.1254 5008 , , NA 21224 0.4256 NA 0.1173 False NA ,,, NA NA NA 2504 0.226 NA NA NA NA 0 G ,, 236,4170 139.2+/-174.8 9,218,1976 136 112 120 ,, 1.9 0 7 dbSNP_86 120 962,7638 209.3+/-250.5 61,840,3399 no utr-3,utr-3,utr-3 CALCR NM_001164737.1,NM_001164738.1,NM_001742.3 ,, 70,1058,5375 AA,AG,GG 11.186,5.3563,9.2111 ,, ,, 93055650 1198,11808 2203 4300 6503 SO:0001624 3_prime_UTR_variant L00587 CCDS5631.1, CCDS55125.1 7q21.3 2012-08-10 ENSG00000004948 ENSG00000004948 799 GPCR / Class B : Calcitonin receptors 1440 protein-coding gene gene with protein product 114131 NA 1331173 Standard NM_001742 NM_001742 NA Approved CTR uc003umw.2 P30988 OTTHUMG00000023599 ENST00000394441.1:c.*18C>T chr7.hg19:g.93055650G>A NA A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712 hg19 CCDS5631.1 0.02 16.564441 GATxCTG COVERED NOVEL CALCR-002 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254661.2 2 12.039438 KEEP 0 0 0 40 1431 GG 1 1 0 - 21 60 716 0 0 45.442723 416 60 15762 551 ENST00000394441.1 0.048055 1 CALCR 799 __UNKNOWN__ __UNKNOWN__ 7 93055753 93055753 __UNKNOWN__ Missense_Mutation SNP A A G rs1801197 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:93055753A>G ENST00000394441.1 - 13 1655 c.1340T>C c.(1339-1341)cTg>cCg p.L447P CALCR_ENST00000359558.2_Missense_Mutation_p.L481P|CALCR_ENST00000426151.1_Missense_Mutation_p.L447P|CALCR_ENST00000421592.1_Missense_Mutation_p.L463P|CALCR_ENST00000360249.4_Missense_Mutation_p.L463P NM_001164738.1 NP_001158210.1 P30988 CALCR_HUMAN calcitonin receptor 481 NA adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3) 45 all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207) STAD - Stomach adenocarcinoma(171;0.000244) Pramlintide(DB01278)|Salmon Calcitonin(DB00017) TTCATTCCTCAGCTCCTGATG 0.557 NA G||| 2722 0.54353 0.5408 0.4308 5008 , , NA 18060 0.8611 NA 0.3052 False NA ,,, NA NA NA 2504 0.545 NA NA NA NA 0 GRCh37 CM980299 CALCR M rs1801197 G PRO/LEU,PRO/LEU,PRO/LEU 2073,2333 606.2+/-390.7 470,1133,600 170 158 162 http://www.ncbi.nlm.nih.gov/sites/varvu?gene 1442,1340,1340 1.3 0 7 dbSNP_89 162 2187,6413 712.5+/-405.9 296,1595,2409 yes missense,missense,missense CALCR NM_001164737.1,NM_001164738.1,NM_001742.3 98,98,98 766,2728,3009 GG,GA,AA 25.4302,47.0495,32.7541 benign,benign,benign 481/509,447/475,447/475 93055753 4260,8746 2203 4300 6503 SO:0001583 missense L00587 CCDS5631.1, CCDS55125.1 7q21.3 2012-08-10 ENSG00000004948 ENSG00000004948 799 GPCR / Class B : Calcitonin receptors 1440 protein-coding gene gene with protein product 114131 NA 1331173 Standard NM_001742 NM_001742 NA Approved CTR uc003umw.2 P30988 OTTHUMG00000023599 ENST00000394441.1:c.1340T>C chr7.hg19:g.93055753A>G ENSP00000377959:p.Leu447Pro NA A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712 hg19 CCDS5631.1 0.02 23.011593 CTCxGCT COVERED 1154 0.5283882783882784 274 0.556910569105691 157 0.43370165745856354 497 0.8688811188811189 226 0.29815303430079154 G 0.389 -0.924704 0.02377 0.470495 0.254302 ENSG00000004948 ENST00000359558;ENST00000360249;ENST00000421592;ENST00000394441;ENST00000426151 T;T;T;T;T 0.50001 0.76;0.78;0.78;0.91;0.91 5.11 1.3 0.21679 . . . . . T 0.00012 0.0000 . . . 0.53005 P 3.2000000000032E-5 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.15521 -1.0434 7 0.28530 T 0.3 . 4.6969 0.12808 0.3355:0.1492:0.5153:0.0 rs1801197;rs3181601;rs10368963;rs11769260;rs17165394;rs58887934;rs1801197 481;447 F5H605;A4D1G6 .;. P 481;463;463;447;447 ENSP00000352561:L481P;ENSP00000353385:L463P;ENSP00000399552:L463P;ENSP00000377959:L447P;ENSP00000389295:L447P ENSP00000352561:L481P L - 2 0 CALCR 92893689 0.940000 0.31905 0.014000 0.15608 0.178000 0.23041 1.787000 0.38704 -0.050000 0.13356 -0.790000 0.03334 CTG NOVEL CALCR-002 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254661.2 3 10.931853 KEEP 0 3 102 72 2220 AA 1 1 0 - 24 60 852 0 0 54.205596 508 60 18717 745 ENST00000394441.1 0.045113 1 COL1A2 1278 __UNKNOWN__ __UNKNOWN__ 7 94038809 94038809 __UNKNOWN__ Intron SNP A A T rs138992045 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:94038809A>T ENST00000297268.6 + 18 1362 NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 NA NA blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179) collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674) COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) AAGAATGAAGATGGGGTCAAA 0.438 NA HNSCC(75;0.22) A||| 10 0.00199681 0.0 0.0 5008 , , NA 18148 0.0099 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 151 146 147 NA NA 7 NA 94038809 692 1591 2283 SO:0001627 intron_variant Z74616 CCDS34682.1 7q21.3 2014-09-17 2002-02-13 ENSG00000164692 ENSG00000164692 1278 Collagens 2198 protein-coding gene gene with protein product alpha 2(I)-collagen, alpha-2 collagen type I, type I procollagen, collagen I, alpha-2 polypeptide, collagen of skin, tendon and bone, alpha-2 chain 120160 osteogenesis imperfecta type IV OI4 NA 3857213, 2897363 Standard NM_000089 NM_000089 NA Approved uc003ung.1 P08123 OTTHUMG00000148675 ENST00000297268.6:c.892-67A>T chr7.hg19:g.94038809A>T NA P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0 hg19 CCDS34682.1 0.02 8.456274 AAGxTGG COVERED NOVEL COL1A2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000309045.2 1 36.398763 KEEP 0 0 0 121 3826 AA 1 1 0 + 8 60 289 0 0 17.518057 231 60 8228 455 ENST00000297268.6 0.033473 1 COL1A2 1278 __UNKNOWN__ __UNKNOWN__ 7 94041937 94041937 __UNKNOWN__ Silent SNP A A C rs412777 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:94041937A>C ENST00000297268.6 + 25 1917 c.1446A>C c.(1444-1446)ccA>ccC p.P482P NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 482 NA blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179) collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674) COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) CAATTGGCCCAGCTGGAGCAA 0.517 NA HNSCC(75;0.22) A||| 1639 0.327276 0.3396 0.2882 5008 , , NA 17908 0.3085 NA 0.3837 False NA ,,, NA NA NA 2504 0.2996 NA NA NA NA 0 A 1508,2898 478.5+/-358.2 254,1000,949 51 50 50 1446 -5.1 1 7 dbSNP_80 50 3188,5412 479.0+/-370.0 591,2006,1703 no coding-synonymous COL1A2 NM_000089.3 845,3006,2652 CC,CA,AA 37.0698,34.2261,36.1064 482/1367 94041937 4696,8310 2203 4300 6503 SO:0001819 synonymous_variant Z74616 CCDS34682.1 7q21.3 2014-09-17 2002-02-13 ENSG00000164692 ENSG00000164692 1278 Collagens 2198 protein-coding gene gene with protein product alpha 2(I)-collagen, alpha-2 collagen type I, type I procollagen, collagen I, alpha-2 polypeptide, collagen of skin, tendon and bone, alpha-2 chain 120160 osteogenesis imperfecta type IV OI4 NA 3857213, 2897363 Standard NM_000089 NM_000089 NA Approved uc003ung.1 P08123 OTTHUMG00000148675 ENST00000297268.6:c.1446A>C chr7.hg19:g.94041937A>C NA P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0 hg19 CCDS34682.1 0.02 6.402623 CCCxGCT COVERED NOVEL COL1A2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000309045.2 1 18.086722 KEEP 0 1 31 71 2202 AA 1 1 0 + 6 60 218 0 0 13.27449 172 60 6294 309 ENST00000297268.6 0.033708 1 COL1A2 1278 __UNKNOWN__ __UNKNOWN__ 7 94047677 94047677 __UNKNOWN__ Intron SNP C C T rs42527 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:94047677C>T ENST00000297268.6 + 33 2442 NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 NA NA blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179) collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674) COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) GGTAAGGAATCGAGACATTGC 0.274 NA HNSCC(75;0.22) C||| 1143 0.228235 0.1974 0.1758 5008 , , NA 19591 0.25 NA 0.2515 False NA ,,, NA NA NA 2504 0.2607 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Z74616 CCDS34682.1 7q21.3 2014-09-17 2002-02-13 ENSG00000164692 ENSG00000164692 1278 Collagens 2198 protein-coding gene gene with protein product alpha 2(I)-collagen, alpha-2 collagen type I, type I procollagen, collagen I, alpha-2 polypeptide, collagen of skin, tendon and bone, alpha-2 chain 120160 osteogenesis imperfecta type IV OI4 NA 3857213, 2897363 Standard NM_000089 NM_000089 NA Approved uc003ung.1 P08123 OTTHUMG00000148675 ENST00000297268.6:c.1972-134C>T chr7.hg19:g.94047677C>T NA P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0 hg19 CCDS34682.1 0.02 -0.315836 AATxGAG COVERED NOVEL COL1A2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000309045.2 0 3.610217 KEEP 0 0 0 12 370 CC 0.993634 0.813254 0 + 4 60 147 0 0 11.155505 32 60 1183 48 ENST00000297268.6 0.111111 0.818465 PEG10 23089 __UNKNOWN__ __UNKNOWN__ 7 94295183 94295183 __UNKNOWN__ 3'UTR SNP T T A rs72615135 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:94295183T>A ENST00000482108.1 + 0 2794 PEG10_ENST00000465184.1_Intron NM_001040152.1|NM_001172438.1|NM_001184962.1 NP_001035242.1|NP_001165909.1|NP_001171891.1 Q86TG7 PEG10_HUMAN paternally expressed 10 NA NA apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|placenta development (GO:0001890) cytoplasm (GO:0005737)|nucleus (GO:0005634) DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270) NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1) 21 all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) CAAAAGACCTTCAACATTTTC 0.413 NA T||| 542 0.108227 0.0076 0.085 5008 , , NA 17565 0.1369 NA 0.1541 False NA ,,, NA NA NA 2504 0.184 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB049834 CCDS55126.1, CCDS75636.1, CCDS75637.1 7q21 2007-12-07 ENSG00000242265 ENSG00000242265 23089 14005 protein-coding gene gene with protein product 609810 NA 11318613, 15716091, 16093683 Standard NM_015068 NM_001172437 NA Approved KIAA1051, HB-1, MEF3L, RGAG3, Mar2, Mart2 uc011kie.2 Q86TG7 OTTHUMG00000155578 ENST00000482108.1:c.*1337T>A chr7.hg19:g.94295183T>A NA Q96A68|Q9UPV1 hg19 CCDS55126.1 0.02 5.932683 CCTxCAA COVERED NOVEL PEG10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000340751.1 2 12.035152 KEEP 0 0 0 40 1243 TT 1 1 0 + 7 60 237 0 0 14.724346 145 60 5174 239 ENST00000482108.1 0.046053 1 PPP1R9A 55607 __UNKNOWN__ __UNKNOWN__ 7 94921543 94921543 __UNKNOWN__ 3'UTR SNP C C A rs854543 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:94921543C>A ENST00000433881.1 + 0 5757 PPP1R9A_ENST00000456331.2_3'UTR|PPP1R9A_ENST00000289495.5_3'UTR|PPP1R9A_ENST00000340694.4_3'UTR Q9ULJ8 NEB1_HUMAN protein phosphatase 1, regulatory subunit 9A NA NA actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175) cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5) 71 all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09) STAD - Stomach adenocarcinoma(171;0.0031) GTTATTTTTTCACATCATGAG 0.299 NA HNSCC(28;0.073) A||| 4202 0.839058 0.8056 0.8559 5008 , , NA 15957 0.8829 NA 0.8042 False NA ,,, NA NA NA 2504 0.863 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB033048 CCDS34683.1, CCDS55127.1, CCDS55128.1 7q21.3 2013-01-10 2011-10-04 ENSG00000158528 ENSG00000158528 55607 Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits, Sterile alpha motif (SAM) domain containing 14946 protein-coding gene gene with protein product 602468 protein phosphatase 1, regulatory (inhibitor) subunit 9A NA 10574462 Standard NM_001166160 NM_001166160 NA Approved Neurabin-I, KIAA1222, FLJ20068 uc010lfj.3 Q9ULJ8 OTTHUMG00000155566 ENST00000433881.1:c.*1928C>A chr7.hg19:g.94921543C>A NA A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2 hg19 CCDS34683.1 0.02 3.991835 TTTxACA COVERED NOVEL PPP1R9A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000340662.1 0 4.212116 KEEP 0 0 0 14 464 CC 0.995343 0.995343 0 + 8 60 287 0 0 19.33476 127 60 4726 160 ENST00000433881.1 0.059259 1 PPP1R9A 55607 __UNKNOWN__ __UNKNOWN__ 7 94923764 94923764 __UNKNOWN__ 3'UTR SNP A A C rs854546 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:94923764A>C ENST00000433881.1 + 0 7978 PPP1R9A_ENST00000456331.2_3'UTR|PPP1R9A_ENST00000289495.5_3'UTR|PPP1R9A_ENST00000340694.4_3'UTR Q9ULJ8 NEB1_HUMAN protein phosphatase 1, regulatory subunit 9A NA NA actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175) cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5) 71 all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09) STAD - Stomach adenocarcinoma(171;0.0031) CATATTTTCTATTAGAATGGT 0.488 NA HNSCC(28;0.073) A||| 3297 0.658347 0.4349 0.621 5008 , , NA 13662 0.7738 NA 0.7435 False NA ,,, NA NA NA 2504 0.7802 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB033048 CCDS34683.1, CCDS55127.1, CCDS55128.1 7q21.3 2013-01-10 2011-10-04 ENSG00000158528 ENSG00000158528 55607 Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits, Sterile alpha motif (SAM) domain containing 14946 protein-coding gene gene with protein product 602468 protein phosphatase 1, regulatory (inhibitor) subunit 9A NA 10574462 Standard NM_001166160 NM_001166160 NA Approved Neurabin-I, KIAA1222, FLJ20068 uc010lfj.3 Q9ULJ8 OTTHUMG00000155566 ENST00000433881.1:c.*4149A>C chr7.hg19:g.94923764A>C NA A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2 hg19 CCDS34683.1 0.02 2.388156 TCTxTTA COVERED NOVEL PPP1R9A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000340662.1 3 3.911927 KEEP 0 0 0 13 407 AA 0.994391 0.976447 0 + 4 60 140 0 0 9.625957 53 60 1849 78 ENST00000433881.1 0.070175 0.981955 PPP1R9A 55607 __UNKNOWN__ __UNKNOWN__ 7 94923856 94923856 __UNKNOWN__ 3'UTR SNP G G A rs854547 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:94923856G>A ENST00000433881.1 + 0 8070 PPP1R9A_ENST00000456331.2_3'UTR|PPP1R9A_ENST00000289495.5_3'UTR|PPP1R9A_ENST00000340694.4_3'UTR Q9ULJ8 NEB1_HUMAN protein phosphatase 1, regulatory subunit 9A NA NA actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175) cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5) 71 all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09) STAD - Stomach adenocarcinoma(171;0.0031) ATCCAAATGCGCTTCAGTGAT 0.418 NA HNSCC(28;0.073) G||| 2315 0.46226 0.323 0.4769 5008 , , NA 16776 0.3522 NA 0.6243 False NA ,,, NA NA NA 2504 0.5869 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB033048 CCDS34683.1, CCDS55127.1, CCDS55128.1 7q21.3 2013-01-10 2011-10-04 ENSG00000158528 ENSG00000158528 55607 Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits, Sterile alpha motif (SAM) domain containing 14946 protein-coding gene gene with protein product 602468 protein phosphatase 1, regulatory (inhibitor) subunit 9A NA 10574462 Standard NM_001166160 NM_001166160 NA Approved Neurabin-I, KIAA1222, FLJ20068 uc010lfj.3 Q9ULJ8 OTTHUMG00000155566 ENST00000433881.1:c.*4241G>A chr7.hg19:g.94923856G>A NA A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2 hg19 CCDS34683.1 0.02 1.62581 TGCxCTT COVERED NOVEL PPP1R9A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000340662.1 1 5.718202 KEEP 0 0 0 19 641 GG 0.99986 0.999628 0 + 4 60 133 0 0 8.17181 83 60 2866 123 ENST00000433881.1 0.045977 0.999768 PON1 5444 __UNKNOWN__ __UNKNOWN__ 7 94927924 94927924 __UNKNOWN__ 3'UTR SNP C C T rs854552 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:94927924C>T ENST00000222381.3 - 0 1631 NM_000446.5 NP_000437.3 P27169 PON1_HUMAN paraoxonase 1 NA NA aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|dephosphorylation (GO:0016311)|organophosphate catabolic process (GO:0046434)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of binding (GO:0051099)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of transporter activity (GO:0032411)|response to external stimulus (GO:0009605)|response to toxic substance (GO:0009636) blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|intracellular membrane-bounded organelle (GO:0043231)|spherical high-density lipoprotein particle (GO:0034366) aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803) autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 27 all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239) STAD - Stomach adenocarcinoma(171;0.0031) Cefazolin(DB01327) ACATGTGCTTCCAGGCAACAC 0.438 NA T||| 3173 0.633586 0.3767 0.6066 5008 , , NA 21385 0.7639 NA 0.7416 False NA ,,, NA NA NA 2504 0.7546 NA NA NA GBM(119;715 1622 17358 22490 33240) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF539592 CCDS5638.1 7q21.3 2014-03-14 ENSG00000005421 ENSG00000005421 5444 3.1.1.2 Paraoxonases 9204 protein-coding gene gene with protein product esterase A, arylesterase 1 168820 PON NA 8661009, 15450851 Standard NM_000446 NM_000446 NA Approved ESA uc003uns.3 P27169 OTTHUMG00000153894 ENST00000222381.3:c.*332G>A chr7.hg19:g.94927924C>T NA B2RA40|Q16052|Q6B0J6|Q9UCB1 hg19 CCDS5638.1 0.02 12.621265 CTTxCAG COVERED NOVEL PON1-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000332865.2 1 11.73808 KEEP 0 0 0 39 1363 CC 1 1 0 - 19 60 677 0 0 45.4755 301 60 11217 435 ENST00000222381.3 0.059375 1 DYNC1I1 1780 __UNKNOWN__ __UNKNOWN__ 7 95668664 95668664 __UNKNOWN__ Silent SNP C C A rs1048666 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:95668664C>A ENST00000324972.6 + 14 1684 c.1491C>A c.(1489-1491)ggC>ggA p.G497G DYNC1I1_ENST00000497626.1_3'UTR|DYNC1I1_ENST00000437599.1_Silent_p.G477G|DYNC1I1_ENST00000537881.1_Silent_p.G460G|DYNC1I1_ENST00000447467.2_Silent_p.G480G|DYNC1I1_ENST00000457059.1_Silent_p.G480G|DYNC1I1_ENST00000359388.4_Silent_p.G460G NM_004411.4 NP_004402.1 O14576 DC1I1_HUMAN dynein, cytoplasmic 1, intermediate chain 1 497 NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496) cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982) microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507) NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 54 all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191) STAD - Stomach adenocarcinoma(171;0.0957) TGGCAGTGGGCCCAATCGACT 0.463 NA C||| 1061 0.211861 0.23 0.2061 5008 , , NA 14926 0.3006 NA 0.2356 False NA ,,, NA NA NA 2504 0.0757 NA NA NA NA 0 C ,, 999,3407 371.2+/-319.9 113,773,1317 141 128 133 1440,1380,1491 -4.5 0.7 7 dbSNP_86 133 1926,6674 339.8+/-323.3 204,1518,2578 no coding-synonymous,coding-synonymous,coding-synonymous DYNC1I1 NM_001135556.1,NM_001135557.1,NM_004411.4 ,, 317,2291,3895 AA,AC,CC 22.3953,22.6736,22.4896 ,, 480/629,460/609,497/646 95668664 2925,10081 2203 4300 6503 SO:0001819 synonymous_variant AF063228 CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1 7q21.3-q22.1 2013-01-18 2005-11-24 2005-11-24 ENSG00000158560 ENSG00000158560 1780 Cytoplasmic dyneins, WD repeat domain containing 2963 protein-coding gene gene with protein product 603772 dynein, cytoplasmic, intermediate polypeptide 1 DNCI1 NA 10049579, 16260502 Standard NM_004411 NM_004411 NA Approved DNCIC1 uc003uoc.4 O14576 OTTHUMG00000153983 ENST00000324972.6:c.1491C>A chr7.hg19:g.95668664C>A NA B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1 hg19 CCDS5644.1 0.02 10.706723 GGGxCCA COVERED NOVEL DYNC1I1-004 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000333432.1 0 13.544714 KEEP 0 0 0 45 1639 CC 1 1 0 + 8 60 298 0 0 18.182724 247 60 9118 393 ENST00000324972.6 0.031373 1 SLC25A13 10165 __UNKNOWN__ __UNKNOWN__ 7 95751269 95751269 __UNKNOWN__ Missense_Mutation SNP G G C rs544174452 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:95751269G>C ENST00000265631.5 - 16 1768 c.1632C>G c.(1630-1632)atC>atG p.I544M SLC25A13_ENST00000542654.1_Missense_Mutation_p.I436M|SLC25A13_ENST00000416240.2_Missense_Mutation_p.I545M|SLC25A13_ENST00000494085.1_5'UTR Q9UJS0 CMC2_HUMAN solute carrier family 25 (aspartate/glutamate carrier), member 13 544 NA aspartate transport (GO:0015810)|ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular respiration (GO:0045333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|transport (GO:0006810) integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739) calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|transporter activity (GO:0005215) breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4) 42 all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07) STAD - Stomach adenocarcinoma(171;0.194) L-Aspartic Acid(DB00128) ATCTCGTCTTGATAACATCAG 0.473 NA G||| 1 0.000199681 0.0 0.0 5008 , , NA 16089 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 92 91 91 NA NA 7 NA 95751269 2203 4300 6503 SO:0001583 missense AF118838 CCDS5645.1, CCDS55130.1 7q21.3 2013-05-22 2012-03-29 ENSG00000004864 ENSG00000004864 10165 Solute carriers, EF-hand domain containing 10983 protein-coding gene gene with protein product mitochondrial aspartate glutamate carrier 2 603859 solute carrier family 25, member 13 (citrin) CTLN2 NA 10369257 Standard NM_014251 NM_014251 NA Approved CITRIN, ARALAR2 uc003uog.4 Q9UJS0 OTTHUMG00000023074 ENST00000265631.5:c.1632C>G chr7.hg19:g.95751269G>C ENSP00000265631:p.Ile544Met NA O14566|O14575|Q546F9|Q9NZW1|Q9UNI7 hg19 CCDS5645.1 0.02 6.833204 CTTxATA COVERED . . . . . . . . . . G 17.68 3.449510 0.63178 . . ENSG00000004864 ENST00000265631;ENST00000416240;ENST00000542654 T;T;T 0.81415 -1.49;-1.49;-1.49 5.04 5.04 0.67666 Mitochondrial carrier domain (2); 0.128620 0.51477 D 0.000089 D 0.89594 0.6760 M 0.83118 2.625 0.58432 D 0.999999 D;D;D 0.76494 0.999;0.999;0.999 D;D;D 0.79784 0.988;0.993;0.993 D 0.90493 0.4468 10 0.87932 D 0 -14.8911 13.8801 0.63678 0.0:0.0:0.8477:0.1523 . 436;545;544 F5GX33;Q546F9;Q9UJS0 .;.;CMC2_HUMAN M 544;545;436 ENSP00000265631:I544M;ENSP00000400101:I545M;ENSP00000440484:I436M ENSP00000265631:I544M I - 3 3 SLC25A13 95589205 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 3.147000 0.50639 2.786000 0.95864 0.561000 0.74099 ATC NOVEL SLC25A13-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000059395.2 0 13.230637 KEEP 0 0 0 44 1516 GG 1 1 0 - 6 60 230 0 0 14.705002 157 60 5886 240 ENST00000265631.5 0.03681 1 SHFM1 7979 __UNKNOWN__ __UNKNOWN__ 7 96116813 96116813 __UNKNOWN__ Intron SNP T T C rs10250692 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:96116813T>C ENST00000493858.1 - 3 99 C7orf76_ENST00000356686.1_Intron P60896 DSS1_HUMAN split hand/foot malformation (ectrodactyly) type 1 NA NA double-strand break repair via homologous recombination (GO:0000724) proteasome complex (GO:0000502) breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 5 all_cancers(62;4.24e-09)|all_epithelial(64;5.59e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0353)|Lung NSC(181;0.0987) ggtgagtggctgactcgcctc 0.393 NA Homologous recombination C||| 1850 0.369409 0.7057 0.2622 5008 , , NA 16030 0.1964 NA 0.2783 False NA ,,, NA NA NA 2504 0.2628 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U41515 CCDS5646.1 7q21.3 2010-04-22 ENSG00000127922 ENSG00000127922 7979 10845 protein-coding gene gene with protein product deleted in split-hand/foot 1 601285 SHFD1 NA 1895319, 8733122 Standard NM_006304 NM_006304 NA Approved DSS1, Shfdg1, ECD, SEM1, SHSF1 uc003uoi.3 P60896 OTTHUMG00000150680 ENST00000493858.1:c.2609-1084A>G chr7.hg19:g.96116813T>C NA Q13437|Q61067 hg19 0.02 1.546371 GGCxGAC COVERED NOVEL SHFM1-001 KNOWN basic processed_transcript NA protein_coding OTTHUMT00000319591.2 1 3.308861 KEEP 0 0 0 11 325 TT 0.993072 0.993003 0 - 5 60 175 0 0 11.358921 91 60 3408 120 ENST00000493858.1 0.052083 0.99993 ACN9 57001 __UNKNOWN__ __UNKNOWN__ 7 96810729 96810729 __UNKNOWN__ 3'UTR SNP G G A rs13475 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:96810729G>A ENST00000360382.4 + 0 661 ACN9_ENST00000432641.2_3'UTR|ACN9_ENST00000479853.1_3'UTR ACN9 homolog (S. cerevisiae) NA NA large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(3) 10 all_cancers(62;2.54e-08)|all_epithelial(64;2.24e-08)|Esophageal squamous(72;0.00507)|all_lung(186;0.154)|Lung NSC(181;0.159) GCACTTGTATGAAATTCAGTT 0.284 NA G||| 2820 0.563099 0.5121 0.5879 5008 , , NA 16694 0.5288 NA 0.6431 False NA ,,, NA NA NA 2504 0.5675 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC028409 CCDS5648.1 7q22.1 2006-02-09 ENSG00000196636 ENSG00000196636 57001 21752 protein-coding gene gene with protein product 615773 NA Standard NM_020186 NM_020186 NA Approved DC11 uc003uoo.4 Q9NRP4 OTTHUMG00000154064 ENST00000360382.4:c.*453G>A chr7.hg19:g.96810729G>A NA hg19 0.02 4.182398 TATxAAA COVERED NOVEL ACN9-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000333686.3 1 6.320379 KEEP 0 0 0 21 745 GG 0.999869 0.999869 0 + 5 60 180 0 0 11.087009 131 60 5021 194 ENST00000360382.4 0.036765 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 97576865 97576865 __UNKNOWN__ IGR SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:97576865G>A NA NA AC079781.1 (41434 upstream) : MIR5692A1 (16104 downstream) NA NA NA TGACTGGGTAGTGCAGAGGGC 0.473 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.97576865G>A NA hg19 0.02 1.947547 GTAxTGC UNCOVERED NOVEL 0 1 2.40796 KEEP 13 0 0 8 295 GG 0 0 0 6 22 223 0 0 16.157715 67 50 2498 105 0.082192 0.997898 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 97596149 97596149 __UNKNOWN__ IGR SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:97596149G>A NA NA MIR5692C2 (2356 upstream) : OCM2 (17846 downstream) NA NA NA AGGTTGGAGAGGAAGAAGTAC 0.572 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.97596149G>A NA hg19 0.02 2.070404 AGAxGAA COVERED NOVEL 0 1 3.310682 KEEP 12 0 0 11 386 GG 0.99257 0.978827 0 4 22 149 0 0 10.457884 55 48 2053 89 0.067797 0.986153 OCM2 4951 __UNKNOWN__ __UNKNOWN__ 7 97619468 97619468 __UNKNOWN__ 5'UTR SNP A A C rs3757456 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:97619468A>C ENST00000257627.4 - 0 40 OCM2_ENST00000473987.2_Intron NM_006188.3 NP_006179.2 P0CE71 OCM2_HUMAN oncomodulin 2 NA NA calcium ion binding (GO:0005509) lung(4) 4 ACAAACAGGAACGTGCACATC 0.453 NA .||| 307 0.0613019 0.0106 0.0202 5008 , , NA 18315 0.1944 NA 0.0427 False NA ,,, NA NA NA 2504 0.0409 NA NA NA NA 0 A 41,2613 0,41,1286 77 70 73 -4.9 0 7 dbSNP_107 73 181,4437 3,175,2131 no near-gene-5 3,216,3417 CC,CA,AA 3.9194,1.5448,3.0528 97619468 222,7050 1327 2309 3636 SO:0001623 5_prime_UTR_variant BC156841 CCDS5653.1 7q21.2 2014-04-01 ENSG00000135175 ENSG00000135175 4951 EF-hand domain containing 34396 protein-coding gene gene with protein product NA Standard NM_006188 NM_006188 NA Approved uc003upc.3 P0CE71 OTTHUMG00000154162 ENST00000257627.4:c.-52T>G chr7.hg19:g.97619468A>C NA P32930|Q6ISI5|Q75MW0 hg19 CCDS5653.1 0.02 26.695681 GGAxCGT COVERED NOVEL OCM2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000334188.1 24 28.245344 KEEP 0 0 0 94 2877 AA 1 1 0 - 21 60 773 0 0 47.645895 590 70 21113 912 ENST00000257627.4 0.03437 1 LMTK2 22853 __UNKNOWN__ __UNKNOWN__ 7 97784061 97784061 __UNKNOWN__ Intron SNP T T C rs17435590 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:97784061T>C ENST00000297293.5 + 5 743 NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 NA NA early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572) early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037) ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674) NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) AACTGTTCTTTGATTTTAGGT 0.413 NA T||| 1127 0.22504 0.0401 0.317 5008 , , NA 18435 0.1528 NA 0.5109 False NA ,,, NA NA NA 2504 0.1902 NA NA NA NA 0 T 567,3839 252.1+/-258.6 35,497,1671 122 119 120 5.5 0.2 7 dbSNP_123 120 4709,3891 607.5+/-395.3 1302,2105,893 no intron LMTK2 NM_014916.3 1337,2602,2564 CC,CT,TT 45.2442,12.8688,40.5659 97784061 5276,7730 2203 4300 6503 SO:0001627 intron_variant AB029002 CCDS5654.1 7q22.1 2014-06-12 ENSG00000164715 ENSG00000164715 22853 17880 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 100 610989 NA 15005709 Standard NM_014916 NM_014916 NA Approved KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100 uc003upd.2 Q8IWU2 OTTHUMG00000154256 ENST00000297293.5:c.451-9T>C chr7.hg19:g.97784061T>C NA A4D272|Q75MG7|Q9UPS3 hg19 CCDS5654.1 0.02 16.203356 CTTxGAT COVERED NOVEL LMTK2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000334560.1 2 21.197927 KEEP 0 1 33 82 2561 TT 1 1 0 + 10 60 379 0 0 22.764789 356 60 13116 558 ENST00000297293.5 0.027322 1 LMTK2 22853 __UNKNOWN__ __UNKNOWN__ 7 97816327 97816327 __UNKNOWN__ Intron SNP C C T rs6465657 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:97816327C>T ENST00000297293.5 + 9 1291 NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 NA NA early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572) early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037) ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674) NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) ATTGGCTTACCGTTTTATTAG 0.378 NA C||| 1116 0.222843 0.0356 0.3156 5008 , , NA 18475 0.1498 NA 0.5099 False NA ,,, NA NA NA 2504 0.1902 NA NA NA NA 0 C 547,3859 245.3+/-254.3 34,479,1690 106 96 100 http://www.ncbi.nlm.nih.gov/sites/varvu?gene -3.7 0 7 dbSNP_116 100 4698,3902 606.4+/-395.1 1298,2102,900 yes intron LMTK2 NM_014916.3 1332,2581,2590 TT,TC,CC http://www.ncbi.nlm.nih.gov/pubmed?term 45.3721,12.4149,40.3275 97816327 5245,7761 2203 4300 6503 SO:0001627 intron_variant AB029002 CCDS5654.1 7q22.1 2014-06-12 ENSG00000164715 ENSG00000164715 22853 17880 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 100 610989 NA 15005709 Standard NM_014916 NM_014916 NA Approved KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100 uc003upd.2 Q8IWU2 OTTHUMG00000154256 ENST00000297293.5:c.998+17C>T chr7.hg19:g.97816327C>T NA A4D272|Q75MG7|Q9UPS3 hg19 CCDS5654.1 0.02 9.292197 TACxGTT COVERED NOVEL LMTK2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000334560.1 0 7.523676 KEEP 0 0 0 25 831 CC 0.999931 0.999931 0 + 13 60 500 0 0 34.113749 233 60 7811 314 ENST00000297293.5 0.052846 1 LMTK2 22853 __UNKNOWN__ __UNKNOWN__ 7 97821855 97821855 __UNKNOWN__ Missense_Mutation SNP T T C rs56204700 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:97821855T>C ENST00000297293.5 + 11 2371 c.2078T>C c.(2077-2079)aTt>aCt p.I693T NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 693 NA I -> T (in dbSNP:rs56204700). {ECO:0000269|PubMed:17344846}. early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572) early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037) ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674) NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) CCCCGTAAGATTTTTGACAGT 0.378 NA T||| 642 0.128195 0.0197 0.1931 5008 , , NA 16935 0.374 NA 0.0427 False NA ,,, NA NA NA 2504 0.0634 NA NA NA NA 0 T THR/ILE 94,4310 2,90,2110 69 80 76 2078 5.7 0.8 7 dbSNP_129 76 162,8432 0,162,4135 yes missense LMTK2 NM_014916.3 89 2,252,6245 CC,CT,TT 1.885,2.1344,1.9695 benign 693/1504 97821855 256,12742 2202 4297 6499 SO:0001583 missense AB029002 CCDS5654.1 7q22.1 2014-06-12 ENSG00000164715 ENSG00000164715 22853 17880 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 100 610989 NA 15005709 Standard NM_014916 NM_014916 NA Approved KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100 uc003upd.2 Q8IWU2 OTTHUMG00000154256 ENST00000297293.5:c.2078T>C chr7.hg19:g.97821855T>C ENSP00000297293:p.Ile693Thr NA A4D272|Q75MG7|Q9UPS3 hg19 CCDS5654.1 0.02 14.033001 AGAxTTT COVERED 303 0.13873626373626374 8 0.016260162601626018 73 0.20165745856353592 186 0.32517482517482516 36 0.047493403693931395 T 10.64 1.406816 0.25378 0.021344 0.01885 ENSG00000164715 ENST00000297293 T 0.78246 -1.16 5.7 5.7 0.88788 . 0.695881 0.14714 N 0.302746 T 0.00012 0.0000 N 0.19112 0.55 0.51482 P 7.40000000000185E-5 B 0.02656 0.0 B 0.04013 0.001 T 0.07443 -1.0772 9 0.29301 T 0.29 . 7.4353 0.27152 0.0:0.0753:0.1452:0.7795 rs56204700;rs61734174 693 Q8IWU2 LMTK2_HUMAN T 693 ENSP00000297293:I693T ENSP00000297293:I693T I + 2 0 LMTK2 97659791 0.122000 0.22280 0.755000 0.31263 0.454000 0.32378 0.901000 0.28445 2.161000 0.67846 0.533000 0.62120 ATT NOVEL LMTK2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000334560.1 2 22.87068 KEEP 0 0 0 76 2495 TT 1 1 0 + 13 60 483 0 0 31.140293 294 60 10688 480 ENST00000297293.5 0.042345 1 LMTK2 22853 __UNKNOWN__ __UNKNOWN__ 7 97822115 97822115 __UNKNOWN__ Missense_Mutation SNP T T A rs11765552 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:97822115T>A ENST00000297293.5 + 11 2631 c.2338T>A c.(2338-2340)Ttg>Atg p.L780M NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 780 NA L -> M (in dbSNP:rs11765552). {ECO:0000269|PubMed:10470851, ECO:0000269|PubMed:17344846}. early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572) early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037) ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674) NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) TAAGCCAGGCTTGTCTTTGTT 0.428 NA T||| 1121 0.223842 0.0356 0.3156 5008 , , NA 19913 0.1528 NA 0.5119 False NA ,,, NA NA NA 2504 0.1902 NA NA NA NA 0 T MET/LEU 551,3855 247.2+/-255.5 34,483,1686 119 124 122 2338 -0.9 0 7 dbSNP_120 122 4710,3890 607.9+/-395.3 1300,2110,890 yes missense LMTK2 NM_014916.3 15 1334,2593,2576 AA,AT,TT 45.2326,12.5057,40.4506 benign 780/1504 97822115 5261,7745 2203 4300 6503 SO:0001583 missense AB029002 CCDS5654.1 7q22.1 2014-06-12 ENSG00000164715 ENSG00000164715 22853 17880 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 100 610989 NA 15005709 Standard NM_014916 NM_014916 NA Approved KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100 uc003upd.2 Q8IWU2 OTTHUMG00000154256 ENST00000297293.5:c.2338T>A chr7.hg19:g.97822115T>A ENSP00000297293:p.Leu780Met NA A4D272|Q75MG7|Q9UPS3 hg19 CCDS5654.1 0.02 16.041292 GGCxTGT COVERED 613 0.2806776556776557 21 0.042682926829268296 120 0.3314917127071823 81 0.14160839160839161 391 0.5158311345646438 T 12.80 2.047819 0.36085 0.125057 0.547674 ENSG00000164715 ENST00000297293 T 0.78126 -1.15 5.66 -0.876 0.10624 . 1.102820 0.06652 N 0.762926 T 0.00012 0.0000 N 0.14661 0.345 0.80722 P 0.0 P 0.41748 0.761 B 0.35413 0.202 T 0.31052 -0.9957 9 0.33940 T 0.23 . 6.0057 0.19544 0.0:0.2644:0.1255:0.6101 rs11765552;rs17527184;rs11765552 780 Q8IWU2 LMTK2_HUMAN M 780 ENSP00000297293:L780M ENSP00000297293:L780M L + 1 2 LMTK2 97660051 0.002000 0.14202 0.000000 0.03702 0.033000 0.12548 1.132000 0.31418 -0.292000 0.08999 0.533000 0.62120 TTG NOVEL LMTK2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000334560.1 1 17.787309 KEEP 0 1 22 67 2188 TT 1 1 0 + 15 60 566 0 0 36.450401 358 60 13204 542 ENST00000297293.5 0.040214 1 LMTK2 22853 __UNKNOWN__ __UNKNOWN__ 7 97823125 97823125 __UNKNOWN__ Silent SNP G G A rs3801296 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:97823125G>A ENST00000297293.5 + 11 3641 c.3348G>A c.(3346-3348)agG>agA p.R1116R NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 1116 NA early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572) early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037) ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674) NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) CCGAGAAAAGGTCTGAGGAGG 0.607 NA G||| 639 0.127596 0.0325 0.196 5008 , , NA 15924 0.3552 NA 0.0427 False NA ,,, NA NA NA 2504 0.0603 NA NA NA NA 0 G 166,4240 108.6+/-147.0 4,158,2041 64 63 63 3348 3.2 0.1 7 dbSNP_107 63 166,8434 76.6+/-139.3 0,166,4134 no coding-synonymous LMTK2 NM_014916.3 4,324,6175 AA,AG,GG 1.9302,3.7676,2.5527 1116/1504 97823125 332,12674 2203 4300 6503 SO:0001819 synonymous_variant AB029002 CCDS5654.1 7q22.1 2014-06-12 ENSG00000164715 ENSG00000164715 22853 17880 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 100 610989 NA 15005709 Standard NM_014916 NM_014916 NA Approved KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100 uc003upd.2 Q8IWU2 OTTHUMG00000154256 ENST00000297293.5:c.3348G>A chr7.hg19:g.97823125G>A NA A4D272|Q75MG7|Q9UPS3 hg19 CCDS5654.1 0.02 8.078155 AAGxTCT COVERED NOVEL LMTK2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000334560.1 3 11.133617 KEEP 0 0 0 37 1254 GG 1 1 0 + 9 60 316 0 0 19.311433 228 60 8044 320 ENST00000297293.5 0.037975 1 LMTK2 22853 __UNKNOWN__ __UNKNOWN__ 7 97836358 97836358 __UNKNOWN__ 3'UTR SNP C C T rs550301747 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:97836358C>T ENST00000297293.5 + 0 6359 NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 NA NA early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572) early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037) ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674) NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) TCATGGGCGACCTCACACCTC 0.607 NA C||| 1 0.000199681 0.0 0.0 5008 , , NA 17048 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB029002 CCDS5654.1 7q22.1 2014-06-12 ENSG00000164715 ENSG00000164715 22853 17880 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 100 610989 NA 15005709 Standard NM_014916 NM_014916 NA Approved KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100 uc003upd.2 Q8IWU2 OTTHUMG00000154256 ENST00000297293.5:c.*1554C>T chr7.hg19:g.97836358C>T NA A4D272|Q75MG7|Q9UPS3 hg19 CCDS5654.1 0.02 9.89731 CGAxCTC COVERED NOVEL LMTK2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000334560.1 3 15.65073 KEEP 0 0 0 52 1815 CC 1 1 0 + 8 60 286 0 0 16.528286 282 60 10132 394 ENST00000297293.5 0.027586 1 LMTK2 22853 __UNKNOWN__ __UNKNOWN__ 7 97836359 97836359 __UNKNOWN__ 3'UTR SNP C C G rs59826024 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:97836359C>G ENST00000297293.5 + 0 6360 NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 NA NA early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572) early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037) ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674) NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) CATGGGCGACCTCACACCTCC 0.612 NA C||| 623 0.124401 0.0325 0.1931 5008 , , NA 17081 0.3393 NA 0.0427 False NA ,,, NA NA NA 2504 0.0624 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB029002 CCDS5654.1 7q22.1 2014-06-12 ENSG00000164715 ENSG00000164715 22853 17880 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 100 610989 NA 15005709 Standard NM_014916 NM_014916 NA Approved KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100 uc003upd.2 Q8IWU2 OTTHUMG00000154256 ENST00000297293.5:c.*1555C>G chr7.hg19:g.97836359C>G NA A4D272|Q75MG7|Q9UPS3 hg19 CCDS5654.1 0.02 10.72183 GACxTCA COVERED NOVEL LMTK2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000334560.1 3 15.651199 KEEP 0 0 0 52 1860 CC 1 1 0 + 8 60 299 0 0 17.861693 279 60 10176 389 ENST00000297293.5 0.027875 1 LMTK2 22853 __UNKNOWN__ __UNKNOWN__ 7 97836465 97836465 __UNKNOWN__ 3'UTR SNP T T C rs58880085 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:97836465T>C ENST00000297293.5 + 0 6466 NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 NA NA early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572) early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037) ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674) NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) CGGGGGTCCTTGGGCCTGCAG 0.607 NA C||| 624 0.124601 0.0325 0.1931 5008 , , NA 16795 0.3403 NA 0.0427 False NA ,,, NA NA NA 2504 0.0624 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB029002 CCDS5654.1 7q22.1 2014-06-12 ENSG00000164715 ENSG00000164715 22853 17880 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 100 610989 NA 15005709 Standard NM_014916 NM_014916 NA Approved KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100 uc003upd.2 Q8IWU2 OTTHUMG00000154256 ENST00000297293.5:c.*1661T>C chr7.hg19:g.97836465T>C NA A4D272|Q75MG7|Q9UPS3 hg19 CCDS5654.1 0.02 21.124473 CCTxGGG COVERED NOVEL LMTK2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000334560.1 3 22.264905 KEEP 0 0 0 74 2289 TT 1 1 0 + 21 60 742 0 0 47.386037 431 60 15425 659 ENST00000297293.5 0.04646 1 TECPR1 25851 __UNKNOWN__ __UNKNOWN__ 7 97845713 97845713 __UNKNOWN__ 3'UTR SNP G G A rs11551890 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:97845713G>A ENST00000447648.2 - 0 4786 Q7Z6L1 TCPR1_HUMAN tectonin beta-propeller repeat containing 1 NA NA autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914) autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765) phosphatidylinositol-3-phosphate binding (GO:0032266) central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 GGCCGAATGGGGGTTGATGAT 0.627 NA G||| 1515 0.302516 0.0197 0.4078 5008 , , NA 16474 0.499 NA 0.4901 False NA ,,, NA NA NA 2504 0.2147 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS47648.1 7q21.3 2009-01-30 ENSG00000205356 ENSG00000205356 25851 22214 protein-coding gene gene with protein product 614781 NA Standard NM_015395 NM_015395 NA Approved DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358 uc003upg.4 Q7Z6L1 OTTHUMG00000154273 ENST00000447648.2:c.*989C>T chr7.hg19:g.97845713G>A NA A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6 hg19 CCDS47648.1 0.02 15.250143 TGGxGGT COVERED NOVEL TECPR1-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000334661.1 1 7.811834 KEEP 0 0 0 26 867 GG 0.999957 0.999957 0 - 19 60 683 0 0 45.057865 342 60 12297 423 ENST00000447648.2 0.052632 1 TECPR1 25851 __UNKNOWN__ __UNKNOWN__ 7 97874094 97874094 __UNKNOWN__ Intron SNP C C T rs903592 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:97874094C>T ENST00000447648.2 - 5 708 TECPR1_ENST00000542604.1_Intron|TECPR1_ENST00000379795.3_Intron Q7Z6L1 TCPR1_HUMAN tectonin beta-propeller repeat containing 1 NA NA autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914) autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765) phosphatidylinositol-3-phosphate binding (GO:0032266) central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 TGGCCTGAAACACCCGAGCTC 0.642 NA C||| 1339 0.267372 0.0825 0.3285 5008 , , NA 15856 0.4534 NA 0.2724 False NA ,,, NA NA NA 2504 0.2771 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS47648.1 7q21.3 2009-01-30 ENSG00000205356 ENSG00000205356 25851 22214 protein-coding gene gene with protein product 614781 NA Standard NM_015395 NM_015395 NA Approved DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358 uc003upg.4 Q7Z6L1 OTTHUMG00000154273 ENST00000447648.2:c.409-89G>A chr7.hg19:g.97874094C>T NA A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6 hg19 CCDS47648.1 0.02 3.639981 AAAxACC COVERED NOVEL TECPR1-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000334661.1 2 3.645212 KEEP 0 1 31 23 759 CC 0.999909 0.999909 0 - 6 60 198 0 0 11.921472 134 60 4791 178 ENST00000447648.2 0.042857 1 BRI3 25798 __UNKNOWN__ __UNKNOWN__ 7 97920871 97920871 __UNKNOWN__ Intron SNP G G C rs34534766 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:97920871G>C ENST00000539286.1 + 3 374 NM_001159491.1 NP_001152963.1 Q9NQX7 ITM2C_HUMAN brain protein I3 NA NA negative regulation of neuron projection development (GO:0010977)|neuron differentiation (GO:0030182)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238) extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|beta-amyloid binding (GO:0001540) haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(1) 4 all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126) TGCTTTCAGAGACCCAGGAAA 0.453 NA C||| 1470 0.29353 0.2398 0.3516 5008 , , NA 16758 0.2688 NA 0.4801 False NA ,,, NA NA NA 2504 0.1585 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF106966 CCDS5656.1, CCDS55133.1 7q21.3 2008-09-05 ENSG00000164713 ENSG00000164713 25798 1109 protein-coding gene gene with protein product 615628 NA 14592447 Standard NM_015379 NM_015379 NA Approved uc003upi.2 O95415 OTTHUMG00000154275 ENST00000539286.1:c.246-1080G>C chr7.hg19:g.97920871G>C NA B3KPG4|Q4G0A8|Q53H84|Q6IAE7|Q86VK5|Q8N288|Q8TAW0|Q9BUP8 hg19 CCDS55133.1 0.02 6.361657 AGAxACC COVERED NOVEL BRI3-008 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000438227.1 1 9.164306 KEEP 0 1 33 42 1497 GG 1 1 0 + 7 60 261 0 0 16.362248 187 60 7024 299 ENST00000539286.1 0.036082 1 BAIAP2L1 55971 __UNKNOWN__ __UNKNOWN__ 7 97921834 97921834 __UNKNOWN__ 3'UTR SNP A A G rs6465664 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:97921834A>G ENST00000005260.8 - 0 2750 BRI3_ENST00000539286.1_Intron NM_018842.4 NP_061330.2 Q9UHR4 BI2L1_HUMAN BAI1-associated protein 2-like 1 NA NA filopodium assembly (GO:0046847)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|response to bacterium (GO:0009617)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886) proline-rich region binding (GO:0070064) NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1) 23 all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126) STAD - Stomach adenocarcinoma(171;0.215) TTGGCAGCCAAAGATGATTTC 0.562 NA G||| 1438 0.287141 0.2163 0.3516 5008 , , NA 16577 0.2679 NA 0.4801 False NA ,,, NA NA NA 2504 0.1585 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF119666 CCDS34687.1 7q22.1 2012-10-04 ENSG00000006453 ENSG00000006453 55971 21649 protein-coding gene gene with protein product 611877 NA Standard NM_018842 NM_018842 NA Approved IRTKS uc003upj.3 Q9UHR4 OTTHUMG00000165117 ENST00000005260.8:c.*999T>C chr7.hg19:g.97921834A>G NA A4D268|Q75L21|Q75L22|Q96CV4|Q9H5F5|Q9Y2M8 hg19 CCDS34687.1 0.02 17.299422 CCAxAGA COVERED NOVEL BAIAP2L1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000334681.1 7 11.605463 KEEP 0 2 70 63 1991 AA 1 1 0 - 15 60 592 0 0 39.3798 340 70 12093 519 ENST00000005260.8 0.042254 1 BAIAP2L1 55971 __UNKNOWN__ __UNKNOWN__ 7 97935671 97935671 __UNKNOWN__ Intron SNP C C G rs13232181 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:97935671C>G ENST00000005260.8 - 11 1457 NM_018842.4 NP_061330.2 Q9UHR4 BI2L1_HUMAN BAI1-associated protein 2-like 1 NA NA filopodium assembly (GO:0046847)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|response to bacterium (GO:0009617)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886) proline-rich region binding (GO:0070064) NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1) 23 all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126) STAD - Stomach adenocarcinoma(171;0.215) GCCTGCGACACAGCTAGATGG 0.592 NA G||| 1456 0.290735 0.2368 0.353 5008 , , NA 18472 0.2629 NA 0.4751 False NA ,,, NA NA NA 2504 0.1585 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF119666 CCDS34687.1 7q22.1 2012-10-04 ENSG00000006453 ENSG00000006453 55971 21649 protein-coding gene gene with protein product 611877 NA Standard NM_018842 NM_018842 NA Approved IRTKS uc003upj.3 Q9UHR4 OTTHUMG00000165117 ENST00000005260.8:c.1241+79G>C chr7.hg19:g.97935671C>G NA A4D268|Q75L21|Q75L22|Q96CV4|Q9H5F5|Q9Y2M8 hg19 CCDS34687.1 0.02 9.642814 ACAxAGC COVERED NOVEL BAIAP2L1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000334681.1 1 4.212025 KEEP 0 0 0 14 485 CC 0.995343 0.995343 0 - 7 60 273 0 0 17.375187 199 60 7445 252 ENST00000005260.8 0.033981 1 BAIAP2L1 55971 __UNKNOWN__ __UNKNOWN__ 7 97937258 97937258 __UNKNOWN__ Intron SNP T T C rs6465666 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:97937258T>C ENST00000005260.8 - 10 1171 RP4-607J23.2_ENST00000609873.1_RNA NM_018842.4 NP_061330.2 Q9UHR4 BI2L1_HUMAN BAI1-associated protein 2-like 1 NA NA filopodium assembly (GO:0046847)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|response to bacterium (GO:0009617)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886) proline-rich region binding (GO:0070064) NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1) 23 all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126) STAD - Stomach adenocarcinoma(171;0.215) TGAGAATCAATAGGCACATTC 0.483 NA T||| 1323 0.264177 0.1399 0.3458 5008 , , NA 24020 0.2629 NA 0.4751 False NA ,,, NA NA NA 2504 0.1585 NA NA NA NA 0 T 889,3517 343.1+/-307.5 84,721,1398 65 58 61 -5.6 0 7 dbSNP_116 61 4316,4284 578.9+/-390.8 1092,2132,1076 no intron BAIAP2L1 NM_018842.4 1176,2853,2474 CC,CT,TT 49.814,20.177,40.02 97937258 5205,7801 2203 4300 6503 SO:0001627 intron_variant AF119666 CCDS34687.1 7q22.1 2012-10-04 ENSG00000006453 ENSG00000006453 55971 21649 protein-coding gene gene with protein product 611877 NA Standard NM_018842 NM_018842 NA Approved IRTKS uc003upj.3 Q9UHR4 OTTHUMG00000165117 ENST00000005260.8:c.956-50A>G chr7.hg19:g.97937258T>C NA A4D268|Q75L21|Q75L22|Q96CV4|Q9H5F5|Q9Y2M8 hg19 CCDS34687.1 0.02 23.723227 CAAxAGG COVERED NOVEL BAIAP2L1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000334681.1 2 13.237131 KEEP 0 0 0 44 1318 TT 1 1 0 - 16 60 620 0 0 38.628913 503 60 18278 658 ENST00000005260.8 0.030829 1 BAIAP2L1 55971 __UNKNOWN__ __UNKNOWN__ 7 97991792 97991792 __UNKNOWN__ Intron SNP A A G rs3801257 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:97991792A>G ENST00000005260.8 - 2 267 BAIAP2L1_ENST00000462558.1_Intron NM_018842.4 NP_061330.2 Q9UHR4 BI2L1_HUMAN BAI1-associated protein 2-like 1 NA NA filopodium assembly (GO:0046847)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|response to bacterium (GO:0009617)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886) proline-rich region binding (GO:0070064) NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1) 23 all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126) STAD - Stomach adenocarcinoma(171;0.215) aaaataaaCCAAGTCATCTTC 0.358 NA G||| 1463 0.292133 0.2436 0.3487 5008 , , NA 17243 0.2629 NA 0.4761 False NA ,,, NA NA NA 2504 0.1585 NA NA NA NA 0 G 1228,3148 176,876,1136 26 27 26 -2.8 0 7 dbSNP_107 26 4286,4304 1093,2100,1102 no intron BAIAP2L1 NM_018842.4 1269,2976,2238 GG,GA,AA 49.8952,28.0622,42.5266 97991792 5514,7452 2188 4295 6483 SO:0001627 intron_variant AF119666 CCDS34687.1 7q22.1 2012-10-04 ENSG00000006453 ENSG00000006453 55971 21649 protein-coding gene gene with protein product 611877 NA Standard NM_018842 NM_018842 NA Approved IRTKS uc003upj.3 Q9UHR4 OTTHUMG00000165117 ENST00000005260.8:c.52-48T>C chr7.hg19:g.97991792A>G NA A4D268|Q75L21|Q75L22|Q96CV4|Q9H5F5|Q9Y2M8 hg19 CCDS34687.1 0.02 2.110065 ACCxAGT COVERED NOVEL BAIAP2L1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000334681.1 1 4.343733 KEEP 0 1 33 26 749 AA 0.999988 0.99995 0 - 4 60 157 0 0 10.316668 96 60 3450 152 ENST00000005260.8 0.04 0.999962 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 98877091 98877091 __UNKNOWN__ IGR SNP T T C rs79446859 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:98877091T>C NA NA MYH16 (21312 upstream) : ARPC1A (46429 downstream) NA NA NA GTGTGGTCTTTGCCTGGACCC 0.527 NA T||| 137 0.0273562 0.0023 0.0476 5008 , , NA 15932 0.0198 NA 0.0209 False NA ,,, NA NA NA 2504 0.0613 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.98877091T>C NA hg19 0.02 4.30533 CTTxGCC COVERED NOVEL 0 2 4.812385 KEEP 0 0 0 16 462 TT 0.997832 0.997831 0 6 60 223 0 0 14.776357 116 60 4135 149 0.04918 0.999999 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 98881168 98881168 __UNKNOWN__ IGR SNP G G C rs11983985 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:98881168G>C NA NA MYH16 (25389 upstream) : ARPC1A (42352 downstream) NA NA NA TGGCACTCACGTGTGTATCTG 0.552 NA G||| 246 0.0491214 0.0726 0.0548 5008 , , NA 22516 0.0238 NA 0.0209 False NA ,,, NA NA NA 2504 0.0685 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.98881168G>C NA hg19 0.02 -0.298195 CACxTGT COVERED NOVEL 0 0 2.407613 KEEP 0 0 0 8 269 GG 0.99257 0.775257 0 3 60 118 0 0 8.82577 31 60 1011 49 0.088235 0.78106 ARPC1A 10552 __UNKNOWN__ __UNKNOWN__ 7 98931105 98931105 __UNKNOWN__ Intron SNP A A G rs2301889 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:98931105A>G ENST00000262942.5 + 2 188 ARPC1A_ENST00000432884.2_Intron NM_001190996.1|NM_006409.3 NP_001177925.1|NP_006400.2 Q92747 ARC1A_HUMAN actin related protein 2/3 complex, subunit 1A, 41kDa NA NA actin cytoskeleton organization (GO:0030036)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|regulation of actin filament polymerization (GO:0030833) actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) actin binding (GO:0003779) endometrium(3)|large_intestine(5)|liver(2)|lung(7)|ovary(1)|prostate(1) 19 all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258) STAD - Stomach adenocarcinoma(171;0.215) CTTTAGACACATTTAGGGCTC 0.358 NA A||| 1112 0.222045 0.2231 0.1542 5008 , , NA 21330 0.3522 NA 0.0577 False NA ,,, NA NA NA 2504 0.3037 NA NA NA NA 0 A , 263,1121 25,213,454 274 238 249 , -0.9 0 7 dbSNP_100 249 216,2966 9,198,1384 no intron,intron ARPC1A NM_001190996.1,NM_006409.3 , 34,411,1838 GG,GA,AA 6.7882,19.0029,10.4906 , , 98931105 479,4087 692 1591 2283 SO:0001627 intron_variant Y08999 CCDS5660.1 7q22.1 2013-03-14 2002-08-29 ENSG00000241685 ENSG00000241685 10552 Actin related protein 2/3 complex subunits, WD repeat domain containing 703 protein-coding gene gene with protein product actin binding protein (Schizosaccharomyces pombe sop2-like), SOP2-like protein 604220 actin related protein 2/3 complex, subunit 1A (41 kD) NA 8978670, 9230079 Standard NM_006409 NM_006409 NA Approved SOP2Hs, SOP2L, Arc40 uc003upx.2 Q92747 OTTHUMG00000154553 ENST00000262942.5:c.64+65A>G chr7.hg19:g.98931105A>G NA A4D276|B4DLQ7|D6W5S1|Q7Z5U8|Q86WU5|Q8IXQ0 hg19 CCDS5660.1 0.02 10.712772 CACxTTT COVERED NOVEL ARPC1A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000335908.1 1 14.742577 KEEP 0 0 0 49 1511 AA 1 1 0 + 14 60 524 0 0 34.771353 274 60 10196 394 ENST00000262942.5 0.048611 1 ARPC1A 10552 __UNKNOWN__ __UNKNOWN__ 7 98955804 98955804 __UNKNOWN__ Intron SNP T T C rs2286162 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:98955804T>C ENST00000262942.5 + 7 837 ARPC1A_ENST00000471960.1_Intron|ARPC1A_ENST00000432884.2_Intron NM_001190996.1|NM_006409.3 NP_001177925.1|NP_006400.2 Q92747 ARC1A_HUMAN actin related protein 2/3 complex, subunit 1A, 41kDa NA NA actin cytoskeleton organization (GO:0030036)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|regulation of actin filament polymerization (GO:0030833) actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) actin binding (GO:0003779) endometrium(3)|large_intestine(5)|liver(2)|lung(7)|ovary(1)|prostate(1) 19 all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258) STAD - Stomach adenocarcinoma(171;0.215) GCCCCTGTCTTGAGAGGCCTG 0.562 NA .||| 2282 0.455671 0.9304 0.2666 5008 , , NA 19276 0.3542 NA 0.1412 False NA ,,, NA NA NA 2504 0.3763 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Y08999 CCDS5660.1 7q22.1 2013-03-14 2002-08-29 ENSG00000241685 ENSG00000241685 10552 Actin related protein 2/3 complex subunits, WD repeat domain containing 703 protein-coding gene gene with protein product actin binding protein (Schizosaccharomyces pombe sop2-like), SOP2-like protein 604220 actin related protein 2/3 complex, subunit 1A (41 kD) NA 8978670, 9230079 Standard NM_006409 NM_006409 NA Approved SOP2Hs, SOP2L, Arc40 uc003upx.2 Q92747 OTTHUMG00000154553 ENST00000262942.5:c.714-159T>C chr7.hg19:g.98955804T>C NA A4D276|B4DLQ7|D6W5S1|Q7Z5U8|Q86WU5|Q8IXQ0 hg19 CCDS5660.1 0.02 2.018935 TCTxGAG COVERED NOVEL ARPC1A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000335908.1 0 3.008327 KEEP 0 0 0 10 289 TT 0.992708 0.99267 0 + 9 60 340 0 0 25.198291 90 60 3221 114 ENST00000262942.5 0.090909 0.999962 PDAP1 11333 __UNKNOWN__ __UNKNOWN__ 7 98993205 98993205 __UNKNOWN__ 3'UTR SNP C C G rs28460612 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:98993205C>G ENST00000350498.3 - 0 1926 PDAP1_ENST00000496335.1_Intron NM_014891.6 NP_055706.1 Q13442 HAP28_HUMAN PDGFA associated protein 1 NA NA cell proliferation (GO:0008283)|signal transduction (GO:0007165) poly(A) RNA binding (GO:0044822) breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)|prostate(1)|skin(1) 9 all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) AGGGCATTTGCACATCTTTTG 0.443 NA C||| 388 0.077476 0.1762 0.062 5008 , , NA 24316 0.0327 NA 0.0338 False NA ,,, NA NA NA 2504 0.046 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U41745 CCDS5662.1 7q 2008-07-18 ENSG00000106244 ENSG00000106244 11333 14634 protein-coding gene gene with protein product PDGF associated protein 607075 NA 8780057 Standard NM_014891 NM_014891 NA Approved PAP1, PAP, HASPP28 uc003uqe.3 Q13442 OTTHUMG00000154629 ENST00000350498.3:c.*1100G>C chr7.hg19:g.98993205C>G NA D6W5S5|Q92906 hg19 CCDS5662.1 0.02 7.222597 TTGxACA COVERED NOVEL PDAP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000336388.2 3 12.909721 KEEP 0 0 0 43 1478 CC 1 1 0 - 7 60 277 0 0 18.075551 180 60 6729 287 ENST00000350498.3 0.037433 1 PDAP1 11333 __UNKNOWN__ __UNKNOWN__ 7 98993354 98993354 __UNKNOWN__ 3'UTR SNP C C T rs28558950 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:98993354C>T ENST00000350498.3 - 0 1777 PDAP1_ENST00000496335.1_Intron NM_014891.6 NP_055706.1 Q13442 HAP28_HUMAN PDGFA associated protein 1 NA NA cell proliferation (GO:0008283)|signal transduction (GO:0007165) poly(A) RNA binding (GO:0044822) breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)|prostate(1)|skin(1) 9 all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) GCTGCTTCAGCCTACTGTGGC 0.582 NA C||| 388 0.077476 0.1762 0.062 5008 , , NA 18424 0.0327 NA 0.0338 False NA ,,, NA NA NA 2504 0.046 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U41745 CCDS5662.1 7q 2008-07-18 ENSG00000106244 ENSG00000106244 11333 14634 protein-coding gene gene with protein product PDGF associated protein 607075 NA 8780057 Standard NM_014891 NM_014891 NA Approved PAP1, PAP, HASPP28 uc003uqe.3 Q13442 OTTHUMG00000154629 ENST00000350498.3:c.*951G>A chr7.hg19:g.98993354C>T NA D6W5S5|Q92906 hg19 CCDS5662.1 0.02 9.798375 CAGxCTA COVERED NOVEL PDAP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000336388.2 3 16.850149 KEEP 0 0 0 56 1964 CC 1 1 0 - 9 60 321 0 0 19.143431 270 60 9795 385 ENST00000350498.3 0.032258 1 PDAP1 11333 __UNKNOWN__ __UNKNOWN__ 7 98995724 98995724 __UNKNOWN__ Intron SNP G G A rs75944999 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:98995724G>A ENST00000350498.3 - 5 616 NM_014891.6 NP_055706.1 Q13442 HAP28_HUMAN PDGFA associated protein 1 NA NA cell proliferation (GO:0008283)|signal transduction (GO:0007165) poly(A) RNA binding (GO:0044822) breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)|prostate(1)|skin(1) 9 all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) CCAAGGATTCGGCCTAGGGCC 0.552 NA G||| 145 0.0289537 0.0023 0.0432 5008 , , NA 21097 0.0327 NA 0.0338 False NA ,,, NA NA NA 2504 0.046 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U41745 CCDS5662.1 7q 2008-07-18 ENSG00000106244 ENSG00000106244 11333 14634 protein-coding gene gene with protein product PDGF associated protein 607075 NA 8780057 Standard NM_014891 NM_014891 NA Approved PAP1, PAP, HASPP28 uc003uqe.3 Q13442 OTTHUMG00000154629 ENST00000350498.3:c.336-88C>T chr7.hg19:g.98995724G>A NA D6W5S5|Q92906 hg19 CCDS5662.1 0.02 6.754843 TTCxGCC COVERED NOVEL PDAP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000336388.2 0 12.038434 KEEP 0 0 0 40 1368 GG 1 1 0 - 6 60 230 0 0 14.5636 166 60 5942 253 ENST00000350498.3 0.034884 1 BUD31 8896 __UNKNOWN__ __UNKNOWN__ 7 99016683 99016683 __UNKNOWN__ Intron SNP G G C rs28495024 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:99016683G>C ENST00000431419.1 + 4 421 BUD31_ENST00000456893.1_Intron|BUD31_ENST00000403633.2_Intron|PTCD1_ENST00000292478.4_3'UTR|BUD31_ENST00000222969.5_Intron P41223 BUD31_HUMAN BUD31 homolog (S. cerevisiae) NA NA regulation of transcription from RNA polymerase II promoter (GO:0006357) nucleus (GO:0005634) sequence-specific DNA binding transcription factor activity (GO:0003700) autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1) 4 all_cancers(62;1.76e-08)|all_epithelial(64;1.63e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) GCAGAGCCACGTCTGCTCATC 0.522 NA C||| 2298 0.458866 0.9425 0.2637 5008 , , NA 17968 0.3591 NA 0.1362 False NA ,,, NA NA NA 2504 0.3783 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC022821 CCDS5663.1 7q22.1 2012-06-07 2007-01-12 2006-03-16 ENSG00000106245 ENSG00000106245 8896 29629 protein-coding gene gene with protein product G10 maternal transcript homolog (Xenopus laevis), functional spliceosome-associated protein 17 603477 BUD31 homolog (yeast) NA 7841202 Standard NM_003910 NM_003910 NA Approved YCR063W, EDG-2, EDG2, G10, fSAP17, Cwc14 uc003uqg.4 P41223 OTTHUMG00000154602 ENST00000431419.1:c.298-331G>C chr7.hg19:g.99016683G>C NA A4D274|B7Z4S9|D6W5S6|Q6IB53|Q9UDV1 hg19 0.02 7.229116 CACxTCT COVERED NOVEL BUD31-005 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000336278.1 0 13.844198 KEEP 0 0 0 46 1605 GG 1 1 0 + 12 60 454 0 0 32.896962 140 60 5023 254 ENST00000431419.1 0.078947 1 ATP5J2-PTCD1 100526740 __UNKNOWN__ __UNKNOWN__ 7 99023246 99023246 __UNKNOWN__ Intron SNP C C G rs28457808 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:99023246C>G ENST00000413834.1 - 7 1085 PTCD1_ENST00000555673.1_Intron|PTCD1_ENST00000292478.4_Intron ATP5J2-PTCD1 readthrough NA NA NA ACACCTGCCACGGAAGAGACA 0.627 NA G||| 2344 0.468051 0.9448 0.2839 5008 , , NA 17246 0.3383 NA 0.1779 False NA ,,, NA NA NA 2504 0.3865 NA NA NA NA 0 G , 3100,996 1175,750,123 9 9 9 , -9.7 0 7 dbSNP_125 9 1192,6876 141,910,2983 no intron,intron PTCD1,ATP5J2-PTCD1 NM_001198879.1,NM_015545.3 , 1316,1660,3106 GG,GC,CC 14.7744,24.3164,35.2844 , , 99023246 4292,7872 2048 4034 6082 SO:0001627 intron_variant CCDS56496.1 7q22.1 2011-02-21 ENSG00000248919 ENSG00000248919 100526740 38844 other readthrough NA Standard NM_001198879.1 NM_001198879 NA Approved uc011kiw.2 OTTHUMG00000160779 ENST00000413834.1:c.1063-7G>C chr7.hg19:g.99023246C>G NA hg19 CCDS56496.1 0.02 -0.333356 CCAxGGA COVERED NOVEL ATP5J2-PTCD1-001 KNOWN basic|appris_principal|readthrough_transcript|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000362258.1 1 5.115572 KEEP 0 0 0 17 562 CC 0.999366 0.851444 0 - 5 60 194 0 0 15.422508 32 60 1111 73 ENST00000413834.1 0.135135 0.851984 ATP5J2-PTCD1 100526740 __UNKNOWN__ __UNKNOWN__ 7 99032517 99032517 __UNKNOWN__ Missense_Mutation SNP G G A rs34943973 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:99032517G>A ENST00000413834.1 - 3 518 c.496C>T c.(496-498)Cgg>Tgg p.R166W PTCD1_ENST00000485746.1_5'UTR|PTCD1_ENST00000555673.1_Missense_Mutation_p.R166W|PTCD1_ENST00000292478.4_Missense_Mutation_p.R117W ATP5J2-PTCD1 readthrough NA NA NA TCATCTCTCCGTTCCCCAAAC 0.542 NA G||| 214 0.0427316 0.0545 0.0519 5008 , , NA 19132 0.0327 NA 0.0308 False NA ,,, NA NA NA 2504 0.0429 NA NA NA NA 0 G TRP/ARG,TRP/ARG 210,4196 130.2+/-166.9 4,202,1997 147 155 152 496,349 4.8 0.3 7 dbSNP_126 152 344,8256 117.7+/-177.3 9,326,3965 yes missense,missense PTCD1,ATP5J2-PTCD1 NM_001198879.1,NM_015545.3 101,101 13,528,5962 AA,AG,GG 4.0,4.7662,4.2596 benign,benign 166/750,117/701 99032517 554,12452 2203 4300 6503 SO:0001583 missense CCDS56496.1 7q22.1 2011-02-21 ENSG00000248919 ENSG00000248919 100526740 38844 other readthrough NA Standard NM_001198879.1 NM_001198879 NA Approved uc011kiw.2 OTTHUMG00000160779 ENST00000413834.1:c.496C>T chr7.hg19:g.99032517G>A ENSP00000400168:p.Arg166Trp NA hg19 CCDS56496.1 0.02 4.062006 TCCxTTC COVERED 84 0.038461538461538464 19 0.03861788617886179 23 0.06353591160220995 18 0.03146853146853147 24 0.0316622691292876 G 9.519 1.107845 0.20714 0.047662 0.04 ENSG00000106246;ENSG00000106246;ENSG00000106246;ENSG00000106246;ENSG00000248919 ENST00000292478;ENST00000555673;ENST00000430982;ENST00000430029;ENST00000413834 T;T;D;D;T 0.83250 -0.16;-0.15;-1.7;-1.7;-0.15 5.86 4.8 0.61643 . 0.540484 0.20400 N 0.093068 T 0.20373 0.0490 N 0.14661 0.345 0.09310 N 1 P;P 0.45078 0.85;0.519 B;B 0.40782 0.34;0.083 T 0.42649 -0.9439 10 0.37606 T 0.19 -19.6274 6.8271 0.23889 0.0749:0.2175:0.5906:0.117 rs34943973 166;117 G3V325;O75127 .;PTCD1_HUMAN W 117;166;117;117;166 ENSP00000292478:R117W;ENSP00000450995:R166W;ENSP00000390530:R117W;ENSP00000408059:R117W;ENSP00000400168:R166W ENSP00000400168:R166W R - 1 2 ATP5J2-PTCD1;PTCD1 98870453 0.147000 0.22687 0.252000 0.24328 0.024000 0.10985 2.623000 0.46435 2.766000 0.95052 0.655000 0.94253 CGG NOVEL ATP5J2-PTCD1-001 KNOWN basic|appris_principal|readthrough_transcript|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000362258.1 3 11.437133 KEEP 0 0 0 38 1348 GG 1 1 0 - 8 60 262 0 0 16.712476 142 60 4970 249 ENST00000413834.1 0.053333 1 ATP5J2-PTCD1 100526740 __UNKNOWN__ __UNKNOWN__ 7 99047978 99047978 __UNKNOWN__ Intron SNP T T C rs883403 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:99047978T>C ENST00000413834.1 - 2 144 ATP5J2-PTCD1_ENST00000437572.1_Intron|ATP5J2_ENST00000466753.1_Intron|CPSF4_ENST00000451876.1_Intron|CPSF4_ENST00000471455.1_3'UTR|PTCD1_ENST00000555673.1_Intron|CPSF4_ENST00000436336.2_Silent_p.R129R|CPSF4_ENST00000292476.5_Silent_p.R129R|CPSF4_ENST00000441580.1_Silent_p.R76R ATP5J2-PTCD1 readthrough NA NA NA GGTATGACCGTGGCTTCTGCA 0.617 NA C||| 2277 0.454673 0.9054 0.2824 5008 , , NA 19251 0.3403 NA 0.165 False NA ,,, NA NA NA 2504 0.3834 NA NA NA NA 0 C ,, 3396,1010 375.1+/-321.5 1304,788,111 69 59 62 387,,387 -11.7 0.3 7 dbSNP_86 62 1238,7362 761.7+/-407.6 102,1034,3164 no coding-synonymous,intron,coding-synonymous CPSF4,ATP5J2-PTCD1 NM_001081559.1,NM_001198879.1,NM_006693.2 ,, 1406,1822,3275 CC,CT,TT 14.3953,22.9233,35.6297 ,, 129/245,,129/270 99047978 4634,8372 2203 4300 6503 SO:0001627 intron_variant CCDS56496.1 7q22.1 2011-02-21 ENSG00000248919 ENSG00000248919 100526740 38844 other readthrough NA Standard NM_001198879.1 NM_001198879 NA Approved uc011kiw.2 OTTHUMG00000160779 ENST00000413834.1:c.121+9730A>G chr7.hg19:g.99047978T>C NA hg19 CCDS56496.1 0.02 6.90201 CCGxGGC COVERED 858 0.39285714285714285 428 0.8699186991869918 112 0.30939226519337015 192 0.3356643356643357 126 0.1662269129287599 C 9.966 1.224022 0.22457 0.770767 0.143953 ENSG00000160917 ENST00000440514 . . . 5.93 -11.7 0.00046 . . . . . T 0.00012 0.0000 . . . 0.09310 P 0.9999999999999811 . . . . . . T 0.23190 -1.0195 3 . . . -8.6058 5.2076 0.15299 0.1613:0.3878:0.0609:0.39 rs883403;rs11539768;rs17854666;rs57853370;rs883403 . . . R 11 . . W + 1 0 CPSF4 98885914 0.000000 0.05858 0.280000 0.24747 0.974000 0.67602 -1.672000 0.01952 -2.308000 0.00652 -0.733000 0.03571 TGG NOVEL ATP5J2-PTCD1-001 KNOWN basic|appris_principal|readthrough_transcript|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000362258.1 1 14.738287 KEEP 0 0 0 49 1513 TT 1 1 0 - 8 60 294 0 0 19.051471 170 60 6046 286 ENST00000413834.1 0.044944 1 ATP5J2-PTCD1 100526740 __UNKNOWN__ __UNKNOWN__ 7 99048432 99048432 __UNKNOWN__ Intron SNP T T C rs2280600 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:99048432T>C ENST00000413834.1 - 2 144 ATP5J2-PTCD1_ENST00000437572.1_Intron|ATP5J2_ENST00000466753.1_Intron|CPSF4_ENST00000451876.1_Intron|CPSF4_ENST00000471455.1_Intron|PTCD1_ENST00000555673.1_Intron|CPSF4_ENST00000436336.2_Intron|CPSF4_ENST00000292476.5_Intron|CPSF4_ENST00000441580.1_Intron ATP5J2-PTCD1 readthrough NA NA NA AGTAGCCAGCTGCTCCGCCCT 0.627 NA C||| 2277 0.454673 0.9054 0.2824 5008 , , NA 17891 0.3403 NA 0.165 False NA ,,, NA NA NA 2504 0.3834 NA NA NA NA 0 C ,, 3396,1010 369.8+/-319.3 1307,782,114 38 49 45 ,, -2.9 0 7 dbSNP_100 45 1230,7370 760.9+/-407.6 101,1028,3171 no intron,intron,intron CPSF4,ATP5J2-PTCD1 NM_001081559.1,NM_001198879.1,NM_006693.2 ,, 1408,1810,3285 CC,CT,TT 14.3023,22.9233,35.5682 ,, ,, 99048432 4626,8380 2203 4300 6503 SO:0001627 intron_variant CCDS56496.1 7q22.1 2011-02-21 ENSG00000248919 ENSG00000248919 100526740 38844 other readthrough NA Standard NM_001198879.1 NM_001198879 NA Approved uc011kiw.2 OTTHUMG00000160779 ENST00000413834.1:c.121+9276A>G chr7.hg19:g.99048432T>C NA hg19 CCDS56496.1 0.02 1.572726 AGCxGCT COVERED NOVEL ATP5J2-PTCD1-001 KNOWN basic|appris_principal|readthrough_transcript|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000362258.1 1 5.115755 KEEP 0 0 0 17 540 TT 0.999366 0.987317 0 - 7 60 223 0 0 16.31147 52 60 1870 91 ENST00000413834.1 0.118644 0.987943 ATP5J2-PTCD1 100526740 __UNKNOWN__ __UNKNOWN__ 7 99050039 99050039 __UNKNOWN__ Intron SNP G G A rs17854665 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:99050039G>A ENST00000413834.1 - 2 144 ATP5J2-PTCD1_ENST00000437572.1_Intron|ATP5J2_ENST00000466753.1_Intron|CPSF4_ENST00000451876.1_Silent_p.P150P|CPSF4_ENST00000471455.1_3'UTR|PTCD1_ENST00000555673.1_Intron|CPSF4_ENST00000436336.2_Silent_p.P182P|CPSF4_ENST00000292476.5_Silent_p.P182P|CPSF4_ENST00000441580.1_Silent_p.P129P ATP5J2-PTCD1 readthrough NA NA NA CCCCACTGCCGCAGCAGACAC 0.607 NA G||| 461 0.0920527 0.2352 0.0648 5008 , , NA 19334 0.0317 NA 0.0308 False NA ,,, NA NA NA 2504 0.0429 NA NA NA NA 0 G ,, 846,3560 332.5+/-302.5 79,688,1436 117 121 119 546,,546 -11.4 0.3 7 dbSNP_123 119 351,8249 118.6+/-178.1 9,333,3958 no coding-synonymous,intron,coding-synonymous CPSF4,ATP5J2-PTCD1 NM_001081559.1,NM_001198879.1,NM_006693.2 ,, 88,1021,5394 AA,AG,GG 4.0814,19.2011,9.2034 ,, 182/245,,182/270 99050039 1197,11809 2203 4300 6503 SO:0001627 intron_variant CCDS56496.1 7q22.1 2011-02-21 ENSG00000248919 ENSG00000248919 100526740 38844 other readthrough NA Standard NM_001198879.1 NM_001198879 NA Approved uc011kiw.2 OTTHUMG00000160779 ENST00000413834.1:c.121+7669C>T chr7.hg19:g.99050039G>A NA hg19 CCDS56496.1 0.02 6.090649 GCCxCAG COVERED 178|178 0.0815018315018315|0.0815018315018315 107|107 0.21747967479674796|0.21747967479674796 30|30 0.08287292817679558|0.08287292817679558 17|17 0.02972027972027972|0.02972027972027972 24|24 0.0316622691292876|0.0316622691292876 G|G 16.75|16.75 3.209745|3.209745 0.58343|0.58343 0.192011|0.192011 0.040814|0.040814 ENSG00000160917|ENSG00000160917 ENST00000440514|ENST00000452047 .|T .|0.33438 .|1.41 5.71|5.71 -11.4|-11.4 0.00090|0.00090 .|. .|. .|. .|. .|. T|T 0.00012|0.00012 0.0000|0.0000 .|. .|. .|. 0.09310|0.09310 P|P 0.9999999999989511|0.9999999999989511 .|. .|. .|. .|. .|. .|. T|T 0.10314|0.10314 -1.0635|-1.0635 3|4 .|. .|. .|. -11.2942|-11.2942 5.2709|5.2709 0.15624|0.15624 0.6014:0.1406:0.145:0.113|0.6014:0.1406:0.145:0.113 rs17854665;rs60730079;rs17854665|rs17854665;rs60730079;rs17854665 .|. .|. .|. T|H 64|118 .|ENSP00000392584:R118H .|. A|R +|+ 1|2 0|0 CPSF4|CPSF4 98887975|98887975 0.107000|0.107000 0.21998|0.21998 0.299000|0.299000 0.25016|0.25016 0.966000|0.966000 0.64601|0.64601 -0.743000|-0.743000 0.04845|0.04845 -2.112000|-2.112000 0.00835|0.00835 -1.202000|-1.202000 0.01658|0.01658 GCA|CGC NOVEL ATP5J2-PTCD1-001 KNOWN basic|appris_principal|readthrough_transcript|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000362258.1 3 12.639094 KEEP 0 0 0 42 1424 GG 1 1 0 - 11 60 391 0 0 26.089301 180 60 6460 279 ENST00000413834.1 0.057592 1 ATP5J2-PTCD1 100526740 __UNKNOWN__ __UNKNOWN__ 7 99054289 99054289 __UNKNOWN__ Intron SNP T T G rs1043466 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:99054289T>G ENST00000413834.1 - 2 144 ATP5J2-PTCD1_ENST00000437572.1_Intron|ATP5J2_ENST00000466753.1_Intron|CPSF4_ENST00000451876.1_3'UTR|PTCD1_ENST00000555673.1_Intron|CPSF4_ENST00000436336.2_3'UTR|CPSF4_ENST00000292476.5_3'UTR ATP5J2-PTCD1 readthrough NA NA NA TCATTTTGCCTTAGTATTTTT 0.537 NA G||| 2331 0.465455 0.9448 0.2839 5008 , , NA 19911 0.3403 NA 0.167 False NA ,,, NA NA NA 2504 0.3824 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS56496.1 7q22.1 2011-02-21 ENSG00000248919 ENSG00000248919 100526740 38844 other readthrough NA Standard NM_001198879.1 NM_001198879 NA Approved uc011kiw.2 OTTHUMG00000160779 ENST00000413834.1:c.121+3419A>C chr7.hg19:g.99054289T>G NA hg19 CCDS56496.1 0.02 4.146706 GCCxTAG COVERED NOVEL ATP5J2-PTCD1-001 KNOWN basic|appris_principal|readthrough_transcript|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000362258.1 0 3.009571 KEEP 0 0 0 10 333 TT 0.992708 0.992695 0 - 5 60 174 0 0 11.042021 101 60 3656 129 ENST00000413834.1 0.04717 0.999987 ZNF789 285989 __UNKNOWN__ __UNKNOWN__ 7 99081730 99081730 __UNKNOWN__ Missense_Mutation SNP A A G rs6962772 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:99081730A>G ENST00000448667.1 + 5 533 c.208A>G c.(208-210)Act>Gct p.T70A ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000494186.1_3'UTR|ZNF789_ENST00000331410.5_Missense_Mutation_p.T77A Q5FWF6 ZN789_HUMAN zinc finger protein 789 77 KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}. NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1) 11 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) TCTACCGAGAACTGGGAATAG 0.527 NA G||| 2321 0.463458 0.9372 0.2839 5008 , , NA 19277 0.3393 NA 0.165 False NA ,,, NA NA NA 2504 0.3855 NA NA NA NA 0 G ALA/THR 3483,923 354.6+/-312.7 1372,739,92 127 125 126 229 -2.8 0 7 dbSNP_116 126 1238,7362 762.4+/-407.6 102,1034,3164 yes missense ZNF789 NM_213603.2 58 1474,1773,3256 GG,GA,AA 14.3953,20.9487,36.2986 benign 77/426 99081730 4721,8285 2203 4300 6503 SO:0001583 missense AK093141 CCDS34693.1, CCDS34694.1 7q22.1 2013-01-08 ENSG00000198556 ENSG00000198556 285989 Zinc fingers, C2H2-type, - 27801 protein-coding gene gene with protein product NA 12477932 Standard NM_213603 XM_005250281 NA Approved uc003uqq.1 Q5FWF6 OTTHUMG00000154601 ENST00000448667.1:c.208A>G chr7.hg19:g.99081730A>G ENSP00000405206:p.Thr70Ala NA A4D282|A6NH61|Q6ZMZ9 hg19 0.02 8.718309 AGAxCTG COVERED 876 0.4010989010989011 447 0.9085365853658537 112 0.30939226519337015 191 0.3339160839160839 126 0.1662269129287599 G 0.984 -0.696284 0.03279 0.790513 0.143953 ENSG00000198556 ENST00000331410;ENST00000448667 T;T 0.04917 3.53;5.48 4.15 -2.85 0.05734 Krueppel-associated box (1); . . . . T 0.00012 0.0000 N 0.11201 0.11 0.30939 P 0.7259880000000001 B 0.02656 0.0 B 0.01281 0.0 T 0.30297 -0.9983 8 0.07644 T 0.81 . 0.9601 0.01393 0.4435:0.1255:0.1777:0.2534 rs6962772;rs10358546;rs56621679;rs60618959;rs6962772 77 Q5FWF6 ZN789_HUMAN A 77;70 ENSP00000331927:T77A;ENSP00000405206:T70A ENSP00000331927:T77A T + 1 0 ZNF789 98919666 0.000000 0.05858 0.007000 0.13788 0.922000 0.55478 -0.578000 0.05841 -0.645000 0.05458 -0.119000 0.15052 ACT NOVEL ZNF789-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000336251.1 1 12.035609 KEEP 0 0 0 40 1239 AA 1 1 0 + 9 60 325 0 0 20.704597 199 60 7108 300 ENST00000448667.1 0.043269 1 ZNF789 285989 __UNKNOWN__ __UNKNOWN__ 7 99082928 99082928 __UNKNOWN__ Silent SNP C C T rs79878591 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:99082928C>T ENST00000448667.1 + 6 667 c.342C>T c.(340-342)tgC>tgT p.C114C ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000331410.5_Intron Q5FWF6 ZN789_HUMAN zinc finger protein 789 0 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1) 11 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) atgtcctgtgcattttaggat 0.507 NA C||| 138 0.0275559 0.0015 0.0432 5008 , , NA 18831 0.0317 NA 0.0298 False NA ,,, NA NA NA 2504 0.045 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001819 synonymous_variant AK093141 CCDS34693.1, CCDS34694.1 7q22.1 2013-01-08 ENSG00000198556 ENSG00000198556 285989 Zinc fingers, C2H2-type, - 27801 protein-coding gene gene with protein product NA 12477932 Standard NM_213603 XM_005250281 NA Approved uc003uqq.1 Q5FWF6 OTTHUMG00000154601 ENST00000448667.1:c.342C>T chr7.hg19:g.99082928C>T NA A4D282|A6NH61|Q6ZMZ9 hg19 0.02 11.750536 GTGxATT COVERED NOVEL ZNF789-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000336251.1 3 14.883182 KEEP 0 1 30 60 2141 CC 1 1 0 + 11 60 390 0 0 23.513728 306 60 11453 450 ENST00000448667.1 0.0347 1 ZNF394 84124 __UNKNOWN__ __UNKNOWN__ 7 99091599 99091599 __UNKNOWN__ 3'UTR SNP C C T rs78336331 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:99091599C>T ENST00000426306.2 - 0 1282 ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000494186.1_Intron|ZNF394_ENST00000337673.6_Silent_p.P413P Q53GI3 ZN394_HUMAN zinc finger protein 394 NA NA transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1) 16 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) GACAGGTGTACGGCTTCTCGC 0.493 NA C||| 96 0.0191693 0.0008 0.0303 5008 , , NA 19826 0.0327 NA 0.008 False NA ,,, NA NA NA 2504 0.0337 NA NA NA Ovarian(24;589 697 9939 12704 40742) NA 0 C 21,4385 28.1+/-56.4 0,21,2182 100 101 101 1239 -7.1 0 7 dbSNP_132 101 135,8465 68.7+/-131.2 2,131,4167 no coding-synonymous ZNF394 NM_032164.2 2,152,6349 TT,TC,CC 1.5698,0.4766,1.1994 413/562 99091599 156,12850 2203 4300 6503 SO:0001624 3_prime_UTR_variant BC025241 CCDS5666.1 7q22.1 2014-01-28 ENSG00000160908 ENSG00000160908 84124 Zinc fingers, C2H2-type, -, -, - 18832 protein-coding gene gene with protein product NA Standard NM_032164 NM_032164 NA Approved ZKSCAN14, FLJ12298, ZSCAN46 uc003uqs.3 Q53GI3 OTTHUMG00000154660 ENST00000426306.2:c.*623G>A chr7.hg19:g.99091599C>T NA A4D281|Q05DA6|Q6P5X9|Q8TB27|Q9HA37|Q9UD51 hg19 0.02 33.799229 GTAxGGC COVERED NOVEL ZNF394-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000336499.1 10 43.027204 KEEP 0 0 0 143 4987 CC 1 1 0 - 23 60 836 0 0 50.213529 743 60 25906 1094 ENST00000426306.2 0.030026 1 ZKSCAN5 23660 __UNKNOWN__ __UNKNOWN__ 7 99130875 99130875 __UNKNOWN__ 3'UTR SNP G G A rs3137 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:99130875G>A ENST00000394170.2 + 0 3774 ZKSCAN5_ENST00000326775.5_3'UTR NM_014569.3 NP_055384.1 Q9Y2L8 ZKSC5_HUMAN zinc finger with KRAB and SCAN domains 5 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270) breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 21 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) GTAATCAGTCGTGAGCAGGCA 0.502 NA A||| 2262 0.451677 0.9039 0.2738 5008 , , NA 23184 0.3333 NA 0.163 False NA ,,, NA NA NA 2504 0.3855 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF170025 CCDS5667.1 7q22 2013-01-09 2007-02-20 2007-02-20 ENSG00000196652 ENSG00000196652 23660 Zinc fingers, C2H2-type, -, -, - 12867 protein-coding gene gene with protein product 611272 zinc finger protein homologous to Zfp95 in mouse, zinc finger protein 95 homolog (mouse) ZFP95 NA 10585779 Standard NM_014569 NM_014569 NA Approved ZNF914, ZSCAN37 uc003uqv.3 Q9Y2L8 OTTHUMG00000156749 ENST00000394170.2:c.*1003G>A chr7.hg19:g.99130875G>A NA A4D280|D6W5S9 hg19 CCDS5667.1 0.02 8.935387 GTCxTGA COVERED NOVEL ZKSCAN5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000345597.1 2 9.931432 KEEP 0 0 0 33 1116 GG 0.999998 0.999998 0 + 8 60 261 0 0 15.406027 199 60 7124 266 ENST00000394170.2 0.038647 1 FAM200A 221786 __UNKNOWN__ __UNKNOWN__ 7 99145845 99145845 __UNKNOWN__ Silent SNP C C T rs10238965 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:99145845C>T ENST00000449309.1 - 2 565 c.186G>A c.(184-186)ttG>ttA p.L62L NM_145111.3 NP_659802.1 Q8TCP9 F200A_HUMAN family with sequence similarity 200, member A 62 NA integral component of membrane (GO:0016021) nucleic acid binding (GO:0003676) endometrium(1)|kidney(5)|large_intestine(2)|ovary(2)|skin(1) 11 aatacgatgacaataaggctc 0.403 NA T||| 2314 0.462061 0.9342 0.2853 5008 , , NA 22164 0.3353 NA 0.165 False NA ,,, NA NA NA 2504 0.3855 NA NA NA NA 0 T 3473,929 1369,735,97 117 111 113 186 -4.1 0 7 dbSNP_119 113 1235,7361 102,1031,3165 no coding-synonymous FAM200A NM_145111.3 1471,1766,3262 TT,TC,CC 14.3671,21.104,36.221 62/574 99145845 4708,8290 2201 4298 6499 SO:0001819 synonymous_variant CCDS5668.1 7q22.1 2010-02-22 2010-02-22 2010-02-22 ENSG00000221909 ENSG00000221909 221786 25401 protein-coding gene gene with protein product chromosome 7 open reading frame 38 C7orf38 NA 10607616 Standard NM_145111 NM_145111 NA Approved FLJ36794, DKFZp727G131 uc003ura.3 Q8TCP9 OTTHUMG00000156723 ENST00000449309.1:c.186G>A chr7.hg19:g.99145845C>T NA A4D293|A8K3V9|B2RD92|C9J6A8|D6W5T2|Q8N9P3 hg19 CCDS5668.1 0.02 13.023905 TGAxAAT COVERED NOVEL FAM200A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000345467.1 2 13.242476 KEEP 0 0 0 44 1534 CC 1 1 0 - 21 60 769 0 0 52.956862 310 60 11617 432 ENST00000449309.1 0.063444 1 GS1-259H13.10 0 __UNKNOWN__ __UNKNOWN__ 7 99204540 99204540 __UNKNOWN__ Intron SNP C C G rs17161772 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:99204540C>G ENST00000455905.1 + 5 692 GS1-259H13.2_ENST00000431679.1_lincRNA NA NA NA TAGGTGATCCCTGACCTTCGC 0.507 NA C||| 763 0.152356 0.0832 0.0879 5008 , , NA 21345 0.2907 NA 0.0199 False NA ,,, NA NA NA 2504 0.2853 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000455905.1:c.378+23C>G chr7.hg19:g.99204540C>G NA hg19 0.02 3.795326 TCCxTGA COVERED NOVEL GS1-259H13.10-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000344945.1 1 3.912713 KEEP 0 0 0 13 455 CC 0.994391 0.994391 0 + 7 60 259 0 0 17.042717 139 60 5342 182 ENST00000455905.1 0.047945 1 ZSCAN25 221785 __UNKNOWN__ __UNKNOWN__ 7 99217424 99217424 __UNKNOWN__ Silent SNP G G A rs10282706 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:99217424G>A ENST00000394152.2 + 4 522 c.195G>A c.(193-195)gaG>gaA p.E65E ZSCAN25_ENST00000466948.1_3'UTR|ZSCAN25_ENST00000262941.6_Silent_p.E65E|ZSCAN25_ENST00000334715.3_Silent_p.E65E NM_145115.2 NP_660090.2 Q6NSZ9 ZSC25_HUMAN zinc finger and SCAN domain containing 25 65 SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}. NA transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) NA AGCTCCAGGAGCTCTGTCGTC 0.612 NA A||| 1722 0.34385 0.6914 0.1916 5008 , , NA 18685 0.2817 NA 0.0596 False NA ,,, NA NA NA 2504 0.3384 NA NA NA NA 0 A 2514,1892 542.5+/-376.0 714,1086,403 71 79 77 195 -0.9 1 7 dbSNP_119 77 674,7926 788.3+/-407.6 32,610,3658 no coding-synonymous ZNF498 NM_145115.2 746,1696,4061 AA,AG,GG 7.8372,42.9414,24.5118 65/545 99217424 3188,9818 2203 4300 6503 SO:0001819 synonymous_variant AK057030 CCDS5671.2 7q22.1 2013-01-09 2013-01-09 2013-01-09 ENSG00000197037 ENSG00000197037 221785 -, Zinc fingers, C2H2-type 21961 protein-coding gene gene with protein product zinc finger protein 498 ZNF498 NA 11179890 Standard NM_145115 XM_005250194 NA Approved FLJ32468 uc003url.1 Q6NSZ9 OTTHUMG00000074055 ENST00000394152.2:c.195G>A chr7.hg19:g.99217424G>A NA A4D290|D6W5T5|Q14C82|Q14C99|Q5EBM9|Q6DJZ0|Q6N032|Q6ZML3 hg19 CCDS5671.2 0.02 5.979311 GGAxCTC COVERED NOVEL ZSCAN25-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000157203.4 0 12.039142 KEEP 0 0 0 40 1426 GG 1 1 0 + 7 60 244 0 0 15.300731 151 60 5614 223 ENST00000394152.2 0.044304 1 ZSCAN25 221785 __UNKNOWN__ __UNKNOWN__ 7 99220083 99220083 __UNKNOWN__ Intron SNP A A C rs7808022 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:99220083A>C ENST00000394152.2 + 6 916 ZSCAN25_ENST00000466948.1_Intron|ZSCAN25_ENST00000262941.6_Intron|ZSCAN25_ENST00000334715.3_Intron NM_145115.2 NP_660090.2 Q6NSZ9 ZSC25_HUMAN zinc finger and SCAN domain containing 25 NA NA transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) NA TGAGGTTGTGAGCATCTGGTA 0.498 NA C||| 1734 0.346246 0.6936 0.1888 5008 , , NA 19963 0.2986 NA 0.0547 False NA ,,, NA NA NA 2504 0.3374 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK057030 CCDS5671.2 7q22.1 2013-01-09 2013-01-09 2013-01-09 ENSG00000197037 ENSG00000197037 221785 -, Zinc fingers, C2H2-type 21961 protein-coding gene gene with protein product zinc finger protein 498 ZNF498 NA 11179890 Standard NM_145115 XM_005250194 NA Approved FLJ32468 uc003url.1 Q6NSZ9 OTTHUMG00000074055 ENST00000394152.2:c.590-89A>C chr7.hg19:g.99220083A>C NA A4D290|D6W5T5|Q14C82|Q14C99|Q5EBM9|Q6DJZ0|Q6N032|Q6ZML3 hg19 CCDS5671.2 0.02 4.109056 GTGxGCA COVERED NOVEL ZSCAN25-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000157203.4 2 8.424799 KEEP 0 0 0 28 901 AA 0.999997 0.999997 0 + 6 60 226 0 0 14.845769 127 60 4535 186 ENST00000394152.2 0.045113 1 ZSCAN25 221785 __UNKNOWN__ __UNKNOWN__ 7 99227172 99227172 __UNKNOWN__ Silent SNP A A G rs1859690 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:99227172A>G ENST00000394152.2 + 8 1491 c.1164A>G c.(1162-1164)gaA>gaG p.E388E ZSCAN25_ENST00000466948.1_Intron|ZSCAN25_ENST00000262941.6_Silent_p.E316E|ZSCAN25_ENST00000334715.3_Silent_p.E388E NM_145115.2 NP_660090.2 Q6NSZ9 ZSC25_HUMAN zinc finger and SCAN domain containing 25 388 NA transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) NA CCCTGAGAGAATACCTGATGA 0.557 NA G||| 1736 0.346645 0.6899 0.1902 5008 , , NA 19138 0.3046 NA 0.0547 False NA ,,, NA NA NA 2504 0.3374 NA NA NA NA 0 G 2507,1899 544.9+/-376.7 712,1083,408 78 75 76 1164 2.1 0.9 7 dbSNP_92 76 597,8003 793.0+/-407.5 26,545,3729 yes coding-synonymous ZNF498 NM_145115.2 738,1628,4137 GG,GA,AA 6.9419,43.1003,23.8659 388/545 99227172 3104,9902 2203 4300 6503 SO:0001819 synonymous_variant AK057030 CCDS5671.2 7q22.1 2013-01-09 2013-01-09 2013-01-09 ENSG00000197037 ENSG00000197037 221785 -, Zinc fingers, C2H2-type 21961 protein-coding gene gene with protein product zinc finger protein 498 ZNF498 NA 11179890 Standard NM_145115 XM_005250194 NA Approved FLJ32468 uc003url.1 Q6NSZ9 OTTHUMG00000074055 ENST00000394152.2:c.1164A>G chr7.hg19:g.99227172A>G NA A4D290|D6W5T5|Q14C82|Q14C99|Q5EBM9|Q6DJZ0|Q6N032|Q6ZML3 hg19 CCDS5671.2 0.02 19.089287 AGAxTAC COVERED NOVEL ZSCAN25-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000157203.4 2 15.644661 KEEP 0 0 0 52 1633 AA 1 1 0 + 25 60 927 0 0 63.414952 398 60 14472 579 ENST00000394152.2 0.059102 1 ZSCAN25 221785 __UNKNOWN__ __UNKNOWN__ 7 99229435 99229435 __UNKNOWN__ 3'UTR SNP T T C rs3735453 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:99229435T>C ENST00000394152.2 + 0 3754 ZSCAN25_ENST00000262941.6_3'UTR|ZSCAN25_ENST00000334715.3_3'UTR NM_145115.2 NP_660090.2 Q6NSZ9 ZSC25_HUMAN zinc finger and SCAN domain containing 25 NA NA transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) NA CTGCACTGACTGGGTCGTAAA 0.488 NA t||| 1732 0.345847 0.6967 0.1931 5008 , , NA 20164 0.2877 NA 0.0596 False NA ,,, NA NA NA 2504 0.3344 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK057030 CCDS5671.2 7q22.1 2013-01-09 2013-01-09 2013-01-09 ENSG00000197037 ENSG00000197037 221785 -, Zinc fingers, C2H2-type 21961 protein-coding gene gene with protein product zinc finger protein 498 ZNF498 NA 11179890 Standard NM_145115 XM_005250194 NA Approved FLJ32468 uc003url.1 Q6NSZ9 OTTHUMG00000074055 ENST00000394152.2:c.*1792T>C chr7.hg19:g.99229435T>C NA A4D290|D6W5T5|Q14C82|Q14C99|Q5EBM9|Q6DJZ0|Q6N032|Q6ZML3 hg19 CCDS5671.2 0.02 10.544748 GACxGGG COVERED NOVEL ZSCAN25-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000157203.4 2 14.743015 KEEP 0 0 0 49 1522 TT 1 1 0 + 17 60 601 1 0 39.967547 279 60 10215 402 ENST00000394152.2 0.057432 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 99235522 99235522 __UNKNOWN__ IGR SNP C C T rs6465750 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:99235522C>T NA NA ZSCAN25 (5492 upstream) : CYP3A5 (10294 downstream) NA NA NA AAAGCATACACAGGAAAATGA 0.358 NA T||| 1889 0.377196 0.82 0.2032 5008 , , NA 18892 0.2808 NA 0.0567 False NA ,,, NA NA NA 2504 0.3313 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.99235522C>T NA hg19 0.02 8.992238 ACAxAGG COVERED NOVEL 0 4 5.751667 KEEP 0 1 22 27 922 CC 0.999997 0.999997 0 23 60 858 0 0 63.601251 223 60 8325 289 0.093496 1 CYP3A5 1577 __UNKNOWN__ __UNKNOWN__ 7 99245914 99245914 __UNKNOWN__ 3'UTR SNP A A G rs15524 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:99245914A>G ENST00000222982.4 - 0 1622 CYP3A5_ENST00000339843.2_3'UTR|CYP3A5_ENST00000343703.5_3'UTR NM_000777.3 NP_000768.1 P20815 CP3A5_HUMAN cytochrome P450, family 3, subfamily A, polypeptide 5 NA NA alkaloid catabolic process (GO:0009822)|drug catabolic process (GO:0042737)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805) endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231) aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825) NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166) ado-trastuzumab emtansine(DB05773)|Alfentanil(DB00802)|Alprazolam(DB00404)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Apixaban(DB06605)|Aprepitant(DB00673)|Argatroban(DB00278)|Aripiprazole(DB01238)|Artemether(DB06697)|Astemizole(DB00637)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Beclomethasone(DB00394)|Boceprevir(DB08873)|Brentuximab vedotin(DB08870)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clonidine(DB00575)|Clopidogrel(DB00758)|Cocaine(DB00907)|Codeine(DB00318)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diltiazem(DB00343)|Disulfiram(DB00822)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Dutasteride(DB01126)|Enzalutamide(DB08899)|Eplerenone(DB00700)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Ethosuximide(DB00593)|Etoposide(DB00773)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluticasone Propionate(DB00588)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gestodene(DB06730)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Losartan(DB00678)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Modafinil(DB00745)|Mycophenolate mofetil(DB00688)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxcarbazepine(DB00776)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Pentamidine(DB00738)|Perampanel(DB08883)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinine(DB00468)|Ranitidine(DB00863)|Reserpine(DB00206)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Rosuvastatin(DB01098)|Salmeterol(DB00938)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Teniposide(DB00444)|Testosterone(DB00624)|Thalidomide(DB01041)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Troleandomycin(DB01361)|Udenafil(DB06267)|Valproic Acid(DB00313)|Vardenafil(DB00862)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425) CAAAGTAGAAATCCTTAGAAT 0.378 NA G||| 1743 0.348043 0.6944 0.1916 5008 , , NA 19776 0.2986 NA 0.0596 False NA ,,, NA NA NA 2504 0.3384 NA NA NA NA 0 G 2517,1889 541.1+/-375.7 715,1087,401 85 82 83 -0.5 0 7 dbSNP_52 83 674,7926 787.5+/-407.6 32,610,3658 no utr-3 CYP3A5 NM_000777.3 747,1697,4059 GG,GA,AA 7.8372,42.8734,24.5348 99245914 3191,9815 2203 4300 6503 SO:0001624 3_prime_UTR_variant L26985 CCDS5672.1, CCDS55134.1 7q21.1 2007-12-14 2003-01-14 ENSG00000106258 ENSG00000106258 1577 Cytochrome P450s 2638 protein-coding gene gene with protein product 605325 cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 5 NA Standard NR_033808 NA Approved PCN3, P450PCN3, CP35 P20815 OTTHUMG00000156724 ENST00000222982.4:c.*14T>C chr7.hg19:g.99245914A>G NA A4D289|B7Z5I7|Q53WY8|Q75MV0|Q9HB56 hg19 CCDS5672.1 0.02 21.33227 GAAxTCC COVERED NOVEL CYP3A5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000345469.1 0 19.859776 KEEP 0 0 0 66 2105 AA 1 1 0 - 26 60 967 0 0 66.007928 425 60 15675 655 ENST00000222982.4 0.05765 1 CYP3A5 1577 __UNKNOWN__ __UNKNOWN__ 7 99269397 99269397 __UNKNOWN__ Intron SNP T T C rs6977165 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:99269397T>C ENST00000222982.4 - 4 418 CYP3A5_ENST00000480723.1_Intron|CYP3A5_ENST00000339843.2_Intron|CYP3A5_ENST00000343703.5_Intron|CYP3A5_ENST00000439761.1_Nonstop_Mutation_p.*141W NM_000777.3 NP_000768.1 P20815 CP3A5_HUMAN cytochrome P450, family 3, subfamily A, polypeptide 5 NA NA alkaloid catabolic process (GO:0009822)|drug catabolic process (GO:0042737)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805) endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231) aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825) NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166) ado-trastuzumab emtansine(DB05773)|Alfentanil(DB00802)|Alprazolam(DB00404)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Apixaban(DB06605)|Aprepitant(DB00673)|Argatroban(DB00278)|Aripiprazole(DB01238)|Artemether(DB06697)|Astemizole(DB00637)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Beclomethasone(DB00394)|Boceprevir(DB08873)|Brentuximab vedotin(DB08870)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clonidine(DB00575)|Clopidogrel(DB00758)|Cocaine(DB00907)|Codeine(DB00318)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diltiazem(DB00343)|Disulfiram(DB00822)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Dutasteride(DB01126)|Enzalutamide(DB08899)|Eplerenone(DB00700)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Ethosuximide(DB00593)|Etoposide(DB00773)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluticasone Propionate(DB00588)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gestodene(DB06730)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Losartan(DB00678)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Modafinil(DB00745)|Mycophenolate mofetil(DB00688)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxcarbazepine(DB00776)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Pentamidine(DB00738)|Perampanel(DB08883)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinine(DB00468)|Ranitidine(DB00863)|Reserpine(DB00206)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Rosuvastatin(DB01098)|Salmeterol(DB00938)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Teniposide(DB00444)|Testosterone(DB00624)|Thalidomide(DB01041)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Troleandomycin(DB01361)|Udenafil(DB06267)|Valproic Acid(DB00313)|Vardenafil(DB00862)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425) atagaacctgtcagagaaaaa 0.413 NA T||| 325 0.0648962 0.146 0.0519 5008 , , NA 19250 0.0298 NA 0.0308 False NA ,,, NA NA NA 2504 0.0358 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L26985 CCDS5672.1, CCDS55134.1 7q21.1 2007-12-14 2003-01-14 ENSG00000106258 ENSG00000106258 1577 Cytochrome P450s 2638 protein-coding gene gene with protein product 605325 cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 5 NA Standard NR_033808 NA Approved PCN3, P450PCN3, CP35 P20815 OTTHUMG00000156724 ENST00000222982.4:c.318+805A>G chr7.hg19:g.99269397T>C NA A4D289|B7Z5I7|Q53WY8|Q75MV0|Q9HB56 hg19 CCDS5672.1 0.02 20.057969 CTGxCAG COVERED 144 0.06593406593406594 80 0.16260162601626016 22 0.06077348066298342 16 0.027972027972027972 26 0.03430079155672823 T 0.019 -1.464956 0.01053 . . ENSG00000106258 ENST00000439761 . . . 0.661 -1.32 0.09201 . . . . . . . . . . . 0.80722 P 0.0 . . . . . . . . . . . . . . . . . rs6977165;rs6977165 . . . W 141 . . X - 3 0 CYP3A5 99107333 0.005000 0.15991 0.001000 0.08648 0.062000 0.15995 -0.022000 0.12480 -0.498000 0.06632 0.172000 0.16884 TGA NOVEL CYP3A5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000345469.1 3 24.672734 KEEP 0 0 0 82 2609 TT 1 1 0 - 17 60 594 0 0 36.382552 442 60 15853 664 ENST00000222982.4 0.037037 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 99293358 99293358 __UNKNOWN__ IGR SNP A A G rs72494453 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:99293358A>G NA NA CYP3A5 (15737 upstream) : CYP3A7 (9308 downstream) NA NA NA AGTGAGCTCAAAAACACTCAC 0.453 NA A||| 619 0.123602 0.0023 0.085 5008 , , NA 21126 0.2589 NA 0.0189 False NA ,,, NA NA NA 2504 0.2832 NA NA NA NA 0 A 14,1738 0,14,862 41 36 38 2 0 7 dbSNP_130 38 90,3892 1,88,1902 no intergenic 1,102,2764 GG,GA,AA 2.2602,0.7991,1.8137 99293358 104,5630 876 1991 2867 SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.99293358A>G NA hg19 0.02 2.280189 TCAxAAA COVERED NOVEL 0 0 3.611015 KEEP 0 0 0 12 385 AA 0.993634 0.993515 0 8 60 305 0 0 22.515109 84 60 2987 115 0.086957 0.999881 CYP3A4 1576 __UNKNOWN__ __UNKNOWN__ 7 99361466 99361466 __UNKNOWN__ Intron SNP C C T rs2242480 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:99361466C>T ENST00000336411.2 - 10 1210 CYP3A4_ENST00000354593.2_Intron NM_001202855.2|NM_017460.5 NP_001189784.1|NP_059488.2 P08684 CP3A4_HUMAN cytochrome P450, family 3, subfamily A, polypeptide 4 NA NA alkaloid catabolic process (GO:0009822)|androgen metabolic process (GO:0008209)|calcitriol biosynthetic process from calciol (GO:0036378)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|lipid metabolic process (GO:0006629)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805) cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231) albendazole monooxygenase activity (GO:0047638)|caffeine oxidase activity (GO:0034875)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)|quinine 3-monooxygenase activity (GO:0050591)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395)|taurochenodeoxycholate 6alpha-hydroxylase activity (GO:0033780)|testosterone 6-beta-hydroxylase activity (GO:0050649)|vitamin D 24-hydroxylase activity (GO:0070576)|vitamin D3 25-hydroxylase activity (GO:0030343) breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2) 18 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) Abiraterone(DB05812)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetazolamide(DB00819)|Adinazolam(DB00546)|ado-trastuzumab emtansine(DB05773)|Albendazole(DB00518)|Alclometasone(DB00240)|Aldesleukin(DB00041)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Alimemazine(DB01246)|Aliskiren(DB01258)|Allylestrenol(DB01431)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alosetron(DB00969)|Alprazolam(DB00404)|Ambroxol(DB06742)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Argatroban(DB00278)|Aripiprazole(DB01238)|Arsenic trioxide(DB01169)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atazanavir(DB01072)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Avanafil(DB06237)|Axitinib(DB06626)|Azatadine(DB00719)|Azelastine(DB00972)|Azithromycin(DB00207)|Bedaquiline(DB08903)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bezafibrate(DB01393)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bisoprolol(DB00612)|Boceprevir(DB08873)|Bortezomib(DB00188)|Bosentan(DB00559)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Brinzolamide(DB01194)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Brompheniramine(DB00835)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Busulfan(DB01008)|Cabazitaxel(DB06772)|Cabergoline(DB00248)|Cabozantinib(DB08875)|Caffeine(DB00201)|Calcitriol(DB00136)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Caspofungin(DB00520)|Cefradine(DB01333)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chenodeoxycholic acid(DB06777)|Chloramphenicol(DB00446)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clemastine(DB00283)|Clevidipine(DB04920)|Clindamycin(DB01190)|Clobazam(DB00349)|Clofazimine(DB00845)|Clofibrate(DB00636)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonazepam(DB01068)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Colchicine(DB01394)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cortisone acetate(DB01380)|Crizotinib(DB08865)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Cytarabine(DB00987)|Dabrafenib(DB08912)|Dalfopristin(DB01764)|Danazol(DB01406)|Dantrolene(DB01219)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Deferasirox(DB01609)|Delavirdine(DB00705)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Dicloxacillin(DB00485)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydrocodeine(DB01551)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Disopyramide(DB00280)|Disulfiram(DB00822)|Docetaxel(DB01248)|Dofetilide(DB00204)|Dolasetron(DB00757)|Dolutegravir(DB08930)|Domperidone(DB01184)|Donepezil(DB00843)|Dorzolamide(DB00869)|Doxepin(DB01142)|Doxorubicin(DB00997)|Doxycycline(DB00254)|Dronabinol(DB00470)|Dronedarone(DB04855)|Dutasteride(DB01126)|Econazole(DB01127)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Epinephrine(DB00668)|Eplerenone(DB00700)|Ergocalciferol(DB00153)|Ergoloid mesylate(DB01049)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Estradiol valerate/Dienogest(DB08866)|Estradiol(DB00783)|Estramustine(DB01196)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Etravirine(DB06414)|Everolimus(DB01590)|Exemestane(DB00990)|Ezetimibe(DB00973)|Famciclovir(DB00426)|Felbamate(DB00949)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Finasteride(DB01216)|Fingolimod(DB08868)|Flucloxacillin(DB00301)|Fluconazole(DB00196)|Flunisolide(DB00180)|Flunitrazepam(DB01544)|Fluorometholone(DB00324)|Fluoxetine(DB00472)|Flurazepam(DB00690)|Flutamide(DB00499)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosamprenavir(DB01319)|Fosphenytoin(DB01320)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Glipizide(DB01067)|Glyburide(DB01016)|Granisetron(DB00889)|Griseofulvin(DB00400)|Guanethidine(DB01170)|Guanfacine(DB01018)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Hydralazine(DB01275)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|Indacaterol(DB05039)|Indapamide(DB00808)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Irinotecan(DB00762)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ixabepilone(DB04845)|Josamycin(DB01321)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Levomethadyl Acetate(DB01227)|Levomilnacipran(DB08918)|Levonorgestrel(DB00367)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Lisuride(DB00589)|Lomitapide(DB08827)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumefantrine(DB06708)|Lurasidone(DB08815)|MACITENTAN(DB08932)|Maraviroc(DB04835)|Mebendazole(DB00643)|Medroxyprogesterone Acetate(DB00603)|Mefloquine(DB00358)|Meloxicam(DB00814)|Mequitazine(DB01071)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Methylergometrine(DB00353)|Methylprednisolone(DB00959)|Methyltestosterone(DB06710)|Metronidazole(DB00916)|Metyrapone(DB01011)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Mitoxantrone(DB01204)|Modafinil(DB00745)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nafcillin(DB00607)|Naloxone(DB01183)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nitric Oxide(DB00435)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Omeprazole(DB00338)|Ondansetron(DB00904)|Orlistat(DB01083)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Oxazepam(DB00842)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paramethasone(DB01384)|Paricalcitol(DB00910)|Pazopanib(DB06589)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perampanel(DB08883)|Pergolide(DB01186)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenoxybenzamine(DB00925)|Phenprocoumon(DB00946)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pilocarpine(DB01085)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Prazepam(DB01588)|Praziquantel(DB01058)|Prednisolone(DB00860)|Prednisone(DB00635)|Primaquine(DB01087)|Primidone(DB00794)|Probenecid(DB01032)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Pyridostigmine(DB00545)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Quinupristin(DB01369)|Rabeprazole(DB01129)|Raloxifene(DB00481)|Ramelteon(DB00980)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Regorafenib(DB08896)|Repaglinide(DB00912)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rifapentine(DB01201)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Rimonabant(DB06155)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Rivastigmine(DB00989)|Rolitetracycline(DB01301)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosuvastatin(DB01098)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Rufinamide(DB06201)|Ruxolitinib(DB08877)|Salbutamol(DB01001)|Salmeterol(DB00938)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sevoflurane(DB01236)|Sibutramine(DB01105)|Sildenafil(DB00203)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Sitaxentan(DB06268)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sufentanil(DB00708)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfanilamide(DB00259)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tasosartan(DB01349)|Telaprevir(DB05521)|Telithromycin(DB00976)|Temazepam(DB00231)|Temozolomide(DB00853)|Temsirolimus(DB06287)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Thiopental(DB00599)|Thiotepa(DB04572)|Tiagabine(DB00906)|Ticagrelor(DB08816)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tioconazole(DB01007)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tofisopam(DB08811)|Tolterodine(DB01036)|Tolvaptan(DB06212)|Topiramate(DB00273)|Topotecan(DB01030)|Toremifene(DB00539)|Trabectedin(DB05109)|Tramadol(DB00193)|Trametinib(DB08911)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Tretinoin(DB00755)|Triamcinolone(DB00620)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Udenafil(DB06267)|Valproic Acid(DB00313)|Vandetanib(DB05294)|Vardenafil(DB00862)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Zidovudine(DB00495)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)|Zopiclone(DB01198) TCTCCATGTACCATCCACTCA 0.433 NA T||| 2112 0.421725 0.8502 0.3934 5008 , , NA 19260 0.2679 NA 0.0815 False NA ,,, NA NA NA 2504 0.3712 NA NA NA NA 0 T , 3140,1266 431.8+/-343.0 1128,884,191 52 48 49 , -2.2 0 7 dbSNP_98 49 831,7769 781.2+/-407.6 44,743,3513 no intron,intron CYP3A4 NM_001202855.2,NM_017460.5 , 1172,1627,3704 TT,TC,CC 9.6628,28.7335,30.5321 , , 99361466 3971,9035 2203 4300 6503 SO:0001627 intron_variant AF280107 CCDS5674.1 7q21.1 2011-06-21 2003-01-14 ENSG00000160868 ENSG00000160868 1576 1.1.1.161 Cytochrome P450s 2637 protein-coding gene gene with protein product 124010 cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 4 CYP3A3 NA 8269949, 1391968 Standard NM_001202855 NA Approved uc003urv.2 P08684 OTTHUMG00000156651 ENST00000336411.2:c.1026+11G>A chr7.hg19:g.99361466C>T NA P05184|Q16757|Q9UK50 hg19 CCDS5674.1 0.02 4.74845 GTAxCAT COVERED NOVEL CYP3A4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000345059.1 1 6.019601 KEEP 0 0 0 20 705 CC 0.999863 0.99986 0 - 9 60 349 0 0 25.416295 108 70 4003 159 ENST00000336411.2 0.076923 0.999998 AZGP1P1 646282 __UNKNOWN__ __UNKNOWN__ 7 99578535 99578535 __UNKNOWN__ RNA SNP G G A rs137865884 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:99578535G>A ENST00000425474.1 + 0 87 NR_036679.1 alpha-2-glycoprotein 1, zinc-binding pseudogene 1 NA NA NA AACAGGACATGTGGCTGGGAG 0.592 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AW995302 7q22.1 2010-04-16 2006-11-07 ENSG00000214313 ENSG00000214313 646282 911 pseudogene pseudogene alpha-2-glycoprotein 1, zinc pseudogene 1 NA 8241150, 8307568 Standard NR_036679 NA Approved uc003usi.2 OTTHUMG00000156513 ENST00000425474.1: chr7.hg19:g.99578535G>A NA hg19 0.02 4.017936 CATxTGG COVERED NOVEL AZGP1P1-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000344467.1 0 3.912548 KEEP 0 0 0 13 461 GG 0.994391 0.994391 0 + 5 60 182 0 0 11.352056 127 60 4789 172 ENST00000425474.1 0.037879 1 MCM7 4176 __UNKNOWN__ __UNKNOWN__ 7 99691740 99691740 __UNKNOWN__ Intron SNP G G A rs1527423 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:99691740G>A ENST00000303887.5 - 13 2494 MCM7_ENST00000354230.3_Intron|MCM7_ENST00000343023.6_Intron NM_005916.3 NP_005907.3 P33993 MCM7_HUMAN minichromosome maintenance complex component 7 NA NA cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of phosphorylation (GO:0042325)|response to drug (GO:0042493) chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697) endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1) 17 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) AGCACGGTAAGGAGCTACCCC 0.602 NA G||| 2689 0.536941 0.2194 0.5865 5008 , , NA 19050 0.8026 NA 0.5358 False NA ,,, NA NA NA 2504 0.6585 NA NA NA NA 0 G , 888,2248 117,654,797 70 68 69 , 0.3 0 7 dbSNP_88 69 3829,3335 1032,1765,785 no intron,intron MCM7 NM_005916.3,NM_182776.1 , 1149,2419,1582 AA,AG,GG 46.5522,28.3163,45.7961 , , 99691740 4717,5583 1568 3582 5150 SO:0001627 intron_variant CCDS5683.1, CCDS5684.1 7q21.3-q22.1 2014-06-12 2007-04-04 ENSG00000166508 ENSG00000166508 4176 6950 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 104 600592 minichromosome maintenance deficient (S. cerevisiae) 7, MCM7 minichromosome maintenance deficient 7 (S. cerevisiae) MCM2 NA 7842741 Standard NM_005916 NA Approved CDC47, PPP1R104 uc003usw.1 P33993 OTTHUMG00000154671 ENST00000303887.5:c.1848+55C>T chr7.hg19:g.99691740G>A NA A4D2A1|A4D2A2|E9PGN9|Q15076|Q96D34|Q96GL1 hg19 CCDS5683.1 0.02 13.724418 TAAxGAG COVERED NOVEL MCM7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000336534.3 1 18.961217 KEEP 0 0 0 63 2207 GG 1 1 0 - 19 60 695 0 0 47.597953 289 60 10672 437 ENST00000303887.5 0.061688 1 MCM7 4176 __UNKNOWN__ __UNKNOWN__ 7 99696797 99696797 __UNKNOWN__ Missense_Mutation SNP T T C rs2070215 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:99696797T>C ENST00000303887.5 - 5 1076 c.431A>G c.(430-432)aAc>aGc p.N144S MCM7_ENST00000354230.3_5'UTR|MCM7_ENST00000343023.6_Missense_Mutation_p.N144S NM_005916.3 NP_005907.3 P33993 MCM7_HUMAN minichromosome maintenance complex component 7 144 NA N -> S (in dbSNP:rs2070215). {ECO:0000269|PubMed:8626784}. cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of phosphorylation (GO:0042325)|response to drug (GO:0042493) chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697) p.N144S(1) endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1) 17 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) ACGAGGCTTGTTGCTGCTAGG 0.512 NA T||| 981 0.195887 0.0129 0.1902 5008 , , NA 20215 0.2758 NA 0.2734 False NA ,,, NA NA NA 2504 0.2853 NA NA NA NA 1 Substitution - Missense(1) stomach(1) T SER/ASN, 287,4119 158.5+/-191.2 7,273,1923 110 105 107 431, -3.6 0.9 7 dbSNP_96 107 2459,6141 405.7+/-348.6 355,1749,2196 yes missense,utr-5 MCM7 NM_005916.3,NM_182776.1 46, 362,2022,4119 CC,CT,TT 28.593,6.5138,21.1133 benign, 144/720, 99696797 2746,10260 2203 4300 6503 SO:0001583 missense CCDS5683.1, CCDS5684.1 7q21.3-q22.1 2014-06-12 2007-04-04 ENSG00000166508 ENSG00000166508 4176 6950 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 104 600592 minichromosome maintenance deficient (S. cerevisiae) 7, MCM7 minichromosome maintenance deficient 7 (S. cerevisiae) MCM2 NA 7842741 Standard NM_005916 NA Approved CDC47, PPP1R104 uc003usw.1 P33993 OTTHUMG00000154671 ENST00000303887.5:c.431A>G chr7.hg19:g.99696797T>C ENSP00000307288:p.Asn144Ser NA A4D2A1|A4D2A2|E9PGN9|Q15076|Q96D34|Q96GL1 hg19 CCDS5683.1 0.02 10.117541 TTGxTGC COVERED 435 0.19917582417582416 10 0.02032520325203252 73 0.20165745856353592 147 0.256993006993007 205 0.2704485488126649 T 2.044 -0.419462 0.04766 0.065138 0.28593 ENSG00000166508 ENST00000343023;ENST00000303887;ENST00000542483;ENST00000362082;ENST00000425308 T;T;T 0.10382 2.88;2.88;2.88 4.58 -3.6 0.04570 Nucleic acid-binding, OB-fold-like (1); 0.790345 0.12308 N 0.480423 T 0.00012 0.0000 N 0.00729 -1.24 0.53005 P 3.2000000000032E-5 B 0.02656 0.0 B 0.01281 0.0 T 0.40572 -0.9556 9 0.06494 T 0.89 -10.0949 7.4761 0.27376 0.0:0.4978:0.2936:0.2086 rs2070215;rs17447420;rs17845219;rs17858032;rs57620700;rs2070215 144 P33993 MCM7_HUMAN S 144;144;81;37;37 ENSP00000344006:N144S;ENSP00000307288:N144S;ENSP00000411295:N37S ENSP00000307288:N144S N - 2 0 MCM7 99534733 0.002000 0.14202 0.910000 0.35882 0.915000 0.54546 -0.062000 0.11674 -0.576000 0.05974 0.379000 0.24179 AAC NOVEL MCM7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000336534.3 2 60.473404 KEEP 0 0 0 201 6276 TT 1 1 0 - 10 60 344 0 0 20.192052 289 60 10129 610 ENST00000303887.5 0.033445 1 MCM7 4176 __UNKNOWN__ __UNKNOWN__ 7 99699169 99699169 __UNKNOWN__ 5'UTR SNP A A T rs1534310 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:99699169A>T ENST00000303887.5 - 0 394 MCM7_ENST00000343023.6_5'UTR NM_005916.3 NP_005907.3 P33993 MCM7_HUMAN minichromosome maintenance complex component 7 NA NA cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of phosphorylation (GO:0042325)|response to drug (GO:0042493) chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697) endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1) 17 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GTCGGAAGGGAATCTCCGGGC 0.667 NA A||| 1388 0.277157 0.1589 0.2277 5008 , , NA 11019 0.4028 NA 0.2753 False NA ,,, NA NA NA 2504 0.3446 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant CCDS5683.1, CCDS5684.1 7q21.3-q22.1 2014-06-12 2007-04-04 ENSG00000166508 ENSG00000166508 4176 6950 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 104 600592 minichromosome maintenance deficient (S. cerevisiae) 7, MCM7 minichromosome maintenance deficient 7 (S. cerevisiae) MCM2 NA 7842741 Standard NM_005916 NA Approved CDC47, PPP1R104 uc003usw.1 P33993 OTTHUMG00000154671 ENST00000303887.5:c.-252T>A chr7.hg19:g.99699169A>T NA A4D2A1|A4D2A2|E9PGN9|Q15076|Q96D34|Q96GL1 hg19 CCDS5683.1 0.02 6.026096 GGGxATC COVERED NOVEL MCM7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000336534.3 1 62.106052 KEEP 0 1 18 213 6418 AA 1 1 0 - 11 60 382 0 0 25.295645 176 60 6115 545 ENST00000303887.5 0.058824 1 AP4M1 9179 __UNKNOWN__ __UNKNOWN__ 7 99699626 99699626 __UNKNOWN__ Intron SNP T T C rs2293481 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:99699626T>C ENST00000359593.4 + 2 305 AP4M1_ENST00000478501.1_3'UTR|AP4M1_ENST00000429084.1_Intron|AP4M1_ENST00000421755.1_Intron NM_004722.3 NP_004713.2 O00189 AP4M1_HUMAN adaptor-related protein complex 4, mu 1 subunit NA NA Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192) AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|Golgi trans cisterna (GO:0000138)|trans-Golgi network (GO:0005802) transporter activity (GO:0005215) breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1) 17 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) AGGAGCGGGGTCCCGTCGGGC 0.642 NA C||| 3279 0.654752 0.5098 0.6527 5008 , , NA 8468 0.8472 NA 0.5964 False NA ,,, NA NA NA 2504 0.7137 NA NA NA Pancreas(174;1182 2812 29595 49511) NA 0 C 2483,1903 713,1057,423 12 15 14 -6.4 0 7 dbSNP_100 14 5073,3499 1511,2051,724 no intron AP4M1 NM_004722.3 2224,3108,1147 CC,CT,TT 40.8189,43.3881,41.6885 99699626 7556,5402 2193 4286 6479 SO:0001627 intron_variant Y08387 CCDS5685.1 7q22.1 2012-06-29 ENSG00000221838 ENSG00000221838 9179 574 protein-coding gene gene with protein product mu-adaptin-related protein-2, mu subunit of AP-4, AP-4 adapter complex mu subunit, adaptor-related protein complex AP-4 mu4 subunit 602296 NA 9013859, 10066790, 21620353 Standard NM_004722 NM_004722 NA Approved MU-ARP2, MU-4, SPG50 uc003utb.4 O00189 OTTHUMG00000154722 ENST00000359593.4:c.147+35T>C chr7.hg19:g.99699626T>C NA D6W5U1|Q8WV65|Q9UHK9 hg19 CCDS5685.1 0.02 4.507022 GGGxCCC COVERED NOVEL AP4M1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000336772.4 1 18.103724 KEEP 0 2 67 84 2452 TT 1 0.999999 0 + 5 60 185 0 0 11.831347 118 60 3576 302 ENST00000359593.4 0.04065 0.999999 AP4M1 9179 __UNKNOWN__ __UNKNOWN__ 7 99701176 99701176 __UNKNOWN__ Intron SNP G G A rs999885 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:99701176G>A ENST00000359593.4 + 5 620 AP4M1_ENST00000429084.1_Intron|AP4M1_ENST00000421755.1_Intron|AP4M1_ENST00000422582.1_Intron NM_004722.3 NP_004713.2 O00189 AP4M1_HUMAN adaptor-related protein complex 4, mu 1 subunit NA NA Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192) AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|Golgi trans cisterna (GO:0000138)|trans-Golgi network (GO:0005802) transporter activity (GO:0005215) breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1) 17 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TGAGGAAAGAGAAGAGGGGTT 0.532 NA G||| 2690 0.537141 0.2201 0.5893 5008 , , NA 19357 0.8075 NA 0.5278 False NA ,,, NA NA NA 2504 0.6595 NA NA NA Pancreas(174;1182 2812 29595 49511) NA 0 G 1262,3144 433.5+/-343.6 180,902,1121 135 148 144 0.8 0 7 dbSNP_86 144 4587,4013 598.1+/-393.9 1218,2151,931 no intron AP4M1 NM_004722.3 1398,3053,2052 AA,AG,GG 46.6628,28.6428,44.9716 99701176 5849,7157 2203 4300 6503 SO:0001627 intron_variant Y08387 CCDS5685.1 7q22.1 2012-06-29 ENSG00000221838 ENSG00000221838 9179 574 protein-coding gene gene with protein product mu-adaptin-related protein-2, mu subunit of AP-4, AP-4 adapter complex mu subunit, adaptor-related protein complex AP-4 mu4 subunit 602296 NA 9013859, 10066790, 21620353 Standard NM_004722 NM_004722 NA Approved MU-ARP2, MU-4, SPG50 uc003utb.4 O00189 OTTHUMG00000154722 ENST00000359593.4:c.462+34G>A chr7.hg19:g.99701176G>A NA D6W5U1|Q8WV65|Q9UHK9 hg19 CCDS5685.1 0.02 10.359973 AGAxAAG COVERED NOVEL AP4M1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000336772.4 1 18.658353 KEEP 0 0 0 62 2106 GG 1 1 0 + 18 60 630 0 0 43.183728 242 60 9065 366 ENST00000359593.4 0.069231 1 AP4M1 9179 __UNKNOWN__ __UNKNOWN__ 7 99701640 99701640 __UNKNOWN__ Intron SNP T T C rs4729577 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:99701640T>C ENST00000359593.4 + 7 701 AP4M1_ENST00000429084.1_Intron|AP4M1_ENST00000421755.1_Intron|AP4M1_ENST00000422582.1_Intron NM_004722.3 NP_004713.2 O00189 AP4M1_HUMAN adaptor-related protein complex 4, mu 1 subunit NA NA Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192) AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|Golgi trans cisterna (GO:0000138)|trans-Golgi network (GO:0005802) transporter activity (GO:0005215) breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1) 17 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) ACTGTCCTGTTCTTTCTCCCT 0.488 NA C||| 3290 0.656949 0.5182 0.6527 5008 , , NA 17354 0.8472 NA 0.5964 False NA ,,, NA NA NA 2504 0.7137 NA NA NA Pancreas(174;1182 2812 29595 49511) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Y08387 CCDS5685.1 7q22.1 2012-06-29 ENSG00000221838 ENSG00000221838 9179 574 protein-coding gene gene with protein product mu-adaptin-related protein-2, mu subunit of AP-4, AP-4 adapter complex mu subunit, adaptor-related protein complex AP-4 mu4 subunit 602296 NA 9013859, 10066790, 21620353 Standard NM_004722 NM_004722 NA Approved MU-ARP2, MU-4, SPG50 uc003utb.4 O00189 OTTHUMG00000154722 ENST00000359593.4:c.544-75T>C chr7.hg19:g.99701640T>C NA D6W5U1|Q8WV65|Q9UHK9 hg19 CCDS5685.1 0.02 6.992164 TGTxCTT COVERED NOVEL AP4M1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000336772.4 0 10.49925 KEEP 0 2 69 59 1818 TT 1 1 0 + 10 60 380 0 0 26.027297 169 60 6096 292 ENST00000359593.4 0.055866 1 AP4M1 9179 __UNKNOWN__ __UNKNOWN__ 7 99703958 99703958 __UNKNOWN__ Intron SNP T T C rs2293479 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:99703958T>C ENST00000359593.4 + 13 1183 AP4M1_ENST00000429084.1_Intron|AP4M1_ENST00000421755.1_Intron|AP4M1_ENST00000422582.1_Intron NM_004722.3 NP_004713.2 O00189 AP4M1_HUMAN adaptor-related protein complex 4, mu 1 subunit NA NA Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192) AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|Golgi trans cisterna (GO:0000138)|trans-Golgi network (GO:0005802) transporter activity (GO:0005215) breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1) 17 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GGGGAGAGAGTGAGCTCAGCA 0.612 NA T||| 1518 0.303115 0.1679 0.2435 5008 , , NA 16611 0.4752 NA 0.2922 False NA ,,, NA NA NA 2504 0.362 NA NA NA Pancreas(174;1182 2812 29595 49511) NA 0 T 870,3536 341.2+/-306.6 77,716,1410 49 46 47 2.3 0 7 dbSNP_100 47 2620,5980 422.4+/-354.0 397,1826,2077 no intron AP4M1 NM_004722.3 474,2542,3487 CC,CT,TT 30.4651,19.7458,26.8338 99703958 3490,9516 2203 4300 6503 SO:0001627 intron_variant Y08387 CCDS5685.1 7q22.1 2012-06-29 ENSG00000221838 ENSG00000221838 9179 574 protein-coding gene gene with protein product mu-adaptin-related protein-2, mu subunit of AP-4, AP-4 adapter complex mu subunit, adaptor-related protein complex AP-4 mu4 subunit 602296 NA 9013859, 10066790, 21620353 Standard NM_004722 NM_004722 NA Approved MU-ARP2, MU-4, SPG50 uc003utb.4 O00189 OTTHUMG00000154722 ENST00000359593.4:c.1025+44T>C chr7.hg19:g.99703958T>C NA D6W5U1|Q8WV65|Q9UHK9 hg19 CCDS5685.1 0.02 8.562609 GAGxGAG COVERED NOVEL AP4M1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000336772.4 1 13.823789 KEEP 0 0 0 46 1352 TT 1 1 0 + 8 60 296 0 0 18.765516 196 60 6778 317 ENST00000359593.4 0.039216 1 TAF6 6878 __UNKNOWN__ __UNKNOWN__ 7 99707712 99707712 __UNKNOWN__ Intron SNP A A G rs2272338 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:99707712A>G ENST00000437822.2 - 12 1364 TAF6_ENST00000418432.2_Intron|TAF6_ENST00000472509.1_Intron|AP4M1_ENST00000421755.1_Intron|TAF6_ENST00000453269.2_Intron|TAF6_ENST00000344095.4_Intron|TAF6_ENST00000452041.1_Intron NM_001190415.1 NP_001177344.1 P49848 TAF6_HUMAN TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa NA NA DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032) cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2) 26 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) AGAAGGGAAAAGGACAAGCAA 0.577 NA G||| 3295 0.657947 0.5182 0.6527 5008 , , NA 18554 0.8472 NA 0.5984 False NA ,,, NA NA NA 2504 0.7168 NA NA NA NA 0 G ,, 2467,1939 548.1+/-377.4 686,1095,422 88 93 91 ,, -1.2 0 7 dbSNP_100 91 4993,3607 519.6+/-379.5 1429,2135,736 no intron,intron,intron TAF6 NM_001190415.1,NM_005641.3,NM_139315.2 ,, 2115,3230,1158 GG,GA,AA 41.9419,44.0082,42.6419 ,, ,, 99707712 7460,5546 2203 4300 6503 SO:0001627 intron_variant CCDS5686.1, CCDS55135.1 7q 2010-02-26 2002-08-29 2001-12-07 ENSG00000106290 ENSG00000106290 6878 11540 protein-coding gene gene with protein product TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80 kD, transcription initiation factor TFIID 70 kD subunit 602955 TATA box binding protein (TBP)-associated factor, RNA polymerase II, E, 70/85kD TAF2E NA 826207 Standard NM_005641 NM_139315 NA Approved TAFII70, TAFII80, MGC:8964, TAFII85 uc011kji.2 P49848 OTTHUMG00000154771 ENST00000437822.2:c.1270-16T>C chr7.hg19:g.99707712A>G NA A4D2B2|A4D2B3|B4DT11|D6W5U2|Q6AI29 hg19 CCDS55135.1 0.02 16.714518 AAAxGGA COVERED NOVEL TAF6-002 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000337137.2 1 20.761125 KEEP 0 0 0 69 2166 AA 1 1 0 - 27 60 994 0 0 70.127951 349 60 12594 525 ENST00000437822.2 0.071809 1 TAF6 6878 __UNKNOWN__ __UNKNOWN__ 7 99707950 99707950 __UNKNOWN__ Intron SNP C C T rs4134917 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:99707950C>T ENST00000437822.2 - 11 1289 TAF6_ENST00000418432.2_Intron|TAF6_ENST00000472509.1_Intron|TAF6_ENST00000453269.2_Intron|TAF6_ENST00000344095.4_Intron|TAF6_ENST00000452041.1_Intron NM_001190415.1 NP_001177344.1 P49848 TAF6_HUMAN TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa NA NA DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032) cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2) 26 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GGATGATTGACAGGGACCTAA 0.478 NA T||| 3280 0.654952 0.5174 0.6527 5008 , , NA 21607 0.8472 NA 0.5984 False NA ,,, NA NA NA 2504 0.7025 NA NA NA NA 0 T ,, 798,586 238,322,132 47 46 46 ,, 2.8 0 7 dbSNP_108 46 1871,1311 554,763,274 no intron,intron,intron TAF6 NM_001190415.1,NM_005641.3,NM_139315.2 ,, 792,1085,406 TT,TC,CC 41.2005,42.341,41.5462 ,, ,, 99707950 2669,1897 692 1591 2283 SO:0001627 intron_variant CCDS5686.1, CCDS55135.1 7q 2010-02-26 2002-08-29 2001-12-07 ENSG00000106290 ENSG00000106290 6878 11540 protein-coding gene gene with protein product TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80 kD, transcription initiation factor TFIID 70 kD subunit 602955 TATA box binding protein (TBP)-associated factor, RNA polymerase II, E, 70/85kD TAF2E NA 826207 Standard NM_005641 NM_139315 NA Approved TAFII70, TAFII80, MGC:8964, TAFII85 uc011kji.2 P49848 OTTHUMG00000154771 ENST00000437822.2:c.1195-53G>A chr7.hg19:g.99707950C>T NA A4D2B2|A4D2B3|B4DT11|D6W5U2|Q6AI29 hg19 CCDS55135.1 0.02 19.317951 TGAxAGG COVERED NOVEL TAF6-002 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000337137.2 6 27.424649 KEEP 0 1 31 102 3632 CC 1 1 0 - 25 60 890 0 0 58.939891 428 60 16359 677 ENST00000437822.2 0.055188 1 TAF6 6878 __UNKNOWN__ __UNKNOWN__ 7 99711040 99711040 __UNKNOWN__ Intron SNP G G A rs4134903 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:99711040G>A ENST00000437822.2 - 5 603 TAF6_ENST00000418432.2_Intron|TAF6_ENST00000472509.1_Intron|TAF6_ENST00000453269.2_Intron|TAF6_ENST00000344095.4_Intron|TAF6_ENST00000452041.1_Intron NM_001190415.1 NP_001177344.1 P49848 TAF6_HUMAN TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa NA NA DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032) cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2) 26 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TGCAAGGAAGGCAGGTGTCAA 0.602 NA G||| 1382 0.275958 0.152 0.2277 5008 , , NA 16936 0.4038 NA 0.2763 False NA ,,, NA NA NA 2504 0.3456 NA NA NA NA 0 G ,, 803,3603 313.8+/-293.3 67,669,1467 33 31 32 ,, 0.4 0 7 dbSNP_108 32 2469,6131 387.9+/-342.4 355,1759,2186 no intron,intron,intron TAF6 NM_001190415.1,NM_005641.3,NM_139315.2 ,, 422,2428,3653 AA,AG,GG 28.7093,18.2251,25.1576 ,, ,, 99711040 3272,9734 2203 4300 6503 SO:0001627 intron_variant CCDS5686.1, CCDS55135.1 7q 2010-02-26 2002-08-29 2001-12-07 ENSG00000106290 ENSG00000106290 6878 11540 protein-coding gene gene with protein product TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80 kD, transcription initiation factor TFIID 70 kD subunit 602955 TATA box binding protein (TBP)-associated factor, RNA polymerase II, E, 70/85kD TAF2E NA 826207 Standard NM_005641 NM_139315 NA Approved TAFII70, TAFII80, MGC:8964, TAFII85 uc011kji.2 P49848 OTTHUMG00000154771 ENST00000437822.2:c.509-12C>T chr7.hg19:g.99711040G>A NA A4D2B2|A4D2B3|B4DT11|D6W5U2|Q6AI29 hg19 CCDS55135.1 0.02 6.439327 AAGxCAG COVERED NOVEL TAF6-002 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000337137.2 0 17.155033 KEEP 0 0 0 57 2040 GG 1 1 0 - 11 60 375 0 0 25.691586 139 60 5207 280 ENST00000437822.2 0.073333 1 CNPY4 245812 __UNKNOWN__ __UNKNOWN__ 7 99722266 99722266 __UNKNOWN__ Intron SNP G G T rs1880949 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:99722266G>T ENST00000262932.3 + 5 715 RP11-506M12.1_ENST00000494221.1_RNA|CNPY4_ENST00000480692.1_Intron NM_152755.1 NP_689968.1 Q8N129 CNPY4_HUMAN canopy FGF signaling regulator 4 NA NA extracellular region (GO:0005576) breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 7 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TAAGCGTAAGGGTTGAACTCC 0.488 NA G||| 1372 0.273962 0.1558 0.2262 5008 , , NA 16386 0.4058 NA 0.2744 False NA ,,, NA NA NA 2504 0.3313 NA NA NA NA 0 G 815,3591 327.2+/-299.9 69,677,1457 95 93 94 -2.2 0 7 dbSNP_92 94 2370,6230 396.0+/-345.2 332,1706,2262 no intron CNPY4 NM_152755.1 401,2383,3719 TT,TG,GG 27.5581,18.4975,24.4887 99722266 3185,9821 2203 4300 6503 SO:0001627 intron_variant AK075537 CCDS34701.1 7q22.1 2013-07-23 2013-07-23 ENSG00000166997 ENSG00000166997 245812 28631 protein-coding gene gene with protein product protein associated with TLR4 610047 canopy 4 homolog (zebrafish) NA 12975309 Standard NM_152755 NM_152755 NA Approved MGC40499, PRAT4B uc003uto.3 Q8N129 OTTHUMG00000154817 ENST00000262932.3:c.583+12G>T chr7.hg19:g.99722266G>T NA Q8WUN9 hg19 CCDS34701.1 0.02 5.913063 AAGxGTT COVERED NOVEL CNPY4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000337224.4 2 13.242572 KEEP 0 0 0 44 1515 GG 1 1 0 + 15 60 507 0 0 35.576524 162 60 5787 289 ENST00000262932.3 0.084746 1 GAL3ST4 79690 __UNKNOWN__ __UNKNOWN__ 7 99757612 99757612 __UNKNOWN__ Missense_Mutation SNP G G A rs3823646 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:99757612G>A ENST00000360039.4 - 4 1792 c.1400C>T c.(1399-1401)gCc>gTc p.A467V GAL3ST4_ENST00000426974.2_Missense_Mutation_p.A405V|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.A467V|GAL3ST4_ENST00000411994.1_3'UTR|GAL3ST4_ENST00000423751.1_3'UTR NM_024637.4 NP_078913.3 Q96RP7 G3ST4_HUMAN galactose-3-O-sulfotransferase 4 467 NA A -> V (in dbSNP:rs3823646). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:15498874}. cell-cell signaling (GO:0007267)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790) extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020) 3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698) cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1) 26 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GAACTGCTTGGCATCCAGCTT 0.527 NA G||| 2537 0.506589 0.3328 0.4222 5008 , , NA 18142 0.6438 NA 0.5586 False NA ,,, NA NA NA 2504 0.6063 NA NA NA NA 0 G VAL/ALA 1699,2707 514.2+/-368.6 321,1057,825 107 89 95 1400 5 1 7 dbSNP_107 95 4887,3713 619.4+/-396.9 1400,2087,813 yes missense GAL3ST4 NM_024637.4 64 1721,3144,1638 AA,AG,GG 43.1744,38.5611,49.3618 possibly-damaging 467/487 99757612 6586,6420 2203 4300 6503 SO:0001583 missense AF316113 CCDS5688.1 7q22.1 2007-04-02 ENSG00000197093 ENSG00000197093 79690 Sulfotransferases, membrane-bound 24145 protein-coding gene gene with protein product 608235 NA 11333265 Standard NM_024637 NM_024637 NA Approved FLJ12116 uc003utu.3 Q96RP7 OTTHUMG00000154885 ENST00000360039.4:c.1400C>T chr7.hg19:g.99757612G>A ENSP00000353142:p.Ala467Val NA A4D2A8|B4DWL8|D6W5U5|Q8N3P7|Q8WZ17|Q96E33|Q9HA78 hg19 CCDS5688.1 0.02 20.092757 TTGxCAT COVERED 1080 0.4945054945054945 159 0.3231707317073171 150 0.4143646408839779 343 0.5996503496503497 428 0.5646437994722955 G 20.2 3.949298 0.73787 0.385611 0.568256 ENSG00000197093 ENST00000413800;ENST00000360039;ENST00000426974 T;T;T 0.17054 2.3;2.3;2.3 5.92 5.04 0.67666 . 0.353495 0.24211 U 0.040522 T 0.00012 0.0000 L 0.32530 0.975 0.26429 P 0.9759661 B;B 0.21452 0.056;0.008 B;B 0.23419 0.046;0.019 T 0.36138 -0.9760 9 0.30078 T 0.28 -5.0108 7.9872 0.30218 0.0802:0.0:0.7619:0.1579 rs3823646;rs17845361;rs17858212;rs58496926;rs3823646 405;467 B4DWL8;Q96RP7 .;G3ST4_HUMAN V 467;467;405 ENSP00000400451:A467V;ENSP00000353142:A467V;ENSP00000398304:A405V ENSP00000353142:A467V A - 2 0 GAL3ST4 99595548 0.717000 0.27966 1.000000 0.80357 0.977000 0.68977 1.499000 0.35671 1.515000 0.48885 0.561000 0.74099 GCC NOVEL GAL3ST4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000337495.2 3 26.619905 KEEP 0 1 30 99 3537 GG 1 1 0 - 16 60 552 0 0 31.644639 519 60 18984 750 ENST00000360039.4 0.029907 1 GAL3ST4 79690 __UNKNOWN__ __UNKNOWN__ 7 99758136 99758136 __UNKNOWN__ Silent SNP T T G rs3800951 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:99758136T>G ENST00000360039.4 - 4 1268 c.876A>C c.(874-876)gcA>gcC p.A292A GAL3ST4_ENST00000426974.2_Silent_p.A230A|GAL3ST4_ENST00000413800.1_Silent_p.A292A|GAL3ST4_ENST00000411994.1_Missense_Mutation_p.H191P|GAL3ST4_ENST00000423751.1_Missense_Mutation_p.H191P NM_024637.4 NP_078913.3 Q96RP7 G3ST4_HUMAN galactose-3-O-sulfotransferase 4 292 NA cell-cell signaling (GO:0007267)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790) extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020) 3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698) cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1) 26 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) AGTCCAGCCATGCCAGACCCC 0.527 NA G||| 2721 0.543331 0.4622 0.4366 5008 , , NA 20997 0.6438 NA 0.5606 False NA ,,, NA NA NA 2504 0.6074 NA NA NA NA 0 G 2219,2187 551,1117,535 97 89 92 876 0.7 1 7 dbSNP_107 92 4919,3681 1421,2077,802 no coding-synonymous GAL3ST4 NM_024637.4 1972,3194,1337 GG,GT,TT 42.8023,49.6369,45.1176 292/487 99758136 7138,5868 2203 4300 6503 SO:0001819 synonymous_variant AF316113 CCDS5688.1 7q22.1 2007-04-02 ENSG00000197093 ENSG00000197093 79690 Sulfotransferases, membrane-bound 24145 protein-coding gene gene with protein product 608235 NA 11333265 Standard NM_024637 NM_024637 NA Approved FLJ12116 uc003utu.3 Q96RP7 OTTHUMG00000154885 ENST00000360039.4:c.876A>C chr7.hg19:g.99758136T>G NA A4D2A8|B4DWL8|D6W5U5|Q8N3P7|Q8WZ17|Q96E33|Q9HA78 hg19 CCDS5688.1 0.02 18.905742 CCAxGCC COVERED 1132 0.5183150183150184 204 0.4146341463414634 155 0.4281767955801105 343 0.5996503496503497 430 0.5672823218997362 G 9.010 0.982263 0.18889 0.503631 0.571977 ENSG00000197093 ENST00000423751;ENST00000411994 . . . 4.82 0.712 0.18167 . . . . . T 0.00012 0.0000 . . . 0.09310 P 0.9999999823277 . . . . . . T 0.43877 -0.9364 4 0.87932 D 0 -9.2138 3.645 0.08181 0.269:0.0:0.4415:0.2895 rs3800951;rs17845360;rs17858211;rs56997718;rs3800951 . . . P 191 . ENSP00000414733:H191P H - 2 0 GAL3ST4 99596072 0.108000 0.22018 0.991000 0.47740 0.906000 0.53458 -0.016000 0.12613 -0.279000 0.09167 -0.285000 0.09966 CAT NOVEL GAL3ST4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000337495.2 2 34.494292 KEEP 0 3 98 149 4613 TT 1 1 0 - 14 60 510 0 0 30.396653 452 60 16633 752 ENST00000360039.4 0.030043 1 STAG3 10734 __UNKNOWN__ __UNKNOWN__ 7 99778019 99778019 __UNKNOWN__ Intron SNP G G C rs12666107 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:99778019G>C ENST00000426455.1 + 2 343 STAG3_ENST00000317296.5_Intron|STAG3_ENST00000394018.2_Intron NM_001282716.1 NP_001269645.1 Q9UJ98 STAG3_HUMAN stromal antigen 3 NA NA chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130) chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802) breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 66 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CCTGACCCCAGAGTTCTAGAA 0.557 NA G||| 1926 0.384585 0.3351 0.4928 5008 , , NA 18447 0.622 NA 0.2416 False NA ,,, NA NA NA 2504 0.2771 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ007798 CCDS34703.1, CCDS64730.1, CCDS75642.1 7q22 2008-02-01 ENSG00000066923 ENSG00000066923 10734 11356 protein-coding gene gene with protein product 608489 NA 10698974 Standard NM_012447 XM_005250116 NA Approved uc003utx.1 Q9UJ98 OTTHUMG00000155183 ENST00000426455.1:c.-64-97G>C chr7.hg19:g.99778019G>C NA A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3 hg19 CCDS34703.1 0.02 3.865524 CCAxAGT COVERED NOVEL STAG3-004 KNOWN alternative_5_UTR|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000338734.2 1 5.417746 KEEP 0 0 0 18 644 GG 0.999859 0.999859 0 + 5 60 176 0 0 10.656241 133 60 5006 159 ENST00000426455.1 0.036232 1 STAG3 10734 __UNKNOWN__ __UNKNOWN__ 7 99780282 99780282 __UNKNOWN__ Intron SNP C C G rs4729579 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:99780282C>G ENST00000426455.1 + 4 626 STAG3_ENST00000317296.5_Intron|STAG3_ENST00000394018.2_Intron NM_001282716.1 NP_001269645.1 Q9UJ98 STAG3_HUMAN stromal antigen 3 NA NA chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130) chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802) breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 66 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TGAAACCAAGCGTTAATGTCA 0.348 NA T||| 1974 0.394169 0.3359 0.5173 5008 , , NA 19105 0.622 NA 0.2684 False NA ,,, NA NA NA 2504 0.2802 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ007798 CCDS34703.1, CCDS64730.1, CCDS75642.1 7q22 2008-02-01 ENSG00000066923 ENSG00000066923 10734 11356 protein-coding gene gene with protein product 608489 NA 10698974 Standard NM_012447 XM_005250116 NA Approved uc003utx.1 Q9UJ98 OTTHUMG00000155183 ENST00000426455.1:c.220-64C>G chr7.hg19:g.99780282C>G NA A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3 hg19 CCDS34703.1 0.02 6.539287 AAGxGTT COVERED NOVEL STAG3-004 KNOWN alternative_5_UTR|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000338734.2 0 11.737827 KEEP 0 0 0 39 1354 CC 1 1 0 + 6 60 221 0 0 14.009045 145 60 5354 198 ENST00000426455.1 0.039735 1 STAG3 10734 __UNKNOWN__ __UNKNOWN__ 7 99783714 99783714 __UNKNOWN__ Intron SNP G G T rs6960458 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:99783714G>T ENST00000426455.1 + 5 743 STAG3_ENST00000317296.5_Intron|STAG3_ENST00000394018.2_Intron NM_001282716.1 NP_001269645.1 Q9UJ98 STAG3_HUMAN stromal antigen 3 NA NA chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130) chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802) breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 66 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) tgtgaaagatgttttaaatgt 0.338 NA G||| 1974 0.394169 0.3359 0.5173 5008 , , NA 20853 0.622 NA 0.2684 False NA ,,, NA NA NA 2504 0.2802 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ007798 CCDS34703.1, CCDS64730.1, CCDS75642.1 7q22 2008-02-01 ENSG00000066923 ENSG00000066923 10734 11356 protein-coding gene gene with protein product 608489 NA 10698974 Standard NM_012447 XM_005250116 NA Approved uc003utx.1 Q9UJ98 OTTHUMG00000155183 ENST00000426455.1:c.337-109G>T chr7.hg19:g.99783714G>T NA A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3 hg19 CCDS34703.1 0.02 7.282934 GATxTTT COVERED NOVEL STAG3-004 KNOWN alternative_5_UTR|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000338734.2 2 5.718678 KEEP 2 0 0 19 675 GG 0.999366 0.999366 0 + 6 60 233 0 0 14.74197 174 60 6616 209 ENST00000426455.1 0.033333 1 AGFG2 3268 __UNKNOWN__ __UNKNOWN__ 7 100160109 100160109 __UNKNOWN__ Intron SNP T T C rs11760595 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:100160109T>C ENST00000300176.4 + 7 1120 AGFG2_ENST00000474713.1_Intron|AGFG2_ENST00000262935.4_Intron NM_006076.4 NP_006067.3 O95081 AGFG2_HUMAN ArfGAP with FG repeats 2 NA NA regulation of ARF GTPase activity (GO:0032312) membrane (GO:0016020) ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270) NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 TCCCCTCCCCTCCTCTCCCTT 0.622 NA T||| 402 0.0802716 0.0136 0.0562 5008 , , NA 17033 0.1379 NA 0.0964 False NA ,,, NA NA NA 2504 0.1115 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF015042 CCDS5697.1 7q22.1 2008-09-22 2008-09-22 2008-09-22 ENSG00000106351 ENSG00000106351 3268 ADP-ribosylation factor GTPase activating proteins 5177 protein-coding gene gene with protein product 604019 HIV-1 Rev binding protein-like HRBL NA 9799793 Standard NM_006076 XM_005250306 NA Approved RABR uc003uvf.3 O95081 OTTHUMG00000156029 ENST00000300176.4:c.998+107T>C chr7.hg19:g.100160109T>C NA O75429|Q96AB9|Q96GL4 hg19 CCDS5697.1 0.02 6.496575 CCCxCCT COVERED NOVEL AGFG2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000342769.1 3 18.350961 KEEP 0 0 0 61 1832 TT 1 1 0 + 8 60 273 0 0 16.745821 182 60 6600 280 ENST00000300176.4 0.042105 1 AGFG2 3268 __UNKNOWN__ __UNKNOWN__ 7 100162867 100162867 __UNKNOWN__ 3'UTR SNP T T C rs563696310 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:100162867T>C ENST00000300176.4 + 0 1821 AGFG2_ENST00000474713.1_3'UTR|AGFG2_ENST00000262935.4_3'UTR NM_006076.4 NP_006067.3 O95081 AGFG2_HUMAN ArfGAP with FG repeats 2 NA NA regulation of ARF GTPase activity (GO:0032312) membrane (GO:0016020) ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270) NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 GGAGGAGTGATGGTTGAGGGG 0.627 NA T||| 3 0.000599042 0.0 0.0 5008 , , NA 17446 0.003 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF015042 CCDS5697.1 7q22.1 2008-09-22 2008-09-22 2008-09-22 ENSG00000106351 ENSG00000106351 3268 ADP-ribosylation factor GTPase activating proteins 5177 protein-coding gene gene with protein product 604019 HIV-1 Rev binding protein-like HRBL NA 9799793 Standard NM_006076 XM_005250306 NA Approved RABR uc003uvf.3 O95081 OTTHUMG00000156029 ENST00000300176.4:c.*253T>C chr7.hg19:g.100162867T>C NA O75429|Q96AB9|Q96GL4 hg19 CCDS5697.1 0.02 5.903581 TGAxGGT COVERED NOVEL AGFG2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000342769.1 2 11.129673 KEEP 0 0 0 37 1076 TT 1 1 0 + 8 60 253 0 0 14.987762 170 60 5911 252 ENST00000300176.4 0.044944 1 LRCH4 4034 __UNKNOWN__ __UNKNOWN__ 7 100175473 100175473 __UNKNOWN__ 5'UTR SNP T T C rs386716129|rs909152 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:100175473T>C ENST00000497245.1 - 0 928 LRCH4_ENST00000310300.6_Silent_p.G337G O75427 LRCH4_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 4 NA NA nervous system development (GO:0007399) PML body (GO:0016605) NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 23 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GTTCTCTGGGTCCCCGGGGCT 0.617 NA C||| 3779 0.754593 0.9728 0.5403 5008 , , NA 16884 0.7242 NA 0.6909 False NA ,,, NA NA NA 2504 0.7086 NA NA NA NA 0 C 4049,357 179.0+/-207.6 1856,337,10 40 42 42 1011 -1.7 0.5 7 dbSNP_86 42 5961,2639 421.5+/-353.7 2076,1809,415 no coding-synonymous LRCH4 NM_002319.3 3932,2146,425 CC,CT,TT 30.686,8.1026,23.0355 337/684 100175473 10010,2996 2203 4300 6503 SO:0001623 5_prime_UTR_variant AF053356 CCDS34706.1 7q22 2008-05-20 2004-05-27 2004-05-28 ENSG00000077454 ENSG00000077454 4034 6691 protein-coding gene gene with protein product LRN, LRRN1 NA 9799793 Standard NM_002319 XM_005250346 NA Approved uc003uvj.3 O75427 OTTHUMG00000159544 ENST00000497245.1:c.-346A>G chr7.hg19:g.100175473T>C NA A4D2D5|Q8WV85|Q96ID0 hg19 0.02 14.817427 GGGxCCC COVERED NOVEL LRCH4-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000356111.1 1 36.940956 KEEP 0 1 32 134 4163 TT 1 1 0 - 21 60 769 1 0 52.641309 322 60 11145 599 ENST00000497245.1 0.061224 1 GNB2 2783 __UNKNOWN__ __UNKNOWN__ 7 100271521 100271521 __UNKNOWN__ 5'UTR SNP T T C rs221789 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:100271521T>C ENST00000303210.4 + 0 368 GNB2_ENST00000419828.1_5'UTR|GNB2_ENST00000436220.1_5'UTR|GNB2_ENST00000427895.1_5'UTR|GNB2_ENST00000424361.1_5'UTR NM_005273.3 NP_005264.2 P62879 GBB2_HUMAN guanine nucleotide binding protein (G protein), beta polypeptide 2 NA NA cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268) cell body (GO:0044297)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982) calcium channel regulator activity (GO:0005246)|GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871) endometrium(1)|lung(3)|ovary(2)|prostate(1) 7 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) Ovarian(593;0.238) GCCAGCGACCTCCGCCGCAGA 0.731 NA C||| 4302 0.859026 0.8744 0.8948 5008 , , NA 5961 0.9216 NA 0.8231 False NA ,,, NA NA NA 2504 0.7853 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant M16514 CCDS5703.1 7q21.3-q22.1 2013-01-10 ENSG00000172354 ENSG00000172354 2783 WD repeat domain containing 4398 protein-coding gene gene with protein product G protein, beta-2 subunit, guanine nucleotide-binding protein G(I)/G(S)/G(T) beta subunit 2, signal-transducing guanine nucleotide-binding regulatory protein beta subunit, transducin beta chain 2 139390 NA 9799793 Standard NM_005273 NM_005273 NA Approved uc003uwb.3 P62879 OTTHUMG00000137419 ENST00000303210.4:c.-115T>C chr7.hg19:g.100271521T>C NA B3KPU1|P11016|P54312 hg19 CCDS5703.1 0.02 -0.114039 ACCxCCG UNCOVERED NOVEL GNB2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000268391.2 0 7.548905 KEEP 0 1 5 27 812 TT 0.999997 0.162466 0 + 2 60 83 0 0 6.830604 11 60 374 65 ENST00000303210.4 0.153846 0.162467 GIGYF1 64599 __UNKNOWN__ __UNKNOWN__ 7 100278282 100278282 __UNKNOWN__ 3'UTR SNP G G C rs221790 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:100278282G>C ENST00000275732.5 - 0 5377 NM_022574.4 NP_072096.2 O75420 PERQ1_HUMAN GRB10 interacting GYF protein 1 NA NA insulin-like growth factor receptor signaling pathway (GO:0048009) central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) CCCCTCTACTGCAACCCTAAG 0.622 NA G||| 3395 0.677915 0.6543 0.7133 5008 , , NA 14432 0.7927 NA 0.5905 False NA ,,, NA NA NA 2504 0.6564 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF053356 CCDS34708.1 7q22 2008-02-11 2008-02-11 2008-02-11 ENSG00000146830 ENSG00000146830 64599 9126 protein-coding gene gene with protein product GYF domain containing 1 612064 PERQ amino acid rich, with GYF domain 1 PERQ1 NA 9799793, 12771153 Standard NM_022574 NM_022574 NA Approved GYF1 uc003uwg.1 O75420 OTTHUMG00000157036 ENST00000275732.5:c.*1060C>G chr7.hg19:g.100278282G>C NA Q6Y7W7|Q8WZ38 hg19 CCDS34708.1 0.02 11.194037 ACTxCAA COVERED NOVEL GIGYF1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347205.2 3 34.613637 KEEP 0 0 0 115 4151 GG 1 1 0 - 14 60 521 0 0 35.209131 242 60 9028 447 ENST00000275732.5 0.054687 1 GIGYF1 64599 __UNKNOWN__ __UNKNOWN__ 7 100278657 100278657 __UNKNOWN__ 3'UTR SNP A A G rs221792 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:100278657A>G ENST00000275732.5 - 0 5002 NM_022574.4 NP_072096.2 O75420 PERQ1_HUMAN GRB10 interacting GYF protein 1 NA NA insulin-like growth factor receptor signaling pathway (GO:0048009) central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) AGCTGGGGCCACTCGTCCAAT 0.642 NA G||| 4315 0.861621 0.8797 0.902 5008 , , NA 14177 0.9226 NA 0.8231 False NA ,,, NA NA NA 2504 0.7853 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF053356 CCDS34708.1 7q22 2008-02-11 2008-02-11 2008-02-11 ENSG00000146830 ENSG00000146830 64599 9126 protein-coding gene gene with protein product GYF domain containing 1 612064 PERQ amino acid rich, with GYF domain 1 PERQ1 NA 9799793, 12771153 Standard NM_022574 NM_022574 NA Approved GYF1 uc003uwg.1 O75420 OTTHUMG00000157036 ENST00000275732.5:c.*685T>C chr7.hg19:g.100278657A>G NA Q6Y7W7|Q8WZ38 hg19 CCDS34708.1 0.02 19.124357 GCCxCTC COVERED NOVEL GIGYF1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347205.2 2 37.593181 KEEP 0 5 142 175 5286 AA 1 1 0 - 19 60 647 0 0 39.376164 444 60 15311 821 ENST00000275732.5 0.041037 1 GIGYF1 64599 __UNKNOWN__ __UNKNOWN__ 7 100281768 100281768 __UNKNOWN__ Silent SNP T T C rs221794 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:100281768T>C ENST00000275732.5 - 15 2952 c.1743A>G c.(1741-1743)ccA>ccG p.P581P NM_022574.4 NP_072096.2 O75420 PERQ1_HUMAN GRB10 interacting GYF protein 1 581 Gln-rich. NA insulin-like growth factor receptor signaling pathway (GO:0048009) central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) GCGCGCACTGTGGGAGCTGGC 0.692 NA C||| 4315 0.861621 0.8812 0.902 5008 , , NA 11029 0.9206 NA 0.8231 False NA ,,, NA NA NA 2504 0.7853 NA NA NA NA 0 C 3847,553 1684,479,37 21 26 25 1743 -2.8 0.2 7 dbSNP_79 25 7278,1320 3093,1092,114 no coding-synonymous GIGYF1 NM_022574.4 4777,1571,151 CC,CT,TT 15.3524,12.5682,14.4099 581/1036 100281768 11125,1873 2200 4299 6499 SO:0001819 synonymous_variant AF053356 CCDS34708.1 7q22 2008-02-11 2008-02-11 2008-02-11 ENSG00000146830 ENSG00000146830 64599 9126 protein-coding gene gene with protein product GYF domain containing 1 612064 PERQ amino acid rich, with GYF domain 1 PERQ1 NA 9799793, 12771153 Standard NM_022574 NM_022574 NA Approved GYF1 uc003uwg.1 O75420 OTTHUMG00000157036 ENST00000275732.5:c.1743A>G chr7.hg19:g.100281768T>C NA Q6Y7W7|Q8WZ38 hg19 CCDS34708.1 0.02 1.810559 CTGxGGG COVERED NOVEL GIGYF1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347205.2 2 16.462869 KEEP 0 1 38 68 2038 TT 1 0.999962 0 - 10 60 329 0 0 23.606838 89 60 3081 214 ENST00000275732.5 0.10101 0.999962 GIGYF1 64599 __UNKNOWN__ __UNKNOWN__ 7 100284913 100284913 __UNKNOWN__ Intron SNP C C G rs221796 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:100284913C>G ENST00000275732.5 - 5 1692 GIGYF1_ENST00000471340.2_Intron NM_022574.4 NP_072096.2 O75420 PERQ1_HUMAN GRB10 interacting GYF protein 1 NA NA insulin-like growth factor receptor signaling pathway (GO:0048009) central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) GCCCCCTCCCCGCCCCACCTG 0.652 NA G||| 4557 0.909944 0.9826 0.9409 5008 , , NA 12530 0.9167 NA 0.8897 False NA ,,, NA NA NA 2504 0.8037 NA NA NA NA 0 G 4250,156 2051,148,4 29 34 32 -0.6 0 7 dbSNP_79 32 7732,862 3491,750,56 no intron GIGYF1 NM_022574.4 5542,898,60 GG,GC,CC 10.0303,3.5406,7.8308 100284913 11982,1018 2203 4297 6500 SO:0001627 intron_variant AF053356 CCDS34708.1 7q22 2008-02-11 2008-02-11 2008-02-11 ENSG00000146830 ENSG00000146830 64599 9126 protein-coding gene gene with protein product GYF domain containing 1 612064 PERQ amino acid rich, with GYF domain 1 PERQ1 NA 9799793, 12771153 Standard NM_022574 NM_022574 NA Approved GYF1 uc003uwg.1 O75420 OTTHUMG00000157036 ENST00000275732.5:c.482+7G>C chr7.hg19:g.100284913C>G NA Q6Y7W7|Q8WZ38 hg19 CCDS34708.1 0.02 7.124464 CCCxGCC COVERED NOVEL GIGYF1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347205.2 2 26.720874 KEEP 0 1 38 102 3469 CC 1 1 0 - 14 60 445 0 0 27.94949 229 60 8173 394 ENST00000275732.5 0.057613 1 GIGYF1 64599 __UNKNOWN__ __UNKNOWN__ 7 100285974 100285974 __UNKNOWN__ 5'UTR SNP A A C rs221797 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:100285974A>C ENST00000275732.5 - 0 1097 NM_022574.4 NP_072096.2 O75420 PERQ1_HUMAN GRB10 interacting GYF protein 1 NA NA insulin-like growth factor receptor signaling pathway (GO:0048009) central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) ACGAAGGAGAACTTTAAAGCG 0.602 NA C||| 4609 0.920327 0.9856 0.9481 5008 , , NA 12142 0.9236 NA 0.8887 False NA ,,, NA NA NA 2504 0.8415 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF053356 CCDS34708.1 7q22 2008-02-11 2008-02-11 2008-02-11 ENSG00000146830 ENSG00000146830 64599 9126 protein-coding gene gene with protein product GYF domain containing 1 612064 PERQ amino acid rich, with GYF domain 1 PERQ1 NA 9799793, 12771153 Standard NM_022574 NM_022574 NA Approved GYF1 uc003uwg.1 O75420 OTTHUMG00000157036 ENST00000275732.5:c.-113T>G chr7.hg19:g.100285974A>C NA Q6Y7W7|Q8WZ38 hg19 CCDS34708.1 0.02 7.044123 AGAxCTT COVERED NOVEL GIGYF1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347205.2 0 15.546098 KEEP 0 3 95 85 2637 AA 1 1 0 - 12 60 450 0 0 31.129333 184 60 6446 363 ENST00000275732.5 0.061224 1 EPO 2056 __UNKNOWN__ __UNKNOWN__ 7 100321138 100321138 __UNKNOWN__ 3'UTR SNP T T G rs564449 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:100321138T>G ENST00000252723.2 + 0 1145 NM_000799.2 NP_000790.2 P01588 EPO_HUMAN erythropoietin NA NA aging (GO:0007568)|apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular hyperosmotic response (GO:0071474)|cellular response to hypoxia (GO:0071456)|embryo implantation (GO:0007566)|erythrocyte maturation (GO:0043249)|hemoglobin biosynthetic process (GO:0042541)|negative regulation of calcium ion transport into cytosol (GO:0010523)|negative regulation of cation channel activity (GO:2001258)|negative regulation of erythrocyte apoptotic process (GO:1902251)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to axon injury (GO:0048678)|response to electrical stimulus (GO:0051602)|response to estrogen (GO:0043627)|response to hyperoxia (GO:0055093)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to salt stress (GO:0009651)|response to testosterone (GO:0033574)|response to vitamin A (GO:0033189)|signal transduction (GO:0007165) cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615) protein kinase activator activity (GO:0030295) central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1) 12 Lung NSC(181;0.041)|all_lung(186;0.0581) ATGACCTGGATAACTTAGGTG 0.567 NA G||| 4507 0.89996 0.913 0.9352 5008 , , NA 20520 0.9236 NA 0.8907 False NA ,,, NA NA NA 2504 0.8425 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X02157 CCDS5705.1 7q21 2014-01-30 ENSG00000130427 ENSG00000130427 2056 Endogenous ligands 3415 protein-coding gene gene with protein product 133170 NA 9799793, 3838366 Standard NM_000799 NM_000799 NA Approved EP uc003uwi.3 P01588 OTTHUMG00000152121 ENST00000252723.2:c.*382T>G chr7.hg19:g.100321138T>G NA Q2M2L6|Q549U2|Q9UDZ0|Q9UEZ5|Q9UHA0 hg19 CCDS5705.1 0.02 5.025642 GGAxAAC COVERED NOVEL EPO-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000325323.1 0 5.716134 KEEP 0 0 0 19 568 TT 0.99986 0.999859 0 + 15 60 535 0 0 40.423825 116 60 4100 166 ENST00000252723.2 0.114504 1 ZAN 7455 __UNKNOWN__ __UNKNOWN__ 7 100348384 100348384 __UNKNOWN__ RNA SNP T T C rs2293768 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:100348384T>C ENST00000348028.3 + 0 1551 ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) NA NA binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) TTGGGGAGGGTACTATGCTCG 0.627 NA T||| 961 0.191893 0.0303 0.3156 5008 , , NA 17433 0.5139 NA 0.0457 False NA ,,, NA NA NA 2504 0.1411 NA NA NA NA 0 T , 123,3817 1,121,1848 39 40 40 1386,1386 -5.3 0 7 dbSNP_100 40 319,7987 4,311,3838 no coding-synonymous,coding-synonymous ZAN NM_003386.1,NM_173059.1 , 5,432,5686 CC,CT,TT 3.8406,3.1218,3.6093 , 462/2813,462/2722 100348384 442,11804 1970 4153 6123 U83191 7q22.1 2013-10-10 2013-10-10 ENSG00000146839 ENSG00000146839 7455 12857 protein-coding gene gene with protein product 602372 zonadhesin NA 9799793, 17033959 Standard NM_003386 NM_003386 NA Approved uc003uwk.3 Q9Y493 OTTHUMG00000157037 ENST00000348028.3: chr7.hg19:g.100348384T>C NA A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88 hg19 0.02 12.166451 GGGxACT COVERED NOVEL ZAN-006 KNOWN basic polymorphic_pseudogene NA polymorphic_pseudogene OTTHUMT00000347214.1 0 9.021444 KEEP 0 0 0 30 850 TT 0.999997 0.999997 0 + 12 60 454 0 0 30.041422 247 60 8220 363 ENST00000348028.3 0.046332 1 ZAN 7455 __UNKNOWN__ __UNKNOWN__ 7 100371358 100371358 __UNKNOWN__ RNA SNP G G A rs2293766 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:100371358G>A ENST00000348028.3 + 0 5814 ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) NA NA binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) GGGAGCGCTGGTACACAGAGA 0.592 NA G||| 893 0.178315 0.0204 0.2781 5008 , , NA 19003 0.5079 NA 0.0099 False NA ,,, NA NA NA 2504 0.1544 NA NA NA NA 0 G stop/TRP,stop/TRP 99,4091 0,99,1996 42 48 46 5649,5649 4.4 1 7 dbSNP_100 46 60,8378 1,58,4160 yes stop-gained,stop-gained ZAN NM_003386.1,NM_173059.1 , 1,157,6156 AA,AG,GG 0.7111,2.3628,1.2591 , 1883/2813,1883/2722 100371358 159,12469 2095 4219 6314 U83191 7q22.1 2013-10-10 2013-10-10 ENSG00000146839 ENSG00000146839 7455 12857 protein-coding gene gene with protein product 602372 zonadhesin NA 9799793, 17033959 Standard NM_003386 NM_003386 NA Approved uc003uwk.3 Q9Y493 OTTHUMG00000157037 ENST00000348028.3: chr7.hg19:g.100371358G>A NA A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88 hg19 0.02 15.243564 CTGxTAC COVERED 373 0.1707875457875458 7 0.014227642276422764 71 0.19613259668508287 286 0.5 9 0.011873350923482849 G 46 12.322224 0.99657 0.023628 0.007111 ENSG00000146839 ENST00000546292;ENST00000538115;ENST00000542585 . . . 4.44 4.44 0.53790 . 0.000000 0.38436 N 0.001694 . . . . . . 0.09310 P 1.0 . . . . . . . . . . 0.02654 T 1 . 13.2587 0.60093 0.0:0.0:1.0:0.0 rs2293766;rs56539038;rs2293766 . . . X 1883 . ENSP00000423579:W1883X W + 3 0 ZAN 100209294 1.000000 0.71417 1.000000 0.80357 0.686000 0.39977 4.190000 0.58365 2.404000 0.81709 0.297000 0.19635 TGG NOVEL ZAN-006 KNOWN basic polymorphic_pseudogene NA polymorphic_pseudogene OTTHUMT00000347214.1 0 12.340297 KEEP 0 0 0 41 1472 GG 1 1 0 + 29 60 1033 0 0 72.895326 344 60 12610 518 ENST00000348028.3 0.077748 1 ZAN 7455 __UNKNOWN__ __UNKNOWN__ 7 100373077 100373077 __UNKNOWN__ RNA SNP C C G rs542137 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:100373077C>G ENST00000348028.3 + 0 6071 ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) NA NA binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CCTTGCCCTTCTTCAAGATCA 0.542 NA C||| 2230 0.445288 0.2133 0.5418 5008 , , NA 20985 0.7867 NA 0.3419 False NA ,,, NA NA NA 2504 0.4448 NA NA NA NA 0 C LEU/PHE,LEU/PHE 910,3160 103,704,1228 57 56 56 5906,5906 4.3 1 7 dbSNP_83 56 3032,5314 553,1926,1694 yes missense,missense ZAN NM_003386.1,NM_173059.1 22,22 656,2630,2922 GG,GC,CC 36.3288,22.3587,31.7494 possibly-damaging,possibly-damaging 1969/2813,1969/2722 100373077 3942,8474 2035 4173 6208 U83191 7q22.1 2013-10-10 2013-10-10 ENSG00000146839 ENSG00000146839 7455 12857 protein-coding gene gene with protein product 602372 zonadhesin NA 9799793, 17033959 Standard NM_003386 NM_003386 NA Approved uc003uwk.3 Q9Y493 OTTHUMG00000157037 ENST00000348028.3: chr7.hg19:g.100373077C>G NA A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88 hg19 0.02 15.377876 CTTxTTC COVERED 1028 0.4706959706959707 102 0.2073170731707317 190 0.5248618784530387 467 0.8164335664335665 269 0.3548812664907652 C 12.47 1.947026 0.34377 0.223587 0.363288 ENSG00000146839 ENST00000546292;ENST00000538115;ENST00000542585;ENST00000546213 T;T;T;T 0.22539 2.5;2.49;2.47;1.95 4.26 4.26 0.50523 von Willebrand factor, type D domain (3); 0.160399 0.29956 N 0.010766 T 0.00012 0.0000 . . . 0.41728 P 0.010453999999999963 P;P;P 0.52061 0.95;0.872;0.895 P;P;P 0.50049 0.495;0.495;0.629 T 0.01390 -1.1367 8 0.30854 T 0.27 . 12.8735 0.57978 0.0:1.0:0.0:0.0 rs542137;rs17280685;rs542137 479;1968;1969 F5GX59;F5H0T8;Q9Y493 .;.;ZAN_HUMAN L 1968;1968;1968;479 ENSP00000445943:F1968L;ENSP00000445091:F1968L;ENSP00000444427:F1968L;ENSP00000441117:F479L ENSP00000445091:F1968L F + 3 2 ZAN 100211013 0.985000 0.35326 0.997000 0.53966 0.228000 0.25075 1.241000 0.32743 2.303000 0.77524 0.462000 0.41574 TTC NOVEL ZAN-006 KNOWN basic polymorphic_pseudogene NA polymorphic_pseudogene OTTHUMT00000347214.1 2 7.560916 KEEP 0 1 37 38 1366 CC 1 1 0 + 28 60 1084 0 0 80.810792 285 60 10882 436 ENST00000348028.3 0.089457 1 ZAN 7455 __UNKNOWN__ __UNKNOWN__ 7 100373367 100373367 __UNKNOWN__ RNA SNP G G C rs539445 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:100373367G>C ENST00000348028.3 + 0 6268 ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) NA NA binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) AGCATCTACAGCATTGTTAAC 0.493 NA C||| 2229 0.445088 0.2126 0.5418 5008 , , NA 21207 0.7867 NA 0.3419 False NA ,,, NA NA NA 2504 0.4448 NA NA NA NA 0 C THR/SER,THR/SER 943,3247 110,723,1262 105 104 104 6103,6103 0.8 0 7 dbSNP_83 104 3053,5409 554,1945,1732 yes missense,missense ZAN NM_173059.1,NM_003386.1 58,58 664,2668,2994 CC,CG,GG 36.0789,22.506,31.5839 benign,benign 2035/2722,2035/2813 100373367 3996,8656 2095 4231 6326 U83191 7q22.1 2013-10-10 2013-10-10 ENSG00000146839 ENSG00000146839 7455 12857 protein-coding gene gene with protein product 602372 zonadhesin NA 9799793, 17033959 Standard NM_003386 NM_003386 NA Approved uc003uwk.3 Q9Y493 OTTHUMG00000157037 ENST00000348028.3: chr7.hg19:g.100373367G>C NA A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88 hg19 0.02 13.30635 ACAxCAT COVERED 1028 0.4706959706959707 102 0.2073170731707317 190 0.5248618784530387 467 0.8164335664335665 269 0.3548812664907652 C 2.652 -0.281823 0.05642 0.22506 0.360789 ENSG00000146839 ENST00000546292;ENST00000538115;ENST00000542585;ENST00000546213 T;T;T;T 0.59772 0.24;0.24;0.24;0.24 4.61 0.773 0.18516 von Willebrand factor, type D domain (3); 0.357809 0.21006 N 0.081772 T 0.00012 0.0000 . . . 0.80722 P 0.0 B;B;B 0.02656 0.0;0.0;0.0 B;B;B 0.01281 0.0;0.0;0.0 T 0.37549 -0.9701 8 0.07644 T 0.81 . 4.0908 0.09968 0.0:0.4509:0.1721:0.3771 rs539445;rs17449780;rs58421906;rs539445 545;2034;2035 F5GX59;F5H0T8;Q9Y493 .;.;ZAN_HUMAN T 2034;2034;2034;545 ENSP00000445943:S2034T;ENSP00000445091:S2034T;ENSP00000444427:S2034T;ENSP00000441117:S545T ENSP00000445091:S2034T S + 2 0 ZAN 100211303 0.000000 0.05858 0.000000 0.03702 0.007000 0.05969 -0.246000 0.08878 0.016000 0.14998 -0.132000 0.14878 AGC NOVEL ZAN-006 KNOWN basic polymorphic_pseudogene NA polymorphic_pseudogene OTTHUMT00000347214.1 5 7.160726 KEEP 0 1 38 37 1360 GG 1 1 0 + 17 60 628 0 0 41.767971 316 60 11950 438 ENST00000348028.3 0.051051 1 ZAN 7455 __UNKNOWN__ __UNKNOWN__ 7 100377010 100377010 __UNKNOWN__ RNA SNP A A G rs540384497 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:100377010A>G ENST00000348028.3 + 0 6481 ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) NA NA binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) aagaaaaaaaaaTTTTGTGTC 0.512 NA A||| 2 0.000399361 0.0 0.0 5008 , , NA 16206 0.002 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA U83191 7q22.1 2013-10-10 2013-10-10 ENSG00000146839 ENSG00000146839 7455 12857 protein-coding gene gene with protein product 602372 zonadhesin NA 9799793, 17033959 Standard NM_003386 NM_003386 NA Approved uc003uwk.3 Q9Y493 OTTHUMG00000157037 ENST00000348028.3: chr7.hg19:g.100377010A>G NA A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88 hg19 0.02 6.578755 AAAxATT COVERED NOVEL ZAN-006 KNOWN basic polymorphic_pseudogene NA polymorphic_pseudogene OTTHUMT00000347214.1 4 11.733619 KEEP 0 0 0 39 1198 AA 1 1 0 + 6 60 231 0 0 14.371283 186 60 6663 268 ENST00000348028.3 0.03125 1 EPHB4 2050 __UNKNOWN__ __UNKNOWN__ 7 100416139 100416139 __UNKNOWN__ Intron SNP T T C rs3857809 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:100416139T>C ENST00000358173.3 - 7 1891 EPHB4_ENST00000477446.1_Intron|EPHB4_ENST00000360620.3_Intron NM_004444.4 NP_004435.3 P54760 EPHB4_HUMAN EPH receptor B4 NA NA angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777) extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887) ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714) breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3) 47 Lung NSC(181;0.041)|all_lung(186;0.0581) GGGATGGCCTTACCTTCTCAT 0.632 NA C||| 1214 0.242412 0.1853 0.3012 5008 , , NA 15462 0.5804 NA 0.006 False NA ,,, NA NA NA 2504 0.1728 NA NA NA GBM(200;2113 3072 25865 52728) NA 0 C 713,3693 759.9+/-412.9 45,623,1535 65 58 60 1.5 1 7 dbSNP_108 60 48,8552 817.1+/-406.9 0,48,4252 no intron EPHB4 NM_004444.4 45,671,5787 CC,CT,TT 0.5581,16.1825,5.8511 100416139 761,12245 2203 4300 6503 SO:0001627 intron_variant AY056047 CCDS5706.1 7q22 2013-02-11 2004-10-28 ENSG00000196411 ENSG00000196411 2050 EPH receptors, Sterile alpha motif (SAM) domain containing, Fibronectin type III domain containing 3395 protein-coding gene gene with protein product 600011 EphB4 HTK NA 8188704 Standard NM_004444 NM_004444 NA Approved Tyro11 uc003uwn.1 P54760 OTTHUMG00000157040 ENST00000358173.3:c.1422+2A>G chr7.hg19:g.100416139T>C NA B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0 hg19 CCDS5706.1 0.02 9.234306 CCTxACC COVERED NOVEL EPHB4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347222.1 2 24.946174 KEEP 0 0 0 83 2365 TT 1 1 0 - 15 60 534 0 0 36.491589 215 60 7479 374 ENST00000358173.3 0.065217 1 EPHB4 2050 __UNKNOWN__ __UNKNOWN__ 7 100424776 100424776 __UNKNOWN__ 5'UTR SNP C C G rs2571606 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:100424776C>G ENST00000358173.3 - 0 345 NM_004444.4 NP_004435.3 P54760 EPHB4_HUMAN EPH receptor B4 NA NA angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777) extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887) ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714) breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3) 47 Lung NSC(181;0.041)|all_lung(186;0.0581) GGGCCCTCAGCGCGGGCCCAT 0.781 NA C||| 1468 0.293131 0.0794 0.4049 5008 , , NA 7259 0.5754 NA 0.2366 False NA ,,, NA NA NA 2504 0.2699 NA NA NA GBM(200;2113 3072 25865 52728) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AY056047 CCDS5706.1 7q22 2013-02-11 2004-10-28 ENSG00000196411 ENSG00000196411 2050 EPH receptors, Sterile alpha motif (SAM) domain containing, Fibronectin type III domain containing 3395 protein-coding gene gene with protein product 600011 EphB4 HTK NA 8188704 Standard NM_004444 NM_004444 NA Approved Tyro11 uc003uwn.1 P54760 OTTHUMG00000157040 ENST00000358173.3:c.-124G>C chr7.hg19:g.100424776C>G NA B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0 hg19 CCDS5706.1 0.02 2.396213 CAGxGCG COVERED NOVEL EPHB4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347222.1 0 8.424231 KEEP 0 0 0 28 854 CC 0.999997 0.979523 0 - 4 60 150 0 0 10.651945 52 60 1715 92 ENST00000358173.3 0.071429 0.979526 SLC12A9 56996 __UNKNOWN__ __UNKNOWN__ 7 100451732 100451732 __UNKNOWN__ Intron SNP C C T rs12535629 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:100451732C>T ENST00000354161.3 + 2 83 SLC12A9_ENST00000275729.3_Intron|SLC12A9_ENST00000415287.1_Intron|SLC12A9_ENST00000540482.1_Intron|SLC12A9_ENST00000428758.1_Intron NM_020246.3 NP_064631.2 Q9BXP2 S12A9_HUMAN solute carrier family 12, member 9 NA NA chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) cation:chloride symporter activity (GO:0015377) breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 41 Lung NSC(181;0.041)|all_lung(186;0.0581) TGGGGGTGGGCGAGCTCTGTG 0.512 NA C||| 1357 0.270966 0.0575 0.4568 5008 , , NA 18305 0.4464 NA 0.2614 False NA ,,, NA NA NA 2504 0.2566 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF284422 CCDS5707.1, CCDS59068.1, CCDS59069.1 7q22 2013-07-18 2013-07-18 ENSG00000146828 ENSG00000146828 56996 Solute carriers 17435 protein-coding gene gene with protein product cation-chloride cotransporter-interacting protein NA 10871601, 11239002 Standard NM_020246 NM_020246 NA Approved CIP1 uc003uwp.4 Q9BXP2 OTTHUMG00000156045 ENST00000354161.3:c.-42-46C>T chr7.hg19:g.100451732C>T NA B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5 hg19 CCDS5707.1 0.02 8.161221 GGGxGAG COVERED NOVEL SLC12A9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000342837.1 0 12.312067 KEEP 0 3 85 71 2411 CC 1 1 0 + 13 60 422 0 0 26.281433 237 60 8553 411 ENST00000354161.3 0.052 1 MUC3A 4584 __UNKNOWN__ __UNKNOWN__ 7 100608573 100608573 __UNKNOWN__ Intron SNP G G C rs10251415 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:100608573G>C ENST00000319509.7 + 7 2107 RP11-395B7.2_ENST00000420080.1_RNA Q02505 MUC3A_HUMAN mucin 3A, cell surface associated NA NA cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021) extracellular matrix constituent, lubricant activity (GO:0030197)|extracellular matrix structural constituent (GO:0005201) breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 AGGGTGCTGGGGGTGGCCTCC 0.617 NA G||| 2006 0.400559 0.2769 0.5692 5008 , , NA 15156 0.5536 NA 0.3449 False NA ,,, NA NA NA 2504 0.3476 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF113616 7q22.1 2012-04-20 2006-03-14 ENSG00000169894 ENSG00000169894 4584 Mucins 7513 protein-coding gene gene with protein product 158371 mucin 3A, intestinal MUC3 NA 2393399, 10973822 Standard XM_001725354 XM_006710192 NA Approved uc003uxl.1 Q02505 OTTHUMG00000157038 ENST00000319509.7:c.2108-156G>C chr7.hg19:g.100608573G>C NA O14650|O14651|O43418|O43421|Q02506|Q6W763|Q9H3Q7|Q9UKW9|Q9UN93|Q9UN94|Q9UN95 hg19 0.02 4.677858 TGGxGGT COVERED NOVEL MUC3A-001 KNOWN mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000347215.1 4 2.70654 KEEP 0 0 0 9 271 GG 0.99254 0.99254 0 + 42 60 1457 0 0 129.676907 91 60 3122 167 ENST00000319509.7 0.315789 1 MUC12 10071 __UNKNOWN__ __UNKNOWN__ 7 100643367 100643367 __UNKNOWN__ Silent SNP C C T rs58159744 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:100643367C>T ENST00000379442.3 + 5 9952 c.9952C>T c.(9952-9954)Ctg>Ttg p.L3318L MUC12_ENST00000536621.1_Silent_p.L3175L Q9UKN1 MUC12_HUMAN mucin 12, cell surface associated 3318 28 X 19 AA approximate tandem repeats of E-E-S-X-X-X-H-X-X-P-X-X-T-X-T-X-X-X-P.|Ser-rich. NA cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|regulation of cell growth (GO:0001558) Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887) breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13) 25 AGACACAACACTGTCCCCTGG 0.557 NA NA NA NA NA NA NA NA NA NA NA 0 118 194 171 NA NA 7 NA 100643367 692 1590 2282 SO:0001819 synonymous_variant AF147790, AF147791 CCDS55139.1 7q22 2007-01-17 2006-03-14 ENSG00000205277 ENSG00000205277 10071 Mucins 7510 protein-coding gene gene with protein product 604609 mucin 11 MUC11 NA 10463611 Standard XM_379904 NM_001164462 NA Approved uc003uxo.3 Q9UKN1 OTTHUMG00000157042 ENST00000379442.3:c.9952C>T chr7.hg19:g.100643367C>T NA A6ND38|F5GWV9|Q9UKN0 hg19 0.02 16.864737 ACAxTGT COVERED NOVEL MUC12-001 NOVEL basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000347234.1 6 10.532974 KEEP 27 0 0 35 1240 CC 0.999997 0.999997 0 + 25 50 892 0 0 60.121046 390 50 14400 515 ENST00000379442.3 0.060241 1 MUC12 10071 __UNKNOWN__ __UNKNOWN__ 7 100643876 100643876 __UNKNOWN__ Silent SNP C C T rs55930823 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:100643876C>T ENST00000379442.3 + 5 10461 c.10461C>T c.(10459-10461)agC>agT p.S3487S MUC12_ENST00000536621.1_Silent_p.S3344S Q9UKN1 MUC12_HUMAN mucin 12, cell surface associated 3487 28 X 19 AA approximate tandem repeats of E-E-S-X-X-X-H-X-X-P-X-X-T-X-T-X-X-X-P.|Ser-rich. NA cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|regulation of cell growth (GO:0001558) Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887) breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13) 25 TCCCTGAAAGCGACACAACTT 0.537 NA NA NA NA NA NA NA NA NA NA NA 0 3 4 4 NA NA 7 NA 100643876 594 1436 2030 SO:0001819 synonymous_variant AF147790, AF147791 CCDS55139.1 7q22 2007-01-17 2006-03-14 ENSG00000205277 ENSG00000205277 10071 Mucins 7510 protein-coding gene gene with protein product 604609 mucin 11 MUC11 NA 10463611 Standard XM_379904 NM_001164462 NA Approved uc003uxo.3 Q9UKN1 OTTHUMG00000157042 ENST00000379442.3:c.10461C>T chr7.hg19:g.100643876C>T NA A6ND38|F5GWV9|Q9UKN0 hg19 0.02 8.136183 AAGxGAC COVERED NOVEL MUC12-001 NOVEL basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000347234.1 10 7.386369 KEEP 150 2 61 46 1558 CC 0.999859 0.999859 0 + 11 40 371 0 0 23.355445 211 45 6993 452 ENST00000379442.3 0.04955 1 MUC17 140453 __UNKNOWN__ __UNKNOWN__ 7 100682535 100682535 __UNKNOWN__ Missense_Mutation SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:100682535C>T ENST00000306151.4 + 3 7902 c.7838C>T c.(7837-7839)tCa>tTa p.S2613L NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2613 59 X approximate tandem repeats.|Ser-rich. NA cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021) extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GAAACCAGTTCATCTCCTACA 0.473 NA NA NA NA NA NA NA NA NA NA NA 0 247 251 249 NA NA 7 NA 100682535 2203 4300 6503 SO:0001583 missense AJ606307 CCDS34711.1 7q22 2007-01-17 2006-03-14 ENSG00000169876 ENSG00000169876 140453 Mucins 16800 protein-coding gene gene with protein product 608424 NA 11855812 Standard NM_001040105 NM_001040105 NA Approved uc003uxp.1 Q685J3 OTTHUMG00000157030 ENST00000306151.4:c.7838C>T chr7.hg19:g.100682535C>T ENSP00000302716:p.Ser2613Leu NA O14761|Q685J2|Q8TDH7 hg19 CCDS34711.1 0.02 23.446929 GTTxATC COVERED . . . . . . . . . . C 5.938 0.357179 0.11239 . . ENSG00000169876 ENST00000306151 T 0.03094 4.05 0.673 0.673 0.17941 . . . . . T 0.04003 0.0112 L 0.29908 0.895 0.09310 N 1 P 0.48350 0.909 P 0.48704 0.587 T 0.44159 -0.9346 9 0.31617 T 0.26 . 3.8562 0.08976 0.4208:0.5791:0.0:0.0 . 2613 Q685J3 MUC17_HUMAN L 2613 ENSP00000302716:S2613L ENSP00000302716:S2613L S + 2 0 MUC17 100469255 0.000000 0.05858 0.001000 0.08648 0.001000 0.01503 -0.882000 0.04174 0.667000 0.31107 0.134000 0.15878 TCA NOVEL MUC17-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347161.1 3 13.835314 KEEP 0 0 0 46 1594 CC 1 1 0 + 18 60 663 1 0 40.35622 541 60 20449 705 ENST00000306151.4 0.0322 1 PLOD3 8985 __UNKNOWN__ __UNKNOWN__ 7 100858293 100858293 __UNKNOWN__ Intron SNP C C T rs77576173 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:100858293C>T ENST00000223127.3 - 6 1078 NM_001084.4 NP_001075.1 O60568 PLOD3_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 NA NA basement membrane assembly (GO:0070831)|cellular protein modification process (GO:0006464)|cellular response to hormone stimulus (GO:0032870)|collagen fibril organization (GO:0030199)|endothelial cell morphogenesis (GO:0001886)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|lung morphogenesis (GO:0060425)|neural tube development (GO:0021915)|protein localization (GO:0008104)|vasodilation (GO:0042311) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062) iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen galactosyltransferase activity (GO:0050211)|procollagen glucosyltransferase activity (GO:0033823)|procollagen-lysine 5-dioxygenase activity (GO:0008475) NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 31 Lung NSC(181;0.168)|all_lung(186;0.215) Succinic acid(DB00139)|Vitamin C(DB00126) CCCAGCTCCTCCAGAAGCCTC 0.572 NA C||| 542 0.108227 0.0862 0.0937 5008 , , NA 15736 0.0913 NA 0.0964 False NA ,,, NA NA NA 2504 0.1779 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF046889 CCDS5715.1 7q22.1 2011-08-24 ENSG00000106397 ENSG00000106397 8985 1.14.11.4 9083 protein-coding gene gene with protein product lysyl hydroxlase 3 603066 NA 9724729, 9582318 Standard NM_001084 NA Approved LH3 uc003uyd.3 O60568 OTTHUMG00000157111 ENST00000223127.3:c.679+76G>A chr7.hg19:g.100858293C>T NA B2R6W6|Q540C3 hg19 CCDS5715.1 0.02 1.944333 CCTxCAG COVERED NOVEL PLOD3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347470.1 0 3.309933 KEEP 0 0 0 11 358 CC 0.993072 0.984099 0 - 5 60 162 0 0 11.050582 57 60 2145 73 ENST00000223127.3 0.080645 0.990964 ZNHIT1 10467 __UNKNOWN__ __UNKNOWN__ 7 100861213 100861213 __UNKNOWN__ 5'UTR SNP T T C rs17319250 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:100861213T>C ENST00000305105.2 + 0 265 NM_006349.2 NP_006340.1 O43257 ZNHI1_HUMAN zinc finger, HIT-type containing 1 NA NA negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of histone deacetylation (GO:0031063)|regulation of T cell proliferation (GO:0042129) nucleus (GO:0005634) chromatin binding (GO:0003682)|metal ion binding (GO:0046872) breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2) 11 Lung NSC(181;0.168)|all_lung(186;0.215) TAAGATTTCTTGTAAGAACAC 0.488 NA C||| 1202 0.240016 0.233 0.2161 5008 , , NA 16920 0.1746 NA 0.2505 False NA ,,, NA NA NA 2504 0.3231 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF093571 CCDS5716.1 7q22.1 2010-09-15 2010-09-15 2003-08-08 ENSG00000106400 ENSG00000106400 10467 Zinc fingers, HIT-type 21688 protein-coding gene gene with protein product putative cyclin G1 interacting protein zinc finger protein, subfamily 4A (HIT domain containing), member 1, zinc finger, HIT domain containing 1 ZNFN4A1 NA Standard NM_006349 NM_006349 NA Approved CG1I, H_DJ0747G18.14 uc003uye.3 O43257 OTTHUMG00000157113 ENST00000305105.2:c.-264T>C chr7.hg19:g.100861213T>C NA Q6IB12 hg19 CCDS5716.1 0.02 12.892978 TCTxGTA COVERED 490 0.22435897435897437 120 0.24390243902439024 91 0.2513812154696133 98 0.17132867132867133 181 0.23878627968337732 C 9.760 1.169774 0.21621 . . ENSG00000106397 ENST00000414785 T 0.14640 2.49 2.91 1.99 0.26369 . . . . . T 0.00012 0.0000 . . . 0.51233 P 8.799999999997699E-5 . . . . . . T 0.44802 -0.9304 5 0.34782 T 0.22 . 4.6442 0.12563 0.0:0.6675:0.0:0.3325 rs17319250;rs59328141;rs17319250 . . . R 13 ENSP00000407551:Q13R ENSP00000407551:Q13R Q - 2 0 PLOD3 100647933 0.000000 0.05858 0.000000 0.03702 0.005000 0.04900 0.404000 0.20999 0.258000 0.21686 -0.355000 0.07637 CAA NOVEL ZNHIT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347488.1 1 68.20036 KEEP 0 1 38 240 7371 TT 1 1 0 + 13 60 443 0 0 26.638817 332 60 11941 746 ENST00000305105.2 0.037681 1 ZNHIT1 10467 __UNKNOWN__ __UNKNOWN__ 7 100861452 100861452 __UNKNOWN__ 5'UTR SNP T T C rs11769624 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:100861452T>C ENST00000305105.2 + 0 504 NM_006349.2 NP_006340.1 O43257 ZNHI1_HUMAN zinc finger, HIT-type containing 1 NA NA negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of histone deacetylation (GO:0031063)|regulation of T cell proliferation (GO:0042129) nucleus (GO:0005634) chromatin binding (GO:0003682)|metal ion binding (GO:0046872) breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2) 11 Lung NSC(181;0.168)|all_lung(186;0.215) GCGCAGCAGTTTCTTCCGACA 0.557 NA C||| 1202 0.240016 0.233 0.2161 5008 , , NA 17406 0.1746 NA 0.2505 False NA ,,, NA NA NA 2504 0.3231 NA NA NA NA 0 C 1019,3387 729.1+/-410.0 130,759,1314 146 126 133 1.5 0 7 dbSNP_120 133 2064,6536 718.9+/-406.2 265,1534,2501 no utr-5 ZNHIT1 NM_006349.2 395,2293,3815 CC,CT,TT 24.0,23.1276,23.7044 100861452 3083,9923 2203 4300 6503 SO:0001623 5_prime_UTR_variant AF093571 CCDS5716.1 7q22.1 2010-09-15 2010-09-15 2003-08-08 ENSG00000106400 ENSG00000106400 10467 Zinc fingers, HIT-type 21688 protein-coding gene gene with protein product putative cyclin G1 interacting protein zinc finger protein, subfamily 4A (HIT domain containing), member 1, zinc finger, HIT domain containing 1 ZNFN4A1 NA Standard NM_006349 NM_006349 NA Approved CG1I, H_DJ0747G18.14 uc003uye.3 O43257 OTTHUMG00000157113 ENST00000305105.2:c.-25T>C chr7.hg19:g.100861452T>C NA Q6IB12 hg19 CCDS5716.1 0.02 24.377681 AGTxTCT COVERED NOVEL ZNHIT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347488.1 5 52.886399 KEEP 0 1 32 187 5787 TT 1 1 0 + 17 60 666 0 0 42.313032 496 60 17657 871 ENST00000305105.2 0.033138 1 CLDN15 24146 __UNKNOWN__ __UNKNOWN__ 7 100877456 100877456 __UNKNOWN__ Intron SNP T T C rs2302428 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:100877456T>C ENST00000401528.1 - 3 1508 CLDN15_ENST00000308344.5_Intron NM_001185080.1 NP_001172009.1 P56746 CLD15_HUMAN claudin 15 NA NA calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|ion transport (GO:0006811)|tight junction assembly (GO:0070830) integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923) identical protein binding (GO:0042802)|structural molecule activity (GO:0005198) endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 10 Lung NSC(181;0.168)|all_lung(186;0.215) GTAGGGGAGGTGAGCATGAGG 0.582 NA C||| 1828 0.365016 0.5817 0.2637 5008 , , NA 17081 0.1696 NA 0.3042 False NA ,,, NA NA NA 2504 0.408 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ245738 CCDS5717.1 7q22 2008-07-18 ENSG00000106404 ENSG00000106404 24146 Claudins 2036 protein-coding gene gene with protein product 615778 NA Standard NM_014343 NM_014343 NA Approved uc003uyg.2 P56746 OTTHUMG00000150512 ENST00000401528.1:c.382+102A>G chr7.hg19:g.100877456T>C NA B3KPB5 hg19 CCDS5717.1 0.02 1.737353 AGGxGAG COVERED NOVEL CLDN15-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000318698.1 0 4.810952 KEEP 0 0 0 16 478 TT 0.997832 0.997771 0 - 4 60 145 0 0 9.17307 93 60 3209 127 ENST00000401528.1 0.041237 0.99994 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 100929528 100929528 __UNKNOWN__ IGR SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:100929528G>A NA NA RNU6-1104P (16206 upstream) : RP11-132A1.3 (13365 downstream) NA NA NA tatgctcatagatgggcctgg 0.463 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.100929528G>A NA hg19 0.02 2.152584 ATAxATG COVERED NOVEL 0 0 3.010008 KEEP 0 0 0 10 373 GG 0.992708 0.982326 0 4 49 145 0 0 9.998211 57 60 2221 95 0.065574 0.989542 CUX1 1523 __UNKNOWN__ __UNKNOWN__ 7 101556109 101556109 __UNKNOWN__ 3'UTR SNP G G T rs10240601 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:101556109G>T ENST00000560541.1 + 0 42 CUX1_ENST00000556210.1_Intron|CUX1_ENST00000360264.3_Intron|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000549414.2_Intron|CUX1_ENST00000546411.2_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000550008.2_Intron|CUX1_ENST00000292535.7_Intron|CUX1_ENST00000425244.2_Intron P39880 CUX1_HUMAN cut-like homeobox 1 NA NA auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301) cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634) chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565) breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 GGAGGAGGTTGGGTCCAGGTT 0.468 NA G||| 1382 0.275958 0.0976 0.33 5008 , , NA 19480 0.5506 NA 0.1163 False NA ,,, NA NA NA 2504 0.3599 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M74099 CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1 7q22.1 2012-10-03 2007-11-07 2007-11-07 ENSG00000257923 ENSG00000257923 1523 Homeoboxes / CUT class 2557 protein-coding gene gene with protein product golgi integral membrane protein 6 116896 cut (Drosophila)-like 1 (CCAAT displacement protein), cut-like 1, CCAAT displacement protein (Drosophila) CUTL1 NA 8468066, 9799793, 15004235 Standard NM_001913 NM_001202543 NA Approved CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6 uc003uyx.4 P39880 OTTHUMG00000157129 ENST00000560541.1:c.*39G>T chr7.hg19:g.101556109G>T NA B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5 hg19 0.02 6.689313 GTTxGGT COVERED NOVEL CUX1-019 KNOWN basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000418419.1 0 23.776413 KEEP 0 0 0 79 2768 GG 1 1 0 + 8 60 297 0 0 19.553636 160 60 6007 280 ENST00000560541.1 0.047619 1 CUX1 1523 __UNKNOWN__ __UNKNOWN__ 7 101837149 101837149 __UNKNOWN__ 3'UTR SNP G G A rs11540899|rs2230104 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:101837149G>A ENST00000560541.1 + 0 1725 CUX1_ENST00000292535.7_Silent_p.P368P|CUX1_ENST00000549414.2_Silent_p.P368P|CUX1_ENST00000425244.2_Silent_p.P333P|CUX1_ENST00000550008.2_Silent_p.P368P|CUX1_ENST00000546411.2_Silent_p.P368P|CUX1_ENST00000360264.3_Silent_p.P379P|CUX1_ENST00000393824.3_Silent_p.P340P|CUX1_ENST00000556210.1_Silent_p.P368P|CUX1_ENST00000547394.2_Silent_p.P363P|CUX1_ENST00000292538.4_Silent_p.P379P|CUX1_ENST00000437600.4_Silent_p.P377P P39880 CUX1_HUMAN cut-like homeobox 1 NA NA auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301) cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634) chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565) breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 AGTTTGCACCGTCCGAGGGCG 0.527 NA G||| 1495 0.298522 0.3646 0.2738 5008 , , NA 19932 0.0675 NA 0.3857 False NA ,,, NA NA NA 2504 0.3753 NA NA NA NA 0 G ,,,,,, 1667,2739 507.1+/-366.6 331,1005,867 82 69 73 1137,1089,999,1020,1137,1131,1104 -8.6 0 7 dbSNP_120 73 3374,5226 499.2+/-374.9 652,2070,1578 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous CUX1 NM_001202543.1,NM_001202544.1,NM_001202545.1,NM_001202546.1,NM_001913.3,NM_181500.2,NM_181552.3 ,,,,,, 983,3075,2445 AA,AG,GG 39.2326,37.8348,38.759 ,,,,,, 379/1517,363/663,333/633,340/640,379/679,377/677,368/1506 101837149 5041,7965 2203 4300 6503 SO:0001624 3_prime_UTR_variant M74099 CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1 7q22.1 2012-10-03 2007-11-07 2007-11-07 ENSG00000257923 ENSG00000257923 1523 Homeoboxes / CUT class 2557 protein-coding gene gene with protein product golgi integral membrane protein 6 116896 cut (Drosophila)-like 1 (CCAAT displacement protein), cut-like 1, CCAAT displacement protein (Drosophila) CUTL1 NA 8468066, 9799793, 15004235 Standard NM_001913 NM_001202543 NA Approved CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6 uc003uyx.4 P39880 OTTHUMG00000157129 ENST00000560541.1:c.*1722G>A chr7.hg19:g.101837149G>A NA B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5 hg19 0.02 5.997653 ACCxTCC COVERED NOVEL CUX1-019 KNOWN basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000418419.1 7 19.998288 KEEP 0 1 30 77 2683 GG 1 1 0 + 6 60 219 0 0 13.201252 184 60 6416 343 ENST00000560541.1 0.031579 1 CUX1 1523 __UNKNOWN__ __UNKNOWN__ 7 101844851 101844851 __UNKNOWN__ Intron SNP A A G rs60987662 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:101844851A>G ENST00000560541.1 + 14 1843 CUX1_ENST00000292535.7_Silent_p.P758P|CUX1_ENST00000549414.2_Silent_p.P736P|CUX1_ENST00000550008.2_Silent_p.P702P|CUX1_ENST00000546411.2_Silent_p.P656P|CUX1_ENST00000360264.3_Silent_p.P769P|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000556210.1_Silent_p.P600P|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000437600.4_Intron P39880 CUX1_HUMAN cut-like homeobox 1 NA NA auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301) cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634) chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565) breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 CCAGCTACCCACCTCTCGCCA 0.647 NA G||| 1586 0.316693 0.4206 0.2824 5008 , , NA 15026 0.0784 NA 0.3837 False NA ,,, NA NA NA 2504 0.3773 NA NA NA NA 0 G ,,,,,, 1872,2534 630.7+/-395.5 409,1054,740 122 131 128 2307,,,,,,2274 -10.1 0 7 dbSNP_129 128 3335,5265 642.8+/-399.9 638,2059,1603 no coding-synonymous,intron,intron,intron,intron,intron,coding-synonymous CUX1 NM_001202543.1,NM_001202544.1,NM_001202545.1,NM_001202546.1,NM_001913.3,NM_181500.2,NM_181552.3 ,,,,,, 1047,3113,2343 GG,GA,AA 38.7791,42.4875,40.0354 ,,,,,, 769/1517,,,,,,758/1506 101844851 5207,7799 2203 4300 6503 SO:0001627 intron_variant M74099 CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1 7q22.1 2012-10-03 2007-11-07 2007-11-07 ENSG00000257923 ENSG00000257923 1523 Homeoboxes / CUT class 2557 protein-coding gene gene with protein product golgi integral membrane protein 6 116896 cut (Drosophila)-like 1 (CCAAT displacement protein), cut-like 1, CCAAT displacement protein (Drosophila) CUTL1 NA 8468066, 9799793, 15004235 Standard NM_001913 NM_001202543 NA Approved CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6 uc003uyx.4 P39880 OTTHUMG00000157129 ENST00000560541.1:c.1843+5968A>G chr7.hg19:g.101844851A>G NA B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5 hg19 0.02 13.839169 CCCxCCT COVERED NOVEL CUX1-019 KNOWN basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000418419.1 5 26.941438 KEEP 0 1 9 93 2853 AA 1 1 0 + 11 60 386 0 0 23.534221 306 60 10230 555 ENST00000560541.1 0.0347 1 CUX1 1523 __UNKNOWN__ __UNKNOWN__ 7 101900294 101900294 __UNKNOWN__ Intron SNP G G A rs3087658 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:101900294G>A ENST00000560541.1 + 15 1843 CUX1_ENST00000292535.7_3'UTR|CUX1_ENST00000360264.3_3'UTR|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000437600.4_Intron P39880 CUX1_HUMAN cut-like homeobox 1 NA NA auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301) cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634) chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565) breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 CAACGTGGAGGAAGGTTGGGT 0.557 NA G||| 874 0.174521 0.1059 0.2334 5008 , , NA 16209 0.0516 NA 0.3082 False NA ,,, NA NA NA 2504 0.2147 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M74099 CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1 7q22.1 2012-10-03 2007-11-07 2007-11-07 ENSG00000257923 ENSG00000257923 1523 Homeoboxes / CUT class 2557 protein-coding gene gene with protein product golgi integral membrane protein 6 116896 cut (Drosophila)-like 1 (CCAAT displacement protein), cut-like 1, CCAAT displacement protein (Drosophila) CUTL1 NA 8468066, 9799793, 15004235 Standard NM_001913 NM_001202543 NA Approved CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6 uc003uyx.4 P39880 OTTHUMG00000157129 ENST00000560541.1:c.1844-16343G>A chr7.hg19:g.101900294G>A NA B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5 hg19 0.02 6.354838 GAGxAAG COVERED NOVEL CUX1-019 KNOWN basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000418419.1 0 7.825169 KEEP 0 0 0 26 921 GG 0.999957 0.999957 0 + 7 60 254 0 0 16.035361 165 60 6186 244 ENST00000560541.1 0.040698 1 PRKRIP1 79706 __UNKNOWN__ __UNKNOWN__ 7 102046359 102046359 __UNKNOWN__ Intron SNP G G C rs6955864 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:102046359G>C ENST00000462601.1 + 3 291 PRKRIP1_ENST00000496391.1_Intron|PRKRIP1_ENST00000482465.1_Intron|PRKRIP1_ENST00000354783.4_Intron|PRKRIP1_ENST00000397912.3_Intron Q9H875 PKRI1_HUMAN PRKR interacting protein 1 (IL11 inducible) NA NA negative regulation of phosphorylation (GO:0042326)|negative regulation of protein kinase activity (GO:0006469)|renal system process (GO:0003014) extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730) double-stranded RNA binding (GO:0003725)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860) endometrium(1)|lung(4)|ovary(1) 6 atttgaagaagtcttggaaag 0.388 NA C||| 3840 0.766773 0.7443 0.8573 5008 , , NA 19065 0.7321 NA 0.827 False NA ,,, NA NA NA 2504 0.7065 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK023964 CCDS34714.1 7q22.1 2013-01-09 ENSG00000128563 ENSG00000128563 79706 Zinc fingers, C2H2-type, - 21894 protein-coding gene gene with protein product likely ortholog of mouse C114 dsRNA-binding protein, KRAB box domain containing 3 NA 12679338 Standard NM_024653 NM_024653 NA Approved C114, FLJ13902, KRBOX3 uc003uzh.2 Q9H875 OTTHUMG00000157717 ENST00000462601.1:c.221+1229G>C chr7.hg19:g.102046359G>C NA B4DGM2|Q8NDM6|Q96CF8 hg19 0.02 1.736977 GAAxTCT COVERED NOVEL PRKRIP1-005 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000349487.1 1 6.621829 KEEP 0 0 0 22 806 GG 0.999879 0.999818 0 + 4 60 139 0 0 8.573241 93 60 3490 142 ENST00000462601.1 0.041237 0.99994 ORAI2 80228 __UNKNOWN__ __UNKNOWN__ 7 102087202 102087202 __UNKNOWN__ Silent SNP T T C rs1129271 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:102087202T>C ENST00000356387.2 + 4 703 c.468T>C c.(466-468)ctT>ctC p.L156L ORAI2_ENST00000478730.2_Silent_p.L156L|ORAI2_ENST00000403646.3_Silent_p.L156L|ORAI2_ENST00000473939.1_Silent_p.L156L|ORAI2_ENST00000488996.1_3'UTR NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3 NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1 Q96SN7 ORAI2_HUMAN ORAI calcium release-activated calcium modulator 2 156 NA growth cone (GO:0030426)|integral component of membrane (GO:0016021) autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 15 CCACCGTGCTTGGCATCCTAC 0.652 NA C||| 1169 0.233427 0.2466 0.2248 5008 , , NA 19626 0.502 NA 0.0368 False NA ,,, NA NA NA 2504 0.1472 NA NA NA NA 0 C , 963,3443 734.0+/-410.5 105,753,1345 159 157 158 468,468 -10 0 7 dbSNP_86 158 264,8336 807.7+/-407.2 5,254,4041 no coding-synonymous,coding-synonymous ORAI2 NM_001126340.1,NM_032831.2 , 110,1007,5386 CC,CT,TT 3.0698,21.8566,9.4341 , 156/255,156/255 102087202 1227,11779 2203 4300 6503 SO:0001819 synonymous_variant AF258552 CCDS5722.1 7q22.1 2007-08-14 2007-08-14 2007-08-14 ENSG00000160991 ENSG00000160991 80228 ORAI calcium release-activated calcium modulators 21667 protein-coding gene gene with protein product CAP-binding protein complex interacting protein 2 610929 chromosome 7 open reading frame 19, transmembrane protein 142B C7orf19, TMEM142B NA 16582901 Standard NM_032831 NM_001126340 NA Approved CBCIP2, FLJ12474, FLJ14733, H_NH0514P08.8 uc003uzj.3 Q96SN7 OTTHUMG00000157722 ENST00000356387.2:c.468T>C chr7.hg19:g.102087202T>C NA Q6IA68|Q8WY94|Q9H9Y3 hg19 CCDS5722.1 0.02 24.019684 GCTxGGC COVERED NOVEL ORAI2-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000349509.2 6 39.096644 KEEP 0 0 0 130 3969 TT 1 1 0 + 24 60 840 0 0 51.956337 563 60 20588 883 ENST00000356387.2 0.040886 1 ORAI2 80228 __UNKNOWN__ __UNKNOWN__ 7 102092125 102092125 __UNKNOWN__ 3'UTR SNP G G A rs3800986 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:102092125G>A ENST00000356387.2 + 0 5626 NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3 NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1 Q96SN7 ORAI2_HUMAN ORAI calcium release-activated calcium modulator 2 NA NA growth cone (GO:0030426)|integral component of membrane (GO:0016021) autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 15 TGGCCCTCCCGTGGCATCTGC 0.582 NA G||| 1089 0.217452 0.2398 0.2277 5008 , , NA 17202 0.4425 NA 0.0378 False NA ,,, NA NA NA 2504 0.1329 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF258552 CCDS5722.1 7q22.1 2007-08-14 2007-08-14 2007-08-14 ENSG00000160991 ENSG00000160991 80228 ORAI calcium release-activated calcium modulators 21667 protein-coding gene gene with protein product CAP-binding protein complex interacting protein 2 610929 chromosome 7 open reading frame 19, transmembrane protein 142B C7orf19, TMEM142B NA 16582901 Standard NM_032831 NM_001126340 NA Approved CBCIP2, FLJ12474, FLJ14733, H_NH0514P08.8 uc003uzj.3 Q96SN7 OTTHUMG00000157722 ENST00000356387.2:c.*4626G>A chr7.hg19:g.102092125G>A NA Q6IA68|Q8WY94|Q9H9Y3 hg19 CCDS5722.1 0.02 10.587167 CCCxTGG COVERED NOVEL ORAI2-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000349509.2 1 15.648586 KEEP 0 0 0 52 1755 GG 1 1 0 + 14 60 486 0 0 30.945277 276 60 9761 412 ENST00000356387.2 0.048276 1 ORAI2 80228 __UNKNOWN__ __UNKNOWN__ 7 102092461 102092461 __UNKNOWN__ 3'UTR SNP G G T rs73712488 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:102092461G>T ENST00000356387.2 + 0 5962 NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3 NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1 Q96SN7 ORAI2_HUMAN ORAI calcium release-activated calcium modulator 2 NA NA growth cone (GO:0030426)|integral component of membrane (GO:0016021) autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 15 CCCTTGAGGAGAGGAGCTACC 0.627 NA G||| 1087 0.217053 0.239 0.2277 5008 , , NA 16741 0.4415 NA 0.0378 False NA ,,, NA NA NA 2504 0.1329 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF258552 CCDS5722.1 7q22.1 2007-08-14 2007-08-14 2007-08-14 ENSG00000160991 ENSG00000160991 80228 ORAI calcium release-activated calcium modulators 21667 protein-coding gene gene with protein product CAP-binding protein complex interacting protein 2 610929 chromosome 7 open reading frame 19, transmembrane protein 142B C7orf19, TMEM142B NA 16582901 Standard NM_032831 NM_001126340 NA Approved CBCIP2, FLJ12474, FLJ14733, H_NH0514P08.8 uc003uzj.3 Q96SN7 OTTHUMG00000157722 ENST00000356387.2:c.*4962G>T chr7.hg19:g.102092461G>T NA Q6IA68|Q8WY94|Q9H9Y3 hg19 CCDS5722.1 0.02 4.428273 GGAxAGG COVERED NOVEL ORAI2-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000349509.2 2 8.126607 KEEP 0 0 0 27 966 GG 0.999988 0.999978 0 + 6 60 209 0 0 13.707423 102 60 3854 162 ENST00000356387.2 0.055556 0.999991 ORAI2 80228 __UNKNOWN__ __UNKNOWN__ 7 102095218 102095218 __UNKNOWN__ 3'UTR SNP A A G rs4336541 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:102095218A>G ENST00000356387.2 + 0 8719 NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3 NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1 Q96SN7 ORAI2_HUMAN ORAI calcium release-activated calcium modulator 2 NA NA growth cone (GO:0030426)|integral component of membrane (GO:0016021) autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 15 GAGAGTGGGCAGCCTGGTCTG 0.607 NA G||| 1118 0.223243 0.239 0.2277 5008 , , NA 20932 0.4722 NA 0.0378 False NA ,,, NA NA NA 2504 0.1329 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF258552 CCDS5722.1 7q22.1 2007-08-14 2007-08-14 2007-08-14 ENSG00000160991 ENSG00000160991 80228 ORAI calcium release-activated calcium modulators 21667 protein-coding gene gene with protein product CAP-binding protein complex interacting protein 2 610929 chromosome 7 open reading frame 19, transmembrane protein 142B C7orf19, TMEM142B NA 16582901 Standard NM_032831 NM_001126340 NA Approved CBCIP2, FLJ12474, FLJ14733, H_NH0514P08.8 uc003uzj.3 Q96SN7 OTTHUMG00000157722 ENST00000356387.2:c.*7719A>G chr7.hg19:g.102095218A>G NA Q6IA68|Q8WY94|Q9H9Y3 hg19 CCDS5722.1 0.02 19.848926 GGCxGCC COVERED NOVEL ORAI2-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000349509.2 2 17.150513 KEEP 0 0 0 57 1775 AA 1 1 0 + 14 60 489 0 0 27.963703 481 60 18027 681 ENST00000356387.2 0.028283 1 ALKBH4 54784 __UNKNOWN__ __UNKNOWN__ 7 102097555 102097555 __UNKNOWN__ 3'UTR SNP T T C rs4727525 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:102097555T>C ENST00000292566.3 - 0 1234 NM_017621.3 NP_060091.1 Q9NXW9 ALKB4_HUMAN alkB, alkylation repair homolog 4 (E. coli) NA NA actomyosin structure organization (GO:0031032)|cleavage furrow ingression (GO:0036090)|protein demethylation (GO:0006482)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) contractile ring (GO:0070938)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634) actin binding (GO:0003779)|demethylase activity (GO:0032451)|metal ion binding (GO:0046872)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706) kidney(1)|lung(5)|skin(2) 8 ggattacaggtgtgagccact 0.512 NA C||| 1012 0.202077 0.1717 0.2233 5008 , , NA 16934 0.4554 NA 0.0368 False NA ,,, NA NA NA 2504 0.137 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC017096 CCDS5723.1 7q22.1 2006-02-09 ENSG00000160993 ENSG00000160993 54784 Alkylation repair homologs 21900 protein-coding gene gene with protein product 613302 NA Standard NM_017621 NM_017621 NA Approved FLJ20013 uc003uzl.3 Q9NXW9 OTTHUMG00000157720 ENST00000292566.3:c.*286A>G chr7.hg19:g.102097555T>C NA Q53H92|Q9H6A4 hg19 CCDS5723.1 0.02 -0.394753 AGGxGTG COVERED NOVEL ALKBH4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000349503.1 2 4.811004 KEEP 0 0 0 16 451 TT 0.999366 0.926053 0 - 3 60 123 0 0 8.945292 42 60 1430 74 ENST00000292566.3 0.066667 0.92664 LRWD1 222229 __UNKNOWN__ __UNKNOWN__ 7 102112980 102112980 __UNKNOWN__ Silent SNP G G A rs3800987 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:102112980G>A ENST00000292616.5 + 13 1766 c.1614G>A c.(1612-1614)acG>acA p.T538T NM_152892.1 NP_690852.1 Q9UFC0 LRWD1_HUMAN leucine-rich repeats and WD repeat domain containing 1 538 NA chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA replication initiation (GO:0006270)|establishment of protein localization to chromatin (GO:0071169) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|telomeric heterochromatin (GO:0031933) chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2) 20 GCCAGTCCACGGTGGCAGTGG 0.716 NA G||| 2312 0.461661 0.3139 0.5519 5008 , , NA 15340 0.372 NA 0.662 False NA ,,, NA NA NA 2504 0.4836 NA NA NA NA 0 G 1560,2790 317,926,932 11 9 10 1614 -10.2 0 7 dbSNP_107 10 5482,3026 1822,1838,594 no coding-synonymous LRWD1 NM_152892.1 2139,2764,1526 AA,AG,GG 35.5665,35.8621,45.2325 538/648 102112980 7042,5816 2175 4254 6429 SO:0001819 synonymous_variant AL133057 CCDS34715.1 7q22.1 2013-01-10 ENSG00000161036 ENSG00000161036 222229 WD repeat domain containing 21769 protein-coding gene gene with protein product origin recognition complex associated, centromere protein 33 615167 NA 20932478, 20850016, 20180869 Standard NM_152892 NM_152892 NA Approved DKFZp434K1815, ORCA, CENP-33 uc003uzn.3 Q9UFC0 OTTHUMG00000157718 ENST00000292616.5:c.1614G>A chr7.hg19:g.102112980G>A NA A8K4K2|B2R9G2|Q8N0T9|Q8WV43|Q96GJ2 hg19 CCDS34715.1 0.02 8.647362 CACxGTG COVERED 1113 0.5096153846153846 173 0.3516260162601626 215 0.5939226519337016 227 0.3968531468531469 498 0.6569920844327177 G 0.094 -1.162080 0.01673 0.358621 0.644335 ENSG00000161036 ENST00000488689;ENST00000468175 . . . 5.1 -10.2 0.00374 . . . . . T 0.00012 0.0000 . . . 0.51767 P 6.799999999995698E-5 . . . . . . T 0.16719 -1.0393 3 . . . -0.1259 4.6709 0.12689 0.5376:0.2198:0.0955:0.1471 rs3800987;rs10316934;rs13244777;rs17845221;rs17858035;rs17858491 . . . Q 149;124 . . R + 2 0 LRWD1 101899985 0.000000 0.05858 0.000000 0.03702 0.027000 0.11550 -7.784000 0.00030 -3.315000 0.00189 -1.058000 0.02302 CGG NOVEL LRWD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000349493.1 1 15.608169 KEEP 0 2 63 74 2478 GG 1 1 0 + 10 60 354 0 0 22.154276 229 60 7762 392 ENST00000292616.5 0.041841 1 RASA4B 100271927 __UNKNOWN__ __UNKNOWN__ 7 102136576 102136576 __UNKNOWN__ Intron SNP T T C rs200508577 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:102136576T>C ENST00000465829.1 - 11 1142 RP11-514P8.8_ENST00000481893.1_RNA|RASA4B_ENST00000306682.6_Intron|RASA4B_ENST00000541662.1_Intron C9J798 RAS4B_HUMAN RAS p21 protein activator 4B NA NA intracellular signal transduction (GO:0035556)|regulation of small GTPase mediated signal transduction (GO:0051056) cytoplasm (GO:0005737)|plasma membrane (GO:0005886) GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872) skin(1) 1 caatatagcatgcaacctcaC 0.512 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS59506.1 7q22.1 2013-01-10 ENSG00000170667 ENSG00000170667 100271927 Pleckstrin homology (PH) domain containing 35202 protein-coding gene gene with protein product NA Standard XM_003118600 NM_001277335 NA Approved uc003uzu.2 C9J798 OTTHUMG00000022944 ENST00000465829.1:c.1071+10A>G chr7.hg19:g.102136576T>C NA hg19 0.02 10.196406 GCAxGCA COVERED NOVEL RASA4B-001 KNOWN basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000059600.6 2 23.168179 KEEP 13 0 0 77 2393 TT 1 1 0 - 10 40 353 0 0 21.194205 280 60 10405 471 ENST00000465829.1 0.034483 1 POLR2J2 246721 __UNKNOWN__ __UNKNOWN__ 7 102277632 102277632 __UNKNOWN__ 3'UTR SNP T T A rs60135736 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:102277632T>A ENST00000476151.1 - 0 1461 POLR2J2_ENST00000591000.1_3'UTR|RP11-514P8.6_ENST00000519541.1_Intron|UPK3BL_ENST00000340457.8_3'UTR Q9GZM3 RPB1B_HUMAN polymerase (RNA) II (DNA directed) polypeptide J2 NA NA transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899) skin(1) 1 gatcacaaggtcaagagatgg 0.542 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS43627.1 7q22.1 2014-08-12 ENSG00000228049 ENSG00000267645 246721 RNA polymerase subunits 23208 protein-coding gene gene with protein product 609881 NA 15586814 Standard NM_032959 NA Approved RPB11b1 uc010lij.2 Q9GZM3 OTTHUMG00000150388 ENST00000476151.1:c.*1074A>T chr7.hg19:g.102277632T>A NA F6W009|Q9H1A8 hg19 CCDS43627.1 0.02 2.041947 AGGxCAA COVERED NOVEL POLR2J2-001 KNOWN basic|appris_principal|readthrough_transcript|CCDS nonsense_mediated_decay NA protein_coding OTTHUMT00000453068.1 7 4.212836 KEEP 0 0 0 14 450 TT 0.995343 0.994967 0 - 10 57 347 0 0 26.442338 69 60 2431 109 ENST00000476151.1 0.126582 0.999622 FAM185A 222234 __UNKNOWN__ __UNKNOWN__ 7 102448664 102448664 __UNKNOWN__ Intron SNP C C T rs57253646 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:102448664C>T ENST00000413034.2 + 8 1066 FAM185A_ENST00000409231.3_Intron NM_001145268.1 NP_001138740 Q8N0U4 F185A_HUMAN family with sequence similarity 185, member A NA NA kidney(1) 1 TTTTCAGTTTCAGAGATGTGT 0.388 NA T||| 1560 0.311502 0.2806 0.1816 5008 , , NA 21509 0.5645 NA 0.1193 False NA ,,, NA NA NA 2504 0.3824 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC029175 CCDS47676.1, CCDS47677.1 7q22.1 2009-07-09 ENSG00000222011 ENSG00000222011 222234 22412 protein-coding gene gene with protein product NA Standard NM_001145268 NM_001145268 NA Approved MGC35361 uc011klf.2 Q8N0U4 OTTHUMG00000154140 ENST00000413034.2:c.1067-73C>T chr7.hg19:g.102448664C>T NA A8MUR7|B4DQD3|C9IZ91 hg19 CCDS47676.1 0.02 3.703842 TTTxAGA COVERED NOVEL FAM185A-009 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000349482.1 1 3.912603 KEEP 0 0 0 13 442 CC 0.994391 0.994384 0 + 6 60 203 0 0 13.031675 105 60 3852 125 ENST00000413034.2 0.054054 0.999994 FBXL13 222235 __UNKNOWN__ __UNKNOWN__ 7 102462636 102462636 __UNKNOWN__ Silent SNP T T C rs10279449 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:102462636T>C ENST00000313221.4 - 19 2295 c.1869A>G c.(1867-1869)gcA>gcG p.A623A FBXL13_ENST00000455112.2_Silent_p.A578A|FBXL13_ENST00000379306.3_Silent_p.A341A|FBXL13_ENST00000436908.1_Silent_p.A623A|FBXL13_ENST00000379305.3_Silent_p.A595A|FBXL13_ENST00000379308.3_Silent_p.A578A|FBXL13_ENST00000393772.2_Silent_p.A595A|FBXL13_ENST00000456695.1_Silent_p.A341A NM_145032.3 NP_659469.3 Q8NEE6 FXL13_HUMAN F-box and leucine-rich repeat protein 13 623 NA NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1) 27 ACATCTCCATTGCTGAGTCAG 0.418 NA C||| 2621 0.523363 0.7451 0.3602 5008 , , NA 21922 0.5744 NA 0.3181 False NA ,,, NA NA NA 2504 0.498 NA NA NA NA 0 C , 3005,1401 461.1+/-352.8 1018,969,216 142 126 132 1734,1869 -7.6 0 7 dbSNP_119 132 3058,5542 661.9+/-401.9 542,1974,1784 no coding-synonymous,coding-synonymous FBXL13 NM_001111038.1,NM_145032.3 , 1560,2943,2000 CC,CT,TT 35.5581,31.7975,46.6169 , 578/691,623/736 102462636 6063,6943 2203 4300 6503 SO:0001819 synonymous_variant BC031285 CCDS5726.1, CCDS47678.1, CCDS75649.1 7q22.1 2014-07-18 ENSG00000161040 ENSG00000161040 222235 F-boxes / Leucine-rich repeats 21658 protein-coding gene gene with protein product 609080 NA Standard NM_145032 NM_145032 NA Approved MGC21636, Fbl13 uc003vaq.2 Q8NEE6 OTTHUMG00000157224 ENST00000313221.4:c.1869A>G chr7.hg19:g.102462636T>C NA C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0 hg19 CCDS5726.1 0.02 9.491761 CATxGCT COVERED NOVEL FBXL13-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000348001.1 1 15.321674 KEEP 0 1 8 54 1722 TT 1 1 0 - 13 60 449 0 0 29.04264 233 60 8561 368 ENST00000313221.4 0.052846 1 LRRC17 10234 __UNKNOWN__ __UNKNOWN__ 7 102553603 102553603 __UNKNOWN__ Intron SNP C C G rs17135923 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:102553603C>G ENST00000339431.4 + 1 155 FBXL13_ENST00000455112.2_Missense_Mutation_p.G313A|FBXL13_ENST00000379306.3_Missense_Mutation_p.G313A|LRRC17_ENST00000249377.4_Intron|FBXL13_ENST00000436908.1_Missense_Mutation_p.G313A|FBXL13_ENST00000379305.3_Missense_Mutation_p.G313A|FBXL13_ENST00000379308.3_Missense_Mutation_p.G313A|FBXL13_ENST00000313221.4_Missense_Mutation_p.G313A|FBXL13_ENST00000393772.2_Missense_Mutation_p.G313A|FBXL13_ENST00000456695.1_Missense_Mutation_p.G313A NM_001031692.2 NP_001026862.1 Q8N6Y2 LRC17_HUMAN leucine rich repeat containing 17 NA NA bone marrow development (GO:0048539)|negative regulation of osteoclast differentiation (GO:0045671)|ossification (GO:0001503) extracellular space (GO:0005615) NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 17 GTACTGTAAGCCTTTGTCTGT 0.458 NA C||| 512 0.102236 0.1293 0.0389 5008 , , NA 19833 0.1984 NA 0.0378 False NA ,,, NA NA NA 2504 0.0777 NA NA NA NA 0 C ,ALA/GLY,,ALA/GLY 525,3881 238.4+/-249.8 26,473,1704 155 138 144 ,938,,938 4.5 1 7 dbSNP_123 144 323,8277 113.7+/-173.7 9,305,3986 yes intron,missense,intron,missense LRRC17,FBXL13 NM_001031692.2,NM_001111038.1,NM_005824.2,NM_145032.3 ,60,,60 35,778,5690 GG,GC,CC 3.7558,11.9156,6.5201 ,probably-damaging,,probably-damaging ,313/691,,313/736 102553603 848,12158 2203 4300 6503 SO:0001627 intron_variant U32907 CCDS5727.1, CCDS34721.1 7q22.1 2009-05-26 ENSG00000128606 ENSG00000128606 10234 16895 protein-coding gene gene with protein product NA 8982252, 19336404 Standard NM_005824 NM_005824 NA Approved P37NB, H_RG318M05.3 uc003vau.3 Q8N6Y2 OTTHUMG00000157210 ENST00000339431.4:c.-141+11C>G chr7.hg19:g.102553603C>G NA Q13288|Q6UWA7|Q75MG5 hg19 CCDS34721.1 0.02 10.82706 AAGxCTT COVERED 216 0.0989010989010989 62 0.12601626016260162 11 0.03038674033149171 116 0.20279720279720279 27 0.03562005277044855 C 22.0 4.230657 0.79688 0.119156 0.037558 ENSG00000161040 ENST00000393772;ENST00000379308;ENST00000379306;ENST00000379305;ENST00000436908;ENST00000313221;ENST00000456695;ENST00000455112 T;T;T;T;T;T;T;T 0.04862 3.54;3.54;4.45;3.54;3.54;3.54;4.45;3.54 5.43 4.52 0.55395 . 0.000000 0.85682 D 0.000000 T 0.00039 0.0001 M 0.64567 1.98 0.09310 P 1.0 D;D;D;D 0.89917 0.966;0.999;0.999;1.0 P;D;D;D 0.78314 0.872;0.985;0.968;0.991 T 0.01848 -1.1261 9 0.87932 D 0 . 16.461 0.84055 0.0:0.8696:0.1304:0.0 rs17135923;rs52833746;rs57769241;rs17135923 313;313;313;313 Q8NEE6-3;Q8NEE6-4;Q8NEE6-2;Q8NEE6 .;.;.;FXL13_HUMAN A 313 ENSP00000377367:G313A;ENSP00000368610:G313A;ENSP00000368608:G313A;ENSP00000368607:G313A;ENSP00000388608:G313A;ENSP00000321927:G313A;ENSP00000409716:G313A;ENSP00000391550:G313A ENSP00000321927:G313A G - 2 0 FBXL13 102340839 1.000000 0.71417 1.000000 0.80357 0.994000 0.84299 4.643000 0.61390 2.826000 0.97356 0.655000 0.94253 GGC NOVEL LRRC17-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347930.1 4 40.631914 KEEP 0 0 0 135 4806 CC 1 1 0 + 12 60 445 0 0 28.815083 263 60 9727 543 ENST00000339431.4 0.043636 1 LRRC17 10234 __UNKNOWN__ __UNKNOWN__ 7 102574651 102574651 __UNKNOWN__ Silent SNP G G A rs35321082 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:102574651G>A ENST00000339431.4 + 2 586 c.291G>A c.(289-291)aaG>aaA p.K97K FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000379306.3_Intron|LRRC17_ENST00000249377.4_Silent_p.K97K|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000456695.1_Intron NM_001031692.2 NP_001026862.1 Q8N6Y2 LRC17_HUMAN leucine rich repeat containing 17 97 NA bone marrow development (GO:0048539)|negative regulation of osteoclast differentiation (GO:0045671)|ossification (GO:0001503) extracellular space (GO:0005615) NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 17 GCACATTGAAGAACAACATGT 0.398 NA G||| 120 0.0239617 0.0091 0.0043 5008 , , NA 21659 0.0645 NA 0.002 False NA ,,, NA NA NA 2504 0.0389 NA NA NA NA 0 G ,,, 25,4381 30.8+/-60.4 0,25,2178 61 62 61 291,,291, 3 1 7 dbSNP_126 61 35,8565 22.8+/-68.1 1,33,4266 no coding-synonymous,intron,coding-synonymous,intron LRRC17,FBXL13 NM_001031692.2,NM_001111038.1,NM_005824.2,NM_145032.3 ,,, 1,58,6444 AA,AG,GG 0.407,0.5674,0.4613 ,,, 97/442,,97/314, 102574651 60,12946 2203 4300 6503 SO:0001819 synonymous_variant U32907 CCDS5727.1, CCDS34721.1 7q22.1 2009-05-26 ENSG00000128606 ENSG00000128606 10234 16895 protein-coding gene gene with protein product NA 8982252, 19336404 Standard NM_005824 NM_005824 NA Approved P37NB, H_RG318M05.3 uc003vau.3 Q8N6Y2 OTTHUMG00000157210 ENST00000339431.4:c.291G>A chr7.hg19:g.102574651G>A NA Q13288|Q6UWA7|Q75MG5 hg19 CCDS34721.1 0.02 12.88563 GAAxAAC COVERED NOVEL LRRC17-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347930.1 1 101.118055 KEEP 0 0 0 336 11963 GG 1 1 0 + 10 60 370 0 0 22.400906 314 60 11870 854 ENST00000339431.4 0.030864 1 FBXL13 222235 __UNKNOWN__ __UNKNOWN__ 7 102616515 102616515 __UNKNOWN__ Intron SNP G G A rs2228686 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:102616515G>A ENST00000313221.4 - 7 922 FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000436908.1_Intron|NFE4_ENST00000420058.1_RNA|FBXL13_ENST00000471074.1_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000456695.1_Intron NM_145032.3 NP_659469.3 Q8NEE6 FXL13_HUMAN F-box and leucine-rich repeat protein 13 NA NA NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1) 27 gttggactgtgagcggcccct 0.612 NA G||| 1474 0.294329 0.1997 0.1873 5008 , , NA 16923 0.5526 NA 0.1392 False NA ,,, NA NA NA 2504 0.3916 NA NA NA NA 0 G ,, 661,3235 63,535,1350 127 132 131 393,, 0.1 0.1 7 dbSNP_98 131 1459,6803 133,1193,2805 no coding-synonymous,intron,intron NFE4,FBXL13 NM_001085386.1,NM_001111038.1,NM_145032.3 ,, 196,1728,4155 AA,AG,GG 17.6592,16.9661,17.4371 ,, 131/180,, 102616515 2120,10038 1948 4131 6079 SO:0001627 intron_variant BC031285 CCDS5726.1, CCDS47678.1, CCDS75649.1 7q22.1 2014-07-18 ENSG00000161040 ENSG00000161040 222235 F-boxes / Leucine-rich repeats 21658 protein-coding gene gene with protein product 609080 NA Standard NM_145032 NM_145032 NA Approved MGC21636, Fbl13 uc003vaq.2 Q8NEE6 OTTHUMG00000157224 ENST00000313221.4:c.496-7951C>T chr7.hg19:g.102616515G>A NA C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0 hg19 CCDS5726.1 0.02 6.425235 TGTxAGC COVERED NOVEL FBXL13-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000348001.1 4 16.8547 KEEP 0 0 0 56 1962 GG 1 1 0 - 11 60 393 0 0 27.034241 153 60 5734 268 ENST00000313221.4 0.067073 1 FBXL13 222235 __UNKNOWN__ __UNKNOWN__ 7 102696108 102696108 __UNKNOWN__ 5'UTR SNP A A G rs75711176 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:102696108A>G ENST00000313221.4 - 0 409 FBXL13_ENST00000455112.2_5'UTR|FBXL13_ENST00000379306.3_5'UTR|FBXL13_ENST00000379305.3_5'UTR|FBXL13_ENST00000471074.1_5'UTR|FBXL13_ENST00000379308.3_5'UTR|FBXL13_ENST00000393772.2_5'UTR|FBXL13_ENST00000456695.1_5'UTR NM_145032.3 NP_659469.3 Q8NEE6 FXL13_HUMAN F-box and leucine-rich repeat protein 13 NA NA NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1) 27 GATTCTGAAGACCACTTTTGA 0.333 NA A||| 533 0.10643 0.0182 0.0259 5008 , , NA 17847 0.2847 NA 0.0437 False NA ,,, NA NA NA 2504 0.1636 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant BC031285 CCDS5726.1, CCDS47678.1, CCDS75649.1 7q22.1 2014-07-18 ENSG00000161040 ENSG00000161040 222235 F-boxes / Leucine-rich repeats 21658 protein-coding gene gene with protein product 609080 NA Standard NM_145032 NM_145032 NA Approved MGC21636, Fbl13 uc003vaq.2 Q8NEE6 OTTHUMG00000157224 ENST00000313221.4:c.-18T>C chr7.hg19:g.102696108A>G NA C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0 hg19 CCDS5726.1 0.02 14.555474 AAGxCCA COVERED NOVEL FBXL13-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000348001.1 2 11.736049 KEEP 0 0 0 39 1262 AA 1 1 0 - 11 60 395 0 0 23.239717 361 60 12984 458 ENST00000313221.4 0.02957 1 ARMC10 83787 __UNKNOWN__ __UNKNOWN__ 7 102715804 102715804 __UNKNOWN__ Missense_Mutation SNP C C T rs7798381 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:102715804C>T ENST00000441711.2 + 1 477 c.85C>T c.(85-87)Cgg>Tgg p.R29W ARMC10_ENST00000323716.3_Missense_Mutation_p.R29W|ARMC10_ENST00000541300.1_Missense_Mutation_p.R29W|ARMC10_ENST00000428183.2_Missense_Mutation_p.R29W|ARMC10_ENST00000425331.1_Missense_Mutation_p.R29W|ARMC10_ENST00000454559.1_Missense_Mutation_p.R29W NM_001161009.2 NP_001154481.1 Q8N2F6 ARM10_HUMAN armadillo repeat containing 10 29 NA regulation of growth (GO:0040008) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739) NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 11 CAGGCTGACCCGGGGTCGGCG 0.771 NA C||| 368 0.0734824 0.0159 0.0245 5008 , , NA 7637 0.131 NA 0.0427 False NA ,,, NA NA NA 2504 0.1585 NA NA NA NA 0 3 5 4 NA NA 7 NA 102715804 1373 3170 4543 SO:0001583 missense AY150853 CCDS5728.1, CCDS55145.1, CCDS55146.1, CCDS55147.1, CCDS55148.1, CCDS55149.1 7q22.1 2013-02-14 ENSG00000170632 ENSG00000170632 83787 Armadillo repeat containing 21706 protein-coding gene gene with protein product specific Splicing Variant involved in Hepatocarcinogenesis 611864 NA 12839973 Standard NM_031905 NM_031905 NA Approved MGC3195, SVH uc003vaw.2 Q8N2F6 OTTHUMG00000157201 ENST00000441711.2:c.85C>T chr7.hg19:g.102715804C>T ENSP00000413619:p.Arg29Trp NA A8K703|B4DWJ8|F5GX65|Q75K91|Q75MG6|Q75ML8|Q8IZC1|Q8IZC2|Q8IZC3|Q9BTM6 hg19 CCDS55146.1 0.02 4.393563 ACCxGGG COVERED 146 0.06684981684981685 9 0.018292682926829267 10 0.027624309392265192 91 0.1590909090909091 36 0.047493403693931395 C 11.96 1.795812 0.31777 . . ENSG00000170632 ENST00000323716;ENST00000428183;ENST00000441711;ENST00000454559;ENST00000425331;ENST00000541300;ENST00000434153 T;T;T;T;T;T 0.49139 0.79;1.39;0.81;1.39;0.83;0.84 4.56 2.58 0.30949 . 0.630262 0.15842 N 0.241977 T 0.00300 0.0009 L 0.46614 1.455 0.38143 P 0.06149099999999996 D;D;P;P;D;D 0.89917 0.999;1.0;0.95;0.956;0.994;0.996 P;D;B;B;P;P 0.79108 0.857;0.992;0.261;0.343;0.721;0.53 T 0.07809 -1.0753 9 0.33141 T 0.24 -0.5968 5.6462 0.17590 0.0:0.7472:0.0:0.2528 rs7798381 29;29;29;29;29;29 B4DWJ8;F5GX65;Q8N2F6-4;Q8N2F6-3;Q8N2F6-2;Q8N2F6 .;.;.;.;.;ARM10_HUMAN W 29 ENSP00000319412:R29W;ENSP00000413619:R29W;ENSP00000405612:R29W;ENSP00000397969:R29W;ENSP00000440463:R29W;ENSP00000398201:R29W ENSP00000305395:R29W R + 1 2 ARMC10 102503040 0.297000 0.24408 0.960000 0.40013 0.063000 0.16089 0.408000 0.21065 1.145000 0.42336 0.491000 0.48974 CGG NOVEL ARMC10-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347884.1 1 23.206009 KEEP 0 1 22 85 2898 CC 1 0.999995 0 + 7 60 256 0 0 17.573173 105 60 3594 251 ENST00000441711.2 0.0625 0.999995 ARMC10 83787 __UNKNOWN__ __UNKNOWN__ 7 102739179 102739179 __UNKNOWN__ 3'UTR SNP A A G rs34745227 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:102739179A>G ENST00000441711.2 + 0 1498 ARMC10_ENST00000323716.3_3'UTR|ARMC10_ENST00000541300.1_3'UTR|ARMC10_ENST00000428183.2_3'UTR|ARMC10_ENST00000425331.1_3'UTR|ARMC10_ENST00000454559.1_3'UTR NM_001161009.2 NP_001154481.1 Q8N2F6 ARM10_HUMAN armadillo repeat containing 10 NA NA regulation of growth (GO:0040008) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739) NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 11 TGCCAAGTGAATATAAGAGCT 0.323 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY150853 CCDS5728.1, CCDS55145.1, CCDS55146.1, CCDS55147.1, CCDS55148.1, CCDS55149.1 7q22.1 2013-02-14 ENSG00000170632 ENSG00000170632 83787 Armadillo repeat containing 21706 protein-coding gene gene with protein product specific Splicing Variant involved in Hepatocarcinogenesis 611864 NA 12839973 Standard NM_031905 NM_031905 NA Approved MGC3195, SVH uc003vaw.2 Q8N2F6 OTTHUMG00000157201 ENST00000441711.2:c.*179A>G chr7.hg19:g.102739179A>G NA A8K703|B4DWJ8|F5GX65|Q75K91|Q75MG6|Q75ML8|Q8IZC1|Q8IZC2|Q8IZC3|Q9BTM6 hg19 CCDS55146.1 0.02 25.728821 TGAxTAT COVERED NOVEL ARMC10-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347884.1 3 9.264492 KEEP 24 4 126 75 2389 AA 1 1 0 + 56 47 2093 1 0 159.082139 460 60 16940 711 ENST00000441711.2 0.108527 1 NAPEPLD 222236 __UNKNOWN__ __UNKNOWN__ 7 102760511 102760511 __UNKNOWN__ Missense_Mutation SNP A A C rs12540583 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:102760511A>C ENST00000417955.1 - 3 608 c.454T>G c.(454-456)Tct>Gct p.S152A NAPEPLD_ENST00000465647.1_Missense_Mutation_p.S152A|NAPEPLD_ENST00000427257.1_Missense_Mutation_p.S152A|NAPEPLD_ENST00000341533.4_Missense_Mutation_p.S152A|NAPEPLD_ENST00000455523.2_Missense_Mutation_p.S225A Q6IQ20 NAPEP_HUMAN N-acyl phosphatidylethanolamine phospholipase D 152 NA S -> A (in dbSNP:rs12540583). phospholipid catabolic process (GO:0009395) extracellular vesicular exosome (GO:0070062)|photoreceptor outer segment membrane (GO:0042622) N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|zinc ion binding (GO:0008270) endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 GAAGCACGAGAGCTAAAGATG 0.502 NA A||| 841 0.167931 0.0946 0.1844 5008 , , NA 13891 0.2768 NA 0.0974 False NA ,,, NA NA NA 2504 0.2157 NA NA NA NA 0 A ALA/SER,ALA/SER 364,4042 185.7+/-212.7 12,340,1851 169 132 144 454,454 -4.7 0.1 7 dbSNP_120 144 890,7710 199.9+/-243.8 51,788,3461 yes missense,missense NAPEPLD NM_001122838.1,NM_198990.4 99,99 63,1128,5312 CC,CA,AA 10.3488,8.2615,9.6417 benign,benign 152/394,152/394 102760511 1254,11752 2203 4300 6503 SO:0001583 missense BC037350, AY357337 CCDS5729.1 7q22.1 2014-03-14 ENSG00000161048 ENSG00000161048 222236 3.1.4.54 21683 protein-coding gene gene with protein product chromosome 7 open reading frame 18, N-acyl-phosphatidylethanolamine-hydrolyzing phospholipase D 612334 NA 14634025, 15820312, 18067139 Standard NM_198990 NM_198990 NA Approved FMP30, C7orf18, NAPE-PLD uc003vbd.2 Q6IQ20 OTTHUMG00000157204 ENST00000417955.1:c.454T>G chr7.hg19:g.102760511A>C ENSP00000407112:p.Ser152Ala NA Q5CZ87|Q769K1 hg19 CCDS5729.1 0.02 12.555734 GAGxGCT COVERED 347 0.15888278388278387 60 0.12195121951219512 58 0.16022099447513813 159 0.27797202797202797 70 0.09234828496042216 A 13.41 2.228637 0.39399 0.082615 0.103488 ENSG00000161048 ENST00000341533;ENST00000417955;ENST00000465647;ENST00000427257;ENST00000455523 D;D;D;D;D 0.91792 -2.91;-2.91;-2.91;-2.91;-2.91 5.93 -4.69 0.03299 . 0.645957 0.17297 N 0.179417 T 0.00039 0.0001 N 0.25332 0.735 0.48762 P 2.9800000000002047E-4 B;B 0.06786 0.001;0.0 B;B 0.15052 0.012;0.002 T 0.16660 -1.0395 9 0.44086 T 0.13 -5.2249 2.2767 0.04104 0.1181:0.2271:0.3677:0.2871 rs12540583;rs12540583 225;152 B4E3B0;Q6IQ20 .;NAPEP_HUMAN A 152;152;152;152;225 ENSP00000340093:S152A;ENSP00000407112:S152A;ENSP00000419188:S152A;ENSP00000392775:S152A;ENSP00000414364:S225A ENSP00000340093:S152A S - 1 0 NAPEPLD 102547747 1.000000 0.71417 0.065000 0.19835 0.998000 0.95712 1.650000 0.37292 -0.455000 0.07054 0.482000 0.46254 TCT NOVEL NAPEPLD-002 KNOWN alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347904.1 0 20.463125 KEEP 0 0 0 68 2172 AA 1 1 0 - 10 60 341 0 0 19.858339 295 60 10722 437 ENST00000417955.1 0.032787 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 102937760 102937760 __UNKNOWN__ IGR SNP A A G rs17156122 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:102937760A>G NA NA DPY19L2P2 (16903 upstream) : PMPCB (108 downstream) NA NA NA GCTCAGCATCATGGTCGGGCC 0.532 NA OREG0018240 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) .||| 364 0.0726837 0.0023 0.0231 5008 , , NA 16468 0.1369 NA 0.0447 False NA ,,, NA NA NA 2504 0.1656 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.102937760A>G 1370 hg19 0.02 3.051945 ATCxTGG COVERED NOVEL 0 1 5.416602 KEEP 0 0 0 18 569 AA 0.999859 0.999859 0 6 60 191 0 0 11.218277 134 60 4839 162 0.042857 1 PMPCB 9512 __UNKNOWN__ __UNKNOWN__ 7 102950891 102950891 __UNKNOWN__ Missense_Mutation SNP G G A rs117074402 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:102950891G>A ENST00000249269.4 + 9 1161 c.1123G>A c.(1123-1125)Gca>Aca p.A375T PMPCB_ENST00000420236.2_Missense_Mutation_p.A270T|PMPCB_ENST00000428154.1_Missense_Mutation_p.A375T NM_004279.2 NP_004270.2 O75439 MPPB_HUMAN peptidase (mitochondrial processing) beta 375 NA cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626) mitochondrial inner membrane (GO:0005743) metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222) central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 ATCCACTGTTGCAGACATGCT 0.323 NA G||| 40 0.00798722 0.0 0.0 5008 , , NA 16042 0.0367 NA 0.0 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 95 90 92 NA NA 7 NA 102950891 2203 4300 6503 SO:0001583 missense AF054182 CCDS5730.1 7q22.1 2007-07-30 ENSG00000105819 ENSG00000105819 9512 9119 protein-coding gene gene with protein product 603131 NA 9653160 Standard NM_004279 XM_005250717 NA Approved MPPB, MPPP52 uc003vbl.3 O75439 OTTHUMG00000157205 ENST00000249269.4:c.1123G>A chr7.hg19:g.102950891G>A ENSP00000249269:p.Ala375Thr NA O60416|Q96FV4 hg19 CCDS5730.1 0.02 10.043894 GTTxCAG COVERED 23 0.010531135531135532 0 0.0 0 0.0 23 0.04020979020979021 0 0.0 G 15.43 2.830388 0.50845 . . ENSG00000105819 ENST00000249269;ENST00000428154;ENST00000420236 T;T;T 0.31510 1.49;1.49;1.49 5.71 5.71 0.89125 Peptidase M16, C-terminal (1);Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1); 0.406841 0.28577 N 0.014860 T 0.08088 0.0202 L 0.33245 0.995 0.29501 N 0.854919 B;B;B;B;B;B 0.30179 0.043;0.271;0.173;0.076;0.173;0.082 B;B;B;B;B;B 0.35073 0.195;0.158;0.102;0.063;0.102;0.098 T 0.06679 -1.0813 10 0.52906 T 0.07 . 16.3531 0.83224 0.0:0.1406:0.8594:0.0 . 270;270;375;366;375;375 E7ERZ4;B4DM90;A8K1E9;Q96CP5;O75439;G3V0E4 .;.;.;.;MPPB_HUMAN;. T 375;375;270 ENSP00000249269:A375T;ENSP00000390035:A375T;ENSP00000410393:A270T ENSP00000249269:A375T A + 1 0 PMPCB 102738127 0.610000 0.26983 0.980000 0.43619 0.732000 0.41865 1.599000 0.36751 2.704000 0.92352 0.585000 0.79938 GCA NOVEL PMPCB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347913.1 0 13.242898 KEEP 0 0 0 44 1567 GG 1 1 0 + 9 60 326 0 0 19.886161 253 60 9502 360 ENST00000249269.4 0.034351 1 RELN 5649 __UNKNOWN__ __UNKNOWN__ 7 103124207 103124207 __UNKNOWN__ Silent SNP T T C rs1062831 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:103124207T>C ENST00000428762.1 - 62 10233 c.10074A>G c.(10072-10074)gcA>gcG p.A3358A RELN_ENST00000473945.1_5'UTR|RELN_ENST00000424685.2_Silent_p.A3358A|RELN_ENST00000343529.5_Silent_p.A3358A|CTB-107G13.1_ENST00000422488.1_RNA NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 3358 NA associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517) cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578) lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326) NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) GCAGCAGCACTGCCTTGTCCA 0.517 NA t||| 1160 0.231629 0.3828 0.147 5008 , , NA 18742 0.2659 NA 0.0954 False NA ,,, NA NA NA 2504 0.1922 NA NA NA NSCLC(146;835 1944 15585 22231 52158) NA 0 T , 1490,2916 476.1+/-357.5 256,978,969 193 166 175 10074,10074 -11.5 0 7 dbSNP_86 175 783,7817 185.0+/-232.9 39,705,3556 no coding-synonymous,coding-synonymous RELN NM_005045.3,NM_173054.2 , 295,1683,4525 CC,CT,TT 9.1047,33.8175,17.4765 , 3358/3461,3358/3459 103124207 2273,10733 2203 4300 6503 SO:0001819 synonymous_variant CCDS34722.1, CCDS47680.1 7q22 2008-07-18 ENSG00000189056 ENSG00000189056 5649 9957 protein-coding gene gene with protein product 600514 NA 9049633 Standard NM_005045 NM_005045 NA Approved RL, PRO1598 uc010liz.3 P78509 OTTHUMG00000157247 ENST00000428762.1:c.10074A>G chr7.hg19:g.103124207T>C NA A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2 hg19 CCDS47680.1 0.02 7.379871 CACxGCC COVERED NOVEL RELN-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000348148.1 0 6.62036 KEEP 0 0 0 22 697 TT 0.999879 0.999879 0 - 9 60 326 0 0 21.637085 160 60 6019 245 ENST00000428762.1 0.053254 1 RELN 5649 __UNKNOWN__ __UNKNOWN__ 7 103151436 103151436 __UNKNOWN__ Silent SNP T T C rs3808039 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:103151436T>C ENST00000428762.1 - 51 8295 c.8136A>G c.(8134-8136)ctA>ctG p.L2712L RELN_ENST00000424685.2_Silent_p.L2712L|RELN_ENST00000343529.5_Silent_p.L2712L|CTB-107G13.1_ENST00000422488.1_RNA NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 2712 NA associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517) cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578) lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326) NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CATCATGGAATAGCCAGTGCT 0.378 NA T||| 391 0.0780751 0.0688 0.0202 5008 , , NA 16069 0.1716 NA 0.0338 False NA ,,, NA NA NA 2504 0.0808 NA NA NA NSCLC(146;835 1944 15585 22231 52158) NA 0 T , 312,4094 167.6+/-198.6 5,302,1896 102 85 91 8136,8136 -7.1 0.8 7 dbSNP_107 91 307,8293 111.4+/-171.7 10,287,4003 no coding-synonymous,coding-synonymous RELN NM_005045.3,NM_173054.2 , 15,589,5899 CC,CT,TT 3.5698,7.0813,4.7593 , 2712/3461,2712/3459 103151436 619,12387 2203 4300 6503 SO:0001819 synonymous_variant CCDS34722.1, CCDS47680.1 7q22 2008-07-18 ENSG00000189056 ENSG00000189056 5649 9957 protein-coding gene gene with protein product 600514 NA 9049633 Standard NM_005045 NM_005045 NA Approved RL, PRO1598 uc010liz.3 P78509 OTTHUMG00000157247 ENST00000428762.1:c.8136A>G chr7.hg19:g.103151436T>C NA A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2 hg19 CCDS47680.1 0.02 9.817801 GAAxAGC COVERED NOVEL RELN-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000348148.1 0 6.921168 KEEP 0 0 0 23 729 TT 0.999892 0.999892 0 - 15 60 587 0 0 41.409969 228 60 8160 321 ENST00000428762.1 0.061728 1 RELN 5649 __UNKNOWN__ __UNKNOWN__ 7 103179595 103179595 __UNKNOWN__ Silent SNP A A G rs362746 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:103179595A>G ENST00000428762.1 - 45 7269 c.7110T>C c.(7108-7110)gtT>gtC p.V2370V RELN_ENST00000424685.2_Silent_p.V2370V|RELN_ENST00000343529.5_Silent_p.V2370V NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 2370 NA associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517) cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578) lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326) NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CATTCACGGCAACGTCTGTGC 0.537 NA A||| 311 0.0621006 0.0023 0.0029 5008 , , NA 17710 0.1974 NA 0.0209 False NA ,,, NA NA NA 2504 0.0879 NA NA NA NSCLC(146;835 1944 15585 22231 52158) NA 0 A , 27,4379 34.3+/-65.2 0,27,2176 114 95 101 7110,7110 -10.7 0.2 7 dbSNP_79 101 221,8379 92.6+/-154.6 5,211,4084 no coding-synonymous,coding-synonymous RELN NM_005045.3,NM_173054.2 , 5,238,6260 GG,GA,AA 2.5698,0.6128,1.9068 , 2370/3461,2370/3459 103179595 248,12758 2203 4300 6503 SO:0001819 synonymous_variant CCDS34722.1, CCDS47680.1 7q22 2008-07-18 ENSG00000189056 ENSG00000189056 5649 9957 protein-coding gene gene with protein product 600514 NA 9049633 Standard NM_005045 NM_005045 NA Approved RL, PRO1598 uc010liz.3 P78509 OTTHUMG00000157247 ENST00000428762.1:c.7110T>C chr7.hg19:g.103179595A>G NA A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2 hg19 CCDS47680.1 0.02 6.181937 GGCxACG COVERED NOVEL RELN-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000348148.1 1 11.132163 KEEP 0 0 0 37 1140 AA 1 1 0 - 9 60 313 0 0 20.339221 160 60 5727 242 ENST00000428762.1 0.053254 1 KMT2E 55904 __UNKNOWN__ __UNKNOWN__ 7 104681214 104681214 __UNKNOWN__ Intron SNP G G A rs10264273 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:104681214G>A ENST00000311117.3 + 3 431 KMT2E_ENST00000476671.1_Intron|KMT2E_ENST00000480368.1_Intron|KMT2E_ENST00000334914.7_Intron|KMT2E_ENST00000334877.4_Intron|KMT2E_ENST00000257745.4_Intron NM_182931.2 NP_891847.1 Q8IZD2 KMT2E_HUMAN lysine (K)-specific methyltransferase 2E NA NA cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886) enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270) NA AATAAAGAATGTTTTCTTCAT 0.284 NA G||| 1371 0.273762 0.2557 0.2176 5008 , , NA 17026 0.5615 NA 0.1302 False NA ,,, NA NA NA 2504 0.1892 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF067804 CCDS34723.1 7q22.1 2013-05-09 2013-05-09 2013-05-09 ENSG00000005483 ENSG00000005483 55904 Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type 18541 protein-coding gene gene with protein product 608444 myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila) MLL5 NA 9218106, 7672722 Standard XM_005250493 NA Approved HDCMC04P Q8IZD2 OTTHUMG00000157403 ENST00000311117.3:c.-114-72G>A chr7.hg19:g.104681214G>A NA B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7 hg19 CCDS34723.1 0.02 9.506755 AATxTTT COVERED NOVEL KMT2E-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000348697.1 2 9.63058 KEEP 0 0 0 32 1091 GG 0.999997 0.999997 0 + 10 60 336 0 0 20.066715 245 60 9294 289 ENST00000311117.3 0.039216 1 KMT2E 55904 __UNKNOWN__ __UNKNOWN__ 7 104707360 104707360 __UNKNOWN__ Intron SNP C C T rs12705297 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:104707360C>T ENST00000311117.3 + 6 1042 KMT2E_ENST00000476671.1_Intron|KMT2E_ENST00000334914.7_Intron|KMT2E_ENST00000334877.4_Intron|KMT2E_ENST00000257745.4_Intron NM_182931.2 NP_891847.1 Q8IZD2 KMT2E_HUMAN lysine (K)-specific methyltransferase 2E NA NA cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886) enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270) NA GAATCACAgccgggcatggtg 0.418 NA C||| 1566 0.3127 0.3971 0.2305 5008 , , NA 13929 0.5595 NA 0.1302 False NA ,,, NA NA NA 2504 0.1902 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF067804 CCDS34723.1 7q22.1 2013-05-09 2013-05-09 2013-05-09 ENSG00000005483 ENSG00000005483 55904 Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type 18541 protein-coding gene gene with protein product 608444 myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila) MLL5 NA 9218106, 7672722 Standard XM_005250493 NA Approved HDCMC04P Q8IZD2 OTTHUMG00000157403 ENST00000311117.3:c.497+106C>T chr7.hg19:g.104707360C>T NA B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7 hg19 CCDS34723.1 0.02 2.114286 AGCxGGG COVERED NOVEL KMT2E-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000348697.1 1 3.008461 KEEP 0 0 0 10 319 CC 0.992708 0.966863 0 + 4 60 146 0 0 10.317666 50 60 1632 65 ENST00000311117.3 0.074074 0.973965 SRPK2 6733 __UNKNOWN__ __UNKNOWN__ 7 104943125 104943125 __UNKNOWN__ Intron SNP T T A rs11761429 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:104943125T>A ENST00000393651.3 - 2 159 NM_182692.1 NP_872634.1 SRSF protein kinase 2 NA NA NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 35 ctatttatatttttCTCTTGA 0.294 NA T||| 657 0.13119 0.0098 0.1585 5008 , , NA 14164 0.2619 NA 0.1769 False NA ,,, NA NA NA 2504 0.0941 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U88666 CCDS5735.1, CCDS34724.1 7q22-q31.1 2010-06-23 2010-06-23 ENSG00000135250 ENSG00000135250 6733 11306 protein-coding gene gene with protein product SR protein kinase 2, serine/arginine-rich splicing factor kinase 2 602980 SFRS protein kinase 2 NA 8208298, 9472028 Standard NM_182691 NM_182692 NA Approved SFRSK2 uc003vcv.4 P78362 OTTHUMG00000157405 ENST00000393651.3:c.71+85969A>T chr7.hg19:g.104943125T>A NA hg19 CCDS34724.1 0.02 3.906205 TATxTTT COVERED NOVEL SRPK2-008 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000348723.1 2 9.026379 KEEP 0 0 0 30 910 TT 0.999997 0.999996 0 - 5 60 174 0 0 10.729858 117 60 4152 167 ENST00000393651.3 0.040984 0.999999 ATXN7L1 222255 __UNKNOWN__ __UNKNOWN__ 7 105254085 105254085 __UNKNOWN__ Intron SNP T T C rs57819574 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:105254085T>C ENST00000419735.3 - 10 2518 ATXN7L1_ENST00000388807.4_3'UTR|ATXN7L1_ENST00000477775.1_Intron NM_020725.1 NP_065776.1 Q9ULK2 AT7L1_HUMAN ataxin 7-like 1 NA NA endometrium(1)|large_intestine(4)|lung(5) 10 agtgaggtaataaccgtaaag 0.473 NA T||| 1506 0.300719 0.3011 0.3429 5008 , , NA 19652 0.2401 NA 0.332 False NA ,,, NA NA NA 2504 0.3006 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB033044 CCDS34727.1, CCDS47682.1, CCDS47683.1 7q22.1 2007-11-13 ENSG00000146776 ENSG00000146776 222255 22210 protein-coding gene gene with protein product ataxin 7-like 4 ATXN7L4 NA 15115762 Standard NM_152749 NA Approved KIAA1218, MGC33190 uc003vde.2 Q9ULK2 OTTHUMG00000157521 ENST00000419735.3:c.2472+223A>G chr7.hg19:g.105254085T>C NA A4D0Q2|B4DTS1|Q8N2T0 hg19 CCDS47682.1 0.02 6.860808 TAAxAAC COVERED NOVEL ATXN7L1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000349037.2 2 7.820543 KEEP 0 0 0 26 759 TT 0.999957 0.999957 0 - 13 60 490 0 0 34.525769 180 60 6455 238 ENST00000419735.3 0.067358 1 CDHR3 222256 __UNKNOWN__ __UNKNOWN__ 7 105671267 105671267 __UNKNOWN__ Silent SNP T T C rs10270308 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:105671267T>C ENST00000317716.9 + 18 2414 c.2334T>C c.(2332-2334)gaT>gaC p.D778D CDHR3_ENST00000470188.1_3'UTR|CDHR3_ENST00000478080.1_Silent_p.D690D|CDHR3_ENST00000343407.5_3'UTR|CDHR3_ENST00000542731.1_Silent_p.D778D NM_152750.4 NP_689963.2 Q6ZTQ4 CDHR3_HUMAN cadherin-related family member 3 778 NA homophilic cell adhesion (GO:0007156) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1) 23 CTATCTTTGATGGAGAAGCCA 0.418 NA T||| 1065 0.21266 0.382 0.1729 5008 , , NA 23524 0.3621 NA 0.0129 False NA ,,, NA NA NA 2504 0.0634 NA NA NA NA 0 T 1187,2657 184,819,919 122 118 120 http://www.ncbi.nlm.nih.gov/pubmed?term 2334 1.5 1 7 dbSNP_119 120 44,8230 0,44,4093 yes coding-synonymous CDHR3 NM_152750.4 184,863,5012 CC,CT,TT http://www.ncbi.nlm.nih.gov/pubmed?term 0.5318,30.8793,10.1584 778/886 105671267 1231,10887 1922 4137 6059 SO:0001819 synonymous_variant AK126338 CCDS47684.1, CCDS75651.1 7q22.2 2011-07-01 ENSG00000128536 ENSG00000128536 222256 Cadherins / Cadherin-related 26308 protein-coding gene gene with protein product 615610 NA Standard NM_152750 NM_152750 NA Approved FLJ44366, FLJ23834, CDH28 uc003vdl.4 Q6ZTQ4 OTTHUMG00000157520 ENST00000317716.9:c.2334T>C chr7.hg19:g.105671267T>C NA Q8TCI7 hg19 CCDS47684.1 0.02 20.123387 TGAxGGA COVERED NOVEL CDHR3-004 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000349025.2 3 24.071662 KEEP 0 0 0 80 2486 TT 1 1 0 + 16 60 542 2 0 30.738168 527 60 19046 739 ENST00000317716.9 0.029466 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 105767172 105767172 __UNKNOWN__ IGR SNP T T C rs10274327 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:105767172T>C NA NA SYPL1 (14150 upstream) : RNU6-392P (81440 downstream) NA NA NA ACAATCCTGATGTATAATTAG 0.333 NA t||| 1940 0.38738 0.736 0.3991 5008 , , NA 19553 0.2669 NA 0.167 False NA ,,, NA NA NA 2504 0.2587 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.105767172T>C NA hg19 0.02 5.317753 TGAxGTA COVERED NOVEL 0 2 14.444784 KEEP 0 0 0 48 1547 TT 1 1 0 6 60 204 0 0 11.733401 182 60 6722 284 0.031915 1 NAMPT 10135 __UNKNOWN__ __UNKNOWN__ 7 105901930 105901930 __UNKNOWN__ Intron SNP C C T rs41524145 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:105901930C>T ENST00000222553.3 - 8 1397 NM_005746.2 NP_005737.1 P43490 NAMPT_HUMAN nicotinamide phosphoribosyltransferase NA NA cell-cell signaling (GO:0007267)|circadian regulation of gene expression (GO:0032922)|NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|nicotinamide metabolic process (GO:0006769)|positive regulation of cell proliferation (GO:0008284)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767) cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) cytokine activity (GO:0005125)|nicotinamide phosphoribosyltransferase activity (GO:0047280)|nicotinate-nucleotide diphosphorylase (carboxylating) activity (GO:0004514) endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 14 AACATAAACACTTACAAAGAC 0.269 NA C||| 15 0.00299521 0.0 0.0 5008 , , NA 17301 0.0139 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U02020 CCDS5737.1 7q22.3 2012-10-02 2008-03-27 2008-03-27 ENSG00000105835 ENSG00000105835 10135 30092 protein-coding gene gene with protein product visfatin 608764 pre-B-cell colony enhancing factor 1 PBEF1 NA 8289818 Standard NM_182790 NM_005746 NA Approved PBEF uc003vdq.3 P43490 OTTHUMG00000140388 ENST00000222553.3:c.1089+103G>A chr7.hg19:g.105901930C>T NA A4D0Q9|A4D0R0|Q3KQV0|Q8WW95 hg19 CCDS5737.1 0.02 6.070044 ACAxTTA COVERED NOVEL NAMPT-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000277146.1 2 14.44351 KEEP 0 0 0 48 1706 CC 1 1 0 - 11 60 376 0 0 25.508745 148 60 5517 251 ENST00000222553.3 0.069182 1 NAMPT 10135 __UNKNOWN__ __UNKNOWN__ 7 105925381 105925381 __UNKNOWN__ 5'UTR SNP C C A rs375661670 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:105925381C>A ENST00000222553.3 - 0 257 NM_005746.2 NP_005737.1 P43490 NAMPT_HUMAN nicotinamide phosphoribosyltransferase NA NA cell-cell signaling (GO:0007267)|circadian regulation of gene expression (GO:0032922)|NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|nicotinamide metabolic process (GO:0006769)|positive regulation of cell proliferation (GO:0008284)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767) cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) cytokine activity (GO:0005125)|nicotinamide phosphoribosyltransferase activity (GO:0047280)|nicotinate-nucleotide diphosphorylase (carboxylating) activity (GO:0004514) endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 14 GGCGCGGCTGCGAGGAAGGAG 0.667 NA C||| 10 0.00199681 0.0 0.0 5008 , , NA 7478 0.0089 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 C 4,4340 0,4,2168 10 10 10 1.4 0.1 7 10 0,8502 0,0,4251 no utr-5 NAMPT NM_005746.2 0,4,6419 AA,AC,CC 0.0,0.0921,0.0311 105925381 4,12842 2172 4251 6423 SO:0001623 5_prime_UTR_variant U02020 CCDS5737.1 7q22.3 2012-10-02 2008-03-27 2008-03-27 ENSG00000105835 ENSG00000105835 10135 30092 protein-coding gene gene with protein product visfatin 608764 pre-B-cell colony enhancing factor 1 PBEF1 NA 8289818 Standard NM_182790 NM_005746 NA Approved PBEF uc003vdq.3 P43490 OTTHUMG00000140388 ENST00000222553.3:c.-51G>T chr7.hg19:g.105925381C>A NA A4D0Q9|A4D0R0|Q3KQV0|Q8WW95 hg19 CCDS5737.1 0.02 4.524432 CTGxGAG COVERED NOVEL NAMPT-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000277146.1 1 56.27156 KEEP 0 0 0 187 6283 CC 1 0.999999 0 - 6 60 225 0 0 15.024969 114 60 3896 428 ENST00000222553.3 0.05 0.999999 PIK3CG 5294 __UNKNOWN__ __UNKNOWN__ 7 106546657 106546657 __UNKNOWN__ 3'UTR SNP G G A rs12667819 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:106546657G>A ENST00000359195.3 + 0 4444 PIK3CG_ENST00000496166.1_3'UTR NM_001282427.1|NM_002649.2 NP_001269356.1|NP_002640.2 P48736 PK3CG_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma NA NA adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098) 1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886) 1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674) breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 CATCAATTGCGATGCTCCCAC 0.388 NA G||| 2150 0.429313 0.382 0.4222 5008 , , NA 17928 0.4722 NA 0.4463 False NA ,,, NA NA NA 2504 0.4366 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS5739.1 7q22 2012-07-13 2012-07-13 ENSG00000105851 ENSG00000105851 5294 2.7.1.153 8978 protein-coding gene gene with protein product 601232 phosphoinositide-3-kinase, catalytic, gamma polypeptide NA Standard XM_005250443 NA Approved uc003vdw.3 P48736 OTTHUMG00000157641 ENST00000359195.3:c.*825G>A chr7.hg19:g.106546657G>A NA A4D0Q6|Q8IV23|Q9BZC8 hg19 CCDS5739.1 0.02 4.429282 TGCxATG COVERED NOVEL PIK3CG-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000349294.1 1 10.232465 KEEP 0 0 0 34 1158 GG 0.999998 0.999998 0 + 12 60 439 0 0 31.76772 130 60 4721 232 ENST00000359195.3 0.084507 1 PRKAR2B 5577 __UNKNOWN__ __UNKNOWN__ 7 106799997 106799997 __UNKNOWN__ Silent SNP G G A rs257376 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:106799997G>A ENST00000265717.4 + 11 1486 c.1227G>A c.(1225-1227)acG>acA p.T409T NM_002736.2 NP_002727.2 P31323 KAP3_HUMAN protein kinase, cAMP-dependent, regulatory, type II, beta 409 NA activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fatty acid metabolic process (GO:0006631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833) cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886) cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625) breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1) 14 TGTTTGGAACGAACATGGATA 0.418 NA A||| 2352 0.469649 0.5083 0.4597 5008 , , NA 16877 0.4514 NA 0.5408 False NA ,,, NA NA NA 2504 0.3701 NA NA NA NA 0 A 2197,2209 590.7+/-387.4 544,1109,550 146 127 133 1227 -0.9 1 7 dbSNP_79 133 4627,3973 553.1+/-386.2 1253,2121,926 yes coding-synonymous PRKAR2B NM_002736.2 1797,3230,1476 AA,AG,GG 46.1977,49.8638,47.5319 409/419 106799997 6824,6182 2203 4300 6503 SO:0001819 synonymous_variant CCDS5740.1 7q22.3 2010-04-22 ENSG00000005249 ENSG00000005249 5577 2.7.11.1 9392 protein-coding gene gene with protein product 176912 PRKAR2 NA 1358799 Standard NM_002736 NA Approved uc003vdx.3 P31323 OTTHUMG00000137418 ENST00000265717.4:c.1227G>A chr7.hg19:g.106799997G>A NA A4D0R9 hg19 CCDS5740.1 0.02 36.068065 AACxAAC COVERED NOVEL PRKAR2B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000268386.1 7 36.113828 KEEP 0 0 0 120 4050 GG 1 1 0 + 40 60 1490 0 0 98.612845 784 60 27864 1119 ENST00000265717.4 0.048544 1 COG5 10466 __UNKNOWN__ __UNKNOWN__ 7 106848955 106848955 __UNKNOWN__ Intron SNP G G T rs2158347 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:106848955G>T ENST00000297135.3 - 21 2993 COG5_ENST00000393603.2_3'UTR|COG5_ENST00000347053.3_Intron NM_006348.3 NP_006339.3 Q9UP83 COG5_HUMAN component of oligomeric golgi complex 5 NA NA intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031) Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020) breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1) 40 TTTTTAAGACGACTGAGTGTG 0.413 NA T||| 3124 0.623802 0.9614 0.4755 5008 , , NA 20219 0.5903 NA 0.5258 False NA ,,, NA NA NA 2504 0.408 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF058718 CCDS5742.1, CCDS5743.1, CCDS55152.1 7q31 2010-06-24 2001-12-07 2002-05-10 ENSG00000164597 ENSG00000164597 10466 Components of oligomeric golgi complex 14857 protein-coding gene gene with protein product 606821 golgi transport complex 1 (90 kDa subunit) GOLTC1 NA 9792665, 11980916 Standard NM_006348 NA Approved GTC90 uc003vec.2 Q9UP83 OTTHUMG00000023895 ENST00000297135.3:c.2468+2015C>A chr7.hg19:g.106848955G>T NA A4D0R6|A4D0R7|O14555|O95008|Q6NUL5 hg19 CCDS5742.1 0.02 8.502534 GACxACT COVERED NOVEL COG5-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000349394.1 1 22.570384 KEEP 0 0 0 75 2562 GG 1 1 0 - 10 60 367 0 0 23.335588 235 60 8452 403 ENST00000297135.3 0.040816 1 COG5 10466 __UNKNOWN__ __UNKNOWN__ 7 106965009 106965009 __UNKNOWN__ Intron SNP A A G rs62482495 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:106965009A>G ENST00000297135.3 - 11 1644 COG5_ENST00000393603.2_Intron|COG5_ENST00000347053.3_Intron NM_006348.3 NP_006339.3 Q9UP83 COG5_HUMAN component of oligomeric golgi complex 5 NA NA intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031) Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020) breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1) 40 aaaaaaatGCATTTATTTTAA 0.249 NA A||| 1015 0.202676 0.0772 0.2622 5008 , , NA 12204 0.3105 NA 0.2734 False NA ,,, NA NA NA 2504 0.1462 NA NA NA NA 0 A ,, 394,3870 20,354,1758 13 16 15 ,, 0.5 0 7 dbSNP_129 15 2030,6466 243,1544,2461 no intron,intron,intron COG5 NM_001161520.1,NM_006348.3,NM_181733.2 ,, 263,1898,4219 GG,GA,AA 23.8936,9.2402,18.9969 ,, ,, 106965009 2424,10336 2132 4248 6380 SO:0001627 intron_variant AF058718 CCDS5742.1, CCDS5743.1, CCDS55152.1 7q31 2010-06-24 2001-12-07 2002-05-10 ENSG00000164597 ENSG00000164597 10466 Components of oligomeric golgi complex 14857 protein-coding gene gene with protein product 606821 golgi transport complex 1 (90 kDa subunit) GOLTC1 NA 9792665, 11980916 Standard NM_006348 NA Approved GTC90 uc003vec.2 Q9UP83 OTTHUMG00000023895 ENST00000297135.3:c.1120-43T>C chr7.hg19:g.106965009A>G NA A4D0R6|A4D0R7|O14555|O95008|Q6NUL5 hg19 CCDS5742.1 0.02 2.140701 TGCxTTT COVERED NOVEL COG5-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000349394.1 0 8.123223 KEEP 0 0 0 27 814 AA 0.999988 0.963762 0 - 5 60 185 0 0 13.783169 46 60 1671 92 ENST00000297135.3 0.098039 0.963774 COG5 10466 __UNKNOWN__ __UNKNOWN__ 7 106965039 106965039 __UNKNOWN__ Intron SNP C C T rs6466164 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:106965039C>T ENST00000297135.3 - 11 1644 COG5_ENST00000393603.2_Intron|COG5_ENST00000347053.3_Intron NM_006348.3 NP_006339.3 Q9UP83 COG5_HUMAN component of oligomeric golgi complex 5 NA NA intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031) Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020) breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1) 40 ATGGGTAACACGTAACCTTGA 0.224 NA T||| 2934 0.585863 0.9024 0.4813 5008 , , NA 13068 0.4623 NA 0.5378 False NA ,,, NA NA NA 2504 0.409 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF058718 CCDS5742.1, CCDS5743.1, CCDS55152.1 7q31 2010-06-24 2001-12-07 2002-05-10 ENSG00000164597 ENSG00000164597 10466 Components of oligomeric golgi complex 14857 protein-coding gene gene with protein product 606821 golgi transport complex 1 (90 kDa subunit) GOLTC1 NA 9792665, 11980916 Standard NM_006348 NA Approved GTC90 uc003vec.2 Q9UP83 OTTHUMG00000023895 ENST00000297135.3:c.1120-73G>A chr7.hg19:g.106965039C>T NA A4D0R6|A4D0R7|O14555|O95008|Q6NUL5 hg19 CCDS5742.1 0.02 -0.324464 ACAxGTA COVERED NOVEL COG5-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000349394.1 0 4.814722 KEEP 0 0 0 16 513 CC 0.997832 0.833904 0 - 3 60 110 0 0 7.911065 34 60 1075 55 ENST00000297135.3 0.081081 0.835716 COG5 10466 __UNKNOWN__ __UNKNOWN__ 7 107002806 107002806 __UNKNOWN__ Missense_Mutation SNP A A G rs2269970 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:107002806A>G ENST00000297135.3 - 9 1512 c.988T>C c.(988-990)Ttc>Ctc p.F330L COG5_ENST00000393603.2_Missense_Mutation_p.F330L|COG5_ENST00000347053.3_Missense_Mutation_p.F330L NM_006348.3 NP_006339.3 Q9UP83 COG5_HUMAN component of oligomeric golgi complex 5 330 NA F -> L (in dbSNP:rs2269970). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9792665}. intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031) Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020) p.F330L(1) breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1) 40 TTGGTCCAGAATGAGGCACGC 0.393 NA G||| 3247 0.648363 0.9803 0.5058 5008 , , NA 16792 0.6429 NA 0.5417 False NA ,,, NA NA NA 2504 0.4162 NA NA NA NA 1 Substitution - Missense(1) stomach(1) G LEU/PHE,LEU/PHE,LEU/PHE 3973,433 211.8+/-231.9 1784,405,14 83 82 82 988,988,988 4.8 0.7 7 dbSNP_100 82 4542,4058 559.6+/-387.4 1211,2120,969 yes missense,missense,missense COG5 NM_001161520.1,NM_006348.3,NM_181733.2 22,22,22 2995,2525,983 GG,GA,AA 47.186,9.8275,34.5302 benign,benign,benign 330/824,330/861,330/840 107002806 8515,4491 2203 4300 6503 SO:0001583 missense AF058718 CCDS5742.1, CCDS5743.1, CCDS55152.1 7q31 2010-06-24 2001-12-07 2002-05-10 ENSG00000164597 ENSG00000164597 10466 Components of oligomeric golgi complex 14857 protein-coding gene gene with protein product 606821 golgi transport complex 1 (90 kDa subunit) GOLTC1 NA 9792665, 11980916 Standard NM_006348 NA Approved GTC90 uc003vec.2 Q9UP83 OTTHUMG00000023895 ENST00000297135.3:c.988T>C chr7.hg19:g.107002806A>G ENSP00000297135:p.Phe330Leu NA A4D0R6|A4D0R7|O14555|O95008|Q6NUL5 hg19 CCDS5742.1 0.02 6.901157 AGAxTGA COVERED 1465 0.6707875457875457 478 0.9715447154471545 195 0.5386740331491713 370 0.6468531468531469 422 0.5567282321899736 G 7.813 0.716216 0.15306 0.901725 0.52814 ENSG00000164597 ENST00000347053;ENST00000297135;ENST00000393603 T;T;T 0.27402 1.67;1.67;1.67 5.69 4.8 0.61643 . 0.000000 0.85682 N 0.000000 T 0.00012 0.0000 N 0.00013 -2.945 0.43471 P 0.0043159999999999865 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.40869 -0.9540 9 0.02654 T 1 -5.2259 13.0763 0.59089 0.1317:0.0:0.8683:0.0 rs2269970;rs10377771;rs17351107;rs52812313;rs59416115;rs2269970 330;330 Q9UP83;Q9UP83-2 COG5_HUMAN;. L 330 ENSP00000334703:F330L;ENSP00000297135:F330L;ENSP00000377228:F330L ENSP00000297135:F330L F - 1 0 COG5 106790042 1.000000 0.71417 0.729000 0.30791 0.445000 0.32107 6.030000 0.70903 0.865000 0.35603 -0.119000 0.15052 TTC NOVEL COG5-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000349394.1 0 10.532301 KEEP 0 0 0 35 1132 AA 0.999999 0.999999 0 - 10 60 368 0 0 24.855679 168 60 6209 277 ENST00000297135.3 0.05618 1 DUS4L 11062 __UNKNOWN__ __UNKNOWN__ 7 107218547 107218547 __UNKNOWN__ 3'UTR SNP A A C rs62483727 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:107218547A>C ENST00000265720.3 + 0 1858 NM_001270419.1|NM_181581.2 NP_001257348.1|NP_853559.1 O95620 DUS4L_HUMAN dihydrouridine synthase 4-like (S. cerevisiae) NA NA flavin adenine dinucleotide binding (GO:0050660)|tRNA dihydrouridine synthase activity (GO:0017150) breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1) 8 ACATTTCAAAACTTCTAGGTC 0.284 NA A||| 765 0.152756 0.0076 0.1988 5008 , , NA 14900 0.3165 NA 0.17 False NA ,,, NA NA NA 2504 0.1299 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U62767 CCDS5745.1 7q22-q31 2007-12-04 ENSG00000105865 ENSG00000105865 11062 21517 protein-coding gene gene with protein product protein similar to E.coli yhdg and R. capsulatus nifR3 NA Standard NM_181581 NM_181581 NA Approved PP35, DUS4 uc031syv.1 O95620 OTTHUMG00000154763 ENST00000265720.3:c.*542A>C chr7.hg19:g.107218547A>C NA B4DLX0|Q2NKK1 hg19 CCDS5745.1 0.02 4.618309 AAAxCTT COVERED NOVEL DUS4L-007 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000336967.2 2 11.734189 KEEP 0 0 0 39 1214 AA 1 1 0 + 11 60 361 0 0 25.17941 121 60 4252 194 ENST00000265720.3 0.083333 1 SLC26A4 5172 __UNKNOWN__ __UNKNOWN__ 7 107330498 107330498 __UNKNOWN__ Intron SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:107330498C>T ENST00000265715.3 + 10 1373 NM_000441.1 NP_000432.1 O43511 S26A4_HUMAN solute carrier family 26 (anion exchanger), member 4 NA NA chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085) apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116) central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 TAATGTACTTCCTGAAATACT 0.428 NA Pendred syndrome NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database Goiter-Deafness syndrome AF030880 CCDS5746.1 7q31 2013-07-18 2013-07-18 ENSG00000091137 ENSG00000091137 5172 Solute carriers 8818 protein-coding gene gene with protein product pendrin 605646 solute carrier family 26, member 4 DFNB4 NA 9500541, 11087667 Standard NM_000441 NM_000441 NA Approved PDS uc003vep.3 O43511 OTTHUMG00000154807 ENST00000265715.3:c.1150-71C>T chr7.hg19:g.107330498C>T NA B7Z266|O43170 hg19 CCDS5746.1 0.02 10.504182 CTTxCTG COVERED NOVEL SLC26A4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000337148.1 2 13.844425 KEEP 0 0 0 46 1584 CC 1 1 0 + 8 60 293 0 0 17.678427 247 60 9256 353 ENST00000265715.3 0.031373 1 SLC26A4 5172 __UNKNOWN__ __UNKNOWN__ 7 107356505 107356505 __UNKNOWN__ 3'UTR SNP C C T rs77315223 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:107356505C>T ENST00000265715.3 + 0 3181 NM_000441.1 NP_000432.1 O43511 S26A4_HUMAN solute carrier family 26 (anion exchanger), member 4 NA NA chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085) apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116) central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 CTAAAAGCTACAGAACCAGGC 0.274 NA Pendred syndrome C||| 61 0.0121805 0.0 0.0144 5008 , , NA 16227 0.0466 NA 0.004 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Familial Cancer Database Goiter-Deafness syndrome AF030880 CCDS5746.1 7q31 2013-07-18 2013-07-18 ENSG00000091137 ENSG00000091137 5172 Solute carriers 8818 protein-coding gene gene with protein product pendrin 605646 solute carrier family 26, member 4 DFNB4 NA 9500541, 11087667 Standard NM_000441 NM_000441 NA Approved PDS uc003vep.3 O43511 OTTHUMG00000154807 ENST00000265715.3:c.*614C>T chr7.hg19:g.107356505C>T NA B7Z266|O43170 hg19 CCDS5746.1 0.02 6.261658 CTAxAGA COVERED NOVEL SLC26A4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000337148.1 2 10.233716 KEEP 0 0 0 34 1232 CC 0.999998 0.999998 0 + 7 60 254 0 0 15.664236 187 60 7061 286 ENST00000265715.3 0.036082 1 CBLL1 79872 __UNKNOWN__ __UNKNOWN__ 7 107384278 107384278 __UNKNOWN__ 5'UTR SNP C C T rs3735607 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:107384278C>T ENST00000440859.3 + 0 137 AC002467.7_ENST00000440971.2_RNA|AC002467.7_ENST00000609979.1_RNA|AC002467.7_ENST00000457510.2_RNA NM_001284291.1|NM_024814.2 NP_001271220.1|NP_079090.2 Q75N03 HAKAI_HUMAN Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase NA NA negative regulation of cell adhesion (GO:0007162)|positive regulation of cell migration (GO:0030335)|positive regulation of endocytosis (GO:0045807)|protein ubiquitination (GO:0016567)|single organismal cell-cell adhesion (GO:0016337) ubiquitin ligase complex (GO:0000151) ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3) 21 GCTTCTGGCTCATTTTTACCA 0.617 NA OREG0018264 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) C||| 1352 0.269968 0.056 0.2824 5008 , , NA 15364 0.3532 NA 0.2644 False NA ,,, NA NA NA 2504 0.4703 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AK026762 CCDS5747.1, CCDS64754.1 7q22.3 2013-07-09 2013-07-09 ENSG00000105879 ENSG00000105879 79872 RING-type (C3HC4) zinc fingers 21225 protein-coding gene gene with protein product Casitas B-lineage lymphoma-like 606872 Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1 NA 11836526, 11944035 Standard NM_024814 NM_001284291 NA Approved HAKAI, FLJ23109, RNF188 uc003veq.3 Q75N03 OTTHUMG00000154809 ENST00000440859.3:c.-331C>T chr7.hg19:g.107384278C>T 1404 B7ZM03|Q8TAJ4|Q9H5S6 hg19 CCDS5747.1 0.02 12.515488 GCTxATT COVERED NOVEL CBLL1-004 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000337156.2 0 58.482454 KEEP 0 3 87 225 7819 CC 1 1 0 + 17 60 620 0 0 40.988424 315 60 12029 721 ENST00000440859.3 0.051205 1 CBLL1 79872 __UNKNOWN__ __UNKNOWN__ 7 107384309 107384309 __UNKNOWN__ 5'UTR SNP C C G rs3735606 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:107384309C>G ENST00000440859.3 + 0 168 AC002467.7_ENST00000440971.2_RNA|AC002467.7_ENST00000609979.1_RNA|AC002467.7_ENST00000457510.2_RNA NM_001284291.1|NM_024814.2 NP_001271220.1|NP_079090.2 Q75N03 HAKAI_HUMAN Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase NA NA negative regulation of cell adhesion (GO:0007162)|positive regulation of cell migration (GO:0030335)|positive regulation of endocytosis (GO:0045807)|protein ubiquitination (GO:0016567)|single organismal cell-cell adhesion (GO:0016337) ubiquitin ligase complex (GO:0000151) ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3) 21 CTTCCCCGGTCCCCCTGGTGT 0.572 NA OREG0018264 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) C||| 1753 0.35004 0.3427 0.3012 5008 , , NA 16476 0.3542 NA 0.2654 False NA ,,, NA NA NA 2504 0.4775 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AK026762 CCDS5747.1, CCDS64754.1 7q22.3 2013-07-09 2013-07-09 ENSG00000105879 ENSG00000105879 79872 RING-type (C3HC4) zinc fingers 21225 protein-coding gene gene with protein product Casitas B-lineage lymphoma-like 606872 Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1 NA 11836526, 11944035 Standard NM_024814 NM_001284291 NA Approved HAKAI, FLJ23109, RNF188 uc003veq.3 Q75N03 OTTHUMG00000154809 ENST00000440859.3:c.-300C>G chr7.hg19:g.107384309C>G 1404 B7ZM03|Q8TAJ4|Q9H5S6 hg19 CCDS5747.1 0.02 15.05881 GGTxCCC COVERED NOVEL CBLL1-004 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000337156.2 3 56.770825 KEEP 0 3 113 228 7864 CC 1 1 0 + 18 60 699 0 0 47.964469 320 60 11876 758 ENST00000440859.3 0.053254 1 SLC26A3 1811 __UNKNOWN__ __UNKNOWN__ 7 107418793 107418793 __UNKNOWN__ Intron SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:107418793C>T ENST00000340010.5 - 13 1592 SLC26A3_ENST00000422236.2_Intron NM_000111.2 NP_000102.1 P40879 S26A3_HUMAN solute carrier family 26 (anion exchanger), member 3 NA NA anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085) apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225) anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 GAGACGGGGTCTTTTAAAAAG 0.328 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L02785 CCDS5748.1 7q31 2014-09-17 2013-07-18 ENSG00000091138 ENSG00000091138 1811 Solute carriers 3018 protein-coding gene gene with protein product 126650 congenital chloride diarrhea, solute carrier family 26, member 3 DRA, CLD NA 8020951, 11087667 Standard NM_000111 NM_000111 NA Approved uc003ver.2 P40879 OTTHUMG00000154812 ENST00000340010.5:c.1408-67G>A chr7.hg19:g.107418793C>T NA hg19 CCDS5748.1 0.02 1.094422 GGTxTTT COVERED NOVEL SLC26A3-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000337190.1 1 2.294613 KEEP 0 3 42 23 793 CC 0.999957 0.99619 0 - 8 60 149 0 0 8.434776 56 60 1876 106 ENST00000340010.5 0.125 0.996233 SLC26A3 1811 __UNKNOWN__ __UNKNOWN__ 7 107423254 107423254 __UNKNOWN__ Silent SNP C C T rs3735605 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:107423254C>T ENST00000340010.5 - 11 1483 c.1299G>A c.(1297-1299)gcG>gcA p.A433A SLC26A3_ENST00000422236.2_Silent_p.A398A NM_000111.2 NP_000102.1 P40879 S26A3_HUMAN solute carrier family 26 (anion exchanger), member 3 433 NA anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085) apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225) anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 TTTGTAGAGGCGCCAGGAGAA 0.413 NA C||| 756 0.150958 0.0552 0.1369 5008 , , NA 18734 0.2758 NA 0.175 False NA ,,, NA NA NA 2504 0.137 NA NA NA NA 0 C 328,4078 174.4+/-204.0 16,296,1891 86 85 85 1299 -0.1 0.1 7 dbSNP_107 85 1523,7077 287.5+/-298.3 148,1227,2925 no coding-synonymous SLC26A3 NM_000111.2 164,1523,4816 TT,TC,CC 17.7093,7.4444,14.2319 433/765 107423254 1851,11155 2203 4300 6503 SO:0001819 synonymous_variant L02785 CCDS5748.1 7q31 2014-09-17 2013-07-18 ENSG00000091138 ENSG00000091138 1811 Solute carriers 3018 protein-coding gene gene with protein product 126650 congenital chloride diarrhea, solute carrier family 26, member 3 DRA, CLD NA 8020951, 11087667 Standard NM_000111 NM_000111 NA Approved uc003ver.2 P40879 OTTHUMG00000154812 ENST00000340010.5:c.1299G>A chr7.hg19:g.107423254C>T NA hg19 CCDS5748.1 0.02 12.239601 AGGxGCC COVERED NOVEL SLC26A3-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000337190.1 4 21.100741 KEEP 0 1 31 81 2805 CC 1 1 0 - 14 60 452 0 0 27.221235 293 60 10671 467 ENST00000340010.5 0.045603 1 DLD 1738 __UNKNOWN__ __UNKNOWN__ 7 107546937 107546937 __UNKNOWN__ Intron SNP A A G rs10281520 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:107546937A>G ENST00000205402.5 + 8 965 DLD_ENST00000537148.1_Intron|DLD_ENST00000437604.2_Intron|DLD_ENST00000440410.1_Intron NM_000108.3 NP_000099.2 P09622 DLDH_HUMAN dihydrolipoamide dehydrogenase NA NA branched-chain amino acid catabolic process (GO:0009083)|cell redox homeostasis (GO:0045454)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|gastrulation (GO:0007369)|lysine catabolic process (GO:0006554)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|proteolysis (GO:0006508)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of membrane potential (GO:0042391)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|tricarboxylic acid cycle (GO:0006099) acrosomal matrix (GO:0043159)|cilium (GO:0005929)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634) dihydrolipoyl dehydrogenase activity (GO:0004148)|flavin adenine dinucleotide binding (GO:0050660) NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1) 20 Flavin adenine dinucleotide(DB03147) aaacacttctagtaataaaga 0.318 NA A||| 2026 0.404553 0.6452 0.2738 5008 , , NA 18430 0.5179 NA 0.1918 False NA ,,, NA NA NA 2504 0.274 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB209703 CCDS5749.1 7q31-q32 2006-05-22 2006-05-22 ENSG00000091140 ENSG00000091140 1738 1.8.1.4 2898 protein-coding gene gene with protein product E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex 238331 dihydrolipoamide dehydrogenase (E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex) LAD, GCSL NA Standard NM_000108 NM_000108 NA Approved DLDH uc003vet.3 P09622 OTTHUMG00000154813 ENST00000205402.5:c.684+124A>G chr7.hg19:g.107546937A>G NA B2R5X0|B4DHG0|B4DT69|Q14131|Q14167|Q59EV8|Q8WTS4 hg19 CCDS5749.1 0.02 3.988462 TCTxGTA COVERED NOVEL DLD-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000337194.3 2 7.823047 KEEP 0 0 0 26 791 AA 0.999957 0.999956 0 + 5 60 181 0 0 11.390191 119 60 4468 155 ENST00000205402.5 0.040323 0.999999 LAMB4 22798 __UNKNOWN__ __UNKNOWN__ 7 107746432 107746432 __UNKNOWN__ Missense_Mutation SNP G G A rs2074749 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:107746432G>A ENST00000388781.3 - 8 783 c.700C>T c.(700-702)Cac>Tac p.H234Y LAMB4_ENST00000414450.2_Missense_Mutation_p.H234Y|LAMB4_ENST00000205386.4_Missense_Mutation_p.H234Y|LAMB4_ENST00000418464.1_Missense_Mutation_p.H234Y|LAMB4_ENST00000388780.3_Missense_Mutation_p.H234Y NM_007356.2 NP_031382.2 A4D0S4 LAMB4_HUMAN laminin, beta 4 234 Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}. NA H -> Y (in dbSNP:rs2074749). cell adhesion (GO:0007155) basement membrane (GO:0005604) NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 CCAAGGGTGTGGAGCTTGGTA 0.413 NA G||| 220 0.0439297 0.0 0.0173 5008 , , NA 20658 0.1161 NA 0.005 False NA ,,, NA NA NA 2504 0.0879 NA NA NA NA 0 G TYR/HIS 9,4397 12.9+/-30.5 0,9,2194 107 98 101 700 4.7 1 7 dbSNP_96 101 68,8532 42.2+/-99.7 0,68,4232 yes missense LAMB4 NM_007356.2 83 0,77,6426 AA,AG,GG 0.7907,0.2043,0.592 possibly-damaging 234/1762 107746432 77,12929 2203 4300 6503 SO:0001583 missense AF028816 CCDS34732.1 7q31 2013-03-01 ENSG00000091128 ENSG00000091128 22798 Laminins 6491 protein-coding gene gene with protein product NA Standard XM_209857 NM_007356 NA Approved uc010ljo.1 A4D0S4 OTTHUMG00000154874 ENST00000388781.3:c.700C>T chr7.hg19:g.107746432G>A ENSP00000373433:p.His234Tyr NA A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5 hg19 CCDS34732.1 0.02 15.631656 TGTxGAG COVERED 73 0.033424908424908424 0 0.0 8 0.022099447513812154 60 0.1048951048951049 5 0.006596306068601583 G 19.36 3.812036 0.70797 0.002043 0.007907 ENSG00000091128 ENST00000205386;ENST00000388781;ENST00000388780;ENST00000418464;ENST00000414450 T;T;T;T;T 0.76448 -1.02;-1.02;-1.02;-1.02;-1.02 4.72 4.72 0.59763 Laminin, N-terminal (3); 0.000000 0.49305 D 0.000160 T 0.19685 0.0473 M 0.85630 2.765 0.43080 D 0.994732 D 0.57571 0.98 P 0.55577 0.779 T 0.66956 -0.5792 10 0.87932 D 0 . 17.8868 0.88858 0.0:0.0:1.0:0.0 rs2074749;rs52832461;rs56539739;rs58883312;rs2074749 234 A4D0S4 LAMB4_HUMAN Y 234 ENSP00000205386:H234Y;ENSP00000373433:H234Y;ENSP00000373432:H234Y;ENSP00000402353:H234Y;ENSP00000402265:H234Y ENSP00000205386:H234Y H - 1 0 LAMB4 107533668 1.000000 0.71417 1.000000 0.80357 0.978000 0.69477 3.058000 0.49939 2.440000 0.82611 0.655000 0.94253 CAC NOVEL LAMB4-202 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000337442.1 0 18.058234 KEEP 0 0 0 60 2106 GG 1 1 0 - 13 60 480 0 0 29.376075 383 60 14240 556 ENST00000388781.3 0.032828 1 PNPLA8 50640 __UNKNOWN__ __UNKNOWN__ 7 108111566 108111566 __UNKNOWN__ 3'UTR SNP G G A rs6466238 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:108111566G>A ENST00000426128.2 - 0 3567 NM_001256009.1 NP_001242938.1 Q9NP80 PLPL8_HUMAN patatin-like phospholipase domain containing 8 NA NA arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|cell death (GO:0008219)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|linoleic acid metabolic process (GO:0043651)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylcholine catabolic process (GO:0034638)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylethanolamine catabolic process (GO:0046338)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281) endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777) ATP binding (GO:0005524)|calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622) breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3) 29 TGTTTGGCATGAACAATGTTC 0.328 NA A||| 1141 0.227835 0.3828 0.2046 5008 , , NA 20499 0.0734 NA 0.2773 False NA ,,, NA NA NA 2504 0.1431 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF217519 CCDS34733.1, CCDS59075.1, CCDS59508.1 7q31 2012-07-31 ENSG00000135241 ENSG00000135241 50640 Patatin-like phospholipase domain containing 28900 protein-coding gene gene with protein product 612123 NA 10744668, 10833412, 16799181, 19029121 Standard NM_015723 NM_015723 NA Approved IPLA2G, IPLA2-2, iPLA2gamma uc003vfj.2 Q9NP80 OTTHUMG00000154870 ENST00000426128.2:c.*1279C>T chr7.hg19:g.108111566G>A NA A4D0S1|C9JZI4|O95035|Q8N3I3|Q9H7T5|Q9NR17|Q9NUN2|Q9NZ79 hg19 CCDS59508.1 0.02 3.994929 CATxAAC COVERED NOVEL PNPLA8-006 NOVEL alternative_5_UTR|basic|CCDS protein_coding NA protein_coding OTTHUMT00000337479.2 2 7.825571 KEEP 0 0 0 26 921 GG 0.999957 0.999957 0 - 6 60 210 0 0 13.001343 140 60 5380 223 ENST00000426128.2 0.041096 1 IFRD1 3475 __UNKNOWN__ __UNKNOWN__ 7 112090939 112090939 __UNKNOWN__ Intron SNP C C T rs55884191 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:112090939C>T ENST00000403825.3 + 1 355 IFRD1_ENST00000429071.1_Intron|IFRD1_ENST00000005558.4_Intron NM_001550.3 NP_001541.2 O00458 IFRD1_HUMAN interferon-related developmental regulator 1 NA NA adult somatic muscle development (GO:0007527)|multicellular organismal development (GO:0007275)|myoblast fate determination (GO:0007518) nucleus (GO:0005634) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1) 15 CTGATGTACACATTTGCATTT 0.592 NA C||| 325 0.0648962 0.0454 0.0303 5008 , , NA 17072 0.0863 NA 0.0626 False NA ,,, NA NA NA 2504 0.0961 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Y10313 CCDS34736.1, CCDS56504.1 7q31.1 2005-10-17 ENSG00000006652 ENSG00000006652 3475 5456 protein-coding gene gene with protein product 603502 NA 9722946 Standard NM_001550 NM_001550 NA Approved PC4, TIS7 uc003vgh.3 O00458 OTTHUMG00000155124 ENST00000403825.3:c.94+102C>T chr7.hg19:g.112090939C>T NA B7Z5G1|O75234|Q5U013|Q9BVE4 hg19 CCDS34736.1 0.02 6.342872 ACAxATT COVERED NOVEL IFRD1-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000338700.1 1 43.640077 KEEP 0 0 0 145 5057 CC 1 1 0 + 14 60 485 0 0 34.490368 148 60 5645 383 ENST00000403825.3 0.08642 1 IFRD1 3475 __UNKNOWN__ __UNKNOWN__ 7 112090989 112090989 __UNKNOWN__ Intron SNP C C T rs185340202 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:112090989C>T ENST00000403825.3 + 1 355 IFRD1_ENST00000429071.1_Intron|IFRD1_ENST00000005558.4_Intron NM_001550.3 NP_001541.2 O00458 IFRD1_HUMAN interferon-related developmental regulator 1 NA NA adult somatic muscle development (GO:0007527)|multicellular organismal development (GO:0007275)|myoblast fate determination (GO:0007518) nucleus (GO:0005634) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1) 15 CAATTCCCAGCGTGCCCTGGG 0.592 NA C||| 5 0.000998403 0.0 0.0 5008 , , NA 17292 0.005 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Y10313 CCDS34736.1, CCDS56504.1 7q31.1 2005-10-17 ENSG00000006652 ENSG00000006652 3475 5456 protein-coding gene gene with protein product 603502 NA 9722946 Standard NM_001550 NM_001550 NA Approved PC4, TIS7 uc003vgh.3 O00458 OTTHUMG00000155124 ENST00000403825.3:c.94+152C>T chr7.hg19:g.112090989C>T NA B7Z5G1|O75234|Q5U013|Q9BVE4 hg19 CCDS34736.1 0.02 2.273497 CAGxGTG COVERED NOVEL IFRD1-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000338700.1 2 10.22803 KEEP 0 0 0 34 1062 CC 0.999998 0.996722 0 + 7 60 260 0 0 19.505683 62 60 1956 117 ENST00000403825.3 0.101449 0.996724 FOXP2 93986 __UNKNOWN__ __UNKNOWN__ 7 114139684 114139684 __UNKNOWN__ Intron SNP G G A rs12113612 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:114139684G>A ENST00000393494.2 + 3 447 FOXP2_ENST00000393489.3_Intron|FOXP2_ENST00000350908.4_Intron|FOXP2_ENST00000462331.1_3'UTR|FOXP2_ENST00000393500.3_Intron|FOXP2_ENST00000408937.3_Intron|FOXP2_ENST00000360232.4_Intron|FOXP2_ENST00000393498.2_Intron|FOXP2_ENST00000378237.3_Intron|FOXP2_ENST00000390668.3_Intron|FOXP2_ENST00000403559.4_Intron|FOXP2_ENST00000459666.1_Intron O15409 FOXP2_HUMAN forkhead box P2 NA NA camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 taaatttgtggctcacctcta 0.299 NA G||| 2162 0.431709 0.3918 0.4784 5008 , , NA 16466 0.4345 NA 0.4394 False NA ,,, NA NA NA 2504 0.4417 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U80741 CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1 7q31 2008-07-18 ENSG00000128573 ENSG00000128573 93986 Forkhead boxes 13875 protein-coding gene gene with protein product trinucleotide repeat containing 10, forkhead/winged-helix transcription factor, speech and language disorder 1, CAG repeat protein 44 605317 TNRC10, SPCH1 NA 11586359, 9225980 Standard NM_014491 NM_014491 NA Approved CAGH44 uc003vgz.3 O15409 OTTHUMG00000023131 ENST00000393494.2:c.169-34988G>A chr7.hg19:g.114139684G>A NA A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74 hg19 CCDS5760.1 0.02 6.161949 GTGxCTC COVERED NOVEL FOXP2-014 KNOWN alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000317366.1 1 10.534277 KEEP 0 0 0 35 1259 GG 0.999999 0.999999 0 + 7 60 219 0 0 13.06269 153 60 5672 243 ENST00000393494.2 0.04375 1 FOXP2 93986 __UNKNOWN__ __UNKNOWN__ 7 114296545 114296545 __UNKNOWN__ Intron SNP A A C rs881732 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:114296545A>C ENST00000393494.2 + 11 1545 FOXP2_ENST00000393489.3_Intron|FOXP2_ENST00000350908.4_Intron|FOXP2_ENST00000393500.3_Silent_p.S364S|FOXP2_ENST00000393491.3_Intron|FOXP2_ENST00000408937.3_Intron|FOXP2_ENST00000393498.2_Intron|FOXP2_ENST00000403559.4_Intron O15409 FOXP2_HUMAN forkhead box P2 NA NA camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 TGCGTTTCTCAAACTATGCAG 0.338 NA A||| 1198 0.239217 0.1445 0.2896 5008 , , NA 20181 0.131 NA 0.4105 False NA ,,, NA NA NA 2504 0.2669 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U80741 CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1 7q31 2008-07-18 ENSG00000128573 ENSG00000128573 93986 Forkhead boxes 13875 protein-coding gene gene with protein product trinucleotide repeat containing 10, forkhead/winged-helix transcription factor, speech and language disorder 1, CAG repeat protein 44 605317 TNRC10, SPCH1 NA 11586359, 9225980 Standard NM_014491 NM_014491 NA Approved CAGH44 uc003vgz.3 O15409 OTTHUMG00000023131 ENST00000393494.2:c.1267-1576A>C chr7.hg19:g.114296545A>C NA A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74 hg19 CCDS5760.1 0.02 10.549121 CTCxAAC COVERED NOVEL FOXP2-014 KNOWN alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000317366.1 2 8.456777 KEEP 0 1 31 39 1227 AA 1 1 0 + 11 60 399 0 0 24.944081 273 60 10099 380 ENST00000393494.2 0.038732 1 FOXP2 93986 __UNKNOWN__ __UNKNOWN__ 7 114299774 114299774 __UNKNOWN__ Intron SNP A A G rs72603568 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:114299774A>G ENST00000393494.2 + 13 1926 FOXP2_ENST00000393489.3_Intron|FOXP2_ENST00000350908.4_Intron|FOXP2_ENST00000393500.3_Intron|FOXP2_ENST00000393491.3_Intron|FOXP2_ENST00000408937.3_Intron|FOXP2_ENST00000393498.2_Intron|FOXP2_ENST00000403559.4_Intron O15409 FOXP2_HUMAN forkhead box P2 NA NA camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 acagttccttacagatagcac 0.413 NA A||| 602 0.120208 0.0129 0.0821 5008 , , NA 20136 0.3452 NA 0.0189 False NA ,,, NA NA NA 2504 0.1646 NA NA NA NA 0 A ,,, 46,4360 45.3+/-79.5 1,44,2158 54 52 52 ,,, -11.8 0 7 dbSNP_130 52 88,8510 49.8+/-109.6 0,88,4211 no intron,intron,intron,intron FOXP2 NM_001172766.2,NM_014491.3,NM_148898.3,NM_148900.3 ,,, 1,132,6369 GG,GA,AA 1.0235,1.044,1.0305 ,,, ,,, 114299774 134,12870 2203 4299 6502 SO:0001627 intron_variant U80741 CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1 7q31 2008-07-18 ENSG00000128573 ENSG00000128573 93986 Forkhead boxes 13875 protein-coding gene gene with protein product trinucleotide repeat containing 10, forkhead/winged-helix transcription factor, speech and language disorder 1, CAG repeat protein 44 605317 TNRC10, SPCH1 NA 11586359, 9225980 Standard NM_014491 NM_014491 NA Approved CAGH44 uc003vgz.3 O15409 OTTHUMG00000023131 ENST00000393494.2:c.1647+46A>G chr7.hg19:g.114299774A>G NA A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74 hg19 CCDS5760.1 0.02 9.788001 CTTxCAG COVERED NOVEL FOXP2-014 KNOWN alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000317366.1 0 10.82902 KEEP 0 0 0 36 1066 AA 0.999999 0.999999 0 + 8 60 314 0 0 20.063217 227 60 8029 306 ENST00000393494.2 0.034043 1 MDFIC 29969 __UNKNOWN__ __UNKNOWN__ 7 114658486 114658486 __UNKNOWN__ 3'UTR SNP A A G rs13237006 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:114658486A>G ENST00000393486.1 + 0 3828 MDFIC_ENST00000257724.3_3'UTR NM_001166345.1|NM_199072.4 NP_001159817.1|NP_951038.1 MyoD family inhibitor domain containing NA NA breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 8 ATGTTAATGGATACCAGAATT 0.284 NA A||| 1136 0.226837 0.115 0.1441 5008 , , NA 15570 0.3274 NA 0.2048 False NA ,,, NA NA NA 2504 0.3558 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF054589 CCDS34737.1, CCDS55155.1 7q31.1-q31.2 2006-01-11 ENSG00000135272 ENSG00000135272 29969 28870 protein-coding gene gene with protein product 614511 NA 10671520 Standard NM_199072 NM_199072 NA Approved HIC uc003vhf.3 Q9P1T7 OTTHUMG00000023647 ENST00000393486.1:c.*2497A>G chr7.hg19:g.114658486A>G NA hg19 CCDS55155.1 0.02 8.488833 TGGxTAC COVERED NOVEL MDFIC-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000059968.4 1 6.318618 KEEP 0 0 0 21 655 AA 0.999869 0.999869 0 + 11 60 403 0 0 27.054604 189 60 6863 232 ENST00000393486.1 0.055 1 MET 4233 __UNKNOWN__ __UNKNOWN__ 7 116339027 116339027 __UNKNOWN__ Intron SNP G G A rs186375389 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:116339027G>A ENST00000318493.6 + 2 173 MET_ENST00000397752.3_Intron Q9NWH9 SLTM_HUMAN MET proto-oncogene, receptor tyrosine kinase NA NA apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822) NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3) 233 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) AGTCCAGTTGGGAAGCTTTAT 0.363 NA Mis papillary renal, head-neck squamous cell papillary renal Hereditary Papillary Renal Carcinoma (type 1) G||| 13 0.00259585 0.0 0.0 5008 , , NA 20014 0.0109 NA 0.0 False NA ,,, NA NA NA 2504 0.002 NA NA NA Dom yes Familial Papillary Renal Cancer 7 7q31 4233 met proto-oncogene (hepatocyte growth factor receptor) E 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database HPRC, Hereditary Papillary Renal Cell Cancer M35073 CCDS43636.1, CCDS47689.1 7q31 2014-09-17 2014-06-26 ENSG00000105976 ENSG00000105976 4233 2.7.10.1 7029 protein-coding gene gene with protein product hepatocyte growth factor receptor 164860 met proto-oncogene NA 1846706, 1611909 Standard NM_001127500 NA Approved HGFR, RCCP2 uc010lkh.3 P08581 OTTHUMG00000023299 ENST00000318493.6:c.-14-98G>A chr7.hg19:g.116339027G>A NA A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9 hg19 CCDS47689.1 0.02 7.471312 TTGxGAA COVERED NOVEL MET-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000059620.3 1 7.223393 KEEP 0 0 0 24 836 GG 0.999909 0.999909 0 + 8 60 282 0 0 16.667753 241 60 8606 291 ENST00000318493.6 0.032129 1 ST7 7982 __UNKNOWN__ __UNKNOWN__ 7 116600223 116600223 __UNKNOWN__ Intron SNP G G A rs74301894 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:116600223G>A ENST00000393446.2 + 1 454 ST7-OT4_ENST00000466018.1_Intron|ST7-OT4_ENST00000397751.1_Intron|ST7_ENST00000393449.1_Intron|ST7_ENST00000393451.3_Intron|ST7_ENST00000265437.5_Intron|ST7_ENST00000323984.3_Intron Q9Y561 LRP12_HUMAN suppression of tumorigenicity 7 NA NA endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165) coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887) low-density lipoprotein receptor activity (GO:0005041) NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1) 21 all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847) STAD - Stomach adenocarcinoma(10;0.000512) LUSC - Lung squamous cell carcinoma(290;0.133) ctccaaatacgctggGATTCt 0.423 NA G||| 448 0.0894569 0.087 0.0634 5008 , , NA 20046 0.1438 NA 0.0905 False NA ,,, NA NA NA 2504 0.0542 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ277291 CCDS5769.1, CCDS5770.1 7q31.2 2008-06-06 ENSG00000004866 ENSG00000004866 7982 11351 protein-coding gene gene with protein product 600833 FAM4A1 NA 8105370, 8938430 Standard NM_021908 NM_021908 NA Approved TSG7, SEN4, ETS7q, HELG, RAY1, FAM4A uc003vin.3 Q9NRC1 OTTHUMG00000023888 ENST00000393446.2:c.151+6478G>A chr7.hg19:g.116600223G>A NA A8K137|B4DRQ2 hg19 0.02 15.098351 TACxCTG COVERED NOVEL ST7-013 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000319687.1 14 28.799853 KEEP 0 1 32 107 3660 GG 1 1 0 + 17 60 592 0 0 36.990774 373 60 13338 610 ENST00000393446.2 0.04359 1 ST7 7982 __UNKNOWN__ __UNKNOWN__ 7 116611778 116611778 __UNKNOWN__ Intron SNP G G A rs77006756 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:116611778G>A ENST00000393446.2 + 1 454 ST7_ENST00000393449.1_Intron|ST7_ENST00000393451.3_Intron|ST7_ENST00000265437.5_Intron|ST7_ENST00000323984.3_Intron Q9Y561 LRP12_HUMAN suppression of tumorigenicity 7 NA NA endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165) coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887) low-density lipoprotein receptor activity (GO:0005041) NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1) 21 all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847) STAD - Stomach adenocarcinoma(10;0.000512) LUSC - Lung squamous cell carcinoma(290;0.133) AGTAAGGCAGGCCTATACCTT 0.453 NA G||| 137 0.0273562 0.0416 0.0014 5008 , , NA 17043 0.0556 NA 0.003 False NA ,,, NA NA NA 2504 0.0225 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ277291 CCDS5769.1, CCDS5770.1 7q31.2 2008-06-06 ENSG00000004866 ENSG00000004866 7982 11351 protein-coding gene gene with protein product 600833 FAM4A1 NA 8105370, 8938430 Standard NM_021908 NM_021908 NA Approved TSG7, SEN4, ETS7q, HELG, RAY1, FAM4A uc003vin.3 Q9NRC1 OTTHUMG00000023888 ENST00000393446.2:c.151+18033G>A chr7.hg19:g.116611778G>A NA A8K137|B4DRQ2 hg19 0.02 1.868581 CAGxCCT COVERED NOVEL ST7-013 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000319687.1 0 3.00989 KEEP 0 0 0 10 360 GG 0.992708 0.992119 0 + 5 60 180 0 0 12.210114 77 60 2862 118 ENST00000393446.2 0.060976 0.999407 ST7 7982 __UNKNOWN__ __UNKNOWN__ 7 116829463 116829463 __UNKNOWN__ Intron SNP T T C rs185187 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:116829463T>C ENST00000393446.2 + 10 1385 ST7_ENST00000393447.4_Intron|ST7_ENST00000323984.3_Intron|ST7_ENST00000487459.1_Intron|ST7_ENST00000432298.1_Intron|ST7_ENST00000393451.3_Intron|ST7_ENST00000393449.1_Intron|ST7_ENST00000265437.5_Intron|ST7_ENST00000393444.3_Intron|ST7_ENST00000393443.1_Intron|ST7_ENST00000422922.1_Intron Q9Y561 LRP12_HUMAN suppression of tumorigenicity 7 NA NA endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165) coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887) low-density lipoprotein receptor activity (GO:0005041) NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1) 21 all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847) STAD - Stomach adenocarcinoma(10;0.000512) LUSC - Lung squamous cell carcinoma(290;0.133) TGAATAATAGTTTGCGCGGTA 0.438 NA C||| 848 0.169329 0.3321 0.0965 5008 , , NA 20390 0.2004 NA 0.0298 False NA ,,, NA NA NA 2504 0.1125 NA NA NA NA 0 C , 1341,3065 678.9+/-403.6 191,959,1053 75 67 70 , 4.8 0 7 dbSNP_79 70 312,8288 799.0+/-407.4 6,300,3994 no intron,intron ST7 NM_018412.3,NM_021908.2 , 197,1259,5047 CC,CT,TT 3.6279,30.4358,12.7095 , , 116829463 1653,11353 2203 4300 6503 SO:0001627 intron_variant AJ277291 CCDS5769.1, CCDS5770.1 7q31.2 2008-06-06 ENSG00000004866 ENSG00000004866 7982 11351 protein-coding gene gene with protein product 600833 FAM4A1 NA 8105370, 8938430 Standard NM_021908 NM_021908 NA Approved TSG7, SEN4, ETS7q, HELG, RAY1, FAM4A uc003vin.3 Q9NRC1 OTTHUMG00000023888 ENST00000393446.2:c.1082+16T>C chr7.hg19:g.116829463T>C NA A8K137|B4DRQ2 hg19 0.02 12.677965 TAGxTTG COVERED NOVEL ST7-013 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000319687.1 1 11.434138 KEEP 0 0 0 38 1191 TT 1 1 0 + 11 60 443 1 0 29.604807 258 60 9060 383 ENST00000393446.2 0.040892 1 WNT2 7472 __UNKNOWN__ __UNKNOWN__ 7 116918085 116918085 __UNKNOWN__ 3'UTR SNP C C T rs2228946 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:116918085C>T ENST00000265441.3 - 0 1506 NM_003391.2 NP_003382.1 P09544 WNT2_HUMAN wingless-type MMTV integration site family member 2 NA NA atrial cardiac muscle tissue morphogenesis (GO:0055009)|canonical Wnt signaling pathway (GO:0060070)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|iris morphogenesis (GO:0061072)|labyrinthine layer blood vessel development (GO:0060716)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|lung induction (GO:0060492)|mammary gland epithelium development (GO:0061180)|neuron differentiation (GO:0030182)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Wnt signaling pathway (GO:0016055) cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578) cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018) breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2) 31 all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109) STAD - Stomach adenocarcinoma(10;0.000512) LUSC - Lung squamous cell carcinoma(290;0.133) GAGGGGGCTTCCGTTGAGATA 0.547 NA C||| 869 0.173522 0.3351 0.1484 5008 , , NA 17938 0.0119 NA 0.2147 False NA ,,, NA NA NA 2504 0.0971 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X07876 CCDS5771.1 7q31 2013-02-28 ENSG00000105989 ENSG00000105989 7472 Wingless-type MMTV integration sites, Endogenous ligands 12780 protein-coding gene gene with protein product secreted growth factor 147870 INT1L1 NA 2971536 Standard NM_003391 NM_003391 NA Approved IRP uc003viz.3 P09544 OTTHUMG00000023428 ENST00000265441.3:c.*124G>A chr7.hg19:g.116918085C>T NA A4D0V1|Q75N05|Q9UDP9 hg19 CCDS5771.1 0.02 13.599063 CTTxCGT COVERED NOVEL WNT2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000059749.3 0 9.327858 KEEP 0 0 0 31 1041 CC 0.999997 0.999997 0 - 11 60 386 0 0 22.113041 379 60 13909 476 ENST00000265441.3 0.028205 1 ASZ1 136991 __UNKNOWN__ __UNKNOWN__ 7 117003539 117003539 __UNKNOWN__ 3'UTR SNP T T A rs989727 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:117003539T>A ENST00000284629.2 - 0 1601 NM_130768.2 NP_570124.1 ankyrin repeat, SAM and basic leucine zipper domain containing 1 NA NA breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1) 24 Lung NSC(10;0.00156)|all_lung(10;0.00175) STAD - Stomach adenocarcinoma(10;0.000512) ATTTTTCCTATGGAATATTGG 0.254 NA T||| 1111 0.221845 0.0764 0.2478 5008 , , NA 15331 0.4028 NA 0.0775 False NA ,,, NA NA NA 2504 0.362 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF461259 CCDS5772.1 7q31.2 2013-01-10 2005-03-15 2004-07-16 ENSG00000154438 ENSG00000154438 136991 Sterile alpha motif (SAM) domain containing, Ankyrin repeat domain containing 1350 protein-coding gene gene with protein product 605797 ankyrin-like 1 C7orf7, ANKL1 NA 12040005, 11279520 Standard NM_130768 NM_130768 NA Approved Orf3, GASZ, ALP1, CT1.19 uc003vjb.2 Q8WWH4 OTTHUMG00000064565 ENST00000284629.2:c.*111A>T chr7.hg19:g.117003539T>A NA hg19 CCDS5772.1 0.02 1.962918 CTAxGGA COVERED NOVEL ASZ1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000138907.7 0 4.514263 KEEP 0 0 0 15 492 TT 0.99649 0.996398 0 - 4 60 152 0 0 9.92655 90 60 3327 138 ENST00000284629.2 0.042553 0.999907 NAA38 84316 __UNKNOWN__ __UNKNOWN__ 7 117831175 117831175 __UNKNOWN__ Intron SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:117831175G>A ENST00000249299.2 + 4 392 NAA38_ENST00000424702.1_3'UTR|NAA38_ENST00000422760.1_Intron NM_016200.4 NP_057284.1 Q9BRA0 LSMD1_HUMAN N(alpha)-acetyltransferase 38, NatC auxiliary subunit NA NA negative regulation of apoptotic process (GO:0043066) cytoplasm (GO:0005737)|NatC complex (GO:0031417)|nucleus (GO:0005634) endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1) 8 aaaaaaaaaagaaTTTACTCT 0.348 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS11122.1 17p13.1 2014-01-21 2014-01-21 2014-01-21 ENSG00000183011 84316 N(alpha)-acetyltransferase subunits 28212 protein-coding gene gene with protein product LSM domain containing 1 LSMD1 NA 16484612, 19398576 Standard NM_032356 NM_032356 NA Approved MGC14151, PFAAP2 uc002gja.3 Q9BRA0 ENST00000249299.2:c.201-791G>A chr7.hg19:g.117831175G>A NA Q8N4M0 hg19 CCDS5775.1 0.02 0.593682 AAAxAAT COVERED NOVEL NAA38-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000346774.2 7 4.634995 KEEP 0 5 36 29 871 GG 0.999998 0.989541 0 + 9 60 133 0 0 6.919275 52 60 1459 134 ENST00000249299.2 0.147541 0.989542 KCND2 3751 __UNKNOWN__ __UNKNOWN__ 7 120389648 120389648 __UNKNOWN__ 3'UTR SNP T T A rs727228 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:120389648T>A ENST00000331113.4 + 0 4594 RP4-797C5.2_ENST00000450480.1_RNA NM_012281.2 NP_036413.1 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 2 NA NA action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268) dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076) A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249) NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 75 all_neural(327;0.117) Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458) AACCATTTTCTAGTAAAGCCA 0.313 NA A||| 2124 0.424121 0.7693 0.3285 5008 , , NA 3426 0.4167 NA 0.2316 False NA ,,, NA NA NA 2504 0.2311 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ010969 CCDS5776.1 7q31 2012-07-05 ENSG00000184408 ENSG00000184408 3751 Potassium channels, Voltage-gated ion channels / Potassium channels 6238 protein-coding gene gene with protein product 605410 NA 10551270, 16382104 Standard NM_012281 NM_012281 NA Approved Kv4.2, RK5, KIAA1044 uc003vjj.1 Q9NZV8 OTTHUMG00000156989 ENST00000331113.4:c.*1736T>A chr7.hg19:g.120389648T>A NA O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9 hg19 CCDS5776.1 0.02 6.738828 TTCxAGT COVERED NOVEL KCND2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000346996.1 2 2.405769 KEEP 0 0 0 8 236 TT 0.99257 0.99257 0 + 6 60 224 0 0 14.308723 145 60 5217 172 ENST00000331113.4 0.039735 1 ING3 54556 __UNKNOWN__ __UNKNOWN__ 7 120596469 120596469 __UNKNOWN__ Intron SNP C C T rs145250349 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:120596469C>T ENST00000315870.5 + 4 415 ING3_ENST00000339121.5_3'UTR|ING3_ENST00000431467.1_Intron|ING3_ENST00000445699.1_3'UTR NM_019071.2 NP_061944.2 Q9NXR8 ING3_HUMAN inhibitor of growth family, member 3 NA NA chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|positive regulation of apoptotic process (GO:0043065)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)|Swr1 complex (GO:0000812) methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270) NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1) 12 all_neural(327;0.117) TGAACAAGTACGTGTAAGTAA 0.348 NA c||| 14 0.00279553 0.0 0.0 5008 , , NA 18681 0.0139 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF074968 CCDS5778.1, CCDS35497.1 7q31 2013-01-28 ENSG00000071243 ENSG00000071243 54556 Zinc fingers, PHD-type 14587 protein-coding gene gene with protein product 607493 NA 12080476 Standard NM_019071 NM_019071 NA Approved p47ING3, FLJ20089, Eaf4, MEAF4 uc003vjn.3 Q9NXR8 OTTHUMG00000141270 ENST00000315870.5:c.267+791C>T chr7.hg19:g.120596469C>T NA A8K790|O60394|Q567P3|Q6GMT3|Q7Z762|Q969G0|Q96DT4|Q9HC99|Q9P081 hg19 CCDS5778.1 0.02 6.381253 GTAxGTG COVERED NOVEL ING3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000280453.2 4 13.240098 KEEP 0 0 0 44 1506 CC 1 1 0 + 10 60 341 0 0 22.39127 159 70 5579 263 ENST00000315870.5 0.059172 1 ING3 54556 __UNKNOWN__ __UNKNOWN__ 7 120610898 120610898 __UNKNOWN__ Silent SNP C C T rs533525322 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:120610898C>T ENST00000315870.5 + 10 1213 c.1065C>T c.(1063-1065)taC>taT p.Y355Y ING3_ENST00000431467.1_Silent_p.Y340Y NM_019071.2 NP_061944.2 Q9NXR8 ING3_HUMAN inhibitor of growth family, member 3 355 NA chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|positive regulation of apoptotic process (GO:0043065)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)|Swr1 complex (GO:0000812) methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270) NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1) 12 all_neural(327;0.117) ATTGGACTTACGACCCAAATG 0.338 NA C||| 4 0.000798722 0.0 0.0 5008 , , NA 17455 0.004 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 89 77 81 NA NA 7 NA 120610898 2203 4300 6503 SO:0001819 synonymous_variant AF074968 CCDS5778.1, CCDS35497.1 7q31 2013-01-28 ENSG00000071243 ENSG00000071243 54556 Zinc fingers, PHD-type 14587 protein-coding gene gene with protein product 607493 NA 12080476 Standard NM_019071 NM_019071 NA Approved p47ING3, FLJ20089, Eaf4, MEAF4 uc003vjn.3 Q9NXR8 OTTHUMG00000141270 ENST00000315870.5:c.1065C>T chr7.hg19:g.120610898C>T NA A8K790|O60394|Q567P3|Q6GMT3|Q7Z762|Q969G0|Q96DT4|Q9HC99|Q9P081 hg19 CCDS5778.1 0.02 11.012683 TTAxGAC COVERED NOVEL ING3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000280453.2 4 7.655648 KEEP 0 1 33 37 1182 CC 1 1 0 + 14 60 526 0 0 34.972535 274 60 9073 357 ENST00000315870.5 0.048611 1 CPED1 79974 __UNKNOWN__ __UNKNOWN__ 7 120629226 120629226 __UNKNOWN__ Intron SNP T T C rs2525738 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:120629226T>C ENST00000310396.5 + 2 236 NM_024913.4 NP_079189.4 A4D0V7 CPED1_HUMAN cadherin-like and PC-esterase domain containing 1 NA NA endoplasmic reticulum (GO:0005783) NA GCACTTTGGGTTTTAATCTTT 0.438 NA T||| 849 0.169529 0.2761 0.1138 5008 , , NA 20524 0.0714 NA 0.2197 False NA ,,, NA NA NA 2504 0.1145 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS34739.1, CCDS47690.1 7q31.31 2012-06-12 2012-06-12 2012-06-12 ENSG00000106034 ENSG00000106034 79974 26159 protein-coding gene gene with protein product chromosome 7 open reading frame 58 C7orf58 NA 20056006 Standard NM_024913 NM_024913 NA Approved FLJ21986 uc003vjq.4 A4D0V7 OTTHUMG00000156982 ENST00000310396.5:c.-231-219T>C chr7.hg19:g.120629226T>C NA A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9 hg19 CCDS34739.1 0.02 4.382125 GGGxTTT COVERED NOVEL CPED1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000346959.1 0 25.83756 KEEP 0 0 0 86 2632 TT 1 1 0 + 5 60 192 0 0 12.284614 131 60 4588 272 ENST00000310396.5 0.036765 1 PTPRZ1 5803 __UNKNOWN__ __UNKNOWN__ 7 121636647 121636647 __UNKNOWN__ Intron SNP T T C rs7795588 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:121636647T>C ENST00000449182.1 + 9 1252 PTPRZ1_ENST00000393386.2_Intron NM_001206839.1 NP_001193768.1 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 NA NA axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445) integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578) protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001) NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 TTGTTTTACATAGGGTAACAT 0.353 NA T||| 524 0.104633 0.1377 0.0793 5008 , , NA 13736 0.1677 NA 0.0895 False NA ,,, NA NA NA 2504 0.0286 NA NA NA NA 0 T ,, 572,3834 253.0+/-259.1 39,494,1670 92 91 91 ,, -0.3 0 7 dbSNP_116 91 973,7627 210.7+/-251.5 60,853,3387 no intron,intron,intron PTPRZ1 NM_001206838.1,NM_001206839.1,NM_002851.2 ,, 99,1347,5057 CC,CT,TT 11.314,12.9823,11.8791 ,, ,, 121636647 1545,11461 2203 4300 6503 SO:0001627 intron_variant M93426 CCDS34740.1, CCDS56505.1 7q31.3 2013-02-11 ENSG00000106278 ENSG00000106278 5803 Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Fibronectin type III domain containing 9685 protein-coding gene gene with protein product 176891 PTPZ, PTPRZ NA 7736789, 8387522 Standard NM_002851 NM_001206838 NA Approved PTP18, RPTPB, phosphacan uc003vjy.3 P23471 OTTHUMG00000157057 ENST00000449182.1:c.1113+27T>C chr7.hg19:g.121636647T>C NA A4D0W5|C9JFM0|O76043|Q9UDR6 hg19 CCDS56505.1 0.02 6.487817 ACAxAGG COVERED NOVEL PTPRZ1-002 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000347289.1 1 5.414841 KEEP 0 0 0 18 538 TT 0.999859 0.999859 0 + 8 60 301 0 0 19.498017 183 60 6438 225 ENST00000449182.1 0.041885 1 PTPRZ1 5803 __UNKNOWN__ __UNKNOWN__ 7 121653177 121653177 __UNKNOWN__ Intron SNP A A G rs61732006 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:121653177A>G ENST00000449182.1 + 12 2402 PTPRZ1_ENST00000483028.1_3'UTR|PTPRZ1_ENST00000393386.2_Silent_p.T1359T NM_001206839.1 NP_001193768.1 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 NA NA axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445) integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578) protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001) NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 CTTCTGATACATTTGTATCTA 0.378 NA A||| 528 0.105431 0.1528 0.0562 5008 , , NA 22427 0.2093 NA 0.0557 False NA ,,, NA NA NA 2504 0.0204 NA NA NA NA 0 A ,, 698,3708 292.7+/-282.2 63,572,1568 179 179 179 ,,4077 -1.4 0 7 dbSNP_129 179 650,7950 165.9+/-218.0 23,604,3673 no intron,intron,coding-synonymous PTPRZ1 NM_001206838.1,NM_001206839.1,NM_002851.2 ,, 86,1176,5241 GG,GA,AA 7.5581,15.842,10.3644 ,, ,,1359/2316 121653177 1348,11658 2203 4300 6503 SO:0001627 intron_variant M93426 CCDS34740.1, CCDS56505.1 7q31.3 2013-02-11 ENSG00000106278 ENSG00000106278 5803 Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Fibronectin type III domain containing 9685 protein-coding gene gene with protein product 176891 PTPZ, PTPRZ NA 7736789, 8387522 Standard NM_002851 NM_001206838 NA Approved PTP18, RPTPB, phosphacan uc003vjy.3 P23471 OTTHUMG00000157057 ENST00000449182.1:c.2263+1814A>G chr7.hg19:g.121653177A>G NA A4D0W5|C9JFM0|O76043|Q9UDR6 hg19 CCDS56505.1 0.02 14.096061 TACxTTT COVERED NOVEL PTPRZ1-002 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000347289.1 3 8.425959 KEEP 0 0 0 28 897 AA 0.999997 0.999997 0 + 19 60 647 0 0 41.576622 337 60 12491 458 ENST00000449182.1 0.053371 1 PTPRZ1 5803 __UNKNOWN__ __UNKNOWN__ 7 121653250 121653250 __UNKNOWN__ Intron SNP G G A rs61732005 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:121653250G>A ENST00000449182.1 + 12 2402 PTPRZ1_ENST00000483028.1_3'UTR|PTPRZ1_ENST00000393386.2_Missense_Mutation_p.D1384N NM_001206839.1 NP_001193768.1 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 NA NA axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445) integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578) protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001) NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 TCCCCACAGAGATGGTTCTGT 0.438 NA G||| 393 0.0784744 0.0567 0.0447 5008 , , NA 22228 0.2093 NA 0.0557 False NA ,,, NA NA NA 2504 0.0204 NA NA NA NA 0 G ,,ASN/ASP 342,4064 179.4+/-207.9 9,324,1870 169 160 163 ,,4150 3.3 0 7 dbSNP_129 163 646,7954 165.5+/-217.6 23,600,3677 yes intron,intron,missense PTPRZ1 NM_001206838.1,NM_001206839.1,NM_002851.2 ,,23 32,924,5547 AA,AG,GG 7.5116,7.7621,7.5965 ,,benign ,,1384/2316 121653250 988,12018 2203 4300 6503 SO:0001627 intron_variant M93426 CCDS34740.1, CCDS56505.1 7q31.3 2013-02-11 ENSG00000106278 ENSG00000106278 5803 Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Fibronectin type III domain containing 9685 protein-coding gene gene with protein product 176891 PTPZ, PTPRZ NA 7736789, 8387522 Standard NM_002851 NM_001206838 NA Approved PTP18, RPTPB, phosphacan uc003vjy.3 P23471 OTTHUMG00000157057 ENST00000449182.1:c.2263+1887G>A chr7.hg19:g.121653250G>A NA A4D0W5|C9JFM0|O76043|Q9UDR6 hg19 CCDS56505.1 0.02 12.201984 AGAxATG COVERED 196 0.08974358974358974 21 0.042682926829268296 18 0.049723756906077346 117 0.20454545454545456 40 0.052770448548812667 G 12.01 1.808443 0.31961 0.077621 0.075116 ENSG00000106278 ENST00000393386 T 0.45276 0.9 5.1 3.29 0.37713 . 0.832539 0.10667 N 0.648025 T 0.00039 0.0001 L 0.31294 0.92 0.54753 P 1.0999999999983245E-5 B 0.06786 0.001 B 0.04013 0.001 T 0.08391 -1.0724 9 0.46703 T 0.11 . 7.9809 0.30183 0.1449:0.1332:0.7218:0.0 rs61732005 1384 P23471 PTPRZ_HUMAN N 1384 ENSP00000377047:D1384N ENSP00000377047:D1384N D + 1 0 PTPRZ1 121440486 0.861000 0.29849 0.007000 0.13788 0.897000 0.52465 3.354000 0.52254 0.732000 0.32470 0.555000 0.69702 GAT NOVEL PTPRZ1-002 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000347289.1 3 11.436824 KEEP 0 0 0 38 1346 GG 1 1 0 + 15 60 533 0 0 33.675239 330 60 12526 451 ENST00000449182.1 0.043478 1 FEZF1 389549 __UNKNOWN__ __UNKNOWN__ 7 121942920 121942920 __UNKNOWN__ Silent SNP A A G rs78309987 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:121942920A>G ENST00000442488.2 - 3 1069 c.1002T>C c.(1000-1002)caT>caC p.H334H FEZF1_ENST00000427185.2_Silent_p.H284H|FEZF1_ENST00000331178.4_Silent_p.H330H NM_001024613.2|NM_001160264.1 NP_001019784.2|NP_001153736.1 A0PJY2 FEZF1_HUMAN FEZ family zinc finger 1 334 NA axon guidance (GO:0007411)|forebrain anterior/posterior pattern specification (GO:0021797)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978) breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1) 25 GTATTCGGGTATGAGTGTTTA 0.408 NA A||| 17 0.00339457 0.0 0.0 5008 , , NA 19291 0.0169 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 120 118 119 NA NA 7 NA 121942920 2203 4300 6503 SO:0001819 synonymous_variant AY726588 CCDS34741.1, CCDS34741.2, CCDS55157.1 7q31.32 2013-01-08 2006-08-15 2006-08-15 ENSG00000128610 ENSG00000128610 389549 Zinc fingers, C2H2-type 22788 protein-coding gene gene with protein product 613301 zinc finger protein 312B ZNF312B NA Standard NM_001024613 NM_001024613 NA Approved uc003vkd.3 A0PJY2 OTTHUMG00000157091 ENST00000442488.2:c.1002T>C chr7.hg19:g.121942920A>G NA A0PJY3|A4D0W3|B4DUP9|B7ZM98 hg19 CCDS34741.2 0.02 17.287845 GGTxTGA COVERED NOVEL FEZF1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347410.1 1 22.26475 KEEP 0 0 0 74 2275 AA 1 1 0 - 14 60 528 1 0 32.631622 420 70 14773 649 ENST00000442488.2 0.032258 1 CADPS2 93664 __UNKNOWN__ __UNKNOWN__ 7 121960407 121960407 __UNKNOWN__ Intron SNP T T G rs1348442 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:121960407T>G ENST00000412584.2 - 28 3715 CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000313070.7_Intron NM_001009571.3 NP_001009571.2 Q86UW7 CAPS2_HUMAN Ca++-dependent secretion activator 2 NA NA cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082) cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734) lipid binding (GO:0008289)|metal ion binding (GO:0046872) breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2) 43 AGAAAGAAGATAAAATTTGCT 0.378 NA G||| 1880 0.375399 0.2632 0.4294 5008 , , NA 19130 0.4643 NA 0.3658 False NA ,,, NA NA NA 2504 0.407 NA NA NA NA 0 G ,, 1025,2675 129,767,954 126 118 121 ,, -5.7 0 7 dbSNP_88 121 3126,5068 584,1958,1555 no intron,intron,intron CADPS2 NM_001009571.3,NM_001167940.1,NM_017954.10 ,, 713,2725,2509 GG,GT,TT 38.1499,27.7027,34.8999 ,, ,, 121960407 4151,7743 1850 4097 5947 SO:0001627 intron_variant CCDS47691.1, CCDS55158.1 7q31.32 2013-01-10 2008-08-28 ENSG00000081803 ENSG00000081803 93664 Pleckstrin homology (PH) domain containing 16018 protein-coding gene gene with protein product 609978 Ca++-dependent activator protein for secretion 2 NA Standard NM_017954 NM_017954 NA Approved uc010lkq.3 Q86UW7 OTTHUMG00000157093 ENST00000412584.2:c.3595-15A>C chr7.hg19:g.121960407T>G NA A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8 hg19 CCDS47691.1 0.02 6.1761 AGAxAAA COVERED NOVEL CADPS2-002 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000347415.2 0 2.407634 KEEP 0 0 0 8 264 TT 0.99257 0.99257 0 - 6 60 223 0 0 13.728268 175 60 6236 193 ENST00000412584.2 0.033149 1 CADPS2 93664 __UNKNOWN__ __UNKNOWN__ 7 122047795 122047795 __UNKNOWN__ Intron SNP T T C rs75792974 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:122047795T>C ENST00000412584.2 - 18 2692 CADPS2_ENST00000334010.7_Intron|RP5-1101C3.1_ENST00000591140.1_RNA|CADPS2_ENST00000449022.2_Intron|RP5-1101C3.1_ENST00000593910.1_RNA|CADPS2_ENST00000313070.7_Intron NM_001009571.3 NP_001009571.2 Q86UW7 CAPS2_HUMAN Ca++-dependent secretion activator 2 NA NA cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082) cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734) lipid binding (GO:0008289)|metal ion binding (GO:0046872) breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2) 43 GATTACTTTTTAGAAACATGC 0.318 NA T||| 1 0.000199681 0.0 0.0 5008 , , NA 15902 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 23 21 21 NA NA 7 NA 122047795 1815 4072 5887 SO:0001627 intron_variant CCDS47691.1, CCDS55158.1 7q31.32 2013-01-10 2008-08-28 ENSG00000081803 ENSG00000081803 93664 Pleckstrin homology (PH) domain containing 16018 protein-coding gene gene with protein product 609978 Ca++-dependent activator protein for secretion 2 NA Standard NM_017954 NM_017954 NA Approved uc010lkq.3 Q86UW7 OTTHUMG00000157093 ENST00000412584.2:c.2572-45A>G chr7.hg19:g.122047795T>C NA A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8 hg19 CCDS47691.1 0.02 4.708039 TTTxAGA COVERED NOVEL CADPS2-002 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000347415.2 0 5.114071 KEEP 0 0 0 17 521 TT 0.999366 0.999366 0 - 5 60 190 0 0 12.137781 128 60 4537 162 ENST00000412584.2 0.037594 1 SLC13A1 6561 __UNKNOWN__ __UNKNOWN__ 7 122754172 122754172 __UNKNOWN__ 3'UTR SNP A A T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:122754172A>T ENST00000194130.2 - 0 3227 NM_022444.3 NP_071889.2 Q9BZW2 S13A1_HUMAN solute carrier family 13 (sodium/sulfate symporter), member 1 NA NA transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) sodium:sulfate symporter activity (GO:0015382) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 45 Succinic acid(DB00139) GCAAAGGTTTATTTTTTGCTT 0.388 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS5786.1 7q31.32 2013-07-18 2013-07-18 ENSG00000081800 ENSG00000081800 6561 Solute carriers 10916 protein-coding gene gene with protein product 606193 solute carrier family 13 (sodium/sulphate symporters), member 1 NA 11161786 Standard NM_022444 NM_022444 NA Approved NaSi-1, NAS1 uc003vkm.3 Q9BZW2 OTTHUMG00000157087 ENST00000194130.2:c.*1400T>A chr7.hg19:g.122754172A>T NA Q9H5Z0 hg19 CCDS5786.1 0.02 -0.407186 TTTxTTT COVERED NOVEL SLC13A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347404.1 7 5.036735 KEEP 0 0 0 17 467 AA 0.999366 0.941145 0 - 8 60 173 0 0 12.229553 35 60 1179 72 ENST00000194130.2 0.186047 0.941741 SLC13A1 6561 __UNKNOWN__ __UNKNOWN__ 7 122774603 122774603 __UNKNOWN__ Intron SNP C C A rs2470983 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:122774603C>A ENST00000194130.2 - 8 852 SLC13A1_ENST00000539873.1_Intron NM_022444.3 NP_071889.2 Q9BZW2 S13A1_HUMAN solute carrier family 13 (sodium/sulfate symporter), member 1 NA NA transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) sodium:sulfate symporter activity (GO:0015382) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 45 Succinic acid(DB00139) AACATGGAGACGTGTTCAGGG 0.483 NA C||| 1482 0.295927 0.5832 0.2176 5008 , , NA 18985 0.2054 NA 0.162 False NA ,,, NA NA NA 2504 0.1943 NA NA NA NA 0 C 2276,2130 598.1+/-389.0 605,1066,532 133 110 118 -7.6 0 7 dbSNP_100 118 1399,7201 271.2+/-289.4 99,1201,3000 no intron SLC13A1 NM_022444.3 704,2267,3532 AA,AC,CC 16.2674,48.3432,28.2562 122774603 3675,9331 2203 4300 6503 SO:0001627 intron_variant CCDS5786.1 7q31.32 2013-07-18 2013-07-18 ENSG00000081800 ENSG00000081800 6561 Solute carriers 10916 protein-coding gene gene with protein product 606193 solute carrier family 13 (sodium/sulphate symporters), member 1 NA 11161786 Standard NM_022444 NM_022444 NA Approved NaSi-1, NAS1 uc003vkm.3 Q9BZW2 OTTHUMG00000157087 ENST00000194130.2:c.813-20G>T chr7.hg19:g.122774603C>A NA Q9H5Z0 hg19 CCDS5786.1 0.02 8.285186 AGAxGTG COVERED NOVEL SLC13A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347404.1 3 7.558987 KEEP 0 1 31 36 1254 CC 1 1 0 - 7 60 258 0 0 15.319112 240 60 8324 358 ENST00000194130.2 0.02834 1 ASB15 142685 __UNKNOWN__ __UNKNOWN__ 7 123264804 123264804 __UNKNOWN__ Silent SNP C C T rs11769381 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:123264804C>T ENST00000451558.1 + 10 1154 c.633C>T c.(631-633)gtC>gtT p.V211V ASB15_ENST00000451215.1_Silent_p.V211V|ASB15_ENST00000540573.1_Silent_p.V211V|ASB15_ENST00000434204.1_Silent_p.V211V|ASB15_ENST00000275699.3_Silent_p.V211V|RP11-390E23.3_ENST00000440504.1_RNA Q8WXK1 ASB15_HUMAN ankyrin repeat and SOCS box containing 15 211 NA intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567) breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3) 12 GATTTGGAGTCACACCACTAG 0.483 NA OREG0018282 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) C||| 2352 0.469649 0.3033 0.4193 5008 , , NA 21132 0.5446 NA 0.4324 False NA ,,, NA NA NA 2504 0.6912 NA NA NA NA 0 C 1431,2975 466.6+/-354.6 237,957,1009 165 120 135 633 2.5 1 7 dbSNP_120 135 3901,4699 546.0+/-384.9 878,2145,1277 no coding-synonymous ASB15 NM_080928.3 1115,3102,2286 TT,TC,CC 45.3605,32.4784,40.9965 211/589 123264804 5332,7674 2203 4300 6503 SO:0001819 synonymous_variant AF403033 CCDS34742.1 7q31.31 2013-01-10 2011-01-25 ENSG00000146809 ENSG00000146809 142685 Ankyrin repeat domain containing 19767 protein-coding gene gene with protein product ankyrin repeat and SOCS box-containing 15 NA 12076535 Standard XM_005250149 NA Approved FLJ43370 uc003vkw.1 Q8WXK1 OTTHUMG00000157114 ENST00000451558.1:c.633C>T chr7.hg19:g.123264804C>T 1525 Q3ZCP3|Q3ZCP5|Q68D37 hg19 CCDS34742.1 0.02 7.457471 AGTxACA COVERED NOVEL ASB15-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347493.1 1 2.979542 KEEP 0 2 63 32 1116 CC 0.999998 0.999998 0 + 7 60 240 0 0 14.096453 198 60 7550 280 ENST00000451558.1 0.034146 1 LMOD2 442721 __UNKNOWN__ __UNKNOWN__ 7 123301940 123301940 __UNKNOWN__ Silent SNP A A G rs7809453 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:123301940A>G ENST00000458573.2 + 2 457 c.300A>G c.(298-300)gaA>gaG p.E100E LMOD2_ENST00000456238.2_Intron NM_207163.1 NP_997046.1 Q6P5Q4 LMOD2_HUMAN leiomodin 2 (cardiac) 100 Glu-rich. NA cytoskeleton (GO:0005856) NA AGGAAAGTGAAGAAGAGCTTA 0.373 NA G||| 2531 0.505391 0.3979 0.4337 5008 , , NA 18096 0.5575 NA 0.4414 False NA ,,, NA NA NA 2504 0.7137 NA NA NA NA 0 G 1354,2234 283,788,723 45 43 44 300 2.2 1 7 dbSNP_116 44 3444,4302 838,1768,1267 yes coding-synonymous LMOD2 NM_207163.1 1121,2556,1990 GG,GA,AA 44.4617,37.7369,42.3328 100/548 123301940 4798,6536 1794 3873 5667 SO:0001819 synonymous_variant AC006333 CCDS47693.1 7q31.32 2008-08-08 ENSG00000170807 ENSG00000170807 442721 6648 protein-coding gene gene with protein product 608006 NA Standard NM_207163 NA Approved uc003vky.2 Q6P5Q4 OTTHUMG00000157149 ENST00000458573.2:c.300A>G chr7.hg19:g.123301940A>G NA A4D0W9|A4D0Y2|Q8WVJ8 hg19 CCDS47693.1 0.02 9.529038 TGAxGAA COVERED 1025 0.4693223443223443 182 0.3699186991869919 178 0.49171270718232046 334 0.583916083916084 331 0.4366754617414248 G 9.145 1.014926 0.19355 0.377369 0.444617 ENSG00000170807 ENST00000332074 . . . 4.99 2.15 0.27550 . . . . . . . . . . . 0.09310 P 0.99999999871515 . . . . . . . . . . . . . . 4.7792 0.13194 0.4603:0.0:0.3965:0.1432 rs7809453;rs17621877;rs7809453 . . . . -1 . . . + . . LMOD2 123089176 0.987000 0.35691 0.996000 0.52242 0.992000 0.81027 0.254000 0.18314 -0.073000 0.12842 -0.186000 0.12905 . NOVEL LMOD2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000348525.1 2 4.650684 KEEP 0 1 36 28 928 AA 0.999997 0.999997 0 + 7 60 265 0 0 16.402959 211 60 7687 287 ENST00000458573.2 0.03211 1 WASL 8976 __UNKNOWN__ __UNKNOWN__ 7 123388732 123388732 __UNKNOWN__ Silent SNP G G A rs1054706 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:123388732G>A ENST00000223023.4 - 1 389 c.57C>T c.(55-57)tcC>tcT p.S19S NM_003941.2 NP_003932.3 O00401 WASL_HUMAN Wiskott-Aldrich syndrome-like 19 NA actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cellular protein complex localization (GO:0034629)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane budding (GO:0006900)|mitotic nuclear division (GO:0007067)|nitric oxide metabolic process (GO:0046209)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of filopodium assembly (GO:0051491)|protein complex assembly (GO:0006461)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|response to bacterium (GO:0009617)|small molecule metabolic process (GO:0044281)|spindle localization (GO:0051653)|transcription, DNA-templated (GO:0006351)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050) actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886) small GTPase regulator activity (GO:0005083) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 TGAGCAACAGGGACCCCACGT 0.667 NA G||| 2390 0.477236 0.2973 0.428 5008 , , NA 12049 0.5565 NA 0.4384 False NA ,,, NA NA NA 2504 0.7137 NA NA NA NA 0 G 1472,2934 460.5+/-352.6 265,942,996 43 40 41 57 2.8 1 7 dbSNP_129 41 4037,4563 543.2+/-384.4 943,2151,1206 no coding-synonymous WASL NM_003941.2 1208,3093,2202 AA,AG,GG 46.9419,33.409,42.3574 19/506 123388732 5509,7497 2203 4300 6503 SO:0001819 synonymous_variant D88460 CCDS34743.1 7q31.3 2008-02-01 ENSG00000106299 ENSG00000106299 8976 12735 protein-coding gene gene with protein product 605056 NA 9422512, 9322739 Standard NM_003941 NM_003941 NA Approved N-WASP, NWASP uc003vkz.3 O00401 OTTHUMG00000157346 ENST00000223023.4:c.57C>T chr7.hg19:g.123388732G>A NA A1JUI9|Q7Z746 hg19 CCDS34743.1 0.02 10.95303 CAGxGAC COVERED NOVEL WASL-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000348522.1 3 36.902432 KEEP 0 7 226 202 7119 GG 1 1 0 - 9 60 332 0 0 20.338461 263 60 9629 656 ENST00000223023.4 0.033088 1 POT1 25913 __UNKNOWN__ __UNKNOWN__ 7 124462655 124462655 __UNKNOWN__ 3'UTR SNP T T C rs76436625 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:124462655T>C ENST00000357628.3 - 0 3864 POT1_ENST00000393329.1_3'UTR NM_015450.2 NP_056265.2 Q9NUX5 POTE1_HUMAN protection of telomeres 1 NA NA DNA duplex unwinding (GO:0032508)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of DNA strand elongation (GO:0060383)|positive regulation of helicase activity (GO:0051096)|positive regulation of telomerase activity (GO:0051973)|positive regulation of telomere maintenance via telomerase (GO:0032212)|telomere capping (GO:0016233)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004) chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) DEAD/H-box RNA helicase binding (GO:0017151)|single-stranded telomeric DNA binding (GO:0043047)|telomerase inhibitor activity (GO:0010521) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 47 gagcacatcatcaacacggaa 0.363 NA T||| 807 0.161142 0.034 0.2334 5008 , , NA 17835 0.2014 NA 0.0924 False NA ,,, NA NA NA 2504 0.3108 NA NA NA Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK022580 CCDS5793.1 7q31.33 2013-01-21 2013-01-21 ENSG00000128513 ENSG00000128513 25913 17284 protein-coding gene gene with protein product 606478 protection of telomeres 1 homolog (S. pombe) NA 11349150, 12391173 Standard NR_003102 NA Approved hPot1, DKFZp586D211 uc003vlm.3 Q9NUX5 OTTHUMG00000157194 ENST00000357628.3:c.*1361A>G chr7.hg19:g.124462655T>C NA O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95 hg19 CCDS5793.1 0.02 25.434504 TCAxCAA COVERED NOVEL POT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347861.1 2 19.316381 KEEP 0 1 10 68 2166 TT 1 1 0 - 28 60 1030 0 0 67.581549 556 60 20245 798 ENST00000357628.3 0.047945 1 POT1 25913 __UNKNOWN__ __UNKNOWN__ 7 124492038 124492038 __UNKNOWN__ Intron SNP T T C rs7784168 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:124492038T>C ENST00000357628.3 - 11 1468 POT1_ENST00000393329.1_Intron NM_015450.2 NP_056265.2 Q9NUX5 POTE1_HUMAN protection of telomeres 1 NA NA DNA duplex unwinding (GO:0032508)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of DNA strand elongation (GO:0060383)|positive regulation of helicase activity (GO:0051096)|positive regulation of telomerase activity (GO:0051973)|positive regulation of telomere maintenance via telomerase (GO:0032212)|telomere capping (GO:0016233)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004) chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) DEAD/H-box RNA helicase binding (GO:0017151)|single-stranded telomeric DNA binding (GO:0043047)|telomerase inhibitor activity (GO:0010521) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 47 TCAAATTGCATAAAACAAAGT 0.289 NA T||| 1537 0.306909 0.326 0.3473 5008 , , NA 15737 0.2024 NA 0.2833 False NA ,,, NA NA NA 2504 0.3845 NA NA NA Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642) NA 0 T , 1445,2959 439.0+/-345.5 258,929,1015 30 29 29 , -1.3 0 7 dbSNP_116 29 2619,5973 399.9+/-346.6 400,1819,2077 no intron,intron POT1 NM_001042594.1,NM_015450.2 , 658,2748,3092 CC,CT,TT 30.4818,32.8111,31.2712 , , 124492038 4064,8932 2202 4296 6498 SO:0001627 intron_variant AK022580 CCDS5793.1 7q31.33 2013-01-21 2013-01-21 ENSG00000128513 ENSG00000128513 25913 17284 protein-coding gene gene with protein product 606478 protection of telomeres 1 homolog (S. pombe) NA 11349150, 12391173 Standard NR_003102 NA Approved hPot1, DKFZp586D211 uc003vlm.3 Q9NUX5 OTTHUMG00000157194 ENST00000357628.3:c.870-33A>G chr7.hg19:g.124492038T>C NA O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95 hg19 CCDS5793.1 0.02 -0.377006 GCAxAAA COVERED NOVEL POT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347861.1 0 2.407487 KEEP 0 0 0 8 258 TT 0.99257 0.902315 0 - 5 60 167 0 0 12.414023 38 60 1344 56 ENST00000357628.3 0.116279 0.909069 POT1 25913 __UNKNOWN__ __UNKNOWN__ 7 124533680 124533680 __UNKNOWN__ Intron SNP C C T rs4377885 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:124533680C>T ENST00000357628.3 - 6 608 POT1_ENST00000393329.1_Intron NM_015450.2 NP_056265.2 Q9NUX5 POTE1_HUMAN protection of telomeres 1 NA NA DNA duplex unwinding (GO:0032508)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of DNA strand elongation (GO:0060383)|positive regulation of helicase activity (GO:0051096)|positive regulation of telomerase activity (GO:0051973)|positive regulation of telomere maintenance via telomerase (GO:0032212)|telomere capping (GO:0016233)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004) chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) DEAD/H-box RNA helicase binding (GO:0017151)|single-stranded telomeric DNA binding (GO:0043047)|telomerase inhibitor activity (GO:0010521) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 47 gagaacgagtctgctgatatc 0.378 NA T||| 2912 0.58147 0.6445 0.5562 5008 , , NA 17908 0.5099 NA 0.5567 False NA ,,, NA NA NA 2504 0.6135 NA NA NA Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK022580 CCDS5793.1 7q31.33 2013-01-21 2013-01-21 ENSG00000128513 ENSG00000128513 25913 17284 protein-coding gene gene with protein product 606478 protection of telomeres 1 homolog (S. pombe) NA 11349150, 12391173 Standard NR_003102 NA Approved hPot1, DKFZp586D211 uc003vlm.3 Q9NUX5 OTTHUMG00000157194 ENST00000357628.3:c.10-1246G>A chr7.hg19:g.124533680C>T NA O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95 hg19 CCDS5793.1 0.02 12.66246 AGTxTGC COVERED NOVEL POT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347861.1 5 16.681325 KEEP 0 1 30 66 2313 CC 1 1 0 - 24 60 850 0 0 58.850791 314 60 11962 496 ENST00000357628.3 0.071006 1 POT1 25913 __UNKNOWN__ __UNKNOWN__ 7 124533740 124533740 __UNKNOWN__ Intron SNP C C T rs10954048 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:124533740C>T ENST00000357628.3 - 6 608 POT1_ENST00000393329.1_Intron NM_015450.2 NP_056265.2 Q9NUX5 POTE1_HUMAN protection of telomeres 1 NA NA DNA duplex unwinding (GO:0032508)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of DNA strand elongation (GO:0060383)|positive regulation of helicase activity (GO:0051096)|positive regulation of telomerase activity (GO:0051973)|positive regulation of telomere maintenance via telomerase (GO:0032212)|telomere capping (GO:0016233)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004) chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) DEAD/H-box RNA helicase binding (GO:0017151)|single-stranded telomeric DNA binding (GO:0043047)|telomerase inhibitor activity (GO:0010521) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 47 cctgaatttgcacatgcaacc 0.393 NA C||| 2913 0.581669 0.6445 0.5562 5008 , , NA 17797 0.5099 NA 0.5567 False NA ,,, NA NA NA 2504 0.6145 NA NA NA Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK022580 CCDS5793.1 7q31.33 2013-01-21 2013-01-21 ENSG00000128513 ENSG00000128513 25913 17284 protein-coding gene gene with protein product 606478 protection of telomeres 1 homolog (S. pombe) NA 11349150, 12391173 Standard NR_003102 NA Approved hPot1, DKFZp586D211 uc003vlm.3 Q9NUX5 OTTHUMG00000157194 ENST00000357628.3:c.10-1306G>A chr7.hg19:g.124533740C>T NA O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95 hg19 CCDS5793.1 0.02 17.714327 TTGxACA COVERED NOVEL POT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347861.1 5 16.822633 KEEP 0 2 63 78 2756 CC 1 1 0 - 22 60 805 0 0 53.792344 387 60 14781 595 ENST00000357628.3 0.05379 1 POT1 25913 __UNKNOWN__ __UNKNOWN__ 7 124540969 124540969 __UNKNOWN__ Intron SNP C C G rs7782525 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:124540969C>G ENST00000357628.3 - 4 446 POT1_ENST00000461288.1_Intron|POT1_ENST00000393329.1_Intron NM_015450.2 NP_056265.2 Q9NUX5 POTE1_HUMAN protection of telomeres 1 NA NA DNA duplex unwinding (GO:0032508)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of DNA strand elongation (GO:0060383)|positive regulation of helicase activity (GO:0051096)|positive regulation of telomerase activity (GO:0051973)|positive regulation of telomere maintenance via telomerase (GO:0032212)|telomere capping (GO:0016233)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004) chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) DEAD/H-box RNA helicase binding (GO:0017151)|single-stranded telomeric DNA binding (GO:0043047)|telomerase inhibitor activity (GO:0010521) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 47 acagcagtcccagattgaact 0.547 NA NA NA NA NA NA NA NA NA NA Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK022580 CCDS5793.1 7q31.33 2013-01-21 2013-01-21 ENSG00000128513 ENSG00000128513 25913 17284 protein-coding gene gene with protein product 606478 protection of telomeres 1 homolog (S. pombe) NA 11349150, 12391173 Standard NR_003102 NA Approved hPot1, DKFZp586D211 uc003vlm.3 Q9NUX5 OTTHUMG00000157194 ENST00000357628.3:c.153-2541G>C chr7.hg19:g.124540969C>G NA O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95 hg19 CCDS5793.1 0.02 -0.438668 TCCxAGA COVERED NOVEL POT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347861.1 1 7.524646 KEEP 0 0 0 25 894 CC 0.999931 0.959793 0 - 3 60 110 0 0 7.504773 47 60 1794 100 ENST00000357628.3 0.06 0.959859 GCC1 79571 __UNKNOWN__ __UNKNOWN__ 7 127222521 127222521 __UNKNOWN__ Silent SNP G G A rs33973710 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:127222521G>A ENST00000321407.2 - 2 2299 c.1875C>T c.(1873-1875)ggC>ggT p.G625G NM_024523.5 NP_078799.2 Q96CN9 GCC1_HUMAN GRIP and coiled-coil domain containing 1 625 NA protein targeting to Golgi (GO:0000042) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886) breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 CCCCAGGACCGCCACCACCCA 0.587 NA G||| 627 0.1252 0.208 0.121 5008 , , NA 20979 0.0417 NA 0.162 False NA ,,, NA NA NA 2504 0.0644 NA NA NA NA 0 G 906,3500 348.7+/-310.1 85,736,1382 78 79 79 1875 -1.8 0 7 dbSNP_126 79 1262,7338 251.2+/-277.8 97,1068,3135 no coding-synonymous GCC1 NM_024523.5 182,1804,4517 AA,AG,GG 14.6744,20.5629,16.6692 625/776 127222521 2168,10838 2203 4300 6503 SO:0001819 synonymous_variant AF525417 CCDS5796.1 7q22.3 2004-03-05 2003-10-17 ENSG00000179562 ENSG00000179562 79571 19095 protein-coding gene gene with protein product 607418 golgi coiled-coil 1 NA 10209125 Standard NM_024523 NM_024523 NA Approved FLJ22035, GCC88, GCC1P, MGC20706 uc003vma.3 Q96CN9 OTTHUMG00000023590 ENST00000321407.2:c.1875C>T chr7.hg19:g.127222521G>A NA Q9H6N7 hg19 CCDS5796.1 0.02 14.672004 ACCxCCA COVERED NOVEL GCC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000059911.3 2 34.601361 KEEP 0 0 0 115 3905 GG 1 1 0 - 12 60 389 0 0 21.963437 347 60 11965 585 ENST00000321407.2 0.033426 1 ARF5 381 __UNKNOWN__ __UNKNOWN__ 7 127231663 127231663 __UNKNOWN__ 3'UTR SNP T T G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:127231663T>G ENST00000000233.5 + 0 1007 GCC1_ENST00000497650.1_Intron|FSCN3_ENST00000478328.1_3'UTR NM_001662.3 NP_001653.1 P84085 ARF5_HUMAN ADP-ribosylation factor 5 NA NA GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192) extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886) GTP binding (GO:0005525)|GTPase activity (GO:0003924) cervix(2)|kidney(1)|lung(10)|ovary(1) 14 GGGTGTACTCTAGGGGCCAGG 0.527 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS34745.1 7q31.3 2008-07-18 ENSG00000004059 ENSG00000004059 381 ADP-ribosylation factors 658 protein-coding gene gene with protein product 103188 NA 1993656 Standard NM_001662 NM_001662 NA Approved uc003vmb.2 P84085 OTTHUMG00000023246 ENST00000000233.5:c.*310T>G chr7.hg19:g.127231663T>G NA P26437 hg19 CCDS34745.1 0.02 4.85721 CTCxAGG COVERED NOVEL ARF5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000059567.2 4 6.919486 KEEP 0 0 0 23 684 TT 0.999892 0.999889 0 + 5 60 191 0 0 12.537136 111 60 3992 173 ENST00000000233.5 0.043103 0.999997 PAX4 5078 __UNKNOWN__ __UNKNOWN__ 7 127253829 127253829 __UNKNOWN__ Silent SNP T T C rs327517 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:127253829T>C ENST00000341640.2 - 4 724 c.519A>G c.(517-519)caA>caG p.Q173Q PAX4_ENST00000338516.3_Silent_p.Q181Q|PAX4_ENST00000378740.2_Silent_p.Q173Q|PAX4_ENST00000463946.1_Silent_p.Q171Q NM_006193.2 NP_006184.2 O43316 PAX4_HUMAN paired box 4 181 NA cell differentiation (GO:0030154)|circadian rhythm (GO:0007623)|endocrine pancreas development (GO:0031018)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041) nucleoplasm (GO:0005654) DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206) cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 GTGCCTCTGCTTGGCTTGGGG 0.627 NA T||| 336 0.0670927 0.1891 0.0418 5008 , , NA 19841 0.0496 NA 0.002 False NA ,,, NA NA NA 2504 0.0051 NA NA NA Ovarian(113;737 1605 7858 27720 34092) NA 0 T 748,3658 305.2+/-288.9 68,612,1523 93 92 92 519 1.6 1 7 dbSNP_79 92 11,8589 7.1+/-27.0 0,11,4289 no coding-synonymous PAX4 NM_006193.2 68,623,5812 CC,CT,TT 0.1279,16.9768,5.8358 173/344 127253829 759,12247 2203 4300 6503 SO:0001819 synonymous_variant CCDS5797.1 7q32.1 2011-06-20 2007-07-12 ENSG00000106331 ENSG00000106331 5078 Paired boxes, Homeoboxes / PRD class 8618 protein-coding gene gene with protein product 167413 paired box gene 4 NA Standard NM_006193 NA Approved MODY9 uc010lld.1 O43316 OTTHUMG00000157562 ENST00000341640.2:c.519A>G chr7.hg19:g.127253829T>C NA O95161|Q6B0H0 hg19 CCDS5797.1 0.02 2.320735 TGCxTGG COVERED NOVEL PAX4-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000349165.1 0 4.512545 KEEP 0 0 0 15 453 TT 0.99649 0.99519 0 - 4 60 149 0 0 10.005333 72 60 2642 106 ENST00000341640.2 0.052632 0.998696 SND1 27044 __UNKNOWN__ __UNKNOWN__ 7 127637816 127637816 __UNKNOWN__ Intron SNP A A G rs17151639 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:127637816A>G ENST00000354725.3 + 16 1973 SND1_ENST00000467238.1_3'UTR NM_014390.2 NP_055205.2 Q7KZF4 SND1_HUMAN staphylococcal nuclease and tudor domain containing 1 NA NA gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032) cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442) nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712) central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 41 ctggcagttcaccatatatac 0.428 NA G||| 1164 0.232428 0.4592 0.2262 5008 , , NA 20966 0.0556 NA 0.2674 False NA ,,, NA NA NA 2504 0.0767 NA NA NA NA 0 G 1887,2519 630.2+/-395.4 409,1069,725 231 217 222 -2.8 0 7 dbSNP_123 222 2362,6238 702.3+/-405.3 334,1694,2272 no intron SND1 NM_014390.2 743,2763,2997 GG,GA,AA 27.4651,42.828,32.6695 127637816 4249,8757 2203 4300 6503 SO:0001627 intron_variant CCDS34747.1 7q31.3 2014-03-24 ENSG00000197157 ENSG00000197157 27044 Tudor domain containing 30646 protein-coding gene gene with protein product p100 EBNA2 co-activator, Tudor-SN 602181 NA 7651391, 9003410, 12819296 Standard NM_014390 NM_014390 NA Approved TDRD11, p100 uc003vmi.3 Q7KZF4 OTTHUMG00000157560 ENST00000354725.3:c.1779+6707A>G chr7.hg19:g.127637816A>G NA Q13122|Q96AG0 hg19 CCDS34747.1 0.02 18.313697 TTCxCCA COVERED NOVEL SND1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000349148.1 1 35.496984 KEEP 0 0 0 118 3680 AA 1 1 0 + 14 60 463 0 0 26.406659 439 60 15923 726 ENST00000354725.3 0.030905 1 SND1 27044 __UNKNOWN__ __UNKNOWN__ 7 127637857 127637857 __UNKNOWN__ Intron SNP T T C rs61743021 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:127637857T>C ENST00000354725.3 + 16 1973 SND1_ENST00000467238.1_3'UTR NM_014390.2 NP_055205.2 Q7KZF4 SND1_HUMAN staphylococcal nuclease and tudor domain containing 1 NA NA gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032) cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442) nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712) central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 41 atctctcaggtagacttacac 0.468 NA T||| 364 0.0726837 0.2057 0.0447 5008 , , NA 20667 0.0526 NA 0.004 False NA ,,, NA NA NA 2504 0.0041 NA NA NA NA 0 T 833,3573 329.9+/-301.2 76,681,1446 271 247 255 -1 0 7 dbSNP_129 255 9,8591 6.4+/-24.3 0,9,4291 no intron SND1 NM_014390.2 76,690,5737 CC,CT,TT 0.1047,18.906,6.4739 127637857 842,12164 2203 4300 6503 SO:0001627 intron_variant CCDS34747.1 7q31.3 2014-03-24 ENSG00000197157 ENSG00000197157 27044 Tudor domain containing 30646 protein-coding gene gene with protein product p100 EBNA2 co-activator, Tudor-SN 602181 NA 7651391, 9003410, 12819296 Standard NM_014390 NM_014390 NA Approved TDRD11, p100 uc003vmi.3 Q7KZF4 OTTHUMG00000157560 ENST00000354725.3:c.1779+6748T>C chr7.hg19:g.127637857T>C NA Q13122|Q96AG0 hg19 CCDS34747.1 0.02 20.216385 AGGxAGA COVERED NOVEL SND1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000349148.1 2 35.503574 KEEP 0 0 0 118 3626 TT 1 1 0 + 14 60 517 0 0 31.281725 439 60 15591 723 ENST00000354725.3 0.030905 1 IMPDH1 3614 __UNKNOWN__ __UNKNOWN__ 7 128049590 128049590 __UNKNOWN__ Intron SNP C C A rs2288552 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:128049590C>A ENST00000338791.6 - 2 497 IMPDH1_ENST00000354269.5_Intron|IMPDH1_ENST00000348127.6_Intron|IMPDH1_ENST00000419067.2_Intron|IMPDH1_ENST00000343214.4_Intron|IMPDH1_ENST00000378717.4_Intron NM_000883.3 NP_000874.2 IMP (inosine 5'-monophosphate) dehydrogenase 1 NA NA breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3) 22 TCCGCTCCCCCGTGCAACGAA 0.587 NA C||| 524 0.104633 0.0772 0.049 5008 , , NA 16387 0.2063 NA 0.0249 False NA ,,, NA NA NA 2504 0.1585 NA NA NA NA 0 C ,,, 201,2453 6,189,1132 181 197 191 ,,, -8.9 0 7 dbSNP_100 191 133,4485 3,127,2179 no intron,intron,intron,intron IMPDH1 NM_000883.3,NM_001102605.1,NM_001142576.1,NM_183243.2 ,,, 9,316,3311 AA,AC,CC 2.88,7.5735,4.593 ,,, ,,, 128049590 334,6938 1327 2309 3636 SO:0001627 intron_variant CCDS34748.1, CCDS34749.1, CCDS43643.1, CCDS47699.1, CCDS47700.1, CCDS55161.1 7q31.3-q32 2013-01-08 2010-04-29 ENSG00000106348 ENSG00000106348 3614 1.1.1.205 6052 protein-coding gene gene with protein product 146690 retinitis pigmentosa 10 (autosomal dominant), IMP (inosine monophosphate) dehydrogenase 1 RP10 NA 1969416, 11875049, 11875050 Standard NM_000883 NM_000883 NA Approved sWSS2608, LCA11 uc003vmu.2 P20839 OTTHUMG00000157713 ENST00000338791.6:c.147-52G>T chr7.hg19:g.128049590C>A NA hg19 CCDS34749.1 0.02 2.364562 CCCxGTG COVERED NOVEL IMPDH1-005 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000349458.1 0 13.541071 KEEP 0 0 0 45 1468 CC 1 0.997163 0 - 4 60 154 0 0 10.626146 67 60 2228 130 ENST00000338791.6 0.056338 0.997163 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 128095879 128095879 __UNKNOWN__ IGR SNP C C G rs386717715|rs2288555 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:128095879C>G NA NA RNU7-54P (12315 upstream) : RP11-212P7.3 (14 downstream) NA NA NA TGCGCGTACCCTCCTGGGGCG 0.721 NA C||| 616 0.123003 0.1384 0.0548 5008 , , NA 13040 0.2143 NA 0.0239 False NA ,,, NA NA NA 2504 0.1585 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.128095879C>G NA hg19 0.02 1.991474 ACCxTCC COVERED NOVEL 0 0 11.135395 KEEP 0 0 0 37 1270 CC 1 0.995686 0 8 60 267 0 0 19.824012 60 60 2191 120 0.117647 0.995687 RP11-212P7.3 0 __UNKNOWN__ __UNKNOWN__ 7 128102522 128102522 __UNKNOWN__ RNA SNP C C A rs146061361 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:128102522C>A ENST00000462662.1 + 0 184 RP11-155G14.6_ENST00000493710.1_RNA NA NA NA TGTGAGCTTGCTTTTCTCCAC 0.328 NA c||| 449 0.0896565 0.0151 0.0461 5008 , , NA 13348 0.2183 NA 0.0229 False NA ,,, NA NA NA 2504 0.1575 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000462662.1: chr7.hg19:g.128102522C>A NA hg19 0.02 -0.298296 TTGxTTT COVERED NOVEL RP11-212P7.3-001 KNOWN basic|readthrough_transcript processed_transcript NA processed_transcript OTTHUMT00000473060.1 1 4.514614 KEEP 0 0 0 15 544 CC 0.99649 0.778319 0 + 3 40 107 0 0 7.726084 31 60 1201 53 ENST00000462662.1 0.088235 0.78106 METTL2B 55798 __UNKNOWN__ __UNKNOWN__ 7 128117343 128117343 __UNKNOWN__ Intron SNP A A C rs2288558 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:128117343A>C ENST00000262432.8 + 2 239 RP11-212P7.3_ENST00000462662.1_RNA|METTL2B_ENST00000480046.1_Intron NM_018396.2 NP_060866.2 Q6P1Q9 MET2B_HUMAN methyltransferase like 2B NA NA tRNA methylation (GO:0030488) tRNA (cytosine) methyltransferase activity (GO:0016427) breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 CCTGATGCGGATCTCAGGAGT 0.537 NA A||| 442 0.0882588 0.0227 0.0476 5008 , , NA 15975 0.1984 NA 0.0239 False NA ,,, NA NA NA 2504 0.1585 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK002212 CCDS5803.2 7q32.2 2012-06-12 2006-02-09 2006-02-09 ENSG00000165055 ENSG00000165055 55798 18272 protein-coding gene gene with protein product 607846 methyltransferase like 2 METTL2 NA 11738826 Standard NM_018396 NM_018396 NA Approved METL, FLJ11350 uc003vnf.3 Q6P1Q9 OTTHUMG00000143738 ENST00000262432.8:c.202+116A>C chr7.hg19:g.128117343A>C NA B4DZ68|Q0IJ54|Q3B7J1 hg19 CCDS5803.2 0.02 2.285675 CGGxTCT COVERED NOVEL METTL2B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000289817.1 0 6.906429 KEEP 0 0 0 23 650 AA 0.999892 0.999111 0 + 8 60 300 0 0 22.525182 72 60 2586 107 ENST00000262432.8 0.1 0.999218 METTL2B 55798 __UNKNOWN__ __UNKNOWN__ 7 128119648 128119648 __UNKNOWN__ Intron SNP T T C rs2732418 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:128119648T>C ENST00000262432.8 + 3 595 RP11-212P7.3_ENST00000462662.1_RNA|METTL2B_ENST00000473488.1_Intron|METTL2B_ENST00000480046.1_Intron NM_018396.2 NP_060866.2 Q6P1Q9 MET2B_HUMAN methyltransferase like 2B NA NA tRNA methylation (GO:0030488) tRNA (cytosine) methyltransferase activity (GO:0016427) breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 AGGCTGACAATAAAAGTAACT 0.408 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK002212 CCDS5803.2 7q32.2 2012-06-12 2006-02-09 2006-02-09 ENSG00000165055 ENSG00000165055 55798 18272 protein-coding gene gene with protein product 607846 methyltransferase like 2 METTL2 NA 11738826 Standard NM_018396 NM_018396 NA Approved METL, FLJ11350 uc003vnf.3 Q6P1Q9 OTTHUMG00000143738 ENST00000262432.8:c.558+81T>C chr7.hg19:g.128119648T>C NA B4DZ68|Q0IJ54|Q3B7J1 hg19 CCDS5803.2 0.02 7.614548 CAAxAAA COVERED NOVEL METTL2B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000289817.1 2 6.018517 KEEP 7 0 0 20 635 TT 0.999863 0.999863 0 + 31 33 1183 0 0 98.474387 134 60 4716 197 ENST00000262432.8 0.187879 1 RP11-274B21.1 0 __UNKNOWN__ __UNKNOWN__ 7 128248198 128248198 __UNKNOWN__ RNA SNP G G A rs201811442 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:128248198G>A ENST00000605862.1 + 0 596 NA NA NA CCTCATCTACGGGATCTGGCA 0.453 NA G||| 552 0.110224 0.0257 0.1066 5008 , , NA 17956 0.1667 NA 0.1322 False NA ,,, NA NA NA 2504 0.1462 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000605862.1: chr7.hg19:g.128248198G>A NA hg19 0.02 6.769675 TACxGGA COVERED NOVEL RP11-274B21.1-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000468355.1 2 23.474675 KEEP 222 0 0 78 2657 GG 0.999892 0.999892 0 + 10 40 364 0 0 24.965223 149 40 4808 498 ENST00000605862.1 0.062893 1 FAM71F2 346653 __UNKNOWN__ __UNKNOWN__ 7 128312463 128312463 __UNKNOWN__ Missense_Mutation SNP C C G rs74343948 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:128312463C>G ENST00000480462.1 + 1 118 c.12C>G c.(10-12)atC>atG p.I4M FAM71F2_ENST00000378704.3_Missense_Mutation_p.I4M|FAM71F2_ENST00000460349.1_3'UTR|FAM71F2_ENST00000477515.1_Missense_Mutation_p.I4M Q6NXP2 F71F2_HUMAN family with sequence similarity 71, member F2 4 NA NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2) 7 TGAGTAAAATCAGGGGCCTCC 0.522 NA .||| 562 0.11222 0.034 0.1066 5008 , , NA 16667 0.1657 NA 0.1322 False NA ,,, NA NA NA 2504 0.1462 NA NA NA NA 0 C MET/ILE,MET/ILE 214,3556 11,192,1682 33 34 33 12,12 1.1 1 7 dbSNP_132 33 1243,6983 116,1011,2986 yes missense,missense FAM71F2 NM_001012454.3,NM_001128926.1 10,10 127,1203,4668 GG,GC,CC 15.1106,5.6764,12.1457 benign,benign 4/310,4/301 128312463 1457,10539 1885 4113 5998 SO:0001583 missense BC047310 CCDS47701.1, CCDS47702.1 7q32.1 2009-04-17 2007-11-20 2007-11-20 ENSG00000205085 ENSG00000205085 346653 27998 protein-coding gene gene with protein product family with sequence similarity 137, member B FAM137B NA 12477932 Standard XM_006715964 NA Approved uc003vnk.4 Q6NXP2 OTTHUMG00000158275 ENST00000480462.1:c.12C>G chr7.hg19:g.128312463C>G ENSP00000420140:p.Ile4Met NA Q0VGF6|Q0VGF7|Q86X39 hg19 CCDS47701.1 0.02 4.676292 AATxAGG COVERED 241 0.11034798534798534 26 0.052845528455284556 37 0.10220994475138122 90 0.15734265734265734 88 0.11609498680738786 C 16.28 3.080033 0.55753 0.056764 0.151106 ENSG00000205085 ENST00000474069;ENST00000480462;ENST00000378704;ENST00000434001;ENST00000477515 T;T;T;T;T 0.37411 3.01;3.01;3.01;3.01;1.2 4.86 1.13 0.20643 . 0.270429 0.26248 N 0.025467 T 0.00210 0.0006 L 0.57536 1.79 0.40727 P 0.017286000000000024 D;P 0.55385 0.971;0.952 P;P 0.57620 0.824;0.671 T 0.04440 -1.0951 9 0.33940 T 0.23 0.4287 7.1167 0.25421 0.0:0.2398:0.0:0.7602 . 4;4 Q6NXP2-2;Q6NXP2 .;F71F2_HUMAN M 4 ENSP00000418907:I4M;ENSP00000420140:I4M;ENSP00000367976:I4M;ENSP00000401654:I4M;ENSP00000419649:I4M ENSP00000367976:I4M I + 3 3 FAM71F2 128099699 0.998000 0.40836 0.974000 0.42286 0.897000 0.52465 0.156000 0.16382 0.092000 0.17331 -0.140000 0.14226 ATC NOVEL FAM71F2-001 KNOWN non_canonical_conserved|basic|CCDS protein_coding NA protein_coding OTTHUMT00000350537.1 1 8.426698 KEEP 0 0 0 28 954 CC 0.999997 0.999997 0 + 9 60 339 0 0 23.467481 139 60 5167 203 ENST00000480462.1 0.060811 1 FLNC 2318 __UNKNOWN__ __UNKNOWN__ 7 128480123 128480123 __UNKNOWN__ Silent SNP C C A rs2291563 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:128480123C>A ENST00000325888.8 + 9 1719 c.1458C>A c.(1456-1458)ccC>ccA p.P486P FLNC_ENST00000346177.6_Silent_p.P486P NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 486 NA cell junction assembly (GO:0034329) costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528) ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092) biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 GCCTGCAGCCCAAGGGTGTTC 0.637 NA C||| 982 0.196086 0.3578 0.1282 5008 , , NA 20015 0.3125 NA 0.0199 False NA ,,, NA NA NA 2504 0.0869 NA NA NA NA 0 C , 1144,2808 169,806,1001 101 114 110 1458,1458 4.4 1 7 dbSNP_100 110 149,8155 0,149,4003 no coding-synonymous,coding-synonymous FLNC NM_001127487.1,NM_001458.4 , 169,955,5004 AA,AC,CC 1.7943,28.9474,10.5499 , 486/2693,486/2726 128480123 1293,10963 1976 4152 6128 SO:0001819 synonymous_variant AB208865 CCDS43644.1, CCDS47705.1 7q32-q35 2014-09-17 2009-07-23 ENSG00000128591 ENSG00000128591 2318 3756 protein-coding gene gene with protein product actin binding protein 280 102565 filamin C, gamma (actin binding protein 280) FLN2 NA 7689010, 8088838 Standard NM_001458 NA Approved ABP-280, ABPL uc003vnz.4 Q14315 OTTHUMG00000023627 ENST00000325888.8:c.1458C>A chr7.hg19:g.128480123C>A NA B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503 hg19 CCDS43644.1 0.02 10.317636 GCCxAAG COVERED NOVEL FLNC-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000059948.3 0 33.409373 KEEP 0 0 0 111 4038 CC 1 1 0 + 10 60 362 0 0 21.956356 289 60 10884 532 ENST00000325888.8 0.033445 1 FLNC 2318 __UNKNOWN__ __UNKNOWN__ 7 128480791 128480791 __UNKNOWN__ Intron SNP C C G rs386717734|rs2291564 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:128480791C>G ENST00000325888.8 + 10 1937 FLNC_ENST00000346177.6_Intron NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma NA NA cell junction assembly (GO:0034329) costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528) ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092) biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 ACGAGGGGCACTGGGCTGCGA 0.657 NA G||| 1493 0.298123 0.4667 0.1744 5008 , , NA 17616 0.4018 NA 0.1143 False NA ,,, NA NA NA 2504 0.2403 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB208865 CCDS43644.1, CCDS47705.1 7q32-q35 2014-09-17 2009-07-23 ENSG00000128591 ENSG00000128591 2318 3756 protein-coding gene gene with protein product actin binding protein 280 102565 filamin C, gamma (actin binding protein 280) FLN2 NA 7689010, 8088838 Standard NM_001458 NA Approved ABP-280, ABPL uc003vnz.4 Q14315 OTTHUMG00000023627 ENST00000325888.8:c.1676+63C>G chr7.hg19:g.128480791C>G NA B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503 hg19 CCDS43644.1 0.02 9.041835 GCAxTGG COVERED NOVEL FLNC-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000059948.3 1 12.620724 KEEP 0 0 0 42 1459 CC 1 1 0 + 15 60 565 0 0 39.610413 214 60 7958 297 ENST00000325888.8 0.065502 1 FLNC 2318 __UNKNOWN__ __UNKNOWN__ 7 128482440 128482440 __UNKNOWN__ Intron SNP C C G rs2291566 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:128482440C>G ENST00000325888.8 + 14 2526 FLNC_ENST00000346177.6_Intron NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma NA NA cell junction assembly (GO:0034329) costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528) ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092) biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 TGCGTCCTCCCGGCCTGCCCC 0.672 NA OREG0018297 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) C||| 1339 0.267372 0.4425 0.1628 5008 , , NA 13765 0.379 NA 0.0497 False NA ,,, NA NA NA 2504 0.2137 NA NA NA NA 0 C , 1523,2629 291,941,844 42 50 47 , -4.7 0 7 dbSNP_100 47 432,7956 7,418,3769 no intron,intron FLNC NM_001127487.1,NM_001458.4 , 298,1359,4613 GG,GC,CC 5.1502,36.6811,15.5901 , , 128482440 1955,10585 2076 4194 6270 SO:0001627 intron_variant AB208865 CCDS43644.1, CCDS47705.1 7q32-q35 2014-09-17 2009-07-23 ENSG00000128591 ENSG00000128591 2318 3756 protein-coding gene gene with protein product actin binding protein 280 102565 filamin C, gamma (actin binding protein 280) FLN2 NA 7689010, 8088838 Standard NM_001458 NA Approved ABP-280, ABPL uc003vnz.4 Q14315 OTTHUMG00000023627 ENST00000325888.8:c.2265+12C>G chr7.hg19:g.128482440C>G 1565 B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503 hg19 CCDS43644.1 0.02 7.120716 TCCxGGC COVERED NOVEL FLNC-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000059948.3 1 11.433302 KEEP 0 0 0 38 1217 CC 1 1 0 + 10 60 364 0 0 25.140758 143 60 4765 220 ENST00000325888.8 0.065359 1 FLNC 2318 __UNKNOWN__ __UNKNOWN__ 7 128484816 128484816 __UNKNOWN__ Silent SNP A A G rs3734973 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:128484816A>G ENST00000325888.8 + 21 3558 c.3297A>G c.(3295-3297)gtA>gtG p.V1099V FLNC_ENST00000346177.6_Silent_p.V1099V NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 1099 NA cell junction assembly (GO:0034329) costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528) ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092) biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 GGCTGACCGTAGAGGGCCCCT 0.637 NA G||| 1903 0.379992 0.6082 0.2248 5008 , , NA 19215 0.4891 NA 0.1551 False NA ,,, NA NA NA 2504 0.3006 NA NA NA NA 0 G , 2140,1996 574,992,502 57 66 63 3297,3297 2.7 1 7 dbSNP_107 63 1392,7054 94,1204,2925 yes coding-synonymous,coding-synonymous FLNC NM_001127487.1,NM_001458.4 , 668,2196,3427 GG,GA,AA 16.4812,48.2592,28.0718 , 1099/2693,1099/2726 128484816 3532,9050 2068 4223 6291 SO:0001819 synonymous_variant AB208865 CCDS43644.1, CCDS47705.1 7q32-q35 2014-09-17 2009-07-23 ENSG00000128591 ENSG00000128591 2318 3756 protein-coding gene gene with protein product actin binding protein 280 102565 filamin C, gamma (actin binding protein 280) FLN2 NA 7689010, 8088838 Standard NM_001458 NA Approved ABP-280, ABPL uc003vnz.4 Q14315 OTTHUMG00000023627 ENST00000325888.8:c.3297A>G chr7.hg19:g.128484816A>G NA B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503 hg19 CCDS43644.1 0.02 14.072801 CGTxGAG COVERED NOVEL FLNC-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000059948.3 0 22.265348 KEEP 0 0 0 74 2273 AA 1 1 0 + 17 60 608 0 0 40.250556 296 60 10557 480 ENST00000325888.8 0.054313 1 FLNC 2318 __UNKNOWN__ __UNKNOWN__ 7 128486363 128486363 __UNKNOWN__ Silent SNP C C T rs34373805 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:128486363C>T ENST00000325888.8 + 23 4234 c.3973C>T c.(3973-3975)Ctg>Ttg p.L1325L FLNC_ENST00000346177.6_Silent_p.L1325L NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 1325 NA cell junction assembly (GO:0034329) costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528) ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092) biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 AGGCGTGCATCTGGTGGAGGT 0.667 NA T||| 1733 0.346046 0.6006 0.2291 5008 , , NA 15949 0.4335 NA 0.1511 False NA ,,, NA NA NA 2504 0.1953 NA NA NA NA 0 T , 2227,2011 597,1033,489 38 49 45 3973,3973 -3.1 0.4 7 dbSNP_126 45 1370,7076 109,1152,2962 no coding-synonymous,coding-synonymous FLNC NM_001127487.1,NM_001458.4 , 706,2185,3451 TT,TC,CC 16.2207,47.4516,28.3586 , 1325/2693,1325/2726 128486363 3597,9087 2119 4223 6342 SO:0001819 synonymous_variant AB208865 CCDS43644.1, CCDS47705.1 7q32-q35 2014-09-17 2009-07-23 ENSG00000128591 ENSG00000128591 2318 3756 protein-coding gene gene with protein product actin binding protein 280 102565 filamin C, gamma (actin binding protein 280) FLN2 NA 7689010, 8088838 Standard NM_001458 NA Approved ABP-280, ABPL uc003vnz.4 Q14315 OTTHUMG00000023627 ENST00000325888.8:c.3973C>T chr7.hg19:g.128486363C>T NA B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503 hg19 CCDS43644.1 0.02 10.613558 CATxTGG COVERED NOVEL FLNC-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000059948.3 4 12.940998 KEEP 0 0 0 43 1497 CC 1 1 0 + 17 60 600 0 0 40.079035 271 60 10078 417 ENST00000325888.8 0.059028 1 FLNC 2318 __UNKNOWN__ __UNKNOWN__ 7 128486446 128486446 __UNKNOWN__ Silent SNP C C T rs75770585 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:128486446C>T ENST00000325888.8 + 23 4317 c.4056C>T c.(4054-4056)cgC>cgT p.R1352R FLNC_ENST00000346177.6_Silent_p.R1352R NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 1352 NA cell junction assembly (GO:0034329) costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528) ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092) biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 ATCCCACCCGCGTCCGAGCCT 0.622 NA C||| 804 0.160543 0.2012 0.1354 5008 , , NA 17535 0.3234 NA 0.0328 False NA ,,, NA NA NA 2504 0.0869 NA NA NA NA 0 C , 661,3489 60,541,1474 47 55 53 4056,4056 -10.1 0 7 dbSNP_131 53 337,8063 4,329,3867 no coding-synonymous,coding-synonymous FLNC NM_001127487.1,NM_001458.4 , 64,870,5341 TT,TC,CC 4.0119,15.9277,7.9522 , 1352/2693,1352/2726 128486446 998,11552 2075 4200 6275 SO:0001819 synonymous_variant AB208865 CCDS43644.1, CCDS47705.1 7q32-q35 2014-09-17 2009-07-23 ENSG00000128591 ENSG00000128591 2318 3756 protein-coding gene gene with protein product actin binding protein 280 102565 filamin C, gamma (actin binding protein 280) FLN2 NA 7689010, 8088838 Standard NM_001458 NA Approved ABP-280, ABPL uc003vnz.4 Q14315 OTTHUMG00000023627 ENST00000325888.8:c.4056C>T chr7.hg19:g.128486446C>T NA B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503 hg19 CCDS43644.1 0.02 12.98671 CCGxGTC COVERED NOVEL FLNC-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000059948.3 1 19.559687 KEEP 0 0 0 65 2241 CC 1 1 0 + 19 60 673 0 0 44.976452 305 60 10696 482 ENST00000325888.8 0.058642 1 FLNC 2318 __UNKNOWN__ __UNKNOWN__ 7 128487893 128487893 __UNKNOWN__ Silent SNP G G A rs2291568 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:128487893G>A ENST00000325888.8 + 25 4692 c.4431G>A c.(4429-4431)ctG>ctA p.L1477L FLNC_ENST00000346177.6_Silent_p.L1477L NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 1477 NA cell junction assembly (GO:0034329) costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528) ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092) biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 GGGCGCCCCTGCAGGTGGCTG 0.692 NA G||| 1291 0.257788 0.4228 0.1556 5008 , , NA 15695 0.378 NA 0.0358 False NA ,,, NA NA NA 2504 0.2117 NA NA NA NA 0 G , 1352,2470 260,832,819 41 49 47 4431,4431 3.2 1 7 dbSNP_100 47 356,7870 5,346,3762 no coding-synonymous,coding-synonymous FLNC NM_001127487.1,NM_001458.4 , 265,1178,4581 AA,AG,GG 4.3277,35.3741,14.1766 , 1477/2693,1477/2726 128487893 1708,10340 1911 4113 6024 SO:0001819 synonymous_variant AB208865 CCDS43644.1, CCDS47705.1 7q32-q35 2014-09-17 2009-07-23 ENSG00000128591 ENSG00000128591 2318 3756 protein-coding gene gene with protein product actin binding protein 280 102565 filamin C, gamma (actin binding protein 280) FLN2 NA 7689010, 8088838 Standard NM_001458 NA Approved ABP-280, ABPL uc003vnz.4 Q14315 OTTHUMG00000023627 ENST00000325888.8:c.4431G>A chr7.hg19:g.128487893G>A NA B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503 hg19 CCDS43644.1 0.02 4.237307 CCTxCAG COVERED NOVEL FLNC-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000059948.3 0 9.021712 KEEP 0 0 0 30 1041 GG 0.999997 0.999986 0 + 8 60 267 0 0 18.182284 99 60 3724 152 ENST00000325888.8 0.074766 0.999989 FLNC 2318 __UNKNOWN__ __UNKNOWN__ 7 128491603 128491603 __UNKNOWN__ Silent SNP T T C rs3816884 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:128491603T>C ENST00000325888.8 + 35 6024 c.5763T>C c.(5761-5763)acT>acC p.T1921T FLNC_ENST00000346177.6_Silent_p.T1888T|RP11-309L24.2_ENST00000469965.1_RNA NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 1921 NA cell junction assembly (GO:0034329) costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528) ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092) biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 ATCTGCCGACTGCGCCTGGAG 0.597 NA C||| 1447 0.288938 0.534 0.1671 5008 , , NA 20776 0.378 NA 0.0368 False NA ,,, NA NA NA 2504 0.2117 NA NA NA NA 0 C , 2036,2370 593.1+/-387.9 497,1042,664 95 111 105 5664,5763 -11.4 0 7 dbSNP_107 105 385,8215 798.7+/-407.4 7,371,3922 no coding-synonymous,coding-synonymous FLNC NM_001127487.1,NM_001458.4 , 504,1413,4586 CC,CT,TT 4.4767,46.2097,18.6145 , 1888/2693,1921/2726 128491603 2421,10585 2203 4300 6503 SO:0001819 synonymous_variant AB208865 CCDS43644.1, CCDS47705.1 7q32-q35 2014-09-17 2009-07-23 ENSG00000128591 ENSG00000128591 2318 3756 protein-coding gene gene with protein product actin binding protein 280 102565 filamin C, gamma (actin binding protein 280) FLN2 NA 7689010, 8088838 Standard NM_001458 NA Approved ABP-280, ABPL uc003vnz.4 Q14315 OTTHUMG00000023627 ENST00000325888.8:c.5763T>C chr7.hg19:g.128491603T>C NA B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503 hg19 CCDS43644.1 0.02 17.363997 GACxGCG COVERED NOVEL FLNC-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000059948.3 1 19.855145 KEEP 0 0 0 66 2037 TT 1 1 0 + 25 60 855 0 0 56.430547 390 60 14491 592 ENST00000325888.8 0.060241 1 FLNC 2318 __UNKNOWN__ __UNKNOWN__ 7 128495338 128495338 __UNKNOWN__ Silent SNP C C T rs3816885 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:128495338C>T ENST00000325888.8 + 43 7482 c.7221C>T c.(7219-7221)gaC>gaT p.D2407D FLNC_ENST00000346177.6_Silent_p.D2374D|RP11-309L24.2_ENST00000469965.1_RNA NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 2407 Interaction with INPPL1. NA cell junction assembly (GO:0034329) costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528) ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092) biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 TCTCGGATGACGCTCGCCGTC 0.587 NA C||| 1296 0.258786 0.4244 0.1571 5008 , , NA 18935 0.378 NA 0.0378 False NA ,,, NA NA NA 2504 0.2117 NA NA NA NA 0 C , 1551,2783 286,979,902 59 66 64 7122,7221 -10.6 0.1 7 dbSNP_107 64 374,8202 7,360,3921 no coding-synonymous,coding-synonymous FLNC NM_001127487.1,NM_001458.4 , 293,1339,4823 TT,TC,CC 4.361,35.7868,14.9109 , 2374/2693,2407/2726 128495338 1925,10985 2167 4288 6455 SO:0001819 synonymous_variant AB208865 CCDS43644.1, CCDS47705.1 7q32-q35 2014-09-17 2009-07-23 ENSG00000128591 ENSG00000128591 2318 3756 protein-coding gene gene with protein product actin binding protein 280 102565 filamin C, gamma (actin binding protein 280) FLN2 NA 7689010, 8088838 Standard NM_001458 NA Approved ABP-280, ABPL uc003vnz.4 Q14315 OTTHUMG00000023627 ENST00000325888.8:c.7221C>T chr7.hg19:g.128495338C>T NA B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503 hg19 CCDS43644.1 0.02 8.307048 TGAxGCT COVERED NOVEL FLNC-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000059948.3 1 14.439314 KEEP 0 0 0 48 1656 CC 1 1 0 + 7 60 251 0 0 14.952075 215 60 7490 348 ENST00000325888.8 0.031532 1 KCP 375616 __UNKNOWN__ __UNKNOWN__ 7 128527093 128527093 __UNKNOWN__ RNA SNP T T G rs11982744 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:128527093T>G ENST00000476647.2 - 0 2641 Q6ZWJ8 KCP_HUMAN kielin/chordin-like protein NA NA extracellular region (GO:0005576) central_nervous_system(1)|endometrium(3) 4 CTACTGAGCCTGCAGGGGCCC 0.627 NA T||| 2176 0.434505 0.6846 0.2939 5008 , , NA 16695 0.5377 NA 0.1918 False NA ,,, NA NA NA 2504 0.3395 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AK122706 7q32.3 2009-11-06 2009-02-18 2009-02-18 ENSG00000135253 ENSG00000135253 375616 17585 protein-coding gene gene with protein product kielin 609344 cysteine rich BMP regulator 2 (chordin-like) CRIM2 NA 15793581 Standard NM_199349 NM_001135914 NA Approved FLJ33365, NET67 uc011kor.2 Q6ZWJ8 OTTHUMG00000158363 ENST00000476647.2: chr7.hg19:g.128527093T>G NA Q8NBE0 hg19 0.02 13.121513 GCCxGCA COVERED NOVEL KCP-006 KNOWN basic processed_transcript NA processed_transcript OTTHUMT00000403051.1 1 10.530154 KEEP 0 0 0 35 1092 TT 0.999999 0.999999 0 - 17 60 572 0 0 36.529496 302 60 11092 420 ENST00000476647.2 0.053292 1 IRF5 3663 __UNKNOWN__ __UNKNOWN__ 7 128589427 128589427 __UNKNOWN__ 3'UTR SNP G G A rs10954213 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:128589427G>A ENST00000402030.2 + 0 2124 IRF5_ENST00000473745.1_3'UTR|IRF5_ENST00000249375.4_3'UTR NM_001098629.1|NM_001098630.1 NP_001092099.1|NP_001092100.1 Q13568 IRF5_HUMAN interferon regulatory factor 5 NA NA cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634) regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1) 15 TTGGATTAATGAATGTTAAAA 0.443 NA A||| 2684 0.535942 0.5129 0.4395 5008 , , NA 19436 0.4454 NA 0.6322 False NA ,,, NA NA NA 2504 0.6299 NA NA NA NA 0 GRCh37 CR072316 IRF5 R rs10954213 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS5808.1, CCDS43645.1, CCDS56512.1 7q32 2008-07-18 ENSG00000128604 ENSG00000128604 3663 6120 protein-coding gene gene with protein product 607218 NA Standard NM_001098627 XM_005250317 NA Approved uc003vog.3 Q13568 OTTHUMG00000158410 ENST00000402030.2:c.*555G>A chr7.hg19:g.128589427G>A NA A4D1J8|A8DUA8|A8DUA9|E7EQ16|E7EW54|Q1A7B4|Q64GA9|Q64GB1|Q64GB2|Q6RCM8|Q9BQF0 hg19 CCDS5808.1 0.02 6.325327 AATxAAT COVERED NOVEL IRF5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000350934.1 1 8.427172 KEEP 0 0 0 28 968 GG 0.999997 0.999997 0 + 14 60 490 0 0 34.911853 150 60 5670 219 ENST00000402030.2 0.085366 1 IRF5 3663 __UNKNOWN__ __UNKNOWN__ 7 128589488 128589488 __UNKNOWN__ 3'UTR SNP G G A rs11770589 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:128589488G>A ENST00000402030.2 + 0 2185 IRF5_ENST00000249375.4_3'UTR NM_001098629.1|NM_001098630.1 NP_001092099.1|NP_001092100.1 Q13568 IRF5_HUMAN interferon regulatory factor 5 NA NA cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634) regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1) 15 CTCCCATGCTGCTCCACCAGG 0.498 NA G||| 2271 0.453474 0.4198 0.3602 5008 , , NA 17880 0.4435 NA 0.5318 False NA ,,, NA NA NA 2504 0.4949 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS5808.1, CCDS43645.1, CCDS56512.1 7q32 2008-07-18 ENSG00000128604 ENSG00000128604 3663 6120 protein-coding gene gene with protein product 607218 NA Standard NM_001098627 XM_005250317 NA Approved uc003vog.3 Q13568 OTTHUMG00000158410 ENST00000402030.2:c.*616G>A chr7.hg19:g.128589488G>A NA A4D1J8|A8DUA8|A8DUA9|E7EQ16|E7EW54|Q1A7B4|Q64GA9|Q64GB1|Q64GB2|Q6RCM8|Q9BQF0 hg19 CCDS5808.1 0.02 6.094172 GCTxCTC COVERED NOVEL IRF5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000350934.1 2 9.932366 KEEP 0 0 0 33 1183 GG 0.999998 0.999998 0 + 9 60 315 0 0 20.328655 169 60 6421 269 ENST00000402030.2 0.050562 1 TNPO3 23534 __UNKNOWN__ __UNKNOWN__ 7 128599823 128599823 __UNKNOWN__ Intron SNP C C T rs74573030 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:128599823C>T ENST00000482320.1 - 23 3195 TNPO3_ENST00000471234.1_Intron|TNPO3_ENST00000471166.1_Intron|TNPO3_ENST00000393245.1_Intron|TNPO3_ENST00000265388.5_Intron Q9Y5L0 TNPO3_HUMAN transportin 3 NA NA splicing factor protein import into nucleus (GO:0035048) cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634) receptor activity (GO:0004872) central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3) 22 cacctgtaatcgcagcacttt 0.517 NA C||| 398 0.0794728 0.0477 0.0461 5008 , , NA 18197 0.0833 NA 0.1123 False NA ,,, NA NA NA 2504 0.1084 NA NA NA Pancreas(147;583 2585 39696 52331) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF145029 CCDS5809.1, CCDS55162.1 7q32.2 2014-02-03 ENSG00000064419 ENSG00000064419 23534 Importins 17103 protein-coding gene gene with protein product importin 12 610032 limb girdle muscular dystrophy 1F (autosomal dominant) LGMD1F NA 10366588, 10713112, 23543484, 23667635 Standard NM_012470 NM_012470 NA Approved TRN-SR, MTR10A, TRN-SR2, IPO12 uc003vol.2 Q9Y5L0 OTTHUMG00000158409 ENST00000482320.1:c.2514-2454G>A chr7.hg19:g.128599823C>T NA A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2 hg19 0.02 -0.052637 AATxGCA UNCOVERED NOVEL TNPO3-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000350930.2 1 2.407616 KEEP 0 0 0 8 269 CC 0.99257 0.036492 0 - 2 60 71 0 0 6.592763 3 60 113 15 ENST00000482320.1 0.4 0.036766 TNPO3 23534 __UNKNOWN__ __UNKNOWN__ 7 128607384 128607384 __UNKNOWN__ Silent SNP G G A rs8043 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:128607384G>A ENST00000482320.1 - 22 3144 c.2463C>T c.(2461-2463)gcC>gcT p.A821A TNPO3_ENST00000471234.1_Silent_p.A823A|TNPO3_ENST00000471166.1_Silent_p.A921A|TNPO3_ENST00000393245.1_Silent_p.A921A|TNPO3_ENST00000265388.5_Silent_p.A887A Q9Y5L0 TNPO3_HUMAN transportin 3 887 NA splicing factor protein import into nucleus (GO:0035048) cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634) receptor activity (GO:0004872) central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3) 22 TCACTGTGACGGCTCCCACGG 0.438 NA G||| 2388 0.476837 0.5061 0.366 5008 , , NA 19398 0.4425 NA 0.5318 False NA ,,, NA NA NA 2504 0.4949 NA NA NA Pancreas(147;583 2585 39696 52331) NA 0 G , 2198,2208 588.0+/-386.8 545,1108,550 170 146 154 2469,2661 -7.2 0.9 7 dbSNP_52 154 4443,4157 588.3+/-392.3 1124,2195,981 no coding-synonymous,coding-synonymous TNPO3 NM_001191028.2,NM_012470.3 , 1669,3303,1531 AA,AG,GG 48.3372,49.8865,48.939 , 823/860,887/924 128607384 6641,6365 2203 4300 6503 SO:0001819 synonymous_variant AF145029 CCDS5809.1, CCDS55162.1 7q32.2 2014-02-03 ENSG00000064419 ENSG00000064419 23534 Importins 17103 protein-coding gene gene with protein product importin 12 610032 limb girdle muscular dystrophy 1F (autosomal dominant) LGMD1F NA 10366588, 10713112, 23543484, 23667635 Standard NM_012470 NM_012470 NA Approved TRN-SR, MTR10A, TRN-SR2, IPO12 uc003vol.2 Q9Y5L0 OTTHUMG00000158409 ENST00000482320.1:c.2463C>T chr7.hg19:g.128607384G>A NA A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2 hg19 0.02 4.704731 GACxGCT COVERED NOVEL TNPO3-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000350930.2 0 11.400169 KEEP 0 0 0 38 1254 GG 1 0.999999 0 - 8 60 307 0 0 21.69581 114 60 3910 205 ENST00000482320.1 0.065574 0.999999 TNPO3 23534 __UNKNOWN__ __UNKNOWN__ 7 128630313 128630313 __UNKNOWN__ Intron SNP T T C rs6969930 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:128630313T>C ENST00000482320.1 - 12 1842 TNPO3_ENST00000471234.1_Intron|TNPO3_ENST00000471166.1_Intron|TNPO3_ENST00000393245.1_Intron|TNPO3_ENST00000265388.5_Intron Q9Y5L0 TNPO3_HUMAN transportin 3 NA NA splicing factor protein import into nucleus (GO:0035048) cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634) receptor activity (GO:0004872) central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3) 22 TTTTCAAATCTTCAAAAAAGA 0.343 NA C||| 2754 0.54992 0.5658 0.4409 5008 , , NA 20873 0.4444 NA 0.6292 False NA ,,, NA NA NA 2504 0.6329 NA NA NA Pancreas(147;583 2585 39696 52331) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF145029 CCDS5809.1, CCDS55162.1 7q32.2 2014-02-03 ENSG00000064419 ENSG00000064419 23534 Importins 17103 protein-coding gene gene with protein product importin 12 610032 limb girdle muscular dystrophy 1F (autosomal dominant) LGMD1F NA 10366588, 10713112, 23543484, 23667635 Standard NM_012470 NM_012470 NA Approved TRN-SR, MTR10A, TRN-SR2, IPO12 uc003vol.2 Q9Y5L0 OTTHUMG00000158409 ENST00000482320.1:c.1161-159A>G chr7.hg19:g.128630313T>C NA A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2 hg19 0.02 1.959597 ATCxTCA COVERED NOVEL TNPO3-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000350930.2 0 3.611017 KEEP 0 0 0 12 384 TT 0.993634 0.993124 0 - 4 60 154 0 0 10.347333 79 60 2835 103 ENST00000482320.1 0.048193 0.999487 TNPO3 23534 __UNKNOWN__ __UNKNOWN__ 7 128641226 128641226 __UNKNOWN__ Silent SNP G G C rs2305324 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:128641226G>C ENST00000482320.1 - 7 1242 c.561C>G c.(559-561)ctC>ctG p.L187L TNPO3_ENST00000471234.1_Silent_p.L253L|TNPO3_ENST00000471166.1_Silent_p.L253L|TNPO3_ENST00000393245.1_Silent_p.L253L|TNPO3_ENST00000265388.5_Silent_p.L253L Q9Y5L0 TNPO3_HUMAN transportin 3 253 NA splicing factor protein import into nucleus (GO:0035048) cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634) receptor activity (GO:0004872) central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3) 22 CAATGGCATAGAGAGCTGAGC 0.488 NA G||| 1712 0.341853 0.1218 0.3199 5008 , , NA 18821 0.3988 NA 0.4801 False NA ,,, NA NA NA 2504 0.454 NA NA NA Pancreas(147;583 2585 39696 52331) NA 0 G , 773,3633 314.7+/-293.7 63,647,1493 269 231 244 759,759 -1.9 1 7 dbSNP_100 244 4060,4540 559.5+/-387.4 940,2180,1180 no coding-synonymous,coding-synonymous TNPO3 NM_001191028.2,NM_012470.3 , 1003,2827,2673 CC,CG,GG 47.2093,17.5443,37.1598 , 253/860,253/924 128641226 4833,8173 2203 4300 6503 SO:0001819 synonymous_variant AF145029 CCDS5809.1, CCDS55162.1 7q32.2 2014-02-03 ENSG00000064419 ENSG00000064419 23534 Importins 17103 protein-coding gene gene with protein product importin 12 610032 limb girdle muscular dystrophy 1F (autosomal dominant) LGMD1F NA 10366588, 10713112, 23543484, 23667635 Standard NM_012470 NM_012470 NA Approved TRN-SR, MTR10A, TRN-SR2, IPO12 uc003vol.2 Q9Y5L0 OTTHUMG00000158409 ENST00000482320.1:c.561C>G chr7.hg19:g.128641226G>C NA A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2 hg19 0.02 8.742011 ATAxAGA COVERED NOVEL TNPO3-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000350930.2 1 6.69511 KEEP 0 2 77 49 1712 GG 1 1 0 - 11 60 412 0 0 27.290645 218 60 8365 341 ENST00000482320.1 0.048035 1 TNPO3 23534 __UNKNOWN__ __UNKNOWN__ 7 128674666 128674666 __UNKNOWN__ Intron SNP A A G rs6467223 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:128674666A>G ENST00000482320.1 - 2 604 TNPO3_ENST00000471234.1_Intron|TNPO3_ENST00000471166.1_Intron|TNPO3_ENST00000393245.1_Intron|TNPO3_ENST00000265388.5_Intron Q9Y5L0 TNPO3_HUMAN transportin 3 NA NA splicing factor protein import into nucleus (GO:0035048) cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634) receptor activity (GO:0004872) central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3) 22 ctgcgaggccaggcgcggtgg 0.478 NA G||| 3003 0.599641 0.5779 0.4669 5008 , , NA 17212 0.5387 NA 0.6869 False NA ,,, NA NA NA 2504 0.6963 NA NA NA Pancreas(147;583 2585 39696 52331) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF145029 CCDS5809.1, CCDS55162.1 7q32.2 2014-02-03 ENSG00000064419 ENSG00000064419 23534 Importins 17103 protein-coding gene gene with protein product importin 12 610032 limb girdle muscular dystrophy 1F (autosomal dominant) LGMD1F NA 10366588, 10713112, 23543484, 23667635 Standard NM_012470 NM_012470 NA Approved TRN-SR, MTR10A, TRN-SR2, IPO12 uc003vol.2 Q9Y5L0 OTTHUMG00000158409 ENST00000482320.1:c.77+6944T>C chr7.hg19:g.128674666A>G NA A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2 hg19 0.02 -0.078941 GCCxGGC UNCOVERED NOVEL TNPO3-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000350930.2 1 2.407719 KEEP 0 0 0 8 268 AA 0.99257 0.076761 0 - 4 60 136 0 0 12.822955 5 60 172 20 ENST00000482320.1 0.444444 0.077336 TNPO3 23534 __UNKNOWN__ __UNKNOWN__ 7 128674681 128674681 __UNKNOWN__ Intron SNP C C T rs145696656 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:128674681C>T ENST00000482320.1 - 2 604 TNPO3_ENST00000471234.1_Intron|TNPO3_ENST00000471166.1_Intron|TNPO3_ENST00000393245.1_Intron|TNPO3_ENST00000265388.5_Intron Q9Y5L0 TNPO3_HUMAN transportin 3 NA NA splicing factor protein import into nucleus (GO:0035048) cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634) receptor activity (GO:0004872) central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3) 22 cggtggctcacgcctgtaatc 0.498 NA C||| 249 0.0497204 0.0129 0.0259 5008 , , NA 16468 0.0933 NA 0.0557 False NA ,,, NA NA NA 2504 0.0654 NA NA NA Pancreas(147;583 2585 39696 52331) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF145029 CCDS5809.1, CCDS55162.1 7q32.2 2014-02-03 ENSG00000064419 ENSG00000064419 23534 Importins 17103 protein-coding gene gene with protein product importin 12 610032 limb girdle muscular dystrophy 1F (autosomal dominant) LGMD1F NA 10366588, 10713112, 23543484, 23667635 Standard NM_012470 NM_012470 NA Approved TRN-SR, MTR10A, TRN-SR2, IPO12 uc003vol.2 Q9Y5L0 OTTHUMG00000158409 ENST00000482320.1:c.77+6929G>A chr7.hg19:g.128674681C>T NA A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2 hg19 0.02 -0.061288 TCAxGCC UNCOVERED NOVEL TNPO3-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000350930.2 2 3.31078 KEEP 1 0 0 11 392 CC 0.992708 0.043467 0 - 4 60 119 0 0 11.719066 3 60 108 22 ENST00000482320.1 0.571429 0.043787 SMO 6608 __UNKNOWN__ __UNKNOWN__ 7 128852381 128852381 __UNKNOWN__ 3'UTR SNP C C T rs2075780 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:128852381C>T ENST00000249373.3 + 0 2733 RP11-286H14.8_ENST00000466717.1_RNA NM_005631.4 NP_005622.1 Q99835 SMO_HUMAN smoothened, frizzled class receptor NA NA adenohypophysis development (GO:0021984)|anterior/posterior pattern specification (GO:0009952)|atrial septum morphogenesis (GO:0060413)|axon extension involved in axon guidance (GO:0048846)|canonical Wnt signaling pathway (GO:0060070)|cardioblast differentiation (GO:0010002)|cell fate specification (GO:0001708)|cellular response to cholesterol (GO:0071397)|central nervous system neuron differentiation (GO:0021953)|cerebellar cortex morphogenesis (GO:0021696)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|detection of cell density by contact stimulus involved in contact inhibition (GO:0060248)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|epithelial-mesenchymal cell signaling (GO:0060684)|exocrine pancreas development (GO:0031017)|facial nerve development (GO:0021561)|floor plate formation (GO:0021508)|forebrain morphogenesis (GO:0048853)|gonad development (GO:0008406)|hair follicle morphogenesis (GO:0031069)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal to epithelial transition involved in metanephric renal vesicle formation (GO:0072285)|midgut development (GO:0007494)|multicellular organism growth (GO:0035264)|muscle cell fate commitment (GO:0042693)|myoblast migration (GO:0051451)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of gene expression (GO:0010629)|negative regulation of hair follicle development (GO:0051799)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate commitment (GO:0048663)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|otolith morphogenesis (GO:0032474)|pancreas morphogenesis (GO:0061113)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of heart morphogenesis (GO:2000826)|regulation of stem cell maintenance (GO:2000036)|renal system development (GO:0072001)|semicircular canal morphogenesis (GO:0048752)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021910)|somite development (GO:0061053)|spermatogenesis (GO:0007283)|thalamus development (GO:0021794)|type B pancreatic cell development (GO:0003323)|vasculogenesis (GO:0001570)|ventral midline determination (GO:0007371) ciliary membrane (GO:0060170)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|primary cilium (GO:0072372) drug binding (GO:0008144)|G-protein coupled receptor activity (GO:0004930)|patched binding (GO:0005113)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147) biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Fluocinonide(DB01047)|Vismodegib(DB08828) CCTAGGATCCCGTCTTCCAGA 0.552 NA Mis skin basal cell C||| 926 0.184904 0.1384 0.1729 5008 , , NA 21378 0.2371 NA 0.1571 False NA ,,, NA NA NA 2504 0.2311 NA NA NA Dom yes 7 7q31-q32 6608 smoothened homolog (Drosophila) E 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U84401 CCDS5811.1 7q32.1 2014-01-29 2014-01-29 2003-01-17 ENSG00000128602 ENSG00000128602 6608 GPCR / Class F : Frizzled receptors 11119 protein-coding gene gene with protein product frizzled family member 11 601500 smoothened (Drosophila) homolog, smoothened homolog (Drosophila), smoothened, seven transmembrane spanning receptor, smoothened, frizzled family receptor SMOH NA 9628830 Standard NM_005631 NM_005631 NA Approved FZD11 uc003vor.3 Q99835 OTTHUMG00000158421 ENST00000249373.3:c.*89C>T chr7.hg19:g.128852381C>T NA A4D1K5 hg19 CCDS5811.1 0.02 13.390132 TCCxGTC COVERED NOVEL SMO-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000350986.1 4 19.859699 KEEP 0 0 0 66 2208 CC 1 1 0 + 12 60 439 0 0 27.179963 323 60 11141 496 ENST00000249373.3 0.035821 1 SMO 6608 __UNKNOWN__ __UNKNOWN__ 7 128853123 128853123 __UNKNOWN__ 3'UTR SNP A A G rs1061280 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:128853123A>G ENST00000249373.3 + 0 3475 RP11-286H14.8_ENST00000466717.1_RNA NM_005631.4 NP_005622.1 Q99835 SMO_HUMAN smoothened, frizzled class receptor NA NA adenohypophysis development (GO:0021984)|anterior/posterior pattern specification (GO:0009952)|atrial septum morphogenesis (GO:0060413)|axon extension involved in axon guidance (GO:0048846)|canonical Wnt signaling pathway (GO:0060070)|cardioblast differentiation (GO:0010002)|cell fate specification (GO:0001708)|cellular response to cholesterol (GO:0071397)|central nervous system neuron differentiation (GO:0021953)|cerebellar cortex morphogenesis (GO:0021696)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|detection of cell density by contact stimulus involved in contact inhibition (GO:0060248)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|epithelial-mesenchymal cell signaling (GO:0060684)|exocrine pancreas development (GO:0031017)|facial nerve development (GO:0021561)|floor plate formation (GO:0021508)|forebrain morphogenesis (GO:0048853)|gonad development (GO:0008406)|hair follicle morphogenesis (GO:0031069)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal to epithelial transition involved in metanephric renal vesicle formation (GO:0072285)|midgut development (GO:0007494)|multicellular organism growth (GO:0035264)|muscle cell fate commitment (GO:0042693)|myoblast migration (GO:0051451)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of gene expression (GO:0010629)|negative regulation of hair follicle development (GO:0051799)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate commitment (GO:0048663)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|otolith morphogenesis (GO:0032474)|pancreas morphogenesis (GO:0061113)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of heart morphogenesis (GO:2000826)|regulation of stem cell maintenance (GO:2000036)|renal system development (GO:0072001)|semicircular canal morphogenesis (GO:0048752)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021910)|somite development (GO:0061053)|spermatogenesis (GO:0007283)|thalamus development (GO:0021794)|type B pancreatic cell development (GO:0003323)|vasculogenesis (GO:0001570)|ventral midline determination (GO:0007371) ciliary membrane (GO:0060170)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|primary cilium (GO:0072372) drug binding (GO:0008144)|G-protein coupled receptor activity (GO:0004930)|patched binding (GO:0005113)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147) biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Fluocinonide(DB01047)|Vismodegib(DB08828) AAGATGCATCATCTCTTCCTC 0.557 NA Mis skin basal cell A||| 943 0.188299 0.1664 0.1671 5008 , , NA 17392 0.2371 NA 0.1451 False NA ,,, NA NA NA 2504 0.227 NA NA NA Dom yes 7 7q31-q32 6608 smoothened homolog (Drosophila) E 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U84401 CCDS5811.1 7q32.1 2014-01-29 2014-01-29 2003-01-17 ENSG00000128602 ENSG00000128602 6608 GPCR / Class F : Frizzled receptors 11119 protein-coding gene gene with protein product frizzled family member 11 601500 smoothened (Drosophila) homolog, smoothened homolog (Drosophila), smoothened, seven transmembrane spanning receptor, smoothened, frizzled family receptor SMOH NA 9628830 Standard NM_005631 NM_005631 NA Approved FZD11 uc003vor.3 Q99835 OTTHUMG00000158421 ENST00000249373.3:c.*831A>G chr7.hg19:g.128853123A>G NA A4D1K5 hg19 CCDS5811.1 0.02 6.261746 ATCxTCT COVERED NOVEL SMO-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000350986.1 2 9.628551 KEEP 0 0 0 32 987 AA 0.999997 0.999997 0 + 6 60 216 0 0 12.853688 188 60 6866 266 ENST00000249373.3 0.030928 1 AHCYL2 23382 __UNKNOWN__ __UNKNOWN__ 7 128865130 128865130 __UNKNOWN__ Silent SNP C C T rs4731565 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:128865130C>T ENST00000325006.3 + 1 267 c.213C>T c.(211-213)gcC>gcT p.A71A AHCYL2_ENST00000446544.2_Silent_p.A71A NM_001130720.2|NM_015328.3 NP_001124192.1|NP_056143.1 Q96HN2 SAHH3_HUMAN adenosylhomocysteinase-like 2 71 NA one-carbon metabolic process (GO:0006730) adenosylhomocysteinase activity (GO:0004013) breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 22 ggcccgccgccgcTCTCAGCC 0.806 NA C||| 1500 0.299521 0.2769 0.281 5008 , , NA 6013 0.375 NA 0.3082 False NA ,,, NA NA NA 2504 0.2566 NA NA NA Pancreas(160;1736 1964 29875 40941 45605) NA 0 1 1 1 NA NA 7 NA 128865130 562 1480 2042 SO:0001819 synonymous_variant AB020635 CCDS5812.1, CCDS47706.1, CCDS47707.1, CCDS47708.1, CCDS47707.2 7q32.1 2009-06-12 2009-06-12 ENSG00000158467 ENSG00000158467 23382 22204 protein-coding gene gene with protein product S-adenosylhomocysteine hydrolase-like 2 NA Standard NM_001130720 NA Approved KIAA0828 uc011kov.2 Q96HN2 OTTHUMG00000157677 ENST00000325006.3:c.213C>T chr7.hg19:g.128865130C>T NA B4DIZ5|D9N155|O94917 hg19 CCDS5812.1 0.02 -0.385948 CGCxGCT COVERED NOVEL AHCYL2-012 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000354065.1 0 11.434093 KEEP 0 0 0 38 1222 CC 1 0.918171 0 + 3 60 108 0 0 7.476827 41 60 1337 114 ENST00000325006.3 0.068182 0.918171 AHCYL2 23382 __UNKNOWN__ __UNKNOWN__ 7 129015511 129015511 __UNKNOWN__ Intron SNP G G A rs1000676 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:129015511G>A ENST00000325006.3 + 2 417 AHCYL2_ENST00000531335.2_Intron|AHCYL2_ENST00000474594.1_Intron|AHCYL2_ENST00000446212.1_Intron|AHCYL2_ENST00000446544.2_Intron|AHCYL2_ENST00000490911.1_5'UTR NM_001130720.2|NM_015328.3 NP_001124192.1|NP_056143.1 Q96HN2 SAHH3_HUMAN adenosylhomocysteinase-like 2 NA NA one-carbon metabolic process (GO:0006730) adenosylhomocysteinase activity (GO:0004013) breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 22 TAACAGAAATGCCTTATTAAA 0.458 NA G||| 1648 0.329073 0.0295 0.3746 5008 , , NA 18659 0.6052 NA 0.3907 False NA ,,, NA NA NA 2504 0.3538 NA NA NA Pancreas(160;1736 1964 29875 40941 45605) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB020635 CCDS5812.1, CCDS47706.1, CCDS47707.1, CCDS47708.1, CCDS47707.2 7q32.1 2009-06-12 2009-06-12 ENSG00000158467 ENSG00000158467 23382 22204 protein-coding gene gene with protein product S-adenosylhomocysteine hydrolase-like 2 NA Standard NM_001130720 NA Approved KIAA0828 uc011kov.2 Q96HN2 OTTHUMG00000157677 ENST00000325006.3:c.364-3968G>A chr7.hg19:g.129015511G>A NA B4DIZ5|D9N155|O94917 hg19 CCDS5812.1 0.02 3.95023 AATxCCT COVERED NOVEL AHCYL2-012 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000354065.1 1 3.847849 KEEP 0 1 32 24 865 GG 0.999931 0.999929 0 + 10 60 327 0 0 22.654481 107 60 4011 173 ENST00000325006.3 0.08547 0.999998 AHCYL2 23382 __UNKNOWN__ __UNKNOWN__ 7 129037029 129037029 __UNKNOWN__ Intron SNP G G C rs17168750 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:129037029G>C ENST00000325006.3 + 5 774 AHCYL2_ENST00000531335.2_Intron|AHCYL2_ENST00000474594.1_Intron|AHCYL2_ENST00000446212.1_Intron|AHCYL2_ENST00000446544.2_Intron|AHCYL2_ENST00000490911.1_Intron|AHCYL2_ENST00000472554.1_Intron NM_001130720.2|NM_015328.3 NP_001124192.1|NP_056143.1 Q96HN2 SAHH3_HUMAN adenosylhomocysteinase-like 2 NA NA one-carbon metabolic process (GO:0006730) adenosylhomocysteinase activity (GO:0004013) breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 22 GTTTGGCCCAGGCTTGCTCAT 0.443 NA G||| 1630 0.325479 0.0287 0.3775 5008 , , NA 18534 0.5933 NA 0.3897 False NA ,,, NA NA NA 2504 0.3476 NA NA NA Pancreas(160;1736 1964 29875 40941 45605) NA 0 G ,,, 385,4021 194.7+/-219.5 24,337,1842 64 63 64 ,,, 0.7 0 7 dbSNP_123 64 3009,5591 466.5+/-366.8 541,1927,1832 no intron,intron,intron,intron AHCYL2 NM_001130720.2,NM_001130722.2,NM_001130723.2,NM_015328.3 ,,, 565,2264,3674 CC,CG,GG 34.9884,8.7381,26.0956 ,,, ,,, 129037029 3394,9612 2203 4300 6503 SO:0001627 intron_variant AB020635 CCDS5812.1, CCDS47706.1, CCDS47707.1, CCDS47708.1, CCDS47707.2 7q32.1 2009-06-12 2009-06-12 ENSG00000158467 ENSG00000158467 23382 22204 protein-coding gene gene with protein product S-adenosylhomocysteine hydrolase-like 2 NA Standard NM_001130720 NA Approved KIAA0828 uc011kov.2 Q96HN2 OTTHUMG00000157677 ENST00000325006.3:c.721-34G>C chr7.hg19:g.129037029G>C NA B4DIZ5|D9N155|O94917 hg19 CCDS5812.1 0.02 8.362705 CCAxGCT COVERED NOVEL AHCYL2-012 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000354065.1 1 10.53454 KEEP 0 0 0 35 1278 GG 0.999999 0.999999 0 + 14 60 497 0 0 34.231901 190 60 7258 296 ENST00000325006.3 0.068627 1 SMKR1 100287482 __UNKNOWN__ __UNKNOWN__ 7 129152172 129152172 __UNKNOWN__ Missense_Mutation SNP G G A rs12673693 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:129152172G>A ENST00000462322.2 + 2 434 c.88G>A c.(88-90)Gcg>Acg p.A30T NM_001195243.1 NP_001182172.1 H3BMG3 SMKR1_HUMAN small lysine-rich protein 1 30 NA NA TCTCAGCCCCGCGGCCATGCT 0.522 NA G||| 10 0.00199681 0.0 0.0 5008 , , NA 18650 0.0099 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense BC035417, BC050400 CCDS59077.1 7q32.1 2012-12-11 2012-12-11 ENSG00000240204 ENSG00000240204 100287482 43561 protein-coding gene gene with protein product NA Standard NM_001195243 NM_001195243 NA Approved uc003voy.3 H3BMG3 OTTHUMG00000157696 ENST00000462322.2:c.88G>A chr7.hg19:g.129152172G>A ENSP00000454370:p.Ala30Thr NA hg19 CCDS59077.1 0.02 23.640004 CCCxCGG COVERED NOVEL SMKR1-001 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000349421.3 1 14.177836 KEEP 0 1 31 58 1983 GG 1 1 0 + 20 60 725 0 0 44.592942 541 60 19465 810 ENST00000462322.2 0.035651 1 NRF1 4899 __UNKNOWN__ __UNKNOWN__ 7 129395075 129395075 __UNKNOWN__ 3'UTR SNP G G A rs45578637 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:129395075G>A ENST00000393232.1 + 0 1683 NRF1_ENST00000311967.2_3'UTR|NRF1_ENST00000223190.4_3'UTR|NRF1_ENST00000353868.4_3'UTR|NRF1_ENST00000393231.3_3'UTR|NRF1_ENST00000393230.2_3'UTR NM_005011.3 NP_005002.3 Q16656 NRF1_HUMAN nuclear respiratory factor 1 NA NA cellular lipid metabolic process (GO:0044255)|generation of precursor metabolites and energy (GO:0006091)|mitochondrion organization (GO:0007005)|organ regeneration (GO:0031100)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654) RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077) breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1) 24 TTTTTTACACGTTTGCAGAGG 0.383 NA G||| 59 0.0117812 0.0008 0.0 5008 , , NA 16971 0.0565 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L22454 CCDS5813.2 7q32 2008-07-18 ENSG00000106459 ENSG00000106459 4899 7996 protein-coding gene gene with protein product alpha palindromic-binding protein 600879 NA 2584221 Standard NM_001040110 NM_005011 NA Approved EWG, ALPHA-PAL uc003voz.3 Q16656 OTTHUMG00000143736 ENST00000393232.1:c.*54G>A chr7.hg19:g.129395075G>A NA A8K4C6|B4DDV6|Q15305|Q96AN2 hg19 CCDS5813.2 0.02 12.090787 CACxTTT COVERED NOVEL NRF1-203 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000289813.1 3 13.378452 KEEP 0 1 33 56 1941 GG 1 1 0 + 11 60 390 0 0 23.249019 324 70 11633 476 ENST00000393232.1 0.032836 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 129803605 129803605 __UNKNOWN__ IGR SNP C C T rs72607771 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:129803605C>T NA NA RP11-775D22.2 (21150 upstream) : TMEM209 (949 downstream) NA NA NA ccgagatgggcggatcatgag 0.522 NA C||| 1418 0.283147 0.1505 0.2334 5008 , , NA 17466 0.5427 NA 0.1849 False NA ,,, NA NA NA 2504 0.3313 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.129803605C>T NA hg19 0.02 -0.026317 GGGxGGA UNCOVERED NOVEL 0 4 2.407662 KEEP 0 0 0 8 277 CC 0.99257 0 0 2 60 78 0 0 7.925203 1 60 29 13 0.666667 0 CPA1 1357 __UNKNOWN__ __UNKNOWN__ 7 130021488 130021488 __UNKNOWN__ Silent SNP G G C rs1126899 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:130021488G>C ENST00000011292.3 + 3 315 c.165G>C c.(163-165)ggG>ggC p.G55G CPA1_ENST00000484324.1_5'UTR NM_001868.2 NP_001859.1 P15085 CBPA1_HUMAN carboxypeptidase A1 (pancreatic) 55 NA proteolysis (GO:0006508) extracellular space (GO:0005615) metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270) endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1) 21 Melanoma(18;0.0435) TCTGGCGGGGGCCTGCCCACC 0.677 NA C||| 2916 0.582268 0.6611 0.5504 5008 , , NA 14677 0.621 NA 0.5467 False NA ,,, NA NA NA 2504 0.4949 NA NA NA NA 0 C 2828,1578 921,986,296 34 30 32 165 -0.2 0 7 dbSNP_86 32 4333,4265 1131,2071,1097 no coding-synonymous CPA1 NM_001868.2 2052,3057,1393 CC,CG,GG 49.6046,35.8148,44.9323 55/420 130021488 7161,5843 2203 4299 6502 SO:0001819 synonymous_variant CCDS5820.1 7q32 2012-02-10 ENSG00000091704 ENSG00000091704 1357 3.4.17.1 2296 protein-coding gene gene with protein product pancreatic carboxypeptidase A 114850 CPA NA Standard NM_001868 NM_001868 NA Approved uc003vpx.3 P15085 OTTHUMG00000157826 ENST00000011292.3:c.165G>C chr7.hg19:g.130021488G>C NA A4D1M1|Q53XU0|Q9BS67|Q9UCF2 hg19 CCDS5820.1 0.02 10.714492 GGGxCCT COVERED NOVEL CPA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000349736.2 2 20.273518 KEEP 0 3 111 106 3748 GG 1 1 0 + 14 60 458 0 0 29.366372 240 60 8641 427 ENST00000011292.3 0.055118 1 CHCHD3 54927 __UNKNOWN__ __UNKNOWN__ 7 132707171 132707171 __UNKNOWN__ Intron SNP C C T rs6973587 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:132707171C>T ENST00000262570.5 - 3 396 CHCHD3_ENST00000476546.1_Intron|CHCHD3_ENST00000542753.1_Intron|CHCHD3_ENST00000448878.1_Intron NM_017812.2 NP_060282.1 Q9NX63 MIC19_HUMAN coiled-coil-helix-coiled-coil-helix domain containing 3 NA NA inner mitochondrial membrane organization (GO:0007007)|mitochondrial fusion (GO:0008053)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634) phosphatase binding (GO:0019902)|protein complex scaffold (GO:0032947)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227) endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1) 7 CATACAATAACGTATACATGT 0.353 NA C||| 637 0.127196 0.1377 0.2536 5008 , , NA 16728 0.2093 NA 0.0129 False NA ,,, NA NA NA 2504 0.0562 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC011596 CCDS5828.1 7q33 2012-10-02 ENSG00000106554 ENSG00000106554 54927 Coiled-coil-helix-coiled-coil-helix domain containing, Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits 21906 protein-coding gene gene with protein product mitochondrial inner membrane organizing system 3, protein phosphatase 1, regulatory subunit 22 613748 NA 22252321, 23019327, 21081504, 17624330 Standard NM_017812 NM_017812 NA Approved FLJ20420, MINOS3, PPP1R22 uc003vre.3 Q9NX63 OTTHUMG00000155231 ENST00000262570.5:c.251+2134G>A chr7.hg19:g.132707171C>T NA hg19 CCDS5828.1 0.02 4.37667 TAAxGTA COVERED NOVEL CHCHD3-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000338899.1 1 11.135876 KEEP 0 0 0 37 1293 CC 1 1 0 - 7 60 267 0 0 17.799959 141 60 5083 242 ENST00000262570.5 0.047297 1 CHCHD3 54927 __UNKNOWN__ __UNKNOWN__ 7 132755083 132755083 __UNKNOWN__ Intron SNP T T C rs148698646 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:132755083T>C ENST00000262570.5 - 2 226 CHCHD3_ENST00000476546.1_Intron|CHCHD3_ENST00000542753.1_Intron|CHCHD3_ENST00000448878.1_Intron NM_017812.2 NP_060282.1 Q9NX63 MIC19_HUMAN coiled-coil-helix-coiled-coil-helix domain containing 3 NA NA inner mitochondrial membrane organization (GO:0007007)|mitochondrial fusion (GO:0008053)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634) phosphatase binding (GO:0019902)|protein complex scaffold (GO:0032947)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227) endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1) 7 TCCATATCCATACATATGACG 0.338 NA T||| 27 0.00539137 0.0 0.0 5008 , , NA 15959 0.0268 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC011596 CCDS5828.1 7q33 2012-10-02 ENSG00000106554 ENSG00000106554 54927 Coiled-coil-helix-coiled-coil-helix domain containing, Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits 21906 protein-coding gene gene with protein product mitochondrial inner membrane organizing system 3, protein phosphatase 1, regulatory subunit 22 613748 NA 22252321, 23019327, 21081504, 17624330 Standard NM_017812 NM_017812 NA Approved FLJ20420, MINOS3, PPP1R22 uc003vre.3 Q9NX63 OTTHUMG00000155231 ENST00000262570.5:c.82-94A>G chr7.hg19:g.132755083T>C NA hg19 CCDS5828.1 0.02 1.954909 CCAxACA COVERED NOVEL CHCHD3-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000338899.1 2 4.514027 KEEP 0 0 0 15 482 TT 0.99649 0.99641 0 - 4 60 155 0 0 10.209109 91 60 3243 150 ENST00000262570.5 0.042105 0.999919 AKR1B10 57016 __UNKNOWN__ __UNKNOWN__ 7 134223051 134223051 __UNKNOWN__ Intron SNP C C G rs55687324 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:134223051C>G ENST00000359579.4 + 8 1145 NM_020299.4 NP_064695.3 O60218 AK1BA_HUMAN aldo-keto reductase family 1, member B10 (aldose reductase) NA NA cellular aldehyde metabolic process (GO:0006081)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|farnesol catabolic process (GO:0016488)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|steroid metabolic process (GO:0008202) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764) aldo-keto reductase (NADP) activity (GO:0004033)|geranylgeranyl reductase activity (GO:0045550)|indanol dehydrogenase activity (GO:0047718)|retinal dehydrogenase activity (GO:0001758) NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5) 20 GCTGGTCGGCCCTGGTATTCC 0.537 NA C||| 135 0.0269569 0.0136 0.0086 5008 , , NA 20462 0.005 NA 0.0169 False NA ,,, NA NA NA 2504 0.091 NA NA NA NA 0 C 70,4336 1,68,2134 125 115 118 -1.8 0 7 dbSNP_129 118 145,8455 3,139,4158 no intron AKR1B10 NM_020299.4 4,207,6292 GG,GC,CC 1.686,1.5887,1.6531 134223051 215,12791 2203 4300 6503 SO:0001627 intron_variant AF052577 CCDS5832.1 7q33 2010-04-08 ENSG00000198074 ENSG00000198074 57016 Aldo-keto reductases 382 protein-coding gene gene with protein product aldose reductase-like 1, aldo-keto reductase family 1, member B11 (aldose reductase-like), aldose reductase-like peptide, aldose reductase-related protein, small intestine reductase 604707 AKR1B11 NA 9765596, 9565553 Standard NM_020299 NM_020299 NA Approved AKR1B12, ARL-1, HIS, ARL1, HSI, ALDRLn uc003vrr.3 O60218 OTTHUMG00000155356 ENST00000359579.4:c.825+22C>G chr7.hg19:g.134223051C>G NA A4D1P1|O75890|Q6FHF3|Q8IWZ1 hg19 CCDS5832.1 0.02 8.543127 GGCxCTG COVERED NOVEL AKR1B10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000339615.1 0 6.017401 KEEP 0 0 0 20 701 CC 0.999863 0.999863 0 + 10 60 308 0 0 18.690311 208 60 7398 276 ENST00000359579.4 0.045872 1 AKR1B10 57016 __UNKNOWN__ __UNKNOWN__ 7 134223842 134223842 __UNKNOWN__ Intron SNP T T C rs55832222 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:134223842T>C ENST00000359579.4 + 9 1228 NM_020299.4 NP_064695.3 O60218 AK1BA_HUMAN aldo-keto reductase family 1, member B10 (aldose reductase) NA NA cellular aldehyde metabolic process (GO:0006081)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|farnesol catabolic process (GO:0016488)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|steroid metabolic process (GO:0008202) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764) aldo-keto reductase (NADP) activity (GO:0004033)|geranylgeranyl reductase activity (GO:0045550)|indanol dehydrogenase activity (GO:0047718)|retinal dehydrogenase activity (GO:0001758) NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5) 20 GTTGGAAGGATTGGAAGGCTG 0.433 NA T||| 329 0.0656949 0.1407 0.0187 5008 , , NA 20497 0.003 NA 0.0169 False NA ,,, NA NA NA 2504 0.1125 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF052577 CCDS5832.1 7q33 2010-04-08 ENSG00000198074 ENSG00000198074 57016 Aldo-keto reductases 382 protein-coding gene gene with protein product aldose reductase-like 1, aldo-keto reductase family 1, member B11 (aldose reductase-like), aldose reductase-like peptide, aldose reductase-related protein, small intestine reductase 604707 AKR1B11 NA 9765596, 9565553 Standard NM_020299 NM_020299 NA Approved AKR1B12, ARL-1, HIS, ARL1, HSI, ALDRLn uc003vrr.3 O60218 OTTHUMG00000155356 ENST00000359579.4:c.908+73T>C chr7.hg19:g.134223842T>C NA A4D1P1|O75890|Q6FHF3|Q8IWZ1 hg19 CCDS5832.1 0.02 21.696082 GGAxTGG COVERED NOVEL AKR1B10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000339615.1 1 15.649538 KEEP 0 0 0 52 1719 TT 1 1 0 + 20 60 781 0 0 52.019085 435 60 15715 615 ENST00000359579.4 0.043956 1 CALD1 800 __UNKNOWN__ __UNKNOWN__ 7 134552634 134552634 __UNKNOWN__ Intron SNP G G A rs1452911 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:134552634G>A ENST00000361675.2 + 3 300 CALD1_ENST00000422748.1_Intron|CALD1_ENST00000361901.2_Intron|CALD1_ENST00000417172.1_Intron|CALD1_ENST00000361388.2_Intron Q05682 CALD1_HUMAN caldesmon 1 NA NA cellular component movement (GO:0006928)|muscle contraction (GO:0006936) actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886) actin binding (GO:0003779)|calmodulin binding (GO:0005516)|tropomyosin binding (GO:0005523) NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10) 43 ATCCTTTTGAGAGGCCAAATG 0.378 NA G||| 1418 0.283147 0.0121 0.3718 5008 , , NA 19742 0.6587 NA 0.3062 False NA ,,, NA NA NA 2504 0.1759 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M64110 CCDS5834.1, CCDS5835.1, CCDS5836.1, CCDS47716.1, CCDS47717.1, CCDS5836.2 7q33 2007-04-23 ENSG00000122786 ENSG00000122786 800 1441 protein-coding gene gene with protein product 114213 NA 1885618 Standard NM_033138 NM_004342 NA Approved CDM, H-CAD, L-CAD uc003vrz.3 Q05682 OTTHUMG00000155407 ENST00000361675.2:c.71+79G>A chr7.hg19:g.134552634G>A NA A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91 hg19 CCDS5835.1 0.02 7.721917 TGAxAGG COVERED NOVEL CALD1-005 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000339939.1 2 22.271242 KEEP 0 0 0 74 2563 GG 1 1 0 + 13 60 437 0 0 27.905894 230 60 8685 361 ENST00000361675.2 0.053498 1 CALD1 800 __UNKNOWN__ __UNKNOWN__ 7 134618710 134618710 __UNKNOWN__ Missense_Mutation SNP A A G rs6973420 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:134618710A>G ENST00000361675.2 + 5 1419 c.1190A>G c.(1189-1191)cAt>cGt p.H397R CALD1_ENST00000422748.1_Intron|CALD1_ENST00000543443.1_Intron|CALD1_ENST00000495522.1_Intron|CALD1_ENST00000361901.2_Intron|CALD1_ENST00000424922.1_Intron|CALD1_ENST00000417172.1_Intron|CALD1_ENST00000361388.2_Intron|CALD1_ENST00000393118.2_Intron Q05682 CALD1_HUMAN caldesmon 1 397 NA H -> R (in dbSNP:rs6973420). {ECO:0000269|PubMed:1555769}. cellular component movement (GO:0006928)|muscle contraction (GO:0006936) actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886) actin binding (GO:0003779)|calmodulin binding (GO:0005516)|tropomyosin binding (GO:0005523) NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10) 43 GAGAAAAAACATGCCATGCAA 0.428 NA G||| 2546 0.508387 0.4357 0.366 5008 , , NA 21799 0.8581 NA 0.4821 False NA ,,, NA NA NA 2504 0.3742 NA NA NA NA 0 G ,,,,ARG/HIS 1958,2448 620.6+/-393.6 451,1056,696 113 122 119 ,,,,1190 -4.5 0 7 dbSNP_116 119 3900,4700 605.5+/-395.0 906,2088,1306 yes intron,intron,intron,intron,missense CALD1 NM_004342.6,NM_033139.3,NM_033140.3,NM_033157.3,NM_033138.3 ,,,,29 1357,3144,2002 GG,GA,AA 45.3488,44.4394,45.0408 ,,,,benign ,,,,397/794 134618710 5858,7148 2203 4300 6503 SO:0001583 missense M64110 CCDS5834.1, CCDS5835.1, CCDS5836.1, CCDS47716.1, CCDS47717.1, CCDS5836.2 7q33 2007-04-23 ENSG00000122786 ENSG00000122786 800 1441 protein-coding gene gene with protein product 114213 NA 1885618 Standard NM_033138 NM_004342 NA Approved CDM, H-CAD, L-CAD uc003vrz.3 Q05682 OTTHUMG00000155407 ENST00000361675.2:c.1190A>G chr7.hg19:g.134618710A>G ENSP00000354826:p.His397Arg NA A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91 hg19 CCDS5835.1 0.02 8.103035 AACxTGC COVERED 1206 0.5521978021978022 210 0.4268292682926829 139 0.3839779005524862 490 0.8566433566433567 367 0.4841688654353562 G 0.040 -1.287969 0.01387 0.444394 0.453488 ENSG00000122786 ENST00000361675 T 0.28069 1.63 4.15 -4.5 0.03493 . 2.361110 0.01783 N 0.031867 T 0.00012 0.0000 N 0.08118 0 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.25882 -1.0119 8 . . . 12.5912 6.3213 0.21219 0.3306:0.2473:0.4222:0.0 rs6973420;rs17803435;rs59805101;rs6973420 397 Q05682 CALD1_HUMAN R 397 ENSP00000354826:H397R . H + 2 0 CALD1 134269250 0.000000 0.05858 0.000000 0.03702 0.002000 0.02628 -1.464000 0.02359 -1.211000 0.02624 -2.371000 0.00235 CAT NOVEL CALD1-005 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000339939.1 5 23.471373 KEEP 0 0 0 78 2459 AA 1 1 0 + 18 60 606 0 0 41.303544 226 60 8278 384 ENST00000361675.2 0.07377 1 WDR91 29062 __UNKNOWN__ __UNKNOWN__ 7 134880931 134880931 __UNKNOWN__ Silent SNP C C T rs2288240 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:134880931C>T ENST00000423565.1 - 8 1152 c.1104G>A c.(1102-1104)gaG>gaA p.E368E WDR91_ENST00000354475.4_Silent_p.E403E|WDR91_ENST00000344400.5_Silent_p.E403E A4D1P6 WDR91_HUMAN WD repeat domain 91 403 NA breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 40 GTTCCCCGTACTCCTCCTGTC 0.622 NA C||| 286 0.0571086 0.0 0.0331 5008 , , NA 17252 0.2093 NA 0.002 False NA ,,, NA NA NA 2504 0.0511 NA NA NA NA 0 C 9,4397 15.5+/-35.6 0,9,2194 80 79 79 1209 4.9 1 7 dbSNP_100 79 20,8580 14.0+/-48.4 0,20,4280 no coding-synonymous WDR91 NM_014149.3 0,29,6474 TT,TC,CC 0.2326,0.2043,0.223 403/748 134880931 29,12977 2203 4300 6503 SO:0001819 synonymous_variant AF161534 CCDS34758.1 7q33 2013-01-09 ENSG00000105875 ENSG00000105875 29062 WD repeat domain containing 24997 protein-coding gene gene with protein product NA 11042152, 11230166 Standard NM_014149 NM_014149 NA Approved HSPC049 uc003vsp.2 A4D1P6 OTTHUMG00000155414 ENST00000423565.1:c.1104G>A chr7.hg19:g.134880931C>T NA A6NK54|C9JMI4|Q6FI65|Q6MZQ1|Q6P4I1|Q96AE5|Q96G63|Q9H062|Q9H9B6|Q9NVG7|Q9NZY6 hg19 0.02 7.718665 GTAxTCC COVERED NOVEL WDR91-002 NOVEL non_canonical_U12|not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000340020.2 2 37.900206 KEEP 0 0 0 126 4458 CC 1 1 0 - 7 60 251 0 0 14.811722 225 60 8434 457 ENST00000423565.1 0.030172 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 134968479 134968479 __UNKNOWN__ IGR SNP A A C rs11762990 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:134968479A>C NA NA STRA8 (25235 upstream) : CNOT4 (78067 downstream) NA NA NA TGAAGGTGGAACTCAATTAAC 0.433 NA A||| 1315 0.26258 0.1271 0.2478 5008 , , NA 19534 0.1796 NA 0.3976 False NA ,,, NA NA NA 2504 0.4029 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.134968479A>C NA hg19 0.02 13.188283 GGAxCTC COVERED NOVEL 0 0 16.84926 KEEP 0 0 0 56 1744 AA 1 1 0 9 60 333 0 0 19.614784 326 60 11647 474 0.026866 1 CNOT4 4850 __UNKNOWN__ __UNKNOWN__ 7 135048804 135048804 __UNKNOWN__ 5'UTR SNP C C T rs3812265 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:135048804C>T ENST00000473470.1 - 0 320 CNOT4_ENST00000451834.1_Missense_Mutation_p.V545I|CNOT4_ENST00000423368.2_Intron|CNOT4_ENST00000541284.1_Missense_Mutation_p.V548I|CNOT4_ENST00000361528.4_Intron O95628 CNOT4_HUMAN CCR4-NOT transcription complex, subunit 4 NA NA gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070) cytosol (GO:0005829)|nucleus (GO:0005634) ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1) 22 AAACTCTCTACAGAACTGCTG 0.383 NA C||| 1372 0.273962 0.1581 0.3199 5008 , , NA 19813 0.5218 NA 0.2455 False NA ,,, NA NA NA 2504 0.1718 NA NA NA Ovarian(51;766 1130 5502 35047 50875) NA 0 C ,ILE/VAL,ILE/VAL, 352,1400 30,292,554 205 185 191 ,1633,1642, 5 1 7 dbSNP_107 191 996,2986 124,748,1119 yes intron,missense,missense,intron CNOT4 NM_001190847.1,NM_001190849.1,NM_001190850.1,NM_013316.3 ,29,29, 154,1040,1673 TT,TC,CC 25.0126,20.0913,23.5089 ,,, ,545/711,548/714, 135048804 1348,4386 876 1991 2867 SO:0001623 5_prime_UTR_variant AF180475 CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1 7q33 2013-09-19 ENSG00000080802 ENSG00000080802 4850 RNA binding motif (RRM) containing 7880 protein-coding gene gene with protein product 604911 NOT4 NA 10637334 Standard NM_013316 NM_013316 NA Approved CLONE243, NOT4H uc011kpy.2 O95628 OTTHUMG00000155568 ENST00000473470.1:c.-387G>A chr7.hg19:g.135048804C>T NA B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6 hg19 0.02 5.569024 CTAxAGA COVERED 705 0.3228021978021978 97 0.19715447154471544 119 0.3287292817679558 294 0.513986013986014 195 0.25725593667546176 C 4.845 0.156993 0.09236 0.200913 0.250126 ENSG00000080802 ENST00000541284;ENST00000451834;ENST00000262563 T;T 0.40476 1.03;1.03 5.85 4.97 0.65823 . 0.061993 0.64402 D 0.000004 T 0.00012 0.0000 N 0.10874 0.06 0.09310 P 1.0 B;B 0.02656 0.0;0.0 B;B 0.04013 0.0;0.001 T 0.44143 -0.9347 9 0.36615 T 0.2 -2.9941 10.91 0.47103 0.0:0.8576:0.0:0.1424 rs3812265;rs13243884;rs17168407;rs52827553;rs60627613;rs3812265 545;548 E7ET38;F8VQP3 .;. I 548;545;548 ENSP00000445508:V548I;ENSP00000388491:V545I ENSP00000262563:V548I V - 1 0 CNOT4 134699344 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 2.408000 0.44574 1.477000 0.48234 0.655000 0.94253 GTA NOVEL CNOT4-008 PUTATIVE basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000340675.1 0 14.146636 KEEP 0 0 0 47 1708 CC 1 1 0 - 9 60 301 0 0 18.842743 173 60 6678 288 ENST00000473470.1 0.049451 1 CNOT4 4850 __UNKNOWN__ __UNKNOWN__ 7 135069400 135069400 __UNKNOWN__ Intron SNP C C G rs117920685 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:135069400C>G ENST00000473470.1 - 1 306 CNOT4_ENST00000414802.1_3'UTR|CNOT4_ENST00000451834.1_Intron|CNOT4_ENST00000423368.2_Intron|CNOT4_ENST00000541284.1_Intron|CNOT4_ENST00000361528.4_Intron O95628 CNOT4_HUMAN CCR4-NOT transcription complex, subunit 4 NA NA gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070) cytosol (GO:0005829)|nucleus (GO:0005634) ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1) 22 caccacccaacgacatctatt 0.493 NA T||| 57 0.0113818 0.0 0.0 5008 , , NA 18968 0.0516 NA 0.0 False NA ,,, NA NA NA 2504 0.0051 NA NA NA Ovarian(51;766 1130 5502 35047 50875) NA 0 42 41 42 NA NA 7 NA 135069400 876 1991 2867 SO:0001627 intron_variant AF180475 CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1 7q33 2013-09-19 ENSG00000080802 ENSG00000080802 4850 RNA binding motif (RRM) containing 7880 protein-coding gene gene with protein product 604911 NOT4 NA 10637334 Standard NM_013316 NM_013316 NA Approved CLONE243, NOT4H uc011kpy.2 O95628 OTTHUMG00000155568 ENST00000473470.1:c.401+2933G>C chr7.hg19:g.135069400C>G NA B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6 hg19 0.02 35.766744 CAAxGAC COVERED NOVEL CNOT4-008 PUTATIVE basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000340675.1 18 45.738402 KEEP 0 0 0 152 5152 CC 1 1 0 - 25 60 929 0 0 55.908833 823 60 28994 1193 ENST00000473470.1 0.029481 1 CNOT4 4850 __UNKNOWN__ __UNKNOWN__ 7 135069559 135069559 __UNKNOWN__ Intron SNP A A C rs77899735 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:135069559A>C ENST00000473470.1 - 1 306 CNOT4_ENST00000414802.1_Intron|CNOT4_ENST00000451834.1_Intron|CNOT4_ENST00000423368.2_Intron|CNOT4_ENST00000541284.1_Intron|CNOT4_ENST00000361528.4_Intron|CNOT4_ENST00000356162.4_Intron O95628 CNOT4_HUMAN CCR4-NOT transcription complex, subunit 4 NA NA gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070) cytosol (GO:0005829)|nucleus (GO:0005634) ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1) 22 tctagttagcatcttgtttgt 0.343 NA A||| 57 0.0113818 0.0 0.0 5008 , , NA 21597 0.0516 NA 0.0 False NA ,,, NA NA NA 2504 0.0051 NA NA NA Ovarian(51;766 1130 5502 35047 50875) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF180475 CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1 7q33 2013-09-19 ENSG00000080802 ENSG00000080802 4850 RNA binding motif (RRM) containing 7880 protein-coding gene gene with protein product 604911 NOT4 NA 10637334 Standard NM_013316 NM_013316 NA Approved CLONE243, NOT4H uc011kpy.2 O95628 OTTHUMG00000155568 ENST00000473470.1:c.401+2774T>G chr7.hg19:g.135069559A>C NA B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6 hg19 0.02 17.891159 AGCxTCT COVERED NOVEL CNOT4-008 PUTATIVE basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000340675.1 2 20.159034 KEEP 0 0 0 67 2071 AA 1 1 0 - 12 60 462 0 0 28.231276 411 60 15136 571 ENST00000473470.1 0.028369 1 CNOT4 4850 __UNKNOWN__ __UNKNOWN__ 7 135072141 135072141 __UNKNOWN__ Intron SNP T T C rs3812278 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:135072141T>C ENST00000473470.1 - 1 306 CNOT4_ENST00000414802.1_Intron|CNOT4_ENST00000451834.1_Intron|CNOT4_ENST00000423368.2_Intron|CNOT4_ENST00000541284.1_Intron|CNOT4_ENST00000315544.5_3'UTR|CNOT4_ENST00000428680.2_3'UTR|CNOT4_ENST00000361528.4_Intron|CNOT4_ENST00000356162.4_Intron O95628 CNOT4_HUMAN CCR4-NOT transcription complex, subunit 4 NA NA gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070) cytosol (GO:0005829)|nucleus (GO:0005634) ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1) 22 GTCATTTAATTTGTCACATTA 0.323 NA T||| 1301 0.259784 0.0855 0.3228 5008 , , NA 16616 0.5208 NA 0.2445 False NA ,,, NA NA NA 2504 0.1973 NA NA NA Ovarian(51;766 1130 5502 35047 50875) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF180475 CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1 7q33 2013-09-19 ENSG00000080802 ENSG00000080802 4850 RNA binding motif (RRM) containing 7880 protein-coding gene gene with protein product 604911 NOT4 NA 10637334 Standard NM_013316 NM_013316 NA Approved CLONE243, NOT4H uc011kpy.2 O95628 OTTHUMG00000155568 ENST00000473470.1:c.401+192A>G chr7.hg19:g.135072141T>C NA B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6 hg19 0.02 8.686165 AATxTGT COVERED NOVEL CNOT4-008 PUTATIVE basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000340675.1 0 10.230755 KEEP 0 0 0 34 1074 TT 0.999998 0.999998 0 - 10 60 377 1 0 24.729369 214 60 7694 303 ENST00000473470.1 0.044643 1 CNOT4 4850 __UNKNOWN__ __UNKNOWN__ 7 135072219 135072219 __UNKNOWN__ Intron SNP T T G rs3812279 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:135072219T>G ENST00000473470.1 - 1 306 CNOT4_ENST00000414802.1_Intron|CNOT4_ENST00000451834.1_Intron|CNOT4_ENST00000423368.2_Intron|CNOT4_ENST00000541284.1_Intron|CNOT4_ENST00000315544.5_3'UTR|CNOT4_ENST00000428680.2_3'UTR|CNOT4_ENST00000361528.4_Intron|CNOT4_ENST00000356162.4_Intron O95628 CNOT4_HUMAN CCR4-NOT transcription complex, subunit 4 NA NA gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070) cytosol (GO:0005829)|nucleus (GO:0005634) ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1) 22 AACATGACATTAAGTACCATC 0.279 NA T||| 57 0.0113818 0.0 0.0 5008 , , NA 17029 0.0516 NA 0.0 False NA ,,, NA NA NA 2504 0.0051 NA NA NA Ovarian(51;766 1130 5502 35047 50875) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF180475 CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1 7q33 2013-09-19 ENSG00000080802 ENSG00000080802 4850 RNA binding motif (RRM) containing 7880 protein-coding gene gene with protein product 604911 NOT4 NA 10637334 Standard NM_013316 NM_013316 NA Approved CLONE243, NOT4H uc011kpy.2 O95628 OTTHUMG00000155568 ENST00000473470.1:c.401+114A>C chr7.hg19:g.135072219T>G NA B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6 hg19 0.02 12.408936 CATxAAG COVERED NOVEL CNOT4-008 PUTATIVE basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000340675.1 1 11.420764 KEEP 0 0 0 38 1140 TT 1 1 0 - 9 60 350 0 0 22.421967 244 70 8825 343 ENST00000473470.1 0.035573 1 CNOT4 4850 __UNKNOWN__ __UNKNOWN__ 7 135072273 135072273 __UNKNOWN__ Intron SNP T T C rs78169212 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:135072273T>C ENST00000473470.1 - 1 306 CNOT4_ENST00000414802.1_Intron|CNOT4_ENST00000451834.1_Intron|CNOT4_ENST00000423368.2_Intron|CNOT4_ENST00000541284.1_Intron|CNOT4_ENST00000315544.5_3'UTR|CNOT4_ENST00000428680.2_3'UTR|CNOT4_ENST00000361528.4_Intron|CNOT4_ENST00000356162.4_Intron O95628 CNOT4_HUMAN CCR4-NOT transcription complex, subunit 4 NA NA gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070) cytosol (GO:0005829)|nucleus (GO:0005634) ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1) 22 ATCTCTAGGCTTCTTTTTTGT 0.289 NA T||| 57 0.0113818 0.0 0.0 5008 , , NA 17027 0.0516 NA 0.0 False NA ,,, NA NA NA 2504 0.0051 NA NA NA Ovarian(51;766 1130 5502 35047 50875) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF180475 CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1 7q33 2013-09-19 ENSG00000080802 ENSG00000080802 4850 RNA binding motif (RRM) containing 7880 protein-coding gene gene with protein product 604911 NOT4 NA 10637334 Standard NM_013316 NM_013316 NA Approved CLONE243, NOT4H uc011kpy.2 O95628 OTTHUMG00000155568 ENST00000473470.1:c.401+60A>G chr7.hg19:g.135072273T>C NA B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6 hg19 0.02 8.654633 GGCxTCT COVERED NOVEL CNOT4-008 PUTATIVE basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000340675.1 1 9.327878 KEEP 0 0 0 31 969 TT 0.999997 0.999997 0 - 7 60 257 0 0 15.794342 198 70 7185 276 ENST00000473470.1 0.034146 1 CNOT4 4850 __UNKNOWN__ __UNKNOWN__ 7 135072762 135072762 __UNKNOWN__ Intron SNP T T C rs75012056 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:135072762T>C ENST00000451834.1 - 10 1902 CNOT4_ENST00000414802.1_Intron|CNOT4_ENST00000423368.2_Intron|CNOT4_ENST00000541284.1_Intron|CNOT4_ENST00000315544.5_3'UTR|CNOT4_ENST00000428680.2_3'UTR|CNOT4_ENST00000361528.4_Intron|CNOT4_ENST00000356162.4_Intron O95628 CNOT4_HUMAN CCR4-NOT transcription complex, subunit 4 NA NA gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070) cytosol (GO:0005829)|nucleus (GO:0005634) ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1) 22 ACTACTATGGTTGCTTTTCAC 0.299 NA T||| 58 0.0115815 0.0008 0.0 5008 , , NA 18509 0.0516 NA 0.0 False NA ,,, NA NA NA 2504 0.0051 NA NA NA Ovarian(51;766 1130 5502 35047 50875) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF180475 CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1 7q33 2013-09-19 ENSG00000080802 ENSG00000080802 4850 RNA binding motif (RRM) containing 7880 protein-coding gene gene with protein product 604911 NOT4 NA 10637334 Standard NM_013316 NM_013316 NA Approved CLONE243, NOT4H uc011kpy.2 O95628 OTTHUMG00000155568 ENST00000451834.1:c.1618+5907A>G chr7.hg19:g.135072762T>C NA B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6 hg19 CCDS55167.1 0.02 6.342839 TGGxTGC COVERED NOVEL CNOT4-003 NOVEL not_organism_supported|basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000340670.1 2 10.831963 KEEP 0 0 0 36 1138 TT 0.999999 0.999999 0 - 6 60 219 0 0 13.622816 156 60 5573 235 ENST00000451834.1 0.037037 1 NUP205 23165 __UNKNOWN__ __UNKNOWN__ 7 135242688 135242688 __UNKNOWN__ 5'UTR SNP C C T rs80096124 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:135242688C>T ENST00000285968.6 + 0 22 NUP205_ENST00000489493.1_3'UTR|NUP205_ENST00000440390.2_5'UTR NM_015135.2 NP_055950 Q92621 NU205_HUMAN nucleoporin 205kDa NA NA carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032) membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643) structural constituent of nuclear pore (GO:0017056) breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 TAGTGCGCCTCTAAGATGGCG 0.572 NA C||| 72 0.014377 0.0 0.0014 5008 , , NA 18936 0.0466 NA 0.0 False NA ,,, NA NA NA 2504 0.0245 NA NA NA NA 0 C 1,4405 2.1+/-5.4 0,1,2202 81 73 76 0.6 1 7 dbSNP_131 76 3,8597 3.0+/-9.4 0,3,4297 no utr-5 NUP205 NM_015135.2 0,4,6499 TT,TC,CC 0.0349,0.0227,0.0308 135242688 4,13002 2203 4300 6503 SO:0001623 5_prime_UTR_variant D86978 CCDS34759.1 7q31.32 2007-03-26 2004-01-06 2004-01-07 ENSG00000155561 ENSG00000155561 23165 18658 protein-coding gene gene with protein product 614352 chromosome 7 open reading frame 14 C7orf14 NA 9039502, 9348540 Standard NM_015135 NA Approved KIAA0225 uc003vsw.3 Q92621 OTTHUMG00000155497 ENST00000285968.6:c.-5C>T chr7.hg19:g.135242688C>T NA A6H8X3|Q86YC1 hg19 CCDS34759.1 0.02 21.043064 CCTxTAA COVERED NOVEL NUP205-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000340358.1 1 61.695591 KEEP 0 0 0 205 7305 CC 1 1 0 + 14 60 509 0 0 29.792017 492 60 18691 881 ENST00000285968.6 0.027668 1 NUP205 23165 __UNKNOWN__ __UNKNOWN__ 7 135261689 135261689 __UNKNOWN__ Intron SNP G G A rs73725137 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:135261689G>A ENST00000285968.6 + 5 514 NUP205_ENST00000440390.2_Intron NM_015135.2 NP_055950 Q92621 NU205_HUMAN nucleoporin 205kDa NA NA carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032) membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643) structural constituent of nuclear pore (GO:0017056) breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 ATTGTTTAACGTAGTTTATTG 0.398 NA A||| 432 0.086262 0.0893 0.0562 5008 , , NA 22661 0.0546 NA 0.0557 False NA ,,, NA NA NA 2504 0.1677 NA NA NA NA 0 A 417,3989 786.6+/-414.8 18,381,1804 62 62 62 -9.6 0 7 dbSNP_130 62 463,8137 798.8+/-407.4 11,441,3848 no intron NUP205 NM_015135.2 29,822,5652 AA,AG,GG 5.3837,9.4644,6.7661 135261689 880,12126 2203 4300 6503 SO:0001627 intron_variant D86978 CCDS34759.1 7q31.32 2007-03-26 2004-01-06 2004-01-07 ENSG00000155561 ENSG00000155561 23165 18658 protein-coding gene gene with protein product 614352 chromosome 7 open reading frame 14 C7orf14 NA 9039502, 9348540 Standard NM_015135 NA Approved KIAA0225 uc003vsw.3 Q92621 OTTHUMG00000155497 ENST00000285968.6:c.489-28G>A chr7.hg19:g.135261689G>A NA A6H8X3|Q86YC1 hg19 CCDS34759.1 0.02 4.318092 AACxTAG COVERED NOVEL NUP205-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000340358.1 0 3.912331 KEEP 0 0 0 13 429 GG 0.994391 0.99439 0 + 5 60 183 0 0 11.453778 127 60 4197 161 ENST00000285968.6 0.037879 1 NUP205 23165 __UNKNOWN__ __UNKNOWN__ 7 135263735 135263735 __UNKNOWN__ Intron SNP A A G rs73725145 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:135263735A>G ENST00000285968.6 + 7 1068 NUP205_ENST00000440390.2_Intron NM_015135.2 NP_055950 Q92621 NU205_HUMAN nucleoporin 205kDa NA NA carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032) membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643) structural constituent of nuclear pore (GO:0017056) breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 TGGAAGGAGTATTATCTTTGA 0.343 NA G||| 429 0.0856629 0.087 0.0562 5008 , , NA 19730 0.0546 NA 0.0547 False NA ,,, NA NA NA 2504 0.1687 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D86978 CCDS34759.1 7q31.32 2007-03-26 2004-01-06 2004-01-07 ENSG00000155561 ENSG00000155561 23165 18658 protein-coding gene gene with protein product 614352 chromosome 7 open reading frame 14 C7orf14 NA 9039502, 9348540 Standard NM_015135 NA Approved KIAA0225 uc003vsw.3 Q92621 OTTHUMG00000155497 ENST00000285968.6:c.1042+72A>G chr7.hg19:g.135263735A>G NA A6H8X3|Q86YC1 hg19 CCDS34759.1 0.02 6.481302 AGTxTTA COVERED NOVEL NUP205-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000340358.1 1 4.211553 KEEP 0 0 0 14 412 AA 0.995343 0.995343 0 + 9 60 330 0 0 22.035812 160 60 5876 206 ENST00000285968.6 0.053254 1 NUP205 23165 __UNKNOWN__ __UNKNOWN__ 7 135269655 135269655 __UNKNOWN__ Missense_Mutation SNP T T C rs58392569 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:135269655T>C ENST00000285968.6 + 8 1144 c.1118T>C c.(1117-1119)aTg>aCg p.M373T NUP205_ENST00000440390.2_Missense_Mutation_p.M167T NM_015135.2 NP_055950 Q92621 NU205_HUMAN nucleoporin 205kDa 373 NA carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032) membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643) structural constituent of nuclear pore (GO:0017056) breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 CTGTTCCTCATGGAATCTGTA 0.393 NA C||| 250 0.0499201 0.034 0.0504 5008 , , NA 16380 0.0516 NA 0.0457 False NA ,,, NA NA NA 2504 0.0736 NA NA NA NA 0 C THR/MET 109,4297 801.6+/-415.6 2,105,2096 81 72 75 1118 3.7 0.7 7 dbSNP_129 75 226,8374 791.2+/-407.6 4,218,4078 yes missense NUP205 NM_015135.2 81 6,323,6174 CC,CT,TT 2.6279,2.4739,2.5757 benign 373/2013 135269655 335,12671 2203 4300 6503 SO:0001583 missense D86978 CCDS34759.1 7q31.32 2007-03-26 2004-01-06 2004-01-07 ENSG00000155561 ENSG00000155561 23165 18658 protein-coding gene gene with protein product 614352 chromosome 7 open reading frame 14 C7orf14 NA 9039502, 9348540 Standard NM_015135 NA Approved KIAA0225 uc003vsw.3 Q92621 OTTHUMG00000155497 ENST00000285968.6:c.1118T>C chr7.hg19:g.135269655T>C ENSP00000285968:p.Met373Thr NA A6H8X3|Q86YC1 hg19 CCDS34759.1 0.02 11.323982 TCAxGGA COVERED 79 0.036172161172161175 11 0.022357723577235773 16 0.04419889502762431 29 0.050699300699300696 23 0.030343007915567283 C 6.524 0.464871 0.12402 0.024739 0.026279 ENSG00000155561 ENST00000285968;ENST00000440390 T;T 0.28666 1.6;1.6 5.53 3.68 0.42216 . 0.144073 0.64402 N 0.000008 T 0.01222 0.0040 N 0.00538 -1.39 0.58432 P 1.999999999946489E-6 B 0.02656 0.0 B 0.01281 0.0 T 0.13388 -1.0511 9 0.18710 T 0.47 -28.4751 10.9304 0.47215 0.0:0.6812:0.2514:0.0673 rs58392569;rs61751961 373 Q92621 NU205_HUMAN T 373;167 ENSP00000285968:M373T;ENSP00000401983:M167T ENSP00000285968:M373T M + 2 0 NUP205 134920195 0.985000 0.35326 0.749000 0.31150 0.907000 0.53573 2.702000 0.47102 0.273000 0.22049 -0.186000 0.12905 ATG NOVEL NUP205-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000340358.1 0 19.860685 KEEP 0 0 0 66 2117 TT 1 1 0 + 15 60 531 0 0 34.453022 283 60 10508 455 ENST00000285968.6 0.050336 1 NUP205 23165 __UNKNOWN__ __UNKNOWN__ 7 135298858 135298858 __UNKNOWN__ Intron SNP G G A rs73725194 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:135298858G>A ENST00000285968.6 + 23 3221 NM_015135.2 NP_055950 Q92621 NU205_HUMAN nucleoporin 205kDa NA NA carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032) membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643) structural constituent of nuclear pore (GO:0017056) breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 CATAATATGTGTAACACAGAA 0.343 NA A||| 552 0.110224 0.1467 0.062 5008 , , NA 16549 0.0704 NA 0.0586 False NA ,,, NA NA NA 2504 0.1892 NA NA NA NA 0 A 585,3821 769.0+/-413.6 38,509,1656 81 78 79 -7.5 0 7 dbSNP_130 79 502,8096 794.1+/-407.5 13,476,3810 no intron NUP205 NM_015135.2 51,985,5466 AA,AG,GG 5.8386,13.2773,8.359 135298858 1087,11917 2203 4299 6502 SO:0001627 intron_variant D86978 CCDS34759.1 7q31.32 2007-03-26 2004-01-06 2004-01-07 ENSG00000155561 ENSG00000155561 23165 18658 protein-coding gene gene with protein product 614352 chromosome 7 open reading frame 14 C7orf14 NA 9039502, 9348540 Standard NM_015135 NA Approved KIAA0225 uc003vsw.3 Q92621 OTTHUMG00000155497 ENST00000285968.6:c.3196-49G>A chr7.hg19:g.135298858G>A NA A6H8X3|Q86YC1 hg19 CCDS34759.1 0.02 7.748089 TGTxTAA COVERED NOVEL NUP205-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000340358.1 0 4.815371 KEEP 0 0 0 16 564 GG 0.997832 0.997832 0 + 8 60 280 0 0 16.596707 232 60 8812 273 ENST00000285968.6 0.033333 1 NUP205 23165 __UNKNOWN__ __UNKNOWN__ 7 135323472 135323472 __UNKNOWN__ Intron SNP G G T rs77329735 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:135323472G>T ENST00000285968.6 + 38 5418 NM_015135.2 NP_055950 Q92621 NU205_HUMAN nucleoporin 205kDa NA NA carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032) membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643) structural constituent of nuclear pore (GO:0017056) breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GAACTAAGTTGCTATGGTTAT 0.378 NA G||| 89 0.0177716 0.0015 0.0029 5008 , , NA 19143 0.0506 NA 0.004 False NA ,,, NA NA NA 2504 0.0307 NA NA NA NA 0 G 5,4401 9.9+/-24.2 0,5,2198 103 93 97 3.6 0 7 dbSNP_132 97 44,8556 26.8+/-75.7 1,42,4257 no intron NUP205 NM_015135.2 1,47,6455 TT,TG,GG 0.5116,0.1135,0.3767 135323472 49,12957 2203 4300 6503 SO:0001627 intron_variant D86978 CCDS34759.1 7q31.32 2007-03-26 2004-01-06 2004-01-07 ENSG00000155561 ENSG00000155561 23165 18658 protein-coding gene gene with protein product 614352 chromosome 7 open reading frame 14 C7orf14 NA 9039502, 9348540 Standard NM_015135 NA Approved KIAA0225 uc003vsw.3 Q92621 OTTHUMG00000155497 ENST00000285968.6:c.5392+41G>T chr7.hg19:g.135323472G>T NA A6H8X3|Q86YC1 hg19 CCDS34759.1 0.02 8.548732 GTTxCTA COVERED NOVEL NUP205-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000340358.1 0 11.136388 KEEP 0 0 0 37 1322 GG 1 1 0 + 9 60 327 0 0 20.736195 208 60 7787 287 ENST00000285968.6 0.041475 1 SLC13A4 26266 __UNKNOWN__ __UNKNOWN__ 7 135369040 135369040 __UNKNOWN__ Intron SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:135369040G>A ENST00000354042.4 - 15 2295 SLC13A4_ENST00000491630.1_Intron|C7orf73_ENST00000422968.1_Intron NM_012450.2 NP_036582.2 Q9UKG4 S13A4_HUMAN solute carrier family 13 (sodium/sulfate symporter), member 4 NA NA sodium ion transmembrane transport (GO:0035725)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) sodium:sulfate symporter activity (GO:0015382) breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2) 24 AAACATTCACGAGATTAGGCT 0.463 NA NA NA NA NA NA NA NA NA NA NA 0 79 69 73 NA NA 7 NA 135369040 2203 4300 6503 SO:0001627 intron_variant AF169301 CCDS5840.1 7q33 2013-07-18 2013-07-18 ENSG00000164707 ENSG00000164707 26266 Solute carriers 15827 protein-coding gene gene with protein product sulphate transporter 1 604309 solute carrier family 13 (sodium/sulphate symporters), member 4 NA 10535998 Standard NM_012450 NM_012450 NA Approved SUT-1, SUT1 uc003vta.3 Q9UKG4 OTTHUMG00000155539 ENST00000354042.4:c.1606-31C>T chr7.hg19:g.135369040G>A NA A4D1Q4|Q8N631 hg19 CCDS5840.1 0.02 10.208992 CACxAGA COVERED NOVEL SLC13A4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000340558.1 0 14.144692 KEEP 0 0 0 47 1584 GG 1 1 0 - 9 60 321 0 0 18.855884 291 60 10563 434 ENST00000354042.4 0.03 1 FAM180A 389558 __UNKNOWN__ __UNKNOWN__ 7 135413626 135413626 __UNKNOWN__ 5'UTR SNP C C T rs3807338 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:135413626C>T ENST00000435869.1 - 0 515 Q6UWF9 F180A_HUMAN family with sequence similarity 180, member A NA NA extracellular region (GO:0005576) endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1) 14 AAAAGGAAACCGAAGACCTTC 0.507 NA C||| 1952 0.389776 0.4478 0.2824 5008 , , NA 20062 0.378 NA 0.4115 False NA ,,, NA NA NA 2504 0.3773 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AC091736, AK290250, AK310180, AY358803 CCDS5841.1 7q33 2008-07-25 ENSG00000189320 ENSG00000189320 389558 33773 protein-coding gene gene with protein product NA 12975309, 12690205 Standard NM_205855 NM_205855 NA Approved HWKM1940, UNQ1940 uc003vtd.3 Q6UWF9 OTTHUMG00000155537 ENST00000435869.1:c.-531G>A chr7.hg19:g.135413626C>T NA B2RP85 hg19 0.02 4.396377 AACxGAA COVERED NOVEL FAM180A-002 KNOWN basic processed_transcript NA protein_coding OTTHUMT00000340555.1 1 2.928088 KEEP 0 1 32 21 670 CC 0.999879 0.999878 0 - 6 60 228 0 0 15.25379 117 60 4137 155 ENST00000435869.1 0.04878 0.999999 MTPN 136319 __UNKNOWN__ __UNKNOWN__ 7 135661631 135661631 __UNKNOWN__ Intron SNP C C T rs78943195 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:135661631C>T ENST00000393085.3 - 1 288 MTPN_ENST00000435723.1_Intron NM_001128619.2|NM_145808.3 NP_001122091.2|NP_665807.1 P58546 MTPN_HUMAN myotrophin NA NA catecholamine metabolic process (GO:0006584)|cell growth (GO:0016049)|cerebellar granule cell differentiation (GO:0021707)|neuron differentiation (GO:0030182)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell growth (GO:0030307)|positive regulation of macromolecule biosynthetic process (GO:0010557)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein metabolic process (GO:0051247)|regulation of barbed-end actin filament capping (GO:2000812)|regulation of striated muscle tissue development (GO:0016202)|regulation of translation (GO:0006417)|skeletal muscle tissue regeneration (GO:0043403)|striated muscle cell differentiation (GO:0051146) axon (GO:0030424)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|nucleus (GO:0005634) endometrium(1)|lung(4)|prostate(1) 6 CCTCCCTAGACGCCCCTCTCT 0.582 NA C||| 226 0.0451278 0.0091 0.0101 5008 , , NA 15811 0.128 NA 0.0119 False NA ,,, NA NA NA 2504 0.0675 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AC015987 CCDS5842.1 7q33-q35 2013-01-10 ENSG00000105887 ENSG00000105887 136319 Ankyrin repeat domain containing 15667 protein-coding gene gene with protein product granule cell differentiation protein 606484 NA 11474205 Standard NM_145808 NM_145808 NA Approved MYOTROPHIN, GCDP, V-1 P58546 OTTHUMG00000155627 ENST00000393085.3:c.72+145G>A chr7.hg19:g.135661631C>T NA hg19 CCDS5842.1 0.02 1.907838 AGAxGCC COVERED NOVEL MTPN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000340921.1 2 4.513004 KEEP 0 0 0 15 517 CC 0.99649 0.996295 0 - 4 60 142 0 0 9.027567 85 60 2991 109 ENST00000393085.3 0.044944 0.999804 CHRM2 1129 __UNKNOWN__ __UNKNOWN__ 7 136701308 136701308 __UNKNOWN__ 3'UTR SNP T T A rs8191992 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:136701308T>A ENST00000445907.2 + 0 2224 CHRM2_ENST00000397608.3_3'UTR|hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000592183.1_RNA|CHRM2_ENST00000402486.3_3'UTR|hsa-mir-490_ENST00000586239.1_RNA|CHRM2_ENST00000453373.1_3'UTR|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000401861.1_3'UTR|hsa-mir-490_ENST00000439694.1_RNA NM_001006627.1|NM_001006629.1 NP_001006628.1|NP_001006630.1 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 NA NA adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615) cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211) G-protein coupled acetylcholine receptor activity (GO:0016907) central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 68 Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246) GGGCTTCTGATTCTACAATTT 0.358 NA A||| 2269 0.453075 0.8298 0.3631 5008 , , NA 19001 0.1071 NA 0.5696 False NA ,,, NA NA NA 2504 0.2444 NA NA NA NA 0 GRCh37 CR022507 CHRM2 R rs8191992 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS5843.1 7q35-q36 2014-09-17 ENSG00000181072 ENSG00000181072 1129 Cholinergic receptors, GPCR / Class A : Cholinergic receptors, muscarinic 1951 protein-coding gene gene with protein product acetylcholine receptor, muscarinic 2 118493 NA Standard NM_000739 NA Approved uc003vtl.1 P08172 OTTHUMG00000155658 ENST00000445907.2:c.*295T>A chr7.hg19:g.136701308T>A NA Q4VBK6|Q9P1X9 hg19 CCDS5843.1 0.02 6.393776 TGAxTCT COVERED NOVEL CHRM2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000341010.1 0 7.221974 KEEP 0 0 0 24 757 TT 0.999909 0.999909 0 + 10 60 365 0 0 24.529709 169 60 6199 245 ENST00000445907.2 0.055866 1 CHRM2 1129 __UNKNOWN__ __UNKNOWN__ 7 136701935 136701935 __UNKNOWN__ 3'UTR SNP T T A rs6962027 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:136701935T>A ENST00000445907.2 + 0 2851 hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000439694.1_RNA NM_001006627.1|NM_001006629.1 NP_001006628.1|NP_001006630.1 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 NA NA adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615) cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211) G-protein coupled acetylcholine receptor activity (GO:0016907) central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 68 Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246) TAAGAAACCATCGTCACTGTA 0.294 NA A||| 2264 0.452077 0.8222 0.3703 5008 , , NA 19845 0.1111 NA 0.5676 False NA ,,, NA NA NA 2504 0.2423 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS5843.1 7q35-q36 2014-09-17 ENSG00000181072 ENSG00000181072 1129 Cholinergic receptors, GPCR / Class A : Cholinergic receptors, muscarinic 1951 protein-coding gene gene with protein product acetylcholine receptor, muscarinic 2 118493 NA Standard NM_000739 NA Approved uc003vtl.1 P08172 OTTHUMG00000155658 ENST00000445907.2:c.*922T>A chr7.hg19:g.136701935T>A NA Q4VBK6|Q9P1X9 hg19 CCDS5843.1 0.02 6.242338 CCAxCGT COVERED NOVEL CHRM2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000341010.1 0 8.726603 KEEP 0 0 0 29 924 TT 0.999997 0.999997 0 + 14 60 507 0 0 35.852488 171 60 6204 259 ENST00000445907.2 0.075676 1 CHRM2 1129 __UNKNOWN__ __UNKNOWN__ 7 136703376 136703376 __UNKNOWN__ 3'UTR SNP T T C rs6967953 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:136703376T>C ENST00000445907.2 + 0 4292 hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000439694.1_RNA NM_001006627.1|NM_001006629.1 NP_001006628.1|NP_001006630.1 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 NA NA adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615) cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211) G-protein coupled acetylcholine receptor activity (GO:0016907) central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 68 Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246) TTTGCTCTAATAATCCAACGC 0.408 NA C||| 2261 0.451478 0.7474 0.3905 5008 , , NA 16945 0.1121 NA 0.6272 False NA ,,, NA NA NA 2504 0.2638 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS5843.1 7q35-q36 2014-09-17 ENSG00000181072 ENSG00000181072 1129 Cholinergic receptors, GPCR / Class A : Cholinergic receptors, muscarinic 1951 protein-coding gene gene with protein product acetylcholine receptor, muscarinic 2 118493 NA Standard NM_000739 NA Approved uc003vtl.1 P08172 OTTHUMG00000155658 ENST00000445907.2:c.*2363T>C chr7.hg19:g.136703376T>C NA Q4VBK6|Q9P1X9 hg19 CCDS5843.1 0.02 8.921131 TAAxAAT COVERED NOVEL CHRM2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000341010.1 2 4.381255 KEEP 0 2 70 39 1181 TT 1 1 0 + 21 60 773 0 0 57.234295 199 60 7277 294 ENST00000445907.2 0.095455 1 DGKI 9162 __UNKNOWN__ __UNKNOWN__ 7 137074540 137074540 __UNKNOWN__ 3'UTR SNP G G A rs7779548 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:137074540G>A ENST00000453654.2 - 0 4170 DGKI_ENST00000494390.1_5'UTR O75912 DGKI_HUMAN diacylglycerol kinase, iota NA NA blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317) cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951) breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GACATTTCTGGCTAGATTCCA 0.378 NA G||| 1294 0.258387 0.0461 0.3602 5008 , , NA 19204 0.2917 NA 0.3588 False NA ,,, NA NA NA 2504 0.3354 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF061936 CCDS5845.1 7q32.3-q33 2013-01-10 ENSG00000157680 ENSG00000157680 9162 Ankyrin repeat domain containing 2855 protein-coding gene gene with protein product 604072 NA 9830018 Standard NM_004717 NM_004717 NA Approved DGK-IOTA uc003vtt.3 O75912 OTTHUMG00000155697 ENST00000453654.2:c.*1426C>T chr7.hg19:g.137074540G>A NA A4D1Q9|Q9NZ49 hg19 0.02 4.04503 CTGxCTA COVERED NOVEL DGKI-002 NOVEL basic protein_coding NA protein_coding OTTHUMT00000341287.2 4 5.116376 KEEP 0 0 0 17 602 GG 0.999366 0.999366 0 - 8 60 284 0 0 19.199627 121 60 4430 174 ENST00000453654.2 0.062016 1 DGKI 9162 __UNKNOWN__ __UNKNOWN__ 7 137074760 137074760 __UNKNOWN__ 3'UTR SNP A A G rs71533749|rs370098316|rs1376607|rs372048797 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:137074760A>G ENST00000453654.2 - 0 3950 DGKI_ENST00000494390.1_5'UTR O75912 DGKI_HUMAN diacylglycerol kinase, iota NA NA blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317) cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951) breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 TGGGTCAAGGATTACTTGGAG 0.408 NA A||| 1325 0.264577 0.0461 0.3602 5008 , , NA 16945 0.3214 NA 0.3598 False NA ,,, NA NA NA 2504 0.3354 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF061936 CCDS5845.1 7q32.3-q33 2013-01-10 ENSG00000157680 ENSG00000157680 9162 Ankyrin repeat domain containing 2855 protein-coding gene gene with protein product 604072 NA 9830018 Standard NM_004717 NM_004717 NA Approved DGK-IOTA uc003vtt.3 O75912 OTTHUMG00000155697 ENST00000453654.2:c.*1206T>C chr7.hg19:g.137074760A>G NA A4D1Q9|Q9NZ49 hg19 0.02 4.472679 AGGxTTA COVERED NOVEL DGKI-002 NOVEL basic protein_coding NA protein_coding OTTHUMT00000341287.2 0 4.513776 KEEP 0 0 0 15 487 AA 0.99649 0.996468 0 - 5 60 181 0 0 11.804523 98 60 3520 140 ENST00000453654.2 0.048544 0.999978 DGKI 9162 __UNKNOWN__ __UNKNOWN__ 7 137074761 137074761 __UNKNOWN__ 3'UTR SNP T T C rs71533749|rs1376608 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:137074761T>C ENST00000453654.2 - 0 3949 DGKI_ENST00000494390.1_5'UTR O75912 DGKI_HUMAN diacylglycerol kinase, iota NA NA blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317) cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951) breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GGGTCAAGGATTACTTGGAGT 0.408 NA T||| 1345 0.26857 0.0605 0.3617 5008 , , NA 16935 0.3214 NA 0.3598 False NA ,,, NA NA NA 2504 0.3354 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF061936 CCDS5845.1 7q32.3-q33 2013-01-10 ENSG00000157680 ENSG00000157680 9162 Ankyrin repeat domain containing 2855 protein-coding gene gene with protein product 604072 NA 9830018 Standard NM_004717 NM_004717 NA Approved DGK-IOTA uc003vtt.3 O75912 OTTHUMG00000155697 ENST00000453654.2:c.*1205A>G chr7.hg19:g.137074761T>C NA A4D1Q9|Q9NZ49 hg19 0.02 4.554413 GGAxTAC COVERED NOVEL DGKI-002 NOVEL basic protein_coding NA protein_coding OTTHUMT00000341287.2 0 4.514096 KEEP 0 0 0 15 493 TT 0.99649 0.996475 0 - 5 60 191 0 0 12.758126 100 60 3583 141 ENST00000453654.2 0.047619 0.999984 DGKI 9162 __UNKNOWN__ __UNKNOWN__ 7 137170049 137170049 __UNKNOWN__ Intron SNP A A G rs28434741 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:137170049A>G ENST00000288490.5 - 24 2428 DGKI_ENST00000446122.1_Intron|DGKI_ENST00000424189.2_Intron|DGKI_ENST00000453654.2_Intron NM_004717.2 NP_004708.1 O75912 DGKI_HUMAN diacylglycerol kinase, iota NA NA blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317) cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951) breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 AAATCAAAATAAGACATTAAT 0.358 NA G||| 835 0.166733 0.2617 0.2233 5008 , , NA 19064 0.1121 NA 0.0915 False NA ,,, NA NA NA 2504 0.1319 NA NA NA NA 0 G 311,1073 35,241,416 155 137 142 1.8 0 7 dbSNP_125 142 301,2879 10,281,1299 no intron DGKI NM_004717.2 45,522,1715 GG,GA,AA 9.4654,22.4711,13.4093 137170049 612,3952 692 1590 2282 SO:0001627 intron_variant AF061936 CCDS5845.1 7q32.3-q33 2013-01-10 ENSG00000157680 ENSG00000157680 9162 Ankyrin repeat domain containing 2855 protein-coding gene gene with protein product 604072 NA 9830018 Standard NM_004717 NM_004717 NA Approved DGK-IOTA uc003vtt.3 O75912 OTTHUMG00000155697 ENST00000288490.5:c.2427+70T>C chr7.hg19:g.137170049A>G NA A4D1Q9|Q9NZ49 hg19 CCDS5845.1 0.02 4.636494 AATxAGA COVERED NOVEL DGKI-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000341286.3 2 3.309831 KEEP 0 0 0 11 342 AA 0.993072 0.993062 0 - 6 60 219 0 0 14.728856 101 60 3586 133 ENST00000288490.5 0.056075 0.999989 TRIM24 8805 __UNKNOWN__ __UNKNOWN__ 7 138270657 138270657 __UNKNOWN__ 3'UTR SNP G G A rs1673203 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:138270657G>A ENST00000343526.4 + 0 4329 O15164 TIF1A_HUMAN tripartite motif containing 24 NA NA calcium ion homeostasis (GO:0055074)|cellular response to estrogen stimulus (GO:0071391)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of protein stability (GO:0031647)|regulation of signal transduction by p53 class mediator (GO:1901796)|regulation of vitamin D receptor signaling pathway (GO:0070562)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366) cytosol (GO:0005829)|nuclear euchromatin (GO:0005719)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726) chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|ligase activity (GO:0016874)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 40 AAAGGGACTCGTTTTTGTGGT 0.373 NA G||| 1715 0.342452 0.3321 0.2493 5008 , , NA 18186 0.499 NA 0.2207 False NA ,,, NA NA NA 2504 0.3865 NA NA NA Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014) NA 0 G 571,1181 88,395,393 126 131 129 0.3 0 7 dbSNP_89 129 836,3146 95,646,1250 no near-gene-3 183,1041,1643 AA,AG,GG 20.9945,32.5913,24.5378 138270657 1407,4327 876 1991 2867 SO:0001624 3_prime_UTR_variant AF009353 CCDS5847.1, CCDS47720.1 7q32-q34 2013-01-28 2011-01-25 2005-06-02 ENSG00000122779 ENSG00000122779 8805 Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers, Zinc fingers, PHD-type 11812 protein-coding gene gene with protein product 603406 transcriptional intermediary factor 1, tripartite motif-containing 24 TIF1 NA 9115274, 9191165 Standard NM_015905 NM_003852 NA Approved hTIF1, Tif1a, RNF82, TIF1A uc003vuc.3 O15164 OTTHUMG00000155820 ENST00000343526.4:c.*961G>A chr7.hg19:g.138270657G>A NA A4D1R7|A4D1R8|O95854 hg19 CCDS5847.1 0.02 24.93607 CTCxTTT COVERED NOVEL TRIM24-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000341814.1 3 20.766323 KEEP 0 0 0 69 2353 GG 1 1 0 + 33 60 1219 0 0 82.263189 563 60 20206 783 ENST00000343526.4 0.055369 1 SVOPL 136306 __UNKNOWN__ __UNKNOWN__ 7 138314780 138314780 __UNKNOWN__ Intron SNP C C A rs1659808 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:138314780C>A ENST00000421622.1 - 6 712 SVOPL_ENST00000419765.3_Intron|SVOPL_ENST00000436657.1_Intron|SVOPL_ENST00000288513.5_Intron Q8N434 SVOPL_HUMAN SVOP-like NA NA integral component of membrane (GO:0016021) transmembrane transporter activity (GO:0022857) NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 19 GCTTTGAAATCATTACACTCT 0.373 NA A||| 1112 0.222045 0.3359 0.196 5008 , , NA 20912 0.3423 NA 0.0835 False NA ,,, NA NA NA 2504 0.1053 NA NA NA NA 0 A , 1305,3101 697.1+/-406.2 182,941,1080 142 130 134 , -9.6 0 7 dbSNP_89 134 753,7847 785.4+/-407.6 30,693,3577 no intron,intron SVOPL NM_001139456.1,NM_174959.2 , 212,1634,4657 AA,AC,CC 8.7558,29.6187,15.8235 , , 138314780 2058,10948 2203 4300 6503 SO:0001627 intron_variant BC036796 CCDS5848.1, CCDS47721.1 7q34 2011-07-12 2007-04-04 ENSG00000157703 ENSG00000157703 136306 27034 protein-coding gene gene with protein product 611700 SV2 related protein homolog (rat)-like NA Standard NM_174959 NM_001139456 NA Approved MGC46715 uc011kqh.2 Q8N434 OTTHUMG00000155870 ENST00000421622.1:c.503+13G>T chr7.hg19:g.138314780C>A NA hg19 0.02 10.62316 AATxATT COVERED NOVEL SVOPL-004 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000342091.2 1 6.620338 KEEP 0 0 0 22 745 CC 0.999879 0.999879 0 - 21 60 715 0 0 49.12346 266 60 9818 335 ENST00000421622.1 0.073171 1 SVOPL 136306 __UNKNOWN__ __UNKNOWN__ 7 138314999 138314999 __UNKNOWN__ Intron SNP A A T rs1673164 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:138314999A>T ENST00000421622.1 - 6 638 SVOPL_ENST00000419765.3_Intron|SVOPL_ENST00000436657.1_Intron|SVOPL_ENST00000288513.5_Intron Q8N434 SVOPL_HUMAN SVOP-like NA NA integral component of membrane (GO:0016021) transmembrane transporter activity (GO:0022857) NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 19 CTCAGCTCCTATGAGTACAGC 0.428 NA A||| 951 0.189896 0.3828 0.1124 5008 , , NA 18714 0.2569 NA 0.0676 False NA ,,, NA NA NA 2504 0.0409 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC036796 CCDS5848.1, CCDS47721.1 7q34 2011-07-12 2007-04-04 ENSG00000157703 ENSG00000157703 136306 27034 protein-coding gene gene with protein product 611700 SV2 related protein homolog (rat)-like NA Standard NM_174959 NM_001139456 NA Approved MGC46715 uc011kqh.2 Q8N434 OTTHUMG00000155870 ENST00000421622.1:c.430-132T>A chr7.hg19:g.138314999A>T NA hg19 0.02 8.147644 CCTxTGA COVERED NOVEL SVOPL-004 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000342091.2 0 6.618977 KEEP 0 0 0 22 660 AA 0.999879 0.999879 0 - 12 60 426 0 0 27.645611 228 60 8283 277 ENST00000421622.1 0.05 1 SVOPL 136306 __UNKNOWN__ __UNKNOWN__ 7 138329572 138329572 __UNKNOWN__ Missense_Mutation SNP G G A rs79848686 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:138329572G>A ENST00000421622.1 - 5 527 c.319C>T c.(319-321)Cgg>Tgg p.R107W SVOPL_ENST00000419765.3_Missense_Mutation_p.R227W|SVOPL_ENST00000436657.1_Missense_Mutation_p.R75W|SVOPL_ENST00000288513.5_Missense_Mutation_p.R75W Q8N434 SVOPL_HUMAN SVOP-like 227 NA integral component of membrane (GO:0016021) transmembrane transporter activity (GO:0022857) NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 19 ACATTGAACCGGGCAGATTCA 0.532 NA G||| 56 0.0111821 0.0 0.0 5008 , , NA 16782 0.0546 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 70 73 72 NA NA 7 NA 138329572 2203 4300 6503 SO:0001583 missense BC036796 CCDS5848.1, CCDS47721.1 7q34 2011-07-12 2007-04-04 ENSG00000157703 ENSG00000157703 136306 27034 protein-coding gene gene with protein product 611700 SV2 related protein homolog (rat)-like NA Standard NM_174959 NM_001139456 NA Approved MGC46715 uc011kqh.2 Q8N434 OTTHUMG00000155870 ENST00000421622.1:c.319C>T chr7.hg19:g.138329572G>A ENSP00000412830:p.Arg107Trp NA hg19 0.02 9.128867 ACCxGGC COVERED 29 0.013278388278388278 0 0.0 0 0.0 29 0.050699300699300696 0 0.0 G 17.02 3.280815 0.59758 . . ENSG00000157703 ENST00000288513;ENST00000421622;ENST00000436657;ENST00000419765 T;T;T;T 0.79653 -1.29;-1.29;-1.29;0.23 5.06 3.25 0.37280 Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1); 0.000000 0.85682 D 0.000000 T 0.66877 0.2834 M 0.90145 3.09 0.51012 D 0.999905 D;D 0.89917 1.0;1.0 D;D 0.97110 1.0;0.999 T 0.80139 -0.1507 10 0.87932 D 0 -11.4021 9.8283 0.40925 0.0739:0.0:0.7874:0.1388 . 227;75 Q8N434;Q8N434-2 SVOPL_HUMAN;. W 75;107;75;227 ENSP00000288513:R75W;ENSP00000412830:R107W;ENSP00000417018:R75W;ENSP00000405482:R227W ENSP00000288513:R75W R - 1 2 SVOPL 137980112 1.000000 0.71417 0.877000 0.34402 0.493000 0.33554 5.461000 0.66699 0.527000 0.28560 -0.175000 0.13238 CGG NOVEL SVOPL-004 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000342091.2 2 11.436862 KEEP 0 0 0 38 1307 GG 1 1 0 - 16 60 598 0 0 42.953372 192 60 6654 319 ENST00000421622.1 0.076923 1 ATP6V0A4 50617 __UNKNOWN__ __UNKNOWN__ 7 138413560 138413560 __UNKNOWN__ Silent SNP C C T rs141411124 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:138413560C>T ENST00000310018.2 - 18 2238 c.1956G>A c.(1954-1956)ccG>ccA p.P652P ATP6V0A4_ENST00000393054.1_Silent_p.P652P|ATP6V0A4_ENST00000353492.4_Silent_p.P652P NM_020632.2|NM_130840.2 NP_065683.2|NP_570855.2 Q9HBG4 VPP4_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a4 652 NA ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085) apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220) ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078) NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 GAAGCATCCACGGCACAGAAA 0.433 NA C||| 18 0.00359425 0.0 0.0 5008 , , NA 19121 0.0159 NA 0.002 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 C ,, 2,4404 4.2+/-10.8 0,2,2201 204 194 197 1956,1956,1956 -11.4 0.3 7 dbSNP_134 197 1,8599 1.2+/-3.3 0,1,4299 no coding-synonymous,coding-synonymous,coding-synonymous ATP6V0A4 NM_020632.2,NM_130840.2,NM_130841.2 ,, 0,3,6500 TT,TC,CC 0.0116,0.0454,0.0231 ,, 652/841,652/841,652/841 138413560 3,13003 2203 4300 6503 SO:0001819 synonymous_variant AF245517 CCDS5849.1 7q34 2011-06-09 2006-01-20 2002-05-10 ENSG00000105929 ENSG00000105929 50617 ATPases / V-type 866 protein-coding gene gene with protein product 605239 ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B, ATPase, H+ transporting, lysosomal V0 subunit a isoform 4, ATPase, H+ transporting, lysosomal V0 subunit A4 ATP6N1B, ATP6N2, RTA1C NA 10577919, 10973252 Standard NM_020632 XM_005250393 NA Approved RDRTA2, VPP2, RTADR, a4, Vph1, Stv1 uc003vuf.3 Q9HBG4 OTTHUMG00000157122 ENST00000310018.2:c.1956G>A chr7.hg19:g.138413560C>T NA A4D1R4|A8KA80|Q32M47 hg19 CCDS5849.1 0.02 18.596197 CCAxGGC COVERED NOVEL ATP6V0A4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347514.1 3 19.859649 KEEP 0 0 0 66 2283 CC 1 1 0 - 27 60 1002 0 0 69.838773 384 60 13648 596 ENST00000310018.2 0.065693 1 ATP6V0A4 50617 __UNKNOWN__ __UNKNOWN__ 7 138441124 138441124 __UNKNOWN__ Intron SNP A A G rs296910 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:138441124A>G ENST00000310018.2 - 9 1005 ATP6V0A4_ENST00000393054.1_Intron|ATP6V0A4_ENST00000353492.4_Intron NM_020632.2|NM_130840.2 NP_065683.2|NP_570855.2 Q9HBG4 VPP4_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a4 NA NA ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085) apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220) ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078) NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 AGCCACAGTCATGTGCATTTG 0.393 NA G||| 3207 0.640375 0.8548 0.6239 5008 , , NA 17227 0.5625 NA 0.5795 False NA ,,, NA NA NA 2504 0.5051 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF245517 CCDS5849.1 7q34 2011-06-09 2006-01-20 2002-05-10 ENSG00000105929 ENSG00000105929 50617 ATPases / V-type 866 protein-coding gene gene with protein product 605239 ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B, ATPase, H+ transporting, lysosomal V0 subunit a isoform 4, ATPase, H+ transporting, lysosomal V0 subunit A4 ATP6N1B, ATP6N2, RTA1C NA 10577919, 10973252 Standard NM_020632 XM_005250393 NA Approved RDRTA2, VPP2, RTADR, a4, Vph1, Stv1 uc003vuf.3 Q9HBG4 OTTHUMG00000157122 ENST00000310018.2:c.722+78T>C chr7.hg19:g.138441124A>G NA A4D1R4|A8KA80|Q32M47 hg19 CCDS5849.1 0.02 15.627694 GTCxTGT COVERED NOVEL ATP6V0A4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347514.1 1 5.050556 KEEP 0 1 35 29 929 AA 0.999997 0.999997 0 - 24 60 810 0 0 54.438977 328 60 12068 437 ENST00000310018.2 0.068182 1 ATP6V0A4 50617 __UNKNOWN__ __UNKNOWN__ 7 138446998 138446998 __UNKNOWN__ Intron SNP A A G rs3823499 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:138446998A>G ENST00000310018.2 - 7 795 ATP6V0A4_ENST00000393054.1_Intron|ATP6V0A4_ENST00000353492.4_Intron|ATP6V0A4_ENST00000483139.1_Intron NM_020632.2|NM_130840.2 NP_065683.2|NP_570855.2 Q9HBG4 VPP4_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a4 NA NA ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085) apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220) ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078) NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 CCCCATTCCAATGGCTATTTG 0.488 NA A||| 772 0.154153 0.1316 0.0634 5008 , , NA 18196 0.377 NA 0.0895 False NA ,,, NA NA NA 2504 0.0859 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF245517 CCDS5849.1 7q34 2011-06-09 2006-01-20 2002-05-10 ENSG00000105929 ENSG00000105929 50617 ATPases / V-type 866 protein-coding gene gene with protein product 605239 ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B, ATPase, H+ transporting, lysosomal V0 subunit a isoform 4, ATPase, H+ transporting, lysosomal V0 subunit A4 ATP6N1B, ATP6N2, RTA1C NA 10577919, 10973252 Standard NM_020632 XM_005250393 NA Approved RDRTA2, VPP2, RTADR, a4, Vph1, Stv1 uc003vuf.3 Q9HBG4 OTTHUMG00000157122 ENST00000310018.2:c.512+86T>C chr7.hg19:g.138446998A>G NA A4D1R4|A8KA80|Q32M47 hg19 CCDS5849.1 0.02 9.306698 CCAxTGG COVERED NOVEL ATP6V0A4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347514.1 1 6.921315 KEEP 0 0 0 23 738 AA 0.999892 0.999892 0 - 14 60 481 0 0 31.887112 219 60 7740 284 ENST00000310018.2 0.060086 1 KIAA1549 57670 __UNKNOWN__ __UNKNOWN__ 7 138518690 138518690 __UNKNOWN__ 3'UTR SNP A A C rs878993 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:138518690A>C ENST00000440172.1 - 0 9814 KIAA1549_ENST00000242365.4_3'UTR|TMEM213_ENST00000413208.1_Intron NM_001164665.1|NM_020910.2 NP_001158137.1|NP_065961.2 Q9HCM3 K1549_HUMAN KIAA1549 NA NA integral component of membrane (GO:0016021) KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 TTCTGTCCCCATATCAAAGCA 0.498 NA O BRAF pilocytic astrocytoma A||| 231 0.0461262 0.1188 0.013 5008 , , NA 18665 0.0496 NA 0.002 False NA ,,, NA NA NA 2504 0.0133 NA NA NA NSCLC(119;1534 1718 44213 46230 50068) Dom yes 7 7q34 57670 KIAA1549 O 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS47723.1, CCDS47723.2, CCDS56513.1 7q34 2009-10-09 ENSG00000122778 ENSG00000122778 57670 22219 protein-coding gene gene with protein product 613344 NA Standard NM_020910 NA Approved uc011kql.2 Q9HCM3 OTTHUMG00000157214 ENST00000440172.1:c.*3961T>G chr7.hg19:g.138518690A>C NA B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3 hg19 CCDS47723.2 0.02 11.320673 CCCxTAT COVERED NOVEL KIAA1549-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000347938.2 1 8.726773 KEEP 0 0 0 29 920 AA 0.999997 0.999997 0 - 10 60 372 1 0 23.134767 277 60 10279 386 ENST00000440172.1 0.034843 1 KIAA1549 57670 __UNKNOWN__ __UNKNOWN__ 7 138518783 138518783 __UNKNOWN__ 3'UTR SNP C C T rs878992 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:138518783C>T ENST00000440172.1 - 0 9721 KIAA1549_ENST00000242365.4_3'UTR|TMEM213_ENST00000413208.1_Intron NM_001164665.1|NM_020910.2 NP_001158137.1|NP_065961.2 Q9HCM3 K1549_HUMAN KIAA1549 NA NA integral component of membrane (GO:0016021) KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 CTTCCTTCCACGCCATTTGCC 0.498 NA O BRAF pilocytic astrocytoma C||| 1281 0.255791 0.4047 0.1354 5008 , , NA 19513 0.3353 NA 0.1451 False NA ,,, NA NA NA 2504 0.1718 NA NA NA NSCLC(119;1534 1718 44213 46230 50068) Dom yes 7 7q34 57670 KIAA1549 O 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS47723.1, CCDS47723.2, CCDS56513.1 7q34 2009-10-09 ENSG00000122778 ENSG00000122778 57670 22219 protein-coding gene gene with protein product 613344 NA Standard NM_020910 NA Approved uc011kql.2 Q9HCM3 OTTHUMG00000157214 ENST00000440172.1:c.*3868G>A chr7.hg19:g.138518783C>T NA B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3 hg19 CCDS47723.2 0.02 5.906488 CCAxGCC COVERED NOVEL KIAA1549-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000347938.2 3 5.718618 KEEP 0 0 0 19 666 CC 0.99986 0.99986 0 - 9 60 332 0 0 21.785283 180 60 6287 256 ENST00000440172.1 0.047619 1 KIAA1549 57670 __UNKNOWN__ __UNKNOWN__ 7 138521625 138521625 __UNKNOWN__ 3'UTR SNP T T C rs17160567 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:138521625T>C ENST00000440172.1 - 0 6879 KIAA1549_ENST00000242365.4_3'UTR|TMEM213_ENST00000413208.1_Intron NM_001164665.1|NM_020910.2 NP_001158137.1|NP_065961.2 Q9HCM3 K1549_HUMAN KIAA1549 NA NA integral component of membrane (GO:0016021) KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 TAGGGATGTATGTATAACAAT 0.363 NA O BRAF pilocytic astrocytoma T||| 320 0.0638978 0.1808 0.0173 5008 , , NA 19915 0.0536 NA 0.002 False NA ,,, NA NA NA 2504 0.0133 NA NA NA NSCLC(119;1534 1718 44213 46230 50068) Dom yes 7 7q34 57670 KIAA1549 O 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS47723.1, CCDS47723.2, CCDS56513.1 7q34 2009-10-09 ENSG00000122778 ENSG00000122778 57670 22219 protein-coding gene gene with protein product 613344 NA Standard NM_020910 NA Approved uc011kql.2 Q9HCM3 OTTHUMG00000157214 ENST00000440172.1:c.*1026A>G chr7.hg19:g.138521625T>C NA B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3 hg19 CCDS47723.2 0.02 7.37127 GTAxGTA COVERED NOVEL KIAA1549-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000347938.2 0 7.519645 KEEP 0 0 0 25 776 TT 0.999931 0.999931 0 - 10 60 332 0 0 20.421123 205 60 7633 280 ENST00000440172.1 0.046512 1 KIAA1549 57670 __UNKNOWN__ __UNKNOWN__ 7 138602523 138602523 __UNKNOWN__ Missense_Mutation SNP T T C rs2774962 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:138602523T>C ENST00000422774.1 - 2 1897 c.1849A>G c.(1849-1851)Aga>Gga p.R617G KIAA1549_ENST00000242365.4_Missense_Mutation_p.R567G|KIAA1549_ENST00000440172.1_Missense_Mutation_p.R617G Q9HCM3 K1549_HUMAN KIAA1549 617 Ser-rich. NA R -> G (in Ref. 3; BAB13375). {ECO:0000305}. integral component of membrane (GO:0016021) p.R617G(1) KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 AAAGCACCTCTGGGTTTATGC 0.498 NA O BRAF pilocytic astrocytoma C||| 2502 0.499601 0.944 0.2867 5008 , , NA 20995 0.2024 NA 0.4175 False NA ,,, NA NA NA 2504 0.4407 NA NA NA NSCLC(119;1534 1718 44213 46230 50068) Dom yes 7 7q34 57670 KIAA1549 O 1 Substitution - Missense(1) stomach(1) C GLY/ARG,GLY/ARG 3201,563 1361,479,42 38 43 41 1849,1849 0.9 0 7 dbSNP_100 41 3231,4987 665,1901,1543 yes missense,missense KIAA1549 NM_001164665.1,NM_020910.2 125,125 2026,2380,1585 CC,CT,TT 39.3161,14.9575,46.3195 benign,benign 617/1951,617/1935 138602523 6432,5550 1882 4109 5991 SO:0001583 missense CCDS47723.1, CCDS47723.2, CCDS56513.1 7q34 2009-10-09 ENSG00000122778 ENSG00000122778 57670 22219 protein-coding gene gene with protein product 613344 NA Standard NM_020910 NA Approved uc011kql.2 Q9HCM3 OTTHUMG00000157214 ENST00000422774.1:c.1849A>G chr7.hg19:g.138602523T>C ENSP00000416040:p.Arg617Gly NA B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3 hg19 CCDS56513.1 0.02 8.422641 CTCxGGG COVERED 994 0.4551282051282051 458 0.9308943089430894 107 0.2955801104972376 124 0.21678321678321677 305 0.4023746701846966 C 2.367 -0.345193 0.05208 0.850425 0.393161 ENSG00000122778 ENST00000440172;ENST00000242365;ENST00000422774 T;T;T 0.22945 1.93;1.93;1.93 3.97 0.882 0.19172 . 1.384970 0.04733 N 0.421435 T 0.00012 0.0000 N 0.03608 -0.345 0.80722 P 0.0 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.21999 -1.0229 9 0.21540 T 0.41 . 3.4217 0.07396 0.2007:0.3444:0.0:0.4549 rs2774962;rs3735010;rs10376674;rs17605959;rs52812915;rs56602304;rs58455329;rs2774962 617;617 Q9HCM3;Q9HCM3-2 K1549_HUMAN;. G 617;567;617 ENSP00000406661:R617G;ENSP00000242365:R567G;ENSP00000416040:R617G ENSP00000242365:R567G R - 1 2 KIAA1549 138253063 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -0.204000 0.09425 0.061000 0.16311 -0.186000 0.12905 AGA NOVEL KIAA1549-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000348092.1 1 5.586735 KEEP 0 2 70 43 1336 TT 1 1 0 - 12 60 420 0 0 27.509825 208 60 7768 315 ENST00000422774.1 0.054545 1 ZC3HAV1L 92092 __UNKNOWN__ __UNKNOWN__ 7 138713715 138713715 __UNKNOWN__ Intron SNP G G C rs11767739 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:138713715G>C ENST00000275766.1 - 3 513 NM_080660.3 NP_542391.2 Q96H79 ZCCHL_HUMAN zinc finger CCCH-type, antiviral 1-like NA NA NS(2)|endometrium(2)|large_intestine(1)|lung(4)|skin(1) 10 ACCTGGTACAGAAATGAGGGA 0.458 NA G||| 1871 0.373602 0.3828 0.3357 5008 , , NA 21688 0.2262 NA 0.504 False NA ,,, NA NA NA 2504 0.4059 NA NA NA NA 0 G 1820,2586 532.0+/-373.3 362,1096,745 64 62 63 4.4 0.1 7 dbSNP_120 63 4481,4119 589.9+/-392.6 1185,2111,1004 no intron ZC3HAV1L NM_080660.3 1547,3207,1749 CC,CG,GG 47.8953,41.3073,48.4469 138713715 6301,6705 2203 4300 6503 SO:0001627 intron_variant BC008842 CCDS5850.1 7q34 2006-07-03 2006-07-03 2006-07-03 ENSG00000146858 ENSG00000146858 92092 22423 protein-coding gene gene with protein product chromosome 7 open reading frame 39 C7orf39 NA Standard NM_080660 NM_080660 NA Approved MGC14289 uc003vum.1 Q96H79 OTTHUMG00000157229 ENST00000275766.1:c.502-9C>G chr7.hg19:g.138713715G>C NA Q8WUD9 hg19 CCDS5850.1 0.02 6.719544 ACAxAAA COVERED NOVEL ZC3HAV1L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000348090.1 3 11.135884 KEEP 0 0 0 37 1316 GG 1 1 0 - 6 60 225 0 0 14.004486 170 70 6261 249 ENST00000275766.1 0.034091 1 ZC3HAV1L 92092 __UNKNOWN__ __UNKNOWN__ 7 138719231 138719231 __UNKNOWN__ Intron SNP T T C rs7810237 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:138719231T>C ENST00000275766.1 - 2 513 NM_080660.3 NP_542391.2 Q96H79 ZCCHL_HUMAN zinc finger CCCH-type, antiviral 1-like NA NA NS(2)|endometrium(2)|large_intestine(1)|lung(4)|skin(1) 10 AAAAGAAAAATAAATGGGGAA 0.388 NA T||| 2736 0.546326 0.7799 0.3646 5008 , , NA 19993 0.3442 NA 0.5278 False NA ,,, NA NA NA 2504 0.5869 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC008842 CCDS5850.1 7q34 2006-07-03 2006-07-03 2006-07-03 ENSG00000146858 ENSG00000146858 92092 22423 protein-coding gene gene with protein product chromosome 7 open reading frame 39 C7orf39 NA Standard NM_080660 NM_080660 NA Approved MGC14289 uc003vum.1 Q96H79 OTTHUMG00000157229 ENST00000275766.1:c.501+57A>G chr7.hg19:g.138719231T>C NA Q8WUD9 hg19 CCDS5850.1 0.02 9.500203 AAAxAAA COVERED NOVEL ZC3HAV1L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000348090.1 5 9.288439 KEEP 0 2 69 55 1646 TT 1 1 0 - 10 60 354 1 0 23.079987 201 60 7384 326 ENST00000275766.1 0.047393 1 ZC3HAV1 56829 __UNKNOWN__ __UNKNOWN__ 7 138729795 138729795 __UNKNOWN__ 3'UTR SNP A A C rs10271373 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:138729795A>C ENST00000242351.5 - 0 5570 NM_020119.3 NP_064504.2 Q7Z2W4 ZCCHV_HUMAN zinc finger CCCH-type, antiviral 1 NA NA defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886) metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822) cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1) 37 gcatctgactacttcattagg 0.313 NA A||| 2145 0.428315 0.4697 0.3617 5008 , , NA 17918 0.3353 NA 0.5149 False NA ,,, NA NA NA 2504 0.4264 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BX571742 CCDS5851.1, CCDS55171.1 7q34 2012-07-05 ENSG00000105939 ENSG00000105939 56829 Zinc fingers, CCCH-type domain containing, Poly (ADP-ribose) polymerases 23721 protein-coding gene gene with protein product zinc finger antiviral protein, CCCH-type zinc finger antiviral protein 607312 NA 12215647, 12851707 Standard NM_020119 NM_024625 NA Approved ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13 uc003vun.3 Q7Z2W4 OTTHUMG00000157471 ENST00000242351.5:c.*2545T>G chr7.hg19:g.138729795A>C NA A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7 hg19 CCDS5851.1 0.02 8.548996 ACTxCTT COVERED NOVEL ZC3HAV1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000348915.1 0 5.648956 KEEP 0 1 35 31 931 AA 0.999997 0.999997 0 - 7 60 257 0 0 15.618194 210 60 7284 294 ENST00000242351.5 0.032258 1 ZC3HAV1 56829 __UNKNOWN__ __UNKNOWN__ 7 138731398 138731398 __UNKNOWN__ 3'UTR SNP T T C rs1047129 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:138731398T>C ENST00000242351.5 - 0 3967 ZC3HAV1_ENST00000464606.1_3'UTR NM_020119.3 NP_064504.2 Q7Z2W4 ZCCHV_HUMAN zinc finger CCCH-type, antiviral 1 NA NA defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886) metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822) cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1) 37 AATGTAGCGATAAAGAAAAGG 0.418 NA T||| 2117 0.422724 0.472 0.3501 5008 , , NA 17787 0.3333 NA 0.493 False NA ,,, NA NA NA 2504 0.4274 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BX571742 CCDS5851.1, CCDS55171.1 7q34 2012-07-05 ENSG00000105939 ENSG00000105939 56829 Zinc fingers, CCCH-type domain containing, Poly (ADP-ribose) polymerases 23721 protein-coding gene gene with protein product zinc finger antiviral protein, CCCH-type zinc finger antiviral protein 607312 NA 12215647, 12851707 Standard NM_020119 NM_024625 NA Approved ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13 uc003vun.3 Q7Z2W4 OTTHUMG00000157471 ENST00000242351.5:c.*942A>G chr7.hg19:g.138731398T>C NA A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7 hg19 CCDS5851.1 0.02 6.666385 CGAxAAA COVERED NOVEL ZC3HAV1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000348915.1 1 5.6518 KEEP 0 1 38 32 987 TT 0.999998 0.999998 0 - 6 60 231 0 0 14.512571 176 60 6427 246 ENST00000242351.5 0.032967 1 ZC3HAV1 56829 __UNKNOWN__ __UNKNOWN__ 7 138731687 138731687 __UNKNOWN__ 3'UTR SNP A A G rs2354335 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:138731687A>G ENST00000242351.5 - 0 3678 ZC3HAV1_ENST00000464606.1_3'UTR NM_020119.3 NP_064504.2 Q7Z2W4 ZCCHV_HUMAN zinc finger CCCH-type, antiviral 1 NA NA defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886) metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822) cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1) 37 GGTTGCTGCAATTACAGAAAA 0.343 NA A||| 2120 0.423323 0.4743 0.3501 5008 , , NA 19379 0.3333 NA 0.493 False NA ,,, NA NA NA 2504 0.4274 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BX571742 CCDS5851.1, CCDS55171.1 7q34 2012-07-05 ENSG00000105939 ENSG00000105939 56829 Zinc fingers, CCCH-type domain containing, Poly (ADP-ribose) polymerases 23721 protein-coding gene gene with protein product zinc finger antiviral protein, CCCH-type zinc finger antiviral protein 607312 NA 12215647, 12851707 Standard NM_020119 NM_024625 NA Approved ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13 uc003vun.3 Q7Z2W4 OTTHUMG00000157471 ENST00000242351.5:c.*653T>C chr7.hg19:g.138731687A>G NA A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7 hg19 CCDS5851.1 0.02 12.016184 GCAxTTA COVERED NOVEL ZC3HAV1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000348915.1 3 13.841549 KEEP 0 0 0 46 1459 AA 1 1 0 - 10 60 388 0 0 24.904985 266 60 9768 408 ENST00000242351.5 0.036232 1 ZC3HAV1 56829 __UNKNOWN__ __UNKNOWN__ 7 138732107 138732107 __UNKNOWN__ 3'UTR SNP C C T rs5022943 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:138732107C>T ENST00000242351.5 - 0 3258 ZC3HAV1_ENST00000464606.1_3'UTR NM_020119.3 NP_064504.2 Q7Z2W4 ZCCHV_HUMAN zinc finger CCCH-type, antiviral 1 NA NA defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886) metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822) cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1) 37 atacaactgcctggcgctgac 0.438 NA C||| 1846 0.36861 0.2693 0.3458 5008 , , NA 14174 0.3343 NA 0.492 False NA ,,, NA NA NA 2504 0.4274 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BX571742 CCDS5851.1, CCDS55171.1 7q34 2012-07-05 ENSG00000105939 ENSG00000105939 56829 Zinc fingers, CCCH-type domain containing, Poly (ADP-ribose) polymerases 23721 protein-coding gene gene with protein product zinc finger antiviral protein, CCCH-type zinc finger antiviral protein 607312 NA 12215647, 12851707 Standard NM_020119 NM_024625 NA Approved ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13 uc003vun.3 Q7Z2W4 OTTHUMG00000157471 ENST00000242351.5:c.*233G>A chr7.hg19:g.138732107C>T NA A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7 hg19 CCDS5851.1 0.02 8.149667 TGCxTGG COVERED NOVEL ZC3HAV1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000348915.1 15 13.346258 KEEP 0 3 87 75 2714 CC 1 1 0 - 10 60 351 0 1 22.278327 207 70 7412 374 ENST00000242351.5 0.046083 1 ZC3HAV1 56829 __UNKNOWN__ __UNKNOWN__ 7 138732457 138732457 __UNKNOWN__ Silent SNP G G A rs3735008 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:138732457G>A ENST00000242351.5 - 13 2908 c.2592C>T c.(2590-2592)ttC>ttT p.F864F ZC3HAV1_ENST00000464606.1_Silent_p.F986F NM_020119.3 NP_064504.2 Q7Z2W4 ZCCHV_HUMAN zinc finger CCCH-type, antiviral 1 864 PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}. NA defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886) metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822) p.F864L(1) cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1) 37 CACAGCTGTCGAACTGTGGAG 0.428 NA G||| 2122 0.423722 0.475 0.3501 5008 , , NA 17669 0.3343 NA 0.493 False NA ,,, NA NA NA 2504 0.4274 NA NA NA NA 1 Substitution - Missense(1) large_intestine(1) G 2072,2334 569.8+/-382.7 492,1088,623 153 149 150 2592 0.2 0 7 dbSNP_107 150 4310,4290 578.1+/-390.7 1107,2096,1097 yes coding-synonymous ZC3HAV1 NM_020119.3 1599,3184,1720 AA,AG,GG 49.8837,47.0268,49.0697 864/903 138732457 6382,6624 2203 4300 6503 SO:0001819 synonymous_variant BX571742 CCDS5851.1, CCDS55171.1 7q34 2012-07-05 ENSG00000105939 ENSG00000105939 56829 Zinc fingers, CCCH-type domain containing, Poly (ADP-ribose) polymerases 23721 protein-coding gene gene with protein product zinc finger antiviral protein, CCCH-type zinc finger antiviral protein 607312 NA 12215647, 12851707 Standard NM_020119 NM_024625 NA Approved ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13 uc003vun.3 Q7Z2W4 OTTHUMG00000157471 ENST00000242351.5:c.2592C>T chr7.hg19:g.138732457G>A NA A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7 hg19 CCDS5851.1 0.02 16.888434 GTCxAAC COVERED NOVEL ZC3HAV1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000348915.1 3 9.731392 KEEP 0 3 93 65 2191 GG 1 1 0 - 12 60 447 0 0 26.5873 423 60 14957 597 ENST00000242351.5 0.027586 1 ZC3HAV1 56829 __UNKNOWN__ __UNKNOWN__ 7 138740037 138740037 __UNKNOWN__ Missense_Mutation SNP G G C rs2297236 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:138740037G>C ENST00000242351.5 - 10 2417 c.2101C>G c.(2101-2103)Cag>Gag p.Q701E ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.Q823E NM_020119.3 NP_064504.2 Q7Z2W4 ZCCHV_HUMAN zinc finger CCCH-type, antiviral 1 701 NA Q -> E (in dbSNP:rs2297236). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005}. defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886) metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822) p.Q701E(1) cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1) 37 TTTGCTGGCTGATGGCTACAA 0.443 NA G||| 2830 0.565096 0.4629 0.5879 5008 , , NA 17578 0.6776 NA 0.5586 False NA ,,, NA NA NA 2504 0.5777 NA NA NA NA 1 Substitution - Missense(1) prostate(1) G GLU/GLN 2024,2382 562.9+/-381.1 494,1036,673 74 73 74 2101 1.8 0 7 dbSNP_100 74 4874,3726 617.9+/-396.7 1388,2098,814 yes missense ZC3HAV1 NM_020119.3 29 1882,3134,1487 CC,CG,GG 43.3256,45.9374,46.9629 possibly-damaging 701/903 138740037 6898,6108 2203 4300 6503 SO:0001583 missense BX571742 CCDS5851.1, CCDS55171.1 7q34 2012-07-05 ENSG00000105939 ENSG00000105939 56829 Zinc fingers, CCCH-type domain containing, Poly (ADP-ribose) polymerases 23721 protein-coding gene gene with protein product zinc finger antiviral protein, CCCH-type zinc finger antiviral protein 607312 NA 12215647, 12851707 Standard NM_020119 NM_024625 NA Approved ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13 uc003vun.3 Q7Z2W4 OTTHUMG00000157471 ENST00000242351.5:c.2101C>G chr7.hg19:g.138740037G>C ENSP00000242351:p.Gln701Glu NA A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7 hg19 CCDS5851.1 0.02 4.8376 GCTxATG COVERED 1263 0.5782967032967034 236 0.4796747967479675 203 0.5607734806629834 396 0.6923076923076923 428 0.5646437994722955 G 9.696 1.153136 0.21371 0.459374 0.566744 ENSG00000105939 ENST00000242351;ENST00000464606 T;T 0.06933 3.3;3.24 3.68 1.78 0.24846 . 0.662632 0.13300 N 0.398338 T 0.00012 0.0000 M 0.70595 2.14 0.58432 P 1.0000000000287557E-6 B 0.21452 0.056 B 0.19148 0.024 T 0.26815 -1.0092 9 0.12103 T 0.63 . 6.474 0.22024 0.0:0.2016:0.5901:0.2083 rs2297236;rs17682077;rs52835032;rs57637678;rs2297236 701 Q7Z2W4 ZCCHV_HUMAN E 701;823 ENSP00000242351:Q701E;ENSP00000418385:Q823E ENSP00000242351:Q701E Q - 1 0 ZC3HAV1 138390577 0.003000 0.15002 0.030000 0.17652 0.039000 0.13416 0.699000 0.25586 0.508000 0.28173 0.591000 0.81541 CAG NOVEL ZC3HAV1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000348915.1 0 7.825282 KEEP 0 0 0 26 905 GG 0.999957 0.999957 0 - 11 60 424 0 0 30.87936 130 60 4872 185 ENST00000242351.5 0.078014 1 ZC3HAV1 56829 __UNKNOWN__ __UNKNOWN__ 7 138761034 138761034 __UNKNOWN__ Missense_Mutation SNP G G C rs2297241 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:138761034G>C ENST00000242351.5 - 6 2011 c.1695C>G c.(1693-1695)caC>caG p.H565Q ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.H565Q|ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.H687Q NM_020119.3 NP_064504.2 Q7Z2W4 ZCCHV_HUMAN zinc finger CCCH-type, antiviral 1 565 NA H -> Q (in dbSNP:rs2297241). {ECO:0000269|PubMed:14702039, ECO:0000269|Ref.1}. defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886) metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822) cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1) 37 CAACTTACAGGTGGATTCCGG 0.468 NA G||| 1207 0.241014 0.2398 0.3444 5008 , , NA 20631 0.3929 NA 0.1233 False NA ,,, NA NA NA 2504 0.1339 NA NA NA NA 0 G GLN/HIS,GLN/HIS 988,3418 370.3+/-319.5 120,748,1335 151 142 145 1695,1695 -2.9 0 7 dbSNP_100 145 1137,7463 235.1+/-267.8 69,999,3232 yes missense,missense ZC3HAV1 NM_020119.3,NM_024625.3 24,24 189,1747,4567 CC,CG,GG 13.2209,22.424,16.3386 benign,benign 565/903,565/700 138761034 2125,10881 2203 4300 6503 SO:0001583 missense BX571742 CCDS5851.1, CCDS55171.1 7q34 2012-07-05 ENSG00000105939 ENSG00000105939 56829 Zinc fingers, CCCH-type domain containing, Poly (ADP-ribose) polymerases 23721 protein-coding gene gene with protein product zinc finger antiviral protein, CCCH-type zinc finger antiviral protein 607312 NA 12215647, 12851707 Standard NM_020119 NM_024625 NA Approved ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13 uc003vun.3 Q7Z2W4 OTTHUMG00000157471 ENST00000242351.5:c.1695C>G chr7.hg19:g.138761034G>C ENSP00000242351:p.His565Gln NA A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7 hg19 CCDS5851.1 0.02 9.1919 CAGxTGG COVERED 573|573 0.2623626373626374|0.2623626373626374 124|124 0.25203252032520324|0.25203252032520324 112|112 0.30939226519337015|0.30939226519337015 241|241 0.42132867132867136|0.42132867132867136 96|96 0.1266490765171504|0.1266490765171504 G|G 7.208|7.208 0.594847|0.594847 0.13875|0.13875 0.22424|0.22424 0.132209|0.132209 ENSG00000105939|ENSG00000105939 ENST00000242351;ENST00000464606;ENST00000471652;ENST00000540247|ENST00000460845 T;T;T|. 0.16897|. 3.33;3.32;2.31|. 5.14|5.14 -2.93|-2.93 0.05598|0.05598 .|. 3.503140|. 0.00575|. N|. 0.000302|. T|T 0.00012|0.00012 0.0000|0.0000 L|L 0.51422|0.51422 1.61|1.61 0.80722|0.80722 P|P 0.0|0.0 B;B|. 0.06786|. 0.001;0.0|. B;B|. 0.06405|. 0.002;0.0|. T|T 0.41945|0.41945 -0.9480|-0.9480 9|4 0.15499|. T|. 0.54|. .|. 1.9853|1.9853 0.03435|0.03435 0.2468:0.2353:0.4042:0.1138|0.2468:0.2353:0.4042:0.1138 rs2297241;rs10353718;rs52819929;rs59789226;rs2297241|rs2297241;rs10353718;rs52819929;rs59789226;rs2297241 565;565|. Q7Z2W4-2;Q7Z2W4|. .;ZCCHV_HUMAN|. Q|A 565;687;565;325|130 ENSP00000242351:H565Q;ENSP00000418385:H687Q;ENSP00000419855:H565Q|. ENSP00000242351:H565Q|. H|P -|- 3|1 2|0 ZC3HAV1|ZC3HAV1 138411574|138411574 0.000000|0.000000 0.05858|0.05858 0.000000|0.000000 0.03702|0.03702 0.003000|0.003000 0.03518|0.03518 -0.235000|-0.235000 0.09016|0.09016 -0.476000|-0.476000 0.06842|0.06842 -0.302000|-0.302000 0.09304|0.09304 CAC|CCT NOVEL ZC3HAV1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000348915.1 1 23.778075 KEEP 0 0 0 79 2843 GG 1 1 0 - 9 60 349 0 0 22.432211 237 60 8886 407 ENST00000242351.5 0.036585 1 ZC3HAV1 56829 __UNKNOWN__ __UNKNOWN__ 7 138794149 138794149 __UNKNOWN__ 5'UTR SNP A A T rs1814170 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:138794149A>T ENST00000242351.5 - 0 245 ZC3HAV1_ENST00000471652.1_5'UTR NM_020119.3 NP_064504.2 Q7Z2W4 ZCCHV_HUMAN zinc finger CCCH-type, antiviral 1 NA NA defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886) metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822) cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1) 37 CGAAACTTACAAGTGTCCAGG 0.697 NA A||| 1263 0.252196 0.2557 0.1066 5008 , , NA 13715 0.4464 NA 0.1014 False NA ,,, NA NA NA 2504 0.3057 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant BX571742 CCDS5851.1, CCDS55171.1 7q34 2012-07-05 ENSG00000105939 ENSG00000105939 56829 Zinc fingers, CCCH-type domain containing, Poly (ADP-ribose) polymerases 23721 protein-coding gene gene with protein product zinc finger antiviral protein, CCCH-type zinc finger antiviral protein 607312 NA 12215647, 12851707 Standard NM_020119 NM_024625 NA Approved ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13 uc003vun.3 Q7Z2W4 OTTHUMG00000157471 ENST00000242351.5:c.-72T>A chr7.hg19:g.138794149A>T NA A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7 hg19 CCDS5851.1 0.02 12.956595 TACxAGT COVERED NOVEL ZC3HAV1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000348915.1 5 70.682656 KEEP 0 0 0 235 7145 AA 1 1 0 - 15 60 552 1 0 37.484168 244 60 8991 749 ENST00000242351.5 0.057915 1 TTC26 79989 __UNKNOWN__ __UNKNOWN__ 7 138819445 138819445 __UNKNOWN__ Silent SNP C C T rs35197265 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:138819445C>T ENST00000343187.4 + 2 123 c.48C>T c.(46-48)caC>caT p.H16H TTC26_ENST00000464848.1_Silent_p.H16H|TTC26_ENST00000495038.1_Silent_p.H16H|TTC26_ENST00000474035.2_Silent_p.H16H|TTC26_ENST00000430935.1_Silent_p.H16H|TTC26_ENST00000478836.2_Silent_p.H16H|TTC26_ENST00000481482.1_3'UTR NM_001144923.1 NP_001138395.1 A0AVF1 TTC26_HUMAN tetratricopeptide repeat domain 26 16 NA cilium assembly (GO:0042384) centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle B (GO:0030992)|primary cilium (GO:0072372) breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 24 GCGTACAGCACACTGACAAAA 0.408 NA C||| 219 0.04373 0.0915 0.0231 5008 , , NA 18100 0.0665 NA 0.003 False NA ,,, NA NA NA 2504 0.0123 NA NA NA NA 0 C ,, 368,4038 188.1+/-214.6 12,344,1847 70 66 68 48,48,48 -3.1 0 7 dbSNP_126 68 13,8587 9.1+/-34.3 0,13,4287 no coding-synonymous,coding-synonymous,coding-synonymous TTC26 NM_001144920.1,NM_001144923.1,NM_024926.2 ,, 12,357,6134 TT,TC,CC 0.1512,8.3522,2.9294 ,, 16/488,16/524,16/555 138819445 381,12625 2203 4300 6503 SO:0001819 synonymous_variant AK022633 CCDS5852.1, CCDS55172.1, CCDS55173.1, CCDS75665.1 7q34 2013-01-11 ENSG00000105948 ENSG00000105948 79989 Intraflagellar transport homologs, Tetratricopeptide (TTC) repeat domain containing 21882 protein-coding gene gene with protein product NA Standard NM_024926 NM_001144920 NA Approved FLJ12571, dyf-13, DYF13 uc003vus.2 A0AVF1 OTTHUMG00000157472 ENST00000343187.4:c.48C>T chr7.hg19:g.138819445C>T NA A4D1S3|B7Z5M0|C9J2N7|F8W724|Q9H9S8|Q9NTC0 hg19 CCDS55173.1 0.02 12.310714 GCAxACT COVERED NOVEL TTC26-002 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000348920.1 8 46.652216 KEEP 0 0 0 155 5586 CC 1 1 0 + 12 60 430 0 0 26.131625 332 60 12708 681 ENST00000343187.4 0.034884 1 TTC26 79989 __UNKNOWN__ __UNKNOWN__ 7 138822735 138822735 __UNKNOWN__ Intron SNP A A G rs76685969 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:138822735A>G ENST00000343187.4 + 3 216 TTC26_ENST00000464848.1_Intron|TTC26_ENST00000495038.1_Intron|TTC26_ENST00000474035.2_Intron|TTC26_ENST00000430935.1_Intron|TTC26_ENST00000478836.2_Intron|TTC26_ENST00000481482.1_Intron NM_001144923.1 NP_001138395.1 A0AVF1 TTC26_HUMAN tetratricopeptide repeat domain 26 NA NA cilium assembly (GO:0042384) centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle B (GO:0030992)|primary cilium (GO:0072372) breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 24 ttaaaatgttattaaacttta 0.303 NA A||| 158 0.0315495 0.0484 0.0159 5008 , , NA 15233 0.0665 NA 0.004 False NA ,,, NA NA NA 2504 0.0123 NA NA NA NA 0 A ,, 180,4220 1,178,2021 30 29 29 ,, 2.7 0 7 dbSNP_132 29 10,8586 0,10,4288 no intron,intron,intron TTC26 NM_001144920.1,NM_001144923.1,NM_024926.2 ,, 1,188,6309 GG,GA,AA 0.1163,4.0909,1.462 ,, ,, 138822735 190,12806 2200 4298 6498 SO:0001627 intron_variant AK022633 CCDS5852.1, CCDS55172.1, CCDS55173.1, CCDS75665.1 7q34 2013-01-11 ENSG00000105948 ENSG00000105948 79989 Intraflagellar transport homologs, Tetratricopeptide (TTC) repeat domain containing 21882 protein-coding gene gene with protein product NA Standard NM_024926 NM_001144920 NA Approved FLJ12571, dyf-13, DYF13 uc003vus.2 A0AVF1 OTTHUMG00000157472 ENST00000343187.4:c.142-1901A>G chr7.hg19:g.138822735A>G NA A4D1S3|B7Z5M0|C9J2N7|F8W724|Q9H9S8|Q9NTC0 hg19 CCDS55173.1 0.02 4.755369 GTTxTTA COVERED NOVEL TTC26-002 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000348920.1 1 9.326019 KEEP 0 0 0 31 920 AA 0.999997 0.999997 0 + 11 60 416 0 0 30.151434 128 60 4691 188 ENST00000343187.4 0.079137 1 TTC26 79989 __UNKNOWN__ __UNKNOWN__ 7 138822762 138822762 __UNKNOWN__ Intron SNP A A G rs7809077 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:138822762A>G ENST00000343187.4 + 3 216 TTC26_ENST00000464848.1_Intron|TTC26_ENST00000495038.1_Intron|TTC26_ENST00000474035.2_Intron|TTC26_ENST00000430935.1_Intron|TTC26_ENST00000478836.2_Intron|TTC26_ENST00000481482.1_Intron NM_001144923.1 NP_001138395.1 A0AVF1 TTC26_HUMAN tetratricopeptide repeat domain 26 NA NA cilium assembly (GO:0042384) centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle B (GO:0030992)|primary cilium (GO:0072372) breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 24 aataataCATATTCATGGTAA 0.284 NA G||| 1935 0.386382 0.6899 0.3444 5008 , , NA 15822 0.376 NA 0.0815 False NA ,,, NA NA NA 2504 0.3303 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK022633 CCDS5852.1, CCDS55172.1, CCDS55173.1, CCDS75665.1 7q34 2013-01-11 ENSG00000105948 ENSG00000105948 79989 Intraflagellar transport homologs, Tetratricopeptide (TTC) repeat domain containing 21882 protein-coding gene gene with protein product NA Standard NM_024926 NM_001144920 NA Approved FLJ12571, dyf-13, DYF13 uc003vus.2 A0AVF1 OTTHUMG00000157472 ENST00000343187.4:c.142-1874A>G chr7.hg19:g.138822762A>G NA A4D1S3|B7Z5M0|C9J2N7|F8W724|Q9H9S8|Q9NTC0 hg19 CCDS55173.1 0.02 2.050659 CATxTTC COVERED NOVEL TTC26-002 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000348920.1 1 4.210945 KEEP 0 0 0 14 409 AA 0.995343 0.994904 0 + 11 60 419 0 0 32.988227 73 60 2645 101 ENST00000343187.4 0.130952 0.999559 TTC26 79989 __UNKNOWN__ __UNKNOWN__ 7 138831707 138831707 __UNKNOWN__ Intron SNP C C T rs10248924 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:138831707C>T ENST00000343187.4 + 5 381 TTC26_ENST00000464848.1_Intron|TTC26_ENST00000495038.1_Intron|TTC26_ENST00000474035.2_Intron|TTC26_ENST00000430935.1_Intron|TTC26_ENST00000478836.2_Intron|TTC26_ENST00000481482.1_Intron NM_001144923.1 NP_001138395.1 A0AVF1 TTC26_HUMAN tetratricopeptide repeat domain 26 NA NA cilium assembly (GO:0042384) centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle B (GO:0030992)|primary cilium (GO:0072372) breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 24 CCTCCAGAGGCTATTTCCATT 0.378 NA C||| 1923 0.383986 0.6876 0.3401 5008 , , NA 17228 0.376 NA 0.0755 False NA ,,, NA NA NA 2504 0.3303 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK022633 CCDS5852.1, CCDS55172.1, CCDS55173.1, CCDS75665.1 7q34 2013-01-11 ENSG00000105948 ENSG00000105948 79989 Intraflagellar transport homologs, Tetratricopeptide (TTC) repeat domain containing 21882 protein-coding gene gene with protein product NA Standard NM_024926 NM_001144920 NA Approved FLJ12571, dyf-13, DYF13 uc003vus.2 A0AVF1 OTTHUMG00000157472 ENST00000343187.4:c.307-184C>T chr7.hg19:g.138831707C>T NA A4D1S3|B7Z5M0|C9J2N7|F8W724|Q9H9S8|Q9NTC0 hg19 CCDS55173.1 0.02 14.396555 AGGxTAT COVERED NOVEL TTC26-002 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000348920.1 2 21.069602 KEEP 0 0 0 70 2576 CC 1 1 0 + 13 60 456 0 0 27.602106 343 60 13172 558 ENST00000343187.4 0.036517 1 TTC26 79989 __UNKNOWN__ __UNKNOWN__ 7 138845932 138845932 __UNKNOWN__ Intron SNP T T A rs80259064 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:138845932T>A ENST00000343187.4 + 7 774 TTC26_ENST00000464848.1_Intron|TTC26_ENST00000495038.1_Intron|TTC26_ENST00000474035.2_3'UTR|TTC26_ENST00000430935.1_Intron|TTC26_ENST00000478836.2_Intron|TTC26_ENST00000481482.1_Intron NM_001144923.1 NP_001138395.1 A0AVF1 TTC26_HUMAN tetratricopeptide repeat domain 26 NA NA cilium assembly (GO:0042384) centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle B (GO:0030992)|primary cilium (GO:0072372) breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 24 TACTAATCTGTTTCCTTAAGG 0.378 NA T||| 155 0.0309505 0.0514 0.0101 5008 , , NA 15734 0.0645 NA 0.003 False NA ,,, NA NA NA 2504 0.0123 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK022633 CCDS5852.1, CCDS55172.1, CCDS55173.1, CCDS75665.1 7q34 2013-01-11 ENSG00000105948 ENSG00000105948 79989 Intraflagellar transport homologs, Tetratricopeptide (TTC) repeat domain containing 21882 protein-coding gene gene with protein product NA Standard NM_024926 NM_001144920 NA Approved FLJ12571, dyf-13, DYF13 uc003vus.2 A0AVF1 OTTHUMG00000157472 ENST00000343187.4:c.699+164T>A chr7.hg19:g.138845932T>A NA A4D1S3|B7Z5M0|C9J2N7|F8W724|Q9H9S8|Q9NTC0 hg19 CCDS55173.1 0.02 9.926804 CTGxTTC COVERED NOVEL TTC26-002 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000348920.1 2 11.435121 KEEP 0 0 0 38 1229 TT 1 1 0 + 12 60 415 0 0 25.405982 286 60 10064 384 ENST00000343187.4 0.040268 1 TTC26 79989 __UNKNOWN__ __UNKNOWN__ 7 138857770 138857770 __UNKNOWN__ Intron SNP G G T rs55825532 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:138857770G>T ENST00000343187.4 + 11 1051 TTC26_ENST00000464848.1_Intron|TTC26_ENST00000495038.1_Intron|TTC26_ENST00000430935.1_Intron|TTC26_ENST00000478836.2_Intron NM_001144923.1 NP_001138395.1 A0AVF1 TTC26_HUMAN tetratricopeptide repeat domain 26 NA NA cilium assembly (GO:0042384) centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle B (GO:0030992)|primary cilium (GO:0072372) breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 24 GTGTGGCTCAGGGACCACCTC 0.552 NA T||| 2001 0.399561 0.7496 0.3458 5008 , , NA 17348 0.37 NA 0.0755 False NA ,,, NA NA NA 2504 0.3282 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK022633 CCDS5852.1, CCDS55172.1, CCDS55173.1, CCDS75665.1 7q34 2013-01-11 ENSG00000105948 ENSG00000105948 79989 Intraflagellar transport homologs, Tetratricopeptide (TTC) repeat domain containing 21882 protein-coding gene gene with protein product NA Standard NM_024926 NM_001144920 NA Approved FLJ12571, dyf-13, DYF13 uc003vus.2 A0AVF1 OTTHUMG00000157472 ENST00000343187.4:c.976+3672G>T chr7.hg19:g.138857770G>T NA A4D1S3|B7Z5M0|C9J2N7|F8W724|Q9H9S8|Q9NTC0 hg19 CCDS55173.1 0.02 4.504903 TCAxGGA COVERED NOVEL TTC26-002 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000348920.1 0 8.427345 KEEP 0 0 0 28 987 GG 0.999997 0.999996 0 + 8 60 300 0 0 20.99576 114 60 4136 174 ENST00000343187.4 0.065574 0.999999 TTC26 79989 __UNKNOWN__ __UNKNOWN__ 7 138874191 138874191 __UNKNOWN__ 3'UTR SNP G G A rs74896475 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:138874191G>A ENST00000343187.4 + 0 1660 TTC26_ENST00000464848.1_3'UTR|TTC26_ENST00000495038.1_3'UTR|TTC26_ENST00000430935.1_3'UTR|TTC26_ENST00000478836.2_3'UTR NM_001144923.1 NP_001138395.1 A0AVF1 TTC26_HUMAN tetratricopeptide repeat domain 26 NA NA cilium assembly (GO:0042384) centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle B (GO:0030992)|primary cilium (GO:0072372) breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 24 TAGCGCCAGCGTCCTAGGAAC 0.403 NA g||| 84 0.0167732 0.0 0.0086 5008 , , NA 19450 0.0625 NA 0.003 False NA ,,, NA NA NA 2504 0.0123 NA NA NA NA 0 A ,, 2,4404 4.2+/-10.8 0,2,2201 79 74 76 ,, -2.2 0 7 dbSNP_131 76 9,8591 6.4+/-24.3 0,9,4291 no utr-3,utr-3,utr-3 TTC26 NM_001144920.1,NM_001144923.1,NM_024926.2 ,, 0,11,6492 AA,AG,GG 0.1047,0.0454,0.0846 ,, ,, 138874191 11,12995 2203 4300 6503 SO:0001624 3_prime_UTR_variant AK022633 CCDS5852.1, CCDS55172.1, CCDS55173.1, CCDS75665.1 7q34 2013-01-11 ENSG00000105948 ENSG00000105948 79989 Intraflagellar transport homologs, Tetratricopeptide (TTC) repeat domain containing 21882 protein-coding gene gene with protein product NA Standard NM_024926 NM_001144920 NA Approved FLJ12571, dyf-13, DYF13 uc003vus.2 A0AVF1 OTTHUMG00000157472 ENST00000343187.4:c.*13G>A chr7.hg19:g.138874191G>A NA A4D1S3|B7Z5M0|C9J2N7|F8W724|Q9H9S8|Q9NTC0 hg19 CCDS55173.1 0.02 24.494732 AGCxTCC COVERED NOVEL TTC26-002 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000348920.1 2 22.573164 KEEP 0 0 0 75 2624 GG 1 1 0 + 29 60 1078 1 0 71.948675 538 60 19078 796 ENST00000343187.4 0.051146 1 KLRG2 346689 __UNKNOWN__ __UNKNOWN__ 7 139137983 139137983 __UNKNOWN__ 3'UTR SNP C C T rs77023089 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:139137983C>T ENST00000340940.4 - 0 1649 NM_198508.2 NP_940910.1 A4D1S0 KLRG2_HUMAN killer cell lectin-like receptor subfamily G, member 2 NA NA integral component of membrane (GO:0016021) carbohydrate binding (GO:0030246) central_nervous_system(1)|large_intestine(2)|lung(3) 6 Melanoma(164;0.233) GATTGGAATCCGCTGTGGTTG 0.448 NA C||| 139 0.0277556 0.0091 0.0043 5008 , , NA 21171 0.1101 NA 0.005 False NA ,,, NA NA NA 2504 0.0082 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK126174 CCDS5854.1 7q34 2011-08-30 ENSG00000188883 ENSG00000188883 346689 Killer cell lectin-like receptors, C-type lectin domain containing 24778 protein-coding gene gene with protein product C-type lectin domain family 15, member B NA Standard NM_198508 XM_005250311 NA Approved FLJ44186, CLEC15B uc003vvb.3 A4D1S0 OTTHUMG00000157705 ENST00000340940.4:c.*350G>A chr7.hg19:g.139137983C>T NA Q2NL79|Q6ZTV6 hg19 CCDS5854.1 0.02 9.474375 ATCxGCT COVERED NOVEL KLRG2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000349433.1 1 5.417333 KEEP 0 0 0 18 615 CC 0.999859 0.999859 0 - 7 60 270 0 0 16.96026 207 60 7081 258 ENST00000340940.4 0.03271 1 HIPK2 28996 __UNKNOWN__ __UNKNOWN__ 7 139255706 139255706 __UNKNOWN__ 3'UTR SNP A A C rs6956323 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:139255706A>C ENST00000406875.3 - 0 5658 NM_022740.4 NP_073577.3 Q9H2X6 HIPK2_HUMAN homeodomain interacting protein kinase 2 NA NA adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882) cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634) ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790) breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Melanoma(164;0.205) CCATCCCCAGAAGTGTCCAAA 0.438 NA C||| 509 0.101637 0.298 0.0375 5008 , , NA 19224 0.0734 NA 0.005 False NA ,,, NA NA NA 2504 0.0102 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF208291 CCDS75666.1, CCDS75667.1 7q32-q34 2004-01-29 2001-11-29 ENSG00000064393 ENSG00000064393 28996 14402 protein-coding gene gene with protein product 606868 homeodomain-interacting protein kinase 2 NA 11120354 Standard NM_022740 NM_001113239 NA Approved uc003vvf.4 Q9H2X6 OTTHUMG00000157704 ENST00000406875.3:c.*1967T>G chr7.hg19:g.139255706A>C NA Q75MR7|Q8WWI4|Q9H2Y1 hg19 0.02 4.476566 CAGxAGT COVERED NOVEL HIPK2-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000349430.3 1 9.930374 KEEP 0 0 0 33 1061 AA 0.999998 0.999998 0 - 6 60 214 0 0 13.389222 142 60 5086 215 ENST00000406875.3 0.040541 1 JHDM1D 0 __UNKNOWN__ __UNKNOWN__ 7 139786498 139786498 __UNKNOWN__ 3'UTR SNP C C T rs80098017 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:139786498C>T ENST00000397560.2 - 0 7319 NM_030647.1 NP_085150.1 Q6ZMT4 KDM7A_HUMAN NA NA histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|midbrain development (GO:0030901)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351) nucleolus (GO:0005730)|nucleus (GO:0005634) histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270) central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1) 22 Melanoma(164;0.0142) TTTTAGGAAGCAAAGTATCAG 0.473 NA C||| 243 0.0485224 0.0 0.0346 5008 , , NA 17138 0.1488 NA 0.0139 False NA ,,, NA NA NA 2504 0.0562 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant NA NA NA NA ENST00000397560.2:c.*4396G>A chr7.hg19:g.139786498C>T NA A4D1S9|C9JJH9|C9JQU2|Q6MZL8|Q9C0E5 hg19 CCDS43658.1 0.02 9.628575 AAGxAAA COVERED NOVEL JHDM1D-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000348460.1 1 12.942345 KEEP 0 0 0 43 1552 CC 1 1 0 - 11 60 387 0 0 23.514095 287 60 10899 410 ENST00000397560.2 0.036913 1 SLC37A3 84255 __UNKNOWN__ __UNKNOWN__ 7 140044979 140044979 __UNKNOWN__ Intron SNP C C T rs6974016 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:140044979C>T ENST00000326232.9 - 12 1378 SLC37A3_ENST00000447932.2_Intron|SLC37A3_ENST00000340308.3_Intron NM_207113.1 NP_996996.1 Q8NCC5 SPX3_HUMAN solute carrier family 37, member 3 NA NA carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021) transporter activity (GO:0005215) endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3) 24 Melanoma(164;0.0142) ATTTACAGAGCAACAGAAGCA 0.418 NA T||| 3350 0.66893 0.9614 0.6657 5008 , , NA 21229 0.4871 NA 0.6938 False NA ,,, NA NA NA 2504 0.4376 NA NA NA Esophageal Squamous(133;211 1716 4665 11387 37873) NA 0 T , 4000,406 199.1+/-222.7 1811,378,14 98 85 90 , -3.1 0 7 dbSNP_116 90 5909,2691 431.8+/-356.9 2034,1841,425 no intron,intron SLC37A3 NM_032295.2,NM_207113.1 , 3845,2219,439 TT,TC,CC 31.2907,9.2147,23.8121 , , 140044979 9909,3097 2203 4300 6503 SO:0001627 intron_variant AK074823 CCDS5858.1, CCDS5859.1, CCDS75669.1 7q34 2013-07-17 2013-07-17 ENSG00000157800 ENSG00000157800 84255 Solute carriers 20651 protein-coding gene gene with protein product NA Standard NM_032295 NM_001287498 NA Approved DKFZp761N0624 uc003vvo.3 Q8NCC5 OTTHUMG00000157343 ENST00000326232.9:c.1174+36G>A chr7.hg19:g.140044979C>T NA Q6PIU7|Q86SS4|Q9BQG7 hg19 CCDS5859.1 0.02 12.471848 GAGxAAC COVERED NOVEL SLC37A3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000348492.1 2 10.668965 KEEP 0 1 27 45 1621 CC 1 1 0 - 17 60 612 1 0 40.077659 320 60 12151 481 ENST00000326232.9 0.050445 1 MKRN1 23608 __UNKNOWN__ __UNKNOWN__ 7 140155121 140155121 __UNKNOWN__ Intron SNP G G A rs138095467 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:140155121G>A ENST00000255977.2 - 7 1322 MKRN1_ENST00000474576.1_Intron|MKRN1_ENST00000437223.2_Intron NM_013446.3 NP_038474.2 Q9UHC7 MKRN1_HUMAN makorin ring finger protein 1 NA NA protein polyubiquitination (GO:0000209) chromatin binding (GO:0003682)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 16 Melanoma(164;0.00956) AACAGGTAGGGATAGAACCAG 0.433 NA g||| 44 0.00878594 0.0 0.0 5008 , , NA 21289 0.0298 NA 0.0 False NA ,,, NA NA NA 2504 0.0143 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF192784 CCDS5860.1, CCDS47725.1 7q34 2013-01-09 2008-08-13 ENSG00000133606 ENSG00000133606 23608 RING-type (C3HC4) zinc fingers 7112 protein-coding gene gene with protein product 607754 NA 10843807 Standard NM_013446 NM_013446 NA Approved RNF61 uc003vvt.2 Q9UHC7 OTTHUMG00000157412 ENST00000255977.2:c.1098-88C>T chr7.hg19:g.140155121G>A NA A4D1T7|B3KXB4|Q256Y7|Q59G11|Q6GSF1|Q9H0G0|Q9UEZ7|Q9UHW2 hg19 CCDS5860.1 0.02 11.377082 AGGxATA COVERED NOVEL MKRN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000348752.1 0 15.951043 KEEP 0 0 0 53 1818 GG 1 1 0 - 15 60 528 0 0 34.498891 277 60 10464 416 ENST00000255977.2 0.05137 1 MKRN1 23608 __UNKNOWN__ __UNKNOWN__ 7 140155778 140155778 __UNKNOWN__ Intron SNP G G C rs2363826 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:140155778G>C ENST00000255977.2 - 6 1211 MKRN1_ENST00000474576.1_Intron|MKRN1_ENST00000437223.2_Intron NM_013446.3 NP_038474.2 Q9UHC7 MKRN1_HUMAN makorin ring finger protein 1 NA NA protein polyubiquitination (GO:0000209) chromatin binding (GO:0003682)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 16 Melanoma(164;0.00956) CTGGTGTGTCGCCTCCAGACT 0.498 NA g||| 1502 0.29992 0.733 0.1311 5008 , , NA 16974 0.1796 NA 0.1123 False NA ,,, NA NA NA 2504 0.1513 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF192784 CCDS5860.1, CCDS47725.1 7q34 2013-01-09 2008-08-13 ENSG00000133606 ENSG00000133606 23608 RING-type (C3HC4) zinc fingers 7112 protein-coding gene gene with protein product 607754 NA 10843807 Standard NM_013446 NM_013446 NA Approved RNF61 uc003vvt.2 Q9UHC7 OTTHUMG00000157412 ENST00000255977.2:c.987-78C>G chr7.hg19:g.140155778G>C NA A4D1T7|B3KXB4|Q256Y7|Q59G11|Q6GSF1|Q9H0G0|Q9UEZ7|Q9UHW2 hg19 CCDS5860.1 0.02 7.140057 GTCxCCT COVERED NOVEL MKRN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000348752.1 1 19.838078 KEEP 0 0 0 66 2299 GG 1 1 0 - 11 60 408 0 0 27.940084 174 60 6172 331 ENST00000255977.2 0.059459 1 MKRN1 23608 __UNKNOWN__ __UNKNOWN__ 7 140159721 140159721 __UNKNOWN__ Silent SNP T T C rs10243155 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:140159721T>C ENST00000255977.2 - 3 554 c.330A>G c.(328-330)aaA>aaG p.K110K MKRN1_ENST00000480552.1_Intron|MKRN1_ENST00000443720.2_Silent_p.K110K|MKRN1_ENST00000474576.1_Silent_p.K46K|MKRN1_ENST00000437223.2_Intron NM_013446.3 NP_038474.2 Q9UHC7 MKRN1_HUMAN makorin ring finger protein 1 110 NA protein polyubiquitination (GO:0000209) chromatin binding (GO:0003682)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 16 Melanoma(164;0.00956) GTTTCAATGGTTTGCTATGTT 0.443 NA N||| 1505 0.300519 0.7345 0.1326 5008 , , NA 18806 0.1796 NA 0.1123 False NA ,,, NA NA NA 2504 0.1513 NA NA NA NA 0 C , 2708,1698 879,950,374 110 115 114 330,330 0.1 1 7 dbSNP_119 114 1011,7589 60,891,3349 no coding-synonymous,coding-synonymous MKRN1 NM_001145125.1,NM_013446.3 , 939,1841,3723 CC,CT,TT 11.7558,38.5384,28.5945 , 110/330,110/483 140159721 3719,9287 2203 4300 6503 SO:0001819 synonymous_variant AF192784 CCDS5860.1, CCDS47725.1 7q34 2013-01-09 2008-08-13 ENSG00000133606 ENSG00000133606 23608 RING-type (C3HC4) zinc fingers 7112 protein-coding gene gene with protein product 607754 NA 10843807 Standard NM_013446 NM_013446 NA Approved RNF61 uc003vvt.2 Q9UHC7 OTTHUMG00000157412 ENST00000255977.2:c.330A>G chr7.hg19:g.140159721T>C NA A4D1T7|B3KXB4|Q256Y7|Q59G11|Q6GSF1|Q9H0G0|Q9UEZ7|Q9UHW2 hg19 CCDS5860.1 0.02 6.966484 TGGxTTG COVERED NOVEL MKRN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000348752.1 1 14.745693 KEEP 0 0 0 49 1570 TT 1 1 0 - 9 60 348 0 0 23.535998 173 60 6169 292 ENST00000255977.2 0.049451 1 MKRN1 23608 __UNKNOWN__ __UNKNOWN__ 7 140173102 140173102 __UNKNOWN__ Intron SNP T T G rs17161569 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:140173102T>G ENST00000255977.2 - 2 410 MKRN1_ENST00000480552.1_Intron|MKRN1_ENST00000443720.2_Intron|MKRN1_ENST00000474576.1_Intron|MKRN1_ENST00000481705.1_Intron|MKRN1_ENST00000437223.2_Intron NM_013446.3 NP_038474.2 Q9UHC7 MKRN1_HUMAN makorin ring finger protein 1 NA NA protein polyubiquitination (GO:0000209) chromatin binding (GO:0003682)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 16 Melanoma(164;0.00956) TGAAGTTCCTTCCACTGTGCA 0.413 NA t||| 805 0.160743 0.2579 0.1023 5008 , , NA 15236 0.1468 NA 0.1113 False NA ,,, NA NA NA 2504 0.136 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF192784 CCDS5860.1, CCDS47725.1 7q34 2013-01-09 2008-08-13 ENSG00000133606 ENSG00000133606 23608 RING-type (C3HC4) zinc fingers 7112 protein-coding gene gene with protein product 607754 NA 10843807 Standard NM_013446 NM_013446 NA Approved RNF61 uc003vvt.2 Q9UHC7 OTTHUMG00000157412 ENST00000255977.2:c.186-1291A>C chr7.hg19:g.140173102T>G NA A4D1T7|B3KXB4|Q256Y7|Q59G11|Q6GSF1|Q9H0G0|Q9UEZ7|Q9UHW2 hg19 CCDS5860.1 0.02 20.737426 CCTxCCA COVERED NOVEL MKRN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000348752.1 1 34.60181 KEEP 0 0 0 115 3640 TT 1 1 0 - 14 60 539 0 0 33.345635 448 70 16058 784 ENST00000255977.2 0.030303 1 MKRN1 23608 __UNKNOWN__ __UNKNOWN__ 7 140173220 140173220 __UNKNOWN__ Intron SNP G G T rs147874404 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:140173220G>T ENST00000255977.2 - 2 410 MKRN1_ENST00000480552.1_Intron|MKRN1_ENST00000443720.2_Intron|MKRN1_ENST00000474576.1_Intron|MKRN1_ENST00000481705.1_Intron|MKRN1_ENST00000437223.2_Intron NM_013446.3 NP_038474.2 Q9UHC7 MKRN1_HUMAN makorin ring finger protein 1 NA NA protein polyubiquitination (GO:0000209) chromatin binding (GO:0003682)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 16 Melanoma(164;0.00956) TAGAGAACAAGAAACTGCCAA 0.418 NA g||| 45 0.00898562 0.0 0.0 5008 , , NA 15546 0.0308 NA 0.0 False NA ,,, NA NA NA 2504 0.0143 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF192784 CCDS5860.1, CCDS47725.1 7q34 2013-01-09 2008-08-13 ENSG00000133606 ENSG00000133606 23608 RING-type (C3HC4) zinc fingers 7112 protein-coding gene gene with protein product 607754 NA 10843807 Standard NM_013446 NM_013446 NA Approved RNF61 uc003vvt.2 Q9UHC7 OTTHUMG00000157412 ENST00000255977.2:c.186-1409C>A chr7.hg19:g.140173220G>T NA A4D1T7|B3KXB4|Q256Y7|Q59G11|Q6GSF1|Q9H0G0|Q9UEZ7|Q9UHW2 hg19 CCDS5860.1 0.02 9.115399 CAAxAAA COVERED NOVEL MKRN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000348752.1 1 10.834843 KEEP 0 0 0 36 1246 GG 0.999999 0.999999 0 - 12 60 427 0 0 27.949536 220 60 8298 311 ENST00000255977.2 0.051724 1 DENND2A 27147 __UNKNOWN__ __UNKNOWN__ 7 140218464 140218464 __UNKNOWN__ 3'UTR SNP C C A rs6852 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:140218464C>A ENST00000275884.6 - 0 3490 DENND2A_ENST00000537639.1_3'UTR|DENND2A_ENST00000496613.1_3'UTR Q9ULE3 DEN2A_HUMAN DENN/MADD domain containing 2A NA NA positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147) actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737) Rab guanyl-nucleotide exchange factor activity (GO:0017112) breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Melanoma(164;0.00956) GTTTTTAAAGCATAGGGCTGC 0.488 NA C||| 2436 0.486422 0.1831 0.4582 5008 , , NA 15790 0.7728 NA 0.5288 False NA ,,, NA NA NA 2504 0.5777 NA NA NA NA 0 C 854,2824 106,642,1091 58 55 56 2.4 0 7 dbSNP_52 56 4264,3902 1129,2006,948 no utr-3 DENND2A NM_015689.3 1235,2648,2039 AA,AC,CC 47.7835,23.2191,43.2118 140218464 5118,6726 1839 4083 5922 SO:0001624 3_prime_UTR_variant AB033103 CCDS43659.1 7q34 2012-10-03 2005-08-17 2005-08-17 ENSG00000146966 ENSG00000146966 27147 DENN/MADD domain containing 22212 protein-coding gene gene with protein product KIAA1277 KIAA1277 NA Standard NM_015689 NM_015689 NA Approved FAM31D uc010lnj.3 Q9ULE3 OTTHUMG00000157411 ENST00000275884.6:c.*43G>T chr7.hg19:g.140218464C>A NA C9JUI3|Q1RMD5|Q86XY0 hg19 CCDS43659.1 0.02 14.989314 AAGxATA COVERED NOVEL DENND2A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000348742.1 0 40.02924 KEEP 0 0 0 133 4716 CC 1 1 0 - 26 60 918 0 0 63.542338 342 60 12882 632 ENST00000275884.6 0.070652 1 TMEM178B 100507421 __UNKNOWN__ __UNKNOWN__ 7 141176988 141176988 __UNKNOWN__ 3'UTR SNP T T C rs7799309 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:141176988T>C ENST00000565468.1 + 0 7366 NM_001195278.1 NP_001182207.1 H3BS89 T178B_HUMAN transmembrane protein 178B NA NA integral component of membrane (GO:0016021) NA AGAGCTTTCATGAACTCATTC 0.443 NA C||| 784 0.15655 0.5408 0.0533 5008 , , NA 20137 0.006 NA 0.0139 False NA ,,, NA NA NA 2504 0.0123 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS59086.1 7q34 2012-06-29 ENSG00000261115 ENSG00000261115 100507421 44112 protein-coding gene gene with protein product NA Standard NM_001195278 NA Approved DKFZp547G036 uc003vwg.2 H3BS89 OTTHUMG00000172737 ENST00000565468.1:c.*6402T>C chr7.hg19:g.141176988T>C NA hg19 CCDS59086.1 0.02 10.933205 TCAxGAA COVERED NOVEL TMEM178B-001 PUTATIVE not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000420337.4 2 21.363357 KEEP 0 0 0 71 2244 TT 1 1 0 + 11 60 398 0 0 24.628508 286 60 10493 456 ENST00000565468.1 0.037037 1 AGK 55750 __UNKNOWN__ __UNKNOWN__ 7 141354323 141354323 __UNKNOWN__ 3'UTR SNP T T G rs377281201 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:141354323T>G ENST00000355413.4 + 0 3128 RP5-894A10.2_ENST00000467537.1_RNA NM_018238.3 NP_060708.1 Q53H12 AGK_HUMAN acylglycerol kinase NA NA ceramide biosynthetic process (GO:0046513)|glycerolipid metabolic process (GO:0046486)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205) intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739) acylglycerol kinase activity (GO:0047620)|ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951) breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3) 17 Melanoma(164;0.0171) agattctcctttagtctgttg 0.363 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC022777 CCDS5865.1 7q34 2010-05-04 2007-01-11 2007-01-11 ENSG00000006530 ENSG00000006530 55750 2.7.1.94 21869 protein-coding gene gene with protein product 610345 multiple substrate lipid kinase MULK NA 15252046, 15939762, 17135245 Standard NM_018238 NM_018238 NA Approved FLJ10842 uc003vwi.2 Q53H12 OTTHUMG00000157499 ENST00000355413.4:c.*1599T>G chr7.hg19:g.141354323T>G NA Q75KN1|Q96GC3|Q9NP48 hg19 CCDS5865.1 0.02 8.975481 CCTxTAG COVERED NOVEL AGK-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000348969.1 4 12.637646 KEEP 0 0 0 42 1325 TT 1 1 0 + 8 60 310 0 0 19.474257 240 60 8552 336 ENST00000355413.4 0.032258 1 SSBP1 6742 __UNKNOWN__ __UNKNOWN__ 7 141439003 141439003 __UNKNOWN__ Intron SNP C C T rs75358342 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:141439003C>T ENST00000481508.1 + 2 459 SSBP1_ENST00000498107.1_Intron|SSBP1_ENST00000265304.6_Intron|SSBP1_ENST00000465582.1_Intron|SSBP1_ENST00000484178.1_Intron|SSBP1_ENST00000469123.1_Intron NM_001256510.1 NP_001243439.1 Q04837 SSBP_HUMAN single-stranded DNA binding protein 1, mitochondrial NA NA DNA replication (GO:0006260)|mitochondrion morphogenesis (GO:0070584)|positive regulation of helicase activity (GO:0051096) extracellular vesicular exosome (GO:0070062)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634) chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697) large_intestine(3)|lung(1)|ovary(1)|pancreas(1)|skin(1) 7 Melanoma(164;0.0171) AGTCACTTGTCTGTATTAATA 0.373 NA C||| 514 0.102636 0.0113 0.1916 5008 , , NA 18512 0.0685 NA 0.2316 False NA ,,, NA NA NA 2504 0.0654 NA NA NA NA 0 C 211,4195 127.0+/-164.0 5,201,1997 110 111 111 0.1 0 7 dbSNP_132 111 1970,6630 345.5+/-325.8 227,1516,2557 no intron SSBP1 NM_003143.1 232,1717,4554 TT,TC,CC 22.907,4.7889,16.7692 141439003 2181,10825 2203 4300 6503 SO:0001627 intron_variant M94556 CCDS5866.1 7q34 2012-05-25 2012-05-25 ENSG00000106028 ENSG00000106028 6742 11317 protein-coding gene gene with protein product 600439 single-stranded DNA-binding protein, single-stranded DNA binding protein 1 NA 7789991 Standard NM_003143 NM_001256510 NA Approved SSBP, mtSSB uc031szi.1 Q04837 OTTHUMG00000157572 ENST00000481508.1:c.24+13C>T chr7.hg19:g.141439003C>T NA hg19 CCDS5866.1 0.02 9.765342 TGTxTGT COVERED NOVEL SSBP1-006 KNOWN alternative_5_UTR|basic|CCDS protein_coding NA protein_coding OTTHUMT00000349187.1 1 25.88355 KEEP 0 0 0 86 3063 CC 1 1 0 + 10 60 347 0 0 20.899468 261 60 9901 433 ENST00000481508.1 0.0369 1 MGAM 8972 __UNKNOWN__ __UNKNOWN__ 7 141705540 141705540 __UNKNOWN__ Intron SNP A A C rs1285965 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:141705540A>C ENST00000475668.2 + 2 181 MGAM_ENST00000549489.2_Intron O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) NA NA carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450) cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) TAATGCTTTCATGCTCATGTG 0.388 NA A||| 2274 0.454073 0.2504 0.4481 5008 , , NA 15826 0.6825 NA 0.495 False NA ,,, NA NA NA 2504 0.456 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF016833 CCDS47727.1 7q34 2012-10-03 ENSG00000257335 ENSG00000257335 8972 7043 protein-coding gene gene with protein product 154360 NA 9446624 Standard NM_004668 NA Approved MGA uc003vwy.3 O43451 OTTHUMG00000158395 ENST00000475668.2:c.127+83A>C chr7.hg19:g.141705540A>C NA Q0VAX6|Q75ME7|Q86UM5 hg19 0.02 6.950545 TTCxTGC COVERED NOVEL MGAM-007 PUTATIVE basic|appris_principal protein_coding NA protein_coding OTTHUMT00000351290.4 3 3.309986 KEEP 0 0 0 11 345 AA 0.993072 0.993072 0 + 7 60 263 0 0 17.139871 154 60 5597 189 ENST00000475668.2 0.043478 1 MGAM 8972 __UNKNOWN__ __UNKNOWN__ 7 141780686 141780686 __UNKNOWN__ Silent SNP C C G rs147255580 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:141780686C>G ENST00000475668.2 + 50 5997 c.5943C>G c.(5941-5943)gtC>gtG p.V1981V MGAM_ENST00000549489.2_Intron O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1085 NA carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450) cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) TCTATGATGTCCTCATTAAGA 0.468 NA c||| 82 0.0163738 0.0008 0.0072 5008 , , NA 17503 0.0665 NA 0.0 False NA ,,, NA NA NA 2504 0.0092 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001819 synonymous_variant AF016833 CCDS47727.1 7q34 2012-10-03 ENSG00000257335 ENSG00000257335 8972 7043 protein-coding gene gene with protein product 154360 NA 9446624 Standard NM_004668 NA Approved MGA uc003vwy.3 O43451 OTTHUMG00000158395 ENST00000475668.2:c.5943C>G chr7.hg19:g.141780686C>G NA Q0VAX6|Q75ME7|Q86UM5 hg19 0.02 8.76531 TGTxCTC COVERED NOVEL MGAM-007 PUTATIVE basic|appris_principal protein_coding NA protein_coding OTTHUMT00000351290.4 1 7.524251 KEEP 0 0 0 25 875 CC 0.999931 0.999931 0 + 10 49 359 0 0 23.365329 194 60 6966 269 ENST00000475668.2 0.04902 1 RP11-1220K2.2 0 __UNKNOWN__ __UNKNOWN__ 7 141844888 141844888 __UNKNOWN__ Intron SNP C C G rs12154456 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:141844888C>G ENST00000477922.3 + 14 1570 NA NA endometrium(1)|lung(5) 6 GCCGAAGTCTCTGCAGCAGTG 0.517 NA C||| 1303 0.260184 0.0197 0.2608 5008 , , NA 18819 0.5 NA 0.335 False NA ,,, NA NA NA 2504 0.2607 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000477922.3:c.1516+143C>G chr7.hg19:g.141844888C>G NA hg19 0.02 2.036447 TCTxTGC COVERED NOVEL RP11-1220K2.2-003 PUTATIVE not_best_in_genome_evidence|basic|appris_principal|exp_conf protein_coding NA protein_coding OTTHUMT00000351325.3 2 4.213794 KEEP 0 0 0 14 497 CC 0.995343 0.995283 0 + 4 60 144 0 0 9.072736 93 60 3556 118 ENST00000477922.3 0.041237 0.99994 RP11-1220K2.2 0 __UNKNOWN__ __UNKNOWN__ 7 141865888 141865888 __UNKNOWN__ Intron SNP C C T rs117616863 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:141865888C>T ENST00000477922.3 + 25 2706 NA NA endometrium(1)|lung(5) 6 GTGACTGTCTCTTTCCCCAGG 0.493 NA C||| 71 0.0141773 0.0 0.0 5008 , , NA 20183 0.0337 NA 0.007 False NA ,,, NA NA NA 2504 0.0307 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000477922.3:c.2653-10C>T chr7.hg19:g.141865888C>T NA hg19 0.02 1.716202 TCTxTTT COVERED NOVEL RP11-1220K2.2-003 PUTATIVE not_best_in_genome_evidence|basic|appris_principal|exp_conf protein_coding NA protein_coding OTTHUMT00000351325.3 1 4.513699 KEEP 0 0 0 15 499 CC 0.99649 0.996259 0 + 4 60 139 0 0 8.745637 84 60 3158 116 ENST00000477922.3 0.045455 0.999768 RP11-1220K2.2 0 __UNKNOWN__ __UNKNOWN__ 7 141867297 141867297 __UNKNOWN__ Intron SNP T T C rs117028313 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:141867297T>C ENST00000477922.3 + 26 3081 NA NA endometrium(1)|lung(5) 6 GTAAGGCCCATGTTGCAGATT 0.418 NA T||| 71 0.0141773 0.0 0.0 5008 , , NA 22888 0.0337 NA 0.007 False NA ,,, NA NA NA 2504 0.0307 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000477922.3:c.3027+11T>C chr7.hg19:g.141867297T>C NA hg19 0.02 4.446799 CCAxGTT COVERED NOVEL RP11-1220K2.2-003 PUTATIVE not_best_in_genome_evidence|basic|appris_principal|exp_conf protein_coding NA protein_coding OTTHUMT00000351325.3 0 4.814263 KEEP 0 0 0 16 501 TT 0.997832 0.997832 0 + 5 60 193 0 0 12.320335 135 60 5065 199 ENST00000477922.3 0.035714 1 RP11-1220K2.2 0 __UNKNOWN__ __UNKNOWN__ 7 141871251 141871251 __UNKNOWN__ Intron SNP A A T rs7779634 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:141871251A>T ENST00000477922.3 + 28 3405 NA NA endometrium(1)|lung(5) 6 GTAGGGACAAAGGAATAAGTT 0.378 NA T||| 2544 0.507987 0.5628 0.3545 5008 , , NA 13664 0.6994 NA 0.3012 False NA ,,, NA NA NA 2504 0.5583 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000477922.3:c.3351+11A>T chr7.hg19:g.141871251A>T NA hg19 0.02 9.542786 CAAxGGA COVERED NOVEL RP11-1220K2.2-003 PUTATIVE not_best_in_genome_evidence|basic|appris_principal|exp_conf protein_coding NA protein_coding OTTHUMT00000351325.3 2 11.133664 KEEP 0 0 0 37 1168 AA 1 1 0 + 12 60 459 0 0 31.756587 194 60 7291 307 ENST00000477922.3 0.058252 1 RP11-1220K2.2 0 __UNKNOWN__ __UNKNOWN__ 7 141873000 141873000 __UNKNOWN__ Intron SNP T T A rs9986803 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:141873000T>A ENST00000477922.3 + 31 3615 NA NA endometrium(1)|lung(5) 6 TAAGAAATCTTTCTGGATGCA 0.398 NA A||| 2909 0.580871 0.705 0.4942 5008 , , NA 17369 0.5903 NA 0.4254 False NA ,,, NA NA NA 2504 0.6247 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000477922.3:c.3562-29T>A chr7.hg19:g.141873000T>A NA hg19 0.02 4.149576 TCTxTCT COVERED NOVEL RP11-1220K2.2-003 PUTATIVE not_best_in_genome_evidence|basic|appris_principal|exp_conf protein_coding NA protein_coding OTTHUMT00000351325.3 2 4.211937 KEEP 0 0 0 14 417 TT 0.995343 0.995341 0 + 8 60 277 0 0 18.848931 109 60 3912 143 ENST00000477922.3 0.068376 0.999998 RP11-1220K2.2 0 __UNKNOWN__ __UNKNOWN__ 7 141875594 141875594 __UNKNOWN__ Intron SNP C C A rs6958066 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:141875594C>A ENST00000477922.3 + 32 3870 NA NA endometrium(1)|lung(5) 6 TGTATTGAGACAGATCAGATC 0.383 NA C||| 1182 0.236022 0.112 0.2651 5008 , , NA 16162 0.3562 NA 0.1899 False NA ,,, NA NA NA 2504 0.3067 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000477922.3:c.3816+14C>A chr7.hg19:g.141875594C>A NA hg19 0.02 2.408298 AGAxAGA COVERED NOVEL RP11-1220K2.2-003 PUTATIVE not_best_in_genome_evidence|basic|appris_principal|exp_conf protein_coding NA protein_coding OTTHUMT00000351325.3 2 3.009988 KEEP 0 0 0 10 368 CC 0.992708 0.987171 0 + 10 60 383 0 0 30.952652 55 60 2110 93 ENST00000477922.3 0.153846 0.994422 TRBV4-2 28616 __UNKNOWN__ __UNKNOWN__ 7 142045613 142045613 __UNKNOWN__ RNA SNP G G T rs2010177 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:142045613G>T ENST00000390392.3 + 0 252 T cell receptor beta variable 4-2 NA NA NA AACATCTGGGGCATAACGCTA 0.453 NA .||| 66 0.0131789 0.0393 0.0058 5008 , , NA 18503 0.0099 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 T 1083,2893 17,1049,922 185 212 204 -0.9 0 7 dbSNP_92 204 3130,5232 9,3112,1060 no intergenic 26,4161,1982 TT,TG,GG 37.4312,27.2384,34.1465 142045613 4213,8125 1988 4181 6169 U07975 7q34 2012-02-07 ENSG00000211745 ENSG00000211745 28616 T cell receptors / TRB locus 12216 other T cell receptor gene NA 8650574 Standard NG_001333 NG_001333 NA Approved TRBV42, TCRBV4S2, TCRBV7S3A2T OTTHUMG00000158525 ENST00000390392.3: chr7.hg19:g.142045613G>T NA hg19 0.02 15.116203 GGGxCAT COVERED NOVEL TRBV4-2-001 KNOWN mRNA_end_NF|cds_end_NF|basic|appris_principal TR_V_gene NA TR_V_gene OTTHUMT00000351231.1 0 5.04208 KEEP 0 1 32 28 970 GG 0.999997 0.999997 0 + 22 60 759 0 0 50.594097 341 60 12444 471 ENST00000390392.3 0.060606 1 TRBV4-2 28616 __UNKNOWN__ __UNKNOWN__ 7 142045802 142045802 __UNKNOWN__ RNA SNP T T C rs2855871 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:142045802T>C ENST00000390392.3 + 0 441 T cell receptor beta variable 4-2 NA NA NA TGTATCTCTGTGCCAGCAGCC 0.562 NA NA NA NA NA NA NA NA NA NA NA 0 124 144 137 NA NA 7 NA 142045802 1975 4159 6134 U07975 7q34 2012-02-07 ENSG00000211745 ENSG00000211745 28616 T cell receptors / TRB locus 12216 other T cell receptor gene NA 8650574 Standard NG_001333 NG_001333 NA Approved TRBV42, TCRBV4S2, TCRBV7S3A2T OTTHUMG00000158525 ENST00000390392.3: chr7.hg19:g.142045802T>C NA hg19 0.02 5.403349 CTGxGCC COVERED NOVEL TRBV4-2-001 KNOWN mRNA_end_NF|cds_end_NF|basic|appris_principal TR_V_gene NA TR_V_gene OTTHUMT00000351231.1 0 2.239842 KEEP 0 1 33 19 567 TT 0.999863 0.999863 0 + 9 60 272 0 0 16.321053 158 60 5593 205 ENST00000390392.3 0.053892 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 142456635 142456635 __UNKNOWN__ IGR SNP G G T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:142456635G>T NA NA TRBV29-1 (7894 upstream) : PRSS1 (683 downstream) NA NA NA ATCCTCCAGAGGCACTGAGAA 0.478 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.142456635G>T NA hg19 0.02 4.531593 AGAxGCA COVERED NOVEL 0 1 4.213723 KEEP 2 0 0 14 494 GG 0.995343 0.995341 0 10 49 371 0 0 26.96538 109 60 4032 151 0.084034 0.999998 PRSS1 5644 __UNKNOWN__ __UNKNOWN__ 7 142458486 142458486 __UNKNOWN__ Silent SNP C C T rs369646357 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:142458486C>T ENST00000311737.7 + 2 127 c.121C>T c.(121-123)Ctg>Ttg p.L41L PRSS1_ENST00000486171.1_Silent_p.L41L NM_002769.4 NP_002760.1 P07477 TRY1_HUMAN protease, serine, 1 (trypsin 1) 41 Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}. NA cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767) blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062) metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) Aprotinin(DB06692) CCAGGTGTCCCTGAATTCTGG 0.552 NA NA NA NA NA NA NA NA NA NA NA 0 125 121 122 NA NA 7 NA 142458486 2203 4300 6503 SO:0001819 synonymous_variant M22612 CCDS5872.1 7q34 2012-10-02 ENSG00000204983 ENSG00000204983 5644 3.4.21.4 Serine peptidases / Serine peptidases 9475 protein-coding gene gene with protein product 276000 TRY1 NA Standard NM_002769 NA Approved uc003wak.2 P07477 OTTHUMG00000158923 ENST00000311737.7:c.121C>T chr7.hg19:g.142458486C>T NA A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7 hg19 CCDS5872.1 0.02 8.775216 TCCxTGA COVERED NOVEL PRSS1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000352538.2 3 6.355311 KEEP 3 1 31 32 1144 CC 0.999998 0.999998 0 + 13 49 464 0 0 30.864028 219 60 8268 362 ENST00000311737.7 0.056034 1 PRSS1 5644 __UNKNOWN__ __UNKNOWN__ 7 142458768 142458768 __UNKNOWN__ Intron SNP C C T rs376959792 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:142458768C>T ENST00000311737.7 + 2 206 PRSS1_ENST00000486171.1_Intron NM_002769.4 NP_002760.1 P07477 TRY1_HUMAN protease, serine, 1 (trypsin 1) NA NA cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767) blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062) metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) Aprotinin(DB06692) CATGAAACAGCAAGGGTTGTG 0.488 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M22612 CCDS5872.1 7q34 2012-10-02 ENSG00000204983 ENSG00000204983 5644 3.4.21.4 Serine peptidases / Serine peptidases 9475 protein-coding gene gene with protein product 276000 TRY1 NA Standard NM_002769 NA Approved uc003wak.2 P07477 OTTHUMG00000158923 ENST00000311737.7:c.200+203C>T chr7.hg19:g.142458768C>T NA A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7 hg19 CCDS5872.1 0.02 6.444533 CAGxAAG COVERED NOVEL PRSS1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000352538.2 4 3.345753 KEEP 1 1 31 22 785 CC 0.999892 0.999892 0 + 6 60 218 0 0 13.784909 141 60 5208 223 ENST00000311737.7 0.040816 1 PRSS1 5644 __UNKNOWN__ __UNKNOWN__ 7 142458805 142458805 __UNKNOWN__ Intron SNP T T C rs371629838 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:142458805T>C ENST00000311737.7 + 2 206 PRSS1_ENST00000486171.1_Intron NM_002769.4 NP_002760.1 P07477 TRY1_HUMAN protease, serine, 1 (trypsin 1) NA NA cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767) blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062) metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) Aprotinin(DB06692) GGGATGATCTTGGGGTGGTGA 0.448 NA T||| 12 0.00239617 0.0091 0.0 5008 , , NA 20602 0.0 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M22612 CCDS5872.1 7q34 2012-10-02 ENSG00000204983 ENSG00000204983 5644 3.4.21.4 Serine peptidases / Serine peptidases 9475 protein-coding gene gene with protein product 276000 TRY1 NA Standard NM_002769 NA Approved uc003wak.2 P07477 OTTHUMG00000158923 ENST00000311737.7:c.200+240T>C chr7.hg19:g.142458805T>C NA A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7 hg19 CCDS5872.1 0.02 9.482858 TCTxGGG COVERED NOVEL PRSS1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000352538.2 7 4.882745 KEEP 1 2 65 39 1207 TT 1 1 0 + 7 60 266 0 0 16.559731 207 60 7498 365 ENST00000311737.7 0.03271 1 PRSS1 5644 __UNKNOWN__ __UNKNOWN__ 7 142459679 142459679 __UNKNOWN__ Silent SNP G G A rs376671702 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:142459679G>A ENST00000311737.7 + 3 261 c.255G>A c.(253-255)gaG>gaA p.E85E PRSS1_ENST00000486171.1_Silent_p.E99E NM_002769.4 NP_002760.1 P07477 TRY1_HUMAN protease, serine, 1 (trypsin 1) 85 Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}. NA cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767) blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062) metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) Aprotinin(DB06692) AGGGGAATGAGCAGTTCATCA 0.537 NA G||| 2 0.000399361 0.0015 0.0 5008 , , NA 19152 0.0 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 232 216 221 NA NA 7 NA 142459679 2203 4300 6503 SO:0001819 synonymous_variant M22612 CCDS5872.1 7q34 2012-10-02 ENSG00000204983 ENSG00000204983 5644 3.4.21.4 Serine peptidases / Serine peptidases 9475 protein-coding gene gene with protein product 276000 TRY1 NA Standard NM_002769 NA Approved uc003wak.2 P07477 OTTHUMG00000158923 ENST00000311737.7:c.255G>A chr7.hg19:g.142459679G>A NA A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7 hg19 CCDS5872.1 0.02 15.105761 TGAxCAG COVERED NOVEL PRSS1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000352538.2 0 12.811734 KEEP 3 2 61 64 2323 GG 1 1 0 + 12 43 416 0 0 24.738238 353 60 13339 516 ENST00000311737.7 0.032877 1 CLCN1 1180 __UNKNOWN__ __UNKNOWN__ 7 143020793 143020793 __UNKNOWN__ Intron SNP C C T rs2272254 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:143020793C>T ENST00000343257.2 + 6 861 CLCN1_ENST00000495612.1_Intron NM_000083.2 NP_000074 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 NA NA chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810) chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383) adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247) breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) TTTCCCTCCACGTTTCCCTCG 0.607 NA C||| 245 0.0489217 0.0 0.1023 5008 , , NA 18295 0.1677 NA 0.001 False NA ,,, NA NA NA 2504 0.0041 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Z25884 CCDS5881.1 7q12 2012-09-26 2012-02-23 ENSG00000188037 ENSG00000188037 1180 Ion channels / Chloride channels : Voltage-sensitive 2019 protein-coding gene gene with protein product Thomsen disease, autosomal dominant 118425 chloride channel 1, skeletal muscle NA 1379744 Standard NM_000083 NM_000083 NA Approved CLC1, ClC-1 uc003wcr.1 P35523 OTTHUMG00000152695 ENST00000343257.2:c.774+314C>T chr7.hg19:g.143020793C>T NA A4D2H5|Q2M202 hg19 CCDS5881.1 0.02 32.051389 CCAxGTT COVERED NOVEL CLCN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000327420.1 5 24.678567 KEEP 0 0 0 82 2823 CC 1 1 0 + 47 60 1704 0 0 117.273134 679 60 23589 994 ENST00000343257.2 0.064738 1 FAM131B 9715 __UNKNOWN__ __UNKNOWN__ 7 143053723 143053723 __UNKNOWN__ Missense_Mutation SNP C C T rs17854363 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:143053723C>T ENST00000443739.2 - 7 1151 c.1003G>A c.(1003-1005)Gct>Act p.A335T FAM131B_ENST00000409408.1_Missense_Mutation_p.A307T|FAM131B_ENST00000409578.1_Missense_Mutation_p.A323T|FAM131B_ENST00000409222.3_Missense_Mutation_p.A307T|FAM131B_ENST00000409346.1_Missense_Mutation_p.A307T NM_001031690.2|NM_001278297.1 NP_001026860.2|NP_001265226.1 Q86XD5 F131B_HUMAN family with sequence similarity 131, member B 307 NA breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2) 24 Melanoma(164;0.205) CGGCTGAGAGCGGTAGACATC 0.582 NA C||| 941 0.187899 0.112 0.2406 5008 , , NA 19428 0.2679 NA 0.2087 False NA ,,, NA NA NA 2504 0.1493 NA NA NA NA 0 C THR/ALA,THR/ALA 546,3860 244.0+/-253.5 36,474,1693 180 162 168 919,1003 5.8 1 7 dbSNP_123 168 1662,6938 308.1+/-308.7 168,1326,2806 yes missense,missense FAM131B NM_014690.4,NM_001031690.2 58,58 204,1800,4499 TT,TC,CC 19.3256,12.3922,16.9768 benign,benign 307/333,335/361 143053723 2208,10798 2203 4300 6503 SO:0001583 missense BC045611 CCDS5882.1, CCDS47734.1 7q34 2007-03-20 ENSG00000159784 ENSG00000159784 9715 22202 protein-coding gene gene with protein product NA Standard NM_014690 NM_014690 NA Approved KIAA0773 uc010lpa.3 Q86XD5 OTTHUMG00000152697 ENST00000443739.2:c.1003G>A chr7.hg19:g.143053723C>T ENSP00000410603:p.Ala335Thr NA A4D2H6|A6NDW3|A8K605|B8ZZN2|D3DXE3|J3KQX2|Q7L0D6|Q86T97 hg19 CCDS47734.1 0.02 24.65763 GAGxGGT COVERED 487 0.222985347985348 63 0.12804878048780488 86 0.23756906077348067 165 0.28846153846153844 173 0.22823218997361477 C 15.60 2.881674 0.51908 0.123922 0.193256 ENSG00000159784 ENST00000443739;ENST00000409578;ENST00000409346;ENST00000452076;ENST00000409408;ENST00000409222 T;T;T;T;T 0.23950 1.88;1.88;1.88;1.88;1.88 5.81 5.81 0.92471 . 0.539404 0.18955 N 0.126564 T 0.00012 0.0000 L 0.40543 1.245 0.26047 P 0.9815394 B;P 0.38642 0.198;0.641 B;B 0.28305 0.088;0.08 T 0.48843 -0.8999 9 0.17832 T 0.49 -6.3713 15.5509 0.76152 0.0:0.8627:0.1373:0.0 rs17854363 323;307 Q86XD5-2;Q86XD5 .;F131B_HUMAN T 335;323;307;311;307;307 ENSP00000410603:A335T;ENSP00000386568:A323T;ENSP00000386984:A307T;ENSP00000387017:A307T;ENSP00000387147:A307T ENSP00000387147:A307T A - 1 0 FAM131B 142763845 0.962000 0.33011 0.959000 0.39883 0.790000 0.44656 3.776000 0.55356 2.746000 0.94184 0.655000 0.94253 GCT NOVEL FAM131B-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000327425.3 2 14.17921 KEEP 0 1 28 57 2010 CC 1 1 0 - 25 60 848 0 0 52.102173 569 60 20227 839 ENST00000443739.2 0.042088 1 FAM131B 9715 __UNKNOWN__ __UNKNOWN__ 7 143054309 143054309 __UNKNOWN__ Intron SNP G G A rs4236482 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:143054309G>A ENST00000443739.2 - 6 759 FAM131B_ENST00000409408.1_Intron|FAM131B_ENST00000409578.1_Intron|FAM131B_ENST00000409222.3_Intron|FAM131B_ENST00000409346.1_Intron NM_001031690.2|NM_001278297.1 NP_001026860.2|NP_001265226.1 Q86XD5 F131B_HUMAN family with sequence similarity 131, member B NA NA breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2) 24 Melanoma(164;0.205) GCTGAGTGGAGGCAGCTGAGA 0.502 NA G||| 943 0.188299 0.112 0.2406 5008 , , NA 21240 0.2639 NA 0.2117 False NA ,,, NA NA NA 2504 0.1524 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC045611 CCDS5882.1, CCDS47734.1 7q34 2007-03-20 ENSG00000159784 ENSG00000159784 9715 22202 protein-coding gene gene with protein product NA Standard NM_014690 NM_014690 NA Approved KIAA0773 uc010lpa.3 Q86XD5 OTTHUMG00000152697 ENST00000443739.2:c.610+63C>T chr7.hg19:g.143054309G>A NA A4D2H6|A6NDW3|A8K605|B8ZZN2|D3DXE3|J3KQX2|Q7L0D6|Q86T97 hg19 CCDS47734.1 0.02 4.541332 GGAxGCA COVERED NOVEL FAM131B-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000327425.3 1 2.708659 KEEP 0 0 0 9 307 GG 0.99254 0.992538 0 - 7 60 262 0 0 18.011533 111 60 4121 146 ENST00000443739.2 0.059322 0.999998 ZYX 7791 __UNKNOWN__ __UNKNOWN__ 7 143081117 143081117 __UNKNOWN__ Intron SNP C C G rs62472687 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:143081117C>G ENST00000322764.5 + 5 1368 ZYX_ENST00000392910.2_Intron|ZYX_ENST00000449423.2_Intron NM_001010972.1|NM_003461.4 NP_001010972.1|NP_003452.1 Q15942 ZYX_HUMAN zyxin NA NA cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|integrin-mediated signaling pathway (GO:0007229)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032) cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725) poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270) breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1) 17 Melanoma(164;0.205) gtgttgggttctgtatctagt 0.398 NA C||| 857 0.171126 0.0507 0.3112 5008 , , NA 23840 0.2371 NA 0.1342 False NA ,,, NA NA NA 2504 0.2045 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X95735 CCDS5883.1 7q32 2010-02-26 ENSG00000159840 ENSG00000159840 7791 13200 protein-coding gene gene with protein product 602002 NA 8917469, 8940160 Standard NM_003461 XM_005250052 NA Approved uc003wcx.3 Q15942 OTTHUMG00000023822 ENST00000322764.5:c.1023+702C>G chr7.hg19:g.143081117C>G NA A4D2G6|Q6I9S4 hg19 CCDS5883.1 0.02 9.36169 GTTxTGT COVERED NOVEL ZYX-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000156296.2 2 13.540715 KEEP 0 0 0 45 1440 CC 1 1 0 + 8 60 294 0 0 18.586912 195 60 7091 258 ENST00000322764.5 0.039409 1 EPHA1 2041 __UNKNOWN__ __UNKNOWN__ 7 143088897 143088897 __UNKNOWN__ Intron SNP C C T rs62472724 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:143088897C>T ENST00000275815.3 - 17 2783 NM_005232.4 NP_005223.4 P21709 EPHA1_HUMAN EPH receptor A1 NA NA activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446) integral component of plasma membrane (GO:0005887) ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3) 51 Melanoma(164;0.205) Myeloproliferative disorder(862;0.0255) TCAGTCACAGCGGGTACATGG 0.567 NA C||| 849 0.169529 0.031 0.2997 5008 , , NA 20373 0.2411 NA 0.1521 False NA ,,, NA NA NA 2504 0.2086 NA NA NA NA 0 C 211,4195 129.0+/-165.8 4,203,1996 55 43 47 -4.7 0 7 dbSNP_129 47 1167,7433 236.8+/-268.9 81,1005,3214 no intron EPHA1 NM_005232.4 85,1208,5210 TT,TC,CC 13.5698,4.7889,10.5951 143088897 1378,11628 2203 4300 6503 SO:0001627 intron_variant M18391 CCDS5884.1 7q32-q36 2013-02-11 2004-10-28 ENSG00000146904 ENSG00000146904 2041 2.7.10.1 EPH receptors, Sterile alpha motif (SAM) domain containing, Fibronectin type III domain containing 3385 protein-coding gene gene with protein product 179610 EphA1 EPHT, EPHT1 NA 9267020 Standard NM_005232 NA Approved EPH uc003wcz.3 P21709 OTTHUMG00000155894 ENST00000275815.3:c.2697-29G>A chr7.hg19:g.143088897C>T NA A1L3V3|B5A966|B5A967|Q15405 hg19 CCDS5884.1 0.02 6.205873 CAGxGGG COVERED NOVEL EPHA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000342154.1 1 18.658089 KEEP 0 0 0 62 2119 CC 1 1 0 - 6 60 221 0 0 13.457602 180 60 6165 302 ENST00000275815.3 0.032258 1 EPHA1 2041 __UNKNOWN__ __UNKNOWN__ 7 143095851 143095851 __UNKNOWN__ Silent SNP C C T rs55706059 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:143095851C>T ENST00000275815.3 - 6 1265 c.1179G>A c.(1177-1179)tcG>tcA p.S393S NM_005232.4 NP_005223.4 P21709 EPHA1_HUMAN EPH receptor A1 393 Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}. NA activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446) integral component of plasma membrane (GO:0005887) ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3) 51 Melanoma(164;0.205) Myeloproliferative disorder(862;0.0255) GGGCCCCCGGCGAGAAGTGCA 0.607 NA C||| 3 0.000599042 0.0 0.0 5008 , , NA 15764 0.003 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 53 49 50 NA NA 7 NA 143095851 2203 4300 6503 SO:0001819 synonymous_variant M18391 CCDS5884.1 7q32-q36 2013-02-11 2004-10-28 ENSG00000146904 ENSG00000146904 2041 2.7.10.1 EPH receptors, Sterile alpha motif (SAM) domain containing, Fibronectin type III domain containing 3385 protein-coding gene gene with protein product 179610 EphA1 EPHT, EPHT1 NA 9267020 Standard NM_005232 NA Approved EPH uc003wcz.3 P21709 OTTHUMG00000155894 ENST00000275815.3:c.1179G>A chr7.hg19:g.143095851C>T NA A1L3V3|B5A966|B5A967|Q15405 hg19 CCDS5884.1 0.02 6.384622 CGGxGAG COVERED NOVEL EPHA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000342154.1 0 13.52404 KEEP 0 0 0 45 1582 CC 1 1 0 - 7 60 261 0 0 16.593347 173 60 6147 274 ENST00000275815.3 0.038889 1 EPHA1-AS1 285965 __UNKNOWN__ __UNKNOWN__ 7 143169357 143169357 __UNKNOWN__ RNA SNP C C T rs7793436 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:143169357C>T ENST00000429289.1 + 0 206 NR_033897.1 EPHA1 antisense RNA 1 NA NA NA tccttattgccttcatgtctt 0.507 NA C||| 1510 0.301518 0.0446 0.3487 5008 , , NA 17674 0.622 NA 0.2654 False NA ,,, NA NA NA 2504 0.3221 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AL833583 7q35 2012-10-12 2012-08-15 ENSG00000229153 ENSG00000229153 285965 Long non-coding RNAs 27799 non-coding RNA RNA, long non-coding EPHA1 antisense RNA 1 (non-protein coding) NA Standard NR_033897 NR_033897 NA Approved uc003wda.4 OTTHUMG00000155893 ENST00000429289.1: chr7.hg19:g.143169357C>T NA hg19 0.02 2.214 TGCxTTC COVERED NOVEL EPHA1-AS1-001 KNOWN basic antisense NA antisense OTTHUMT00000342151.1 0 3.611869 KEEP 0 0 0 12 439 CC 0.993634 0.967765 0 + 4 60 152 0 0 10.916981 50 60 1914 82 ENST00000429289.1 0.074074 0.973965 TAS2R41 259287 __UNKNOWN__ __UNKNOWN__ 7 143175154 143175154 __UNKNOWN__ Silent SNP G G A rs1404635 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:143175154G>A ENST00000408916.1 + 1 189 c.189G>A c.(187-189)acG>acA p.T63T EPHA1-AS1_ENST00000429289.1_RNA NM_176883.2 NP_795364.2 P59536 T2R41_HUMAN taste receptor, type 2, member 41 63 NA sensory perception of taste (GO:0050909) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1) 18 Melanoma(164;0.15) TGGTTGGGACGGTGCACAACT 0.572 NA G||| 1057 0.211062 0.0219 0.2695 5008 , , NA 15922 0.2956 NA 0.2535 False NA ,,, NA NA NA 2504 0.2945 NA NA NA NA 0 G 234,3884 10,214,1835 125 125 125 189 4.9 0.1 7 dbSNP_88 125 2283,6107 311,1661,2223 no coding-synonymous TAS2R41 NM_176883.2 321,1875,4058 AA,AG,GG 27.211,5.6824,20.1231 63/308 143175154 2517,9991 2059 4195 6254 SO:0001819 synonymous_variant AF494232 CCDS43663.1 7q34 2012-08-22 ENSG00000221855 ENSG00000221855 259287 Taste receptors / Type 2, GPCR / Unclassified : Taste receptors 18883 protein-coding gene gene with protein product 613965 NA 12379855 Standard NM_176883 NA Approved T2R59 uc003wdc.1 P59536 OTTHUMG00000155892 ENST00000408916.1:c.189G>A chr7.hg19:g.143175154G>A NA P59550|Q495I2|Q50KJ5|Q50KJ6|Q50KJ7|Q645W7 hg19 CCDS43663.1 0.02 15.40768 GACxGTG COVERED NOVEL TAS2R41-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000342149.1 1 13.844933 KEEP 0 0 0 46 1613 GG 1 1 0 + 16 60 592 1 0 37.693548 383 60 13024 543 ENST00000408916.1 0.0401 1 TAS2R41 259287 __UNKNOWN__ __UNKNOWN__ 7 143175345 143175345 __UNKNOWN__ Missense_Mutation SNP C C T rs10278721 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:143175345C>T ENST00000408916.1 + 1 380 c.380C>T c.(379-381)cCa>cTa p.P127L EPHA1-AS1_ENST00000429289.1_RNA NM_176883.2 NP_795364.2 P59536 T2R41_HUMAN taste receptor, type 2, member 41 127 NA P -> L (in dbSNP:rs10278721). {ECO:0000269|PubMed:12379855, ECO:0000269|PubMed:15496549}. sensory perception of taste (GO:0050909) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1) 18 Melanoma(164;0.15) TGGAGGTTCCCAGGGTGGGTG 0.498 NA C||| 1058 0.211262 0.0227 0.2695 5008 , , NA 15749 0.2956 NA 0.2535 False NA ,,, NA NA NA 2504 0.2945 NA NA NA NA 0 C LEU/PRO 232,3666 9,214,1726 57 56 57 380 1.5 0.3 7 dbSNP_119 57 2266,6026 312,1642,2192 yes missense TAS2R41 NM_176883.2 98 321,1856,3918 TT,TC,CC 27.3275,5.9518,20.4922 benign 127/308 143175345 2498,9692 1949 4146 6095 SO:0001583 missense AF494232 CCDS43663.1 7q34 2012-08-22 ENSG00000221855 ENSG00000221855 259287 Taste receptors / Type 2, GPCR / Unclassified : Taste receptors 18883 protein-coding gene gene with protein product 613965 NA 12379855 Standard NM_176883 NA Approved T2R59 uc003wdc.1 P59536 OTTHUMG00000155892 ENST00000408916.1:c.380C>T chr7.hg19:g.143175345C>T ENSP00000386201:p.Pro127Leu NA P59550|Q495I2|Q50KJ5|Q50KJ6|Q50KJ7|Q645W7 hg19 CCDS43663.1 0.02 8.521907 TCCxAGG COVERED 497 0.22756410256410256 19 0.03861788617886179 95 0.26243093922651933 193 0.3374125874125874 190 0.25065963060686014 C 15.91 2.973193 0.53614 0.059518 0.273275 ENSG00000221855 ENST00000408916 T 0.33654 1.4 5.7 1.47 0.22746 . 0.790114 0.10721 U 0.641758 T 0.00012 0.0000 L 0.35593 1.075 0.80722 P 0.0 B 0.33583 0.418 B 0.32393 0.145 T 0.42068 -0.9473 9 0.62326 D 0.03 . 1.6792 0.02828 0.1616:0.3844:0.2791:0.175 rs10278721;rs10278721 127 P59536 T2R41_HUMAN L 127 ENSP00000386201:P127L ENSP00000386201:P127L P + 2 0 TAS2R41 142885467 0.000000 0.05858 0.272000 0.24630 0.814000 0.46013 0.291000 0.18994 0.745000 0.32763 0.655000 0.94253 CCA NOVEL TAS2R41-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000342149.1 3 4.815822 KEEP 0 0 0 16 572 CC 0.997832 0.997832 0 + 9 60 321 0 0 20.084026 211 60 7905 266 ENST00000408916.1 0.040909 1 FAM115C 285966 __UNKNOWN__ __UNKNOWN__ 7 143426263 143426263 __UNKNOWN__ 3'UTR SNP G G T rs72611578 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:143426263G>T ENST00000441159.2 + 0 4329 FAM115C_ENST00000409703.3_3'UTR A6NFQ2 F115C_HUMAN family with sequence similarity 115, member C NA NA hematopoietic progenitor cell differentiation (GO:0002244) endometrium(2)|large_intestine(4)|lung(2)|prostate(1) 9 tttactgtgagtgatttaatg 0.383 NA G||| 456 0.0910543 0.0045 0.1412 5008 , , NA 19939 0.2252 NA 0.0338 False NA ,,, NA NA NA 2504 0.093 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY167570 CCDS34769.1, CCDS47735.1, CCDS47735.2 7q35 2010-08-03 2008-06-12 2008-06-12 ENSG00000170379 ENSG00000170379 285966 26878 protein-coding gene gene with protein product family with sequence similarity 139, member A FAM139A NA Standard NM_173678 NM_173678 NA Approved FLJ40722 uc003wdf.3 A6NFQ2 OTTHUMG00000153232 ENST00000441159.2:c.*1503G>T chr7.hg19:g.143426263G>T NA B4DK02|Q14D25|Q17RQ4|Q8IWQ0|Q8NF84 hg19 0.02 4.370003 TGAxTGA COVERED NOVEL FAM115C-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000330287.1 3 6.620106 KEEP 0 0 0 22 781 GG 0.999879 0.999878 0 + 5 60 187 0 0 11.954137 121 60 4570 169 ENST00000441159.2 0.039683 1 OR2F2 135948 __UNKNOWN__ __UNKNOWN__ 7 143633297 143633297 __UNKNOWN__ 3'UTR SNP A A G rs984764 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:143633297A>G ENST00000408955.2 + 0 1039 NM_001004685.1 NP_001004685.1 O95006 OR2F2_HUMAN olfactory receptor, family 2, subfamily F, member 2 NA NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1) 32 Melanoma(164;0.0903) ACATTACTTTAAGAAGAAGCT 0.433 NA G||| 2332 0.465655 0.7209 0.4193 5008 , , NA 21269 0.5694 NA 0.3191 False NA ,,, NA NA NA 2504 0.1973 NA NA NA NA 0 G 2476,1432 789,898,267 22 21 21 2.1 0 7 dbSNP_86 21 2680,5652 466,1748,1952 no near-gene-3 1255,2646,2219 GG,GA,AA 32.1651,36.6428,42.1242 143633297 5156,7084 1954 4166 6120 SO:0001624 3_prime_UTR_variant CCDS43666.1 7q33-q35 2012-08-09 ENSG00000221910 ENSG00000221910 135948 GPCR / Class A : Olfactory receptors 8247 protein-coding gene gene with protein product NA Standard NM_001004685 NA Approved OR7-1 uc011ktv.2 O95006 OTTHUMG00000157768 ENST00000408955.2:c.*18A>G chr7.hg19:g.143633297A>G NA A4D2G0|Q6IFP8 hg19 CCDS43666.1 0.02 19.873426 TTTxAGA COVERED NOVEL OR2F2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000349570.1 3 14.979246 KEEP 0 1 38 63 1942 AA 1 1 0 + 12 60 454 0 0 27.014984 446 60 15980 656 ENST00000408955.2 0.026201 1 OR6B1 135946 __UNKNOWN__ __UNKNOWN__ 7 143701516 143701516 __UNKNOWN__ Missense_Mutation SNP C C T rs7787378 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:143701516C>T ENST00000408922.2 + 1 495 c.427C>T c.(427-429)Cgc>Tgc p.R143C NM_001005281.1 NP_001005281.1 O95007 OR6B1_HUMAN olfactory receptor, family 6, subfamily B, member 1 143 NA R -> C (in dbSNP:rs7787378). integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 27 Melanoma(164;0.0783) GCTCTGCTTCCGCCTCGCTCT 0.562 NA C||| 813 0.16234 0.0764 0.3674 5008 , , NA 21958 0.2411 NA 0.0885 False NA ,,, NA NA NA 2504 0.1278 NA NA NA NA 0 C CYS/ARG 303,3985 11,281,1852 80 83 82 427 5.3 0.5 7 dbSNP_116 82 796,7768 49,698,3535 yes missense OR6B1 NM_001005281.1 180 60,979,5387 TT,TC,CC 9.2947,7.0662,8.5512 benign 143/312 143701516 1099,11753 2144 4282 6426 SO:0001583 missense CCDS43667.1 7q33-q35 2012-08-09 ENSG00000221813 ENSG00000221813 135946 GPCR / Class A : Olfactory receptors 8354 protein-coding gene gene with protein product NA Standard NM_001005281 NA Approved OR7-3 uc003wdt.1 O95007 OTTHUMG00000157765 ENST00000408922.2:c.427C>T chr7.hg19:g.143701516C>T ENSP00000386151:p.Arg143Cys NA A4D2G2|B9EH47|Q6IFP6|Q96R38 hg19 CCDS43667.1 0.02 21.196698 TTCxGCC COVERED 358 0.16391941391941392 38 0.07723577235772358 111 0.30662983425414364 141 0.2465034965034965 68 0.08970976253298153 C 8.409 0.843804 0.16963 0.070662 0.092947 ENSG00000221813 ENST00000408922 T 0.00123 8.7 5.26 5.26 0.73747 GPCR, rhodopsin-like superfamily (1); 0.415982 0.17515 U 0.171466 T 0.00012 0.0000 L 0.28458 0.855 0.41184 P 0.013746000000000036 B 0.09022 0.002 B 0.18561 0.022 T 0.50955 -0.8766 9 0.34782 T 0.22 . 14.2547 0.66043 0.0:1.0:0.0:0.0 rs7787378;rs52795515;rs7787378 143 O95007 OR6B1_HUMAN C 143 ENSP00000386151:R143C ENSP00000386151:R143C R + 1 0 OR6B1 143332449 0.022000 0.18835 0.511000 0.27724 0.142000 0.21351 1.965000 0.40471 2.739000 0.93911 0.655000 0.94253 CGC NOVEL OR6B1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000349566.1 2 19.261529 KEEP 0 0 0 64 2173 CC 1 1 0 + 26 60 974 0 0 66.56255 428 60 15063 610 ENST00000408922.2 0.057269 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 143748520 143748520 __UNKNOWN__ IGR SNP T T G rs1919969 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:143748520T>G NA NA OR2A5 (47 upstream) : OR2A25 (22754 downstream) NA NA NA GTCTCATCTCTTAGATTTCTG 0.438 NA .||| 696 0.138978 0.0393 0.3573 5008 , , NA 20689 0.2133 NA 0.0467 False NA ,,, NA NA NA 2504 0.137 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.143748520T>G NA hg19 0.02 15.440051 CTCxTAG COVERED NOVEL 0 2 10.53264 KEEP 0 0 0 35 1144 TT 0.999999 0.999999 0 20 60 731 0 0 49.062039 342 60 12274 435 0.055249 1 OR2A25 392138 __UNKNOWN__ __UNKNOWN__ 7 143771408 143771408 __UNKNOWN__ Silent SNP G G C rs59319753 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:143771408G>C ENST00000408898.2 + 1 134 c.96G>C c.(94-96)ctG>ctC p.L32L NM_001004488.1 NP_001004488.1 A4D2G3 O2A25_HUMAN olfactory receptor, family 2, subfamily A, member 25 32 NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Melanoma(164;0.0783) TCTTCTCCCTGTTCTACATCT 0.527 NA .||| 1689 0.33726 0.2186 0.4467 5008 , , NA 19151 0.628 NA 0.2107 False NA ,,, NA NA NA 2504 0.2505 NA NA NA NA 0 G 899,3507 336.5+/-304.4 82,735,1386 80 84 83 96 0.6 1 7 dbSNP_129 83 1794,6806 320.0+/-314.4 190,1414,2696 no coding-synonymous OR2A25 NM_001004488.1 272,2149,4082 CC,CG,GG 20.8605,20.404,20.7058 32/311 143771408 2693,10313 2203 4300 6503 SO:0001819 synonymous_variant CCDS43669.1 7q35 2012-08-09 2004-03-10 ENSG00000221933 ENSG00000221933 392138 GPCR / Class A : Olfactory receptors 19562 protein-coding gene gene with protein product OR2A25P, OR2A27 NA Standard NM_001004488 NA Approved uc011ktx.2 A4D2G3 OTTHUMG00000158013 ENST00000408898.2:c.96G>C chr7.hg19:g.143771408G>C NA B2RNC9 hg19 CCDS43669.1 0.02 18.69035 CCTxTTC COVERED NOVEL OR2A25-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000350000.1 0 3.611658 KEEP 0 0 0 12 414 GG 0.993634 0.993634 0 + 20 60 749 0 0 49.494321 402 60 14870 463 ENST00000408898.2 0.047393 1 OR2A25 392138 __UNKNOWN__ __UNKNOWN__ 7 143771557 143771557 __UNKNOWN__ Missense_Mutation SNP T T C rs61731397 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:143771557T>C ENST00000408898.2 + 1 283 c.245T>C c.(244-246)gTg>gCg p.V82A NM_001004488.1 NP_001004488.1 A4D2G3 O2A25_HUMAN olfactory receptor, family 2, subfamily A, member 25 82 NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Melanoma(164;0.0783) CAGATGCTGGTGAACCTCCTG 0.552 NA .||| 746 0.148962 0.0318 0.3386 5008 , , NA 20884 0.2877 NA 0.0606 False NA ,,, NA NA NA 2504 0.1207 NA NA NA NA 0 T ALA/VAL 140,4266 97.1+/-135.8 1,138,2064 79 83 82 245 0.9 0.7 7 dbSNP_129 82 445,8155 133.5+/-191.0 19,407,3874 yes missense OR2A25 NM_001004488.1 64 20,545,5938 CC,CT,TT 5.1744,3.1775,4.4979 benign 82/311 143771557 585,12421 2203 4300 6503 SO:0001583 missense CCDS43669.1 7q35 2012-08-09 2004-03-10 ENSG00000221933 ENSG00000221933 392138 GPCR / Class A : Olfactory receptors 19562 protein-coding gene gene with protein product OR2A25P, OR2A27 NA Standard NM_001004488 NA Approved uc011ktx.2 A4D2G3 OTTHUMG00000158013 ENST00000408898.2:c.245T>C chr7.hg19:g.143771557T>C ENSP00000386167:p.Val82Ala NA B2RNC9 hg19 CCDS43669.1 0.02 7.314577 TGGxGAA COVERED 340 0.15567765567765568 24 0.04878048780487805 100 0.27624309392265195 167 0.291958041958042 49 0.06464379947229551 T 5.560 0.288267 0.10513 0.031775 0.051744 ENSG00000221933 ENST00000408898 T 0.00388 7.59 4.88 0.922 0.19408 GPCR, rhodopsin-like superfamily (1); . . . . T 0.00012 0.0000 N 0.05230 -0.09 0.80722 P 0.0 B 0.13145 0.007 B 0.14023 0.01 T 0.06162 -1.0842 8 0.11485 T 0.65 -1.4616 1.1088 0.01700 0.1502:0.1751:0.1554:0.5194 rs61731397 82 A4D2G3 O2A25_HUMAN A 82 ENSP00000386167:V82A ENSP00000386167:V82A V + 2 0 OR2A25 143402490 0.000000 0.05858 0.651000 0.29564 0.932000 0.56968 -0.634000 0.05477 0.315000 0.23110 0.460000 0.39030 GTG NOVEL OR2A25-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000350000.1 2 4.811822 KEEP 0 0 0 16 458 TT 0.997832 0.997832 0 + 9 60 301 0 0 17.676249 235 60 8198 290 ENST00000408898.2 0.036885 1 CTAGE4 100128553 __UNKNOWN__ __UNKNOWN__ 7 143882673 143882673 __UNKNOWN__ Missense_Mutation SNP C C T rs201010806 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:143882673C>T ENST00000486333.1 + 1 2115 c.2077C>T c.(2077-2079)Ctt>Ttt p.L693F NM_198495.2 NP_940897.2 Q8IX94 CTGE4_HUMAN CTAGE family, member 4 693 Pro-rich. NA integral component of membrane (GO:0016021) endometrium(1)|ovary(2) 3 TGGCCCTGGCCTTATTCCTCC 0.488 NA NA NA NA NA NA NA NA NA NA NA 0 3 4 4 NA NA 7 NA 143882673 116 650 766 SO:0001583 missense AF338232 CCDS55176.1 7q35 2009-10-15 ENSG00000225932 ENSG00000225932 100128553 24772 protein-coding gene gene with protein product cutaneous T-cell lymphoma-associated antigen 4 608910 NA 12839582, 11149944 Standard NM_198495 NM_198495 NA Approved FLJ43692, cTAGE-4 uc010lpc.3 Q8IX94 OTTHUMG00000157997 ENST00000486333.1:c.2077C>T chr7.hg19:g.143882673C>T ENSP00000419539:p.Leu693Phe NA A8K871|O95046 hg19 CCDS55176.1 0.02 4.575433 GGCxTTA COVERED . . . . . . . . . . . 0.639 -0.814097 0.02798 . . ENSG00000225932 ENST00000486333 T 0.05447 3.44 . . . . . . . . T 0.00666 0.0022 N 0.00016 -2.855 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.36625 -0.9740 7 0.02654 T 1 . . . . . 693 Q8IX94 CTGE4_HUMAN F 693 ENSP00000419539:L693F ENSP00000419539:L693F L + 1 0 CTAGE4 143513606 0.830000 0.29337 0.003000 0.11579 0.003000 0.03518 0.348000 0.20031 -1.497000 0.01826 -1.514000 0.00941 CTT NOVEL CTAGE4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000349970.1 5 14.447533 KEEP 130 0 0 48 1756 CC 0.999863 0.999859 0 + 7 27 269 0 0 18.815839 107 50 4142 351 ENST00000486333.1 0.061404 0.999996 ARHGEF35 445328 __UNKNOWN__ __UNKNOWN__ 7 143884103 143884103 __UNKNOWN__ Silent SNP G G A rs4726676 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:143884103G>A ENST00000378115.2 - 2 1503 c.1374C>T c.(1372-1374)tgC>tgT p.C458C ARHGEF35_ENST00000543357.1_Silent_p.C458C NM_001003702.2 NP_001003702.2 A5YM69 ARG35_HUMAN Rho guanine nucleotide exchange factor (GEF) 35 458 NA p.C458C(1) kidney(1)|large_intestine(1)|lung(3)|stomach(1) 6 GCTGGTGAGAGCATCTGATGG 0.502 NA -||| 656 0.13099 0.0234 0.0937 5008 , , NA 14498 0.4008 NA 0.1074 False NA ,,, NA NA NA 2504 0.0491 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) G 115,4147 17,81,2033 29 30 30 1374 -1.9 0 7 dbSNP_111 30 861,7415 174,513,3451 no coding-synonymous ARHGEF35 NM_001003702.2 191,594,5484 AA,AG,GG 10.4036,2.6983,7.7843 458/485 143884103 976,11562 2131 4138 6269 SO:0001819 synonymous_variant AK125680 CCDS34770.1 7q35 2012-07-24 2010-04-13 2010-04-13 ENSG00000213214 ENSG00000213214 445328 Rho guanine nucleotide exchange factors 33846 protein-coding gene gene with protein product Rho guanine nucleotide exchange factor (GEF) 5-like ARHGEF5L NA Standard NM_001003702 NM_001003702 NA Approved FLJ43692, CTAGE4 uc003wdz.2 A5YM69 OTTHUMG00000158010 ENST00000378115.2:c.1374C>T chr7.hg19:g.143884103G>A NA Q6ZUI2 hg19 CCDS34770.1 0.02 4.469791 AGAxCAT COVERED NOVEL ARHGEF35-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000349997.1 1 6.019284 KEEP 0 0 0 20 700 GG 0.999863 0.999862 0 - 13 60 471 0 0 35.186282 112 60 4261 167 ENST00000378115.2 0.104 1 NOBOX 135935 __UNKNOWN__ __UNKNOWN__ 7 144095600 144095600 __UNKNOWN__ Missense_Mutation SNP A A G rs2699503 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:144095600A>G ENST00000483238.1 - 9 1452 c.1453T>C c.(1453-1455)Ttc>Ctc p.F485L NOBOX_ENST00000223140.5_Missense_Mutation_p.F400L|NOBOX_ENST00000467773.1_Missense_Mutation_p.F517L O60393 NOBOX_HUMAN NOBOX oogenesis homeobox 517 Pro-rich. NA oogenesis (GO:0048477)|ovarian follicle development (GO:0001541) cytoplasm (GO:0005737)|nucleus (GO:0005634) RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1) 26 Melanoma(164;0.14) GAGAACTGGAAGGGTCCTGGC 0.597 NA A||| 3487 0.696286 0.6346 0.6138 5008 , , NA 16422 0.8343 NA 0.5596 False NA ,,, NA NA NA 2504 0.8364 NA NA NA NA 0 99 119 113 NA NA 7 NA 144095600 692 1591 2283 SO:0001583 missense 7q35 2011-06-20 ENSG00000106410 ENSG00000106410 135935 Homeoboxes / PRD class 22448 protein-coding gene gene with protein product newborn ovary homeobox-encoding gene 610934 NA 11804785, 16597639 Standard XM_001134420 NM_001080413 NA Approved OG2, Og2x uc022aoj.1 O60393 OTTHUMG00000158051 ENST00000483238.1:c.1453T>C chr7.hg19:g.144095600A>G ENSP00000419565:p.Phe485Leu NA A6NCD3|A8MZN5 hg19 0.02 2.329362 GGAxGGG COVERED 1420 0.6501831501831502 311 0.6321138211382114 213 0.5883977900552486 480 0.8391608391608392 416 0.5488126649076517 A 16.90 3.248965 0.59103 . . ENSG00000106410 ENST00000483238;ENST00000467773;ENST00000223140 T;T;T 0.33865 1.39;1.39;1.39 4.12 2.97 0.34412 . . . . . T 0.00012 0.0000 M 0.61703 1.905 0.40425 P 0.02011200000000002 . . . . . . T 0.06445 -1.0826 6 0.59425 D 0.04 -1.5572 7.6235 0.28200 0.8955:0.0:0.1045:0.0 rs2699503;rs57634895 . . . L 485;517;400 ENSP00000419565:F485L;ENSP00000419457:F517L;ENSP00000223140:F400L ENSP00000223140:F400L F - 1 0 NOBOX 143726533 0.544000 0.26441 0.080000 0.20451 0.009000 0.06853 1.612000 0.36889 0.733000 0.32492 0.533000 0.62120 TTC NOVEL NOBOX-001 NOVEL basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000350094.1 0 2.70826 KEEP 0 0 0 9 282 AA 0.99254 0.991017 0 - 4 60 155 0 0 10.627874 71 60 2637 104 ENST00000483238.1 0.053333 0.998465 NOBOX 135935 __UNKNOWN__ __UNKNOWN__ 7 144096456 144096456 __UNKNOWN__ Intron SNP C C T rs11769787 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:144096456C>T ENST00000483238.1 - 7 1144 NOBOX_ENST00000223140.5_Intron|NOBOX_ENST00000467773.1_Intron O60393 NOBOX_HUMAN NOBOX oogenesis homeobox NA NA oogenesis (GO:0048477)|ovarian follicle development (GO:0001541) cytoplasm (GO:0005737)|nucleus (GO:0005634) RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1) 26 Melanoma(164;0.14) TCTTTAGTTGCCATTTTCCCC 0.567 NA C||| 2723 0.54373 0.4062 0.5159 5008 , , NA 18553 0.8115 NA 0.4235 False NA ,,, NA NA NA 2504 0.5971 NA NA NA NA 0 C 1594,2244 342,910,667 18 19 19 0.7 0 7 dbSNP_120 19 3262,4980 678,1906,1537 no intron NOBOX NM_001080413.3 1020,2816,2204 TT,TC,CC 39.5778,41.532,40.1987 144096456 4856,7224 1919 4121 6040 SO:0001627 intron_variant 7q35 2011-06-20 ENSG00000106410 ENSG00000106410 135935 Homeoboxes / PRD class 22448 protein-coding gene gene with protein product newborn ovary homeobox-encoding gene 610934 NA 11804785, 16597639 Standard XM_001134420 NM_001080413 NA Approved OG2, Og2x uc022aoj.1 O60393 OTTHUMG00000158051 ENST00000483238.1:c.1144+33G>A chr7.hg19:g.144096456C>T NA A6NCD3|A8MZN5 hg19 0.02 4.138536 TTGxCAT COVERED NOVEL NOBOX-001 NOVEL basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000350094.1 1 5.116892 KEEP 0 0 0 17 616 CC 0.999366 0.999366 0 - 14 60 508 0 0 37.672553 127 60 4670 190 ENST00000483238.1 0.099291 1 NOBOX 135935 __UNKNOWN__ __UNKNOWN__ 7 144096598 144096598 __UNKNOWN__ Intron SNP C C T rs11769847 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:144096598C>T ENST00000483238.1 - 7 1058 NOBOX_ENST00000223140.5_Intron|NOBOX_ENST00000467773.1_Intron O60393 NOBOX_HUMAN NOBOX oogenesis homeobox NA NA oogenesis (GO:0048477)|ovarian follicle development (GO:0001541) cytoplasm (GO:0005737)|nucleus (GO:0005634) RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1) 26 Melanoma(164;0.14) AGAATGAAGACTGTAGCTTTG 0.552 NA C||| 3536 0.70607 0.649 0.6282 5008 , , NA 19819 0.8343 NA 0.5795 False NA ,,, NA NA NA 2504 0.8364 NA NA NA NA 0 C 2690,1394 900,890,252 27 32 30 -2.8 0 7 dbSNP_120 30 4784,3572 1415,1954,809 no intron NOBOX NM_001080413.3 2315,2844,1061 TT,TC,CC 42.7477,34.1332,39.9196 144096598 7474,4966 2042 4178 6220 SO:0001627 intron_variant 7q35 2011-06-20 ENSG00000106410 ENSG00000106410 135935 Homeoboxes / PRD class 22448 protein-coding gene gene with protein product newborn ovary homeobox-encoding gene 610934 NA 11804785, 16597639 Standard XM_001134420 NM_001080413 NA Approved OG2, Og2x uc022aoj.1 O60393 OTTHUMG00000158051 ENST00000483238.1:c.1059-23G>A chr7.hg19:g.144096598C>T NA A6NCD3|A8MZN5 hg19 0.02 4.58051 AGAxTGT COVERED NOVEL NOBOX-001 NOVEL basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000350094.1 2 3.310821 KEEP 0 0 0 11 404 CC 0.993072 0.993046 0 - 10 60 370 0 0 27.564869 92 60 3488 137 ENST00000483238.1 0.098039 0.999973 NOBOX 135935 __UNKNOWN__ __UNKNOWN__ 7 144098896 144098896 __UNKNOWN__ Intron SNP T T C rs727712 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:144098896T>C ENST00000483238.1 - 3 292 NOBOX_ENST00000223140.5_Intron|NOBOX_ENST00000467773.1_Intron O60393 NOBOX_HUMAN NOBOX oogenesis homeobox NA NA oogenesis (GO:0048477)|ovarian follicle development (GO:0001541) cytoplasm (GO:0005737)|nucleus (GO:0005634) RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1) 26 Melanoma(164;0.14) TTGAAAAATGTAGACAAATTT 0.408 NA T||| 3535 0.705871 0.6483 0.6282 5008 , , NA 18695 0.8343 NA 0.5795 False NA ,,, NA NA NA 2504 0.8364 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant 7q35 2011-06-20 ENSG00000106410 ENSG00000106410 135935 Homeoboxes / PRD class 22448 protein-coding gene gene with protein product newborn ovary homeobox-encoding gene 610934 NA 11804785, 16597639 Standard XM_001134420 NM_001080413 NA Approved OG2, Og2x uc022aoj.1 O60393 OTTHUMG00000158051 ENST00000483238.1:c.292+65A>G chr7.hg19:g.144098896T>C NA A6NCD3|A8MZN5 hg19 0.02 7.295346 ATGxAGA COVERED NOVEL NOBOX-001 NOVEL basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000350094.1 0 7.21936 KEEP 0 0 0 24 699 TT 0.999909 0.999909 0 - 23 60 869 0 0 67.428834 167 60 5778 255 ENST00000483238.1 0.121053 1 NOBOX 135935 __UNKNOWN__ __UNKNOWN__ 7 144098992 144098992 __UNKNOWN__ Silent SNP G G A rs727714 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:144098992G>A ENST00000483238.1 - 3 261 c.262C>T c.(262-264)Ctg>Ttg p.L88L NOBOX_ENST00000223140.5_Intron|NOBOX_ENST00000467773.1_Silent_p.L88L O60393 NOBOX_HUMAN NOBOX oogenesis homeobox 88 NA oogenesis (GO:0048477)|ovarian follicle development (GO:0001541) cytoplasm (GO:0005737)|nucleus (GO:0005634) RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1) 26 Melanoma(164;0.14) CCAGACACCAGGGGTATGAGT 0.468 NA G||| 3537 0.70627 0.6498 0.6282 5008 , , NA 15997 0.8343 NA 0.5795 False NA ,,, NA NA NA 2504 0.8364 NA NA NA NA 0 G 2506,1274 825,856,209 83 85 84 262 -0.1 0 7 dbSNP_86 84 4700,3520 1362,1976,772 no coding-synonymous NOBOX NM_001080413.3 2187,2832,981 AA,AG,GG 42.8224,33.7037,39.95 88/692 144098992 7206,4794 1890 4110 6000 SO:0001819 synonymous_variant 7q35 2011-06-20 ENSG00000106410 ENSG00000106410 135935 Homeoboxes / PRD class 22448 protein-coding gene gene with protein product newborn ovary homeobox-encoding gene 610934 NA 11804785, 16597639 Standard XM_001134420 NM_001080413 NA Approved OG2, Og2x uc022aoj.1 O60393 OTTHUMG00000158051 ENST00000483238.1:c.262C>T chr7.hg19:g.144098992G>A NA A6NCD3|A8MZN5 hg19 0.02 9.571219 CCAxGGG COVERED NOVEL NOBOX-001 NOVEL basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000350094.1 2 11.737897 KEEP 0 0 0 39 1389 GG 1 1 0 - 25 60 902 0 0 67.584467 212 60 8075 348 ENST00000483238.1 0.105485 1 CNTNAP2 26047 __UNKNOWN__ __UNKNOWN__ 7 147869670 147869670 __UNKNOWN__ Intron SNP T T C rs2074711 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:147869670T>C ENST00000361727.3 + 18 3526 CNTNAP2_ENST00000538075.1_Intron NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 NA NA adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625) axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076) enzyme binding (GO:0019899) NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) TACCTTATTCTGAGGTTAAGA 0.333 NA HNSCC(39;0.1) T||| 1607 0.320887 0.202 0.3487 5008 , , NA 20552 0.5188 NA 0.172 False NA ,,, NA NA NA 2504 0.411 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF193613 CCDS5889.1 7q35 2008-02-04 ENSG00000174469 ENSG00000174469 26047 13830 protein-coding gene gene with protein product 604569 NA 10624965, 10048485 Standard NM_014141 NA Approved Caspr2, KIAA0868, NRXN4 uc003weu.2 Q9UHC6 OTTHUMG00000152743 ENST00000361727.3:c.3010+100T>C chr7.hg19:g.147869670T>C NA D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12 hg19 CCDS5889.1 0.02 3.587444 TTCxGAG COVERED NOVEL CNTNAP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000327668.1 0 3.007743 KEEP 0 0 0 10 296 TT 0.992708 0.992708 0 + 12 60 398 0 0 27.483799 135 60 5009 161 ENST00000361727.3 0.081633 1 ZNF786 136051 __UNKNOWN__ __UNKNOWN__ 7 148768580 148768580 __UNKNOWN__ Silent SNP C C T rs557754340 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:148768580C>T ENST00000491431.1 - 4 1348 c.1284G>A c.(1282-1284)agG>agA p.R428R ZNF786_ENST00000316286.9_Silent_p.R342R|ZNF786_ENST00000451334.3_Silent_p.R391R NM_152411.3 NP_689624.2 Q8N393 ZN786_HUMAN zinc finger protein 786 428 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2) 26 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) TGCCACACTTCCTGCAGGAGA 0.622 NA C||| 2 0.000399361 0.0 0.0 5008 , , NA 21798 0.002 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 43 46 45 NA NA 7 NA 148768580 2165 4289 6454 SO:0001819 synonymous_variant AK095701, AL834510 CCDS47738.1 7q36.1 2013-01-08 ENSG00000197362 ENSG00000197362 136051 Zinc fingers, C2H2-type, - 21806 protein-coding gene gene with protein product NA Standard NM_152411 NM_152411 NA Approved DKFZp762I137 uc003wfh.2 Q8N393 OTTHUMG00000158975 ENST00000491431.1:c.1284G>A chr7.hg19:g.148768580C>T NA A1A568|B4DMI1 hg19 CCDS47738.1 0.02 12.747783 CTTxCTG COVERED . . . . . . . . . . C 5.945 0.358410 0.11239 . . ENSG00000197362 ENST00000538412 . . . 4.34 -3.98 0.04082 . . . . . T 0.17195 0.0413 . . . 0.09310 N 1 . . . . . . T 0.29150 -1.0021 5 0.21014 T 0.42 0.1981 2.9375 0.05819 0.2281:0.1541:0.4503:0.1675 . . . . K 342 . ENSP00000445080:E342K E - 1 0 ZNF786 148399513 0.000000 0.05858 0.000000 0.03702 0.019000 0.09904 -2.861000 0.00726 -0.419000 0.07439 0.655000 0.94253 GAA NOVEL ZNF786-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000352751.1 4 35.167276 KEEP 0 0 0 117 4089 CC 1 1 0 - 10 60 338 0 0 19.536154 330 60 12322 577 ENST00000491431.1 0.029412 1 ZNF777 27153 __UNKNOWN__ __UNKNOWN__ 7 149130080 149130080 __UNKNOWN__ Intron SNP C C T rs57185523 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:149130080C>T ENST00000247930.4 - 6 1663 NM_015694.2 NP_056509.2 Q9ULD5 ZN777_HUMAN zinc finger protein 777 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1) 26 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) CCCTAACCTACCTGGATGGAG 0.527 NA C||| 1149 0.229433 0.1293 0.2147 5008 , , NA 19658 0.4633 NA 0.1163 False NA ,,, NA NA NA 2504 0.2505 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB033111 CCDS43675.1 7q36.1 2013-01-08 ENSG00000196453 ENSG00000196453 27153 Zinc fingers, C2H2-type, - 22213 protein-coding gene gene with protein product NA Standard NM_015694 NM_015694 NA Approved KIAA1285 uc003wfv.3 Q9ULD5 OTTHUMG00000158967 ENST00000247930.4:c.1340-57G>A chr7.hg19:g.149130080C>T NA Q8N2R2|Q8N659 hg19 CCDS43675.1 0.02 4.077933 CTAxCTG COVERED NOVEL ZNF777-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000352708.1 1 3.912492 KEEP 0 0 0 13 447 CC 0.994391 0.994391 0 - 11 60 385 0 0 26.753138 137 60 4981 183 ENST00000247930.4 0.074324 1 ZNF746 155061 __UNKNOWN__ __UNKNOWN__ 7 149170236 149170236 __UNKNOWN__ 3'UTR SNP C C T rs1046140 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:149170236C>T ENST00000458143.2 - 0 3447 ZNF746_ENST00000340622.3_3'UTR NM_001163474.1|NM_152557.4 NP_001156946.1|NP_689770.3 Q6NUN9 ZN746_HUMAN zinc finger protein 746 NA NA negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) CCCAGCCTCGCGAGCTGTGCC 0.557 NA C||| 879 0.175519 0.1354 0.1614 5008 , , NA 16498 0.1081 NA 0.2594 False NA ,,, NA NA NA 2504 0.2229 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK055975 CCDS5897.1, CCDS55180.1 7q36.1 2013-01-08 ENSG00000181220 ENSG00000181220 155061 Zinc fingers, C2H2-type, - 21948 protein-coding gene gene with protein product 613914 NA Standard NM_152557 NM_152557 NA Approved FLJ31413 uc010lpi.2 Q6NUN9 OTTHUMG00000158972 ENST00000458143.2:c.*1239G>A chr7.hg19:g.149170236C>T NA A8K6Z9|Q6ZRF9 hg19 CCDS55180.1 0.02 6.40986 TCGxGAG COVERED NOVEL ZNF746-201 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000352730.1 0 6.62077 KEEP 0 0 0 22 742 CC 0.999879 0.999879 0 - 22 60 796 0 0 61.979982 143 60 4956 210 ENST00000458143.2 0.133333 1 ZNF746 155061 __UNKNOWN__ __UNKNOWN__ 7 149184850 149184850 __UNKNOWN__ Intron SNP C C A rs6971236 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:149184850C>A ENST00000458143.2 - 4 791 ZNF746_ENST00000340622.3_Intron|ZNF746_ENST00000461958.2_3'UTR NM_001163474.1|NM_152557.4 NP_001156946.1|NP_689770.3 Q6NUN9 ZN746_HUMAN zinc finger protein 746 NA NA negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) aaatcttattcaagcacatag 0.318 NA C||| 996 0.198882 0.2103 0.1657 5008 , , NA 18384 0.1181 NA 0.2604 False NA ,,, NA NA NA 2504 0.227 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK055975 CCDS5897.1, CCDS55180.1 7q36.1 2013-01-08 ENSG00000181220 ENSG00000181220 155061 Zinc fingers, C2H2-type, - 21948 protein-coding gene gene with protein product 613914 NA Standard NM_152557 NM_152557 NA Approved FLJ31413 uc010lpi.2 Q6NUN9 OTTHUMG00000158972 ENST00000458143.2:c.520+5099G>T chr7.hg19:g.149184850C>A NA A8K6Z9|Q6ZRF9 hg19 CCDS55180.1 0.02 6.730979 ATTxAAG COVERED NOVEL ZNF746-201 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000352730.1 1 10.534421 KEEP 0 0 0 35 1237 CC 0.999999 0.999999 0 - 9 60 338 0 0 22.448681 177 60 6687 264 ENST00000458143.2 0.048387 1 ZNF746 155061 __UNKNOWN__ __UNKNOWN__ 7 149187738 149187738 __UNKNOWN__ Intron SNP G G T rs4727075 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:149187738G>T ENST00000458143.2 - 4 791 ZNF746_ENST00000340622.3_Intron|ZNF746_ENST00000461958.2_3'UTR NM_001163474.1|NM_152557.4 NP_001156946.1|NP_689770.3 Q6NUN9 ZN746_HUMAN zinc finger protein 746 NA NA negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) ggcggccagggagtggtgtgc 0.572 NA G||| 995 0.198682 0.2103 0.1657 5008 , , NA 20364 0.1171 NA 0.2604 False NA ,,, NA NA NA 2504 0.227 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK055975 CCDS5897.1, CCDS55180.1 7q36.1 2013-01-08 ENSG00000181220 ENSG00000181220 155061 Zinc fingers, C2H2-type, - 21948 protein-coding gene gene with protein product 613914 NA Standard NM_152557 NM_152557 NA Approved FLJ31413 uc010lpi.2 Q6NUN9 OTTHUMG00000158972 ENST00000458143.2:c.520+2211C>A chr7.hg19:g.149187738G>T NA A8K6Z9|Q6ZRF9 hg19 CCDS55180.1 0.02 8.483568 AGGxAGT COVERED NOVEL ZNF746-201 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000352730.1 0 11.135788 KEEP 0 0 0 37 1305 GG 1 1 0 - 19 60 658 0 0 47.075604 194 60 7325 324 ENST00000458143.2 0.089202 1 ZNF746 155061 __UNKNOWN__ __UNKNOWN__ 7 149188808 149188808 __UNKNOWN__ Intron SNP T T C rs58894762 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:149188808T>C ENST00000458143.2 - 4 791 ZNF746_ENST00000340622.3_Intron|ZNF746_ENST00000461958.2_3'UTR NM_001163474.1|NM_152557.4 NP_001156946.1|NP_689770.3 Q6NUN9 ZN746_HUMAN zinc finger protein 746 NA NA negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) GGAGGGCCTCTGCGGACCACC 0.542 NA T||| 1041 0.207867 0.2496 0.1671 5008 , , NA 19752 0.1111 NA 0.2594 False NA ,,, NA NA NA 2504 0.227 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK055975 CCDS5897.1, CCDS55180.1 7q36.1 2013-01-08 ENSG00000181220 ENSG00000181220 155061 Zinc fingers, C2H2-type, - 21948 protein-coding gene gene with protein product 613914 NA Standard NM_152557 NM_152557 NA Approved FLJ31413 uc010lpi.2 Q6NUN9 OTTHUMG00000158972 ENST00000458143.2:c.520+1141A>G chr7.hg19:g.149188808T>C NA A8K6Z9|Q6ZRF9 hg19 CCDS55180.1 0.02 21.66787 CTCxGCG COVERED NOVEL ZNF746-201 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000352730.1 0 31.286725 KEEP 2 0 0 104 3227 TT 1 1 0 - 37 60 1274 0 0 87.690151 466 60 16986 733 ENST00000458143.2 0.073559 1 KRBA1 84626 __UNKNOWN__ __UNKNOWN__ 7 149430367 149430367 __UNKNOWN__ Missense_Mutation SNP C C T rs73725583 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:149430367C>T ENST00000485033.2 + 15 2141 c.2141C>T c.(2140-2142)cCc>cTc p.P714L KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000319551.8_Missense_Mutation_p.P714L|KRBA1_ENST00000255992.10_Missense_Mutation_p.P774L A5PL33 KRBA1_HUMAN KRAB-A domain containing 1 775 Pro-rich. NA breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1) 27 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CCGGAGCTGCCCCCTCCGGAA 0.677 NA C||| 391 0.0780751 0.0983 0.0548 5008 , , NA 14874 0.119 NA 0.0765 False NA ,,, NA NA NA 2504 0.0266 NA NA NA NA 0 C LEU/PRO 302,3562 10,282,1640 40 48 45 2323 1.9 0 7 dbSNP_130 45 415,7789 11,393,3698 no missense KRBA1 NM_032534.2 98 21,675,5338 TT,TC,CC 5.0585,7.8157,5.9413 probably-damaging 775/1031 149430367 717,11351 1932 4102 6034 SO:0001583 missense AB058765 CCDS75674.1 7q36 2014-02-12 2006-08-15 ENSG00000133619 ENSG00000133619 84626 - 22228 protein-coding gene gene with protein product KRAB A domain containing 1 NA Standard NM_032534 NM_001290187 NA Approved KIAA1862 uc003wfz.3 A5PL33 OTTHUMG00000157886 ENST00000485033.2:c.2141C>T chr7.hg19:g.149430367C>T ENSP00000420112:p.Pro714Leu NA A7E2F5|E7ENE9|Q8N4X0|Q96JG5 hg19 0.02 6.721784 TGCxCCC COVERED 173 0.07921245421245421 50 0.1016260162601626 20 0.055248618784530384 49 0.08566433566433566 54 0.0712401055408971 C 11.77 1.737211 0.30774 0.078157 0.050585 ENSG00000133619 ENST00000255992;ENST00000319551;ENST00000485033 T;T;T 0.33438 1.42;1.41;1.41 4.81 1.92 0.25849 . . . . . T 0.00496 0.0016 . . . 0.80722 P 0.0 B;B 0.20052 0.041;0.041 B;B 0.23419 0.046;0.027 T 0.18713 -1.0328 7 0.27082 T 0.32 -1.8789 6.7655 0.23564 0.0:0.6823:0.0:0.3177 . 714;775 E7ENE9;A5PL33 .;KRBA1_HUMAN L 774;714;714 ENSP00000255992:P774L;ENSP00000317165:P714L;ENSP00000420112:P714L ENSP00000255992:P774L P + 2 0 KRBA1 149061300 0.000000 0.05858 0.000000 0.03702 0.084000 0.17831 0.109000 0.15417 0.098000 0.17522 0.563000 0.77884 CCC NOVEL KRBA1-004 PUTATIVE basic protein_coding NA protein_coding OTTHUMT00000349841.3 1 9.615802 KEEP 0 0 0 32 1118 CC 0.999997 0.999997 0 + 14 60 476 0 0 33.993978 139 60 5054 227 ENST00000485033.2 0.091503 1 SSPO 23145 __UNKNOWN__ __UNKNOWN__ 7 149502637 149502637 __UNKNOWN__ RNA SNP C C T rs375487670 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:149502637C>T ENST00000378016.2 + 0 8450 A2VEC9 SSPO_HUMAN SCO-spondin NA NA cell adhesion (GO:0007155) extracellular space (GO:0005615) peptidase inhibitor activity (GO:0030414) NA Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GGAGATGCCACCCAGGAGGAG 0.667 NA C||| 8 0.00159744 0.0 0.0 5008 , , NA 15780 0.0069 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 34 42 39 NA NA 7 NA 149502637 1893 4101 5994 AK093431 7q36.1 2013-08-07 2013-08-06 ENSG00000197558 ENSG00000197558 23145 21998 protein-coding gene gene with protein product subcommissural organ spondin, SCO protein, thrombospondin domain containing SCO-spondin homolog (Bos taurus) NA 8743952, 11008217 Standard NM_198455 NA Approved SCO-spondin, KIAA0543, FLJ36112 uc010lpk.3 A2VEC9 OTTHUMG00000157884 ENST00000378016.2: chr7.hg19:g.149502637C>T NA Q76B61 hg19 0.02 6.553414 CCAxCCA COVERED NOVEL SSPO-202 KNOWN basic processed_transcript NA processed_transcript 0 9.631387 KEEP 0 0 0 32 1135 CC 0.999997 0.999997 0 + 11 60 384 0 0 25.28985 184 60 6762 275 ENST00000378016.2 0.05641 1 SSPO 23145 __UNKNOWN__ __UNKNOWN__ 7 149508106 149508106 __UNKNOWN__ RNA SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:149508106C>T ENST00000378016.2 + 0 9491 A2VEC9 SSPO_HUMAN SCO-spondin NA NA cell adhesion (GO:0007155) extracellular space (GO:0005615) peptidase inhibitor activity (GO:0030414) NA Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) TGGTGAGACACCGCCCCCATC 0.627 NA NA NA NA NA NA NA NA NA NA NA 0 44 50 48 NA NA 7 NA 149508106 2021 4160 6181 AK093431 7q36.1 2013-08-07 2013-08-06 ENSG00000197558 ENSG00000197558 23145 21998 protein-coding gene gene with protein product subcommissural organ spondin, SCO protein, thrombospondin domain containing SCO-spondin homolog (Bos taurus) NA 8743952, 11008217 Standard NM_198455 NA Approved SCO-spondin, KIAA0543, FLJ36112 uc010lpk.3 A2VEC9 OTTHUMG00000157884 ENST00000378016.2: chr7.hg19:g.149508106C>T NA Q76B61 hg19 0.02 4.072832 ACAxCGC COVERED NOVEL SSPO-202 KNOWN basic processed_transcript NA processed_transcript 3 4.514728 KEEP 0 0 0 15 531 CC 0.99649 0.99649 0 + 8 60 285 0 0 19.417378 117 60 4165 154 ENST00000378016.2 0.064 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 149943410 149943410 __UNKNOWN__ IGR SNP C C T rs62502640 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:149943410C>T NA NA RP11-545G3.1 (171945 upstream) : ACTR3C (891 downstream) NA NA NA TGTTCCTAGCCATGGAGGACC 0.478 NA C||| 100 0.0199681 0.0045 0.0346 5008 , , NA 17995 0.0 NA 0.0567 False NA ,,, NA NA NA 2504 0.0133 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.149943410C>T NA hg19 0.02 7.658333 AGCxATG COVERED NOVEL 0 0 2.407314 KEEP 0 0 0 8 258 CC 0.99257 0.99257 0 79 60 2861 0 0 275.625098 81 60 2927 171 0.49375 1 ACTR3C 653857 __UNKNOWN__ __UNKNOWN__ 7 149990535 149990535 __UNKNOWN__ Intron SNP G G A rs200595381 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:149990535G>A ENST00000539352.1 - 3 297 ACTR3C_ENST00000252071.4_Intron NM_001164458.1 NP_001157930.1 Q9C0K3 ARP3C_HUMAN ARP3 actin-related protein 3 homolog C (yeast) NA NA extracellular vesicular exosome (GO:0070062) ATP binding (GO:0005524) NA AAAACCGCTCGCACATAGGAA 0.463 NA G||| 654 0.130591 0.2451 0.0519 5008 , , NA 17905 0.0645 NA 0.0437 False NA ,,, NA NA NA 2504 0.1892 NA NA NA NA 0 31 31 31 NA NA 7 NA 149990535 683 1578 2261 SO:0001627 intron_variant CCDS47744.1 7q36.1 2009-09-23 ENSG00000106526 ENSG00000106526 653857 37282 protein-coding gene gene with protein product NA 11162478, 14651955 Standard NM_001164458 NA Approved ARP11 uc022aps.1 Q9C0K3 OTTHUMG00000158323 ENST00000539352.1:c.46-27C>T chr7.hg19:g.149990535G>A NA Q5CZI4 hg19 CCDS47744.1 0.02 7.98487 CTCxCAC COVERED NOVEL ACTR3C-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000350676.2 2 12.641287 KEEP 77 0 0 42 1495 GG 0.999997 0.999997 0 - 8 40 276 0 0 16.618298 205 50 7615 394 ENST00000539352.1 0.037559 1 REPIN1 29803 __UNKNOWN__ __UNKNOWN__ 7 150070446 150070446 __UNKNOWN__ 3'UTR SNP G G C rs3192130 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:150070446G>C ENST00000425389.2 + 0 2194 REPIN1_ENST00000397281.2_3'UTR|REPIN1_ENST00000444957.1_3'UTR|REPIN1_ENST00000479668.1_3'UTR NM_014374.3 NP_055189.2 Q9BWE0 REPI1_HUMAN replication initiator 1 NA NA DNA replication (GO:0006260)|regulation of fatty acid transport (GO:2000191)|regulation of glucose import in response to insulin stimulus (GO:2001273) cytosolic ribosome (GO:0022626)|lipid particle (GO:0005811)|nuclear membrane (GO:0031965)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822) cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 14 Ovarian(565;0.183)|Melanoma(164;0.226) OV - Ovarian serous cystadenocarcinoma(82;0.011) AAGCAGGCGTGGTAGAGTCCT 0.483 NA G||| 170 0.0339457 0.0416 0.0144 5008 , , NA 20315 0.0169 NA 0.0229 False NA ,,, NA NA NA 2504 0.0665 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF201303 CCDS43677.1, CCDS47745.1 7q36.1 2013-01-08 2003-08-07 2003-08-08 29803 Zinc fingers, C2H2-type 17922 protein-coding gene gene with protein product replication initiation region protein (60kD), zinc finger protein AP4, zinc finger protein 464 (RIP60) zinc finger protein 464 (RIP60) ZNF464 NA 10606657 Standard NM_014374 NM_013400 NA Approved RIP60, AP4, H_DJ0584D14.12, Zfp464 uc010lpr.1 Q9BWE0 ENST00000425389.2:c.*412G>C chr7.hg19:g.150070446G>C NA C9J3L7|D3DWZ1|Q7LE03|Q9BUZ6|Q9NZH2|Q9UMP5 hg19 CCDS43677.1 0.02 8.343466 CGTxGTA COVERED NOVEL REPIN1-018 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000376940.1 0 17.13951 KEEP 0 0 0 57 1947 GG 1 1 0 + 9 60 311 0 0 18.943946 219 60 8010 332 ENST00000425389.2 0.039474 1 GIMAP8 155038 __UNKNOWN__ __UNKNOWN__ 7 150163837 150163837 __UNKNOWN__ Silent SNP A A G rs2140595 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:150163837A>G ENST00000307271.3 + 2 625 c.51A>G c.(49-51)ggA>ggG p.G17G NM_175571.2 NP_783161.1 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 17 AIG1-type G 1. NA cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634) GTP binding (GO:0005525) breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) TCCTCCTGGGAAAATGCCGCT 0.512 NA G||| 1613 0.322085 0.3086 0.2334 5008 , , NA 19150 0.4177 NA 0.3708 False NA ,,, NA NA NA 2504 0.2546 NA NA NA NA 0 G 1393,3013 226,941,1036 58 60 59 51 -1.1 0.4 7 dbSNP_96 59 2989,5611 551,1887,1862 no coding-synonymous GIMAP8 NM_175571.2 777,2828,2898 GG,GA,AA 34.7558,31.616,33.6921 17/666 150163837 4382,8624 2203 4300 6503 SO:0001819 synonymous_variant AL834361 CCDS34777.1 7q36.1 2014-04-04 ENSG00000171115 ENSG00000171115 155038 GTPases, IMAP 21792 protein-coding gene gene with protein product immune-associated nucleotide-binding protein 9 NA 15474311 Standard NM_175571 XM_005249951 NA Approved DKFZp667I133, hIAN6, IAN9 uc003whj.3 Q8ND71 OTTHUMG00000158327 ENST00000307271.3:c.51A>G chr7.hg19:g.150163837A>G NA hg19 CCDS34777.1 0.02 14.456054 GGGxAAA COVERED NOVEL GIMAP8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000350701.1 3 7.52246 KEEP 0 0 0 25 780 AA 0.999931 0.999931 0 + 31 60 1178 0 0 88.075217 296 60 10638 399 ENST00000307271.3 0.094801 1 GIMAP8 155038 __UNKNOWN__ __UNKNOWN__ 7 150171710 150171710 __UNKNOWN__ Silent SNP T T C rs60114833 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:150171710T>C ENST00000307271.3 + 4 1867 c.1293T>C c.(1291-1293)tgT>tgC p.C431C NM_175571.2 NP_783161.1 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 431 AIG1-type G 2. NA cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634) GTP binding (GO:0005525) breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) ACAAGCATTGTGTTTTCAGAG 0.343 NA T||| 1301 0.259784 0.1097 0.2233 5008 , , NA 15551 0.4187 NA 0.3698 False NA ,,, NA NA NA 2504 0.2117 NA NA NA NA 0 T 697,3709 291.3+/-281.4 59,579,1565 67 71 70 1293 -3.3 0 7 dbSNP_129 70 3020,5580 463.4+/-366.0 550,1920,1830 no coding-synonymous GIMAP8 NM_175571.2 609,2499,3395 CC,CT,TT 35.1163,15.8193,28.5791 431/666 150171710 3717,9289 2203 4300 6503 SO:0001819 synonymous_variant AL834361 CCDS34777.1 7q36.1 2014-04-04 ENSG00000171115 ENSG00000171115 155038 GTPases, IMAP 21792 protein-coding gene gene with protein product immune-associated nucleotide-binding protein 9 NA 15474311 Standard NM_175571 XM_005249951 NA Approved DKFZp667I133, hIAN6, IAN9 uc003whj.3 Q8ND71 OTTHUMG00000158327 ENST00000307271.3:c.1293T>C chr7.hg19:g.150171710T>C NA hg19 CCDS34777.1 0.02 7.300533 TTGxGTT COVERED NOVEL GIMAP8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000350701.1 0 7.255658 KEEP 0 1 22 32 1031 TT 0.999998 0.999998 0 + 19 60 654 0 0 48.217864 159 60 5858 256 ENST00000307271.3 0.106742 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 150209733 150209733 __UNKNOWN__ IGR SNP G G C rs111350935 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:150209733G>C NA NA GIMAP8 (33253 upstream) : GIMAP7 (2184 downstream) NA NA NA GATATTGATGGCTTGTTATAA 0.433 NA G||| 1171 0.233826 0.0961 0.2767 5008 , , NA 21238 0.2411 NA 0.3718 False NA ,,, NA NA NA 2504 0.2403 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.150209733G>C NA hg19 0.02 11.565476 ATGxCTT COVERED NOVEL 0 2 6.15639 KEEP 0 1 36 33 1183 GG 0.999998 0.999998 0 17 60 622 0 0 42.434563 265 60 9840 379 0.060284 1 GIMAP7 168537 __UNKNOWN__ __UNKNOWN__ 7 150217335 150217335 __UNKNOWN__ Silent SNP G G T rs3735079 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:150217335G>T ENST00000313543.4 + 2 430 c.273G>T c.(271-273)ggG>ggT p.G91G NM_153236.3 NP_694968.1 Q8NHV1 GIMA7_HUMAN GTPase, IMAP family member 7 91 AIG1-type G. NA GTP catabolic process (GO:0006184) cytoplasm (GO:0005737)|lipid particle (GO:0005811) GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803) breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 17 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CCTGCCCAGGGCCCCATGCTA 0.547 NA G||| 549 0.109625 0.0416 0.1138 5008 , , NA 19563 0.1855 NA 0.1272 False NA ,,, NA NA NA 2504 0.1022 NA NA NA NA 0 G 215,4191 130.6+/-167.2 2,211,1990 47 48 48 273 -6 0.8 7 dbSNP_107 48 1111,7489 231.2+/-265.3 78,955,3267 no coding-synonymous GIMAP7 NM_153236.3 80,1166,5257 TT,TG,GG 12.9186,4.8797,10.1953 91/301 150217335 1326,11680 2203 4300 6503 SO:0001819 synonymous_variant BC027613 CCDS5903.1 7q36.1 2014-04-04 ENSG00000179144 ENSG00000179144 168537 GTPases, IMAP 22404 protein-coding gene gene with protein product immune-associated nucleotide-binding protein 7 NA 15474311 Standard NM_153236 NM_153236 NA Approved MGC27027, IAN7 uc003whk.3 Q8NHV1 OTTHUMG00000157626 ENST00000313543.4:c.273G>T chr7.hg19:g.150217335G>T NA hg19 CCDS5903.1 0.02 9.957339 AGGxCCC COVERED NOVEL GIMAP7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000349277.1 2 8.126379 KEEP 0 0 0 27 956 GG 0.999997 0.999997 0 + 10 60 329 0 0 19.114292 261 60 9629 369 ENST00000313543.4 0.0369 1 GIMAP4 55303 __UNKNOWN__ __UNKNOWN__ 7 150269542 150269542 __UNKNOWN__ Missense_Mutation SNP G G T rs2293172 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:150269542G>T ENST00000255945.2 + 3 559 c.384G>T c.(382-384)gaG>gaT p.E128D GIMAP4_ENST00000461940.1_Missense_Mutation_p.E142D|GIMAP4_ENST00000494750.1_3'UTR NM_018326.2 NP_060796.1 Q9NUV9 GIMA4_HUMAN GTPase, IMAP family member 4 128 AIG1-type G. NA E -> D (in dbSNP:rs2293172). cytosol (GO:0005829) GTP binding (GO:0005525) breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(82;0.0179) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GTTACACTGAGGAAGAGCACA 0.488 NA G||| 685 0.136781 0.0734 0.1412 5008 , , NA 20430 0.2173 NA 0.1561 False NA ,,, NA NA NA 2504 0.1166 NA NA NA NA 0 G ASP/GLU 348,4058 179.4+/-207.9 14,320,1869 81 78 79 384 2.9 0.8 7 dbSNP_100 79 1353,7247 265.7+/-286.3 109,1135,3056 yes missense GIMAP4 NM_018326.2 45 123,1455,4925 TT,TG,GG 15.7326,7.8983,13.0786 benign 128/330 150269542 1701,11305 2203 4300 6503 SO:0001583 missense AK001972 CCDS5904.1 7q36.1 2014-04-04 ENSG00000133574 ENSG00000133574 55303 GTPases, IMAP 21872 protein-coding gene gene with protein product immune-associated nucleotide-binding protein 1 608087 NA 15474311, 18701445 Standard NM_018326 NM_018326 NA Approved HIMAP4, FLJ11110, IMAP4, IAN1 uc003whl.3 Q9NUV9 OTTHUMG00000157475 ENST00000255945.2:c.384G>T chr7.hg19:g.150269542G>T ENSP00000255945:p.Glu128Asp NA hg19 CCDS5904.1 0.02 17.281272 TGAxGAA COVERED 338 0.15476190476190477 30 0.06097560975609756 60 0.16574585635359115 120 0.2097902097902098 128 0.16886543535620052 G 4.023 0.001695 0.07819 0.078983 0.157326 ENSG00000133574 ENST00000255945;ENST00000461940;ENST00000479232 T;T;T 0.62498 0.02;0.02;0.02 4.72 2.86 0.33363 AIG1 (1); 2.302990 0.01535 N 0.018966 T 0.00039 0.0001 N 0.21097 0.63 0.58432 P 1.0000000000287557E-6 B;B 0.19817 0.039;0.008 B;B 0.17979 0.014;0.02 T 0.03025 -1.1081 9 0.29301 T 0.29 . 7.4594 0.27285 0.203:0.0:0.797:0.0 rs2293172;rs11539192;rs52811237;rs57984509;rs2293172 142;128 G5E9W9;Q9NUV9 .;GIMA4_HUMAN D 128;142;142 ENSP00000255945:E128D;ENSP00000419545:E142D;ENSP00000418615:E142D ENSP00000255945:E128D E + 3 2 GIMAP4 149900475 0.000000 0.05858 0.821000 0.32701 0.011000 0.07611 -0.964000 0.03833 1.226000 0.43582 0.655000 0.94253 GAG NOVEL GIMAP4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000348927.1 1 15.384579 KEEP 0 1 19 58 2087 GG 1 1 0 + 18 60 634 0 0 39.964219 395 60 14667 523 ENST00000255945.2 0.043584 1 GIMAP6 474344 __UNKNOWN__ __UNKNOWN__ 7 150324157 150324157 __UNKNOWN__ 3'UTR SNP G G A rs11762727 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:150324157G>A ENST00000328902.5 - 0 1745 NM_001244072.1|NM_024711.5 NP_001231001.1|NP_078987.3 Q6P9H5 GIMA6_HUMAN GTPase, IMAP family member 6 NA NA cytosol (GO:0005829) GTP binding (GO:0005525) endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TTCCCACTAGGAAGTTCCAAC 0.542 NA G||| 591 0.118011 0.0242 0.1326 5008 , , NA 19320 0.2083 NA 0.1481 False NA ,,, NA NA NA 2504 0.1104 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK026343 CCDS34778.1, CCDS59087.1, CCDS75676.1 7q36.1 2014-04-04 ENSG00000133561 ENSG00000133561 474344 GTPases, IMAP 21918 protein-coding gene gene with protein product immune-associated nucleotide-binding protein 6 NA 15474311 Standard NM_024711 NM_001244072 NA Approved FLJ22690, IAN6 uc022apv.1 Q6P9H5 OTTHUMG00000159137 ENST00000328902.5:c.*650C>T chr7.hg19:g.150324157G>A NA C9J7B6|D3DWZ4|Q5ZPR6|Q9H612 hg19 CCDS34778.1 0.02 6.24408 TAGxAAG COVERED NOVEL GIMAP6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000353457.1 1 11.738143 KEEP 0 0 0 39 1368 GG 1 1 0 - 6 60 222 0 0 13.418357 190 60 6984 276 ENST00000328902.5 0.030612 1 GIMAP2 26157 __UNKNOWN__ __UNKNOWN__ 7 150389593 150389593 __UNKNOWN__ Silent SNP T T C rs1860871 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:150389593T>C ENST00000223293.5 + 3 313 c.219T>C c.(217-219)atT>atC p.I73I NM_015660.2 NP_056475.1 Q9UG22 GIMA2_HUMAN GTPase, IMAP family member 2 73 AIG1-type G. NA cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811) GTP binding (GO:0005525) kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) ATAGAGAGATTGTCATTATTG 0.483 NA T||| 496 0.0990415 0.0348 0.0821 5008 , , NA 21860 0.2163 NA 0.0865 False NA ,,, NA NA NA 2504 0.09 NA NA NA NA 0 T 190,4216 120.0+/-157.7 8,174,2021 92 86 88 219 1.8 0 7 dbSNP_92 88 766,7834 182.6+/-231.0 42,682,3576 no coding-synonymous GIMAP2 NM_015660.2 50,856,5597 CC,CT,TT 8.907,4.3123,7.3505 73/338 150389593 956,12050 2203 4300 6503 SO:0001819 synonymous_variant AL110151 CCDS5905.1 7q36.1 2014-04-04 ENSG00000106560 ENSG00000106560 26157 GTPases, IMAP 21789 protein-coding gene gene with protein product immune-associated nucleotide-binding protein 12 608085 NA 15474311 Standard NM_015660 NM_015660 NA Approved DKFZp586D0824, HIMAP2, IMAP2, IAN12 uc003who.3 Q9UG22 OTTHUMG00000157488 ENST00000223293.5:c.219T>C chr7.hg19:g.150389593T>C NA Q96L25 hg19 CCDS5905.1 0.02 8.745764 GATxGTC COVERED NOVEL GIMAP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000348948.1 2 8.425537 KEEP 0 0 0 28 887 TT 0.999997 0.999997 0 + 10 60 364 0 0 23.127061 230 60 8361 316 ENST00000223293.5 0.041667 1 GIMAP2 26157 __UNKNOWN__ __UNKNOWN__ 7 150389856 150389856 __UNKNOWN__ Missense_Mutation SNP A A G rs2075078 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:150389856A>G ENST00000223293.5 + 3 576 c.482A>G c.(481-483)cAc>cGc p.H161R NM_015660.2 NP_056475.1 Q9UG22 GIMA2_HUMAN GTPase, IMAP family member 2 161 AIG1-type G. NA H -> R (in dbSNP:rs2075078). cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811) GTP binding (GO:0005525) kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GATTACATGCACGACTCAGAT 0.502 NA G||| 1383 0.276158 0.441 0.1888 5008 , , NA 21862 0.2431 NA 0.1968 False NA ,,, NA NA NA 2504 0.2311 NA NA NA NA 0 G ARG/HIS 1675,2731 655.2+/-399.9 329,1017,857 89 66 74 482 -5.8 0 7 dbSNP_96 74 1707,6893 738.2+/-407.0 179,1349,2772 yes missense GIMAP2 NM_015660.2 29 508,2366,3629 GG,GA,AA 19.8488,38.0163,26.0034 benign 161/338 150389856 3382,9624 2203 4300 6503 SO:0001583 missense AL110151 CCDS5905.1 7q36.1 2014-04-04 ENSG00000106560 ENSG00000106560 26157 GTPases, IMAP 21789 protein-coding gene gene with protein product immune-associated nucleotide-binding protein 12 608085 NA 15474311 Standard NM_015660 NM_015660 NA Approved DKFZp586D0824, HIMAP2, IMAP2, IAN12 uc003who.3 Q9UG22 OTTHUMG00000157488 ENST00000223293.5:c.482A>G chr7.hg19:g.150389856A>G ENSP00000223293:p.His161Arg NA Q96L25 hg19 CCDS5905.1 0.02 14.670596 TGCxCGA COVERED 548 0.2509157509157509 187 0.3800813008130081 67 0.1850828729281768 133 0.23251748251748253 161 0.21240105540897097 G 3.917 -0.018824 0.07681 0.380163 0.198488 ENSG00000106560 ENST00000223293 T 0.04917 3.53 3.68 -5.76 0.02376 AIG1 (1); 2.358640 0.01635 N 0.023758 T 0.00012 0.0000 N 0.01631 -0.79 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.42666 -0.9438 9 0.02654 T 1 . 5.9694 0.19342 0.5414:0.0:0.3374:0.1212 rs2075078;rs61565028;rs2075078 161 Q9UG22 GIMA2_HUMAN R 161 ENSP00000223293:H161R ENSP00000223293:H161R H + 2 0 GIMAP2 150020789 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -5.344000 0.00130 -1.789000 0.01264 -0.855000 0.03028 CAC NOVEL GIMAP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000348948.1 1 10.83268 KEEP 0 0 0 36 1133 AA 0.999999 0.999999 0 + 12 60 430 0 0 25.74624 358 60 13013 450 ENST00000223293.5 0.032432 1 GIMAP1 170575 __UNKNOWN__ __UNKNOWN__ 7 150418045 150418045 __UNKNOWN__ 3'UTR SNP G G A rs2286900 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:150418045G>A ENST00000307194.5 + 0 1093 NM_130759.3 NP_570115.1 Q8WWP7 GIMA1_HUMAN GTPase, IMAP family member 1 NA NA B cell differentiation (GO:0030183)|T cell differentiation (GO:0030217) endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) GTP binding (GO:0005525) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 28 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AGGCAACTTGGTTAAGGGAGG 0.527 NA G||| 615 0.122804 0.118 0.0908 5008 , , NA 16750 0.2133 NA 0.0924 False NA ,,, NA NA NA 2504 0.09 NA NA NA NA 0 G , 385,3183 18,349,1417 10 11 11 , 1.4 0 7 dbSNP_100 11 576,6370 25,526,2922 no intron,utr-3 GIMAP1,GIMAP1-GIMAP5 NM_001199577.1,NM_130759.3 , 43,875,4339 AA,AG,GG 8.2925,10.7904,9.1402 , , 150418045 961,9553 1784 3473 5257 SO:0001624 3_prime_UTR_variant AJ306287 CCDS5906.1 7q36.1 2014-04-04 ENSG00000213203 ENSG00000213203 170575 GTPases, IMAP 23237 protein-coding gene gene with protein product immune-associated nucleotide-binding protein 2 608084 NA 15474311, 18701445 Standard NM_130759 NM_130759 NA Approved HIMAP1, IMAP38, IMAP1, IAN2 Q8WWP7 OTTHUMG00000157489 ENST00000307194.5:c.*32G>A chr7.hg19:g.150418045G>A NA B2RCI3|Q8NAZ0 hg19 CCDS5906.1 0.02 2.036479 TTGxTTA COVERED NOVEL GIMAP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000348951.2 2 4.213256 KEEP 0 0 0 14 476 GG 0.995343 0.995283 0 + 6 60 216 0 0 14.691593 91 60 3270 116 ENST00000307194.5 0.061856 0.99994 GIMAP1 170575 __UNKNOWN__ __UNKNOWN__ 7 150418445 150418445 __UNKNOWN__ 3'UTR SNP T T A rs7798682 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:150418445T>A ENST00000307194.5 + 0 1493 NM_130759.3 NP_570115.1 Q8WWP7 GIMA1_HUMAN GTPase, IMAP family member 1 NA NA B cell differentiation (GO:0030183)|T cell differentiation (GO:0030217) endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) GTP binding (GO:0005525) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 28 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TTAGCATCAATAAAAGAAATG 0.333 NA T||| 615 0.122804 0.1165 0.0908 5008 , , NA 18058 0.2143 NA 0.0934 False NA ,,, NA NA NA 2504 0.09 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ306287 CCDS5906.1 7q36.1 2014-04-04 ENSG00000213203 ENSG00000213203 170575 GTPases, IMAP 23237 protein-coding gene gene with protein product immune-associated nucleotide-binding protein 2 608084 NA 15474311, 18701445 Standard NM_130759 NM_130759 NA Approved HIMAP1, IMAP38, IMAP1, IAN2 Q8WWP7 OTTHUMG00000157489 ENST00000307194.5:c.*432T>A chr7.hg19:g.150418445T>A NA B2RCI3|Q8NAZ0 hg19 CCDS5906.1 0.02 4.042689 CAAxAAA COVERED NOVEL GIMAP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000348951.2 0 5.110706 KEEP 0 0 0 17 500 TT 0.999366 0.999365 0 + 6 60 217 0 0 14.270051 112 60 4007 163 ENST00000307194.5 0.050847 0.999998 GIMAP1 170575 __UNKNOWN__ __UNKNOWN__ 7 150420704 150420704 __UNKNOWN__ 3'UTR SNP A A G rs3735078 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:150420704A>G ENST00000307194.5 + 0 3752 NM_130759.3 NP_570115.1 Q8WWP7 GIMA1_HUMAN GTPase, IMAP family member 1 NA NA B cell differentiation (GO:0030183)|T cell differentiation (GO:0030217) endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) GTP binding (GO:0005525) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 28 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CCATAGCTCAAGGTTAGGCCT 0.398 NA A||| 689 0.13758 0.171 0.0951 5008 , , NA 19072 0.2143 NA 0.0924 False NA ,,, NA NA NA 2504 0.09 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ306287 CCDS5906.1 7q36.1 2014-04-04 ENSG00000213203 ENSG00000213203 170575 GTPases, IMAP 23237 protein-coding gene gene with protein product immune-associated nucleotide-binding protein 2 608084 NA 15474311, 18701445 Standard NM_130759 NM_130759 NA Approved HIMAP1, IMAP38, IMAP1, IAN2 Q8WWP7 OTTHUMG00000157489 ENST00000307194.5:c.*2691A>G chr7.hg19:g.150420704A>G NA B2RCI3|Q8NAZ0 hg19 CCDS5906.1 0.02 12.233274 TCAxGGT COVERED NOVEL GIMAP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000348951.2 1 12.03581 KEEP 0 0 0 40 1247 AA 1 1 0 + 15 60 570 0 0 38.906054 259 60 9630 385 ENST00000307194.5 0.054745 1 GIMAP1 170575 __UNKNOWN__ __UNKNOWN__ 7 150420920 150420920 __UNKNOWN__ 3'UTR SNP C C T rs3735077 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:150420920C>T ENST00000307194.5 + 0 3968 NM_130759.3 NP_570115.1 Q8WWP7 GIMA1_HUMAN GTPase, IMAP family member 1 NA NA B cell differentiation (GO:0030183)|T cell differentiation (GO:0030217) endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) GTP binding (GO:0005525) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 28 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CTCCTTTTATCTCTTGGAAGA 0.353 NA C||| 615 0.122804 0.1165 0.0908 5008 , , NA 18423 0.2143 NA 0.0924 False NA ,,, NA NA NA 2504 0.091 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ306287 CCDS5906.1 7q36.1 2014-04-04 ENSG00000213203 ENSG00000213203 170575 GTPases, IMAP 23237 protein-coding gene gene with protein product immune-associated nucleotide-binding protein 2 608084 NA 15474311, 18701445 Standard NM_130759 NM_130759 NA Approved HIMAP1, IMAP38, IMAP1, IAN2 Q8WWP7 OTTHUMG00000157489 ENST00000307194.5:c.*2907C>T chr7.hg19:g.150420920C>T NA B2RCI3|Q8NAZ0 hg19 CCDS5906.1 0.02 9.748823 TATxTCT COVERED NOVEL GIMAP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000348951.2 0 6.019887 KEEP 0 0 0 20 728 CC 0.999863 0.999863 0 + 13 60 448 0 0 28.329201 260 60 9735 345 ENST00000307194.5 0.047619 1 KCNH2 3757 __UNKNOWN__ __UNKNOWN__ 7 150644394 150644394 __UNKNOWN__ Intron SNP C C T rs3815459 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:150644394C>T ENST00000262186.5 - 13 3554 KCNH2_ENST00000392968.2_Intron|KCNH2_ENST00000330883.4_Intron NM_000238.3 NP_000229.1 Q12809 KCNH2_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 2 NA NA cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005) cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076) delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282) NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 42 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661) CGTGCCCCCCCACCCCACCTG 0.687 NA C||| 1931 0.385583 0.3404 0.3415 5008 , , NA 9425 0.6786 NA 0.2097 False NA ,,, NA NA NA 2504 0.3569 NA NA NA GBM(137;110 1844 13671 20123 45161) NA 0 C , 969,2801 152,665,1068 4 5 5 , -2.8 0 7 dbSNP_107 5 1234,6362 115,1004,2679 no intron,intron KCNH2 NM_000238.3,NM_172057.2 , 267,1669,3747 TT,TC,CC 16.2454,25.7029,19.3824 , , 150644394 2203,9163 1885 3798 5683 SO:0001627 intron_variant U04270 CCDS5910.1, CCDS5911.1 7q36.1 2014-09-17 ENSG00000055118 ENSG00000055118 3757 Potassium channels, Voltage-gated ion channels / Potassium channels 6251 protein-coding gene gene with protein product 152427 LQT2 NA 18616963, 7842012, 8159766, 16382104 Standard NM_000238 NM_000238 NA Approved Kv11.1, HERG, erg1 uc003wic.3 Q12809 OTTHUMG00000158341 ENST00000262186.5:c.3152+21G>A chr7.hg19:g.150644394C>T NA A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0 hg19 CCDS5910.1 0.02 -0.403539 CCCxACC COVERED NOVEL KCNH2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000350741.2 0 3.310815 KEEP 0 0 0 11 391 CC 0.993072 0.928018 0 - 3 60 98 0 0 6.423901 43 60 1545 69 ENST00000262186.5 0.065217 0.934492 KCNH2 3757 __UNKNOWN__ __UNKNOWN__ 7 150647969 150647969 __UNKNOWN__ Intron SNP C C T rs369388440|rs2072413 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:150647969C>T ENST00000262186.5 - 8 2547 KCNH2_ENST00000392968.2_Intron|KCNH2_ENST00000330883.4_Intron|KCNH2_ENST00000430723.3_Intron NM_000238.3 NP_000229.1 Q12809 KCNH2_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 2 NA NA cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005) cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076) delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282) NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 42 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661) CCCCACTCTTCCCAGCCTGCC 0.617 NA C||| 1371 0.273762 0.3828 0.2089 5008 , , NA 17315 0.1379 NA 0.2942 False NA ,,, NA NA NA 2504 0.2914 NA NA NA GBM(137;110 1844 13671 20123 45161) NA 0 C ,,, 1387,3019 258,871,1074 40 36 37 ,,, -2 0 7 dbSNP_96 37 1962,6638 300,1362,2638 no intron,intron,intron,intron KCNH2 NM_000238.3,NM_001204798.1,NM_172056.2,NM_172057.2 ,,, 558,2233,3712 TT,TC,CC 22.814,31.4798,25.7497 ,,, ,,, 150647969 3349,9657 2203 4300 6503 SO:0001627 intron_variant U04270 CCDS5910.1, CCDS5911.1 7q36.1 2014-09-17 ENSG00000055118 ENSG00000055118 3757 Potassium channels, Voltage-gated ion channels / Potassium channels 6251 protein-coding gene gene with protein product 152427 LQT2 NA 18616963, 7842012, 8159766, 16382104 Standard NM_000238 NM_000238 NA Approved Kv11.1, HERG, erg1 uc003wic.3 Q12809 OTTHUMG00000158341 ENST00000262186.5:c.2145+39G>A chr7.hg19:g.150647969C>T NA A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0 hg19 CCDS5910.1 0.02 2.11426 CTTxCCA COVERED NOVEL KCNH2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000350741.2 1 3.310604 KEEP 0 0 0 11 375 CC 0.993072 0.967218 0 - 5 60 181 0 0 13.252369 49 60 1810 70 ENST00000262186.5 0.092593 0.973965 KCNH2 3757 __UNKNOWN__ __UNKNOWN__ 7 150647970 150647970 __UNKNOWN__ Intron SNP C C G rs2072412|rs369388440 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:150647970C>G ENST00000262186.5 - 8 2547 KCNH2_ENST00000392968.2_Intron|KCNH2_ENST00000330883.4_Intron|KCNH2_ENST00000430723.3_Intron NM_000238.3 NP_000229.1 Q12809 KCNH2_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 2 NA NA cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005) cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076) delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282) NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 42 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661) CCCACTCTTCCCAGCCTGCCA 0.612 NA C||| 1371 0.273762 0.3828 0.2089 5008 , , NA 17331 0.1379 NA 0.2942 False NA ,,, NA NA NA 2504 0.2914 NA NA NA GBM(137;110 1844 13671 20123 45161) NA 0 C ,,, 1393,3013 258,877,1068 40 36 37 ,,, -2 0 7 dbSNP_96 37 1999,6601 300,1399,2601 no intron,intron,intron,intron KCNH2 NM_000238.3,NM_001204798.1,NM_172056.2,NM_172057.2 ,,, 558,2276,3669 GG,GC,CC 23.2442,31.616,26.0803 ,,, ,,, 150647970 3392,9614 2203 4300 6503 SO:0001627 intron_variant U04270 CCDS5910.1, CCDS5911.1 7q36.1 2014-09-17 ENSG00000055118 ENSG00000055118 3757 Potassium channels, Voltage-gated ion channels / Potassium channels 6251 protein-coding gene gene with protein product 152427 LQT2 NA 18616963, 7842012, 8159766, 16382104 Standard NM_000238 NM_000238 NA Approved Kv11.1, HERG, erg1 uc003wic.3 Q12809 OTTHUMG00000158341 ENST00000262186.5:c.2145+38G>C chr7.hg19:g.150647970C>G NA A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0 hg19 CCDS5910.1 0.02 2.41371 TTCxCAG COVERED NOVEL KCNH2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000350741.2 1 3.310593 KEEP 0 0 0 11 375 CC 0.993072 0.967218 0 - 5 60 183 0 0 13.453492 49 60 1793 70 ENST00000262186.5 0.092593 0.973965 KCNH2 3757 __UNKNOWN__ __UNKNOWN__ 7 150648986 150648986 __UNKNOWN__ Intron SNP G G C rs2072411 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:150648986G>C ENST00000262186.5 - 7 1959 KCNH2_ENST00000392968.2_Intron|KCNH2_ENST00000330883.4_Intron|KCNH2_ENST00000430723.3_Intron NM_000238.3 NP_000229.1 Q12809 KCNH2_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 2 NA NA cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005) cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076) delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282) NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 42 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661) AGGAGGGGAGGTGCTGCGGCC 0.642 NA G||| 2162 0.431709 0.2882 0.4438 5008 , , NA 16153 0.6766 NA 0.339 False NA ,,, NA NA NA 2504 0.4601 NA NA NA GBM(137;110 1844 13671 20123 45161) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U04270 CCDS5910.1, CCDS5911.1 7q36.1 2014-09-17 ENSG00000055118 ENSG00000055118 3757 Potassium channels, Voltage-gated ion channels / Potassium channels 6251 protein-coding gene gene with protein product 152427 LQT2 NA 18616963, 7842012, 8159766, 16382104 Standard NM_000238 NM_000238 NA Approved Kv11.1, HERG, erg1 uc003wic.3 Q12809 OTTHUMG00000158341 ENST00000262186.5:c.1558-63C>G chr7.hg19:g.150648986G>C NA A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0 hg19 CCDS5910.1 0.02 2.455706 GAGxTGC COVERED NOVEL KCNH2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000350741.2 1 5.116798 KEEP 0 0 0 17 609 GG 0.999366 0.996921 0 - 9 60 348 0 0 27.314756 63 60 2296 102 ENST00000262186.5 0.125 0.997553 KCNH2 3757 __UNKNOWN__ __UNKNOWN__ 7 150649531 150649531 __UNKNOWN__ Silent SNP G G A rs1805120 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:150649531G>A ENST00000262186.5 - 6 1940 c.1539C>T c.(1537-1539)ttC>ttT p.F513F KCNH2_ENST00000392968.2_Silent_p.F417F|KCNH2_ENST00000330883.4_Silent_p.F173F|KCNH2_ENST00000430723.3_Silent_p.F513F NM_000238.3 NP_000229.1 Q12809 KCNH2_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 2 513 NA cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005) cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076) delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282) NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 42 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661) AGCCAGAGCCGAAGATGAGCA 0.647 NA G||| 1711 0.341653 0.2511 0.3357 5008 , , NA 18979 0.622 NA 0.2127 False NA ,,, NA NA NA 2504 0.3119 NA NA NA GBM(137;110 1844 13671 20123 45161) NA 0 G ,,, 1110,3296 395.6+/-329.7 146,818,1239 67 58 61 1539,519,1539,519 -9.4 0.8 7 dbSNP_89 61 1834,6766 328.4+/-318.3 202,1430,2668 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous KCNH2 NM_000238.3,NM_001204798.1,NM_172056.2,NM_172057.2 ,,, 348,2248,3907 AA,AG,GG 21.3256,25.1929,22.6357 ,,, 513/1160,173/549,513/889,173/820 150649531 2944,10062 2203 4300 6503 SO:0001819 synonymous_variant U04270 CCDS5910.1, CCDS5911.1 7q36.1 2014-09-17 ENSG00000055118 ENSG00000055118 3757 Potassium channels, Voltage-gated ion channels / Potassium channels 6251 protein-coding gene gene with protein product 152427 LQT2 NA 18616963, 7842012, 8159766, 16382104 Standard NM_000238 NM_000238 NA Approved Kv11.1, HERG, erg1 uc003wic.3 Q12809 OTTHUMG00000158341 ENST00000262186.5:c.1539C>T chr7.hg19:g.150649531G>A NA A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0 hg19 CCDS5910.1 0.02 11.226497 GCCxAAG COVERED NOVEL KCNH2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000350741.2 2 17.45419 KEEP 0 0 0 58 1941 GG 1 1 0 - 11 60 418 0 0 26.997866 264 60 8686 379 ENST00000262186.5 0.04 1 KCNH2 3757 __UNKNOWN__ __UNKNOWN__ 7 150649603 150649603 __UNKNOWN__ Silent SNP G G A rs740952 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:150649603G>A ENST00000262186.5 - 6 1868 c.1467C>T c.(1465-1467)atC>atT p.I489I KCNH2_ENST00000392968.2_Silent_p.I393I|KCNH2_ENST00000330883.4_Silent_p.I149I|KCNH2_ENST00000430723.3_Silent_p.I489I NM_000238.3 NP_000229.1 Q12809 KCNH2_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 2 489 NA cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005) cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076) delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282) NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 42 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661) AGTGGACGGCGATGCGGCCGG 0.592 NA G||| 1716 0.342652 0.2632 0.3372 5008 , , NA 19711 0.6131 NA 0.2127 False NA ,,, NA NA NA 2504 0.3088 NA NA NA GBM(137;110 1844 13671 20123 45161) NA 0 G ,,, 1158,3248 409.1+/-334.9 154,850,1199 129 112 118 1467,447,1467,447 -1.3 1 7 dbSNP_86 118 1836,6764 329.6+/-318.8 201,1434,2665 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous KCNH2 NM_000238.3,NM_001204798.1,NM_172056.2,NM_172057.2 ,,, 355,2284,3864 AA,AG,GG 21.3488,26.2823,23.0201 ,,, 489/1160,149/549,489/889,149/820 150649603 2994,10012 2203 4300 6503 SO:0001819 synonymous_variant U04270 CCDS5910.1, CCDS5911.1 7q36.1 2014-09-17 ENSG00000055118 ENSG00000055118 3757 Potassium channels, Voltage-gated ion channels / Potassium channels 6251 protein-coding gene gene with protein product 152427 LQT2 NA 18616963, 7842012, 8159766, 16382104 Standard NM_000238 NM_000238 NA Approved Kv11.1, HERG, erg1 uc003wic.3 Q12809 OTTHUMG00000158341 ENST00000262186.5:c.1467C>T chr7.hg19:g.150649603G>A NA A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0 hg19 CCDS5910.1 0.02 21.618278 GGCxATG COVERED NOVEL KCNH2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000350741.2 3 33.239083 KEEP 0 1 30 121 4126 GG 1 1 0 - 29 60 1046 0 0 69.893811 490 60 16992 832 ENST00000262186.5 0.055877 1 NOS3 4846 __UNKNOWN__ __UNKNOWN__ 7 150692444 150692444 __UNKNOWN__ Intron SNP G G A rs1800781 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:150692444G>A ENST00000484524.1 + 2 270 NOS3_ENST00000467517.1_Intron|NOS3_ENST00000461406.1_Intron|NOS3_ENST00000297494.3_Intron NM_001160111.1 NP_001153583.1 P60323 NANO3_HUMAN nitric oxide synthase 3 (endothelial cell) NA NA germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283) cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471) RNA binding (GO:0003723)|zinc ion binding (GO:0008270) NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CCAGGGAAAGGGTGGGTAAGG 0.592 NA G||| 543 0.108427 0.0076 0.0922 5008 , , NA 12358 0.123 NA 0.16 False NA ,,, NA NA NA 2504 0.1881 NA NA NA NA 0 G ,,, 121,4249 4,113,2068 20 22 21 ,,, 1.6 0 7 dbSNP_89 21 1226,7344 86,1054,3145 no intron,intron,intron,intron NOS3 NM_000603.4,NM_001160109.1,NM_001160110.1,NM_001160111.1 ,,, 90,1167,5213 AA,AG,GG 14.3057,2.7689,10.4096 ,,, ,,, 150692444 1347,11593 2185 4285 6470 SO:0001627 intron_variant CCDS5912.1, CCDS55182.1, CCDS55183.1 7q36 2007-02-15 ENSG00000164867 ENSG00000164867 4846 1.14.13.39 7876 protein-coding gene gene with protein product endothelial nitric oxide synthase 163729 NA 1379542 Standard NM_000603 NM_000603 NA Approved ECNOS, eNOS uc003wif.3 P29474 OTTHUMG00000158343 ENST00000484524.1:c.270+42G>A chr7.hg19:g.150692444G>A NA Q495E5 hg19 CCDS55182.1 0.02 4.473185 AAGxGTG COVERED NOVEL NOS3-004 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000351550.1 1 7.825189 KEEP 0 0 0 26 910 GG 0.999957 0.999957 0 + 11 60 422 0 0 30.822435 126 60 4604 192 ENST00000484524.1 0.080292 1 NOS3 4846 __UNKNOWN__ __UNKNOWN__ 7 150698879 150698879 __UNKNOWN__ Intron SNP A A G rs1800780 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:150698879A>G ENST00000484524.1 + 12 1502 NOS3_ENST00000467517.1_Intron|NOS3_ENST00000461406.1_Intron|NOS3_ENST00000297494.3_Intron NM_001160111.1 NP_001153583.1 P60323 NANO3_HUMAN nitric oxide synthase 3 (endothelial cell) NA NA germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283) cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471) RNA binding (GO:0003723)|zinc ion binding (GO:0008270) NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CTGTGCACCCAGGACACCCTC 0.627 NA A||| 2852 0.569489 0.5741 0.6643 5008 , , NA 16168 0.5942 NA 0.499 False NA ,,, NA NA NA 2504 0.5429 NA NA NA NA 0 A ,,, 2555,1851 629.9+/-395.4 752,1051,400 47 45 45 ,,, 3.1 0 7 dbSNP_89 45 4614,3986 594.5+/-393.3 1247,2120,933 no intron,intron,intron,intron NOS3 NM_000603.4,NM_001160109.1,NM_001160110.1,NM_001160111.1 ,,, 1999,3171,1333 GG,GA,AA 46.3488,42.0109,44.8793 ,,, ,,, 150698879 7169,5837 2203 4300 6503 SO:0001627 intron_variant CCDS5912.1, CCDS55182.1, CCDS55183.1 7q36 2007-02-15 ENSG00000164867 ENSG00000164867 4846 1.14.13.39 7876 protein-coding gene gene with protein product endothelial nitric oxide synthase 163729 NA 1379542 Standard NM_000603 NM_000603 NA Approved ECNOS, eNOS uc003wif.3 P29474 OTTHUMG00000158343 ENST00000484524.1:c.1503-30A>G chr7.hg19:g.150698879A>G NA Q495E5 hg19 CCDS55182.1 0.02 3.806759 CCCxGGA COVERED NOVEL NOS3-004 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000351550.1 2 7.222007 KEEP 0 0 0 24 753 AA 0.999909 0.999908 0 + 7 60 213 0 0 13.020967 115 60 4162 154 ENST00000484524.1 0.057377 0.999999 ABCB8 11194 __UNKNOWN__ __UNKNOWN__ 7 150733025 150733025 __UNKNOWN__ Silent SNP T T A rs2303926 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:150733025T>A ENST00000498578.1 + 7 1038 c.984T>A c.(982-984)cgT>cgA p.R328R ABCB8_ENST00000358849.4_Silent_p.R328R|ABCB8_ENST00000477719.1_Silent_p.R328R|ABCB8_ENST00000356058.4_Silent_p.R365R|ABCB8_ENST00000542328.1_Silent_p.R240R|ABCB8_ENST00000477092.1_Silent_p.R328R|ABCB8_ENST00000297504.6_Silent_p.R345R Q9NUT2 ABCB8_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 8 345 ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}. NA transmembrane transport (GO:0055085)|transport (GO:0006810) ATP-binding cassette (ABC) transporter complex (GO:0043190)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634) ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215) breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 26 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Doxorubicin(DB00997) GGACTGTGCGTGCCTTCGCCA 0.622 NA T||| 1505 0.300519 0.3306 0.219 5008 , , NA 19863 0.2778 NA 0.2863 False NA ,,, NA NA NA 2504 0.3558 NA NA NA NA 0 T 1335,3071 445.7+/-347.8 195,945,1063 80 65 70 984 -10 0.3 7 dbSNP_100 70 2803,5797 442.7+/-360.2 480,1843,1977 no coding-synonymous ABCB8 NM_007188.3 675,2788,3040 AA,AT,TT 32.593,30.2996,31.8161 328/719 150733025 4138,8868 2203 4300 6503 SO:0001819 synonymous_variant AF047690 CCDS5913.1, CCDS64798.1, CCDS64799.1, CCDS64800.1 7q36.1 2012-05-16 ENSG00000197150 ENSG00000197150 11194 ATP binding cassette transporters / subfamily B 49 protein-coding gene gene with protein product mitochondrial ABC protein 605464 NA 8894702 Standard NM_007188 NM_001282291 NA Approved EST328128, M-ABC1, MABC1 uc003wik.4 Q9NUT2 OTTHUMG00000158686 ENST00000498578.1:c.984T>A chr7.hg19:g.150733025T>A NA A5D8W3|B2RBL8|B3KND2|B4DG02|G3XAP3|O95787|Q53GM0 hg19 0.02 24.146995 GCGxGCC COVERED 632 0.2893772893772894 175 0.3556910569105691 80 0.22099447513812154 157 0.2744755244755245 220 0.29023746701846964 T 3.131 -0.178409 0.06380 0.302996 0.32593 ENSG00000197150 ENST00000491920 . . . 5.34 -9.97 0.00440 . . . . . T 0.00012 0.0000 . . . 0.09310 P 0.9999999999998351 . . . . . . T 0.27502 -1.0072 3 . . . 1.4811 5.0431 0.14469 0.176:0.0819:0.5759:0.1662 rs2303926;rs11553419;rs17448656;rs60135809 . . . S 61 . . C + 1 0 ABCB8 150363958 0.097000 0.21791 0.277000 0.24703 0.177000 0.22998 -0.630000 0.05502 -2.005000 0.00959 -2.213000 0.00299 TGC NOVEL ABCB8-008 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000351738.1 3 30.221701 KEEP 0 1 30 111 3412 TT 1 1 0 + 22 60 819 0 0 51.533212 573 60 20534 810 ENST00000498578.1 0.036975 1 ABCB8 11194 __UNKNOWN__ __UNKNOWN__ 7 150734380 150734380 __UNKNOWN__ Missense_Mutation SNP T T C rs35900662 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:150734380T>C ENST00000477092.1 + 10 1319 c.1270T>C c.(1270-1272)Ttc>Ctc p.F424L ABCB8_ENST00000358849.4_Intron|ABCB8_ENST00000498578.1_Intron|ABCB8_ENST00000477719.1_3'UTR|ABCB8_ENST00000356058.4_Intron|ABCB8_ENST00000542328.1_Intron|ABCB8_ENST00000297504.6_Intron Q9NUT2 ABCB8_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 8 0 ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}. NA transmembrane transport (GO:0055085)|transport (GO:0006810) ATP-binding cassette (ABC) transporter complex (GO:0043190)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634) ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215) breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 26 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Doxorubicin(DB00997) ggctgtgacattccatgcatg 0.562 NA T||| 1511 0.301717 0.3306 0.2233 5008 , , NA 15935 0.2798 NA 0.2873 False NA ,,, NA NA NA 2504 0.3558 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense AF047690 CCDS5913.1, CCDS64798.1, CCDS64799.1, CCDS64800.1 7q36.1 2012-05-16 ENSG00000197150 ENSG00000197150 11194 ATP binding cassette transporters / subfamily B 49 protein-coding gene gene with protein product mitochondrial ABC protein 605464 NA 8894702 Standard NM_007188 NM_001282291 NA Approved EST328128, M-ABC1, MABC1 uc003wik.4 Q9NUT2 OTTHUMG00000158686 ENST00000477092.1:c.1270T>C chr7.hg19:g.150734380T>C ENSP00000419558:p.Phe424Leu NA A5D8W3|B2RBL8|B3KND2|B4DG02|G3XAP3|O95787|Q53GM0 hg19 0.02 8.500886 ACAxTCC COVERED 634 0.2902930402930403 175 0.3556910569105691 81 0.22375690607734808 157 0.2744755244755245 221 0.29155672823219 T 5.269 0.235015 0.09969 . . ENSG00000197150 ENST00000477092 D 0.82433 -1.61 2.24 -4.48 0.03515 . . . . . T 0.00012 0.0000 . . . 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.07520 -1.0768 7 0.12430 T 0.62 . 4.0549 0.09813 0.0:0.317:0.3993:0.2837 rs35900662;rs58328017 424 C9JTY4 . L 424 ENSP00000419558:F424L ENSP00000419558:F424L F + 1 0 ABCB8 150365313 0.000000 0.05858 0.000000 0.03702 0.007000 0.05969 -1.131000 0.03238 -1.108000 0.03000 -0.366000 0.07423 TTC NOVEL ABCB8-010 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000351740.1 0 20.49859 KEEP 0 1 37 81 2626 TT 1 1 0 + 9 60 314 0 0 19.553769 202 60 7273 379 ENST00000477092.1 0.042654 1 ABCB8 11194 __UNKNOWN__ __UNKNOWN__ 7 150734586 150734586 __UNKNOWN__ 3'UTR SNP C C G rs61218626 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:150734586C>G ENST00000477092.1 + 0 1525 ABCB8_ENST00000358849.4_Intron|ABCB8_ENST00000498578.1_Intron|ABCB8_ENST00000477719.1_3'UTR|ABCB8_ENST00000356058.4_Intron|ABCB8_ENST00000542328.1_Intron|ABCB8_ENST00000297504.6_Intron Q9NUT2 ABCB8_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 8 NA NA transmembrane transport (GO:0055085)|transport (GO:0006810) ATP-binding cassette (ABC) transporter complex (GO:0043190)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634) ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215) breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 26 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Doxorubicin(DB00997) GGGCCTCCCCCCTCCTATCTC 0.453 NA C||| 877 0.17512 0.1997 0.1052 5008 , , NA 15632 0.2629 NA 0.1223 False NA ,,, NA NA NA 2504 0.1554 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF047690 CCDS5913.1, CCDS64798.1, CCDS64799.1, CCDS64800.1 7q36.1 2012-05-16 ENSG00000197150 ENSG00000197150 11194 ATP binding cassette transporters / subfamily B 49 protein-coding gene gene with protein product mitochondrial ABC protein 605464 NA 8894702 Standard NM_007188 NM_001282291 NA Approved EST328128, M-ABC1, MABC1 uc003wik.4 Q9NUT2 OTTHUMG00000158686 ENST00000477092.1:c.*180C>G chr7.hg19:g.150734586C>G NA A5D8W3|B2RBL8|B3KND2|B4DG02|G3XAP3|O95787|Q53GM0 hg19 0.02 1.728264 CCCxCTC COVERED NOVEL ABCB8-010 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000351740.1 1 10.534229 KEEP 0 0 0 35 1242 CC 0.999999 0.999947 0 + 4 60 150 0 0 9.652976 94 60 3578 188 ENST00000477092.1 0.040816 0.999948 SLC4A2 6522 __UNKNOWN__ __UNKNOWN__ 7 150768424 150768424 __UNKNOWN__ Intron SNP G G C rs2303935 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:150768424G>C ENST00000461735.1 + 12 2480 SLC4A2_ENST00000413384.2_Intron|SLC4A2_ENST00000485713.1_Intron|SLC4A2_ENST00000310317.5_Intron|SLC4A2_ENST00000392826.2_Intron NM_001199694.1 NP_001186623.1 P04920 B3A2_HUMAN solute carrier family 4 (anion exchanger), member 2 NA NA anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085) basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TGCCTCGAGGGGGTGAGGTGG 0.697 NA G||| 233 0.0465256 0.0015 0.0231 5008 , , NA 12611 0.2083 NA 0.0 False NA ,,, NA NA NA 2504 0.0051 NA NA NA NA 0 G ,,, 2,4272 0,2,2135 7 8 8 ,,, -6.1 0 7 dbSNP_100 8 4,8398 0,4,4197 no intron,intron,intron,intron SLC4A2 NM_001199692.1,NM_001199693.1,NM_001199694.1,NM_003040.3 ,,, 0,6,6332 CC,CG,GG 0.0476,0.0468,0.0473 ,,, ,,, 150768424 6,12670 2137 4201 6338 SO:0001627 intron_variant CCDS5917.1, CCDS56520.1, CCDS56521.1 7q36.1 2013-07-19 2013-07-19 ENSG00000164889 ENSG00000164889 6522 Solute carriers 11028 protein-coding gene gene with protein product anion exchanger 2 type a, anion exchanger 2 type b1, anion exchanger 2 type b2 109280 erythrocyte membrane protein band 3-like 1, solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1) EPB3L1, AE2 NA 8434259 Standard NM_003040 NM_003040 NA Approved HKB3, BND3L, NBND3 uc003wit.4 P04920 OTTHUMG00000158443 ENST00000461735.1:c.1933+40G>C chr7.hg19:g.150768424G>C NA B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3 hg19 CCDS56521.1 0.02 4.111208 AGGxGGT COVERED NOVEL SLC4A2-005 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000351042.2 0 10.533661 KEEP 0 0 0 35 1212 GG 0.999999 0.999991 0 + 6 60 199 0 0 12.658571 104 60 3791 183 ENST00000461735.1 0.054545 0.999993 SLC4A2 6522 __UNKNOWN__ __UNKNOWN__ 7 150773165 150773165 __UNKNOWN__ Silent SNP C C T rs2303940 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:150773165C>T ENST00000461735.1 + 21 4042 c.3495C>T c.(3493-3495)gcC>gcT p.A1165A SLC4A2_ENST00000413384.2_Silent_p.A1179A|SLC4A2_ENST00000485713.1_Silent_p.A1179A|SLC4A2_ENST00000310317.5_Silent_p.A1097A|SLC4A2_ENST00000392826.2_Silent_p.A1170A|RP11-148K1.12_ENST00000485974.1_RNA NM_001199694.1 NP_001186623.1 P04920 B3A2_HUMAN solute carrier family 4 (anion exchanger), member 2 1179 Membrane (anion exchange). NA anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085) basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TGCTCTGGGCCGTCATGTCCA 0.657 NA C||| 350 0.0698882 0.0847 0.0331 5008 , , NA 17249 0.2083 NA 0.0 False NA ,,, NA NA NA 2504 0.0051 NA NA NA NA 0 C ,,, 285,4121 158.1+/-190.9 17,251,1935 90 85 87 3537,3510,3495,3537 -11.1 0 7 dbSNP_100 87 9,8591 7.1+/-27.0 0,9,4291 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous SLC4A2 NM_001199692.1,NM_001199693.1,NM_001199694.1,NM_003040.3 ,,, 17,260,6226 TT,TC,CC 0.1047,6.4685,2.2605 ,,, 1179/1242,1170/1233,1165/1228,1179/1242 150773165 294,12712 2203 4300 6503 SO:0001819 synonymous_variant CCDS5917.1, CCDS56520.1, CCDS56521.1 7q36.1 2013-07-19 2013-07-19 ENSG00000164889 ENSG00000164889 6522 Solute carriers 11028 protein-coding gene gene with protein product anion exchanger 2 type a, anion exchanger 2 type b1, anion exchanger 2 type b2 109280 erythrocyte membrane protein band 3-like 1, solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1) EPB3L1, AE2 NA 8434259 Standard NM_003040 NM_003040 NA Approved HKB3, BND3L, NBND3 uc003wit.4 P04920 OTTHUMG00000158443 ENST00000461735.1:c.3495C>T chr7.hg19:g.150773165C>T NA B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3 hg19 CCDS56521.1 0.02 16.190509 GGCxGTC COVERED NOVEL SLC4A2-005 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000351042.2 1 45.747082 KEEP 0 0 0 152 5280 CC 1 1 0 + 16 60 593 0 0 38.622905 339 60 12134 663 ENST00000461735.1 0.04507 1 SLC4A2 6522 __UNKNOWN__ __UNKNOWN__ 7 150773287 150773287 __UNKNOWN__ Intron SNP T T C rs2303941 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:150773287T>C ENST00000461735.1 + 21 4150 SLC4A2_ENST00000413384.2_Intron|SLC4A2_ENST00000485713.1_Intron|SLC4A2_ENST00000310317.5_Intron|SLC4A2_ENST00000392826.2_Intron|RP11-148K1.12_ENST00000485974.1_RNA NM_001199694.1 NP_001186623.1 P04920 B3A2_HUMAN solute carrier family 4 (anion exchanger), member 2 NA NA anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085) basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AGCCCTCCCGTCTGCCTCCCC 0.607 NA C||| 418 0.0834665 0.1346 0.036 5008 , , NA 17113 0.2083 NA 0.0 False NA ,,, NA NA NA 2504 0.0051 NA NA NA NA 0 C ,,, 437,3969 785.4+/-414.7 27,383,1793 91 95 93 ,,, -0.1 0 7 dbSNP_100 93 13,8587 818.4+/-406.9 0,13,4287 no intron,intron,intron,intron SLC4A2 NM_001199692.1,NM_001199693.1,NM_001199694.1,NM_003040.3 ,,, 27,396,6080 CC,CT,TT 0.1512,9.9183,3.4599 ,,, ,,, 150773287 450,12556 2203 4300 6503 SO:0001627 intron_variant CCDS5917.1, CCDS56520.1, CCDS56521.1 7q36.1 2013-07-19 2013-07-19 ENSG00000164889 ENSG00000164889 6522 Solute carriers 11028 protein-coding gene gene with protein product anion exchanger 2 type a, anion exchanger 2 type b1, anion exchanger 2 type b2 109280 erythrocyte membrane protein band 3-like 1, solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1) EPB3L1, AE2 NA 8434259 Standard NM_003040 NM_003040 NA Approved HKB3, BND3L, NBND3 uc003wit.4 P04920 OTTHUMG00000158443 ENST00000461735.1:c.3603+14T>C chr7.hg19:g.150773287T>C NA B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3 hg19 CCDS56521.1 0.02 9.290385 CCGxCTG COVERED NOVEL SLC4A2-005 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000351042.2 2 27.073884 KEEP 0 0 0 90 2745 TT 1 1 0 + 10 60 374 0 0 24.222574 225 60 7756 395 ENST00000461735.1 0.042553 1 FASTK 10922 __UNKNOWN__ __UNKNOWN__ 7 150774308 150774308 __UNKNOWN__ Missense_Mutation SNP G G A rs2288648 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:150774308G>A ENST00000297532.6 - 8 1384 c.1307C>T c.(1306-1308)gCc>gTc p.A436V FASTK_ENST00000353841.2_Missense_Mutation_p.A295V|FASTK_ENST00000540185.1_3'UTR|FASTK_ENST00000489884.1_5'UTR|FASTK_ENST00000482571.1_Missense_Mutation_p.A409V NM_006712.4 NP_006703.1 Q14296 FASTK_HUMAN Fas-activated serine/threonine kinase 436 NA A -> V (in dbSNP:rs2288648). apoptotic signaling pathway (GO:0097190)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484) mitochondrion (GO:0005739) ATP binding (GO:0005524)|Fas-activated serine/threonine kinase activity (GO:0033867)|protein serine/threonine kinase activity (GO:0004674) lung(4)|stomach(2) 6 OV - Ovarian serous cystadenocarcinoma(82;0.00989) UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138) AGAGCTGCTGGCGCACAGCAG 0.692 NA A||| 403 0.0804712 0.1278 0.0375 5008 , , NA 14044 0.2014 NA 0.0 False NA ,,, NA NA NA 2504 0.0051 NA NA NA NA 0 A VAL/ALA,VAL/ALA 396,4008 771.2+/-413.8 24,348,1830 36 42 40 1307,884 3.5 1 7 dbSNP_100 40 15,8585 811.3+/-407.1 0,15,4285 yes missense,missense FASTK NM_006712.3,NM_033015.2 64,64 24,363,6115 AA,AG,GG 0.1744,8.9918,3.1606 benign,benign 436/550,295/409 150774308 411,12593 2202 4300 6502 SO:0001583 missense CCDS5918.1, CCDS5919.1, CCDS59088.1 7q35 2006-07-06 ENSG00000164896 ENSG00000164896 10922 24676 protein-coding gene gene with protein product 606965 NA 7544399, 15572676 Standard NM_006712 NM_006712 NA Approved FAST uc003wix.2 Q14296 OTTHUMG00000158694 ENST00000297532.6:c.1307C>T chr7.hg19:g.150774308G>A ENSP00000297532:p.Ala436Val NA A8K867|F8VTW9|Q59EM8|Q8IVA0 hg19 CCDS5918.1 0.02 12.680735 CTGxCGC COVERED 176 0.08058608058608059 51 0.10365853658536585 12 0.03314917127071823 113 0.19755244755244755 0 0.0 A 0.467 -0.886264 0.02511 0.089918 0.001744 ENSG00000164896 ENST00000483105;ENST00000297530;ENST00000353841;ENST00000297532;ENST00000482571 T;T;T 0.37584 1.19;1.19;1.19 4.58 3.46 0.39613 FAST kinase-like protein, subdomain 2 (1); 0.091491 0.46145 N 0.000307 T 0.00012 0.0000 N 0.03608 -0.345 0.52099 P 5.100000000002325E-5 B;B;B 0.02656 0.0;0.0;0.0 B;B;B 0.04013 0.0;0.001;0.0 T 0.29792 -1.0000 9 0.10902 T 0.67 -29.0187 6.8737 0.24135 0.7394:0.0:0.2606:0.0 rs2288648;rs57692559;rs2288648 409;295;436 F8VTW9;Q8IVA0;Q14296 .;.;FASTK_HUMAN V 436;436;295;436;409 ENSP00000324817:A295V;ENSP00000297532:A436V;ENSP00000418516:A409V ENSP00000297530:A436V A - 2 0 FASTK 150405241 0.000000 0.05858 0.962000 0.40283 0.723000 0.41478 -0.107000 0.10873 0.864000 0.35578 -0.361000 0.07541 GCC NOVEL FASTK-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000351832.2 1 26.181813 KEEP 0 0 0 87 3062 GG 1 1 0 - 17 60 584 0 0 38.14721 285 60 10213 471 ENST00000297532.6 0.056291 1 GBX1 2636 __UNKNOWN__ __UNKNOWN__ 7 150864240 150864240 __UNKNOWN__ Silent SNP G G C rs13241978 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:150864240G>C ENST00000297537.4 - 1 395 c.396C>G c.(394-396)gcC>gcG p.A132A GBX1_ENST00000475831.1_5'UTR NM_001098834.1 NP_001092304.1 Q14549 GBX1_HUMAN gastrulation brain homeobox 1 132 Ala-rich.|Pro-rich. NA adult walking behavior (GO:0007628)|neuron fate commitment (GO:0048663)|proprioception (GO:0019230)|regulation of transcription, DNA-templated (GO:0006355)|sensory neuron axon guidance (GO:0097374)|spinal cord motor neuron differentiation (GO:0021522)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) sequence-specific DNA binding (GO:0043565) large_intestine(1)|lung(5)|skin(1) 7 OV - Ovarian serous cystadenocarcinoma(82;0.00989) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TGTTTCGggcggcagtggcgg 0.751 NA G||| 1447 0.288938 0.3971 0.3069 5008 , , NA 9229 0.3433 NA 0.2217 False NA ,,, NA NA NA 2504 0.1431 NA NA NA NA 0 G 1127,2329 197,733,798 7 10 9 396 0.2 0 7 dbSNP_121 9 1736,6108 240,1256,2426 no coding-synonymous GBX1 NM_001098834.1 437,1989,3224 CC,CG,GG 22.1316,32.61,25.3363 132/364 150864240 2863,8437 1728 3922 5650 SO:0001819 synonymous_variant L11239 CCDS43682.1 7q36.1 2012-03-09 2005-12-22 ENSG00000164900 ENSG00000164900 2636 Homeoboxes / ANTP class : HOXL subclass 4185 protein-coding gene gene with protein product 603354 gastrulation brain homeo box 1 NA 7903253 Standard NM_001098834 NA Approved uc011kvg.2 Q14549 OTTHUMG00000158751 ENST00000297537.4:c.396C>G chr7.hg19:g.150864240G>C NA hg19 CCDS43682.1 0.02 4.600126 GGCxGCA COVERED NOVEL GBX1-001 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000352029.1 0 12.038548 KEEP 0 0 0 40 1382 GG 1 1 0 - 7 60 240 0 0 15.417704 127 60 4304 214 ENST00000297537.4 0.052239 1 ASB10 136371 __UNKNOWN__ __UNKNOWN__ 7 150883593 150883593 __UNKNOWN__ Missense_Mutation SNP G G A rs77615410 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:150883593G>A ENST00000420175.2 - 2 494 c.470C>T c.(469-471)gCt>gTt p.A157V ASB10_ENST00000422024.1_Missense_Mutation_p.A202V|ASB10_ENST00000275838.1_Missense_Mutation_p.A157V|ASB10_ENST00000434669.1_Missense_Mutation_p.A202V|ASB10_ENST00000377867.3_Missense_Mutation_p.A142V Q8WXI3 ASB10_HUMAN ankyrin repeat and SOCS box containing 10 157 NA intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567) cytoplasm (GO:0005737)|nucleus (GO:0005634) NS(1)|endometrium(2)|lung(7)|skin(2) 12 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GTGGCCTGCAGCACAGGCCTC 0.697 NA G||| 329 0.0656949 0.0408 0.0346 5008 , , NA 16977 0.248 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 G VAL/ALA,VAL/ALA,VAL/ALA 175,4217 3,169,2024 19 18 19 http://www.ncbi.nlm.nih.gov/sites/varvu?gene 470,470,425 2.5 0 7 dbSNP_131 19 13,8577 0,13,4282 yes missense,missense,missense ASB10 NM_001142459.1,NM_001142460.1,NM_080871.3 64,64,64 3,182,6306 AA,AG,GG 0.1513,3.9845,1.4482 benign,benign,benign 157/468,157/430,142/453 150883593 188,12794 2196 4295 6491 SO:0001583 missense AK055536 CCDS5921.2, CCDS47749.1, CCDS47750.1, CCDS47749.2, CCDS47750.2 7q35 2014-02-04 2011-01-25 ENSG00000146926 ENSG00000146926 136371 Ankyrin repeat domain containing 17185 protein-coding gene gene with protein product 615054 ankyrin repeat and SOCS box-containing 10, glaucoma 1, open angle, F (adult-onset) GLC1F NA 22156576 Standard NM_080871 NM_080871 NA Approved uc003wjm.1 Q8WXI3 OTTHUMG00000157013 ENST00000420175.2:c.470C>T chr7.hg19:g.150883593G>A ENSP00000391137:p.Ala157Val NA A0AVH0|Q6ZUL6 hg19 CCDS47750.2 0.02 4.457793 GCAxCAC COVERED 143 0.06547619047619048 24 0.04878048780487805 9 0.024861878453038673 110 0.19230769230769232 0 0.0 G 6.949 0.544984 0.13312 0.039845 0.001513 ENSG00000146926 ENST00000275838;ENST00000377867;ENST00000422024;ENST00000434669;ENST00000420175 T;T;T;T;T 0.65916 -0.18;-0.18;-0.18;-0.18;-0.18 5.29 2.49 0.30216 Ankyrin repeat-containing domain (4); 0.452787 0.24788 N 0.035581 T 0.00109 0.0003 L 0.51422 1.61 0.80722 P 0.0 B;B;B 0.11235 0.001;0.004;0.003 B;B;B 0.16722 0.006;0.016;0.007 T 0.09185 -1.0686 9 0.16896 T 0.51 -0.8302 9.9963 0.41902 0.2895:0.0:0.7105:0.0 . 142;157;202 Q8WXI3-3;Q8WXI3;D5MNW9 .;ASB10_HUMAN;. V 157;142;202;202;157 ENSP00000275838:A157V;ENSP00000367098:A142V;ENSP00000401369:A202V;ENSP00000398247:A202V;ENSP00000391137:A157V ENSP00000275838:A157V A - 2 0 ASB10 150514526 0.055000 0.20627 0.045000 0.18777 0.318000 0.28184 1.832000 0.39151 0.624000 0.30286 -0.218000 0.12543 GCT NOVEL ASB10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347096.3 0 6.621668 KEEP 0 0 0 22 795 GG 0.999879 0.999876 0 - 11 60 371 0 0 26.57868 105 60 3908 175 ENST00000420175.2 0.094828 0.999997 ASB10 136371 __UNKNOWN__ __UNKNOWN__ 7 150883821 150883821 __UNKNOWN__ Intron SNP G G A rs10275219 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:150883821G>A ENST00000420175.2 - 2 341 ASB10_ENST00000422024.1_Intron|ASB10_ENST00000275838.1_Intron|ASB10_ENST00000434669.1_Intron|ASB10_ENST00000377867.3_Intron Q8WXI3 ASB10_HUMAN ankyrin repeat and SOCS box containing 10 NA NA intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567) cytoplasm (GO:0005737)|nucleus (GO:0005634) NS(1)|endometrium(2)|lung(7)|skin(2) 12 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GAGGTGGGCAGAGGCAGGAAG 0.632 NA G||| 808 0.161342 0.2504 0.121 5008 , , NA 17376 0.2887 NA 0.0656 False NA ,,, NA NA NA 2504 0.0368 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK055536 CCDS5921.2, CCDS47749.1, CCDS47750.1, CCDS47749.2, CCDS47750.2 7q35 2014-02-04 2011-01-25 ENSG00000146926 ENSG00000146926 136371 Ankyrin repeat domain containing 17185 protein-coding gene gene with protein product 615054 ankyrin repeat and SOCS box-containing 10, glaucoma 1, open angle, F (adult-onset) GLC1F NA 22156576 Standard NM_080871 NM_080871 NA Approved uc003wjm.1 Q8WXI3 OTTHUMG00000157013 ENST00000420175.2:c.317-75C>T chr7.hg19:g.150883821G>A NA A0AVH0|Q6ZUL6 hg19 CCDS47750.2 0.02 6.526427 GCAxAGG COVERED NOVEL ASB10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347096.3 1 6.620412 KEEP 0 0 0 22 749 GG 0.999879 0.999879 0 - 9 60 334 0 0 22.558286 155 60 5790 219 ENST00000420175.2 0.054878 1 ABCF2 10061 __UNKNOWN__ __UNKNOWN__ 7 150910454 150910454 __UNKNOWN__ 3'UTR SNP C C G rs2608288 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:150910454C>G ENST00000287844.2 - 0 2667 ABCF2_ENST00000222388.2_Intron NM_007189.1 NP_009120.1 Q9UG63 ABCF2_HUMAN ATP-binding cassette, sub-family F (GCN20), member 2 NA NA transport (GO:0006810) ATP-binding cassette (ABC) transporter complex (GO:0043190)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|transporter activity (GO:0005215) breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2) 24 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AGTAAAGGGACAAAGTTCTTC 0.478 NA G||| 2923 0.583666 0.795 0.5908 5008 , , NA 18689 0.2758 NA 0.5487 False NA ,,, NA NA NA 2504 0.6462 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ005016 CCDS5922.1, CCDS5923.1 7q36.1 2012-03-14 ENSG00000033050 ENSG00000033050 10061 ATP binding cassette transporters / subfamily F 71 protein-coding gene gene with protein product 612510 NA 8894702 Standard NM_005692 NM_007189 NA Approved EST133090, ABC28, M-ABC1, HUSSY-18 uc003wjo.1 Q9UG63 OTTHUMG00000154570 ENST00000287844.2:c.*686G>C chr7.hg19:g.150910454C>G NA O60864|Q75MJ0|Q75MJ1|Q96TE8 hg19 CCDS5923.1 0.02 4.656137 GGAxAAA COVERED NOVEL ABCF2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000336086.1 2 7.524552 KEEP 0 0 0 25 894 CC 0.999931 0.999931 0 - 6 60 196 0 0 11.878557 133 60 4825 186 ENST00000287844.2 0.043165 1 SMARCD3 6604 __UNKNOWN__ __UNKNOWN__ 7 150936124 150936124 __UNKNOWN__ 3'UTR SNP C C G rs2290736 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:150936124C>G ENST00000262188.8 - 0 1927 SMARCD3_ENST00000392811.2_3'UTR|SMARCD3_ENST00000356800.2_3'UTR NM_001003801.1 NP_001003801.1 Q6STE5 SMRD3_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3 NA NA cardiac right ventricle formation (GO:0003219)|cellular lipid metabolic process (GO:0044255)|chromatin remodeling (GO:0006338)|muscle cell differentiation (GO:0042692)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein binding (GO:0043393)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|secondary heart field specification (GO:0003139)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514) ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|receptor binding (GO:0005102)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134) haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2) 15 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TGCTGGAGCCCGGGGCAAAAT 0.587 NA C||| 502 0.10024 0.1142 0.1499 5008 , , NA 15909 0.1369 NA 0.0746 False NA ,,, NA NA NA 2504 0.0348 NA NA NA NA 0 C ,, 112,1272 8,96,588 28 27 27 ,, -6.7 0 7 dbSNP_100 27 185,2997 6,173,1412 no utr-3,utr-3,utr-3 SMARCD3 NM_001003801.1,NM_001003802.1,NM_003078.3 ,, 14,269,2000 GG,GC,CC 5.814,8.0925,6.5046 ,, ,, 150936124 297,4269 692 1591 2283 SO:0001624 3_prime_UTR_variant U66619 CCDS5924.1, CCDS34780.1 7q35-q36 2008-07-18 ENSG00000082014 ENSG00000082014 6604 11108 protein-coding gene gene with protein product mammalian chromatin remodeling complex BRG1-associated factor 60C, Swp73-like protein, SWI/SNF complex 60 kDa subunit C, 60kDa BRG-1/Brm associated factor subunit c 601737 NA 8804307, 9693044 Standard NM_001003801 NM_001003801 NA Approved BAF60C, Rsc6p, CRACD3 uc003wjs.3 Q6STE5 OTTHUMG00000157431 ENST00000262188.8:c.*65G>C chr7.hg19:g.150936124C>G NA D3DX10|Q2YD86|Q75MJ2|Q75MR8|Q92926|Q9BUH1 hg19 CCDS34780.1 0.02 9.888409 GCCxGGG COVERED NOVEL SMARCD3-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000348825.1 2 24.678475 KEEP 0 0 0 82 2798 CC 1 1 0 - 16 60 586 0 0 40.869848 219 60 7642 386 ENST00000262188.8 0.068085 1 NUB1 51667 __UNKNOWN__ __UNKNOWN__ 7 151038958 151038958 __UNKNOWN__ Intron SNP T T C rs2142172 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:151038958T>C ENST00000568733.1 + 1 136 NUB1_ENST00000355851.4_Intron|NUB1_ENST00000566856.1_Intron|NUB1_ENST00000413040.2_Intron Q9Y5A7 NUB1_HUMAN negative regulator of ubiquitin-like proteins 1 NA NA positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|response to interferon-gamma (GO:0034341)|response to tumor necrosis factor (GO:0034612)|ubiquitin-dependent protein catabolic process (GO:0006511) cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634) endometrium(1)|large_intestine(7)|lung(3) 11 OV - Ovarian serous cystadenocarcinoma(82;0.00569) UCEC - Uterine corpus endometrioid carcinoma (81;0.172) CCGAGTGTCCTCGACCCCAGC 0.731 NA C||| 2866 0.572284 0.6906 0.5576 5008 , , NA 8166 0.9335 NA 0.2147 False NA ,,, NA NA NA 2504 0.4182 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF300717 CCDS47751.1, CCDS47751.2, CCDS59089.1 7q36 2006-07-27 ENSG00000013374 ENSG00000013374 51667 17623 protein-coding gene gene with protein product NEDD8 ultimate buster-1 607981 NA 10508479, 11259415 Standard NM_016118 NM_001243351 NA Approved BS4, NYREN18 uc003wjx.3 Q9Y5A7 OTTHUMG00000157365 ENST00000568733.1:c.70+26T>C chr7.hg19:g.151038958T>C NA O95422|Q75MR9|Q8IX22|Q9BXR2 hg19 CCDS59089.1 0.02 2.303468 TCCxCGA COVERED NOVEL NUB1-002 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000348634.2 1 28.861851 KEEP 0 0 0 96 2884 TT 1 0.998993 0 + 5 60 180 0 0 12.324682 73 60 2439 246 ENST00000568733.1 0.064103 0.998993 NUB1 51667 __UNKNOWN__ __UNKNOWN__ 7 151064064 151064064 __UNKNOWN__ Silent SNP C C T rs386956 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:151064064C>T ENST00000568733.1 + 9 978 c.912C>T c.(910-912)taC>taT p.Y304Y NUB1_ENST00000355851.4_Silent_p.Y280Y|NUB1_ENST00000566856.1_Silent_p.Y280Y|NUB1_ENST00000413040.2_Silent_p.Y304Y Q9Y5A7 NUB1_HUMAN negative regulator of ubiquitin-like proteins 1 280 NA positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|response to interferon-gamma (GO:0034341)|response to tumor necrosis factor (GO:0034612)|ubiquitin-dependent protein catabolic process (GO:0006511) cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634) endometrium(1)|large_intestine(7)|lung(3) 11 OV - Ovarian serous cystadenocarcinoma(82;0.00569) UCEC - Uterine corpus endometrioid carcinoma (81;0.172) TGGATAACTACGCCGTCCTCC 0.458 NA C||| 1925 0.384385 0.1634 0.4553 5008 , , NA 19414 0.4603 NA 0.6302 False NA ,,, NA NA NA 2504 0.3016 NA NA NA NA 0 C 867,3207 101,665,1271 75 74 74 840 -9.4 0.1 7 dbSNP_80 74 5179,3203 1574,2031,586 no coding-synonymous NUB1 NM_016118.4 1675,2696,1857 TT,TC,CC 38.2128,21.2813,48.5389 280/602 151064064 6046,6410 2037 4191 6228 SO:0001819 synonymous_variant AF300717 CCDS47751.1, CCDS47751.2, CCDS59089.1 7q36 2006-07-27 ENSG00000013374 ENSG00000013374 51667 17623 protein-coding gene gene with protein product NEDD8 ultimate buster-1 607981 NA 10508479, 11259415 Standard NM_016118 NM_001243351 NA Approved BS4, NYREN18 uc003wjx.3 Q9Y5A7 OTTHUMG00000157365 ENST00000568733.1:c.912C>T chr7.hg19:g.151064064C>T NA O95422|Q75MR9|Q8IX22|Q9BXR2 hg19 CCDS59089.1 0.02 4.625903 CTAxGCC COVERED NOVEL NUB1-002 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000348634.2 0 14.480906 KEEP 0 1 31 59 2025 CC 1 1 0 + 12 60 439 0 0 32.278505 119 60 4352 238 ENST00000568733.1 0.091603 1 WDR86 349136 __UNKNOWN__ __UNKNOWN__ 7 151097314 151097314 __UNKNOWN__ Silent SNP A A G rs61741447 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:151097314A>G ENST00000469830.2 - 2 218 c.177T>C c.(175-177)taT>taC p.Y59Y WDR86_ENST00000334493.6_Silent_p.Y59Y|WDR86_ENST00000477459.1_5'UTR NM_001284260.1 NP_001271189.1 Q86TI4 WDR86_HUMAN WD repeat domain 86 59 NA breast(1)|endometrium(2)|kidney(1)|lung(6) 10 OV - Ovarian serous cystadenocarcinoma(82;0.00419) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AGAAGGTCACATAGCTTTCAT 0.562 NA A||| 607 0.121206 0.028 0.1671 5008 , , NA 21100 0.3601 NA 0.0268 False NA ,,, NA NA NA 2504 0.0654 NA NA NA NA 0 A 104,4218 5,94,2062 39 41 41 177 -2.3 1 7 dbSNP_129 41 287,8229 3,281,3974 no coding-synonymous WDR86 NM_198285.2 8,375,6036 GG,GA,AA 3.3701,2.4063,3.0456 59/377 151097314 391,12447 2161 4258 6419 SO:0001819 synonymous_variant AK125347 CCDS5925.2, CCDS64805.1, CCDS64806.1, CCDS75680.1 7q36.1 2013-01-09 ENSG00000187260 ENSG00000187260 349136 WD repeat domain containing 28020 protein-coding gene gene with protein product NA 12477932 Standard NM_198285 NM_198285 NA Approved uc003wkb.2 Q86TI4 OTTHUMG00000150764 ENST00000469830.2:c.177T>C chr7.hg19:g.151097314A>G NA B4DJF1|C9JAJ5|C9JXE3|Q3KNT1|Q6ZUS8 hg19 0.02 2.073695 CACxTAG COVERED NOVEL WDR86-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000348550.2 1 9.326369 KEEP 0 0 0 31 940 AA 0.999997 0.996721 0 - 4 60 141 0 0 9.352762 66 60 2406 119 ENST00000469830.2 0.057143 0.996724 PRKAG2 51422 __UNKNOWN__ __UNKNOWN__ 7 151478406 151478406 __UNKNOWN__ Missense_Mutation SNP C C T rs79474211 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:151478406C>T ENST00000287878.4 - 3 802 c.298G>A c.(298-300)Ggc>Agc p.G100S PRKAG2_ENST00000461529.1_5'UTR|PRKAG2_ENST00000392801.2_Missense_Mutation_p.G56S NM_016203.3 NP_057287.2 Q9UGJ0 AAKG2_HUMAN protein kinase, AMP-activated, gamma 2 non-catalytic subunit 100 NA ATP biosynthetic process (GO:0006754)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|glycogen metabolic process (GO:0005977)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase activity (GO:0045860)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid metabolic process (GO:0019217)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose import (GO:0046324)|regulation of glycolytic process (GO:0006110)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126) AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654) ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|phosphorylase kinase regulator activity (GO:0008607)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901) breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1) 26 all_neural(206;0.187) all_hematologic(28;0.0605) OV - Ovarian serous cystadenocarcinoma(82;0.00252) UCEC - Uterine corpus endometrioid carcinoma (81;0.185) Acetylsalicylic acid(DB00945) TTGGGAGAGCCGGGGCTGGTC 0.662 NA C||| 73 0.0145767 0.0 0.0 5008 , , NA 12906 0.0347 NA 0.001 False NA ,,, NA NA NA 2504 0.0378 NA NA NA NA 0 C SER/GLY,SER/GLY 4,4402 8.1+/-20.4 0,4,2199 36 38 38 166,298 4.1 1 7 dbSNP_131 38 7,8593 5.7+/-21.5 0,7,4293 yes missense,missense PRKAG2 NM_001040633.1,NM_016203.3 56,56 0,11,6492 TT,TC,CC 0.0814,0.0908,0.0846 probably-damaging,probably-damaging 56/526,100/570 151478406 11,12995 2203 4300 6503 SO:0001583 missense AF087875 CCDS5928.1, CCDS43683.1, CCDS47752.1 7q35-q36 2014-09-17 ENSG00000106617 ENSG00000106617 51422 9386 protein-coding gene gene with protein product AMPK gamma2 602743 NA 8557660, 8621499 Standard NM_016203 NM_024429 NA Approved AAKG, AAKG2, H91620p, WPWS, CMH6 uc003wkk.3 Q9UGJ0 OTTHUMG00000157324 ENST00000287878.4:c.298G>A chr7.hg19:g.151478406C>T ENSP00000287878:p.Gly100Ser NA Q53Y07|Q6NUI0|Q75MP4|Q9NUZ9|Q9UDN8|Q9ULX8 hg19 CCDS5928.1 0.02 4.24944 AGCxGGG COVERED 23 0.010531135531135532 0 0.0 0 0.0 23 0.04020979020979021 0 0.0 C 15.21 2.766472 0.49574 9.08E-4 8.14E-4 ENSG00000106617 ENST00000287878;ENST00000392801 D;D 0.88124 -1.98;-2.34 4.96 4.08 0.47627 . 0.232951 0.39985 N 0.001201 T 0.49677 0.1571 L 0.32530 0.975 0.80722 D 1 P 0.48230 0.907 B 0.35550 0.205 T 0.69844 -0.5035 10 0.62326 D 0.03 . 12.3839 0.55322 0.0:0.9185:0.0:0.0815 . 100 Q9UGJ0 AAKG2_HUMAN S 100;56 ENSP00000287878:G100S;ENSP00000376549:G56S ENSP00000287878:G100S G - 1 0 PRKAG2 151109339 0.942000 0.31987 0.993000 0.49108 0.699000 0.40488 2.008000 0.40893 1.081000 0.41110 0.462000 0.41574 GGC NOVEL PRKAG2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000348440.2 4 15.649304 KEEP 0 0 0 52 1798 CC 1 0.999998 0 - 8 60 293 0 0 20.447203 109 60 3694 227 ENST00000287878.4 0.068376 0.999998 GALNTL5 168391 __UNKNOWN__ __UNKNOWN__ 7 151668063 151668063 __UNKNOWN__ Missense_Mutation SNP A A G rs35868297 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:151668063A>G ENST00000392800.2 + 3 535 c.281A>G c.(280-282)cAt>cGt p.H94R GALNTL5_ENST00000431418.2_Missense_Mutation_p.H94R NM_145292.3 NP_660335.2 Q7Z4T8 GLTL5_HUMAN polypeptide N-acetylgalactosaminyltransferase-like 5 94 NA spermatid development (GO:0007286) endosome (GO:0005768)|integral component of membrane (GO:0016021) metal ion binding (GO:0046872) NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3) 32 all_neural(206;0.187) all_hematologic(28;0.0749) OV - Ovarian serous cystadenocarcinoma(82;0.00427) UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166) CCAGAACTTCATAAAGAACTT 0.343 NA a||| 296 0.0591054 0.0023 0.036 5008 , , NA 15663 0.1736 NA 0.0288 False NA ,,, NA NA NA 2504 0.0654 NA NA NA NA 0 G ARG/HIS 24,4382 30.8+/-60.4 0,24,2179 67 70 69 281 -9.9 0 7 dbSNP_126 69 269,8323 102.9+/-164.1 4,261,4031 yes missense GALNTL5 NM_145292.3 29 4,285,6210 GG,GA,AA 3.1308,0.5447,2.2542 benign 94/444 151668063 293,12705 2203 4296 6499 SO:0001583 missense AF440400 CCDS5929.1 7q36.2 2014-03-13 2014-03-13 2004-07-28 ENSG00000106648 ENSG00000106648 168391 Glycosyltransferase family 2 domain containing 21725 protein-coding gene gene with protein product polypeptide GalNAc transferase-like 5 615133 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15, UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5 GALNT15 NA Standard NM_145292 NM_145292 NA Approved GalNAc-T5L uc003wkp.3 Q7Z4T8 OTTHUMG00000157306 ENST00000392800.2:c.281A>G chr7.hg19:g.151668063A>G ENSP00000376548:p.His94Arg NA Q75KN2|Q75MD3|Q8NCV4|Q8WW05|Q9UDR9 hg19 CCDS5929.1 0.02 3.858105 TTCxTAA COVERED 141 0.06456043956043957 0 0.0 6 0.016574585635359115 110 0.19230769230769232 25 0.032981530343007916 a 1.157 -0.645079 0.03531 0.005447 0.031308 ENSG00000106648 ENST00000431418;ENST00000392800 T;T 0.56611 0.45;0.45 4.94 -9.88 0.00467 . 7.054480 0.00166 N 0.000000 T 0.00039 0.0001 N 0.02181 -0.65 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.02546 -1.1143 9 0.02654 T 1 . 3.0342 0.06116 0.5455:0.1433:0.1754:0.1358 rs35868297 94 Q7Z4T8 GLTL5_HUMAN R 94 ENSP00000392582:H94R;ENSP00000376548:H94R ENSP00000376548:H94R H + 2 0 GALNTL5 151298996 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -1.130000 0.03241 -2.856000 0.00329 -1.366000 0.01203 CAT NOVEL GALNTL5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000348395.1 0 6.319333 KEEP 0 0 0 21 667 AA 0.999869 0.999869 0 + 7 60 223 0 0 14.022549 132 60 4943 204 ENST00000392800.2 0.05036 1 GALNT11 63917 __UNKNOWN__ __UNKNOWN__ 7 151791170 151791170 __UNKNOWN__ Intron SNP T T G rs17173334 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:151791170T>G ENST00000434507.1 + 4 399 GALNT11_ENST00000452146.2_Intron|GALNT11_ENST00000320311.2_Intron|GALNT11_ENST00000430044.2_Intron|GALNT11_ENST00000422997.2_Splice_Site|GALNT11_ENST00000415421.1_Intron|GALNT11_ENST00000482812.1_Intron Q8NCW6 GLT11_HUMAN polypeptide N-acetylgalactosaminyltransferase 11 NA NA cellular protein metabolic process (GO:0044267)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via threonine (GO:0018243)|regulation of Notch signaling pathway (GO:0008593) Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021) carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|Notch binding (GO:0005112)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2) 27 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.214) OV - Ovarian serous cystadenocarcinoma(82;0.00168) UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932) CCGTTAACTGTACGCATAGTG 0.358 NA T||| 481 0.0960463 0.0703 0.0793 5008 , , NA 19274 0.1865 NA 0.0149 False NA ,,, NA NA NA 2504 0.1329 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AC006017 CCDS5930.1 7q36.1 2014-05-09 2014-05-09 ENSG00000178234 ENSG00000178234 63917 2.4.1.41 Glycosyltransferase family 2 domain containing 19875 protein-coding gene gene with protein product polypeptide GalNAc transferase 11 615130 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11) NA 11925450 Standard NM_022087 NM_022087 NA Approved GalNAc-T11 uc010lqg.1 Q8NCW6 OTTHUMG00000157251 ENST00000434507.1:c.-38-105T>G chr7.hg19:g.151791170T>G NA B3KWF4|Q6PCD1|Q9H6C2|Q9H6Z5|Q9UDR8 hg19 CCDS5930.1 0.02 6.475963 CTGxACG COVERED NOVEL GALNT11-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000348184.1 0 6.318342 KEEP 0 0 0 21 638 TT 0.999869 0.999869 0 + 9 60 306 0 0 19.544824 172 60 6028 224 ENST00000434507.1 0.049724 1 KMT2C 58508 __UNKNOWN__ __UNKNOWN__ 7 151859683 151859683 __UNKNOWN__ Missense_Mutation SNP G G A rs74483926 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:151859683G>A ENST00000262189.6 - 43 11197 c.10979C>T c.(10978-10980)tCg>tTg p.S3660L KMT2C_ENST00000355193.2_Missense_Mutation_p.S3660L NM_170606.2 NP_733751.2 Q8NEZ4 KMT2C_HUMAN lysine (K)-specific methyltransferase 2C 3660 NA histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634) DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270) NA TGGTTCCACCGACTCTTGGTC 0.512 NA G||| 290 0.0579073 0.003 0.0216 5008 , , NA 16329 0.1478 NA 0.0408 False NA ,,, NA NA NA 2504 0.0828 NA NA NA NA 0 G LEU/SER 40,4366 43.8+/-77.6 0,40,2163 110 113 112 10979 1.7 0 7 dbSNP_131 112 329,8271 115.3+/-175.2 8,313,3979 yes missense MLL3 NM_170606.2 145 8,353,6142 AA,AG,GG 3.8256,0.9079,2.8372 benign 3660/4912 151859683 369,12637 2203 4300 6503 SO:0001583 missense AF264750 CCDS5931.1 7q36 2013-05-09 2013-05-09 2013-05-09 ENSG00000055609 ENSG00000055609 58508 Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type 13726 protein-coding gene gene with protein product 606833 myeloid/lymphoid or mixed-lineage leukemia 3 MLL3 NA 10819331 Standard XM_005250026 NA Approved KIAA1506, HALR Q8NEZ4 OTTHUMG00000150553 ENST00000262189.6:c.10979C>T chr7.hg19:g.151859683G>A ENSP00000262189:p.Ser3660Leu NA Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7 hg19 CCDS5931.1 0.02 17.357263 ACCxACT COVERED 144 0.06593406593406594 5 0.01016260162601626 6 0.016574585635359115 97 0.16958041958041958 36 0.047493403693931395 G 9.435 1.086440 0.20390 0.009079 0.038256 ENSG00000055609 ENST00000262189;ENST00000355193;ENST00000424877 D;D;D 0.89123 -1.77;-1.8;-2.47 5.51 1.72 0.24424 . 1.114660 0.07039 N 0.829852 T 0.01092 0.0036 L 0.47716 1.5 0.58432 P 2.9999999999752447E-6 B;B;B 0.09022 0.002;0.0;0.0 B;B;B 0.04013 0.001;0.001;0.001 T 0.30822 -0.9965 9 0.20046 T 0.44 . 10.6226 0.45489 0.2616:0.0:0.7384:0.0 . 3660;2721;3660 Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3 MLL3_HUMAN;.;. L 3660;3660;246 ENSP00000262189:S3660L;ENSP00000347325:S3660L;ENSP00000410411:S246L ENSP00000262189:S3660L S - 2 0 MLL3 151490616 0.010000 0.17322 0.000000 0.03702 0.000000 0.00434 1.887000 0.39698 0.037000 0.15575 -0.827000 0.03088 TCG NOVEL KMT2C-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000318887.3 1 12.771694 KEEP 0 1 30 53 1716 GG 1 1 0 - 30 60 1045 0 0 72.043186 386 60 13088 531 ENST00000262189.6 0.072115 1 KMT2C 58508 __UNKNOWN__ __UNKNOWN__ 7 151962134 151962134 __UNKNOWN__ Nonsense_Mutation SNP G G T rs146238849 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:151962134G>T ENST00000262189.6 - 8 1391 c.1173C>A c.(1171-1173)tgC>tgA p.C391* KMT2C_ENST00000355193.2_Nonsense_Mutation_p.C391* NM_170606.2 NP_733751.2 Q8NEZ4 KMT2C_HUMAN lysine (K)-specific methyltransferase 2C 391 NA histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634) DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270) p.C391*(2) NA TGCAGTTCTGGCACACTTTGC 0.408 NA NA NA NA NA NA NA NA NA NA NA 2 Substitution - Nonsense(2) NS(2) 230 213 219 NA NA 7 NA 151962134 2203 4297 6500 SO:0001587 stop_gained AF264750 CCDS5931.1 7q36 2013-05-09 2013-05-09 2013-05-09 ENSG00000055609 ENSG00000055609 58508 Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type 13726 protein-coding gene gene with protein product 606833 myeloid/lymphoid or mixed-lineage leukemia 3 MLL3 NA 10819331 Standard XM_005250026 NA Approved KIAA1506, HALR Q8NEZ4 OTTHUMG00000150553 ENST00000262189.6:c.1173C>A chr7.hg19:g.151962134G>T ENSP00000262189:p.Cys391* NA Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7 hg19 CCDS5931.1 0.02 29.620171 CTGxCAC COVERED . . . . . . . . . . G 39 7.887843 0.98545 . . ENSG00000055609 ENST00000262189;ENST00000355193 . . . 4.53 3.62 0.41486 . 0.000000 0.45867 U 0.000330 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.02654 T 1 . 12.2395 0.54534 0.0835:0.0:0.9165:0.0 . . . . X 391 . ENSP00000262189:C391X C - 3 2 MLL3 151593067 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 6.718000 0.74713 2.206000 0.71126 0.460000 0.39030 TGC NOVEL KMT2C-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000318887.3 7 24.515894 KEEP 87 4 124 125 4335 GG 1 1 0 - 48 49 1689 0 0 114.241537 707 60 25112 1176 ENST00000262189.6 0.063576 1 KMT2C 58508 __UNKNOWN__ __UNKNOWN__ 7 151962168 151962168 __UNKNOWN__ Missense_Mutation SNP C C A rs138908625 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:151962168C>A ENST00000262189.6 - 8 1357 c.1139G>T c.(1138-1140)cGt>cTt p.R380L KMT2C_ENST00000355193.2_Missense_Mutation_p.R380L NM_170606.2 NP_733751.2 Q8NEZ4 KMT2C_HUMAN lysine (K)-specific methyltransferase 2C 380 NA histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634) DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270) p.R380L(4) NA CCAACCTGCACGTTTTAATGG 0.443 NA NA NA NA NA NA NA NA NA NA NA 4 Substitution - Missense(4) skin(4) C LEU/ARG 29,4377 25.3+/-52.1 0,29,2174 410 369 383 1139 4.7 1 7 dbSNP_134 383 15,8585 3.7+/-12.6 0,15,4285 no missense MLL3 NM_170606.2 102 0,44,6459 AA,AC,CC 0.1744,0.6582,0.3383 probably-damaging 380/4912 151962168 44,12962 2203 4300 6503 SO:0001583 missense AF264750 CCDS5931.1 7q36 2013-05-09 2013-05-09 2013-05-09 ENSG00000055609 ENSG00000055609 58508 Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type 13726 protein-coding gene gene with protein product 606833 myeloid/lymphoid or mixed-lineage leukemia 3 MLL3 NA 10819331 Standard XM_005250026 NA Approved KIAA1506, HALR Q8NEZ4 OTTHUMG00000150553 ENST00000262189.6:c.1139G>T chr7.hg19:g.151962168C>A ENSP00000262189:p.Arg380Leu NA Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7 hg19 CCDS5931.1 0.02 38.526234 GCAxGTT COVERED . . . . . . . . . . C 14.95 2.688003 0.48097 0.006582 0.001744 ENSG00000055609 ENST00000262189;ENST00000355193 D;D 0.98876 -5.2;-5.2 4.65 4.65 0.58169 Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, PHD-type (1);Protein kinase C-like, phorbol ester/diacylglycerol binding (1);Zinc finger, FYVE/PHD-type (1); 0.000000 0.38548 U 0.001645 D 0.98560 0.9519 M 0.74881 2.28 0.80722 D 1 D 0.69078 0.997 D 0.76071 0.987 D 0.96263 0.9192 10 0.52906 T 0.07 . 17.9157 0.88950 0.0:1.0:0.0:0.0 . 380 Q8NEZ4 MLL3_HUMAN L 380 ENSP00000262189:R380L;ENSP00000347325:R380L ENSP00000262189:R380L R - 2 0 MLL3 151593101 1.000000 0.71417 1.000000 0.80357 0.560000 0.35617 6.039000 0.70972 2.271000 0.75665 0.557000 0.71058 CGT NOVEL KMT2C-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000318887.3 7 35.645059 KEEP 69 7 230 199 6852 CC 1 1 0 - 49 49 1794 0 0 122.512505 767 50 27827 1285 ENST00000262189.6 0.060049 1 KMT2C 58508 __UNKNOWN__ __UNKNOWN__ 7 151962257 151962257 __UNKNOWN__ Silent SNP C C T rs62478357 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:151962257C>T ENST00000262189.6 - 8 1268 c.1050G>A c.(1048-1050)ccG>ccA p.P350P KMT2C_ENST00000355193.2_Silent_p.P350P NM_170606.2 NP_733751.2 Q8NEZ4 KMT2C_HUMAN lysine (K)-specific methyltransferase 2C 350 NA histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634) DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270) NA AGAGGTCTCCCGGGCTGTCGC 0.398 NA NA NA NA NA NA NA NA NA NA NA 0 146 134 138 NA NA 7 NA 151962257 2203 4296 6499 SO:0001819 synonymous_variant AF264750 CCDS5931.1 7q36 2013-05-09 2013-05-09 2013-05-09 ENSG00000055609 ENSG00000055609 58508 Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type 13726 protein-coding gene gene with protein product 606833 myeloid/lymphoid or mixed-lineage leukemia 3 MLL3 NA 10819331 Standard XM_005250026 NA Approved KIAA1506, HALR Q8NEZ4 OTTHUMG00000150553 ENST00000262189.6:c.1050G>A chr7.hg19:g.151962257C>T NA Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7 hg19 CCDS5931.1 0.02 34.350295 TCCxGGG COVERED NOVEL KMT2C-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000318887.3 6 9.346946 KEEP 148 15 488 202 6854 CC 1 1 0 - 44 49 1641 0 0 112.575925 699 60 24009 1306 ENST00000262189.6 0.059219 1 KMT2C 58508 __UNKNOWN__ __UNKNOWN__ 7 151962265 151962265 __UNKNOWN__ Missense_Mutation SNP C C T rs201834857 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:151962265C>T ENST00000262189.6 - 8 1260 c.1042G>A c.(1042-1044)Gac>Aac p.D348N KMT2C_ENST00000355193.2_Missense_Mutation_p.D348N NM_170606.2 NP_733751.2 Q8NEZ4 KMT2C_HUMAN lysine (K)-specific methyltransferase 2C 348 NA histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634) DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270) p.D348N(2) NA CCCGGGCTGTCGCACACTGCA 0.383 NA NA NA NA NA NA NA NA NA NA NA 2 Substitution - Missense(2) skin(2) 112 101 104 NA NA 7 NA 151962265 2203 4296 6499 SO:0001583 missense AF264750 CCDS5931.1 7q36 2013-05-09 2013-05-09 2013-05-09 ENSG00000055609 ENSG00000055609 58508 Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type 13726 protein-coding gene gene with protein product 606833 myeloid/lymphoid or mixed-lineage leukemia 3 MLL3 NA 10819331 Standard XM_005250026 NA Approved KIAA1506, HALR Q8NEZ4 OTTHUMG00000150553 ENST00000262189.6:c.1042G>A chr7.hg19:g.151962265C>T ENSP00000262189:p.Asp348Asn NA Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7 hg19 CCDS5931.1 0.02 29.903621 TGTxGCA COVERED . . . . . . . . . . C 15.09 2.730606 0.48939 . . ENSG00000055609 ENST00000262189;ENST00000355193 D;D 0.98807 -5.15;-5.15 4.65 4.65 0.58169 Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, PHD-type (1);Protein kinase C-like, phorbol ester/diacylglycerol binding (1);Zinc finger, FYVE/PHD-type (1); 0.000000 0.43919 U 0.000512 D 0.98516 0.9505 L 0.47716 1.5 0.80722 D 1 D 0.89917 1.0 D 0.77557 0.99 D 0.98479 1.0604 10 0.23302 T 0.38 . 17.9157 0.88950 0.0:1.0:0.0:0.0 . 348 Q8NEZ4 MLL3_HUMAN N 348 ENSP00000262189:D348N;ENSP00000347325:D348N ENSP00000262189:D348N D - 1 0 MLL3 151593198 1.000000 0.71417 1.000000 0.80357 0.048000 0.14542 7.772000 0.85439 2.271000 0.75665 0.557000 0.71058 GAC NOVEL KMT2C-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000318887.3 5 7.941636 KEEP 156 15 469 191 6420 CC 1 1 0 - 43 49 1532 0 0 103.395089 674 60 23115 1249 ENST00000262189.6 0.059972 1 KMT2C 58508 __UNKNOWN__ __UNKNOWN__ 7 151970710 151970710 __UNKNOWN__ Intron SNP C C A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:151970710C>A ENST00000262189.6 - 7 1231 KMT2C_ENST00000355193.2_Intron NM_170606.2 NP_733751.2 Q8NEZ4 KMT2C_HUMAN lysine (K)-specific methyltransferase 2C NA NA histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634) DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270) NA AGTAGAATAACACTCAGGGAA 0.343 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF264750 CCDS5931.1 7q36 2013-05-09 2013-05-09 2013-05-09 ENSG00000055609 ENSG00000055609 58508 Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type 13726 protein-coding gene gene with protein product 606833 myeloid/lymphoid or mixed-lineage leukemia 3 MLL3 NA 10819331 Standard XM_005250026 NA Approved KIAA1506, HALR Q8NEZ4 OTTHUMG00000150553 ENST00000262189.6:c.1012+79G>T chr7.hg19:g.151970710C>A NA Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7 hg19 CCDS5931.1 0.02 15.01252 TAAxACT COVERED NOVEL KMT2C-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000318887.3 2 2.241556 KEEP 15 1 30 18 613 CC 0.999859 0.999859 0 - 15 60 489 0 0 28.330178 405 60 14576 468 ENST00000262189.6 0.035714 1 KMT2C 58508 __UNKNOWN__ __UNKNOWN__ 7 151970714 151970714 __UNKNOWN__ Intron SNP C C A rs374951494 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:151970714C>A ENST00000262189.6 - 7 1231 KMT2C_ENST00000355193.2_Intron NM_170606.2 NP_733751.2 Q8NEZ4 KMT2C_HUMAN lysine (K)-specific methyltransferase 2C NA NA histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634) DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270) NA GAATAACACTCAGGGAATTTA 0.348 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF264750 CCDS5931.1 7q36 2013-05-09 2013-05-09 2013-05-09 ENSG00000055609 ENSG00000055609 58508 Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type 13726 protein-coding gene gene with protein product 606833 myeloid/lymphoid or mixed-lineage leukemia 3 MLL3 NA 10819331 Standard XM_005250026 NA Approved KIAA1506, HALR Q8NEZ4 OTTHUMG00000150553 ENST00000262189.6:c.1012+75G>T chr7.hg19:g.151970714C>A NA Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7 hg19 CCDS5931.1 0.02 18.567738 ACTxAGG COVERED NOVEL KMT2C-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000318887.3 2 3.244414 KEEP 16 1 32 22 720 CC 0.999879 0.999879 0 - 37 51 1292 0 0 91.525325 409 60 14844 499 ENST00000262189.6 0.08296 1 KMT2C 58508 __UNKNOWN__ __UNKNOWN__ 7 151970859 151970859 __UNKNOWN__ Missense_Mutation SNP C C T rs149992209 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:151970859C>T ENST00000262189.6 - 7 1161 c.943G>A c.(943-945)Ggc>Agc p.G315S KMT2C_ENST00000355193.2_Missense_Mutation_p.G315S NM_170606.2 NP_733751.2 Q8NEZ4 KMT2C_HUMAN lysine (K)-specific methyltransferase 2C 315 NA histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634) DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270) NA TGAAAGGTGCCGGCTCCTGCA 0.428 NA NA NA NA NA NA NA NA NA NA NA 0 263 245 251 NA NA 7 NA 151970859 2203 4300 6503 SO:0001583 missense AF264750 CCDS5931.1 7q36 2013-05-09 2013-05-09 2013-05-09 ENSG00000055609 ENSG00000055609 58508 Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type 13726 protein-coding gene gene with protein product 606833 myeloid/lymphoid or mixed-lineage leukemia 3 MLL3 NA 10819331 Standard XM_005250026 NA Approved KIAA1506, HALR Q8NEZ4 OTTHUMG00000150553 ENST00000262189.6:c.943G>A chr7.hg19:g.151970859C>T ENSP00000262189:p.Gly315Ser NA Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7 hg19 CCDS5931.1 0.02 38.318703 TGCxGGC COVERED . . . . . . . . . . C 22.3 4.265939 0.80358 . . ENSG00000055609 ENST00000262189;ENST00000355193 T;T 0.72615 -0.67;-0.67 4.87 4.87 0.63330 Zinc finger, PHD-type (1); 0.000000 0.45606 D 0.000359 D 0.85999 0.5828 M 0.86028 2.79 0.80722 D 1 D 0.89917 1.0 D 0.97110 1.0 D 0.87947 0.2721 10 0.59425 D 0.04 . 18.3752 0.90433 0.0:1.0:0.0:0.0 . 315 Q8NEZ4 MLL3_HUMAN S 315 ENSP00000262189:G315S;ENSP00000347325:G315S ENSP00000262189:G315S G - 1 0 MLL3 151601792 1.000000 0.71417 0.992000 0.48379 0.975000 0.68041 7.752000 0.85141 2.423000 0.82170 0.650000 0.86243 GGC NOVEL KMT2C-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000318887.3 8 52.86854 KEEP 19 9 289 277 9449 CC 1 1 0 - 23 49 849 0 0 50.059985 823 60 28159 1436 ENST00000262189.6 0.027187 1 KMT2C 58508 __UNKNOWN__ __UNKNOWN__ 7 151970877 151970877 __UNKNOWN__ Missense_Mutation SNP G G A rs138627563 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:151970877G>A ENST00000262189.6 - 7 1143 c.925C>T c.(925-927)Cct>Tct p.P309S KMT2C_ENST00000355193.2_Missense_Mutation_p.P309S NM_170606.2 NP_733751.2 Q8NEZ4 KMT2C_HUMAN lysine (K)-specific methyltransferase 2C 309 NA histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634) DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270) NA GCAGCACAAGGATAATGATAC 0.443 NA NA NA NA NA NA NA NA NA NA NA 0 204 190 195 NA NA 7 NA 151970877 2203 4300 6503 SO:0001583 missense AF264750 CCDS5931.1 7q36 2013-05-09 2013-05-09 2013-05-09 ENSG00000055609 ENSG00000055609 58508 Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type 13726 protein-coding gene gene with protein product 606833 myeloid/lymphoid or mixed-lineage leukemia 3 MLL3 NA 10819331 Standard XM_005250026 NA Approved KIAA1506, HALR Q8NEZ4 OTTHUMG00000150553 ENST00000262189.6:c.925C>T chr7.hg19:g.151970877G>A ENSP00000262189:p.Pro309Ser NA Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7 hg19 CCDS5931.1 0.02 35.176211 AAGxATA COVERED . . . . . . . . . . G 19.24 3.790455 0.70337 . . ENSG00000055609 ENST00000262189;ENST00000355193 T;T 0.70045 -0.45;-0.45 4.87 4.87 0.63330 Zinc finger, PHD-type (1); 0.000000 0.44483 D 0.000455 D 0.83403 0.5247 M 0.83692 2.655 0.80722 D 1 D 0.89917 1.0 D 0.91635 0.999 D 0.85377 0.1117 10 0.54805 T 0.06 . 18.3751 0.90433 0.0:0.0:1.0:0.0 . 309 Q8NEZ4 MLL3_HUMAN S 309 ENSP00000262189:P309S;ENSP00000347325:P309S ENSP00000262189:P309S P - 1 0 MLL3 151601810 1.000000 0.71417 0.804000 0.32291 0.996000 0.88848 9.781000 0.99029 2.423000 0.82170 0.650000 0.86243 CCT NOVEL KMT2C-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000318887.3 8 15.033185 KEEP 60 18 579 253 8820 GG 1 1 0 - 48 49 1752 0 0 118.639067 776 60 29225 1399 ENST00000262189.6 0.058252 1 KMT2C 58508 __UNKNOWN__ __UNKNOWN__ 7 151970969 151970969 __UNKNOWN__ Intron SNP A A C rs201363439 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:151970969A>C ENST00000262189.6 - 7 1068 KMT2C_ENST00000355193.2_Intron NM_170606.2 NP_733751.2 Q8NEZ4 KMT2C_HUMAN lysine (K)-specific methyltransferase 2C NA NA histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634) DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270) NA GGGGTAAAGGAGAGAAATCTC 0.358 NA NA NA NA NA NA NA NA NA NA NA 0 43 42 43 NA NA 7 NA 151970969 2198 4299 6497 SO:0001627 intron_variant AF264750 CCDS5931.1 7q36 2013-05-09 2013-05-09 2013-05-09 ENSG00000055609 ENSG00000055609 58508 Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type 13726 protein-coding gene gene with protein product 606833 myeloid/lymphoid or mixed-lineage leukemia 3 MLL3 NA 10819331 Standard XM_005250026 NA Approved KIAA1506, HALR Q8NEZ4 OTTHUMG00000150553 ENST00000262189.6:c.850-17T>G chr7.hg19:g.151970969A>C NA Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7 hg19 CCDS5931.1 0.02 14.374441 AGGxGAG COVERED NOVEL KMT2C-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000318887.3 0 14.442197 KEEP 158 0 0 48 1467 AA 0.999999 0.999999 0 - 17 49 530 0 0 30.917011 372 60 14118 628 ENST00000262189.6 0.043702 1 KMT2C 58508 __UNKNOWN__ __UNKNOWN__ 7 151970982 151970982 __UNKNOWN__ Intron SNP T T C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:151970982T>C ENST00000262189.6 - 7 1068 KMT2C_ENST00000355193.2_Intron NM_170606.2 NP_733751.2 Q8NEZ4 KMT2C_HUMAN lysine (K)-specific methyltransferase 2C NA NA histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634) DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270) NA GAAATCTCTTTATAAAACCTT 0.343 NA NA NA NA NA NA NA NA NA NA NA 0 38 38 38 NA NA 7 NA 151970982 2197 4294 6491 SO:0001627 intron_variant AF264750 CCDS5931.1 7q36 2013-05-09 2013-05-09 2013-05-09 ENSG00000055609 ENSG00000055609 58508 Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type 13726 protein-coding gene gene with protein product 606833 myeloid/lymphoid or mixed-lineage leukemia 3 MLL3 NA 10819331 Standard XM_005250026 NA Approved KIAA1506, HALR Q8NEZ4 OTTHUMG00000150553 ENST00000262189.6:c.850-30A>G chr7.hg19:g.151970982T>C NA Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7 hg19 CCDS5931.1 0.02 17.402389 CTTxATA COVERED NOVEL KMT2C-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000318887.3 1 6.555085 KEEP 135 1 38 35 1104 TT 0.999931 0.999931 0 - 33 49 1281 0 0 95.338809 342 60 12290 570 ENST00000262189.6 0.088 1 KMT2C 58508 __UNKNOWN__ __UNKNOWN__ 7 152077404 152077404 __UNKNOWN__ Intron SNP G G T rs113824513 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:152077404G>T ENST00000262189.6 - 2 380 KMT2C_ENST00000355193.2_Intron NM_170606.2 NP_733751.2 Q8NEZ4 KMT2C_HUMAN lysine (K)-specific methyltransferase 2C NA NA histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634) DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270) NA tataatcccagcactttggga 0.438 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF264750 CCDS5931.1 7q36 2013-05-09 2013-05-09 2013-05-09 ENSG00000055609 ENSG00000055609 58508 Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type 13726 protein-coding gene gene with protein product 606833 myeloid/lymphoid or mixed-lineage leukemia 3 MLL3 NA 10819331 Standard XM_005250026 NA Approved KIAA1506, HALR Q8NEZ4 OTTHUMG00000150553 ENST00000262189.6:c.162-21644C>A chr7.hg19:g.152077404G>T NA Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7 hg19 CCDS5931.1 0.02 -0.035091 CCAxCAC UNCOVERED NOVEL KMT2C-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000318887.3 6 2.708984 KEEP 0 0 0 9 332 GG 0.99254 0.019833 0 - 3 60 102 0 0 11.630808 0 0 0 16 ENST00000262189.6 1 0.019982 KMT2C 58508 __UNKNOWN__ __UNKNOWN__ 7 152077415 152077415 __UNKNOWN__ Intron SNP G G A rs75970888 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:152077415G>A ENST00000262189.6 - 2 380 KMT2C_ENST00000355193.2_Intron NM_170606.2 NP_733751.2 Q8NEZ4 KMT2C_HUMAN lysine (K)-specific methyltransferase 2C NA NA histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634) DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270) NA cactttgggaggccgaggcag 0.433 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF264750 CCDS5931.1 7q36 2013-05-09 2013-05-09 2013-05-09 ENSG00000055609 ENSG00000055609 58508 Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type 13726 protein-coding gene gene with protein product 606833 myeloid/lymphoid or mixed-lineage leukemia 3 MLL3 NA 10819331 Standard XM_005250026 NA Approved KIAA1506, HALR Q8NEZ4 OTTHUMG00000150553 ENST00000262189.6:c.162-21655C>T chr7.hg19:g.152077415G>A NA Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7 hg19 CCDS5931.1 0.02 -0.043867 GGAxGCC UNCOVERED NOVEL KMT2C-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000318887.3 6 2.708718 KEEP 0 0 0 9 310 GG 0.99254 0.023894 0 - 3 60 118 0 0 12.254397 1 60 37 16 ENST00000262189.6 0.75 0.024074 KMT2C 58508 __UNKNOWN__ __UNKNOWN__ 7 152105086 152105086 __UNKNOWN__ Intron SNP C C T rs5008405 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:152105086C>T ENST00000262189.6 - 1 380 KMT2C_ENST00000355193.2_Intron NM_170606.2 NP_733751.2 Q8NEZ4 KMT2C_HUMAN lysine (K)-specific methyltransferase 2C NA NA histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634) DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270) NA GTAATAGTGGCCAAGGTggcc 0.463 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF264750 CCDS5931.1 7q36 2013-05-09 2013-05-09 2013-05-09 ENSG00000055609 ENSG00000055609 58508 Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type 13726 protein-coding gene gene with protein product 606833 myeloid/lymphoid or mixed-lineage leukemia 3 MLL3 NA 10819331 Standard XM_005250026 NA Approved KIAA1506, HALR Q8NEZ4 OTTHUMG00000150553 ENST00000262189.6:c.161+27624G>A chr7.hg19:g.152105086C>T NA Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7 hg19 CCDS5931.1 0.02 -0.271238 TGGxCAA COVERED NOVEL KMT2C-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000318887.3 8 4.213748 KEEP 0 0 0 14 493 CC 0.995343 0.713975 0 - 4 60 145 0 0 11.886586 18 60 651 61 ENST00000262189.6 0.181818 0.717315 KMT2C 58508 __UNKNOWN__ __UNKNOWN__ 7 152105112 152105112 __UNKNOWN__ Intron SNP C C T rs5004719 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:152105112C>T ENST00000262189.6 - 1 380 KMT2C_ENST00000355193.2_Intron NM_170606.2 NP_733751.2 Q8NEZ4 KMT2C_HUMAN lysine (K)-specific methyltransferase 2C NA NA histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634) DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270) NA gggtggctcacgcctgtaatc 0.488 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF264750 CCDS5931.1 7q36 2013-05-09 2013-05-09 2013-05-09 ENSG00000055609 ENSG00000055609 58508 Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type 13726 protein-coding gene gene with protein product 606833 myeloid/lymphoid or mixed-lineage leukemia 3 MLL3 NA 10819331 Standard XM_005250026 NA Approved KIAA1506, HALR Q8NEZ4 OTTHUMG00000150553 ENST00000262189.6:c.161+27598G>A chr7.hg19:g.152105112C>T NA Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7 hg19 CCDS5931.1 0.02 -0.25442 TCAxGCC COVERED NOVEL KMT2C-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000318887.3 6 3.91265 KEEP 0 0 0 13 457 CC 0.994391 0.664773 0 - 3 60 119 0 0 9.89115 14 60 511 59 ENST00000262189.6 0.176471 0.668523 KMT2C 58508 __UNKNOWN__ __UNKNOWN__ 7 152105631 152105631 __UNKNOWN__ Intron SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:152105631G>A ENST00000262189.6 - 1 380 KMT2C_ENST00000355193.2_Intron NM_170606.2 NP_733751.2 Q8NEZ4 KMT2C_HUMAN lysine (K)-specific methyltransferase 2C NA NA histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634) DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270) NA acctgagctcggcctcctcta 0.542 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF264750 CCDS5931.1 7q36 2013-05-09 2013-05-09 2013-05-09 ENSG00000055609 ENSG00000055609 58508 Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type 13726 protein-coding gene gene with protein product 606833 myeloid/lymphoid or mixed-lineage leukemia 3 MLL3 NA 10819331 Standard XM_005250026 NA Approved KIAA1506, HALR Q8NEZ4 OTTHUMG00000150553 ENST00000262189.6:c.161+27079C>T chr7.hg19:g.152105631G>A NA Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7 hg19 CCDS5931.1 0.02 -0.253034 CTCxGCC COVERED NOVEL KMT2C-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000318887.3 0 2.407646 KEEP 0 0 0 8 270 GG 0.99257 0.663556 0 - 4 60 153 0 0 12.526021 20 60 695 49 ENST00000262189.6 0.166667 0.668523 ACTR3B 57180 __UNKNOWN__ __UNKNOWN__ 7 152497505 152497505 __UNKNOWN__ Intron SNP G G T rs200024079 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:152497505G>T ENST00000256001.8 + 3 234 ACTR3B_ENST00000537264.1_Intron|ACTR3B_ENST00000397282.2_Intron|ACTR3B_ENST00000377776.3_Intron NM_020445.5 NP_065178.1 Q9P1U1 ARP3B_HUMAN ARP3 actin-related protein 3 homolog B (yeast) NA NA cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062) ATP binding (GO:0005524) breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1) 13 all_hematologic(28;0.0592)|Prostate(32;0.191) OV - Ovarian serous cystadenocarcinoma(82;0.0287) UCEC - Uterine corpus endometrioid carcinoma (81;0.0434) ACCCCACATGGAGCCCTAACA 0.348 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS5934.1, CCDS34782.1 7q36.1 2010-07-20 ENSG00000133627 ENSG00000133627 57180 17256 protein-coding gene gene with protein product NA 10806390 Standard NM_020445 NM_001040135 NA Approved ARP11, ARP3beta uc003wle.2 Q9P1U1 OTTHUMG00000151463 ENST00000256001.8:c.101-111G>T chr7.hg19:g.152497505G>T NA A8MTG1|B4DFW4|Q7Z526|Q96BT2 hg19 CCDS5934.1 0.02 2.223347 ATGxAGC COVERED NOVEL ACTR3B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322803.1 0 2.406994 KEEP 0 0 0 8 249 GG 0.99257 0.966729 0 + 4 45 151 0 0 10.853023 49 60 1724 65 ENST00000256001.8 0.075472 0.973965 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 153421319 153421319 __UNKNOWN__ IGR SNP A A G rs2533241 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:153421319A>G NA NA AC073236.3 (310271 upstream) : DPP6 (162862 downstream) NA NA NA cagtaactagatagcttgggc 0.388 NA G||| 2839 0.566893 0.7829 0.5836 5008 , , NA 14832 0.7004 NA 0.3837 False NA ,,, NA NA NA 2504 0.3139 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.153421319A>G NA hg19 0.02 21.951088 TAGxTAG COVERED NOVEL 0 1 2.443505 KEEP 36 1 37 21 677 AA 0.999869 0.999869 0 163 47 5781 0 0 521.705271 320 60 11697 603 0.337474 1 DPP6 1804 __UNKNOWN__ __UNKNOWN__ 7 153584783 153584783 __UNKNOWN__ Silent SNP C C T rs75677723 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:153584783C>T ENST00000404039.1 + 1 602 c.15C>T c.(13-15)gcC>gcT p.A5A NM_001039350.1|NM_001936.3|NM_130797.2 NP_001034439.1|NP_001927.3|NP_570629.2 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 0 NA cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236) NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) AGGAAAAGGCCATGATCAAGA 0.572 NA C||| 27 0.00539137 0.0 0.0 5008 , , NA 13534 0.0258 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NSCLC(125;1384 1783 2490 7422 34254) NA 0 64 61 62 NA NA 7 NA 153584783 1568 3582 5150 SO:0001819 synonymous_variant M96859 CCDS75682.1, CCDS75683.1, CCDS75684.1 7q36.2 2006-08-07 2006-01-12 ENSG00000130226 ENSG00000130226 1804 3010 protein-coding gene gene with protein product 126141 dipeptidylpeptidase VI, dipeptidylpeptidase 6 NA 1729689 Standard NM_130797 XM_006715871 NA Approved DPPX uc003wlk.3 P42658 OTTHUMG00000151511 ENST00000404039.1:c.15C>T chr7.hg19:g.153584783C>T NA hg19 0.02 22.334041 GGCxATG COVERED NOVEL DPP6-001 PUTATIVE basic protein_coding NA protein_coding OTTHUMT00000322930.1 0 11.738135 KEEP 0 0 0 39 1380 CC 1 1 0 + 23 60 852 0 0 55.315713 495 60 18935 697 ENST00000404039.1 0.044402 1 DPP6 1804 __UNKNOWN__ __UNKNOWN__ 7 154143443 154143443 __UNKNOWN__ Intron SNP C C T rs2291538 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:154143443C>T ENST00000377770.3 + 2 499 DPP6_ENST00000332007.3_Intron|DPP6_ENST00000496611.1_Intron|DPP6_ENST00000406326.1_Intron|DPP6_ENST00000427557.1_Intron|DPP6_ENST00000404039.1_Intron P42658 DPP6_HUMAN dipeptidyl-peptidase 6 NA NA cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236) NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) AAAAGCAAGTCGCTGTCAGAG 0.383 NA C||| 1059 0.211462 0.4289 0.1268 5008 , , NA 16371 0.2063 NA 0.1193 False NA ,,, NA NA NA 2504 0.0777 NA NA NA NSCLC(125;1384 1783 2490 7422 34254) NA 0 C ,, 1436,2370 259,918,726 80 79 79 ,, 1.2 0 7 dbSNP_100 79 968,7282 60,848,3217 no intron,intron,intron DPP6 NM_001039350.1.dup,NM_001936.3.dup,NM_130797.2.dup ,, 319,1766,3943 TT,TC,CC 11.7333,37.7299,19.9403 ,, ,, 154143443 2404,9652 1903 4125 6028 SO:0001627 intron_variant M96859 CCDS75682.1, CCDS75683.1, CCDS75684.1 7q36.2 2006-08-07 2006-01-12 ENSG00000130226 ENSG00000130226 1804 3010 protein-coding gene gene with protein product 126141 dipeptidylpeptidase VI, dipeptidylpeptidase 6 NA 1729689 Standard NM_130797 XM_006715871 NA Approved DPPX uc003wlk.3 P42658 OTTHUMG00000151511 ENST00000377770.3:c.358+30C>T chr7.hg19:g.154143443C>T NA hg19 0.02 6.323177 AGTxGCT COVERED NOVEL DPP6-003 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000322932.1 2 4.815599 KEEP 0 0 0 16 557 CC 0.997832 0.997832 0 + 8 60 301 0 0 19.57273 179 60 6132 244 ENST00000377770.3 0.042781 1 DPP6 1804 __UNKNOWN__ __UNKNOWN__ 7 154664510 154664510 __UNKNOWN__ Intron SNP C C T rs2293356 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:154664510C>T ENST00000377770.3 + 19 2024 DPP6_ENST00000332007.3_Intron|DPP6_ENST00000427557.1_Intron|DPP6_ENST00000404039.1_Intron P42658 DPP6_HUMAN dipeptidyl-peptidase 6 NA NA cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236) NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) GGAGAAATGACATTGTTGCAA 0.433 NA T||| 1176 0.234824 0.146 0.1383 5008 , , NA 21270 0.5347 NA 0.1541 False NA ,,, NA NA NA 2504 0.1973 NA NA NA NSCLC(125;1384 1783 2490 7422 34254) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M96859 CCDS75682.1, CCDS75683.1, CCDS75684.1 7q36.2 2006-08-07 2006-01-12 ENSG00000130226 ENSG00000130226 1804 3010 protein-coding gene gene with protein product 126141 dipeptidylpeptidase VI, dipeptidylpeptidase 6 NA 1729689 Standard NM_130797 XM_006715871 NA Approved DPPX uc003wlk.3 P42658 OTTHUMG00000151511 ENST00000377770.3:c.1883+107C>T chr7.hg19:g.154664510C>T NA hg19 0.02 3.939009 TGAxATT COVERED NOVEL DPP6-003 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000322932.1 0 2.407813 KEEP 0 0 0 8 277 CC 0.99257 0.99257 0 + 12 60 427 0 0 30.606562 129 60 4880 165 ENST00000377770.3 0.085106 1 DPP6 1804 __UNKNOWN__ __UNKNOWN__ 7 154667628 154667628 __UNKNOWN__ Silent SNP A A G rs2293353 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:154667628A>G ENST00000377770.3 + 20 2037 c.1896A>G c.(1894-1896)ccA>ccG p.P632P DPP6_ENST00000332007.3_Silent_p.P570P|DPP6_ENST00000427557.1_Silent_p.P525P|DPP6_ENST00000404039.1_Silent_p.P568P P42658 DPP6_HUMAN dipeptidyl-peptidase 6 632 NA cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236) NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) ATGGCACCCCAGGCAGCCAGA 0.652 NA G||| 2941 0.58726 0.7685 0.5937 5008 , , NA 16280 0.5625 NA 0.5219 False NA ,,, NA NA NA 2504 0.4305 NA NA NA NSCLC(125;1384 1783 2490 7422 34254) NA 0 G ,, 3019,1113 1107,805,154 24 29 27 1350,1269,1269 -9.8 0.4 7 dbSNP_100 27 4329,4039 1118,2093,973 no coding-synonymous,coding-synonymous,coding-synonymous DPP6 NM_001039350.1,NM_001936.3,NM_130797.2 ,, 2225,2898,1127 GG,GA,AA 48.2672,26.9361,41.216 ,, 450/684,423/657,423/657 154667628 7348,5152 2066 4184 6250 SO:0001819 synonymous_variant M96859 CCDS75682.1, CCDS75683.1, CCDS75684.1 7q36.2 2006-08-07 2006-01-12 ENSG00000130226 ENSG00000130226 1804 3010 protein-coding gene gene with protein product 126141 dipeptidylpeptidase VI, dipeptidylpeptidase 6 NA 1729689 Standard NM_130797 XM_006715871 NA Approved DPPX uc003wlk.3 P42658 OTTHUMG00000151511 ENST00000377770.3:c.1896A>G chr7.hg19:g.154667628A>G NA hg19 0.02 6.721766 CCCxGGC COVERED NOVEL DPP6-003 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000322932.1 0 6.31958 KEEP 0 0 0 21 676 AA 0.999869 0.999869 0 + 15 60 519 0 0 37.795599 137 60 5056 213 ENST00000377770.3 0.098684 1 DPP6 1804 __UNKNOWN__ __UNKNOWN__ 7 154672551 154672551 __UNKNOWN__ Intron SNP G G C rs4960632 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:154672551G>C ENST00000377770.3 + 21 2219 DPP6_ENST00000332007.3_Intron|DPP6_ENST00000427557.1_Intron|DPP6_ENST00000404039.1_Intron P42658 DPP6_HUMAN dipeptidyl-peptidase 6 NA NA cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236) NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) AGACAAAGTGGCAGCAGGATG 0.483 NA C||| 2115 0.422324 0.4992 0.4856 5008 , , NA 18045 0.5625 NA 0.2833 False NA ,,, NA NA NA 2504 0.272 NA NA NA NSCLC(125;1384 1783 2490 7422 34254) NA 0 C ,, 1862,2308 440,982,663 64 69 68 ,, -1.4 0 7 dbSNP_111 68 2412,6000 363,1686,2157 no intron,intron,intron DPP6 NM_001039350.1,NM_001936.3,NM_130797.2 ,, 803,2668,2820 CC,CG,GG 28.6733,44.6523,33.9692 ,, ,, 154672551 4274,8308 2085 4206 6291 SO:0001627 intron_variant M96859 CCDS75682.1, CCDS75683.1, CCDS75684.1 7q36.2 2006-08-07 2006-01-12 ENSG00000130226 ENSG00000130226 1804 3010 protein-coding gene gene with protein product 126141 dipeptidylpeptidase VI, dipeptidylpeptidase 6 NA 1729689 Standard NM_130797 XM_006715871 NA Approved DPPX uc003wlk.3 P42658 OTTHUMG00000151511 ENST00000377770.3:c.2079-47G>C chr7.hg19:g.154672551G>C NA hg19 0.02 9.375467 GTGxCAG COVERED NOVEL DPP6-003 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000322932.1 2 6.018135 KEEP 0 0 0 20 694 GG 0.999863 0.999863 0 + 28 60 1051 0 0 80.503173 220 60 8266 339 ENST00000377770.3 0.112903 1 DPP6 1804 __UNKNOWN__ __UNKNOWN__ 7 154672662 154672662 __UNKNOWN__ Intron SNP C C T rs3817521 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:154672662C>T ENST00000377770.3 + 21 2274 DPP6_ENST00000332007.3_Intron|DPP6_ENST00000427557.1_Intron|DPP6_ENST00000404039.1_Intron P42658 DPP6_HUMAN dipeptidyl-peptidase 6 NA NA cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236) NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) GGTGAGTCTGCGCCACCCTGG 0.557 NA C||| 800 0.159744 0.0106 0.0937 5008 , , NA 15812 0.4623 NA 0.1004 False NA ,,, NA NA NA 2504 0.1575 NA NA NA NSCLC(125;1384 1783 2490 7422 34254) NA 0 C ,, 118,4098 0,118,1990 90 99 96 ,, -3 0 7 dbSNP_107 96 947,7499 48,851,3324 no intron,intron,intron DPP6 NM_001039350.1,NM_001936.3,NM_130797.2 ,, 48,969,5314 TT,TC,CC 11.2124,2.7989,8.411 ,, ,, 154672662 1065,11597 2108 4223 6331 SO:0001627 intron_variant M96859 CCDS75682.1, CCDS75683.1, CCDS75684.1 7q36.2 2006-08-07 2006-01-12 ENSG00000130226 ENSG00000130226 1804 3010 protein-coding gene gene with protein product 126141 dipeptidylpeptidase VI, dipeptidylpeptidase 6 NA 1729689 Standard NM_130797 XM_006715871 NA Approved DPPX uc003wlk.3 P42658 OTTHUMG00000151511 ENST00000377770.3:c.2133+10C>T chr7.hg19:g.154672662C>T NA hg19 0.02 9.11701 CTGxGCC COVERED NOVEL DPP6-003 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000322932.1 0 4.213299 KEEP 0 0 0 14 466 CC 0.995343 0.995343 0 + 10 60 368 0 0 23.854749 213 60 7197 289 ENST00000377770.3 0.044843 1 DPP6 1804 __UNKNOWN__ __UNKNOWN__ 7 154672679 154672679 __UNKNOWN__ Intron SNP A A T rs3817520 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:154672679A>T ENST00000377770.3 + 21 2274 DPP6_ENST00000332007.3_Intron|DPP6_ENST00000427557.1_Intron|DPP6_ENST00000404039.1_Intron P42658 DPP6_HUMAN dipeptidyl-peptidase 6 NA NA cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236) NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) CTGGTCTGAAAACCCCTCAGT 0.527 NA a||| 2121 0.423522 0.5 0.4856 5008 , , NA 16205 0.5625 NA 0.2883 False NA ,,, NA NA NA 2504 0.272 NA NA NA NSCLC(125;1384 1783 2490 7422 34254) NA 0 A ,, 1854,2250 447,960,645 79 86 84 ,, 1.6 0 7 dbSNP_107 84 2434,5954 366,1702,2126 no intron,intron,intron DPP6 NM_001039350.1,NM_001936.3,NM_130797.2 ,, 813,2662,2771 TT,TA,AA 29.0176,45.1754,34.326 ,, ,, 154672679 4288,8204 2052 4194 6246 SO:0001627 intron_variant M96859 CCDS75682.1, CCDS75683.1, CCDS75684.1 7q36.2 2006-08-07 2006-01-12 ENSG00000130226 ENSG00000130226 1804 3010 protein-coding gene gene with protein product 126141 dipeptidylpeptidase VI, dipeptidylpeptidase 6 NA 1729689 Standard NM_130797 XM_006715871 NA Approved DPPX uc003wlk.3 P42658 OTTHUMG00000151511 ENST00000377770.3:c.2133+27A>T chr7.hg19:g.154672679A>T NA hg19 0.02 9.001795 GAAxACC COVERED NOVEL DPP6-003 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000322932.1 0 3.008417 KEEP 0 0 0 10 296 AA 0.992708 0.992708 0 + 10 60 343 0 0 21.805621 192 60 6520 259 ENST00000377770.3 0.049505 1 DPP6 1804 __UNKNOWN__ __UNKNOWN__ 7 154681050 154681050 __UNKNOWN__ Silent SNP C C T rs1129300 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:154681050C>T ENST00000377770.3 + 24 2514 c.2373C>T c.(2371-2373)gcC>gcT p.A791A DPP6_ENST00000332007.3_Silent_p.A729A|DPP6_ENST00000427557.1_Silent_p.A684A|DPP6_ENST00000404039.1_Silent_p.A727A P42658 DPP6_HUMAN dipeptidyl-peptidase 6 791 NA cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236) p.A727A(1) NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) ATCCCACTGCCGATGGTAAGG 0.483 NA C||| 808 0.161342 0.0053 0.0922 5008 , , NA 19575 0.4673 NA 0.1074 False NA ,,, NA NA NA 2504 0.1616 NA NA NA NSCLC(125;1384 1783 2490 7422 34254) NA 1 Substitution - coding silent(1) stomach(1) C ,, 106,3898 0,106,1896 53 54 54 1827,1746,1746 -9 0 7 dbSNP_86 54 965,7381 50,865,3258 no coding-synonymous,coding-synonymous,coding-synonymous DPP6 NM_001039350.1,NM_001936.3,NM_130797.2 ,, 50,971,5154 TT,TC,CC 11.5624,2.6474,8.6721 ,, 609/684,582/657,582/657 154681050 1071,11279 2002 4173 6175 SO:0001819 synonymous_variant M96859 CCDS75682.1, CCDS75683.1, CCDS75684.1 7q36.2 2006-08-07 2006-01-12 ENSG00000130226 ENSG00000130226 1804 3010 protein-coding gene gene with protein product 126141 dipeptidylpeptidase VI, dipeptidylpeptidase 6 NA 1729689 Standard NM_130797 XM_006715871 NA Approved DPPX uc003wlk.3 P42658 OTTHUMG00000151511 ENST00000377770.3:c.2373C>T chr7.hg19:g.154681050C>T NA hg19 0.02 12.107073 TGCxGAT COVERED NOVEL DPP6-003 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000322932.1 1 3.346047 KEEP 0 1 34 23 783 CC 0.999909 0.999909 0 + 37 60 1399 0 0 110.266283 240 60 8537 381 ENST00000377770.3 0.133574 1 DPP6 1804 __UNKNOWN__ __UNKNOWN__ 7 154681216 154681216 __UNKNOWN__ Silent SNP G G A rs1129301 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:154681216G>A ENST00000377770.3 + 25 2568 c.2427G>A c.(2425-2427)agG>agA p.R809R DPP6_ENST00000332007.3_Silent_p.R747R|DPP6_ENST00000427557.1_Silent_p.R702R|DPP6_ENST00000404039.1_Silent_p.R745R P42658 DPP6_HUMAN dipeptidyl-peptidase 6 809 NA cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236) NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) AACTAATTAGGGGAAAGGCTA 0.378 NA G||| 1322 0.263978 0.351 0.1398 5008 , , NA 16831 0.4663 NA 0.1243 False NA ,,, NA NA NA 2504 0.1697 NA NA NA NSCLC(125;1384 1783 2490 7422 34254) NA 0 G ,, 1312,2482 240,832,825 92 84 86 1881,1800,1800 2.8 0.9 7 dbSNP_86 86 1155,7093 87,981,3056 no coding-synonymous,coding-synonymous,coding-synonymous DPP6 NM_001039350.1,NM_001936.3,NM_130797.2 ,, 327,1813,3881 AA,AG,GG 14.0034,34.5809,20.4866 ,, 627/684,600/657,600/657 154681216 2467,9575 1897 4124 6021 SO:0001819 synonymous_variant M96859 CCDS75682.1, CCDS75683.1, CCDS75684.1 7q36.2 2006-08-07 2006-01-12 ENSG00000130226 ENSG00000130226 1804 3010 protein-coding gene gene with protein product 126141 dipeptidylpeptidase VI, dipeptidylpeptidase 6 NA 1729689 Standard NM_130797 XM_006715871 NA Approved DPPX uc003wlk.3 P42658 OTTHUMG00000151511 ENST00000377770.3:c.2427G>A chr7.hg19:g.154681216G>A NA hg19 0.02 13.599065 TAGxGGA COVERED NOVEL DPP6-003 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000322932.1 3 5.654058 KEEP 0 1 35 31 1058 GG 0.999997 0.999997 0 + 27 60 995 0 0 72.534551 284 60 10114 395 ENST00000377770.3 0.086817 1 DPP6 1804 __UNKNOWN__ __UNKNOWN__ 7 154684153 154684153 __UNKNOWN__ Missense_Mutation SNP T T C rs3734960 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:154684153T>C ENST00000377770.3 + 26 2702 c.2561T>C c.(2560-2562)cTg>cCg p.L854P DPP6_ENST00000332007.3_Missense_Mutation_p.L792P|DPP6_ENST00000427557.1_Missense_Mutation_p.L747P|DPP6_ENST00000404039.1_Missense_Mutation_p.L790P P42658 DPP6_HUMAN dipeptidyl-peptidase 6 854 NA L -> P (in dbSNP:rs3734960). {ECO:0000269|PubMed:8103397}. cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236) NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) GACAAACTGCTGACAGTCACA 0.507 NA C||| 1783 0.35603 0.5234 0.4611 5008 , , NA 17698 0.2738 NA 0.2644 False NA ,,, NA NA NA 2504 0.2342 NA NA NA NSCLC(125;1384 1783 2490 7422 34254) NA 0 C PRO/LEU,PRO/LEU,PRO/LEU 2119,2151 542,1035,558 134 145 142 2015,1934,1934 2.9 0 7 dbSNP_107 142 2325,6155 357,1611,2272 yes missense,missense,missense DPP6 NM_001039350.1,NM_001936.3,NM_130797.2 98,98,98 899,2646,2830 CC,CT,TT 27.4175,49.6253,34.8549 benign,benign,benign 672/684,645/657,645/657 154684153 4444,8306 2135 4240 6375 SO:0001583 missense M96859 CCDS75682.1, CCDS75683.1, CCDS75684.1 7q36.2 2006-08-07 2006-01-12 ENSG00000130226 ENSG00000130226 1804 3010 protein-coding gene gene with protein product 126141 dipeptidylpeptidase VI, dipeptidylpeptidase 6 NA 1729689 Standard NM_130797 XM_006715871 NA Approved DPPX uc003wlk.3 P42658 OTTHUMG00000151511 ENST00000377770.3:c.2561T>C chr7.hg19:g.154684153T>C ENSP00000367001:p.Leu854Pro NA hg19 0.02 14.720958 TGCxGAC COVERED 729 0.33379120879120877 241 0.4898373983739837 149 0.4116022099447514 147 0.256993006993007 192 0.2532981530343008 C 3.365 -0.129586 0.06753 0.496253 0.274175 ENSG00000130226 ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557 T;T;T;T 0.15487 2.44;2.42;2.46;2.45 4.66 2.86 0.33363 . 0.518379 0.21248 N 0.077690 T 0.00012 0.0000 N 0.00823 -1.155 0.80722 P 0.0 B;B;B;B 0.02656 0.0;0.0;0.0;0.0 B;B;B;B 0.01281 0.0;0.0;0.0;0.0 T 0.41034 -0.9531 9 0.52906 T 0.07 -8.5465 9.9808 0.41813 0.0:0.7772:0.0:0.2228 rs3734960;rs10386252;rs52799412;rs58782221;rs3734960 747;792;854;790 E9PDL2;P42658-2;P42658;E9PF59 .;.;DPP6_HUMAN;. P 790;854;792;747 ENSP00000385578:L790P;ENSP00000367001:L854P;ENSP00000328226:L792P;ENSP00000397303:L747P ENSP00000328226:L792P L + 2 0 DPP6 154315086 0.000000 0.05858 0.001000 0.08648 0.002000 0.02628 0.182000 0.16900 0.095000 0.17434 -0.735000 0.03563 CTG NOVEL DPP6-003 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000322932.1 0 2.640388 KEEP 0 1 35 21 651 TT 0.999879 0.999879 0 + 14 60 497 0 0 30.814622 339 60 12599 421 ENST00000377770.3 0.03966 1 DPP6 1804 __UNKNOWN__ __UNKNOWN__ 7 154685562 154685562 __UNKNOWN__ 3'UTR SNP T T C rs3734961 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:154685562T>C ENST00000404039.1 + 0 4365 NM_001039350.1|NM_001936.3|NM_130797.2 NP_001034439.1|NP_001927.3|NP_570629.2 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 NA NA cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236) NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) TATCCATTACTGTCATTTCCT 0.547 NA C||| 1477 0.294928 0.3238 0.4452 5008 , , NA 21031 0.2163 NA 0.2684 False NA ,,, NA NA NA 2504 0.2577 NA NA NA NSCLC(125;1384 1783 2490 7422 34254) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M96859 CCDS75682.1, CCDS75683.1, CCDS75684.1 7q36.2 2006-08-07 2006-01-12 ENSG00000130226 ENSG00000130226 1804 3010 protein-coding gene gene with protein product 126141 dipeptidylpeptidase VI, dipeptidylpeptidase 6 NA 1729689 Standard NM_130797 XM_006715871 NA Approved DPPX uc003wlk.3 P42658 OTTHUMG00000151511 ENST00000404039.1:c.*1372T>C chr7.hg19:g.154685562T>C NA hg19 0.02 7.904318 TACxGTC COVERED NOVEL DPP6-001 PUTATIVE basic protein_coding NA protein_coding OTTHUMT00000322930.1 3 3.911479 KEEP 0 0 0 13 404 TT 0.994391 0.994391 0 + 8 60 275 0 0 16.554043 203 60 7401 258 ENST00000404039.1 0.037915 1 DPP6 1804 __UNKNOWN__ __UNKNOWN__ 7 154685805 154685805 __UNKNOWN__ 3'UTR SNP C C T rs1047064 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:154685805C>T ENST00000404039.1 + 0 4608 NM_001039350.1|NM_001936.3|NM_130797.2 NP_001034439.1|NP_001927.3|NP_570629.2 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 NA NA cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236) NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) AAAGGACCAACGTGCTGATAA 0.483 NA C||| 1468 0.293131 0.32 0.4438 5008 , , NA 21122 0.2143 NA 0.2674 False NA ,,, NA NA NA 2504 0.2577 NA NA NA NSCLC(125;1384 1783 2490 7422 34254) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M96859 CCDS75682.1, CCDS75683.1, CCDS75684.1 7q36.2 2006-08-07 2006-01-12 ENSG00000130226 ENSG00000130226 1804 3010 protein-coding gene gene with protein product 126141 dipeptidylpeptidase VI, dipeptidylpeptidase 6 NA 1729689 Standard NM_130797 XM_006715871 NA Approved DPPX uc003wlk.3 P42658 OTTHUMG00000151511 ENST00000404039.1:c.*1615C>T chr7.hg19:g.154685805C>T NA hg19 0.02 6.496347 CAAxGTG COVERED NOVEL DPP6-001 PUTATIVE basic protein_coding NA protein_coding OTTHUMT00000322930.1 1 6.019525 KEEP 0 0 0 20 704 CC 0.999863 0.999863 0 + 11 60 407 0 0 27.707147 179 60 6380 242 ENST00000404039.1 0.057895 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 154686026 154686026 __UNKNOWN__ IGR SNP C C A rs6958151 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:154686026C>A NA NA DPP6 (31 upstream) : PAXIP1-AS2 (34200 downstream) NA NA NA CTCATCCTCCCCCATCGCACC 0.517 NA A||| 1524 0.304313 0.3563 0.4539 5008 , , NA 18760 0.2143 NA 0.2674 False NA ,,, NA NA NA 2504 0.2587 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.154686026C>A NA hg19 0.02 4.229694 TCCxCCA COVERED NOVEL 0 2 3.310427 KEEP 0 0 0 11 377 CC 0.993072 0.993072 0 12 60 410 0 0 28.870411 130 60 4785 175 0.084507 1 HTR5A-AS1 0 __UNKNOWN__ __UNKNOWN__ 7 154859200 154859200 __UNKNOWN__ 3'UTR SNP G G C rs12533460 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:154859200G>C ENST00000395731.2 - 0 2279 NA NA NA gggtgtggtggcttaggcctg 0.438 NA G||| 1103 0.220248 0.0182 0.2378 5008 , , NA 18034 0.249 NA 0.325 False NA ,,, NA NA NA 2504 0.3436 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant NA NA NA NA ENST00000395731.2:c.*1726C>G chr7.hg19:g.154859200G>C NA hg19 0.02 -0.420374 GTGxCTT COVERED NOVEL HTR5A-AS1-001 PUTATIVE basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000322238.1 1 3.009575 KEEP 0 0 0 10 338 GG 0.992708 0.941486 0 - 5 60 175 0 0 12.925737 43 60 1548 63 ENST00000395731.2 0.104167 0.948402 HTR5A-AS1 0 __UNKNOWN__ __UNKNOWN__ 7 154859429 154859429 __UNKNOWN__ 3'UTR SNP A A G rs12536554 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:154859429A>G ENST00000395731.2 - 0 2050 NA NA NA caaaaaacagaagcaaaaaCA 0.393 NA A||| 1173 0.234225 0.0688 0.2421 5008 , , NA 20117 0.249 NA 0.325 False NA ,,, NA NA NA 2504 0.3436 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant NA NA NA NA ENST00000395731.2:c.*1497T>C chr7.hg19:g.154859429A>G NA hg19 0.02 2.165078 CAGxAGC COVERED NOVEL HTR5A-AS1-001 PUTATIVE basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000322238.1 5 7.960739 KEEP 0 1 39 40 1277 AA 1 0.999907 0 - 7 60 255 0 0 18.032287 87 60 3017 164 ENST00000395731.2 0.074468 0.999907 HTR5A-AS1 0 __UNKNOWN__ __UNKNOWN__ 7 154862188 154862188 __UNKNOWN__ Intron SNP A A G rs3823534 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:154862188A>G ENST00000395731.2 - 1 524 HTR5A-AS1_ENST00000543018.1_Intron|HTR5A-AS1_ENST00000493904.1_Intron|HTR5A_ENST00000287907.2_5'UTR NA NA NA GGGCAGGGAGACAACGCGGTG 0.642 NA G||| 1773 0.354034 0.4387 0.2651 5008 , , NA 15832 0.3978 NA 0.2674 False NA ,,, NA NA NA 2504 0.3466 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000395731.2:c.270+555T>C chr7.hg19:g.154862188A>G NA hg19 0.02 11.977951 GAGxCAA COVERED NOVEL HTR5A-AS1-001 PUTATIVE basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000322238.1 1 12.034798 KEEP 0 0 0 40 1219 AA 1 1 0 - 20 60 736 0 0 52.224586 249 60 8550 377 ENST00000395731.2 0.074349 1 HTR5A-AS1 0 __UNKNOWN__ __UNKNOWN__ 7 154862508 154862508 __UNKNOWN__ Intron SNP A A G rs3734967 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:154862508A>G ENST00000395731.2 - 1 524 HTR5A-AS1_ENST00000543018.1_Intron|HTR5A-AS1_ENST00000493904.1_Intron|HTR5A_ENST00000287907.2_5'UTR NA NA NA CCCACTGGCCAGAGGTTGCAA 0.587 NA A||| 1128 0.22524 0.0356 0.2349 5008 , , NA 18253 0.2718 NA 0.3181 False NA ,,, NA NA NA 2504 0.3313 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000395731.2:c.270+235T>C chr7.hg19:g.154862508A>G NA hg19 0.02 19.764467 GCCxGAG COVERED NOVEL HTR5A-AS1-001 PUTATIVE basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000322238.1 1 12.034752 KEEP 0 0 0 40 1234 AA 1 1 0 - 45 60 1477 0 0 107.115447 381 60 13883 508 ENST00000395731.2 0.105634 1 HTR5A-AS1 0 __UNKNOWN__ __UNKNOWN__ 7 154862591 154862591 __UNKNOWN__ Intron SNP G G C rs386719825|rs1800883 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:154862591G>C ENST00000395731.2 - 1 524 HTR5A-AS1_ENST00000543018.1_Intron|HTR5A-AS1_ENST00000493904.1_Intron|HTR5A_ENST00000287907.2_5'UTR NA NA NA GTACCCCAGGGCGGTCTCCTG 0.582 NA C||| 2265 0.452276 0.388 0.4957 5008 , , NA 18043 0.5308 NA 0.4046 False NA ,,, NA NA NA 2504 0.4765 NA NA NA NA 0 GRCh37 CR072315 HTR5A R rs1800883 C 1755,2651 366,1023,814 85 97 93 2.2 0 7 dbSNP_89 93 2738,5862 525,1688,2087 no utr-5 HTR5A NM_024012.2 891,2711,2901 CC,CG,GG 31.8372,39.832,34.5456 154862591 4493,8513 2203 4300 6503 SO:0001627 intron_variant NA NA NA NA ENST00000395731.2:c.270+152C>G chr7.hg19:g.154862591G>C NA hg19 0.02 29.78418 AGGxCGG COVERED NOVEL HTR5A-AS1-001 PUTATIVE basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000322238.1 2 20.767536 KEEP 0 0 0 69 2451 GG 1 1 0 - 68 60 2443 0 0 182.402365 578 60 21065 857 ENST00000395731.2 0.105263 1 INSIG1 3638 __UNKNOWN__ __UNKNOWN__ 7 155094592 155094592 __UNKNOWN__ Intron SNP C C T rs9768652 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:155094592C>T ENST00000342407.5 + 3 610 INSIG1_ENST00000340368.4_Intron|INSIG1_ENST00000344756.4_Intron NM_198337.2 NP_938151.1 O15503 INSI1_HUMAN insulin induced gene 1 NA NA cell proliferation (GO:0008283)|cholesterol biosynthetic process (GO:0006695)|cranial suture morphogenesis (GO:0060363)|inner ear morphogenesis (GO:0042472)|metabolic process (GO:0008152)|middle ear morphogenesis (GO:0042474)|negative regulation of cargo loading into COPII-coated vesicle (GO:1901303)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of steroid biosynthetic process (GO:0010894)|palate development (GO:0060021)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)|triglyceride metabolic process (GO:0006641) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|SREBP-SCAP-Insig complex (GO:0032937) endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2) 19 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CTAAAACTTGCGTCTCTTTAC 0.378 NA c||| 1213 0.242212 0.3033 0.1282 5008 , , NA 18555 0.3323 NA 0.1521 False NA ,,, NA NA NA 2504 0.2403 NA NA NA NA 0 C ,, 1220,3186 422.5+/-339.8 170,880,1153 92 93 93 ,, -5.9 0 7 dbSNP_119 93 1190,7410 241.5+/-271.8 80,1030,3190 no intron,intron,intron INSIG1 NM_005542.4,NM_198336.2,NM_198337.2 ,, 250,1910,4343 TT,TC,CC 13.8372,27.6895,18.5299 ,, ,, 155094592 2410,10596 2203 4300 6503 SO:0001627 intron_variant CCDS5938.1, CCDS5939.1 7q36 2008-07-18 ENSG00000186480 ENSG00000186480 3638 6083 protein-coding gene gene with protein product INSIG-1 membrane protein 602055 NA 9268630 Standard NM_198336 NM_005542 NA Approved CL-6, MGC1405 uc003wly.3 O15503 OTTHUMG00000151330 ENST00000342407.5:c.492+36C>T chr7.hg19:g.155094592C>T NA A4D2N1|A8K6L0|Q53XW8|Q9BUV5 hg19 CCDS5939.1 0.02 10.685699 TTGxGTC COVERED NOVEL INSIG1-003 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000322246.3 0 13.542621 KEEP 0 0 0 45 1530 CC 1 1 0 + 14 60 508 0 0 33.884477 243 60 8277 352 ENST00000342407.5 0.054475 1 INSIG1 3638 __UNKNOWN__ __UNKNOWN__ 7 155100685 155100685 __UNKNOWN__ 3'UTR SNP G G A rs77905358 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:155100685G>A ENST00000340368.4 + 0 1750 INSIG1_ENST00000344756.4_3'UTR NM_005542.4 NP_005533.2 O15503 INSI1_HUMAN insulin induced gene 1 NA NA cell proliferation (GO:0008283)|cholesterol biosynthetic process (GO:0006695)|cranial suture morphogenesis (GO:0060363)|inner ear morphogenesis (GO:0042472)|metabolic process (GO:0008152)|middle ear morphogenesis (GO:0042474)|negative regulation of cargo loading into COPII-coated vesicle (GO:1901303)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of steroid biosynthetic process (GO:0010894)|palate development (GO:0060021)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)|triglyceride metabolic process (GO:0006641) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|SREBP-SCAP-Insig complex (GO:0032937) endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2) 19 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CCCACACTGCGATATATTGGA 0.398 NA g||| 236 0.0471246 0.0189 0.0014 5008 , , NA 20514 0.1647 NA 0.003 False NA ,,, NA NA NA 2504 0.0419 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS5938.1, CCDS5939.1 7q36 2008-07-18 ENSG00000186480 ENSG00000186480 3638 6083 protein-coding gene gene with protein product INSIG-1 membrane protein 602055 NA 9268630 Standard NM_198336 NM_005542 NA Approved CL-6, MGC1405 uc003wly.3 O15503 OTTHUMG00000151330 ENST00000340368.4:c.*705G>A chr7.hg19:g.155100685G>A NA A4D2N1|A8K6L0|Q53XW8|Q9BUV5 hg19 CCDS5938.1 0.02 8.029533 TGCxATA COVERED NOVEL INSIG1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322244.3 3 12.939582 KEEP 0 0 0 43 1393 GG 1 1 0 + 9 60 326 0 0 20.217504 232 60 8174 315 ENST00000340368.4 0.037344 1 EN2 2020 __UNKNOWN__ __UNKNOWN__ 7 155256375 155256375 __UNKNOWN__ 3'UTR SNP T T C rs4716597 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:155256375T>C ENST00000297375.4 + 0 2244 NM_001427.3 NP_001418.2 P19622 HME2_HUMAN engrailed homeobox 2 NA NA hindbrain development (GO:0030902)|midbrain development (GO:0030901)|multicellular organismal development (GO:0007275)|neuron development (GO:0048666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944) membrane (GO:0016020)|nucleus (GO:0005634) sequence-specific DNA binding (GO:0043565) central_nervous_system(1)|large_intestine(1)|lung(2) 4 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AGGCCTGGGGTGTGTGGCCTA 0.647 NA T||| 1717 0.342851 0.0976 0.33 5008 , , NA 14564 0.6369 NA 0.3946 False NA ,,, NA NA NA 2504 0.3272 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS5940.1 7q36.2 2011-06-20 2007-02-15 ENSG00000164778 ENSG00000164778 2020 Homeoboxes / ANTP class : NKL subclass 3343 protein-coding gene gene with protein product 131310 NA Standard NM_001427 NM_001427 NA Approved uc003wmb.3 P19622 OTTHUMG00000151354 ENST00000297375.4:c.*993T>C chr7.hg19:g.155256375T>C NA A4D252|Q549U3|Q9UD58 hg19 CCDS5940.1 0.02 14.647204 GGGxGTG COVERED NOVEL EN2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322337.1 1 12.325465 KEEP 0 0 0 41 1187 TT 1 1 0 + 31 60 1107 0 0 81.478227 286 70 9637 424 ENST00000297375.4 0.097792 1 RBM33 155435 __UNKNOWN__ __UNKNOWN__ 7 155530363 155530363 __UNKNOWN__ Intron SNP A A G rs2249337 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:155530363A>G ENST00000401878.3 + 10 1591 NM_053043.2 NP_444271.2 Q96EV2 RBM33_HUMAN RNA binding motif protein 33 NA NA nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822) breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 27 all_neural(206;0.101) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.2) GGAGGTACAGAAAGAGTGAGT 0.512 NA A||| 1307 0.260982 0.3525 0.2406 5008 , , NA 16453 0.3125 NA 0.1839 False NA ,,, NA NA NA 2504 0.1779 NA NA NA NA 0 A 1171,2619 183,805,907 23 24 24 0.2 0 7 dbSNP_100 24 1591,6663 171,1249,2707 no intron RBM33 NM_053043.2 354,2054,3614 GG,GA,AA 19.2755,30.8971,22.9326 155530363 2762,9282 1895 4127 6022 SO:0001627 intron_variant AL832196 CCDS5941.2 7q36.3 2013-02-12 ENSG00000184863 ENSG00000184863 155435 RNA binding motif (RRM) containing 27223 protein-coding gene gene with protein product proline rich 8 PRR8 NA Standard NM_001008408 NM_053043 NA Approved DKFZp686F102, MGC20460, DKFZp434D1319 uc010lqk.1 Q96EV2 OTTHUMG00000150260 ENST00000401878.3:c.1393+7A>G chr7.hg19:g.155530363A>G NA A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0 hg19 CCDS5941.2 0.02 11.6962 CAGxAAG COVERED NOVEL RBM33-007 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000317225.3 0 12.034765 KEEP 0 0 0 40 1213 AA 1 1 0 + 24 60 883 0 0 64.71073 243 60 8637 356 ENST00000401878.3 0.089888 1 RBM33 155435 __UNKNOWN__ __UNKNOWN__ 7 155530954 155530954 __UNKNOWN__ Silent SNP T T C rs2178428 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:155530954T>C ENST00000401878.3 + 11 1792 c.1594T>C c.(1594-1596)Ttg>Ctg p.L532L NM_053043.2 NP_444271.2 Q96EV2 RBM33_HUMAN RNA binding motif protein 33 532 Pro-rich. NA nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822) breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 27 all_neural(206;0.101) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.2) ACGACCAGCCTTGCAGCCTCC 0.597 NA C||| 1590 0.317492 0.5492 0.2695 5008 , , NA 17130 0.3125 NA 0.1869 False NA ,,, NA NA NA 2504 0.1779 NA NA NA NA 0 C 2011,2151 485,1041,555 80 90 87 1594 1.8 0.7 7 dbSNP_96 87 1626,6790 177,1272,2759 no coding-synonymous RBM33 NM_053043.2 662,2313,3314 CC,CT,TT 19.3203,48.3181,28.9156 532/1171 155530954 3637,8941 2081 4208 6289 SO:0001819 synonymous_variant AL832196 CCDS5941.2 7q36.3 2013-02-12 ENSG00000184863 ENSG00000184863 155435 RNA binding motif (RRM) containing 27223 protein-coding gene gene with protein product proline rich 8 PRR8 NA Standard NM_001008408 NM_053043 NA Approved DKFZp686F102, MGC20460, DKFZp434D1319 uc010lqk.1 Q96EV2 OTTHUMG00000150260 ENST00000401878.3:c.1594T>C chr7.hg19:g.155530954T>C NA A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0 hg19 CCDS5941.2 0.02 13.864844 GCCxTGC COVERED NOVEL RBM33-007 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000317225.3 5 26.780267 KEEP 0 0 0 89 2839 TT 1 1 0 + 22 60 786 0 0 53.705169 327 60 11784 528 ENST00000401878.3 0.063037 1 RBM33 155435 __UNKNOWN__ __UNKNOWN__ 7 155532361 155532361 __UNKNOWN__ Intron SNP G G A rs3801906 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:155532361G>A ENST00000401878.3 + 12 1935 NM_053043.2 NP_444271.2 Q96EV2 RBM33_HUMAN RNA binding motif protein 33 NA NA nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822) breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 27 all_neural(206;0.101) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.2) GATTATGCCCGGTGTAACCAT 0.433 NA G||| 1307 0.260982 0.3525 0.2406 5008 , , NA 11751 0.3125 NA 0.1839 False NA ,,, NA NA NA 2504 0.1779 NA NA NA NA 0 G 955,2215 149,657,779 66 76 73 -9.7 0 7 dbSNP_107 73 1051,4461 108,835,1813 no intron RBM33 NM_053043.2 257,1492,2592 AA,AG,GG 19.0675,30.1262,23.1053 155532361 2006,6676 1585 2756 4341 SO:0001627 intron_variant AL832196 CCDS5941.2 7q36.3 2013-02-12 ENSG00000184863 ENSG00000184863 155435 RNA binding motif (RRM) containing 27223 protein-coding gene gene with protein product proline rich 8 PRR8 NA Standard NM_001008408 NM_053043 NA Approved DKFZp686F102, MGC20460, DKFZp434D1319 uc010lqk.1 Q96EV2 OTTHUMG00000150260 ENST00000401878.3:c.1738-48G>A chr7.hg19:g.155532361G>A NA A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0 hg19 CCDS5941.2 0.02 7.437693 CCCxGTG COVERED NOVEL RBM33-007 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000317225.3 2 16.201628 KEEP 0 0 0 54 1764 GG 1 1 0 + 8 60 313 0 0 21.556043 142 60 4925 262 ENST00000401878.3 0.053333 1 RBM33 155435 __UNKNOWN__ __UNKNOWN__ 7 155534653 155534653 __UNKNOWN__ Silent SNP C C G rs73167165 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:155534653C>G ENST00000401878.3 + 13 2388 c.2190C>G c.(2188-2190)ccC>ccG p.P730P NM_053043.2 NP_444271.2 Q96EV2 RBM33_HUMAN RNA binding motif protein 33 730 NA nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822) breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 27 all_neural(206;0.101) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.2) CTGCCACGCCCTCAGCACAAG 0.577 NA C||| 329 0.0656949 0.1566 0.0591 5008 , , NA 16824 0.0198 NA 0.0388 False NA ,,, NA NA NA 2504 0.0225 NA NA NA NA 0 C 634,3772 274.0+/-271.7 36,562,1605 93 91 92 2190 -5.4 0 7 dbSNP_130 92 309,8291 111.0+/-171.3 4,301,3995 no coding-synonymous RBM33 NM_053043.2 40,863,5600 GG,GC,CC 3.593,14.3895,7.2505 730/1171 155534653 943,12063 2203 4300 6503 SO:0001819 synonymous_variant AL832196 CCDS5941.2 7q36.3 2013-02-12 ENSG00000184863 ENSG00000184863 155435 RNA binding motif (RRM) containing 27223 protein-coding gene gene with protein product proline rich 8 PRR8 NA Standard NM_001008408 NM_053043 NA Approved DKFZp686F102, MGC20460, DKFZp434D1319 uc010lqk.1 Q96EV2 OTTHUMG00000150260 ENST00000401878.3:c.2190C>G chr7.hg19:g.155534653C>G NA A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0 hg19 CCDS5941.2 0.02 30.791109 GCCxTCA COVERED 136 0.06227106227106227 71 0.1443089430894309 18 0.049723756906077346 13 0.022727272727272728 34 0.044854881266490766 C 2.751 -0.260061 0.05791 0.143895 0.03593 ENSG00000184863 ENST00000392761 T 0.28255 1.62 5.66 -5.38 0.02673 . 0.182576 0.39274 N 0.001411 T 0.00178 0.0005 . . . 0.09310 P 0.999999999673283 . . . . . . T 0.07616 -1.0763 6 0.59425 D 0.04 . 3.1545 0.06499 0.1798:0.3819:0.092:0.3462 . . . . R 502 ENSP00000376514:P502R ENSP00000376514:P502R P + 2 0 RBM33 155227414 0.104000 0.21937 0.000000 0.03702 0.262000 0.26303 -1.069000 0.03444 -1.364000 0.02161 -0.229000 0.12294 CCT NOVEL RBM33-007 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000317225.3 7 58.692255 KEEP 0 0 0 195 7082 CC 1 1 0 + 39 60 1390 0 0 91.480126 695 60 26418 1133 ENST00000401878.3 0.053134 1 RBM33 155435 __UNKNOWN__ __UNKNOWN__ 7 155556456 155556456 __UNKNOWN__ Intron SNP T T G rs73167201 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:155556456T>G ENST00000401878.3 + 15 3177 RBM33_ENST00000341148.3_Intron NM_053043.2 NP_444271.2 Q96EV2 RBM33_HUMAN RNA binding motif protein 33 NA NA nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822) breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 27 all_neural(206;0.101) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.2) GGGGAGGAGCTTTTGGTGGAG 0.517 NA G||| 351 0.0700879 0.1717 0.0605 5008 , , NA 18084 0.0198 NA 0.0398 False NA ,,, NA NA NA 2504 0.0225 NA NA NA NA 0 G 580,3442 33,514,1464 14 15 14 -1.8 0 7 dbSNP_130 14 290,8056 4,282,3887 no intron RBM33 NM_053043.2 37,796,5351 GG,GT,TT 3.4747,14.4207,7.0343 155556456 870,11498 2011 4173 6184 SO:0001627 intron_variant AL832196 CCDS5941.2 7q36.3 2013-02-12 ENSG00000184863 ENSG00000184863 155435 RNA binding motif (RRM) containing 27223 protein-coding gene gene with protein product proline rich 8 PRR8 NA Standard NM_001008408 NM_053043 NA Approved DKFZp686F102, MGC20460, DKFZp434D1319 uc010lqk.1 Q96EV2 OTTHUMG00000150260 ENST00000401878.3:c.2980-50T>G chr7.hg19:g.155556456T>G NA A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0 hg19 CCDS5941.2 0.02 4.311894 AGCxTTT COVERED NOVEL RBM33-007 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000317225.3 0 6.318812 KEEP 0 0 0 21 651 TT 0.999869 0.999869 0 + 8 60 274 0 0 17.816199 136 60 5060 201 ENST00000401878.3 0.055556 1 RBM33 155435 __UNKNOWN__ __UNKNOWN__ 7 155569016 155569016 __UNKNOWN__ 3'UTR SNP C C G rs3801905 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:155569016C>G ENST00000401878.3 + 0 4992 RBM33_ENST00000341148.3_3'UTR NM_053043.2 NP_444271.2 Q96EV2 RBM33_HUMAN RNA binding motif protein 33 NA NA nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822) breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 27 all_neural(206;0.101) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.2) TTTATACCTACGATTTCATGT 0.403 NA C||| 119 0.023762 0.0023 0.0519 5008 , , NA 20088 0.0198 NA 0.0378 False NA ,,, NA NA NA 2504 0.0225 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL832196 CCDS5941.2 7q36.3 2013-02-12 ENSG00000184863 ENSG00000184863 155435 RNA binding motif (RRM) containing 27223 protein-coding gene gene with protein product proline rich 8 PRR8 NA Standard NM_001008408 NM_053043 NA Approved DKFZp686F102, MGC20460, DKFZp434D1319 uc010lqk.1 Q96EV2 OTTHUMG00000150260 ENST00000401878.3:c.*1281C>G chr7.hg19:g.155569016C>G NA A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0 hg19 CCDS5941.2 0.02 4.613267 CTAxGAT COVERED NOVEL RBM33-007 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000317225.3 1 7.523778 KEEP 0 0 0 25 846 CC 0.999931 0.999931 0 + 11 60 411 0 0 29.482332 133 60 4666 198 ENST00000401878.3 0.076389 1 RBM33 155435 __UNKNOWN__ __UNKNOWN__ 7 155571414 155571414 __UNKNOWN__ 3'UTR SNP T T C rs147833837 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:155571414T>C ENST00000401878.3 + 0 7390 RBM33_ENST00000341148.3_3'UTR NM_053043.2 NP_444271.2 Q96EV2 RBM33_HUMAN RNA binding motif protein 33 NA NA nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822) breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 27 all_neural(206;0.101) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.2) GAAGAACTCATCACTCATCAC 0.448 NA T||| 7 0.00139776 0.0 0.0 5008 , , NA 21322 0.0069 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL832196 CCDS5941.2 7q36.3 2013-02-12 ENSG00000184863 ENSG00000184863 155435 RNA binding motif (RRM) containing 27223 protein-coding gene gene with protein product proline rich 8 PRR8 NA Standard NM_001008408 NM_053043 NA Approved DKFZp686F102, MGC20460, DKFZp434D1319 uc010lqk.1 Q96EV2 OTTHUMG00000150260 ENST00000401878.3:c.*3679T>C chr7.hg19:g.155571414T>C NA A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0 hg19 CCDS5941.2 0.02 7.069784 TCAxCAC COVERED NOVEL RBM33-007 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000317225.3 5 13.23956 KEEP 0 0 0 44 1415 TT 1 1 0 + 15 60 553 0 0 39.569001 178 60 6433 279 ENST00000401878.3 0.07772 1 RBM33 155435 __UNKNOWN__ __UNKNOWN__ 7 155571603 155571603 __UNKNOWN__ 3'UTR SNP A A G rs3807890 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:155571603A>G ENST00000401878.3 + 0 7579 RBM33_ENST00000341148.3_3'UTR NM_053043.2 NP_444271.2 Q96EV2 RBM33_HUMAN RNA binding motif protein 33 NA NA nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822) breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 27 all_neural(206;0.101) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.2) TGATGGCAGCATGCTGTGCCG 0.552 NA G||| 1830 0.365415 0.6989 0.2839 5008 , , NA 17126 0.3125 NA 0.1998 False NA ,,, NA NA NA 2504 0.1973 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL832196 CCDS5941.2 7q36.3 2013-02-12 ENSG00000184863 ENSG00000184863 155435 RNA binding motif (RRM) containing 27223 protein-coding gene gene with protein product proline rich 8 PRR8 NA Standard NM_001008408 NM_053043 NA Approved DKFZp686F102, MGC20460, DKFZp434D1319 uc010lqk.1 Q96EV2 OTTHUMG00000150260 ENST00000401878.3:c.*3868A>G chr7.hg19:g.155571603A>G NA A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0 hg19 CCDS5941.2 0.02 8.663315 AGCxTGC COVERED NOVEL RBM33-007 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000317225.3 2 15.345764 KEEP 0 0 0 51 1594 AA 1 1 0 + 9 60 332 0 0 20.883588 228 60 8455 344 ENST00000401878.3 0.037975 1 RBM33 155435 __UNKNOWN__ __UNKNOWN__ 7 155571809 155571809 __UNKNOWN__ 3'UTR SNP C C T rs11520636 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:155571809C>T ENST00000401878.3 + 0 7785 RBM33_ENST00000341148.3_3'UTR NM_053043.2 NP_444271.2 Q96EV2 RBM33_HUMAN RNA binding motif protein 33 NA NA nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822) breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 27 all_neural(206;0.101) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.2) TCCCTCCCTACTTGTAGGCCT 0.483 NA C||| 774 0.154553 0.4728 0.0951 5008 , , NA 17296 0.0198 NA 0.0408 False NA ,,, NA NA NA 2504 0.0225 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL832196 CCDS5941.2 7q36.3 2013-02-12 ENSG00000184863 ENSG00000184863 155435 RNA binding motif (RRM) containing 27223 protein-coding gene gene with protein product proline rich 8 PRR8 NA Standard NM_001008408 NM_053043 NA Approved DKFZp686F102, MGC20460, DKFZp434D1319 uc010lqk.1 Q96EV2 OTTHUMG00000150260 ENST00000401878.3:c.*4074C>T chr7.hg19:g.155571809C>T NA A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0 hg19 CCDS5941.2 0.02 8.908697 CTAxTTG COVERED NOVEL RBM33-007 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000317225.3 6 10.233709 KEEP 0 0 0 34 1244 CC 0.999998 0.999998 0 + 15 60 532 0 0 36.899572 195 60 7348 312 ENST00000401878.3 0.071429 1 RBM33 155435 __UNKNOWN__ __UNKNOWN__ 7 155572706 155572706 __UNKNOWN__ 3'UTR SNP T T C rs2286237 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:155572706T>C ENST00000401878.3 + 0 8682 RBM33_ENST00000341148.3_3'UTR NM_053043.2 NP_444271.2 Q96EV2 RBM33_HUMAN RNA binding motif protein 33 NA NA nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822) breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 27 all_neural(206;0.101) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.2) TTCCATAGAGTGGATAGGCAG 0.269 NA T||| 126 0.0251597 0.0023 0.0519 5008 , , NA 16817 0.0248 NA 0.0388 False NA ,,, NA NA NA 2504 0.0235 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL832196 CCDS5941.2 7q36.3 2013-02-12 ENSG00000184863 ENSG00000184863 155435 RNA binding motif (RRM) containing 27223 protein-coding gene gene with protein product proline rich 8 PRR8 NA Standard NM_001008408 NM_053043 NA Approved DKFZp686F102, MGC20460, DKFZp434D1319 uc010lqk.1 Q96EV2 OTTHUMG00000150260 ENST00000401878.3:c.*4971T>C chr7.hg19:g.155572706T>C NA A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0 hg19 CCDS5941.2 0.02 6.669134 GAGxGGA COVERED NOVEL RBM33-007 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000317225.3 1 4.814829 KEEP 0 0 0 16 512 TT 0.997832 0.997832 0 + 9 60 322 0 0 21.481334 150 60 5402 199 ENST00000401878.3 0.056604 1 SHH 6469 __UNKNOWN__ __UNKNOWN__ 7 155593124 155593124 __UNKNOWN__ 3'UTR SNP A A T rs540242450 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:155593124A>T ENST00000297261.2 - 0 4009 NM_000193.2 NP_000184.1 Q15465 SHH_HUMAN sonic hedgehog NA NA androgen metabolic process (GO:0008209)|apoptotic signaling pathway (GO:0097190)|artery development (GO:0060840)|axon guidance (GO:0007411)|Bergmann glial cell differentiation (GO:0060020)|blood coagulation (GO:0007596)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|branching morphogenesis of an epithelial tube (GO:0048754)|bud outgrowth involved in lung branching (GO:0060447)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway (GO:0060070)|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment (GO:0043369)|cell development (GO:0048468)|cell fate specification (GO:0001708)|cell-cell signaling (GO:0007267)|cellular response to lithium ion (GO:0071285)|central nervous system development (GO:0007417)|cerebellar granule cell precursor proliferation (GO:0021930)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|dorsal/ventral neural tube patterning (GO:0021904)|dorsal/ventral pattern formation (GO:0009953)|ectoderm development (GO:0007398)|embryo development (GO:0009790)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic skeletal system development (GO:0048706)|endocytosis (GO:0006897)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|establishment of cell polarity (GO:0030010)|forebrain development (GO:0030900)|formation of anatomical boundary (GO:0048859)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|hindgut morphogenesis (GO:0007442)|inner ear development (GO:0048839)|intein-mediated protein splicing (GO:0016539)|intermediate filament organization (GO:0045109)|left lung development (GO:0060459)|limb bud formation (GO:0060174)|lung development (GO:0030324)|lung epithelium development (GO:0060428)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|lymphoid progenitor cell differentiation (GO:0002320)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal smoothened signaling pathway involved in prostate gland development (GO:0060783)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|metanephros development (GO:0001656)|midbrain development (GO:0030901)|multicellular structure septum development (GO:0080125)|myoblast differentiation (GO:0045445)|myotube differentiation (GO:0014902)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell migration (GO:0030336)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of kidney smooth muscle cell differentiation (GO:2000357)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ureter smooth muscle cell differentiation (GO:2000062)|negative thymic T cell selection (GO:0045060)|neural crest cell migration (GO:0001755)|neuroblast proliferation (GO:0007405)|neuron fate commitment (GO:0048663)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|organ formation (GO:0048645)|osteoblast development (GO:0002076)|palate development (GO:0060021)|pancreas development (GO:0031016)|pattern specification process (GO:0007389)|patterning of blood vessels (GO:0001569)|polarity specification of anterior/posterior axis (GO:0009949)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of immature T cell proliferation in thymus (GO:0033092)|positive regulation of kidney smooth muscle cell differentiation (GO:2000358)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sclerotome development (GO:0061189)|positive regulation of skeletal muscle cell proliferation (GO:0014858)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of striated muscle cell differentiation (GO:0051155)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureter smooth muscle cell differentiation (GO:2000063)|positive regulation of Wnt signaling pathway (GO:0030177)|positive thymic T cell selection (GO:0045059)|primary prostatic bud elongation (GO:0060516)|prostate epithelial cord elongation (GO:0060523)|prostate gland development (GO:0030850)|protein localization to nucleus (GO:0034504)|regulation of cell proliferation (GO:0042127)|regulation of mesenchymal cell proliferation involved in prostate gland development (GO:0060782)|regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900175)|regulation of odontogenesis (GO:0042481)|regulation of prostatic bud formation (GO:0060685)|regulation of protein localization to nucleus (GO:1900180)|regulation of proteolysis (GO:0030162)|renal system development (GO:0072001)|right lung development (GO:0060458)|salivary gland cavitation (GO:0060662)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|somite development (GO:0061053)|spinal cord dorsal/ventral patterning (GO:0021513)|spinal cord motor neuron differentiation (GO:0021522)|stem cell development (GO:0048864)|striated muscle tissue development (GO:0014706)|T cell differentiation in thymus (GO:0033077)|telencephalon regionalization (GO:0021978)|thalamus development (GO:0021794)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|trachea morphogenesis (GO:0060439)|vasculogenesis (GO:0001570)|ventral midline development (GO:0007418) cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|laminin-1 binding (GO:0043237)|morphogen activity (GO:0016015)|patched binding (GO:0005113)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270) central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 14 all_neural(206;0.101) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.00882) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CCCAGTCACCAGCAGAGTTGC 0.627 NA A||| 2 0.000399361 0.0 0.0 5008 , , NA 17402 0.002 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS5942.1 7q36 2010-06-25 2010-06-25 ENSG00000164690 ENSG00000164690 6469 10848 protein-coding gene gene with protein product 600725 sonic hedgehog (Drosophila) homolog, sonic hedgehog homolog (Drosophila) HPE3, HLP3 NA 7590746 Standard NM_000193 NM_000193 NA Approved HHG1, SMMCI, TPT, TPTPS, MCOPCB5 uc003wmk.1 Q15465 OTTHUMG00000151349 ENST00000297261.2:c.*2470T>A chr7.hg19:g.155593124A>T NA A4D247|Q75MC9 hg19 CCDS5942.1 0.02 4.382081 ACCxGCA COVERED NOVEL SHH-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322327.1 3 3.60967 KEEP 0 0 0 12 354 AA 0.993634 0.993633 0 - 9 60 338 0 0 23.707487 127 60 4738 167 ENST00000297261.2 0.066176 1 UBE3C 9690 __UNKNOWN__ __UNKNOWN__ 7 157061642 157061642 __UNKNOWN__ 3'UTR SNP C C A rs7807 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:157061642C>A ENST00000348165.5 + 0 4805 NM_014671.2 NP_055486.2 Q15386 UBE3C_HUMAN ubiquitin protein ligase E3C NA NA protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787) cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502) ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842) central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1) 63 all_hematologic(28;0.0185)|all_epithelial(9;0.0664) OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.19) TTCTATGTCTCGTATTTTACT 0.423 NA A||| 3582 0.715256 0.7247 0.7363 5008 , , NA 17186 0.619 NA 0.7724 False NA ,,, NA NA NA 2504 0.728 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK127280 CCDS34789.1 7q36.3 2004-05-04 ENSG00000009335 ENSG00000009335 9690 16803 protein-coding gene gene with protein product 614454 NA 7584026, 11278995 Standard NM_014671 NM_014671 NA Approved KIAA0010, KIAA10 uc010lqs.3 Q15386 OTTHUMG00000157239 ENST00000348165.5:c.*1193C>A chr7.hg19:g.157061642C>A NA A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3 hg19 CCDS34789.1 0.02 3.792229 TCTxGTA COVERED NOVEL UBE3C-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000348108.1 2 6.921715 KEEP 0 0 0 23 769 CC 0.999892 0.999892 0 + 6 60 204 0 0 12.611711 129 60 4553 186 ENST00000348165.5 0.044444 1 DNAJB6 10049 __UNKNOWN__ __UNKNOWN__ 7 157148105 157148105 __UNKNOWN__ Intron SNP C C T rs112319068 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:157148105C>T ENST00000429029.2 + 2 179 DNAJB6_ENST00000452797.2_Intron|DNAJB6_ENST00000262177.4_Intron|DNAJB6_ENST00000443280.1_Intron NM_005494.2 NP_005485.1 O75190 DNJB6_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 6 NA NA intermediate filament organization (GO:0045109)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457) cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018) ATPase activator activity (GO:0001671)|chaperone binding (GO:0051087)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082) central_nervous_system(1)|lung(1)|ovary(2)|stomach(1) 5 all_neural(206;0.181) all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196) OV - Ovarian serous cystadenocarcinoma(82;0.00399) UCEC - Uterine corpus endometrioid carcinoma (81;0.172) ctgcccgcctcggcctcccaa 0.557 NA -||| 309 0.0617013 0.0303 0.0216 5008 , , NA 16964 0.2183 NA 0.0099 False NA ,,, NA NA NA 2504 0.0245 NA NA NA Esophageal Squamous(46;195 967 1350 20350 43814) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB014888 CCDS5946.1, CCDS47755.1 7q36.3 2014-02-03 ENSG00000105993 ENSG00000105993 10049 Heat shock proteins / DNAJ (HSP40) 14888 protein-coding gene gene with protein product 611332 limb girdle muscular dystrophy 1D (autosomal dominant) LGMD1D NA 10319584, 9915854, 22366786 Standard NM_005494 NA Approved MRJ uc003wnk.3 O75190 OTTHUMG00000157242 ENST00000429029.2:c.-26-3136C>T chr7.hg19:g.157148105C>T NA A4D232|A8K7D8|A8KAG0|B4DN73|E9PCZ2|O95806|Q53EN8|Q59EF2|Q6FIC8|Q75MA2|Q9UIK6 hg19 CCDS47755.1 0.02 -0.096504 CCTxGGC UNCOVERED NOVEL DNAJB6-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000348120.1 2 3.61172 KEEP 1 0 0 12 419 CC 0.993072 0.119602 0 + 2 45 78 0 0 6.48931 9 60 328 34 ENST00000429029.2 0.181818 0.120436 DNAJB6 10049 __UNKNOWN__ __UNKNOWN__ 7 157151376 157151376 __UNKNOWN__ Intron SNP A A G rs3802099 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:157151376A>G ENST00000429029.2 + 2 270 DNAJB6_ENST00000452797.2_Intron|DNAJB6_ENST00000262177.4_Intron|DNAJB6_ENST00000443280.1_Intron NM_005494.2 NP_005485.1 O75190 DNJB6_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 6 NA NA intermediate filament organization (GO:0045109)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457) cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018) ATPase activator activity (GO:0001671)|chaperone binding (GO:0051087)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082) central_nervous_system(1)|lung(1)|ovary(2)|stomach(1) 5 all_neural(206;0.181) all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196) OV - Ovarian serous cystadenocarcinoma(82;0.00399) UCEC - Uterine corpus endometrioid carcinoma (81;0.172) ACAGTGGTACATTGGTAATTG 0.363 NA a||| 316 0.063099 0.0318 0.0216 5008 , , NA 22520 0.2212 NA 0.0099 False NA ,,, NA NA NA 2504 0.0266 NA NA NA Esophageal Squamous(46;195 967 1350 20350 43814) NA 0 A , 118,4288 89.2+/-127.9 1,116,2086 66 63 64 , -7.5 0 7 dbSNP_107 64 20,8580 14.6+/-50.1 0,20,4280 no intron,intron DNAJB6 NM_005494.2,NM_058246.3 , 1,136,6366 GG,GA,AA 0.2326,2.6782,1.061 , , 157151376 138,12868 2203 4300 6503 SO:0001627 intron_variant AB014888 CCDS5946.1, CCDS47755.1 7q36.3 2014-02-03 ENSG00000105993 ENSG00000105993 10049 Heat shock proteins / DNAJ (HSP40) 14888 protein-coding gene gene with protein product 611332 limb girdle muscular dystrophy 1D (autosomal dominant) LGMD1D NA 10319584, 9915854, 22366786 Standard NM_005494 NA Approved MRJ uc003wnk.3 O75190 OTTHUMG00000157242 ENST00000429029.2:c.65+45A>G chr7.hg19:g.157151376A>G NA A4D232|A8K7D8|A8KAG0|B4DN73|E9PCZ2|O95806|Q53EN8|Q59EF2|Q6FIC8|Q75MA2|Q9UIK6 hg19 CCDS47755.1 0.02 17.334008 TACxTTG COVERED NOVEL DNAJB6-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000348120.1 2 24.371527 KEEP 0 0 0 81 2503 AA 1 1 0 + 23 60 843 0 0 56.061583 418 60 15538 635 ENST00000429029.2 0.052154 1 DNAJB6 10049 __UNKNOWN__ __UNKNOWN__ 7 157161978 157161978 __UNKNOWN__ Intron SNP C C T rs148202415 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:157161978C>T ENST00000429029.2 + 5 551 DNAJB6_ENST00000452797.2_Intron|DNAJB6_ENST00000262177.4_Intron|DNAJB6_ENST00000443280.1_Intron NM_005494.2 NP_005485.1 O75190 DNJB6_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 6 NA NA intermediate filament organization (GO:0045109)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457) cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018) ATPase activator activity (GO:0001671)|chaperone binding (GO:0051087)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082) central_nervous_system(1)|lung(1)|ovary(2)|stomach(1) 5 all_neural(206;0.181) all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196) OV - Ovarian serous cystadenocarcinoma(82;0.00399) UCEC - Uterine corpus endometrioid carcinoma (81;0.172) AAATAATTTACGGATTGATCT 0.413 NA C||| 17 0.00339457 0.0 0.0 5008 , , NA 20331 0.0169 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA Esophageal Squamous(46;195 967 1350 20350 43814) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB014888 CCDS5946.1, CCDS47755.1 7q36.3 2014-02-03 ENSG00000105993 ENSG00000105993 10049 Heat shock proteins / DNAJ (HSP40) 14888 protein-coding gene gene with protein product 611332 limb girdle muscular dystrophy 1D (autosomal dominant) LGMD1D NA 10319584, 9915854, 22366786 Standard NM_005494 NA Approved MRJ uc003wnk.3 O75190 OTTHUMG00000157242 ENST00000429029.2:c.346+1801C>T chr7.hg19:g.157161978C>T NA A4D232|A8K7D8|A8KAG0|B4DN73|E9PCZ2|O95806|Q53EN8|Q59EF2|Q6FIC8|Q75MA2|Q9UIK6 hg19 CCDS47755.1 0.02 3.730797 TTAxGGA COVERED NOVEL DNAJB6-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000348120.1 1 10.533632 KEEP 0 0 0 35 1202 CC 0.999999 0.999998 0 + 7 60 250 0 0 16.231205 135 60 4901 206 ENST00000429029.2 0.049296 1 DNAJB6 10049 __UNKNOWN__ __UNKNOWN__ 7 157162035 157162035 __UNKNOWN__ Intron SNP T T G rs73503270 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:157162035T>G ENST00000429029.2 + 5 551 DNAJB6_ENST00000452797.2_Intron|DNAJB6_ENST00000262177.4_Intron|DNAJB6_ENST00000443280.1_Intron NM_005494.2 NP_005485.1 O75190 DNJB6_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 6 NA NA intermediate filament organization (GO:0045109)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457) cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018) ATPase activator activity (GO:0001671)|chaperone binding (GO:0051087)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082) central_nervous_system(1)|lung(1)|ovary(2)|stomach(1) 5 all_neural(206;0.181) all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196) OV - Ovarian serous cystadenocarcinoma(82;0.00399) UCEC - Uterine corpus endometrioid carcinoma (81;0.172) TTCAGCAAACTGCATTTGTTG 0.438 NA T||| 335 0.066893 0.0378 0.0216 5008 , , NA 20014 0.2331 NA 0.0099 False NA ,,, NA NA NA 2504 0.0256 NA NA NA Esophageal Squamous(46;195 967 1350 20350 43814) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB014888 CCDS5946.1, CCDS47755.1 7q36.3 2014-02-03 ENSG00000105993 ENSG00000105993 10049 Heat shock proteins / DNAJ (HSP40) 14888 protein-coding gene gene with protein product 611332 limb girdle muscular dystrophy 1D (autosomal dominant) LGMD1D NA 10319584, 9915854, 22366786 Standard NM_005494 NA Approved MRJ uc003wnk.3 O75190 OTTHUMG00000157242 ENST00000429029.2:c.346+1858T>G chr7.hg19:g.157162035T>G NA A4D232|A8K7D8|A8KAG0|B4DN73|E9PCZ2|O95806|Q53EN8|Q59EF2|Q6FIC8|Q75MA2|Q9UIK6 hg19 CCDS47755.1 0.02 8.354186 AACxGCA COVERED NOVEL DNAJB6-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000348120.1 0 15.346752 KEEP 0 0 0 51 1625 TT 1 1 0 + 12 60 414 0 0 27.315948 192 60 7191 333 ENST00000429029.2 0.058824 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 157234112 157234112 __UNKNOWN__ IGR SNP G G A rs11977865 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:157234112G>A NA NA DNAJB6 (23979 upstream) : AC006372.4 (24812 downstream) NA NA NA GGCTGTTCTGGGCGGCGCCTG 0.667 NA G||| 1529 0.305312 0.292 0.2709 5008 , , NA 12146 0.2788 NA 0.4195 False NA ,,, NA NA NA 2504 0.2577 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.157234112G>A NA hg19 0.02 6.857363 CTGxGCG COVERED NOVEL 0 2 9.931627 KEEP 0 0 0 33 1144 GG 0.999998 0.999998 0 9 60 318 0 0 20.529687 174 60 6345 267 0.04918 1 PTPRN2 5799 __UNKNOWN__ __UNKNOWN__ 7 157333376 157333376 __UNKNOWN__ 3'UTR SNP G G A rs1122307 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:157333376G>A ENST00000389418.4 - 0 3089 PTPRN2_ENST00000409483.1_3'UTR|PTPRN2_ENST00000389416.4_3'UTR|PTPRN2_ENST00000389413.3_3'UTR NM_002847.3 NP_002838.2 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N polypeptide 2 NA NA negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470) endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195) transmembrane receptor protein tyrosine phosphatase activity (GO:0005001) NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 86 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) TCCGTGGGGTGGGGGCTCCCC 0.562 NA G||| 455 0.0908546 0.0567 0.1138 5008 , , NA 14153 0.1379 NA 0.0656 False NA ,,, NA NA NA 2504 0.0982 NA NA NA NA 0 ,, 226,4086 7,212,1937 10 12 11 ,, -2.8 0 7 dbSNP_86 11 600,7872 27,546,3663 no utr-3,utr-3,utr-3 PTPRN2 NM_002847.3,NM_130842.2,NM_130843.2 ,, 34,758,5600 AA,AG,GG 7.0822,5.2412,6.4612 ,, ,, 157333376 826,11958 2156 4236 6392 SO:0001624 3_prime_UTR_variant AB002385 CCDS5947.1, CCDS5948.1, CCDS5949.1 7q36 2011-06-09 ENSG00000155093 ENSG00000155093 5799 Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like 9677 protein-coding gene gene with protein product IAR PTPRP 601698 NA 8954911, 9220540 Standard NM_130842 NA Approved KIAA0387, phogrin, ICAAR, IA-2beta uc003wno.3 Q92932 OTTHUMG00000152646 ENST00000389418.4:c.*32C>T chr7.hg19:g.157333376G>A NA E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6 hg19 CCDS5947.1 0.02 17.235112 GGTxGGG COVERED NOVEL PTPRN2-005 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000353214.1 2 14.446698 KEEP 0 0 0 48 1698 GG 1 1 0 - 25 60 889 0 0 59.155379 416 60 15420 607 ENST00000389418.4 0.056689 1 PTPRN2 5799 __UNKNOWN__ __UNKNOWN__ 7 157903498 157903498 __UNKNOWN__ Intron SNP A A G rs17847430 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:157903498A>G ENST00000389418.4 - 10 1653 PTPRN2_ENST00000409483.1_Intron|PTPRN2_ENST00000404321.2_Intron|PTPRN2_ENST00000389416.4_Intron|PTPRN2_ENST00000389413.3_Intron NM_002847.3 NP_002838.2 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N polypeptide 2 NA NA negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470) endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195) transmembrane receptor protein tyrosine phosphatase activity (GO:0005001) NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 86 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) AGCCAAACAGAAACCCCAGGG 0.607 NA G||| 326 0.0650958 0.1104 0.0072 5008 , , NA 16797 0.1141 NA 0.0 False NA ,,, NA NA NA 2504 0.0613 NA NA NA NA 0 ,, 277,4039 10,257,1891 38 26 30 ,, -7.7 0 7 dbSNP_123 30 3,8531 0,3,4264 no intron,intron,intron PTPRN2 NM_002847.3,NM_130842.2,NM_130843.2 ,, 10,260,6155 GG,GA,AA 0.0352,6.418,2.179 ,, ,, 157903498 280,12570 2158 4267 6425 SO:0001627 intron_variant AB002385 CCDS5947.1, CCDS5948.1, CCDS5949.1 7q36 2011-06-09 ENSG00000155093 ENSG00000155093 5799 Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like 9677 protein-coding gene gene with protein product IAR PTPRP 601698 NA 8954911, 9220540 Standard NM_130842 NA Approved KIAA0387, phogrin, ICAAR, IA-2beta uc003wno.3 Q92932 OTTHUMG00000152646 ENST00000389418.4:c.1643+22T>C chr7.hg19:g.157903498A>G NA E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6 hg19 CCDS5947.1 0.02 14.117099 CAGxAAC COVERED NOVEL PTPRN2-005 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000353214.1 2 15.64385 KEEP 0 0 0 52 1600 AA 1 1 0 - 17 60 625 0 0 41.869575 299 60 10708 499 ENST00000389418.4 0.053797 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 158415033 158415033 __UNKNOWN__ IGR SNP T T G rs56821222 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:158415033T>G NA NA MIR5707 (30645 upstream) : NCAPG2 (8969 downstream) NA NA NA TTTCTTCAGATAGCCAGTTTT 0.333 NA T||| 1137 0.227037 0.1952 0.2536 5008 , , NA 18340 0.3869 NA 0.0915 False NA ,,, NA NA NA 2504 0.226 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.158415033T>G NA hg19 0.02 21.718412 AGAxAGC COVERED NOVEL 0 1 12.636878 KEEP 0 0 0 42 1312 TT 1 1 0 36 60 1334 0 0 94.527464 462 60 16879 636 0.072289 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 7 158415690 158415690 __UNKNOWN__ IGR SNP T T A rs144130573 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:158415690T>A NA NA MIR5707 (31302 upstream) : NCAPG2 (8312 downstream) NA NA NA GTATACTTCCTGTTTTGGGAG 0.353 NA T||| 919 0.183506 0.0348 0.2406 5008 , , NA 18642 0.3919 NA 0.0905 False NA ,,, NA NA NA 2504 0.2249 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr7.hg19:g.158415690T>A NA hg19 0.02 24.365518 TCCxGTT COVERED NOVEL 0 5 17.152484 KEEP 37 0 0 57 1818 TT 1 1 0 39 60 1460 0 0 104.706343 474 60 17588 697 0.076023 1 NCAPG2 54892 __UNKNOWN__ __UNKNOWN__ 7 158433916 158433916 __UNKNOWN__ Intron SNP T T C rs12670677 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:158433916T>C ENST00000409423.1 - 28 3553 NCAPG2_ENST00000541468.1_Intron|NCAPG2_ENST00000356309.3_Intron|NCAPG2_ENST00000409339.3_3'UTR|NCAPG2_ENST00000275830.10_Intron NM_001281932.1 NP_001268861.1 Q86XI2 CNDG2_HUMAN non-SMC condensin II complex, subunit G2 NA NA chromosome condensation (GO:0030261)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067) membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) methylated histone binding (GO:0035064) NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 39 Ovarian(565;0.152) all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18) aagacagaaataggaacaaat 0.299 NA T||| 928 0.185304 0.0666 0.1801 5008 , , NA 19706 0.4038 NA 0.0915 False NA ,,, NA NA NA 2504 0.2209 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC043404 CCDS43686.1, CCDS64816.1 7q36.3 2006-09-04 2006-09-04 2006-09-04 ENSG00000146918 ENSG00000146918 54892 21904 protein-coding gene gene with protein product 608532 leucine zipper protein 5 LUZP5 NA 14532007 Standard NM_017760 NM_001281933 NA Approved FLJ20311, MTB, CAP-G2, hCAP-G2 uc003wnv.1 Q86XI2 OTTHUMG00000151438 ENST00000409423.1:c.3380+3064A>G chr7.hg19:g.158433916T>C NA A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6 hg19 CCDS43686.1 0.02 4.787082 AAAxAGG COVERED NOVEL NCAPG2-004 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000327111.1 1 6.318958 KEEP 0 0 0 21 670 TT 0.999869 0.999868 0 - 16 60 621 0 0 49.028299 108 60 3867 178 ENST00000409423.1 0.129032 0.999999 NCAPG2 54892 __UNKNOWN__ __UNKNOWN__ 7 158457458 158457458 __UNKNOWN__ Intron SNP A A G rs3816466 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:158457458A>G ENST00000409423.1 - 15 1652 NCAPG2_ENST00000541468.1_Intron|NCAPG2_ENST00000356309.3_Intron|NCAPG2_ENST00000449727.2_Intron|NCAPG2_ENST00000409339.3_Intron|NCAPG2_ENST00000275830.10_Intron NM_001281932.1 NP_001268861.1 Q86XI2 CNDG2_HUMAN non-SMC condensin II complex, subunit G2 NA NA chromosome condensation (GO:0030261)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067) membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) methylated histone binding (GO:0035064) NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 39 Ovarian(565;0.152) all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18) CAAAAAGCACATATGCAGAAG 0.393 NA A||| 1737 0.346845 0.3328 0.3343 5008 , , NA 16949 0.4137 NA 0.2684 False NA ,,, NA NA NA 2504 0.3865 NA NA NA NA 0 1200,2596 173,854,871 32 32 32 0.5 0 7 dbSNP_107 32 2347,5907 321,1705,2101 no intron NCAPG2 NM_017760.5 494,2559,2972 GG,GA,AA 28.4347,31.6122,29.4357 158457458 3547,8503 1898 4127 6025 SO:0001627 intron_variant BC043404 CCDS43686.1, CCDS64816.1 7q36.3 2006-09-04 2006-09-04 2006-09-04 ENSG00000146918 ENSG00000146918 54892 21904 protein-coding gene gene with protein product 608532 leucine zipper protein 5 LUZP5 NA 14532007 Standard NM_017760 NM_001281933 NA Approved FLJ20311, MTB, CAP-G2, hCAP-G2 uc003wnv.1 Q86XI2 OTTHUMG00000151438 ENST00000409423.1:c.1480-16T>C chr7.hg19:g.158457458A>G NA A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6 hg19 CCDS43686.1 0.02 7.077796 CACxTAT COVERED NOVEL NCAPG2-004 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000327111.1 2 14.141834 KEEP 0 0 0 47 1455 AA 1 1 0 - 22 60 819 0 0 62.716673 170 60 6335 298 ENST00000409423.1 0.114583 1 ESYT2 57488 __UNKNOWN__ __UNKNOWN__ 7 158523888 158523888 __UNKNOWN__ 3'UTR SNP T T C rs2013|rs386720372 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:158523888T>C ENST00000251527.5 - 0 5757 NM_020728.2 NP_065779.1 A0FGR8 ESYT2_HUMAN extended synaptotagmin-like protein 2 NA NA endocytosis (GO:0006897)|lipid transport (GO:0006869) extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232) calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2) 32 ATTTGGCTTATGTGCCTGAAA 0.443 NA C||| 1884 0.376198 0.4962 0.2666 5008 , , NA 17149 0.5972 NA 0.169 False NA ,,, NA NA NA 2504 0.2771 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB033054 CCDS34791.1 7q36.3 2014-07-02 2009-06-23 2009-06-23 ENSG00000117868 ENSG00000117868 57488 Synaptotagmins 22211 protein-coding gene gene with protein product family with sequence similarity 62 (C2 domain containing), member B FAM62B NA 17672888 Standard NM_020728 NM_020728 NA Approved KIAA1228, CHR2SYT uc003wob.1 A0FGR8 OTTHUMG00000151436 ENST00000251527.5:c.*3010A>G chr7.hg19:g.158523888T>C NA A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2 hg19 CCDS34791.1 0.02 4.776104 TTAxGTG COVERED NOVEL ESYT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322647.1 2 15.648391 KEEP 0 0 0 52 1668 TT 1 0.999996 0 - 10 60 382 0 0 28.303501 103 70 3757 207 ENST00000251527.5 0.088496 0.999996 ESYT2 57488 __UNKNOWN__ __UNKNOWN__ 7 158523889 158523889 __UNKNOWN__ 3'UTR SNP G G A rs386720372|rs1062119 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:158523889G>A ENST00000251527.5 - 0 5756 NM_020728.2 NP_065779.1 A0FGR8 ESYT2_HUMAN extended synaptotagmin-like protein 2 NA NA endocytosis (GO:0006897)|lipid transport (GO:0006869) extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232) calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2) 32 TTTGGCTTATGTGCCTGAAAA 0.443 NA G||| 1369 0.273363 0.3003 0.2017 5008 , , NA 17115 0.5516 NA 0.0656 False NA ,,, NA NA NA 2504 0.2147 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB033054 CCDS34791.1 7q36.3 2014-07-02 2009-06-23 2009-06-23 ENSG00000117868 ENSG00000117868 57488 Synaptotagmins 22211 protein-coding gene gene with protein product family with sequence similarity 62 (C2 domain containing), member B FAM62B NA 17672888 Standard NM_020728 NM_020728 NA Approved KIAA1228, CHR2SYT uc003wob.1 A0FGR8 OTTHUMG00000151436 ENST00000251527.5:c.*3009C>T chr7.hg19:g.158523889G>A NA A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2 hg19 CCDS34791.1 0.02 4.485239 TATxTGC COVERED NOVEL ESYT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322647.1 2 15.95202 KEEP 0 0 0 53 1900 GG 1 0.999995 0 - 10 60 372 0 0 27.344135 102 70 3742 207 ENST00000251527.5 0.089286 0.999995 ESYT2 57488 __UNKNOWN__ __UNKNOWN__ 7 158524204 158524204 __UNKNOWN__ 3'UTR SNP G G A rs57033874 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:158524204G>A ENST00000251527.5 - 0 5441 NM_020728.2 NP_065779.1 A0FGR8 ESYT2_HUMAN extended synaptotagmin-like protein 2 NA NA endocytosis (GO:0006897)|lipid transport (GO:0006869) extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232) calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2) 32 ctccatgttggccaggctggt 0.597 NA G||| 1132 0.226038 0.2126 0.1931 5008 , , NA 12690 0.4444 NA 0.0666 False NA ,,, NA NA NA 2504 0.2065 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB033054 CCDS34791.1 7q36.3 2014-07-02 2009-06-23 2009-06-23 ENSG00000117868 ENSG00000117868 57488 Synaptotagmins 22211 protein-coding gene gene with protein product family with sequence similarity 62 (C2 domain containing), member B FAM62B NA 17672888 Standard NM_020728 NM_020728 NA Approved KIAA1228, CHR2SYT uc003wob.1 A0FGR8 OTTHUMG00000151436 ENST00000251527.5:c.*2694C>T chr7.hg19:g.158524204G>A NA A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2 hg19 CCDS34791.1 0.02 1.947638 TTGxCCA COVERED NOVEL ESYT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322647.1 3 7.177053 KEEP 1 0 0 24 781 GG 0.999909 0.997807 0 - 5 60 180 0 0 12.502072 67 60 2355 100 ENST00000251527.5 0.069444 0.997898 ESYT2 57488 __UNKNOWN__ __UNKNOWN__ 7 158524504 158524504 __UNKNOWN__ 3'UTR SNP G G A rs34291123 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:158524504G>A ENST00000251527.5 - 0 5141 NM_020728.2 NP_065779.1 A0FGR8 ESYT2_HUMAN extended synaptotagmin-like protein 2 NA NA endocytosis (GO:0006897)|lipid transport (GO:0006869) extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232) calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2) 32 GAAAATTAACGTTTTGACAAC 0.408 NA G||| 1427 0.284944 0.3359 0.2147 5008 , , NA 18439 0.5506 NA 0.0676 False NA ,,, NA NA NA 2504 0.2157 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB033054 CCDS34791.1 7q36.3 2014-07-02 2009-06-23 2009-06-23 ENSG00000117868 ENSG00000117868 57488 Synaptotagmins 22211 protein-coding gene gene with protein product family with sequence similarity 62 (C2 domain containing), member B FAM62B NA 17672888 Standard NM_020728 NM_020728 NA Approved KIAA1228, CHR2SYT uc003wob.1 A0FGR8 OTTHUMG00000151436 ENST00000251527.5:c.*2394C>T chr7.hg19:g.158524504G>A NA A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2 hg19 CCDS34791.1 0.02 4.047861 AACxTTT COVERED NOVEL ESYT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322647.1 1 8.425335 KEEP 0 0 0 28 912 GG 0.999997 0.999997 0 - 12 60 429 0 0 30.886717 127 60 4319 184 ENST00000251527.5 0.086331 1 ESYT2 57488 __UNKNOWN__ __UNKNOWN__ 7 158524530 158524530 __UNKNOWN__ 3'UTR SNP A A G rs13229349 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:158524530A>G ENST00000251527.5 - 0 5115 NM_020728.2 NP_065779.1 A0FGR8 ESYT2_HUMAN extended synaptotagmin-like protein 2 NA NA endocytosis (GO:0006897)|lipid transport (GO:0006869) extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232) calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2) 32 AGTGTCTGACATCGCTGGGAT 0.433 NA A||| 1807 0.360823 0.4402 0.2608 5008 , , NA 18854 0.5962 NA 0.17 False NA ,,, NA NA NA 2504 0.2781 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB033054 CCDS34791.1 7q36.3 2014-07-02 2009-06-23 2009-06-23 ENSG00000117868 ENSG00000117868 57488 Synaptotagmins 22211 protein-coding gene gene with protein product family with sequence similarity 62 (C2 domain containing), member B FAM62B NA 17672888 Standard NM_020728 NM_020728 NA Approved KIAA1228, CHR2SYT uc003wob.1 A0FGR8 OTTHUMG00000151436 ENST00000251527.5:c.*2368T>C chr7.hg19:g.158524530A>G NA A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2 hg19 CCDS34791.1 0.02 3.9654 GACxTCG COVERED NOVEL ESYT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322647.1 1 12.335972 KEEP 0 0 0 41 1281 AA 1 1 0 - 12 60 381 0 0 26.183692 125 60 4515 210 ENST00000251527.5 0.087591 1 ESYT2 57488 __UNKNOWN__ __UNKNOWN__ 7 158524651 158524651 __UNKNOWN__ 3'UTR SNP T T C rs13232511 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:158524651T>C ENST00000251527.5 - 0 4994 NM_020728.2 NP_065779.1 A0FGR8 ESYT2_HUMAN extended synaptotagmin-like protein 2 NA NA endocytosis (GO:0006897)|lipid transport (GO:0006869) extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232) calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2) 32 AGGCAGCTACTGGAGGCCAAG 0.587 NA T||| 1807 0.360823 0.4402 0.2608 5008 , , NA 15655 0.5962 NA 0.17 False NA ,,, NA NA NA 2504 0.2781 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB033054 CCDS34791.1 7q36.3 2014-07-02 2009-06-23 2009-06-23 ENSG00000117868 ENSG00000117868 57488 Synaptotagmins 22211 protein-coding gene gene with protein product family with sequence similarity 62 (C2 domain containing), member B FAM62B NA 17672888 Standard NM_020728 NM_020728 NA Approved KIAA1228, CHR2SYT uc003wob.1 A0FGR8 OTTHUMG00000151436 ENST00000251527.5:c.*2247A>G chr7.hg19:g.158524651T>C NA A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2 hg19 CCDS34791.1 0.02 6.528039 TACxGGA COVERED NOVEL ESYT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322647.1 1 18.956567 KEEP 0 0 0 63 1973 TT 1 1 0 - 7 60 235 0 0 14.176988 163 60 6110 289 ENST00000251527.5 0.041176 1 ESYT2 57488 __UNKNOWN__ __UNKNOWN__ 7 158524763 158524763 __UNKNOWN__ 3'UTR SNP A A G rs3763406|rs558512643 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:158524763A>G ENST00000251527.5 - 0 4882 NM_020728.2 NP_065779.1 A0FGR8 ESYT2_HUMAN extended synaptotagmin-like protein 2 NA NA endocytosis (GO:0006897)|lipid transport (GO:0006869) extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232) calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2) 32 TTGTACCTTTAATTGTGTCTA 0.507 NA A||| 1807 0.360823 0.4402 0.2608 5008 , , NA 18742 0.5962 NA 0.17 False NA ,,, NA NA NA 2504 0.2781 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB033054 CCDS34791.1 7q36.3 2014-07-02 2009-06-23 2009-06-23 ENSG00000117868 ENSG00000117868 57488 Synaptotagmins 22211 protein-coding gene gene with protein product family with sequence similarity 62 (C2 domain containing), member B FAM62B NA 17672888 Standard NM_020728 NM_020728 NA Approved KIAA1228, CHR2SYT uc003wob.1 A0FGR8 OTTHUMG00000151436 ENST00000251527.5:c.*2135T>C chr7.hg19:g.158524763A>G NA A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2 hg19 CCDS34791.1 0.02 7.388367 TTTxATT COVERED NOVEL ESYT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322647.1 3 10.831236 KEEP 0 0 0 36 1099 AA 0.999999 0.999999 0 - 12 60 452 0 0 32.156615 156 60 5531 239 ENST00000251527.5 0.071429 1 ESYT2 57488 __UNKNOWN__ __UNKNOWN__ 7 158524830 158524830 __UNKNOWN__ 3'UTR SNP T T C rs3763409 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:158524830T>C ENST00000251527.5 - 0 4815 NM_020728.2 NP_065779.1 A0FGR8 ESYT2_HUMAN extended synaptotagmin-like protein 2 NA NA endocytosis (GO:0006897)|lipid transport (GO:0006869) extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232) calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2) 32 ATGGAGCGGATTACACACTGG 0.403 NA T||| 1807 0.360823 0.4402 0.2608 5008 , , NA 21091 0.5962 NA 0.17 False NA ,,, NA NA NA 2504 0.2781 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB033054 CCDS34791.1 7q36.3 2014-07-02 2009-06-23 2009-06-23 ENSG00000117868 ENSG00000117868 57488 Synaptotagmins 22211 protein-coding gene gene with protein product family with sequence similarity 62 (C2 domain containing), member B FAM62B NA 17672888 Standard NM_020728 NM_020728 NA Approved KIAA1228, CHR2SYT uc003wob.1 A0FGR8 OTTHUMG00000151436 ENST00000251527.5:c.*2068A>G chr7.hg19:g.158524830T>C NA A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2 hg19 CCDS34791.1 0.02 4.969635 GGAxTAC COVERED NOVEL ESYT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322647.1 1 8.425168 KEEP 0 0 0 28 893 TT 0.999997 0.999997 0 - 13 60 489 0 0 36.940252 113 60 4075 181 ENST00000251527.5 0.103175 1 ESYT2 57488 __UNKNOWN__ __UNKNOWN__ 7 158525061 158525061 __UNKNOWN__ 3'UTR SNP G G A rs3763410 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:158525061G>A ENST00000251527.5 - 0 4584 NM_020728.2 NP_065779.1 A0FGR8 ESYT2_HUMAN extended synaptotagmin-like protein 2 NA NA endocytosis (GO:0006897)|lipid transport (GO:0006869) extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232) calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2) 32 ATACATGTTCGTATTTGTCTA 0.333 NA g||| 1812 0.361821 0.4402 0.2622 5008 , , NA 19762 0.5962 NA 0.174 False NA ,,, NA NA NA 2504 0.2781 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB033054 CCDS34791.1 7q36.3 2014-07-02 2009-06-23 2009-06-23 ENSG00000117868 ENSG00000117868 57488 Synaptotagmins 22211 protein-coding gene gene with protein product family with sequence similarity 62 (C2 domain containing), member B FAM62B NA 17672888 Standard NM_020728 NM_020728 NA Approved KIAA1228, CHR2SYT uc003wob.1 A0FGR8 OTTHUMG00000151436 ENST00000251527.5:c.*1837C>T chr7.hg19:g.158525061G>A NA A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2 hg19 CCDS34791.1 0.02 9.265601 TTCxTAT COVERED NOVEL ESYT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322647.1 1 12.339114 KEEP 0 0 0 41 1396 GG 1 1 0 - 8 60 306 0 0 19.205395 231 60 8089 333 ENST00000251527.5 0.033473 1 ESYT2 57488 __UNKNOWN__ __UNKNOWN__ 7 158525065 158525065 __UNKNOWN__ 3'UTR SNP T T G rs3763411 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:158525065T>G ENST00000251527.5 - 0 4580 NM_020728.2 NP_065779.1 A0FGR8 ESYT2_HUMAN extended synaptotagmin-like protein 2 NA NA endocytosis (GO:0006897)|lipid transport (GO:0006869) extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232) calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2) 32 ATGTTCGTATTTGTCTATAAA 0.333 NA G||| 1807 0.360823 0.4402 0.2608 5008 , , NA 19777 0.5962 NA 0.17 False NA ,,, NA NA NA 2504 0.2781 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB033054 CCDS34791.1 7q36.3 2014-07-02 2009-06-23 2009-06-23 ENSG00000117868 ENSG00000117868 57488 Synaptotagmins 22211 protein-coding gene gene with protein product family with sequence similarity 62 (C2 domain containing), member B FAM62B NA 17672888 Standard NM_020728 NM_020728 NA Approved KIAA1228, CHR2SYT uc003wob.1 A0FGR8 OTTHUMG00000151436 ENST00000251527.5:c.*1833A>C chr7.hg19:g.158525065T>G NA A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2 hg19 CCDS34791.1 0.02 9.964972 TATxTGT COVERED NOVEL ESYT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322647.1 1 11.433975 KEEP 0 0 0 38 1196 TT 1 1 0 - 9 60 341 0 0 21.752401 230 60 8243 332 ENST00000251527.5 0.037657 1 ESYT2 57488 __UNKNOWN__ __UNKNOWN__ 7 158525166 158525166 __UNKNOWN__ 3'UTR SNP G G A rs1061620 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:158525166G>A ENST00000251527.5 - 0 4479 NM_020728.2 NP_065779.1 A0FGR8 ESYT2_HUMAN extended synaptotagmin-like protein 2 NA NA endocytosis (GO:0006897)|lipid transport (GO:0006869) extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232) calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2) 32 TCAGCAGGAGGGAATATACTG 0.338 NA A||| 1813 0.362021 0.4448 0.2608 5008 , , NA 19283 0.5962 NA 0.17 False NA ,,, NA NA NA 2504 0.2781 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB033054 CCDS34791.1 7q36.3 2014-07-02 2009-06-23 2009-06-23 ENSG00000117868 ENSG00000117868 57488 Synaptotagmins 22211 protein-coding gene gene with protein product family with sequence similarity 62 (C2 domain containing), member B FAM62B NA 17672888 Standard NM_020728 NM_020728 NA Approved KIAA1228, CHR2SYT uc003wob.1 A0FGR8 OTTHUMG00000151436 ENST00000251527.5:c.*1732C>T chr7.hg19:g.158525166G>A NA A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2 hg19 CCDS34791.1 0.02 11.984463 GAGxGAA COVERED NOVEL ESYT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322647.1 1 16.854457 KEEP 0 0 0 56 1960 GG 1 1 0 - 32 60 1179 0 0 91.236889 225 60 8139 389 ENST00000251527.5 0.124514 1 ESYT2 57488 __UNKNOWN__ __UNKNOWN__ 7 158525891 158525891 __UNKNOWN__ 3'UTR SNP G G C rs34119683 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:158525891G>C ENST00000251527.5 - 0 3754 NM_020728.2 NP_065779.1 A0FGR8 ESYT2_HUMAN extended synaptotagmin-like protein 2 NA NA endocytosis (GO:0006897)|lipid transport (GO:0006869) extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232) calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2) 32 TGACAATAATGAGATCGAGCT 0.483 NA G||| 1881 0.375599 0.4917 0.2666 5008 , , NA 18626 0.5962 NA 0.172 False NA ,,, NA NA NA 2504 0.2781 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB033054 CCDS34791.1 7q36.3 2014-07-02 2009-06-23 2009-06-23 ENSG00000117868 ENSG00000117868 57488 Synaptotagmins 22211 protein-coding gene gene with protein product family with sequence similarity 62 (C2 domain containing), member B FAM62B NA 17672888 Standard NM_020728 NM_020728 NA Approved KIAA1228, CHR2SYT uc003wob.1 A0FGR8 OTTHUMG00000151436 ENST00000251527.5:c.*1007C>G chr7.hg19:g.158525891G>C NA A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2 hg19 CCDS34791.1 0.02 4.676246 AATxAGA COVERED NOVEL ESYT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322647.1 0 15.650319 KEEP 0 0 0 52 1819 GG 1 1 0 - 10 60 376 0 0 26.49004 138 60 5312 248 ENST00000251527.5 0.067568 1 ESYT2 57488 __UNKNOWN__ __UNKNOWN__ 7 158526185 158526185 __UNKNOWN__ 3'UTR SNP T T C rs712192 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:158526185T>C ENST00000251527.5 - 0 3460 NM_020728.2 NP_065779.1 A0FGR8 ESYT2_HUMAN extended synaptotagmin-like protein 2 NA NA endocytosis (GO:0006897)|lipid transport (GO:0006869) extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232) calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2) 32 CAGATTAGCATAATGTGATTT 0.274 NA C||| 2051 0.409545 0.6135 0.2795 5008 , , NA 15993 0.5962 NA 0.172 False NA ,,, NA NA NA 2504 0.2781 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB033054 CCDS34791.1 7q36.3 2014-07-02 2009-06-23 2009-06-23 ENSG00000117868 ENSG00000117868 57488 Synaptotagmins 22211 protein-coding gene gene with protein product family with sequence similarity 62 (C2 domain containing), member B FAM62B NA 17672888 Standard NM_020728 NM_020728 NA Approved KIAA1228, CHR2SYT uc003wob.1 A0FGR8 OTTHUMG00000151436 ENST00000251527.5:c.*713A>G chr7.hg19:g.158526185T>C NA A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2 hg19 CCDS34791.1 0.02 7.5953 GCAxAAT COVERED NOVEL ESYT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322647.1 0 13.84032 KEEP 0 0 0 46 1424 TT 1 1 0 - 15 60 555 0 0 40.004662 175 60 6422 286 ENST00000251527.5 0.078947 1 ESYT2 57488 __UNKNOWN__ __UNKNOWN__ 7 158526354 158526354 __UNKNOWN__ 3'UTR SNP G G A rs1061739 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:158526354G>A ENST00000251527.5 - 0 3291 ESYT2_ENST00000435514.2_3'UTR NM_020728.2 NP_065779.1 A0FGR8 ESYT2_HUMAN extended synaptotagmin-like protein 2 NA NA endocytosis (GO:0006897)|lipid transport (GO:0006869) extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232) calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2) 32 AAACATACTAGCATTTAATAA 0.284 NA A||| 1806 0.360623 0.4387 0.2622 5008 , , NA 16015 0.5962 NA 0.17 False NA ,,, NA NA NA 2504 0.2781 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB033054 CCDS34791.1 7q36.3 2014-07-02 2009-06-23 2009-06-23 ENSG00000117868 ENSG00000117868 57488 Synaptotagmins 22211 protein-coding gene gene with protein product family with sequence similarity 62 (C2 domain containing), member B FAM62B NA 17672888 Standard NM_020728 NM_020728 NA Approved KIAA1228, CHR2SYT uc003wob.1 A0FGR8 OTTHUMG00000151436 ENST00000251527.5:c.*544C>T chr7.hg19:g.158526354G>A NA A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2 hg19 CCDS34791.1 0.02 8.974621 CTAxCAT COVERED NOVEL ESYT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322647.1 1 26.785836 KEEP 0 0 0 89 3198 GG 1 1 0 - 23 60 833 0 0 61.020449 225 60 8548 413 ENST00000251527.5 0.092742 1 ESYT2 57488 __UNKNOWN__ __UNKNOWN__ 7 158526455 158526455 __UNKNOWN__ 3'UTR SNP G G T rs1061735 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:158526455G>T ENST00000251527.5 - 0 3190 ESYT2_ENST00000435514.2_3'UTR NM_020728.2 NP_065779.1 A0FGR8 ESYT2_HUMAN extended synaptotagmin-like protein 2 NA NA endocytosis (GO:0006897)|lipid transport (GO:0006869) extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232) calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2) 32 TTTGTCACACGAATTTAATAA 0.254 NA G||| 1808 0.361022 0.4402 0.2622 5008 , , NA 15450 0.5962 NA 0.17 False NA ,,, NA NA NA 2504 0.2781 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB033054 CCDS34791.1 7q36.3 2014-07-02 2009-06-23 2009-06-23 ENSG00000117868 ENSG00000117868 57488 Synaptotagmins 22211 protein-coding gene gene with protein product family with sequence similarity 62 (C2 domain containing), member B FAM62B NA 17672888 Standard NM_020728 NM_020728 NA Approved KIAA1228, CHR2SYT uc003wob.1 A0FGR8 OTTHUMG00000151436 ENST00000251527.5:c.*443C>A chr7.hg19:g.158526455G>T NA A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2 hg19 CCDS34791.1 0.02 9.138693 CACxAAT COVERED NOVEL ESYT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322647.1 2 26.483342 KEEP 0 0 0 88 2943 GG 1 1 0 - 18 60 662 0 0 47.850075 199 60 7146 363 ENST00000251527.5 0.082949 1 ESYT2 57488 __UNKNOWN__ __UNKNOWN__ 7 158526495 158526495 __UNKNOWN__ 3'UTR SNP G G A rs12670487 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:158526495G>A ENST00000251527.5 - 0 3150 ESYT2_ENST00000435514.2_3'UTR NM_020728.2 NP_065779.1 A0FGR8 ESYT2_HUMAN extended synaptotagmin-like protein 2 NA NA endocytosis (GO:0006897)|lipid transport (GO:0006869) extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232) calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2) 32 ATATTTCCTTGATCTATTTCC 0.284 NA G||| 1416 0.282748 0.3268 0.2161 5008 , , NA 14973 0.5506 NA 0.0676 False NA ,,, NA NA NA 2504 0.2157 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB033054 CCDS34791.1 7q36.3 2014-07-02 2009-06-23 2009-06-23 ENSG00000117868 ENSG00000117868 57488 Synaptotagmins 22211 protein-coding gene gene with protein product family with sequence similarity 62 (C2 domain containing), member B FAM62B NA 17672888 Standard NM_020728 NM_020728 NA Approved KIAA1228, CHR2SYT uc003wob.1 A0FGR8 OTTHUMG00000151436 ENST00000251527.5:c.*403C>T chr7.hg19:g.158526495G>A NA A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2 hg19 CCDS34791.1 0.02 5.733447 CTTxATC COVERED NOVEL ESYT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322647.1 4 19.856938 KEEP 0 0 0 66 2240 GG 1 1 0 - 12 60 421 0 0 28.538469 173 60 6505 274 ENST00000251527.5 0.064865 1 ESYT2 57488 __UNKNOWN__ __UNKNOWN__ 7 158526880 158526880 __UNKNOWN__ 3'UTR SNP G G A rs3750051 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:158526880G>A ENST00000251527.5 - 0 2765 ESYT2_ENST00000435514.2_3'UTR NM_020728.2 NP_065779.1 A0FGR8 ESYT2_HUMAN extended synaptotagmin-like protein 2 NA NA endocytosis (GO:0006897)|lipid transport (GO:0006869) extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232) calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2) 32 TGAAGAGGACGCCTCCTGCCT 0.502 NA C||| 1462 0.291933 0.3684 0.2089 5008 , , NA 18495 0.5536 NA 0.0656 False NA ,,, NA NA NA 2504 0.2106 NA NA NA NA 0 1374,3032 221,932,1050 86 61 70 -5.3 0 7 dbSNP_107 70 557,8043 13,531,3756 no utr-3 ESYT2 NM_020728.2 234,1463,4806 AA,AG,GG 6.4767,31.1847,14.847 158526880 1931,11075 2203 4300 6503 SO:0001624 3_prime_UTR_variant AB033054 CCDS34791.1 7q36.3 2014-07-02 2009-06-23 2009-06-23 ENSG00000117868 ENSG00000117868 57488 Synaptotagmins 22211 protein-coding gene gene with protein product family with sequence similarity 62 (C2 domain containing), member B FAM62B NA 17672888 Standard NM_020728 NM_020728 NA Approved KIAA1228, CHR2SYT uc003wob.1 A0FGR8 OTTHUMG00000151436 ENST00000251527.5:c.*18C>T chr7.hg19:g.158526880G>A NA A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2 hg19 CCDS34791.1 0.02 11.280187 GACxCCT COVERED NOVEL ESYT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322647.1 4 27.687084 KEEP 0 0 0 92 3170 GG 1 1 0 - 32 60 1073 0 0 80.049568 237 60 8530 483 ENST00000251527.5 0.118959 1 ESYT2 57488 __UNKNOWN__ __UNKNOWN__ 7 158527051 158527051 __UNKNOWN__ Intron SNP T T C rs3750052 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:158527051T>C ENST00000251527.5 - 21 2702 ESYT2_ENST00000435514.2_Intron NM_020728.2 NP_065779.1 A0FGR8 ESYT2_HUMAN extended synaptotagmin-like protein 2 NA NA endocytosis (GO:0006897)|lipid transport (GO:0006869) extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232) calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2) 32 CACTACCCACTGGGCGGGGAA 0.547 NA C||| 1836 0.366613 0.4455 0.2622 5008 , , NA 17891 0.6091 NA 0.175 False NA ,,, NA NA NA 2504 0.2812 NA NA NA NA 0 518,866 96,326,270 48 50 49 -2 0 7 dbSNP_107 49 537,2645 42,453,1096 no intron ESYT2 NM_020728.2 138,779,1366 CC,CT,TT 16.8762,37.4277,23.1056 158527051 1055,3511 692 1591 2283 SO:0001627 intron_variant AB033054 CCDS34791.1 7q36.3 2014-07-02 2009-06-23 2009-06-23 ENSG00000117868 ENSG00000117868 57488 Synaptotagmins 22211 protein-coding gene gene with protein product family with sequence similarity 62 (C2 domain containing), member B FAM62B NA 17672888 Standard NM_020728 NM_020728 NA Approved KIAA1228, CHR2SYT uc003wob.1 A0FGR8 OTTHUMG00000151436 ENST00000251527.5:c.2636+61A>G chr7.hg19:g.158527051T>C NA A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2 hg19 CCDS34791.1 0.02 5.004298 CACxGGG COVERED NOVEL ESYT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322647.1 0 9.926813 KEEP 0 0 0 33 989 TT 0.999998 0.999997 0 - 13 60 453 0 0 33.58388 108 60 3989 172 ENST00000251527.5 0.107438 0.999999 ESYT2 57488 __UNKNOWN__ __UNKNOWN__ 7 158527260 158527260 __UNKNOWN__ Intron SNP T T G rs3763413 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:158527260T>G ENST00000251527.5 - 21 2652 ESYT2_ENST00000435514.2_Intron NM_020728.2 NP_065779.1 A0FGR8 ESYT2_HUMAN extended synaptotagmin-like protein 2 NA NA endocytosis (GO:0006897)|lipid transport (GO:0006869) extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232) calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2) 32 tgggaggatctcttaagccca 0.488 NA G||| 1870 0.373403 0.4667 0.2738 5008 , , NA 19122 0.6052 NA 0.166 False NA ,,, NA NA NA 2504 0.2924 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB033054 CCDS34791.1 7q36.3 2014-07-02 2009-06-23 2009-06-23 ENSG00000117868 ENSG00000117868 57488 Synaptotagmins 22211 protein-coding gene gene with protein product family with sequence similarity 62 (C2 domain containing), member B FAM62B NA 17672888 Standard NM_020728 NM_020728 NA Approved KIAA1228, CHR2SYT uc003wob.1 A0FGR8 OTTHUMG00000151436 ENST00000251527.5:c.2587-98A>C chr7.hg19:g.158527260T>G NA A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2 hg19 CCDS34791.1 0.02 -0.368474 ATCxCTT COVERED NOVEL ESYT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322647.1 1 3.009096 KEEP 0 0 0 10 316 TT 0.992708 0.892756 0 - 3 60 117 0 0 8.438444 39 60 1420 57 ENST00000251527.5 0.071429 0.899314 ESYT2 57488 __UNKNOWN__ __UNKNOWN__ 7 158528233 158528233 __UNKNOWN__ Silent SNP A A G rs3816462 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:158528233A>G ENST00000251527.5 - 20 2612 c.2547T>C c.(2545-2547)agT>agC p.S849S ESYT2_ENST00000435514.2_Silent_p.S284S NM_020728.2 NP_065779.1 A0FGR8 ESYT2_HUMAN extended synaptotagmin-like protein 2 877 C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}. NA endocytosis (GO:0006897)|lipid transport (GO:0006869) extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232) calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2) 32 GGAAGCCGCCACTGTTCTTCA 0.458 NA G||| 1770 0.353435 0.4387 0.183 5008 , , NA 18629 0.6022 NA 0.173 False NA ,,, NA NA NA 2504 0.2883 NA NA NA NA 0 1645,2761 504.6+/-365.9 321,1003,879 160 168 165 2547 -9.9 0.3 7 dbSNP_107 165 1486,7114 281.2+/-294.9 126,1234,2940 no coding-synonymous ESYT2 NM_020728.2 447,2237,3819 GG,GA,AA 17.2791,37.3355,24.0735 849/894 158528233 3131,9875 2203 4300 6503 SO:0001819 synonymous_variant AB033054 CCDS34791.1 7q36.3 2014-07-02 2009-06-23 2009-06-23 ENSG00000117868 ENSG00000117868 57488 Synaptotagmins 22211 protein-coding gene gene with protein product family with sequence similarity 62 (C2 domain containing), member B FAM62B NA 17672888 Standard NM_020728 NM_020728 NA Approved KIAA1228, CHR2SYT uc003wob.1 A0FGR8 OTTHUMG00000151436 ENST00000251527.5:c.2547T>C chr7.hg19:g.158528233A>G NA A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2 hg19 CCDS34791.1 0.02 4.260916 GCCxCTG COVERED NOVEL ESYT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322647.1 0 23.765615 KEEP 0 0 0 79 2415 AA 1 1 0 - 10 60 279 0 0 17.203034 134 60 4794 281 ENST00000251527.5 0.069444 1 ESYT2 57488 __UNKNOWN__ __UNKNOWN__ 7 158529560 158529560 __UNKNOWN__ Intron SNP C C T rs6961811 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:158529560C>T ENST00000251527.5 - 19 2546 ESYT2_ENST00000435514.2_Intron NM_020728.2 NP_065779.1 A0FGR8 ESYT2_HUMAN extended synaptotagmin-like protein 2 NA NA endocytosis (GO:0006897)|lipid transport (GO:0006869) extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232) calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2) 32 TTTAGAGCTTCTACATGAAGG 0.353 NA C||| 1683 0.336062 0.3994 0.1801 5008 , , NA 17042 0.5843 NA 0.17 False NA ,,, NA NA NA 2504 0.2761 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB033054 CCDS34791.1 7q36.3 2014-07-02 2009-06-23 2009-06-23 ENSG00000117868 ENSG00000117868 57488 Synaptotagmins 22211 protein-coding gene gene with protein product family with sequence similarity 62 (C2 domain containing), member B FAM62B NA 17672888 Standard NM_020728 NM_020728 NA Approved KIAA1228, CHR2SYT uc003wob.1 A0FGR8 OTTHUMG00000151436 ENST00000251527.5:c.2480+178G>A chr7.hg19:g.158529560C>T NA A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2 hg19 CCDS34791.1 0.02 1.88658 CTTxTAC COVERED NOVEL ESYT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322647.1 1 4.213133 KEEP 0 0 0 14 460 CC 0.995343 0.994565 0 - 9 60 312 0 0 23.280131 71 60 2562 96 ENST00000251527.5 0.1125 0.999218 ESYT2 57488 __UNKNOWN__ __UNKNOWN__ 7 158529668 158529668 __UNKNOWN__ Intron SNP C C G rs73526313 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:158529668C>G ENST00000251527.5 - 19 2546 ESYT2_ENST00000435514.2_Intron NM_020728.2 NP_065779.1 A0FGR8 ESYT2_HUMAN extended synaptotagmin-like protein 2 NA NA endocytosis (GO:0006897)|lipid transport (GO:0006869) extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232) calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2) 32 CACTCAAAGGCACCATTTAGG 0.393 NA C||| 1277 0.254992 0.2753 0.1326 5008 , , NA 18829 0.5417 NA 0.0656 False NA ,,, NA NA NA 2504 0.2137 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB033054 CCDS34791.1 7q36.3 2014-07-02 2009-06-23 2009-06-23 ENSG00000117868 ENSG00000117868 57488 Synaptotagmins 22211 protein-coding gene gene with protein product family with sequence similarity 62 (C2 domain containing), member B FAM62B NA 17672888 Standard NM_020728 NM_020728 NA Approved KIAA1228, CHR2SYT uc003wob.1 A0FGR8 OTTHUMG00000151436 ENST00000251527.5:c.2480+70G>C chr7.hg19:g.158529668C>G NA A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2 hg19 CCDS34791.1 0.02 12.521382 AGGxACC COVERED NOVEL ESYT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322647.1 1 30.699681 KEEP 0 0 0 102 3613 CC 1 1 0 - 35 60 1308 0 0 102.651576 229 60 8508 456 ENST00000251527.5 0.132576 1 ESYT2 57488 __UNKNOWN__ __UNKNOWN__ 7 158529704 158529704 __UNKNOWN__ Intron SNP G G A rs6960873 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:158529704G>A ENST00000251527.5 - 19 2546 ESYT2_ENST00000435514.2_Intron NM_020728.2 NP_065779.1 A0FGR8 ESYT2_HUMAN extended synaptotagmin-like protein 2 NA NA endocytosis (GO:0006897)|lipid transport (GO:0006869) extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232) calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2) 32 CACTTCAACCGGGCAGTCTAT 0.438 NA A||| 1683 0.336062 0.3994 0.1801 5008 , , NA 19556 0.5843 NA 0.17 False NA ,,, NA NA NA 2504 0.2761 NA NA NA NA 0 1506,2900 675.3+/-403.1 263,980,960 177 169 172 -5 0 7 dbSNP_116 172 1474,7126 750.3+/-407.4 126,1222,2952 no intron ESYT2 NM_020728.2 389,2202,3912 AA,AG,GG 17.1395,34.1807,22.9125 158529704 2980,10026 2203 4300 6503 SO:0001627 intron_variant AB033054 CCDS34791.1 7q36.3 2014-07-02 2009-06-23 2009-06-23 ENSG00000117868 ENSG00000117868 57488 Synaptotagmins 22211 protein-coding gene gene with protein product family with sequence similarity 62 (C2 domain containing), member B FAM62B NA 17672888 Standard NM_020728 NM_020728 NA Approved KIAA1228, CHR2SYT uc003wob.1 A0FGR8 OTTHUMG00000151436 ENST00000251527.5:c.2480+34C>T chr7.hg19:g.158529704G>A NA A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2 hg19 CCDS34791.1 0.02 15.384119 ACCxGGC COVERED NOVEL ESYT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322647.1 1 41.53081 KEEP 0 0 0 138 4676 GG 1 1 0 - 43 60 1631 0 0 130.016957 258 60 8978 573 ENST00000251527.5 0.142857 1 ESYT2 57488 __UNKNOWN__ __UNKNOWN__ 7 158529889 158529889 __UNKNOWN__ Intron SNP T T G rs2305467 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:158529889T>G ENST00000251527.5 - 19 2414 ESYT2_ENST00000435514.2_Intron NM_020728.2 NP_065779.1 A0FGR8 ESYT2_HUMAN extended synaptotagmin-like protein 2 NA NA endocytosis (GO:0006897)|lipid transport (GO:0006869) extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232) calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2) 32 ACAAACCAGATAAGACGAGGT 0.428 NA G||| 1683 0.336062 0.3994 0.1801 5008 , , NA 19896 0.5843 NA 0.17 False NA ,,, NA NA NA 2504 0.2761 NA NA NA NA 0 1506,2900 675.3+/-403.1 263,980,960 82 75 78 0.1 0.5 7 dbSNP_100 78 1474,7126 750.3+/-407.4 125,1224,2951 no intron ESYT2 NM_020728.2 388,2204,3911 GG,GT,TT 17.1395,34.1807,22.9125 158529889 2980,10026 2203 4300 6503 SO:0001627 intron_variant AB033054 CCDS34791.1 7q36.3 2014-07-02 2009-06-23 2009-06-23 ENSG00000117868 ENSG00000117868 57488 Synaptotagmins 22211 protein-coding gene gene with protein product family with sequence similarity 62 (C2 domain containing), member B FAM62B NA 17672888 Standard NM_020728 NM_020728 NA Approved KIAA1228, CHR2SYT uc003wob.1 A0FGR8 OTTHUMG00000151436 ENST00000251527.5:c.2349-19A>C chr7.hg19:g.158529889T>G NA A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2 hg19 CCDS34791.1 0.02 2.110171 AGAxAAG COVERED NOVEL ESYT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322647.1 1 4.212385 KEEP 0 0 0 14 432 TT 0.995343 0.995306 0 - 10 60 383 0 0 28.955567 90 60 3201 120 ENST00000251527.5 0.1 0.999962 ESYT2 57488 __UNKNOWN__ __UNKNOWN__ 7 158531641 158531641 __UNKNOWN__ Intron SNP G G A rs7803766 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:158531641G>A ENST00000251527.5 - 18 2414 ESYT2_ENST00000435514.2_Intron NM_020728.2 NP_065779.1 A0FGR8 ESYT2_HUMAN extended synaptotagmin-like protein 2 NA NA endocytosis (GO:0006897)|lipid transport (GO:0006869) extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232) calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2) 32 TCCTAAAGGCGGTGTCTACAT 0.517 NA G||| 1684 0.336262 0.3994 0.1801 5008 , , NA 11874 0.5843 NA 0.171 False NA ,,, NA NA NA 2504 0.2761 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB033054 CCDS34791.1 7q36.3 2014-07-02 2009-06-23 2009-06-23 ENSG00000117868 ENSG00000117868 57488 Synaptotagmins 22211 protein-coding gene gene with protein product family with sequence similarity 62 (C2 domain containing), member B FAM62B NA 17672888 Standard NM_020728 NM_020728 NA Approved KIAA1228, CHR2SYT uc003wob.1 A0FGR8 OTTHUMG00000151436 ENST00000251527.5:c.2348+72C>T chr7.hg19:g.158531641G>A NA A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2 hg19 CCDS34791.1 0.02 2.343617 GGCxGTG COVERED NOVEL ESYT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322647.1 1 5.416465 KEEP 0 0 0 18 572 GG 0.999859 0.990825 0 - 5 60 185 0 0 13.339024 57 60 1842 81 ENST00000251527.5 0.080645 0.990964 ESYT2 57488 __UNKNOWN__ __UNKNOWN__ 7 158531692 158531692 __UNKNOWN__ Intron SNP C C T rs7804970 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:158531692C>T ENST00000251527.5 - 18 2414 ESYT2_ENST00000435514.2_Intron NM_020728.2 NP_065779.1 A0FGR8 ESYT2_HUMAN extended synaptotagmin-like protein 2 NA NA endocytosis (GO:0006897)|lipid transport (GO:0006869) extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232) calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2) 32 CAGCAGCGGGCGCGTGGGACC 0.547 NA NA NA NA NA NA NA NA NA NA NA 0 1506,2900 479.2+/-358.4 264,978,961 76 68 70 -2.1 0 7 dbSNP_116 70 1486,7114 280.6+/-294.6 128,1230,2942 no intron ESYT2 NM_020728.2 392,2208,3903 TT,TC,CC 17.2791,34.1807,23.0048 158531692 2992,10014 2203 4300 6503 SO:0001627 intron_variant AB033054 CCDS34791.1 7q36.3 2014-07-02 2009-06-23 2009-06-23 ENSG00000117868 ENSG00000117868 57488 Synaptotagmins 22211 protein-coding gene gene with protein product family with sequence similarity 62 (C2 domain containing), member B FAM62B NA 17672888 Standard NM_020728 NM_020728 NA Approved KIAA1228, CHR2SYT uc003wob.1 A0FGR8 OTTHUMG00000151436 ENST00000251527.5:c.2348+21G>A chr7.hg19:g.158531692C>T NA A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2 hg19 CCDS34791.1 0.02 2.054858 GGGxGCG COVERED NOVEL ESYT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322647.1 2 15.648929 KEEP 0 0 0 52 1810 CC 1 0.99994 0 - 11 60 373 0 0 27.769078 84 60 3043 170 ENST00000251527.5 0.115789 0.99994 ESYT2 57488 __UNKNOWN__ __UNKNOWN__ 7 158531888 158531888 __UNKNOWN__ Intron SNP G G A rs7780879 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:158531888G>A ENST00000251527.5 - 18 2315 ESYT2_ENST00000435514.2_Intron NM_020728.2 NP_065779.1 A0FGR8 ESYT2_HUMAN extended synaptotagmin-like protein 2 NA NA endocytosis (GO:0006897)|lipid transport (GO:0006869) extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232) calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2) 32 CACTGTACACGATAAAATAAT 0.398 NA A||| 1683 0.336062 0.3994 0.1801 5008 , , NA 18631 0.5843 NA 0.17 False NA ,,, NA NA NA 2504 0.2761 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB033054 CCDS34791.1 7q36.3 2014-07-02 2009-06-23 2009-06-23 ENSG00000117868 ENSG00000117868 57488 Synaptotagmins 22211 protein-coding gene gene with protein product family with sequence similarity 62 (C2 domain containing), member B FAM62B NA 17672888 Standard NM_020728 NM_020728 NA Approved KIAA1228, CHR2SYT uc003wob.1 A0FGR8 OTTHUMG00000151436 ENST00000251527.5:c.2250-76C>T chr7.hg19:g.158531888G>A NA A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2 hg19 CCDS34791.1 0.02 6.405355 CACxATA COVERED NOVEL ESYT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322647.1 3 26.116195 KEEP 0 1 32 98 3281 GG 1 1 0 - 18 60 647 0 0 47.479888 171 60 6200 341 ENST00000251527.5 0.095238 1 ESYT2 57488 __UNKNOWN__ __UNKNOWN__ 7 158531893 158531893 __UNKNOWN__ Intron SNP A A G rs7800556 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:158531893A>G ENST00000251527.5 - 18 2315 ESYT2_ENST00000435514.2_Intron NM_020728.2 NP_065779.1 A0FGR8 ESYT2_HUMAN extended synaptotagmin-like protein 2 NA NA endocytosis (GO:0006897)|lipid transport (GO:0006869) extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232) calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2) 32 TACACGATAAAATAATTTCTA 0.388 NA G||| 1683 0.336062 0.3994 0.1801 5008 , , NA 18758 0.5843 NA 0.17 False NA ,,, NA NA NA 2504 0.2761 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB033054 CCDS34791.1 7q36.3 2014-07-02 2009-06-23 2009-06-23 ENSG00000117868 ENSG00000117868 57488 Synaptotagmins 22211 protein-coding gene gene with protein product family with sequence similarity 62 (C2 domain containing), member B FAM62B NA 17672888 Standard NM_020728 NM_020728 NA Approved KIAA1228, CHR2SYT uc003wob.1 A0FGR8 OTTHUMG00000151436 ENST00000251527.5:c.2250-81T>C chr7.hg19:g.158531893A>G NA A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2 hg19 CCDS34791.1 0.02 7.200788 TAAxATA COVERED NOVEL ESYT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322647.1 3 27.98015 KEEP 0 0 0 93 2831 AA 1 1 0 - 16 60 581 0 0 42.372593 162 60 5828 316 ENST00000251527.5 0.089888 1 ESYT2 57488 __UNKNOWN__ __UNKNOWN__ 7 158534181 158534181 __UNKNOWN__ Intron SNP C C T rs552106412 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:158534181C>T ENST00000251527.5 - 17 2315 ESYT2_ENST00000435514.2_Intron NM_020728.2 NP_065779.1 A0FGR8 ESYT2_HUMAN extended synaptotagmin-like protein 2 NA NA endocytosis (GO:0006897)|lipid transport (GO:0006869) extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232) calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2) 32 GCTTGCTCTGCTGGTGAGAAA 0.592 NA C||| 2 0.000399361 0.0 0.0 5008 , , NA 18687 0.002 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 43 41 42 NA NA 7 NA 158534181 2203 4300 6503 SO:0001627 intron_variant AB033054 CCDS34791.1 7q36.3 2014-07-02 2009-06-23 2009-06-23 ENSG00000117868 ENSG00000117868 57488 Synaptotagmins 22211 protein-coding gene gene with protein product family with sequence similarity 62 (C2 domain containing), member B FAM62B NA 17672888 Standard NM_020728 NM_020728 NA Approved KIAA1228, CHR2SYT uc003wob.1 A0FGR8 OTTHUMG00000151436 ENST00000251527.5:c.2249+32G>A chr7.hg19:g.158534181C>T NA A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2 hg19 CCDS34791.1 0.02 1.900473 CTGxTGG COVERED NOVEL ESYT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322647.1 0 9.630734 KEEP 0 0 0 32 1107 CC 0.999997 0.995081 0 - 6 60 205 0 0 14.592721 61 60 2276 107 ENST00000251527.5 0.089552 0.995084 ESYT2 57488 __UNKNOWN__ __UNKNOWN__ 7 158534372 158534372 __UNKNOWN__ Silent SNP G G A rs57686648 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:158534372G>A ENST00000251527.5 - 17 2156 c.2091C>T c.(2089-2091)gcC>gcT p.A697A ESYT2_ENST00000435514.2_Silent_p.A132A NM_020728.2 NP_065779.1 A0FGR8 ESYT2_HUMAN extended synaptotagmin-like protein 2 725 NA endocytosis (GO:0006897)|lipid transport (GO:0006869) extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232) calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2) 32 CCTGAGGGCCGGCCTCAGGGG 0.657 NA G||| 1602 0.319888 0.3563 0.183 5008 , , NA 15920 0.5774 NA 0.166 False NA ,,, NA NA NA 2504 0.2607 NA NA NA NA 0 1358,3048 447.1+/-348.2 215,928,1060 34 37 36 2091 2.1 0.7 7 dbSNP_129 36 1344,7256 258.7+/-282.2 100,1144,3056 no coding-synonymous ESYT2 NM_020728.2 315,2072,4116 AA,AG,GG 15.6279,30.8216,20.775 697/894 158534372 2702,10304 2203 4300 6503 SO:0001819 synonymous_variant AB033054 CCDS34791.1 7q36.3 2014-07-02 2009-06-23 2009-06-23 ENSG00000117868 ENSG00000117868 57488 Synaptotagmins 22211 protein-coding gene gene with protein product family with sequence similarity 62 (C2 domain containing), member B FAM62B NA 17672888 Standard NM_020728 NM_020728 NA Approved KIAA1228, CHR2SYT uc003wob.1 A0FGR8 OTTHUMG00000151436 ENST00000251527.5:c.2091C>T chr7.hg19:g.158534372G>A NA A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2 hg19 CCDS34791.1 0.02 16.949791 GCCxGCC COVERED NOVEL ESYT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322647.1 2 55.283941 KEEP 0 1 32 195 6682 GG 1 1 0 - 50 60 1836 0 0 142.394742 344 60 11987 771 ENST00000251527.5 0.126904 1 ESYT2 57488 __UNKNOWN__ __UNKNOWN__ 7 158534381 158534381 __UNKNOWN__ Silent SNP G G C rs59980573 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:158534381G>C ENST00000251527.5 - 17 2147 c.2082C>G c.(2080-2082)ccC>ccG p.P694P ESYT2_ENST00000435514.2_Silent_p.P129P NM_020728.2 NP_065779.1 A0FGR8 ESYT2_HUMAN extended synaptotagmin-like protein 2 722 NA endocytosis (GO:0006897)|lipid transport (GO:0006869) extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232) calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2) 32 CGGCCTCAGGGGGCTGGGCCT 0.637 NA G||| 1701 0.339657 0.4085 0.1888 5008 , , NA 15915 0.5813 NA 0.171 False NA ,,, NA NA NA 2504 0.2781 NA NA NA NA 0 1517,2889 475.3+/-357.3 269,979,955 37 40 39 2082 -9.7 0 7 dbSNP_129 39 1395,7205 266.0+/-286.5 104,1187,3009 no coding-synonymous ESYT2 NM_020728.2 373,2166,3964 CC,CG,GG 16.2209,34.4303,22.3897 694/894 158534381 2912,10094 2203 4300 6503 SO:0001819 synonymous_variant AB033054 CCDS34791.1 7q36.3 2014-07-02 2009-06-23 2009-06-23 ENSG00000117868 ENSG00000117868 57488 Synaptotagmins 22211 protein-coding gene gene with protein product family with sequence similarity 62 (C2 domain containing), member B FAM62B NA 17672888 Standard NM_020728 NM_020728 NA Approved KIAA1228, CHR2SYT uc003wob.1 A0FGR8 OTTHUMG00000151436 ENST00000251527.5:c.2082C>G chr7.hg19:g.158534381G>C NA A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2 hg19 CCDS34791.1 0.02 19.984452 AGGxGGC COVERED NOVEL ESYT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322647.1 2 61.379294 KEEP 0 0 0 204 7044 GG 1 1 0 - 50 60 1773 0 0 135.737169 350 60 12891 784 ENST00000251527.5 0.125 1 ESYT2 57488 __UNKNOWN__ __UNKNOWN__ 7 158536267 158536267 __UNKNOWN__ Missense_Mutation SNP T T C rs2305473 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:158536267T>C ENST00000251527.5 - 16 1893 c.1828A>G c.(1828-1830)Agt>Ggt p.S610G ESYT2_ENST00000435514.2_Missense_Mutation_p.S45G NM_020728.2 NP_065779.1 A0FGR8 ESYT2_HUMAN extended synaptotagmin-like protein 2 638 C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}. NA endocytosis (GO:0006897)|lipid transport (GO:0006869) extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232) calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2) 32 CCCGAGTTACTGAGCTGGAAG 0.597 NA T||| 1680 0.335463 0.3994 0.1801 5008 , , NA 17999 0.5843 NA 0.17 False NA ,,, NA NA NA 2504 0.273 NA NA NA NA 0 GLY/SER 1507,2899 479.5+/-358.5 265,977,961 123 97 106 1828 3 0.3 7 dbSNP_100 106 1469,7131 279.0+/-293.7 125,1219,2956 yes missense ESYT2 NM_020728.2 56 390,2196,3917 CC,CT,TT 17.0814,34.2034,22.8817 benign 610/894 158536267 2976,10030 2203 4300 6503 SO:0001583 missense AB033054 CCDS34791.1 7q36.3 2014-07-02 2009-06-23 2009-06-23 ENSG00000117868 ENSG00000117868 57488 Synaptotagmins 22211 protein-coding gene gene with protein product family with sequence similarity 62 (C2 domain containing), member B FAM62B NA 17672888 Standard NM_020728 NM_020728 NA Approved KIAA1228, CHR2SYT uc003wob.1 A0FGR8 OTTHUMG00000151436 ENST00000251527.5:c.1828A>G chr7.hg19:g.158536267T>C ENSP00000251527:p.Ser610Gly NA A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2 hg19 CCDS34791.1 0.02 14.100665 TACxGAG COVERED 701 0.320970695970696 187 0.3800813008130081 63 0.17403314917127072 323 0.5646853146853147 128 0.16886543535620052 T 13.55 2.270957 0.40194 0.342034 0.170814 ENSG00000117868 ENST00000251527;ENST00000421679;ENST00000275418;ENST00000435514;ENST00000377650;ENST00000429474 T;T;T 0.24538 1.85;1.85;1.85 5.43 3.0 0.34707 C2 calcium/lipid-binding domain, CaLB (1); 0.146748 0.64402 D 0.000004 T 0.00012 0.0000 M 0.65498 2.005 0.34595 P 0.284046 P;B 0.35033 0.481;0.133 B;B 0.33454 0.164;0.065 T 0.43972 -0.9358 9 0.33940 T 0.23 -25.813 6.7082 0.23262 0.136:0.0742:0.0:0.7898 rs2305473;rs59383218;rs2305473 610;638 A0FGR8-2;A0FGR8 .;ESYT2_HUMAN G 610;659;601;45;45;434 ENSP00000251527:S610G;ENSP00000275418:S601G;ENSP00000411488:S45G ENSP00000251527:S610G S - 1 0 ESYT2 158229028 1.000000 0.71417 0.309000 0.25155 0.752000 0.42762 3.254000 0.51477 0.343000 0.23821 0.455000 0.32223 AGT NOVEL ESYT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322647.1 2 22.996176 KEEP 0 1 36 89 2817 TT 1 1 0 - 22 60 791 0 0 54.904142 295 60 11134 529 ENST00000251527.5 0.069401 1 ESYT2 57488 __UNKNOWN__ __UNKNOWN__ 7 158536593 158536593 __UNKNOWN__ Intron SNP A A G rs71547567 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:158536593A>G ENST00000251527.5 - 16 1791 ESYT2_ENST00000435514.2_5'UTR NM_020728.2 NP_065779.1 A0FGR8 ESYT2_HUMAN extended synaptotagmin-like protein 2 NA NA endocytosis (GO:0006897)|lipid transport (GO:0006869) extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232) calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2) 32 gtgaaacctcatctctactaa 0.537 NA a||| 1682 0.335863 0.3994 0.1801 5008 , , NA 17337 0.5843 NA 0.17 False NA ,,, NA NA NA 2504 0.2751 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB033054 CCDS34791.1 7q36.3 2014-07-02 2009-06-23 2009-06-23 ENSG00000117868 ENSG00000117868 57488 Synaptotagmins 22211 protein-coding gene gene with protein product family with sequence similarity 62 (C2 domain containing), member B FAM62B NA 17672888 Standard NM_020728 NM_020728 NA Approved KIAA1228, CHR2SYT uc003wob.1 A0FGR8 OTTHUMG00000151436 ENST00000251527.5:c.1726-224T>C chr7.hg19:g.158536593A>G NA A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2 hg19 CCDS34791.1 0.02 6.421944 CTCxTCT COVERED NOVEL ESYT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322647.1 2 9.012569 KEEP 0 0 0 30 864 AA 0.999997 0.999997 0 - 9 60 317 0 0 21.203739 142 60 5042 185 ENST00000251527.5 0.059603 1 ESYT2 57488 __UNKNOWN__ __UNKNOWN__ 7 158536602 158536602 __UNKNOWN__ Intron SNP A A G rs71547568 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:158536602A>G ENST00000251527.5 - 16 1791 ESYT2_ENST00000435514.2_5'UTR NM_020728.2 NP_065779.1 A0FGR8 ESYT2_HUMAN extended synaptotagmin-like protein 2 NA NA endocytosis (GO:0006897)|lipid transport (GO:0006869) extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232) calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2) 32 catctctactaaaaatacaaa 0.542 NA a||| 1682 0.335863 0.3994 0.1801 5008 , , NA 17363 0.5843 NA 0.17 False NA ,,, NA NA NA 2504 0.2751 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB033054 CCDS34791.1 7q36.3 2014-07-02 2009-06-23 2009-06-23 ENSG00000117868 ENSG00000117868 57488 Synaptotagmins 22211 protein-coding gene gene with protein product family with sequence similarity 62 (C2 domain containing), member B FAM62B NA 17672888 Standard NM_020728 NM_020728 NA Approved KIAA1228, CHR2SYT uc003wob.1 A0FGR8 OTTHUMG00000151436 ENST00000251527.5:c.1726-233T>C chr7.hg19:g.158536602A>G NA A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2 hg19 CCDS34791.1 0.02 4.661064 ACTxAAA COVERED NOVEL ESYT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322647.1 2 6.013991 KEEP 0 0 0 20 549 AA 0.999863 0.999862 0 - 8 60 265 0 0 17.515729 117 60 4178 148 ENST00000251527.5 0.064 1 ESYT2 57488 __UNKNOWN__ __UNKNOWN__ 7 158536743 158536743 __UNKNOWN__ Intron SNP T T C rs73517581 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:158536743T>C ENST00000251527.5 - 16 1791 ESYT2_ENST00000435514.2_5'UTR NM_020728.2 NP_065779.1 A0FGR8 ESYT2_HUMAN extended synaptotagmin-like protein 2 NA NA endocytosis (GO:0006897)|lipid transport (GO:0006869) extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232) calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2) 32 ccagcctgggtgacaaaactg 0.448 NA t||| 1266 0.252796 0.2663 0.1326 5008 , , NA 18610 0.5417 NA 0.0656 False NA ,,, NA NA NA 2504 0.2147 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB033054 CCDS34791.1 7q36.3 2014-07-02 2009-06-23 2009-06-23 ENSG00000117868 ENSG00000117868 57488 Synaptotagmins 22211 protein-coding gene gene with protein product family with sequence similarity 62 (C2 domain containing), member B FAM62B NA 17672888 Standard NM_020728 NM_020728 NA Approved KIAA1228, CHR2SYT uc003wob.1 A0FGR8 OTTHUMG00000151436 ENST00000251527.5:c.1726-374A>G chr7.hg19:g.158536743T>C NA A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2 hg19 CCDS34791.1 0.02 2.082903 GGGxGAC COVERED NOVEL ESYT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322647.1 4 7.217283 KEEP 0 0 0 24 708 TT 0.999909 0.996634 0 - 7 60 256 0 0 19.107672 62 60 2024 108 ENST00000251527.5 0.101449 0.996724 ESYT2 57488 __UNKNOWN__ __UNKNOWN__ 7 158536942 158536942 __UNKNOWN__ Intron SNP C C T rs9638136 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:158536942C>T ENST00000251527.5 - 16 1791 NM_020728.2 NP_065779.1 A0FGR8 ESYT2_HUMAN extended synaptotagmin-like protein 2 NA NA endocytosis (GO:0006897)|lipid transport (GO:0006869) extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232) calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2) 32 TCTGCTATTTCGTCATTATAG 0.338 NA c||| 1682 0.335863 0.3994 0.1801 5008 , , NA 19778 0.5843 NA 0.17 False NA ,,, NA NA NA 2504 0.2751 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB033054 CCDS34791.1 7q36.3 2014-07-02 2009-06-23 2009-06-23 ENSG00000117868 ENSG00000117868 57488 Synaptotagmins 22211 protein-coding gene gene with protein product family with sequence similarity 62 (C2 domain containing), member B FAM62B NA 17672888 Standard NM_020728 NM_020728 NA Approved KIAA1228, CHR2SYT uc003wob.1 A0FGR8 OTTHUMG00000151436 ENST00000251527.5:c.1726-573G>A chr7.hg19:g.158536942C>T NA A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2 hg19 CCDS34791.1 0.02 4.208873 TTTxGTC COVERED NOVEL ESYT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322647.1 1 11.736964 KEEP 0 0 0 39 1304 CC 1 1 0 - 13 60 483 0 0 36.016944 120 60 4008 196 ENST00000251527.5 0.097744 1 ESYT2 57488 __UNKNOWN__ __UNKNOWN__ 7 158622413 158622413 __UNKNOWN__ Intron SNP C C T rs115040231 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:158622413C>T ENST00000497111.1 - 1 433 A0FGR8 ESYT2_HUMAN extended synaptotagmin-like protein 2 NA NA endocytosis (GO:0006897)|lipid transport (GO:0006869) extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232) calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2) 32 CGTTGTGTCTCGGCTGGCGGG 0.726 NA c||| 970 0.19369 0.118 0.121 5008 , , NA 10175 0.4286 NA 0.0825 False NA ,,, NA NA NA 2504 0.2198 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB033054 CCDS34791.1 7q36.3 2014-07-02 2009-06-23 2009-06-23 ENSG00000117868 ENSG00000117868 57488 Synaptotagmins 22211 protein-coding gene gene with protein product family with sequence similarity 62 (C2 domain containing), member B FAM62B NA 17672888 Standard NM_020728 NM_020728 NA Approved KIAA1228, CHR2SYT uc003wob.1 A0FGR8 OTTHUMG00000151436 ENST00000497111.1:c.230+98G>A chr7.hg19:g.158622413C>T NA A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2 hg19 0.02 -0.307048 TCTxGGC COVERED NOVEL ESYT2-007 KNOWN basic processed_transcript NA protein_coding OTTHUMT00000322653.1 0 4.51372 KEEP 0 0 0 15 485 CC 0.99649 0.797437 0 - 4 60 135 0 0 10.008234 31 60 1121 54 ENST00000497111.1 0.114286 0.800245 ESYT2 57488 __UNKNOWN__ __UNKNOWN__ 7 158622481 158622481 __UNKNOWN__ Intron SNP T T C rs74811915 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:158622481T>C ENST00000497111.1 - 1 433 A0FGR8 ESYT2_HUMAN extended synaptotagmin-like protein 2 NA NA endocytosis (GO:0006897)|lipid transport (GO:0006869) extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232) calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2) 32 CTGCGTCCCCTCGAGCCCCAC 0.746 NA C||| 1033 0.20627 0.1634 0.1225 5008 , , NA 10247 0.4286 NA 0.0845 False NA ,,, NA NA NA 2504 0.2198 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB033054 CCDS34791.1 7q36.3 2014-07-02 2009-06-23 2009-06-23 ENSG00000117868 ENSG00000117868 57488 Synaptotagmins 22211 protein-coding gene gene with protein product family with sequence similarity 62 (C2 domain containing), member B FAM62B NA 17672888 Standard NM_020728 NM_020728 NA Approved KIAA1228, CHR2SYT uc003wob.1 A0FGR8 OTTHUMG00000151436 ENST00000497111.1:c.230+30A>G chr7.hg19:g.158622481T>C NA A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2 hg19 0.02 2.34717 CCCxCGA COVERED NOVEL ESYT2-007 KNOWN basic processed_transcript NA protein_coding OTTHUMT00000322653.1 1 18.352879 KEEP 0 0 0 61 1852 TT 1 0.997898 0 - 6 60 225 0 0 16.359089 67 60 2372 157 ENST00000497111.1 0.082192 0.997898 WDR60 55112 __UNKNOWN__ __UNKNOWN__ 7 158684152 158684152 __UNKNOWN__ Intron SNP A A G rs12672574 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:158684152A>G ENST00000407559.3 + 8 1217 NM_018051.4 NP_060521.4 Q8WVS4 WDR60_HUMAN WD repeat domain 60 NA NA cell projection organization (GO:0030030) cilium (GO:0005929)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2) 35 Ovarian(565;0.152) all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18) GAACATGAGCATGAAGGGACA 0.453 NA A||| 1286 0.256789 0.2443 0.2147 5008 , , NA 22231 0.4802 NA 0.1163 False NA ,,, NA NA NA 2504 0.2178 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS47757.1 7q36.3 2013-11-15 ENSG00000126870 ENSG00000126870 55112 WD repeat domain containing 21862 protein-coding gene gene with protein product 615462 NA 23910462 Standard NM_018051 NM_018051 NA Approved FLJ10300, FAP163 uc003woe.4 Q8WVS4 OTTHUMG00000151443 ENST00000407559.3:c.1059+128A>G chr7.hg19:g.158684152A>G NA Q9NW58 hg19 CCDS47757.1 0.02 8.593173 AGCxTGA COVERED NOVEL WDR60-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322668.1 0 15.344118 KEEP 0 0 0 51 1571 AA 1 1 0 + 14 60 496 0 0 32.965393 232 60 8584 336 ENST00000407559.3 0.056911 1 VIPR2 7434 __UNKNOWN__ __UNKNOWN__ 7 158820933 158820933 __UNKNOWN__ 3'UTR SNP C C T rs78625053 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:158820933C>T ENST00000262178.2 - 0 3876 NM_003382.4 NP_003373.2 P41587 VIPR2_HUMAN vasoactive intestinal peptide receptor 2 NA NA activation of adenylate cyclase activity (GO:0007190)|cell-cell signaling (GO:0007267)|negative regulation of smooth muscle cell proliferation (GO:0048662)|signal transduction (GO:0007165) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|vasoactive intestinal polypeptide receptor activity (GO:0004999) central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 22 Ovarian(565;0.152) all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00231) UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18) GAGGAGTCTGCGACATTCCAC 0.517 NA C||| 358 0.0714856 0.1195 0.0634 5008 , , NA 21689 0.1399 NA 0.0089 False NA ,,, NA NA NA 2504 0.0061 NA NA NA Pancreas(154;1876 1931 2329 17914 20079) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CA449700, X95097 CCDS5950.1 7q36.3 2012-08-10 ENSG00000106018 ENSG00000106018 7434 GPCR / Class B : VIP and PACAP (ADCYAP1) receptors 12695 protein-coding gene gene with protein product VIP and PACAP receptor 2 601970 NA 7811244 Standard NM_003382 NM_003382 NA Approved VPAC2, VPAC2R uc003woh.3 P41587 OTTHUMG00000151446 ENST00000262178.2:c.*2374G>A chr7.hg19:g.158820933C>T NA Q13053|Q15870|Q53Y09|Q6ZN22|Q9UCW0 hg19 CCDS5950.1 0.02 11.052955 CTGxGAC COVERED NOVEL VIPR2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322675.1 3 23.171765 KEEP 0 0 0 77 2630 CC 1 1 0 - 17 60 595 0 0 40.036567 255 60 9289 407 ENST00000262178.2 0.0625 1 VIPR2 7434 __UNKNOWN__ __UNKNOWN__ 7 158822025 158822025 __UNKNOWN__ 3'UTR SNP G G A rs1465227 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:158822025G>A ENST00000262178.2 - 0 2784 NM_003382.4 NP_003373.2 P41587 VIPR2_HUMAN vasoactive intestinal peptide receptor 2 NA NA activation of adenylate cyclase activity (GO:0007190)|cell-cell signaling (GO:0007267)|negative regulation of smooth muscle cell proliferation (GO:0048662)|signal transduction (GO:0007165) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|vasoactive intestinal polypeptide receptor activity (GO:0004999) central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 22 Ovarian(565;0.152) all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00231) UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18) CACACATGGAGACTGTGCCCT 0.642 NA G||| 358 0.0714856 0.1195 0.0634 5008 , , NA 14078 0.1409 NA 0.0089 False NA ,,, NA NA NA 2504 0.0051 NA NA NA Pancreas(154;1876 1931 2329 17914 20079) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CA449700, X95097 CCDS5950.1 7q36.3 2012-08-10 ENSG00000106018 ENSG00000106018 7434 GPCR / Class B : VIP and PACAP (ADCYAP1) receptors 12695 protein-coding gene gene with protein product VIP and PACAP receptor 2 601970 NA 7811244 Standard NM_003382 NM_003382 NA Approved VPAC2, VPAC2R uc003woh.3 P41587 OTTHUMG00000151446 ENST00000262178.2:c.*1282C>T chr7.hg19:g.158822025G>A NA Q13053|Q15870|Q53Y09|Q6ZN22|Q9UCW0 hg19 CCDS5950.1 0.02 12.872976 GGAxACT COVERED NOVEL VIPR2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322675.1 4 33.707825 KEEP 0 0 0 112 3942 GG 1 1 0 - 21 60 743 0 0 50.945806 290 60 10882 528 ENST00000262178.2 0.067524 1 VIPR2 7434 __UNKNOWN__ __UNKNOWN__ 7 158822689 158822689 __UNKNOWN__ 3'UTR SNP G G A rs115794009 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:158822689G>A ENST00000262178.2 - 0 2120 NM_003382.4 NP_003373.2 P41587 VIPR2_HUMAN vasoactive intestinal peptide receptor 2 NA NA activation of adenylate cyclase activity (GO:0007190)|cell-cell signaling (GO:0007267)|negative regulation of smooth muscle cell proliferation (GO:0048662)|signal transduction (GO:0007165) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|vasoactive intestinal polypeptide receptor activity (GO:0004999) central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 22 Ovarian(565;0.152) all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00231) UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18) CCCGGTGGTCGCCCAGGCTCG 0.647 NA G||| 259 0.0517173 0.0492 0.0562 5008 , , NA 15214 0.1409 NA 0.008 False NA ,,, NA NA NA 2504 0.0051 NA NA NA Pancreas(154;1876 1931 2329 17914 20079) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CA449700, X95097 CCDS5950.1 7q36.3 2012-08-10 ENSG00000106018 ENSG00000106018 7434 GPCR / Class B : VIP and PACAP (ADCYAP1) receptors 12695 protein-coding gene gene with protein product VIP and PACAP receptor 2 601970 NA 7811244 Standard NM_003382 NM_003382 NA Approved VPAC2, VPAC2R uc003woh.3 P41587 OTTHUMG00000151446 ENST00000262178.2:c.*618C>T chr7.hg19:g.158822689G>A NA Q13053|Q15870|Q53Y09|Q6ZN22|Q9UCW0 hg19 CCDS5950.1 0.02 12.185452 GTCxCCC COVERED NOVEL VIPR2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322675.1 7 54.030396 KEEP 0 2 58 200 6745 GG 1 1 0 - 11 60 388 0 0 23.038319 325 60 11007 691 ENST00000262178.2 0.032738 1 VIPR2 7434 __UNKNOWN__ __UNKNOWN__ 7 158823084 158823084 __UNKNOWN__ 3'UTR SNP T T G rs34621730 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:158823084T>G ENST00000262178.2 - 0 1725 NM_003382.4 NP_003373.2 P41587 VIPR2_HUMAN vasoactive intestinal peptide receptor 2 NA NA activation of adenylate cyclase activity (GO:0007190)|cell-cell signaling (GO:0007267)|negative regulation of smooth muscle cell proliferation (GO:0048662)|signal transduction (GO:0007165) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|vasoactive intestinal polypeptide receptor activity (GO:0004999) central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 22 Ovarian(565;0.152) all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00231) UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18) TGAAACACATTTTGCACAAGA 0.438 NA T||| 1429 0.285343 0.0613 0.2493 5008 , , NA 14319 0.5466 NA 0.2505 False NA ,,, NA NA NA 2504 0.3804 NA NA NA Pancreas(154;1876 1931 2329 17914 20079) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CA449700, X95097 CCDS5950.1 7q36.3 2012-08-10 ENSG00000106018 ENSG00000106018 7434 GPCR / Class B : VIP and PACAP (ADCYAP1) receptors 12695 protein-coding gene gene with protein product VIP and PACAP receptor 2 601970 NA 7811244 Standard NM_003382 NM_003382 NA Approved VPAC2, VPAC2R uc003woh.3 P41587 OTTHUMG00000151446 ENST00000262178.2:c.*223A>C chr7.hg19:g.158823084T>G NA Q13053|Q15870|Q53Y09|Q6ZN22|Q9UCW0 hg19 CCDS5950.1 0.02 -0.34214 CATxTTG COVERED NOVEL VIPR2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322675.1 3 15.037985 KEEP 0 0 0 50 1479 TT 1 0.865745 0 - 6 60 228 0 0 18.391847 33 60 1168 120 ENST00000262178.2 0.153846 0.865745 VIPR2 7434 __UNKNOWN__ __UNKNOWN__ 7 158827326 158827326 __UNKNOWN__ Silent SNP G G A rs2071624 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:158827326G>A ENST00000262178.2 - 9 1010 c.825C>T c.(823-825)aaC>aaT p.N275N VIPR2_ENST00000402066.1_Silent_p.N416N|VIPR2_ENST00000377633.3_Silent_p.N259N NM_003382.4 NP_003373.2 P41587 VIPR2_HUMAN vasoactive intestinal peptide receptor 2 275 NA activation of adenylate cyclase activity (GO:0007190)|cell-cell signaling (GO:0007267)|negative regulation of smooth muscle cell proliferation (GO:0048662)|signal transduction (GO:0007165) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|vasoactive intestinal polypeptide receptor activity (GO:0004999) central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 22 Ovarian(565;0.152) all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00231) UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18) CACTGTGGTCGTTTGTATCCC 0.483 NA G||| 1739 0.347244 0.2383 0.2723 5008 , , NA 20595 0.5962 NA 0.2525 False NA ,,, NA NA NA 2504 0.3885 NA NA NA Pancreas(154;1876 1931 2329 17914 20079) NA 0 G 916,3490 348.7+/-310.1 95,726,1382 119 107 111 825 -3.8 0.9 7 dbSNP_96 111 1565,7035 293.8+/-301.5 131,1303,2866 no coding-synonymous VIPR2 NM_003382.4 226,2029,4248 AA,AG,GG 18.1977,20.7898,19.0758 275/439 158827326 2481,10525 2203 4300 6503 SO:0001819 synonymous_variant CA449700, X95097 CCDS5950.1 7q36.3 2012-08-10 ENSG00000106018 ENSG00000106018 7434 GPCR / Class B : VIP and PACAP (ADCYAP1) receptors 12695 protein-coding gene gene with protein product VIP and PACAP receptor 2 601970 NA 7811244 Standard NM_003382 NM_003382 NA Approved VPAC2, VPAC2R uc003woh.3 P41587 OTTHUMG00000151446 ENST00000262178.2:c.825C>T chr7.hg19:g.158827326G>A NA Q13053|Q15870|Q53Y09|Q6ZN22|Q9UCW0 hg19 CCDS5950.1 0.02 9.696027 GTCxTTT COVERED NOVEL VIPR2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322675.1 1 10.063947 KEEP 0 1 24 42 1446 GG 1 1 0 - 13 60 496 0 0 34.947923 186 60 6646 309 ENST00000262178.2 0.065327 1 VIPR2 7434 __UNKNOWN__ __UNKNOWN__ 7 158896517 158896517 __UNKNOWN__ Silent SNP G G A rs2270313 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:158896517G>A ENST00000262178.2 - 4 473 c.288C>T c.(286-288)gaC>gaT p.D96D VIPR2_ENST00000402066.1_Silent_p.D237D NM_003382.4 NP_003373.2 P41587 VIPR2_HUMAN vasoactive intestinal peptide receptor 2 96 NA activation of adenylate cyclase activity (GO:0007190)|cell-cell signaling (GO:0007267)|negative regulation of smooth muscle cell proliferation (GO:0048662)|signal transduction (GO:0007165) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|vasoactive intestinal polypeptide receptor activity (GO:0004999) central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 22 Ovarian(565;0.152) all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00231) UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18) CTGACCATCCGTCACTCGTAC 0.507 NA G||| 1206 0.240815 0.3185 0.1873 5008 , , NA 20770 0.1974 NA 0.2485 False NA ,,, NA NA NA 2504 0.2106 NA NA NA Pancreas(154;1876 1931 2329 17914 20079) NA 0 G 1334,3072 447.9+/-348.5 214,906,1083 235 192 206 288 -7.6 0.2 7 dbSNP_100 206 1995,6605 350.5+/-327.9 225,1545,2530 no coding-synonymous VIPR2 NM_003382.4 439,2451,3613 AA,AG,GG 23.1977,30.2769,25.5959 96/439 158896517 3329,9677 2203 4300 6503 SO:0001819 synonymous_variant CA449700, X95097 CCDS5950.1 7q36.3 2012-08-10 ENSG00000106018 ENSG00000106018 7434 GPCR / Class B : VIP and PACAP (ADCYAP1) receptors 12695 protein-coding gene gene with protein product VIP and PACAP receptor 2 601970 NA 7811244 Standard NM_003382 NM_003382 NA Approved VPAC2, VPAC2R uc003woh.3 P41587 OTTHUMG00000151446 ENST00000262178.2:c.288C>T chr7.hg19:g.158896517G>A NA Q13053|Q15870|Q53Y09|Q6ZN22|Q9UCW0 hg19 CCDS5950.1 0.02 13.962139 TCCxTCA COVERED 560 0.2564102564102564 169 0.3434959349593496 76 0.20994475138121546 127 0.22202797202797203 188 0.24802110817941952 G 0.289 -0.981342 0.02197 0.302769 0.231977 ENSG00000106018 ENST00000418475 . . . 5.0 -7.55 0.01327 . . . . . T 0.00012 0.0000 . . . 0.21841 P 0.999511805 . . . . . . T 0.24621 -1.0155 3 . . . . 9.5043 0.39037 0.7778:0.0:0.1167:0.1054 rs2270313;rs2270313 . . . W 92 . . R - 1 2 VIPR2 158589278 0.647000 0.27304 0.188000 0.23233 0.014000 0.08584 -0.332000 0.07904 -1.063000 0.03177 -1.012000 0.02466 CGG NOVEL VIPR2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322675.1 0 24.674339 KEEP 0 0 0 82 2844 GG 1 1 0 - 18 60 621 0 0 41.221018 286 60 9922 486 ENST00000262178.2 0.059211 1 VIPR2 7434 __UNKNOWN__ __UNKNOWN__ 7 158896624 158896624 __UNKNOWN__ Intron SNP C C G rs2270314 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:158896624C>G ENST00000262178.2 - 4 445 VIPR2_ENST00000402066.1_Intron NM_003382.4 NP_003373.2 P41587 VIPR2_HUMAN vasoactive intestinal peptide receptor 2 NA NA activation of adenylate cyclase activity (GO:0007190)|cell-cell signaling (GO:0007267)|negative regulation of smooth muscle cell proliferation (GO:0048662)|signal transduction (GO:0007165) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|vasoactive intestinal polypeptide receptor activity (GO:0004999) central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 22 Ovarian(565;0.152) all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00231) UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18) CGTGCTGAGCCCGTGCTCTAT 0.478 NA C||| 565 0.112819 0.0378 0.1124 5008 , , NA 19490 0.1518 NA 0.162 False NA ,,, NA NA NA 2504 0.1237 NA NA NA Pancreas(154;1876 1931 2329 17914 20079) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CA449700, X95097 CCDS5950.1 7q36.3 2012-08-10 ENSG00000106018 ENSG00000106018 7434 GPCR / Class B : VIP and PACAP (ADCYAP1) receptors 12695 protein-coding gene gene with protein product VIP and PACAP receptor 2 601970 NA 7811244 Standard NM_003382 NM_003382 NA Approved VPAC2, VPAC2R uc003woh.3 P41587 OTTHUMG00000151446 ENST00000262178.2:c.260-79G>C chr7.hg19:g.158896624C>G NA Q13053|Q15870|Q53Y09|Q6ZN22|Q9UCW0 hg19 CCDS5950.1 0.02 6.455461 AGCxCGT COVERED NOVEL VIPR2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322675.1 2 10.834653 KEEP 0 0 0 36 1244 CC 0.999999 0.999999 0 - 9 60 316 0 0 20.569779 163 60 5808 231 ENST00000262178.2 0.052326 1 VIPR2 7434 __UNKNOWN__ __UNKNOWN__ 7 158930775 158930775 __UNKNOWN__ Intron SNP G G A rs3812312 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr7:158930775G>A ENST00000421760.2 - 2 232 VIPR2_ENST00000402066.1_Intron|VIPR2_ENST00000262178.2_Intron P41587 VIPR2_HUMAN vasoactive intestinal peptide receptor 2 NA NA activation of adenylate cyclase activity (GO:0007190)|cell-cell signaling (GO:0007267)|negative regulation of smooth muscle cell proliferation (GO:0048662)|signal transduction (GO:0007165) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|vasoactive intestinal polypeptide receptor activity (GO:0004999) central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 22 Ovarian(565;0.152) all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00231) UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18) CACGAACAGCGAGCTCCCACC 0.557 NA G||| 565 0.112819 0.0741 0.1095 5008 , , NA 19107 0.1419 NA 0.1551 False NA ,,, NA NA NA 2504 0.0941 NA NA NA Pancreas(154;1876 1931 2329 17914 20079) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CA449700, X95097 CCDS5950.1 7q36.3 2012-08-10 ENSG00000106018 ENSG00000106018 7434 GPCR / Class B : VIP and PACAP (ADCYAP1) receptors 12695 protein-coding gene gene with protein product VIP and PACAP receptor 2 601970 NA 7811244 Standard NM_003382 NM_003382 NA Approved VPAC2, VPAC2R uc003woh.3 P41587 OTTHUMG00000151446 ENST00000421760.2:c.151+4362C>T chr7.hg19:g.158930775G>A NA Q13053|Q15870|Q53Y09|Q6ZN22|Q9UCW0 hg19 0.02 3.98291 AGCxAGC COVERED NOVEL VIPR2-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000322678.3 0 9.629586 KEEP 0 0 0 32 1044 GG 0.999997 0.999997 0 - 7 60 255 0 0 16.887744 128 60 4628 192 ENST00000421760.2 0.051852 1 ZNF596 169270 __UNKNOWN__ __UNKNOWN__ 8 183002 183002 __UNKNOWN__ 3'UTR SNP G G A rs28488353 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:183002G>A ENST00000521238.2 + 0 417 ZNF596_ENST00000308811.4_Intron|ZNF596_ENST00000320552.2_Intron|ZNF596_ENST00000398612.1_Intron Q8TC21 ZN596_HUMAN zinc finger protein 596 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(5) 14 all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242) Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702) TGAGAAGCGGGCTCTTCCTTG 0.592 NA .||| 466 0.0930511 0.0083 0.1556 5008 , , NA 23202 0.1865 NA 0.0746 False NA ,,, NA NA NA 2504 0.0859 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC026190 CCDS5951.2 8p23.3 2013-01-08 ENSG00000172748 ENSG00000172748 169270 Zinc fingers, C2H2-type, - 27268 protein-coding gene gene with protein product NA 12477932 Standard NM_173539 NM_001287256 NA Approved uc003wot.3 Q8TC21 OTTHUMG00000086931 ENST00000521238.2:c.*414G>A chr8.hg19:g.183002G>A NA B2R8P4|O95015|Q8N9X0 hg19 0.02 10.05675 CGGxCTC COVERED NOVEL ZNF596-006 KNOWN basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000376347.2 0 32.200655 KEEP 2 0 0 107 3709 GG 1 1 0 + 15 60 494 0 0 31.709567 245 60 8702 452 ENST00000521238.2 0.057692 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 250564 250564 __UNKNOWN__ IGR SNP G G A rs143275215 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:250564G>A NA NA ZNF596 (53222 upstream) : RP11-63E5.6 (4741 downstream) NA NA NA GCAGGAAGGTGAGCAGACTCC 0.537 NA G||| 107 0.0213658 0.0303 0.013 5008 , , NA 18647 0.0496 NA 0.002 False NA ,,, NA NA NA 2504 0.0061 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr8.hg19:g.250564G>A NA hg19 0.02 3.513987 GGTxAGC COVERED NOVEL 0 1 8.126053 KEEP 47 0 0 27 925 GG 0.994391 0.994391 0 7 40 231 0 0 14.344446 136 42 4979 253 0.048951 1 RP11-63E5.6 0 __UNKNOWN__ __UNKNOWN__ 8 261128 261128 __UNKNOWN__ RNA SNP C C T rs11986765 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:261128C>T ENST00000517765.2 - 0 369 NA NA NA aatgtctccacctACCCAAGA 0.527 NA T||| 749 0.149561 0.4796 0.0519 5008 , , NA 20529 0.0466 NA 0.006 False NA ,,, NA NA NA 2504 0.0266 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000517765.2: chr8.hg19:g.261128C>T NA hg19 0.02 4.372096 CCAxCTA COVERED NOVEL RP11-63E5.6-005 KNOWN non_canonical_other|not_best_in_genome_evidence|basic processed_transcript NA processed_transcript OTTHUMT00000376437.2 0 3.310599 KEEP 0 0 0 11 375 CC 0.993072 0.99305 0 - 5 60 184 0 0 12.123061 97 60 3621 123 ENST00000517765.2 0.04902 0.999978 RP11-63E5.6 0 __UNKNOWN__ __UNKNOWN__ 8 261261 261261 __UNKNOWN__ RNA SNP A A G rs11988210 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:261261A>G ENST00000517765.2 - 0 240 NA NA NA GGAATGAAGAACTCCACAGAA 0.473 NA A||| 749 0.149561 0.4796 0.0519 5008 , , NA 23210 0.0466 NA 0.006 False NA ,,, NA NA NA 2504 0.0266 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000517765.2: chr8.hg19:g.261261A>G NA hg19 0.02 10.092966 AGAxCTC COVERED 265 0.12133699633699634 214 0.4349593495934959 16 0.04419889502762431 32 0.055944055944055944 3 0.00395778364116095 . 1.421 -0.572982 0.03882 . . ENSG00000249868 ENST00000517765 . . . 0.708 -1.42 0.08913 . . . . . T 0.00012 0.0000 . . . . . . . . . . . . T 0.41484 -0.9506 3 0.87932 D 0 . . . . rs11988210;rs56600306;rs11988210 . . . L 53 . ENSP00000429072:F53L F - 1 0 RP11-63E5.6 251261 0.000000 0.05858 0.000000 0.03702 0.006000 0.05464 -1.046000 0.03525 -1.425000 0.01997 -0.756000 0.03474 TTC NOVEL RP11-63E5.6-005 KNOWN non_canonical_other|not_best_in_genome_evidence|basic processed_transcript NA processed_transcript OTTHUMT00000376437.2 1 7.823704 KEEP 0 0 0 26 811 AA 0.999957 0.999957 0 - 9 60 354 0 0 23.323075 214 60 7671 315 ENST00000517765.2 0.040359 1 FBXO25 26260 __UNKNOWN__ __UNKNOWN__ 8 401493 401493 __UNKNOWN__ Intron SNP T T C rs6651443 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:401493T>C ENST00000350302.3 + 7 926 FBXO25_ENST00000276326.5_Intron|FBXO25_ENST00000382824.1_Intron|FBXO25_ENST00000352684.2_Intron NM_183420.1 NP_904356.1 Q8TCJ0 FBX25_HUMAN F-box protein 25 NA NA protein ubiquitination (GO:0016567) nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151) ubiquitin-protein transferase activity (GO:0004842) cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1) 10 Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122) Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06) CACTCTGTTTTTATATTACAG 0.313 NA T||| 1472 0.29393 0.3245 0.1945 5008 , , NA 18420 0.3998 NA 0.2495 False NA ,,, NA NA NA 2504 0.2597 NA NA NA NA 0 T ,, 1260,3142 187,886,1128 36 40 39 ,, -2.3 0 8 dbSNP_116 39 2000,6596 236,1528,2534 no intron,intron,intron FBXO25 NM_012173.3,NM_183420.1,NM_183421.1 ,, 423,2414,3662 CC,CT,TT 23.2666,28.6234,25.0808 ,, ,, 401493 3260,9738 2201 4298 6499 SO:0001627 intron_variant AF174605 CCDS5952.1, CCDS5953.1, CCDS5954.1 8p23.3 2007-03-30 2004-06-15 ENSG00000147364 ENSG00000147364 26260 F-boxes / other 13596 protein-coding gene gene with protein product 609098 F-box only protein 25 NA 10531035, 10531037 Standard NM_012173 NM_012173 NA Approved FBX25 uc003wox.3 Q8TCJ0 OTTHUMG00000090341 ENST00000350302.3:c.660+40T>C chr8.hg19:g.401493T>C NA Q6PJ83|Q7Z4V4|Q9UKB8 hg19 CCDS5952.1 0.02 6.29358 TTTxTAT COVERED NOVEL FBXO25-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000206711.1 2 5.417144 KEEP 0 0 0 18 594 TT 0.999859 0.999859 0 + 9 60 309 0 0 19.827711 170 60 6022 208 ENST00000350302.3 0.050279 1 FBXO25 26260 __UNKNOWN__ __UNKNOWN__ 8 418993 418993 __UNKNOWN__ 3'UTR SNP G G C rs8049 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:418993G>C ENST00000350302.3 + 0 1532 FBXO25_ENST00000276326.5_3'UTR|FBXO25_ENST00000382824.1_3'UTR|FBXO25_ENST00000352684.2_3'UTR NM_183420.1 NP_904356.1 Q8TCJ0 FBX25_HUMAN F-box protein 25 NA NA protein ubiquitination (GO:0016567) nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151) ubiquitin-protein transferase activity (GO:0004842) cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1) 10 Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122) Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06) CAGAGGCCAAGGAAATCATTT 0.403 NA G||| 989 0.197484 0.3729 0.1441 5008 , , NA 17014 0.0942 NA 0.1769 False NA ,,, NA NA NA 2504 0.1258 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF174605 CCDS5952.1, CCDS5953.1, CCDS5954.1 8p23.3 2007-03-30 2004-06-15 ENSG00000147364 ENSG00000147364 26260 F-boxes / other 13596 protein-coding gene gene with protein product 609098 F-box only protein 25 NA 10531035, 10531037 Standard NM_012173 NM_012173 NA Approved FBX25 uc003wox.3 Q8TCJ0 OTTHUMG00000090341 ENST00000350302.3:c.*189G>C chr8.hg19:g.418993G>C NA Q6PJ83|Q7Z4V4|Q9UKB8 hg19 CCDS5952.1 0.02 1.560865 CAAxGAA COVERED NOVEL FBXO25-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000206711.1 2 2.407868 KEEP 0 0 0 8 286 GG 0.99257 0.992062 0 + 4 60 134 0 0 8.372141 78 70 2900 94 ENST00000350302.3 0.04878 0.999487 TDRP 157695 __UNKNOWN__ __UNKNOWN__ 8 440424 440424 __UNKNOWN__ 3'UTR SNP A A G rs13429 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:440424A>G ENST00000324079.6 - 0 2773 TDRP_ENST00000427263.2_3'UTR|TDRP_ENST00000523656.1_3'UTR Q86YL5 TDRP_HUMAN testis development related protein NA NA spermatogenesis (GO:0007283) cytoplasm (GO:0005737)|nucleus (GO:0005634) NA GCAGGCACTTAGCGTTCCAAC 0.493 NA A||| 2154 0.430112 0.4561 0.4121 5008 , , NA 17638 0.3651 NA 0.4761 False NA ,,, NA NA NA 2504 0.4274 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY194292 CCDS47759.1, CCDS59090.1 8p23.3 2013-06-03 2013-06-03 2013-06-03 ENSG00000180190 ENSG00000180190 157695 26951 protein-coding gene gene with protein product chromosome 8 open reading frame 42 C8orf42 NA 20170638 Standard NM_175075 NM_175075 NA Approved INM01, TDRP1, TDRP2 Q86YL5 OTTHUMG00000163593 ENST00000324079.6:c.*1975T>C chr8.hg19:g.440424A>G NA B6VF03|B9EG53 hg19 CCDS47759.1 0.02 14.280903 CTTxGCG COVERED NOVEL TDRP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000374442.1 0 9.693279 KEEP 0 2 71 57 1744 AA 1 1 0 - 10 60 387 0 0 23.797107 337 60 12271 471 ENST00000324079.6 0.028818 1 TDRP 157695 __UNKNOWN__ __UNKNOWN__ 8 441776 441776 __UNKNOWN__ 3'UTR SNP C C T rs2278764 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:441776C>T ENST00000324079.6 - 0 1421 TDRP_ENST00000427263.2_Intron|TDRP_ENST00000523656.1_Intron Q86YL5 TDRP_HUMAN testis development related protein NA NA spermatogenesis (GO:0007283) cytoplasm (GO:0005737)|nucleus (GO:0005634) NA TGTTACTATCCAGTGGACATA 0.318 NA C||| 933 0.186302 0.0666 0.3012 5008 , , NA 18674 0.3016 NA 0.1481 False NA ,,, NA NA NA 2504 0.1871 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY194292 CCDS47759.1, CCDS59090.1 8p23.3 2013-06-03 2013-06-03 2013-06-03 ENSG00000180190 ENSG00000180190 157695 26951 protein-coding gene gene with protein product chromosome 8 open reading frame 42 C8orf42 NA 20170638 Standard NM_175075 NM_175075 NA Approved INM01, TDRP1, TDRP2 Q86YL5 OTTHUMG00000163593 ENST00000324079.6:c.*623G>A chr8.hg19:g.441776C>T NA B6VF03|B9EG53 hg19 CCDS47759.1 0.02 4.860481 ATCxAGT COVERED NOVEL TDRP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000374442.1 2 6.922255 KEEP 0 0 0 23 807 CC 0.999892 0.999892 0 - 9 60 341 0 0 24.284699 118 60 4451 192 ENST00000324079.6 0.070866 1 DLGAP2 9228 __UNKNOWN__ __UNKNOWN__ 8 1497018 1497018 __UNKNOWN__ Silent SNP C C T rs60089073 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:1497018C>T ENST00000421627.2 + 2 293 c.159C>T c.(157-159)caC>caT p.H53H NM_004745.3 NP_004736.2 Q9P1A6 DLGP2_HUMAN discs, large (Drosophila) homolog-associated protein 2 132 NA neuron-neuron synaptic transmission (GO:0007270) cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211) breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) GGGGGCGCCACCGCTGCTCGC 0.741 NA C||| 73 0.0145767 0.0 0.0 5008 , , NA 10702 0.0694 NA 0.0 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 C 2,3674 0,2,1836 6 7 7 159 2.1 1 8 dbSNP_129 7 2,7740 0,2,3869 no coding-synonymous DLGAP2 NM_004745.3 0,4,5705 TT,TC,CC 0.0258,0.0544,0.035 53/976 1497018 4,11414 1838 3871 5709 SO:0001819 synonymous_variant AB000275 CCDS47760.1, CCDS75689.1 8p23 2007-12-06 2001-11-28 ENSG00000198010 ENSG00000198010 9228 2906 protein-coding gene gene with protein product 605438 discs, large (Drosophila) homolog-associated protein 2 NA 9286858, 10854099 Standard NM_004745 NM_004745 NA Approved DAP-2 uc003wpl.4 Q9P1A6 OTTHUMG00000163599 ENST00000421627.2:c.159C>T chr8.hg19:g.1497018C>T NA A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7 hg19 CCDS47760.1 0.02 4.226417 CCAxCGC COVERED 33 0.01510989010989011 3 0.006097560975609756 2 0.0055248618784530384 26 0.045454545454545456 2 0.002638522427440633 C 10.63 1.403217 0.25291 5.44E-4 2.58E-4 ENSG00000198010 ENST00000520901 . . . 5.34 2.14 0.27477 . . . . . T 0.19208 0.0461 . . . 0.80722 D 1 . . . . . . T 0.17837 -1.0356 4 . . . -13.4029 9.4374 0.38648 0.0:0.6459:0.0:0.3541 rs60089073 . . . I 70 . . T + 2 0 DLGAP2 1484425 1.000000 0.71417 0.968000 0.41197 0.984000 0.73092 2.690000 0.47001 0.624000 0.30286 0.561000 0.74099 ACC NOVEL DLGAP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000374478.1 0 6.901101 KEEP 0 0 0 23 762 CC 0.999892 0.999892 0 + 6 60 214 0 0 13.688659 125 60 4407 170 ENST00000421627.2 0.045802 1 DLGAP2 9228 __UNKNOWN__ __UNKNOWN__ 8 1652879 1652879 __UNKNOWN__ 3'UTR SNP A A C rs2972175 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:1652879A>C ENST00000421627.2 + 0 6369 NM_004745.3 NP_004736.2 Q9P1A6 DLGP2_HUMAN discs, large (Drosophila) homolog-associated protein 2 NA NA neuron-neuron synaptic transmission (GO:0007270) cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211) breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) CAAGCACTTAATGGAAAGGTA 0.284 NA A||| 1192 0.238019 0.1536 0.2493 5008 , , NA 17985 0.3869 NA 0.16 False NA ,,, NA NA NA 2504 0.271 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB000275 CCDS47760.1, CCDS75689.1 8p23 2007-12-06 2001-11-28 ENSG00000198010 ENSG00000198010 9228 2906 protein-coding gene gene with protein product 605438 discs, large (Drosophila) homolog-associated protein 2 NA 9286858, 10854099 Standard NM_004745 NM_004745 NA Approved DAP-2 uc003wpl.4 Q9P1A6 OTTHUMG00000163599 ENST00000421627.2:c.*3307A>C chr8.hg19:g.1652879A>C NA A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7 hg19 CCDS47760.1 0.02 6.654199 TTAxTGG COVERED NOVEL DLGAP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000374478.1 4 8.659881 KEEP 0 1 38 42 1303 AA 1 1 0 + 9 60 343 0 0 23.261415 163 60 6006 262 ENST00000421627.2 0.052326 1 ARHGEF10 9639 __UNKNOWN__ __UNKNOWN__ 8 1817367 1817367 __UNKNOWN__ Silent SNP G G A rs7003969 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:1817367G>A ENST00000349830.3 + 7 815 c.630G>A c.(628-630)gaG>gaA p.E210E ARHGEF10_ENST00000398560.1_Silent_p.E235E|ARHGEF10_ENST00000520359.1_Silent_p.E211E|ARHGEF10_ENST00000398564.1_Silent_p.E235E|ARHGEF10_ENST00000518288.1_Silent_p.E235E|ARHGEF10_ENST00000262112.6_Silent_p.E235E NM_014629.2 NP_055444.2 O15013 ARHGA_HUMAN Rho guanine nucleotide exchange factor (GEF) 10 235 NA centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307) centrosome (GO:0005813)|cytosol (GO:0005829) kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1) 35 Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834) COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718) CAGATCCAGAGGAAGCAATTT 0.428 NA A||| 1181 0.235823 0.0983 0.2061 5008 , , NA 18247 0.5179 NA 0.2157 False NA ,,, NA NA NA 2504 0.1728 NA NA NA NA 0 A 509,3897 778.8+/-414.3 28,453,1722 117 114 115 630 2 1 8 dbSNP_116 115 2033,6567 720.2+/-406.3 255,1523,2522 no coding-synonymous ARHGEF10 NM_014629.2 283,1976,4244 AA,AG,GG 23.6395,11.5524,19.5448 210/1345 1817367 2542,10464 2203 4300 6503 SO:0001819 synonymous_variant AF009205 CCDS34794.1 8p23 2014-09-17 ENSG00000104728 ENSG00000104728 9639 Rho guanine nucleotide exchange factors 14103 protein-coding gene gene with protein product 608136 NA 9205841, 16896804 Standard XM_005266039 NA Approved KIAA0294, Gef10 uc003wpr.3 O15013 OTTHUMG00000163626 ENST00000349830.3:c.630G>A chr8.hg19:g.1817367G>A NA O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77 hg19 CCDS34794.1 0.02 6.705197 AGAxGAA COVERED NOVEL ARHGEF10-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000374589.1 2 13.544745 KEEP 0 0 0 45 1653 GG 1 1 0 + 8 60 275 0 0 17.242929 181 60 6901 288 ENST00000349830.3 0.042328 1 ARHGEF10 9639 __UNKNOWN__ __UNKNOWN__ 8 1905132 1905132 __UNKNOWN__ Silent SNP G G A rs3735876 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:1905132G>A ENST00000349830.3 + 29 3923 c.3738G>A c.(3736-3738)tcG>tcA p.S1246S ARHGEF10_ENST00000521927.1_3'UTR|ARHGEF10_ENST00000520359.1_Silent_p.S1208S|ARHGEF10_ENST00000398564.1_Silent_p.S1271S|ARHGEF10_ENST00000518288.1_Silent_p.S1270S|ARHGEF10_ENST00000262112.6_Silent_p.S1242S NM_014629.2 NP_055444.2 O15013 ARHGA_HUMAN Rho guanine nucleotide exchange factor (GEF) 10 1271 NA centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307) centrosome (GO:0005813)|cytosol (GO:0005829) kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1) 35 Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834) COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718) TGGGAGATTCGCTGGGATCGA 0.577 NA G||| 1843 0.368011 0.2133 0.2349 5008 , , NA 18564 0.5714 NA 0.4016 False NA ,,, NA NA NA 2504 0.4274 NA NA NA NA 0 G 1172,3234 413.7+/-336.6 160,852,1191 134 127 129 3738 -11.2 0 8 dbSNP_107 129 3323,5277 495.2+/-374.0 630,2063,1607 no coding-synonymous ARHGEF10 NM_014629.2 790,2915,2798 AA,AG,GG 38.6395,26.6001,34.561 1246/1345 1905132 4495,8511 2203 4300 6503 SO:0001819 synonymous_variant AF009205 CCDS34794.1 8p23 2014-09-17 ENSG00000104728 ENSG00000104728 9639 Rho guanine nucleotide exchange factors 14103 protein-coding gene gene with protein product 608136 NA 9205841, 16896804 Standard XM_005266039 NA Approved KIAA0294, Gef10 uc003wpr.3 O15013 OTTHUMG00000163626 ENST00000349830.3:c.3738G>A chr8.hg19:g.1905132G>A NA O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77 hg19 CCDS34794.1 0.02 12.612472 TTCxCTG COVERED NOVEL ARHGEF10-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000374589.1 0 4.954743 KEEP 0 4 109 55 1944 GG 1 1 0 + 14 60 496 0 0 31.323255 306 60 10921 455 ENST00000349830.3 0.04375 1 MYOM2 9172 __UNKNOWN__ __UNKNOWN__ 8 2048831 2048831 __UNKNOWN__ Missense_Mutation SNP A A G rs968381 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:2048831A>G ENST00000262113.4 + 20 2747 c.2606A>G c.(2605-2607)aAc>aGc p.N869S MYOM2_ENST00000523438.1_Missense_Mutation_p.N294S NM_003970.2 NP_003961.2 P54296 MYOM2_HUMAN myomesin 2 869 Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}. NA N -> S (in dbSNP:rs968381). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:7505783}. muscle contraction (GO:0006936) M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982) structural constituent of muscle (GO:0008307) autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) ACAACAGCCAACCGTTATTTA 0.527 NA A||| 2306 0.460463 0.6831 0.3573 5008 , , NA 18243 0.4048 NA 0.335 False NA ,,, NA NA NA 2504 0.4192 NA NA NA NA 0 A SER/ASN 2828,1578 659.7+/-400.6 920,988,295 65 70 68 2606 4.4 0 8 dbSNP_86 68 2853,5747 443.3+/-360.3 494,1865,1941 yes missense MYOM2 NM_003970.2 46 1414,2853,2236 GG,GA,AA 33.1744,35.8148,43.6798 benign 869/1466 2048831 5681,7325 2203 4300 6503 SO:0001583 missense CCDS5957.1 8p23.3 2014-06-06 2012-10-17 ENSG00000036448 ENSG00000036448 9172 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing 7614 protein-coding gene gene with protein product 603509 myomesin (M-protein) 2 (165kD), myomesin (M-protein) 2, 165kDa NA Standard NM_003970 XM_006716237 NA Approved uc003wpx.4 P54296 OTTHUMG00000129175 ENST00000262113.4:c.2606A>G chr8.hg19:g.2048831A>G ENSP00000262113:p.Asn869Ser NA Q7Z3Y2 hg19 CCDS5957.1 0.02 11.699154 CCAxCCG COVERED 928 0.4249084249084249 318 0.6463414634146342 133 0.3674033149171271 227 0.3968531468531469 250 0.32981530343007914 A 5.934 0.356400 0.11239 0.641852 0.331744 ENSG00000036448 ENST00000262113;ENST00000523438 T;T 0.56941 0.43;0.43 5.55 4.38 0.52667 Fibronectin, type III (4);Immunoglobulin-like fold (1); 0.278757 0.39210 N 0.001422 T 0.00012 0.0000 L 0.33137 0.985 0.53688 P 2.199999999996649E-5 B 0.15473 0.013 B 0.17979 0.02 T 0.41502 -0.9505 9 0.34782 T 0.22 . 11.4648 0.50232 0.9293:0.0:0.0707:0.0 rs968381;rs3758066;rs17857421;rs52824117;rs57664364;rs968381 869 P54296 MYOM2_HUMAN S 869;294 ENSP00000262113:N869S;ENSP00000428396:N294S ENSP00000262113:N869S N + 2 0 MYOM2 2036238 0.543000 0.26434 0.016000 0.15963 0.004000 0.04260 3.935000 0.56560 0.937000 0.37394 0.523000 0.50628 AAC NOVEL MYOM2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251249.1 5 11.73269 KEEP 0 0 0 39 1158 AA 1 1 0 + 11 60 421 0 0 27.244358 267 60 9311 363 ENST00000262113.4 0.039568 1 CSMD1 64478 __UNKNOWN__ __UNKNOWN__ 8 2830843 2830843 __UNKNOWN__ Intron SNP G G A rs2670079 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:2830843G>A ENST00000520002.1 - 58 9299 CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000537824.1_Intron|CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000602557.1_Intron Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 NA NA integral component of membrane (GO:0016021) breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) AAACACATACGGCAATCCACA 0.393 NA G||| 747 0.149161 0.0673 0.0504 5008 , , NA 19859 0.2708 NA 0.1064 False NA ,,, NA NA NA 2504 0.2485 NA NA NA NA 0 G 285,3423 7,271,1576 122 120 121 3 0 8 dbSNP_100 121 930,7298 60,810,3244 no intron CSMD1 NM_033225.5 67,1081,4820 AA,AG,GG 11.3029,7.6861,10.1793 2830843 1215,10721 1854 4114 5968 SO:0001627 intron_variant 8p23.2 2012-04-17 ENSG00000183117 ENSG00000183117 64478 Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits 14026 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 24 608397 NA Standard NM_033225 NM_033225 NA Approved KIAA1890, PPP1R24 uc022aqr.1 Q96PZ7 OTTHUMG00000163605 ENST00000520002.1:c.8744-22C>T chr8.hg19:g.2830843G>A NA Q0H0J5|Q96QU9|Q96RM4 hg19 0.02 12.903894 TACxGCA COVERED NOVEL CSMD1-001 KNOWN basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000374500.2 0 5.553498 KEEP 0 1 33 30 1061 GG 0.999997 0.999997 0 - 9 60 340 0 0 20.479616 312 60 10960 439 ENST00000520002.1 0.028037 1 CSMD1 64478 __UNKNOWN__ __UNKNOWN__ 8 3265527 3265527 __UNKNOWN__ Silent SNP A A G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:3265527A>G ENST00000520002.1 - 15 2523 c.1968T>C c.(1966-1968)tcT>tcC p.S656S CSMD1_ENST00000400186.3_Silent_p.S656S|CSMD1_ENST00000539096.1_Silent_p.S655S|CSMD1_ENST00000537824.1_Silent_p.S655S|CSMD1_ENST00000602723.1_Silent_p.S656S|CSMD1_ENST00000542608.1_Silent_p.S655S|CSMD1_ENST00000602557.1_Silent_p.S656S Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 656 CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}. NA integral component of membrane (GO:0016021) breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CTTCATTGCCAGAAAAAGTAC 0.453 NA NA NA NA NA NA NA NA NA NA NA 0 86 78 81 NA NA 8 NA 3265527 1930 4137 6067 SO:0001819 synonymous_variant 8p23.2 2012-04-17 ENSG00000183117 ENSG00000183117 64478 Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits 14026 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 24 608397 NA Standard NM_033225 NM_033225 NA Approved KIAA1890, PPP1R24 uc022aqr.1 Q96PZ7 OTTHUMG00000163605 ENST00000520002.1:c.1968T>C chr8.hg19:g.3265527A>G NA Q0H0J5|Q96QU9|Q96RM4 hg19 0.02 12.047584 GCCxGAA COVERED . . . . . . . . . . A 9.630 1.136102 0.21123 . . ENSG00000183117 ENST00000335551 . . . 5.23 -0.571 0.11749 . . . . . T 0.42810 0.1219 . . . 0.80722 D 1 . . . . . . T 0.20840 -1.0263 4 . . . . 3.2326 0.06754 0.54:0.2594:0.0761:0.1244 . . . . R 136 . . W - 1 0 CSMD1 3252934 0.959000 0.32827 0.825000 0.32803 0.793000 0.44817 0.182000 0.16900 -0.340000 0.08388 0.383000 0.25322 TGG NOVEL CSMD1-001 KNOWN basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000374500.2 1 13.240698 KEEP 0 0 0 44 1405 AA 1 1 0 - 13 60 443 0 0 27.167402 293 60 10862 388 ENST00000520002.1 0.042484 1 CSMD1 64478 __UNKNOWN__ __UNKNOWN__ 8 3265590 3265590 __UNKNOWN__ Silent SNP C C T rs10088378 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:3265590C>T ENST00000520002.1 - 15 2460 c.1905G>A c.(1903-1905)caG>caA p.Q635Q CSMD1_ENST00000400186.3_Silent_p.Q635Q|CSMD1_ENST00000539096.1_Silent_p.Q634Q|CSMD1_ENST00000537824.1_Silent_p.Q634Q|CSMD1_ENST00000602723.1_Silent_p.Q635Q|CSMD1_ENST00000542608.1_Silent_p.Q634Q|CSMD1_ENST00000602557.1_Silent_p.Q635Q Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 635 CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}. NA integral component of membrane (GO:0016021) breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GAAAGTCAAACTGAGGCTCAA 0.463 NA c||| 3020 0.603035 0.7027 0.6527 5008 , , NA 19196 0.3383 NA 0.67 False NA ,,, NA NA NA 2504 0.637 NA NA NA NA 0 C 2583,1235 882,819,208 89 79 82 1902 2.4 1 8 dbSNP_119 82 5500,2738 1815,1870,434 no coding-synonymous CSMD1 NM_033225.5 2697,2689,642 TT,TC,CC 33.2362,32.3468,32.9545 634/3565 3265590 8083,3973 1909 4119 6028 SO:0001819 synonymous_variant 8p23.2 2012-04-17 ENSG00000183117 ENSG00000183117 64478 Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits 14026 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 24 608397 NA Standard NM_033225 NM_033225 NA Approved KIAA1890, PPP1R24 uc022aqr.1 Q96PZ7 OTTHUMG00000163605 ENST00000520002.1:c.1905G>A chr8.hg19:g.3265590C>T NA Q0H0J5|Q96QU9|Q96RM4 hg19 0.02 16.970771 AAAxTGA COVERED 1310 0.5998168498168498 360 0.7317073170731707 247 0.6823204419889503 205 0.3583916083916084 498 0.6569920844327177 c 1.869 -0.460746 0.04508 0.676532 0.667638 ENSG00000183117 ENST00000335551 . . . 5.23 2.4 0.29515 . . . . . T 0.00012 0.0000 . . . 0.09310 P 1.0 . . . . . . T 0.38329 -0.9666 3 . . . . 14.2322 0.65901 0.0:0.8289:0.0:0.1711 rs10088378;rs17393969;rs56950656;rs10088378 . . . I 115 . . V - 1 0 CSMD1 3252997 0.969000 0.33509 1.000000 0.80357 0.322000 0.28314 0.210000 0.17455 0.218000 0.20820 -1.890000 0.00535 GTT NOVEL CSMD1-001 KNOWN basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000374500.2 3 5.858778 KEEP 0 4 124 63 2277 CC 1 1 0 - 18 60 607 0 0 36.994178 419 60 15946 605 ENST00000520002.1 0.04119 1 CSMD1 64478 __UNKNOWN__ __UNKNOWN__ 8 3807528 3807528 __UNKNOWN__ Intron SNP C C T rs6984912 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:3807528C>T ENST00000520002.1 - 5 1374 CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000539096.1_Intron|CSMD1_ENST00000537824.1_Intron|CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000602557.1_Intron Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 NA NA integral component of membrane (GO:0016021) breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) ACTACATTTGCCAGGGTCCAC 0.478 NA C||| 1520 0.303514 0.4327 0.1599 5008 , , NA 20269 0.377 NA 0.2068 False NA ,,, NA NA NA 2504 0.2546 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant 8p23.2 2012-04-17 ENSG00000183117 ENSG00000183117 64478 Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits 14026 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 24 608397 NA Standard NM_033225 NM_033225 NA Approved KIAA1890, PPP1R24 uc022aqr.1 Q96PZ7 OTTHUMG00000163605 ENST00000520002.1:c.818+47896G>A chr8.hg19:g.3807528C>T NA Q0H0J5|Q96QU9|Q96RM4 hg19 0.02 6.580214 TTGxCAG COVERED NOVEL CSMD1-001 KNOWN basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000374500.2 1 8.727059 KEEP 0 0 0 29 1014 CC 0.999997 0.999997 0 - 7 60 266 0 0 16.896656 185 60 6808 263 ENST00000520002.1 0.036458 1 CSMD1 64478 __UNKNOWN__ __UNKNOWN__ 8 3807553 3807553 __UNKNOWN__ Intron SNP G G A rs11786061 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:3807553G>A ENST00000520002.1 - 5 1374 CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000539096.1_Intron|CSMD1_ENST00000537824.1_Intron|CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000602557.1_Intron Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 NA NA integral component of membrane (GO:0016021) breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TTTCCTGTGCGTATTTGCTGT 0.438 NA G||| 905 0.180711 0.0303 0.1254 5008 , , NA 20822 0.3482 NA 0.2087 False NA ,,, NA NA NA 2504 0.2219 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant 8p23.2 2012-04-17 ENSG00000183117 ENSG00000183117 64478 Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits 14026 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 24 608397 NA Standard NM_033225 NM_033225 NA Approved KIAA1890, PPP1R24 uc022aqr.1 Q96PZ7 OTTHUMG00000163605 ENST00000520002.1:c.818+47871C>T chr8.hg19:g.3807553G>A NA Q0H0J5|Q96QU9|Q96RM4 hg19 0.02 6.866151 TGCxTAT COVERED NOVEL CSMD1-001 KNOWN basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000374500.2 1 9.630554 KEEP 0 0 0 32 1092 GG 0.999997 0.999997 0 - 10 60 376 0 0 25.554287 172 60 6080 262 ENST00000520002.1 0.054945 1 AGPAT5 55326 __UNKNOWN__ __UNKNOWN__ 8 6577535 6577535 __UNKNOWN__ Intron SNP A A G rs2928625 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:6577535A>G ENST00000285518.6 + 2 531 NM_018361.3 NP_060831.2 Q9NUQ2 PLCE_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 5 NA NA CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|hematopoietic progenitor cell differentiation (GO:0002244)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634) 1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841) AGPAT5/MCPH1(2) endometrium(2)|kidney(2)|large_intestine(4)|lung(3) 11 STAD - Stomach adenocarcinoma(24;0.0578) READ - Rectum adenocarcinoma(644;0.156)|COAD - Colon adenocarcinoma(149;0.191) CCATGATTGGATTGTCCTGCT 0.438 NA G||| 3811 0.760982 0.938 0.7839 5008 , , NA 22117 0.8036 NA 0.6471 False NA ,,, NA NA NA 2504 0.5787 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF375789 CCDS34796.1 8p23.1 2013-02-05 2013-02-05 ENSG00000155189 ENSG00000155189 55326 2.3.1.51 1-acylglycerol-3-phosphate O-acyltransferases 20886 protein-coding gene gene with protein product lysophosphatidic acid acyltransferase, epsilon 614796 1-acylglycerol-3-phosphate O-acyltransferase 5 (lysophosphatidic acid acyltransferase, epsilon) NA Standard NM_018361 NM_018361 NA Approved FLJ11210, LPAAT-e, LPAAT-epsilon uc003wqo.3 Q9NUQ2 OTTHUMG00000163656 ENST00000285518.6:c.220-4856A>G chr8.hg19:g.6577535A>G NA Q8IZ47|Q9BQG4 hg19 CCDS34796.1 0.02 6.924135 TGGxTTG COVERED NOVEL AGPAT5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000374684.1 0 10.831495 KEEP 0 0 0 36 1127 AA 0.999999 0.999999 0 + 10 60 378 0 0 26.218864 154 60 5645 250 ENST00000285518.6 0.060976 1 AGPAT5 55326 __UNKNOWN__ __UNKNOWN__ 8 6582485 6582485 __UNKNOWN__ Intron SNP A A C rs2980686 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:6582485A>C ENST00000285518.6 + 2 601 NM_018361.3 NP_060831.2 Q9NUQ2 PLCE_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 5 NA NA CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|hematopoietic progenitor cell differentiation (GO:0002244)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634) 1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841) AGPAT5/MCPH1(2) endometrium(2)|kidney(2)|large_intestine(4)|lung(3) 11 STAD - Stomach adenocarcinoma(24;0.0578) READ - Rectum adenocarcinoma(644;0.156)|COAD - Colon adenocarcinoma(149;0.191) TGCATGAAACATAGGTTTTTC 0.284 NA t||| 3907 0.780152 0.9418 0.8329 5008 , , NA 16848 0.7907 NA 0.7038 False NA ,,, NA NA NA 2504 0.592 NA NA NA NA 0 C 3445,329 1582,281,24 18 19 19 -3.4 0 8 dbSNP_101 19 5407,2003 1994,1419,292 no intron AGPAT5 NM_018361.3 3576,1700,316 CC,CA,AA 27.031,8.7175,20.8512 6582485 8852,2332 1887 3705 5592 SO:0001627 intron_variant AF375789 CCDS34796.1 8p23.1 2013-02-05 2013-02-05 ENSG00000155189 ENSG00000155189 55326 2.3.1.51 1-acylglycerol-3-phosphate O-acyltransferases 20886 protein-coding gene gene with protein product lysophosphatidic acid acyltransferase, epsilon 614796 1-acylglycerol-3-phosphate O-acyltransferase 5 (lysophosphatidic acid acyltransferase, epsilon) NA Standard NM_018361 NM_018361 NA Approved FLJ11210, LPAAT-e, LPAAT-epsilon uc003wqo.3 Q9NUQ2 OTTHUMG00000163656 ENST00000285518.6:c.289+25A>C chr8.hg19:g.6582485A>C NA Q8IZ47|Q9BQG4 hg19 CCDS34796.1 0.02 2.367894 AACxTAG COVERED NOVEL AGPAT5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000374684.1 0 7.659047 KEEP 0 1 36 38 1223 AA 1 0.999487 0 + 7 60 275 0 0 20.454044 75 60 2759 162 ENST00000285518.6 0.085366 0.999487 AGPAT5 55326 __UNKNOWN__ __UNKNOWN__ 8 6616137 6616137 __UNKNOWN__ 3'UTR SNP T T C rs2980688 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:6616137T>C ENST00000285518.6 + 0 2635 NM_018361.3 NP_060831.2 Q9NUQ2 PLCE_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 5 NA NA CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|hematopoietic progenitor cell differentiation (GO:0002244)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634) 1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841) AGPAT5/MCPH1(2) endometrium(2)|kidney(2)|large_intestine(4)|lung(3) 11 STAD - Stomach adenocarcinoma(24;0.0578) READ - Rectum adenocarcinoma(644;0.156)|COAD - Colon adenocarcinoma(149;0.191) AGACTTAATTTGTCATGACTG 0.423 NA C||| 3961 0.790935 0.9811 0.7997 5008 , , NA 22283 0.7351 NA 0.7654 False NA ,,, NA NA NA 2504 0.6115 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF375789 CCDS34796.1 8p23.1 2013-02-05 2013-02-05 ENSG00000155189 ENSG00000155189 55326 2.3.1.51 1-acylglycerol-3-phosphate O-acyltransferases 20886 protein-coding gene gene with protein product lysophosphatidic acid acyltransferase, epsilon 614796 1-acylglycerol-3-phosphate O-acyltransferase 5 (lysophosphatidic acid acyltransferase, epsilon) NA Standard NM_018361 NM_018361 NA Approved FLJ11210, LPAAT-e, LPAAT-epsilon uc003wqo.3 Q9NUQ2 OTTHUMG00000163656 ENST00000285518.6:c.*1228T>C chr8.hg19:g.6616137T>C NA Q8IZ47|Q9BQG4 hg19 CCDS34796.1 0.02 4.061877 ATTxGTC COVERED NOVEL AGPAT5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000374684.1 1 4.513591 KEEP 0 0 0 15 472 TT 0.99649 0.99649 0 + 7 60 246 0 0 16.179976 120 60 4329 159 ENST00000285518.6 0.055118 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 7000850 7000850 __UNKNOWN__ IGR SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:7000850C>T NA NA AF228730.1 (27280 upstream) : AF228730.2 (55111 downstream) NA NA NA gagcgggtcacgaggtcagga 0.522 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr8.hg19:g.7000850C>T NA hg19 0.02 -0.280577 TCAxGAG COVERED NOVEL 0 0 2.407589 KEEP 3 0 0 8 267 CC 0.99257 0.734176 0 3 24 96 0 0 6.899601 25 50 793 47 0.107143 0.739671 SPAG11A 653423 __UNKNOWN__ __UNKNOWN__ 8 7720964 7720964 __UNKNOWN__ Intron SNP T T G rs139896665 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:7720964T>G ENST00000326558.5 + 4 315 SPAG11A_ENST00000351436.4_Intron NM_001081552.2 NP_001075021.2 Q6PDA7 SG11A_HUMAN sperm associated antigen 11A NA NA extracellular region (GO:0005576) central_nervous_system(1)|lung(2) 3 COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236) AAGTTCAGACTGAATCAGCAG 0.507 NA NA NA NA NA NA NA NA NA NA NA 0 19 24 22 NA NA 8 NA 7720964 667 1534 2201 SO:0001627 intron_variant CCDS43700.1 8p23.1 2009-09-12 2007-03-15 ENSG00000178287 ENSG00000178287 653423 33342 protein-coding gene gene with protein product epididymal protein 2A NA Standard NM_001081552 NM_001081552 NA Approved HE2, EDDM2A Q6PDA7 OTTHUMG00000162440 ENST00000326558.5:c.293-59T>G chr8.hg19:g.7720964T>G NA A6NIY0|E9PAK7 hg19 CCDS43700.1 0.02 3.467124 GACxGAA UNCOVERED NOVEL SPAG11A-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000368921.2 2 12.571733 KEEP 217 1 35 54 1707 TT 0 0 0 + 6 27 193 0 0 11.457585 132 40 4905 457 ENST00000326558.5 0.043478 1 SPAG11A 653423 __UNKNOWN__ __UNKNOWN__ 8 7721244 7721244 __UNKNOWN__ 3'UTR SNP C C T rs77003603 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:7721244C>T ENST00000326558.5 + 0 537 SPAG11A_ENST00000351436.4_3'UTR NM_001081552.2 NP_001075021.2 Q6PDA7 SG11A_HUMAN sperm associated antigen 11A NA NA extracellular region (GO:0005576) central_nervous_system(1)|lung(2) 3 COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236) GACTGGCTCCCCAGGGATCCA 0.577 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS43700.1 8p23.1 2009-09-12 2007-03-15 ENSG00000178287 ENSG00000178287 653423 33342 protein-coding gene gene with protein product epididymal protein 2A NA Standard NM_001081552 NM_001081552 NA Approved HE2, EDDM2A Q6PDA7 OTTHUMG00000162440 ENST00000326558.5:c.*187C>T chr8.hg19:g.7721244C>T NA A6NIY0|E9PAK7 hg19 CCDS43700.1 0.02 23.715295 TCCxCAG COVERED NOVEL SPAG11A-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000368921.2 1 14.51729 KEEP 44 2 62 70 2518 CC 1 1 0 + 17 49 609 0 0 35.935236 558 60 20635 850 ENST00000326558.5 0.029565 1 ERI1 90459 __UNKNOWN__ __UNKNOWN__ 8 8889900 8889900 __UNKNOWN__ 3'UTR SNP T T A rs117237918 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:8889900T>A ENST00000523898.1 + 0 4085 ERI1_ENST00000519292.1_Intron|ERI1_ENST00000520332.1_Intron|ERI1_ENST00000250263.7_3'UTR Q8IV48 ERI1_HUMAN exoribonuclease 1 NA NA gene silencing by RNA (GO:0031047)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|rRNA 3'-end processing (GO:0031125) cytoplasm (GO:0005737)|histone pre-mRNA 3'end processing complex (GO:0071204)|nucleolus (GO:0005730)|nucleus (GO:0005634) 3'-5' exonuclease activity (GO:0008408)|histone pre-mRNA stem-loop binding (GO:0071207)|metal ion binding (GO:0046872)|ribosome binding (GO:0043022)|rRNA binding (GO:0019843) NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1) 11 TTTTTTCAAATCCGCAATCTT 0.274 NA T||| 131 0.0261581 0.0 0.0 5008 , , NA 16977 0.129 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC035279 CCDS5972.1 8p23.1 2008-12-16 2008-12-16 2008-12-16 ENSG00000104626 ENSG00000104626 90459 Enhanced RNAi three prime mRNA exonucleases 23994 protein-coding gene gene with protein product exoribonuclease 1, enhanced RNAi three prime mRNA exonuclease homolog 1 (C.elegans) 608739 three prime histone mRNA exonuclease 1 THEX1 NA 14536070 Standard NM_153332 NM_153332 NA Approved 3'HEXO uc003wsk.2 Q8IV48 OTTHUMG00000129328 ENST00000523898.1:c.*2356T>A chr8.hg19:g.8889900T>A NA A8K4U7|Q9NSX3 hg19 CCDS5972.1 0.02 8.713213 AAAxCCG COVERED NOVEL ERI1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251471.2 0 17.150353 KEEP 0 0 0 57 1806 TT 1 1 0 + 12 60 406 0 0 26.311541 208 60 7679 343 ENST00000523898.1 0.054545 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 9669335 9669335 __UNKNOWN__ IGR SNP T T C rs28634186 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:9669335T>C NA NA TNKS (29479 upstream) : snoU13 (55081 downstream) NA NA NA cagtaactgctacgccagaca 0.393 NA t||| 2913 0.581669 0.5537 0.5389 5008 , , NA 21096 0.4861 NA 0.66 False NA ,,, NA NA NA 2504 0.6677 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr8.hg19:g.9669335T>C NA hg19 0.02 2.018927 TGCxACG COVERED NOVEL 0 1 5.41682 KEEP 0 0 0 18 577 TT 0.99986 0.999815 0 4 60 150 0 0 9.63589 95 60 3481 156 0.040404 0.999956 MSRA 4482 __UNKNOWN__ __UNKNOWN__ 8 10211175 10211175 __UNKNOWN__ Intron SNP C C T rs6601444 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:10211175C>T ENST00000317173.4 + 5 792 MSRA_ENST00000382490.5_Intron|MSRA_ENST00000441698.2_Intron|MSRA_ENST00000517594.1_Intron|MSRA_ENST00000528246.1_Intron NM_012331.3 NP_036463.1 Q9UJ68 MSRA_HUMAN methionine sulfoxide reductase A NA NA cellular protein modification process (GO:0006464)|methionine metabolic process (GO:0006555)|protein repair (GO:0030091)|response to oxidative stress (GO:0006979) extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634) peptide-methionine (S)-S-oxide reductase activity (GO:0008113) central_nervous_system(1)|endometrium(2)|kidney(1)|lung(4) 8 Myeloproliferative disorder(644;0.178) L-Methionine(DB00134) GGGCTGCAGACGGAGGGAAGA 0.522 NA T||| 2171 0.433506 0.6331 0.3674 5008 , , NA 20124 0.4613 NA 0.1998 False NA ,,, NA NA NA 2504 0.4223 NA NA NA NSCLC(88;1378 1469 30580 49103 52286) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC054033 CCDS5975.1, CCDS47798.1, CCDS47799.1, CCDS56522.1 8p23.1 2009-07-10 ENSG00000175806 ENSG00000175806 4482 1.8.4.11 7377 protein-coding gene gene with protein product 601250 NA 10452521 Standard NM_012331 NM_012331 NA Approved uc003wsx.3 Q9UJ68 OTTHUMG00000090517 ENST00000317173.4:c.543+33676C>T chr8.hg19:g.10211175C>T NA E9PAS8|Q52TC4|Q549N4|Q66MI7 hg19 CCDS5975.1 0.02 21.491657 AGAxGGA COVERED NOVEL MSRA-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207005.1 3 15.950099 KEEP 0 0 0 53 1784 CC 1 1 0 + 14 60 511 0 0 29.801037 509 60 17840 686 ENST00000317173.4 0.026769 1 C8orf74 203076 __UNKNOWN__ __UNKNOWN__ 8 10549035 10549035 __UNKNOWN__ Intron SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:10549035G>A ENST00000304519.5 + 3 270 RP1L1_ENST00000329335.3_Intron NM_001040032.1 NP_001035121 Q6P047 CH074_HUMAN chromosome 8 open reading frame 74 NA NA central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1) 13 COAD - Colon adenocarcinoma(149;0.0811) GGCAAGTTCAGAGAAGGTGTG 0.582 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC038534 CCDS47800.1 8p23.1 2012-04-17 ENSG00000171060 ENSG00000171060 203076 32296 protein-coding gene gene with protein product NA Standard NM_001040032 NM_001040032 NA Approved uc003wtd.1 Q6P047 OTTHUMG00000163807 ENST00000304519.5:c.242-6074G>A chr8.hg19:g.10549035G>A NA A2RUD6 hg19 CCDS47800.1 0.02 9.041701 TCAxAGA COVERED NOVEL C8orf74-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000375675.1 0 4.213695 KEEP 0 0 0 14 499 GG 0.995343 0.995343 0 + 11 60 406 0 0 26.71289 217 60 8229 276 ENST00000304519.5 0.048246 1 MTMR9 66036 __UNKNOWN__ __UNKNOWN__ 8 11180608 11180608 __UNKNOWN__ 3'UTR SNP C C G rs1036383 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:11180608C>G ENST00000221086.3 + 0 2434 AF131216.6_ENST00000498997.2_RNA NM_015458.3 NP_056273.2 Q96QG7 MTMR9_HUMAN myotubularin related protein 9 NA NA cytoplasm (GO:0005737) enzyme regulator activity (GO:0030234)|phosphatase activity (GO:0016791) cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2) 16 STAD - Stomach adenocarcinoma(15;0.215) COAD - Colon adenocarcinoma(149;0.0678) AAAGCTTTTTCTCTGTGTCCA 0.388 NA C||| 631 0.125998 0.1399 0.2435 5008 , , NA 20096 0.1617 NA 0.0557 False NA ,,, NA NA NA 2504 0.0593 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ297823 CCDS5979.1 8p23-p22 2011-06-09 2002-09-05 2002-09-06 ENSG00000104643 ENSG00000104643 66036 Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins 14596 protein-coding gene gene with protein product 606260 myotubularin related protein 8 C8orf9, MTMR8 NA 11472061, 11896452, 12890864 Standard NM_015458 NM_015458 NA Approved DKFZp434K171, LIP-STYX uc003wtm.3 Q96QG7 OTTHUMG00000090647 ENST00000221086.3:c.*311C>G chr8.hg19:g.11180608C>G NA B7Z291|Q52LU3|Q8WW11|Q96QG6|Q9NX50 hg19 CCDS5979.1 0.02 4.655288 TTTxTCT COVERED NOVEL MTMR9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207307.2 2 6.922506 KEEP 0 0 0 23 818 CC 0.999892 0.999892 0 + 9 60 347 0 0 24.518283 130 60 5039 202 ENST00000221086.3 0.064748 1 MTMR9 66036 __UNKNOWN__ __UNKNOWN__ 8 11180701 11180701 __UNKNOWN__ 3'UTR SNP C C T rs138895517 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:11180701C>T ENST00000221086.3 + 0 2527 AF131216.6_ENST00000498997.2_RNA NM_015458.3 NP_056273.2 Q96QG7 MTMR9_HUMAN myotubularin related protein 9 NA NA cytoplasm (GO:0005737) enzyme regulator activity (GO:0030234)|phosphatase activity (GO:0016791) cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2) 16 STAD - Stomach adenocarcinoma(15;0.215) COAD - Colon adenocarcinoma(149;0.0678) AAGGGTCAGACTTTTAAACAC 0.388 NA C||| 20 0.00399361 0.0 0.0 5008 , , NA 18069 0.0188 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ297823 CCDS5979.1 8p23-p22 2011-06-09 2002-09-05 2002-09-06 ENSG00000104643 ENSG00000104643 66036 Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins 14596 protein-coding gene gene with protein product 606260 myotubularin related protein 8 C8orf9, MTMR8 NA 11472061, 11896452, 12890864 Standard NM_015458 NM_015458 NA Approved DKFZp434K171, LIP-STYX uc003wtm.3 Q96QG7 OTTHUMG00000090647 ENST00000221086.3:c.*404C>T chr8.hg19:g.11180701C>T NA B7Z291|Q52LU3|Q8WW11|Q96QG6|Q9NX50 hg19 CCDS5979.1 0.02 4.514106 AGAxTTT COVERED NOVEL MTMR9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207307.2 0 7.222754 KEEP 0 0 0 24 828 CC 0.999909 0.999908 0 + 6 60 222 0 0 14.699111 115 60 4260 154 ENST00000221086.3 0.049587 0.999999 MTMR9 66036 __UNKNOWN__ __UNKNOWN__ 8 11184862 11184862 __UNKNOWN__ 3'UTR SNP G G A rs61762306 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:11184862G>A ENST00000221086.3 + 0 6688 NM_015458.3 NP_056273.2 Q96QG7 MTMR9_HUMAN myotubularin related protein 9 NA NA cytoplasm (GO:0005737) enzyme regulator activity (GO:0030234)|phosphatase activity (GO:0016791) cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2) 16 STAD - Stomach adenocarcinoma(15;0.215) COAD - Colon adenocarcinoma(149;0.0678) AGAGTTTACTGACTTCTAGAG 0.378 NA G||| 528 0.105431 0.0719 0.2334 5008 , , NA 18048 0.1587 NA 0.0527 False NA ,,, NA NA NA 2504 0.0593 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ297823 CCDS5979.1 8p23-p22 2011-06-09 2002-09-05 2002-09-06 ENSG00000104643 ENSG00000104643 66036 Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins 14596 protein-coding gene gene with protein product 606260 myotubularin related protein 8 C8orf9, MTMR8 NA 11472061, 11896452, 12890864 Standard NM_015458 NM_015458 NA Approved DKFZp434K171, LIP-STYX uc003wtm.3 Q96QG7 OTTHUMG00000090647 ENST00000221086.3:c.*4565G>A chr8.hg19:g.11184862G>A NA B7Z291|Q52LU3|Q8WW11|Q96QG6|Q9NX50 hg19 CCDS5979.1 0.02 11.357844 ACTxACT COVERED NOVEL MTMR9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207307.2 0 10.233517 KEEP 0 0 0 34 1216 GG 0.999998 0.999998 0 + 10 60 371 0 0 23.488277 249 60 9445 336 ENST00000221086.3 0.03861 1 SLC35G5 83650 __UNKNOWN__ __UNKNOWN__ 8 11188703 11188703 __UNKNOWN__ Missense_Mutation SNP C C T rs4841520 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:11188703C>T ENST00000382435.4 + 1 307 c.88C>T c.(88-90)Cgc>Tgc p.R30C NM_001282300.1|NM_054028.1 NP_001269229.1|NP_473369.1 Q96KT7 S35G5_HUMAN solute carrier family 35, member G5 30 NA integral component of membrane (GO:0016021) NA CTGGCACCAGCGCTGCCAGCC 0.662 NA C||| 557 0.111222 0.0877 0.232 5008 , , NA 16315 0.1647 NA 0.0527 False NA ,,, NA NA NA 2504 0.0624 NA NA NA NA 0 C CYS/ARG 249,4157 129.8+/-166.5 7,235,1961 56 60 59 88 0.3 0.1 8 dbSNP_111 59 262,8334 89.4+/-151.6 3,256,4039 no missense SLC35G5 NM_054028.1 180 10,491,6000 TT,TC,CC 3.0479,5.6514,3.9302 benign 30/339 11188703 511,12491 2203 4298 6501 SO:0001583 missense AJ291677 CCDS5980.1 8p23.1 2013-05-22 2011-08-03 2011-08-03 ENSG00000177710 ENSG00000177710 83650 Solute carriers 15546 protein-coding gene gene with protein product 615199 acyl-malonyl condensing enzyme 1-like 2 AMAC, AMAC1L2 NA Standard NM_054028 NM_054028 NA Approved uc003wtp.1 Q96KT7 OTTHUMG00000090653 ENST00000382435.4:c.88C>T chr8.hg19:g.11188703C>T ENSP00000371872:p.Arg30Cys NA A2RRL6 hg19 CCDS5980.1 0.02 1.977197 CAGxGCT COVERED 243 0.11126373626373626 47 0.09552845528455285 63 0.17403314917127072 91 0.1590909090909091 42 0.055408970976253295 C 5.869 0.344573 0.11126 0.056514 0.030479 ENSG00000177710 ENST00000382435 T 0.30981 1.51 0.34 0.34 0.15985 . 0.206174 0.24657 N 0.036675 T 0.00039 0.0001 L 0.27053 0.805 0.38416 P 0.053956000000000004 B 0.09022 0.002 B 0.06405 0.002 T 0.13926 -1.0491 8 0.56958 D 0.05 -3.2098 . . . rs4841520 30 Q96KT7 S35G5_HUMAN C 30 ENSP00000371872:R30C ENSP00000371872:R30C R + 1 0 SLC35G5 11226113 0.610000 0.26983 0.085000 0.20634 0.037000 0.13140 0.593000 0.23999 0.426000 0.26116 0.089000 0.15464 CGC NOVEL SLC35G5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207313.2 0 4.513469 KEEP 1 0 0 15 508 CC 0.99649 0.99581 0 + 5 45 179 0 0 12.138532 76 60 2686 121 ENST00000382435.4 0.061728 0.999317 FAM167A 83648 __UNKNOWN__ __UNKNOWN__ 8 11296189 11296189 __UNKNOWN__ Intron SNP T T C rs12674532 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:11296189T>C ENST00000528897.1 - 2 1001 FAM167A_ENST00000534308.1_Intron|FAM167A_ENST00000284486.4_Intron|FAM167A_ENST00000531564.1_Intron Q96KS9 F167A_HUMAN family with sequence similarity 167, member A NA NA breast(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1) 9 ggttcttttgtttatacatTC 0.403 NA T||| 328 0.0654952 0.0023 0.0418 5008 , , NA 18791 0.2599 NA 0.0268 False NA ,,, NA NA NA 2504 0.0072 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS5981.1 8p23-p22 2010-08-27 2008-06-11 2008-06-11 ENSG00000154319 ENSG00000154319 83648 15549 protein-coding gene gene with protein product 610085 chromosome 8 open reading frame 13 C8orf13 NA Standard NM_053279 NA Approved uc003wtw.2 Q96KS9 OTTHUMG00000129361 ENST00000528897.1:c.381+5350A>G chr8.hg19:g.11296189T>C NA A8K3T9|Q3SXY1|Q3SXY3|Q8N3M3|Q9NSR0 hg19 CCDS5981.1 0.02 11.197087 TTGxTTA COVERED NOVEL FAM167A-003 PUTATIVE alternative_5_UTR|basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000383901.1 2 9.629809 KEEP 0 0 0 32 1041 TT 0.999997 0.999997 0 - 9 60 337 0 0 20.912191 258 60 9278 356 ENST00000528897.1 0.033708 1 GATA4 2626 __UNKNOWN__ __UNKNOWN__ 8 11616338 11616338 __UNKNOWN__ 3'UTR SNP A A C rs867858 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:11616338A>C ENST00000335135.4 + 0 2241 GATA4_ENST00000528712.1_3'UTR NM_002052.3 NP_002043.2 P43694 GATA4_HUMAN GATA binding protein 4 NA NA atrial septum morphogenesis (GO:0060413)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac ventricle morphogenesis (GO:0003208)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to glucose stimulus (GO:0071333)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|endocardial cushion development (GO:0003197)|endoderm development (GO:0007492)|endoderm formation (GO:0001706)|epithelial cell fate commitment (GO:0072148)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|intestinal epithelial cell differentiation (GO:0060575)|lung lobe formation (GO:0060464)|male gonad development (GO:0008584)|negative regulation of autophagy (GO:0010507)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to mechanical stimulus (GO:0009612)|seminiferous tubule development (GO:0072520)|Sertoli cell differentiation (GO:0060008)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281) nucleoplasm (GO:0005654)|nucleus (GO:0005634) activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270) central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10) 13 all_epithelial(15;0.0839) STAD - Stomach adenocarcinoma(15;0.00225) COAD - Colon adenocarcinoma(149;0.199) ATCTGAGAACAAGCGGAGGGC 0.612 NA A||| 1810 0.361422 0.2383 0.3026 5008 , , NA 14694 0.5804 NA 0.3151 False NA ,,, NA NA NA 2504 0.3916 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK097060 CCDS5983.1 8p23.1-p22 2013-01-25 2001-11-28 ENSG00000136574 ENSG00000136574 2626 GATA zinc finger domain containing 4173 protein-coding gene gene with protein product 600576 GATA-binding protein 4 NA 7665171 Standard NM_002052 NM_002052 NA Approved uc003wuc.2 P43694 OTTHUMG00000090800 ENST00000335135.4:c.*354A>C chr8.hg19:g.11616338A>C NA B7ZKX0|B7ZKZ4|Q3MJ45|Q5IFM8 hg19 CCDS5983.1 0.02 15.47976 AACxAGC COVERED NOVEL GATA4-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000207587.2 1 31.725272 KEEP 0 1 39 119 3663 AA 1 1 0 + 15 60 595 0 0 40.541337 297 60 10654 546 ENST00000335135.4 0.048077 1 GATA4 2626 __UNKNOWN__ __UNKNOWN__ 8 11617240 11617240 __UNKNOWN__ 3'UTR SNP A A T rs12458 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:11617240A>T ENST00000335135.4 + 0 3143 GATA4_ENST00000528712.1_3'UTR NM_002052.3 NP_002043.2 P43694 GATA4_HUMAN GATA binding protein 4 NA NA atrial septum morphogenesis (GO:0060413)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac ventricle morphogenesis (GO:0003208)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to glucose stimulus (GO:0071333)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|endocardial cushion development (GO:0003197)|endoderm development (GO:0007492)|endoderm formation (GO:0001706)|epithelial cell fate commitment (GO:0072148)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|intestinal epithelial cell differentiation (GO:0060575)|lung lobe formation (GO:0060464)|male gonad development (GO:0008584)|negative regulation of autophagy (GO:0010507)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to mechanical stimulus (GO:0009612)|seminiferous tubule development (GO:0072520)|Sertoli cell differentiation (GO:0060008)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281) nucleoplasm (GO:0005654)|nucleus (GO:0005634) activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270) central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10) 13 all_epithelial(15;0.0839) STAD - Stomach adenocarcinoma(15;0.00225) COAD - Colon adenocarcinoma(149;0.199) CTGGAGCTCAAGGAGACTCCT 0.602 NA T||| 2003 0.39996 0.3933 0.3199 5008 , , NA 16591 0.5546 NA 0.3211 False NA ,,, NA NA NA 2504 0.3875 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK097060 CCDS5983.1 8p23.1-p22 2013-01-25 2001-11-28 ENSG00000136574 ENSG00000136574 2626 GATA zinc finger domain containing 4173 protein-coding gene gene with protein product 600576 GATA-binding protein 4 NA 7665171 Standard NM_002052 NM_002052 NA Approved uc003wuc.2 P43694 OTTHUMG00000090800 ENST00000335135.4:c.*1256A>T chr8.hg19:g.11617240A>T NA B7ZKX0|B7ZKZ4|Q3MJ45|Q5IFM8 hg19 CCDS5983.1 0.02 12.791439 TCAxGGA COVERED NOVEL GATA4-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000207587.2 3 22.135233 KEEP 0 2 61 95 3016 AA 1 1 0 + 14 60 494 0 0 31.291962 298 60 10965 500 ENST00000335135.4 0.044872 1 C8orf49 606553 __UNKNOWN__ __UNKNOWN__ 8 11619986 11619986 __UNKNOWN__ 3'UTR SNP C C T rs7015453 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:11619986C>T ENST00000525043.2 + 0 1091 Q96NF6 CH049_HUMAN chromosome 8 open reading frame 49 NA NA integral component of membrane (GO:0016021) NA GACTGTCTTCCGTCCTACCGC 0.502 NA C||| 1701 0.339657 0.3525 0.2161 5008 , , NA 18121 0.5546 NA 0.174 False NA ,,, NA NA NA 2504 0.3589 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK055534 8p23.1 2014-04-30 ENSG00000255394 ENSG00000255394 606553 32200 protein-coding gene gene with protein product GATA4 downstream membrane protein NA Standard NR_103552 NA Approved FLJ30972, G4DM uc003wud.1 Q96NF6 OTTHUMG00000165224 ENST00000525043.2:c.*371C>T chr8.hg19:g.11619986C>T NA hg19 0.02 2.080236 TTCxGTC COVERED NOVEL C8orf49-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000383661.1 3 10.828071 KEEP 0 0 0 36 1183 CC 0.999999 0.98416 0 + 4 60 144 0 0 9.993533 54 60 1781 116 ENST00000525043.2 0.068966 0.984161 NEIL2 252969 __UNKNOWN__ __UNKNOWN__ 8 11629129 11629129 __UNKNOWN__ Intron SNP C C G rs804268 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:11629129C>G ENST00000284503.6 + 2 737 NEIL2_ENST00000528323.1_Intron|NEIL2_ENST00000436750.3_Intron|NEIL2_ENST00000455213.2_Intron|NEIL2_ENST00000403422.3_Intron NM_145043.2 NP_659480.1 Q969S2 NEIL2_HUMAN nei endonuclease VIII-like 2 (E. coli) NA NA base-excision repair (GO:0006284)|nucleotide-excision repair (GO:0006289) cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle microtubule (GO:0005876) damaged DNA binding (GO:0003684)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|zinc ion binding (GO:0008270) endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1) 10 all_epithelial(15;0.103) STAD - Stomach adenocarcinoma(15;0.00225) COAD - Colon adenocarcinoma(149;0.166) TTGGCTCTGTCGCCCATCCTG 0.597 NA Base excision repair (BER), DNA glycosylases C||| 1868 0.373003 0.0877 0.415 5008 , , NA 17512 0.5804 NA 0.3748 False NA ,,, NA NA NA 2504 0.5133 NA NA NA NA 0 C ,,, 606,3800 263.8+/-265.7 39,528,1636 53 52 52 ,,, 0.4 0 8 dbSNP_86 52 3477,5123 507.9+/-376.9 745,1987,1568 no intron,intron,intron,intron NEIL2 NM_001135746.1,NM_001135747.1,NM_001135748.1,NM_145043.2 ,,, 784,2515,3204 GG,GC,CC 40.4302,13.754,31.3932 ,,, ,,, 11629129 4083,8923 2203 4300 6503 SO:0001627 intron_variant AK056206 CCDS5984.1, CCDS47802.1, CCDS47803.1 8p23.1 2010-04-27 2010-04-27 ENSG00000154328 ENSG00000154328 252969 18956 protein-coding gene gene with protein product 608933 nei like 2 (E. coli) NA 12097317, 17686777 Standard NM_145043 NM_145043 NA Approved NEH2, FLJ31644, MGC2832, MGC4505 uc003wue.2 Q969S2 OTTHUMG00000090753 ENST00000284503.6:c.138+35C>G chr8.hg19:g.11629129C>G NA B4DFR7|Q7Z3Q7|Q8N842|Q8NG52 hg19 CCDS5984.1 0.02 6.478112 TGTxGCC COVERED NOVEL NEIL2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207583.3 1 8.563767 KEEP 0 1 39 42 1411 CC 1 1 0 + 7 60 245 0 0 15.408291 151 60 5197 249 ENST00000284503.6 0.044304 1 NEIL2 252969 __UNKNOWN__ __UNKNOWN__ 8 11637276 11637276 __UNKNOWN__ Missense_Mutation SNP G G A rs8191613 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:11637276G>A ENST00000284503.6 + 3 907 c.308G>A c.(307-309)cGg>cAg p.R103Q NEIL2_ENST00000528323.1_Intron|NEIL2_ENST00000436750.3_Missense_Mutation_p.R103Q|NEIL2_ENST00000455213.2_Missense_Mutation_p.R103Q|NEIL2_ENST00000403422.3_Missense_Mutation_p.R42Q NM_145043.2 NP_659480.1 Q969S2 NEIL2_HUMAN nei endonuclease VIII-like 2 (E. coli) 103 NA R -> Q (in dbSNP:rs8191613). {ECO:0000269|PubMed:12200441, ECO:0000269|Ref.4}.|R -> W (in dbSNP:rs8191612). {ECO:0000269|Ref.4}. base-excision repair (GO:0006284)|nucleotide-excision repair (GO:0006289) cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle microtubule (GO:0005876) damaged DNA binding (GO:0003684)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|zinc ion binding (GO:0008270) endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1) 10 all_epithelial(15;0.103) STAD - Stomach adenocarcinoma(15;0.00225) COAD - Colon adenocarcinoma(149;0.166) GGATCCTCACGGTCTGCAGAG 0.602 NA Base excision repair (BER), DNA glycosylases g||| 370 0.0738818 0.0567 0.0274 5008 , , NA 15956 0.2391 NA 0.0258 False NA ,,, NA NA NA 2504 0.0092 NA NA NA NA 0 A GLN/ARG,GLN/ARG,,GLN/ARG 213,4193 130.6+/-167.2 2,209,1992 71 74 73 308,125,,308 -10.5 0 8 dbSNP_117 73 108,8492 57.5+/-118.9 0,108,4192 yes missense,missense,intron,missense NEIL2 NM_001135746.1,NM_001135747.1,NM_001135748.1,NM_145043.2 43,43,,43 2,317,6184 AA,AG,GG 1.2558,4.8343,2.4681 benign,benign,,benign 103/333,42/272,,103/333 11637276 321,12685 2203 4300 6503 SO:0001583 missense AK056206 CCDS5984.1, CCDS47802.1, CCDS47803.1 8p23.1 2010-04-27 2010-04-27 ENSG00000154328 ENSG00000154328 252969 18956 protein-coding gene gene with protein product 608933 nei like 2 (E. coli) NA 12097317, 17686777 Standard NM_145043 NM_145043 NA Approved NEH2, FLJ31644, MGC2832, MGC4505 uc003wue.2 Q969S2 OTTHUMG00000090753 ENST00000284503.6:c.308G>A chr8.hg19:g.11637276G>A ENSP00000284503:p.Arg103Gln NA B4DFR7|Q7Z3Q7|Q8N842|Q8NG52 hg19 CCDS5984.1 0.02 15.409902 CACxGTC COVERED 194 0.08882783882783883 30 0.06097560975609756 7 0.019337016574585635 137 0.2395104895104895 20 0.026385224274406333 g 11.17 1.559660 0.27827 0.048343 0.012558 ENSG00000154328 ENST00000530433;ENST00000455213;ENST00000403422;ENST00000436750;ENST00000284503;ENST00000382309 T;T;T;T 0.04862 3.58;3.54;3.58;3.58 5.28 -10.5 0.00291 DNA glycosylase/AP lyase, catalytic domain (2); 1.732770 0.03297 N 0.188457 T 0.00012 0.0000 N 0.00538 -1.39 0.80722 P 0.0 B 0.02656 0.0 B 0.04013 0.001 T 0.48514 -0.9029 9 0.30854 T 0.27 -21.2266 5.5926 0.17309 0.26:0.1775:0.493:0.0695 rs8191613;rs52803292;rs8191613 103 Q969S2 NEIL2_HUMAN Q 103;103;42;103;103;88 ENSP00000397538:R103Q;ENSP00000384070:R42Q;ENSP00000394023:R103Q;ENSP00000284503:R103Q ENSP00000284503:R103Q R + 2 0 NEIL2 11674685 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -3.878000 0.00344 -2.078000 0.00872 -2.711000 0.00134 CGG NOVEL NEIL2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207583.3 3 21.773145 KEEP 0 3 93 105 3627 GG 1 1 0 + 10 60 368 0 0 21.817362 344 60 11971 572 ENST00000284503.6 0.028249 1 FDFT1 2222 __UNKNOWN__ __UNKNOWN__ 8 11696352 11696352 __UNKNOWN__ 3'UTR SNP T T C rs3258 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:11696352T>C ENST00000525900.1 + 0 1534 FDFT1_ENST00000528643.1_3'UTR|FDFT1_ENST00000528812.1_3'UTR|FDFT1_ENST00000220584.4_3'UTR|FDFT1_ENST00000538689.1_3'UTR|FDFT1_ENST00000446331.2_3'UTR P37268 FDFT_HUMAN farnesyl-diphosphate farnesyltransferase 1 NA NA cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) farnesyl-diphosphate farnesyltransferase activity (GO:0004310)|oxidoreductase activity (GO:0016491)|squalene synthase activity (GO:0051996) breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2) 12 all_epithelial(15;0.234) STAD - Stomach adenocarcinoma(15;0.00225) COAD - Colon adenocarcinoma(149;0.18) GTGCTGCTTGTGGCTCATGGC 0.468 NA T||| 2092 0.417732 0.382 0.4236 5008 , , NA 20378 0.505 NA 0.334 False NA ,,, NA NA NA 2504 0.4581 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X69141 CCDS5985.1, CCDS75696.1, CCDS75697.1 8p23.1-p22 2005-03-07 ENSG00000079459 ENSG00000079459 2222 2.5.1.21 3629 protein-coding gene gene with protein product squalene synthase 184420 NA Standard NM_001287742 NA Approved uc003wui.3 P37268 OTTHUMG00000090801 ENST00000525900.1:c.*234T>C chr8.hg19:g.11696352T>C NA B3KQ95|B4DJE5|B4DT56|B7Z1J3|Q96GT0 hg19 0.02 4.121619 TTGxGGC COVERED NOVEL FDFT1-006 PUTATIVE alternative_5_UTR|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000383672.1 0 6.018922 KEEP 0 0 0 20 657 TT 0.999863 0.999855 0 + 5 60 172 0 0 10.77931 104 60 3705 153 ENST00000525900.1 0.045872 0.999992 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 11778192 11778192 __UNKNOWN__ IGR SNP C C T rs35776335 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:11778192C>T NA NA CTSB (52454 upstream) : DEFB136 (53253 downstream) NA NA NA CAGTGACGACCGGCTGCAGTT 0.552 NA C||| 1141 0.227835 0.0121 0.2262 5008 , , NA 20242 0.6052 NA 0.1909 False NA ,,, NA NA NA 2504 0.1697 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr8.hg19:g.11778192C>T NA hg19 0.02 -0.324597 GACxGGC COVERED NOVEL 0 0 2.708326 KEEP 0 0 0 9 294 CC 0.99254 0.829482 0 3 60 119 0 0 8.810114 34 60 1215 52 0.081081 0.835716 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 12396856 12396856 __UNKNOWN__ IGR SNP C C T rs2933934 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:12396856C>T NA NA AC130352.1 (12506 upstream) : AC068587.2 (38657 downstream) NA NA NA gattttcatgcgtcagcctcc 0.493 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr8.hg19:g.12396856C>T NA hg19 0.02 -0.166694 ATGxGTC UNCOVERED NOVEL 0 4 2.407777 KEEP 3 0 0 8 278 CC 0 0 0 4 60 155 0 0 13.161948 15 60 571 31 0.210526 0.353947 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 12410207 12410207 __UNKNOWN__ IGR SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:12410207G>A NA NA AC130352.1 (25857 upstream) : AC068587.2 (25306 downstream) NA NA NA aggaggctgaggcaggagaat 0.517 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr8.hg19:g.12410207G>A NA hg19 0.02 -0.096083 TGAxGCA UNCOVERED NOVEL 0 3 2.708531 KEEP 0 0 0 9 305 GG 0.99254 0.119538 0 5 60 160 0 0 15.059873 6 60 230 21 0.454545 0.120436 KIAA1456 57604 __UNKNOWN__ __UNKNOWN__ 8 12880141 12880141 __UNKNOWN__ Intron SNP C C G rs62486882 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:12880141C>G ENST00000447063.2 + 6 593 KIAA1456_ENST00000524591.2_3'UTR Q9P272 K1456_HUMAN KIAA1456 NA NA methyltransferase activity (GO:0008168) endometrium(1)|kidney(1)|large_intestine(1)|lung(4) 7 AAATTATAAGCAAACTTGCTT 0.383 NA C||| 964 0.192492 0.233 0.1585 5008 , , NA 19122 0.1885 NA 0.1183 False NA ,,, NA NA NA 2504 0.2423 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC035082 CCDS47808.1 8p22 2013-10-04 2011-02-23 2011-02-23 ENSG00000250305 ENSG00000250305 57604 26725 protein-coding gene gene with protein product 615666 chromosome 8 open reading frame 79 C8orf79 NA 23381944 Standard NM_001099677 NM_020844 NA Approved FLJ36980 uc010lsq.3 Q8N9K7 OTTHUMG00000165477 ENST00000447063.2:c.265-8482C>G chr8.hg19:g.12880141C>G NA Q96AW6 hg19 0.02 7.041548 AAGxAAA COVERED NOVEL KIAA1456-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000383263.2 1 5.718327 KEEP 0 0 0 19 663 CC 0.99986 0.99986 0 + 6 60 232 0 0 14.920905 156 60 5915 211 ENST00000447063.2 0.037037 1 DLC1 10395 __UNKNOWN__ __UNKNOWN__ 8 12990422 12990422 __UNKNOWN__ Intron SNP A A G rs111318100|rs10107321 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:12990422A>G ENST00000276297.4 - 6 1758 DLC1_ENST00000358919.2_Intron|DLC1_ENST00000512044.2_Intron NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN DLC1 Rho GTPase activating protein NA NA actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634) lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169) NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 TCCCGCGGCCAGCCCGACGGC 0.627 NA G||| 1745 0.348442 0.2534 0.5288 5008 , , NA 11182 0.3919 NA 0.3101 False NA ,,, NA NA NA 2504 0.3436 NA NA NA NA 0 G , 1104,3292 149,806,1243 26 20 22 , 0.5 0 8 dbSNP_119 22 2342,6218 348,1646,2286 no intron,intron DLC1 NM_006094.4,NM_182643.2 , 497,2452,3529 GG,GA,AA 27.3598,25.1137,26.5977 , , 12990422 3446,9510 2198 4280 6478 SO:0001627 intron_variant AF035119 CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1 8p22 2014-06-20 2014-06-20 ENSG00000164741 ENSG00000164741 10395 Rho GTPase activating proteins, StAR-related lipid transfer (START) domain containing 2897 protein-coding gene gene with protein product StAR-related lipid transfer (START) domain containing 12 604258 deleted in liver cancer 1 NA 9605766, 11214970 Standard NM_182643, NM_006094 NM_182643 NA Approved HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP uc003wwm.2 Q96QB1 OTTHUMG00000090825 ENST00000276297.4:c.1349-17256T>C chr8.hg19:g.12990422A>G NA B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2 hg19 CCDS5989.1 0.02 16.29299 GCCxGCC COVERED NOVEL DLC1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000207632.2 6 78.985615 KEEP 0 0 0 263 7825 AA 1 1 0 - 14 60 466 0 0 26.979917 389 60 12906 1046 ENST00000276297.4 0.034739 1 DLC1 10395 __UNKNOWN__ __UNKNOWN__ 8 12990518 12990518 __UNKNOWN__ Intron SNP T T A rs13275331 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:12990518T>A ENST00000276297.4 - 6 1758 DLC1_ENST00000358919.2_5'UTR|DLC1_ENST00000512044.2_Intron NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN DLC1 Rho GTPase activating protein NA NA actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634) lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169) NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 GCGGAAGCGCTGTGGGGAAGT 0.677 NA A||| 1740 0.347444 0.2526 0.5274 5008 , , NA 10439 0.3919 NA 0.3091 False NA ,,, NA NA NA 2504 0.3415 NA NA NA NA 0 A , 1138,3262 153,832,1215 27 22 24 , -7.6 0 8 dbSNP_121 24 2469,6117 364,1741,2188 no utr-5,intron DLC1 NM_006094.4,NM_182643.2 , 517,2573,3403 AA,AT,TT 28.7561,25.8636,27.7761 , , 12990518 3607,9379 2200 4293 6493 SO:0001627 intron_variant AF035119 CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1 8p22 2014-06-20 2014-06-20 ENSG00000164741 ENSG00000164741 10395 Rho GTPase activating proteins, StAR-related lipid transfer (START) domain containing 2897 protein-coding gene gene with protein product StAR-related lipid transfer (START) domain containing 12 604258 deleted in liver cancer 1 NA 9605766, 11214970 Standard NM_182643, NM_006094 NM_182643 NA Approved HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP uc003wwm.2 Q96QB1 OTTHUMG00000090825 ENST00000276297.4:c.1349-17352A>T chr8.hg19:g.12990518T>A NA B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2 hg19 CCDS5989.1 0.02 17.064111 CGCxGTG COVERED NOVEL DLC1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000207632.2 4 56.859452 KEEP 0 6 167 248 7613 TT 1 1 0 - 14 60 511 0 0 31.256997 398 60 14073 856 ENST00000276297.4 0.033981 1 TUSC3 7991 __UNKNOWN__ __UNKNOWN__ 8 15606182 15606182 __UNKNOWN__ Intron SNP G G A rs7820648 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:15606182G>A ENST00000503731.1 + 9 1176 TUSC3_ENST00000382020.4_Intron|TUSC3_ENST00000506802.1_Intron NM_006765.3 NP_006756.2 Q13454 TUSC3_HUMAN tumor suppressor candidate 3 NA NA cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279) endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|oligosaccharyltransferase complex (GO:0008250) magnesium ion transmembrane transporter activity (GO:0015095) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2) 28 Colorectal(111;0.113) ctgacagcatgtagtttCTTT 0.338 NA A||| 2774 0.553914 0.5983 0.6354 5008 , , NA 15138 0.621 NA 0.4851 False NA ,,, NA NA NA 2504 0.4376 NA NA NA NA 0 A , 1030,722 303,424,149 175 174 174 , -5.4 0 8 dbSNP_116 174 1986,1996 484,1018,489 no intron,intron TUSC3 NM_006765.3,NM_178234.2 , 787,1442,638 AA,AG,GG 49.8744,41.21,47.4015 , , 15606182 3016,2718 876 1991 2867 SO:0001627 intron_variant AK026149 CCDS5993.1, CCDS5994.1 8p22 2010-10-22 ENSG00000104723 ENSG00000104723 7991 30242 protein-coding gene gene with protein product oligosaccharyltransferase 3 homolog A (S. cerevisiae) 601385 NA 8661104, 10097140 Standard NM_006765 NM_178234 NA Approved MGC13453, N33, OST3A, MRT7 uc003wwt.3 Q13454 OTTHUMG00000094803 ENST00000503731.1:c.1028+208G>A chr8.hg19:g.15606182G>A NA A8MSM0|D3DSP2|Q14911|Q14912|Q96FW0 hg19 CCDS5994.1 0.02 12.542341 CATxTAG COVERED NOVEL TUSC3-007 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000365367.1 3 19.864934 KEEP 0 0 0 66 2352 GG 1 1 0 + 10 60 371 0 0 22.432439 319 60 12024 466 ENST00000503731.1 0.030395 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 15663805 15663805 __UNKNOWN__ IGR SNP C C A rs73199378 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:15663805C>A NA NA TUSC3 (39647 upstream) : RP11-77B22.2 (167018 downstream) NA NA NA AATGTGTACACCACATGGACT 0.458 NA C||| 603 0.120407 0.1309 0.085 5008 , , NA 20171 0.1389 NA 0.1233 False NA ,,, NA NA NA 2504 0.1094 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr8.hg19:g.15663805C>A NA hg19 0.02 4.286492 ACAxCAC COVERED NOVEL 0 1 3.00996 KEEP 0 0 0 10 365 CC 0.992708 0.992708 0 10 60 360 0 0 24.914122 137 60 4915 175 0.068027 1 VPS37A 137492 __UNKNOWN__ __UNKNOWN__ 8 17144020 17144020 __UNKNOWN__ Intron SNP C C A rs3793428 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:17144020C>A ENST00000324849.4 + 11 1868 VPS37A_ENST00000521829.1_Intron NM_001145152.1|NM_152415.2 NP_001138624.1|NP_689628.2 Q8NEZ2 VP37A_HUMAN vacuolar protein sorting 37 homolog A (S. cerevisiae) NA NA cell death (GO:0008219)|endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068) centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634) autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1) 10 Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212) GCCTGTTCATCAGCCTTAAGC 0.308 NA c||| 2052 0.409744 0.584 0.3804 5008 , , NA 18325 0.5813 NA 0.169 False NA ,,, NA NA NA 2504 0.2658 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS6001.1, CCDS47811.1 8p22 2012-06-29 2006-04-04 ENSG00000155975 ENSG00000155975 137492 24928 protein-coding gene gene with protein product hepatocellular carcinoma related protein 1 609927 vacuolar protein sorting 37A (yeast), polyglutamine binding protein 2 PQBP2 NA 15240819, 15218037, 22717650 Standard NM_152415 NM_152415 NA Approved FLJ32642, HCRP1, SPG53 uc003wxj.3 Q8NEZ2 OTTHUMG00000130785 ENST00000324849.4:c.1191+84C>A chr8.hg19:g.17144020C>A NA Q336D5|Q6NW27|Q8N3D7|Q8TBL7|Q96DL9 hg19 CCDS6001.1 0.02 8.208532 CATxAGC COVERED NOVEL VPS37A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253301.2 3 9.932366 KEEP 0 0 0 33 1160 CC 0.999998 0.999998 0 + 10 60 364 0 0 23.256713 223 60 8444 295 ENST00000324849.4 0.042918 1 MTMR7 9108 __UNKNOWN__ __UNKNOWN__ 8 17156293 17156293 __UNKNOWN__ 3'UTR SNP G G C rs2246121 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:17156293G>C ENST00000180173.5 - 0 3095 VPS37A_ENST00000521162.1_Intron NM_004686.4 NP_004677.3 Q9Y216 MTMR7_HUMAN myotubularin related protein 7 NA NA inositol phosphate dephosphorylation (GO:0046855)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|membrane (GO:0016020) protein tyrosine phosphatase activity (GO:0004725) breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 32 Colorectal(111;0.112) TAAGATAGGGGAGGGACTCTC 0.358 NA G||| 2165 0.432308 0.6142 0.3991 5008 , , NA 16218 0.5893 NA 0.2018 False NA ,,, NA NA NA 2504 0.2853 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF073482 CCDS34851.1 8p22 2011-06-09 ENSG00000003987 ENSG00000003987 9108 Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins 7454 protein-coding gene gene with protein product 603562 NA 9736772, 12890864 Standard NM_004686 NM_004686 NA Approved uc003wxm.3 Q9Y216 OTTHUMG00000163771 ENST00000180173.5:c.*1078C>G chr8.hg19:g.17156293G>C NA A1L4K9|B4DG87|Q68DX4 hg19 CCDS34851.1 0.02 7.088938 GGGxAGG COVERED NOVEL MTMR7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000375311.1 0 10.23293 KEEP 0 0 0 34 1176 GG 0.999998 0.999998 0 - 9 60 347 0 0 23.780403 158 60 5784 230 ENST00000180173.5 0.053892 1 MTMR7 9108 __UNKNOWN__ __UNKNOWN__ 8 17159259 17159259 __UNKNOWN__ Intron SNP T T C rs4921746 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:17159259T>C ENST00000180173.5 - 13 1655 MTMR7_ENST00000398099.3_Intron|MTMR7_ENST00000521857.1_3'UTR NM_004686.4 NP_004677.3 Q9Y216 MTMR7_HUMAN myotubularin related protein 7 NA NA inositol phosphate dephosphorylation (GO:0046855)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|membrane (GO:0016020) protein tyrosine phosphatase activity (GO:0004725) breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 32 Colorectal(111;0.112) GTCTCCCCTTTACCAATTATA 0.308 NA T||| 2162 0.431709 0.6188 0.3905 5008 , , NA 17539 0.5923 NA 0.1799 False NA ,,, NA NA NA 2504 0.3016 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF073482 CCDS34851.1 8p22 2011-06-09 ENSG00000003987 ENSG00000003987 9108 Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins 7454 protein-coding gene gene with protein product 603562 NA 9736772, 12890864 Standard NM_004686 NM_004686 NA Approved uc003wxm.3 Q9Y216 OTTHUMG00000163771 ENST00000180173.5:c.1620+403A>G chr8.hg19:g.17159259T>C NA A1L4K9|B4DG87|Q68DX4 hg19 CCDS34851.1 0.02 2.189004 CTTxACC COVERED NOVEL MTMR7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000375311.1 2 3.611319 KEEP 0 0 0 12 390 TT 0.993634 0.993496 0 - 4 60 160 0 0 10.783523 87 60 3132 126 ENST00000180173.5 0.043956 0.999862 SLC7A2 6542 __UNKNOWN__ __UNKNOWN__ 8 17425296 17425296 __UNKNOWN__ 3'UTR SNP C C T rs956776|rs199592317 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:17425296C>T ENST00000494857.1 + 0 4836 SLC7A2_ENST00000004531.10_3'UTR|SLC7A2_ENST00000398090.3_3'UTR|SLC7A2_ENST00000470360.1_3'UTR NM_001008539.3 NP_001008539.3 P52569 CTR2_HUMAN solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 NA NA amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810) integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886) basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1) 25 Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216) L-Lysine(DB00123)|L-Ornithine(DB00129) CTCTTTAAGACGTATTTATAA 0.274 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D29990 CCDS6002.2, CCDS34852.1, CCDS55203.1 8p22 2013-05-22 ENSG00000003989 ENSG00000003989 6542 Solute carriers 11060 protein-coding gene gene with protein product 601872 ATRC2 NA 8954799 Standard NM_003046 NM_001164771 NA Approved CAT-2, HCAT2 uc011kye.2 P52569 OTTHUMG00000130819 ENST00000494857.1:c.*2641C>T chr8.hg19:g.17425296C>T NA B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6 hg19 CCDS34852.1 0.02 2.196475 AGAxGTA COVERED NOVEL SLC7A2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253367.3 1 3.912314 KEEP 0 0 0 13 438 CC 0.994391 0.974032 0 + 5 60 182 0 0 13.269661 51 60 1825 83 ENST00000494857.1 0.089286 0.979526 PDGFRL 5157 __UNKNOWN__ __UNKNOWN__ 8 17453739 17453739 __UNKNOWN__ Intron SNP C C T rs62498033 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:17453739C>T ENST00000541323.1 + 3 798 PDGFRL_ENST00000398074.3_Intron|PDGFRL_ENST00000251630.6_Intron NM_006207.2 NP_006198.1 Q15198 PGFRL_HUMAN platelet-derived growth factor receptor-like NA NA G-protein coupled receptor signaling pathway (GO:0007186)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791) extracellular region (GO:0005576) platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5) 9 Colorectal(111;0.0752) TGACTCTGACCGGGCTGGGGG 0.622 NA C||| 899 0.179513 0.0182 0.1614 5008 , , NA 14664 0.2669 NA 0.1978 False NA ,,, NA NA NA 2504 0.3016 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D37965 CCDS6003.1 8p22-p21.3 2013-01-29 ENSG00000104213 ENSG00000104213 5157 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 8805 protein-coding gene gene with protein product 604584 NA Standard NM_006207 NM_006207 NA Approved PRLTS uc003wxr.3 Q15198 OTTHUMG00000130818 ENST00000541323.1:c.353+6465C>T chr8.hg19:g.17453739C>T NA A8K085|Q6FH04 hg19 CCDS6003.1 0.02 -0.122824 GACxGGG COVERED NOVEL PDGFRL-202 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253366.3 0 2.407744 KEEP 0 0 0 8 278 CC 0.99257 0.194853 0 + 9 60 330 0 0 33.330885 5 60 182 30 ENST00000541323.1 0.642857 0.196312 FGL1 2267 __UNKNOWN__ __UNKNOWN__ 8 17731961 17731961 __UNKNOWN__ Missense_Mutation SNP G G A rs2653406 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:17731961G>A ENST00000398056.2 - 6 1129 c.314C>T c.(313-315)cCa>cTa p.P105L FGL1_ENST00000398054.1_Missense_Mutation_p.P105L|FGL1_ENST00000381840.2_Missense_Mutation_p.P105L|FGL1_ENST00000381841.2_Missense_Mutation_p.P105L|FGL1_ENST00000518650.1_Missense_Mutation_p.P105L|FGL1_ENST00000427924.1_Missense_Mutation_p.P105L|FGL1_ENST00000522444.1_Missense_Mutation_p.P105L Q08830 FGL1_HUMAN fibrinogen-like 1 105 Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}. NA P -> L (in dbSNP:rs2653406). {ECO:0000269|PubMed:11470158, ECO:0000269|Ref.6}. adipose tissue development (GO:0060612)|cholesterol metabolic process (GO:0008203)|regulation of glucose metabolic process (GO:0010906)|response to stilbenoid (GO:0035634) extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577) NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4) 13 Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215) AAATTCTGCTGGGCTCTGGAG 0.378 NA G||| 771 0.153954 0.264 0.1715 5008 , , NA 16358 0.1161 NA 0.0736 False NA ,,, NA NA NA 2504 0.1145 NA NA NA NA 0 G LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO 1065,3341 387.5+/-326.5 125,815,1263 129 130 130 314,314,314,314 2.5 0.8 8 dbSNP_100 130 719,7881 175.8+/-225.7 27,665,3608 yes missense,missense,missense,missense FGL1 NM_004467.3,NM_147203.2,NM_201552.1,NM_201553.1 98,98,98,98 152,1480,4871 AA,AG,GG 8.3605,24.1716,13.7167 benign,benign,benign,benign 105/313,105/313,105/313,105/313 17731961 1784,11222 2203 4300 6503 SO:0001583 missense D14446 CCDS6004.1 8p22 2013-02-06 ENSG00000104760 ENSG00000104760 2267 Fibrinogen C domain containing 3695 protein-coding gene gene with protein product 605776 NA 8390249 Standard NM_004467 NM_004467 NA Approved HFREP-1 uc003wyb.3 Q08830 OTTHUMG00000096989 ENST00000398056.2:c.314C>T chr8.hg19:g.17731961G>A ENSP00000381133:p.Pro105Leu NA A6NKU4|Q4PJH9|Q53YF1|Q8NG32|Q96KW6|Q96QM6 hg19 CCDS6004.1 0.02 10.853344 GCTxGGC COVERED 330 0.1510989010989011 137 0.2784552845528455 68 0.1878453038674033 72 0.1258741258741259 53 0.06992084432717678 G 11.87 1.767975 0.31320 0.241716 0.083605 ENSG00000104760 ENST00000221204;ENST00000398056;ENST00000521427;ENST00000522444;ENST00000381841;ENST00000427924;ENST00000398054;ENST00000381840;ENST00000518650 T;T;T;T;T;T;T 0.76060 -0.99;-0.99;-0.99;-0.99;-0.99;-0.99;-0.99 5.36 2.49 0.30216 Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1); 0.576086 0.20730 N 0.086739 T 0.00012 0.0000 N 0.16708 0.43 0.22989 P 0.99846655 B;B;B 0.22541 0.005;0.071;0.003 B;B;B 0.21917 0.01;0.037;0.012 T 0.08994 -1.0695 9 0.18276 T 0.48 . 7.4085 0.27004 0.1461:0.0:0.7169:0.1369 rs2653406;rs52824480;rs61075940;rs2653406 75;105;105 E7ERS0;Q8NG32;Q08830 .;.;FGL1_HUMAN L 105;105;75;105;105;105;105;105;105 ENSP00000381133:P105L;ENSP00000429757:P105L;ENSP00000371263:P105L;ENSP00000401952:P105L;ENSP00000381131:P105L;ENSP00000371262:P105L;ENSP00000428430:P105L ENSP00000221204:P105L P - 2 0 FGL1 17776241 0.996000 0.38824 0.776000 0.31678 0.930000 0.56654 2.362000 0.44169 0.304000 0.22809 0.650000 0.86243 CCA NOVEL FGL1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000375254.1 1 19.633364 KEEP 0 2 62 87 3074 GG 1 1 0 - 10 60 370 0 0 23.171792 262 60 9814 460 ENST00000398056.2 0.036765 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 17773110 17773110 __UNKNOWN__ IGR SNP T T A rs11984918 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:17773110T>A NA NA FGL1 (5236 upstream) : PCM1 (7238 downstream) NA NA NA aacagagtaatcaagttttct 0.413 NA T||| 507 0.101238 0.208 0.036 5008 , , NA 20427 0.0595 NA 0.0527 False NA ,,, NA NA NA 2504 0.0961 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr8.hg19:g.17773110T>A NA hg19 0.02 -0.412285 TAAxCAA COVERED NOVEL 0 1 3.308954 KEEP 0 0 0 11 318 TT 0.993072 0.935217 0 5 60 163 0 0 11.781589 42 60 1504 59 0.106383 0.941741 PCM1 5108 __UNKNOWN__ __UNKNOWN__ 8 17794792 17794792 __UNKNOWN__ Silent SNP G G A rs375606240|rs17691680 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:17794792G>A ENST00000519253.1 + 4 497 c.246G>A c.(244-246)acG>acA p.T82T PCM1_ENST00000518537.1_Silent_p.T82T|PCM1_ENST00000524226.1_Silent_p.T82T|PCM1_ENST00000518936.1_3'UTR|PCM1_ENST00000325083.8_Silent_p.T82T Q15154 PCM1_HUMAN pericentriolar material 1 82 NA centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539) centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234) identical protein binding (GO:0042802) PCM1/JAK2(30) breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 48 Colorectal(111;0.0789) CTCCACATACGTTCCCACACA 0.418 NA T RET, JAK2 papillary thyroid, CML, MPD G||| 141 0.028155 0.0083 0.0115 5008 , , NA 15642 0.0496 NA 0.0179 False NA ,,, NA NA NA 2504 0.0552 NA NA NA Dom yes 8 8p22-p21.3 5108 pericentriolar material 1 (PTC4) E, L 0 G 43,4087 0,43,2022 50 51 50 246 -10.1 0 8 dbSNP_123 50 311,8067 2,307,3880 no coding-synonymous PCM1 NM_006197.3 2,350,5902 AA,AG,GG 3.7121,1.0412,2.8302 82/2025 17794792 354,12154 2065 4189 6254 SO:0001819 synonymous_variant CCDS47812.1 8p22-p21.3 2008-08-08 ENSG00000078674 ENSG00000078674 5108 8727 protein-coding gene gene with protein product 600299 NA 8120099, 15659651 Standard NM_006197 NM_006197 NA Approved PTC4 uc003wyi.4 Q15154 OTTHUMG00000163699 ENST00000519253.1:c.246G>A chr8.hg19:g.17794792G>A NA Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2 hg19 0.02 11.276764 TACxTTC COVERED NOVEL PCM1-003 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000374800.1 0 25.817054 KEEP 0 1 29 96 3320 GG 1 1 0 + 11 60 415 0 0 26.406228 281 60 9852 498 ENST00000519253.1 0.037671 1 NAT1 9 __UNKNOWN__ __UNKNOWN__ 8 18077045 18077045 __UNKNOWN__ Intron SNP T T C rs28359526 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:18077045T>C ENST00000517492.1 + 2 632 NAT1_ENST00000518029.1_Intron|NAT1_ENST00000535084.1_Intron|NAT1_ENST00000517441.1_Intron|NAT1_ENST00000545197.1_Intron|NAT1_ENST00000539092.1_Intron|NAT1_ENST00000307719.4_Intron|NAT1_ENST00000541942.1_Intron Q8IZM9 S38A6_HUMAN N-acetyltransferase 1 (arylamine N-acetyltransferase) NA NA amino acid transport (GO:0006865)|sodium ion transport (GO:0006814) integral component of membrane (GO:0016021) NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(2)|urinary_tract(1) 9 Colorectal(111;0.0519)|COAD - Colon adenocarcinoma(73;0.208) CCTAAGCACGTTCACTCTGCC 0.383 NA T||| 85 0.0169728 0.0038 0.013 5008 , , NA 18494 0.006 NA 0.0249 False NA ,,, NA NA NA 2504 0.0409 NA NA NA NA 0 T ,,,,,,, 3,1381 0,3,689 43 35 38 ,,,,,,, -0.8 0 8 dbSNP_125 38 83,3099 1,81,1509 no intron,intron,intron,intron,intron,intron,intron,intron NAT1 NM_000662.5,NM_001160170.1,NM_001160171.1,NM_001160172.1,NM_001160173.1,NM_001160175.1,NM_001160176.1,NM_001160179.1 ,,,,,,, 1,84,2198 CC,CT,TT 2.6084,0.2168,1.8835 ,,,,,,, ,,,,,,, 18077045 86,4480 692 1591 2283 SO:0001627 intron_variant BC047666 CCDS6007.1, CCDS55205.1 8p22 2012-01-18 ENSG00000171428 ENSG00000171428 9 2.3.1.5 7645 protein-coding gene gene with protein product 108345 AAC1 NA 7773298 Standard NM_000662 NM_001160174 NA Approved uc003wyt.3 P18440 OTTHUMG00000097001 ENST00000517492.1:c.-7+47T>C chr8.hg19:g.18077045T>C NA C9JWA6|Q86SY5 hg19 CCDS6007.1 0.02 2.341618 ACGxTCA COVERED NOVEL NAT1-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000374828.1 0 4.815156 KEEP 0 0 0 16 529 TT 0.997832 0.997455 0 + 4 60 161 0 0 11.02644 80 60 2844 122 ENST00000517492.1 0.047619 0.999622 NAT1 9 __UNKNOWN__ __UNKNOWN__ 8 18079517 18079517 __UNKNOWN__ 5'UTR SNP A A T rs4986989 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:18079517A>T ENST00000520546.1 + 0 232 NAT1_ENST00000518029.1_Intron|NAT1_ENST00000535084.1_Intron|NAT1_ENST00000517441.1_Intron|NAT1_ENST00000545197.1_Intron|NAT1_ENST00000517492.1_Intron|NAT1_ENST00000539092.1_Intron|NAT1_ENST00000307719.4_Intron|NAT1_ENST00000541942.1_Intron Q8IZM9 S38A6_HUMAN N-acetyltransferase 1 (arylamine N-acetyltransferase) NA NA amino acid transport (GO:0006865)|sodium ion transport (GO:0006814) integral component of membrane (GO:0016021) NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(2)|urinary_tract(1) 9 Colorectal(111;0.0519)|COAD - Colon adenocarcinoma(73;0.208) GTAAAAGTAAAATGATTTGCT 0.299 NA T||| 84 0.0167732 0.003 0.013 5008 , , NA 20107 0.006 NA 0.0249 False NA ,,, NA NA NA 2504 0.0409 NA NA NA NA 0 T ,,,,,,,, 16,4390 0,16,2187 77 79 78 ,,,,,,,, -1.2 0 8 dbSNP_111 78 206,8394 3,200,4097 no intron,intron,intron,intron,intron,utr-5,intron,intron,intron NAT1 NM_000662.5,NM_001160170.1,NM_001160171.1,NM_001160172.1,NM_001160173.1,NM_001160174.1,NM_001160175.1,NM_001160176.1,NM_001160179.1 ,,,,,,,, 3,216,6284 TT,TA,AA 2.3953,0.3631,1.7069 ,,,,,,,, ,,,,,,,, 18079517 222,12784 2203 4300 6503 SO:0001623 5_prime_UTR_variant BC047666 CCDS6007.1, CCDS55205.1 8p22 2012-01-18 ENSG00000171428 ENSG00000171428 9 2.3.1.5 7645 protein-coding gene gene with protein product 108345 AAC1 NA 7773298 Standard NM_000662 NM_001160174 NA Approved uc003wyt.3 P18440 OTTHUMG00000097001 ENST00000520546.1:c.-40A>T chr8.hg19:g.18079517A>T NA C9JWA6|Q86SY5 hg19 CCDS6007.1 0.02 12.391226 TAAxATG COVERED NOVEL NAT1-007 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000374829.2 4 9.026678 KEEP 0 0 0 30 957 AA 0.999997 0.999997 0 + 12 60 419 0 0 25.315308 323 60 11422 386 ENST00000520546.1 0.035821 1 NAT1 9 __UNKNOWN__ __UNKNOWN__ 8 18080001 18080001 __UNKNOWN__ Missense_Mutation SNP G G A rs4987076 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:18080001G>A ENST00000517492.1 + 3 1083 c.445G>A c.(445-447)Gtc>Atc p.V149I NAT1_ENST00000518029.1_Missense_Mutation_p.V149I|NAT1_ENST00000535084.1_Missense_Mutation_p.V149I|NAT1_ENST00000517441.1_3'UTR|NAT1_ENST00000545197.1_Missense_Mutation_p.V211I|NAT1_ENST00000520546.1_Missense_Mutation_p.V149I|NAT1_ENST00000539092.1_Missense_Mutation_p.V149I|NAT1_ENST00000307719.4_Missense_Mutation_p.V149I|NAT1_ENST00000541942.1_Missense_Mutation_p.V149I Q8IZM9 S38A6_HUMAN N-acetyltransferase 1 (arylamine N-acetyltransferase) 153 NA amino acid transport (GO:0006865)|sodium ion transport (GO:0006814) integral component of membrane (GO:0016021) NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(2)|urinary_tract(1) 9 Colorectal(111;0.0519)|COAD - Colon adenocarcinoma(73;0.208) GGTGCCTTGTGTCTTCCGTTT 0.458 NA A||| 85 0.0169728 0.003 0.013 5008 , , NA 19565 0.006 NA 0.0258 False NA ,,, NA NA NA 2504 0.0409 NA NA NA NA 0 GRCh37 CM973386 NAT1 M rs4987076 A ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL 16,4390 0,16,2187 102 101 101 http://omim.org/entry/108345#0002 445,631,631,445,445,445,445,445,445 0.3 0 8 dbSNP_111 101 206,8394 3,200,4097 yes missense,missense,missense,missense,missense,missense,missense,missense,missense NAT1 NM_001160179.1,NM_001160176.1,NM_001160175.1,NM_001160174.1,NM_001160173.1,NM_001160172.1,NM_001160171.1,NM_001160170.1,NM_000662.5 29,29,29,29,29,29,29,29,29 3,216,6284 AA,AG,GG 2.3953,0.3631,1.7069 benign,benign,benign,benign,benign,benign,benign,benign,benign 149/291,211/353,211/353,149/291,149/291,149/291,149/291,149/291,149/291 18080001 222,12784 2203 4300 6503 SO:0001583 missense BC047666 CCDS6007.1, CCDS55205.1 8p22 2012-01-18 ENSG00000171428 ENSG00000171428 9 2.3.1.5 7645 protein-coding gene gene with protein product 108345 AAC1 NA 7773298 Standard NM_000662 NM_001160174 NA Approved uc003wyt.3 P18440 OTTHUMG00000097001 ENST00000517492.1:c.445G>A chr8.hg19:g.18080001G>A ENSP00000429407:p.Val149Ile NA C9JWA6|Q86SY5 hg19 CCDS6007.1 0.02 16.699585 TGTxTCT COVERED 35 0.016025641025641024 2 0.0040650406504065045 6 0.016574585635359115 3 0.005244755244755245 24 0.0316622691292876 . 0.015 -1.549352 0.00926 0.003631 0.023953 ENSG00000171428 ENST00000535084;ENST00000307719;ENST00000545197;ENST00000539092;ENST00000541942;ENST00000518029;ENST00000517492;ENST00000520546 T;T;T;T;T;T;T;T 0.01918 4.56;4.56;4.56;4.56;4.56;4.56;4.56;4.56 4.35 0.345 0.16011 . 0.279299 0.34750 N 0.003703 T 0.00271 0.0008 N 0.00621 -1.32 0.09310 A 4.46245e-12 B;B 0.06786 0.001;0.0 B;B 0.10450 0.005;0.003 T 0.47114 -0.9142 9 0.02654 T 1 . 8.5403 0.33388 0.6516:0.0:0.3484:0.0 rs4987076;rs17642069;rs52790966;rs59667199;rs4987076 211;149 F5H5R8;P18440 .;ARY1_HUMAN I 149;149;211;149;149;149;149;149 ENSP00000444609:V149I;ENSP00000307218:V149I;ENSP00000443194:V211I;ENSP00000440434:V149I;ENSP00000440900:V149I;ENSP00000428270:V149I;ENSP00000429407:V149I;ENSP00000429341:V149I ENSP00000307218:V149I V + 1 0 NAT1 18124281 0.721000 0.28007 0.001000 0.08648 0.510000 0.34073 1.342000 0.33919 -0.433000 0.07286 -0.550000 0.04213 GTC NOVEL NAT1-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000374828.1 3 20.4624 KEEP 0 0 0 68 2425 GG 1 1 0 + 14 60 501 0 0 30.275901 397 60 15029 575 ENST00000517492.1 0.034063 1 NAT1 9 __UNKNOWN__ __UNKNOWN__ 8 18080015 18080015 __UNKNOWN__ Silent SNP G G A rs4986990 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:18080015G>A ENST00000517492.1 + 3 1097 c.459G>A c.(457-459)acG>acA p.T153T NAT1_ENST00000518029.1_Silent_p.T153T|NAT1_ENST00000535084.1_Silent_p.T153T|NAT1_ENST00000517441.1_3'UTR|NAT1_ENST00000545197.1_Silent_p.T215T|NAT1_ENST00000520546.1_Silent_p.T153T|NAT1_ENST00000539092.1_Silent_p.T153T|NAT1_ENST00000307719.4_Silent_p.T153T|NAT1_ENST00000541942.1_Silent_p.T153T Q8IZM9 S38A6_HUMAN N-acetyltransferase 1 (arylamine N-acetyltransferase) 157 NA amino acid transport (GO:0006865)|sodium ion transport (GO:0006814) integral component of membrane (GO:0016021) NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(2)|urinary_tract(1) 9 Colorectal(111;0.0519)|COAD - Colon adenocarcinoma(73;0.208) TCCGTTTGACGGAAGAGAATG 0.453 NA G||| 85 0.0169728 0.003 0.013 5008 , , NA 19637 0.0069 NA 0.0249 False NA ,,, NA NA NA 2504 0.0409 NA NA NA NA 0 G ,,,,,,,, 16,4390 0,16,2187 93 92 93 459,459,459,459,459,459,645,645,459 1.7 0.9 8 dbSNP_111 93 206,8394 3,200,4097 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous NAT1 NM_000662.5,NM_001160170.1,NM_001160171.1,NM_001160172.1,NM_001160173.1,NM_001160174.1,NM_001160175.1,NM_001160176.1,NM_001160179.1 ,,,,,,,, 3,216,6284 AA,AG,GG 2.3953,0.3631,1.7069 ,,,,,,,, 153/291,153/291,153/291,153/291,153/291,153/291,215/353,215/353,153/291 18080015 222,12784 2203 4300 6503 SO:0001819 synonymous_variant BC047666 CCDS6007.1, CCDS55205.1 8p22 2012-01-18 ENSG00000171428 ENSG00000171428 9 2.3.1.5 7645 protein-coding gene gene with protein product 108345 AAC1 NA 7773298 Standard NM_000662 NM_001160174 NA Approved uc003wyt.3 P18440 OTTHUMG00000097001 ENST00000517492.1:c.459G>A chr8.hg19:g.18080015G>A NA C9JWA6|Q86SY5 hg19 CCDS6007.1 0.02 17.632664 GACxGAA COVERED NOVEL NAT1-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000374828.1 3 19.260089 KEEP 0 0 0 64 2145 GG 1 1 0 + 15 60 560 0 0 35.273443 392 60 13662 579 ENST00000517492.1 0.036855 1 NAT1 9 __UNKNOWN__ __UNKNOWN__ 8 18080833 18080833 __UNKNOWN__ 3'UTR SNP A A G rs28359534 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:18080833A>G ENST00000517492.1 + 0 1915 NAT1_ENST00000518029.1_3'UTR|NAT1_ENST00000535084.1_3'UTR|NAT1_ENST00000545197.1_3'UTR|NAT1_ENST00000539092.1_3'UTR|NAT1_ENST00000307719.4_3'UTR|NAT1_ENST00000541942.1_3'UTR Q8IZM9 S38A6_HUMAN N-acetyltransferase 1 (arylamine N-acetyltransferase) NA NA amino acid transport (GO:0006865)|sodium ion transport (GO:0006814) integral component of membrane (GO:0016021) NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(2)|urinary_tract(1) 9 Colorectal(111;0.0519)|COAD - Colon adenocarcinoma(73;0.208) ATTTGAAAAAAAGTGGTTTTT 0.269 NA A||| 84 0.0167732 0.003 0.013 5008 , , NA 11020 0.006 NA 0.0249 False NA ,,, NA NA NA 2504 0.0409 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC047666 CCDS6007.1, CCDS55205.1 8p22 2012-01-18 ENSG00000171428 ENSG00000171428 9 2.3.1.5 7645 protein-coding gene gene with protein product 108345 AAC1 NA 7773298 Standard NM_000662 NM_001160174 NA Approved uc003wyt.3 P18440 OTTHUMG00000097001 ENST00000517492.1:c.*404A>G chr8.hg19:g.18080833A>G NA C9JWA6|Q86SY5 hg19 CCDS6007.1 0.02 8.709228 AAAxAGT COVERED NOVEL NAT1-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000374828.1 0 13.838577 KEEP 0 0 0 46 1462 AA 1 1 0 + 7 60 266 0 0 16.630598 202 60 7187 317 ENST00000517492.1 0.033493 1 PSD3 23362 __UNKNOWN__ __UNKNOWN__ 8 18432578 18432578 __UNKNOWN__ Intron SNP C C G rs2248559 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:18432578C>G ENST00000327040.8 - 13 2742 PSD3_ENST00000286485.8_Intron|PSD3_ENST00000523619.1_Intron|PSD3_ENST00000440756.2_Intron|PSD3_ENST00000428502.2_Intron NM_015310.3 NP_056125.3 Q9NYI0 PSD3_HUMAN pleckstrin and Sec7 domain containing 3 NA NA neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012) cell junction (GO:0030054)|postsynaptic membrane (GO:0045211) ARF guanyl-nucleotide exchange factor activity (GO:0005086) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183) TTGTTCCTTGCAATAAAGTAG 0.348 NA G||| 4608 0.920128 0.8578 0.9697 5008 , , NA 17802 0.8829 NA 0.9612 False NA ,,, NA NA NA 2504 0.9652 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF243495 CCDS34854.1, CCDS43720.1 8p21.3 2013-01-10 ENSG00000156011 ENSG00000156011 23362 Pleckstrin homology (PH) domain containing 19093 protein-coding gene gene with protein product 614440 NA Standard NM_015310 NM_206909 NA Approved KIAA0942, HCA67, EFA6R, DKFZp761K1423 uc003wza.3 Q9NYI0 OTTHUMG00000163711 ENST00000327040.8:c.2639+59G>C chr8.hg19:g.18432578C>G NA A6NFQ4|E9KL50|Q6B003|Q9Y2F1 hg19 CCDS43720.1 0.02 2.010123 TTGxAAT COVERED NOVEL PSD3-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000374867.1 1 8.72783 KEEP 0 0 0 29 1003 CC 0.999997 0.99996 0 - 4 60 148 0 0 9.41799 96 60 3633 146 ENST00000327040.8 0.04 0.999962 SH2D4A 63898 __UNKNOWN__ __UNKNOWN__ 8 19192192 19192192 __UNKNOWN__ Intron SNP T T C rs17128221 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:19192192T>C ENST00000518040.1 + 3 288 SH2D4A_ENST00000265807.3_Intron|SH2D4A_ENST00000519207.1_Intron Q9H788 SH24A_HUMAN SH2 domain containing 4A NA NA negative regulation of phosphatase activity (GO:0010923) cytoplasm (GO:0005737) phosphatase binding (GO:0019902) endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1) 16 Colorectal(111;0.0732) TTTGCCTCTCTTCAGAAAAAC 0.378 NA T||| 1491 0.297724 0.5129 0.1715 5008 , , NA 21370 0.2034 NA 0.2326 False NA ,,, NA NA NA 2504 0.2607 NA NA NA NA 0 T ,, 2116,2290 574.8+/-383.8 508,1100,595 54 55 55 ,, 3.2 0.9 8 dbSNP_123 55 2143,6457 365.1+/-333.8 266,1611,2423 no intron,intron,intron SH2D4A NM_001174159.1,NM_001174160.1,NM_022071.3 ,, 774,2711,3018 CC,CT,TT 24.9186,48.0254,32.7464 ,, ,, 19192192 4259,8747 2203 4300 6503 SO:0001627 intron_variant AY190323 CCDS6009.1, CCDS55206.1 8p21 2013-02-14 ENSG00000104611 ENSG00000104611 63898 Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits, SH2 domain containing 26102 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 38 614968 NA Standard NM_022071 NM_022071 NA Approved FLJ20967, SH2A, PPP1R38 uc003wzc.3 Q9H788 OTTHUMG00000097005 ENST00000518040.1:c.207-5T>C chr8.hg19:g.19192192T>C NA B4DDR1|Q5XKC1|Q6NXE9|Q86YM2|Q96C88|Q9H7F7 hg19 CCDS55206.1 0.02 5.744741 CTCxTCA COVERED NOVEL SH2D4A-002 PUTATIVE basic|appris_candidate|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000374896.1 1 8.159578 KEEP 0 1 34 39 1229 TT 1 1 0 + 6 60 208 0 0 12.525655 156 60 5895 239 ENST00000518040.1 0.037037 1 SH2D4A 63898 __UNKNOWN__ __UNKNOWN__ 8 19192332 19192332 __UNKNOWN__ Silent SNP G G T rs56005620 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:19192332G>T ENST00000518040.1 + 3 424 c.342G>T c.(340-342)tcG>tcT p.S114S SH2D4A_ENST00000265807.3_Silent_p.S159S|SH2D4A_ENST00000519207.1_Silent_p.S159S Q9H788 SH24A_HUMAN SH2 domain containing 4A 159 NA negative regulation of phosphatase activity (GO:0010923) cytoplasm (GO:0005737) phosphatase binding (GO:0019902) endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1) 16 Colorectal(111;0.0732) AGCAAGGATCGAGGCCAGCAC 0.483 NA T||| 1531 0.305711 0.5809 0.1945 5008 , , NA 17983 0.2073 NA 0.167 False NA ,,, NA NA NA 2504 0.2566 NA NA NA NA 0 T ,, 2229,2177 585.4+/-386.2 560,1109,534 98 94 95 477,342,477 -10.8 0 8 dbSNP_129 95 1608,6992 742.3+/-407.2 155,1298,2847 no coding-synonymous,coding-synonymous,coding-synonymous SH2D4A NM_001174159.1,NM_001174160.1,NM_022071.3 ,, 715,2407,3381 TT,TG,GG 18.6977,49.4099,29.5018 ,, 159/455,114/410,159/455 19192332 3837,9169 2203 4300 6503 SO:0001819 synonymous_variant AY190323 CCDS6009.1, CCDS55206.1 8p21 2013-02-14 ENSG00000104611 ENSG00000104611 63898 Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits, SH2 domain containing 26102 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 38 614968 NA Standard NM_022071 NM_022071 NA Approved FLJ20967, SH2A, PPP1R38 uc003wzc.3 Q9H788 OTTHUMG00000097005 ENST00000518040.1:c.342G>T chr8.hg19:g.19192332G>T NA B4DDR1|Q5XKC1|Q6NXE9|Q86YM2|Q96C88|Q9H7F7 hg19 CCDS55206.1 0.02 4.630173 ATCxAGG COVERED NOVEL SH2D4A-002 PUTATIVE basic|appris_candidate|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000374896.1 2 8.46003 KEEP 0 1 25 37 1259 GG 1 1 0 + 8 60 274 0 0 18.184765 134 60 4933 219 ENST00000518040.1 0.056338 1 LPL 4023 __UNKNOWN__ __UNKNOWN__ 8 19819536 19819536 __UNKNOWN__ Intron SNP T T G rs327 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:19819536T>G ENST00000311322.8 + 9 1792 NM_000237.2 NP_000228.1 P06858 LIPL_HUMAN lipoprotein lipase NA NA chylomicron remodeling (GO:0034371)|fatty acid biosynthetic process (GO:0006633)|lipoprotein metabolic process (GO:0042157)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of sequestering of triglyceride (GO:0010890)|response to cold (GO:0009409)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle remodeling (GO:0034372) anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361) apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phospholipase activity (GO:0004620)|receptor binding (GO:0005102)|triglyceride binding (GO:0017129)|triglyceride lipase activity (GO:0004806) NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 36 Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216) AST-120(DB05269)|Tyloxapol(DB06439) TGATCATGTATTATTTAAACA 0.388 NA G||| 1465 0.292532 0.4213 0.2507 5008 , , NA 22859 0.2351 NA 0.2932 False NA ,,, NA NA NA 2504 0.2065 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS6012.1 8p22 2012-10-02 ENSG00000175445 ENSG00000175445 4023 3.1.1.34 6677 protein-coding gene gene with protein product 609708 LIPD NA Standard NM_000237 NA Approved uc003wzk.4 P06858 OTTHUMG00000036645 ENST00000311322.8:c.1323-90T>G chr8.hg19:g.19819536T>G NA B2R5T9|Q16282|Q16283|Q96FC4 hg19 CCDS6012.1 0.02 8.439854 GTAxTAT COVERED NOVEL LPL-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000089113.3 1 3.308685 KEEP 0 0 0 11 320 TT 0.993072 0.993072 0 + 7 60 252 0 0 15.104698 211 60 7653 242 ENST00000311322.8 0.03211 1 LPL 4023 __UNKNOWN__ __UNKNOWN__ 8 19819724 19819724 __UNKNOWN__ Nonsense_Mutation SNP C C G rs328 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:19819724C>G ENST00000311322.8 + 9 1891 c.1421C>G c.(1420-1422)tCa>tGa p.S474* NM_000237.2 NP_000228.1 P06858 LIPL_HUMAN lipoprotein lipase 474 NA chylomicron remodeling (GO:0034371)|fatty acid biosynthetic process (GO:0006633)|lipoprotein metabolic process (GO:0042157)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of sequestering of triglyceride (GO:0010890)|response to cold (GO:0009409)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle remodeling (GO:0034372) anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361) apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phospholipase activity (GO:0004620)|receptor binding (GO:0005102)|triglyceride binding (GO:0017129)|triglyceride lipase activity (GO:0004806) NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 36 Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216) AST-120(DB05269)|Tyloxapol(DB06439) AATAAGAAGTCAGGCTGGTGA 0.502 NA C||| 463 0.0924521 0.0613 0.0634 5008 , , NA 19349 0.122 NA 0.1302 False NA ,,, NA NA NA 2504 0.0859 NA NA NA NA 0 GRCh37 CM900164 LPL M rs328 C stop/SER 291,4115 159.2+/-191.8 7,277,1919 133 123 126 http://www.ncbi.nlm.nih.gov/sites/varvu?gene 1421 4 1 8 dbSNP_36 126 832,7768 191.4+/-237.6 45,742,3513 yes stop-gained LPL NM_000237.2 52,1019,5432 GG,GC,CC http://www.ncbi.nlm.nih.gov/pubmed?term 9.6744,6.6046,8.6345 474/476 19819724 1123,11883 2203 4300 6503 SO:0001587 stop_gained CCDS6012.1 8p22 2012-10-02 ENSG00000175445 ENSG00000175445 4023 3.1.1.34 6677 protein-coding gene gene with protein product 609708 LIPD NA Standard NM_000237 NA Approved uc003wzk.4 P06858 OTTHUMG00000036645 ENST00000311322.8:c.1421C>G chr8.hg19:g.19819724C>G ENSP00000309757:p.Ser474* NA B2R5T9|Q16282|Q16283|Q96FC4 hg19 CCDS6012.1 0.02 28.571561 AGTxAGG COVERED 210 0.09615384615384616 26 0.052845528455284556 28 0.07734806629834254 63 0.11013986013986014 93 0.12269129287598944 C 42 9.203276 0.99099 0.066046 0.096744 ENSG00000175445 ENST00000311322;ENST00000535763 . . . 5.89 4.01 0.46588 . 1.169270 0.05850 N 0.621066 . . . . . . 0.27649 P 0.947441 . . . . . . . . . . . . . -7.8612 7.5989 0.28065 0.2764:0.6427:0.0:0.0808 rs328;rs3735962;rs17482566;rs52834251;rs328 . . . X 474;460 . . S + 2 0 LPL 19864004 0.980000 0.34600 1.000000 0.80357 0.994000 0.84299 0.684000 0.25364 2.793000 0.96121 0.655000 0.94253 TCA NOVEL LPL-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000089113.3 3 7.432543 KEEP 0 3 107 62 2193 CC 1 1 0 + 25 60 955 0 0 61.666227 611 60 23373 847 ENST00000311322.8 0.039308 1 LZTS1 11178 __UNKNOWN__ __UNKNOWN__ 8 20105157 20105157 __UNKNOWN__ 3'UTR SNP G G C rs3735839 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:20105157G>C ENST00000381569.1 - 0 4224 LZTS1_ENST00000265801.6_3'UTR Q9Y250 LZTS1_HUMAN leucine zipper, putative tumor suppressor 1 NA NA cell cycle (GO:0007049)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of macroautophagy (GO:0016242)|positive regulation of type I interferon production (GO:0032481)|regulation of dendrite morphogenesis (GO:0048814)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351) apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|nucleoplasm (GO:0005654)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1) 29 Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207) AGGATGGCAGGATGGGCACCG 0.527 NA G||| 1413 0.282149 0.1725 0.2118 5008 , , NA 18943 0.4266 NA 0.3121 False NA ,,, NA NA NA 2504 0.3006 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF123659 CCDS6015.1 8p22 2012-10-05 ENSG00000061337 ENSG00000061337 11178 13861 protein-coding gene gene with protein product 606551 F37/Esophageal cancer-related gene-coding leucine-zipper motif NA 10097140, 17349584 Standard NM_021020 NM_021020 NA Approved FEZ1 uc003wzr.3 Q9Y250 OTTHUMG00000097027 ENST00000381569.1:c.*2076C>G chr8.hg19:g.20105157G>C NA D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2 hg19 CCDS6015.1 0.02 9.640839 CAGxATG COVERED NOVEL LZTS1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000214122.1 1 7.824668 KEEP 0 0 0 26 886 GG 0.999957 0.999957 0 - 10 60 393 0 0 26.230495 219 60 8071 300 ENST00000381569.1 0.043668 1 GFRA2 2675 __UNKNOWN__ __UNKNOWN__ 8 21632597 21632597 __UNKNOWN__ Intron SNP G G C rs201322759 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:21632597G>C ENST00000524240.1 - 3 1006 GFRA2_ENST00000518077.1_Intron|GFRA2_ENST00000400782.4_Intron|GFRA2_ENST00000517328.1_Intron NM_001495.4 NP_001486.4 O00451 GFRA2_HUMAN GDNF family receptor alpha 2 NA NA negative regulation of protein autophosphorylation (GO:0031953)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) anchored component of membrane (GO:0031225)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886) glial cell-derived neurotrophic factor receptor activity (GO:0016167) NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1) 7 Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727) TCAGATGCGGGCTCCTCCGGG 0.602 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF002700 CCDS47816.1, CCDS55207.1 8p21.3 2008-05-02 ENSG00000168546 ENSG00000168546 2675 4244 protein-coding gene gene with protein product 601956 NA 9177201 Standard NM_001495 NM_001165038 NA Approved RETL2, GDNFRB, NTNRA, TRNR2 uc003wzu.1 O00451 OTTHUMG00000163897 ENST00000524240.1:c.356-30C>G chr8.hg19:g.21632597G>C NA E9PD47|O15316|O15328|Q58J92|Q6GTR9|Q7Z5C2 hg19 CCDS47816.1 0.02 3.871928 CGGxCTC COVERED NOVEL GFRA2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000376254.3 2 3.912647 KEEP 0 0 0 13 463 GG 0.994391 0.99439 0 - 5 60 179 0 0 11.156715 121 60 4447 162 ENST00000524240.1 0.039683 1 DOK2 9046 __UNKNOWN__ __UNKNOWN__ 8 21766900 21766900 __UNKNOWN__ Silent SNP G G A rs17853066 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:21766900G>A ENST00000276420.4 - 5 1419 c.1161C>T c.(1159-1161)gcC>gcT p.A387A DOK2_ENST00000544659.1_Silent_p.A233A NM_003974.2 NP_003965.2 O60496 DOK2_HUMAN docking protein 2, 56kDa 387 NA blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|leukocyte migration (GO:0050900)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) cytosol (GO:0005829) receptor signaling protein activity (GO:0005057) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1) 26 Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608) AATCCTGCCCGGCTGGCTGGA 0.602 NA G||| 719 0.14357 0.0991 0.0735 5008 , , NA 17901 0.3274 NA 0.1282 False NA ,,, NA NA NA 2504 0.0798 NA NA NA NA 0 G 421,3983 197.1+/-221.3 14,393,1795 49 52 51 1161 -8.2 0 8 dbSNP_123 51 976,7616 199.6+/-243.6 66,844,3386 no coding-synonymous DOK2 NM_003974.2 80,1237,5181 AA,AG,GG 11.3594,9.5595,10.7495 387/413 21766900 1397,11599 2202 4296 6498 SO:0001819 synonymous_variant AF034970 CCDS6016.1 8p21.3 2008-08-07 2002-08-29 ENSG00000147443 ENSG00000147443 9046 2991 protein-coding gene gene with protein product 604997 docking protein 2, 56kD NA 9478921, 14645010 Standard NM_003974 NM_003974 NA Approved p56dok-2, Dok-2 uc003wzy.1 O60496 OTTHUMG00000131075 ENST00000276420.4:c.1161C>T chr8.hg19:g.21766900G>A NA Q8N5A4 hg19 CCDS6016.1 0.02 4.233276 CCCxGCT COVERED NOVEL DOK2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253735.3 1 12.034802 KEEP 0 0 0 40 1314 GG 1 1 0 - 8 60 298 0 0 20.262942 134 60 4380 218 ENST00000276420.4 0.056338 1 DOK2 9046 __UNKNOWN__ __UNKNOWN__ 8 21767275 21767275 __UNKNOWN__ Silent SNP C C G rs2242240 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:21767275C>G ENST00000276420.4 - 5 1044 c.786G>C c.(784-786)gcG>gcC p.A262A DOK2_ENST00000544659.1_Silent_p.A108A NM_003974.2 NP_003965.2 O60496 DOK2_HUMAN docking protein 2, 56kDa 262 Pro-rich. NA blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|leukocyte migration (GO:0050900)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) cytosol (GO:0005829) receptor signaling protein activity (GO:0005057) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1) 26 Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608) GGGGCAGCGACGCGGGGATTG 0.667 NA G||| 1031 0.205871 0.1021 0.0994 5008 , , NA 14731 0.3819 NA 0.172 False NA ,,, NA NA NA 2504 0.2751 NA NA NA NA 0 G 466,3940 778.7+/-414.3 19,428,1756 48 56 54 786 -10.8 0 8 dbSNP_98 54 1309,7289 755.2+/-407.5 99,1111,3089 no coding-synonymous DOK2 NM_003974.2 118,1539,4845 GG,GC,CC 15.2245,10.5765,13.6496 262/413 21767275 1775,11229 2203 4299 6502 SO:0001819 synonymous_variant AF034970 CCDS6016.1 8p21.3 2008-08-07 2002-08-29 ENSG00000147443 ENSG00000147443 9046 2991 protein-coding gene gene with protein product 604997 docking protein 2, 56kD NA 9478921, 14645010 Standard NM_003974 NM_003974 NA Approved p56dok-2, Dok-2 uc003wzy.1 O60496 OTTHUMG00000131075 ENST00000276420.4:c.786G>C chr8.hg19:g.21767275C>G NA Q8N5A4 hg19 CCDS6016.1 0.02 8.940356 CGAxGCG COVERED NOVEL DOK2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253735.3 2 16.251635 KEEP 0 0 0 54 1836 CC 1 1 0 - 13 60 485 0 0 32.768397 227 60 7605 353 ENST00000276420.4 0.054167 1 XPO7 23039 __UNKNOWN__ __UNKNOWN__ 8 21827162 21827162 __UNKNOWN__ Intron SNP C C T rs2291317 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:21827162C>T ENST00000252512.9 + 3 359 XPO7_ENST00000433566.4_Intron|XPO7_ENST00000518017.1_Intron|XPO7_ENST00000434536.1_Intron NM_015024.4 NP_055839.3 Q9UIA9 XPO7_HUMAN exportin 7 NA NA mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611) cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634) nuclear export signal receptor activity (GO:0005049) autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724) GTCAAATGTACGTGTTTGTTC 0.378 NA T||| 1528 0.305112 0.2587 0.2176 5008 , , NA 20590 0.3998 NA 0.4573 False NA ,,, NA NA NA 2504 0.1759 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF064729 CCDS47818.1 8p21 2011-04-13 2003-03-11 2003-03-14 ENSG00000130227 ENSG00000130227 23039 Exportins 14108 protein-coding gene gene with protein product 606140 RAN binding protein 16 RANBP16 NA 11024021, 9872452 Standard NM_015024 NM_015024 NA Approved KIAA0745 uc003xaa.4 Q9UIA9 OTTHUMG00000163789 ENST00000252512.9:c.259+75C>T chr8.hg19:g.21827162C>T NA O94846|Q6PJK9|Q8NEK7 hg19 CCDS47818.1 0.02 7.979103 GTAxGTG COVERED NOVEL XPO7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000375494.1 2 6.919374 KEEP 0 0 0 23 704 CC 0.999892 0.999892 0 + 14 60 505 0 0 33.813023 234 60 7602 275 ENST00000252512.9 0.056452 1 XPO7 23039 __UNKNOWN__ __UNKNOWN__ 8 21827833 21827833 __UNKNOWN__ Intron SNP A A G rs4871903 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:21827833A>G ENST00000252512.9 + 4 526 XPO7_ENST00000433566.4_Intron|XPO7_ENST00000518017.1_Intron|XPO7_ENST00000434536.1_Intron NM_015024.4 NP_055839.3 Q9UIA9 XPO7_HUMAN exportin 7 NA NA mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611) cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634) nuclear export signal receptor activity (GO:0005049) autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724) TACAGTGTATATATTTGATGT 0.373 NA A||| 1576 0.314696 0.2307 0.2723 5008 , , NA 15967 0.4405 NA 0.4592 False NA ,,, NA NA NA 2504 0.18 NA NA NA NA 0 A 1067,2745 164,739,1003 52 52 52 -10.3 0 8 dbSNP_111 52 3496,4738 745,2006,1366 no intron XPO7 NM_015024.4 909,2745,2369 GG,GA,AA 42.4581,27.9906,37.8798 21827833 4563,7483 1906 4117 6023 SO:0001627 intron_variant AF064729 CCDS47818.1 8p21 2011-04-13 2003-03-11 2003-03-14 ENSG00000130227 ENSG00000130227 23039 Exportins 14108 protein-coding gene gene with protein product 606140 RAN binding protein 16 RANBP16 NA 11024021, 9872452 Standard NM_015024 NM_015024 NA Approved KIAA0745 uc003xaa.4 Q9UIA9 OTTHUMG00000163789 ENST00000252512.9:c.426+12A>G chr8.hg19:g.21827833A>G NA O94846|Q6PJK9|Q8NEK7 hg19 CCDS47818.1 0.02 3.862488 TATxTAT COVERED NOVEL XPO7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000375494.1 3 8.424341 KEEP 0 0 0 28 844 AA 0.999997 0.999997 0 + 5 60 173 0 0 10.540354 122 60 4399 166 ENST00000252512.9 0.03937 1 XPO7 23039 __UNKNOWN__ __UNKNOWN__ 8 21833965 21833965 __UNKNOWN__ Silent SNP C C T rs2306641 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:21833965C>T ENST00000252512.9 + 7 796 c.696C>T c.(694-696)atC>atT p.I232I XPO7_ENST00000433566.4_Silent_p.I233I|XPO7_ENST00000518017.1_3'UTR|XPO7_ENST00000434536.1_Silent_p.I241I NM_015024.4 NP_055839.3 Q9UIA9 XPO7_HUMAN exportin 7 232 NA mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611) cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634) nuclear export signal receptor activity (GO:0005049) autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724) TTGACTTCATCGGCACTTCCA 0.478 NA C||| 1473 0.294129 0.2186 0.2104 5008 , , NA 18198 0.4008 NA 0.4563 False NA ,,, NA NA NA 2504 0.1789 NA NA NA NA 0 C 1090,2952 163,764,1094 153 150 151 696 0.8 1 8 dbSNP_100 151 3545,4903 757,2031,1436 no coding-synonymous XPO7 NM_015024.4 920,2795,2530 TT,TC,CC 41.9626,26.9668,37.1097 232/1088 21833965 4635,7855 2021 4224 6245 SO:0001819 synonymous_variant AF064729 CCDS47818.1 8p21 2011-04-13 2003-03-11 2003-03-14 ENSG00000130227 ENSG00000130227 23039 Exportins 14108 protein-coding gene gene with protein product 606140 RAN binding protein 16 RANBP16 NA 11024021, 9872452 Standard NM_015024 NM_015024 NA Approved KIAA0745 uc003xaa.4 Q9UIA9 OTTHUMG00000163789 ENST00000252512.9:c.696C>T chr8.hg19:g.21833965C>T NA O94846|Q6PJK9|Q8NEK7 hg19 CCDS47818.1 0.02 6.785011 CATxGGC COVERED NOVEL XPO7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000375494.1 2 11.736004 KEEP 0 0 0 39 1299 CC 1 1 0 + 10 60 376 0 0 25.605944 170 60 5745 256 ENST00000252512.9 0.055556 1 XPO7 23039 __UNKNOWN__ __UNKNOWN__ 8 21845428 21845428 __UNKNOWN__ Intron SNP T T C rs2306645 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:21845428T>C ENST00000252512.9 + 15 1887 XPO7_ENST00000433566.4_Intron|XPO7_ENST00000434536.1_Intron NM_015024.4 NP_055839.3 Q9UIA9 XPO7_HUMAN exportin 7 NA NA mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611) cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634) nuclear export signal receptor activity (GO:0005049) autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724) AACTGTAAAATGTGATCTTGG 0.443 NA T||| 2847 0.56849 0.7474 0.4337 5008 , , NA 21739 0.5238 NA 0.6014 False NA ,,, NA NA NA 2504 0.4346 NA NA NA NA 0 T 963,421 341,281,70 80 66 70 5 0.9 8 dbSNP_100 70 1727,1455 475,777,339 no intron XPO7 NM_015024.4 816,1058,409 CC,CT,TT 45.726,30.4191,41.0863 21845428 2690,1876 692 1591 2283 SO:0001627 intron_variant AF064729 CCDS47818.1 8p21 2011-04-13 2003-03-11 2003-03-14 ENSG00000130227 ENSG00000130227 23039 Exportins 14108 protein-coding gene gene with protein product 606140 RAN binding protein 16 RANBP16 NA 11024021, 9872452 Standard NM_015024 NM_015024 NA Approved KIAA0745 uc003xaa.4 Q9UIA9 OTTHUMG00000163789 ENST00000252512.9:c.1787+60T>C chr8.hg19:g.21845428T>C NA O94846|Q6PJK9|Q8NEK7 hg19 CCDS47818.1 0.02 6.349421 AAAxGTG COVERED NOVEL XPO7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000375494.1 0 9.930548 KEEP 0 0 0 33 1052 TT 0.999998 0.999998 0 + 12 60 415 1 0 27.971523 172 60 6398 258 ENST00000252512.9 0.065217 1 XPO7 23039 __UNKNOWN__ __UNKNOWN__ 8 21846586 21846586 __UNKNOWN__ Silent SNP G G C rs2306646 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:21846586G>C ENST00000252512.9 + 16 1960 c.1860G>C c.(1858-1860)ctG>ctC p.L620L XPO7_ENST00000433566.4_Silent_p.L621L|XPO7_ENST00000434536.1_Silent_p.L629L NM_015024.4 NP_055839.3 Q9UIA9 XPO7_HUMAN exportin 7 620 NA mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611) cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634) nuclear export signal receptor activity (GO:0005049) autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724) TCAATGACCTGTCCATTGGAT 0.438 NA C||| 2900 0.579073 0.764 0.4352 5008 , , NA 18527 0.5238 NA 0.6014 False NA ,,, NA NA NA 2504 0.4652 NA NA NA NA 0 C 2808,1032 1041,726,153 97 104 102 1860 2 1 8 dbSNP_100 102 4557,3707 1263,2031,838 no coding-synonymous XPO7 NM_015024.4 2304,2757,991 CC,CG,GG 44.8572,26.875,39.1523 620/1088 21846586 7365,4739 1920 4132 6052 SO:0001819 synonymous_variant AF064729 CCDS47818.1 8p21 2011-04-13 2003-03-11 2003-03-14 ENSG00000130227 ENSG00000130227 23039 Exportins 14108 protein-coding gene gene with protein product 606140 RAN binding protein 16 RANBP16 NA 11024021, 9872452 Standard NM_015024 NM_015024 NA Approved KIAA0745 uc003xaa.4 Q9UIA9 OTTHUMG00000163789 ENST00000252512.9:c.1860G>C chr8.hg19:g.21846586G>C NA O94846|Q6PJK9|Q8NEK7 hg19 CCDS47818.1 0.02 11.184533 CCTxTCC COVERED NOVEL XPO7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000375494.1 0 20.165653 KEEP 0 0 0 67 2387 GG 1 1 0 + 8 60 306 0 0 18.948025 249 60 9562 392 ENST00000252512.9 0.031128 1 XPO7 23039 __UNKNOWN__ __UNKNOWN__ 8 21862551 21862551 __UNKNOWN__ Silent SNP A A G rs1058486 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:21862551A>G ENST00000252512.9 + 28 3316 c.3216A>G c.(3214-3216)tcA>tcG p.S1072S XPO7_ENST00000433566.4_Silent_p.S1073S|XPO7_ENST00000434536.1_Silent_p.S1081S NM_015024.4 NP_055839.3 Q9UIA9 XPO7_HUMAN exportin 7 1072 NA mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611) cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634) nuclear export signal receptor activity (GO:0005049) autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724) TCAACGACTCAATGAAGAATT 0.522 NA G||| 2894 0.577875 0.7632 0.4352 5008 , , NA 19393 0.5268 NA 0.5994 False NA ,,, NA NA NA 2504 0.4591 NA NA NA NA 0 G 2957,1095 1097,763,166 150 151 151 3216 -1.1 1 8 dbSNP_86 151 4638,3738 1290,2058,840 no coding-synonymous XPO7 NM_015024.4 2387,2821,1006 GG,GA,AA 44.6275,27.0237,38.888 1072/1088 21862551 7595,4833 2026 4188 6214 SO:0001819 synonymous_variant AF064729 CCDS47818.1 8p21 2011-04-13 2003-03-11 2003-03-14 ENSG00000130227 ENSG00000130227 23039 Exportins 14108 protein-coding gene gene with protein product 606140 RAN binding protein 16 RANBP16 NA 11024021, 9872452 Standard NM_015024 NM_015024 NA Approved KIAA0745 uc003xaa.4 Q9UIA9 OTTHUMG00000163789 ENST00000252512.9:c.3216A>G chr8.hg19:g.21862551A>G NA O94846|Q6PJK9|Q8NEK7 hg19 CCDS47818.1 0.02 18.296514 CTCxATG COVERED NOVEL XPO7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000375494.1 1 22.333234 KEEP 0 2 65 97 2982 AA 1 1 0 + 16 60 558 0 0 33.011657 463 60 16824 718 ENST00000252512.9 0.033403 1 XPO7 23039 __UNKNOWN__ __UNKNOWN__ 8 21863290 21863290 __UNKNOWN__ 3'UTR SNP G G A rs7220 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:21863290G>A ENST00000252512.9 + 0 4055 XPO7_ENST00000433566.4_3'UTR|XPO7_ENST00000434536.1_3'UTR NM_015024.4 NP_055839.3 Q9UIA9 XPO7_HUMAN exportin 7 NA NA mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611) cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634) nuclear export signal receptor activity (GO:0005049) autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724) CTTGGACCGTGTAGATTCTGC 0.473 NA A||| 2840 0.567093 0.7564 0.4323 5008 , , NA 19326 0.5218 NA 0.5924 False NA ,,, NA NA NA 2504 0.4274 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF064729 CCDS47818.1 8p21 2011-04-13 2003-03-11 2003-03-14 ENSG00000130227 ENSG00000130227 23039 Exportins 14108 protein-coding gene gene with protein product 606140 RAN binding protein 16 RANBP16 NA 11024021, 9872452 Standard NM_015024 NM_015024 NA Approved KIAA0745 uc003xaa.4 Q9UIA9 OTTHUMG00000163789 ENST00000252512.9:c.*691G>A chr8.hg19:g.21863290G>A NA O94846|Q6PJK9|Q8NEK7 hg19 CCDS47818.1 0.02 8.929849 CGTxTAG COVERED NOVEL XPO7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000375494.1 2 12.641094 KEEP 0 0 0 42 1503 GG 1 1 0 + 17 60 630 0 0 45.160466 202 60 7524 311 ENST00000252512.9 0.077626 1 FAM160B2 64760 __UNKNOWN__ __UNKNOWN__ 8 21947214 21947214 __UNKNOWN__ Intron SNP A A C rs73223800 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:21947214A>C ENST00000289921.7 + 1 91 NM_022749.5 NP_073586.5 Q86V87 F16B2_HUMAN family with sequence similarity 160, member B2 NA NA endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1) 9 GCTCCACCCCACCGCCTCGCC 0.687 NA A||| 790 0.157748 0.1135 0.2176 5008 , , NA 11250 0.0317 NA 0.2594 False NA ,,, NA NA NA 2504 0.2004 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK025454 CCDS6021.2 8p21.3 2012-11-30 2008-06-05 2008-06-05 ENSG00000158863 ENSG00000158863 64760 16492 protein-coding gene gene with protein product retinoic acid induced 16 RAI16 NA 22971576, 15626329 Standard XR_247128 NA Approved FLJ21801 uc011kyx.2 Q86V87 OTTHUMG00000097088 ENST00000289921.7:c.45+405A>C chr8.hg19:g.21947214A>C NA B2RDQ5|B3KNX1|Q2M211|Q71JB5|Q7L3J6|Q969T0|Q9H6W4 hg19 CCDS6021.2 0.02 2.082565 CCCxCCG COVERED NOVEL FAM160B2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000375334.2 2 11.998547 KEEP 0 0 0 40 1164 AA 1 0.996233 0 + 5 60 181 0 0 12.698315 64 60 2205 140 ENST00000289921.7 0.072464 0.996233 PIWIL2 55124 __UNKNOWN__ __UNKNOWN__ 8 22162271 22162271 __UNKNOWN__ Intron SNP T T G rs75282394 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:22162271T>G ENST00000454009.2 + 12 1879 PIWIL2_ENST00000521356.1_Intron|PIWIL2_ENST00000356766.6_Intron NM_001135721.1 NP_001129193.1 Q8TC59 PIWL2_HUMAN piwi-like RNA-mediated gene silencing 2 NA NA DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283) chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844) mRNA binding (GO:0003729)|piRNA binding (GO:0034584) NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 46 Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707) CTTCTGAAATTTTTTCCTGCC 0.428 NA T||| 91 0.0181709 0.0015 0.0159 5008 , , NA 18717 0.0169 NA 0.0338 False NA ,,, NA NA NA 2504 0.0276 NA NA NA NA 0 T , 22,4384 24.3+/-50.5 0,22,2181 73 70 71 , -4.7 0 8 dbSNP_132 71 218,8382 78.6+/-141.3 3,212,4085 no intron,intron PIWIL2 NM_001135721.1,NM_018068.3 , 3,234,6266 GG,GT,TT 2.5349,0.4993,1.8453 , , 22162271 240,12766 2203 4300 6503 SO:0001627 intron_variant AK001213 CCDS6029.1 8p24 2013-02-15 2013-02-15 ENSG00000197181 ENSG00000197181 55124 Argonaute/PIWI family 17644 protein-coding gene gene with protein product Hiwi-like, cancer/testis antigen 80 610312 piwi-like 2 (Drosophila) NA 11279525, 12906857 Standard NM_018068 NA Approved HILI, FLJ10351, Mili, CT80 uc003xbn.2 Q8TC59 OTTHUMG00000097767 ENST00000454009.2:c.1371-26T>G chr8.hg19:g.22162271T>G NA A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28 hg19 CCDS6029.1 0.02 15.55092 AATxTTT COVERED NOVEL PIWIL2-003 PUTATIVE alternative_5_UTR|basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000375438.1 1 15.044542 KEEP 0 0 0 50 1563 TT 1 1 0 + 12 60 441 0 0 26.832147 359 60 13036 518 ENST00000454009.2 0.032345 1 SLC39A14 23516 __UNKNOWN__ __UNKNOWN__ 8 22277911 22277911 __UNKNOWN__ 3'UTR SNP C C T rs17060854 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:22277911C>T ENST00000359741.5 + 0 2354 SLC39A14_ENST00000240095.6_Intron|SLC39A14_ENST00000381237.1_3'UTR NM_015359.4 NP_056174.2 Q15043 S39AE_HUMAN solute carrier family 39 (zinc transporter), member 14 NA NA cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)|zinc ion transmembrane import (GO:0071578)|zinc ion transmembrane transport (GO:0071577) cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) ferrous iron transmembrane transporter activity (GO:0015093)|zinc ion transmembrane transporter activity (GO:0005385) NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1) 12 Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731) CACGGCTGTCCGAGTGAGCTA 0.507 NA C||| 741 0.147963 0.447 0.0605 5008 , , NA 21282 0.0933 NA 0.003 False NA ,,, NA NA NA 2504 0.0112 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D31887 CCDS6030.1, CCDS47822.1, CCDS47823.1 8p21.2 2013-05-22 ENSG00000104635 ENSG00000104635 23516 Solute carriers 20858 protein-coding gene gene with protein product 608736 solute carrier family 39 (metal ion transporter), member 14 NA 12659941 Standard XM_046677 NM_015359 NA Approved KIAA0062, NET34, ZIP14 uc011kzh.2 Q15043 OTTHUMG00000097791 ENST00000359741.5:c.*700C>T chr8.hg19:g.22277911C>T NA A6NH98|B4DIW3|B6EU88|D3DSR4|Q6ZME8|Q96BB3 hg19 CCDS6030.1 0.02 6.371104 GTCxGAG COVERED NOVEL SLC39A14-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000215038.2 2 19.862729 KEEP 0 0 0 66 2258 CC 1 1 0 + 7 60 265 0 0 16.778185 186 60 6401 316 ENST00000359741.5 0.036269 1 C8orf58 541565 __UNKNOWN__ __UNKNOWN__ 8 22460204 22460204 __UNKNOWN__ Intron SNP A A G rs34268501 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:22460204A>G ENST00000289989.5 + 6 1060 C8orf58_ENST00000409586.3_Intron Q8NAV2 CH058_HUMAN chromosome 8 open reading frame 58 NA NA endometrium(1)|lung(1)|ovary(1)|skin(1) 4 Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142) BRCA - Breast invasive adenocarcinoma(99;0.00563)|Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608) GGAGACTGATAAGCCAGGATG 0.572 NA G||| 1784 0.35623 0.3275 0.3458 5008 , , NA 14677 0.2768 NA 0.3499 False NA ,,, NA NA NA 2504 0.4908 NA NA NA NA 0 G ,, 1472,2928 655.2+/-399.9 260,952,988 34 35 35 ,, 2.9 0 8 dbSNP_126 35 2910,5690 655.9+/-401.3 495,1920,1885 no intron,intron,intron C8orf58 NM_001013842.2,NM_001198827.1,NM_173686.2 ,, 755,2872,2873 GG,GA,AA 33.8372,33.4545,33.7077 ,, ,, 22460204 4382,8618 2200 4300 6500 SO:0001627 intron_variant BC012750 CCDS34862.1, CCDS56527.1, CCDS75708.1 8p21.3 2010-08-17 ENSG00000241852 ENSG00000241852 541565 32233 protein-coding gene gene with protein product NA Standard NM_001013842 NM_001013842 NA Approved FLJ34715 uc003xce.3 Q8NAV2 OTTHUMG00000154160 ENST00000289989.5:c.986+48A>G chr8.hg19:g.22460204A>G NA B4DI44 hg19 CCDS34862.1 0.02 19.959308 GATxAGC COVERED NOVEL C8orf58-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000334183.1 7 83.623584 KEEP 0 0 0 278 8354 AA 1 1 0 + 19 60 698 0 0 44.308792 452 60 16128 943 ENST00000289989.5 0.04034 1 TNFRSF10B 8795 __UNKNOWN__ __UNKNOWN__ 8 22900701 22900701 __UNKNOWN__ Missense_Mutation SNP G G A rs1047266 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:22900701G>A ENST00000276431.4 - 2 484 c.200C>T c.(199-201)gCg>gTg p.A67V TNFRSF10B_ENST00000347739.3_Missense_Mutation_p.A67V|TNFRSF10B_ENST00000542226.1_Intron|TNFRSF10B_ENST00000519910.1_5'UTR NM_003842.4|NM_147187.2 NP_003833.4|NP_671716.2 O14763 TR10B_HUMAN tumor necrosis factor receptor superfamily, member 10b 67 NA A -> V (in dbSNP:rs1047266). {ECO:0000269|PubMed:10072170, ECO:0000269|PubMed:9285725, ECO:0000269|PubMed:9325248, ECO:0000269|PubMed:9373179, ECO:0000269|PubMed:9430227, ECO:0000269|Ref.11}. activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to endoplasmic reticulum stress (GO:0034976) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) receptor activity (GO:0004872)|TRAIL binding (GO:0045569) NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1) 15 Prostate(55;0.0421)|Breast(100;0.067) Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703) TTGTGGGGCCGCTCTCTGCTG 0.572 NA G||| 500 0.0998403 0.0038 0.1542 5008 , , NA 18677 0.2867 NA 0.0616 False NA ,,, NA NA NA 2504 0.0378 NA NA NA GBM(94;1064 1342 1839 21060 42553) NA 0 G VAL/ALA,VAL/ALA 79,4327 69.8+/-107.6 0,79,2124 123 103 110 200,200 2.6 0 8 dbSNP_86 110 601,7999 158.9+/-212.3 30,541,3729 yes missense,missense TNFRSF10B NM_003842.4,NM_147187.2 64,64 30,620,5853 AA,AG,GG 6.9884,1.793,5.2284 possibly-damaging,possibly-damaging 67/441,67/412 22900701 680,12326 2203 4300 6503 SO:0001583 missense AF012628 CCDS6035.1, CCDS6036.1 8p22-p21 2006-02-22 ENSG00000120889 ENSG00000120889 8795 Tumor necrosis factor receptor superfamily, CD molecules 11905 protein-coding gene gene with protein product 603612 NA 9285725, 9311998 Standard NM_147187 NM_003842 NA Approved DR5, KILLER, TRICK2A, TRAIL-R2, TRICKB, CD262 uc003xcu.2 O14763 OTTHUMG00000097826 ENST00000276431.4:c.200C>T chr8.hg19:g.22900701G>A ENSP00000276431:p.Ala67Val NA O14720|O15508|O15517|O15531|Q6UXM8|Q7Z360|Q9BVE0 hg19 CCDS6035.1 0.02 7.880732 GCCxCTC COVERED 274 0.12545787545787546 1 0.0020325203252032522 57 0.1574585635359116 166 0.2902097902097902 50 0.06596306068601583 g 11.04 1.521897 0.27211 0.01793 0.069884 ENSG00000120889 ENST00000276431;ENST00000347739 D;D 0.85629 -1.8;-2.01 2.57 2.57 0.30868 . 7739.340000 0.00357 U 0.000023 T 0.00039 0.0001 N 0.11789 0.175 0.45025 P 0.0019559999999999578 D;D 0.89917 1.0;1.0 D;D 0.72625 0.951;0.978 T 0.60717 -0.7208 9 0.02654 T 1 . 8.7945 0.34872 0.0:0.0:1.0:0.0 rs1047266;rs3187298;rs52805544;rs61593150;rs1047266 67;67 O14763;O14763-2 TR10B_HUMAN;. V 67 ENSP00000276431:A67V;ENSP00000317859:A67V ENSP00000276431:A67V A - 2 0 TNFRSF10B 22956646 0.000000 0.05858 0.003000 0.11579 0.002000 0.02628 -0.116000 0.10724 1.744000 0.51775 0.563000 0.77884 GCG NOVEL TNFRSF10B-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000215099.2 2 17.456813 KEEP 0 0 0 58 2053 GG 1 1 0 - 10 60 356 0 0 22.635151 214 60 7661 350 ENST00000276431.4 0.044643 1 RP11-875O11.2 0 __UNKNOWN__ __UNKNOWN__ 8 22940600 22940600 __UNKNOWN__ RNA SNP A A G rs9314259 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:22940600A>G ENST00000501897.1 + 0 2104 NR_038873.1 NA NA NA AGGAGGGGGTAGCCTTTCTGG 0.512 NA G||| 1199 0.239417 0.2337 0.255 5008 , , NA 19243 0.4821 NA 0.0895 False NA ,,, NA NA NA 2504 0.1401 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000501897.1: chr8.hg19:g.22940600A>G NA hg19 0.02 1.763684 GGTxGCC COVERED NOVEL RP11-875O11.2-001 KNOWN basic antisense NA antisense OTTHUMT00000375295.1 1 7.486397 KEEP 0 0 0 25 729 AA 0.999931 0.999838 0 + 4 60 145 0 0 9.228424 90 60 3149 148 ENST00000501897.1 0.042553 0.999907 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 22975012 22975012 __UNKNOWN__ IGR SNP G G C rs11135700 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:22975012G>C NA NA TNFRSF10C (62 upstream) : TNFRSF10D (18088 downstream) NA NA NA CCTTCCTCAGGGTGTCCCCTA 0.577 NA .||| 864 0.172524 0.1014 0.147 5008 , , NA 18346 0.3145 NA 0.0865 False NA ,,, NA NA NA 2504 0.229 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr8.hg19:g.22975012G>C NA hg19 0.02 11.737692 CAGxGTG COVERED NOVEL 0 3 7.25914 KEEP 0 1 34 36 1251 GG 1 1 0 10 60 353 0 0 21.844908 241 60 8720 350 0.039841 1 TNFRSF10D 8793 __UNKNOWN__ __UNKNOWN__ 8 23004629 23004629 __UNKNOWN__ Intron SNP T T C rs3924519 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:23004629T>C ENST00000312584.3 - 4 465 NM_003840.4 NP_003831.2 Q9UBN6 TR10D_HUMAN tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain NA NA apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|signal transduction (GO:0007165) integral component of membrane (GO:0016021) transmembrane signaling receptor activity (GO:0004888) endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 Prostate(55;0.0421)|Breast(100;0.067) Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612) TTCCCTGACATGTCTGTCCAC 0.507 NA .||| 2453 0.489816 0.4281 0.5086 5008 , , NA 16509 0.8343 NA 0.2744 False NA ,,, NA NA NA 2504 0.4264 NA NA NA NA 0 C 1849,2557 379,1091,733 79 71 74 -1.2 0 8 dbSNP_108 74 2372,6228 338,1696,2266 no intron TNFRSF10D NM_003840.3 717,2787,2999 CC,CT,TT 27.5814,41.9655,32.4543 23004629 4221,8785 2203 4300 6503 SO:0001627 intron_variant AF029761 CCDS6038.1 8p21 2006-02-22 ENSG00000173530 ENSG00000173530 8793 Tumor necrosis factor receptor superfamily, CD molecules 11907 protein-coding gene gene with protein product 603614 NA 9382840, 9537512 Standard NM_003840 NA Approved DcR2, TRUNDD, TRAILR4, CD264 uc003xcz.2 Q9UBN6 OTTHUMG00000097845 ENST00000312584.3:c.371-44A>G chr8.hg19:g.23004629T>C NA B2R8W0|Q9Y6Q4 hg19 CCDS6038.1 0.02 1.871848 ACAxGTC COVERED NOVEL TNFRSF10D-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000215135.1 0 4.813121 KEEP 0 0 0 16 479 TT 0.997832 0.984015 0 - 5 60 159 0 0 10.858211 54 60 1893 78 ENST00000312584.3 0.084746 0.986153 TNFRSF10D 8793 __UNKNOWN__ __UNKNOWN__ 8 23021346 23021346 __UNKNOWN__ Missense_Mutation SNP G G A rs11135703 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:23021346G>A ENST00000312584.3 - 1 197 c.103C>T c.(103-105)Ccc>Tcc p.P35S NM_003840.4 NP_003831.2 Q9UBN6 TR10D_HUMAN tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain 35 NA P -> S (in TRAIL-R4-B; dbSNP:rs11135703). {ECO:0000269|PubMed:9430226}. apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|signal transduction (GO:0007165) integral component of membrane (GO:0016021) transmembrane signaling receptor activity (GO:0004888) endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 Prostate(55;0.0421)|Breast(100;0.067) Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612) AGGATCTTGGGGTCCAGGAGC 0.667 NA OREG0018632 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) G||| 1302 0.259984 0.2035 0.33 5008 , , NA 16479 0.5655 NA 0.1133 False NA ,,, NA NA NA 2504 0.1227 NA NA NA NA 0 G SER/PRO 925,3481 329.1+/-300.9 90,745,1368 48 38 41 103 0.4 0 8 dbSNP_120 41 965,7635 196.3+/-241.3 55,855,3390 yes missense TNFRSF10D NM_003840.3 74 145,1600,4758 AA,AG,GG 11.2209,20.9941,14.5318 possibly-damaging 35/387 23021346 1890,11116 2203 4300 6503 SO:0001583 missense AF029761 CCDS6038.1 8p21 2006-02-22 ENSG00000173530 ENSG00000173530 8793 Tumor necrosis factor receptor superfamily, CD molecules 11907 protein-coding gene gene with protein product 603614 NA 9382840, 9537512 Standard NM_003840 NA Approved DcR2, TRUNDD, TRAILR4, CD264 uc003xcz.2 Q9UBN6 OTTHUMG00000097845 ENST00000312584.3:c.103C>T chr8.hg19:g.23021346G>A ENSP00000310263:p.Pro35Ser 760 B2R8W0|Q9Y6Q4 hg19 CCDS6038.1 0.02 29.237082 TGGxGTC COVERED 601 0.2751831501831502 90 0.18292682926829268 103 0.2845303867403315 316 0.5524475524475524 92 0.12137203166226913 G 12.01 1.810184 0.32053 0.209941 0.112209 ENSG00000173530 ENST00000312584 D 0.81908 -1.55 1.3 0.373 0.16178 . 0.837879 0.09789 U 0.755623 T 0.00012 0.0000 L 0.61218 1.895 0.80722 P 0.0 D 0.69078 0.997 P 0.60789 0.879 T 0.35500 -0.9786 9 0.28530 T 0.3 . 3.6311 0.08131 0.2621:0.0:0.7379:0.0 rs11135703;rs58794799 35 Q9UBN6 TR10D_HUMAN S 35 ENSP00000310263:P35S ENSP00000310263:P35S P - 1 0 TNFRSF10D 23077291 0.007000 0.16637 0.001000 0.08648 0.006000 0.05464 0.836000 0.27545 0.110000 0.17919 0.462000 0.41574 CCC NOVEL TNFRSF10D-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000215135.1 6 65.344316 KEEP 0 1 22 225 7857 GG 1 1 0 - 20 60 710 1 0 40.960026 697 60 25782 1171 ENST00000312584.3 0.027894 1 TNFRSF10A 8797 __UNKNOWN__ __UNKNOWN__ 8 23048882 23048882 __UNKNOWN__ 3'UTR SNP G G A rs117512272 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:23048882G>A ENST00000221132.3 - 0 1796 NM_003844.3 NP_003835.3 O00220 TR10A_HUMAN tumor necrosis factor receptor superfamily, member 10a NA NA activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|signal transduction (GO:0007165)|TRAIL-activated apoptotic signaling pathway (GO:0036462) integral component of membrane (GO:0016021) death receptor activity (GO:0005035)|protease binding (GO:0002020)|receptor activity (GO:0004872)|TRAIL binding (GO:0045569)|transcription factor binding (GO:0008134) NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1) 16 Prostate(55;0.0421)|Breast(100;0.14) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646) gtgcagtggtgcaatctcagc 0.468 NA G||| 67 0.0133786 0.0008 0.0187 5008 , , NA 17487 0.0437 NA 0.002 False NA ,,, NA NA NA 2504 0.0072 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U90875 CCDS6039.1 8p21 2006-02-22 ENSG00000104689 ENSG00000104689 8797 Tumor necrosis factor receptor superfamily, CD molecules 11904 protein-coding gene gene with protein product 603611 NA 9311998, 9082980 Standard NM_003844 NM_003844 NA Approved DR4, Apo2, TRAILR-1, CD261 uc003xda.3 O00220 OTTHUMG00000097843 ENST00000221132.3:c.*325C>T chr8.hg19:g.23048882G>A NA A8K5I4|Q53Y72|Q96E62 hg19 CCDS6039.1 0.02 8.261319 GGTxCAA COVERED NOVEL TNFRSF10A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000215133.2 10 13.543333 KEEP 0 0 0 45 1574 GG 1 1 0 - 9 60 331 0 0 20.973015 217 60 8221 316 ENST00000221132.3 0.039823 1 TNFRSF10A 8797 __UNKNOWN__ __UNKNOWN__ 8 23057965 23057965 __UNKNOWN__ Intron SNP G G A rs141031583 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:23057965G>A ENST00000221132.3 - 6 864 NM_003844.3 NP_003835.3 O00220 TR10A_HUMAN tumor necrosis factor receptor superfamily, member 10a NA NA activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|signal transduction (GO:0007165)|TRAIL-activated apoptotic signaling pathway (GO:0036462) integral component of membrane (GO:0016021) death receptor activity (GO:0005035)|protease binding (GO:0002020)|receptor activity (GO:0004872)|TRAIL binding (GO:0045569)|transcription factor binding (GO:0008134) NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1) 16 Prostate(55;0.0421)|Breast(100;0.14) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646) TGTGGGAACAGAAGAAGGCAG 0.592 NA G||| 68 0.0135783 0.0008 0.0187 5008 , , NA 16485 0.0486 NA 0.0 False NA ,,, NA NA NA 2504 0.0051 NA NA NA NA 0 109 114 112 NA NA 8 NA 23057965 692 1591 2283 SO:0001627 intron_variant U90875 CCDS6039.1 8p21 2006-02-22 ENSG00000104689 ENSG00000104689 8797 Tumor necrosis factor receptor superfamily, CD molecules 11904 protein-coding gene gene with protein product 603611 NA 9311998, 9082980 Standard NM_003844 NM_003844 NA Approved DR4, Apo2, TRAILR-1, CD261 uc003xda.3 O00220 OTTHUMG00000097843 ENST00000221132.3:c.799+52C>T chr8.hg19:g.23057965G>A NA A8K5I4|Q53Y72|Q96E62 hg19 CCDS6039.1 0.02 4.483986 ACAxAAG COVERED NOVEL TNFRSF10A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000215133.2 0 5.417338 KEEP 0 0 0 18 618 GG 0.999859 0.999855 0 - 8 60 286 0 0 19.872713 105 60 3952 137 ENST00000221132.3 0.070796 0.999995 CHMP7 91782 __UNKNOWN__ __UNKNOWN__ 8 23116392 23116392 __UNKNOWN__ Intron SNP G G A rs4581063 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:23116392G>A ENST00000397677.1 + 8 1707 CHMP7_ENST00000313219.7_Intron|CHMP7_ENST00000520102.1_Intron NM_152272.3 NP_689485.1 Q8WUX9 CHMP7_HUMAN charged multivesicular body protein 7 NA NA endosomal transport (GO:0016197)|late endosome to vacuole transport (GO:0045324)|membrane organization (GO:0061024)|viral life cycle (GO:0019058)|viral process (GO:0016032) cytosol (GO:0005829)|ESCRT III complex (GO:0000815) protein transporter activity (GO:0008565) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 11 Prostate(55;0.0513) Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632) GGTGACAGAGGACAGATTTGA 0.502 NA G||| 478 0.0954473 0.0053 0.1412 5008 , , NA 17744 0.1845 NA 0.1223 False NA ,,, NA NA NA 2504 0.0654 NA NA NA NA 0 G 120,4286 85.8+/-124.5 2,116,2085 37 34 35 -1.3 0 8 dbSNP_111 35 990,7610 205.8+/-248.1 63,864,3373 no intron CHMP7 NM_152272.3 65,980,5458 AA,AG,GG 11.5116,2.7236,8.5345 23116392 1110,11896 2203 4300 6503 SO:0001627 intron_variant BC019110 CCDS6040.1 8p21.2 2011-09-21 2011-09-21 ENSG00000147457 ENSG00000147457 91782 Charged multivesicular body proteins 28439 protein-coding gene gene with protein product 611130 CHMP family, member 7 NA 16856878 Standard NM_152272 NM_152272 NA Approved MGC29816 uc003xdc.2 Q8WUX9 OTTHUMG00000131785 ENST00000397677.1:c.1059+49G>A chr8.hg19:g.23116392G>A NA B2RDT3|B4DKJ6|D3DSS1|Q8NDM1|Q9BT50 hg19 CCDS6040.1 0.02 1.755918 GAGxACA COVERED NOVEL CHMP7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254717.1 2 2.708891 KEEP 0 0 0 9 323 GG 0.99254 0.99246 0 + 5 60 176 0 0 11.509728 89 60 3187 106 ENST00000397677.1 0.053191 0.999919 CHMP7 91782 __UNKNOWN__ __UNKNOWN__ 8 23118162 23118162 __UNKNOWN__ 3'UTR SNP G G C rs2294124 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:23118162G>C ENST00000397677.1 + 0 2060 CHMP7_ENST00000313219.7_3'UTR NM_152272.3 NP_689485.1 Q8WUX9 CHMP7_HUMAN charged multivesicular body protein 7 NA NA endosomal transport (GO:0016197)|late endosome to vacuole transport (GO:0045324)|membrane organization (GO:0061024)|viral life cycle (GO:0019058)|viral process (GO:0016032) cytosol (GO:0005829)|ESCRT III complex (GO:0000815) protein transporter activity (GO:0008565) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 11 Prostate(55;0.0513) Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632) GGCTTGCTGGGTGTGTACATA 0.418 NA G||| 568 0.113419 0.0832 0.1066 5008 , , NA 20172 0.2927 NA 0.0089 False NA ,,, NA NA NA 2504 0.0818 NA NA NA NA 0 G 273,4133 145.4+/-180.2 8,257,1938 52 49 50 5.2 0.9 8 dbSNP_100 50 112,8488 55.2+/-116.2 2,108,4190 no utr-3 CHMP7 NM_152272.3 10,365,6128 CC,CG,GG 1.3023,6.1961,2.9602 23118162 385,12621 2203 4300 6503 SO:0001624 3_prime_UTR_variant BC019110 CCDS6040.1 8p21.2 2011-09-21 2011-09-21 ENSG00000147457 ENSG00000147457 91782 Charged multivesicular body proteins 28439 protein-coding gene gene with protein product 611130 CHMP family, member 7 NA 16856878 Standard NM_152272 NM_152272 NA Approved MGC29816 uc003xdc.2 Q8WUX9 OTTHUMG00000131785 ENST00000397677.1:c.*50G>C chr8.hg19:g.23118162G>C NA B2RDT3|B4DKJ6|D3DSS1|Q8NDM1|Q9BT50 hg19 CCDS6040.1 0.02 26.269695 TGGxTGT COVERED NOVEL CHMP7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254717.1 6 24.078031 KEEP 0 0 0 80 2858 GG 1 1 0 + 24 60 887 0 0 55.595305 624 60 23166 884 ENST00000397677.1 0.037037 1 CHMP7 91782 __UNKNOWN__ __UNKNOWN__ 8 23118304 23118304 __UNKNOWN__ 3'UTR SNP C C T rs72609908 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:23118304C>T ENST00000397677.1 + 0 2202 CHMP7_ENST00000313219.7_3'UTR NM_152272.3 NP_689485.1 Q8WUX9 CHMP7_HUMAN charged multivesicular body protein 7 NA NA endosomal transport (GO:0016197)|late endosome to vacuole transport (GO:0045324)|membrane organization (GO:0061024)|viral life cycle (GO:0019058)|viral process (GO:0016032) cytosol (GO:0005829)|ESCRT III complex (GO:0000815) protein transporter activity (GO:0008565) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 11 Prostate(55;0.0513) Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632) GGCTTGCTCCCAGCTGTATCA 0.453 NA C||| 554 0.110623 0.0809 0.0908 5008 , , NA 19209 0.2927 NA 0.0089 False NA ,,, NA NA NA 2504 0.0818 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC019110 CCDS6040.1 8p21.2 2011-09-21 2011-09-21 ENSG00000147457 ENSG00000147457 91782 Charged multivesicular body proteins 28439 protein-coding gene gene with protein product 611130 CHMP family, member 7 NA 16856878 Standard NM_152272 NM_152272 NA Approved MGC29816 uc003xdc.2 Q8WUX9 OTTHUMG00000131785 ENST00000397677.1:c.*192C>T chr8.hg19:g.23118304C>T NA B2RDT3|B4DKJ6|D3DSS1|Q8NDM1|Q9BT50 hg19 CCDS6040.1 0.02 9.064691 TCCxAGC COVERED NOVEL CHMP7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254717.1 2 5.116709 KEEP 0 0 0 17 605 CC 0.999366 0.999366 0 + 12 60 446 0 0 30.229017 203 60 7567 260 ENST00000397677.1 0.055814 1 LOXL2 4017 __UNKNOWN__ __UNKNOWN__ 8 23226014 23226014 __UNKNOWN__ Intron SNP C C T rs6999447 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:23226014C>T ENST00000389131.3 - 2 287 NM_002318.2 NP_002309.1 Q9Y4K0 LOXL2_HUMAN lysyl oxidase-like 2 NA NA aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351) basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634) chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714) breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(55;0.0453)|Breast(100;0.143) Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096) AGAGAACCAGCGATTTCATAC 0.557 NA C||| 1829 0.365216 0.2663 0.4366 5008 , , NA 18374 0.5526 NA 0.336 False NA ,,, NA NA NA 2504 0.2853 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U89942 CCDS34864.1 8p21.3 2008-05-15 ENSG00000134013 4017 6666 protein-coding gene gene with protein product 606663 NA 9722957 Standard NM_002318 NA Approved WS9-14 uc003xdh.1 Q9Y4K0 ENST00000389131.3:c.83-67G>A chr8.hg19:g.23226014C>T NA B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8 hg19 CCDS34864.1 0.02 1.855918 CAGxGAT COVERED NOVEL LOXL2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000375603.1 0 7.456218 KEEP 0 1 32 36 1199 CC 1 0.999919 0 - 4 60 151 0 0 9.811307 91 60 2981 157 ENST00000389131.3 0.042105 0.999919 ENTPD4 9583 __UNKNOWN__ __UNKNOWN__ 8 23287043 23287043 __UNKNOWN__ 3'UTR SNP T T C rs12545040 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:23287043T>C ENST00000358689.4 - 0 5482 ENTPD4_ENST00000521321.1_Intron|ENTPD4_ENST00000356206.6_Intron NM_001128930.2|NM_004901.4 NP_001122402.1|NP_004892.1 Q9Y227 ENTP4_HUMAN ectonucleoside triphosphate diphosphohydrolase 4 NA NA UDP catabolic process (GO:0006256) cytoplasmic vesicle (GO:0031410)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231) uridine-diphosphatase activity (GO:0045134) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 25 Prostate(55;0.114) Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649) AAAGCTGATTTTTTTCTTAAA 0.323 NA T||| 788 0.157348 0.1619 0.2147 5008 , , NA 19535 0.2708 NA 0.0596 False NA ,,, NA NA NA 2504 0.0941 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ131358 CCDS6041.1, CCDS47827.1 8p21.3 2014-05-16 2004-09-22 2004-09-22 ENSG00000197217 ENSG00000197217 9583 14573 protein-coding gene gene with protein product 607577 lysosomal apyrase-like 1 LYSAL1 NA 10393803, 9205841 Standard NM_004901 NM_001128930 NA Approved LALP70, LAP70, KIAA0392, NTPDase-4, UDPase uc003xdl.3 Q9Y227 OTTHUMG00000097852 ENST00000358689.4:c.*3396A>G chr8.hg19:g.23287043T>C NA D3DSS3|O15092 hg19 CCDS6041.1 0.02 10.019391 ATTxTTT COVERED NOVEL ENTPD4-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000215142.1 4 10.53088 KEEP 0 0 0 35 1127 TT 0.999999 0.999999 0 - 13 60 506 0 0 35.361464 207 60 7500 320 ENST00000358689.4 0.059091 1 ENTPD4 9583 __UNKNOWN__ __UNKNOWN__ 8 23289039 23289039 __UNKNOWN__ 3'UTR SNP T T C rs17089242 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:23289039T>C ENST00000358689.4 - 0 3486 ENTPD4_ENST00000521321.1_Intron|ENTPD4_ENST00000356206.6_Intron NM_001128930.2|NM_004901.4 NP_001122402.1|NP_004892.1 Q9Y227 ENTP4_HUMAN ectonucleoside triphosphate diphosphohydrolase 4 NA NA UDP catabolic process (GO:0006256) cytoplasmic vesicle (GO:0031410)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231) uridine-diphosphatase activity (GO:0045134) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 25 Prostate(55;0.114) Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649) AATTTTTTCCTTCAAAATGTG 0.368 NA T||| 789 0.157548 0.1626 0.2147 5008 , , NA 19492 0.2708 NA 0.0596 False NA ,,, NA NA NA 2504 0.0941 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ131358 CCDS6041.1, CCDS47827.1 8p21.3 2014-05-16 2004-09-22 2004-09-22 ENSG00000197217 ENSG00000197217 9583 14573 protein-coding gene gene with protein product 607577 lysosomal apyrase-like 1 LYSAL1 NA 10393803, 9205841 Standard NM_004901 NM_001128930 NA Approved LALP70, LAP70, KIAA0392, NTPDase-4, UDPase uc003xdl.3 Q9Y227 OTTHUMG00000097852 ENST00000358689.4:c.*1400A>G chr8.hg19:g.23289039T>C NA D3DSS3|O15092 hg19 CCDS6041.1 0.02 7.22918 TCCxTCA COVERED NOVEL ENTPD4-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000215142.1 1 12.338261 KEEP 0 0 0 41 1344 TT 1 1 0 - 10 60 387 0 0 27.459322 142 60 5178 237 ENST00000358689.4 0.065789 1 ENTPD4 9583 __UNKNOWN__ __UNKNOWN__ 8 23294761 23294761 __UNKNOWN__ Missense_Mutation SNP T T C rs2272641 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:23294761T>C ENST00000417069.2 - 10 1271 c.1036A>G c.(1036-1038)Aaa>Gaa p.K346E ENTPD4_ENST00000356206.6_Missense_Mutation_p.K346E|ENTPD4_ENST00000358689.4_Missense_Mutation_p.K354E Q9Y227 ENTP4_HUMAN ectonucleoside triphosphate diphosphohydrolase 4 354 NA UDP catabolic process (GO:0006256) cytoplasmic vesicle (GO:0031410)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231) uridine-diphosphatase activity (GO:0045134) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 25 Prostate(55;0.114) Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649) CCAGTCTGTTTACCCAGGAGC 0.448 NA T||| 780 0.155751 0.1558 0.2147 5008 , , NA 19915 0.2708 NA 0.0596 False NA ,,, NA NA NA 2504 0.0941 NA NA NA NA 0 T GLU/LYS,GLU/LYS 635,3771 270.7+/-269.8 41,553,1609 74 63 67 1036,1060 4.4 1 8 dbSNP_100 67 487,8113 140.8+/-197.2 9,469,3822 yes missense,missense ENTPD4 NM_001128930.2,NM_004901.4 56,56 50,1022,5431 CC,CT,TT 5.6628,14.4122,8.6268 benign,benign 346/609,354/617 23294761 1122,11884 2203 4300 6503 SO:0001583 missense AJ131358 CCDS6041.1, CCDS47827.1 8p21.3 2014-05-16 2004-09-22 2004-09-22 ENSG00000197217 ENSG00000197217 9583 14573 protein-coding gene gene with protein product 607577 lysosomal apyrase-like 1 LYSAL1 NA 10393803, 9205841 Standard NM_004901 NM_001128930 NA Approved LALP70, LAP70, KIAA0392, NTPDase-4, UDPase uc003xdl.3 Q9Y227 OTTHUMG00000097852 ENST00000417069.2:c.1036A>G chr8.hg19:g.23294761T>C ENSP00000408573:p.Lys346Glu NA D3DSS3|O15092 hg19 CCDS47827.1 0.02 2.289525 GTTxACC COVERED 386 0.17673992673992675 96 0.1951219512195122 78 0.2154696132596685 169 0.29545454545454547 43 0.05672823218997362 T 11.90 1.777817 0.31502 0.144122 0.056628 ENSG00000197217 ENST00000356206;ENST00000358689;ENST00000417069 T;T;T 0.14766 2.48;2.5;2.49 5.57 4.39 0.52855 . 0.188777 0.56097 D 0.000029 T 0.00012 0.0000 N 0.20483 0.58 0.27727 P 0.9449281 B;B;B 0.09022 0.002;0.0;0.001 B;B;B 0.13407 0.007;0.001;0.009 T 0.41805 -0.9488 9 0.07325 T 0.83 -10.1231 11.6906 0.51514 0.0:0.0:0.1485:0.8515 rs2272641;rs58788167;rs2272641 346;346;354 Q8NE73;Q9Y227-2;Q9Y227 .;.;ENTP4_HUMAN E 346;354;346 ENSP00000348536:K346E;ENSP00000351520:K354E;ENSP00000408573:K346E ENSP00000348536:K346E K - 1 0 ENTPD4 23350706 0.993000 0.37304 0.995000 0.50966 0.834000 0.47266 1.617000 0.36943 0.923000 0.37045 0.260000 0.18958 AAA NOVEL ENTPD4-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000375475.1 0 4.21206 KEEP 0 0 0 14 433 TT 0.995343 0.995206 0 - 5 60 193 0 0 13.278259 86 60 2922 122 ENST00000417069.2 0.054945 0.999862 SLC25A37 51312 __UNKNOWN__ __UNKNOWN__ 8 23429329 23429329 __UNKNOWN__ Silent SNP T T C rs1047384 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:23429329T>C ENST00000519973.1 + 4 1176 c.978T>C c.(976-978)ttT>ttC p.F326F NM_016612.2 NP_057696.2 Q9NYZ2 MFRN1_HUMAN solute carrier family 25 (mitochondrial iron transporter), member 37 326 NA iron ion homeostasis (GO:0055072)|mitochondrial iron ion transport (GO:0048250)|small molecule metabolic process (GO:0044281) integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743) iron ion transmembrane transporter activity (GO:0005381) NS(1)|endometrium(3)|large_intestine(2)|lung(8)|urinary_tract(1) 15 Prostate(55;0.114) Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751) TCAAGTACTTTCTCACCAAGC 0.512 NA C||| 659 0.131589 0.1717 0.1643 5008 , , NA 17256 0.2073 NA 0.0368 False NA ,,, NA NA NA 2504 0.0736 NA NA NA NA 0 C 556,3258 29,498,1380 40 40 40 978 4.2 1 8 dbSNP_86 40 295,7955 8,279,3838 no coding-synonymous SLC25A37 NM_016612.2 37,777,5218 CC,CT,TT 3.5758,14.5779,7.054 326/339 23429329 851,11213 1907 4125 6032 SO:0001819 synonymous_variant AF495725 CCDS47828.1 8p21.2 2013-05-22 2012-03-29 ENSG00000147454 ENSG00000147454 51312 Solute carriers 29786 protein-coding gene gene with protein product mitoferrin 610387 solute carrier family 25, member 37 NA 16511496 Standard NM_016612 XM_006716352 NA Approved MSCP, MFRN, MFRN1 uc003xdo.3 Q9NYZ2 OTTHUMG00000163865 ENST00000519973.1:c.978T>C chr8.hg19:g.23429329T>C NA A2RU93|Q53FT7|Q69YJ8|Q969S1|Q9P0J2 hg19 CCDS47828.1 0.02 25.110718 CTTxCTC COVERED NOVEL SLC25A37-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000376039.1 4 65.586543 KEEP 0 0 0 218 6877 TT 1 1 0 + 21 60 770 0 0 47.567968 577 60 20887 1033 ENST00000519973.1 0.035117 1 ADAM28 10863 __UNKNOWN__ __UNKNOWN__ 8 24212040 24212040 __UNKNOWN__ 3'UTR SNP T T C rs1058914 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:24212040T>C ENST00000265769.4 + 0 2561 RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA NM_014265.4 NP_055080.2 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 NA NA spermatogenesis (GO:0007283) extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270) central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) AGGTTAACATTTTCTGATTCA 0.328 NA T||| 1079 0.215455 0.0998 0.1354 5008 , , NA 16782 0.4772 NA 0.16 False NA ,,, NA NA NA 2504 0.2157 NA NA NA NSCLC(193;488 2149 22258 34798 40734) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ242015 CCDS34865.1, CCDS47830.1 8p21.2 2005-11-29 2005-08-18 ENSG00000042980 ENSG00000042980 10863 ADAM metallopeptidase domain containing 206 protein-coding gene gene with protein product 606188 a disintegrin and metalloproteinase domain 28 NA Standard NM_021778 XM_005273378 NA Approved eMDCII, MDC-Lm, MDC-Ls, ADAM23 uc003xdy.3 Q9UKQ2 OTTHUMG00000163780 ENST00000265769.4:c.*123T>C chr8.hg19:g.24212040T>C NA B2RMV5|Q9Y339|Q9Y3S0 hg19 CCDS34865.1 0.02 28.951853 CATxTTC COVERED NOVEL ADAM28-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000375441.2 5 19.25954 KEEP 0 0 0 64 2073 TT 1 1 0 + 34 60 1306 0 0 90.010299 570 70 20535 785 ENST00000265769.4 0.056291 1 ADAMDEC1 27299 __UNKNOWN__ __UNKNOWN__ 8 24241973 24241973 __UNKNOWN__ 5'UTR SNP G G C rs10087305 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:24241973G>C ENST00000256412.4 + 0 176 RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000538205.1_5'UTR|RP11-624C23.1_ENST00000518988.1_RNA NM_014479.3 NP_055294.1 O15204 ADEC1_HUMAN ADAM-like, decysin 1 NA NA immune response (GO:0006955)|negative regulation of cell adhesion (GO:0007162) extracellular region (GO:0005576) metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270) NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1) 9 Prostate(55;0.0181) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168) CTTCTAAAGAGAAATTGGAGA 0.443 NA G||| 996 0.198882 0.1589 0.1254 5008 , , NA 18692 0.3978 NA 0.1203 False NA ,,, NA NA NA 2504 0.181 NA NA NA Ovarian(147;687 1849 3699 25981 31337) NA 0 G ,, 676,3730 47,582,1574 40 35 36 ,, 1.7 0 8 dbSNP_119 36 1030,7568 61,908,3330 no utr-5,utr-5,utr-5 ADAMDEC1 NM_001145271.1,NM_001145272.1,NM_014479.3 ,, 108,1490,4904 CC,CG,GG 11.9795,15.3427,13.119 ,, ,, 24241973 1706,11298 2203 4299 6502 SO:0001623 5_prime_UTR_variant Y13323 CCDS6044.1, CCDS55212.1 8p12 2008-08-07 ENSG00000134028 ENSG00000134028 27299 16299 protein-coding gene gene with protein product 606393 NA 9271581, 12037602 Standard NM_014479 NM_001145271 NA Approved M12.219 uc003xdz.2 O15204 OTTHUMG00000097858 ENST00000256412.4:c.-45G>C chr8.hg19:g.24241973G>C NA B7ZAK5 hg19 CCDS6044.1 0.02 24.979469 AGAxAAA COVERED NOVEL ADAMDEC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000215149.2 2 20.165837 KEEP 0 0 0 67 2413 GG 1 1 0 + 14 60 543 0 0 32.592171 543 60 20653 763 ENST00000256412.4 0.025135 1 ADAMDEC1 27299 __UNKNOWN__ __UNKNOWN__ 8 24256579 24256579 __UNKNOWN__ Intron SNP G G T rs2291578 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:24256579G>T ENST00000256412.4 + 9 1149 ADAMDEC1_ENST00000522298.1_Intron|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000538205.1_Intron NM_014479.3 NP_055294.1 O15204 ADEC1_HUMAN ADAM-like, decysin 1 NA NA immune response (GO:0006955)|negative regulation of cell adhesion (GO:0007162) extracellular region (GO:0005576) metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270) NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1) 9 Prostate(55;0.0181) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168) CCAGGTGAATGTAGGCAGAAT 0.478 NA G||| 815 0.16274 0.0242 0.1225 5008 , , NA 19510 0.3879 NA 0.1322 False NA ,,, NA NA NA 2504 0.1779 NA NA NA Ovarian(147;687 1849 3699 25981 31337) NA 0 G ,, 181,4225 112.9+/-151.0 5,171,2027 56 50 52 ,, -5.3 0 8 dbSNP_100 52 1063,7537 219.5+/-257.5 70,923,3307 no intron,intron,intron ADAMDEC1 NM_001145271.1,NM_001145272.1,NM_014479.3 ,, 75,1094,5334 TT,TG,GG 12.3605,4.108,9.5648 ,, ,, 24256579 1244,11762 2203 4300 6503 SO:0001627 intron_variant Y13323 CCDS6044.1, CCDS55212.1 8p12 2008-08-07 ENSG00000134028 ENSG00000134028 27299 16299 protein-coding gene gene with protein product 606393 NA 9271581, 12037602 Standard NM_014479 NM_001145271 NA Approved M12.219 uc003xdz.2 O15204 OTTHUMG00000097858 ENST00000256412.4:c.929+26G>T chr8.hg19:g.24256579G>T NA B7ZAK5 hg19 CCDS6044.1 0.02 6.440075 AATxTAG COVERED NOVEL ADAMDEC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000215149.2 1 7.523908 KEEP 0 0 0 25 856 GG 0.999931 0.999931 0 + 8 60 291 0 0 19.335718 143 60 5284 186 ENST00000256412.4 0.05298 1 DOCK5 80005 __UNKNOWN__ __UNKNOWN__ 8 25269102 25269102 __UNKNOWN__ 3'UTR SNP C C A rs1506869 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:25269102C>A ENST00000276440.7 + 0 5945 NM_024940.6 NP_079216.4 Q9H7D0 DOCK5_HUMAN dedicator of cytokinesis 5 NA NA positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264) cytoplasm (GO:0005737) guanyl-nucleotide exchange factor activity (GO:0005085) NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143) UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828) TCAGCCTGTACGGCAGAGACA 0.468 NA C||| 1095 0.21865 0.0106 0.219 5008 , , NA 19307 0.5446 NA 0.2614 False NA ,,, NA NA NA 2504 0.1196 NA NA NA Pancreas(145;34 1887 3271 10937 30165) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS6047.1 8p21.2 2009-04-17 ENSG00000147459 ENSG00000147459 80005 23476 protein-coding gene gene with protein product NA 12432077 Standard NM_024940 NM_024940 NA Approved FLJ21034 uc003xeg.3 Q9H7D0 OTTHUMG00000131991 ENST00000276440.7:c.*288C>A chr8.hg19:g.25269102C>A NA B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6 hg19 CCDS6047.1 0.02 8.446622 GTAxGGC COVERED NOVEL DOCK5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254955.2 1 8.126338 KEEP 0 0 0 27 941 CC 0.999988 0.999988 0 + 10 60 363 0 0 23.026461 230 60 8118 307 ENST00000276440.7 0.041667 1 GNRH1 2796 __UNKNOWN__ __UNKNOWN__ 8 25280800 25280800 __UNKNOWN__ Missense_Mutation SNP C C G rs6185 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:25280800C>G ENST00000276414.4 - 1 1370 c.47G>C c.(46-48)tGg>tCg p.W16S GNRH1_ENST00000421054.2_Missense_Mutation_p.W16S NM_000825.3 NP_000816.4 P01148 GON1_HUMAN gonadotropin-releasing hormone 1 (luteinizing-releasing hormone) 16 NA W -> S (in dbSNP:rs6185). {ECO:0000269|PubMed:10391209, ECO:0000269|PubMed:6090951}. cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron migration (GO:2001223)|ovulation cycle (GO:0042698)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|response to corticosteroid (GO:0031960)|response to ethanol (GO:0045471)|signal transduction (GO:0007165) extracellular region (GO:0005576)|extracellular space (GO:0005615) gonadotropin hormone-releasing hormone activity (GO:0005183)|hormone activity (GO:0005179) large_intestine(1) 1 all_cancers(63;0.0423)|Ovarian(32;0.000626)|all_epithelial(46;0.0186)|Hepatocellular(4;0.114)|Breast(100;0.14)|Prostate(55;0.191) UCEC - Uterine corpus endometrioid carcinoma (27;0.0201)|Epithelial(17;1.25e-12)|Colorectal(74;0.0113)|COAD - Colon adenocarcinoma(73;0.0385) TTCCACGCACCAAGTCAGTAG 0.448 NA C||| 1123 0.224241 0.0552 0.1931 5008 , , NA 17847 0.5476 NA 0.2425 False NA ,,, NA NA NA 2504 0.1227 NA NA NA NA 0 C SER/TRP,SER/TRP 348,3418 14,320,1549 79 78 78 47,47 2.9 0 8 dbSNP_52 78 2064,6144 272,1520,2312 yes missense,missense GNRH1 NM_000825.3,NM_001083111.1 177,177 286,1840,3861 GG,GC,CC 25.1462,9.2406,20.1436 benign,benign 16/93,16/93 25280800 2412,9562 1883 4104 5987 SO:0001583 missense X01059 CCDS43725.1 8p21-p11.2 2013-02-26 2004-10-13 ENSG00000147437 ENSG00000147437 2796 Endogenous ligands 4419 protein-coding gene gene with protein product 152760 gonadotropin-releasing hormone 1 (leutinizing-releasing hormone) GRH, GNRH, LHRH NA 6090951 Standard NM_001083111 NM_000825 NA Approved uc003xem.4 P01148 OTTHUMG00000163852 ENST00000276414.4:c.47G>C chr8.hg19:g.25280800C>G ENSP00000276414:p.Trp16Ser NA A0AVP0 hg19 CCDS43725.1 0.02 16.518772 CACxAAG COVERED 593 0.2715201465201465 20 0.04065040650406504 80 0.22099447513812154 307 0.5367132867132867 186 0.24538258575197888 C 6.004 0.369183 0.11352 0.092406 0.251462 ENSG00000147437 ENST00000421054;ENST00000276414 T;T 0.40476 1.03;1.03 5.29 2.9 0.33743 . 1.973800 0.02558 N 0.096387 T 0.00012 0.0000 . . . 0.80722 P 0.0 B 0.09022 0.002 B 0.06405 0.002 T 0.46261 -0.9204 8 0.51188 T 0.08 -0.0022 4.5292 0.11997 0.6642:0.1675:0.1683:0.0 rs6185;rs3191535;rs6185 16 P01148 GON1_HUMAN S 16 ENSP00000391280:W16S;ENSP00000276414:W16S ENSP00000276414:W16S W - 2 0 GNRH1 25336717 0.022000 0.18835 0.000000 0.03702 0.000000 0.00434 3.083000 0.50136 0.457000 0.26962 -1.092000 0.02172 TGG NOVEL GNRH1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000375982.1 2 16.022209 KEEP 0 2 62 75 2676 CC 1 1 0 - 28 60 1011 0 0 70.833553 359 60 13187 556 ENST00000276414.4 0.072351 1 DPYSL2 1808 __UNKNOWN__ __UNKNOWN__ 8 26441562 26441562 __UNKNOWN__ Intron SNP A A G rs408753 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:26441562A>G ENST00000311151.5 + 3 725 DPYSL2_ENST00000523027.1_Intron|DPYSL2_ENST00000521913.1_Intron NM_001386.5 NP_001377.1 Q16555 DPYL2_HUMAN dihydropyrimidinase-like 2 NA NA axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|olfactory bulb development (GO:0021772)|positive regulation of glutamate secretion (GO:0014049)|pyrimidine nucleobase catabolic process (GO:0006208)|regulation of neuron differentiation (GO:0045664)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|spinal cord development (GO:0021510)|synaptic vesicle transport (GO:0048489) axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|protein complex (GO:0043234) dihydropyrimidinase activity (GO:0004157) breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1) 20 all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183) AAATAAGTCTATTGTTTGATT 0.403 NA G||| 2200 0.439297 0.6475 0.3271 5008 , , NA 21013 0.251 NA 0.328 False NA ,,, NA NA NA 2504 0.546 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D78013 CCDS6051.1, CCDS59096.1 8p22-p21 2011-09-28 ENSG00000092964 ENSG00000092964 1808 3014 protein-coding gene gene with protein product 602463 NA 8973361 Standard NM_001386 NM_001197293 NA Approved DRP-2, DHPRP2, CRMP2, DRP2 uc003xfa.3 Q16555 OTTHUMG00000099439 ENST00000311151.5:c.313+63A>G chr8.hg19:g.26441562A>G NA A8K5H2|B4DR31|D3DSS7|O00424 hg19 CCDS6051.1 0.02 -0.429875 TCTxTTG COVERED NOVEL DPYSL2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000216904.3 0 6.614293 KEEP 0 0 0 22 614 AA 0.999879 0.954375 0 + 3 60 115 0 0 8.030933 46 60 1664 72 ENST00000311151.5 0.061224 0.954491 DPYSL2 1808 __UNKNOWN__ __UNKNOWN__ 8 26509950 26509950 __UNKNOWN__ Missense_Mutation SNP A A G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:26509950A>G ENST00000311151.5 + 12 1871 c.1459A>G c.(1459-1461)Agg>Ggg p.R487G DPYSL2_ENST00000523027.1_Missense_Mutation_p.R451G|DPYSL2_ENST00000521913.1_Missense_Mutation_p.R451G NM_001386.5 NP_001377.1 Q16555 DPYL2_HUMAN dihydropyrimidinase-like 2 487 NA axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|olfactory bulb development (GO:0021772)|positive regulation of glutamate secretion (GO:0014049)|pyrimidine nucleobase catabolic process (GO:0006208)|regulation of neuron differentiation (GO:0045664)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|spinal cord development (GO:0021510)|synaptic vesicle transport (GO:0048489) axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|protein complex (GO:0043234) dihydropyrimidinase activity (GO:0004157) breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1) 20 all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183) GGCAAGGAGCAGGGTGAGTAG 0.443 NA NA NA NA NA NA NA NA NA NA NA 0 80 71 74 NA NA 8 NA 26509950 2203 4300 6503 SO:0001583 missense D78013 CCDS6051.1, CCDS59096.1 8p22-p21 2011-09-28 ENSG00000092964 ENSG00000092964 1808 3014 protein-coding gene gene with protein product 602463 NA 8973361 Standard NM_001386 NM_001197293 NA Approved DRP-2, DHPRP2, CRMP2, DRP2 uc003xfa.3 Q16555 OTTHUMG00000099439 ENST00000311151.5:c.1459A>G chr8.hg19:g.26509950A>G ENSP00000309539:p.Arg487Gly NA A8K5H2|B4DR31|D3DSS7|O00424 hg19 CCDS6051.1 0.02 5.426136 AGCxGGG COVERED . . . . . . . . . . A 16.25 3.070642 0.55539 . . ENSG00000092964 ENST00000545637;ENST00000521913;ENST00000311151;ENST00000522745;ENST00000523027 D;D;D;D 0.85484 -1.99;-1.99;-1.99;-1.99 5.06 0.952 0.19584 Metal-dependent hydrolase, composite domain (1); 0.000000 0.85682 D 0.000000 T 0.77896 0.4199 L 0.47190 1.495 0.80722 D 1 B;B 0.30146 0.1;0.27 B;B 0.20955 0.022;0.032 T 0.74121 -0.3767 10 0.49607 T 0.09 -30.8807 13.0215 0.58791 0.6247:0.3753:0.0:0.0 . 487;543 Q16555;Q59GB4 DPYL2_HUMAN;. G 113;451;487;487;451 ENSP00000427985:R451G;ENSP00000309539:R487G;ENSP00000428909:R487G;ENSP00000431117:R451G ENSP00000309539:R487G R + 1 2 DPYSL2 26565867 1.000000 0.71417 1.000000 0.80357 0.962000 0.63368 3.265000 0.51561 0.443000 0.26582 0.459000 0.35465 AGG NOVEL DPYSL2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000216904.3 1 18.355504 KEEP 0 0 0 61 1905 AA 1 1 0 + 7 60 241 0 0 14.481221 180 60 6707 305 ENST00000311151.5 0.037433 1 ADRA1A 148 __UNKNOWN__ __UNKNOWN__ 8 26614516 26614516 __UNKNOWN__ 3'UTR SNP C C G rs7825488 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:26614516C>G ENST00000519229.1 - 0 1398 ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000380586.1_Intron|ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000380582.3_Intron P25100 ADA1D_HUMAN adrenoceptor alpha 1A NA NA adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) alpha1-adrenergic receptor activity (GO:0004937) breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1) 36 all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115) Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694) ACATTCTGCTCCCTGTGAGAT 0.443 NA C||| 530 0.105831 0.121 0.0605 5008 , , NA 20444 0.2312 NA 0.0288 False NA ,,, NA NA NA 2504 0.0675 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L31774 CCDS6052.1, CCDS6053.1, CCDS6054.1, CCDS34869.1 8p21.2 2012-08-08 2012-05-09 ENSG00000120907 ENSG00000120907 148 GPCR / Class A : Adrenoceptors : alpha 277 protein-coding gene gene with protein product 104221 adrenergic, alpha-1A-, receptor ADRA1C NA Standard NM_033303 NM_033303 NA Approved ADRA1L1 uc003xfh.1 P35348 OTTHUMG00000099459 ENST00000519229.1:c.*108G>C chr8.hg19:g.26614516C>G NA Q9NPY0 hg19 0.02 26.913269 GCTxCCT COVERED NOVEL ADRA1A-009 PUTATIVE not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000376207.1 3 33.686994 KEEP 0 0 0 112 3838 CC 1 1 0 - 26 60 953 0 0 61.073044 583 60 21504 865 ENST00000519229.1 0.042693 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 26943632 26943632 __UNKNOWN__ IGR SNP C C T rs935408 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:26943632C>T NA NA MIR548H4 (37152 upstream) : RP11-521M14.2 (61 downstream) NA NA NA cataaagagtcggaattaaaa 0.403 NA C||| 2420 0.483227 0.5847 0.4654 5008 , , NA 17072 0.5575 NA 0.3191 False NA ,,, NA NA NA 2504 0.4509 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr8.hg19:g.26943632C>T NA hg19 0.02 18.538193 AGTxGGA COVERED NOVEL 0 2 15.595398 KEEP 0 1 11 56 1798 CC 1 1 0 20 60 695 0 0 43.294933 443 60 15660 635 0.043197 1 CHRNA2 1135 __UNKNOWN__ __UNKNOWN__ 8 27328511 27328511 __UNKNOWN__ Missense_Mutation SNP G G A rs2472553 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:27328511G>A ENST00000520933.2 - 1 218 c.65C>T c.(64-66)aCc>aTc p.T22I CHRNA2_ENST00000407991.1_Missense_Mutation_p.T22I|CHRNA2_ENST00000240132.2_Missense_Mutation_p.T22I Q15822 ACHA2_HUMAN cholinergic receptor, nicotinic, alpha 2 (neuronal) 22 NA T -> I (in dbSNP:rs2472553). cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transport (GO:0006811)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268) acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211) acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144) breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 23 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136) Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Mecamylamine(DB00657)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Procaine(DB00721)|Rocuronium(DB00728)|Tubocurarine(DB01199)|Vecuronium(DB01339) ACCTGCTGGGGTCAGAAGGAG 0.542 NA G||| 1107 0.221046 0.1921 0.1945 5008 , , NA 20986 0.4325 NA 0.1372 False NA ,,, NA NA NA 2504 0.1472 NA NA NA NA 0 G ILE/THR 810,3596 322.9+/-297.8 75,660,1468 78 69 72 65 -2.5 0 8 dbSNP_100 72 1125,7475 232.1+/-265.8 78,969,3253 yes missense CHRNA2 NM_000742.3 89 153,1629,4721 AA,AG,GG 13.0814,18.384,14.8777 benign 22/530 27328511 1935,11071 2203 4300 6503 SO:0001583 missense U62431 CCDS6059.1, CCDS64856.1 8p21 2012-02-11 2006-02-01 ENSG00000120903 ENSG00000120903 1135 Cholinergic receptors, Ligand-gated ion channels / Acetylcholine receptors, nicotinic 1956 protein-coding gene gene with protein product acetylcholine receptor, nicotinic, alpha 2 (neuronal) 118502 cholinergic receptor, nicotinic, alpha polypeptide 2 (neuronal) NA 1505988 Standard NM_000742 NA Approved uc010lur.3 Q15822 OTTHUMG00000102083 ENST00000520933.2:c.65C>T chr8.hg19:g.27328511G>A ENSP00000429616:p.Thr22Ile NA A8KAX3|B4DK19|J3KMY9|Q9HAQ3 hg19 CCDS6059.1 0.02 8.047516 GGGxTCA COVERED 550 0.2518315018315018 93 0.18902439024390244 69 0.19060773480662985 291 0.5087412587412588 97 0.1279683377308707 G 0 -2.672280 0.00104 0.18384 0.130814 ENSG00000120903 ENST00000407991;ENST00000520933;ENST00000240132;ENST00000524096;ENST00000518712;ENST00000521921 T;T;T;T;T;T 0.55588 0.51;0.51;0.51;0.51;0.51;0.51 4.42 -2.5 0.06384 . 3.327300 0.00649 N 0.000552 T 0.00012 0.0000 N 0.08118 0 0.80722 P 0.0 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.36744 -0.9735 9 0.02654 T 1 . 5.1178 0.14845 0.4675:0.1607:0.3719:0.0 rs2472553;rs57302661;rs2472553 22;22 B4DK19;Q15822 .;ACHA2_HUMAN I 22 ENSP00000385026:T22I;ENSP00000429616:T22I;ENSP00000240132:T22I;ENSP00000430422:T22I;ENSP00000430856:T22I;ENSP00000429953:T22I ENSP00000240132:T22I T - 2 0 CHRNA2 27384428 0.793000 0.28825 0.004000 0.12327 0.072000 0.16883 0.305000 0.19254 -0.388000 0.07797 -0.794000 0.03295 ACC NOVEL CHRNA2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000376125.4 2 17.156115 KEEP 0 0 0 57 2038 GG 1 1 0 - 7 60 253 0 0 14.907753 233 60 8597 385 ENST00000520933.2 0.029167 1 EPHX2 2053 __UNKNOWN__ __UNKNOWN__ 8 27358287 27358287 __UNKNOWN__ Intron SNP C C T rs72474002 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:27358287C>T ENST00000521780.1 + 2 159 EPHX2_ENST00000380476.3_Intron|EPHX2_ENST00000520666.1_Intron|EPHX2_ENST00000517536.1_Intron|EPHX2_ENST00000521400.1_Intron|EPHX2_ENST00000518379.1_Intron NM_001256483.1 NP_001243412.1 P34913 HYES_HUMAN epoxide hydrolase 2, cytoplasmic NA NA arachidonic acid metabolic process (GO:0019369)|cellular calcium ion homeostasis (GO:0006874)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|inflammatory response (GO:0006954)|phospholipid dephosphorylation (GO:0046839)|positive regulation of gene expression (GO:0010628)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|regulation of blood pressure (GO:0008217)|regulation of cholesterol metabolic process (GO:0090181)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|stilbene catabolic process (GO:0046272)|xenobiotic metabolic process (GO:0006805) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777) 10-hydroxy-9-(phosphonooxy)octadecanoate phosphatase activity (GO:0033885)|epoxide hydrolase activity (GO:0004301)|lipid phosphatase activity (GO:0042577)|magnesium ion binding (GO:0000287)|phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxic substance binding (GO:0015643) cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1) 27 Ovarian(32;2.61e-05)|all_epithelial(46;0.207) UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157) GCTCCTTGCGCGCAAAGATCC 0.468 NA C||| 144 0.028754 0.0023 0.0504 5008 , , NA 20007 0.1002 NA 0.001 False NA ,,, NA NA NA 2504 0.0041 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L05779 CCDS6060.1, CCDS59097.1, CCDS59098.1 8p21 2010-04-23 ENSG00000120915 ENSG00000120915 2053 3.3.2.10 3402 protein-coding gene gene with protein product 132811 NA Standard NM_001979 NA Approved uc003xfu.4 P34913 OTTHUMG00000102115 ENST00000521780.1:c.-12-2834C>T chr8.hg19:g.27358287C>T NA B2Z3B1|B3KTU8|B3KUA0|G3V134|J3KPH7|Q16764|Q9HBJ1|Q9HBJ2 hg19 CCDS59098.1 0.02 3.670853 GCGxGCA COVERED NOVEL EPHX2-008 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000376137.1 0 5.116337 KEEP 0 0 0 17 585 CC 0.999366 0.999366 0 + 10 60 344 0 0 23.2576 139 60 5006 173 ENST00000521780.1 0.067114 1 SCARA5 286133 __UNKNOWN__ __UNKNOWN__ 8 27728042 27728042 __UNKNOWN__ 3'UTR SNP C C T rs2280931 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:27728042C>T ENST00000354914.3 - 0 3382 SCARA5_ENST00000380385.2_3'UTR NM_173833.5 NP_776194.2 Q6ZMJ2 SCAR5_HUMAN scavenger receptor class A, member 5 NA NA cellular iron ion homeostasis (GO:0006879)|cellular response to heat (GO:0034605)|endocytosis (GO:0006897)|iron ion transmembrane transport (GO:0034755)|protein homotrimerization (GO:0070207)|receptor-mediated endocytosis (GO:0006898)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468) cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887) ferritin receptor activity (GO:0070287)|scavenger receptor activity (GO:0005044) central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3) 18 Ovarian(32;0.0218) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228) CAGTGCTCACCTGATATGACA 0.547 NA C||| 778 0.155351 0.0938 0.147 5008 , , NA 19426 0.2044 NA 0.164 False NA ,,, NA NA NA 2504 0.1851 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK172746 CCDS6064.1 8p21.1 2014-07-08 2014-07-08 ENSG00000168079 ENSG00000168079 286133 28701 protein-coding gene gene with protein product 611306 scavenger receptor class A, member 5 (putative) NA 19154717 Standard NM_173833 NM_173833 NA Approved FLJ23907, MGC45780, NET33 uc003xgj.3 Q6ZMJ2 OTTHUMG00000132172 ENST00000354914.3:c.*1409G>A chr8.hg19:g.27728042C>T NA Q6UXZ1|Q7Z4A1|Q8N4Z7 hg19 CCDS6064.1 0.02 8.918686 CACxTGA COVERED NOVEL SCARA5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255223.2 0 9.028793 KEEP 0 0 0 30 1044 CC 0.999997 0.999997 0 - 8 60 305 0 0 19.045823 235 60 8824 322 ENST00000354914.3 0.032922 1 NUGGC 389643 __UNKNOWN__ __UNKNOWN__ 8 27930737 27930737 __UNKNOWN__ Intron SNP T T C rs7000334 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:27930737T>C ENST00000413272.2 - 2 186 NUGGC_ENST00000341513.6_Intron NM_001010906.1 NP_001010906.1 Q68CJ6 SLIP_HUMAN nuclear GTPase, germinal center associated NA NA cellular response to DNA damage stimulus (GO:0006974)|somatic hypermutation of immunoglobulin genes (GO:0016446) nucleus (GO:0005634) GTP binding (GO:0005525)|GTPase activity (GO:0003924) NA gctgtgttgcttaggctggtc 0.478 NA OREG0018676 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) C||| 1334 0.266374 0.289 0.1686 5008 , , NA 15220 0.3869 NA 0.1193 False NA ,,, NA NA NA 2504 0.3323 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB075870 CCDS47833.1 8p21.1 2012-06-07 2012-06-07 2012-06-07 ENSG00000189233 ENSG00000189233 389643 33550 protein-coding gene gene with protein product speckled-like pattern in the germinal center chromosome 8 open reading frame 80 C8orf80 NA 19734146 Standard NM_001010906 NM_001010906 NA Approved HMFN0672, SLIP-GC uc003xgm.4 Q68CJ6 OTTHUMG00000155970 ENST00000413272.2:c.43+1147A>G chr8.hg19:g.27930737T>C 798 Q6ZP73 hg19 CCDS47833.1 0.02 -0.052639 TGCxTAG UNCOVERED NOVEL NUGGC-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000342494.1 3 3.611211 KEEP 0 0 0 12 384 TT 0.993634 0.036532 0 - 2 60 71 0 0 6.395612 4 60 149 22 ENST00000413272.2 0.333333 0.036766 ELP3 55140 __UNKNOWN__ __UNKNOWN__ 8 27950670 27950670 __UNKNOWN__ 5'UTR SNP C C T rs2305451 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:27950670C>T ENST00000256398.8 + 0 316 ELP3_ENST00000542181.1_5'UTR|ELP3_ENST00000521015.1_Intron|ELP3_ENST00000523760.1_3'UTR|ELP3_ENST00000524103.1_5'UTR NM_001284220.1|NM_001284226.1|NM_018091.5 NP_001271149.1|NP_001271155.1|NP_060561.3 Q9H9T3 ELP3_HUMAN elongator acetyltransferase complex subunit 3 NA NA chromatin organization (GO:0006325)|positive regulation of cell migration (GO:0030335)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368) cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023) histone acetyltransferase activity (GO:0004402)|iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|phosphorylase kinase regulator activity (GO:0008607) kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Ovarian(32;0.0218) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183) GTCAGCTTTCCCCGTGGTCTG 0.547 NA C||| 1272 0.253994 0.0998 0.3184 5008 , , NA 13158 0.253 NA 0.339 False NA ,,, NA NA NA 2504 0.3303 NA NA NA NA 0 C 187,1197 13,161,518 59 49 52 0.5 0 8 dbSNP_100 52 1000,2182 159,682,750 no utr-5 ELP3 NM_018091.5 172,843,1268 TT,TC,CC 31.4268,13.5116,25.9965 27950670 1187,3379 692 1591 2283 SO:0001623 5_prime_UTR_variant CCDS6065.1, CCDS64860.1, CCDS64861.1, CCDS75717.1, CCDS75718.1 8p21.1 2012-08-14 2012-08-08 ENSG00000134014 ENSG00000134014 55140 Chromatin-modifying enzymes / K-acetyltransferases, Elongator acetyltransferase complex subunits 20696 protein-coding gene gene with protein product 612722 elongation protein 3 homolog (S. cerevisiae) NA 11714725 Standard NM_018091 NM_018091 NA Approved FLJ10422, KAT9 uc003xgo.4 Q9H9T3 OTTHUMG00000102124 ENST00000256398.8:c.-62C>T chr8.hg19:g.27950670C>T NA B4DE19|B4DIG1|E2QRI5|Q53G84|Q6AWB0|Q9BVF7|Q9NVZ1 hg19 CCDS6065.1 0.02 24.294538 TTCxCCG COVERED NOVEL ELP3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000219963.2 3 55.088799 KEEP 0 4 131 229 7853 CC 1 1 0 + 22 60 780 0 0 47.213223 600 60 21605 1169 ENST00000256398.8 0.03537 1 ELP3 55140 __UNKNOWN__ __UNKNOWN__ 8 27957313 27957313 __UNKNOWN__ Intron SNP A A G rs2290371 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:27957313A>G ENST00000256398.8 + 3 496 ELP3_ENST00000380353.4_Intron|ELP3_ENST00000542181.1_Intron|ELP3_ENST00000521015.1_Intron|ELP3_ENST00000523760.1_Intron|ELP3_ENST00000524103.1_Intron|ELP3_ENST00000537665.1_Intron NM_001284220.1|NM_001284226.1|NM_018091.5 NP_001271149.1|NP_001271155.1|NP_060561.3 Q9H9T3 ELP3_HUMAN elongator acetyltransferase complex subunit 3 NA NA chromatin organization (GO:0006325)|positive regulation of cell migration (GO:0030335)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368) cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023) histone acetyltransferase activity (GO:0004402)|iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|phosphorylase kinase regulator activity (GO:0008607) kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Ovarian(32;0.0218) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183) AAATAACCGTAATCTTGATAA 0.433 NA A||| 1353 0.270168 0.1596 0.3228 5008 , , NA 21738 0.251 NA 0.339 False NA ,,, NA NA NA 2504 0.3313 NA NA NA NA 0 A 848,3558 333.9+/-303.2 85,678,1440 74 71 72 2 0.2 8 dbSNP_100 72 2763,5837 439.1+/-359.1 418,1927,1955 no intron ELP3 NM_018091.5 503,2605,3395 GG,GA,AA 32.1279,19.2465,27.7641 27957313 3611,9395 2203 4300 6503 SO:0001627 intron_variant CCDS6065.1, CCDS64860.1, CCDS64861.1, CCDS75717.1, CCDS75718.1 8p21.1 2012-08-14 2012-08-08 ENSG00000134014 ENSG00000134014 55140 Chromatin-modifying enzymes / K-acetyltransferases, Elongator acetyltransferase complex subunits 20696 protein-coding gene gene with protein product 612722 elongation protein 3 homolog (S. cerevisiae) NA 11714725 Standard NM_018091 NM_018091 NA Approved FLJ10422, KAT9 uc003xgo.4 Q9H9T3 OTTHUMG00000102124 ENST00000256398.8:c.120-32A>G chr8.hg19:g.27957313A>G NA B4DE19|B4DIG1|E2QRI5|Q53G84|Q6AWB0|Q9BVF7|Q9NVZ1 hg19 CCDS6065.1 0.02 23.991706 CGTxATC COVERED NOVEL ELP3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000219963.2 1 27.077918 KEEP 0 0 0 90 2754 AA 1 1 0 + 18 60 691 0 0 43.527185 516 60 18276 765 ENST00000256398.8 0.033708 1 ELP3 55140 __UNKNOWN__ __UNKNOWN__ 8 27967856 27967856 __UNKNOWN__ Intron SNP A A G rs3213997 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:27967856A>G ENST00000256398.8 + 6 770 ELP3_ENST00000380353.4_Intron|ELP3_ENST00000542181.1_Intron|ELP3_ENST00000521015.1_Intron|ELP3_ENST00000523760.1_Intron|ELP3_ENST00000524103.1_Intron|ELP3_ENST00000537665.1_Intron NM_001284220.1|NM_001284226.1|NM_018091.5 NP_001271149.1|NP_001271155.1|NP_060561.3 Q9H9T3 ELP3_HUMAN elongator acetyltransferase complex subunit 3 NA NA chromatin organization (GO:0006325)|positive regulation of cell migration (GO:0030335)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368) cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023) histone acetyltransferase activity (GO:0004402)|iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|phosphorylase kinase regulator activity (GO:0008607) kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Ovarian(32;0.0218) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183) TTTTAATTCAATGTGGGCATA 0.383 NA A||| 3192 0.63738 0.6127 0.6614 5008 , , NA 18224 0.8919 NA 0.4682 False NA ,,, NA NA NA 2504 0.5654 NA NA NA NA 0 A 2559,1847 632.7+/-395.9 735,1089,379 94 90 91 -1.5 0 8 dbSNP_106 91 3879,4721 543.0+/-384.3 874,2131,1295 no intron ELP3 NM_018091.5 1609,3220,1674 GG,GA,AA 45.1047,41.9201,49.5002 27967856 6438,6568 2203 4300 6503 SO:0001627 intron_variant CCDS6065.1, CCDS64860.1, CCDS64861.1, CCDS75717.1, CCDS75718.1 8p21.1 2012-08-14 2012-08-08 ENSG00000134014 ENSG00000134014 55140 Chromatin-modifying enzymes / K-acetyltransferases, Elongator acetyltransferase complex subunits 20696 protein-coding gene gene with protein product 612722 elongation protein 3 homolog (S. cerevisiae) NA 11714725 Standard NM_018091 NM_018091 NA Approved FLJ10422, KAT9 uc003xgo.4 Q9H9T3 OTTHUMG00000102124 ENST00000256398.8:c.394-31A>G chr8.hg19:g.27967856A>G NA B4DE19|B4DIG1|E2QRI5|Q53G84|Q6AWB0|Q9BVF7|Q9NVZ1 hg19 CCDS6065.1 0.02 11.133099 TCAxTGT COVERED NOVEL ELP3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000219963.2 1 14.27932 KEEP 0 1 36 60 1948 AA 1 1 0 + 12 60 458 0 0 29.704496 285 60 10426 452 ENST00000256398.8 0.040404 1 ELP3 55140 __UNKNOWN__ __UNKNOWN__ 8 28013579 28013579 __UNKNOWN__ Intron SNP A A C rs4732832 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:28013579A>C ENST00000256398.8 + 11 1568 ELP3_ENST00000380353.4_Intron|ELP3_ENST00000542181.1_Intron|ELP3_ENST00000521015.1_Intron|ELP3_ENST00000524103.1_Intron|ELP3_ENST00000537665.1_Intron NM_001284220.1|NM_001284226.1|NM_018091.5 NP_001271149.1|NP_001271155.1|NP_060561.3 Q9H9T3 ELP3_HUMAN elongator acetyltransferase complex subunit 3 NA NA chromatin organization (GO:0006325)|positive regulation of cell migration (GO:0030335)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368) cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023) histone acetyltransferase activity (GO:0004402)|iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|phosphorylase kinase regulator activity (GO:0008607) kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Ovarian(32;0.0218) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183) TCAGGCCACAACTGTTGAGAA 0.468 NA A||| 3242 0.647364 0.593 0.67 5008 , , NA 17297 0.9028 NA 0.504 False NA ,,, NA NA NA 2504 0.589 NA NA NA NA 0 A 2581,1825 628.2+/-395.1 746,1089,368 42 39 40 -2.2 0 8 dbSNP_111 40 4142,4458 553.1+/-386.2 1021,2100,1179 no intron ELP3 NM_018091.5 1767,3189,1547 CC,CA,AA 48.1628,41.4208,48.3085 28013579 6723,6283 2203 4300 6503 SO:0001627 intron_variant CCDS6065.1, CCDS64860.1, CCDS64861.1, CCDS75717.1, CCDS75718.1 8p21.1 2012-08-14 2012-08-08 ENSG00000134014 ENSG00000134014 55140 Chromatin-modifying enzymes / K-acetyltransferases, Elongator acetyltransferase complex subunits 20696 protein-coding gene gene with protein product 612722 elongation protein 3 homolog (S. cerevisiae) NA 11714725 Standard NM_018091 NM_018091 NA Approved FLJ10422, KAT9 uc003xgo.4 Q9H9T3 OTTHUMG00000102124 ENST00000256398.8:c.1191+30A>C chr8.hg19:g.28013579A>C NA B4DE19|B4DIG1|E2QRI5|Q53G84|Q6AWB0|Q9BVF7|Q9NVZ1 hg19 CCDS6065.1 0.02 13.772681 ACAxCTG COVERED NOVEL ELP3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000219963.2 1 11.970221 KEEP 0 1 35 52 1642 AA 1 1 0 + 18 60 648 0 0 43.474784 296 60 10638 462 ENST00000256398.8 0.057325 1 ELP3 55140 __UNKNOWN__ __UNKNOWN__ 8 28040712 28040712 __UNKNOWN__ Intron SNP G G A rs59148819 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:28040712G>A ENST00000256398.8 + 15 1944 ELP3_ENST00000380353.4_Intron|ELP3_ENST00000542181.1_Intron|ELP3_ENST00000521015.1_Intron|ELP3_ENST00000524103.1_Intron|ELP3_ENST00000537665.1_Intron NM_001284220.1|NM_001284226.1|NM_018091.5 NP_001271149.1|NP_001271155.1|NP_060561.3 Q9H9T3 ELP3_HUMAN elongator acetyltransferase complex subunit 3 NA NA chromatin organization (GO:0006325)|positive regulation of cell migration (GO:0030335)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368) cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023) histone acetyltransferase activity (GO:0004402)|iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|phosphorylase kinase regulator activity (GO:0008607) kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Ovarian(32;0.0218) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183) TCCCCAAAGGGGTGGATGTCC 0.423 NA G||| 626 0.125 0.0076 0.1441 5008 , , NA 19172 0.1964 NA 0.1412 False NA ,,, NA NA NA 2504 0.18 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS6065.1, CCDS64860.1, CCDS64861.1, CCDS75717.1, CCDS75718.1 8p21.1 2012-08-14 2012-08-08 ENSG00000134014 ENSG00000134014 55140 Chromatin-modifying enzymes / K-acetyltransferases, Elongator acetyltransferase complex subunits 20696 protein-coding gene gene with protein product 612722 elongation protein 3 homolog (S. cerevisiae) NA 11714725 Standard NM_018091 NM_018091 NA Approved FLJ10422, KAT9 uc003xgo.4 Q9H9T3 OTTHUMG00000102124 ENST00000256398.8:c.1568-6454G>A chr8.hg19:g.28040712G>A NA B4DE19|B4DIG1|E2QRI5|Q53G84|Q6AWB0|Q9BVF7|Q9NVZ1 hg19 CCDS6065.1 0.02 26.088707 AGGxGTG COVERED NOVEL ELP3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000219963.2 6 26.78765 KEEP 0 0 0 89 3175 GG 1 1 0 + 17 60 591 0 0 33.603008 595 60 21768 846 ENST00000256398.8 0.027778 1 ZNF395 55893 __UNKNOWN__ __UNKNOWN__ 8 28204264 28204264 __UNKNOWN__ 3'UTR SNP G G A rs351779 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:28204264G>A ENST00000344423.5 - 0 3645 NM_018660.2 NP_061130.1 Q9H8N7 ZN395_HUMAN zinc finger protein 395 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142) GTTCCCATGTGTCAAGAACGT 0.587 NA G||| 1385 0.276558 0.143 0.2968 5008 , , NA 14356 0.1925 NA 0.5099 False NA ,,, NA NA NA 2504 0.2894 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB044750 CCDS6067.1 8p21 2008-05-02 ENSG00000186918 ENSG00000186918 55893 Zinc fingers, C2H2-type 18737 protein-coding gene gene with protein product 609494 NA 14625278 Standard NM_018660 NA Approved PRF-1, HDBP2, PBF, DKFZp434K1210 uc003xgr.3 Q9H8N7 OTTHUMG00000102137 ENST00000344423.5:c.*1972C>T chr8.hg19:g.28204264G>A NA B3KUY7|D3DST4|Q6F6H2|Q9BY72|Q9NPB2|Q9NS57|Q9NS58|Q9NS59 hg19 CCDS6067.1 0.02 8.35428 TGTxTCA COVERED NOVEL ZNF395-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000219976.1 2 16.01963 KEEP 0 2 56 73 2551 GG 1 1 0 - 10 60 330 0 0 20.443666 195 60 7251 342 ENST00000344423.5 0.04878 1 KIF13B 23303 __UNKNOWN__ __UNKNOWN__ 8 28966870 28966870 __UNKNOWN__ Intron SNP C C T rs2291450 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:28966870C>T ENST00000524189.1 - 34 4200 NM_015254.3 NP_056069.2 Q9NQT8 KI13B_HUMAN kinesin family member 13B NA NA metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110) axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874) 14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901) endometrium(6)|kidney(1)|lung(20)|urinary_tract(1) 28 Ovarian(32;0.000536) KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181) TGGGGTTTGACGGGTGGAGAA 0.557 NA C||| 912 0.182109 0.146 0.2997 5008 , , NA 19320 0.2401 NA 0.0785 False NA ,,, NA NA NA 2504 0.1943 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB014539 CCDS55217.1 8p21 2008-07-30 ENSG00000197892 23303 Kinesins 14405 protein-coding gene gene with protein product 607350 NA 9734811, 10859302, 16864656 Standard NM_015254 NA Approved GAKIN, KIAA0639 uc003xhh.4 Q9NQT8 ENST00000524189.1:c.4161+80G>A chr8.hg19:g.28966870C>T NA B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6 hg19 CCDS55217.1 0.02 4.070634 TGAxGGG COVERED NOVEL KIF13B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000376878.1 0 4.213484 KEEP 0 0 0 14 472 CC 0.995343 0.995343 0 - 7 60 240 0 0 15.610958 119 60 4351 149 ENST00000524189.1 0.055556 1 KIF13B 23303 __UNKNOWN__ __UNKNOWN__ 8 28981063 28981063 __UNKNOWN__ Intron SNP T T G rs3750263 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:28981063T>G ENST00000524189.1 - 28 3391 CTD-2647L4.1_ENST00000523661.1_RNA NM_015254.3 NP_056069.2 Q9NQT8 KI13B_HUMAN kinesin family member 13B NA NA metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110) axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874) 14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901) endometrium(6)|kidney(1)|lung(20)|urinary_tract(1) 28 Ovarian(32;0.000536) KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181) CCATTTATCTTTTTGTCCTGA 0.413 NA T||| 1076 0.214856 0.1467 0.3545 5008 , , NA 22026 0.2599 NA 0.1441 False NA ,,, NA NA NA 2504 0.2342 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB014539 CCDS55217.1 8p21 2008-07-30 ENSG00000197892 23303 Kinesins 14405 protein-coding gene gene with protein product 607350 NA 9734811, 10859302, 16864656 Standard NM_015254 NA Approved GAKIN, KIAA0639 uc003xhh.4 Q9NQT8 ENST00000524189.1:c.3353-54A>C chr8.hg19:g.28981063T>G NA B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6 hg19 CCDS55217.1 0.02 6.945921 TCTxTTT COVERED NOVEL KIF13B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000376878.1 0 9.32957 KEEP 0 0 0 31 1026 TT 0.999997 0.999997 0 - 10 60 382 0 0 26.38236 163 60 5864 243 ENST00000524189.1 0.057803 1 KIF13B 23303 __UNKNOWN__ __UNKNOWN__ 8 28989789 28989789 __UNKNOWN__ Intron SNP T T C rs9644054 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:28989789T>C ENST00000524189.1 - 23 2981 CTD-2647L4.1_ENST00000523661.1_RNA NM_015254.3 NP_056069.2 Q9NQT8 KI13B_HUMAN kinesin family member 13B NA NA metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110) axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874) 14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901) endometrium(6)|kidney(1)|lung(20)|urinary_tract(1) 28 Ovarian(32;0.000536) KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181) aaaTTACATATATATAAATGG 0.453 NA T||| 823 0.164337 0.062 0.3473 5008 , , NA 16423 0.1657 NA 0.1501 False NA ,,, NA NA NA 2504 0.1861 NA NA NA NA 0 T 258,3344 10,238,1553 35 39 38 0.9 0 8 dbSNP_119 38 1278,6872 97,1084,2894 no intron KIF13B NM_015254.3 107,1322,4447 CC,CT,TT 15.681,7.1627,13.0701 28989789 1536,10216 1801 4075 5876 SO:0001627 intron_variant AB014539 CCDS55217.1 8p21 2008-07-30 ENSG00000197892 23303 Kinesins 14405 protein-coding gene gene with protein product 607350 NA 9734811, 10859302, 16864656 Standard NM_015254 NA Approved GAKIN, KIAA0639 uc003xhh.4 Q9NQT8 ENST00000524189.1:c.2942+35A>G chr8.hg19:g.28989789T>C NA B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6 hg19 CCDS55217.1 0.02 -0.377202 ATAxATA COVERED NOVEL KIF13B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000376878.1 1 5.714146 KEEP 0 0 0 19 548 TT 0.999863 0.908944 0 - 3 60 107 0 0 7.407619 40 60 1390 70 ENST00000524189.1 0.069767 0.909069 KIF13B 23303 __UNKNOWN__ __UNKNOWN__ 8 29005143 29005143 __UNKNOWN__ Intron SNP A A G rs6986829 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:29005143A>G ENST00000524189.1 - 17 1852 KIF13B_ENST00000521515.1_Intron NM_015254.3 NP_056069.2 Q9NQT8 KI13B_HUMAN kinesin family member 13B NA NA metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110) axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874) 14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901) endometrium(6)|kidney(1)|lung(20)|urinary_tract(1) 28 Ovarian(32;0.000536) KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181) TAAAAAAGATACATGATCGAG 0.338 NA A||| 1182 0.236022 0.2678 0.3718 5008 , , NA 21642 0.2341 NA 0.1491 False NA ,,, NA NA NA 2504 0.1881 NA NA NA NA 0 A 866,2892 114,638,1127 60 53 55 1.5 0 8 dbSNP_116 55 1305,6893 98,1109,2892 no intron KIF13B NM_015254.3 212,1747,4019 GG,GA,AA 15.9185,23.0442,18.1582 29005143 2171,9785 1879 4099 5978 SO:0001627 intron_variant AB014539 CCDS55217.1 8p21 2008-07-30 ENSG00000197892 23303 Kinesins 14405 protein-coding gene gene with protein product 607350 NA 9734811, 10859302, 16864656 Standard NM_015254 NA Approved GAKIN, KIAA0639 uc003xhh.4 Q9NQT8 ENST00000524189.1:c.1814-24T>C chr8.hg19:g.29005143A>G NA B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6 hg19 CCDS55217.1 0.02 7.123928 GATxCAT COVERED NOVEL KIF13B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000376878.1 1 8.121967 KEEP 0 0 0 27 775 AA 0.999988 0.999988 0 - 8 60 306 0 0 20.560192 155 60 5475 222 ENST00000524189.1 0.04908 1 DCTN6 10671 __UNKNOWN__ __UNKNOWN__ 8 30040534 30040534 __UNKNOWN__ Intron SNP T T C rs56302321 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:30040534T>C ENST00000221114.3 + 7 561 NM_006571.3 NP_006562.1 O00399 DCTN6_HUMAN dynactin 6 NA NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|mitotic spindle organization (GO:0007052) centrosome (GO:0005813)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|kinetochore (GO:0000776) endometrium(1)|lung(1)|ovary(1)|prostate(1) 4 KIRC - Kidney renal clear cell carcinoma(542;0.099)|Kidney(114;0.119) ctggTTGCTGTGTGGTACTCT 0.483 NA C||| 1314 0.26238 0.289 0.2421 5008 , , NA 18090 0.4812 NA 0.0964 False NA ,,, NA NA NA 2504 0.1861 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D84145 CCDS6076.1 8p12-p11 2003-03-20 ENSG00000104671 ENSG00000104671 10671 16964 protein-coding gene gene with protein product 612963 NA 9168138 Standard NM_006571 NM_006571 NA Approved WS-3 uc003xhy.3 O00399 OTTHUMG00000163828 ENST00000221114.3:c.475-57T>C chr8.hg19:g.30040534T>C NA B2RAC1 hg19 CCDS6076.1 0.02 1.681495 CTGxGTG COVERED NOVEL DCTN6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000375815.2 4 20.460928 KEEP 0 0 0 68 2130 TT 1 0.999881 0 + 5 60 177 0 0 11.654724 87 60 3070 211 ENST00000221114.3 0.054348 0.999881 RBPMS 11030 __UNKNOWN__ __UNKNOWN__ 8 30242076 30242076 __UNKNOWN__ 5'UTR SNP T T C rs113142693 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:30242076T>C ENST00000339877.4 + 0 50 RBPMS-AS1_ENST00000519753.1_RNA|RBPMS_ENST00000287771.5_5'UTR|RBPMS_ENST00000320203.4_5'UTR|RBPMS_ENST00000538486.1_5'UTR|RBPMS-AS1_ENST00000517521.1_RNA|RBPMS-AS1_ENST00000523643.1_RNA|RBPMS_ENST00000397323.4_5'UTR NM_001008712.1 NP_001008712.1 Q93062 RBPMS_HUMAN RNA binding protein with multiple splicing NA NA positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713) autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 13 KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172) CTGGAGCGCGTACTCAGCGGC 0.701 NA t||| 1444 0.288339 0.3578 0.2695 5008 , , NA 8403 0.3304 NA 0.2465 False NA ,,, NA NA NA 2504 0.2076 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant D84110 CCDS6077.1, CCDS34875.1, CCDS34876.1 8p12 2013-06-07 ENSG00000157110 ENSG00000157110 11030 RNA binding motif (RRM) containing 19097 protein-coding gene gene with protein product 601558 NA 8855282 Standard NM_001008710 NA Approved HERMES uc003xib.3 Q93062 OTTHUMG00000163845 ENST00000339877.4:c.-533T>C chr8.hg19:g.30242076T>C NA D3DSU9|Q92516|Q92517|Q92518|Q96J26 hg19 CCDS34876.1 0.02 6.674892 GCGxACT COVERED NOVEL RBPMS-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000376356.1 2 30.401263 KEEP 0 1 5 103 2971 TT 1 1 0 + 6 60 225 0 0 14.099861 164 60 5309 369 ENST00000339877.4 0.035294 1 WRN 7486 __UNKNOWN__ __UNKNOWN__ 8 31024654 31024654 __UNKNOWN__ Missense_Mutation SNP T T C rs1346044 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:31024654T>C ENST00000298139.5 + 34 4348 c.4099T>C c.(4099-4101)Tgt>Cgt p.C1367R RP11-363L24.3_ENST00000521252.1_RNA NM_000553.4 NP_000544.2 Q14191 WRN_HUMAN Werner syndrome, RecQ helicase-like 1367 NA C -> R (polymorphism associated with a higher risk of myocardial infarction; dbSNP:rs1346044). {ECO:0000269|PubMed:10069711, ECO:0000269|PubMed:11161804, ECO:0000269|PubMed:9021029, ECO:0000269|Ref.4}. aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723) centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654) 3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403) central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3) 60 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) TCAACCTTCATGTGATGTCAA 0.403 NA Mis, N, F, S osteosarcoma, meningioma, others Genes defective in diseases associated with sensitivity to DNA damaging agents Werner syndrome T||| 965 0.192692 0.1475 0.1729 5008 , , NA 17332 0.1042 NA 0.2664 False NA ,,, NA NA NA 2504 0.2832 NA NA NA Ovarian(18;161 598 2706 14834 27543) yes Rec Werner Syndrome 8 8p12-p11.2 7486 Werner syndrome (RECQL2) L, E, M, O 0 GRCh37 CM971591 WRN M rs1346044 T ARG/CYS 757,3649 308.8+/-290.8 69,619,1515 120 105 110 4099 2.5 0.1 8 dbSNP_88 110 2200,6400 374.4+/-337.4 301,1598,2401 yes missense WRN NM_000553.4 180 370,2217,3916 CC,CT,TT 25.5814,17.1811,22.7357 possibly-damaging 1367/1433 31024654 2957,10049 2203 4300 6503 SO:0001583 missense Familial Cancer Database WS, Adult Progeria CCDS6082.1 8p12 2014-09-17 2009-03-19 ENSG00000165392 ENSG00000165392 7486 12791 protein-coding gene gene with protein product 604611 Werner syndrome NA 9288107 Standard NM_000553 NA Approved RECQL2, RECQ3 uc003xio.4 Q14191 OTTHUMG00000163894 ENST00000298139.5:c.4099T>C chr8.hg19:g.31024654T>C ENSP00000298139:p.Cys1367Arg NA A1KYY9 hg19 CCDS6082.1 0.02 17.874939 TCAxGTG COVERED 400 0.18315018315018314 81 0.16463414634146342 64 0.17679558011049723 56 0.0979020979020979 199 0.262532981530343 T 8.055 0.766747 0.15983 0.171811 0.255814 ENSG00000165392 ENST00000298139 T 0.44083 0.93 4.86 2.45 0.29901 . 0.692798 0.13759 N 0.364736 T 0.00012 0.0000 M 0.70595 2.14 0.27730 P 0.9448488 P 0.41265 0.744 B 0.39068 0.289 T 0.09487 -1.0672 9 0.48119 T 0.1 -0.0497 5.6058 0.17379 0.0:0.1646:0.1451:0.6903 rs1346044;rs2230015;rs17652782;rs17847579;rs52814593;rs58743977;rs1346044 1367 Q14191 WRN_HUMAN R 1367 ENSP00000298139:C1367R ENSP00000298139:C1367R C + 1 0 WRN 31144196 0.589000 0.26807 0.090000 0.20809 0.295000 0.27426 0.579000 0.23788 0.406000 0.25560 0.533000 0.62120 TGT NOVEL WRN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000376248.1 2 23.470381 KEEP 0 0 0 78 2449 TT 1 1 0 + 17 60 558 0 0 32.610364 452 60 16914 684 ENST00000298139.5 0.036247 1 NRG1 3084 __UNKNOWN__ __UNKNOWN__ 8 32453358 32453358 __UNKNOWN__ Missense_Mutation SNP G G A rs3924999 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:32453358G>A ENST00000287842.3 + 2 573 c.113G>A c.(112-114)cGa>cAa p.R38Q NRG1_ENST00000287845.5_Missense_Mutation_p.R38Q|NRG1_ENST00000341377.5_Missense_Mutation_p.R38Q|NRG1_ENST00000405005.3_Missense_Mutation_p.R38Q|NRG1_ENST00000523079.1_Missense_Mutation_p.R38Q|NRG1_ENST00000338921.4_Missense_Mutation_p.R38Q|NRG1_ENST00000356819.4_Missense_Mutation_p.R38Q|NRG1_ENST00000519301.1_Missense_Mutation_p.R17Q|NRG1_ENST00000521670.1_Missense_Mutation_p.R38Q|NRG1_ENST00000520407.1_Missense_Mutation_p.R253Q NM_001160004.1|NM_013957.3 NP_001153476.1|NP_039251.2 Q02297 NRG1_HUMAN neuregulin 1 38 Ig-like C2-type. NA R -> Q (in dbSNP:rs3924999). {ECO:0000269|PubMed:17565985}. activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060) apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634) cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1) 39 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) TTGCCTCCCCGATTGAAAGAG 0.423 NA G||| 1929 0.385184 0.0666 0.3746 5008 , , NA 15194 0.7589 NA 0.3767 False NA ,,, NA NA NA 2504 0.4468 NA NA NA NA 0 GRCh37 CM054795 NRG1 M rs3924999 G GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG 586,3820 255.5+/-260.7 40,506,1657 75 83 80 http://www.ncbi.nlm.nih.gov/sites/varvu?gene 50,50,50,113,113,113,113,113,113,113,113,113,113,758,113 5.7 1 8 dbSNP_108 80 3404,5196 501.7+/-375.5 655,2094,1551 yes missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense NRG1 NM_001159995.1,NM_001159999.1,NM_001160001.1,NM_001160002.1,NM_001160004.1,NM_001160005.1,NM_001160007.1,NM_001160008.1,NM_004495.3,NM_013956.3,NM_013957.3,NM_013958.3,NM_013960.3,NM_013962.2,NM_013964.3 43,43,43,43,43,43,43,43,43,43,43,43,43,43,43 695,2600,3208 AA,AG,GG 39.5814,13.3,30.6781 benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign 17/608,17/625,17/591,38/195,38/460,38/208,38/178,38/421,38/212,38/646,38/638,38/242,38/463,253/423,38/641 32453358 3990,9016 2203 4300 6503 SO:0001583 missense L12261 CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1 8p21-p12 2014-06-23 ENSG00000157168 ENSG00000157168 3084 Immunoglobulin superfamily / I-set domain containing 7997 protein-coding gene gene with protein product 142445 NRG1 intronic transcript 2 (non-protein coding) HGL, NRG1-IT2 NA 1350381, 8095334 Standard NM_013962 NA Approved HRG, NDF, GGF uc003xiu.2 Q02297 OTTHUMG00000163918 ENST00000287842.3:c.113G>A chr8.hg19:g.32453358G>A ENSP00000287842:p.Arg38Gln NA A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3 hg19 CCDS6084.1 0.02 4.138853 CCCxATT COVERED 896 0.41025641025641024 45 0.09146341463414634 126 0.34806629834254144 448 0.7832167832167832 277 0.3654353562005277 G 17.68 3.450326 0.63290 0.133 0.395814 ENSG00000157168 ENST00000518104;ENST00000519301;ENST00000520407;ENST00000523534;ENST00000523079;ENST00000338921;ENST00000356819;ENST00000287840;ENST00000287845;ENST00000341377;ENST00000287842;ENST00000405005;ENST00000521670 T;T;T;T;T;T;T;T;T;T;T;T;T 0.40756 1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02 5.65 5.65 0.86999 Immunoglobulin-like (1);Immunoglobulin-like fold (1); 0.370264 0.27266 N 0.020157 T 0.00012 0.0000 L 0.29908 0.895 0.09310 P 0.9999999999999984 B;D;B;P;B;P;B;P;B;B;P;P 0.54397 0.381;0.966;0.251;0.637;0.233;0.58;0.212;0.58;0.212;0.047;0.521;0.698 B;B;B;B;B;B;B;B;B;B;B;B 0.37267 0.081;0.245;0.149;0.188;0.019;0.117;0.048;0.117;0.071;0.022;0.065;0.097 T 0.25012 -1.0144 9 0.51188 T 0.08 . 9.1012 0.36669 0.1236:0.0:0.8764:0.0 rs3924999;rs17665390;rs17845097;rs17857884;rs52817411;rs60068866;rs3924999 38;38;38;37;37;38;38;38;38;38;38;253 E9PHH4;F8W9E3;Q7RTW4;B0FYA9;B0FWZ3;B7Z4Z3;Q02297-7;Q02297;Q02297-6;Q02297-3;Q02297-8;Q02297-9 .;.;.;.;.;.;.;NRG1_HUMAN;.;.;.;. Q 17;17;253;106;38;38;38;38;38;38;38;38;38 ENSP00000430053:R17Q;ENSP00000429582:R17Q;ENSP00000434640:R253Q;ENSP00000429067:R106Q;ENSP00000430120:R38Q;ENSP00000343395:R38Q;ENSP00000349275:R38Q;ENSP00000287840:R38Q;ENSP00000287845:R38Q;ENSP00000340497:R38Q;ENSP00000287842:R38Q;ENSP00000384620:R38Q;ENSP00000428828:R38Q ENSP00000287840:R38Q R + 2 0 NRG1 32572900 1.000000 0.71417 0.998000 0.56505 0.986000 0.74619 3.343000 0.52167 2.826000 0.97356 0.563000 0.77884 CGA NOVEL NRG1-004 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000376467.1 1 3.661915 KEEP 0 2 68 36 1202 GG 1 1 0 + 5 60 184 0 0 11.406814 136 60 4636 226 ENST00000287842.3 0.035461 1 NRG1 3084 __UNKNOWN__ __UNKNOWN__ 8 32621844 32621844 __UNKNOWN__ Missense_Mutation SNP G G T rs75155858 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:32621844G>T ENST00000287842.3 + 12 2298 c.1838G>T c.(1837-1839)gGc>gTc p.G613V NRG1_ENST00000287845.5_Missense_Mutation_p.G587V|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000405005.3_Missense_Mutation_p.G616V|NRG1_ENST00000338921.4_Missense_Mutation_p.G624V|NRG1_ENST00000356819.4_Missense_Mutation_p.G621V|NRG1_ENST00000539990.1_Missense_Mutation_p.G459V|NRG1_ENST00000519301.1_Missense_Mutation_p.G566V NM_001160004.1|NM_013957.3 NP_001153476.1|NP_039251.2 Q02297 NRG1_HUMAN neuregulin 1 616 NA activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060) apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634) cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1) 39 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) AACCCAGCAGGCCGCTTCTCG 0.512 NA G||| 525 0.104832 0.0182 0.098 5008 , , NA 14514 0.3512 NA 0.002 False NA ,,, NA NA NA 2504 0.0787 NA NA NA NA 0 G VAL/GLY,,VAL/GLY,VAL/GLY,,VAL/GLY,VAL/GLY,,VAL/GLY 118,4286 85.3+/-124.0 0,118,2084 42 46 45 1748,,1799,1697,,1862,1838,,1847 4.7 1 8 dbSNP_131 45 10,8590 5.7+/-21.5 1,8,4291 yes missense,utr-3,missense,missense,utr-3,missense,missense,utr-3,missense NRG1 NM_001159995.1,NM_001159996.1,NM_001159999.1,NM_001160001.1,NM_001160004.1,NM_013956.3,NM_013957.3,NM_013960.3,NM_013964.3 109,,109,109,,109,109,,109 1,126,6375 TT,TG,GG 0.1163,2.6794,0.9843 benign,,benign,benign,,benign,benign,,benign 583/608,,600/625,566/591,,621/646,613/638,,616/641 32621844 128,12876 2202 4300 6502 SO:0001583 missense L12261 CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1 8p21-p12 2014-06-23 ENSG00000157168 ENSG00000157168 3084 Immunoglobulin superfamily / I-set domain containing 7997 protein-coding gene gene with protein product 142445 NRG1 intronic transcript 2 (non-protein coding) HGL, NRG1-IT2 NA 1350381, 8095334 Standard NM_013962 NA Approved HRG, NDF, GGF uc003xiu.2 Q02297 OTTHUMG00000163918 ENST00000287842.3:c.1838G>T chr8.hg19:g.32621844G>T ENSP00000287842:p.Gly613Val NA A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3 hg19 CCDS6084.1 0.02 11.844103 CAGxCCG COVERED 239 0.10943223443223443 10 0.02032520325203252 30 0.08287292817679558 198 0.34615384615384615 1 0.0013192612137203166 G 14.60 2.583427 0.46006 0.026794 0.001163 ENSG00000157168 ENST00000519301;ENST00000523534;ENST00000338921;ENST00000356819;ENST00000287840;ENST00000287845;ENST00000287842;ENST00000405005;ENST00000539990 T;T;T;T;T;T;T;T;T 0.57436 0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4 5.6 4.71 0.59529 Neuregulin 1-related, C-terminal (1); 0.315339 0.34002 N 0.004350 T 0.00012 0.0000 L 0.29908 0.895 0.19575 P 0.9999647104 D;B;P;B;B;P;B 0.53745 0.962;0.294;0.481;0.02;0.426;0.933;0.426 P;B;P;B;B;P;B 0.55785 0.784;0.318;0.515;0.034;0.318;0.784;0.381 T 0.33650 -0.9860 8 . . . . 10.265 0.43449 0.079:0.1382:0.7828:0.0 . 459;587;621;624;613;616;621 B7Z1E3;F8W9E3;Q7RTW4;Q02297-2;Q02297-7;Q02297;Q02297-6 .;.;.;.;.;NRG1_HUMAN;. V 566;689;624;621;616;587;613;616;459 ENSP00000429582:G566V;ENSP00000429067:G689V;ENSP00000343395:G624V;ENSP00000349275:G621V;ENSP00000287840:G616V;ENSP00000287845:G587V;ENSP00000287842:G613V;ENSP00000384620:G616V;ENSP00000439276:G459V . G + 2 0 NRG1 32741386 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 3.472000 0.53114 1.321000 0.45227 0.563000 0.77884 GGC NOVEL NRG1-004 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000376467.1 2 10.534119 KEEP 0 0 0 35 1243 GG 0.999999 0.999999 0 + 14 60 480 0 0 29.570507 315 60 11735 443 ENST00000287842.3 0.042553 1 RNF122 79845 __UNKNOWN__ __UNKNOWN__ 8 33424133 33424133 __UNKNOWN__ Intron SNP C C T rs117550175 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:33424133C>T ENST00000256257.1 - 1 427 NM_024787.2 NP_079063.2 Q9H9V4 RN122_HUMAN ring finger protein 122 NA NA endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) zinc ion binding (GO:0008270) endometrium(2)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1) 7 KIRC - Kidney renal clear cell carcinoma(67;0.0966)|Kidney(114;0.116) GAGGGAGGACCAGCGCGCTGC 0.647 NA C||| 110 0.0219649 0.0 0.0 5008 , , NA 11759 0.1081 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 13 15 14 NA NA 8 NA 33424133 692 1589 2281 SO:0001627 intron_variant AK022588 CCDS6091.1 8p12 2013-01-09 ENSG00000133874 ENSG00000133874 79845 RING-type (C3HC4) zinc fingers 21147 protein-coding gene gene with protein product NA Standard NM_024787 NM_024787 NA Approved FLJ12526 uc003xjo.1 Q9H9V4 OTTHUMG00000163960 ENST00000256257.1:c.25+83G>A chr8.hg19:g.33424133C>T NA Q52LK3 hg19 CCDS6091.1 0.02 22.595224 GACxAGC COVERED NOVEL RNF122-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000376562.1 6 156.695696 KEEP 0 0 0 521 18326 CC 1 1 0 - 23 60 794 0 0 49.421591 511 60 18804 1452 ENST00000256257.1 0.043071 1 DUSP26 78986 __UNKNOWN__ __UNKNOWN__ 8 33449827 33449827 __UNKNOWN__ Intron SNP G G A rs373351723 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:33449827G>A ENST00000256261.4 - 4 954 DUSP26_ENST00000523956.1_Intron NM_024025.1 NP_076930.1 Q9BV47 DUS26_HUMAN dual specificity phosphatase 26 (putative) NA NA negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell adhesion (GO:0045785)|positive regulation of peptidyl-serine dephosphorylation (GO:1902310)|protein dephosphorylation (GO:0006470) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634) p53 binding (GO:0002039)|phosphoprotein phosphatase activity (GO:0004721)|phosphoserine phosphatase activity (GO:0004647)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA polymerase II activating transcription factor binding (GO:0001102) NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1) 15 KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111) ggtggctcacggcggtaattc 0.577 NA G||| 13 0.00259585 0.0 0.0 5008 , , NA 15655 0.0129 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY902194 CCDS6092.1 8p12 2014-09-09 ENSG00000133878 ENSG00000133878 78986 Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases 28161 protein-coding gene gene with protein product NA Standard NM_024025 NM_024025 NA Approved MGC1136, DUSP24 uc003xjp.3 Q9BV47 OTTHUMG00000163961 ENST00000256261.4:c.437-97C>T chr8.hg19:g.33449827G>A NA D3DSV8|Q9BTW0 hg19 CCDS6092.1 0.02 1.836796 CACxGCG COVERED NOVEL DUSP26-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000376564.1 0 3.611107 KEEP 0 0 0 12 394 GG 0.993634 0.993582 0 - 4 60 148 0 0 9.471459 93 60 3333 116 ENST00000256261.4 0.041237 0.999948 DUSP26 78986 __UNKNOWN__ __UNKNOWN__ 8 33451026 33451026 __UNKNOWN__ Intron SNP C C T rs2044162 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:33451026C>T ENST00000256261.4 - 3 954 DUSP26_ENST00000523956.1_Intron NM_024025.1 NP_076930.1 Q9BV47 DUS26_HUMAN dual specificity phosphatase 26 (putative) NA NA negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell adhesion (GO:0045785)|positive regulation of peptidyl-serine dephosphorylation (GO:1902310)|protein dephosphorylation (GO:0006470) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634) p53 binding (GO:0002039)|phosphoprotein phosphatase activity (GO:0004721)|phosphoserine phosphatase activity (GO:0004647)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA polymerase II activating transcription factor binding (GO:0001102) NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1) 15 KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111) CCTGTTCTTTCCTGCTCCCAG 0.532 NA C||| 1847 0.36881 0.0862 0.5144 5008 , , NA 16979 0.4702 NA 0.4115 False NA ,,, NA NA NA 2504 0.499 NA NA NA NA 0 C 606,3800 245.3+/-254.3 43,520,1640 31 28 29 0.1 0 8 dbSNP_94 29 3539,5061 478.3+/-369.9 735,2069,1496 no intron DUSP26 NM_024025.1 778,2589,3136 TT,TC,CC 41.1512,13.754,31.8699 33451026 4145,8861 2203 4300 6503 SO:0001627 intron_variant AY902194 CCDS6092.1 8p12 2014-09-09 ENSG00000133878 ENSG00000133878 78986 Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases 28161 protein-coding gene gene with protein product NA Standard NM_024025 NM_024025 NA Approved MGC1136, DUSP24 uc003xjp.3 Q9BV47 OTTHUMG00000163961 ENST00000256261.4:c.436+24G>A chr8.hg19:g.33451026C>T NA D3DSV8|Q9BTW0 hg19 CCDS6092.1 0.02 2.217352 TTTxCTG COVERED NOVEL DUSP26-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000376564.1 1 5.115412 KEEP 0 0 0 17 532 CC 0.999366 0.993792 0 - 5 60 185 0 0 13.231827 60 60 2176 85 ENST00000256261.4 0.076923 0.994422 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 37256315 37256315 __UNKNOWN__ IGR SNP T T C rs2843808 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:37256315T>C NA NA RP11-527N22.1 (66813 upstream) : RP11-527N22.2 (6641 downstream) NA NA NA GCAGTGAGGATGGTTACTGCT 0.493 NA C||| 1270 0.253594 0.1248 0.255 5008 , , NA 15047 0.5198 NA 0.1769 False NA ,,, NA NA NA 2504 0.2311 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr8.hg19:g.37256315T>C NA hg19 0.02 1.953082 GGAxGGT COVERED NOVEL 0 0 3.911923 KEEP 0 0 0 13 412 TT 0.994391 0.983992 0 6 60 214 0 0 15.748339 55 60 2065 95 0.098361 0.989542 PROSC 11212 __UNKNOWN__ __UNKNOWN__ 8 37635649 37635649 __UNKNOWN__ 3'UTR SNP A A G rs7463174 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:37635649A>G ENST00000328195.3 + 0 922 NM_007198.3 NP_009129.1 O94903 PROSC_HUMAN proline synthetase co-transcribed homolog (bacterial) NA NA alpha-amino acid metabolic process (GO:1901605) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrion (GO:0005739) pyridoxal phosphate binding (GO:0030170) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1) 7 Lung NSC(58;0.174) BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) L-Proline(DB00172) AGCACTAACTATGCACTAACC 0.537 NA A||| 1016 0.202875 0.084 0.2378 5008 , , NA 19337 0.3065 NA 0.1402 False NA ,,, NA NA NA 2504 0.2965 NA NA NA NA 0 A 472,3934 222.3+/-239.2 29,414,1760 55 55 55 -5.6 0 8 dbSNP_116 55 1337,7263 261.0+/-283.6 102,1133,3065 yes utr-3 PROSC NM_007198.3 131,1547,4825 GG,GA,AA 15.5465,10.7127,13.909 37635649 1809,11197 2203 4300 6503 SO:0001624 3_prime_UTR_variant AB018566 CCDS6096.1 8p11.2 2008-01-07 2001-12-04 ENSG00000147471 ENSG00000147471 11212 9457 protein-coding gene gene with protein product 604436 proline synthetase co-transcribed (bacterial homolog) NA Standard NM_007198 NM_007198 NA Approved uc003xkh.3 O94903 OTTHUMG00000164024 ENST00000328195.3:c.*27A>G chr8.hg19:g.37635649A>G NA Q6FI94 hg19 CCDS6096.1 0.02 4.922473 ACTxTGC COVERED NOVEL PROSC-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000376796.1 2 8.121432 KEEP 0 0 0 27 795 AA 0.999988 0.999986 0 + 6 60 216 0 0 14.125192 114 60 4133 158 ENST00000328195.3 0.05 0.999999 GPR124 25960 __UNKNOWN__ __UNKNOWN__ 8 37689142 37689142 __UNKNOWN__ Intron SNP C C T rs75832555 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:37689142C>T ENST00000412232.2 + 8 1110 GPR124_ENST00000315215.7_Intron NM_032777.9 NP_116166.9 Q96PE1 GP124_HUMAN G protein-coupled receptor 124 NA NA central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040) cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 37 BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) GCTGCCCAGCCCCCAACCCCA 0.602 NA C||| 273 0.0545128 0.0023 0.0447 5008 , , NA 18269 0.1091 NA 0.0159 False NA ,,, NA NA NA 2504 0.1155 NA NA NA NA 0 C 21,4385 28.1+/-56.4 0,21,2182 33 31 32 2.6 0 8 dbSNP_132 32 187,8413 80.4+/-143.0 3,181,4116 no intron GPR124 NM_032777.9 3,202,6298 TT,TC,CC 2.1744,0.4766,1.5993 37689142 208,12798 2203 4300 6503 SO:0001627 intron_variant AB040964 CCDS6097.2 8p11.22 2014-08-08 ENSG00000020181 ENSG00000020181 25960 -, GPCR / Class B : Orphans, Immunoglobulin superfamily / Immunoglobulin-like domain containing 17849 protein-coding gene gene with protein product tumor endothelial marker 5 606823 NA 11559528, 12565841 Standard NM_032777 NA Approved TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390 uc003xkj.3 Q96PE1 OTTHUMG00000156182 ENST00000412232.2:c.1097+37C>T chr8.hg19:g.37689142C>T NA A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4 hg19 CCDS6097.2 0.02 4.133375 AGCxCCC COVERED NOVEL GPR124-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000343331.2 1 10.534089 KEEP 0 0 0 35 1233 CC 0.999999 0.999997 0 + 6 60 221 0 0 14.646241 113 60 4150 188 ENST00000412232.2 0.05042 0.999998 GPR124 25960 __UNKNOWN__ __UNKNOWN__ 8 37690702 37690702 __UNKNOWN__ Silent SNP C C A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:37690702C>A ENST00000412232.2 + 9 1285 c.1272C>A c.(1270-1272)acC>acA p.T424T GPR124_ENST00000315215.7_Silent_p.T424T NM_032777.9 NP_116166.9 Q96PE1 GP124_HUMAN G protein-coupled receptor 124 424 NA central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040) cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 37 BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) ACGACATCACCAGGGTGCTGT 0.677 NA NA NA NA NA NA NA NA NA NA NA 0 45 41 42 NA NA 8 NA 37690702 2203 4298 6501 SO:0001819 synonymous_variant AB040964 CCDS6097.2 8p11.22 2014-08-08 ENSG00000020181 ENSG00000020181 25960 -, GPCR / Class B : Orphans, Immunoglobulin superfamily / Immunoglobulin-like domain containing 17849 protein-coding gene gene with protein product tumor endothelial marker 5 606823 NA 11559528, 12565841 Standard NM_032777 NA Approved TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390 uc003xkj.3 Q96PE1 OTTHUMG00000156182 ENST00000412232.2:c.1272C>A chr8.hg19:g.37690702C>A NA A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4 hg19 CCDS6097.2 0.02 12.961311 CACxAGG COVERED NOVEL GPR124-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000343331.2 2 40.933395 KEEP 0 0 0 136 4834 CC 1 1 0 + 12 60 428 0 0 26.588174 292 60 11349 589 ENST00000412232.2 0.039474 1 ADRB3 155 __UNKNOWN__ __UNKNOWN__ 8 37823798 37823798 __UNKNOWN__ Missense_Mutation SNP A A G rs4994 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:37823798A>G ENST00000345060.3 - 1 685 c.190T>C c.(190-192)Tgg>Cgg p.W64R NM_000025.2 NP_000016.1 P13945 ADRB3_HUMAN adrenoceptor beta 3 64 NA W -> R (in dbSNP:rs4994). {ECO:0000269|PubMed:10391210, ECO:0000269|PubMed:7609752, ECO:0000269|PubMed:8641219, ECO:0000269|PubMed:8721782, ECO:0000269|Ref.5}. activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|aging (GO:0007568)|brown fat cell differentiation (GO:0050873)|carbohydrate metabolic process (GO:0005975)|diet induced thermogenesis (GO:0002024)|eating behavior (GO:0042755)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|generation of precursor metabolites and energy (GO:0006091)|heat generation (GO:0031649)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of MAPK cascade (GO:0043410)|response to antibiotic (GO:0046677)|response to cold (GO:0009409)|vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure (GO:0002025) integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) beta-adrenergic receptor activity (GO:0004939)|beta3-adrenergic receptor activity (GO:0015052)|epinephrine binding (GO:0051379)|norepinephrine binding (GO:0051380)|protein homodimerization activity (GO:0042803) central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4) 9 Colorectal(12;0.00627) Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;1.37e-11) Amitriptyline(DB00321)|Amphetamine(DB00182)|Arbutamine(DB01102)|Bethanidine(DB00217)|Bopindolol(DB08807)|Bupranolol(DB08808)|Clenbuterol(DB01407)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Fenoterol(DB01288)|Isoprenaline(DB01064)|Mephentermine(DB01365)|Mirabegron(DB08893)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Propranolol(DB00571)|Trimipramine(DB00726) CTCGGAGTCCAGGCGATGGCC 0.701 NA G||| 576 0.115016 0.0946 0.1196 5008 , , NA 15951 0.131 NA 0.0815 False NA ,,, NA NA NA 2504 0.1575 NA NA NA NA 0 GRCh37 CM950017 ADRB3 M rs4994 G ARG/TRP 468,3938 748.4+/-411.9 18,432,1753 28 30 29 http://www.ncbi.nlm.nih.gov/sites/varvu?gene 190 2.4 1 8 dbSNP_52 29 649,7941 762.0+/-407.6 27,595,3673 yes missense ADRB3 NM_000025.2 101 45,1027,5426 GG,GA,AA 7.5553,10.6219,8.595 benign 64/409 37823798 1117,11879 2203 4295 6498 SO:0001583 missense AY487247 CCDS6099.1 8p12 2012-08-08 2012-05-09 ENSG00000188778 155 GPCR / Class A : Adrenoceptors : beta 288 protein-coding gene gene with protein product 109691 adrenergic, beta-3-, receptor NA 7898940, 15123695 Standard NM_000025 NM_000025 NA Approved uc003xkr.2 P13945 ENST00000345060.3:c.190T>C chr8.hg19:g.37823798A>G ENSP00000343782:p.Trp64Arg NA Q4JFT4 hg19 CCDS6099.1 0.02 7.484501 TCCxGGC COVERED 218 0.09981684981684982 32 0.06504065040650407 38 0.10497237569060773 84 0.14685314685314685 64 0.08443271767810026 G 0.128 -1.117618 0.01785 0.106219 0.075553 ENSG00000188778 ENST00000345060 T 0.31769 1.48 4.42 2.44 0.29823 GPCR, rhodopsin-like superfamily (1); 0.136608 0.46758 N 0.000270 T 0.00039 0.0001 N 0.00021 -2.755 0.58432 P 5.000000000032756E-6 B 0.02656 0.0 B 0.01281 0.0 T 0.31024 -0.9958 9 0.02654 T 1 . 4.4901 0.11810 0.1925:0.0:0.4989:0.3086 rs4994;rs17025;rs4994 64 P13945 ADRB3_HUMAN R 64 ENSP00000343782:W64R ENSP00000343782:W64R W - 1 0 ADRB3 37942955 0.029000 0.19370 0.994000 0.49952 0.505000 0.33919 1.280000 0.33202 0.605000 0.29947 -0.355000 0.07637 TGG NOVEL ADRB3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000376826.1 3 32.497028 KEEP 0 0 0 108 3361 AA 1 1 0 - 8 60 277 0 0 16.370796 227 60 8257 433 ENST00000345060.3 0.034043 1 ASH2L 9070 __UNKNOWN__ __UNKNOWN__ 8 37964002 37964002 __UNKNOWN__ Intron SNP G G T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:37964002G>T ENST00000343823.6 + 2 564 ASH2L_ENST00000250635.7_Intron|ASH2L_ENST00000428278.2_Intron|ASH2L_ENST00000521652.1_Intron|ASH2L_ENST00000545394.1_Intron NM_004674.4 NP_004665.2 Q9UBL3 ASH2L_HUMAN ash2 (absent, small, or homeotic)-like (Drosophila) NA NA cellular response to DNA damage stimulus (GO:0006974)|hemopoiesis (GO:0030097)|histone H3-K4 methylation (GO:0051568)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351) histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212) NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1) 19 Colorectal(12;0.000501) Lung NSC(58;0.0295)|all_lung(54;0.0413) AATAGGGTTTGTTTTAGTTAT 0.408 NA NA NA NA NA NA NA NA NA NA NA 0 66 68 67 NA NA 8 NA 37964002 2203 4300 6503 SO:0001627 intron_variant AF056717 CCDS6101.1, CCDS47840.1, CCDS59100.1, CCDS64872.1 8p11.2 2013-01-28 2001-11-28 ENSG00000129691 ENSG00000129691 9070 Zinc fingers, PHD-type 744 protein-coding gene gene with protein product 604782 ash2 (absent, small, or homeotic, Drosophila, homolog)-like ASH2L1 NA 10393421 Standard NM_004674 NM_004674 NA Approved ASH2L2, ASH2, Bre2 uc003xkt.5 Q9UBL3 OTTHUMG00000164016 ENST00000343823.6:c.255+40G>T chr8.hg19:g.37964002G>T NA A8K7C3|D3DSW9|O60659|O60660|Q96B62 hg19 CCDS6101.1 0.02 5.266347 TTTxTTT COVERED NOVEL ASH2L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000376749.4 2 16.495081 KEEP 0 6 44 72 2216 GG 1 1 0 + 35 70 442 0 0 18.512766 223 70 7173 377 ENST00000343823.6 0.135659 1 ASH2L 9070 __UNKNOWN__ __UNKNOWN__ 8 37964011 37964011 __UNKNOWN__ Intron SNP A A T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:37964011A>T ENST00000343823.6 + 2 564 ASH2L_ENST00000250635.7_Intron|ASH2L_ENST00000428278.2_Intron|ASH2L_ENST00000521652.1_Intron|ASH2L_ENST00000545394.1_Intron NM_004674.4 NP_004665.2 Q9UBL3 ASH2L_HUMAN ash2 (absent, small, or homeotic)-like (Drosophila) NA NA cellular response to DNA damage stimulus (GO:0006974)|hemopoiesis (GO:0030097)|histone H3-K4 methylation (GO:0051568)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351) histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212) NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1) 19 Colorectal(12;0.000501) Lung NSC(58;0.0295)|all_lung(54;0.0413) TGTTTTAGTTATTTCttcttc 0.423 NA NA NA NA NA NA NA NA NA NA NA 0 54 56 55 NA NA 8 NA 37964011 2203 4300 6503 SO:0001627 intron_variant AF056717 CCDS6101.1, CCDS47840.1, CCDS59100.1, CCDS64872.1 8p11.2 2013-01-28 2001-11-28 ENSG00000129691 ENSG00000129691 9070 Zinc fingers, PHD-type 744 protein-coding gene gene with protein product 604782 ash2 (absent, small, or homeotic, Drosophila, homolog)-like ASH2L1 NA 10393421 Standard NM_004674 NM_004674 NA Approved ASH2L2, ASH2, Bre2 uc003xkt.5 Q9UBL3 OTTHUMG00000164016 ENST00000343823.6:c.255+49A>T chr8.hg19:g.37964011A>T NA A8K7C3|D3DSW9|O60659|O60660|Q96B62 hg19 CCDS6101.1 0.02 1.186099 GTTxTTT COVERED NOVEL ASH2L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000376749.4 2 9.773827 KEEP 0 5 69 58 1524 AA 1 1 0 + 35 70 325 2 0 9.410891 181 70 5614 318 ENST00000343823.6 0.162037 1 BAG4 9530 __UNKNOWN__ __UNKNOWN__ 8 38058361 38058361 __UNKNOWN__ Intron SNP T T C rs10216482 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:38058361T>C ENST00000287322.4 + 3 649 BAG4_ENST00000432471.2_Intron|BAG4_ENST00000521282.1_Intron NM_004874.3 NP_004865.1 O95429 BAG4_HUMAN BCL2-associated athanogene 4 NA NA cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to tumor necrosis factor (GO:0071356)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA modification (GO:0090367)|negative regulation of phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:2001145)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion (GO:0045785)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein localization to plasma membrane (GO:0072659)|ruffle assembly (GO:0097178) cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886) poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057) breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1) 11 Colorectal(12;0.000442) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121) ggtgatccgcttgccttggcc 0.517 NA C||| 1183 0.236222 0.2458 0.2666 5008 , , NA 17491 0.3194 NA 0.2584 False NA ,,, NA NA NA 2504 0.093 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF095194 CCDS6104.1, CCDS56533.1 8p11.23 2008-08-07 ENSG00000156735 ENSG00000156735 9530 940 protein-coding gene gene with protein product silencer of death domains 603884 NA 9873016, 9915703 Standard NM_004874 NM_004874 NA Approved SODD uc003xky.2 O95429 OTTHUMG00000164064 ENST00000287322.4:c.379-6669T>C chr8.hg19:g.38058361T>C NA B4E217|O95818 hg19 CCDS6104.1 0.02 -0.086745 CGCxTGC UNCOVERED NOVEL BAG4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000377038.2 0 2.403547 KEEP 0 0 0 8 231 TT 0.99257 0.09898 0 + 2 60 82 0 0 6.993065 8 60 276 24 ENST00000287322.4 0.2 0.099721 BAG4 9530 __UNKNOWN__ __UNKNOWN__ 8 38068324 38068324 __UNKNOWN__ 3'UTR SNP C C T rs1043782 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:38068324C>T ENST00000287322.4 + 0 1958 BAG4_ENST00000432471.2_3'UTR NM_004874.3 NP_004865.1 O95429 BAG4_HUMAN BCL2-associated athanogene 4 NA NA cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to tumor necrosis factor (GO:0071356)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA modification (GO:0090367)|negative regulation of phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:2001145)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion (GO:0045785)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein localization to plasma membrane (GO:0072659)|ruffle assembly (GO:0097178) cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886) poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057) breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1) 11 Colorectal(12;0.000442) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121) ACACTTCACACAACAGGCTTA 0.368 NA T||| 1185 0.236621 0.2474 0.2666 5008 , , NA 18477 0.3194 NA 0.2584 False NA ,,, NA NA NA 2504 0.093 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF095194 CCDS6104.1, CCDS56533.1 8p11.23 2008-08-07 ENSG00000156735 ENSG00000156735 9530 940 protein-coding gene gene with protein product silencer of death domains 603884 NA 9873016, 9915703 Standard NM_004874 NM_004874 NA Approved SODD uc003xky.2 O95429 OTTHUMG00000164064 ENST00000287322.4:c.*313C>T chr8.hg19:g.38068324C>T NA B4E217|O95818 hg19 CCDS6104.1 0.02 31.478977 ACAxAAC COVERED NOVEL BAG4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000377038.2 6 34.853358 KEEP 0 4 123 159 5715 CC 1 1 0 + 27 60 960 0 0 57.986979 753 60 28980 1157 ENST00000287322.4 0.034615 1 BAG4 9530 __UNKNOWN__ __UNKNOWN__ 8 38069508 38069508 __UNKNOWN__ 3'UTR SNP C C T rs60530611 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:38069508C>T ENST00000287322.4 + 0 3142 NM_004874.3 NP_004865.1 O95429 BAG4_HUMAN BCL2-associated athanogene 4 NA NA cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to tumor necrosis factor (GO:0071356)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA modification (GO:0090367)|negative regulation of phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:2001145)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion (GO:0045785)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein localization to plasma membrane (GO:0072659)|ruffle assembly (GO:0097178) cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886) poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057) breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1) 11 Colorectal(12;0.000442) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121) ATTAGCTGTCCCCACTCATAA 0.358 NA T||| 1185 0.236621 0.2474 0.2666 5008 , , NA 15712 0.3194 NA 0.2584 False NA ,,, NA NA NA 2504 0.093 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF095194 CCDS6104.1, CCDS56533.1 8p11.23 2008-08-07 ENSG00000156735 ENSG00000156735 9530 940 protein-coding gene gene with protein product silencer of death domains 603884 NA 9873016, 9915703 Standard NM_004874 NM_004874 NA Approved SODD uc003xky.2 O95429 OTTHUMG00000164064 ENST00000287322.4:c.*1497C>T chr8.hg19:g.38069508C>T NA B4E217|O95818 hg19 CCDS6104.1 0.02 35.823053 GTCxCCA COVERED NOVEL BAG4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000377038.2 3 44.915264 KEEP 0 2 62 171 6028 CC 1 1 0 + 24 60 905 0 0 54.914547 795 60 29548 1247 ENST00000287322.4 0.029304 1 DDHD2 23259 __UNKNOWN__ __UNKNOWN__ 8 38110215 38110215 __UNKNOWN__ Intron SNP T T C rs2898674 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:38110215T>C ENST00000529845.1 + 4 302 DDHD2_ENST00000397166.2_Intron|DDHD2_ENST00000517385.1_Intron|DDHD2_ENST00000520272.2_Intron O94830 DDHD2_HUMAN DDHD domain containing 2 NA NA cell death (GO:0008219)|lipid catabolic process (GO:0016042) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|microtubule organizing center (GO:0005815) hydrolase activity (GO:0016787)|metal ion binding (GO:0046872) endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2) 28 Colorectal(12;0.000442) all_lung(54;0.0657)|Lung NSC(58;0.175) BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977) CAGAGGTAAATGTAGCTCTTG 0.438 NA T||| 999 0.199481 0.1225 0.2478 5008 , , NA 16567 0.3204 NA 0.2545 False NA ,,, NA NA NA 2504 0.0879 NA NA NA NA 0 T , 689,3717 287.8+/-279.5 67,555,1581 119 102 108 , -2 0 8 dbSNP_101 108 1982,6618 347.9+/-326.8 225,1532,2543 no intron,intron DDHD2 NM_001164232.1,NM_015214.2 , 292,2087,4124 CC,CT,TT 23.0465,15.6378,20.5367 , , 38110215 2671,10335 2203 4300 6503 SO:0001627 intron_variant AK056525 CCDS34883.1 8p11.23 2014-03-03 2004-04-05 2004-04-07 23259 Sterile alpha motif (SAM) domain containing 29106 protein-coding gene gene with protein product 615003 SAM, WWE and DDHD domain containing 1 SAMWD1 NA 9872452, 11788596, 19632984, 20932832 Standard XM_291291 NM_015214 NA Approved KIAA0725, SPG54 uc003xlc.3 O94830 ENST00000529845.1:c.-10-45T>C chr8.hg19:g.38110215T>C NA B3KWV2|B3KXB5|Q9H8X7 hg19 0.02 10.299143 AAAxGTA COVERED NOVEL DDHD2-024 PUTATIVE not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000381972.1 5 12.001816 KEEP 0 2 63 62 1879 TT 1 1 0 + 9 60 332 0 0 20.425271 257 60 9074 416 ENST00000529845.1 0.033835 1 PPAPDC1B 84513 __UNKNOWN__ __UNKNOWN__ 8 38124689 38124689 __UNKNOWN__ Intron SNP C C G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:38124689C>G ENST00000531823.1 - 5 497 PPAPDC1B_ENST00000529359.1_Intron|PPAPDC1B_ENST00000424479.2_Intron|PPAPDC1B_ENST00000422581.2_Intron|PPAPDC1B_ENST00000419686.2_3'UTR Q8NEB5 PPC1B_HUMAN phosphatidic acid phosphatase type 2 domain containing 1B NA NA phospholipid dephosphorylation (GO:0046839) cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) phosphatidate phosphatase activity (GO:0008195) kidney(1)|lung(1) 2 Colorectal(12;0.000442)|Esophageal squamous(3;0.0725) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121) BRCA - Breast invasive adenocarcinoma(5;3.04e-26)|COAD - Colon adenocarcinoma(9;0.188) ATTGTAGAAACAAGAGTAGTC 0.363 NA NA NA NA NA NA NA NA NA NA NA 0 45 42 43 NA NA 8 NA 38124689 1836 4083 5919 SO:0001627 intron_variant AF212238 CCDS47841.1, CCDS47842.1, CCDS47843.1 8p12 2005-08-09 ENSG00000147535 ENSG00000147535 84513 25026 protein-coding gene gene with protein product 610626 NA Standard NM_032483 NM_032483 NA Approved HTPAP uc003xlf.4 Q8NEB5 OTTHUMG00000165104 ENST00000531823.1:c.67+95G>C chr8.hg19:g.38124689C>G NA C9JKF5|Q3KQX6|Q9BY45 hg19 0.02 11.573482 AAAxAAG COVERED NOVEL PPAPDC1B-015 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000381875.1 1 28.59231 KEEP 0 0 0 95 3377 CC 1 1 0 - 13 60 470 0 0 30.510611 268 60 10073 436 ENST00000531823.1 0.046263 1 WHSC1L1 54904 __UNKNOWN__ __UNKNOWN__ 8 38205881 38205881 __UNKNOWN__ Intron SNP C C A rs72630610 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:38205881C>A ENST00000317025.8 - 2 474 WHSC1L1_ENST00000433384.2_Intron|WHSC1L1_ENST00000316985.3_Intron|WHSC1L1_ENST00000527502.1_Intron NM_023034.1 NP_075447.1 Q9BZ95 NSD3_HUMAN Wolf-Hirschhorn syndrome candidate 1-like 1 NA NA histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) chromosome (GO:0005694)|nucleus (GO:0005634) histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270) NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 Colorectal(12;0.000442)|Esophageal squamous(3;0.0725) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065) Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511) AAACAGATAACTGATATAATT 0.299 NA T NUP98 AML C||| 390 0.0778754 0.003 0.0764 5008 , , NA 19033 0.0407 NA 0.1113 False NA ,,, NA NA NA 2504 0.184 NA NA NA Dom yes 8 8p12 54904 Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3) L 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF332469 CCDS6105.1, CCDS43729.1 8p11.2 2013-05-20 ENSG00000147548 ENSG00000147548 54904 12767 protein-coding gene gene with protein product 607083 NA 10802047, 23269674 Standard NM_023034 NM_023034 NA Approved FLJ20353, NSD3 uc003xli.3 Q9BZ95 ENST00000317025.8:c.44-148G>T chr8.hg19:g.38205881C>A NA B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6 hg19 CCDS43729.1 0.02 4.202118 TAAxTGA COVERED NOVEL WHSC1L1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000381924.3 2 4.213747 KEEP 0 0 0 14 498 CC 0.995343 0.995337 0 - 5 60 187 0 0 12.234612 106 60 3987 125 ENST00000317025.8 0.045045 0.999994 C8orf86 389649 __UNKNOWN__ __UNKNOWN__ 8 38369493 38369493 __UNKNOWN__ 3'UTR SNP A A G rs6474384 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:38369493A>G ENST00000358138.1 - 0 1108 C8orf86_ENST00000437935.2_3'UTR NM_207412.1 NP_997295.1 Q6ZUL3 CH086_HUMAN chromosome 8 open reading frame 86 NA NA breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1) 5 AGATTAGAATATAACTGTTAA 0.353 NA A||| 900 0.179712 0.2383 0.1196 5008 , , NA 18490 0.1379 NA 0.0746 False NA ,,, NA NA NA 2504 0.2945 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC137511 CCDS6108.1 8p12-p11.23 2009-03-03 ENSG00000196166 ENSG00000196166 389649 33774 protein-coding gene gene with protein product NA Standard NM_207412 NM_207412 NA Approved FLJ43582 uc003xlx.1 Q6ZUL3 OTTHUMG00000163992 ENST00000358138.1:c.*412T>C chr8.hg19:g.38369493A>G NA A4QPB7 hg19 CCDS6108.1 0.02 4.521248 AATxTAA COVERED NOVEL C8orf86-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000376668.1 1 10.830135 KEEP 0 0 0 36 1081 AA 0.999999 0.999999 0 - 5 60 194 0 0 12.374954 138 60 4972 203 ENST00000358138.1 0.034965 1 C8orf86 389649 __UNKNOWN__ __UNKNOWN__ 8 38369926 38369926 __UNKNOWN__ Missense_Mutation SNP A A C rs74846385 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:38369926A>C ENST00000358138.1 - 3 675 c.651T>G c.(649-651)atT>atG p.I217M C8orf86_ENST00000437935.2_3'UTR NM_207412.1 NP_997295.1 Q6ZUL3 CH086_HUMAN chromosome 8 open reading frame 86 217 NA breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1) 5 cacacaccagaatcacctgtg 0.527 NA A||| 153 0.0305511 0.0 0.0562 5008 , , NA 18529 0.0942 NA 0.0 False NA ,,, NA NA NA 2504 0.0194 NA NA NA NA 0 A MET/ILE 6,4400 9.9+/-24.2 0,6,2197 40 42 41 651 0.5 0 8 dbSNP_131 41 1,8599 1.2+/-3.3 0,1,4299 yes missense C8orf86 NM_207412.1 10 0,7,6496 CC,CA,AA 0.0116,0.1362,0.0538 probably-damaging 217/224 38369926 7,12999 2203 4300 6503 SO:0001583 missense BC137511 CCDS6108.1 8p12-p11.23 2009-03-03 ENSG00000196166 ENSG00000196166 389649 33774 protein-coding gene gene with protein product NA Standard NM_207412 NM_207412 NA Approved FLJ43582 uc003xlx.1 Q6ZUL3 OTTHUMG00000163992 ENST00000358138.1:c.651T>G chr8.hg19:g.38369926A>C ENSP00000350856:p.Ile217Met NA A4QPB7 hg19 CCDS6108.1 0.02 22.894764 CAGxATC COVERED 86 0.039377289377289376 0 0.0 23 0.06353591160220995 63 0.11013986013986014 0 0.0 A 2.372 -0.344100 0.05208 0.001362 1.16E-4 ENSG00000196166 ENST00000358138 T 0.55052 0.54 1.63 0.46 0.16684 . . . . . T 0.00784 0.0026 N 0.08118 0 0.09310 N 1 D 0.62365 0.991 P 0.53224 0.721 T 0.01858 -1.1259 9 0.87932 D 0 . 3.3322 0.07088 0.7696:0.0:0.2304:0.0 . 217 Q6ZUL3 CH086_HUMAN M 217 ENSP00000350856:I217M ENSP00000350856:I217M I - 3 3 C8orf86 38489083 0.000000 0.05858 0.001000 0.08648 0.050000 0.14768 -1.618000 0.02049 0.110000 0.17919 0.459000 0.35465 ATT NOVEL C8orf86-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000376668.1 1 30.090289 KEEP 0 0 0 100 3165 AA 1 1 0 - 22 60 854 0 0 57.666903 432 60 15750 725 ENST00000358138.1 0.048458 1 C8orf86 389649 __UNKNOWN__ __UNKNOWN__ 8 38374087 38374087 __UNKNOWN__ Intron SNP G G C rs76613072 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:38374087G>C ENST00000358138.1 - 2 340 C8orf86_ENST00000437935.2_Intron NM_207412.1 NP_997295.1 Q6ZUL3 CH086_HUMAN chromosome 8 open reading frame 86 NA NA breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1) 5 TGGAGAACTGGAGAATTGTTT 0.413 NA G||| 224 0.0447284 0.0779 0.0245 5008 , , NA 20287 0.0813 NA 0.001 False NA ,,, NA NA NA 2504 0.0215 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC137511 CCDS6108.1 8p12-p11.23 2009-03-03 ENSG00000196166 ENSG00000196166 389649 33774 protein-coding gene gene with protein product NA Standard NM_207412 NM_207412 NA Approved FLJ43582 uc003xlx.1 Q6ZUL3 OTTHUMG00000163992 ENST00000358138.1:c.316-57C>G chr8.hg19:g.38374087G>C NA A4QPB7 hg19 CCDS6108.1 0.02 2.136338 CTGxAGA COVERED NOVEL C8orf86-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000376668.1 0 4.814931 KEEP 0 0 0 16 526 GG 0.997832 0.997771 0 - 9 60 342 0 0 25.482022 88 60 3297 125 ENST00000358138.1 0.092784 0.99994 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 38458696 38458696 __UNKNOWN__ IGR SNP T T C rs7812668 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:38458696T>C NA NA RP11-675F6.4 (42158 upstream) : RP11-495O10.1 (99447 downstream) NA NA NA GGGGCCCCCGTCCTCCTCCTC 0.597 NA t||| 1340 0.267572 0.3026 0.1427 5008 , , NA 14900 0.2827 NA 0.1899 False NA ,,, NA NA NA 2504 0.3732 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr8.hg19:g.38458696T>C NA hg19 0.02 1.9384 CCGxCCT COVERED NOVEL 0 3 19.887393 KEEP 0 1 5 68 2122 TT 1 0.99994 0 4 49 146 0 0 9.275614 93 60 3136 213 0.041237 0.99994 TACC1 6867 __UNKNOWN__ __UNKNOWN__ 8 38706619 38706619 __UNKNOWN__ 3'UTR SNP G G A rs117077992 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:38706619G>A ENST00000317827.4 + 0 3875 TACC1_ENST00000276520.8_3'UTR|TACC1_ENST00000348567.4_3'UTR|TACC1_ENST00000330691.6_3'UTR|TACC1_ENST00000379931.3_3'UTR|TACC1_ENST00000519416.1_3'UTR|TACC1_ENST00000520615.1_3'UTR NM_006283.2 NP_006274.2 O75410 TACC1_HUMAN transforming, acidic coiled-coil containing protein 1 NA NA cell cycle (GO:0007049)|cell division (GO:0051301)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886) cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634) breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3) 17 all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065) LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235) TTTTTCCCAAGTGTGATGCAT 0.303 NA G||| 68 0.0135783 0.0 0.0086 5008 , , NA 19975 0.0546 NA 0.004 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF049910 CCDS6109.1, CCDS47845.1, CCDS55224.1 8p11 2012-12-20 ENSG00000147526 ENSG00000147526 6867 11522 protein-coding gene gene with protein product 605301 NA Standard NM_006283 NM_006283 NA Approved uc010lwp.3 O75410 OTTHUMG00000164018 ENST00000317827.4:c.*1078G>A chr8.hg19:g.38706619G>A NA B2RBD9|D3DSX6|Q6Y687|Q86YG7|Q8IUJ2|Q8IUJ3|Q8IUJ4|Q8IZG2|Q8NEY7|Q9UPP9 hg19 CCDS6109.1 0.02 6.405277 CAAxTGT COVERED NOVEL TACC1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000376768.1 2 21.670961 KEEP 0 0 0 72 2584 GG 1 1 0 + 11 60 404 0 0 27.432291 178 60 6703 310 ENST00000317827.4 0.058201 1 HTRA4 203100 __UNKNOWN__ __UNKNOWN__ 8 38840591 38840591 __UNKNOWN__ Intron SNP C C T rs7814264 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:38840591C>T ENST00000302495.4 + 8 1368 NM_153692.3 NP_710159.1 P83105 HTRA4_HUMAN HtrA serine peptidase 4 NA NA negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558) extracellular region (GO:0005576) endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252) central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1) 11 all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955) LUSC - Lung squamous cell carcinoma(45;1.5e-07) AGGCCTTTGTCATCTACCTTT 0.418 NA C||| 2273 0.453874 0.3109 0.513 5008 , , NA 19451 0.749 NA 0.4314 False NA ,,, NA NA NA 2504 0.3241 NA NA NA NA 0 C 1400,3006 458.8+/-352.1 239,922,1042 77 75 76 -0.4 0 8 dbSNP_116 76 3340,5260 496.0+/-374.2 656,2028,1616 no intron HTRA4 NM_153692.3 895,2950,2658 TT,TC,CC 38.8372,31.7749,36.4447 38840591 4740,8266 2203 4300 6503 SO:0001627 intron_variant AK075205 CCDS6110.1 8p11.23 2008-02-05 ENSG00000169495 ENSG00000169495 203100 26909 protein-coding gene gene with protein product 610700 NA Standard NM_153692 NM_153692 NA Approved FLJ90724 uc003xmj.3 P83105 OTTHUMG00000164070 ENST00000302495.4:c.1268+24C>T chr8.hg19:g.38840591C>T NA Q542Z4|Q6PF13 hg19 CCDS6110.1 0.02 15.442155 TGTxATC COVERED NOVEL HTRA4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000377077.1 0 16.688779 KEEP 0 1 30 66 2338 CC 1 1 0 + 19 60 690 0 0 45.475366 354 60 13615 541 ENST00000302495.4 0.050938 1 HTRA4 203100 __UNKNOWN__ __UNKNOWN__ 8 38845638 38845638 __UNKNOWN__ 3'UTR SNP A A C rs66513029 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:38845638A>C ENST00000302495.4 + 0 1552 NM_153692.3 NP_710159.1 P83105 HTRA4_HUMAN HtrA serine peptidase 4 NA NA negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558) extracellular region (GO:0005576) endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252) central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1) 11 all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955) LUSC - Lung squamous cell carcinoma(45;1.5e-07) TTAAAGTGGGATTATCTAAAA 0.333 NA A||| 2297 0.458666 0.3192 0.5245 5008 , , NA 17105 0.753 NA 0.4354 False NA ,,, NA NA NA 2504 0.3211 NA NA NA NA 0 A 1441,2963 258,925,1019 33 31 32 1.8 0 8 dbSNP_130 32 3368,5226 673,2022,1602 no utr-3 HTRA4 NM_153692.3 931,2947,2621 CC,CA,AA 39.1901,32.7203,36.998 38845638 4809,8189 2202 4297 6499 SO:0001624 3_prime_UTR_variant AK075205 CCDS6110.1 8p11.23 2008-02-05 ENSG00000169495 ENSG00000169495 203100 26909 protein-coding gene gene with protein product 610700 NA Standard NM_153692 NM_153692 NA Approved FLJ90724 uc003xmj.3 P83105 OTTHUMG00000164070 ENST00000302495.4:c.*21A>C chr8.hg19:g.38845638A>C NA Q542Z4|Q6PF13 hg19 CCDS6110.1 0.02 13.354063 GGGxTTA COVERED NOVEL HTRA4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000377077.1 0 15.601153 KEEP 0 2 72 77 2398 AA 1 1 0 + 15 60 534 1 0 34.923711 279 60 9635 465 ENST00000302495.4 0.05102 1 HTRA4 203100 __UNKNOWN__ __UNKNOWN__ 8 38845716 38845716 __UNKNOWN__ 3'UTR SNP A A G rs7823125 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:38845716A>G ENST00000302495.4 + 0 1630 NM_153692.3 NP_710159.1 P83105 HTRA4_HUMAN HtrA serine peptidase 4 NA NA negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558) extracellular region (GO:0005576) endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252) central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1) 11 all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955) LUSC - Lung squamous cell carcinoma(45;1.5e-07) AAGTTTTTGGATCTTTTTCTT 0.328 NA A||| 2286 0.45647 0.3116 0.5245 5008 , , NA 20720 0.752 NA 0.4354 False NA ,,, NA NA NA 2504 0.3211 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK075205 CCDS6110.1 8p11.23 2008-02-05 ENSG00000169495 ENSG00000169495 203100 26909 protein-coding gene gene with protein product 610700 NA Standard NM_153692 NM_153692 NA Approved FLJ90724 uc003xmj.3 P83105 OTTHUMG00000164070 ENST00000302495.4:c.*99A>G chr8.hg19:g.38845716A>G NA Q542Z4|Q6PF13 hg19 CCDS6110.1 0.02 13.17984 TGGxTCT COVERED NOVEL HTRA4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000377077.1 8 30.725918 KEEP 0 1 34 114 3593 AA 1 1 0 + 11 60 413 0 0 25.525565 325 70 11777 603 ENST00000302495.4 0.032738 1 TM2D2 83877 __UNKNOWN__ __UNKNOWN__ 8 38853269 38853269 __UNKNOWN__ Intron SNP C C T rs7006414 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:38853269C>T ENST00000456397.2 - 2 321 TM2D2_ENST00000522434.1_Intron|TM2D2_ENST00000456845.2_Intron|TM2D2_ENST00000412303.1_5'UTR|TM2D2_ENST00000397070.2_5'UTR NM_078473.2 NP_510882.1 Q9BX73 TM2D2_HUMAN TM2 domain containing 2 NA NA integral component of membrane (GO:0016021) breast(1)|endometrium(1)|large_intestine(2)|lung(2) 6 all_lung(54;0.00338)|Lung NSC(58;0.0133)|Hepatocellular(245;0.0153) LUSC - Lung squamous cell carcinoma(45;1.5e-07) TCCCAAATGCCTTTTCTTGTT 0.378 NA C||| 2278 0.454872 0.3033 0.5274 5008 , , NA 21144 0.747 NA 0.4414 False NA ,,, NA NA NA 2504 0.3211 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF353991 CCDS6111.1, CCDS43733.1 8p11.23 2005-08-09 ENSG00000169490 83877 24127 protein-coding gene gene with protein product 610081 NA 11278849 Standard NM_031940 XM_005273657 NA Approved BLP1 uc003xmk.3 Q9BX73 ENST00000456397.2:c.228-345G>A chr8.hg19:g.38853269C>T NA B2RBK4|D3DSX8|Q8N0X9 hg19 CCDS6111.1 0.02 6.985724 TGCxTTT COVERED NOVEL TM2D2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000377280.1 1 31.603276 KEEP 0 0 0 105 3786 CC 1 1 0 - 14 60 522 0 0 38.386915 143 60 5450 341 ENST00000456397.2 0.089172 1 TM2D2 83877 __UNKNOWN__ __UNKNOWN__ 8 38853620 38853620 __UNKNOWN__ Intron SNP G G A rs6991968 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:38853620G>A ENST00000456397.2 - 1 321 TM2D2_ENST00000522434.1_Intron|TM2D2_ENST00000456845.2_Intron|TM2D2_ENST00000412303.1_Intron|TM2D2_ENST00000397070.2_Intron NM_078473.2 NP_510882.1 Q9BX73 TM2D2_HUMAN TM2 domain containing 2 NA NA integral component of membrane (GO:0016021) breast(1)|endometrium(1)|large_intestine(2)|lung(2) 6 all_lung(54;0.00338)|Lung NSC(58;0.0133)|Hepatocellular(245;0.0153) LUSC - Lung squamous cell carcinoma(45;1.5e-07) AACGACCTCAGAGAGGCAGGG 0.547 NA G||| 2431 0.485423 0.4175 0.5317 5008 , , NA 17902 0.747 NA 0.4404 False NA ,,, NA NA NA 2504 0.3211 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF353991 CCDS6111.1, CCDS43733.1 8p11.23 2005-08-09 ENSG00000169490 83877 24127 protein-coding gene gene with protein product 610081 NA 11278849 Standard NM_031940 XM_005273657 NA Approved BLP1 uc003xmk.3 Q9BX73 ENST00000456397.2:c.227+111C>T chr8.hg19:g.38853620G>A NA B2RBK4|D3DSX8|Q8N0X9 hg19 CCDS6111.1 0.02 3.895516 TCAxAGA COVERED NOVEL TM2D2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000377280.1 3 15.987302 KEEP 0 1 34 65 2309 GG 1 1 0 - 9 60 321 0 0 21.723797 137 60 5029 224 ENST00000456397.2 0.061644 1 TM2D2 83877 __UNKNOWN__ __UNKNOWN__ 8 38853983 38853983 __UNKNOWN__ 5'UTR SNP C C A rs7840270 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:38853983C>A ENST00000456397.2 - 0 69 TM2D2_ENST00000522434.1_5'UTR|TM2D2_ENST00000456845.2_5'UTR|TM2D2_ENST00000412303.1_5'UTR|TM2D2_ENST00000397070.2_5'UTR NM_078473.2 NP_510882.1 Q9BX73 TM2D2_HUMAN TM2 domain containing 2 NA NA integral component of membrane (GO:0016021) breast(1)|endometrium(1)|large_intestine(2)|lung(2) 6 all_lung(54;0.00338)|Lung NSC(58;0.0133)|Hepatocellular(245;0.0153) LUSC - Lung squamous cell carcinoma(45;1.5e-07) GAGCGGAGACCCGGCCTCAAC 0.627 NA C||| 2113 0.421925 0.1846 0.5144 5008 , , NA 15500 0.751 NA 0.4384 False NA ,,, NA NA NA 2504 0.3211 NA NA NA NA 0 C ,,, 966,3440 361.6+/-315.8 129,708,1366 38 39 39 ,,, 3.9 0 8 dbSNP_116 39 3426,5174 501.8+/-375.5 695,2036,1569 no utr-5,utr-5,utr-5,utr-5 TM2D2 NM_001024380.1,NM_001024381.1,NM_031940.3,NM_078473.2 ,,, 824,2744,2935 AA,AC,CC 39.8372,21.9246,33.769 ,,, ,,, 38853983 4392,8614 2203 4300 6503 SO:0001623 5_prime_UTR_variant AF353991 CCDS6111.1, CCDS43733.1 8p11.23 2005-08-09 ENSG00000169490 83877 24127 protein-coding gene gene with protein product 610081 NA 11278849 Standard NM_031940 XM_005273657 NA Approved BLP1 uc003xmk.3 Q9BX73 ENST00000456397.2:c.-25G>T chr8.hg19:g.38853983C>A NA B2RBK4|D3DSX8|Q8N0X9 hg19 CCDS6111.1 0.02 18.385675 GACxCGG COVERED NOVEL TM2D2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000377280.1 2 70.016899 KEEP 0 3 86 263 9332 CC 1 1 0 - 29 60 1009 0 0 68.557965 405 60 14717 899 ENST00000456397.2 0.06682 1 ADAM9 8754 __UNKNOWN__ __UNKNOWN__ 8 38913263 38913263 __UNKNOWN__ Silent SNP T T C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:38913263T>C ENST00000487273.2 + 14 1641 c.1563T>C c.(1561-1563)gaT>gaC p.D521D NM_003816.2 NP_003807.1 Q13443 ADAM9_HUMAN ADAM metallopeptidase domain 9 521 Cys-rich. NA activation of MAPKK activity (GO:0000186)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to lipopolysaccharide (GO:0071222)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein secretion (GO:0050714)|response to calcium ion (GO:0051592)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to laminar fluid shear stress (GO:0034616)|response to manganese ion (GO:0010042)|response to tumor necrosis factor (GO:0034612)|transforming growth factor beta receptor signaling pathway (GO:0007179) basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233) collagen binding (GO:0005518)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein kinase C binding (GO:0005080)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153) LUSC - Lung squamous cell carcinoma(45;2.74e-07) AGTATTATGATGCTCAATGTC 0.323 NA NA NA NA NA NA NA NA NA NA NA 0 129 113 119 NA NA 8 NA 38913263 2203 4300 6503 SO:0001819 synonymous_variant U41766 CCDS6112.1 8p11.23 2011-03-18 2010-06-24 ENSG00000168615 ENSG00000168615 8754 ADAM metallopeptidase domain containing 216 protein-coding gene gene with protein product meltrin gamma 602713 a disintegrin and metalloproteinase domain 9 (meltrin gamma), cone rod dystrophy 9 CORD9 NA 8647900, 11581183, 19409519 Standard NR_027638 NA Approved MDC9, KIAA0021, MCMP, Mltng uc003xmr.3 Q13443 OTTHUMG00000159783 ENST00000487273.2:c.1563T>C chr8.hg19:g.38913263T>C NA B7ZLN7|Q10718|Q8NFM6 hg19 CCDS6112.1 0.02 10.493867 TGAxGCT COVERED NOVEL ADAM9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000357291.2 2 15.346272 KEEP 0 0 0 51 1633 TT 1 1 0 + 14 60 460 0 0 27.871185 299 60 10998 413 ENST00000487273.2 0.044728 1 ZMAT4 79698 __UNKNOWN__ __UNKNOWN__ 8 40389823 40389823 __UNKNOWN__ Intron SNP C C A rs1429965 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:40389823C>A ENST00000297737.6 - 7 821 ZMAT4_ENST00000315769.7_Intron NM_024645.2 NP_078921.1 Q9H898 ZMAT4_HUMAN zinc finger, matrin-type 4 NA NA nucleus (GO:0005634) DNA binding (GO:0003677)|zinc ion binding (GO:0008270) NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 18 Ovarian(28;0.00724)|Colorectal(14;0.0468) all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152) LUSC - Lung squamous cell carcinoma(45;0.00722) ACCTCTTTCTCCCCCCCACCC 0.363 NA C||| 1217 0.243011 0.3805 0.1095 5008 , , NA 14632 0.2173 NA 0.0994 False NA ,,, NA NA NA 2504 0.3262 NA NA NA NA 0 - , 496,888 91,314,287 160 160 160 , NA 0 8 dbSNP_88 160 372,2810 23,326,1242 no intron,intron ZMAT4 NM_001135731.1,NM_024645.2 , 114,640,1529 AA,AC,CC 11.6908,35.8382,19.0101 , , 40389823 868,3698 692 1591 2283 SO:0001627 intron_variant AK023904 CCDS34885.1, CCDS47848.1 8p11.21 2012-10-05 2010-09-15 ENSG00000165061 ENSG00000165061 79698 Zinc fingers, matrin-type 25844 protein-coding gene gene with protein product NA 12477932 Standard NM_024645 NM_024645 NA Approved FLJ13842 uc003xnr.3 Q9H898 OTTHUMG00000164049 ENST00000297737.6:c.675-66G>T chr8.hg19:g.40389823C>A NA Q8WUT8 hg19 CCDS34885.1 0.02 11.846037 TCTxCCC COVERED NOVEL ZMAT4-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000376950.1 1 14.746817 KEEP 0 0 0 49 1718 CC 1 1 0 - 15 60 408 0 0 20.923345 360 60 13262 524 ENST00000297737.6 0.04 1 SFRP1 6422 __UNKNOWN__ __UNKNOWN__ 8 41121768 41121768 __UNKNOWN__ 3'UTR SNP C C G rs10088390 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:41121768C>G ENST00000379845.3 - 0 1587 SFRP1_ENST00000220772.3_3'UTR Q8N474 SFRP1_HUMAN secreted frizzled-related protein 1 NA NA bone trabecula formation (GO:0060346)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to BMP stimulus (GO:0071773)|cellular response to estradiol stimulus (GO:0071392)|cellular response to estrogen stimulus (GO:0071391)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to prostaglandin E stimulus (GO:0071380)|cellular response to starvation (GO:0009267)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vitamin D (GO:0071305)|cellular response to X-ray (GO:0071481)|convergent extension involved in somitogenesis (GO:0090246)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral axis specification (GO:0009950)|female gonad development (GO:0008585)|gonad development (GO:0008406)|hematopoietic progenitor cell differentiation (GO:0002244)|hematopoietic stem cell differentiation (GO:0060218)|male gonad development (GO:0008584)|menstrual cycle phase (GO:0022601)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of bone remodeling (GO:0046851)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation (GO:2000080)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of planar cell polarity pathway involved in axis elongation (GO:2000041)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|negative regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000054)|neural crest cell fate commitment (GO:0014034)|neural tube closure (GO:0001843)|osteoblast differentiation (GO:0001649)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of non-canonical Wnt signaling pathway (GO:2000052)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|proteolysis (GO:0006508)|regulation of angiogenesis (GO:0045765)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell cycle process (GO:0010564)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|somatic stem cell maintenance (GO:0035019)|stromal-epithelial cell signaling involved in prostate gland development (GO:0044345)|ureteric bud development (GO:0001657)|vasculature development (GO:0001944)|Wnt signaling pathway involved in somitogenesis (GO:0090244) cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578) cysteine-type endopeptidase activity (GO:0004197)|drug binding (GO:0008144)|frizzled binding (GO:0005109)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147) breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1) 7 Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211) all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559) BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174) GATTAGAATCCTAAGCTCTTC 0.299 NA C||| 1587 0.316893 0.5038 0.2378 5008 , , NA 20564 0.3819 NA 0.0577 False NA ,,, NA NA NA 2504 0.32 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF017987 CCDS34886.1 8p11.21 2006-12-15 ENSG00000104332 ENSG00000104332 6422 Secreted frizzled-related proteins 10776 protein-coding gene gene with protein product 604156 NA 9391078, 9192640 Standard NM_003012 NM_003012 NA Approved SARP2, FRP, FRP-1 uc003xnt.3 Q8N474 OTTHUMG00000164074 ENST00000379845.3:c.*918G>C chr8.hg19:g.41121768C>G NA O00546|O14779 hg19 0.02 6.285047 ATCxTAA COVERED NOVEL SFRP1-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000377133.1 2 14.130266 KEEP 0 0 0 47 1655 CC 1 1 0 - 7 60 231 0 0 13.645229 173 60 6434 275 ENST00000379845.3 0.038889 1 SFRP1 6422 __UNKNOWN__ __UNKNOWN__ 8 41132742 41132742 __UNKNOWN__ Intron SNP A A T rs6998772 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:41132742A>T ENST00000379845.3 - 3 347 CTD-3080F16.3_ENST00000517495.1_RNA|SFRP1_ENST00000220772.3_Intron Q8N474 SFRP1_HUMAN secreted frizzled-related protein 1 NA NA bone trabecula formation (GO:0060346)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to BMP stimulus (GO:0071773)|cellular response to estradiol stimulus (GO:0071392)|cellular response to estrogen stimulus (GO:0071391)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to prostaglandin E stimulus (GO:0071380)|cellular response to starvation (GO:0009267)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vitamin D (GO:0071305)|cellular response to X-ray (GO:0071481)|convergent extension involved in somitogenesis (GO:0090246)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral axis specification (GO:0009950)|female gonad development (GO:0008585)|gonad development (GO:0008406)|hematopoietic progenitor cell differentiation (GO:0002244)|hematopoietic stem cell differentiation (GO:0060218)|male gonad development (GO:0008584)|menstrual cycle phase (GO:0022601)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of bone remodeling (GO:0046851)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation (GO:2000080)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of planar cell polarity pathway involved in axis elongation (GO:2000041)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|negative regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000054)|neural crest cell fate commitment (GO:0014034)|neural tube closure (GO:0001843)|osteoblast differentiation (GO:0001649)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of non-canonical Wnt signaling pathway (GO:2000052)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|proteolysis (GO:0006508)|regulation of angiogenesis (GO:0045765)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell cycle process (GO:0010564)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|somatic stem cell maintenance (GO:0035019)|stromal-epithelial cell signaling involved in prostate gland development (GO:0044345)|ureteric bud development (GO:0001657)|vasculature development (GO:0001944)|Wnt signaling pathway involved in somitogenesis (GO:0090244) cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578) cysteine-type endopeptidase activity (GO:0004197)|drug binding (GO:0008144)|frizzled binding (GO:0005109)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147) breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1) 7 Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211) all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559) BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174) GAGCTTTATGATTCATACAGC 0.507 NA T||| 1341 0.267772 0.3306 0.219 5008 , , NA 14631 0.381 NA 0.0557 False NA ,,, NA NA NA 2504 0.319 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF017987 CCDS34886.1 8p11.21 2006-12-15 ENSG00000104332 ENSG00000104332 6422 Secreted frizzled-related proteins 10776 protein-coding gene gene with protein product 604156 NA 9391078, 9192640 Standard NM_003012 NM_003012 NA Approved SARP2, FRP, FRP-1 uc003xnt.3 Q8N474 OTTHUMG00000164074 ENST00000379845.3:c.215-9734T>A chr8.hg19:g.41132742A>T NA O00546|O14779 hg19 0.02 16.662281 ATGxTTC COVERED 469 0.21474358974358973 163 0.3313008130081301 67 0.1850828729281768 198 0.34615384615384615 41 0.05408970976253298 T 3.659 -0.069875 0.07228 . . ENSG00000253509 ENST00000517495 . . . 2.96 -1.51 0.08664 . . . . . T 0.00012 0.0000 . . . 0.80722 P 0.0 . . . . . . T 0.35919 -0.9769 4 0.87932 D 0 . 0.2359 0.00186 0.3383:0.2572:0.1666:0.2379 rs6998772;rs60074690;rs6998772 . . . T 43 . ENSP00000429981:S43T S - 1 0 CTD-3080F16.3 41251899 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -0.469000 0.06648 -0.700000 0.05070 -2.352000 0.00242 TCA NOVEL SFRP1-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000377133.1 2 17.451502 KEEP 0 0 0 58 1805 AA 1 1 0 - 19 60 676 0 0 42.745209 418 60 15482 590 ENST00000379845.3 0.043478 1 ANK1 286 __UNKNOWN__ __UNKNOWN__ 8 41581183 41581183 __UNKNOWN__ Intron SNP G G A rs181291172 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:41581183G>A ENST00000289734.7 - 8 795 ANK1_ENST00000396942.1_Intron|ANK1_ENST00000396945.1_Intron|ANK1_ENST00000379758.2_Intron|ANK1_ENST00000352337.4_Intron|ANK1_ENST00000265709.8_Intron|ANK1_ENST00000347528.4_Intron NM_000037.3 NP_000028.3 P16157 ANK1_HUMAN ankyrin 1, erythrocytic NA NA axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165) axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018) ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198) breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) GTCAGGGCGCGTCATCCTTCC 0.642 NA g||| 20 0.00399361 0.0 0.0 5008 , , NA 12074 0.0198 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 53 34 41 NA NA 8 NA 41581183 2203 4300 6503 SO:0001627 intron_variant M28880 CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1 8p11.21 2013-01-10 ENSG00000029534 ENSG00000029534 286 Ankyrin repeat domain containing 492 protein-coding gene gene with protein product 612641 ANK NA 1689849 Standard NM_020475 NM_001142445 NA Approved SPH1 uc003xom.3 P16157 OTTHUMG00000150281 ENST00000289734.7:c.712-32C>T chr8.hg19:g.41581183G>A NA A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407 hg19 CCDS6121.1 0.02 1.954722 CGCxTCA COVERED NOVEL ANK1-002 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000317298.1 1 6.320593 KEEP 0 0 0 21 735 GG 0.999869 0.999788 0 - 8 60 295 0 0 21.401522 87 60 3097 136 ENST00000289734.7 0.084211 0.999919 AP3M2 10947 __UNKNOWN__ __UNKNOWN__ 8 42028537 42028537 __UNKNOWN__ 3'UTR SNP T T C rs1050275 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:42028537T>C ENST00000518421.1 + 0 3506 AP3M2_ENST00000174653.3_3'UTR|AP3M2_ENST00000396926.3_3'UTR NM_001134296.1 NP_001127768.1 P53677 AP3M2_HUMAN adaptor-related protein complex 3, mu 2 subunit NA NA anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886) AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794) endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1) 17 all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211) all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983) BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024) TCCTGTCACATGTGCAGCAGG 0.502 NA T||| 980 0.195687 0.0189 0.3069 5008 , , NA 21518 0.2788 NA 0.2843 False NA ,,, NA NA NA 2504 0.1789 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D38293 CCDS6125.1 8p11.2 2008-07-07 ENSG00000070718 ENSG00000070718 10947 570 protein-coding gene gene with protein product 610469 NA 7601449 Standard NM_006803 NA Approved CLA20, AP47B uc003xoo.3 P53677 OTTHUMG00000164060 ENST00000518421.1:c.*1958T>C chr8.hg19:g.42028537T>C NA B2RCR0|D3DSY2|Q7Z472 hg19 CCDS6125.1 0.02 8.495403 ACAxGTG COVERED NOVEL AP3M2-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000376996.1 0 15.947083 KEEP 0 0 0 53 1633 TT 1 1 0 + 12 60 425 0 0 27.936636 211 60 7722 342 ENST00000518421.1 0.053812 1 SLC20A2 6575 __UNKNOWN__ __UNKNOWN__ 8 42323224 42323224 __UNKNOWN__ Intron SNP T T A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:42323224T>A ENST00000342228.3 - 3 800 SLC20A2_ENST00000520262.1_Intron|SLC20A2_ENST00000520179.1_Intron NM_006749.4 NP_006740.1 Q08357 S20A2_HUMAN solute carrier family 20 (phosphate transporter), member 2 NA NA ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|viral process (GO:0016032) extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886) inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|sodium:phosphate symporter activity (GO:0005436)|virus receptor activity (GO:0001618) breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1) 26 all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211) all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869) aaaaaaaaaGTAACTTGTAAT 0.433 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS6132.1 8p11.21 2013-05-22 ENSG00000168575 ENSG00000168575 6575 Solute carriers 10947 protein-coding gene gene with protein product 158378 MLVAR, GLVR2 NA 7745689, 16790504 Standard NM_001257180 NA Approved PiT-2, Glvr-2 uc010lxm.4 Q08357 OTTHUMG00000164169 ENST00000342228.3:c.430+70A>T chr8.hg19:g.42323224T>A NA hg19 CCDS6132.1 0.02 1.740828 AAGxAAC COVERED NOVEL SLC20A2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000377578.1 0 3.544591 KEEP 0 4 37 26 625 TT 0.999997 0.999993 0 - 20 70 215 0 0 8.956086 91 60 2538 167 ENST00000342228.3 0.18018 0.999995 HGSNAT 138050 __UNKNOWN__ __UNKNOWN__ 8 43000187 43000187 __UNKNOWN__ Intron SNP T T C rs1129987 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:43000187T>C ENST00000379644.4 + 2 160 HGSNAT_ENST00000458501.2_Intron NM_152419.2 NP_689632.2 Q68CP4 HGNAT_HUMAN heparan-alpha-glucosaminide N-acetyltransferase NA NA carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lysosomal transport (GO:0007041)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281) integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765) heparan-alpha-glucosaminide N-acetyltransferase activity (GO:0015019)|transferase activity, transferring acyl groups (GO:0016746) cervix(1)|endometrium(2)|large_intestine(4)|lung(6) 13 Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184) all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17) GTATGCAGCCTCACAGCTAAG 0.443 NA T||| 3443 0.6875 0.41 0.745 5008 , , NA 19350 0.7976 NA 0.8837 False NA ,,, NA NA NA 2504 0.7065 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS47852.1 8p11.1 2011-11-16 2006-09-05 2006-08-16 ENSG00000165102 ENSG00000165102 138050 2.3.1.78 26527 protein-coding gene gene with protein product 610453 transmembrane protein 76 TMEM76 NA 17033958, 16960811 Standard XM_372038 NM_152419 NA Approved FLJ32731, HGNAT uc003xpx.4 Q68CP4 OTTHUMG00000164102 ENST00000379644.4:c.119-1904T>C chr8.hg19:g.43000187T>C NA B4E2V0 hg19 CCDS47852.1 0.02 10.721632 GCCxCAC COVERED NOVEL HGSNAT-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000377293.1 2 18.356591 KEEP 0 0 0 61 1976 TT 1 1 0 + 17 60 616 0 0 42.657759 236 60 8666 395 ENST00000379644.4 0.067194 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 43793847 43793847 __UNKNOWN__ IGR SNP T T A rs8185976 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:43793847T>A NA NA AC134698.1 (377931 upstream) : None (None downstream) NA NA NA aaacactctttttgtagtatc 0.403 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr8.hg19:g.43793847T>A NA hg19 0.02 1.883736 CTTxTTG COVERED NOVEL 0 13 4.247774 KEEP 67 1 31 25 829 TT 0.99986 0.996584 0 18 22 570 0 0 60.953152 4 22 142 227 0.818182 0.996724 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 43822425 43822425 __UNKNOWN__ IGR SNP T T C rs200336493 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:43822425T>C NA NA AC134698.1 (406509 upstream) : None (None downstream) NA NA NA agtggatatttggatagattt 0.368 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr8.hg19:g.43822425T>C NA hg19 0.02 4.217499 ATTxGGA COVERED NOVEL 0 112 15.411883 KEEP 125 2 71 76 2356 TT 1 1 0 14 44 510 0 0 42.092678 60 45 2176 417 0.189189 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 46841741 46841741 __UNKNOWN__ IGR SNP C C A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:46841741C>A NA NA None (None upstream) : RNU6-656P (900930 downstream) NA NA NA acttctggaacactctttttg 0.388 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr8.hg19:g.46841741C>A NA hg19 0.02 4.240619 GAAxACT COVERED NOVEL 0 7 7.524542 KEEP 39 0 0 25 884 CC 0.99649 0.996489 0 6 23 211 0 0 13.879574 103 45 3851 226 0.055046 0.999999 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 46841772 46841772 __UNKNOWN__ IGR SNP T T C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:46841772T>C NA NA None (None upstream) : RNU6-656P (900899 downstream) NA NA NA atgcggatatttggatagctt 0.403 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr8.hg19:g.46841772T>C NA hg19 0.02 5.104184 TATxTGG COVERED NOVEL 0 7 8.425574 KEEP 29 0 0 28 907 TT 0.99986 0.999859 0 6 24 232 0 0 15.879981 107 60 3919 230 0.053097 0.999999 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 46844208 46844208 __UNKNOWN__ IGR SNP A A C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:46844208A>C NA NA None (None upstream) : RNU6-656P (898463 downstream) NA NA NA agacagaagcattctgagaat 0.403 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr8.hg19:g.46844208A>C NA hg19 0.02 4.038091 AGCxTTC COVERED NOVEL 0 11 3.176653 KEEP 60 2 58 31 971 AA 0.999366 0.999356 0 5 21 168 0 0 10.59543 94 40 3456 225 0.050505 0.999989 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 46844284 46844284 __UNKNOWN__ IGR SNP C C A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:46844284C>A NA NA None (None upstream) : RNU6-656P (898387 downstream) NA NA NA cagttttgaaccacacttttt 0.383 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr8.hg19:g.46844284C>A NA hg19 0.02 4.689115 GAAxCAC COVERED NOVEL 0 20 3.518982 KEEP 109 3 104 48 1704 CC 0.993634 0.993602 0 7 22 249 0 0 17.457076 86 24 3176 289 0.075269 0.999968 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 46852494 46852494 __UNKNOWN__ IGR SNP C C T rs4344094 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:46852494C>T NA NA None (None upstream) : RNU6-656P (890177 downstream) NA NA NA ttcaggcctacggtgaaaaag 0.403 NA .||| 2432 0.485623 0.4175 0.4769 5008 , , NA 1083142 0.4901 NA 0.5417 False NA ,,, NA NA NA 2504 0.5215 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr8.hg19:g.46852494C>T NA hg19 0.02 2.232121 CTAxGGT COVERED NOVEL 0 41 13.177119 KEEP 37 1 29 54 1917 CC 1 0.967425 0 4 24 149 0 0 14.767122 3 45 84 201 0.571429 0.967425 PXDNL 137902 __UNKNOWN__ __UNKNOWN__ 8 52321843 52321843 __UNKNOWN__ Missense_Mutation SNP G G C rs11992240 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:52321843G>C ENST00000356297.4 - 17 2441 c.2341C>G c.(2341-2343)Cgg>Ggg p.R781G PXDNL_ENST00000543296.1_Missense_Mutation_p.R781G NM_144651.4 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 781 NA R -> G (in Ref. 4; BAD18663). {ECO:0000305}. hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114) cytoplasm (GO:0005737)|extracellular space (GO:0005615) endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601) NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) GCGACCAGCCGGGGCGGCGGG 0.746 NA G||| 704 0.140575 0.1241 0.0735 5008 , , NA 8329 0.2768 NA 0.0895 False NA ,,, NA NA NA 2504 0.1227 NA NA NA NA 0 G GLY/ARG 295,2709 13,269,1220 4 4 4 2341 2.4 0.1 8 dbSNP_120 4 438,6260 13,412,2924 no missense PXDNL NM_144651.4 125 26,681,4144 CC,CG,GG 6.5393,9.8202,7.5551 probably-damaging 781/1464 52321843 733,8969 1502 3349 4851 SO:0001583 missense CCDS47855.1 8q11.21-q11.22 2013-02-18 2007-01-12 ENSG00000147485 ENSG00000147485 137902 Immunoglobulin superfamily / I-set domain containing 26359 protein-coding gene gene with protein product polysomal ribonuclease 1 homolog (Xenopus) 615904 peroxidasin homolog-like (Drosophila) NA 22543864 Standard NM_144651 NM_144651 NA Approved FLJ25471, PMR1 uc003xqu.4 A1KZ92 OTTHUMG00000164244 ENST00000356297.4:c.2341C>G chr8.hg19:g.52321843G>C ENSP00000348645:p.Arg781Gly NA B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9 hg19 CCDS47855.1 0.02 15.247205 GCCxGGG COVERED 333 0.15247252747252749 81 0.16463414634146342 29 0.08011049723756906 152 0.26573426573426573 71 0.09366754617414248 G 14.76 2.632963 0.47049 0.098202 0.065393 ENSG00000147485 ENST00000356297;ENST00000543296 T;T 0.72505 -0.66;-0.66 3.62 2.44 0.29823 . . . . . T 0.00073 0.0002 H 0.99104 4.43 0.37278 P 0.09228000000000003 D 0.89917 1.0 D 0.97110 1.0 T 0.07849 -1.0751 8 0.87932 D 0 . 8.0524 0.30585 0.0:0.0:0.4354:0.5646 rs11992240 781 A1KZ92 PXDNL_HUMAN G 781 ENSP00000348645:R781G;ENSP00000444865:R781G ENSP00000348645:R781G R - 1 2 PXDNL 52484396 0.660000 0.27420 0.096000 0.21009 0.007000 0.05969 0.459000 0.21908 0.396000 0.25283 -0.516000 0.04426 CGG NOVEL PXDNL-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000377905.1 4 20.766978 KEEP 0 0 0 69 2407 GG 1 1 0 - 11 60 398 0 0 23.42435 370 60 13229 539 ENST00000356297.4 0.028871 1 PCMTD1 115294 __UNKNOWN__ __UNKNOWN__ 8 52731564 52731564 __UNKNOWN__ 3'UTR SNP T T C rs113180269 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:52731564T>C ENST00000360540.5 - 0 2827 PCMTD1_ENST00000544451.1_3'UTR NM_052937.2 NP_443169.2 Q96MG8 PCMD1_HUMAN protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 NA NA cytoplasm (GO:0005737) protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719) NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1) 37 Lung NSC(129;0.0795)|all_lung(136;0.144) ATATGTTACATTGTACACTTT 0.318 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS6148.1, CCDS69480.1 8q11.23 2010-08-05 ENSG00000168300 ENSG00000168300 115294 30483 protein-coding gene gene with protein product NA Standard NM_052937 XM_005251146 NA Approved FLJ10883 uc003xqx.4 Q96MG8 OTTHUMG00000164246 ENST00000360540.5:c.*1347A>G chr8.hg19:g.52731564T>C NA Q96FK9 hg19 CCDS6148.1 0.02 16.197323 ACAxTGT COVERED NOVEL PCMTD1-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000377909.2 6 6.589334 KEEP 2 2 72 47 1478 TT 1 1 0 - 15 60 574 0 0 38.165476 310 60 11347 507 ENST00000360540.5 0.046154 1 PCMTD1 115294 __UNKNOWN__ __UNKNOWN__ 8 52732917 52732917 __UNKNOWN__ Silent SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:52732917G>A ENST00000360540.5 - 7 1474 c.1068C>T c.(1066-1068)gaC>gaT p.D356D PCMTD1_ENST00000544451.1_Silent_p.D280D|PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000522514.1_Silent_p.D356D NM_052937.2 NP_443169.2 Q96MG8 PCMD1_HUMAN protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 356 NA cytoplasm (GO:0005737) protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719) NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1) 37 Lung NSC(129;0.0795)|all_lung(136;0.144) TAAGTTATTTGTCTCTAAAAT 0.333 NA NA NA NA NA NA NA NA NA NA NA 0 38 39 39 NA NA 8 NA 52732917 2200 4297 6497 SO:0001819 synonymous_variant CCDS6148.1, CCDS69480.1 8q11.23 2010-08-05 ENSG00000168300 ENSG00000168300 115294 30483 protein-coding gene gene with protein product NA Standard NM_052937 XM_005251146 NA Approved FLJ10883 uc003xqx.4 Q96MG8 OTTHUMG00000164246 ENST00000360540.5:c.1068C>T chr8.hg19:g.52732917G>A NA Q96FK9 hg19 CCDS6148.1 0.02 8.77447 TTTxTCT COVERED NOVEL PCMTD1-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000377909.2 0 9.631416 KEEP 1 0 0 32 1127 GG 0.999997 0.999997 0 - 10 48 370 0 0 24.360644 198 60 7434 280 ENST00000360540.5 0.048077 1 PCMTD1 115294 __UNKNOWN__ __UNKNOWN__ 8 52732958 52732958 __UNKNOWN__ Missense_Mutation SNP G G A rs200497338 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:52732958G>A ENST00000360540.5 - 7 1433 c.1027C>T c.(1027-1029)Ctc>Ttc p.L343F PCMTD1_ENST00000544451.1_Missense_Mutation_p.L267F|PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000522514.1_Missense_Mutation_p.L343F NM_052937.2 NP_443169.2 Q96MG8 PCMD1_HUMAN protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 343 NA cytoplasm (GO:0005737) protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719) p.L343F(2) NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1) 37 Lung NSC(129;0.0795)|all_lung(136;0.144) GATTCAGGGAGGGGCAGCTTC 0.353 NA NA NA NA NA NA NA NA NA NA NA 2 Substitution - Missense(2) NS(1)|skin(1) 68 66 67 NA NA 8 NA 52732958 2203 4300 6503 SO:0001583 missense CCDS6148.1, CCDS69480.1 8q11.23 2010-08-05 ENSG00000168300 ENSG00000168300 115294 30483 protein-coding gene gene with protein product NA Standard NM_052937 XM_005251146 NA Approved FLJ10883 uc003xqx.4 Q96MG8 OTTHUMG00000164246 ENST00000360540.5:c.1027C>T chr8.hg19:g.52732958G>A ENSP00000353739:p.Leu343Phe NA Q96FK9 hg19 CCDS6148.1 0.02 5.909767 GGAxGGG COVERED . . . . . . . . . . G 21.3 4.121602 0.77436 . . ENSG00000168300 ENST00000360540;ENST00000544451;ENST00000522514 T;T;T 0.65732 0.54;-0.17;0.54 6.07 6.07 0.98685 . 0.000000 0.85682 D 0.000000 T 0.77942 0.4206 M 0.71036 2.16 0.80722 D 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.91635 0.963;0.999;0.991 T 0.79065 -0.1956 10 0.87932 D 0 -13.4429 14.2203 0.65823 0.0761:0.0:0.9239:0.0 . 213;267;343 B4E2B4;F5H1M8;Q96MG8 .;.;PCMD1_HUMAN F 343;267;343 ENSP00000353739:L343F;ENSP00000444026:L267F;ENSP00000428099:L343F ENSP00000353739:L343F L - 1 0 PCMTD1 52895511 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 4.583000 0.60964 2.885000 0.99019 0.655000 0.94253 CTC NOVEL PCMTD1-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000377909.2 0 6.320373 KEEP 2 0 0 21 743 GG 0.999869 0.999869 0 - 8 49 278 0 0 17.208342 183 60 6823 240 ENST00000360540.5 0.041885 1 PCMTD1 115294 __UNKNOWN__ __UNKNOWN__ 8 52733003 52733003 __UNKNOWN__ Missense_Mutation SNP C C T rs79195845 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:52733003C>T ENST00000360540.5 - 7 1388 c.982G>A c.(982-984)Gag>Aag p.E328K PCMTD1_ENST00000544451.1_Missense_Mutation_p.E252K|PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000522514.1_Missense_Mutation_p.E328K NM_052937.2 NP_443169.2 Q96MG8 PCMD1_HUMAN protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 328 NA cytoplasm (GO:0005737) protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719) NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1) 37 Lung NSC(129;0.0795)|all_lung(136;0.144) TGAGGTGGCTCCTCTGGCTTC 0.383 NA NA NA NA NA NA NA NA NA NA NA 0 94 83 86 NA NA 8 NA 52733003 2203 4300 6503 SO:0001583 missense CCDS6148.1, CCDS69480.1 8q11.23 2010-08-05 ENSG00000168300 ENSG00000168300 115294 30483 protein-coding gene gene with protein product NA Standard NM_052937 XM_005251146 NA Approved FLJ10883 uc003xqx.4 Q96MG8 OTTHUMG00000164246 ENST00000360540.5:c.982G>A chr8.hg19:g.52733003C>T ENSP00000353739:p.Glu328Lys NA Q96FK9 hg19 CCDS6148.1 0.02 6.60951 GCTxCTC COVERED . . . . . . . . . . C 15.25 2.777008 0.49786 . . ENSG00000168300 ENST00000360540;ENST00000544451;ENST00000522514 T;T;T 0.47177 1.48;0.85;1.48 5.97 4.17 0.49024 . 0.733162 0.13977 N 0.349755 T 0.32882 0.0844 N 0.21142 0.635 0.45662 D 0.998587 B;P;B 0.42296 0.031;0.775;0.03 B;B;B 0.36464 0.006;0.225;0.021 T 0.03202 -1.1061 10 0.38643 T 0.18 -22.5428 12.1581 0.54089 0.0:0.8075:0.127:0.0655 . 198;252;328 B4E2B4;F5H1M8;Q96MG8 .;.;PCMD1_HUMAN K 328;252;328 ENSP00000353739:E328K;ENSP00000444026:E252K;ENSP00000428099:E328K ENSP00000353739:E328K E - 1 0 PCMTD1 52895556 1.000000 0.71417 1.000000 0.80357 0.991000 0.79684 3.083000 0.50136 0.842000 0.35045 0.655000 0.94253 GAG NOVEL PCMTD1-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000377909.2 0 7.22325 KEEP 2 0 0 24 832 CC 0.999909 0.999909 0 - 10 49 372 0 0 24.896236 183 60 6811 265 ENST00000360540.5 0.051813 1 PCMTD1 115294 __UNKNOWN__ __UNKNOWN__ 8 52733148 52733148 __UNKNOWN__ Silent SNP C C T rs76104220 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:52733148C>T ENST00000360540.5 - 7 1243 c.837G>A c.(835-837)aaG>aaA p.K279K PCMTD1_ENST00000544451.1_Silent_p.K203K|PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000522514.1_Silent_p.K279K NM_052937.2 NP_443169.2 Q96MG8 PCMD1_HUMAN protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 279 NA cytoplasm (GO:0005737) protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719) p.K279K(1) NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1) 37 Lung NSC(129;0.0795)|all_lung(136;0.144) GTTTAACTCTCTTTCTTTTCC 0.403 NA NA NA NA NA NA NA NA NA NA NA 1 Substitution - coding silent(1) kidney(1) 163 167 166 NA NA 8 NA 52733148 2203 4300 6503 SO:0001819 synonymous_variant CCDS6148.1, CCDS69480.1 8q11.23 2010-08-05 ENSG00000168300 ENSG00000168300 115294 30483 protein-coding gene gene with protein product NA Standard NM_052937 XM_005251146 NA Approved FLJ10883 uc003xqx.4 Q96MG8 OTTHUMG00000164246 ENST00000360540.5:c.837G>A chr8.hg19:g.52733148C>T NA Q96FK9 hg19 CCDS6148.1 0.02 8.976728 TCTxTTT COVERED NOVEL PCMTD1-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000377909.2 5 7.153692 KEEP 9 1 35 36 1282 CC 1 1 0 - 21 60 751 0 0 57.348994 152 60 5836 339 ENST00000360540.5 0.121387 1 PCMTD1 115294 __UNKNOWN__ __UNKNOWN__ 8 52733228 52733228 __UNKNOWN__ Missense_Mutation SNP G G A rs73592211 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:52733228G>A ENST00000360540.5 - 7 1163 c.757C>T c.(757-759)Cgc>Tgc p.R253C PCMTD1_ENST00000544451.1_Missense_Mutation_p.R177C|PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000522514.1_Missense_Mutation_p.R253C NM_052937.2 NP_443169.2 Q96MG8 PCMD1_HUMAN protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 253 NA cytoplasm (GO:0005737) protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719) NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1) 37 Lung NSC(129;0.0795)|all_lung(136;0.144) CTAAGTGTGCGTCGAATGTAA 0.373 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense CCDS6148.1, CCDS69480.1 8q11.23 2010-08-05 ENSG00000168300 ENSG00000168300 115294 30483 protein-coding gene gene with protein product NA Standard NM_052937 XM_005251146 NA Approved FLJ10883 uc003xqx.4 Q96MG8 OTTHUMG00000164246 ENST00000360540.5:c.757C>T chr8.hg19:g.52733228G>A ENSP00000353739:p.Arg253Cys NA Q96FK9 hg19 CCDS6148.1 0.02 4.092181 TGCxTCG COVERED . . . . . . . . . . G 20.8 4.044757 0.75732 . . ENSG00000168300 ENST00000360540;ENST00000544451;ENST00000522514 T;T;T 0.47869 1.43;0.83;1.43 5.76 4.89 0.63831 . 0.000000 0.85682 D 0.000000 T 0.62060 0.2397 L 0.60455 1.87 0.80722 D 1 D;B;B 0.89917 1.0;0.333;0.231 P;B;B 0.62184 0.899;0.061;0.081 T 0.64300 -0.6440 10 0.52906 T 0.07 -15.7151 14.8982 0.70659 0.0689:0.0:0.9311:0.0 . 123;177;253 B4E2B4;F5H1M8;Q96MG8 .;.;PCMD1_HUMAN C 253;177;253 ENSP00000353739:R253C;ENSP00000444026:R177C;ENSP00000428099:R253C ENSP00000353739:R253C R - 1 0 PCMTD1 52895781 1.000000 0.71417 0.985000 0.45067 0.970000 0.65996 8.903000 0.92573 1.438000 0.47492 0.650000 0.86243 CGC NOVEL PCMTD1-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000377909.2 1 8.721739 KEEP 3 0 0 29 936 GG 0.999997 0.999997 0 - 16 49 558 0 0 42.384647 114 60 3953 191 ENST00000360540.5 0.123077 1 PCMTD1 115294 __UNKNOWN__ __UNKNOWN__ 8 52733231 52733231 __UNKNOWN__ Nonsense_Mutation SNP G G A rs75748152 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:52733231G>A ENST00000360540.5 - 7 1160 c.754C>T c.(754-756)Cga>Tga p.R252* PCMTD1_ENST00000544451.1_Nonsense_Mutation_p.R176*|PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000522514.1_Nonsense_Mutation_p.R252* NM_052937.2 NP_443169.2 Q96MG8 PCMD1_HUMAN protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 252 NA cytoplasm (GO:0005737) protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719) p.R252*(1) NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1) 37 Lung NSC(129;0.0795)|all_lung(136;0.144) AGTGTGCGTCGAATGTAAATA 0.378 NA NA NA NA NA NA NA NA NA NA NA 1 Substitution - Nonsense(1) skin(1) 61 63 62 NA NA 8 NA 52733231 2203 4300 6503 SO:0001587 stop_gained CCDS6148.1, CCDS69480.1 8q11.23 2010-08-05 ENSG00000168300 ENSG00000168300 115294 30483 protein-coding gene gene with protein product NA Standard NM_052937 XM_005251146 NA Approved FLJ10883 uc003xqx.4 Q96MG8 OTTHUMG00000164246 ENST00000360540.5:c.754C>T chr8.hg19:g.52733231G>A ENSP00000353739:p.Arg252* NA Q96FK9 hg19 CCDS6148.1 0.02 3.537349 GTCxAAT COVERED . . . . . . . . . . G 24.4 4.531859 0.85706 . . ENSG00000168300 ENST00000360540;ENST00000544451;ENST00000522514 . . . 5.77 5.77 0.91146 . 0.000000 0.85682 D 0.000000 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.02654 T 1 -3.1963 14.672 0.68951 0.0:0.0:0.8201:0.1799 . . . . X 252;176;252 . ENSP00000353739:R252X R - 1 2 PCMTD1 52895784 1.000000 0.71417 0.980000 0.43619 0.959000 0.62525 6.706000 0.74649 2.722000 0.93159 0.655000 0.94253 CGA NOVEL PCMTD1-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000377909.2 1 8.726534 KEEP 3 0 0 29 924 GG 0.999997 0.999997 0 - 7 49 245 0 0 16.129294 118 60 4142 187 ENST00000360540.5 0.056 1 PCMTD1 115294 __UNKNOWN__ __UNKNOWN__ 8 52733242 52733242 __UNKNOWN__ Missense_Mutation SNP C C T rs79820636 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:52733242C>T ENST00000360540.5 - 7 1149 c.743G>A c.(742-744)cGt>cAt p.R248H PCMTD1_ENST00000544451.1_Missense_Mutation_p.R172H|PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000522514.1_Missense_Mutation_p.R248H NM_052937.2 NP_443169.2 Q96MG8 PCMD1_HUMAN protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 248 NA cytoplasm (GO:0005737) protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719) NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1) 37 Lung NSC(129;0.0795)|all_lung(136;0.144) AATGTAAATACGAGCCAAGTC 0.368 NA NA NA NA NA NA NA NA NA NA NA 0 54 55 55 NA NA 8 NA 52733242 2203 4300 6503 SO:0001583 missense CCDS6148.1, CCDS69480.1 8q11.23 2010-08-05 ENSG00000168300 ENSG00000168300 115294 30483 protein-coding gene gene with protein product NA Standard NM_052937 XM_005251146 NA Approved FLJ10883 uc003xqx.4 Q96MG8 OTTHUMG00000164246 ENST00000360540.5:c.743G>A chr8.hg19:g.52733242C>T ENSP00000353739:p.Arg248His NA Q96FK9 hg19 CCDS6148.1 0.02 3.898998 ATAxGAG COVERED . . . . . . . . . . C 20.6 4.016324 0.75161 . . ENSG00000168300 ENST00000360540;ENST00000544451;ENST00000522514 T;T;T 0.52057 0.68;0.68;0.68 5.77 5.77 0.91146 . 0.000000 0.85682 D 0.000000 T 0.70937 0.3281 M 0.73962 2.25 0.80722 D 1 P;D;D 0.89917 0.482;1.0;0.998 B;D;P 0.87578 0.032;0.998;0.773 T 0.70687 -0.4803 10 0.52906 T 0.07 . 19.9832 0.97338 0.0:1.0:0.0:0.0 . 118;172;248 B4E2B4;F5H1M8;Q96MG8 .;.;PCMD1_HUMAN H 248;172;248 ENSP00000353739:R248H;ENSP00000444026:R172H;ENSP00000428099:R248H ENSP00000353739:R248H R - 2 0 PCMTD1 52895795 1.000000 0.71417 0.973000 0.42090 0.985000 0.73830 7.046000 0.76592 2.722000 0.93159 0.655000 0.94253 CGT NOVEL PCMTD1-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000377909.2 1 9.329945 KEEP 2 0 0 31 1077 CC 0.999997 0.999997 0 - 8 40 286 0 0 19.57297 115 60 3937 195 ENST00000360540.5 0.065041 1 RB1CC1 9821 __UNKNOWN__ __UNKNOWN__ 8 53586706 53586706 __UNKNOWN__ Missense_Mutation SNP A A G rs17337252 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:53586706A>G ENST00000025008.5 - 7 1224 c.701T>C c.(700-702)aTg>aCg p.M234T RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Missense_Mutation_p.M234T|RB1CC1_ENST00000435644.2_Missense_Mutation_p.M234T NM_014781.4 NP_055596.3 Q8TDY2 RBCC1_HUMAN RB1-inducible coiled-coil 1 234 NA M -> T (in dbSNP:rs17337252). {ECO:0000269|PubMed:11850849, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9039502}. autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969) NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 60 all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023) GGATCTTTTCATCTCAGCTTT 0.423 NA A||| 2519 0.502995 0.2088 0.6095 5008 , , NA 19241 0.8393 NA 0.5 False NA ,,, NA NA NA 2504 0.4816 NA NA NA GBM(180;1701 2102 13475 42023 52570) NA 0 GRCh37 CM063091 RB1CC1 M rs17337252 A THR/MET,THR/MET 1122,3284 402.4+/-332.3 143,836,1224 246 232 237 701,701 3 0.9 8 dbSNP_123 237 4211,4389 570.8+/-389.4 1034,2143,1123 yes missense,missense RB1CC1 NM_001083617.1,NM_014781.4 81,81 1177,2979,2347 GG,GA,AA 48.9651,25.4653,41.0042 benign,benign 234/1592,234/1595 53586706 5333,7673 2203 4300 6503 SO:0001583 missense AB059622 CCDS34892.1, CCDS47856.1 8q11 2014-06-13 ENSG00000023287 9821 15574 protein-coding gene gene with protein product 200 kDa FAK family kinase-interacting protein, phosphatase 1, regulatory subunit 131 606837 NA 11850849, 7724523, 18443221 Standard NM_014781 NM_014781 NA Approved KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131 uc003xre.4 Q8TDY2 ENST00000025008.5:c.701T>C chr8.hg19:g.53586706A>G ENSP00000025008:p.Met234Thr NA Q86YR4|Q8WVU9|Q92601 hg19 CCDS34892.1 0.02 20.893342 TTCxTCT COVERED 1195 0.5471611721611722 112 0.22764227642276422 214 0.5911602209944752 481 0.8409090909090909 388 0.5118733509234829 A 9.138 1.013096 0.19277 0.254653 0.489651 ENSG00000023287 ENST00000025008;ENST00000435644;ENST00000539297 T;T;T 0.12984 2.63;2.63;2.63 5.36 2.99 0.34606 . 0.681941 0.14591 N 0.310238 T 0.00012 0.0000 N 0.02011 -0.69 0.39175 P 0.037321999999999966 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.18272 -1.0342 9 0.10902 T 0.67 -2.1882 3.6785 0.08301 0.5558:0.0:0.1717:0.2725 rs17337252;rs17851535;rs58549444;rs17337252 234;234 Q8TDY2-2;Q8TDY2 .;RBCC1_HUMAN T 234 ENSP00000025008:M234T;ENSP00000396067:M234T;ENSP00000445960:M234T ENSP00000025008:M234T M - 2 0 RB1CC1 53749259 0.485000 0.25972 0.893000 0.35052 0.803000 0.45373 2.354000 0.44098 0.976000 0.38417 0.383000 0.25322 ATG NOVEL RB1CC1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000378011.1 3 22.867096 KEEP 0 0 0 76 2375 AA 1 1 0 - 19 60 645 0 0 38.165125 504 60 18595 699 ENST00000025008.5 0.036329 1 OPRK1 4986 __UNKNOWN__ __UNKNOWN__ 8 54139928 54139928 __UNKNOWN__ 3'UTR SNP C C T rs553782073 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:54139928C>T ENST00000265572.3 - 0 3369 RP11-162D9.3_ENST00000524425.1_RNA NM_000912.3 NP_000903.2 P41145 OPRK_HUMAN opioid receptor, kappa 1 NA NA adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-inhibiting opioid receptor signaling pathway (GO:0031635)|behavior (GO:0007610)|defense response to virus (GO:0051607)|immune response (GO:0006955)|locomotory behavior (GO:0007626)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of saliva secretion (GO:0046877)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268) integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) dynorphin receptor activity (GO:0038048)|opioid receptor activity (GO:0004985) NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 43 all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136) Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Fentanyl(DB00813)|Heroin(DB01452)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Menthol(DB00825)|Methylnaltrexone(DB06800)|Mianserin(DB06148)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Pethidine(DB00454)|Progesterone(DB00396)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193) AGGAATCTGACGAGAAAGTCT 0.333 NA C||| 2 0.000399361 0.0 0.0 5008 , , NA 17596 0.002 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS6152.1, CCDS64895.1 8q11.2 2014-05-21 ENSG00000082556 ENSG00000082556 4986 GPCR / Class A : Opioid receptors 8154 protein-coding gene gene with protein product 165196 NA 8188308 Standard XM_005251252 NA Approved KOR, OPRK uc003xri.1 P41145 OTTHUMG00000164276 ENST00000265572.3:c.*1929G>A chr8.hg19:g.54139928C>T NA E5RHC9|Q499G4 hg19 CCDS6152.1 0.02 6.335198 TGAxGAG COVERED NOVEL OPRK1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000378048.1 10 13.543568 KEEP 0 0 0 45 1539 CC 1 1 0 - 8 60 288 0 0 18.10188 189 60 6853 319 ENST00000265572.3 0.040609 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 54626687 54626687 __UNKNOWN__ IGR SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:54626687G>A NA NA RP11-400K9.4 (190196 upstream) : ATP6V1H (1429 downstream) NA NA NA TGACAGGGCAGGCCTTGTTCT 0.418 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr8.hg19:g.54626687G>A NA hg19 0.02 28.744546 GCAxGCC COVERED NOVEL 0 4 54.452464 KEEP 1 0 0 181 6519 GG 1 1 0 19 60 695 0 0 40.907743 665 60 24931 1074 0.027778 1 RP1 6101 __UNKNOWN__ __UNKNOWN__ 8 55539057 55539057 __UNKNOWN__ Missense_Mutation SNP G G A rs444772 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:55539057G>A ENST00000220676.1 + 4 2763 c.2615G>A c.(2614-2616)cGt>cAt p.R872H NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 872 NA R -> H (in dbSNP:rs444772). {ECO:0000269|PubMed:10391212, ECO:0000269|PubMed:11095597, ECO:0000269|PubMed:11527933, ECO:0000269|PubMed:15933747, ECO:0000269|PubMed:20664799}. axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601) axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750) microtubule binding (GO:0008017) NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) CAGAAAAAACGTAAAGGGGAT 0.358 NA G||| 1363 0.272165 0.1407 0.3055 5008 , , NA 16799 0.4415 NA 0.2714 False NA ,,, NA NA NA 2504 0.2526 NA NA NA Colon(91;1014 1389 7634 14542 40420) NA 0 G HIS/ARG 743,3653 64,615,1519 36 38 37 2615 1.4 1 8 dbSNP_80 37 2330,6262 305,1720,2271 yes missense RP1 NM_006269.1 29 369,2335,3790 AA,AG,GG 27.1182,16.9017,23.6603 benign 872/2157 55539057 3073,9915 2198 4296 6494 SO:0001583 missense AF146592 CCDS6160.1 8q12.1 2013-01-08 ENSG00000104237 6101 10263 protein-coding gene gene with protein product 603937 NA 1783394 Standard NM_006269 NM_006269 NA Approved DCDC4A uc003xsd.1 P56715 ENST00000220676.1:c.2615G>A chr8.hg19:g.55539057G>A ENSP00000220676:p.Arg872His NA hg19 CCDS6160.1 0.02 8.279742 AACxTAA COVERED 657 0.3008241758241758 102 0.2073170731707317 109 0.3011049723756906 250 0.4370629370629371 196 0.25857519788918204 G 11.43 1.636342 0.29068 0.169017 0.271182 ENSG00000104237 ENST00000220676 T 0.43294 0.95 5.44 1.42 0.22433 . 0.938342 0.08875 N 0.881013 T 0.00012 0.0000 N 0.08118 0 0.58432 P 1.999999999946489E-6 B 0.29253 0.239 B 0.22880 0.042 T 0.44997 -0.9291 9 0.56958 D 0.05 . 8.4605 0.32925 0.5628:0.37:0.0671:0.0 rs444772;rs52805057;rs57776921;rs444772 872 P56715 RP1_HUMAN H 872 ENSP00000220676:R872H ENSP00000220676:R872H R + 2 0 RP1 55701610 0.998000 0.40836 0.994000 0.49952 0.827000 0.46813 1.804000 0.38873 0.327000 0.23409 -0.294000 0.09567 CGT NOVEL RP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000378532.2 1 3.912494 KEEP 0 0 0 13 441 GG 0.994391 0.994391 0 + 8 60 294 0 0 18.22172 217 60 7703 273 ENST00000220676.1 0.035556 1 RP1 6101 __UNKNOWN__ __UNKNOWN__ 8 55541617 55541617 __UNKNOWN__ Silent SNP A A G rs441800 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:55541617A>G ENST00000220676.1 + 4 5323 c.5175A>G c.(5173-5175)caA>caG p.Q1725Q NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1725 NA axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601) axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750) microtubule binding (GO:0008017) NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) GTACAAAACAAAATGATGATA 0.403 NA A||| 1206 0.240815 0.056 0.2709 5008 , , NA 22859 0.4415 NA 0.2604 False NA ,,, NA NA NA 2504 0.2423 NA NA NA Colon(91;1014 1389 7634 14542 40420) NA 0 A 404,4002 199.1+/-222.7 20,364,1819 127 123 125 5175 0.9 0 8 dbSNP_80 125 2200,6400 373.5+/-337.0 274,1652,2374 no coding-synonymous RP1 NM_006269.1 294,2016,4193 GG,GA,AA 25.5814,9.1693,20.0215 1725/2157 55541617 2604,10402 2203 4300 6503 SO:0001819 synonymous_variant AF146592 CCDS6160.1 8q12.1 2013-01-08 ENSG00000104237 6101 10263 protein-coding gene gene with protein product 603937 NA 1783394 Standard NM_006269 NM_006269 NA Approved DCDC4A uc003xsd.1 P56715 ENST00000220676.1:c.5175A>G chr8.hg19:g.55541617A>G NA hg19 CCDS6160.1 0.02 24.966295 ACAxAAT COVERED NOVEL RP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000378532.2 2 12.336234 KEEP 0 0 0 41 1291 AA 1 1 0 + 17 60 635 0 0 38.430458 553 60 19792 717 ENST00000220676.1 0.029825 1 XKR4 114786 __UNKNOWN__ __UNKNOWN__ 8 56364191 56364191 __UNKNOWN__ Intron SNP A A G rs2939633 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:56364191A>G ENST00000327381.6 + 3 1106 NM_052898.1 NP_443130.1 Q5GH76 XKR4_HUMAN XK, Kell blood group complex subunit-related family, member 4 NA NA integral component of membrane (GO:0016021) NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 34 Epithelial(17;0.000117)|all cancers(17;0.000836) TAGCAGTAGGACACGCGCTGC 0.627 NA A||| 2132 0.425719 0.2383 0.513 5008 , , NA 18680 0.5575 NA 0.4513 False NA ,,, NA NA NA 2504 0.455 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY534241 CCDS34893.1 8q12.1 2006-01-12 2006-01-12 ENSG00000206579 ENSG00000206579 114786 29394 protein-coding gene gene with protein product X Kell blood group precursor-related family, member 4 NA Standard NM_052898 NM_052898 NA Approved KIAA1889 uc003xsf.3 Q5GH76 OTTHUMG00000164288 ENST00000327381.6:c.1007-71649A>G chr8.hg19:g.56364191A>G NA Q96PZ8 hg19 CCDS34893.1 0.02 1.828128 AGGxCAC COVERED NOVEL XKR4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000378129.2 0 5.114976 KEEP 0 0 0 17 533 AA 0.999366 0.999315 0 + 4 60 146 0 0 9.253861 94 60 3240 131 ENST00000327381.6 0.040816 0.999948 XKR4 114786 __UNKNOWN__ __UNKNOWN__ 8 56364382 56364382 __UNKNOWN__ Intron SNP A A G rs2939634 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:56364382A>G ENST00000327381.6 + 3 1106 NM_052898.1 NP_443130.1 Q5GH76 XKR4_HUMAN XK, Kell blood group complex subunit-related family, member 4 NA NA integral component of membrane (GO:0016021) NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 34 Epithelial(17;0.000117)|all cancers(17;0.000836) TTCCACCAGGAGGCTGCTCAT 0.632 NA A||| 2113 0.421925 0.2352 0.5101 5008 , , NA 17672 0.5516 NA 0.4443 False NA ,,, NA NA NA 2504 0.455 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY534241 CCDS34893.1 8q12.1 2006-01-12 2006-01-12 ENSG00000206579 ENSG00000206579 114786 29394 protein-coding gene gene with protein product X Kell blood group precursor-related family, member 4 NA Standard NM_052898 NM_052898 NA Approved KIAA1889 uc003xsf.3 Q5GH76 OTTHUMG00000164288 ENST00000327381.6:c.1007-71458A>G chr8.hg19:g.56364382A>G NA Q96PZ8 hg19 CCDS34893.1 0.02 7.314705 AGGxGGC COVERED NOVEL XKR4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000378129.2 0 8.121731 KEEP 0 0 0 27 807 AA 0.999988 0.999988 0 + 11 60 401 0 0 27.803133 154 60 5660 229 ENST00000327381.6 0.066667 1 XKR4 114786 __UNKNOWN__ __UNKNOWN__ 8 56364593 56364593 __UNKNOWN__ Intron SNP C C G rs2939635 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:56364593C>G ENST00000327381.6 + 3 1106 NM_052898.1 NP_443130.1 Q5GH76 XKR4_HUMAN XK, Kell blood group complex subunit-related family, member 4 NA NA integral component of membrane (GO:0016021) NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 34 Epithelial(17;0.000117)|all cancers(17;0.000836) GGTTCCAGGACAGGGTTCTGA 0.592 NA C||| 2081 0.415535 0.2073 0.5086 5008 , , NA 19694 0.5506 NA 0.4443 False NA ,,, NA NA NA 2504 0.4622 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY534241 CCDS34893.1 8q12.1 2006-01-12 2006-01-12 ENSG00000206579 ENSG00000206579 114786 29394 protein-coding gene gene with protein product X Kell blood group precursor-related family, member 4 NA Standard NM_052898 NM_052898 NA Approved KIAA1889 uc003xsf.3 Q5GH76 OTTHUMG00000164288 ENST00000327381.6:c.1007-71247C>G chr8.hg19:g.56364593C>G NA Q96PZ8 hg19 CCDS34893.1 0.02 2.313967 GGAxAGG COVERED NOVEL XKR4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000378129.2 0 2.407868 KEEP 0 0 0 8 286 CC 0.99257 0.969607 0 + 7 60 254 0 0 19.697231 47 60 1774 76 ENST00000327381.6 0.12963 0.976865 XKR4 114786 __UNKNOWN__ __UNKNOWN__ 8 56365521 56365521 __UNKNOWN__ Intron SNP T T A rs2929047 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:56365521T>A ENST00000327381.6 + 3 1106 NM_052898.1 NP_443130.1 Q5GH76 XKR4_HUMAN XK, Kell blood group complex subunit-related family, member 4 NA NA integral component of membrane (GO:0016021) NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 34 Epithelial(17;0.000117)|all cancers(17;0.000836) CTGCTGCTTCTCACCGCTCAG 0.602 NA T||| 2102 0.419728 0.2345 0.5058 5008 , , NA 21701 0.5506 NA 0.4443 False NA ,,, NA NA NA 2504 0.4489 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY534241 CCDS34893.1 8q12.1 2006-01-12 2006-01-12 ENSG00000206579 ENSG00000206579 114786 29394 protein-coding gene gene with protein product X Kell blood group precursor-related family, member 4 NA Standard NM_052898 NM_052898 NA Approved KIAA1889 uc003xsf.3 Q5GH76 OTTHUMG00000164288 ENST00000327381.6:c.1007-70319T>A chr8.hg19:g.56365521T>A NA Q96PZ8 hg19 CCDS34893.1 0.02 3.918923 TTCxCAC COVERED NOVEL XKR4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000378129.2 1 2.841329 KEEP 0 1 24 18 567 TT 0.99986 0.999859 0 + 6 60 209 0 0 13.170271 126 60 4501 190 ENST00000327381.6 0.045455 1 XKR4 114786 __UNKNOWN__ __UNKNOWN__ 8 56365578 56365578 __UNKNOWN__ Intron SNP T T C rs867531 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:56365578T>C ENST00000327381.6 + 3 1106 NM_052898.1 NP_443130.1 Q5GH76 XKR4_HUMAN XK, Kell blood group complex subunit-related family, member 4 NA NA integral component of membrane (GO:0016021) NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 34 Epithelial(17;0.000117)|all cancers(17;0.000836) TAGGGCAGAGTGCTCTCTCAT 0.597 NA C||| 2092 0.417732 0.2262 0.5058 5008 , , NA 23359 0.5516 NA 0.4443 False NA ,,, NA NA NA 2504 0.4489 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY534241 CCDS34893.1 8q12.1 2006-01-12 2006-01-12 ENSG00000206579 ENSG00000206579 114786 29394 protein-coding gene gene with protein product X Kell blood group precursor-related family, member 4 NA Standard NM_052898 NM_052898 NA Approved KIAA1889 uc003xsf.3 Q5GH76 OTTHUMG00000164288 ENST00000327381.6:c.1007-70262T>C chr8.hg19:g.56365578T>C NA Q96PZ8 hg19 CCDS34893.1 0.02 3.883261 GAGxGCT COVERED NOVEL XKR4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000378129.2 1 5.113569 KEEP 0 0 0 17 505 TT 0.999366 0.999366 0 + 7 60 233 0 0 14.672888 129 60 4544 180 ENST00000327381.6 0.051471 1 CHCHD7 79145 __UNKNOWN__ __UNKNOWN__ 8 57129291 57129291 __UNKNOWN__ Intron SNP A A T rs62515433 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:57129291A>T ENST00000355315.3 + 3 252 CHCHD7_ENST00000521831.1_Intron|CHCHD7_ENST00000517933.1_3'UTR|CHCHD7_ENST00000396723.5_Intron|CHCHD7_ENST00000521524.1_Intron|CHCHD7_ENST00000518801.1_Intron|CHCHD7_ENST00000519367.1_Intron|CHCHD7_ENST00000303759.3_Intron|CHCHD7_ENST00000523975.1_Intron|CHCHD7_ENST00000523061.1_Intron NM_001011670.1|NM_001011671.1 NP_001011670.1|NP_001011671.1 Q9BUK0 CHCH7_HUMAN coiled-coil-helix-coiled-coil-helix domain containing 7 NA NA mitochondrion (GO:0005739) CHCHD7/PLAG1(12) endometrium(1) 1 all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125) Epithelial(17;0.00159)|all cancers(17;0.0112) CCTCTAAGCTATAAGAATGCA 0.378 NA T PLAG1 salivary adenoma A||| 667 0.133187 0.0386 0.1225 5008 , , NA 21606 0.1845 NA 0.2276 False NA ,,, NA NA NA 2504 0.1186 NA NA NA Dom yes 8 8q11.2 79145 coiled-coil-helix-coiled-coil-helix domain containing 7 E 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK095922 CCDS34895.1, CCDS34896.1, CCDS6166.2, CCDS55232.1, CCDS55233.1 8q11.23 2012-10-15 ENSG00000170791 ENSG00000170791 79145 Coiled-coil-helix-coiled-coil-helix domain containing 28314 protein-coding gene gene with protein product COX23 cytochrome c oxidase assembly homolog (S. cerevisiae) 611238 NA 20922212, 22842048 Standard NM_024300 XR_428340 NA Approved MGC2217, COX23 uc003xsv.3 Q9BUK0 OTTHUMG00000074081 ENST00000355315.3:c.153+201A>T chr8.hg19:g.57129291A>T NA A8K223|E9PBH3|J3KNE9|Q7Z588 hg19 CCDS34896.1 0.02 17.665735 GCTxTAA COVERED NOVEL CHCHD7-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000378218.1 4 16.247508 KEEP 0 0 0 54 1652 AA 1 1 0 + 11 60 410 0 0 24.092157 414 60 15190 559 ENST00000355315.3 0.025882 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 57349380 57349380 __UNKNOWN__ IGR SNP C C T rs13268089 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:57349380C>T NA NA SDR16C6P (46010 upstream) : PENK (4132 downstream) NA NA NA AAAACTTGTTCTTTGTGGGAG 0.388 NA C||| 1689 0.33726 0.1172 0.3026 5008 , , NA 19120 0.377 NA 0.4503 False NA ,,, NA NA NA 2504 0.502 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr8.hg19:g.57349380C>T NA hg19 0.02 6.419702 GTTxTTT COVERED NOVEL 0 0 4.513992 KEEP 0 0 0 15 508 CC 0.99649 0.99649 0 15 60 529 0 0 37.793954 161 60 6051 203 0.085227 1 PENK 5179 __UNKNOWN__ __UNKNOWN__ 8 57357975 57357975 __UNKNOWN__ Intron SNP G G A rs2576573 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:57357975G>A ENST00000523051.1 - 3 270 PENK_ENST00000314922.3_Intron|PENK_ENST00000518770.1_3'UTR|PENK_ENST00000451791.2_Intron|PENK_ENST00000523274.1_Intron P01210 PENK_HUMAN proenkephalin NA NA aggressive behavior (GO:0002118)|behavioral fear response (GO:0001662)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|startle response (GO:0001964) extracellular region (GO:0005576) neuropeptide hormone activity (GO:0005184) central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 21 all_lung(136;0.229) Epithelial(17;0.000873)|all cancers(17;0.0069) GACTGCGTGTGGAGGGGCCCT 0.468 NA G||| 1853 0.370008 0.2179 0.3184 5008 , , NA 19223 0.3929 NA 0.4533 False NA ,,, NA NA NA 2504 0.5031 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS6168.1 8q23-q24 2013-02-26 ENSG00000181195 5179 Endogenous ligands 8831 protein-coding gene gene with protein product preproenkephalin 131330 NA 6281660 Standard NM_006211 NA Approved uc003xsz.2 P01210 ENST00000523051.1:c.138+399C>T chr8.hg19:g.57357975G>A NA B2RC23|Q6FHC6|Q6FHE6 hg19 0.02 6.693405 TGTxGAG COVERED NOVEL PENK-005 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000378649.1 0 11.738133 KEEP 0 0 0 39 1363 GG 1 1 0 - 7 60 264 0 0 16.911811 172 70 6372 262 ENST00000523051.1 0.039106 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 58470461 58470461 __UNKNOWN__ IGR SNP C C A rs28592079 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:58470461C>A NA NA RNU7-174P (1266 upstream) : RP11-388G22.1 (36263 downstream) NA NA NA TGGGAGTGCTCCCAGAGCTAC 0.433 NA A||| 3173 0.633586 0.7231 0.5692 5008 , , NA 16110 0.6399 NA 0.5388 False NA ,,, NA NA NA 2504 0.6493 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr8.hg19:g.58470461C>A NA hg19 0.02 5.865659 GCTxCCA COVERED NOVEL 0 0 9.931543 KEEP 0 0 0 33 1143 CC 0.999998 0.999998 0 11 60 373 0 0 24.833325 160 60 5959 246 0.064327 1 FAM110B 90362 __UNKNOWN__ __UNKNOWN__ 8 59060649 59060649 __UNKNOWN__ 3'UTR SNP T T C rs77218799 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:59060649T>C ENST00000361488.3 + 0 2740 FAM110B_ENST00000520369.1_Intron NM_147189.2 NP_671722.1 Q8TC76 F110B_HUMAN family with sequence similarity 110, member B NA NA cytoplasm (GO:0005737)|cytoskeleton (GO:0005856) breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2) 26 all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355) AAATTCCTAATATTATCTTTC 0.308 NA T||| 28 0.00559105 0.0 0.0 5008 , , NA 16541 0.0278 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U79298 CCDS6170.1 8q12.1 2007-06-21 2007-03-21 2007-03-21 ENSG00000169122 90362 28587 protein-coding gene gene with protein product 611394 chromosome 8 open reading frame 72 C8orf72 NA 8619474, 9110174, 17499476 Standard NM_147189 XM_005251324 NA Approved MGC39325 uc003xtj.1 Q8TC76 ENST00000361488.3:c.*747T>C chr8.hg19:g.59060649T>C NA Q5BM08|Q9Y4K2 hg19 CCDS6170.1 0.02 2.09863 TAAxATT COVERED NOVEL FAM110B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000378095.2 1 5.416329 KEEP 0 0 0 18 559 TT 0.999859 0.999694 0 + 8 60 312 0 0 23.297622 82 70 2912 139 ENST00000361488.3 0.088889 0.999835 UBXN2B 137886 __UNKNOWN__ __UNKNOWN__ 8 59339174 59339174 __UNKNOWN__ Intron SNP C C G rs16923455 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:59339174C>G ENST00000399598.2 + 3 310 UBXN2B_ENST00000522978.1_Intron NM_001077619.1 NP_001071087.1 Q14CS0 UBX2B_HUMAN UBX domain protein 2B NA NA endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634) endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 13 GCTGTCAGCTCCTCTTATCAA 0.463 NA C||| 399 0.0796725 0.0507 0.0216 5008 , , NA 18315 0.2341 NA 0.008 False NA ,,, NA NA NA 2504 0.0746 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK054658 CCDS43741.1 8q12.1 2008-08-08 ENSG00000215114 ENSG00000215114 137886 UBX domain containing 27035 protein-coding gene gene with protein product 610686 NA 8619474, 9110174 Standard NM_001077619 NM_001077619 NA Approved p37 uc003xtl.3 Q14CS0 OTTHUMG00000164300 ENST00000399598.2:c.189-3904C>G chr8.hg19:g.59339174C>G NA B3KWZ3 hg19 CCDS43741.1 0.02 -0.38602 GCTxCTC COVERED NOVEL UBXN2B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000378184.1 0 2.708441 KEEP 0 0 0 9 301 CC 0.99254 0.911321 0 + 3 60 118 0 0 8.475606 41 60 1513 56 ENST00000399598.2 0.068182 0.918171 UBXN2B 137886 __UNKNOWN__ __UNKNOWN__ 8 59347184 59347184 __UNKNOWN__ Intron SNP A A G rs1993453 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:59347184A>G ENST00000399598.2 + 5 655 UBXN2B_ENST00000522978.1_Intron NM_001077619.1 NP_001071087.1 Q14CS0 UBX2B_HUMAN UBX domain protein 2B NA NA endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634) endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 13 TATTAAATAAATGGTTGCTGG 0.363 NA G||| 3625 0.723842 0.7595 0.7939 5008 , , NA 13900 0.7669 NA 0.6362 False NA ,,, NA NA NA 2504 0.6718 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK054658 CCDS43741.1 8q12.1 2008-08-08 ENSG00000215114 ENSG00000215114 137886 UBX domain containing 27035 protein-coding gene gene with protein product 610686 NA 8619474, 9110174 Standard NM_001077619 NM_001077619 NA Approved p37 uc003xtl.3 Q14CS0 OTTHUMG00000164300 ENST00000399598.2:c.533+121A>G chr8.hg19:g.59347184A>G NA B3KWZ3 hg19 CCDS43741.1 0.02 1.87812 TAAxTGG COVERED NOVEL UBXN2B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000378184.1 1 2.707751 KEEP 0 0 0 9 273 AA 0.99254 0.991863 0 + 5 60 182 0 0 12.440036 76 60 2633 95 ENST00000399598.2 0.061728 0.999317 UBXN2B 137886 __UNKNOWN__ __UNKNOWN__ 8 59363853 59363853 __UNKNOWN__ 3'UTR SNP A A G rs7958 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:59363853A>G ENST00000399598.2 + 0 4861 NM_001077619.1 NP_001071087.1 Q14CS0 UBX2B_HUMAN UBX domain protein 2B NA NA endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634) endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 13 ACAGTATTTCATGTGTGCTAT 0.303 NA A||| 1736 0.346645 0.2042 0.5432 5008 , , NA 17769 0.4752 NA 0.3082 False NA ,,, NA NA NA 2504 0.3067 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK054658 CCDS43741.1 8q12.1 2008-08-08 ENSG00000215114 ENSG00000215114 137886 UBX domain containing 27035 protein-coding gene gene with protein product 610686 NA 8619474, 9110174 Standard NM_001077619 NM_001077619 NA Approved p37 uc003xtl.3 Q14CS0 OTTHUMG00000164300 ENST00000399598.2:c.*3743A>G chr8.hg19:g.59363853A>G NA B3KWZ3 hg19 CCDS43741.1 0.02 18.161663 TTCxTGT COVERED NOVEL UBXN2B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000378184.1 1 9.862064 KEEP 1 1 26 42 1306 AA 1 1 0 + 36 60 1297 0 0 93.735796 379 60 13998 527 ENST00000399598.2 0.086747 1 SDCBP 6386 __UNKNOWN__ __UNKNOWN__ 8 59474090 59474090 __UNKNOWN__ Intron SNP C C A rs75120937 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:59474090C>A ENST00000260130.4 + 2 135 SDCBP_ENST00000424270.2_Intron|SDCBP_ENST00000447182.2_Intron|SDCBP_ENST00000422546.2_Intron|SDCBP_ENST00000520168.1_Intron|SDCBP_ENST00000522243.1_Intron|SDCBP_ENST00000523483.1_De_novo_Start_InFrame|SDCBP_ENST00000413219.2_Intron NM_001007068.1|NM_001007069.1|NM_005625.3 NP_001007069.1|NP_001007070.1|NP_005616.2 O00560 SDCB1_HUMAN syndecan binding protein (syntenin) NA NA actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|intracellular signal transduction (GO:0035556)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|protein targeting to membrane (GO:0006612)|Ras protein signal transduction (GO:0007265)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic transmission (GO:0007268) adherens junction (GO:0005912)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-5 receptor complex (GO:0005895)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982) cytoskeletal adaptor activity (GO:0008093)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|interleukin-5 receptor binding (GO:0005137)|protein heterodimerization activity (GO:0046982)|protein N-terminus binding (GO:0047485)|syndecan binding (GO:0045545) breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1) 8 all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554) tagcagaaaccttgcaggtca 0.363 NA C||| 655 0.130791 0.202 0.049 5008 , , NA 18779 0.2808 NA 0.0089 False NA ,,, NA NA NA 2504 0.0634 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF000652 CCDS6172.1, CCDS47862.1, CCDS47863.1 8q12.1 2012-12-04 ENSG00000137575 ENSG00000137575 6386 10662 protein-coding gene gene with protein product 602217 NA 9391086 Standard NM_005625 NM_001007067 NA Approved SYCL uc003xtq.3 O00560 OTTHUMG00000164303 ENST00000260130.4:c.-15-3488C>A chr8.hg19:g.59474090C>A NA B2R5Q7|B4DUH3|B7ZLN2|O00173|O43391|Q14CP2 hg19 CCDS6172.1 0.02 9.021182 AACxTTG COVERED NOVEL SDCBP-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000378193.1 1 13.243498 KEEP 0 0 0 44 1591 CC 1 1 0 + 21 60 723 0 0 52.36792 199 60 7473 322 ENST00000260130.4 0.095455 1 SDCBP 6386 __UNKNOWN__ __UNKNOWN__ 8 59477661 59477661 __UNKNOWN__ Intron SNP C C T rs77422315 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:59477661C>T ENST00000260130.4 + 2 201 SDCBP_ENST00000447267.2_Intron|SDCBP_ENST00000424270.2_Intron|SDCBP_ENST00000447182.2_Intron|SDCBP_ENST00000422546.2_Intron|SDCBP_ENST00000520168.1_Intron|SDCBP_ENST00000522243.1_Intron|SDCBP_ENST00000523483.1_Intron|SDCBP_ENST00000413219.2_Intron NM_001007068.1|NM_001007069.1|NM_005625.3 NP_001007069.1|NP_001007070.1|NP_005616.2 O00560 SDCB1_HUMAN syndecan binding protein (syntenin) NA NA actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|intracellular signal transduction (GO:0035556)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|protein targeting to membrane (GO:0006612)|Ras protein signal transduction (GO:0007265)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic transmission (GO:0007268) adherens junction (GO:0005912)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-5 receptor complex (GO:0005895)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982) cytoskeletal adaptor activity (GO:0008093)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|interleukin-5 receptor binding (GO:0005137)|protein heterodimerization activity (GO:0046982)|protein N-terminus binding (GO:0047485)|syndecan binding (GO:0045545) breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1) 8 all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554) AGTTTAAATACTTTTGTCAAA 0.294 NA C||| 655 0.130791 0.202 0.049 5008 , , NA 15159 0.2808 NA 0.0089 False NA ,,, NA NA NA 2504 0.0634 NA NA NA NA 0 C ,,,, 739,3667 279.9+/-275.1 61,617,1525 48 51 50 ,,,, -5.6 0 8 dbSNP_132 50 40,8540 24.0+/-70.4 0,40,4250 no intron,intron,intron,intron,intron SDCBP NM_001007067.1,NM_001007068.1,NM_001007069.1,NM_001007070.1,NM_005625.3 ,,,, 61,657,5775 TT,TC,CC 0.4662,16.7726,5.9988 ,,,, ,,,, 59477661 779,12207 2203 4290 6493 SO:0001627 intron_variant AF000652 CCDS6172.1, CCDS47862.1, CCDS47863.1 8q12.1 2012-12-04 ENSG00000137575 ENSG00000137575 6386 10662 protein-coding gene gene with protein product 602217 NA 9391086 Standard NM_005625 NM_001007067 NA Approved SYCL uc003xtq.3 O00560 OTTHUMG00000164303 ENST00000260130.4:c.51+18C>T chr8.hg19:g.59477661C>T NA B2R5Q7|B4DUH3|B7ZLN2|O00173|O43391|Q14CP2 hg19 CCDS6172.1 0.02 18.479242 ATAxTTT COVERED NOVEL SDCBP-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000378193.1 1 31.60385 KEEP 0 0 0 105 3815 CC 1 1 0 + 35 60 1289 0 0 92.304178 412 60 15814 703 ENST00000260130.4 0.0783 1 SDCBP 6386 __UNKNOWN__ __UNKNOWN__ 8 59494712 59494712 __UNKNOWN__ 3'UTR SNP T T A rs3739326 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:59494712T>A ENST00000260130.4 + 0 1460 SDCBP_ENST00000447182.2_3'UTR|SDCBP_ENST00000422546.2_3'UTR|SDCBP_ENST00000523483.1_3'UTR|SDCBP_ENST00000413219.2_3'UTR NM_001007068.1|NM_001007069.1|NM_005625.3 NP_001007069.1|NP_001007070.1|NP_005616.2 O00560 SDCB1_HUMAN syndecan binding protein (syntenin) NA NA actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|intracellular signal transduction (GO:0035556)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|protein targeting to membrane (GO:0006612)|Ras protein signal transduction (GO:0007265)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic transmission (GO:0007268) adherens junction (GO:0005912)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-5 receptor complex (GO:0005895)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982) cytoskeletal adaptor activity (GO:0008093)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|interleukin-5 receptor binding (GO:0005137)|protein heterodimerization activity (GO:0046982)|protein N-terminus binding (GO:0047485)|syndecan binding (GO:0045545) breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1) 8 all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554) CATGCTATCATAGTACATTTA 0.328 NA T||| 660 0.131789 0.2027 0.0519 5008 , , NA 20214 0.2808 NA 0.0109 False NA ,,, NA NA NA 2504 0.0634 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF000652 CCDS6172.1, CCDS47862.1, CCDS47863.1 8q12.1 2012-12-04 ENSG00000137575 ENSG00000137575 6386 10662 protein-coding gene gene with protein product 602217 NA 9391086 Standard NM_005625 NM_001007067 NA Approved SYCL uc003xtq.3 O00560 OTTHUMG00000164303 ENST00000260130.4:c.*413T>A chr8.hg19:g.59494712T>A NA B2R5Q7|B4DUH3|B7ZLN2|O00173|O43391|Q14CP2 hg19 CCDS6172.1 0.02 28.205544 TCAxAGT COVERED NOVEL SDCBP-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000378193.1 5 28.580959 KEEP 0 0 0 95 2859 TT 1 1 0 + 49 60 1719 1 0 119.237922 627 60 22725 894 ENST00000260130.4 0.072485 1 NSMAF 8439 __UNKNOWN__ __UNKNOWN__ 8 59498414 59498414 __UNKNOWN__ Intron SNP A A T rs1131173|rs76354168 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:59498414A>T ENST00000038176.3 - 29 2762 NSMAF_ENST00000427130.2_Intron NM_003580.3 NP_003571.2 Q92636 FAN_HUMAN neutral sphingomyelinase (N-SMase) activation associated factor NA NA ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165) cytoplasm (GO:0005737) receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230) autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 38 all_lung(136;0.174)|Lung NSC(129;0.2) GATCATGAACATGTCTGTAAA 0.423 NA G||| 655 0.130791 0.2027 0.049 5008 , , NA 22466 0.2808 NA 0.0089 False NA ,,, NA NA NA 2504 0.0624 NA NA NA NA 0 G , 753,3653 66,621,1516 240 233 236 , -10.7 0 8 dbSNP_132 236 42,8558 0,42,4258 no intron,intron NSMAF NM_001144772.1,NM_003580.3 , 66,663,5774 TT,TA,AA 0.4884,17.0903,6.1126 , , 59498414 795,12211 2203 4300 6503 SO:0001627 intron_variant X96586 CCDS6173.1, CCDS47864.1 8q12-q13 2013-01-10 ENSG00000035681 ENSG00000035681 8439 WD repeat domain containing 8017 protein-coding gene gene with protein product 603043 NA 8808629, 10640829 Standard NM_003580 NM_003580 NA Approved FAN uc011lee.2 Q92636 OTTHUMG00000164352 ENST00000038176.3:c.2549+42T>A chr8.hg19:g.59498414A>T NA B4DFB0|E9PCH0|Q8IW26 hg19 CCDS6173.1 0.02 16.71688 AACxTGT COVERED NOVEL NSMAF-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000378384.1 4 25.273989 KEEP 0 0 0 84 2611 AA 1 1 0 - 20 60 730 0 0 49.37791 333 60 12388 542 ENST00000038176.3 0.056657 1 NSMAF 8439 __UNKNOWN__ __UNKNOWN__ 8 59508134 59508134 __UNKNOWN__ Missense_Mutation SNP T T C rs2228505 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:59508134T>C ENST00000038176.3 - 22 2089 c.1877A>G c.(1876-1878)tAt>tGt p.Y626C NSMAF_ENST00000427130.2_Missense_Mutation_p.Y657C NM_003580.3 NP_003571.2 Q92636 FAN_HUMAN neutral sphingomyelinase (N-SMase) activation associated factor 626 NA Y -> C (in dbSNP:rs2228505). ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165) cytoplasm (GO:0005737) receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230) autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 38 all_lung(136;0.174)|Lung NSC(129;0.2) GTGGATTTTATAGTGCTCGTG 0.423 NA T||| 419 0.0836661 0.0643 0.0432 5008 , , NA 18768 0.2292 NA 0.0089 False NA ,,, NA NA NA 2504 0.0654 NA NA NA NA 0 T CYS/TYR,CYS/TYR 236,4170 138.4+/-174.2 9,218,1976 181 171 174 1970,1877 3.4 0.1 8 dbSNP_98 174 35,8565 24.0+/-70.4 0,35,4265 yes missense,missense NSMAF NM_001144772.1,NM_003580.3 194,194 9,253,6241 CC,CT,TT 0.407,5.3563,2.0837 possibly-damaging,possibly-damaging 657/949,626/918 59508134 271,12735 2203 4300 6503 SO:0001583 missense X96586 CCDS6173.1, CCDS47864.1 8q12-q13 2013-01-10 ENSG00000035681 ENSG00000035681 8439 WD repeat domain containing 8017 protein-coding gene gene with protein product 603043 NA 8808629, 10640829 Standard NM_003580 NM_003580 NA Approved FAN uc011lee.2 Q92636 OTTHUMG00000164352 ENST00000038176.3:c.1877A>G chr8.hg19:g.59508134T>C ENSP00000038176:p.Tyr626Cys NA B4DFB0|E9PCH0|Q8IW26 hg19 CCDS6173.1 0.02 9.708934 TTAxAGT COVERED 195 0.08928571428571429 33 0.06707317073170732 16 0.04419889502762431 142 0.24825174825174826 4 0.005277044854881266 T 15.16 2.751933 0.49362 0.053563 0.00407 ENSG00000035681 ENST00000038176;ENST00000427130 T;T 0.29917 1.55;1.55 5.89 3.38 0.38709 WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1); 0.597446 0.19091 N 0.122946 T 0.00012 0.0000 N 0.22421 0.69 0.47441 P 5.730000000000457E-4 D;P 0.61697 0.99;0.861 P;B 0.52031 0.688;0.371 T 0.23547 -1.0185 8 . . . . 6.1724 0.20424 0.121:0.1352:0.0:0.7437 rs2228505;rs2279461;rs16923590;rs52798345;rs16923590 657;626 Q92636-2;Q92636 .;FAN_HUMAN C 626;657 ENSP00000038176:Y626C;ENSP00000411012:Y657C . Y - 2 0 NSMAF 59670688 0.999000 0.42202 0.077000 0.20336 0.978000 0.69477 3.066000 0.50002 1.049000 0.40321 0.455000 0.32223 TAT NOVEL NSMAF-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000378384.1 4 36.708621 KEEP 0 0 0 122 3735 TT 1 1 0 - 11 60 426 0 0 28.379871 233 60 8525 464 ENST00000038176.3 0.045082 1 NSMAF 8439 __UNKNOWN__ __UNKNOWN__ 8 59522232 59522232 __UNKNOWN__ Silent SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:59522232C>T ENST00000038176.3 - 10 830 c.618G>A c.(616-618)ctG>ctA p.L206L NSMAF_ENST00000427130.2_Silent_p.L237L|NSMAF_ENST00000519858.1_5'UTR NM_003580.3 NP_003571.2 Q92636 FAN_HUMAN neutral sphingomyelinase (N-SMase) activation associated factor 206 GRAM. NA ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165) cytoplasm (GO:0005737) receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230) autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 38 all_lung(136;0.174)|Lung NSC(129;0.2) GATTAGTCACCAGAGGCGTCA 0.468 NA NA NA NA NA NA NA NA NA NA NA 0 112 102 106 NA NA 8 NA 59522232 2203 4300 6503 SO:0001819 synonymous_variant X96586 CCDS6173.1, CCDS47864.1 8q12-q13 2013-01-10 ENSG00000035681 ENSG00000035681 8439 WD repeat domain containing 8017 protein-coding gene gene with protein product 603043 NA 8808629, 10640829 Standard NM_003580 NM_003580 NA Approved FAN uc011lee.2 Q92636 OTTHUMG00000164352 ENST00000038176.3:c.618G>A chr8.hg19:g.59522232C>T NA B4DFB0|E9PCH0|Q8IW26 hg19 CCDS6173.1 0.02 9.073466 CACxAGA COVERED NOVEL NSMAF-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000378384.1 1 15.651284 KEEP 0 0 0 52 1863 CC 1 1 0 - 7 60 260 0 0 15.960756 207 60 7825 337 ENST00000038176.3 0.03271 1 NSMAF 8439 __UNKNOWN__ __UNKNOWN__ 8 59571856 59571856 __UNKNOWN__ Intron SNP A A C rs59606339 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:59571856A>C ENST00000038176.3 - 1 272 NSMAF_ENST00000427130.2_Missense_Mutation_p.I17S NM_003580.3 NP_003571.2 Q92636 FAN_HUMAN neutral sphingomyelinase (N-SMase) activation associated factor NA NA ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165) cytoplasm (GO:0005737) receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230) autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 38 all_lung(136;0.174)|Lung NSC(129;0.2) GCACTGCCGGATAGCTCGGCA 0.761 NA C||| 1348 0.269169 0.4697 0.1037 5008 , , NA 10863 0.497 NA 0.0467 False NA ,,, NA NA NA 2504 0.1094 NA NA NA NA 0 4 7 6 NA NA 8 NA 59571856 613 1513 2126 SO:0001627 intron_variant X96586 CCDS6173.1, CCDS47864.1 8q12-q13 2013-01-10 ENSG00000035681 ENSG00000035681 8439 WD repeat domain containing 8017 protein-coding gene gene with protein product 603043 NA 8808629, 10640829 Standard NM_003580 NM_003580 NA Approved FAN uc011lee.2 Q92636 OTTHUMG00000164352 ENST00000038176.3:c.59+275T>G chr8.hg19:g.59571856A>C NA B4DFB0|E9PCH0|Q8IW26 hg19 CCDS6173.1 0.02 4.585401 CGGxTAG COVERED 496 0.2271062271062271 186 0.3780487804878049 31 0.0856353591160221 244 0.42657342657342656 35 0.04617414248021108 C 0.151 -1.090991 0.01858 . . ENSG00000035681 ENST00000427130 T 0.55413 0.52 1.89 -0.128 0.13506 . . . . . T 0.00012 0.0000 . . . 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.45308 -0.9270 6 . . . . 0.796 0.01066 0.2394:0.3623:0.2355:0.1628 rs59606339 17 Q92636-2 . S 17 ENSP00000411012:I17S . I - 2 0 NSMAF 59734410 0.000000 0.05858 0.000000 0.03702 0.005000 0.04900 0.459000 0.21908 -0.396000 0.07703 -0.358000 0.07595 ATC NOVEL NSMAF-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000378384.1 1 26.413181 KEEP 0 0 0 88 2703 AA 1 1 0 - 11 60 405 0 0 28.77535 136 60 4701 289 ENST00000038176.3 0.07483 1 TOX 9760 __UNKNOWN__ __UNKNOWN__ 8 59718696 59718696 __UNKNOWN__ 3'UTR SNP C C T rs2726599 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:59718696C>T ENST00000361421.1 - 0 3411 NM_014729.2 NP_055544.1 O94900 TOX_HUMAN thymocyte selection-associated high mobility group box NA NA nucleus (GO:0005634) DNA binding (GO:0003677) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1) 33 all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607) ACTTTTGGTTCCCTAGCAAAT 0.403 NA C||| 2074 0.414137 0.289 0.3718 5008 , , NA 17100 0.5893 NA 0.3797 False NA ,,, NA NA NA 2504 0.4683 NA NA NA Pancreas(161;610 1969 17913 21374 22725) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS34897.1 8q12.2-q12.3 2009-04-17 ENSG00000198846 ENSG00000198846 9760 18988 protein-coding gene gene with protein product 606863 NA 9872452, 11850626 Standard NM_014729 NM_014729 NA Approved KIAA0808, TOX1 uc003xtw.1 O94900 OTTHUMG00000164331 ENST00000361421.1:c.*1610G>A chr8.hg19:g.59718696C>T NA Q96AV5 hg19 CCDS34897.1 0.02 8.015517 GTTxCCT COVERED NOVEL TOX-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000378307.1 2 10.827297 KEEP 0 0 0 36 1225 CC 0.999999 0.999999 0 - 8 60 283 0 0 17.18679 213 60 7936 309 ENST00000361421.1 0.036199 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 60805861 60805861 __UNKNOWN__ IGR SNP T T C rs79715143 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:60805861T>C NA NA RP11-379I19.3 (286297 upstream) : RP11-27P7.1 (156284 downstream) NA NA NA tggatagttatacatttattt 0.343 NA T||| 239 0.0477236 0.0673 0.0086 5008 , , NA 19059 0.1131 NA 0.002 False NA ,,, NA NA NA 2504 0.0286 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr8.hg19:g.60805861T>C NA hg19 0.02 -0.368472 TTAxACA COVERED NOVEL 0 1 3.911304 KEEP 0 0 0 13 392 TT 0.994391 0.894269 0 3 60 111 0 0 7.838775 39 60 1425 61 0.071429 0.899314 CA8 767 __UNKNOWN__ __UNKNOWN__ 8 61144790 61144790 __UNKNOWN__ Intron SNP G G T rs73683396 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:61144790G>T ENST00000317995.4 - 4 778 CA8_ENST00000528666.1_Intron NM_004056.4 NP_004047.3 P35219 CAH8_HUMAN carbonic anhydrase VIII NA NA one-carbon metabolic process (GO:0006730)|phosphatidylinositol-mediated signaling (GO:0048015) cytoplasm (GO:0005737) carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270) endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1) 16 all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474) Zonisamide(DB00909) TTTACAAAATGATTTAGAAAT 0.353 NA G||| 1559 0.311302 0.4047 0.2565 5008 , , NA 16981 0.2867 NA 0.3062 False NA ,,, NA NA NA 2504 0.2546 NA NA NA NA 0 G 480,904 81,318,293 35 32 33 0 0 8 dbSNP_130 33 892,2290 125,642,824 no intron CA8 NM_004056.4 206,960,1117 TT,TG,GG 28.0327,34.6821,30.0482 61144790 1372,3194 692 1591 2283 SO:0001627 intron_variant L04656 CCDS6174.1 8q12.1 2012-08-21 ENSG00000178538 ENSG00000178538 767 Carbonic anhydrases 1382 protein-coding gene gene with protein product 114815 CALS NA 17219437 Standard NM_004056 NA Approved CARP uc003xtz.1 P35219 OTTHUMG00000165325 ENST00000317995.4:c.513+52C>A chr8.hg19:g.61144790G>T NA A8K0A5|B3KQZ7|Q32MY2 hg19 CCDS6174.1 0.02 8.662582 AATxATT COVERED NOVEL CA8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000383445.1 0 9.02949 KEEP 0 0 0 30 1067 GG 0.999997 0.999997 0 - 9 60 303 0 0 18.790346 195 60 7448 274 ENST00000317995.4 0.044118 1 CHD7 55636 __UNKNOWN__ __UNKNOWN__ 8 61763827 61763827 __UNKNOWN__ Missense_Mutation SNP G G T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:61763827G>T ENST00000423902.2 + 28 6093 c.5614G>T c.(5614-5616)Gca>Tca p.A1872S CHD7_ENST00000524602.1_Intron NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 1872 NA adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386) NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) CAAGGAATTTGCAAATTCTCC 0.378 NA NA NA NA NA NA NA NA NA NA NA 0 58 54 55 NA NA 8 NA 61763827 1890 4084 5974 SO:0001583 missense AB037837 CCDS47865.1 8q12.2 2014-09-17 ENSG00000171316 55636 20626 protein-coding gene gene with protein product 608892 CHARGE association CRG NA 15300250, 18834967 Standard XM_098762 NM_017780 NA Approved KIAA1416, FLJ20357, FLJ20361 uc003xue.3 Q9P2D1 ENST00000423902.2:c.5614G>T chr8.hg19:g.61763827G>T ENSP00000392028:p.Ala1872Ser NA D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3 hg19 CCDS47865.1 0.02 4.27935 TTTxCAA COVERED . . . . . . . . . . G 10.35 1.326391 0.24080 . . ENSG00000171316 ENST00000307121;ENST00000423902 D 0.87729 -2.29 5.58 4.69 0.59074 . 0.126142 0.53938 D 0.000048 T 0.74884 0.3775 N 0.11789 0.175 0.44275 D 0.99713 B 0.15141 0.012 B 0.15484 0.013 T 0.69339 -0.5171 10 0.06365 T 0.9 -8.2716 16.7408 0.85459 0.0:0.1294:0.8706:0.0 . 1872 Q9P2D1 CHD7_HUMAN S 1872 ENSP00000392028:A1872S ENSP00000307304:A1872S A + 1 0 CHD7 61926381 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 6.194000 0.72082 1.470000 0.48102 0.650000 0.86243 GCA NOVEL CHD7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000383468.2 0 6.019798 KEEP 0 0 0 20 721 GG 0.999869 0.999869 0 + 8 60 285 0 0 19.439199 116 60 4369 172 ENST00000423902.2 0.064516 0.999999 AC022182.1 0 __UNKNOWN__ __UNKNOWN__ 8 61851466 61851466 __UNKNOWN__ lincRNA SNP T T C rs3748648 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:61851466T>C ENST00000527672.1 + 0 323 NA NA NA GAGTCTGATCTCCTACAGCTG 0.502 NA T||| 1295 0.258586 0.1452 0.5317 5008 , , NA 21112 0.2123 NA 0.4115 False NA ,,, NA NA NA 2504 0.1084 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000527672.1: chr8.hg19:g.61851466T>C NA hg19 0.02 2.250882 ATCxCCT COVERED NOVEL AC022182.1-002 KNOWN basic lincRNA NA lincRNA OTTHUMT00000383484.1 2 2.706408 KEEP 0 0 0 9 287 TT 0.99254 0.992102 0 + 6 60 199 0 0 13.502744 78 60 2813 117 ENST00000527672.1 0.071429 0.999559 ASPH 444 __UNKNOWN__ __UNKNOWN__ 8 62496438 62496438 __UNKNOWN__ Intron SNP C C A rs539482167 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:62496438C>A ENST00000379454.4 - 15 1250 ASPH_ENST00000523897.1_Intron|ASPH_ENST00000541428.1_Intron NM_004318.3 NP_004309.2 Q12797 ASPH_HUMAN aspartate beta-hydroxylase NA NA activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198) calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017) calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198) breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 Lung SC(2;0.153) Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101) L-Aspartic Acid(DB00128)|Succinic acid(DB00139) TTTTTTTTAACAAATCAAGAG 0.333 NA c||| 9 0.00179712 0.003 0.0014 5008 , , NA 14200 0.0 NA 0.0 False NA ,,, NA NA NA 2504 0.0041 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF224468 CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1 8q12.1 2008-02-05 ENSG00000198363 ENSG00000198363 444 1.14.11.16 757 protein-coding gene gene with protein product junctin, humbug, junctate 600582 NA 7821814, 10974562 Standard NM_004318 NM_004318 NA Approved CASQ2BP1, BAH, JCTN, HAAH uc003xuj.3 Q12797 OTTHUMG00000164375 ENST00000379454.4:c.1062+64G>T chr8.hg19:g.62496438C>A NA A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0 hg19 CCDS34898.1 0.02 0.566989 TAAxAAA COVERED NOVEL ASPH-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000378510.3 1 3.539073 KEEP 0 1 8 15 436 CC 0.997832 0.997771 0 - 15 60 183 0 0 8.078568 81 60 2280 132 ENST00000379454.4 0.15625 0.99994 ASPH 444 __UNKNOWN__ __UNKNOWN__ 8 62537309 62537309 __UNKNOWN__ Intron SNP A A G rs6549 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:62537309A>G ENST00000379454.4 - 14 1122 ASPH_ENST00000517903.1_3'UTR|ASPH_ENST00000518068.1_3'UTR|ASPH_ENST00000522919.1_Intron|ASPH_ENST00000523897.1_Intron|ASPH_ENST00000541428.1_Intron|ASPH_ENST00000356457.5_3'UTR NM_004318.3 NP_004309.2 Q12797 ASPH_HUMAN aspartate beta-hydroxylase NA NA activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198) calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017) calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198) breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 Lung SC(2;0.153) Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101) L-Aspartic Acid(DB00128)|Succinic acid(DB00139) ACTTACTTTTACTCATTCATC 0.279 NA A||| 1702 0.339856 0.0658 0.4697 5008 , , NA 15738 0.4722 NA 0.5139 False NA ,,, NA NA NA 2504 0.3027 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF224468 CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1 8q12.1 2008-02-05 ENSG00000198363 ENSG00000198363 444 1.14.11.16 757 protein-coding gene gene with protein product junctin, humbug, junctate 600582 NA 7821814, 10974562 Standard NM_004318 NM_004318 NA Approved CASQ2BP1, BAH, JCTN, HAAH uc003xuj.3 Q12797 OTTHUMG00000164375 ENST00000379454.4:c.935-5731T>C chr8.hg19:g.62537309A>G NA A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0 hg19 CCDS34898.1 0.02 10.987288 TTTxCTC COVERED NOVEL ASPH-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000378510.3 2 12.369023 KEEP 0 1 37 54 1646 AA 1 1 0 - 21 60 758 0 0 53.222763 270 60 9578 420 ENST00000379454.4 0.072165 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 62627510 62627510 __UNKNOWN__ IGR SNP C C G rs4272369 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:62627510C>G NA NA MIR4470 (92 upstream) : RP11-280G9.1 (44142 downstream) NA NA NA CGGAGTGCGCCGCTTCTAGGC 0.597 NA C||| 2478 0.494808 0.4312 0.5634 5008 , , NA 16596 0.5774 NA 0.5755 False NA ,,, NA NA NA 2504 0.364 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr8.hg19:g.62627510C>G NA hg19 0.02 2.569712 CGCxGCT COVERED NOVEL 0 0 13.842928 KEEP 0 0 0 46 1508 CC 1 0.986153 0 6 60 219 0 0 16.340153 53 60 1766 120 0.101695 0.986153 GGH 8836 __UNKNOWN__ __UNKNOWN__ 8 63948198 63948198 __UNKNOWN__ Intron SNP A A C rs34099334|rs371971162 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:63948198A>C ENST00000260118.6 - 2 627 NM_003878.2 NP_003869.1 Q92820 GGH_HUMAN gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase) NA NA glutamine metabolic process (GO:0006541)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to insulin (GO:0032868)|response to zinc ion (GO:0010043) cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634) exopeptidase activity (GO:0008238)|gamma-glutamyl-peptidase activity (GO:0034722)|omega peptidase activity (GO:0008242) breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1) 11 Breast(64;0.0716) all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131) Folic Acid(DB00158)|Methotrexate(DB00563) AAAAAAAAAAAAAACACTGAA 0.428 NA A||| 1722 0.34385 0.1172 0.3934 5008 , , NA 15961 0.6071 NA 0.3211 False NA ,,, NA NA NA 2504 0.3671 NA NA NA NA 0 49 54 52 NA NA 8 NA 63948198 2203 4300 6503 SO:0001627 intron_variant U55206 CCDS6177.1 8q12.3 2008-02-05 ENSG00000137563 ENSG00000137563 8836 3.4.19.9 4248 protein-coding gene gene with protein product 601509 NA 8816764, 10570974 Standard NM_003878 NA Approved uc003xuw.3 Q92820 OTTHUMG00000164365 ENST00000260118.6:c.224+16T>G chr8.hg19:g.63948198A>C NA hg19 CCDS6177.1 0.02 11.781537 AAAxAAA COVERED NOVEL GGH-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000378453.1 5 21.962953 KEEP 0 0 0 73 2227 AA 1 1 0 - 10 60 377 1 0 24.372001 233 70 8401 413 ENST00000260118.6 0.041152 1 GGH 8836 __UNKNOWN__ __UNKNOWN__ 8 63951237 63951237 __UNKNOWN__ Missense_Mutation SNP C C T rs11545077 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:63951237C>T ENST00000260118.6 - 1 493 c.91G>A c.(91-93)Gcc>Acc p.A31T NM_003878.2 NP_003869.1 Q92820 GGH_HUMAN gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase) 31 Gamma-glutamyl hydrolase. {ECO:0000255|PROSITE-ProRule:PRU00607}. NA A -> T (in dbSNP:rs11545077). glutamine metabolic process (GO:0006541)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to insulin (GO:0032868)|response to zinc ion (GO:0010043) cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634) exopeptidase activity (GO:0008238)|gamma-glutamyl-peptidase activity (GO:0034722)|omega peptidase activity (GO:0008242) breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1) 11 Breast(64;0.0716) all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131) Folic Acid(DB00158)|Methotrexate(DB00563) GGCTTCTTGGCGGTGTCGCCG 0.726 NA C||| 1005 0.200679 0.1051 0.2046 5008 , , NA 11929 0.2183 NA 0.2505 False NA ,,, NA NA NA 2504 0.2577 NA NA NA NA 0 C THR/ALA 573,3819 35,503,1658 15 15 15 91 -8 0 8 dbSNP_120 15 2151,6439 264,1623,2408 yes missense GGH NM_003878.2 58 299,2126,4066 TT,TC,CC 25.0407,13.0464,20.9829 benign 31/319 63951237 2724,10258 2196 4295 6491 SO:0001583 missense U55206 CCDS6177.1 8q12.3 2008-02-05 ENSG00000137563 ENSG00000137563 8836 3.4.19.9 4248 protein-coding gene gene with protein product 601509 NA 8816764, 10570974 Standard NM_003878 NA Approved uc003xuw.3 Q92820 OTTHUMG00000164365 ENST00000260118.6:c.91G>A chr8.hg19:g.63951237C>T ENSP00000260118:p.Ala31Thr NA hg19 CCDS6177.1 0.02 9.490067 TGGxGGT COVERED 443 0.20283882783882784 46 0.09349593495934959 74 0.20441988950276244 127 0.22202797202797203 196 0.25857519788918204 C 8.288 0.817065 0.16607 0.130464 0.250407 ENSG00000137563 ENST00000260118 T 0.21543 2.0 4.08 -7.97 0.01139 . 0.792035 0.11203 N 0.588636 T 0.00012 0.0000 N 0.04090 -0.28 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.39921 -0.9590 9 0.26408 T 0.33 -13.8596 0.7201 0.00939 0.2962:0.13:0.3164:0.2574 rs11545077;rs13270305;rs58961784;rs13270305 31 Q92820 GGH_HUMAN T 31 ENSP00000260118:A31T ENSP00000260118:A31T A - 1 0 GGH 64113791 0.000000 0.05858 0.000000 0.03702 0.653000 0.38743 -1.288000 0.02783 -1.754000 0.01321 0.313000 0.20887 GCC NOVEL GGH-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000378453.1 1 33.085671 KEEP 0 3 85 140 4765 CC 1 1 0 - 8 60 278 0 0 15.858208 272 60 9482 549 ENST00000260118.6 0.028571 1 GGH 8836 __UNKNOWN__ __UNKNOWN__ 8 63951728 63951728 __UNKNOWN__ 5'UTR SNP G G A rs3758149 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:63951728G>A ENST00000260118.6 - 0 2 NM_003878.2 NP_003869.1 Q92820 GGH_HUMAN gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase) NA NA glutamine metabolic process (GO:0006541)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to insulin (GO:0032868)|response to zinc ion (GO:0010043) cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634) exopeptidase activity (GO:0008238)|gamma-glutamyl-peptidase activity (GO:0034722)|omega peptidase activity (GO:0008242) breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1) 11 Breast(64;0.0716) all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131) Folic Acid(DB00158)|Methotrexate(DB00563) CCTCGAGAGGGGAGGTTGGGT 0.637 NA G||| 1160 0.231629 0.1672 0.2277 5008 , , NA 14398 0.2192 NA 0.2783 False NA ,,, NA NA NA 2504 0.2863 NA NA NA NA 0 GRCh37 CR035863 GGH R rs3758149 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant U55206 CCDS6177.1 8q12.3 2008-02-05 ENSG00000137563 ENSG00000137563 8836 3.4.19.9 4248 protein-coding gene gene with protein product 601509 NA 8816764, 10570974 Standard NM_003878 NA Approved uc003xuw.3 Q92820 OTTHUMG00000164365 ENST00000260118.6:c.-401C>T chr8.hg19:g.63951728G>A NA hg19 CCDS6177.1 0.02 6.630077 AGGxGAG COVERED NOVEL GGH-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000378453.1 0 10.50241 KEEP 0 2 63 57 1986 GG 1 1 0 - 7 60 232 0 0 14.259856 145 60 5413 271 ENST00000260118.6 0.046053 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 64222804 64222804 __UNKNOWN__ IGR SNP T T C rs4132398 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:64222804T>C NA NA RN7SL135P (75335 upstream) : CTD-3046C4.1 (74592 downstream) NA NA NA tggtatgtgatttgttttggc 0.383 NA C||| 2366 0.472444 0.379 0.4352 5008 , , NA 20726 0.881 NA 0.1899 False NA ,,, NA NA NA 2504 0.4949 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr8.hg19:g.64222804T>C NA hg19 0.02 2.038573 TGAxTTG COVERED NOVEL 0 0 2.407232 KEEP 0 0 0 8 254 TT 0.99257 0.990784 0 7 60 253 0 0 18.583113 67 60 2465 101 0.094595 0.9982 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 65711446 65711446 __UNKNOWN__ IGR SNP G G T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:65711446G>T NA NA CYP7B1 (128 upstream) : RP11-1D12.2 (2346 downstream) NA NA NA AGGAAGAAGGGCCAAGGAAGG 0.612 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr8.hg19:g.65711446G>T NA hg19 0.02 1.769529 AGGxCCA COVERED NOVEL 0 1 4.260192 KEEP 0 8 70 41 1149 GG 1 1 0 16 60 261 0 0 13.309825 115 60 3010 204 0.122137 1 CTD-3025N20.2 0 __UNKNOWN__ __UNKNOWN__ 8 66444074 66444074 __UNKNOWN__ lincRNA SNP T T A rs146982772 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:66444074T>A ENST00000520902.1 - 0 1597 NR_033893.1 NA NA NA ttgagaatgatcatcataaga 0.343 NA T||| 6 0.00119808 0.0 0.0 5008 , , NA 21384 0.006 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000520902.1: chr8.hg19:g.66444074T>A NA hg19 0.02 8.580922 TGAxCAT COVERED NOVEL CTD-3025N20.2-001 KNOWN basic|exp_conf lincRNA NA lincRNA OTTHUMT00000378479.1 2 5.114439 KEEP 0 0 0 17 539 TT 0.999366 0.999366 0 - 12 60 415 0 0 27.502324 190 60 6814 265 ENST00000520902.1 0.059406 1 TRIM55 84675 __UNKNOWN__ __UNKNOWN__ 8 67072219 67072219 __UNKNOWN__ Intron SNP T T C rs4737767 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:67072219T>C ENST00000315962.4 + 9 1897 TRIM55_ENST00000353317.5_Intron|TRIM55_ENST00000276573.7_Intron|TRIM55_ENST00000350034.4_Intron NM_184085.1 NP_908973.1 Q9BYV6 TRI55_HUMAN tripartite motif containing 55 NA NA signal transduction (GO:0007165) cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634) identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 39 Lung NSC(129;0.138)|all_lung(136;0.221) Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) tggctttccctttcatttctt 0.313 NA T||| 111 0.0221645 0.0008 0.0447 5008 , , NA 18244 0.0744 NA 0.003 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ291712 CCDS6184.1, CCDS6185.1, CCDS6186.1, CCDS6187.1 8q13.1 2013-01-09 2011-01-25 2004-11-17 ENSG00000147573 ENSG00000147573 84675 RING-type (C3HC4) zinc fingers, Tripartite motif containing / Tripartite motif containing 14215 protein-coding gene gene with protein product 606469 ring finger protein 29, tripartite motif-containing 55 RNF29 NA 11243782 Standard NM_184085 NM_033058 NA Approved MURF-2 uc003xvv.3 Q9BYV6 OTTHUMG00000164473 ENST00000315962.4:c.1524+5650T>C chr8.hg19:g.67072219T>C NA B3KRC0|B3KRJ3|Q53XX3|Q8IUD9|Q8IUE4|Q96DV2|Q96DV3|Q9BYV5 hg19 CCDS6184.1 0.02 11.819673 CCCxTTC COVERED NOVEL TRIM55-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000378921.1 4 13.23813 KEEP 0 0 0 44 1427 TT 1 1 0 + 10 60 391 0 0 25.03133 277 60 10094 403 ENST00000315962.4 0.034843 1 RRS1 23212 __UNKNOWN__ __UNKNOWN__ 8 67341938 67341938 __UNKNOWN__ Missense_Mutation SNP G G T rs3739336 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:67341938G>T ENST00000320270.2 + 1 676 c.572G>T c.(571-573)cGt>cTt p.R191L NM_015169.3 NP_055984.1 Q15050 RRS1_HUMAN RRS1 ribosome biogenesis regulator homolog (S. cerevisiae) 191 NA R -> L (in dbSNP:rs3739336). hematopoietic progenitor cell differentiation (GO:0002244)|mitotic metaphase plate congression (GO:0007080)|ribosome biogenesis (GO:0042254) condensed nuclear chromosome (GO:0000794)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|nucleus (GO:0005634) poly(A) RNA binding (GO:0044822) kidney(2)|lung(2) 4 Lung NSC(129;0.197) Epithelial(68;0.0391)|all cancers(69;0.0898)|BRCA - Breast invasive adenocarcinoma(89;0.111)|OV - Ovarian serous cystadenocarcinoma(28;0.226) AACCGGCTGCGTAACCTGGCC 0.647 NA G||| 310 0.061901 0.0045 0.1138 5008 , , NA 14571 0.1597 NA 0.0378 False NA ,,, NA NA NA 2504 0.0266 NA NA NA NA 0 G LEU/ARG 35,4349 1,33,2158 22 25 24 572 4.9 1 8 dbSNP_107 24 339,8211 11,317,3947 yes missense RRS1 NM_015169.3 102 12,350,6105 TT,TG,GG 3.9649,0.7984,2.8916 probably-damaging 191/366 67341938 374,12560 2192 4275 6467 SO:0001583 missense BC001811 CCDS6189.1 8q13.1 2013-10-22 ENSG00000179041 ENSG00000179041 23212 17083 protein-coding gene gene with protein product NA 7788527, 10688653 Standard NM_015169 NM_015169 NA Approved KIAA0112 uc003xwa.3 Q15050 OTTHUMG00000164765 ENST00000320270.2:c.572G>T chr8.hg19:g.67341938G>T ENSP00000322396:p.Arg191Leu NA Q9BUX8 hg19 CCDS6189.1 0.02 12.583933 TGCxTAA COVERED 165 0.07554945054945054 2 0.0040650406504065045 28 0.07734806629834254 115 0.20104895104895104 20 0.026385224274406333 G 22.2 4.258576 0.80246 0.007984 0.039649 ENSG00000179041 ENST00000320270 T 0.26067 1.76 5.78 4.91 0.64330 . 0.052734 0.85682 D 0.000000 T 0.00073 0.0002 M 0.86953 2.85 0.23572 P 0.99738513 D 0.76494 0.999 D 0.78314 0.991 T 0.05468 -1.0883 9 0.72032 D 0.01 -9.9524 12.5559 0.56252 0.0807:0.0:0.9193:0.0 rs3739336;rs3739336 191 Q15050 RRS1_HUMAN L 191 ENSP00000322396:R191L ENSP00000322396:R191L R + 2 0 RRS1 67504492 0.998000 0.40836 0.998000 0.56505 0.853000 0.48598 2.620000 0.46410 1.443000 0.47586 0.650000 0.86243 CGT NOVEL RRS1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000380126.1 2 58.925945 KEEP 0 0 0 196 6639 GG 1 1 0 + 12 60 415 0 0 24.879053 324 60 11182 662 ENST00000320270.2 0.035714 1 ADHFE1 137872 __UNKNOWN__ __UNKNOWN__ 8 67372743 67372743 __UNKNOWN__ Intron SNP G G T rs3824263 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:67372743G>T ENST00000396623.3 + 13 1351 C8orf46_ENST00000482608.2_Intron|ADHFE1_ENST00000496501.1_Intron|ADHFE1_ENST00000415254.1_Intron NM_144650.2 NP_653251.2 Q8IWW8 HOT_HUMAN alcohol dehydrogenase, iron containing, 1 NA NA 2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|molecular hydrogen transport (GO:0015993)|small molecule metabolic process (GO:0044281) mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739) hydroxyacid-oxoacid transhydrogenase activity (GO:0047988)|metal ion binding (GO:0046872) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 29 Lung NSC(129;0.197) Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226) AAGGAGCCTAGCGCCTCCAGA 0.592 NA G||| 498 0.0994409 0.1089 0.0951 5008 , , NA 16711 0.1964 NA 0.0477 False NA ,,, NA NA NA 2504 0.0429 NA NA NA NA 0 G 451,3955 213.1+/-232.8 27,397,1779 37 36 36 1.5 0 8 dbSNP_107 36 409,8191 127.7+/-186.0 15,379,3906 no intron ADHFE1 NM_144650.2 42,776,5685 TT,TG,GG 4.7558,10.236,6.6123 67372743 860,12146 2203 4300 6503 SO:0001627 intron_variant AK056992 CCDS6190.2 8q12.3 2013-05-21 ENSG00000147576 ENSG00000147576 137872 1.1.99.24 Alcohol dehydrogenases 16354 protein-coding gene gene with protein product hydroxyacid-oxoacid transhydrogenase 611083 NA 12592711 Standard NM_144650 NM_144650 NA Approved ADHFe1, FLJ32430 uc003xwb.4 Q8IWW8 OTTHUMG00000150215 ENST00000396623.3:c.1320+43G>T chr8.hg19:g.67372743G>T NA B4DTJ8|Q49A19|Q68CI7|Q6P2B6|Q96MF9 hg19 CCDS6190.2 0.02 2.045399 CTAxCGC COVERED NOVEL ADHFE1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000316867.3 0 5.391201 KEEP 0 0 0 18 608 GG 0.999859 0.990825 0 + 7 60 257 0 0 19.556925 55 60 2031 87 ENST00000396623.3 0.112903 0.990964 ADHFE1 137872 __UNKNOWN__ __UNKNOWN__ 8 67380737 67380737 __UNKNOWN__ 3'UTR SNP C C A rs12265 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:67380737C>A ENST00000396623.3 + 0 1585 C8orf46_ENST00000482608.2_Intron|ADHFE1_ENST00000496501.1_3'UTR|ADHFE1_ENST00000415254.1_3'UTR NM_144650.2 NP_653251.2 Q8IWW8 HOT_HUMAN alcohol dehydrogenase, iron containing, 1 NA NA 2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|molecular hydrogen transport (GO:0015993)|small molecule metabolic process (GO:0044281) mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739) hydroxyacid-oxoacid transhydrogenase activity (GO:0047988)|metal ion binding (GO:0046872) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 29 Lung NSC(129;0.197) Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226) GGAAATTCCCCAAAGCTCAGA 0.458 NA C||| 499 0.0996406 0.1097 0.0951 5008 , , NA 17826 0.1964 NA 0.0477 False NA ,,, NA NA NA 2504 0.0429 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK056992 CCDS6190.2 8q12.3 2013-05-21 ENSG00000147576 ENSG00000147576 137872 1.1.99.24 Alcohol dehydrogenases 16354 protein-coding gene gene with protein product hydroxyacid-oxoacid transhydrogenase 611083 NA 12592711 Standard NM_144650 NM_144650 NA Approved ADHFe1, FLJ32430 uc003xwb.4 Q8IWW8 OTTHUMG00000150215 ENST00000396623.3:c.*150C>A chr8.hg19:g.67380737C>A NA B4DTJ8|Q49A19|Q68CI7|Q6P2B6|Q96MF9 hg19 CCDS6190.2 0.02 6.759744 CCCxAAA COVERED NOVEL ADHFE1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000316867.3 0 5.717483 KEEP 0 0 0 19 624 CC 0.99986 0.99986 0 + 8 60 271 0 0 17.172086 152 60 5508 181 ENST00000396623.3 0.05 1 C8orf46 254778 __UNKNOWN__ __UNKNOWN__ 8 67425696 67425696 __UNKNOWN__ Intron SNP C C T rs78008917 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:67425696C>T ENST00000522977.1 + 4 323 C8orf46_ENST00000482608.2_Intron|C8orf46_ENST00000305454.3_Intron|C8orf46_ENST00000521495.1_Intron|C8orf46_ENST00000480005.1_Intron Q8TAG6 CH046_HUMAN chromosome 8 open reading frame 46 NA NA endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(2) 6 Epithelial(68;0.0224)|BRCA - Breast invasive adenocarcinoma(89;0.0508)|all cancers(69;0.0558)|OV - Ovarian serous cystadenocarcinoma(28;0.226) TCAGTCCCCCCACTTGCAGAC 0.607 NA C||| 424 0.0846645 0.1203 0.0749 5008 , , NA 18896 0.1687 NA 0.0119 False NA ,,, NA NA NA 2504 0.0317 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC028400 CCDS6191.2 8q13.1 2005-08-09 ENSG00000169085 ENSG00000169085 254778 28498 protein-coding gene gene with protein product NA 12477932 Standard NM_152765 NM_152765 NA Approved MGC33510 uc003xwg.3 Q8TAG6 OTTHUMG00000156998 ENST00000522977.1:c.281-79C>T chr8.hg19:g.67425696C>T NA B2RDC3|B4DFU4|C9J814|C9JCS3 hg19 0.02 7.112107 CCCxACT COVERED NOVEL C8orf46-014 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000379220.2 0 6.920296 KEEP 0 0 0 23 763 CC 0.999892 0.999892 0 + 6 60 232 0 0 15.07335 147 60 5365 197 ENST00000522977.1 0.039216 1 C8orf46 254778 __UNKNOWN__ __UNKNOWN__ 8 67428060 67428060 __UNKNOWN__ Intron SNP T T C rs12547731 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:67428060T>C ENST00000522977.1 + 5 421 C8orf46_ENST00000305454.3_Intron|C8orf46_ENST00000521495.1_Intron Q8TAG6 CH046_HUMAN chromosome 8 open reading frame 46 NA NA endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(2) 6 Epithelial(68;0.0224)|BRCA - Breast invasive adenocarcinoma(89;0.0508)|all cancers(69;0.0558)|OV - Ovarian serous cystadenocarcinoma(28;0.226) CCACTCTTCTTAAGGGCAAAA 0.522 NA C||| 571 0.114018 0.2496 0.0778 5008 , , NA 20264 0.1478 NA 0.0099 False NA ,,, NA NA NA 2504 0.0286 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC028400 CCDS6191.2 8q13.1 2005-08-09 ENSG00000169085 ENSG00000169085 254778 28498 protein-coding gene gene with protein product NA 12477932 Standard NM_152765 NM_152765 NA Approved MGC33510 uc003xwg.3 Q8TAG6 OTTHUMG00000156998 ENST00000522977.1:c.379-68T>C chr8.hg19:g.67428060T>C NA B2RDC3|B4DFU4|C9J814|C9JCS3 hg19 0.02 6.543754 TCTxAAG COVERED NOVEL C8orf46-014 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000379220.2 0 5.713303 KEEP 0 0 0 19 524 TT 0.99986 0.99986 0 + 8 60 295 0 0 18.825465 187 60 6708 224 ENST00000522977.1 0.041026 1 C8orf46 254778 __UNKNOWN__ __UNKNOWN__ 8 67428218 67428218 __UNKNOWN__ 3'UTR SNP C C T rs16932952 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:67428218C>T ENST00000522977.1 + 0 512 C8orf46_ENST00000305454.3_Silent_p.C177C Q8TAG6 CH046_HUMAN chromosome 8 open reading frame 46 NA NA endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(2) 6 Epithelial(68;0.0224)|BRCA - Breast invasive adenocarcinoma(89;0.0508)|all cancers(69;0.0558)|OV - Ovarian serous cystadenocarcinoma(28;0.226) GTGCTTCCTGCGGCGTCCCCG 0.527 NA C||| 129 0.0257588 0.0 0.0663 5008 , , NA 19256 0.0804 NA 0.0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 C 2,4404 2.1+/-5.4 0,2,2201 60 56 57 531 -10.3 0.1 8 dbSNP_123 57 2,8598 2.2+/-6.3 0,2,4298 no coding-synonymous C8orf46 NM_152765.3 0,4,6499 TT,TC,CC 0.0233,0.0454,0.0308 177/208 67428218 4,13002 2203 4300 6503 SO:0001624 3_prime_UTR_variant BC028400 CCDS6191.2 8q13.1 2005-08-09 ENSG00000169085 ENSG00000169085 254778 28498 protein-coding gene gene with protein product NA 12477932 Standard NM_152765 NM_152765 NA Approved MGC33510 uc003xwg.3 Q8TAG6 OTTHUMG00000156998 ENST00000522977.1:c.*64C>T chr8.hg19:g.67428218C>T NA B2RDC3|B4DFU4|C9J814|C9JCS3 hg19 0.02 27.37905 CTGxGGC COVERED NOVEL C8orf46-014 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000379220.2 2 31.533534 KEEP 0 1 23 113 3942 CC 1 1 0 + 28 60 1046 0 0 68.579095 585 60 20671 935 ENST00000522977.1 0.045677 1 C8orf46 254778 __UNKNOWN__ __UNKNOWN__ 8 67428325 67428325 __UNKNOWN__ 3'UTR SNP C C T rs74540254 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:67428325C>T ENST00000522977.1 + 0 619 C8orf46_ENST00000305454.3_3'UTR Q8TAG6 CH046_HUMAN chromosome 8 open reading frame 46 NA NA endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(2) 6 Epithelial(68;0.0224)|BRCA - Breast invasive adenocarcinoma(89;0.0508)|all cancers(69;0.0558)|OV - Ovarian serous cystadenocarcinoma(28;0.226) TGACCCTCTTCAAGTGCCCTG 0.537 NA C||| 431 0.0860623 0.1241 0.0778 5008 , , NA 18524 0.1687 NA 0.0129 False NA ,,, NA NA NA 2504 0.0307 NA NA NA NA 0 C 490,3916 28,434,1741 17 17 17 0.2 0 8 dbSNP_131 17 78,8520 1,76,4222 no utr-3 C8orf46 NM_152765.3 29,510,5963 TT,TC,CC 0.9072,11.1212,4.3679 67428325 568,12436 2203 4299 6502 SO:0001624 3_prime_UTR_variant BC028400 CCDS6191.2 8q13.1 2005-08-09 ENSG00000169085 ENSG00000169085 254778 28498 protein-coding gene gene with protein product NA 12477932 Standard NM_152765 NM_152765 NA Approved MGC33510 uc003xwg.3 Q8TAG6 OTTHUMG00000156998 ENST00000522977.1:c.*171C>T chr8.hg19:g.67428325C>T NA B2RDC3|B4DFU4|C9J814|C9JCS3 hg19 0.02 14.471305 CTTxAAG COVERED NOVEL C8orf46-014 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000379220.2 0 20.165775 KEEP 0 0 0 67 2381 CC 1 1 0 + 16 60 575 0 0 36.525478 354 60 13569 514 ENST00000522977.1 0.043243 1 C8orf46 254778 __UNKNOWN__ __UNKNOWN__ 8 67429422 67429422 __UNKNOWN__ 3'UTR SNP G G A rs7832611 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:67429422G>A ENST00000305454.3 + 0 2176 NM_152765.3 NP_689978.2 Q8TAG6 CH046_HUMAN chromosome 8 open reading frame 46 NA NA endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(2) 6 Epithelial(68;0.0224)|BRCA - Breast invasive adenocarcinoma(89;0.0508)|all cancers(69;0.0558)|OV - Ovarian serous cystadenocarcinoma(28;0.226) TCTTCTATCAGTGAAAATGTC 0.274 NA A||| 640 0.127796 0.2685 0.0879 5008 , , NA 20009 0.1627 NA 0.0268 False NA ,,, NA NA NA 2504 0.0337 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC028400 CCDS6191.2 8q13.1 2005-08-09 ENSG00000169085 ENSG00000169085 254778 28498 protein-coding gene gene with protein product NA 12477932 Standard NM_152765 NM_152765 NA Approved MGC33510 uc003xwg.3 Q8TAG6 OTTHUMG00000156998 ENST00000305454.3:c.*1111G>A chr8.hg19:g.67429422G>A NA B2RDC3|B4DFU4|C9J814|C9JCS3 hg19 CCDS6191.2 0.02 3.991614 TCAxTGA COVERED NOVEL C8orf46-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347010.1 0 3.61185 KEEP 0 0 0 12 426 GG 0.993634 0.993633 0 + 8 60 291 0 0 19.733495 127 60 4793 171 ENST00000305454.3 0.059259 1 CPA6 57094 __UNKNOWN__ __UNKNOWN__ 8 68347613 68347613 __UNKNOWN__ Intron SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:68347613C>T ENST00000297770.4 - 9 1054 CPA6_ENST00000297769.4_Intron NM_020361.4 NP_065094.3 Q8N4T0 CBPA6_HUMAN carboxypeptidase A6 NA NA proteinaceous extracellular matrix (GO:0005578) metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270) NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5) 26 Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136) TCCCTCCCCCCAGCGCAGGGG 0.582 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF221594 CCDS6200.1 8q12.3 2012-02-10 ENSG00000165078 ENSG00000165078 57094 17245 protein-coding gene gene with protein product 609562 NA 11836249 Standard NM_020361 NM_020361 NA Approved CPAH uc003xxq.4 Q8N4T0 OTTHUMG00000164575 ENST00000297770.4:c.839-1138G>A chr8.hg19:g.68347613C>T NA Q8NEX8|Q8TDE8|Q9NRI9 hg19 CCDS6200.1 0.02 2.106638 CCCxAGC COVERED NOVEL CPA6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000379296.2 0 3.912921 KEEP 8 0 0 13 475 CC 0.994391 0.994196 0 - 5 49 188 0 0 12.826376 84 50 3170 124 ENST00000297770.4 0.05618 0.999804 PREX2 80243 __UNKNOWN__ __UNKNOWN__ 8 69104619 69104619 __UNKNOWN__ Missense_Mutation SNP C C T rs61753704 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:69104619C>T ENST00000288368.4 + 37 4740 c.4463C>T c.(4462-4464)tCg>tTg p.S1488L NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 1488 NA adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855) Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676) NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 CTGGTAGCCTCGTTTATCAGA 0.478 NA C||| 305 0.0609026 0.0446 0.0043 5008 , , NA 18241 0.1617 NA 0.002 False NA ,,, NA NA NA 2504 0.0798 NA NA NA NA 0 C LEU/SER 138,4268 98.0+/-136.7 3,132,2068 80 68 73 4463 4.9 1 8 dbSNP_129 73 5,8595 3.7+/-12.6 0,5,4295 yes missense PREX2 NM_024870.2 145 3,137,6363 TT,TC,CC 0.0581,3.1321,1.0995 probably-damaging 1488/1607 69104619 143,12863 2203 4300 6503 SO:0001583 missense AK024079 CCDS6201.1 8q13.1 2014-06-13 2008-09-15 2008-09-15 ENSG00000046889 ENSG00000046889 80243 Rho guanine nucleotide exchange factors 22950 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 129 612139 DEP domain containing 2 DEPDC2 NA 15304342, 15304343 Standard NM_025170 NM_024870 NA Approved DEP.2, FLJ12987, P-REX2, PPP1R129 uc003xxv.1 Q70Z35 OTTHUMG00000164402 ENST00000288368.4:c.4463C>T chr8.hg19:g.69104619C>T ENSP00000288368:p.Ser1488Leu NA B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961 hg19 CCDS6201.1 0.02 6.372533 CCTxGTT COVERED 130 0.05952380952380952 34 0.06910569105691057 1 0.0027624309392265192 93 0.16258741258741258 2 0.002638522427440633 C 25.0 4.590684 0.86851 0.031321 5.81E-4 ENSG00000046889 ENST00000288368 T 0.61742 0.08 4.89 4.89 0.63831 . 0.367956 0.27000 N 0.021425 T 0.00666 0.0022 M 0.64404 1.975 0.09310 P 0.99999767008 D 0.76494 0.999 D 0.63033 0.91 T 0.02047 -1.1223 9 0.59425 D 0.04 . 18.4181 0.90577 0.0:1.0:0.0:0.0 rs61753704 1488 Q70Z35 PREX2_HUMAN L 1488 ENSP00000288368:S1488L ENSP00000288368:S1488L S + 2 0 PREX2 69267173 0.998000 0.40836 0.999000 0.59377 0.994000 0.84299 3.747000 0.55134 2.427000 0.82271 0.467000 0.42956 TCG NOVEL PREX2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000378620.1 1 8.727753 KEEP 0 0 0 29 993 CC 0.999997 0.999997 0 + 8 60 296 0 0 19.411652 162 60 5695 242 ENST00000288368.4 0.047059 1 C8orf34 116328 __UNKNOWN__ __UNKNOWN__ 8 69351632 69351632 __UNKNOWN__ Intron SNP G G A rs77327351 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:69351632G>A ENST00000518698.1 + 2 618 C8orf34_ENST00000523686.1_Intron|C8orf34_ENST00000349492.3_Intron|C8orf34_ENST00000539993.1_Intron|C8orf34_ENST00000348340.2_Intron|C8orf34_ENST00000337103.4_5'UTR NM_052958.2 NP_443190.2 Q49A92 CH034_HUMAN chromosome 8 open reading frame 34 NA NA NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 36 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) tgtatataaagcagttagacc 0.348 NA G||| 57 0.0113818 0.0 0.0014 5008 , , NA 17126 0.0556 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB056652 CCDS6203.1, CCDS6203.2 8q13 2009-10-01 ENSG00000165084 ENSG00000165084 116328 30905 protein-coding gene gene with protein product vestibule 1 NA Standard NM_052958 NM_052958 NA Approved vest-1, VEST1 uc010lyz.3 Q49A92 OTTHUMG00000164438 ENST00000518698.1:c.328-102G>A chr8.hg19:g.69351632G>A NA A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28 hg19 CCDS6203.2 0.02 8.050147 AAAxCAG COVERED NOVEL C8orf34-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000378765.2 1 3.611807 KEEP 0 0 0 12 429 GG 0.993634 0.993634 0 + 11 60 391 0 0 25.458499 206 60 7631 238 ENST00000518698.1 0.050691 1 C8orf34 116328 __UNKNOWN__ __UNKNOWN__ 8 69434195 69434195 __UNKNOWN__ Silent SNP T T C rs2289831 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:69434195T>C ENST00000518698.1 + 6 1218 c.927T>C c.(925-927)agT>agC p.S309S C8orf34_ENST00000539993.1_Silent_p.S223S|C8orf34_ENST00000348340.2_Silent_p.S223S|C8orf34_ENST00000337103.4_Silent_p.S198S NM_052958.2 NP_443190.2 Q49A92 CH034_HUMAN chromosome 8 open reading frame 34 223 NA NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 36 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) GTGGCTCTAGTCCTGCAGGAA 0.403 NA C||| 1038 0.207268 0.4077 0.1455 5008 , , NA 16810 0.1121 NA 0.1392 False NA ,,, NA NA NA 2504 0.1483 NA NA NA NA 0 C , 1597,2809 664.7+/-401.4 286,1025,892 94 91 92 927,927 -0.8 0.9 8 dbSNP_100 92 1171,7429 765.0+/-407.6 79,1013,3208 no coding-synonymous,coding-synonymous C8orf34 NM_001195639.1,NM_052958.2 , 365,2038,4100 CC,CT,TT 13.6163,36.246,21.2825 , 309/374,309/539 69434195 2768,10238 2203 4300 6503 SO:0001819 synonymous_variant AB056652 CCDS6203.1, CCDS6203.2 8q13 2009-10-01 ENSG00000165084 ENSG00000165084 116328 30905 protein-coding gene gene with protein product vestibule 1 NA Standard NM_052958 NM_052958 NA Approved vest-1, VEST1 uc010lyz.3 Q49A92 OTTHUMG00000164438 ENST00000518698.1:c.927T>C chr8.hg19:g.69434195T>C NA A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28 hg19 CCDS6203.2 0.02 10.942857 TAGxCCT COVERED NOVEL C8orf34-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000378765.2 1 9.930842 KEEP 0 0 0 33 1083 TT 0.999998 0.999998 0 + 8 60 296 0 0 17.885405 254 60 9072 350 ENST00000518698.1 0.030534 1 C8orf34 116328 __UNKNOWN__ __UNKNOWN__ 8 69446119 69446119 __UNKNOWN__ Intron SNP A A G rs11987961 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:69446119A>G ENST00000518698.1 + 7 1396 C8orf34_ENST00000539993.1_Intron|C8orf34_ENST00000348340.2_3'UTR|C8orf34_ENST00000337103.4_Intron NM_052958.2 NP_443190.2 Q49A92 CH034_HUMAN chromosome 8 open reading frame 34 NA NA NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 36 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) AGTCAGTGGTATCAATTATTC 0.244 NA A||| 1083 0.216254 0.4395 0.1455 5008 , , NA 13315 0.1141 NA 0.1402 False NA ,,, NA NA NA 2504 0.1483 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB056652 CCDS6203.1, CCDS6203.2 8q13 2009-10-01 ENSG00000165084 ENSG00000165084 116328 30905 protein-coding gene gene with protein product vestibule 1 NA Standard NM_052958 NM_052958 NA Approved vest-1, VEST1 uc010lyz.3 Q49A92 OTTHUMG00000164438 ENST00000518698.1:c.1105+735A>G chr8.hg19:g.69446119A>G NA A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28 hg19 CCDS6203.2 0.02 4.501767 GGTxTCA COVERED NOVEL C8orf34-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000378765.2 0 3.309145 KEEP 0 0 0 11 337 AA 0.993072 0.993066 0 + 5 60 187 0 0 12.234907 106 60 3915 145 ENST00000518698.1 0.045045 0.999994 C8orf34 116328 __UNKNOWN__ __UNKNOWN__ 8 69446462 69446462 __UNKNOWN__ Intron SNP A A G rs11988777 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:69446462A>G ENST00000518698.1 + 7 1396 C8orf34_ENST00000539993.1_Intron|C8orf34_ENST00000348340.2_3'UTR|C8orf34_ENST00000337103.4_Intron NM_052958.2 NP_443190.2 Q49A92 CH034_HUMAN chromosome 8 open reading frame 34 NA NA NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 36 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) ATTCATGCTAACATTAAGGAG 0.398 NA G||| 1083 0.216254 0.438 0.1455 5008 , , NA 18593 0.1141 NA 0.1412 False NA ,,, NA NA NA 2504 0.1493 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB056652 CCDS6203.1, CCDS6203.2 8q13 2009-10-01 ENSG00000165084 ENSG00000165084 116328 30905 protein-coding gene gene with protein product vestibule 1 NA Standard NM_052958 NM_052958 NA Approved vest-1, VEST1 uc010lyz.3 Q49A92 OTTHUMG00000164438 ENST00000518698.1:c.1105+1078A>G chr8.hg19:g.69446462A>G NA A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28 hg19 CCDS6203.2 0.02 7.588393 CTAxCAT COVERED NOVEL C8orf34-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000378765.2 0 9.62817 KEEP 0 0 0 32 1017 AA 0.999997 0.999997 0 + 9 60 365 0 0 25.555563 159 60 5706 241 ENST00000518698.1 0.053571 1 C8orf34 116328 __UNKNOWN__ __UNKNOWN__ 8 69446901 69446901 __UNKNOWN__ Intron SNP G G C rs16934696 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:69446901G>C ENST00000518698.1 + 7 1396 C8orf34_ENST00000539993.1_Intron|C8orf34_ENST00000348340.2_3'UTR|C8orf34_ENST00000337103.4_Intron NM_052958.2 NP_443190.2 Q49A92 CH034_HUMAN chromosome 8 open reading frame 34 NA NA NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 36 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) GTTTGCTCACGTAGGTATGGG 0.473 NA g||| 920 0.183706 0.3245 0.1326 5008 , , NA 20790 0.1121 NA 0.1402 False NA ,,, NA NA NA 2504 0.1483 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB056652 CCDS6203.1, CCDS6203.2 8q13 2009-10-01 ENSG00000165084 ENSG00000165084 116328 30905 protein-coding gene gene with protein product vestibule 1 NA Standard NM_052958 NM_052958 NA Approved vest-1, VEST1 uc010lyz.3 Q49A92 OTTHUMG00000164438 ENST00000518698.1:c.1105+1517G>C chr8.hg19:g.69446901G>C NA A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28 hg19 CCDS6203.2 0.02 6.997776 CACxTAG COVERED NOVEL C8orf34-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000378765.2 1 4.514624 KEEP 0 0 0 15 519 GG 0.99649 0.99649 0 + 9 60 343 0 0 23.380237 158 60 5655 204 ENST00000518698.1 0.053892 1 C8orf34 116328 __UNKNOWN__ __UNKNOWN__ 8 69447548 69447548 __UNKNOWN__ Intron SNP T T A rs6984964 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:69447548T>A ENST00000518698.1 + 7 1396 C8orf34_ENST00000539993.1_Intron|C8orf34_ENST00000348340.2_3'UTR|C8orf34_ENST00000337103.4_Intron NM_052958.2 NP_443190.2 Q49A92 CH034_HUMAN chromosome 8 open reading frame 34 NA NA NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 36 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) TTTGTAGATGTGTGTGCTATA 0.269 NA A||| 1369 0.273363 0.6467 0.1657 5008 , , NA 15529 0.1121 NA 0.1402 False NA ,,, NA NA NA 2504 0.1483 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB056652 CCDS6203.1, CCDS6203.2 8q13 2009-10-01 ENSG00000165084 ENSG00000165084 116328 30905 protein-coding gene gene with protein product vestibule 1 NA Standard NM_052958 NM_052958 NA Approved vest-1, VEST1 uc010lyz.3 Q49A92 OTTHUMG00000164438 ENST00000518698.1:c.1105+2164T>A chr8.hg19:g.69447548T>A NA A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28 hg19 CCDS6203.2 0.02 7.859535 ATGxGTG COVERED NOVEL C8orf34-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000378765.2 2 5.412594 KEEP 0 0 0 18 526 TT 0.999859 0.999859 0 + 12 60 437 0 0 28.523427 238 60 8528 296 ENST00000518698.1 0.048 1 C8orf34 116328 __UNKNOWN__ __UNKNOWN__ 8 69699620 69699620 __UNKNOWN__ Intron SNP A A T rs7826534 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:69699620A>T ENST00000518698.1 + 12 1746 C8orf34_ENST00000539993.1_Intron|C8orf34_ENST00000325233.3_Intron|C8orf34_ENST00000337103.4_Intron NM_052958.2 NP_443190.2 Q49A92 CH034_HUMAN chromosome 8 open reading frame 34 NA NA NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 36 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) GATTATCCACATTAATGTTCA 0.299 NA A||| 812 0.162141 0.0552 0.111 5008 , , NA 17958 0.3611 NA 0.0815 False NA ,,, NA NA NA 2504 0.2209 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB056652 CCDS6203.1, CCDS6203.2 8q13 2009-10-01 ENSG00000165084 ENSG00000165084 116328 30905 protein-coding gene gene with protein product vestibule 1 NA Standard NM_052958 NM_052958 NA Approved vest-1, VEST1 uc010lyz.3 Q49A92 OTTHUMG00000164438 ENST00000518698.1:c.1456-58A>T chr8.hg19:g.69699620A>T NA A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28 hg19 CCDS6203.2 0.02 4.447189 CACxTTA COVERED NOVEL C8orf34-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000378765.2 0 2.406813 KEEP 0 0 0 8 242 AA 0.99257 0.99257 0 + 5 60 188 0 0 11.837972 134 60 4940 152 ENST00000518698.1 0.035971 1 C8orf34 116328 __UNKNOWN__ __UNKNOWN__ 8 69703541 69703541 __UNKNOWN__ Intron SNP G G A rs12676077 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:69703541G>A ENST00000518698.1 + 12 1840 C8orf34_ENST00000539993.1_Intron|C8orf34_ENST00000325233.3_3'UTR|C8orf34_ENST00000337103.4_Intron NM_052958.2 NP_443190.2 Q49A92 CH034_HUMAN chromosome 8 open reading frame 34 NA NA NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 36 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) atcagctctcgtgagaactca 0.458 NA G||| 815 0.16274 0.0545 0.111 5008 , , NA 16056 0.3641 NA 0.0815 False NA ,,, NA NA NA 2504 0.2219 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB056652 CCDS6203.1, CCDS6203.2 8q13 2009-10-01 ENSG00000165084 ENSG00000165084 116328 30905 protein-coding gene gene with protein product vestibule 1 NA Standard NM_052958 NM_052958 NA Approved vest-1, VEST1 uc010lyz.3 Q49A92 OTTHUMG00000164438 ENST00000518698.1:c.1549+3770G>A chr8.hg19:g.69703541G>A NA A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28 hg19 CCDS6203.2 0.02 9.654943 CTCxTGA COVERED NOVEL C8orf34-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000378765.2 3 11.738291 KEEP 0 0 0 39 1377 GG 1 1 0 + 13 60 481 0 0 32.995828 203 60 7324 309 ENST00000518698.1 0.060185 1 C8orf34 116328 __UNKNOWN__ __UNKNOWN__ 8 69703558 69703558 __UNKNOWN__ Intron SNP A A C rs12680154 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:69703558A>C ENST00000518698.1 + 12 1840 C8orf34_ENST00000539993.1_Intron|C8orf34_ENST00000325233.3_3'UTR|C8orf34_ENST00000337103.4_Intron NM_052958.2 NP_443190.2 Q49A92 CH034_HUMAN chromosome 8 open reading frame 34 NA NA NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 36 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) ctcattatcaagagaacaaca 0.463 NA c||| 1245 0.248602 0.2549 0.1311 5008 , , NA 16065 0.4712 NA 0.0835 False NA ,,, NA NA NA 2504 0.2638 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB056652 CCDS6203.1, CCDS6203.2 8q13 2009-10-01 ENSG00000165084 ENSG00000165084 116328 30905 protein-coding gene gene with protein product vestibule 1 NA Standard NM_052958 NM_052958 NA Approved vest-1, VEST1 uc010lyz.3 Q49A92 OTTHUMG00000164438 ENST00000518698.1:c.1549+3787A>C chr8.hg19:g.69703558A>C NA A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28 hg19 CCDS6203.2 0.02 6.472363 TCAxGAG COVERED NOVEL C8orf34-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000378765.2 1 10.229558 KEEP 0 0 0 34 1040 AA 0.999998 0.999998 0 + 12 60 419 0 0 28.79414 158 60 5908 235 ENST00000518698.1 0.070588 1 C8orf34 116328 __UNKNOWN__ __UNKNOWN__ 8 69703964 69703964 __UNKNOWN__ Intron SNP G G A rs7812412 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:69703964G>A ENST00000518698.1 + 12 1840 C8orf34_ENST00000539993.1_Intron|C8orf34_ENST00000325233.3_3'UTR|C8orf34_ENST00000337103.4_Intron NM_052958.2 NP_443190.2 Q49A92 CH034_HUMAN chromosome 8 open reading frame 34 NA NA NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 36 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) TTCTTCctgaggtcttaatgt 0.433 NA G||| 1242 0.248003 0.2526 0.1297 5008 , , NA 16537 0.4722 NA 0.0835 False NA ,,, NA NA NA 2504 0.2638 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB056652 CCDS6203.1, CCDS6203.2 8q13 2009-10-01 ENSG00000165084 ENSG00000165084 116328 30905 protein-coding gene gene with protein product vestibule 1 NA Standard NM_052958 NM_052958 NA Approved vest-1, VEST1 uc010lyz.3 Q49A92 OTTHUMG00000164438 ENST00000518698.1:c.1549+4193G>A chr8.hg19:g.69703964G>A NA A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28 hg19 CCDS6203.2 0.02 9.109772 TGAxGTC COVERED NOVEL C8orf34-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000378765.2 2 7.223615 KEEP 0 0 0 24 858 GG 0.999909 0.999909 0 + 18 60 671 0 0 47.795505 226 60 8406 310 ENST00000518698.1 0.07377 1 C8orf34 116328 __UNKNOWN__ __UNKNOWN__ 8 69728008 69728008 __UNKNOWN__ Intron SNP A A G rs16935099 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:69728008A>G ENST00000518698.1 + 13 1840 C8orf34_ENST00000539993.1_Intron|C8orf34_ENST00000337103.4_Intron NM_052958.2 NP_443190.2 Q49A92 CH034_HUMAN chromosome 8 open reading frame 34 NA NA NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 36 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) ATGTAGTTTTAATATTAATTT 0.313 NA G||| 1095 0.21865 0.1233 0.1311 5008 , , NA 17245 0.4276 NA 0.1282 False NA ,,, NA NA NA 2504 0.2873 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB056652 CCDS6203.1, CCDS6203.2 8q13 2009-10-01 ENSG00000165084 ENSG00000165084 116328 30905 protein-coding gene gene with protein product vestibule 1 NA Standard NM_052958 NM_052958 NA Approved vest-1, VEST1 uc010lyz.3 Q49A92 OTTHUMG00000164438 ENST00000518698.1:c.1550-113A>G chr8.hg19:g.69728008A>G NA A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28 hg19 CCDS6203.2 0.02 11.627719 TTTxATA COVERED NOVEL C8orf34-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000378765.2 1 6.921062 KEEP 0 0 0 23 724 AA 0.999892 0.999892 0 + 15 60 570 0 0 39.466391 237 60 8401 284 ENST00000518698.1 0.059524 1 C8orf34 116328 __UNKNOWN__ __UNKNOWN__ 8 69730432 69730432 __UNKNOWN__ Intron SNP G G A rs16935106 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:69730432G>A ENST00000518698.1 + 14 1900 C8orf34_ENST00000539993.1_Intron|C8orf34_ENST00000337103.4_Intron NM_052958.2 NP_443190.2 Q49A92 CH034_HUMAN chromosome 8 open reading frame 34 NA NA NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 36 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) ATGTAAACATGTTATTAAGCA 0.303 NA G||| 1094 0.21845 0.1225 0.1311 5008 , , NA 16351 0.4276 NA 0.1282 False NA ,,, NA NA NA 2504 0.2873 NA NA NA NA 0 G 568,3836 242.5+/-252.5 32,504,1666 61 63 62 -1.6 0 8 dbSNP_123 62 1121,7473 225.7+/-261.6 70,981,3246 no intron C8orf34 NM_052958.2 102,1485,4912 AA,AG,GG 13.044,12.8974,12.9943 69730432 1689,11309 2202 4297 6499 SO:0001627 intron_variant AB056652 CCDS6203.1, CCDS6203.2 8q13 2009-10-01 ENSG00000165084 ENSG00000165084 116328 30905 protein-coding gene gene with protein product vestibule 1 NA Standard NM_052958 NM_052958 NA Approved vest-1, VEST1 uc010lyz.3 Q49A92 OTTHUMG00000164438 ENST00000518698.1:c.1610-42G>A chr8.hg19:g.69730432G>A NA A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28 hg19 CCDS6203.2 0.02 8.103074 CATxTTA COVERED NOVEL C8orf34-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000378765.2 1 6.019486 KEEP 0 0 0 20 719 GG 0.999863 0.999863 0 + 8 60 292 0 0 17.719065 237 60 9100 312 ENST00000518698.1 0.032653 1 C8orf34 116328 __UNKNOWN__ __UNKNOWN__ 8 69730488 69730488 __UNKNOWN__ 3'UTR SNP G G C rs16935109 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:69730488G>C ENST00000518698.1 + 0 1915 C8orf34_ENST00000539993.1_3'UTR|C8orf34_ENST00000337103.4_3'UTR NM_052958.2 NP_443190.2 Q49A92 CH034_HUMAN chromosome 8 open reading frame 34 NA NA NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 36 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) GTGAAACAGAGAGAAGAAGTT 0.279 NA C||| 1094 0.21845 0.1225 0.1311 5008 , , NA 15666 0.4276 NA 0.1282 False NA ,,, NA NA NA 2504 0.2873 NA NA NA NA 0 C 573,3833 771.4+/-413.8 32,509,1662 83 87 86 2.1 0.9 8 dbSNP_123 86 1129,7471 764.6+/-407.6 72,985,3243 no utr-3 C8orf34 NM_052958.2 104,1494,4905 CC,CG,GG 13.1279,13.005,13.0863 69730488 1702,11304 2203 4300 6503 SO:0001624 3_prime_UTR_variant AB056652 CCDS6203.1, CCDS6203.2 8q13 2009-10-01 ENSG00000165084 ENSG00000165084 116328 30905 protein-coding gene gene with protein product vestibule 1 NA Standard NM_052958 NM_052958 NA Approved vest-1, VEST1 uc010lyz.3 Q49A92 OTTHUMG00000164438 ENST00000518698.1:c.*7G>C chr8.hg19:g.69730488G>C NA A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28 hg19 CCDS6203.2 0.02 14.165307 AGAxAGA COVERED NOVEL C8orf34-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000378765.2 2 10.233733 KEEP 0 0 0 34 1230 GG 0.999998 0.999998 0 + 15 60 574 0 0 38.145427 311 60 11959 474 ENST00000518698.1 0.046012 1 RP11-744J10.3 0 __UNKNOWN__ __UNKNOWN__ 8 70358629 70358629 __UNKNOWN__ lincRNA SNP C C T rs386726489|rs6990272 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:70358629C>T ENST00000517343.1 - 0 374 NA NA NA TACAAACTTACACCTTTTCAG 0.343 NA T||| 2828 0.564696 0.6339 0.6254 5008 , , NA 18112 0.6409 NA 0.4553 False NA ,,, NA NA NA 2504 0.4622 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000517343.1: chr8.hg19:g.70358629C>T NA hg19 0.02 1.973878 TTAxACC COVERED NOVEL RP11-744J10.3-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000381791.1 0 2.407472 KEEP 0 0 0 8 269 CC 0.99257 0.989319 0 - 5 60 178 0 0 12.365362 65 60 2375 78 ENST00000517343.1 0.071429 0.996724 SLCO5A1 81796 __UNKNOWN__ __UNKNOWN__ 8 70744812 70744812 __UNKNOWN__ Missense_Mutation SNP G G A rs3750266 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:70744812G>A ENST00000524945.1 - 1 813 c.97C>T c.(97-99)Ctc>Ttc p.L33F SLCO5A1_ENST00000530307.1_Missense_Mutation_p.L33F|SLCO5A1_ENST00000528658.1_5'UTR|SLCO5A1_ENST00000260126.4_Missense_Mutation_p.L33F NM_001146008.1 NP_001139480.1 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, member 5A1 33 NA L -> F (in dbSNP:rs3750266). {ECO:0000269|PubMed:15489334}. integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) transporter activity (GO:0005215) NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) TTAGACCTGAGGGTCTCCGGC 0.657 NA OREG0018815 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) A||| 2461 0.491414 0.7315 0.3631 5008 , , NA 15742 0.3165 NA 0.4344 False NA ,,, NA NA NA 2504 0.4969 NA NA NA NA 0 A PHE/LEU,PHE/LEU,PHE/LEU 2969,1437 458.2+/-351.9 991,987,225 47 53 50 97,97,97 -1.3 0.3 8 dbSNP_107 50 3657,4943 609.8+/-395.6 774,2109,1417 yes missense,missense,missense SLCO5A1 NM_001146008.1,NM_001146009.1,NM_030958.2 22,22,22 1765,3096,1642 AA,AG,GG 42.5233,32.6146,49.0543 benign,benign,benign 33/688,33/794,33/849 70744812 6626,6380 2203 4300 6503 SO:0001583 missense AF205075 CCDS6205.1, CCDS55242.1, CCDS55243.1 8q13.1 2013-05-22 2003-11-25 2003-11-26 ENSG00000137571 ENSG00000137571 81796 Solute carriers 19046 protein-coding gene gene with protein product 613543 solute carrier family 21 (organic anion transporter), member 15 SLC21A15 NA 12507753 Standard NM_030958 NM_030958 NA Approved OATPRP4, OATP-J, OATP5A1 uc003xyl.3 Q9H2Y9 OTTHUMG00000165121 ENST00000524945.1:c.97C>T chr8.hg19:g.70744812G>A ENSP00000434422:p.Leu33Phe 1124 A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0 hg19 CCDS55243.1 0.02 8.358525 TGAxGGT COVERED 970 0.4441391941391941 339 0.6890243902439024 137 0.3784530386740331 176 0.3076923076923077 318 0.41952506596306066 A 0.009 -1.798019 0.00617 0.673854 0.425233 ENSG00000137571 ENST00000260126;ENST00000524945;ENST00000530307 T;T;T 0.38240 1.22;1.59;1.15 5.46 -1.34 0.09143 . 2.000140 0.02085 N 0.052642 T 0.00012 0.0000 N 0.01352 -0.895 0.80722 P 0.0 B;B;B;B 0.02656 0.0;0.0;0.0;0.0 B;B;B;B 0.04013 0.0;0.0;0.0;0.001 T 0.40627 -0.9553 9 0.02654 T 1 . 5.7082 0.17921 0.364:0.0:0.4771:0.1589 rs3750266;rs52837853;rs58741621;rs3750266 33;33;33;33 B4DR09;E9PKK5;Q9H2Y9;G3V1C0 .;.;SO5A1_HUMAN;. F 33 ENSP00000260126:L33F;ENSP00000434422:L33F;ENSP00000431611:L33F ENSP00000260126:L33F L - 1 0 SLCO5A1 70907366 0.669000 0.27502 0.316000 0.25252 0.322000 0.28314 0.014000 0.13333 -0.146000 0.11274 -1.763000 0.00667 CTC NOVEL SLCO5A1-004 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000381991.1 1 6.626616 KEEP 0 3 94 55 1972 GG 1 1 0 - 7 60 258 0 0 15.732677 209 60 7650 341 ENST00000524945.1 0.032407 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 70770097 70770097 __UNKNOWN__ IGR SNP T T C rs56009324 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:70770097T>C NA NA RP11-159H10.3 (2891 upstream) : RN7SL675P (64891 downstream) NA NA NA AAAACAATTATCACTTGGGTA 0.333 NA T||| 1690 0.33746 0.3253 0.2608 5008 , , NA 17180 0.3155 NA 0.2913 False NA ,,, NA NA NA 2504 0.4785 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr8.hg19:g.70770097T>C NA hg19 0.02 29.08739 TTAxCAC COVERED NOVEL 0 2 7.860449 KEEP 0 1 37 39 1280 TT 1 1 0 28 60 1012 0 0 64.334521 651 60 23708 870 0.041237 1 PRDM14 63978 __UNKNOWN__ __UNKNOWN__ 8 70978690 70978690 __UNKNOWN__ Silent SNP C C T rs3750227 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:70978690C>T ENST00000276594.2 - 5 1164 c.963G>A c.(961-963)acG>acA p.T321T NM_024504.3 NP_078780.1 Q9GZV8 PRD14_HUMAN PR domain containing 14 321 SET. {ECO:0000255|PROSITE- ProRule:PRU00190}. NA cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168) NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Breast(64;0.193) Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405) TCCAGTTCCCCGTACCTCCTT 0.413 NA C||| 810 0.161741 0.2042 0.0994 5008 , , NA 18073 0.3155 NA 0.0398 False NA ,,, NA NA NA 2504 0.1155 NA NA NA NSCLC(129;99 1813 5906 40656 46114) NA 0 C 802,3604 322.6+/-297.7 71,660,1472 119 119 119 963 -11.8 0 8 dbSNP_107 119 386,8214 125.1+/-183.8 10,366,3924 no coding-synonymous PRDM14 NM_024504.2 81,1026,5396 TT,TC,CC 4.4884,18.2025,9.1342 321/572 70978690 1188,11818 2203 4300 6503 SO:0001819 synonymous_variant AF319458 CCDS6206.1 8q13.3 2013-01-08 ENSG00000147596 ENSG00000147596 63978 Zinc fingers, C2H2-type 14001 protein-coding gene gene with protein product 611781 NA Standard NM_024504 NA Approved uc003xym.3 Q9GZV8 OTTHUMG00000150495 ENST00000276594.2:c.963G>A chr8.hg19:g.70978690C>T NA Q86UX9 hg19 CCDS6206.1 0.02 4.549069 CCCxGTA COVERED NOVEL PRDM14-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000318505.1 1 6.018726 KEEP 0 0 0 20 671 CC 0.999863 0.999863 0 - 7 60 270 0 0 18.278863 133 60 4544 190 ENST00000276594.2 0.05 1 NCOA2 10499 __UNKNOWN__ __UNKNOWN__ 8 71022299 71022299 __UNKNOWN__ 3'UTR SNP T T C rs566824972 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:71022299T>C ENST00000452400.2 - 0 8144 NM_006540.2 NP_006531.1 Q15596 NCOA2_HUMAN nuclear receptor coactivator 2 NA NA cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleoplasm (GO:0005654) chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713) PAX3/NCOA2(4)|HEY1/NCOA2(10) NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4) 60 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) TGAAGAACCATAGTTAATATA 0.328 NA T RUNXBP2, HEY1 AML, Chondrosarcoma T||| 1 0.000199681 0.0 0.0 5008 , , NA 16610 0.0 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA Dom yes 8 8q13.1 10499 nuclear receptor coactivator 2 (TIF2) L 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X97674 CCDS47872.1 8q13.3 2011-07-01 ENSG00000140396 ENSG00000140396 10499 Chromatin-modifying enzymes / K-acetyltransferases, Basic helix-loop-helix proteins 7669 protein-coding gene gene with protein product 601993 NA 9111344, 8670870 Standard XM_005251128 NA Approved TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75 uc003xyn.1 Q15596 OTTHUMG00000164671 ENST00000452400.2:c.*3568A>G chr8.hg19:g.71022299T>C NA Q14CD2 hg19 CCDS47872.1 0.02 8.679666 CCAxAGT COVERED NOVEL NCOA2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000379696.1 0 12.035973 KEEP 0 0 0 40 1255 TT 1 1 0 - 10 60 375 0 0 24.98909 192 60 6903 282 ENST00000452400.2 0.049505 1 NCOA2 10499 __UNKNOWN__ __UNKNOWN__ 8 71024916 71024916 __UNKNOWN__ 3'UTR SNP A A T rs3088092 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:71024916A>T ENST00000452400.2 - 0 5527 NM_006540.2 NP_006531.1 Q15596 NCOA2_HUMAN nuclear receptor coactivator 2 NA NA cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleoplasm (GO:0005654) chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713) PAX3/NCOA2(4)|HEY1/NCOA2(10) NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4) 60 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) AGCAATTGGTAAGTGGCTGGC 0.348 NA T RUNXBP2, HEY1 AML, Chondrosarcoma A||| 506 0.101038 0.0726 0.1643 5008 , , NA 17998 0.1359 NA 0.0825 False NA ,,, NA NA NA 2504 0.0777 NA NA NA Dom yes 8 8q13.1 10499 nuclear receptor coactivator 2 (TIF2) L 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X97674 CCDS47872.1 8q13.3 2011-07-01 ENSG00000140396 ENSG00000140396 10499 Chromatin-modifying enzymes / K-acetyltransferases, Basic helix-loop-helix proteins 7669 protein-coding gene gene with protein product 601993 NA 9111344, 8670870 Standard XM_005251128 NA Approved TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75 uc003xyn.1 Q15596 OTTHUMG00000164671 ENST00000452400.2:c.*951T>A chr8.hg19:g.71024916A>T NA Q14CD2 hg19 CCDS47872.1 0.02 3.957654 GGTxAGT COVERED NOVEL NCOA2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000379696.1 0 10.814722 KEEP 0 0 0 36 1037 AA 0.999999 0.999999 0 - 8 60 286 0 0 19.133314 131 60 4581 209 ENST00000452400.2 0.057554 1 NCOA2 10499 __UNKNOWN__ __UNKNOWN__ 8 71025282 71025282 __UNKNOWN__ 3'UTR SNP T T C rs1046013 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:71025282T>C ENST00000452400.2 - 0 5161 NM_006540.2 NP_006531.1 Q15596 NCOA2_HUMAN nuclear receptor coactivator 2 NA NA cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleoplasm (GO:0005654) chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713) PAX3/NCOA2(4)|HEY1/NCOA2(10) NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4) 60 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) GAGATACGACTGTGACTTTGT 0.448 NA T RUNXBP2, HEY1 AML, Chondrosarcoma T||| 413 0.0824681 0.0378 0.0663 5008 , , NA 15620 0.1687 NA 0.0557 False NA ,,, NA NA NA 2504 0.093 NA NA NA Dom yes 8 8q13.1 10499 nuclear receptor coactivator 2 (TIF2) L 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X97674 CCDS47872.1 8q13.3 2011-07-01 ENSG00000140396 ENSG00000140396 10499 Chromatin-modifying enzymes / K-acetyltransferases, Basic helix-loop-helix proteins 7669 protein-coding gene gene with protein product 601993 NA 9111344, 8670870 Standard XM_005251128 NA Approved TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75 uc003xyn.1 Q15596 OTTHUMG00000164671 ENST00000452400.2:c.*585A>G chr8.hg19:g.71025282T>C NA Q14CD2 hg19 CCDS47872.1 0.02 4.168393 GACxGTG COVERED NOVEL NCOA2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000379696.1 2 19.248615 KEEP 0 0 0 64 1994 TT 1 1 0 - 5 60 178 0 0 10.686764 144 60 5393 268 ENST00000452400.2 0.033557 1 NCOA2 10499 __UNKNOWN__ __UNKNOWN__ 8 71050372 71050372 __UNKNOWN__ Intron SNP C C A rs3812430 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:71050372C>A ENST00000452400.2 - 15 3340 NCOA2_ENST00000267974.4_Intron NM_006540.2 NP_006531.1 Q15596 NCOA2_HUMAN nuclear receptor coactivator 2 NA NA cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleoplasm (GO:0005654) chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713) PAX3/NCOA2(4)|HEY1/NCOA2(10) NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4) 60 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) CCGACTACTCCAAAGGAAAAG 0.438 NA T RUNXBP2, HEY1 AML, Chondrosarcoma A||| 1887 0.376797 0.5877 0.1888 5008 , , NA 18327 0.5079 NA 0.1382 False NA ,,, NA NA NA 2504 0.3354 NA NA NA Dom yes 8 8q13.1 10499 nuclear receptor coactivator 2 (TIF2) L 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X97674 CCDS47872.1 8q13.3 2011-07-01 ENSG00000140396 ENSG00000140396 10499 Chromatin-modifying enzymes / K-acetyltransferases, Basic helix-loop-helix proteins 7669 protein-coding gene gene with protein product 601993 NA 9111344, 8670870 Standard XM_005251128 NA Approved TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75 uc003xyn.1 Q15596 OTTHUMG00000164671 ENST00000452400.2:c.3158+65G>T chr8.hg19:g.71050372C>A NA Q14CD2 hg19 CCDS47872.1 0.02 1.942045 CTCxAAA COVERED NOVEL NCOA2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000379696.1 1 2.708705 KEEP 0 0 0 9 309 CC 0.99254 0.992165 0 - 4 60 148 0 0 9.705683 81 60 2989 113 ENST00000452400.2 0.047059 0.999622 NCOA2 10499 __UNKNOWN__ __UNKNOWN__ 8 71068183 71068183 __UNKNOWN__ Intron SNP C C T rs11786991 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:71068183C>T ENST00000452400.2 - 11 2576 NM_006540.2 NP_006531.1 Q15596 NCOA2_HUMAN nuclear receptor coactivator 2 NA NA cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleoplasm (GO:0005654) chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713) PAX3/NCOA2(4)|HEY1/NCOA2(10) NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4) 60 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) AGTACACCTGCGAGAAGATGT 0.393 NA T RUNXBP2, HEY1 AML, Chondrosarcoma C||| 481 0.0960463 0.053 0.1657 5008 , , NA 19500 0.129 NA 0.0905 False NA ,,, NA NA NA 2504 0.0767 NA NA NA Dom yes 8 8q13.1 10499 nuclear receptor coactivator 2 (TIF2) L 0 C 207,3511 10,187,1662 35 34 34 -0.6 0 8 dbSNP_120 34 657,7553 35,587,3483 no intron NCOA2 NM_006540.2 45,774,5145 TT,TC,CC 8.0024,5.5675,7.2435 71068183 864,11064 1859 4105 5964 SO:0001627 intron_variant X97674 CCDS47872.1 8q13.3 2011-07-01 ENSG00000140396 ENSG00000140396 10499 Chromatin-modifying enzymes / K-acetyltransferases, Basic helix-loop-helix proteins 7669 protein-coding gene gene with protein product 601993 NA 9111344, 8670870 Standard XM_005251128 NA Approved TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75 uc003xyn.1 Q15596 OTTHUMG00000164671 ENST00000452400.2:c.2394+22G>A chr8.hg19:g.71068183C>T NA Q14CD2 hg19 CCDS47872.1 0.02 5.673713 CTGxGAG COVERED NOVEL NCOA2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000379696.1 1 7.188543 KEEP 0 0 0 24 802 CC 0.999909 0.999909 0 - 8 60 288 0 0 18.165894 185 60 6713 236 ENST00000452400.2 0.041451 1 TRAM1 23471 __UNKNOWN__ __UNKNOWN__ 8 71512377 71512377 __UNKNOWN__ Intron SNP C C T rs268593 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:71512377C>T ENST00000262213.2 - 2 293 TRAM1_ENST00000536748.1_Intron|TRAM1_ENST00000521425.1_Intron|TRAM1_ENST00000521049.1_Intron NM_014294.5 NP_055109.1 Q15629 TRAM1_HUMAN translocation associated membrane protein 1 NA NA cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|viral process (GO:0016032) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) receptor activity (GO:0004872) endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1) 17 Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509) AATAACAGATCGGGGCAAAAA 0.398 NA C||| 1999 0.399161 0.2428 0.2421 5008 , , NA 17999 0.6022 NA 0.335 False NA ,,, NA NA NA 2504 0.5787 NA NA NA Ovarian(85;984 1334 5116 12432 40638) NA 0 C 390,994 63,264,365 68 53 58 -0.3 0 8 dbSNP_79 58 1082,2100 180,722,689 no intron TRAM1 NM_014294.5 243,986,1054 TT,TC,CC 34.0038,28.1792,32.2383 71512377 1472,3094 692 1591 2283 SO:0001627 intron_variant X63679 CCDS6207.1 8q13.1 2004-01-22 ENSG00000067167 ENSG00000067167 23471 20568 protein-coding gene gene with protein product 605190 NA 1315422 Standard NM_014294 NM_014294 NA Approved TRAM, TRAMP uc003xyo.2 Q15629 OTTHUMG00000164428 ENST00000262213.2:c.124-60G>A chr8.hg19:g.71512377C>T NA B4E0K2 hg19 CCDS6207.1 0.02 9.379576 GATxGGG COVERED NOVEL TRAM1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000378738.1 2 11.764841 KEEP 0 1 34 51 1692 CC 1 1 0 - 17 60 639 0 0 45.484962 219 60 7901 354 ENST00000262213.2 0.072034 1 RP11-382J12.1 0 __UNKNOWN__ __UNKNOWN__ 8 71550708 71550708 __UNKNOWN__ Intron SNP C C T rs49195 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:71550708C>T ENST00000499227.2 + 2 257 RP11-382J12.1_ENST00000518553.1_Intron|LACTB2_ENST00000522447.1_Intron|LACTB2_ENST00000276590.4_Intron NA NA NA TATTATTTTTCCTCAAAGGAA 0.378 NA C||| 1991 0.397564 0.2443 0.2392 5008 , , NA 15399 0.6012 NA 0.332 False NA ,,, NA NA NA 2504 0.5746 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000499227.2:c.-741-13340C>T chr8.hg19:g.71550708C>T NA hg19 0.02 2.161366 TTTxCTC COVERED NOVEL RP11-382J12.1-001 PUTATIVE basic|appris_principal|exp_conf protein_coding NA protein_coding OTTHUMT00000378742.2 0 3.009381 KEEP 0 0 0 10 336 CC 0.992708 0.980739 0 + 5 60 182 0 0 13.112887 55 60 2050 86 ENST00000499227.2 0.083333 0.987943 XKR9 389668 __UNKNOWN__ __UNKNOWN__ 8 71646841 71646841 __UNKNOWN__ 3'UTR SNP A A T rs143177895 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:71646841A>T ENST00000408926.3 + 0 1838 XKR9_ENST00000520273.1_Intron NM_001011720.1 NP_001011720.1 Q5GH70 XKR9_HUMAN XK, Kell blood group complex subunit-related family, member 9 NA NA integral component of membrane (GO:0016021) breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 19 Breast(64;0.0716) Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166) GGTTTTGAAGATCTTGAGTAC 0.318 NA A||| 10 0.00199681 0.0 0.0 5008 , , NA 16235 0.0099 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY534247 CCDS34905.1 8q13.3 2006-01-12 2006-01-12 ENSG00000221947 389668 20937 protein-coding gene gene with protein product X Kell blood group precursor-related family, member 9 NA Standard NM_001011720 NM_001287258 NA Approved uc003xyq.3 Q5GH70 ENST00000408926.3:c.*182A>T chr8.hg19:g.71646841A>T NA B2RNS9|B9EH74 hg19 CCDS34905.1 0.02 6.04782 AAGxTCT COVERED NOVEL XKR9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000378752.1 2 6.31952 KEEP 0 0 0 21 680 AA 0.999869 0.999869 0 + 10 60 348 0 0 22.986989 163 60 5811 226 ENST00000408926.3 0.057803 1 RP11-1102P16.1 0 __UNKNOWN__ __UNKNOWN__ 8 72316836 72316836 __UNKNOWN__ 3'UTR SNP C C T rs11782216 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:72316836C>T ENST00000523987.1 - 0 635 NA NA NA GTACAGGAAGCGATAATCAAA 0.428 NA C||| 832 0.166134 0.0053 0.2133 5008 , , NA 16071 0.3581 NA 0.1372 False NA ,,, NA NA NA 2504 0.182 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant NA NA NA NA ENST00000523987.1:c.*204G>A chr8.hg19:g.72316836C>T NA hg19 0.02 6.146623 AAGxGAT COVERED NOVEL RP11-1102P16.1-001 PUTATIVE basic|appris_principal protein_coding NA protein_coding OTTHUMT00000378846.1 3 6.62143 KEEP 0 0 0 22 766 CC 0.999879 0.999879 0 - 10 60 356 0 0 23.784592 163 60 5467 218 ENST00000523987.1 0.057803 1 RP11-383H13.1 0 __UNKNOWN__ __UNKNOWN__ 8 72747539 72747539 __UNKNOWN__ Intron SNP G G A rs34283676 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:72747539G>A ENST00000521467.1 + 1 49 NA NA lung(1) 1 gagtggtgccggcatctgctt 0.483 NA G||| 712 0.142173 0.3064 0.121 5008 , , NA 20512 0.1091 NA 0.0726 False NA ,,, NA NA NA 2504 0.0409 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000521467.1:c.-91+7089G>A chr8.hg19:g.72747539G>A NA hg19 0.02 -0.315825 GCCxGCA COVERED NOVEL RP11-383H13.1-006 PUTATIVE basic|appris_candidate protein_coding NA protein_coding OTTHUMT00000379051.1 0 9.619243 KEEP 0 0 0 32 1106 GG 0.999997 0.818463 0 + 3 60 113 0 0 8.24759 33 60 1172 102 ENST00000521467.1 0.083333 0.818465 MSC 9242 __UNKNOWN__ __UNKNOWN__ 8 72753899 72753899 __UNKNOWN__ 3'UTR SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:72753899G>A ENST00000325509.4 - 0 1907 RP11-383H13.1_ENST00000521467.1_Intron NM_005098.3 NP_005089.2 O60682 MUSC_HUMAN musculin NA NA branchiomeric skeletal muscle development (GO:0014707)|diaphragm development (GO:0060539)|palate development (GO:0060021)|transcription from RNA polymerase II promoter (GO:0006366) nucleus (GO:0005634) RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714) endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2) 26 Breast(64;0.176) Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203) GTTCCCTATCGCAGGATCACT 0.537 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS43746.1 8q13.3 2013-06-07 2010-04-28 ENSG00000178860 ENSG00000178860 9242 Basic helix-loop-helix proteins 7321 protein-coding gene gene with protein product activated B-cell factor-1 603628 musculin (activated B-cell factor-1) NA 9584154, 10198176 Standard NM_005098 NM_005098 NA Approved ABF-1, bHLHa22 uc003xyx.1 O60682 OTTHUMG00000164489 ENST00000325509.4:c.*997C>T chr8.hg19:g.72753899G>A NA O75946|Q53XZ2|Q9BRE7 hg19 CCDS43746.1 0.02 7.638106 ATCxCAG COVERED NOVEL MSC-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000378974.1 6 62.854664 KEEP 0 0 0 209 7142 GG 1 1 0 - 8 60 257 0 0 14.504489 222 60 7606 602 ENST00000325509.4 0.034783 1 MSC 9242 __UNKNOWN__ __UNKNOWN__ 8 72754342 72754342 __UNKNOWN__ 3'UTR SNP G G T rs900126 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:72754342G>T ENST00000325509.4 - 0 1464 RP11-383H13.1_ENST00000521467.1_Intron NM_005098.3 NP_005089.2 O60682 MUSC_HUMAN musculin NA NA branchiomeric skeletal muscle development (GO:0014707)|diaphragm development (GO:0060539)|palate development (GO:0060021)|transcription from RNA polymerase II promoter (GO:0006366) nucleus (GO:0005634) RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714) endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2) 26 Breast(64;0.176) Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203) TTAGAAGGGCGCTGTGCTGGA 0.612 NA G||| 1342 0.267971 0.4546 0.1844 5008 , , NA 15604 0.2381 NA 0.1918 False NA ,,, NA NA NA 2504 0.184 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS43746.1 8q13.3 2013-06-07 2010-04-28 ENSG00000178860 ENSG00000178860 9242 Basic helix-loop-helix proteins 7321 protein-coding gene gene with protein product activated B-cell factor-1 603628 musculin (activated B-cell factor-1) NA 9584154, 10198176 Standard NM_005098 NM_005098 NA Approved ABF-1, bHLHa22 uc003xyx.1 O60682 OTTHUMG00000164489 ENST00000325509.4:c.*554C>A chr8.hg19:g.72754342G>T NA O75946|Q53XZ2|Q9BRE7 hg19 CCDS43746.1 0.02 15.276784 GGCxCTG COVERED NOVEL MSC-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000378974.1 4 52.063128 KEEP 0 0 0 173 5873 GG 1 1 0 - 14 60 522 0 0 33.224697 344 60 11630 638 ENST00000325509.4 0.039106 1 MSC 9242 __UNKNOWN__ __UNKNOWN__ 8 72754606 72754606 __UNKNOWN__ 3'UTR SNP C C G rs3779759 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:72754606C>G ENST00000325509.4 - 0 1200 RP11-383H13.1_ENST00000521467.1_Intron|MSC_ENST00000518440.1_5'UTR NM_005098.3 NP_005089.2 O60682 MUSC_HUMAN musculin NA NA branchiomeric skeletal muscle development (GO:0014707)|diaphragm development (GO:0060539)|palate development (GO:0060021)|transcription from RNA polymerase II promoter (GO:0006366) nucleus (GO:0005634) RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714) endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2) 26 Breast(64;0.176) Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203) GAGAGTTAGTCTACAGAGCTA 0.637 NA C||| 408 0.0814696 0.0371 0.0231 5008 , , NA 17666 0.1835 NA 0.0497 False NA ,,, NA NA NA 2504 0.1104 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS43746.1 8q13.3 2013-06-07 2010-04-28 ENSG00000178860 ENSG00000178860 9242 Basic helix-loop-helix proteins 7321 protein-coding gene gene with protein product activated B-cell factor-1 603628 musculin (activated B-cell factor-1) NA 9584154, 10198176 Standard NM_005098 NM_005098 NA Approved ABF-1, bHLHa22 uc003xyx.1 O60682 OTTHUMG00000164489 ENST00000325509.4:c.*290G>C chr8.hg19:g.72754606C>G NA O75946|Q53XZ2|Q9BRE7 hg19 CCDS43746.1 0.02 15.445797 AGTxTAC COVERED NOVEL MSC-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000378974.1 6 59.586654 KEEP 0 0 0 198 6932 CC 1 1 0 - 13 60 471 0 0 28.698052 370 60 13920 667 ENST00000325509.4 0.033943 1 MSC 9242 __UNKNOWN__ __UNKNOWN__ 8 72754748 72754748 __UNKNOWN__ 3'UTR SNP C C T rs3779761 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:72754748C>T ENST00000325509.4 - 0 1058 RP11-383H13.1_ENST00000521467.1_Intron|MSC_ENST00000518440.1_5'UTR NM_005098.3 NP_005089.2 O60682 MUSC_HUMAN musculin NA NA branchiomeric skeletal muscle development (GO:0014707)|diaphragm development (GO:0060539)|palate development (GO:0060021)|transcription from RNA polymerase II promoter (GO:0006366) nucleus (GO:0005634) RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714) endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2) 26 Breast(64;0.176) Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203) CACCCGCCACCTGTCACGATC 0.592 NA C||| 1436 0.286741 0.5325 0.1945 5008 , , NA 18819 0.2381 NA 0.1918 False NA ,,, NA NA NA 2504 0.1677 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS43746.1 8q13.3 2013-06-07 2010-04-28 ENSG00000178860 ENSG00000178860 9242 Basic helix-loop-helix proteins 7321 protein-coding gene gene with protein product activated B-cell factor-1 603628 musculin (activated B-cell factor-1) NA 9584154, 10198176 Standard NM_005098 NM_005098 NA Approved ABF-1, bHLHa22 uc003xyx.1 O60682 OTTHUMG00000164489 ENST00000325509.4:c.*148G>A chr8.hg19:g.72754748C>T NA O75946|Q53XZ2|Q9BRE7 hg19 CCDS43746.1 0.02 6.817039 CACxTGT COVERED NOVEL MSC-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000378974.1 4 28.292213 KEEP 0 0 0 94 3372 CC 1 1 0 - 13 60 479 0 0 33.307595 184 60 6924 350 ENST00000325509.4 0.06599 1 TRPA1 8989 __UNKNOWN__ __UNKNOWN__ 8 72935008 72935008 __UNKNOWN__ 3'UTR SNP C C T rs10085956 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:72935008C>T ENST00000262209.4 - 0 3700 RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron NM_007332.2 NP_015628.2 O75762 TRPA1_HUMAN transient receptor potential cation channel, subfamily A, member 1 NA NA calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421) calcium channel activity (GO:0005262)|channel activity (GO:0015267) NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1) 98 Epithelial(68;0.223) Menthol(DB00825) TACTTTTATACAGCATGCAGG 0.363 NA T||| 2572 0.513578 0.4871 0.3862 5008 , , NA 20400 0.7589 NA 0.492 False NA ,,, NA NA NA 2504 0.409 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Y10601 CCDS34908.1 8q13 2013-01-10 2003-11-20 2003-11-20 ENSG00000104321 ENSG00000104321 8989 Voltage-gated ion channels / Transient receptor potential cation channels, Ankyrin repeat domain containing 497 protein-coding gene gene with protein product 604775 ankyrin-like with transmembrane domains 1 ANKTM1 NA 16382100 Standard NM_007332 NM_007332 NA Approved uc003xza.3 O75762 OTTHUMG00000164516 ENST00000262209.4:c.*133G>A chr8.hg19:g.72935008C>T NA A6NIN6 hg19 CCDS34908.1 0.02 8.736664 ATAxAGC COVERED NOVEL TRPA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000379079.2 4 4.815415 KEEP 0 0 0 16 541 CC 0.997832 0.997832 0 - 13 60 465 0 0 30.963835 219 70 8097 262 ENST00000262209.4 0.056034 1 TRPA1 8989 __UNKNOWN__ __UNKNOWN__ 8 72935039 72935039 __UNKNOWN__ 3'UTR SNP C C T rs10085964 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:72935039C>T ENST00000262209.4 - 0 3669 RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron NM_007332.2 NP_015628.2 O75762 TRPA1_HUMAN transient receptor potential cation channel, subfamily A, member 1 NA NA calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421) calcium channel activity (GO:0005262)|channel activity (GO:0015267) NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1) 98 Epithelial(68;0.223) Menthol(DB00825) TCACACGCAGCAAAATGAATC 0.383 NA T||| 2572 0.513578 0.4871 0.3862 5008 , , NA 20199 0.7589 NA 0.492 False NA ,,, NA NA NA 2504 0.409 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Y10601 CCDS34908.1 8q13 2013-01-10 2003-11-20 2003-11-20 ENSG00000104321 ENSG00000104321 8989 Voltage-gated ion channels / Transient receptor potential cation channels, Ankyrin repeat domain containing 497 protein-coding gene gene with protein product 604775 ankyrin-like with transmembrane domains 1 ANKTM1 NA 16382100 Standard NM_007332 NM_007332 NA Approved uc003xza.3 O75762 OTTHUMG00000164516 ENST00000262209.4:c.*102G>A chr8.hg19:g.72935039C>T NA A6NIN6 hg19 CCDS34908.1 0.02 10.480629 CAGxAAA COVERED NOVEL TRPA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000379079.2 6 7.524596 KEEP 0 0 0 25 885 CC 0.999931 0.999931 0 - 16 60 541 1 0 35.054537 267 70 9769 351 ENST00000262209.4 0.056537 1 TRPA1 8989 __UNKNOWN__ __UNKNOWN__ 8 72964965 72964965 __UNKNOWN__ Silent SNP G G A rs61758119 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:72964965G>A ENST00000262209.4 - 14 1887 c.1680C>T c.(1678-1680)caC>caT p.H560H RP11-383H13.1_ENST00000537896.1_3'UTR|RP11-383H13.1_ENST00000457356.4_3'UTR NM_007332.2 NP_015628.2 O75762 TRPA1_HUMAN transient receptor potential cation channel, subfamily A, member 1 560 NA calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421) calcium channel activity (GO:0005262)|channel activity (GO:0015267) NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1) 98 Epithelial(68;0.223) Menthol(DB00825) CGGCTTTGGCGTGGCCTTCCC 0.468 NA G||| 272 0.0543131 0.0635 0.0202 5008 , , NA 16249 0.0734 NA 0.001 False NA ,,, NA NA NA 2504 0.1012 NA NA NA NA 0 G 197,4209 122.5+/-159.9 5,187,2011 142 120 127 1680 -8.1 0.9 8 dbSNP_129 127 1,8599 1.2+/-3.3 0,1,4299 no coding-synonymous TRPA1 NM_007332.2 5,188,6310 AA,AG,GG 0.0116,4.4712,1.5224 560/1120 72964965 198,12808 2203 4300 6503 SO:0001819 synonymous_variant Y10601 CCDS34908.1 8q13 2013-01-10 2003-11-20 2003-11-20 ENSG00000104321 ENSG00000104321 8989 Voltage-gated ion channels / Transient receptor potential cation channels, Ankyrin repeat domain containing 497 protein-coding gene gene with protein product 604775 ankyrin-like with transmembrane domains 1 ANKTM1 NA 16382100 Standard NM_007332 NM_007332 NA Approved uc003xza.3 O75762 OTTHUMG00000164516 ENST00000262209.4:c.1680C>T chr8.hg19:g.72964965G>A NA A6NIN6 hg19 CCDS34908.1 0.02 8.792683 GGCxTGG COVERED NOVEL TRPA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000379079.2 2 12.039276 KEEP 0 0 0 40 1411 GG 1 1 0 - 8 60 303 0 0 18.803403 238 60 8656 353 ENST00000262209.4 0.03252 1 TRPA1 8989 __UNKNOWN__ __UNKNOWN__ 8 72977908 72977908 __UNKNOWN__ Intron SNP T T C rs77069891 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:72977908T>C ENST00000262209.4 - 4 652 NM_007332.2 NP_015628.2 O75762 TRPA1_HUMAN transient receptor potential cation channel, subfamily A, member 1 NA NA calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421) calcium channel activity (GO:0005262)|channel activity (GO:0015267) NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1) 98 Epithelial(68;0.223) Menthol(DB00825) ttatcttttattcatccttct 0.338 NA T||| 187 0.0373403 0.0 0.0101 5008 , , NA 16150 0.0744 NA 0.0 False NA ,,, NA NA NA 2504 0.1074 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Y10601 CCDS34908.1 8q13 2013-01-10 2003-11-20 2003-11-20 ENSG00000104321 ENSG00000104321 8989 Voltage-gated ion channels / Transient receptor potential cation channels, Ankyrin repeat domain containing 497 protein-coding gene gene with protein product 604775 ankyrin-like with transmembrane domains 1 ANKTM1 NA 16382100 Standard NM_007332 NM_007332 NA Approved uc003xza.3 O75762 OTTHUMG00000164516 ENST00000262209.4:c.445-115A>G chr8.hg19:g.72977908T>C NA A6NIN6 hg19 CCDS34908.1 0.02 5.270891 TTAxTCA COVERED NOVEL TRPA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000379079.2 0 3.009321 KEEP 0 0 0 10 326 TT 0.992708 0.992685 0 - 10 60 398 0 0 30.319379 93 60 3359 127 ENST00000262209.4 0.097087 0.999978 TRPA1 8989 __UNKNOWN__ __UNKNOWN__ 8 72987843 72987843 __UNKNOWN__ 5'UTR SNP C C T rs73687869 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:72987843C>T ENST00000262209.4 - 0 9 NM_007332.2 NP_015628.2 O75762 TRPA1_HUMAN transient receptor potential cation channel, subfamily A, member 1 NA NA calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421) calcium channel activity (GO:0005262)|channel activity (GO:0015267) NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1) 98 Epithelial(68;0.223) Menthol(DB00825) GCCCGCGCTACTTTTGTAGTG 0.657 NA C||| 274 0.0547125 0.0658 0.0202 5008 , , NA 13153 0.0744 NA 0.0 False NA ,,, NA NA NA 2504 0.1002 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant Y10601 CCDS34908.1 8q13 2013-01-10 2003-11-20 2003-11-20 ENSG00000104321 ENSG00000104321 8989 Voltage-gated ion channels / Transient receptor potential cation channels, Ankyrin repeat domain containing 497 protein-coding gene gene with protein product 604775 ankyrin-like with transmembrane domains 1 ANKTM1 NA 16382100 Standard NM_007332 NM_007332 NA Approved uc003xza.3 O75762 OTTHUMG00000164516 ENST00000262209.4:c.-199G>A chr8.hg19:g.72987843C>T NA A6NIN6 hg19 CCDS34908.1 0.02 -0.377216 CTAxTTT COVERED NOVEL TRPA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000379079.2 0 2.708496 KEEP 0 0 0 9 315 CC 0.99254 0.902287 0 - 3 60 112 0 0 7.938809 39 60 1461 60 ENST00000262209.4 0.071429 0.909069 SBSPON 157869 __UNKNOWN__ __UNKNOWN__ 8 74005131 74005131 __UNKNOWN__ Missense_Mutation SNP A A G rs59331088 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:74005131A>G ENST00000297354.6 - 1 376 c.172T>C c.(172-174)Ttc>Ctc p.F58L SBSPON_ENST00000519697.1_Intron NM_153225.3 NP_694957.3 Q8IVN8 SBSPO_HUMAN somatomedin B and thrombospondin, type 1 domain containing 58 SMB. {ECO:0000255|PROSITE- ProRule:PRU00350}. NA F -> L (in dbSNP:rs59331088). {ECO:0000269|PubMed:12107410}. immune response (GO:0006955) proteinaceous extracellular matrix (GO:0005578) polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044) NA TCCCCGGTGAAGCGACAGGCT 0.711 NA G||| 1839 0.367212 0.649 0.2738 5008 , , NA 9492 0.2966 NA 0.2873 False NA ,,, NA NA NA 2504 0.2076 NA NA NA NA 0 G LEU/PHE 2242,1716 657,928,394 26 38 34 172 3.2 1 8 dbSNP_129 34 2237,6025 307,1623,2201 yes missense C8orf84 NM_153225.3 22 964,2551,2595 GG,GA,AA 27.0758,43.3552,36.653 benign 58/265 74005131 4479,7741 1979 4131 6110 SO:0001583 missense CCDS43747.2 8q21.11 2013-08-07 2012-05-15 2012-05-15 ENSG00000164764 ENSG00000164764 157869 30362 protein-coding gene gene with protein product RPE spondin, rpe-spondin chromosome 8 open reading frame 84 C8orf84 NA 12107410 Standard NM_153225 NM_153225 NA Approved RPESP uc003xzf.3 Q8IVN8 OTTHUMG00000157144 ENST00000297354.6:c.172T>C chr8.hg19:g.74005131A>G ENSP00000297354:p.Phe58Leu NA A8KAA5|Q96J64 hg19 CCDS43747.2 0.02 6.293427 TGAxGCG COVERED 800 0.3663003663003663 324 0.6585365853658537 111 0.30662983425414364 163 0.28496503496503495 202 0.26649076517150394 G 10.70 1.423153 0.25639 0.566448 0.270758 ENSG00000164764 ENST00000297354 T 0.20738 2.05 5.15 3.25 0.37280 Somatomedin B domain (2); 0.526255 0.19119 N 0.122227 T 0.00012 0.0000 N 0.00707 -1.245 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.35351 -0.9792 9 0.07990 T 0.79 -14.5554 7.5784 0.27950 0.1573:0.1376:0.7051:0.0 rs59331088;rs62510382 58 Q8IVN8 RPESP_HUMAN L 58 ENSP00000297354:F58L ENSP00000297354:F58L F - 1 0 C8orf84 74167685 0.163000 0.22920 0.998000 0.56505 0.992000 0.81027 0.807000 0.27140 1.175000 0.42826 -0.220000 0.12472 TTC NOVEL SBSPON-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347584.2 2 24.374495 KEEP 0 0 0 81 2577 AA 1 1 0 - 7 60 251 0 0 15.613502 172 60 6205 347 ENST00000297354.6 0.039106 1 STAU2 27067 __UNKNOWN__ __UNKNOWN__ 8 74462234 74462234 __UNKNOWN__ Intron SNP C C T rs73328708 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:74462234C>T ENST00000524300.1 - 13 1881 STAU2_ENST00000521210.1_Intron|STAU2_ENST00000519961.1_3'UTR|STAU2_ENST00000521727.1_3'UTR|STAU2_ENST00000355780.5_3'UTR|STAU2_ENST00000523558.1_Intron|STAU2_ENST00000522695.1_Intron NM_001164380.1|NM_001164381.1 NP_001157852.1|NP_001157853.1 Q9NUL3 STAU2_HUMAN staufen double-stranded RNA binding protein 2 NA NA transport (GO:0006810) endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634) double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822) breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1) 19 Breast(64;0.0138) Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972) CACAAAGAACCTTCTGCTGCG 0.398 NA C||| 910 0.181709 0.0507 0.0922 5008 , , NA 16890 0.4236 NA 0.0954 False NA ,,, NA NA NA 2504 0.2618 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Y19062 CCDS6214.1, CCDS55244.1, CCDS55245.1, CCDS55246.1, CCDS55247.1, CCDS55248.1 8q21.11 2013-06-05 2013-06-05 ENSG00000040341 ENSG00000040341 27067 11371 protein-coding gene gene with protein product 605920 staufen (Drosophila, RNA-binding protein) homolog 2, staufen, RNA binding protein, homolog 2 (Drosophila) NA 10585778 Standard NM_001164380 NM_014393 NA Approved 39K2 uc003xzm.3 Q9NUL3 OTTHUMG00000164499 ENST00000524300.1:c.1530+2012G>A chr8.hg19:g.74462234C>T NA B7Z1I6|B7Z292|B7Z8B4|E7ER74|E9PEI3|E9PF26|E9PF50|Q6AHY7|Q96HM0|Q96HM1|Q9NVI5|Q9UGG6 hg19 CCDS55247.1 0.02 1.828383 AACxTTC COVERED NOVEL STAU2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000379000.2 1 3.912771 KEEP 0 0 0 13 463 CC 0.994391 0.994339 0 - 6 60 217 0 0 14.764934 92 60 3353 124 ENST00000524300.1 0.061224 0.999948 STAU2 27067 __UNKNOWN__ __UNKNOWN__ 8 74463797 74463797 __UNKNOWN__ 3'UTR SNP T T C rs10112019 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:74463797T>C ENST00000521451.1 - 0 1696 STAU2_ENST00000521210.1_Intron|STAU2_ENST00000519961.1_3'UTR|STAU2_ENST00000521727.1_3'UTR|STAU2_ENST00000355780.5_3'UTR|STAU2_ENST00000524300.1_Intron|STAU2_ENST00000523558.1_Intron|STAU2_ENST00000522695.1_Intron Q9NUL3 STAU2_HUMAN staufen double-stranded RNA binding protein 2 NA NA transport (GO:0006810) endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634) double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822) breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1) 19 Breast(64;0.0138) Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972) ATACTAGCAATAGAATGCAAA 0.284 NA C||| 2864 0.571885 0.5219 0.6945 5008 , , NA 20065 0.4653 NA 0.7744 False NA ,,, NA NA NA 2504 0.454 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Y19062 CCDS6214.1, CCDS55244.1, CCDS55245.1, CCDS55246.1, CCDS55247.1, CCDS55248.1 8q21.11 2013-06-05 2013-06-05 ENSG00000040341 ENSG00000040341 27067 11371 protein-coding gene gene with protein product 605920 staufen (Drosophila, RNA-binding protein) homolog 2, staufen, RNA binding protein, homolog 2 (Drosophila) NA 10585778 Standard NM_001164380 NM_014393 NA Approved 39K2 uc003xzm.3 Q9NUL3 OTTHUMG00000164499 ENST00000521451.1:c.*444A>G chr8.hg19:g.74463797T>C NA B7Z1I6|B7Z292|B7Z8B4|E7ER74|E9PEI3|E9PF26|E9PF50|Q6AHY7|Q96HM0|Q96HM1|Q9NVI5|Q9UGG6 hg19 0.02 27.75546 CAAxAGA COVERED NOVEL STAU2-006 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000379006.4 4 16.817869 KEEP 0 2 60 77 2398 TT 1 1 0 - 21 60 809 0 0 50.846116 616 60 22324 826 ENST00000521451.1 0.032967 1 STAU2 27067 __UNKNOWN__ __UNKNOWN__ 8 74525859 74525859 __UNKNOWN__ Intron SNP C C G rs73330848 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:74525859C>G ENST00000521451.1 - 4 608 STAU2_ENST00000521210.1_Intron|STAU2_ENST00000517542.1_Intron|STAU2_ENST00000519961.1_Intron|STAU2_ENST00000521727.1_Intron|STAU2_ENST00000522509.1_Intron|STAU2_ENST00000355780.5_Intron|STAU2_ENST00000524300.1_Intron|STAU2_ENST00000523558.1_Intron|STAU2_ENST00000522695.1_Intron Q9NUL3 STAU2_HUMAN staufen double-stranded RNA binding protein 2 NA NA transport (GO:0006810) endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634) double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822) breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1) 19 Breast(64;0.0138) Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972) GTCCTGCCCTCATTTCAGGAC 0.313 NA G||| 1445 0.288538 0.3298 0.2738 5008 , , NA 18497 0.3522 NA 0.1928 False NA ,,, NA NA NA 2504 0.2761 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Y19062 CCDS6214.1, CCDS55244.1, CCDS55245.1, CCDS55246.1, CCDS55247.1, CCDS55248.1 8q21.11 2013-06-05 2013-06-05 ENSG00000040341 ENSG00000040341 27067 11371 protein-coding gene gene with protein product 605920 staufen (Drosophila, RNA-binding protein) homolog 2, staufen, RNA binding protein, homolog 2 (Drosophila) NA 10585778 Standard NM_001164380 NM_014393 NA Approved 39K2 uc003xzm.3 Q9NUL3 OTTHUMG00000164499 ENST00000521451.1:c.231+119G>C chr8.hg19:g.74525859C>G NA B7Z1I6|B7Z292|B7Z8B4|E7ER74|E9PEI3|E9PF26|E9PF50|Q6AHY7|Q96HM0|Q96HM1|Q9NVI5|Q9UGG6 hg19 0.02 2.188966 CCTxATT COVERED NOVEL STAU2-006 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000379006.4 1 5.416619 KEEP 0 0 0 18 595 CC 0.999859 0.999721 0 - 11 60 419 0 0 32.579613 80 60 3056 126 ENST00000521451.1 0.120879 0.999862 STAU2 27067 __UNKNOWN__ __UNKNOWN__ 8 74527996 74527996 __UNKNOWN__ De_novo_Start_InFrame SNP C C T rs949493 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:74527996C>T ENST00000521451.1 - 0 308 STAU2_ENST00000521210.1_Missense_Mutation_p.V94M|STAU2_ENST00000517542.1_Missense_Mutation_p.V160M|STAU2_ENST00000519961.1_Missense_Mutation_p.V198M|STAU2_ENST00000521727.1_Missense_Mutation_p.V178M|STAU2_ENST00000522509.1_Missense_Mutation_p.V166M|STAU2_ENST00000355780.5_Missense_Mutation_p.V166M|STAU2_ENST00000524300.1_Missense_Mutation_p.V198M|STAU2_ENST00000523558.1_Missense_Mutation_p.V26M|STAU2_ENST00000522695.1_Missense_Mutation_p.V166M Q9NUL3 STAU2_HUMAN staufen double-stranded RNA binding protein 2 NA NA transport (GO:0006810) endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634) double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822) breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1) 19 Breast(64;0.0138) Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972) TCATCATCCACATCCTTTCCT 0.353 NA T||| 4280 0.854633 0.7761 0.7867 5008 , , NA 18907 0.9692 NA 0.9175 False NA ,,, NA NA NA 2504 0.8262 NA NA NA NA 0 T MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL 3599,807 321.3+/-297.0 1461,677,65 159 140 147 592,496,280,76,496,478,496 1.9 1 8 dbSNP_86 147 7916,684 170.4+/-221.6 3641,634,25 yes missense,missense,missense,missense,missense,missense,missense STAU2 NM_001164380.1,NM_001164381.1,NM_001164382.1,NM_001164383.1,NM_001164384.1,NM_001164385.1,NM_014393.2 21,21,21,21,21,21,21 5102,1311,90 TT,TC,CC 7.9535,18.3159,11.4639 benign,benign,benign,benign,benign,benign,benign 198/571,166/539,94/505,26/399,166/480,160/474,166/480 74527996 11515,1491 2203 4300 6503 Y19062 CCDS6214.1, CCDS55244.1, CCDS55245.1, CCDS55246.1, CCDS55247.1, CCDS55248.1 8q21.11 2013-06-05 2013-06-05 ENSG00000040341 ENSG00000040341 27067 11371 protein-coding gene gene with protein product 605920 staufen (Drosophila, RNA-binding protein) homolog 2, staufen, RNA binding protein, homolog 2 (Drosophila) NA 10585778 Standard NM_001164380 NM_014393 NA Approved 39K2 uc003xzm.3 Q9NUL3 OTTHUMG00000164499 ENST00000521451.1: chr8.hg19:g.74527996C>T NA B7Z1I6|B7Z292|B7Z8B4|E7ER74|E9PEI3|E9PF26|E9PF50|Q6AHY7|Q96HM0|Q96HM1|Q9NVI5|Q9UGG6 hg19 0.02 22.324584 CCAxATC COVERED 1911 0.875 372 0.7560975609756098 293 0.8093922651933702 547 0.9562937062937062 699 0.9221635883905013 T 11.23 1.578663 0.28180 0.816841 0.920465 ENSG00000040341 ENST00000522695;ENST00000524300;ENST00000523558;ENST00000521210;ENST00000355780;ENST00000519961;ENST00000521727;ENST00000522509;ENST00000517542;ENST00000518767;ENST00000521447 T;T;T;T;T;T;T;T;T;T;T 0.63417 -0.04;-0.04;1.51;-0.03;-0.04;-0.04;-0.04;-0.04;-0.04;1.51;-0.04 5.67 1.91 0.25777 . 0.434585 0.28332 N 0.015732 T 0.00012 0.0000 . . . 0.38299 P 0.05708100000000005 B;B;B;B;B;B;B 0.16603 0.002;0.001;0.0;0.004;0.0;0.001;0.018 B;B;B;B;B;B;B 0.17722 0.003;0.003;0.0;0.004;0.0;0.001;0.019 T 0.11916 -1.0568 8 0.40728 T 0.16 -35.1287 1.8597 0.03186 0.1065:0.2475:0.2192:0.4268 rs949493;rs52795332;rs60703096;rs949493 178;94;26;166;198;166;198 E7EPX0;E9PEI3;E7ER74;F8VPI7;E7EVJ4;E9PH62;E9PF26 .;.;.;.;.;.;. M 166;198;26;94;166;198;178;166;160;26;166 ENSP00000428456:V166M;ENSP00000428756:V198M;ENSP00000428741:V26M;ENSP00000429173:V94M;ENSP00000348026:V166M;ENSP00000430907:V198M;ENSP00000429973:V178M;ENSP00000427977:V166M;ENSP00000431111:V160M;ENSP00000429005:V26M;ENSP00000428829:V166M ENSP00000344030:V26M V - 1 0 STAU2 74690550 0.138000 0.22547 0.980000 0.43619 0.927000 0.56198 -0.181000 0.09740 0.150000 0.19136 -0.254000 0.11334 GTG NOVEL STAU2-006 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000379006.4 0 9.002473 KEEP 0 5 151 83 2929 CC 1 1 0 - 40 60 1460 0 0 103.891471 479 60 18352 707 ENST00000521451.1 0.077071 1 STAU2 27067 __UNKNOWN__ __UNKNOWN__ 8 74564469 74564469 __UNKNOWN__ Intron SNP A A C rs12680541 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:74564469A>C ENST00000521451.1 - 2 102 STAU2_ENST00000521210.1_Intron|STAU2_ENST00000517542.1_Intron|STAU2_ENST00000519961.1_Intron|STAU2_ENST00000521727.1_Intron|STAU2_ENST00000522509.1_Intron|STAU2_ENST00000355780.5_Intron|STAU2_ENST00000524300.1_Intron|STAU2_ENST00000523558.1_Intron|STAU2_ENST00000522695.1_Intron Q9NUL3 STAU2_HUMAN staufen double-stranded RNA binding protein 2 NA NA transport (GO:0006810) endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634) double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822) breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1) 19 Breast(64;0.0138) Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972) ATTTCATAGAAGTATGCATTA 0.274 NA A||| 1282 0.25599 0.2806 0.2061 5008 , , NA 14326 0.3542 NA 0.1421 False NA ,,, NA NA NA 2504 0.274 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Y19062 CCDS6214.1, CCDS55244.1, CCDS55245.1, CCDS55246.1, CCDS55247.1, CCDS55248.1 8q21.11 2013-06-05 2013-06-05 ENSG00000040341 ENSG00000040341 27067 11371 protein-coding gene gene with protein product 605920 staufen (Drosophila, RNA-binding protein) homolog 2, staufen, RNA binding protein, homolog 2 (Drosophila) NA 10585778 Standard NM_001164380 NM_014393 NA Approved 39K2 uc003xzm.3 Q9NUL3 OTTHUMG00000164499 ENST00000521451.1:c.275-34783T>G chr8.hg19:g.74564469A>C NA B7Z1I6|B7Z292|B7Z8B4|E7ER74|E9PEI3|E9PF26|E9PF50|Q6AHY7|Q96HM0|Q96HM1|Q9NVI5|Q9UGG6 hg19 0.02 1.965108 AGAxGTA COVERED NOVEL STAU2-006 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000379006.4 1 4.814059 KEEP 0 0 0 16 501 AA 0.997832 0.995001 0 - 10 60 371 0 0 29.338456 61 60 2144 91 ENST00000521451.1 0.140845 0.997163 STAU2 27067 __UNKNOWN__ __UNKNOWN__ 8 74564671 74564671 __UNKNOWN__ Intron SNP G G A rs12676495 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:74564671G>A ENST00000521451.1 - 2 102 STAU2_ENST00000521210.1_Intron|STAU2_ENST00000517542.1_Intron|STAU2_ENST00000519961.1_Intron|STAU2_ENST00000521727.1_Intron|STAU2_ENST00000522509.1_Intron|STAU2_ENST00000355780.5_Intron|STAU2_ENST00000524104.1_3'UTR|STAU2_ENST00000524300.1_Intron|STAU2_ENST00000523558.1_Intron|STAU2_ENST00000522695.1_Intron Q9NUL3 STAU2_HUMAN staufen double-stranded RNA binding protein 2 NA NA transport (GO:0006810) endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634) double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822) breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1) 19 Breast(64;0.0138) Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972) ggccaggcgcggtggctcacg 0.453 NA G||| 1264 0.252396 0.2799 0.2046 5008 , , NA 14457 0.3542 NA 0.1421 False NA ,,, NA NA NA 2504 0.2577 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Y19062 CCDS6214.1, CCDS55244.1, CCDS55245.1, CCDS55246.1, CCDS55247.1, CCDS55248.1 8q21.11 2013-06-05 2013-06-05 ENSG00000040341 ENSG00000040341 27067 11371 protein-coding gene gene with protein product 605920 staufen (Drosophila, RNA-binding protein) homolog 2, staufen, RNA binding protein, homolog 2 (Drosophila) NA 10585778 Standard NM_001164380 NM_014393 NA Approved 39K2 uc003xzm.3 Q9NUL3 OTTHUMG00000164499 ENST00000521451.1:c.275-34985C>T chr8.hg19:g.74564671G>A NA B7Z1I6|B7Z292|B7Z8B4|E7ER74|E9PEI3|E9PF26|E9PF50|Q6AHY7|Q96HM0|Q96HM1|Q9NVI5|Q9UGG6 hg19 0.02 2.38317 CGCxGTG COVERED NOVEL STAU2-006 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000379006.4 1 9.931852 KEEP 0 0 0 33 1138 GG 0.999998 0.99623 0 - 6 60 218 0 0 15.818766 63 60 2213 115 ENST00000521451.1 0.086957 0.996233 STAU2 27067 __UNKNOWN__ __UNKNOWN__ 8 74565271 74565271 __UNKNOWN__ Intron SNP A A T rs10100489|rs386726713 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:74565271A>T ENST00000521451.1 - 2 102 STAU2_ENST00000521210.1_Intron|STAU2_ENST00000517542.1_Intron|STAU2_ENST00000519961.1_Intron|STAU2_ENST00000521727.1_Intron|STAU2_ENST00000522509.1_Intron|STAU2_ENST00000355780.5_Intron|STAU2_ENST00000524104.1_3'UTR|STAU2_ENST00000524300.1_Intron|STAU2_ENST00000523558.1_Intron|STAU2_ENST00000522695.1_Intron Q9NUL3 STAU2_HUMAN staufen double-stranded RNA binding protein 2 NA NA transport (GO:0006810) endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634) double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822) breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1) 19 Breast(64;0.0138) Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972) aaattcaaacaataatatcgg 0.358 NA T||| 4268 0.852236 0.7625 0.7795 5008 , , NA 17817 0.9802 NA 0.9175 False NA ,,, NA NA NA 2504 0.8262 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Y19062 CCDS6214.1, CCDS55244.1, CCDS55245.1, CCDS55246.1, CCDS55247.1, CCDS55248.1 8q21.11 2013-06-05 2013-06-05 ENSG00000040341 ENSG00000040341 27067 11371 protein-coding gene gene with protein product 605920 staufen (Drosophila, RNA-binding protein) homolog 2, staufen, RNA binding protein, homolog 2 (Drosophila) NA 10585778 Standard NM_001164380 NM_014393 NA Approved 39K2 uc003xzm.3 Q9NUL3 OTTHUMG00000164499 ENST00000521451.1:c.275-35585T>A chr8.hg19:g.74565271A>T NA B7Z1I6|B7Z292|B7Z8B4|E7ER74|E9PEI3|E9PF26|E9PF50|Q6AHY7|Q96HM0|Q96HM1|Q9NVI5|Q9UGG6 hg19 0.02 6.179888 AACxATA COVERED NOVEL STAU2-006 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000379006.4 1 6.619777 KEEP 0 0 0 22 700 AA 0.999879 0.999879 0 - 16 60 539 0 0 37.78 176 60 6377 244 ENST00000521451.1 0.083333 1 STAU2 27067 __UNKNOWN__ __UNKNOWN__ 8 74565280 74565280 __UNKNOWN__ Intron SNP G G A rs386726713|rs10100790 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:74565280G>A ENST00000521451.1 - 2 102 STAU2_ENST00000521210.1_Intron|STAU2_ENST00000517542.1_Intron|STAU2_ENST00000519961.1_Intron|STAU2_ENST00000521727.1_Intron|STAU2_ENST00000522509.1_Intron|STAU2_ENST00000355780.5_Intron|STAU2_ENST00000524104.1_3'UTR|STAU2_ENST00000524300.1_Intron|STAU2_ENST00000523558.1_Intron|STAU2_ENST00000522695.1_Intron Q9NUL3 STAU2_HUMAN staufen double-stranded RNA binding protein 2 NA NA transport (GO:0006810) endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634) double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822) breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1) 19 Breast(64;0.0138) Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972) caataatatcggttttcaaga 0.363 NA A||| 4541 0.906749 0.9508 0.8055 5008 , , NA 17702 0.9802 NA 0.9215 False NA ,,, NA NA NA 2504 0.8282 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Y19062 CCDS6214.1, CCDS55244.1, CCDS55245.1, CCDS55246.1, CCDS55247.1, CCDS55248.1 8q21.11 2013-06-05 2013-06-05 ENSG00000040341 ENSG00000040341 27067 11371 protein-coding gene gene with protein product 605920 staufen (Drosophila, RNA-binding protein) homolog 2, staufen, RNA binding protein, homolog 2 (Drosophila) NA 10585778 Standard NM_001164380 NM_014393 NA Approved 39K2 uc003xzm.3 Q9NUL3 OTTHUMG00000164499 ENST00000521451.1:c.275-35594C>T chr8.hg19:g.74565280G>A NA B7Z1I6|B7Z292|B7Z8B4|E7ER74|E9PEI3|E9PF26|E9PF50|Q6AHY7|Q96HM0|Q96HM1|Q9NVI5|Q9UGG6 hg19 0.02 6.613926 ATCxGTT COVERED NOVEL STAU2-006 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000379006.4 1 4.950108 KEEP 0 1 30 27 912 GG 0.999997 0.999997 0 - 15 60 550 0 0 39.446336 173 60 5939 243 ENST00000521451.1 0.079787 1 STAU2 27067 __UNKNOWN__ __UNKNOWN__ 8 74565513 74565513 __UNKNOWN__ Intron SNP T T C rs10090359 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:74565513T>C ENST00000521451.1 - 2 102 STAU2_ENST00000521210.1_Intron|STAU2_ENST00000517542.1_Intron|STAU2_ENST00000519961.1_Intron|STAU2_ENST00000521727.1_Intron|STAU2_ENST00000522509.1_Intron|STAU2_ENST00000355780.5_Intron|STAU2_ENST00000524104.1_3'UTR|STAU2_ENST00000524300.1_Intron|STAU2_ENST00000523558.1_Intron|STAU2_ENST00000522695.1_Intron Q9NUL3 STAU2_HUMAN staufen double-stranded RNA binding protein 2 NA NA transport (GO:0006810) endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634) double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822) breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1) 19 Breast(64;0.0138) Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972) ataaggttgataatgagtcaa 0.313 NA C||| 1722 0.34385 0.3737 0.2493 5008 , , NA 18573 0.4653 NA 0.2237 False NA ,,, NA NA NA 2504 0.3691 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Y19062 CCDS6214.1, CCDS55244.1, CCDS55245.1, CCDS55246.1, CCDS55247.1, CCDS55248.1 8q21.11 2013-06-05 2013-06-05 ENSG00000040341 ENSG00000040341 27067 11371 protein-coding gene gene with protein product 605920 staufen (Drosophila, RNA-binding protein) homolog 2, staufen, RNA binding protein, homolog 2 (Drosophila) NA 10585778 Standard NM_001164380 NM_014393 NA Approved 39K2 uc003xzm.3 Q9NUL3 OTTHUMG00000164499 ENST00000521451.1:c.275-35827A>G chr8.hg19:g.74565513T>C NA B7Z1I6|B7Z292|B7Z8B4|E7ER74|E9PEI3|E9PF26|E9PF50|Q6AHY7|Q96HM0|Q96HM1|Q9NVI5|Q9UGG6 hg19 0.02 10.128563 TGAxAAT COVERED NOVEL STAU2-006 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000379006.4 0 11.132819 KEEP 0 0 0 37 1177 TT 1 1 0 - 13 60 506 0 0 35.389374 206 60 7486 312 ENST00000521451.1 0.059361 1 STAU2 27067 __UNKNOWN__ __UNKNOWN__ 8 74585325 74585325 __UNKNOWN__ Intron SNP A A G rs3780015|rs376472048 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:74585325A>G ENST00000521451.1 - 2 102 RP11-463D19.1_ENST00000533978.1_lincRNA|STAU2_ENST00000521210.1_Intron|STAU2_ENST00000517542.1_Intron|STAU2_ENST00000519961.1_Intron|STAU2_ENST00000521727.1_Intron|STAU2_ENST00000522509.1_Intron|STAU2_ENST00000522962.1_Intron|STAU2_ENST00000355780.5_Intron|STAU2_ENST00000524104.1_Intron|STAU2_ENST00000524300.1_Intron|STAU2_ENST00000523558.1_Intron|STAU2_ENST00000521419.1_Intron|STAU2_ENST00000522695.1_Intron Q9NUL3 STAU2_HUMAN staufen double-stranded RNA binding protein 2 NA NA transport (GO:0006810) endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634) double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822) breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1) 19 Breast(64;0.0138) Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972) GAACAAAACCAAAAAAGACAT 0.343 NA A||| 1204 0.240415 0.2352 0.2032 5008 , , NA 16509 0.3542 NA 0.1412 False NA ,,, NA NA NA 2504 0.2587 NA NA NA NA 0 A ,,,,,, 1051,3355 384.7+/-325.4 126,799,1278 69 71 70 ,,,,,, 5.4 1 8 dbSNP_107 70 1379,7221 266.8+/-286.9 105,1169,3026 no intron,intron,intron,intron,intron,intron,intron STAU2 NM_001164380.1,NM_001164381.1,NM_001164382.1,NM_001164383.1,NM_001164384.1,NM_001164385.1,NM_014393.2 ,,,,,, 231,1968,4304 GG,GA,AA 16.0349,23.8538,18.6837 ,,,,,, ,,,,,, 74585325 2430,10576 2203 4300 6503 SO:0001627 intron_variant Y19062 CCDS6214.1, CCDS55244.1, CCDS55245.1, CCDS55246.1, CCDS55247.1, CCDS55248.1 8q21.11 2013-06-05 2013-06-05 ENSG00000040341 ENSG00000040341 27067 11371 protein-coding gene gene with protein product 605920 staufen (Drosophila, RNA-binding protein) homolog 2, staufen, RNA binding protein, homolog 2 (Drosophila) NA 10585778 Standard NM_001164380 NM_014393 NA Approved 39K2 uc003xzm.3 Q9NUL3 OTTHUMG00000164499 ENST00000521451.1:c.275-55639T>C chr8.hg19:g.74585325A>G NA B7Z1I6|B7Z292|B7Z8B4|E7ER74|E9PEI3|E9PF26|E9PF50|Q6AHY7|Q96HM0|Q96HM1|Q9NVI5|Q9UGG6 hg19 0.02 4.911201 ACCxAAA COVERED NOVEL STAU2-006 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000379006.4 1 5.115162 KEEP 0 0 0 17 523 AA 0.999366 0.999366 0 - 20 60 643 0 0 46.138649 169 60 6148 214 ENST00000521451.1 0.10582 1 TCEB1 6921 __UNKNOWN__ __UNKNOWN__ 8 74857808 74857808 __UNKNOWN__ 3'UTR SNP A A T rs55829836 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:74857808A>T ENST00000518127.1 - 0 1488 TCEB1_ENST00000602840.1_Intron NM_001204857.1|NM_001204858.1|NM_001204859.1|NM_001204860.1|NM_001204862.1 NP_001191786.1|NP_001191787.1|NP_001191788.1|NP_001191789.1|NP_001191791.1 Q15369 ELOC_HUMAN transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C) NA NA cellular response to hypoxia (GO:0071456)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032) cytosol (GO:0005829)|nucleoplasm (GO:0005654) endometrium(2)|kidney(3)|lung(1)|prostate(1) 7 Breast(64;0.0311) Epithelial(68;0.0136)|all cancers(69;0.0431)|BRCA - Breast invasive adenocarcinoma(89;0.0499) TTTTCAAAAAATTTTTTGGCT 0.338 NA T||| 1521 0.303714 0.2526 0.4207 5008 , , NA 17820 0.2381 NA 0.3052 False NA ,,, NA NA NA 2504 0.3558 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L34587 CCDS34910.1, CCDS56539.1 8q13.3 2010-04-21 2002-08-29 ENSG00000154582 ENSG00000154582 6921 11617 protein-coding gene gene with protein product 600788 transcription elongation factor B (SIII), polypeptide 1 (15kD, elongin C) NA 7821821, 7660122 Standard NM_005648 NM_005648 NA Approved SIII uc003xzx.2 Q15369 OTTHUMG00000164501 ENST00000518127.1:c.*1057T>A chr8.hg19:g.74857808A>T NA E5RGD9|Q567Q6 hg19 CCDS34910.1 0.02 5.941846 AAAxTTT COVERED NOVEL TCEB1-004 PUTATIVE basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000379014.1 3 7.489988 KEEP 0 2 60 46 1472 AA 1 1 0 - 6 60 217 0 0 13.071875 179 60 6582 293 ENST00000518127.1 0.032432 1 TMEM70 54968 __UNKNOWN__ __UNKNOWN__ 8 74894748 74894748 __UNKNOWN__ 3'UTR SNP A A G rs2291217 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:74894748A>G ENST00000312184.5 + 0 1748 NM_001040613.2|NM_017866.5 NP_001035703.1|NP_060336.3 Q9BUB7 TMM70_HUMAN transmembrane protein 70 NA NA mitochondrial proton-transporting ATP synthase complex assembly (GO:0033615) integral component of mitochondrial membrane (GO:0032592)|mitochondrial inner membrane (GO:0005743) breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1) 8 Breast(64;0.0311) Epithelial(68;0.0186)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0564) GTTGTTAAAAAATTTTCAAAA 0.353 NA A||| 1083 0.216254 0.115 0.232 5008 , , NA 19775 0.1925 NA 0.2863 False NA ,,, NA NA NA 2504 0.2945 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC002748 CCDS6215.1, CCDS47876.1 8q21.11 2013-05-23 ENSG00000175606 54968 26050 protein-coding gene gene with protein product 612418 NA 21945727, 22986587 Standard NM_017866 NM_017866 NA Approved FLJ20533 uc003yab.3 Q9BUB7 ENST00000312184.5:c.*892A>G chr8.hg19:g.74894748A>G NA E9PDY9|Q9NWY5 hg19 CCDS6215.1 0.02 6.895775 AAAxATT COVERED NOVEL TMEM70-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000379028.1 1 12.938651 KEEP 0 0 0 43 1359 AA 1 1 0 + 9 60 345 0 0 23.063185 181 60 6417 251 ENST00000312184.5 0.047368 1 LY96 23643 __UNKNOWN__ __UNKNOWN__ 8 74917228 74917228 __UNKNOWN__ Intron SNP A A G rs11466001 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:74917228A>G ENST00000518893.1 + 2 129 LY96_ENST00000284818.2_Intron NM_001195797.1 NP_001182726.1 Q9Y6Y9 LY96_HUMAN lymphocyte antigen 96 NA NA cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|response to lipopolysaccharide (GO:0032496)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666) endosome membrane (GO:0010008)|extracellular region (GO:0005576)|lipopolysaccharide receptor complex (GO:0046696)|plasma membrane (GO:0005886) coreceptor activity (GO:0015026)|lipopolysaccharide receptor activity (GO:0001875) endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 5 Breast(64;0.0311) Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619) ttgctacgtaacaaattacca 0.328 NA A||| 1105 0.220647 0.1301 0.2363 5008 , , NA 21442 0.1935 NA 0.2863 False NA ,,, NA NA NA 2504 0.2924 NA NA NA GBM(131;1357 1748 34893 50149 52212) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB018549 CCDS6216.1, CCDS56540.1 8q13.3 2004-01-22 ENSG00000154589 ENSG00000154589 23643 17156 protein-coding gene gene with protein product 605243 NA 10359581, 11466383 Standard NM_015364 NM_015364 NA Approved MD-2 uc003yad.3 Q9Y6Y9 OTTHUMG00000164504 ENST00000518893.1:c.113-5008A>G chr8.hg19:g.74917228A>G NA B3Y6A5|E5RJJ7 hg19 CCDS56540.1 0.02 2.285561 GTAxCAA COVERED NOVEL LY96-003 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000379088.1 1 3.007942 KEEP 0 0 0 10 287 AA 0.992708 0.991932 0 + 4 60 142 0 0 9.215759 76 60 2635 90 ENST00000518893.1 0.05 0.999218 GDAP1 54332 __UNKNOWN__ __UNKNOWN__ 8 75274141 75274141 __UNKNOWN__ Silent SNP T T G rs11554166 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:75274141T>G ENST00000220822.7 + 4 587 c.507T>G c.(505-507)tcT>tcG p.S169S GDAP1_ENST00000521096.1_3'UTR|GDAP1_ENST00000434412.2_Silent_p.S101S NM_001040875.2|NM_018972.2 NP_001035808.1|NP_061845.2 Q8TB36 GDAP1_HUMAN ganglioside induced differentiation associated protein 1 169 GST C-terminal. NA cell death (GO:0008219)|mitochondrial fission (GO:0000266)|protein targeting to mitochondrion (GO:0006626)|response to retinoic acid (GO:0032526) integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|nucleus (GO:0005634) endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Breast(64;0.00769) Myeloproliferative disorder(644;0.0122) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234) ACACAGAGTCTGAGCTGAAGA 0.378 NA T||| 1098 0.219249 0.093 0.1787 5008 , , NA 19465 0.3026 NA 0.3569 False NA ,,, NA NA NA 2504 0.1912 NA NA NA NA 0 T , 564,3842 252.4+/-258.8 27,510,1666 108 102 104 303,507 0.1 1 8 dbSNP_120 104 2736,5864 436.4+/-358.3 437,1862,2001 no coding-synonymous,coding-synonymous GDAP1 NM_001040875.1,NM_018972.2 , 464,2372,3667 GG,GT,TT 31.814,12.8007,25.3729 , 101/291,169/359 75274141 3300,9706 2203 4300 6503 SO:0001819 synonymous_variant CCDS34911.1, CCDS47877.1 8q13.3 2014-09-17 2012-02-09 54332 15968 protein-coding gene gene with protein product 606598 Charcot-Marie-Tooth neuropathy 4A CMT4A NA 8268915, 11743579 Standard NM_018972 NM_018972 NA Approved CMT4 uc003yah.3 Q8TB36 ENST00000220822.7:c.507T>G chr8.hg19:g.75274141T>G NA A8K957|E7FJF3|E7FJF4 hg19 CCDS34911.1 0.02 18.297401 GTCxGAG COVERED NOVEL GDAP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000379061.1 5 6.82414 KEEP 0 3 101 58 1858 TT 1 1 0 + 44 60 1521 0 0 110.766933 401 60 15178 604 ENST00000220822.7 0.098876 1 GDAP1 54332 __UNKNOWN__ __UNKNOWN__ 8 75278816 75278816 __UNKNOWN__ 3'UTR SNP A A G rs10504580 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:75278816A>G ENST00000220822.7 + 0 3371 NM_001040875.2|NM_018972.2 NP_001035808.1|NP_061845.2 Q8TB36 GDAP1_HUMAN ganglioside induced differentiation associated protein 1 NA NA cell death (GO:0008219)|mitochondrial fission (GO:0000266)|protein targeting to mitochondrion (GO:0006626)|response to retinoic acid (GO:0032526) integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|nucleus (GO:0005634) endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Breast(64;0.00769) Myeloproliferative disorder(644;0.0122) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234) TGTACTCATCAATTTCCAAAA 0.308 NA A||| 1149 0.229433 0.1286 0.183 5008 , , NA 18923 0.3026 NA 0.3579 False NA ,,, NA NA NA 2504 0.1912 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS34911.1, CCDS47877.1 8q13.3 2014-09-17 2012-02-09 54332 15968 protein-coding gene gene with protein product 606598 Charcot-Marie-Tooth neuropathy 4A CMT4A NA 8268915, 11743579 Standard NM_018972 NM_018972 NA Approved CMT4 uc003yah.3 Q8TB36 ENST00000220822.7:c.*2214A>G chr8.hg19:g.75278816A>G NA A8K957|E7FJF3|E7FJF4 hg19 CCDS34911.1 0.02 7.830255 ATCxATT COVERED NOVEL GDAP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000379061.1 3 6.754604 KEEP 0 1 33 34 1075 AA 0.999999 0.999999 0 + 16 60 523 1 0 35.485275 191 60 6963 273 ENST00000220822.7 0.077295 1 RP11-758M4.1 0 __UNKNOWN__ __UNKNOWN__ 8 75515469 75515469 __UNKNOWN__ Intron SNP G G A rs2018349 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:75515469G>A ENST00000523118.1 + 1 43 NA NA NA TACACAGATGGATCATGGGTG 0.418 NA G||| 1471 0.29373 0.1899 0.2334 5008 , , NA 18744 0.5734 NA 0.3091 False NA ,,, NA NA NA 2504 0.1728 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000523118.1:c.-16+3326G>A chr8.hg19:g.75515469G>A NA hg19 0.02 2.079131 ATGxATC COVERED NOVEL RP11-758M4.1-001 PUTATIVE basic|appris_principal|exp_conf protein_coding NA protein_coding OTTHUMT00000379070.2 0 5.116705 KEEP 0 0 0 17 605 GG 0.999366 0.983538 0 + 4 60 145 0 0 10.088782 54 60 2002 93 ENST00000523118.1 0.068966 0.984161 CRISPLD1 83690 __UNKNOWN__ __UNKNOWN__ 8 75946695 75946695 __UNKNOWN__ 3'UTR SNP T T G rs13248650 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:75946695T>G ENST00000262207.4 + 0 4189 NM_031461.5 NP_113649.1 Q9H336 CRLD1_HUMAN cysteine-rich secretory protein LCCL domain containing 1 NA NA face morphogenesis (GO:0060325) extracellular vesicular exosome (GO:0070062) biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Breast(64;0.0799) Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161) tcatatactattgatcctttg 0.308 NA T||| 1533 0.30611 0.171 0.3732 5008 , , NA 16183 0.3512 NA 0.341 False NA ,,, NA NA NA 2504 0.3589 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL834301 CCDS6219.1, CCDS69497.1, CCDS75754.1 8q21.13 2005-09-23 2005-02-16 2005-02-16 ENSG00000121005 ENSG00000121005 83690 18206 protein-coding gene gene with protein product LCCL domain containing cysteine-rich secretory protein 1 LCRISP1 NA Standard NM_031461 NM_031461 NA Approved Cocoacrisp, DKFZp762F133 uc003yan.3 Q9H336 OTTHUMG00000164529 ENST00000262207.4:c.*2218T>G chr8.hg19:g.75946695T>G NA B2RA60|B7Z929 hg19 CCDS6219.1 0.02 8.493126 CTAxTGA COVERED NOVEL CRISPLD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000379117.1 1 5.048952 KEEP 0 1 38 30 952 TT 0.999997 0.999997 0 + 8 60 304 0 0 18.916689 237 60 8764 338 ENST00000262207.4 0.032653 1 ZFHX4 79776 __UNKNOWN__ __UNKNOWN__ 8 77764207 77764207 __UNKNOWN__ Missense_Mutation SNP G G A rs28432935 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:77764207G>A ENST00000521891.2 + 10 5498 c.5050G>A c.(5050-5052)Gca>Aca p.A1684T ZFHX4_ENST00000050961.6_Missense_Mutation_p.A1639T|ZFHX4_ENST00000518282.1_Missense_Mutation_p.A1658T|ZFHX4_ENST00000455469.2_Missense_Mutation_p.A1639T NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1639 Gln-rich. NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270) NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) TGCTCAACCTGCACATCACCC 0.418 NA HNSCC(33;0.089) A||| 729 0.145567 0.1467 0.1369 5008 , , NA 21714 0.3532 NA 0.0119 False NA ,,, NA NA NA 2504 0.0736 NA NA NA NA 0 A THR/ALA 476,3588 34,408,1590 102 102 102 5050 -1.7 0.5 8 dbSNP_125 102 93,8327 0,93,4117 yes missense ZFHX4 NM_024721.4 58 34,501,5707 AA,AG,GG 1.1045,11.7126,4.5578 benign 1684/3617 77764207 569,11915 2032 4210 6242 SO:0001583 missense CCDS47878.1, CCDS47878.2 8q21.11 2012-07-02 2007-07-16 ENSG00000091656 ENSG00000091656 79776 Homeoboxes / ZF class 30939 protein-coding gene gene with protein product 606940 zinc finger homeodomain 4 NA 10873665, 11935336 Standard NM_024721 NM_024721 NA Approved ZFH4, FLJ20980 uc003yau.2 Q86UP3 OTTHUMG00000164557 ENST00000521891.2:c.5050G>A chr8.hg19:g.77764207G>A ENSP00000430497:p.Ala1684Thr NA G3V138|Q18PS0|Q6ZN20 hg19 CCDS47878.2 0.02 29.92777 CCTxCAC COVERED 350 0.16025641025641027 69 0.1402439024390244 36 0.09944751381215469 236 0.4125874125874126 9 0.011873350923482849 A 7.871 0.728252 0.15507 0.117126 0.011045 ENSG00000091656 ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282 T;T;T;T 0.49720 0.77;0.81;0.78;0.78 4.14 -1.69 0.08186 . 0.324668 0.21544 N 0.072857 T 0.00012 0.0000 N 0.01482 -0.84 0.80722 P 0.0 B;B;B 0.02656 0.0;0.0;0.0 B;B;B 0.01281 0.0;0.0;0.0 T 0.38993 -0.9635 9 0.10377 T 0.69 . 2.389 0.04373 0.3846:0.3548:0.1454:0.1153 rs28432935;rs60803151 1639;1639;1684 Q86UP3;Q86UP3-4;G3V138 ZFHX4_HUMAN;.;. T 1684;1684;1639;1639;1658 ENSP00000430497:A1684T;ENSP00000399605:A1639T;ENSP00000050961:A1639T;ENSP00000430848:A1658T ENSP00000050961:A1639T A + 1 0 ZFHX4 77926762 0.014000 0.17966 0.511000 0.27724 0.985000 0.73830 -0.067000 0.11579 -0.334000 0.08463 -0.442000 0.05670 GCA NOVEL ZFHX4-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000379197.2 2 26.786861 KEEP 0 0 0 89 3168 GG 1 1 0 + 47 60 1678 0 0 114.52362 683 60 25998 1034 ENST00000521891.2 0.064384 1 PKIA 5569 __UNKNOWN__ __UNKNOWN__ 8 79516759 79516759 __UNKNOWN__ 3'UTR SNP G G T rs1062248|rs386726965 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:79516759G>T ENST00000396418.2 + 0 3420 NM_006823.3|NM_181839.2 NP_006814.1|NP_862822.1 P61925 IPKA_HUMAN protein kinase (cAMP-dependent, catalytic) inhibitor alpha NA NA negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of G2/M transition of mitotic cell cycle (GO:0010389) cytoplasm (GO:0005737)|nucleus (GO:0005634) cAMP-dependent protein kinase inhibitor activity (GO:0004862)|protein kinase A catalytic subunit binding (GO:0034236) central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 6 agaaattgccgttctcaaggc 0.373 NA T||| 1042 0.208067 0.3646 0.1398 5008 , , NA 16634 0.1141 NA 0.2018 False NA ,,, NA NA NA 2504 0.1483 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant S76965 CCDS6222.1 8q21.13 2014-08-12 ENSG00000171033 ENSG00000171033 5569 9017 protein-coding gene gene with protein product 606059 PRKACN1 NA 1770951 Standard NM_006823 NA Approved uc003ybb.3 P61925 OTTHUMG00000164618 ENST00000396418.2:c.*2703G>T chr8.hg19:g.79516759G>T NA P04541|Q6IAV2 hg19 CCDS6222.1 0.02 4.795764 GCCxTTC COVERED NOVEL PKIA-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000379420.1 0 5.41743 KEEP 0 0 0 18 620 GG 0.999859 0.999858 0 + 7 60 266 0 0 18.277207 116 60 4216 161 ENST00000396418.2 0.056911 0.999999 IL7 3574 __UNKNOWN__ __UNKNOWN__ 8 79659182 79659182 __UNKNOWN__ Intron SNP T T A rs16906062 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:79659182T>A ENST00000263851.4 - 3 748 IL7_ENST00000520269.1_Intron NM_000880.3|NM_001199886.1|NM_001199887.1 NP_000871.1|NP_001186815.1|NP_001186816.1 P13232 IL7_HUMAN interleukin 7 NA NA bone resorption (GO:0045453)|cell-cell signaling (GO:0007267)|homeostasis of number of cells within a tissue (GO:0048873)|humoral immune response (GO:0006959)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|organ morphogenesis (GO:0009887)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T cell differentiation (GO:0045582)|regulation of gene expression (GO:0010468)|T cell lineage commitment (GO:0002360) extracellular region (GO:0005576)|extracellular space (GO:0005615) growth factor activity (GO:0008083)|interleukin-7 receptor binding (GO:0005139) endometrium(2)|large_intestine(2)|lung(1) 5 TTTTTTCATATTTTTCTTTTC 0.353 NA T||| 696 0.138978 0.1528 0.1499 5008 , , NA 17603 0.2728 NA 0.0586 False NA ,,, NA NA NA 2504 0.0573 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant J04156 CCDS6224.1, CCDS56541.1, CCDS75755.1, CCDS75756.1 8q12-q13 2008-07-03 ENSG00000104432 3574 Interleukins and interleukin receptors 6023 protein-coding gene gene with protein product 146660 NA Standard NM_000880 NA Approved IL-7 uc003ybg.3 P13232 ENST00000263851.4:c.148-6865A>T chr8.hg19:g.79659182T>A NA A0N0L3|Q5FBY5|Q5FBY9 hg19 CCDS6224.1 0.02 4.68405 ATAxTTT COVERED NOVEL IL7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000379429.1 1 5.716406 KEEP 0 0 0 19 582 TT 0.99986 0.999855 0 - 8 60 293 0 0 20.573404 105 60 3778 147 ENST00000263851.4 0.070796 0.999995 IL7 3574 __UNKNOWN__ __UNKNOWN__ 8 79672382 79672382 __UNKNOWN__ Intron SNP T T C rs2465832 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:79672382T>C ENST00000263851.4 - 3 748 IL7_ENST00000379113.2_Intron|IL7_ENST00000520269.1_Intron NM_000880.3|NM_001199886.1|NM_001199887.1 NP_000871.1|NP_001186815.1|NP_001186816.1 P13232 IL7_HUMAN interleukin 7 NA NA bone resorption (GO:0045453)|cell-cell signaling (GO:0007267)|homeostasis of number of cells within a tissue (GO:0048873)|humoral immune response (GO:0006959)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|organ morphogenesis (GO:0009887)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T cell differentiation (GO:0045582)|regulation of gene expression (GO:0010468)|T cell lineage commitment (GO:0002360) extracellular region (GO:0005576)|extracellular space (GO:0005615) growth factor activity (GO:0008083)|interleukin-7 receptor binding (GO:0005139) endometrium(2)|large_intestine(2)|lung(1) 5 GTCTCTTAGGTATTTTCCACA 0.333 NA T||| 1285 0.256589 0.4599 0.2089 5008 , , NA 18823 0.3075 NA 0.0915 False NA ,,, NA NA NA 2504 0.1329 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant J04156 CCDS6224.1, CCDS56541.1, CCDS75755.1, CCDS75756.1 8q12-q13 2008-07-03 ENSG00000104432 3574 Interleukins and interleukin receptors 6023 protein-coding gene gene with protein product 146660 NA Standard NM_000880 NA Approved IL-7 uc003ybg.3 P13232 ENST00000263851.4:c.148-20065A>G chr8.hg19:g.79672382T>C NA A0N0L3|Q5FBY5|Q5FBY9 hg19 CCDS6224.1 0.02 7.129204 AGGxATT COVERED NOVEL IL7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000379429.1 0 4.813482 KEEP 2 0 0 16 497 TT 0.997832 0.997832 0 - 8 60 303 0 0 20.509611 144 60 5158 188 ENST00000263851.4 0.052632 1 ZBTB10 65986 __UNKNOWN__ __UNKNOWN__ 8 81438420 81438420 __UNKNOWN__ 3'UTR SNP C C T rs1051920 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:81438420C>T ENST00000430430.1 + 0 10052 NM_001277145.1 NP_001264074.1 Q96DT7 ZBT10_HUMAN zinc finger and BTB domain containing 10 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4) 20 all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06) BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296) TCGGTCTATACGTGAAAAAAC 0.323 NA T||| 2091 0.417532 0.8033 0.2579 5008 , , NA 19840 0.2778 NA 0.2753 False NA ,,, NA NA NA 2504 0.2996 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK022814 CCDS47880.1, CCDS64920.1 8q13-q21.1 2013-01-09 ENSG00000205189 ENSG00000205189 65986 -, BTB/POZ domain containing, Zinc fingers, C2H2-type 30953 protein-coding gene gene with protein product NA 12477932 Standard NM_023929 NM_001105539 NA Approved RINZF, FLJ12752 uc003ybx.5 Q96DT7 OTTHUMG00000155016 ENST00000430430.1:c.*6657C>T chr8.hg19:g.81438420C>T NA A4FVD0|Q86W96|Q8IXI9|Q96MH9 hg19 CCDS47880.1 0.02 6.537042 ATAxGTG COVERED NOVEL ZBTB10-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000338055.2 0 14.143753 KEEP 0 0 0 47 1579 CC 1 1 0 + 8 60 300 0 0 19.728591 166 60 5653 266 ENST00000430430.1 0.045977 1 ZNF704 619279 __UNKNOWN__ __UNKNOWN__ 8 81545195 81545195 __UNKNOWN__ 3'UTR SNP C C T rs1045667 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:81545195C>T ENST00000327835.3 - 0 9876 NM_001033723.2 NP_001028895.1 Q6ZNC4 ZN704_HUMAN zinc finger protein 704 NA NA metal ion binding (GO:0046872) lung(9)|skin(1)|upper_aerodigestive_tract(1) 11 all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06) BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277) TTTGAGGCTCCTTCTAGCTCC 0.348 NA C||| 1352 0.269968 0.0136 0.3746 5008 , , NA 17798 0.4087 NA 0.3708 False NA ,,, NA NA NA 2504 0.2955 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK131274 CCDS34913.1 8q21.13 2008-05-02 ENSG00000164684 ENSG00000164684 619279 32291 protein-coding gene gene with protein product NA Standard NM_001033723 NM_001033723 NA Approved FLJ16218, Gig1 uc003yby.2 Q6ZNC4 OTTHUMG00000164733 ENST00000327835.3:c.*8406G>A chr8.hg19:g.81545195C>T NA B2RNE6|B9EGW6 hg19 CCDS34913.1 0.02 7.094082 CTCxTTC COVERED NOVEL ZNF704-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000379964.2 0 6.019319 KEEP 0 0 0 20 716 CC 0.999863 0.999863 0 - 11 60 418 0 0 29.778143 145 60 5478 224 ENST00000327835.3 0.070513 1 ZNF704 619279 __UNKNOWN__ __UNKNOWN__ 8 81551652 81551652 __UNKNOWN__ 3'UTR SNP G G A rs10755966 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:81551652G>A ENST00000327835.3 - 0 3419 NM_001033723.2 NP_001028895.1 Q6ZNC4 ZN704_HUMAN zinc finger protein 704 NA NA metal ion binding (GO:0046872) lung(9)|skin(1)|upper_aerodigestive_tract(1) 11 all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06) BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277) ACATTTCTGCGTTTAAAAAAA 0.448 NA G||| 1336 0.266773 0.0129 0.3703 5008 , , NA 16989 0.4137 NA 0.3668 False NA ,,, NA NA NA 2504 0.2822 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK131274 CCDS34913.1 8q21.13 2008-05-02 ENSG00000164684 ENSG00000164684 619279 32291 protein-coding gene gene with protein product NA Standard NM_001033723 NM_001033723 NA Approved FLJ16218, Gig1 uc003yby.2 Q6ZNC4 OTTHUMG00000164733 ENST00000327835.3:c.*1949C>T chr8.hg19:g.81551652G>A NA B2RNE6|B9EGW6 hg19 CCDS34913.1 0.02 4.019308 TGCxTTT COVERED NOVEL ZNF704-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000379964.2 1 9.029041 KEEP 0 0 0 30 1059 GG 0.999997 0.999997 0 - 7 60 245 0 0 15.964686 125 60 4430 195 ENST00000327835.3 0.05303 1 PAG1 55824 __UNKNOWN__ __UNKNOWN__ 8 81888246 81888246 __UNKNOWN__ 3'UTR SNP A A G rs75678564 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:81888246A>G ENST00000220597.4 - 0 2542 NM_018440.3 NP_060910.3 Q9NWQ8 PHAG1_HUMAN phosphoprotein membrane anchor with glycosphingolipid microdomains 1 NA NA epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular signal transduction (GO:0035556)|negative regulation of T cell activation (GO:0050868)|positive regulation of signal transduction (GO:0009967)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852) integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886) SH2 domain binding (GO:0042169)|SH3/SH2 adaptor activity (GO:0005070) breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2) 11 Lung NSC(7;5.76e-06)|all_lung(9;2e-05) BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197) ATGGTTTGTCACCATCCTAAA 0.527 NA G||| 14 0.00279553 0.0 0.0 5008 , , NA 17278 0.0139 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF240634 CCDS6227.1 8q21.13 2014-04-30 2014-04-30 55824 30043 protein-coding gene gene with protein product Csk-binding protein, transmembrane adaptor protein PAG 605767 phosphoprotein associated with glycosphingolipid microdomains 1 NA 10790433 Standard NM_018440 XM_006716461 NA Approved PAG, CBP uc003ybz.3 Q9NWQ8 ENST00000220597.4:c.*533T>C chr8.hg19:g.81888246A>G NA A8K1A3|Q2M1Z9|Q5BKU4|Q9NYK0 hg19 CCDS6227.1 0.02 3.769699 GTCxCCA COVERED NOVEL PAG1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000379352.3 1 11.431207 KEEP 0 0 0 38 1138 AA 1 1 0 - 6 60 218 0 0 13.745839 143 60 4968 223 ENST00000220597.4 0.040268 1 PAG1 55824 __UNKNOWN__ __UNKNOWN__ 8 81905314 81905314 __UNKNOWN__ Intron SNP A A C rs2016459 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:81905314A>C ENST00000220597.4 - 4 836 NM_018440.3 NP_060910.3 Q9NWQ8 PHAG1_HUMAN phosphoprotein membrane anchor with glycosphingolipid microdomains 1 NA NA epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular signal transduction (GO:0035556)|negative regulation of T cell activation (GO:0050868)|positive regulation of signal transduction (GO:0009967)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852) integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886) SH2 domain binding (GO:0042169)|SH3/SH2 adaptor activity (GO:0005070) breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2) 11 Lung NSC(7;5.76e-06)|all_lung(9;2e-05) BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197) TTTAAGGCACAGGTATATACA 0.493 NA C||| 2612 0.521565 0.8608 0.3141 5008 , , NA 17505 0.499 NA 0.329 False NA ,,, NA NA NA 2504 0.4315 NA NA NA NA 0 C 3271,1135 405.8+/-333.6 1231,809,163 76 78 77 -1.5 0 8 dbSNP_92 77 2777,5823 678.5+/-403.5 435,1907,1958 no intron PAG1 NM_018440.3 1666,2716,2121 CC,CA,AA 32.2907,25.7603,46.5016 81905314 6048,6958 2203 4300 6503 SO:0001627 intron_variant AF240634 CCDS6227.1 8q21.13 2014-04-30 2014-04-30 55824 30043 protein-coding gene gene with protein product Csk-binding protein, transmembrane adaptor protein PAG 605767 phosphoprotein associated with glycosphingolipid microdomains 1 NA 10790433 Standard NM_018440 XM_006716461 NA Approved PAG, CBP uc003ybz.3 Q9NWQ8 ENST00000220597.4:c.125+23T>G chr8.hg19:g.81905314A>C NA A8K1A3|Q2M1Z9|Q5BKU4|Q9NYK0 hg19 CCDS6227.1 0.02 9.748297 CACxGGT COVERED NOVEL PAG1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000379352.3 2 13.576343 KEEP 0 1 34 57 1805 AA 1 1 0 - 10 60 344 0 0 20.56292 263 60 9645 391 ENST00000220597.4 0.03663 1 PAG1 55824 __UNKNOWN__ __UNKNOWN__ 8 81905397 81905397 __UNKNOWN__ Silent SNP A A G rs2016465 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:81905397A>G ENST00000220597.4 - 4 776 c.66T>C c.(64-66)gcT>gcC p.A22A NM_018440.3 NP_060910.3 Q9NWQ8 PHAG1_HUMAN phosphoprotein membrane anchor with glycosphingolipid microdomains 1 22 NA epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular signal transduction (GO:0035556)|negative regulation of T cell activation (GO:0050868)|positive regulation of signal transduction (GO:0009967)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852) integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886) SH2 domain binding (GO:0042169)|SH3/SH2 adaptor activity (GO:0005070) breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2) 11 Lung NSC(7;5.76e-06)|all_lung(9;2e-05) BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197) TGGCGACAGCAGCCAGACTTC 0.567 NA G||| 2624 0.523962 0.8487 0.3156 5008 , , NA 18022 0.5268 NA 0.326 False NA ,,, NA NA NA 2504 0.4335 NA NA NA NA 0 G 3250,1156 410.4+/-335.4 1214,822,167 81 75 77 66 -10.7 0 8 dbSNP_92 77 2778,5822 678.6+/-403.5 439,1900,1961 no coding-synonymous PAG1 NM_018440.3 1653,2722,2128 GG,GA,AA 32.3023,26.2369,46.3478 22/433 81905397 6028,6978 2203 4300 6503 SO:0001819 synonymous_variant AF240634 CCDS6227.1 8q21.13 2014-04-30 2014-04-30 55824 30043 protein-coding gene gene with protein product Csk-binding protein, transmembrane adaptor protein PAG 605767 phosphoprotein associated with glycosphingolipid microdomains 1 NA 10790433 Standard NM_018440 XM_006716461 NA Approved PAG, CBP uc003ybz.3 Q9NWQ8 ENST00000220597.4:c.66T>C chr8.hg19:g.81905397A>G NA A8K1A3|Q2M1Z9|Q5BKU4|Q9NYK0 hg19 CCDS6227.1 0.02 12.220626 AGCxGCC COVERED NOVEL PAG1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000379352.3 3 17.621045 KEEP 0 2 64 81 2562 AA 1 1 0 - 19 60 633 0 0 40.522197 324 60 12008 503 ENST00000220597.4 0.055394 1 PAG1 55824 __UNKNOWN__ __UNKNOWN__ 8 81905533 81905533 __UNKNOWN__ 5'UTR SNP G G A rs895267 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:81905533G>A ENST00000220597.4 - 0 640 NM_018440.3 NP_060910.3 Q9NWQ8 PHAG1_HUMAN phosphoprotein membrane anchor with glycosphingolipid microdomains 1 NA NA epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular signal transduction (GO:0035556)|negative regulation of T cell activation (GO:0050868)|positive regulation of signal transduction (GO:0009967)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852) integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886) SH2 domain binding (GO:0042169)|SH3/SH2 adaptor activity (GO:0005070) breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2) 11 Lung NSC(7;5.76e-06)|all_lung(9;2e-05) BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197) TGGAGGCAGAGAGCTGTGTCC 0.587 NA G||| 2417 0.482628 0.7663 0.3055 5008 , , NA 19126 0.4792 NA 0.3012 False NA ,,, NA NA NA 2504 0.4151 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF240634 CCDS6227.1 8q21.13 2014-04-30 2014-04-30 55824 30043 protein-coding gene gene with protein product Csk-binding protein, transmembrane adaptor protein PAG 605767 phosphoprotein associated with glycosphingolipid microdomains 1 NA 10790433 Standard NM_018440 XM_006716461 NA Approved PAG, CBP uc003ybz.3 Q9NWQ8 ENST00000220597.4:c.-71C>T chr8.hg19:g.81905533G>A NA A8K1A3|Q2M1Z9|Q5BKU4|Q9NYK0 hg19 CCDS6227.1 0.02 17.679488 AGAxAGC COVERED NOVEL PAG1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000379352.3 3 25.053695 KEEP 0 2 68 107 3860 GG 1 1 0 - 20 60 725 0 0 47.308619 392 60 15002 660 ENST00000220597.4 0.048544 1 PMP2 5375 __UNKNOWN__ __UNKNOWN__ 8 82353078 82353078 __UNKNOWN__ 3'UTR SNP T T G rs2167255 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:82353078T>G ENST00000256103.2 - 0 3090 RP11-157I4.4_ENST00000524085.2_RNA NM_002677.3 NP_002668.1 P02689 MYP2_HUMAN peripheral myelin protein 2 NA NA membrane organization (GO:0061024) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062) cholesterol binding (GO:0015485)|fatty acid binding (GO:0005504)|transporter activity (GO:0005215) endometrium(1)|kidney(1)|large_intestine(1)|lung(3) 6 Epithelial(68;0.186) attatggccctttacctcaaa 0.299 NA G||| 2687 0.536542 0.7519 0.4611 5008 , , NA 19186 0.749 NA 0.3121 False NA ,,, NA NA NA 2504 0.3108 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X62167 CCDS6229.1 8q21.3-q22.1 2013-03-01 ENSG00000147588 ENSG00000147588 5375 Fatty acid binding protein family 9117 protein-coding gene gene with protein product 170715 NA 1720307, 8288226 Standard NM_002677 NM_002677 NA Approved MP2, FABP8, M-FABP uc003ycb.1 P02689 OTTHUMG00000164600 ENST00000256103.2:c.*2555A>C chr8.hg19:g.82353078T>G NA Q6FHL4 hg19 CCDS6229.1 0.02 11.049803 CCCxTTA COVERED NOVEL PMP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000379365.1 2 7.52322 KEEP 0 0 0 25 804 TT 0.999931 0.999931 0 - 12 60 407 0 0 25.361437 249 60 9181 334 ENST00000256103.2 0.045977 1 PMP2 5375 __UNKNOWN__ __UNKNOWN__ 8 82353503 82353503 __UNKNOWN__ 3'UTR SNP T T C rs10112249 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:82353503T>C ENST00000256103.2 - 0 2665 RP11-157I4.4_ENST00000524085.2_RNA NM_002677.3 NP_002668.1 P02689 MYP2_HUMAN peripheral myelin protein 2 NA NA membrane organization (GO:0061024) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062) cholesterol binding (GO:0015485)|fatty acid binding (GO:0005504)|transporter activity (GO:0005215) endometrium(1)|kidney(1)|large_intestine(1)|lung(3) 6 Epithelial(68;0.186) ttttttccattgcatggttac 0.393 NA C||| 1759 0.351238 0.3555 0.3285 5008 , , NA 20067 0.748 NA 0.1421 False NA ,,, NA NA NA 2504 0.1677 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X62167 CCDS6229.1 8q21.3-q22.1 2013-03-01 ENSG00000147588 ENSG00000147588 5375 Fatty acid binding protein family 9117 protein-coding gene gene with protein product 170715 NA 1720307, 8288226 Standard NM_002677 NM_002677 NA Approved MP2, FABP8, M-FABP uc003ycb.1 P02689 OTTHUMG00000164600 ENST00000256103.2:c.*2130A>G chr8.hg19:g.82353503T>C NA Q6FHL4 hg19 CCDS6229.1 0.02 4.23003 CATxGCA COVERED NOVEL PMP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000379365.1 0 3.910172 KEEP 0 0 0 13 373 TT 0.994391 0.994391 0 - 12 60 441 0 0 31.969287 130 60 4648 171 ENST00000256103.2 0.084507 1 PMP2 5375 __UNKNOWN__ __UNKNOWN__ 8 82353594 82353594 __UNKNOWN__ 3'UTR SNP G G T rs10097844 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:82353594G>T ENST00000256103.2 - 0 2574 RP11-157I4.4_ENST00000524085.2_RNA NM_002677.3 NP_002668.1 P02689 MYP2_HUMAN peripheral myelin protein 2 NA NA membrane organization (GO:0061024) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062) cholesterol binding (GO:0015485)|fatty acid binding (GO:0005504)|transporter activity (GO:0005215) endometrium(1)|kidney(1)|large_intestine(1)|lung(3) 6 Epithelial(68;0.186) ctgctcctaagcgaaatttcc 0.383 NA T||| 1765 0.352436 0.3578 0.3314 5008 , , NA 19620 0.747 NA 0.1421 False NA ,,, NA NA NA 2504 0.1697 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X62167 CCDS6229.1 8q21.3-q22.1 2013-03-01 ENSG00000147588 ENSG00000147588 5375 Fatty acid binding protein family 9117 protein-coding gene gene with protein product 170715 NA 1720307, 8288226 Standard NM_002677 NM_002677 NA Approved MP2, FABP8, M-FABP uc003ycb.1 P02689 OTTHUMG00000164600 ENST00000256103.2:c.*2039C>A chr8.hg19:g.82353594G>T NA Q6FHL4 hg19 CCDS6229.1 0.02 9.299235 TAAxCGA COVERED NOVEL PMP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000379365.1 1 8.099941 KEEP 0 0 0 27 945 GG 0.999988 0.999988 0 - 15 60 555 0 0 39.195144 195 60 7433 289 ENST00000256103.2 0.071429 1 PMP2 5375 __UNKNOWN__ __UNKNOWN__ 8 82354156 82354156 __UNKNOWN__ 3'UTR SNP T T C rs10113055 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:82354156T>C ENST00000256103.2 - 0 2012 RP11-157I4.4_ENST00000524085.2_RNA NM_002677.3 NP_002668.1 P02689 MYP2_HUMAN peripheral myelin protein 2 NA NA membrane organization (GO:0061024) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062) cholesterol binding (GO:0015485)|fatty acid binding (GO:0005504)|transporter activity (GO:0005215) endometrium(1)|kidney(1)|large_intestine(1)|lung(3) 6 Epithelial(68;0.186) tggcaaactatattagacacg 0.378 NA T||| 584 0.116613 0.0514 0.1081 5008 , , NA 17654 0.3601 NA 0.0577 False NA ,,, NA NA NA 2504 0.0204 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X62167 CCDS6229.1 8q21.3-q22.1 2013-03-01 ENSG00000147588 ENSG00000147588 5375 Fatty acid binding protein family 9117 protein-coding gene gene with protein product 170715 NA 1720307, 8288226 Standard NM_002677 NM_002677 NA Approved MP2, FABP8, M-FABP uc003ycb.1 P02689 OTTHUMG00000164600 ENST00000256103.2:c.*1477A>G chr8.hg19:g.82354156T>C NA Q6FHL4 hg19 CCDS6229.1 0.02 4.602741 CTAxATT COVERED NOVEL PMP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000379365.1 2 4.814208 KEEP 0 0 0 16 500 TT 0.997832 0.997832 0 - 12 60 456 0 0 33.352447 133 60 4850 187 ENST00000256103.2 0.082759 1 PMP2 5375 __UNKNOWN__ __UNKNOWN__ 8 82355518 82355518 __UNKNOWN__ 3'UTR SNP A A G rs6990882 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:82355518A>G ENST00000519260.1 - 0 393 RP11-157I4.4_ENST00000524085.2_RNA|PMP2_ENST00000256103.2_3'UTR P02689 MYP2_HUMAN peripheral myelin protein 2 NA NA membrane organization (GO:0061024) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062) cholesterol binding (GO:0015485)|fatty acid binding (GO:0005504)|transporter activity (GO:0005215) endometrium(1)|kidney(1)|large_intestine(1)|lung(3) 6 Epithelial(68;0.186) TGCATATCTGATATATTAAGA 0.279 NA A||| 1760 0.351438 0.357 0.3285 5008 , , NA 17410 0.747 NA 0.1421 False NA ,,, NA NA NA 2504 0.1677 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X62167 CCDS6229.1 8q21.3-q22.1 2013-03-01 ENSG00000147588 ENSG00000147588 5375 Fatty acid binding protein family 9117 protein-coding gene gene with protein product 170715 NA 1720307, 8288226 Standard NM_002677 NM_002677 NA Approved MP2, FABP8, M-FABP uc003ycb.1 P02689 OTTHUMG00000164600 ENST00000519260.1:c.*158T>C chr8.hg19:g.82355518A>G NA Q6FHL4 hg19 0.02 8.387877 CTGxTAT COVERED NOVEL PMP2-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000379366.1 3 3.309831 KEEP 0 0 0 11 354 AA 0.993072 0.993072 0 - 15 60 527 0 0 35.96896 209 60 7399 237 ENST00000519260.1 0.066964 1 PMP2 5375 __UNKNOWN__ __UNKNOWN__ 8 82355621 82355621 __UNKNOWN__ 3'UTR SNP A A G rs6473276 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:82355621A>G ENST00000519260.1 - 0 290 RP11-157I4.4_ENST00000524085.2_RNA|PMP2_ENST00000256103.2_3'UTR P02689 MYP2_HUMAN peripheral myelin protein 2 NA NA membrane organization (GO:0061024) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062) cholesterol binding (GO:0015485)|fatty acid binding (GO:0005504)|transporter activity (GO:0005215) endometrium(1)|kidney(1)|large_intestine(1)|lung(3) 6 Epithelial(68;0.186) ACTTCAATGAAGAAATGATTT 0.323 NA G||| 2691 0.53734 0.7564 0.4611 5008 , , NA 15310 0.748 NA 0.3121 False NA ,,, NA NA NA 2504 0.3098 NA NA NA NA 0 G 3064,1340 446.1+/-347.9 1068,928,206 90 90 90 -1.6 0 8 dbSNP_116 90 2875,5717 668.7+/-402.6 477,1921,1898 no utr-3 PMP2 NM_002677.3 1545,2849,2104 GG,GA,AA 33.4614,30.4269,45.6987 82355621 5939,7057 2202 4296 6498 SO:0001624 3_prime_UTR_variant X62167 CCDS6229.1 8q21.3-q22.1 2013-03-01 ENSG00000147588 ENSG00000147588 5375 Fatty acid binding protein family 9117 protein-coding gene gene with protein product 170715 NA 1720307, 8288226 Standard NM_002677 NM_002677 NA Approved MP2, FABP8, M-FABP uc003ycb.1 P02689 OTTHUMG00000164600 ENST00000519260.1:c.*55T>C chr8.hg19:g.82355621A>G NA Q6FHL4 hg19 0.02 21.083295 TGAxGAA COVERED NOVEL PMP2-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000379366.1 1 10.168616 KEEP 0 1 38 47 1553 AA 1 1 0 - 20 60 763 0 0 49.97266 448 60 16736 647 ENST00000519260.1 0.042735 1 PMP2 5375 __UNKNOWN__ __UNKNOWN__ 8 82357112 82357112 __UNKNOWN__ Intron SNP T T C rs2229015 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:82357112T>C ENST00000519260.1 - 2 126 RP11-157I4.4_ENST00000524085.2_RNA|PMP2_ENST00000256103.2_Silent_p.E62E P02689 MYP2_HUMAN peripheral myelin protein 2 NA NA membrane organization (GO:0061024) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062) cholesterol binding (GO:0015485)|fatty acid binding (GO:0005504)|transporter activity (GO:0005215) endometrium(1)|kidney(1)|large_intestine(1)|lung(3) 6 Epithelial(68;0.186) TGAAGGAGATTTCTGTATTTT 0.398 NA C||| 1760 0.351438 0.357 0.3285 5008 , , NA 19779 0.748 NA 0.1412 False NA ,,, NA NA NA 2504 0.1677 NA NA NA NA 0 C 1469,2937 678.9+/-403.6 258,953,992 142 140 141 186 4.6 1 8 dbSNP_98 141 1449,7151 750.6+/-407.4 131,1187,2982 no coding-synonymous PMP2 NM_002677.3 389,2140,3974 CC,CT,TT 16.8488,33.3409,22.4358 62/133 82357112 2918,10088 2203 4300 6503 SO:0001627 intron_variant X62167 CCDS6229.1 8q21.3-q22.1 2013-03-01 ENSG00000147588 ENSG00000147588 5375 Fatty acid binding protein family 9117 protein-coding gene gene with protein product 170715 NA 1720307, 8288226 Standard NM_002677 NM_002677 NA Approved MP2, FABP8, M-FABP uc003ycb.1 P02689 OTTHUMG00000164600 ENST00000519260.1:c.74-276A>G chr8.hg19:g.82357112T>C NA Q6FHL4 hg19 0.02 7.52669 GATxTCT COVERED NOVEL PMP2-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000379366.1 0 6.018351 KEEP 0 0 0 20 641 TT 0.999863 0.999863 0 - 11 60 431 0 0 30.50944 164 60 5926 240 ENST00000519260.1 0.062857 1 FABP9 646480 __UNKNOWN__ __UNKNOWN__ 8 82370696 82370696 __UNKNOWN__ Intron SNP C C T rs28485205 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:82370696C>T ENST00000379071.2 - 4 404 RP11-157I4.4_ENST00000524085.2_RNA NM_001080526.1 NP_001073995.1 Q0Z7S8 FABP9_HUMAN fatty acid binding protein 9, testis NA NA acrosome assembly (GO:0001675) acrosomal vesicle (GO:0001669) lipid binding (GO:0008289)|transporter activity (GO:0005215) breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1) 6 Epithelial(68;0.186) TCTATTAGAGCTGGTAGATAA 0.383 NA T||| 1505 0.300519 0.357 0.232 5008 , , NA 18663 0.6716 NA 0.0825 False NA ,,, NA NA NA 2504 0.1145 NA NA NA NA 0 T 1451,2955 679.6+/-403.7 246,959,998 82 81 81 0.5 0 8 dbSNP_125 81 904,7696 776.7+/-407.7 47,810,3443 no intron FABP9 NM_001080526.1 293,1769,4441 TT,TC,CC 10.5116,32.9324,18.107 82370696 2355,10651 2203 4300 6503 SO:0001627 intron_variant 8q21.13 2013-03-01 ENSG00000205186 ENSG00000205186 646480 Fatty acid binding protein family 3563 protein-coding gene gene with protein product NA 7958448 Standard NM_001080526 NM_001080526 NA Approved PERF, T-FABP, PERF15 uc011lfo.2 Q0Z7S8 OTTHUMG00000164601 ENST00000379071.2:c.349-28G>A chr8.hg19:g.82370696C>T NA hg19 0.02 19.837651 GAGxTGG COVERED NOVEL FABP9-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000379367.2 4 11.437055 KEEP 0 0 0 38 1359 CC 1 1 0 - 28 60 1008 0 0 68.302264 434 60 16521 570 ENST00000379071.2 0.060606 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 82517736 82517736 __UNKNOWN__ IGR SNP C C T rs76472042 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:82517736C>T NA NA RP11-257P3.3 (72226 upstream) : IMPA1P (20555 downstream) NA NA NA ATCTGAAACACGTATCCACAG 0.353 NA .||| 274 0.0547125 0.0159 0.0303 5008 , , NA 18858 0.1002 NA 0.0318 False NA ,,, NA NA NA 2504 0.1012 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr8.hg19:g.82517736C>T NA hg19 0.02 6.677184 ACAxGTA COVERED NOVEL 0 2 8.125867 KEEP 0 0 0 27 927 CC 0.999988 0.999988 0 10 60 370 0 0 25.587246 148 60 5419 230 0.063291 1 IMPA1 3612 __UNKNOWN__ __UNKNOWN__ 8 82570390 82570390 __UNKNOWN__ 3'UTR SNP C C T rs915 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:82570390C>T ENST00000256108.5 - 0 2495 NM_005536.3 NP_005527.1 P29218 IMPA1_HUMAN inositol(myo)-1(or 4)-monophosphatase 1 NA NA inositol biosynthetic process (GO:0006021)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) identical protein binding (GO:0042802)|inositol monophosphate 1-phosphatase activity (GO:0008934)|inositol monophosphate 3-phosphatase activity (GO:0052832)|inositol monophosphate 4-phosphatase activity (GO:0052833)|inositol monophosphate phosphatase activity (GO:0052834)|lithium ion binding (GO:0031403)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein homodimerization activity (GO:0042803) NS(1)|cervix(1)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|stomach(1) 18 Lithium(DB01356) GAAAACTTTACAGAAGCATTT 0.303 NA N||| 2318 0.462859 0.5076 0.3429 5008 , , NA 14277 0.7411 NA 0.3688 False NA ,,, NA NA NA 2504 0.2975 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS6231.1, CCDS47883.1, CCDS47884.1 8q21.1-q21.3 2008-01-28 ENSG00000133731 ENSG00000133731 3612 3.1.3.25 6050 protein-coding gene gene with protein product 602064 IMPA NA 1377913 Standard NM_005536 NA Approved uc011lfq.1 P29218 OTTHUMG00000164682 ENST00000256108.5:c.*1196G>A chr8.hg19:g.82570390C>T NA B2R733|B4DLN3|B7Z6Q4|J3KQT7|Q9UK71 hg19 CCDS6231.1 0.02 9.24115 TTAxAGA COVERED NOVEL IMPA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000379723.1 2 15.048173 KEEP 0 0 0 50 1758 CC 1 1 0 - 16 60 596 0 0 42.048471 213 60 8093 340 ENST00000256108.5 0.069869 1 IMPA1 3612 __UNKNOWN__ __UNKNOWN__ 8 82570631 82570631 __UNKNOWN__ 3'UTR SNP C C T rs1058401 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:82570631C>T ENST00000256108.5 - 0 2254 NM_005536.3 NP_005527.1 P29218 IMPA1_HUMAN inositol(myo)-1(or 4)-monophosphatase 1 NA NA inositol biosynthetic process (GO:0006021)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) identical protein binding (GO:0042802)|inositol monophosphate 1-phosphatase activity (GO:0008934)|inositol monophosphate 3-phosphatase activity (GO:0052832)|inositol monophosphate 4-phosphatase activity (GO:0052833)|inositol monophosphate phosphatase activity (GO:0052834)|lithium ion binding (GO:0031403)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein homodimerization activity (GO:0042803) NS(1)|cervix(1)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|stomach(1) 18 Lithium(DB01356) GAAAAATAAACAGTTCAATAT 0.289 NA T||| 1965 0.392372 0.351 0.2853 5008 , , NA 16455 0.7411 NA 0.3181 False NA ,,, NA NA NA 2504 0.2413 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS6231.1, CCDS47883.1, CCDS47884.1 8q21.1-q21.3 2008-01-28 ENSG00000133731 ENSG00000133731 3612 3.1.3.25 6050 protein-coding gene gene with protein product 602064 IMPA NA 1377913 Standard NM_005536 NA Approved uc011lfq.1 P29218 OTTHUMG00000164682 ENST00000256108.5:c.*955G>A chr8.hg19:g.82570631C>T NA B2R733|B4DLN3|B7Z6Q4|J3KQT7|Q9UK71 hg19 CCDS6231.1 0.02 3.912666 AAAxAGT COVERED NOVEL IMPA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000379723.1 1 11.738101 KEEP 0 0 0 39 1369 CC 1 1 0 - 6 60 215 0 0 13.536165 138 60 5208 209 ENST00000256108.5 0.041667 1 SLC10A5 347051 __UNKNOWN__ __UNKNOWN__ 8 82606416 82606416 __UNKNOWN__ Silent SNP T T C rs6995098 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:82606416T>C ENST00000518568.1 - 1 1993 c.792A>G c.(790-792)tcA>tcG p.S264S NM_001010893.2 NP_001010893.1 Q5PT55 NTCP5_HUMAN solute carrier family 10, member 5 264 NA integral component of membrane (GO:0016021) bile acid:sodium symporter activity (GO:0008508) autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5) 15 GGAATGTACCTGACAACCCTA 0.353 NA T||| 432 0.086262 0.1377 0.0548 5008 , , NA 19327 0.0833 NA 0.0318 False NA ,,, NA NA NA 2504 0.0982 NA NA NA NA 0 T 492,3914 221.3+/-238.5 29,434,1740 74 77 76 792 -6.2 0 8 dbSNP_116 76 265,8335 101.2+/-162.5 6,253,4041 no coding-synonymous SLC10A5 NM_001010893.2 35,687,5781 CC,CT,TT 3.0814,11.1666,5.8204 264/439 82606416 757,12249 2203 4300 6503 SO:0001819 synonymous_variant CCDS34915.1 8q21.13 2013-07-18 2013-07-18 ENSG00000253598 ENSG00000253598 347051 Solute carriers 22981 protein-coding gene gene with protein product NA Standard XM_294493 NM_001010893 NA Approved uc011lfs.2 Q5PT55 OTTHUMG00000164683 ENST00000518568.1:c.792A>G chr8.hg19:g.82606416T>C NA B2RN26 hg19 CCDS34915.1 0.02 8.51142 ACCxGAC COVERED NOVEL SLC10A5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000379736.1 1 10.831406 KEEP 0 0 0 36 1111 TT 0.999999 0.999999 0 - 12 60 418 0 0 26.758591 232 60 8496 317 ENST00000518568.1 0.04918 1 SLC10A5 347051 __UNKNOWN__ __UNKNOWN__ 8 82607068 82607068 __UNKNOWN__ Missense_Mutation SNP C C G rs78323957 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:82607068C>G ENST00000518568.1 - 1 1341 c.140G>C c.(139-141)aGt>aCt p.S47T NM_001010893.2 NP_001010893.1 Q5PT55 NTCP5_HUMAN solute carrier family 10, member 5 47 NA integral component of membrane (GO:0016021) bile acid:sodium symporter activity (GO:0008508) autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5) 15 GTAGCTTGAACTTACAAGGAT 0.368 NA C||| 325 0.0648962 0.0658 0.0375 5008 , , NA 19287 0.0833 NA 0.0318 False NA ,,, NA NA NA 2504 0.0982 NA NA NA NA 0 C THR/SER 220,4186 131.8+/-168.3 3,214,1986 116 110 112 140 -0.3 0 8 dbSNP_131 112 262,8336 101.2+/-162.5 6,250,4043 yes missense SLC10A5 NM_001010893.2 58 9,464,6029 GG,GC,CC 3.0472,4.9932,3.7066 benign 47/439 82607068 482,12522 2203 4299 6502 SO:0001583 missense CCDS34915.1 8q21.13 2013-07-18 2013-07-18 ENSG00000253598 ENSG00000253598 347051 Solute carriers 22981 protein-coding gene gene with protein product NA Standard XM_294493 NM_001010893 NA Approved uc011lfs.2 Q5PT55 OTTHUMG00000164683 ENST00000518568.1:c.140G>C chr8.hg19:g.82607068C>G ENSP00000428612:p.Ser47Thr NA B2RN26 hg19 CCDS34915.1 0.02 2.097854 GAAxTTA COVERED 124 0.056776556776556776 32 0.06504065040650407 15 0.04143646408839779 54 0.0944055944055944 23 0.030343007915567283 C 1.886 -0.456560 0.04540 0.049932 0.030472 ENSG00000253598 ENST00000518568 T 0.09538 2.97 6.07 -0.329 0.12686 . 0.687394 0.12720 N 0.444780 T 0.00210 0.0006 N 0.08118 0 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.41197 -0.9522 10 0.44086 T 0.13 -2.4373 5.6734 0.17735 0.0:0.4533:0.1293:0.4174 . 47 Q5PT55 NTCP5_HUMAN T 47 ENSP00000428612:S47T ENSP00000428612:S47T S - 2 0 SLC10A5 82769623 0.000000 0.05858 0.003000 0.11579 0.121000 0.20230 -0.627000 0.05521 -0.105000 0.12132 -0.137000 0.14449 AGT NOVEL SLC10A5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000379736.1 0 9.932678 KEEP 0 0 0 33 1191 CC 0.999998 0.999833 0 - 5 60 192 0 0 13.20105 85 60 3213 145 ENST00000518568.1 0.055556 0.999835 ZFAND1 79752 __UNKNOWN__ __UNKNOWN__ 8 82627395 82627395 __UNKNOWN__ Intron SNP A A C rs58900840 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:82627395A>C ENST00000220669.5 - 4 157 ZFAND1_ENST00000522520.1_Intron|ZFAND1_ENST00000517588.1_Intron|ZFAND1_ENST00000519523.1_Intron|ZFAND1_ENST00000521895.1_Intron|ZFAND1_ENST00000521287.1_Intron|ZFAND1_ENST00000523096.1_Intron NM_024699.2 NP_078975.2 Q8TCF1 ZFAN1_HUMAN zinc finger, AN1-type domain 1 NA NA zinc ion binding (GO:0008270) kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 13 CAGACCTAAAACAAATCAATG 0.308 NA C||| 2083 0.415935 0.3616 0.3026 5008 , , NA 20963 0.8065 NA 0.2734 False NA ,,, NA NA NA 2504 0.3139 NA NA NA NA 0 C ,, 1530,2876 281,968,954 51 49 50 ,, -3.6 0 8 dbSNP_129 50 2196,6402 292,1612,2395 no intron,intron,intron ZFAND1 NM_001170796.1,NM_001170797.1,NM_024699.2 ,, 573,2580,3349 CC,CA,AA 25.5408,34.7254,28.6527 ,, ,, 82627395 3726,9278 2203 4299 6502 SO:0001627 intron_variant CCDS6232.1, CCDS55250.1, CCDS55251.1 8q21.13 2006-07-07 79752 Zinc fingers, AN1-type domain containing 25858 protein-coding gene gene with protein product NA 12477932 Standard NM_024699 NM_024699 NA Approved FLJ14007 uc003ycj.2 Q8TCF1 ENST00000220669.5:c.139-46T>G chr8.hg19:g.82627395A>C NA E5RIG0|E5RJ99|Q658R7|Q6IA32|Q6PGQ6|Q9H810 hg19 CCDS6232.1 0.02 19.438715 AAAxCAA COVERED NOVEL ZFAND1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000379739.1 2 17.449665 KEEP 0 0 0 58 1756 AA 1 1 0 - 31 60 1118 0 0 77.233426 431 60 15178 553 ENST00000220669.5 0.0671 1 CHMP4C 92421 __UNKNOWN__ __UNKNOWN__ 8 82644768 82644768 __UNKNOWN__ 5'UTR SNP C C G rs79561719 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:82644768C>G ENST00000297265.4 + 0 100 NM_152284.3 NP_689497.1 Q96CF2 CHM4C_HUMAN charged multivesicular body protein 4C NA NA abscission (GO:0009838)|cytokinesis checkpoint (GO:0031565)|endosomal transport (GO:0016197)|membrane organization (GO:0061024)|negative regulation of cytokinesis (GO:0032466)|positive regulation of viral release from host cell (GO:1902188)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032) cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Flemming body (GO:0090543)|membrane (GO:0016020)|midbody (GO:0030496) protein homodimerization activity (GO:0042803) NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(2)|skin(1) 10 TCTGGGTCCCCGAGAGGACTG 0.677 NA C||| 348 0.0694888 0.0885 0.0389 5008 , , NA 14251 0.0754 NA 0.0318 False NA ,,, NA NA NA 2504 0.0982 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AK000049 CCDS6233.1 8q21.13 2011-09-21 2011-09-21 ENSG00000164695 ENSG00000164695 92421 Charged multivesicular body proteins 30599 protein-coding gene gene with protein product Snf7 homologue associated with Alix 3 610899 chromatin modifying protein 4C NA 12860994 , 14678797 Standard NM_152284 NM_152284 NA Approved MGC22825, Shax3, VPS32C uc003ycl.3 Q96CF2 OTTHUMG00000164726 ENST00000297265.4:c.-94C>G chr8.hg19:g.82644768C>G NA B2RBZ1 hg19 CCDS6233.1 0.02 13.838102 CCCxGAG COVERED NOVEL CHMP4C-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000379927.1 1 24.075008 KEEP 0 0 0 80 2735 CC 1 1 0 + 10 60 369 0 0 22.551464 297 60 10268 500 ENST00000297265.4 0.032573 1 ATP6V0D2 245972 __UNKNOWN__ __UNKNOWN__ 8 87111154 87111154 __UNKNOWN__ 5'UTR SNP C C T rs74667635 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:87111154C>T ENST00000285393.3 + 0 89 NM_152565.1 NP_689778.1 Q8N8Y2 VA0D2_HUMAN ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2 NA NA ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085) apical plasma membrane (GO:0016324)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|vacuolar proton-transporting V-type ATPase complex (GO:0016471) hydrogen ion transmembrane transporter activity (GO:0015078) breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1) 27 TCTTCAGGGGCCGTCCAGGAC 0.502 NA C||| 226 0.0451278 0.0008 0.0764 5008 , , NA 18646 0.1607 NA 0.001 False NA ,,, NA NA NA 2504 0.0092 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AY079172 CCDS6241.1 8q21.3 2014-01-28 2006-01-20 2002-05-24 ENSG00000147614 ENSG00000147614 245972 ATPases / V-type 18266 protein-coding gene gene with protein product ATPase, H+ transporting, lysosomal 38kD, V0 subunit d isoform 2, ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 2, ATPase, H+ transporting, lysosomal 38kDa, V0 subunit D2 NA 12384298 Standard NM_152565 NM_152565 NA Approved FLJ38708, VMA6, ATP6D2 uc003ydp.1 Q8N8Y2 OTTHUMG00000163637 ENST00000285393.3:c.-54C>T chr8.hg19:g.87111154C>T NA hg19 CCDS6241.1 0.02 6.089526 GGGxCGT COVERED NOVEL ATP6V0D2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000374651.1 0 4.815018 KEEP 0 0 0 16 550 CC 0.997832 0.997832 0 + 8 60 262 0 0 15.670689 183 60 6641 225 ENST00000285393.3 0.041885 1 SLC7A13 157724 __UNKNOWN__ __UNKNOWN__ 8 87235150 87235150 __UNKNOWN__ Intron SNP C C T rs2976190 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:87235150C>T ENST00000297524.3 - 2 921 SLC7A13_ENST00000419776.2_Intron|SLC7A13_ENST00000520624.1_Intron NM_138817.2 NP_620172.2 Q8TCU3 S7A13_HUMAN solute carrier family 7 (anionic amino acid transporter), member 13 NA NA integral component of membrane (GO:0016021) amino acid transmembrane transporter activity (GO:0015171) breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 45 ATGATAGTTACGTTGAAAGGA 0.353 NA T||| 2630 0.52516 0.5961 0.5245 5008 , , NA 15700 0.498 NA 0.3708 False NA ,,, NA NA NA 2504 0.6166 NA NA NA NA 0 T 2471,1935 546.3+/-377.0 685,1101,417 68 69 69 0.4 0 8 dbSNP_101 69 3206,5394 649.6+/-400.6 601,2004,1695 yes intron SLC7A13 NM_138817.2 1286,3105,2112 TT,TC,CC 37.2791,43.9174,43.6491 87235150 5677,7329 2203 4300 6503 SO:0001627 intron_variant AJ417661 CCDS34917.1 8q21.3 2013-07-15 2011-07-12 ENSG00000164893 ENSG00000164893 157724 Solute carriers 23092 protein-coding gene gene with protein product NA 11907033, 11943479 Standard NM_138817 XM_005250804 NA Approved AGT-1, XAT2 uc003ydq.1 Q8TCU3 OTTHUMG00000163663 ENST00000297524.3:c.817+50G>A chr8.hg19:g.87235150C>T NA Q05C37|Q08AH9|Q96N84 hg19 CCDS34917.1 0.02 12.985042 TTAxGTT COVERED NOVEL SLC7A13-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000374704.1 0 7.493556 KEEP 0 2 60 46 1627 CC 1 1 0 - 20 60 748 0 0 51.748324 304 60 11029 448 ENST00000297524.3 0.061728 1 SLC7A13 157724 __UNKNOWN__ __UNKNOWN__ 8 87241847 87241847 __UNKNOWN__ Silent SNP G G A rs7814198 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:87241847G>A ENST00000297524.3 - 1 763 c.660C>T c.(658-660)ggC>ggT p.G220G SLC7A13_ENST00000419776.2_Splice_Site|SLC7A13_ENST00000520624.1_Intron NM_138817.2 NP_620172.2 Q8TCU3 S7A13_HUMAN solute carrier family 7 (anionic amino acid transporter), member 13 220 NA integral component of membrane (GO:0016021) amino acid transmembrane transporter activity (GO:0015171) breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 45 AGCATGCCCCGCCTGAATATG 0.353 NA G||| 2232 0.445687 0.4932 0.4481 5008 , , NA 21344 0.502 NA 0.2296 False NA ,,, NA NA NA 2504 0.544 NA NA NA NA 0 G 1947,2459 552.0+/-378.4 443,1061,699 140 134 136 660 -9.4 0 8 dbSNP_116 136 2012,6588 352.7+/-328.8 237,1538,2525 no coding-synonymous SLC7A13 NM_138817.2 680,2599,3224 AA,AG,GG 23.3953,44.1897,30.4398 220/471 87241847 3959,9047 2203 4300 6503 SO:0001819 synonymous_variant AJ417661 CCDS34917.1 8q21.3 2013-07-15 2011-07-12 ENSG00000164893 ENSG00000164893 157724 Solute carriers 23092 protein-coding gene gene with protein product NA 11907033, 11943479 Standard NM_138817 XM_005250804 NA Approved AGT-1, XAT2 uc003ydq.1 Q8TCU3 OTTHUMG00000163663 ENST00000297524.3:c.660C>T chr8.hg19:g.87241847G>A NA Q05C37|Q08AH9|Q96N84 hg19 CCDS34917.1 0.02 18.883481 CCCxCCT COVERED 803 0.3676739926739927 211 0.42886178861788615 142 0.39226519337016574 271 0.4737762237762238 179 0.23614775725593667 G 2.670 -0.277869 0.05679 0.441897 0.233953 ENSG00000164893 ENST00000419776 . . . 4.68 -9.36 0.00629 . . . . . . . . . . . 0.38146 P 0.061417000000000055 . . . . . . . . . . . . . . 6.1558 0.20335 0.5134:0.0:0.1228:0.3638 rs7814198;rs59432753;rs7814198 . . . . -1 . . . - . . SLC7A13 87310963 0.001000 0.12720 0.000000 0.03702 0.452000 0.32318 -1.919000 0.01572 -2.658000 0.00420 -1.263000 0.01449 . NOVEL SLC7A13-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000374704.1 4 13.542627 KEEP 0 0 0 45 1523 GG 1 1 0 - 31 60 1133 0 0 80.058036 393 60 13801 583 ENST00000297524.3 0.073113 1 WWP1 11059 __UNKNOWN__ __UNKNOWN__ 8 87474085 87474085 __UNKNOWN__ Intron SNP A A G rs7460650 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:87474085A>G ENST00000517970.1 + 24 2976 WWP1_ENST00000349423.2_Intron|WWP1_ENST00000265428.4_Intron|WWP1_ENST00000341922.2_Intron NM_007013.3 NP_008944.1 Q9H0M0 WWP1_HUMAN WW domain containing E3 ubiquitin protein ligase 1 NA NA central nervous system development (GO:0007417)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151) ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842) endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1) 31 GGTAAGTTCAAGAATCCTAAA 0.333 NA A||| 1761 0.351637 0.1528 0.5043 5008 , , NA 18040 0.5317 NA 0.2714 False NA ,,, NA NA NA 2504 0.409 NA NA NA NA 0 A 752,3654 304.1+/-288.3 71,610,1522 83 88 86 5.5 0.9 8 dbSNP_116 86 2161,6439 366.6+/-334.4 280,1601,2419 no intron WWP1 NM_007013.3 351,2211,3941 GG,GA,AA 25.1279,17.0676,22.3974 87474085 2913,10093 2203 4300 6503 SO:0001627 intron_variant AY043361 CCDS6242.1 8q21.3 2013-07-22 ENSG00000123124 ENSG00000123124 11059 17004 protein-coding gene gene with protein product 602307 NA 9169421, 9647693 Standard NM_007013 NM_007013 NA Approved AIP5, DKFZP434D2111 uc003ydt.3 Q9H0M0 OTTHUMG00000163690 ENST00000517970.1:c.2669+10A>G chr8.hg19:g.87474085A>G NA O00307|Q5YLC1|Q96BP4 hg19 CCDS6242.1 0.02 19.450053 TCAxGAA COVERED NOVEL WWP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000374755.1 2 17.490054 KEEP 0 1 37 71 2309 AA 1 1 0 + 26 60 972 0 0 67.377826 390 60 14712 629 ENST00000517970.1 0.0625 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 87480890 87480890 __UNKNOWN__ IGR SNP C C T rs7017706 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:87480890C>T NA NA WWP1 (158 upstream) : RMDN1 (3688 downstream) NA NA NA GTGCTGGTCTCCCTCAAGTAA 0.418 NA C||| 1762 0.351837 0.1528 0.5043 5008 , , NA 18356 0.5327 NA 0.2714 False NA ,,, NA NA NA 2504 0.409 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr8.hg19:g.87480890C>T NA hg19 0.02 22.295101 TCTxCCT COVERED NOVEL 0 4 24.449021 KEEP 0 2 65 104 3623 CC 1 1 0 18 60 624 0 0 36.579135 561 60 20813 865 0.031088 1 RMDN1 51115 __UNKNOWN__ __UNKNOWN__ 8 87484669 87484669 __UNKNOWN__ 3'UTR SNP C C T rs13282351 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:87484669C>T ENST00000406452.3 - 0 2972 RMDN1_ENST00000523911.1_3'UTR NM_016033.2 NP_057117.2 Q96DB5 RMD1_HUMAN regulator of microtubule dynamics 1 NA NA microtubule (GO:0005874)|mitochondrion (GO:0005739) NA cctagaaagacccacttcctg 0.393 NA C||| 1770 0.353435 0.1528 0.5072 5008 , , NA 19419 0.5327 NA 0.2773 False NA ,,, NA NA NA 2504 0.409 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK000672 CCDS34918.1, CCDS69509.1, CCDS69510.1 8q21.3 2013-01-11 2013-01-11 2013-01-11 ENSG00000176623 ENSG00000176623 51115 24285 protein-coding gene gene with protein product 611871 family with sequence similarity 82, member B FAM82B NA 10810093 Standard NM_016033 NM_016033 NA Approved CGI-90, FLJ20665, RMD1 uc003ydu.3 Q96DB5 OTTHUMG00000163692 ENST00000406452.3:c.*1868G>A chr8.hg19:g.87484669C>T NA A9UMZ8|B4DNF5|B4DZW6|B5MC61|C9JSC6|E7EVI2|Q9Y398 hg19 CCDS34918.1 0.02 29.644907 AGAxCCA COVERED NOVEL RMDN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000374770.2 4 27.965331 KEEP 0 5 160 149 5297 CC 1 1 0 - 36 60 1318 0 0 87.552713 658 60 24626 1123 ENST00000406452.3 0.051873 1 RMDN1 51115 __UNKNOWN__ __UNKNOWN__ 8 87484913 87484913 __UNKNOWN__ 3'UTR SNP G G A rs13042 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:87484913G>A ENST00000406452.3 - 0 2728 RMDN1_ENST00000523911.1_Intron NM_016033.2 NP_057117.2 Q96DB5 RMD1_HUMAN regulator of microtubule dynamics 1 NA NA microtubule (GO:0005874)|mitochondrion (GO:0005739) NA ccttgttcctgtgcgagttat 0.348 NA A||| 2126 0.424521 0.3275 0.5331 5008 , , NA 18514 0.5347 NA 0.3091 False NA ,,, NA NA NA 2504 0.4836 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK000672 CCDS34918.1, CCDS69509.1, CCDS69510.1 8q21.3 2013-01-11 2013-01-11 2013-01-11 ENSG00000176623 ENSG00000176623 51115 24285 protein-coding gene gene with protein product 611871 family with sequence similarity 82, member B FAM82B NA 10810093 Standard NM_016033 NM_016033 NA Approved CGI-90, FLJ20665, RMD1 uc003ydu.3 Q96DB5 OTTHUMG00000163692 ENST00000406452.3:c.*1624C>T chr8.hg19:g.87484913G>A NA A9UMZ8|B4DNF5|B4DZW6|B5MC61|C9JSC6|E7EVI2|Q9Y398 hg19 CCDS34918.1 0.02 15.096148 CCTxTGC COVERED NOVEL RMDN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000374770.2 1 11.104277 KEEP 0 2 57 57 2003 GG 1 1 0 - 17 60 561 0 0 34.040113 367 60 13434 531 ENST00000406452.3 0.044271 1 RMDN1 51115 __UNKNOWN__ __UNKNOWN__ 8 87485483 87485483 __UNKNOWN__ 3'UTR SNP G G C rs6471354 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:87485483G>C ENST00000406452.3 - 0 2158 RMDN1_ENST00000523911.1_Intron NM_016033.2 NP_057117.2 Q96DB5 RMD1_HUMAN regulator of microtubule dynamics 1 NA NA microtubule (GO:0005874)|mitochondrion (GO:0005739) NA CACACAGTCTGTCTTTATCTA 0.368 NA C||| 3569 0.71266 0.9455 0.7305 5008 , , NA 18855 0.5853 NA 0.5835 False NA ,,, NA NA NA 2504 0.6493 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK000672 CCDS34918.1, CCDS69509.1, CCDS69510.1 8q21.3 2013-01-11 2013-01-11 2013-01-11 ENSG00000176623 ENSG00000176623 51115 24285 protein-coding gene gene with protein product 611871 family with sequence similarity 82, member B FAM82B NA 10810093 Standard NM_016033 NM_016033 NA Approved CGI-90, FLJ20665, RMD1 uc003ydu.3 Q96DB5 OTTHUMG00000163692 ENST00000406452.3:c.*1054C>G chr8.hg19:g.87485483G>C NA A9UMZ8|B4DNF5|B4DZW6|B5MC61|C9JSC6|E7EVI2|Q9Y398 hg19 CCDS34918.1 0.02 6.680782 TCTxTCT COVERED NOVEL RMDN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000374770.2 1 9.931848 KEEP 0 0 0 33 1149 GG 0.999998 0.999998 0 - 6 60 227 0 0 14.309859 163 60 6204 245 ENST00000406452.3 0.035503 1 RMDN1 51115 __UNKNOWN__ __UNKNOWN__ 8 87486168 87486168 __UNKNOWN__ 3'UTR SNP T T C rs4961193 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:87486168T>C ENST00000406452.3 - 0 1473 RMDN1_ENST00000523911.1_Intron NM_016033.2 NP_057117.2 Q96DB5 RMD1_HUMAN regulator of microtubule dynamics 1 NA NA microtubule (GO:0005874)|mitochondrion (GO:0005739) NA ATCAATCCAATTTGAAAATCC 0.388 NA C||| 1791 0.357628 0.1672 0.5072 5008 , , NA 16912 0.5337 NA 0.2783 False NA ,,, NA NA NA 2504 0.409 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK000672 CCDS34918.1, CCDS69509.1, CCDS69510.1 8q21.3 2013-01-11 2013-01-11 2013-01-11 ENSG00000176623 ENSG00000176623 51115 24285 protein-coding gene gene with protein product 611871 family with sequence similarity 82, member B FAM82B NA 10810093 Standard NM_016033 NM_016033 NA Approved CGI-90, FLJ20665, RMD1 uc003ydu.3 Q96DB5 OTTHUMG00000163692 ENST00000406452.3:c.*369A>G chr8.hg19:g.87486168T>C NA A9UMZ8|B4DNF5|B4DZW6|B5MC61|C9JSC6|E7EVI2|Q9Y398 hg19 CCDS34918.1 0.02 11.760834 CAAxTTG COVERED NOVEL RMDN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000374770.2 1 15.645254 KEEP 0 0 0 52 1601 TT 1 1 0 - 21 60 795 0 0 57.479667 249 60 9004 394 ENST00000406452.3 0.077778 1 CNGB3 54714 __UNKNOWN__ __UNKNOWN__ 8 87755891 87755891 __UNKNOWN__ 5'UTR SNP A A C rs7812496 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:87755891A>C ENST00000320005.5 - 0 12 RP11-386D6.1_ENST00000519041.1_RNA NM_019098.4 NP_061971.3 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 NA NA cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601) integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495) cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249) NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 80 CTCTGTATTTATGACTGTGCC 0.363 NA A||| 452 0.0902556 0.1551 0.0735 5008 , , NA 19170 0.1161 NA 0.0417 False NA ,,, NA NA NA 2504 0.0378 NA NA NA NA 0 A 518,3888 236.5+/-248.6 23,472,1708 131 117 122 3.7 0 8 dbSNP_116 122 287,8313 107.8+/-168.5 4,279,4017 no utr-5 CNGB3 NM_019098.4 27,751,5725 CC,CA,AA 3.3372,11.7567,6.1895 87755891 805,12201 2203 4300 6503 SO:0001623 5_prime_UTR_variant AF228520 CCDS6244.1 8q21.3 2013-01-23 2003-06-25 ENSG00000170289 ENSG00000170289 54714 Voltage-gated ion channels / Cyclic nucleotide-regulated channels 2153 protein-coding gene gene with protein product 605080 achromatopsia (rod monochromacy) 3, achromatopsia (rod monochromacy) 1 ACHM3, ACHM1, RMCH NA 10888875, 10958649, 16382102 Standard NM_019098 NM_019098 NA Approved uc003ydx.3 Q9NQW8 OTTHUMG00000163738 ENST00000320005.5:c.-36T>G chr8.hg19:g.87755891A>C NA C9JA51|Q9NRE9 hg19 CCDS6244.1 0.02 29.843133 TTTxTGA COVERED NOVEL CNGB3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000375107.1 1 30.085652 KEEP 0 0 0 100 3090 AA 1 1 0 - 26 60 1031 0 0 68.303898 613 60 22507 938 ENST00000320005.5 0.040689 1 DCAF4L2 138009 __UNKNOWN__ __UNKNOWN__ 8 88884864 88884864 __UNKNOWN__ 3'UTR SNP C C T rs143611658 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:88884864C>T ENST00000319675.3 - 0 1432 NM_152418.3 NP_689631.1 Q8NA75 DC4L2_HUMAN DDB1 and CUL4 associated factor 4-like 2 NA NA breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 ACTATCTTCACATAAAACAGC 0.388 NA C||| 1 0.000199681 0.0008 0.0 5008 , , NA 17362 0.0 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL833507 CCDS6245.1 8q21.3 2013-01-09 2009-07-17 2009-07-17 ENSG00000176566 138009 WD repeat domain containing 26657 protein-coding gene gene with protein product WD repeat domain 21C WDR21C NA 14702039 Standard NM_152418 NM_152418 NA Approved uc003ydz.3 Q8NA75 ENST00000319675.3:c.*148G>A chr8.hg19:g.88884864C>T NA hg19 CCDS6245.1 0.02 11.093699 TCAxATA COVERED NOVEL DCAF4L2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000375302.1 4 8.427295 KEEP 0 0 0 28 985 CC 0.999997 0.999997 0 - 10 60 365 0 0 22.94303 246 60 9443 361 ENST00000319675.3 0.039062 1 RIPK2 8767 __UNKNOWN__ __UNKNOWN__ 8 90802995 90802995 __UNKNOWN__ 3'UTR SNP A A G rs16900627 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:90802995A>G ENST00000220751.4 + 0 2288 NM_003821.5 NP_003812.1 O43353 RIPK2_HUMAN receptor-interacting serine-threonine kinase 2 NA NA activation of MAPK activity (GO:0000187)|adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|defense response to Gram-positive bacterium (GO:0050830)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070427)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of immature T cell proliferation (GO:0033091)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|response to exogenous dsRNA (GO:0043330)|response to interleukin-1 (GO:0070555)|response to interleukin-12 (GO:0070671)|response to interleukin-18 (GO:0070673)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|T cell proliferation (GO:0042098)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|protein complex (GO:0043234)|vesicle (GO:0031982) ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|LIM domain binding (GO:0030274)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871) kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2) 10 BRCA - Breast invasive adenocarcinoma(11;0.0474) CTAAGATGCAATTTGATTTTA 0.353 NA A||| 891 0.177915 0.4077 0.0836 5008 , , NA 15041 0.1597 NA 0.0666 False NA ,,, NA NA NA 2504 0.0675 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AC004003 CCDS6247.1 8q21 2008-05-02 ENSG00000104312 ENSG00000104312 8767 10020 protein-coding gene gene with protein product 603455 NA 9575181, 9705938 Standard XM_005251092 NA Approved RICK, RIP2, CARDIAK, CARD3 uc003yee.3 O43353 OTTHUMG00000163809 ENST00000220751.4:c.*351A>G chr8.hg19:g.90802995A>G NA B7Z748|Q6UWF0 hg19 CCDS6247.1 0.02 11.520948 GCAxTTT COVERED NOVEL RIPK2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000375686.1 2 14.740643 KEEP 0 0 0 49 1549 AA 1 1 0 + 12 60 459 0 0 29.988425 275 60 10011 409 ENST00000220751.4 0.041812 1 OSGIN2 734 __UNKNOWN__ __UNKNOWN__ 8 90933554 90933554 __UNKNOWN__ Intron SNP A A G rs2697676 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:90933554A>G ENST00000451899.2 + 5 880 OSGIN2_ENST00000297438.2_Intron NM_001126111.1 NP_001119583.1 Q9Y236 OSGI2_HUMAN oxidative stress induced growth inhibitor family member 2 NA NA meiotic nuclear division (GO:0007126) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1) 17 BRCA - Breast invasive adenocarcinoma(11;0.0344) ATAATATGCTAGTTTTCATTT 0.303 NA A||| 1341 0.267772 0.0847 0.2983 5008 , , NA 16510 0.4236 NA 0.2932 False NA ,,, NA NA NA 2504 0.3067 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF061326 CCDS6248.1, CCDS47888.1 8q21 2006-10-05 2006-10-05 2006-10-05 ENSG00000164823 ENSG00000164823 734 1355 protein-coding gene gene with protein product 604598 chromosome 8 open reading frame 1 C8orf1 NA 9933573 Standard NM_004337 NM_004337 NA Approved hT41 uc003yeh.3 Q9Y236 OTTHUMG00000163811 ENST00000451899.2:c.620+155A>G chr8.hg19:g.90933554A>G NA hg19 CCDS47888.1 0.02 13.042315 GCTxGTT COVERED NOVEL OSGIN2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000375692.1 2 14.443977 KEEP 0 0 0 48 1519 AA 1 1 0 + 12 60 436 0 0 26.966374 317 60 11798 441 ENST00000451899.2 0.036474 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 90945514 90945514 __UNKNOWN__ IGR SNP C C T rs2021882 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:90945514C>T NA NA OSGIN2 (5398 upstream) : NBN (49 downstream) NA NA NA taagctatgacgtaggttaag 0.338 NA T||| 1652 0.329872 0.2799 0.3141 5008 , , NA 21896 0.4206 NA 0.2942 False NA ,,, NA NA NA 2504 0.3517 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr8.hg19:g.90945514C>T NA hg19 0.02 1.845562 TGAxGTA COVERED NOVEL 0 1 2.708445 KEEP 0 0 0 9 302 CC 0.99254 0.992471 0 4 60 152 0 0 9.889281 92 60 3339 106 0.041667 0.99993 NBN 4683 __UNKNOWN__ __UNKNOWN__ 8 90946056 90946056 __UNKNOWN__ 3'UTR SNP A A G rs9995 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:90946056A>G ENST00000265433.3 - 0 4173 NBN_ENST00000409330.1_3'UTR NM_002485.4 NP_002476.2 O60934 NBN_HUMAN nibrin NA NA blastocyst growth (GO:0001832)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|DNA damage checkpoint (GO:0000077)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intrinsic apoptotic signaling pathway (GO:0097193)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G2 DNA damage checkpoint (GO:0007095)|neuromuscular process controlling balance (GO:0050885)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|telomere maintenance (GO:0000723) Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nuclear inclusion body (GO:0042405)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|replication fork (GO:0005657)|site of double-strand break (GO:0035861) damaged DNA binding (GO:0003684)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134) autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(11;0.0344) atctcaatacatatatccgac 0.289 NA Homologous recombination G||| 1680 0.335463 0.2965 0.3184 5008 , , NA 16625 0.4206 NA 0.2972 False NA ,,, NA NA NA 2504 0.3517 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF058696 CCDS6249.1 8q21-q24 2014-09-17 2005-06-02 2005-06-02 ENSG00000104320 ENSG00000104320 4683 7652 protein-coding gene gene with protein product 602667 Nijmegen breakage syndrome 1 (nibrin) NBS, NBS1 NA 9590181, 9590180 Standard NM_001024688 XM_005250923 NA Approved ATV, AT-V2, AT-V1 uc003yej.1 O60934 OTTHUMG00000153546 ENST00000265433.3:c.*1754T>C chr8.hg19:g.90946056A>G NA B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2 hg19 CCDS6249.1 0.02 6.123549 TACxTAT COVERED NOVEL NBN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000331583.3 3 14.142716 KEEP 0 0 0 47 1474 AA 1 1 0 - 10 60 343 0 0 22.13792 177 60 6540 266 ENST00000265433.3 0.053476 1 NBN 4683 __UNKNOWN__ __UNKNOWN__ 8 90946601 90946601 __UNKNOWN__ 3'UTR SNP T T G rs1063054 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:90946601T>G ENST00000265433.3 - 0 3628 NBN_ENST00000409330.1_3'UTR NM_002485.4 NP_002476.2 O60934 NBN_HUMAN nibrin NA NA blastocyst growth (GO:0001832)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|DNA damage checkpoint (GO:0000077)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intrinsic apoptotic signaling pathway (GO:0097193)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G2 DNA damage checkpoint (GO:0007095)|neuromuscular process controlling balance (GO:0050885)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|telomere maintenance (GO:0000723) Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nuclear inclusion body (GO:0042405)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|replication fork (GO:0005657)|site of double-strand break (GO:0035861) damaged DNA binding (GO:0003684)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134) autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(11;0.0344) CTCACCCAAtttctgttccct 0.398 NA Homologous recombination T||| 1679 0.335264 0.2965 0.3184 5008 , , NA 21670 0.4206 NA 0.2962 False NA ,,, NA NA NA 2504 0.3517 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF058696 CCDS6249.1 8q21-q24 2014-09-17 2005-06-02 2005-06-02 ENSG00000104320 ENSG00000104320 4683 7652 protein-coding gene gene with protein product 602667 Nijmegen breakage syndrome 1 (nibrin) NBS, NBS1 NA 9590181, 9590180 Standard NM_001024688 XM_005250923 NA Approved ATV, AT-V2, AT-V1 uc003yej.1 O60934 OTTHUMG00000153546 ENST00000265433.3:c.*1209A>C chr8.hg19:g.90946601T>G NA B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2 hg19 CCDS6249.1 0.02 7.420128 AATxTCT COVERED NOVEL NBN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000331583.3 3 12.335424 KEEP 0 0 0 41 1297 TT 1 1 0 - 8 60 307 0 0 20.88565 145 60 5147 242 ENST00000265433.3 0.052288 1 NBN 4683 __UNKNOWN__ __UNKNOWN__ 8 90947537 90947537 __UNKNOWN__ 3'UTR SNP C C T rs1063053 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:90947537C>T ENST00000265433.3 - 0 2692 NBN_ENST00000409330.1_3'UTR NM_002485.4 NP_002476.2 O60934 NBN_HUMAN nibrin NA NA blastocyst growth (GO:0001832)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|DNA damage checkpoint (GO:0000077)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intrinsic apoptotic signaling pathway (GO:0097193)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G2 DNA damage checkpoint (GO:0007095)|neuromuscular process controlling balance (GO:0050885)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|telomere maintenance (GO:0000723) Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nuclear inclusion body (GO:0042405)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|replication fork (GO:0005657)|site of double-strand break (GO:0035861) damaged DNA binding (GO:0003684)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134) autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(11;0.0344) ACCTTACGTACATTTAGAATT 0.308 NA Homologous recombination C||| 1612 0.321885 0.2504 0.3127 5008 , , NA 14008 0.4206 NA 0.2942 False NA ,,, NA NA NA 2504 0.3517 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF058696 CCDS6249.1 8q21-q24 2014-09-17 2005-06-02 2005-06-02 ENSG00000104320 ENSG00000104320 4683 7652 protein-coding gene gene with protein product 602667 Nijmegen breakage syndrome 1 (nibrin) NBS, NBS1 NA 9590181, 9590180 Standard NM_001024688 XM_005250923 NA Approved ATV, AT-V2, AT-V1 uc003yej.1 O60934 OTTHUMG00000153546 ENST00000265433.3:c.*273G>A chr8.hg19:g.90947537C>T NA B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2 hg19 CCDS6249.1 0.02 4.094967 GTAxATT COVERED NOVEL NBN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000331583.3 1 11.738791 KEEP 0 0 0 39 1419 CC 1 1 0 - 8 60 296 0 0 19.954151 138 60 5196 234 ENST00000265433.3 0.054795 1 TMEM64 169200 __UNKNOWN__ __UNKNOWN__ 8 91637286 91637286 __UNKNOWN__ 3'UTR SNP T T A rs117973485 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:91637286T>A ENST00000458549.2 - 0 1933 TMEM64_ENST00000418210.2_3'UTR NM_001008495.3 NP_001008495.2 Q6YI46 TMM64_HUMAN transmembrane protein 64 NA NA cytosolic calcium ion homeostasis (GO:0051480)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|regulation of ATPase activity (GO:0043462) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) endometrium(1)|large_intestine(1) 2 BRCA - Breast invasive adenocarcinoma(11;0.0598) TCCCACAAGGTAGGATTTAAG 0.338 NA T||| 53 0.0105831 0.0 0.0 5008 , , NA 16903 0.0516 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL834364 CCDS34920.2, CCDS55260.1 8q21.3 2005-08-09 ENSG00000180694 ENSG00000180694 169200 25441 protein-coding gene gene with protein product NA Standard NM_001008495 NM_001008495 NA Approved DKFZp762C1112 uc003yen.2 Q6YI46 OTTHUMG00000157185 ENST00000458549.2:c.*613A>T chr8.hg19:g.91637286T>A NA B4DUC0|F5GXM4|Q2HIZ7|Q8N3G6 hg19 CCDS34920.2 0.02 8.378169 AGGxAGG COVERED NOVEL TMEM64-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347825.1 1 15.341801 KEEP 0 0 0 51 1557 TT 1 1 0 - 12 60 404 0 0 25.648468 236 60 8217 361 ENST00000458549.2 0.048387 1 OTUD6B 51633 __UNKNOWN__ __UNKNOWN__ 8 92083424 92083424 __UNKNOWN__ Silent SNP A A G rs11557571 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:92083424A>G ENST00000285420.4 + 2 330 c.231A>G c.(229-231)caA>caG p.Q77Q OTUD6B_ENST00000404789.3_5'UTR NM_016023.3 NP_057107.3 Q8N6M0 OTU6B_HUMAN OTU domain containing 6B 47 NA cysteine-type peptidase activity (GO:0008234) endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2) 11 BRCA - Breast invasive adenocarcinoma(11;0.0187) GGAGGAAGCAACTCACCGAAG 0.418 NA A||| 2435 0.486222 0.2262 0.4049 5008 , , NA 17805 0.5833 NA 0.5974 False NA ,,, NA NA NA 2504 0.681 NA NA NA NA 0 A 1303,3103 440.0+/-345.9 207,889,1107 124 117 120 231 -3.8 0.7 8 dbSNP_120 120 5144,3456 635.7+/-399.0 1530,2084,686 no coding-synonymous OTUD6B NM_016023.3 1737,2973,1793 GG,GA,AA 40.186,29.5733,49.5694 77/324 92083424 6447,6559 2203 4300 6503 SO:0001819 synonymous_variant CCDS6253.2, CCDS69513.1 8q21.3 2013-01-21 ENSG00000155100 ENSG00000155100 51633 OTU domain containing 24281 protein-coding gene gene with protein product 612021 NA Standard NM_016023 NM_016023 NA Approved CGI-77, DUBA5 uc003yeu.4 Q8N6M0 OTTHUMG00000150758 ENST00000285420.4:c.231A>G chr8.hg19:g.92083424A>G NA A8K6I1|B4DEY0|Q9NTA4|Q9Y387 hg19 CCDS6253.2 0.02 15.018177 GCAxCTC COVERED NOVEL OTUD6B-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000319968.1 2 37.482188 KEEP 0 2 76 151 4804 AA 1 1 0 + 15 60 562 0 0 35.999574 361 60 13054 699 ENST00000285420.4 0.039894 1 OTUD6B 51633 __UNKNOWN__ __UNKNOWN__ 8 92090573 92090573 __UNKNOWN__ Intron SNP G G C rs11786324 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:92090573G>C ENST00000285420.4 + 4 504 OTUD6B_ENST00000404789.3_Intron NM_016023.3 NP_057107.3 Q8N6M0 OTU6B_HUMAN OTU domain containing 6B NA NA cysteine-type peptidase activity (GO:0008234) endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2) 11 BRCA - Breast invasive adenocarcinoma(11;0.0187) CATGCATTCTGCTTTTCTTAG 0.363 NA C||| 3150 0.628994 0.6868 0.4597 5008 , , NA 20024 0.626 NA 0.6163 False NA ,,, NA NA NA 2504 0.6871 NA NA NA NA 0 C 2887,1457 995,897,280 17 18 18 2 0 8 dbSNP_120 18 5401,3155 1711,1979,588 no intron OTUD6B NM_016023.3 2706,2876,868 CC,CG,GG 36.8747,33.5405,35.7519 92090573 8288,4612 2172 4278 6450 SO:0001627 intron_variant CCDS6253.2, CCDS69513.1 8q21.3 2013-01-21 ENSG00000155100 ENSG00000155100 51633 OTU domain containing 24281 protein-coding gene gene with protein product 612021 NA Standard NM_016023 NM_016023 NA Approved CGI-77, DUBA5 uc003yeu.4 Q8N6M0 OTTHUMG00000150758 ENST00000285420.4:c.406-11G>C chr8.hg19:g.92090573G>C NA A8K6I1|B4DEY0|Q9NTA4|Q9Y387 hg19 CCDS6253.2 0.02 8.61833 TCTxCTT COVERED NOVEL OTUD6B-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000319968.1 3 14.747783 KEEP 0 0 0 49 1735 GG 1 1 0 + 11 60 405 0 0 27.038484 198 60 7536 303 ENST00000285420.4 0.052632 1 TRIQK 286144 __UNKNOWN__ __UNKNOWN__ 8 93898293 93898293 __UNKNOWN__ 3'UTR SNP G G A rs528627423 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:93898293G>A ENST00000521988.1 - 0 1136 TRIQK_ENST00000378861.5_3'UTR|CTD-3239E11.2_ENST00000521203.1_RNA|TRIQK_ENST00000517540.1_5'UTR|TRIQK_ENST00000520430.1_3'UTR|CTD-3239E11.2_ENST00000523197.1_RNA|TRIQK_ENST00000523580.1_3'UTR|TRIQK_ENST00000518748.1_3'UTR|TRIQK_ENST00000517858.1_3'UTR|TRIQK_ENST00000520686.1_3'UTR|TRIQK_ENST00000537541.1_3'UTR NM_001171797.1 NP_001165268.1 Q629K1 TRIQK_HUMAN triple QxxK/R motif containing NA NA endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) endometrium(3) 3 TTCTGATGCAGCACATGTGCA 0.398 NA G||| 1 0.000199681 0.0 0.0 5008 , , NA 17149 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK096398, BC110326, BC031029, BC065838 CCDS55261.1 8q22.1 2012-04-18 2012-04-18 2012-04-18 ENSG00000205133 ENSG00000205133 286144 27828 protein-coding gene gene with protein product chromosome 8 open reading frame 83 C8orf83 NA 18828657 Standard NM_001171795 NM_001171796 NA Approved DKFZp779L1068, PRO0845, LOC286144 uc022aya.1 Q629K1 OTTHUMG00000164162 ENST00000521988.1:c.*557C>T chr8.hg19:g.93898293G>A NA hg19 CCDS55261.1 0.02 4.094704 GCAxCAC COVERED NOVEL TRIQK-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000377523.3 2 9.028824 KEEP 0 0 0 30 1073 GG 0.999997 0.999997 0 - 9 60 330 0 0 22.6215 137 60 5115 209 ENST00000521988.1 0.061644 1 TMEM67 91147 __UNKNOWN__ __UNKNOWN__ 8 94822191 94822191 __UNKNOWN__ Intron SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:94822191C>T ENST00000453321.3 + 26 2822 TMEM67_ENST00000409623.3_Intron NM_153704.5 NP_714915.3 Q5HYA8 MKS3_HUMAN transmembrane protein 67 NA NA cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of centrosome duplication (GO:0010826) centrosome (GO:0005813)|ciliary membrane (GO:0060170)|cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038) filamin binding (GO:0031005)|unfolded protein binding (GO:0051082) breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1) 41 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.00896) AGATAtttttctttttttctt 0.388 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BX648768 CCDS6258.2, CCDS47893.1 8q22.1 2014-09-17 ENSG00000164953 ENSG00000164953 91147 28396 protein-coding gene gene with protein product Meckelin 609884 Meckel syndrome, type 3 MKS3 NA 12384791, 16415887, 19508969 Standard NM_153704 NM_153704 NA Approved MGC26979, JBTS6, NPHP11 uc011lgk.2 Q5HYA8 OTTHUMG00000153119 ENST00000453321.3:c.2764+76C>T chr8.hg19:g.94822191C>T NA B3KRU5|B3KT47|G5E9H2|Q3ZCX3|Q7Z5T8|Q8IZ06 hg19 CCDS6258.2 0.02 1.443383 TTTxTTT COVERED NOVEL TMEM67-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000329641.2 0 3.409337 KEEP 0 2 11 16 443 CC 0.999859 0.970684 0 + 16 60 186 2 0 12.036774 36 60 1143 75 ENST00000453321.3 0.307692 0.97082 CDH17 1015 __UNKNOWN__ __UNKNOWN__ 8 95160958 95160958 __UNKNOWN__ Intron SNP T T G rs76453018 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:95160958T>G ENST00000027335.3 - 14 2052 CDH17_ENST00000441892.2_Intron|CDH17_ENST00000450165.2_Intron NM_004063.3 NP_004054.3 Q12864 CAD17_HUMAN cadherin 17, LI cadherin (liver-intestine) NA NA calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810) basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021) calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215) NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2) 52 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) tgttttttttttttttttGCT 0.418 NA T||| 692 0.138179 0.0507 0.232 5008 , , NA 13337 0.1587 NA 0.1143 False NA ,,, NA NA NA 2504 0.1933 NA NA NA NA 0 15 16 16 NA NA 8 NA 95160958 2192 4272 6464 SO:0001627 intron_variant X83228 CCDS6260.1 8q22.1 2010-01-26 ENSG00000079112 ENSG00000079112 1015 Cadherins / Major cadherins 1756 protein-coding gene gene with protein product 603017 NA 9615235, 10191097 Standard NM_004063 NM_004063 NA Approved HPT-1, cadherin uc003ygh.2 Q12864 OTTHUMG00000164391 ENST00000027335.3:c.1927+13A>C chr8.hg19:g.95160958T>G NA Q15336|Q2M2E0 hg19 CCDS6260.1 0.02 4.652 TTTxTTT COVERED NOVEL CDH17-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000378560.1 3 10.229997 KEEP 0 0 0 34 1037 TT 0.999998 0.999998 0 - 5 60 196 1 0 14.296737 61 60 2214 189 ENST00000027335.3 0.075758 1 RAD54B 25788 __UNKNOWN__ __UNKNOWN__ 8 95419698 95419698 __UNKNOWN__ Silent SNP A A G rs2291439 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:95419698A>G ENST00000336148.5 - 5 874 c.750T>C c.(748-750)aaT>aaC p.N250N NM_012415.3 NP_036547.1 Q9Y620 RA54B_HUMAN RAD54 homolog B (S. cerevisiae) 250 NA ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131) nucleus (GO:0005634) ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Breast(36;4.5e-05) BRCA - Breast invasive adenocarcinoma(8;0.00217) GTGGTTTGCAATTTTGGAAAT 0.328 NA Direct reversal of damage;Homologous recombination A||| 2094 0.418131 0.3517 0.536 5008 , , NA 18131 0.4663 NA 0.3777 False NA ,,, NA NA NA 2504 0.4162 NA NA NA NA 0 A , 1557,2849 487.4+/-360.9 261,1035,907 76 74 75 198,750 2.7 0.6 8 dbSNP_100 75 3140,5460 476.8+/-369.5 549,2042,1709 yes coding-synonymous,coding-synonymous RAD54B NM_001205263.1,NM_012415.3 , 810,3077,2616 GG,GA,AA 36.5116,35.3382,36.1141 , 66/727,250/911 95419698 4697,8309 2203 4300 6503 SO:0001819 synonymous_variant AF112481 CCDS6262.1, CCDS56546.1, CCDS75768.1 8q22.1 2014-08-08 ENSG00000197275 ENSG00000197275 25788 17228 protein-coding gene gene with protein product 604289 NA 10362364, 10851248 Standard NM_012415 NM_012415 NA Approved RDH54 uc003ygk.3 Q9Y620 OTTHUMG00000133658 ENST00000336148.5:c.750T>C chr8.hg19:g.95419698A>G NA F6WBS8 hg19 CCDS6262.1 0.02 8.303634 GCAxTTT COVERED NOVEL RAD54B-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257806.3 0 9.930585 KEEP 0 0 0 33 1070 AA 0.999998 0.999998 0 - 10 60 340 0 0 20.827359 235 60 8345 319 ENST00000336148.5 0.040816 1 RAD54B 25788 __UNKNOWN__ __UNKNOWN__ 8 95479879 95479879 __UNKNOWN__ Intron SNP A A G rs3099398 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:95479879A>G ENST00000336148.5 - 2 109 RAD54B_ENST00000297592.5_Intron NM_012415.3 NP_036547.1 Q9Y620 RA54B_HUMAN RAD54 homolog B (S. cerevisiae) NA NA ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131) nucleus (GO:0005634) ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Breast(36;4.5e-05) BRCA - Breast invasive adenocarcinoma(8;0.00217) gatggaacagaaacccctctt 0.408 NA Direct reversal of damage;Homologous recombination G||| 3287 0.65635 0.8018 0.6225 5008 , , NA 18795 0.8036 NA 0.4245 False NA ,,, NA NA NA 2504 0.5706 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF112481 CCDS6262.1, CCDS56546.1, CCDS75768.1 8q22.1 2014-08-08 ENSG00000197275 ENSG00000197275 25788 17228 protein-coding gene gene with protein product 604289 NA 10362364, 10851248 Standard NM_012415 NM_012415 NA Approved RDH54 uc003ygk.3 Q9Y620 OTTHUMG00000133658 ENST00000336148.5:c.16-96T>C chr8.hg19:g.95479879A>G NA F6WBS8 hg19 CCDS6262.1 0.02 11.320457 CAGxAAC COVERED NOVEL RAD54B-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257806.3 3 4.845946 KEEP 0 1 34 28 804 AA 0.999997 0.999997 0 - 17 60 629 0 0 43.019652 269 60 9364 336 ENST00000336148.5 0.059441 1 ESRP1 54845 __UNKNOWN__ __UNKNOWN__ 8 95680229 95680229 __UNKNOWN__ Silent SNP C C T rs1549466 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:95680229C>T ENST00000433389.2 + 10 1174 c.984C>T c.(982-984)gtC>gtT p.V328V ESRP1_ENST00000358397.5_Silent_p.V328V|ESRP1_ENST00000454170.2_Silent_p.V328V|ESRP1_ENST00000423620.2_Silent_p.V328V NM_001034915.2|NM_017697.3 NP_001030087.2|NP_060167.2 Q6NXG1 ESRP1_HUMAN epithelial splicing regulatory protein 1 328 RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}. NA mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380) nucleus (GO:0005634) mRNA binding (GO:0003729)|nucleotide binding (GO:0000166) ESRP1/RAF1(4) NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2) 20 AAGTCATTGTCCGCATGCGGG 0.483 NA C||| 1765 0.352436 0.0514 0.3804 5008 , , NA 19140 0.5387 NA 0.3897 False NA ,,, NA NA NA 2504 0.5092 NA NA NA NA 0 C ,,,, 393,3341 21,351,1495 61 60 60 984,984,984,984,984 -0.6 1 8 dbSNP_88 60 3101,5085 579,1943,1571 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous ESRP1 NM_001034915.2,NM_001122825.1,NM_001122826.1,NM_001122827.1,NM_017697.3 ,,,, 600,2294,3066 TT,TC,CC 37.8817,10.5249,29.3121 ,,,, 328/678,328/609,328/660,328/605,328/682 95680229 3494,8426 1867 4093 5960 SO:0001819 synonymous_variant AK000178 CCDS47895.1, CCDS47896.1, CCDS47897.1, CCDS47898.1 8q22.1 2013-02-12 2009-03-10 2009-03-10 ENSG00000104413 ENSG00000104413 54845 RNA binding motif (RRM) containing 25966 protein-coding gene gene with protein product 612959 RNA binding motif protein 35A RBM35A NA 12477932 Standard NM_017697 NM_017697 NA Approved FLJ20171 uc003ygq.4 Q6NXG1 OTTHUMG00000164587 ENST00000433389.2:c.984C>T chr8.hg19:g.95680229C>T NA A6NHA8|A8MPX1|E9PB47|Q2M2B0|Q499G3|Q6PJ86|Q9NXL8 hg19 CCDS47897.1 0.02 8.143512 TGTxCGC COVERED 780 0.35714285714285715 28 0.056910569105691054 135 0.3729281767955801 307 0.5367132867132867 310 0.40897097625329815 C 9.611 1.131193 0.21041 0.105249 0.378817 ENSG00000104413 ENST00000519505 . . . 5.78 -0.637 0.11504 . . . . . T 0.00012 0.0000 . . . 0.09310 P 1.0 . . . . . . T 0.47761 -0.9092 3 . . . -9.6706 9.8714 0.41177 0.0:0.28:0.5332:0.1868 rs1549466;rs17717111;rs1549466 . . . S 194 . . P + 1 0 ESRP1 95749405 0.112000 0.22096 0.981000 0.43875 0.994000 0.84299 -0.523000 0.06230 -0.440000 0.07211 -0.302000 0.09304 CCG NOVEL ESRP1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000379326.1 0 5.417869 KEEP 0 0 0 18 655 CC 0.999859 0.999859 0 + 8 60 288 0 0 17.573908 220 60 8223 304 ENST00000433389.2 0.035088 1 UQCRB 7381 __UNKNOWN__ __UNKNOWN__ 8 97241108 97241108 __UNKNOWN__ 3'UTR SNP A A T rs142703196 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:97241108A>T ENST00000287022.5 - 0 2614 NM_001199975.2|NM_006294.4 NP_001186904.1|NP_006285.1 P14927 QCR7_HUMAN ubiquinol-cytochrome c reductase binding protein NA NA aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|oxidation-reduction process (GO:0055114)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281) mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex III (GO:0005750) kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 10 Breast(36;5.16e-05) GGTCTACAGGACAATGCAGAG 0.448 NA A||| 49 0.00978435 0.0 0.0 5008 , , NA 21474 0.0486 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X13585 CCDS6269.1, CCDS59107.1 8q22 2011-07-04 ENSG00000156467 ENSG00000156467 7381 Mitochondrial respiratory chain complex / Complex III 12582 protein-coding gene gene with protein product ubiquinol-cytochrome c reductase, complex III subunit VI, cytochrome b-c1 complex subunit 7 191330 UQBP NA 2167087, 2543413, 3056408 Standard NM_006294 NM_006294 NA Approved QP-C, QCR7, UQCR6 uc022ayx.1 P14927 OTTHUMG00000164711 ENST00000287022.5:c.*2175T>A chr8.hg19:g.97241108A>T NA E5RJU0|Q6FGD1 hg19 CCDS6269.1 0.02 1.845563 AGGxCAA COVERED NOVEL UQCRB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000379863.1 1 8.726303 KEEP 0 0 0 29 931 AA 0.999997 0.999927 0 - 7 60 254 0 0 17.856098 89 60 3195 153 ENST00000287022.5 0.072917 0.99993 PTDSS1 9791 __UNKNOWN__ __UNKNOWN__ 8 97342536 97342536 __UNKNOWN__ Intron SNP A A G rs2280263 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:97342536A>G ENST00000517309.1 + 11 1568 PTDSS1_ENST00000522072.1_Intron|PTDSS1_ENST00000455950.2_Intron NM_014754.1 NP_055569.1 P48651 PTSS1_HUMAN phosphatidylserine synthase 1 NA NA glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020) transferase activity (GO:0016740) endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1) 29 Breast(36;6.18e-05) Phosphatidylserine(DB00144) AGGCATGGCCATTGTTTAAAA 0.517 NA A||| 2238 0.446885 0.233 0.4813 5008 , , NA 16959 0.6121 NA 0.4712 False NA ,,, NA NA NA 2504 0.5164 NA NA NA NA 0 A 1142,3264 405.3+/-333.4 139,864,1200 77 65 69 -1.5 0 8 dbSNP_100 69 4160,4440 565.1+/-388.4 996,2168,1136 no intron PTDSS1 NM_014754.1 1135,3032,2336 GG,GA,AA 48.3721,25.9192,40.7658 97342536 5302,7704 2203 4300 6503 SO:0001627 intron_variant D14694 CCDS6271.1 8q22 2008-05-02 ENSG00000156471 ENSG00000156471 9791 9587 protein-coding gene gene with protein product 612792 NA Standard NM_014754 NA Approved KIAA0024, PSSA, PSS1 uc003yht.1 P48651 OTTHUMG00000164687 ENST00000517309.1:c.1242+27A>G chr8.hg19:g.97342536A>G NA E5RFC5|Q9BUQ5 hg19 CCDS6271.1 0.02 10.851114 GCCxTTG COVERED NOVEL PTDSS1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000379743.2 1 15.036781 KEEP 0 0 0 50 1426 AA 1 1 0 + 16 60 593 0 0 39.934198 279 60 10031 386 ENST00000517309.1 0.054237 1 PTDSS1 9791 __UNKNOWN__ __UNKNOWN__ 8 97346990 97346990 __UNKNOWN__ 3'UTR SNP T T A rs34646355 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:97346990T>A ENST00000517309.1 + 0 2944 NM_014754.1 NP_055569.1 P48651 PTSS1_HUMAN phosphatidylserine synthase 1 NA NA glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020) transferase activity (GO:0016740) endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1) 29 Breast(36;6.18e-05) Phosphatidylserine(DB00144) ATGAACAACATAGTCATTGTT 0.363 NA T||| 2070 0.413339 0.1309 0.4524 5008 , , NA 18965 0.6042 NA 0.4483 False NA ,,, NA NA NA 2504 0.5348 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D14694 CCDS6271.1 8q22 2008-05-02 ENSG00000156471 ENSG00000156471 9791 9587 protein-coding gene gene with protein product 612792 NA Standard NM_014754 NA Approved KIAA0024, PSSA, PSS1 uc003yht.1 P48651 OTTHUMG00000164687 ENST00000517309.1:c.*1196T>A chr8.hg19:g.97346990T>A NA E5RFC5|Q9BUQ5 hg19 CCDS6271.1 0.02 6.705552 ACAxAGT COVERED NOVEL PTDSS1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000379743.2 1 12.035574 KEEP 0 0 0 40 1223 TT 1 1 0 + 10 60 367 0 0 24.51252 179 60 6461 269 ENST00000517309.1 0.05291 1 PTDSS1 9791 __UNKNOWN__ __UNKNOWN__ 8 97347625 97347625 __UNKNOWN__ 3'UTR SNP G G A rs4734340 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:97347625G>A ENST00000517309.1 + 0 3579 NM_014754.1 NP_055569.1 P48651 PTSS1_HUMAN phosphatidylserine synthase 1 NA NA glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020) transferase activity (GO:0016740) endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1) 29 Breast(36;6.18e-05) Phosphatidylserine(DB00144) TTCTCACACCGGTGGTGCCTC 0.463 NA a||| 2041 0.407548 0.087 0.4611 5008 , , NA 20136 0.6141 NA 0.4612 False NA ,,, NA NA NA 2504 0.5348 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D14694 CCDS6271.1 8q22 2008-05-02 ENSG00000156471 ENSG00000156471 9791 9587 protein-coding gene gene with protein product 612792 NA Standard NM_014754 NA Approved KIAA0024, PSSA, PSS1 uc003yht.1 P48651 OTTHUMG00000164687 ENST00000517309.1:c.*1831G>A chr8.hg19:g.97347625G>A NA E5RFC5|Q9BUQ5 hg19 CCDS6271.1 0.02 10.977781 ACCxGTG COVERED NOVEL PTDSS1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000379743.2 5 25.280049 KEEP 0 0 0 84 2907 GG 1 1 0 + 10 60 350 0 0 21.13586 281 60 9581 455 ENST00000517309.1 0.034364 1 PTDSS1 9791 __UNKNOWN__ __UNKNOWN__ 8 97347637 97347637 __UNKNOWN__ 3'UTR SNP C C T rs1400914 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:97347637C>T ENST00000517309.1 + 0 3591 NM_014754.1 NP_055569.1 P48651 PTSS1_HUMAN phosphatidylserine synthase 1 NA NA glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020) transferase activity (GO:0016740) endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1) 29 Breast(36;6.18e-05) Phosphatidylserine(DB00144) TGGTGCCTCACTGAGTGTTTC 0.483 NA C||| 2224 0.444089 0.1967 0.4914 5008 , , NA 19487 0.6101 NA 0.4801 False NA ,,, NA NA NA 2504 0.5368 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D14694 CCDS6271.1 8q22 2008-05-02 ENSG00000156471 ENSG00000156471 9791 9587 protein-coding gene gene with protein product 612792 NA Standard NM_014754 NA Approved KIAA0024, PSSA, PSS1 uc003yht.1 P48651 OTTHUMG00000164687 ENST00000517309.1:c.*1843C>T chr8.hg19:g.97347637C>T NA E5RFC5|Q9BUQ5 hg19 CCDS6271.1 0.02 12.571023 TCAxTGA COVERED NOVEL PTDSS1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000379743.2 6 27.691085 KEEP 0 0 0 92 3360 CC 1 1 0 + 9 60 329 0 0 19.608986 294 60 11171 495 ENST00000517309.1 0.029703 1 SDC2 6383 __UNKNOWN__ __UNKNOWN__ 8 97620553 97620553 __UNKNOWN__ Intron SNP C C G rs2278608 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:97620553C>G ENST00000519914.1 + 4 466 SDC2_ENST00000518385.1_Intron|SDC2_ENST00000302190.4_Intron|SDC2_ENST00000522911.1_Intron P34741 SDC2_HUMAN syndecan 2 NA NA carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dendrite morphogenesis (GO:0048813)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|regulation of dendrite morphogenesis (GO:0048814)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060) Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886) PDZ domain binding (GO:0030165) breast(1)|cervix(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|stomach(2) 16 Breast(36;3.41e-05) Sargramostim(DB00020) TTCCCTGTTTCCCATACCAGT 0.358 NA C||| 152 0.0303514 0.0 0.0317 5008 , , NA 19772 0.127 NA 0.0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 C 9,4397 15.5+/-35.6 0,9,2194 61 59 60 1.4 0 8 dbSNP_100 60 14,8586 10.5+/-38.8 0,14,4286 no intron SDC2 NM_002998.3 0,23,6480 GG,GC,CC 0.1628,0.2043,0.1768 97620553 23,12983 2203 4300 6503 SO:0001627 intron_variant BC030133 CCDS6272.1 8q22-q23 2011-08-11 2007-02-15 ENSG00000169439 ENSG00000169439 6383 Proteoglycans / Cell Surface : Syndecans, CD molecules 10659 protein-coding gene gene with protein product syndecan proteoglycan 2 142460 heparan sulfate proteoglycan 1, cell surface-associated HSPG, HSPG1 NA 8187643 Standard NM_002998 NM_002998 NA Approved fibroglycan, SYND2, CD362 uc003yhv.1 P34741 OTTHUMG00000164689 ENST00000519914.1:c.220-10C>G chr8.hg19:g.97620553C>G NA B3KQA3|Q6PIS6|Q9H6V1 hg19 0.02 6.625703 TTTxCCA COVERED NOVEL SDC2-003 PUTATIVE alternative_5_UTR|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000379754.1 3 17.454715 KEEP 0 0 0 58 1982 CC 1 1 0 + 6 60 230 0 0 14.190536 192 60 7154 314 ENST00000519914.1 0.030303 1 MATN2 4147 __UNKNOWN__ __UNKNOWN__ 8 98943545 98943545 __UNKNOWN__ Silent SNP A A G rs2290471 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:98943545A>G ENST00000521689.1 + 3 981 c.507A>G c.(505-507)acA>acG p.T169T MATN2_ENST00000522025.2_Intron|MATN2_ENST00000524308.1_Silent_p.T169T|MATN2_ENST00000254898.5_Silent_p.T169T|MATN2_ENST00000520016.1_Silent_p.T169T O00339 MATN2_HUMAN matrilin 2 169 VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}. NA proteinaceous extracellular matrix (GO:0005578) calcium ion binding (GO:0005509) breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1) 31 Breast(36;1.43e-06) OV - Ovarian serous cystadenocarcinoma(57;0.244) TGATCGTGACAGATGGGAGAC 0.592 NA G||| 1390 0.277556 0.5023 0.2565 5008 , , NA 21133 0.0804 NA 0.2883 False NA ,,, NA NA NA 2504 0.181 NA NA NA NA 0 G , 1825,2387 422,981,703 38 44 42 507,507 -11.6 0 8 dbSNP_100 42 2405,6067 366,1673,2197 no coding-synonymous,coding-synonymous MATN2 NM_002380.3,NM_030583.2 , 788,2654,2900 GG,GA,AA 28.3876,43.3286,33.3491 , 169/957,169/938 98943545 4230,8454 2106 4236 6342 SO:0001819 synonymous_variant U69263 CCDS55264.1, CCDS55265.1 8q22.1-q22.2 2008-05-15 4147 6908 protein-coding gene gene with protein product 602108 NA 9083061, 11852232 Standard XM_005250920 NA Approved uc003yic.3 O00339 ENST00000521689.1:c.507A>G chr8.hg19:g.98943545A>G NA A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1 hg19 CCDS55265.1 0.02 10.14317 GACxGAT COVERED NOVEL MATN2-001 KNOWN non_canonical_conserved|basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000380327.1 2 39.115452 KEEP 0 0 0 130 4050 AA 1 1 0 + 9 60 316 0 0 18.893553 253 60 9392 485 ENST00000521689.1 0.034351 1 POP1 10940 __UNKNOWN__ __UNKNOWN__ 8 99162913 99162913 __UNKNOWN__ Intron SNP G G A rs117915472 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:99162913G>A ENST00000401707.2 + 14 2138 POP1_ENST00000349693.3_Intron NM_001145860.1|NM_001145861.1 NP_001139332.1|NP_001139333.1 Q99575 POP1_HUMAN processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) NA NA RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA 5'-leader removal (GO:0001682)|tRNA catabolic process (GO:0016078) extracellular space (GO:0005615)|nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172) poly(A) RNA binding (GO:0044822)|ribonuclease MRP activity (GO:0000171)|ribonuclease P activity (GO:0004526) autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Breast(36;1.78e-06) OV - Ovarian serous cystadenocarcinoma(57;0.145) AAGGAAAAGAGAAGTGCCTGC 0.358 NA G||| 51 0.0101837 0.0 0.0 5008 , , NA 18290 0.0188 NA 0.0 False NA ,,, NA NA NA 2504 0.0327 NA NA NA NA 0 G ,, 2,4404 2.1+/-5.4 0,2,2201 34 36 35 ,, 4.2 0.1 8 dbSNP_132 35 0,8600 0,0,4300 no intron,intron,intron POP1 NM_001145860.1,NM_001145861.1,NM_015029.2 ,, 0,2,6501 AA,AG,GG 0.0,0.0454,0.0154 ,, ,, 99162913 2,13004 2203 4300 6503 SO:0001627 intron_variant D31765 CCDS6277.1 8q22.2 2012-05-21 ENSG00000104356 ENSG00000104356 10940 30129 protein-coding gene gene with protein product processing of precursors 1 602486 NA 10199568, 8918471 Standard NM_015029 NM_015029 NA Approved uc011lgv.2 Q99575 OTTHUMG00000164635 ENST00000401707.2:c.2057+46G>A chr8.hg19:g.99162913G>A NA A8K5W9|Q15037 hg19 CCDS6277.1 0.02 3.974277 AGAxAAG COVERED NOVEL POP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000379470.1 1 8.426197 KEEP 0 0 0 28 927 GG 0.999997 0.999997 0 + 6 60 208 0 0 12.971403 131 60 4905 188 ENST00000401707.2 0.043796 1 POP1 10940 __UNKNOWN__ __UNKNOWN__ 8 99168383 99168383 __UNKNOWN__ Silent SNP T T C rs16896695 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:99168383T>C ENST00000401707.2 + 15 2244 c.2163T>C c.(2161-2163)gcT>gcC p.A721A POP1_ENST00000349693.3_Silent_p.A721A NM_001145860.1|NM_001145861.1 NP_001139332.1|NP_001139333.1 Q99575 POP1_HUMAN processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) 721 NA RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA 5'-leader removal (GO:0001682)|tRNA catabolic process (GO:0016078) extracellular space (GO:0005615)|nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172) poly(A) RNA binding (GO:0044822)|ribonuclease MRP activity (GO:0000171)|ribonuclease P activity (GO:0004526) autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Breast(36;1.78e-06) OV - Ovarian serous cystadenocarcinoma(57;0.145) GAGTCCAGGCTTACGAAGAAC 0.498 NA C||| 369 0.0736821 0.1286 0.0317 5008 , , NA 17137 0.0208 NA 0.0388 False NA ,,, NA NA NA 2504 0.1196 NA NA NA NA 0 C ,, 574,3832 773.0+/-413.9 40,494,1669 110 101 104 2163,2163,2163 2.4 0 8 dbSNP_123 104 370,8230 802.7+/-407.3 11,348,3941 no coding-synonymous,coding-synonymous,coding-synonymous POP1 NM_001145860.1,NM_001145861.1,NM_015029.2 ,, 51,842,5610 CC,CT,TT 4.3023,13.0277,7.2582 ,, 721/1025,721/1025,721/1025 99168383 944,12062 2203 4300 6503 SO:0001819 synonymous_variant D31765 CCDS6277.1 8q22.2 2012-05-21 ENSG00000104356 ENSG00000104356 10940 30129 protein-coding gene gene with protein product processing of precursors 1 602486 NA 10199568, 8918471 Standard NM_015029 NM_015029 NA Approved uc011lgv.2 Q99575 OTTHUMG00000164635 ENST00000401707.2:c.2163T>C chr8.hg19:g.99168383T>C NA A8K5W9|Q15037 hg19 CCDS6277.1 0.02 2.036455 GGCxTAC COVERED NOVEL POP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000379470.1 0 9.930317 KEEP 0 0 0 33 1061 TT 0.999998 0.999937 0 + 5 60 187 0 0 12.534663 92 60 3413 166 ENST00000401707.2 0.051546 0.99994 POP1 10940 __UNKNOWN__ __UNKNOWN__ 8 99170875 99170875 __UNKNOWN__ 3'UTR SNP A A C rs10104260 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:99170875A>C ENST00000401707.2 + 0 3532 NM_001145860.1|NM_001145861.1 NP_001139332.1|NP_001139333.1 Q99575 POP1_HUMAN processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) NA NA RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA 5'-leader removal (GO:0001682)|tRNA catabolic process (GO:0016078) extracellular space (GO:0005615)|nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172) poly(A) RNA binding (GO:0044822)|ribonuclease MRP activity (GO:0000171)|ribonuclease P activity (GO:0004526) autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Breast(36;1.78e-06) OV - Ovarian serous cystadenocarcinoma(57;0.145) AAGCAACAATAGATGTTTAAT 0.383 NA A||| 169 0.033746 0.0772 0.0014 5008 , , NA 19260 0.0208 NA 0.0 False NA ,,, NA NA NA 2504 0.046 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D31765 CCDS6277.1 8q22.2 2012-05-21 ENSG00000104356 ENSG00000104356 10940 30129 protein-coding gene gene with protein product processing of precursors 1 602486 NA 10199568, 8918471 Standard NM_015029 NM_015029 NA Approved uc011lgv.2 Q99575 OTTHUMG00000164635 ENST00000401707.2:c.*376A>C chr8.hg19:g.99170875A>C NA A8K5W9|Q15037 hg19 CCDS6277.1 0.02 8.699761 AATxGAT COVERED NOVEL POP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000379470.1 1 10.829367 KEEP 0 0 0 36 1088 AA 0.999999 0.999999 0 + 8 60 279 0 0 16.59115 226 60 8316 295 ENST00000401707.2 0.034188 1 POP1 10940 __UNKNOWN__ __UNKNOWN__ 8 99170919 99170919 __UNKNOWN__ 3'UTR SNP C C T rs3735882 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:99170919C>T ENST00000401707.2 + 0 3576 NM_001145860.1|NM_001145861.1 NP_001139332.1|NP_001139333.1 Q99575 POP1_HUMAN processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) NA NA RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA 5'-leader removal (GO:0001682)|tRNA catabolic process (GO:0016078) extracellular space (GO:0005615)|nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172) poly(A) RNA binding (GO:0044822)|ribonuclease MRP activity (GO:0000171)|ribonuclease P activity (GO:0004526) autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Breast(36;1.78e-06) OV - Ovarian serous cystadenocarcinoma(57;0.145) CAAGAGAAGACGCTTGGCCTC 0.398 NA C||| 169 0.033746 0.0772 0.0014 5008 , , NA 18904 0.0208 NA 0.0 False NA ,,, NA NA NA 2504 0.046 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D31765 CCDS6277.1 8q22.2 2012-05-21 ENSG00000104356 ENSG00000104356 10940 30129 protein-coding gene gene with protein product processing of precursors 1 602486 NA 10199568, 8918471 Standard NM_015029 NM_015029 NA Approved uc011lgv.2 Q99575 OTTHUMG00000164635 ENST00000401707.2:c.*420C>T chr8.hg19:g.99170919C>T NA A8K5W9|Q15037 hg19 CCDS6277.1 0.02 8.187974 AGAxGCT COVERED NOVEL POP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000379470.1 1 9.631016 KEEP 0 0 0 32 1105 CC 0.999997 0.999997 0 + 11 60 396 0 0 25.802863 213 60 7334 289 ENST00000401707.2 0.049107 1 POP1 10940 __UNKNOWN__ __UNKNOWN__ 8 99171027 99171027 __UNKNOWN__ 3'UTR SNP A A T rs10104499 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:99171027A>T ENST00000401707.2 + 0 3684 NM_001145860.1|NM_001145861.1 NP_001139332.1|NP_001139333.1 Q99575 POP1_HUMAN processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) NA NA RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA 5'-leader removal (GO:0001682)|tRNA catabolic process (GO:0016078) extracellular space (GO:0005615)|nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172) poly(A) RNA binding (GO:0044822)|ribonuclease MRP activity (GO:0000171)|ribonuclease P activity (GO:0004526) autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Breast(36;1.78e-06) OV - Ovarian serous cystadenocarcinoma(57;0.145) ATCATGGACAACTGATTTCTG 0.453 NA A||| 169 0.033746 0.0772 0.0014 5008 , , NA 17029 0.0208 NA 0.0 False NA ,,, NA NA NA 2504 0.046 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D31765 CCDS6277.1 8q22.2 2012-05-21 ENSG00000104356 ENSG00000104356 10940 30129 protein-coding gene gene with protein product processing of precursors 1 602486 NA 10199568, 8918471 Standard NM_015029 NM_015029 NA Approved uc011lgv.2 Q99575 OTTHUMG00000164635 ENST00000401707.2:c.*528A>T chr8.hg19:g.99171027A>T NA A8K5W9|Q15037 hg19 CCDS6277.1 0.02 6.032958 ACAxCTG COVERED NOVEL POP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000379470.1 1 6.59288 KEEP 0 1 8 25 747 AA 0.999957 0.999957 0 + 6 60 217 0 0 13.594465 146 60 5087 202 ENST00000401707.2 0.039474 1 POP1 10940 __UNKNOWN__ __UNKNOWN__ 8 99171485 99171485 __UNKNOWN__ 3'UTR SNP T T G rs10955152 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:99171485T>G ENST00000401707.2 + 0 4142 NM_001145860.1|NM_001145861.1 NP_001139332.1|NP_001139333.1 Q99575 POP1_HUMAN processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) NA NA RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA 5'-leader removal (GO:0001682)|tRNA catabolic process (GO:0016078) extracellular space (GO:0005615)|nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172) poly(A) RNA binding (GO:0044822)|ribonuclease MRP activity (GO:0000171)|ribonuclease P activity (GO:0004526) autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Breast(36;1.78e-06) OV - Ovarian serous cystadenocarcinoma(57;0.145) gtgttcttagtagcgcgcttt 0.448 NA G||| 169 0.033746 0.0772 0.0014 5008 , , NA 18279 0.0208 NA 0.0 False NA ,,, NA NA NA 2504 0.046 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D31765 CCDS6277.1 8q22.2 2012-05-21 ENSG00000104356 ENSG00000104356 10940 30129 protein-coding gene gene with protein product processing of precursors 1 602486 NA 10199568, 8918471 Standard NM_015029 NM_015029 NA Approved uc011lgv.2 Q99575 OTTHUMG00000164635 ENST00000401707.2:c.*986T>G chr8.hg19:g.99171485T>G NA A8K5W9|Q15037 hg19 CCDS6277.1 0.02 6.79537 TAGxAGC COVERED NOVEL POP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000379470.1 1 9.326728 KEEP 0 0 0 31 940 TT 0.999997 0.999997 0 + 7 60 227 0 0 14.038084 146 60 5171 212 ENST00000401707.2 0.045752 1 VPS13B 157680 __UNKNOWN__ __UNKNOWN__ 8 100188630 100188630 __UNKNOWN__ Intron SNP G G A rs4319053 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:100188630G>A ENST00000358544.2 + 16 2444 VPS13B_ENST00000355155.1_Intron|VPS13B_ENST00000521932.1_Intron|VPS13B_ENST00000395996.1_Intron|VPS13B_ENST00000357162.2_Intron NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) NA NA protein transport (GO:0015031) NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) ctcccaaagtgctgggattac 0.507 NA G||| 1041 0.207867 0.0855 0.353 5008 , , NA 16858 0.4087 NA 0.172 False NA ,,, NA NA NA 2504 0.1002 NA NA NA Colon(161;2205 2542 7338 31318) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ608772 CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1 8q22-q23 2014-09-17 2006-12-19 2005-04-08 ENSG00000132549 ENSG00000132549 157680 2183 protein-coding gene gene with protein product 607817 Cohen syndrome 1 CHS1, COH1 NA 7920642, 15498460 Standard NM_184042 NM_181661 NA Approved uc003yiv.4 Q7Z7G8 OTTHUMG00000140383 ENST00000358544.2:c.2333+6239G>A chr8.hg19:g.100188630G>A NA C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7 hg19 CCDS6280.1 0.02 -0.043867 AGTxCTG UNCOVERED NOVEL VPS13B-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000277138.1 4 2.407919 KEEP 2 0 0 8 294 GG 0 0 0 + 3 60 108 0 0 10.769739 2 60 78 19 ENST00000358544.2 0.6 0.024074 FBXO43 286151 __UNKNOWN__ __UNKNOWN__ 8 101154066 101154066 __UNKNOWN__ Missense_Mutation SNP G G A rs2279102 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:101154066G>A ENST00000428847.2 - 2 732 c.416C>T c.(415-417)cCa>cTa p.P139L NM_001029860.3 NP_001025031.2 Q4G163 FBX43_HUMAN F-box protein 43 139 NA P -> L (in dbSNP:rs2279102).|P -> R (in dbSNP:rs2279102). meiotic nuclear division (GO:0007126)|negative regulation of meiosis (GO:0045835)|negative regulation of protein catabolic process (GO:0042177)|protein ubiquitination (GO:0016567) nucleus (GO:0005634) zinc ion binding (GO:0008270) endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1) 31 all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798) Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957) ACAAAGTTCTGGGGTTTTATC 0.398 NA G||| 426 0.0850639 0.205 0.0346 5008 , , NA 18730 0.0883 NA 0.001 False NA ,,, NA NA NA 2504 0.0419 NA NA NA NA 0 G LEU/PRO 597,3025 41,515,1255 121 111 114 416 4.4 0.8 8 dbSNP_100 114 13,8135 0,13,4061 yes missense FBXO43 NM_001029860.3 98 41,528,5316 AA,AG,GG 0.1595,16.4826,5.1827 possibly-damaging 139/709 101154066 610,11160 1811 4074 5885 SO:0001583 missense BC028709 CCDS47904.1 8q22.3 2004-08-24 ENSG00000156509 ENSG00000156509 286151 F-boxes / other 28521 protein-coding gene gene with protein product 609110 NA Standard XM_209918 NR_036491 NA Approved Fbx43 uc003yjd.3 Q4G163 OTTHUMG00000164803 ENST00000428847.2:c.416C>T chr8.hg19:g.101154066G>A ENSP00000403293:p.Pro139Leu NA hg19 CCDS47904.1 0.02 14.796517 TCTxGGG COVERED 173 0.07921245421245421 104 0.21138211382113822 9 0.024861878453038673 59 0.10314685314685315 1 0.0013192612137203166 G 11.27 1.588953 0.28357 0.164826 0.001595 ENSG00000156509 ENST00000428847 T 0.32272 1.46 5.3 4.41 0.53225 . 0.803470 0.12047 N 0.504465 T 0.00039 0.0001 L 0.56769 1.78 0.28237 P 0.9258693 P;P 0.40731 0.728;0.728 B;B 0.31245 0.126;0.126 T 0.11991 -1.0565 9 0.62326 D 0.03 -5.3876 11.183 0.48640 0.071:0.0:0.8001:0.1289 rs2279102 105;139 C9J908;Q4G163 .;FBX43_HUMAN L 139 ENSP00000403293:P139L ENSP00000403293:P139L P - 2 0 FBXO43 101223242 0.991000 0.36638 0.789000 0.31954 0.219000 0.24729 1.912000 0.39946 2.629000 0.89072 0.563000 0.77884 CCA NOVEL FBXO43-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000380380.1 2 27.991403 KEEP 0 0 0 93 3336 GG 1 1 0 - 15 60 540 1 0 33.963001 352 60 13466 557 ENST00000428847.2 0.040872 1 FBXO43 286151 __UNKNOWN__ __UNKNOWN__ 8 101157227 101157227 __UNKNOWN__ Intron SNP G G A rs2514689 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:101157227G>A ENST00000428847.2 - 1 402 NM_001029860.3 NP_001025031.2 Q4G163 FBX43_HUMAN F-box protein 43 NA NA meiotic nuclear division (GO:0007126)|negative regulation of meiosis (GO:0045835)|negative regulation of protein catabolic process (GO:0042177)|protein ubiquitination (GO:0016567) nucleus (GO:0005634) zinc ion binding (GO:0008270) endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1) 31 all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798) Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957) AGAGAATGAAGTACTTACATT 0.358 NA A||| 2383 0.475839 0.5764 0.464 5008 , , NA 18640 0.6022 NA 0.3608 False NA ,,, NA NA NA 2504 0.3364 NA NA NA NA 0 A 746,638 191,364,137 90 76 80 0.6 0 8 dbSNP_100 80 1143,2039 208,727,656 yes intron FBXO43 NM_001029860.3 399,1091,793 AA,AG,GG 35.9208,46.0983,41.371 101157227 1889,2677 692 1591 2283 SO:0001627 intron_variant BC028709 CCDS47904.1 8q22.3 2004-08-24 ENSG00000156509 ENSG00000156509 286151 F-boxes / other 28521 protein-coding gene gene with protein product 609110 NA Standard XM_209918 NR_036491 NA Approved Fbx43 uc003yjd.3 Q4G163 OTTHUMG00000164803 ENST00000428847.2:c.85+51C>T chr8.hg19:g.101157227G>A NA hg19 CCDS47904.1 0.02 8.500794 GAAxTAC COVERED NOVEL FBXO43-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000380380.1 2 17.45555 KEEP 0 0 0 58 2021 GG 1 1 0 - 11 60 390 0 0 25.495749 200 60 7487 291 ENST00000428847.2 0.052133 1 FBXO43 286151 __UNKNOWN__ __UNKNOWN__ 8 101157467 101157467 __UNKNOWN__ 5'UTR SNP T T A rs2306044 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:101157467T>A ENST00000428847.2 - 0 213 NM_001029860.3 NP_001025031.2 Q4G163 FBX43_HUMAN F-box protein 43 NA NA meiotic nuclear division (GO:0007126)|negative regulation of meiosis (GO:0045835)|negative regulation of protein catabolic process (GO:0042177)|protein ubiquitination (GO:0016567) nucleus (GO:0005634) zinc ion binding (GO:0008270) endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1) 31 all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798) Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957) ACAGGGTGCATGCCGCAGGGA 0.383 NA T||| 427 0.0852636 0.2057 0.0346 5008 , , NA 18330 0.0883 NA 0.001 False NA ,,, NA NA NA 2504 0.0419 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant BC028709 CCDS47904.1 8q22.3 2004-08-24 ENSG00000156509 ENSG00000156509 286151 F-boxes / other 28521 protein-coding gene gene with protein product 609110 NA Standard XM_209918 NR_036491 NA Approved Fbx43 uc003yjd.3 Q4G163 OTTHUMG00000164803 ENST00000428847.2:c.-104A>T chr8.hg19:g.101157467T>A NA hg19 CCDS47904.1 0.02 17.778048 GCAxGCC COVERED NOVEL FBXO43-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000380380.1 5 43.032098 KEEP 0 0 0 143 4565 TT 1 1 0 - 12 60 453 0 0 27.17524 424 60 15681 707 ENST00000428847.2 0.027523 1 POLR2K 5440 __UNKNOWN__ __UNKNOWN__ 8 101163699 101163699 __UNKNOWN__ Intron SNP T T C rs3104196 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:101163699T>C ENST00000353107.3 + 2 196 POLR2K_ENST00000522439.1_Intron|POLR2K_ENST00000519765.1_3'UTR NM_005034.3 NP_005025.1 P53803 RPAB4_HUMAN polymerase (RNA) II (DNA directed) polypeptide K, 7.0kDa NA NA 7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|RNA splicing (GO:0008380)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032) cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase II, core complex (GO:0005665)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270) large_intestine(1)|lung(1)|prostate(1) 3 all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798) Epithelial(11;1.59e-09)|all cancers(13;1.74e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957) TTTTTGAAATTGTTACATTTA 0.323 NA T||| 426 0.0850639 0.2057 0.0331 5008 , , NA 17243 0.0883 NA 0.001 False NA ,,, NA NA NA 2504 0.0419 NA NA NA NA 0 T 233,1151 17,199,476 30 27 28 -9.8 0 8 dbSNP_103 28 6,3176 0,6,1585 no intron POLR2K NM_005034.3 17,205,2061 CC,CT,TT 0.1886,16.8353,5.2343 101163699 239,4327 692 1591 2283 SO:0001627 intron_variant CCDS6285.1 8q22 2013-01-21 2002-08-29 ENSG00000147669 ENSG00000147669 5440 RNA polymerase subunits 9198 protein-coding gene gene with protein product 606033 polymerase (RNA) II (DNA directed) polypeptide K (7.0kD) NA Standard NM_005034 NM_005034 NA Approved RPB10alpha uc003yjf.3 P53803 OTTHUMG00000164705 ENST00000353107.3:c.61+55T>C chr8.hg19:g.101163699T>C NA Q6IBD4 hg19 CCDS6285.1 0.02 4.814408 AATxGTT COVERED NOVEL POLR2K-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000379849.1 0 12.034424 KEEP 0 0 0 40 1223 TT 1 1 0 + 9 60 281 0 1 17.21862 157 60 5799 211 ENST00000353107.3 0.054217 1 SPAG1 6674 __UNKNOWN__ __UNKNOWN__ 8 101196824 101196824 __UNKNOWN__ Intron SNP G G A rs2453656 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:101196824G>A ENST00000388798.2 + 7 786 SPAG1_ENST00000520508.1_Intron|SPAG1_ENST00000520643.1_Intron|SPAG1_ENST00000251809.3_Intron NM_003114.4 NP_003105.2 Q07617 SPAG1_HUMAN sperm associated antigen 1 NA NA axonemal dynein complex assembly (GO:0070286)|single fertilization (GO:0007338) cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634) GTP binding (GO:0005525)|hydrolase activity (GO:0016787) central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 30 all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823) Breast(495;0.195) Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525) KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236) TAAATTATACGTTTACATATA 0.279 NA G||| 2180 0.435304 0.4228 0.4467 5008 , , NA 16958 0.6081 NA 0.3628 False NA ,,, NA NA NA 2504 0.3405 NA NA NA NA 0 G , 1788,2610 358,1072,769 32 33 33 , -0.1 0 8 dbSNP_100 33 3095,5499 563,1969,1765 no intron,intron SPAG1 NM_003114.4,NM_172218.2 , 921,3041,2534 AA,AG,GG 36.0135,40.6548,37.5847 , , 101196824 4883,8109 2199 4297 6496 SO:0001627 intron_variant AF311312 CCDS34930.1 8q22 2014-01-21 ENSG00000104450 ENSG00000104450 6674 Tetratricopeptide (TTC) repeat domain containing 11212 protein-coding gene gene with protein product 603395 NA 16368546 Standard NM_172218 NM_172218 NA Approved SP75, FLJ32920, HSD-3.8, TPIS, CT140 uc003yjh.2 Q07617 OTTHUMG00000164706 ENST00000388798.2:c.596-32G>A chr8.hg19:g.101196824G>A NA A6NP70|B3KQ58|G3XAM3|Q7Z5G1 hg19 CCDS34930.1 0.02 6.410875 TACxTTT COVERED NOVEL SPAG1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000379853.2 0 5.717663 KEEP 0 0 0 19 614 GG 0.99986 0.99986 0 + 9 60 328 0 0 21.649169 168 60 5561 213 ENST00000388798.2 0.050847 1 RNF19A 25897 __UNKNOWN__ __UNKNOWN__ 8 101270686 101270686 __UNKNOWN__ 3'UTR SNP G G A rs143268683 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:101270686G>A ENST00000519449.1 - 0 2931 RNF19A_ENST00000341084.2_3'UTR NM_001280539.1|NM_015435.3 NP_001267468.1|NP_056250.3 Q9NV58 RN19A_HUMAN ring finger protein 19A, RBR E3 ubiquitin protein ligase NA NA microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567) centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021) ligase activity (GO:0016874)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270) breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 30 all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166) Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525) AATGAAACCCGGCTTTTGCTG 0.393 NA G||| 29 0.00579073 0.0 0.0 5008 , , NA 20299 0.0288 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB029316 CCDS6286.1 8q22 2013-10-03 2013-10-03 2007-08-20 ENSG00000034677 25897 RING-type (C3HC4) zinc fingers 13432 protein-coding gene gene with protein product 607119 ring finger protein 19, ring finger protein 19A, ring finger protein 19A, E3 ubiquitin protein ligase RNF19 NA 11237715, 10976766 Standard NM_015435 NM_183419 NA Approved dorfin, DKFZp566B1346 uc003yjj.1 Q9NV58 ENST00000519449.1:c.*98C>T chr8.hg19:g.101270686G>A NA A3KCU9|Q52LG1|Q9H5H9|Q9H8M8|Q9UFG0|Q9UFX6|Q9Y4Y1 hg19 CCDS6286.1 0.02 15.104118 CCCxGCT COVERED NOVEL RNF19A-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000380004.1 2 24.676088 KEEP 0 0 0 82 2709 GG 1 1 0 - 12 60 443 0 0 26.780171 377 60 12643 527 ENST00000519449.1 0.030848 1 PABPC1 26986 __UNKNOWN__ __UNKNOWN__ 8 101717832 101717832 __UNKNOWN__ Missense_Mutation SNP G G C rs75035099 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:101717832G>C ENST00000318607.5 - 12 2800 c.1672C>G c.(1672-1674)Caa>Gaa p.Q558E PABPC1_ENST00000519004.1_Missense_Mutation_p.Q513E|PABPC1_ENST00000522387.1_Missense_Mutation_p.Q526E NM_002568.3 NP_002559.2 P11940 PABP1_HUMAN poly(A) binding protein, cytoplasmic 1 558 PABC. {ECO:0000255|PROSITE- ProRule:PRU00641}. NA cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413) catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529) nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494) breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1) 40 all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206) ATTTGCTTTTGCTCTTGAGGA 0.428 NA NA NA NA NA NA NA NA NA NA NA 0 59 51 54 NA NA 8 NA 101717832 2203 4300 6503 SO:0001583 missense Y00345 CCDS6289.1 8q22.2-q23 2013-02-12 2004-04-20 ENSG00000070756 ENSG00000070756 26986 RNA binding motif (RRM) containing 8554 protein-coding gene gene with protein product 604679 poly(A)-binding protein, cytoplasmic 2 PAB1, PABPC2 NA 2885805 Standard NM_002568 XM_005250861 NA Approved PABP1, PABPL1 uc003yjs.1 P11940 OTTHUMG00000164779 ENST00000318607.5:c.1672C>G chr8.hg19:g.101717832G>C ENSP00000313007:p.Gln558Glu NA Q15097|Q93004 hg19 CCDS6289.1 0.02 10.837832 TTTxCTC COVERED 245|245 0.11217948717948718|0.11217948717948718 94|94 0.1910569105691057|0.1910569105691057 30|30 0.08287292817679558|0.08287292817679558 48|48 0.08391608391608392|0.08391608391608392 73|73 0.09630606860158311|0.09630606860158311 G|G 28.4|28.4 4.918584|4.918584 0.92249|0.92249 .|. .|. ENSG00000070756|ENSG00000070756 ENST00000318607;ENST00000347137;ENST00000519004;ENST00000522387;ENST00000517990;ENST00000522658|ENST00000520868 T;T;T;T;T|. 0.55760|. 0.5;0.5;0.5;0.5;0.5|. 5.75|5.75 5.75|5.75 0.90469|0.90469 Polyadenylate-binding protein/Hyperplastic disc protein (5);|. 0.000000|. 0.64402|. D|. 0.000007|. T|T 0.00724|0.00724 0.0024|0.0024 H|H 0.94183|0.94183 3.505|3.505 0.80722|0.80722 D|D 1|1 D;P;B|. 0.63880|. 0.993;0.573;0.316|. D;P;P|. 0.71414|. 0.973;0.453;0.453|. T|T 0.43048|0.43048 -0.9415|-0.9415 10|5 0.87932|. D|. 0|. .|. 19.907|19.907 0.97012|0.97012 0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0 .|. 526;558;558|. E7ERJ7;B3KT93;P11940|. .;.;PABP1_HUMAN|. E|R 558;469;513;526;67;105|90 ENSP00000313007:Q558E;ENSP00000429594:Q513E;ENSP00000429395:Q526E;ENSP00000428030:Q67E;ENSP00000428840:Q105E|. ENSP00000313007:Q558E|. Q|S -|- 1|3 0|2 PABPC1|PABPC1 101787008|101787008 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.999000|0.999000 0.98932|0.98932 9.789000|9.789000 0.99068|0.99068 2.880000|2.880000 0.98712|0.98712 0.655000|0.655000 0.94253|0.94253 CAA|AGC NOVEL PABPC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000380217.1 18 15.350307 KEEP 1 0 0 51 1819 GG 1 1 0 - 15 32 549 0 0 37.448797 234 60 8977 361 ENST00000318607.5 0.060241 1 PABPC1 26986 __UNKNOWN__ __UNKNOWN__ 8 101725000 101725000 __UNKNOWN__ Silent SNP G G A rs62513925 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:101725000G>A ENST00000318607.5 - 6 1884 c.756C>T c.(754-756)aaC>aaT p.N252N PABPC1_ENST00000519004.1_Silent_p.N207N|PABPC1_ENST00000522387.1_Silent_p.N220N|PABPC1_ENST00000519596.1_5'UTR NM_002568.3 NP_002559.2 P11940 PABP1_HUMAN poly(A) binding protein, cytoplasmic 1 252 CSDE1-binding.|RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}. NA cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413) catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529) nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494) breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1) 40 all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206) GCTCCTTTCCGTTCATCTCAT 0.368 NA G||| 4 0.000798722 0.0008 0.0 5008 , , NA 17072 0.0 NA 0.0 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 89 81 84 NA NA 8 NA 101725000 2203 4300 6503 SO:0001819 synonymous_variant Y00345 CCDS6289.1 8q22.2-q23 2013-02-12 2004-04-20 ENSG00000070756 ENSG00000070756 26986 RNA binding motif (RRM) containing 8554 protein-coding gene gene with protein product 604679 poly(A)-binding protein, cytoplasmic 2 PAB1, PABPC2 NA 2885805 Standard NM_002568 XM_005250861 NA Approved PABP1, PABPL1 uc003yjs.1 P11940 OTTHUMG00000164779 ENST00000318607.5:c.756C>T chr8.hg19:g.101725000G>A NA Q15097|Q93004 hg19 CCDS6289.1 0.02 6.985937 TCCxTTC COVERED .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 8.541|8.541 0.873172|0.873172 0.17322|0.17322 .|. .|. ENSG00000070756|ENSG00000070756 ENST00000519596|ENST00000519100 .|. .|. .|. 5.57|5.57 1.83|1.83 0.25207|0.25207 .|. .|. .|. .|. .|. T|T 0.58119|0.58119 0.2100|0.2100 .|. .|. .|. 0.80722|0.80722 D|D 1|1 .|. .|. .|. .|. .|. .|. T|T 0.50311|0.50311 -0.8843|-0.8843 4|4 .|. .|. .|. .|. 9.6713|9.6713 0.40015|0.40015 0.8007:0.0:0.1993:0.0|0.8007:0.0:0.1993:0.0 rs62513925|rs62513925 .|. .|. .|. W|M 85|121 .|. .|. R|T -|- 1|2 2|0 PABPC1|PABPC1 101794176|101794176 0.996000|0.996000 0.38824|0.38824 1.000000|1.000000 0.80357|0.80357 0.994000|0.994000 0.84299|0.84299 0.651000|0.651000 0.24873|0.24873 0.140000|0.140000 0.18849|0.18849 -0.238000|-0.238000 0.12139|0.12139 CGG|ACG NOVEL PABPC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000380217.1 4 7.368826 KEEP 0 2 61 46 1447 GG 1 1 0 - 8 60 292 0 0 18.923182 167 60 5555 273 ENST00000318607.5 0.045714 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 101769781 101769781 __UNKNOWN__ IGR SNP C C A rs3133566 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:101769781C>A NA NA Y_RNA (2358 upstream) : RNU4-83P (74174 downstream) NA NA NA aggctggtctcaaacttctgg 0.488 NA C||| 1106 0.220847 0.1044 0.1902 5008 , , NA 18568 0.1806 NA 0.332 False NA ,,, NA NA NA 2504 0.3272 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr8.hg19:g.101769781C>A NA hg19 0.02 -0.043867 TCTxAAA UNCOVERED NOVEL 0 3 2.708613 KEEP 0 0 0 9 313 CC 0.99254 0.023894 0 2 60 76 0 0 7.092785 3 60 117 18 0.4 0.024074 GRHL2 79977 __UNKNOWN__ __UNKNOWN__ 8 102680405 102680405 __UNKNOWN__ 3'UTR SNP T T C rs3735717 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:102680405T>C ENST00000251808.3 + 0 3690 NM_024915.3 NP_079191.2 Q6ISB3 GRHL2_HUMAN grainyhead-like 2 (Drosophila) NA NA brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac ventricle morphogenesis (GO:0003208)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|face development (GO:0060324)|in utero embryonic development (GO:0001701)|lung lobe morphogenesis (GO:0060463)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677) breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05) Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213) TGAACCATCATGGGCCACTGT 0.512 NA T||| 1804 0.360224 0.0885 0.451 5008 , , NA 19434 0.4167 NA 0.6024 False NA ,,, NA NA NA 2504 0.3558 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK023844 CCDS34931.1 8q22.3 2008-02-05 2005-07-11 2005-07-11 ENSG00000083307 ENSG00000083307 79977 2799 protein-coding gene gene with protein product 608576 deafness, autosomal dominant 28, transcription factor CP2-like 3 DFNA28, TFCP2L3 NA 12393799 Standard NM_024915 NM_024915 NA Approved FLJ13782, BOM uc010mbu.3 Q6ISB3 OTTHUMG00000149915 ENST00000251808.3:c.*1474T>C chr8.hg19:g.102680405T>C NA A1L303|Q6NT03|Q9H8B8 hg19 CCDS34931.1 0.02 6.02367 TCAxGGG COVERED NOVEL GRHL2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000313882.1 2 10.230004 KEEP 0 0 0 34 1050 TT 0.999998 0.999998 0 + 7 60 254 0 0 15.776409 180 60 6677 264 ENST00000251808.3 0.037433 1 NCALD 83988 __UNKNOWN__ __UNKNOWN__ 8 102700331 102700331 __UNKNOWN__ 3'UTR SNP G G A rs28362495 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:102700331G>A ENST00000311028.3 - 0 2166 NCALD_ENST00000521599.1_3'UTR|NCALD_ENST00000220931.6_3'UTR|NCALD_ENST00000395923.1_3'UTR|KB-1107E3.1_ENST00000518749.1_RNA NM_001040624.1|NM_001040626.1 NP_001035714.1|NP_001035716.1 P61601 NCALD_HUMAN neurocalcin delta NA NA calcium-mediated signaling (GO:0019722)|regulation of systemic arterial blood pressure (GO:0003073)|synaptic transmission (GO:0007268)|vesicle-mediated transport (GO:0016192) clathrin coat of trans-Golgi network vesicle (GO:0030130)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622) actin binding (GO:0003779)|calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|tubulin binding (GO:0015631) endometrium(1)|large_intestine(2)|lung(4)|prostate(1) 8 all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05) all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699) GAATGTATGTGATGTTTTTTC 0.478 NA G||| 268 0.0535144 0.003 0.0461 5008 , , NA 18724 0.121 NA 0.0129 False NA ,,, NA NA NA 2504 0.0992 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF052142 CCDS6292.1 8q22.3 2014-08-12 ENSG00000104490 ENSG00000104490 83988 EF-hand domain containing 7655 protein-coding gene gene with protein product 606722 NA 11267673 Standard XM_006716672 NA Approved uc003ykk.3 P61601 OTTHUMG00000164876 ENST00000311028.3:c.*1206C>T chr8.hg19:g.102700331G>A NA P29554|Q8IYC3|Q9H0W2 hg19 CCDS6292.1 0.02 3.701692 TGTxATG COVERED NOVEL NCALD-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000380732.2 0 15.65069 KEEP 0 0 0 52 1826 GG 1 1 0 - 5 60 173 0 0 10.423015 129 60 4765 219 ENST00000311028.3 0.037313 1 NCALD 83988 __UNKNOWN__ __UNKNOWN__ 8 102704965 102704965 __UNKNOWN__ Intron SNP C C T rs3735718 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:102704965C>T ENST00000522951.1 - 3 619 NCALD_ENST00000521599.1_Intron|NCALD_ENST00000220931.6_Intron|NCALD_ENST00000311028.3_Intron|NCALD_ENST00000395923.1_Intron|NCALD_ENST00000519508.2_Intron P61601 NCALD_HUMAN neurocalcin delta NA NA calcium-mediated signaling (GO:0019722)|regulation of systemic arterial blood pressure (GO:0003073)|synaptic transmission (GO:0007268)|vesicle-mediated transport (GO:0016192) clathrin coat of trans-Golgi network vesicle (GO:0030130)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622) actin binding (GO:0003779)|calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|tubulin binding (GO:0015631) endometrium(1)|large_intestine(2)|lung(4)|prostate(1) 8 all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05) all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699) CTGGACTCTCCAGTCCTTCCA 0.587 NA C||| 294 0.0587061 0.0136 0.049 5008 , , NA 15594 0.1349 NA 0.0099 False NA ,,, NA NA NA 2504 0.0982 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF052142 CCDS6292.1 8q22.3 2014-08-12 ENSG00000104490 ENSG00000104490 83988 EF-hand domain containing 7655 protein-coding gene gene with protein product 606722 NA 11267673 Standard XM_006716672 NA Approved uc003ykk.3 P61601 OTTHUMG00000164876 ENST00000522951.1:c.484+53G>A chr8.hg19:g.102704965C>T NA P29554|Q8IYC3|Q9H0W2 hg19 0.02 4.270523 CTCxAGT COVERED NOVEL NCALD-002 PUTATIVE alternative_5_UTR|not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000380730.1 0 11.135919 KEEP 0 0 0 37 1273 CC 1 0.999999 0 - 8 60 286 0 0 19.486422 118 60 4198 175 ENST00000522951.1 0.063492 1 UBR5 51366 __UNKNOWN__ __UNKNOWN__ 8 103326134 103326134 __UNKNOWN__ Silent SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:103326134C>T ENST00000521922.1 - 16 2411 c.1887G>A c.(1885-1887)cgG>cgA p.R629R UBR5_ENST00000220959.4_Silent_p.R635R|UBR5_ENST00000520539.1_Silent_p.R635R O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 635 NA cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511) cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634) ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270) NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) CAGGGGTTGACCGTCGTCGTT 0.373 NA NA NA NA NA NA NA NA NA NA Ovarian(131;96 1741 5634 7352 27489) NA 0 143 128 133 NA NA 8 NA 103326134 2203 4300 6503 SO:0001819 synonymous_variant AF006010 CCDS34933.1, CCDS64946.1 8q22 2008-06-23 2007-06-19 2007-06-19 ENSG00000104517 ENSG00000104517 51366 Ubiquitin protein ligase E3 component n-recognins 16806 protein-coding gene gene with protein product 608413 E3 ubiquitin protein ligase, HECT domain containing, 1 EDD1 NA 10030672, 16055722 Standard NM_015902 NM_015902 NA Approved DD5, HYD, EDD, KIAA0896 uc003ykr.2 O95071 OTTHUMG00000164755 ENST00000521922.1:c.1887G>A chr8.hg19:g.103326134C>T NA B2RP24|J3KMW7|O94970|Q9NPL3 hg19 0.02 8.745651 TGAxCGT COVERED NOVEL UBR5-003 NOVEL basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000380199.1 0 25.583683 KEEP 0 0 0 85 3061 CC 1 1 0 - 8 60 300 0 0 18.591562 232 60 8475 421 ENST00000521922.1 0.033333 1 ATP6V1C1 528 __UNKNOWN__ __UNKNOWN__ 8 104081226 104081226 __UNKNOWN__ 3'UTR SNP A A G rs8079 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:104081226A>G ENST00000395862.3 + 0 1559 ATP6V1C1_ENST00000518738.1_3'UTR|ATP6V1C1_ENST00000518857.1_3'UTR|ATP6V1C1_ENST00000521514.1_3'UTR NM_001695.4 NP_001686.1 P21283 VATC1_HUMAN ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1 NA NA ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085) apical part of cell (GO:0045177)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180) hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transporter activity (GO:0005215) breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|urinary_tract(1) 13 Lung NSC(17;0.000427)|all_lung(17;0.000533) OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133) TTTATAAACAAAATAGTTTAT 0.264 NA G||| 2657 0.530551 0.5484 0.6484 5008 , , NA 15884 0.4871 NA 0.5408 False NA ,,, NA NA NA 2504 0.4571 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X69151 CCDS6296.1 8p22.3 2011-05-24 2006-01-13 2002-05-10 ENSG00000155097 ENSG00000155097 528 3.6.3.14 ATPases / V-type 856 protein-coding gene gene with protein product 603097 ATPase, H+ transporting, lysosomal (vacuolar proton pump) 42kD, ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C, isoform 1 ATP6D, ATP6C NA 8250920, 14580332 Standard NM_001695 NM_001695 NA Approved VATC, Vma5 uc003ykz.4 P21283 OTTHUMG00000164761 ENST00000395862.3:c.*251A>G chr8.hg19:g.104081226A>G NA hg19 CCDS6296.1 0.02 1.939081 ACAxAAT COVERED NOVEL ATP6V1C1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000380101.1 0 3.911564 KEEP 0 0 0 13 400 AA 0.994391 0.992601 0 + 8 60 284 0 0 21.212803 66 60 2293 92 ENST00000395862.3 0.108108 0.9982 ATP6V1C1 528 __UNKNOWN__ __UNKNOWN__ 8 104081996 104081996 __UNKNOWN__ 3'UTR SNP C C T rs1158921 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:104081996C>T ENST00000395862.3 + 0 2329 NM_001695.4 NP_001686.1 P21283 VATC1_HUMAN ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1 NA NA ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085) apical part of cell (GO:0045177)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180) hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transporter activity (GO:0005215) breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|urinary_tract(1) 13 Lung NSC(17;0.000427)|all_lung(17;0.000533) OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133) TCTCTTACTACGTACTCACAG 0.343 NA T||| 1325 0.264577 0.4652 0.1715 5008 , , NA 16965 0.2143 NA 0.2197 False NA ,,, NA NA NA 2504 0.1575 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X69151 CCDS6296.1 8p22.3 2011-05-24 2006-01-13 2002-05-10 ENSG00000155097 ENSG00000155097 528 3.6.3.14 ATPases / V-type 856 protein-coding gene gene with protein product 603097 ATPase, H+ transporting, lysosomal (vacuolar proton pump) 42kD, ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C, isoform 1 ATP6D, ATP6C NA 8250920, 14580332 Standard NM_001695 NM_001695 NA Approved VATC, Vma5 uc003ykz.4 P21283 OTTHUMG00000164761 ENST00000395862.3:c.*1021C>T chr8.hg19:g.104081996C>T NA hg19 CCDS6296.1 0.02 11.513451 CTAxGTA COVERED NOVEL ATP6V1C1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000380101.1 2 23.172206 KEEP 0 0 0 77 2625 CC 1 1 0 + 9 60 349 0 0 22.136739 256 60 8946 429 ENST00000395862.3 0.033962 1 ATP6V1C1 528 __UNKNOWN__ __UNKNOWN__ 8 104083651 104083651 __UNKNOWN__ 3'UTR SNP C C T rs2453994 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:104083651C>T ENST00000395862.3 + 0 3984 NM_001695.4 NP_001686.1 P21283 VATC1_HUMAN ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1 NA NA ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085) apical part of cell (GO:0045177)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180) hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transporter activity (GO:0005215) breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|urinary_tract(1) 13 Lung NSC(17;0.000427)|all_lung(17;0.000533) OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133) agtcacaaatcttgagccagt 0.453 NA T||| 1340 0.267572 0.4652 0.1715 5008 , , NA 18875 0.2292 NA 0.2197 False NA ,,, NA NA NA 2504 0.1575 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X69151 CCDS6296.1 8p22.3 2011-05-24 2006-01-13 2002-05-10 ENSG00000155097 ENSG00000155097 528 3.6.3.14 ATPases / V-type 856 protein-coding gene gene with protein product 603097 ATPase, H+ transporting, lysosomal (vacuolar proton pump) 42kD, ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C, isoform 1 ATP6D, ATP6C NA 8250920, 14580332 Standard NM_001695 NM_001695 NA Approved VATC, Vma5 uc003ykz.4 P21283 OTTHUMG00000164761 ENST00000395862.3:c.*2676C>T chr8.hg19:g.104083651C>T NA hg19 CCDS6296.1 0.02 1.563896 AATxTTG COVERED NOVEL ATP6V1C1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000380101.1 0 8.427464 KEEP 0 0 0 28 999 CC 0.999997 0.999904 0 + 4 60 141 0 0 8.82802 90 60 3443 138 ENST00000395862.3 0.042553 0.999907 DCAF13 25879 __UNKNOWN__ __UNKNOWN__ 8 104427359 104427359 __UNKNOWN__ Missense_Mutation SNP A A C rs3134295 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:104427359A>C ENST00000297579.5 + 1 418 c.141A>C c.(139-141)agA>agC p.R47S NM_015420.6 NP_056235.4 Q9NV06 DCA13_HUMAN DDB1 and CUL4 associated factor 13 0 NA protein ubiquitination (GO:0016567)|rRNA processing (GO:0006364) Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529) poly(A) RNA binding (GO:0044822) NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 25 CGGGGCACAGACACTACGTCA 0.667 NA c||| 2145 0.428315 0.4985 0.4294 5008 , , NA 16891 0.3462 NA 0.4722 False NA ,,, NA NA NA 2504 0.3722 NA NA NA NA 0 - SER/ARG, 2186,2220 537,1112,554 46 45 45 141, 1 0 8 dbSNP_103 45 3825,4775 878,2069,1353 yes missense,utr-5 DCAF13,SLC25A32 NM_015420.6,NM_030780.3 110, 1415,3181,1907 CC,CA,AA 44.4767,49.6142,46.2171 benign, 47/598, 104427359 6011,6995 2203 4300 6503 SO:0001583 missense AK074725 CCDS34934.1 8q22.3 2013-01-09 2009-07-17 2009-07-17 ENSG00000164934 ENSG00000164934 25879 WD repeat domain containing, DDB1 and CUL4 associated factors 24535 protein-coding gene gene with protein product WD repeats and SOF1 domain containing WDSOF1 NA 11042152 Standard NM_015420 NM_015420 NA Approved DKFZP564O0463, Gm83, HSPC064 uc003yln.3 Q9NV06 OTTHUMG00000164888 ENST00000297579.5:c.141A>C chr8.hg19:g.104427359A>C ENSP00000297579:p.Arg47Ser NA Q3MII9|Q8NCH8|Q8TC51|Q96JY7|Q9NZX3 hg19 CCDS34934.1 0.02 15.182272 CAGxCAC COVERED 983 0.4500915750915751 244 0.4959349593495935 170 0.4696132596685083 203 0.3548951048951049 366 0.48284960422163586 C 2.986 -0.209151 0.06140 0.496142 0.444767 ENSG00000164934 ENST00000297579 T 0.76968 -1.06 4.05 0.973 0.19710 . . . . . T 0.00012 0.0000 . . . 0.53688 P 2.599999999997049E-5 . . . . . . T 0.34725 -0.9817 5 0.02654 T 1 1.0596 2.054 0.03577 0.357:0.3658:0.174:0.1032 rs3134295;rs52825097;rs57877210;rs3134295 . . . S 47 ENSP00000297579:R47S ENSP00000297579:R47S R + 3 2 DCAF13 104496535 0.000000 0.05858 0.000000 0.03702 0.005000 0.04900 -3.250000 0.00540 0.137000 0.18759 -0.127000 0.14921 AGA NOVEL DCAF13-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000380797.2 4 45.041609 KEEP 0 6 210 223 6991 AA 1 1 0 + 15 60 545 0 0 34.23133 365 60 12897 760 ENST00000297579.5 0.039474 1 DCAF13 25879 __UNKNOWN__ __UNKNOWN__ 8 104427541 104427541 __UNKNOWN__ Missense_Mutation SNP C C T rs3134296 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:104427541C>T ENST00000297579.5 + 1 600 c.323C>T c.(322-324)cCa>cTa p.P108L NM_015420.6 NP_056235.4 Q9NV06 DCA13_HUMAN DDB1 and CUL4 associated factor 13 0 NA protein ubiquitination (GO:0016567)|rRNA processing (GO:0006364) Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529) poly(A) RNA binding (GO:0044822) NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 25 CCAGTTGAGCCAGCAGGCCGC 0.642 NA C||| 1112 0.222045 0.1626 0.2262 5008 , , NA 16959 0.3323 NA 0.168 False NA ,,, NA NA NA 2504 0.2413 NA NA NA NA 0 C LEU/PRO 734,3668 49,636,1516 31 40 37 323 0.6 0 8 dbSNP_103 37 1117,7477 83,951,3263 yes missense DCAF13 NM_015420.6 98 132,1587,4779 TT,TC,CC 12.9974,16.6742,14.2428 benign 108/598 104427541 1851,11145 2201 4297 6498 SO:0001583 missense AK074725 CCDS34934.1 8q22.3 2013-01-09 2009-07-17 2009-07-17 ENSG00000164934 ENSG00000164934 25879 WD repeat domain containing, DDB1 and CUL4 associated factors 24535 protein-coding gene gene with protein product WD repeats and SOF1 domain containing WDSOF1 NA 11042152 Standard NM_015420 NM_015420 NA Approved DKFZP564O0463, Gm83, HSPC064 uc003yln.3 Q9NV06 OTTHUMG00000164888 ENST00000297579.5:c.323C>T chr8.hg19:g.104427541C>T ENSP00000297579:p.Pro108Leu NA Q3MII9|Q8NCH8|Q8TC51|Q96JY7|Q9NZX3 hg19 CCDS34934.1 0.02 21.033536 AGCxAGC COVERED 489 0.2239010989010989 86 0.17479674796747968 76 0.20994475138121546 196 0.34265734265734266 131 0.17282321899736147 C 12.25 1.882032 0.33255 0.166742 0.129974 ENSG00000164934 ENST00000297579 T 0.78126 -1.15 4.55 0.585 0.17428 . 1.567910 0.04564 U 0.392106 T 0.00012 0.0000 . . . 0.58432 P 4.000000000004E-6 . . . . . . T 0.04178 -1.0971 6 0.25106 T 0.35 . 2.547 0.04739 0.1381:0.4278:0.2698:0.1642 rs3134296;rs3736048;rs28364768;rs3134296 . . . L 108 ENSP00000297579:P108L ENSP00000297579:P108L P + 2 0 DCAF13 104496717 0.000000 0.05858 0.000000 0.03702 0.008000 0.06430 -0.198000 0.09505 0.226000 0.20979 -0.253000 0.11424 CCA NOVEL DCAF13-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000380797.2 7 95.97832 KEEP 0 0 0 319 11131 CC 1 1 0 + 15 60 539 0 0 32.155401 470 60 17550 1082 ENST00000297579.5 0.030928 1 DCAF13 25879 __UNKNOWN__ __UNKNOWN__ 8 104427578 104427578 __UNKNOWN__ Silent SNP T T C rs3134297 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:104427578T>C ENST00000297579.5 + 1 637 c.360T>C c.(358-360)agT>agC p.S120S NM_015420.6 NP_056235.4 Q9NV06 DCA13_HUMAN DDB1 and CUL4 associated factor 13 0 NA protein ubiquitination (GO:0016567)|rRNA processing (GO:0006364) Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529) poly(A) RNA binding (GO:0044822) NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 25 TGACTGGAAGTAGTCTGGGAA 0.632 NA T||| 1270 0.253594 0.202 0.268 5008 , , NA 18261 0.3333 NA 0.2306 False NA ,,, NA NA NA 2504 0.2546 NA NA NA NA 0 T 949,3453 103,743,1355 37 45 43 360 1.9 0.7 8 dbSNP_103 43 1809,6783 189,1431,2676 no coding-synonymous DCAF13 NM_015420.6 292,2174,4031 CC,CT,TT 21.0545,21.5584,21.2252 120/598 104427578 2758,10236 2201 4296 6497 SO:0001819 synonymous_variant AK074725 CCDS34934.1 8q22.3 2013-01-09 2009-07-17 2009-07-17 ENSG00000164934 ENSG00000164934 25879 WD repeat domain containing, DDB1 and CUL4 associated factors 24535 protein-coding gene gene with protein product WD repeats and SOF1 domain containing WDSOF1 NA 11042152 Standard NM_015420 NM_015420 NA Approved DKFZP564O0463, Gm83, HSPC064 uc003yln.3 Q9NV06 OTTHUMG00000164888 ENST00000297579.5:c.360T>C chr8.hg19:g.104427578T>C NA Q3MII9|Q8NCH8|Q8TC51|Q96JY7|Q9NZX3 hg19 CCDS34934.1 0.02 20.757243 AAGxAGT COVERED NOVEL DCAF13-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000380797.2 5 83.329219 KEEP 0 3 82 306 9091 TT 1 1 0 + 13 60 499 0 0 30.280288 458 60 15749 991 ENST00000297579.5 0.027601 1 DCSTAMP 81501 __UNKNOWN__ __UNKNOWN__ 8 105361461 105361461 __UNKNOWN__ Silent SNP T T C rs190999185 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:105361461T>C ENST00000517991.1 + 1 693 c.681T>C c.(679-681)acT>acC p.T227T DCSTAMP_ENST00000297581.2_Silent_p.T227T|DPYS_ENST00000521601.1_Intron NM_001257317.1 NP_001244246.1 Q9H295 DCSTP_HUMAN dendrocyte expressed seven transmembrane protein 227 NA cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657) cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887) NA TGCTTGGCACTGGCCTCTTCA 0.493 NA t||| 9 0.00179712 0.0 0.0 5008 , , NA 20006 0.0089 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 101 93 96 NA NA 8 NA 105361461 2203 4300 6503 SO:0001819 synonymous_variant AF305068 CCDS6301.1, CCDS59111.1 8q22.3 2012-08-10 2012-03-27 2012-03-27 ENSG00000164935 ENSG00000164935 81501 18549 protein-coding gene gene with protein product Dendritic cells (DC)-specific transmembrane protein, IL-Four INDuced 605933 transmembrane 7 superfamily member 4 TM7SF4 NA 11169400, 11345591 Standard NM_030788 NM_030788 NA Approved DC-STAMP, FIND uc003ylx.2 Q9H295 OTTHUMG00000164890 ENST00000517991.1:c.681T>C chr8.hg19:g.105361461T>C NA B7ZVW2|E7ESG0|Q2M2D5 hg19 CCDS59111.1 0.02 10.297087 CACxGGC COVERED NOVEL DCSTAMP-007 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000380811.1 0 10.529873 KEEP 0 0 0 35 1069 TT 0.999999 0.999999 0 + 8 60 290 0 0 16.927662 282 60 10407 357 ENST00000517991.1 0.027586 1 DCSTAMP 81501 __UNKNOWN__ __UNKNOWN__ 8 105367121 105367121 __UNKNOWN__ Intron SNP A A G rs3802204 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:105367121A>G ENST00000517991.1 + 2 839 DCSTAMP_ENST00000297581.2_Missense_Mutation_p.D349G|DPYS_ENST00000521601.1_Intron NM_001257317.1 NP_001244246.1 Q9H295 DCSTP_HUMAN dendrocyte expressed seven transmembrane protein NA NA cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657) cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887) NA GGAACTCAAGATATTATCCAT 0.358 NA A||| 593 0.118411 0.0605 0.1931 5008 , , NA 20178 0.1319 NA 0.1342 False NA ,,, NA NA NA 2504 0.1135 NA NA NA NA 0 A GLY/ASP 353,4053 180.1+/-208.5 18,317,1868 66 64 65 1046 0.3 0 8 dbSNP_107 65 1169,7431 237.8+/-269.5 88,993,3219 yes missense TM7SF4 NM_030788.2 94 106,1310,5087 GG,GA,AA 13.593,8.0118,11.7023 benign 349/471 105367121 1522,11484 2203 4300 6503 SO:0001627 intron_variant AF305068 CCDS6301.1, CCDS59111.1 8q22.3 2012-08-10 2012-03-27 2012-03-27 ENSG00000164935 ENSG00000164935 81501 18549 protein-coding gene gene with protein product Dendritic cells (DC)-specific transmembrane protein, IL-Four INDuced 605933 transmembrane 7 superfamily member 4 TM7SF4 NA 11169400, 11345591 Standard NM_030788 NM_030788 NA Approved DC-STAMP, FIND uc003ylx.2 Q9H295 OTTHUMG00000164890 ENST00000517991.1:c.828-1231A>G chr8.hg19:g.105367121A>G NA B7ZVW2|E7ESG0|Q2M2D5 hg19 CCDS59111.1 0.02 1.646132 AAGxTAT COVERED 265 0.12133699633699634 33 0.06707317073170732 74 0.20441988950276244 57 0.09965034965034965 101 0.13324538258575197 A 0.797 -0.756924 0.03019 0.080118 0.13593 ENSG00000164935 ENST00000297581 T 0.30182 1.54 5.44 0.324 0.15898 Dendritic cell-specific transmembrane protein-like (1); 0.767529 0.12451 N 0.467785 T 0.00012 0.0000 L 0.28400 0.85 0.80722 P 0.0 B 0.02656 0.0 B 0.08055 0.003 T 0.32719 -0.9896 9 0.25751 T 0.34 -0.1646 4.1981 0.10453 0.5009:0.1767:0.3224:0.0 rs3802204;rs52810559;rs56635979;rs57014874;rs3802204 349 Q9H295 TM7S4_HUMAN G 349 ENSP00000297581:D349G ENSP00000297581:D349G D + 2 0 TM7SF4 105436297 0.000000 0.05858 0.001000 0.08648 0.318000 0.28184 -0.029000 0.12329 -0.103000 0.12175 0.533000 0.62120 GAT NOVEL DCSTAMP-007 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000380811.1 0 3.610728 KEEP 0 0 0 12 382 AA 0.993634 0.993564 0 + 5 60 173 0 0 11.159916 91 60 3239 120 ENST00000517991.1 0.052083 0.99993 DCSTAMP 81501 __UNKNOWN__ __UNKNOWN__ 8 105368685 105368685 __UNKNOWN__ 3'UTR SNP G G C rs3808401 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:105368685G>C ENST00000297581.2 + 0 1721 DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000520080.1_3'UTR NM_030788.3 NP_110415.1 Q9H295 DCSTP_HUMAN dendrocyte expressed seven transmembrane protein NA NA cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657) cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887) NA CAAGACTCTAGCTGGGTCCCC 0.408 NA G||| 601 0.120008 0.0613 0.1931 5008 , , NA 21187 0.1389 NA 0.1342 False NA ,,, NA NA NA 2504 0.1135 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF305068 CCDS6301.1, CCDS59111.1 8q22.3 2012-08-10 2012-03-27 2012-03-27 ENSG00000164935 ENSG00000164935 81501 18549 protein-coding gene gene with protein product Dendritic cells (DC)-specific transmembrane protein, IL-Four INDuced 605933 transmembrane 7 superfamily member 4 TM7SF4 NA 11169400, 11345591 Standard NM_030788 NM_030788 NA Approved DC-STAMP, FIND uc003ylx.2 Q9H295 OTTHUMG00000164890 ENST00000297581.2:c.*259G>C chr8.hg19:g.105368685G>C NA B7ZVW2|E7ESG0|Q2M2D5 hg19 CCDS6301.1 0.02 3.824291 CTAxCTG COVERED NOVEL DCSTAMP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000380810.1 2 4.51478 KEEP 0 0 0 15 535 GG 0.99649 0.996489 0 + 6 60 191 1 0 11.638396 114 60 4271 146 ENST00000297581.2 0.05 0.999999 DPYS 1807 __UNKNOWN__ __UNKNOWN__ 8 105478933 105478933 __UNKNOWN__ Silent SNP G G A rs2298840 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:105478933G>A ENST00000351513.2 - 1 348 c.216C>T c.(214-216)ttC>ttT p.F72F NM_001385.2 NP_001376.1 Q14117 DPYS_HUMAN dihydropyrimidinase 72 NA beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270) NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) CCATGAAGGGGAACTGCATGT 0.736 NA G||| 1160 0.231629 0.2867 0.2133 5008 , , NA 9267 0.3085 NA 0.175 False NA ,,, NA NA NA 2504 0.1493 NA NA NA NA 0 G 728,2942 64,600,1171 18 11 14 216 3 1 8 dbSNP_100 14 1026,5972 73,880,2546 no coding-synonymous DPYS NM_001385.2 137,1480,3717 AA,AG,GG 14.6613,19.8365,16.4417 72/520 105478933 1754,8914 1835 3499 5334 SO:0001819 synonymous_variant D78011 CCDS6302.1 8q22 2004-01-22 ENSG00000147647 ENSG00000147647 1807 3013 protein-coding gene gene with protein product 613326 NA 8973361 Standard NM_001385 NM_001385 NA Approved DHPase uc003yly.4 Q14117 OTTHUMG00000164891 ENST00000351513.2:c.216C>T chr8.hg19:g.105478933G>A NA hg19 CCDS6302.1 0.02 1.863102 GGGxAAC COVERED NOVEL DPYS-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000380814.1 0 7.523302 KEEP 0 0 0 25 832 GG 0.999931 0.999838 0 - 5 60 179 0 0 11.80585 89 60 3246 142 ENST00000351513.2 0.053191 0.999907 ZFPM2 23414 __UNKNOWN__ __UNKNOWN__ 8 106813518 106813518 __UNKNOWN__ Missense_Mutation SNP C C G rs11993776 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:106813518C>G ENST00000407775.2 + 8 1458 c.1208C>G c.(1207-1209)gCa>gGa p.A403G ZFPM2_ENST00000520492.1_Missense_Mutation_p.A271G|ZFPM2_ENST00000517361.1_Missense_Mutation_p.A271G|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.A134G NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 403 NA A -> G (in dbSNP:rs11993776). {ECO:0000269|PubMed:24549039}. blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412) cytoplasm (GO:0005737)|nucleoplasm (GO:0005654) DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270) NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) TCTCCAAGTGCAACTGAAGAC 0.517 NA G||| 968 0.193291 0.441 0.1023 5008 , , NA 19753 0.131 NA 0.1024 False NA ,,, NA NA NA 2504 0.0808 NA NA NA NA 0 G GLY/ALA 1423,2563 257,909,827 87 86 86 1208 4 0 8 dbSNP_120 86 787,7573 40,707,3433 yes missense ZFPM2 NM_012082.3 60 297,1616,4260 GG,GC,CC 9.4139,35.6999,17.9005 benign 403/1152 106813518 2210,10136 1993 4180 6173 SO:0001583 missense AF119334 CCDS47908.1 8q23 2013-01-10 2012-11-27 ENSG00000169946 ENSG00000169946 23414 Zinc fingers, C2H2-type, Zinc fingers, C2HC-type containing 16700 protein-coding gene gene with protein product 603693 zinc finger protein, multitype 2 NA 9927675, 10438528 Standard NM_012082 NA Approved FOG2, hFOG-2, ZNF89B, ZC2HC11B uc003ymd.3 Q8WW38 OTTHUMG00000164818 ENST00000407775.2:c.1208C>G chr8.hg19:g.106813518C>G ENSP00000384179:p.Ala403Gly NA Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5 hg19 CCDS47908.1 0.02 8.48175 GTGxAAC COVERED 410 0.18772893772893773 209 0.4247967479674797 34 0.09392265193370165 83 0.1451048951048951 84 0.11081794195250659 G 0.020 -1.443220 0.01089 0.356999 0.094139 ENSG00000169946 ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472 T;T;T;T 0.19532 2.14;2.63;2.63;3.84 5.87 4.01 0.46588 . 0.152514 0.64402 N 0.000017 T 0.00012 0.0000 N 0.00926 -1.1 0.58432 P 8.000000000008E-6 B 0.02656 0.0 B 0.01281 0.0 T 0.46965 -0.9153 9 0.06625 T 0.88 . 13.3304 0.60483 0.0:0.388:0.4991:0.1129 rs11993776;rs57100171;rs11993776 403 Q8WW38 FOG2_HUMAN G 403;271;271;134 ENSP00000384179:A403G;ENSP00000430757:A271G;ENSP00000428720:A271G;ENSP00000367733:A134G ENSP00000367733:A134G A + 2 0 ZFPM2 106882694 1.000000 0.71417 0.024000 0.17045 0.590000 0.36582 4.021000 0.57196 0.318000 0.23185 -0.120000 0.15030 GCA NOVEL ZFPM2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000380614.1 2 18.960395 KEEP 0 0 0 63 2228 CC 1 1 0 + 7 60 258 0 0 15.458349 229 60 8562 366 ENST00000407775.2 0.029661 1 OXR1 55074 __UNKNOWN__ __UNKNOWN__ 8 107670090 107670090 __UNKNOWN__ 5'UTR SNP T T G rs28921372 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:107670090T>G ENST00000312046.6 + 0 9 OXR1_ENST00000445937.1_Intron|OXR1_ENST00000517566.2_Intron|OXR1_ENST00000497705.1_Intron|OXR1_ENST00000531443.1_Intron|OXR1_ENST00000452423.2_Intron|OXR1_ENST00000442977.2_Intron NM_181354.4 NP_851999.2 Q8N573 OXR1_HUMAN oxidation resistance 1 NA NA adult walking behavior (GO:0007628)|cellular response to hydroperoxide (GO:0071447)|negative regulation of neuron apoptotic process (GO:0043524)|response to oxidative stress (GO:0006979) mitochondrion (GO:0005739)|nucleolus (GO:0005730) oxidoreductase activity (GO:0016491) NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 31 OV - Ovarian serous cystadenocarcinoma(57;1.81e-09) CCGCCTCTTGTGAGGCGCGCG 0.697 NA T||| 1029 0.205471 0.1467 0.1499 5008 , , NA 9897 0.3343 NA 0.1521 False NA ,,, NA NA NA 2504 0.2464 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF309387 CCDS6304.2, CCDS47909.1, CCDS56547.1, CCDS56548.1, CCDS56549.1, CCDS56550.1 8q23 2013-03-14 ENSG00000164830 ENSG00000164830 55074 15822 protein-coding gene gene with protein product TBC/LysM-associated domain containing 3 605609 NA 11114193 Standard NM_181354 NM_181354 NA Approved TLDC3 uc011lht.2 Q8N573 OTTHUMG00000167682 ENST00000312046.6:c.-125T>G chr8.hg19:g.107670090T>G NA A6NK11|A8KA34|B3KXL1|B7Z402|B7Z8N5|D3HIS6|Q3LIB5|Q6ZVK9|Q8N8V0|Q9H266|Q9NWC7 hg19 CCDS6304.2 0.02 7.42886 TTGxGAG COVERED NOVEL OXR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000343925.2 2 21.661419 KEEP 0 0 0 72 2157 TT 1 1 0 + 6 60 220 0 0 13.899489 146 60 5137 274 ENST00000312046.6 0.039474 1 OXR1 55074 __UNKNOWN__ __UNKNOWN__ 8 107670289 107670289 __UNKNOWN__ Silent SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:107670289C>T ENST00000312046.6 + 1 208 c.75C>T c.(73-75)ttC>ttT p.F25F OXR1_ENST00000445937.1_Intron|OXR1_ENST00000517566.2_Intron|OXR1_ENST00000497705.1_Intron|OXR1_ENST00000531443.1_Intron|OXR1_ENST00000452423.2_Intron|OXR1_ENST00000442977.2_Intron NM_181354.4 NP_851999.2 Q8N573 OXR1_HUMAN oxidation resistance 1 0 NA adult walking behavior (GO:0007628)|cellular response to hydroperoxide (GO:0071447)|negative regulation of neuron apoptotic process (GO:0043524)|response to oxidative stress (GO:0006979) mitochondrion (GO:0005739)|nucleolus (GO:0005730) oxidoreductase activity (GO:0016491) NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 31 OV - Ovarian serous cystadenocarcinoma(57;1.81e-09) TGTTGGGGTTCGGGGGCGGCG 0.726 NA NA NA NA NA NA NA NA NA NA NA 0 4 8 7 NA NA 8 NA 107670289 625 1506 2131 SO:0001819 synonymous_variant AF309387 CCDS6304.2, CCDS47909.1, CCDS56547.1, CCDS56548.1, CCDS56549.1, CCDS56550.1 8q23 2013-03-14 ENSG00000164830 ENSG00000164830 55074 15822 protein-coding gene gene with protein product TBC/LysM-associated domain containing 3 605609 NA 11114193 Standard NM_181354 NM_181354 NA Approved TLDC3 uc011lht.2 Q8N573 OTTHUMG00000167682 ENST00000312046.6:c.75C>T chr8.hg19:g.107670289C>T NA A6NK11|A8KA34|B3KXL1|B7Z402|B7Z8N5|D3HIS6|Q3LIB5|Q6ZVK9|Q8N8V0|Q9H266|Q9NWC7 hg19 CCDS6304.2 0.02 14.895741 GTTxGGG COVERED NOVEL OXR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000343925.2 2 93.259007 KEEP 0 0 0 310 10583 CC 1 1 0 + 18 60 642 0 0 41.129832 372 60 12990 942 ENST00000312046.6 0.046154 1 ABRA 137735 __UNKNOWN__ __UNKNOWN__ 8 107782395 107782395 __UNKNOWN__ Silent SNP G G A rs11996466 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:107782395G>A ENST00000311955.3 - 1 78 c.24C>T c.(22-24)agC>agT p.S8S NM_139166.4 NP_631905.1 actin-binding Rho activating protein NA NA breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2) 27 OV - Ovarian serous cystadenocarcinoma(57;3.83e-09) GGCCCTCCCCGCTTTCCTTTT 0.602 NA G||| 2208 0.440895 0.5643 0.304 5008 , , NA 16988 0.5188 NA 0.3579 False NA ,,, NA NA NA 2504 0.3763 NA NA NA NA 0 G 2307,2097 630,1047,525 37 42 40 24 0 0.2 8 dbSNP_120 40 3019,5577 533,1953,1812 no coding-synonymous ABRA NM_139166.4 1163,3000,2337 AA,AG,GG 35.121,47.6158,40.9692 8/382 107782395 5326,7674 2202 4298 6500 SO:0001819 synonymous_variant AF503617 CCDS6305.1 8q23.1 2012-02-06 ENSG00000174429 ENSG00000174429 137735 30655 protein-coding gene gene with protein product striated muscle activator of Rho-dependent signaling 609747 NA 11983702 Standard NM_139166 NM_139166 NA Approved STARS uc003ymm.4 Q8N0Z2 OTTHUMG00000164809 ENST00000311955.3:c.24C>T chr8.hg19:g.107782395G>A NA hg19 CCDS6305.1 0.02 11.872923 CCCxCTT COVERED NOVEL ABRA-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000380416.1 1 23.587146 KEEP 0 1 30 89 2970 GG 1 1 0 - 11 60 358 0 0 20.265675 315 60 11031 500 ENST00000311955.3 0.033742 1 ENY2 56943 __UNKNOWN__ __UNKNOWN__ 8 110348249 110348249 __UNKNOWN__ Intron SNP A A T rs2980571 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:110348249A>T ENST00000520147.1 + 2 63 ENY2_ENST00000521688.1_Intron|ENY2_ENST00000521662.1_Intron|ENY2_ENST00000522407.1_Intron enhancer of yellow 2 homolog (Drosophila) NA NA endometrium(2)|large_intestine(1)|lung(1) 4 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;9.05e-13) GAAATGTATCACCCCTTCAGT 0.338 NA A||| 1171 0.233826 0.1346 0.3862 5008 , , NA 16574 0.3621 NA 0.1471 False NA ,,, NA NA NA 2504 0.2168 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS43762.1, CCDS55270.1 8q23.1 2005-08-16 ENSG00000120533 ENSG00000120533 56943 24449 protein-coding gene gene with protein product NA 11438676 Standard NM_020189 NM_020189 NA Approved DC6, FLJ20480 uc003ynd.3 Q9NPA8 OTTHUMG00000164933 ENST00000520147.1:c.-9-108A>T chr8.hg19:g.110348249A>T NA hg19 0.02 17.129446 ATCxCCC COVERED NOVEL ENY2-012 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000381006.1 2 22.20028 KEEP 0 1 32 85 2675 AA 1 1 0 + 16 60 575 0 0 35.677101 402 60 14549 601 ENST00000520147.1 0.038278 1 PKHD1L1 93035 __UNKNOWN__ __UNKNOWN__ 8 110420384 110420384 __UNKNOWN__ Silent SNP T T C rs13254245 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:110420384T>C ENST00000378402.5 + 18 2024 c.1920T>C c.(1918-1920)aaT>aaC p.N640N NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 640 NA immune response (GO:0006955) cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021) receptor activity (GO:0004872) NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TCACACTGAATTGGGATGGGA 0.438 NA HNSCC(38;0.096) T||| 1573 0.314097 0.1551 0.4741 5008 , , NA 14681 0.3929 NA 0.3111 False NA ,,, NA NA NA 2504 0.3374 NA NA NA NA 0 T 729,3143 76,577,1283 118 119 119 1920 -8.1 0 8 dbSNP_121 119 2633,5641 428,1777,1932 no coding-synonymous PKHD1L1 NM_177531.4 504,2354,3215 CC,CT,TT 31.8226,18.8275,27.6799 640/4244 110420384 3362,8784 1936 4137 6073 SO:0001819 synonymous_variant AY219181 CCDS47911.1 8q23 2003-03-28 ENSG00000205038 ENSG00000205038 93035 20313 protein-coding gene gene with protein product 607843 NA 12620974 Standard NM_177531 NM_177531 NA Approved uc003yne.3 Q86WI1 OTTHUMG00000164934 ENST00000378402.5:c.1920T>C chr8.hg19:g.110420384T>C NA Q567P2|Q9UF27 hg19 CCDS47911.1 0.02 19.944141 GAAxTGG COVERED NOVEL PKHD1L1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000381017.1 0 6.222302 KEEP 0 3 107 58 1838 TT 1 1 0 + 19 60 748 0 0 50.10602 409 60 15135 630 ENST00000378402.5 0.044393 1 PKHD1L1 93035 __UNKNOWN__ __UNKNOWN__ 8 110530774 110530774 __UNKNOWN__ Intron SNP T T C rs1783169 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:110530774T>C ENST00000378402.5 + 73 12135 NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 NA NA immune response (GO:0006955) cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021) receptor activity (GO:0004872) NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) AGGAATGCAATTACCAAATCC 0.448 NA HNSCC(38;0.096) T||| 1117 0.223043 0.1831 0.3732 5008 , , NA 18427 0.3185 NA 0.1282 False NA ,,, NA NA NA 2504 0.1697 NA NA NA NA 0 T 745,3011 72,601,1205 21 19 20 0.4 0 8 dbSNP_89 20 1192,7026 92,1008,3009 no intron PKHD1L1 NM_177531.4 164,1609,4214 CC,CT,TT 14.5047,19.8349,16.1767 110530774 1937,10037 1878 4109 5987 SO:0001627 intron_variant AY219181 CCDS47911.1 8q23 2003-03-28 ENSG00000205038 ENSG00000205038 93035 20313 protein-coding gene gene with protein product 607843 NA 12620974 Standard NM_177531 NM_177531 NA Approved uc003yne.3 Q86WI1 OTTHUMG00000164934 ENST00000378402.5:c.12031+37T>C chr8.hg19:g.110530774T>C NA Q567P2|Q9UF27 hg19 CCDS47911.1 0.02 6.830055 CAAxTAC COVERED NOVEL PKHD1L1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000381017.1 1 2.708198 KEEP 0 0 0 9 290 AT 0.992708 0.992708 0 + 7 60 264 0 0 17.41827 145 60 5186 180 ENST00000378402.5 0.046053 1 SYBU 55638 __UNKNOWN__ __UNKNOWN__ 8 110655907 110655907 __UNKNOWN__ Intron SNP G G A rs6985646 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:110655907G>A ENST00000533895.1 - 4 351 SYBU_ENST00000422135.1_Intron|SYBU_ENST00000533171.1_Intron|SYBU_ENST00000528647.1_Intron|SYBU_ENST00000533065.1_Intron|SYBU_ENST00000433638.1_Intron|SYBU_ENST00000532779.1_Intron|SYBU_ENST00000528331.1_Intron|SYBU_ENST00000276646.9_Intron|SYBU_ENST00000440310.1_Intron|SYBU_ENST00000408889.3_Intron|SYBU_ENST00000424158.2_Intron|SYBU_ENST00000408908.2_Intron|SYBU_ENST00000419099.1_Intron|SYBU_ENST00000446070.2_Intron Q9NX95 SYBU_HUMAN syntabulin (syntaxin-interacting) NA NA regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178) cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|dense body (GO:0097433)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 30 TTAAAAATGCGTAACAGTAat 0.343 NA A||| 1888 0.376997 0.5772 0.2493 5008 , , NA 21760 0.5079 NA 0.2197 False NA ,,, NA NA NA 2504 0.2239 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB040905 CCDS43763.1, CCDS43764.1, CCDS47912.1, CCDS55271.1 8q23.2 2010-08-27 ENSG00000147642 55638 26011 protein-coding gene gene with protein product syntaphilin-like 611568 NA 17611281, 16750881, 16157705, 15656992, 15459722 Standard NM_017786 NM_001099743 NA Approved FLJ20366, GOLSYN, KIAA1472, OCSYN, SNPHL uc003ynj.4 Q9NX95 ENST00000533895.1:c.25-749C>T chr8.hg19:g.110655907G>A NA A8K354|B3KQX3|B3KU61|Q5R1T1|Q5R1T2|Q5R1T3|Q5Y2M6|Q8ND49|Q8TCR6|Q96D80|Q9P256 hg19 CCDS43763.1 0.02 4.393137 TGCxTAA COVERED NOVEL SYBU-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000385489.1 1 12.038582 KEEP 0 0 0 40 1384 GG 1 0.999995 0 - 5 60 176 0 0 11.119953 107 60 3903 187 ENST00000533895.1 0.044643 0.999995 SYBU 55638 __UNKNOWN__ __UNKNOWN__ 8 110656272 110656272 __UNKNOWN__ Intron SNP C C T rs7817360 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:110656272C>T ENST00000533895.1 - 3 351 SYBU_ENST00000422135.1_Intron|SYBU_ENST00000533171.1_Intron|SYBU_ENST00000528647.1_Intron|SYBU_ENST00000533065.1_Intron|SYBU_ENST00000433638.1_Intron|SYBU_ENST00000532779.1_Intron|SYBU_ENST00000528331.1_Intron|SYBU_ENST00000276646.9_Intron|SYBU_ENST00000440310.1_Intron|SYBU_ENST00000408889.3_Intron|SYBU_ENST00000424158.2_Intron|SYBU_ENST00000408908.2_Intron|SYBU_ENST00000419099.1_Intron|SYBU_ENST00000446070.2_Intron Q9NX95 SYBU_HUMAN syntabulin (syntaxin-interacting) NA NA regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178) cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|dense body (GO:0097433)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 30 TTCCTTCCACCGGCTTACCAG 0.507 NA C||| 770 0.153754 0.444 0.0504 5008 , , NA 20074 0.1121 NA 0.0129 False NA ,,, NA NA NA 2504 0.0225 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB040905 CCDS43763.1, CCDS43764.1, CCDS47912.1, CCDS55271.1 8q23.2 2010-08-27 ENSG00000147642 55638 26011 protein-coding gene gene with protein product syntaphilin-like 611568 NA 17611281, 16750881, 16157705, 15656992, 15459722 Standard NM_017786 NM_001099743 NA Approved FLJ20366, GOLSYN, KIAA1472, OCSYN, SNPHL uc003ynj.4 Q9NX95 ENST00000533895.1:c.24+592G>A chr8.hg19:g.110656272C>T NA A8K354|B3KQX3|B3KU61|Q5R1T1|Q5R1T2|Q5R1T3|Q5Y2M6|Q8ND49|Q8TCR6|Q96D80|Q9P256 hg19 CCDS43763.1 0.02 9.091593 CACxGGC COVERED NOVEL SYBU-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000385489.1 2 36.371054 KEEP 0 0 0 121 4122 CC 1 1 0 - 12 60 436 0 0 29.333336 199 60 7022 415 ENST00000533895.1 0.056872 1 SYBU 55638 __UNKNOWN__ __UNKNOWN__ 8 110656338 110656338 __UNKNOWN__ Intron SNP A A G rs77109424 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:110656338A>G ENST00000533895.1 - 3 351 SYBU_ENST00000422135.1_Intron|SYBU_ENST00000533171.1_Intron|SYBU_ENST00000528647.1_Intron|SYBU_ENST00000533065.1_Intron|SYBU_ENST00000433638.1_Intron|SYBU_ENST00000532779.1_Intron|SYBU_ENST00000528331.1_Intron|SYBU_ENST00000276646.9_Intron|SYBU_ENST00000440310.1_Intron|SYBU_ENST00000408889.3_Intron|SYBU_ENST00000424158.2_Intron|SYBU_ENST00000408908.2_Intron|SYBU_ENST00000419099.1_Intron|SYBU_ENST00000446070.2_Intron Q9NX95 SYBU_HUMAN syntabulin (syntaxin-interacting) NA NA regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178) cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|dense body (GO:0097433)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 30 GCATAAATTGAAGGGTAAACC 0.587 NA A||| 124 0.0247604 0.0 0.0 5008 , , NA 16602 0.1052 NA 0.002 False NA ,,, NA NA NA 2504 0.0164 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB040905 CCDS43763.1, CCDS43764.1, CCDS47912.1, CCDS55271.1 8q23.2 2010-08-27 ENSG00000147642 55638 26011 protein-coding gene gene with protein product syntaphilin-like 611568 NA 17611281, 16750881, 16157705, 15656992, 15459722 Standard NM_017786 NM_001099743 NA Approved FLJ20366, GOLSYN, KIAA1472, OCSYN, SNPHL uc003ynj.4 Q9NX95 ENST00000533895.1:c.24+526T>C chr8.hg19:g.110656338A>G NA A8K354|B3KQX3|B3KU61|Q5R1T1|Q5R1T2|Q5R1T3|Q5Y2M6|Q8ND49|Q8TCR6|Q96D80|Q9P256 hg19 CCDS43763.1 0.02 13.931864 TTGxAGG COVERED NOVEL SYBU-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000385489.1 3 53.85731 KEEP 0 0 0 179 5562 AA 1 1 0 - 19 60 706 0 0 48.114168 311 60 11173 668 ENST00000533895.1 0.057576 1 RP11-422N16.3 0 __UNKNOWN__ __UNKNOWN__ 8 110656396 110656396 __UNKNOWN__ Silent SNP G G T rs7817773 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:110656396G>T ENST00000499579.1 + 1 53 c.42G>T c.(40-42)cgG>cgT p.R14R SYBU_ENST00000422135.1_Intron|SYBU_ENST00000533171.1_Intron|SYBU_ENST00000528647.1_Intron|SYBU_ENST00000533895.1_Intron|SYBU_ENST00000533065.1_Intron|SYBU_ENST00000433638.1_Intron|SYBU_ENST00000532779.1_Intron|SYBU_ENST00000528331.1_Intron|SYBU_ENST00000276646.9_Intron|SYBU_ENST00000440310.1_Intron|SYBU_ENST00000408889.3_Intron|SYBU_ENST00000424158.2_Intron|SYBU_ENST00000408908.2_Intron|SYBU_ENST00000419099.1_Intron|SYBU_ENST00000446070.2_Intron NA NA NA ACTCTACCCGGGGGCCGCCAG 0.637 NA G||| 392 0.0782748 0.1853 0.0159 5008 , , NA 14116 0.1121 NA 0.004 False NA ,,, NA NA NA 2504 0.0194 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001819 synonymous_variant NA NA NA NA ENST00000499579.1:c.42G>T chr8.hg19:g.110656396G>T NA hg19 0.02 10.371801 CCGxGGG COVERED NOVEL RP11-422N16.3-001 PUTATIVE basic|appris_principal|exp_conf protein_coding NA protein_coding OTTHUMT00000385523.1 1 42.66817 KEEP 0 0 0 142 5013 GG 1 1 0 + 12 60 442 0 0 28.612784 258 60 9407 547 ENST00000499579.1 0.044444 1 RP11-422N16.3 0 __UNKNOWN__ __UNKNOWN__ 8 110659537 110659537 __UNKNOWN__ 3'UTR SNP G G A rs61702273 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:110659537G>A ENST00000499579.1 + 0 2299 SYBU_ENST00000422135.1_Intron|SYBU_ENST00000533171.1_Intron|SYBU_ENST00000533895.1_Intron|SYBU_ENST00000433638.1_Intron|SYBU_ENST00000532779.1_Intron|SYBU_ENST00000528331.1_Intron|SYBU_ENST00000408889.3_Intron|SYBU_ENST00000424158.2_Intron|SYBU_ENST00000408908.2_Intron|SYBU_ENST00000419099.1_Intron|SYBU_ENST00000446070.2_Intron NA NA NA GTTCTCGGAGGTGGAGGTTTT 0.468 NA G||| 730 0.145767 0.4153 0.0476 5008 , , NA 19006 0.1121 NA 0.0129 False NA ,,, NA NA NA 2504 0.0225 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant NA NA NA NA ENST00000499579.1:c.*1961G>A chr8.hg19:g.110659537G>A NA hg19 0.02 7.98091 GAGxTGG COVERED NOVEL RP11-422N16.3-001 PUTATIVE basic|appris_principal|exp_conf protein_coding NA protein_coding OTTHUMT00000385523.1 3 22.570186 KEEP 0 0 0 75 2537 GG 1 1 0 + 9 60 316 0 0 19.496983 216 60 7665 351 ENST00000499579.1 0.04 1 SYBU 55638 __UNKNOWN__ __UNKNOWN__ 8 110703413 110703413 __UNKNOWN__ Intron SNP C C T rs3134332 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:110703413C>T ENST00000422135.1 - 1 459 SYBU_ENST00000532779.1_Intron|SYBU_ENST00000419099.1_Intron NM_001099744.1 NP_001093214.1 Q9NX95 SYBU_HUMAN syntabulin (syntaxin-interacting) NA NA regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178) cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|dense body (GO:0097433)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 30 TGTGCATCGCCGAGCACCCTG 0.577 NA C||| 921 0.183906 0.118 0.1455 5008 , , NA 15733 0.3929 NA 0.1034 False NA ,,, NA NA NA 2504 0.1677 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB040905 CCDS43763.1, CCDS43764.1, CCDS47912.1, CCDS55271.1 8q23.2 2010-08-27 ENSG00000147642 55638 26011 protein-coding gene gene with protein product syntaphilin-like 611568 NA 17611281, 16750881, 16157705, 15656992, 15459722 Standard NM_017786 NM_001099743 NA Approved FLJ20366, GOLSYN, KIAA1472, OCSYN, SNPHL uc003ynj.4 Q9NX95 ENST00000422135.1:c.56+148G>A chr8.hg19:g.110703413C>T NA A8K354|B3KQX3|B3KU61|Q5R1T1|Q5R1T2|Q5R1T3|Q5Y2M6|Q8ND49|Q8TCR6|Q96D80|Q9P256 hg19 CCDS47912.1 0.02 6.209257 CGCxGAG COVERED NOVEL SYBU-204 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000385501.1 1 11.436215 KEEP 0 0 0 38 1286 CC 1 1 0 - 10 60 360 0 0 23.536057 190 60 6766 290 ENST00000422135.1 0.05 1 CSMD3 114788 __UNKNOWN__ __UNKNOWN__ 8 113299275 113299275 __UNKNOWN__ Intron SNP A A G rs10505181 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:113299275A>G ENST00000297405.5 - 58 9576 CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000343508.3_Intron|CSMD3_ENST00000352409.3_Intron NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 NA NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 AATATATTTAATTTCTGCTTG 0.378 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) A||| 628 0.125399 0.0514 0.1484 5008 , , NA 16263 0.0972 NA 0.2336 False NA ,,, NA NA NA 2504 0.1268 NA NA NA NA 0 A ,, 397,4009 198.1+/-222.0 16,365,1822 99 94 96 ,, -8.9 0 8 dbSNP_119 96 2183,6417 371.8+/-336.4 295,1593,2412 no intron,intron,intron CSMD3 NM_052900.2,NM_198123.1,NM_198124.1 ,, 311,1958,4234 GG,GA,AA 25.3837,9.0104,19.837 ,, ,, 113299275 2580,10426 2203 4300 6503 SO:0001627 intron_variant AY210419 CCDS6315.1, CCDS6316.2, CCDS6317.1 8q23.3 2007-01-06 ENSG00000164796 ENSG00000164796 114788 19291 protein-coding gene gene with protein product 608399 NA Standard NM_052900 NM_052900 NA Approved uc003ynu.3 Q7Z407 OTTHUMG00000157027 ENST00000297405.5:c.9331+17T>C chr8.hg19:g.113299275A>G NA Q96PZ3 hg19 CCDS6315.1 0.02 6.235233 TTAxTTT COVERED NOVEL CSMD3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347141.1 1 7.824303 KEEP 0 0 0 26 854 AA 0.999957 0.999957 0 - 6 60 224 0 0 13.604743 191 60 6848 256 ENST00000297405.5 0.030457 1 CSMD3 114788 __UNKNOWN__ __UNKNOWN__ 8 113347769 113347769 __UNKNOWN__ Intron SNP A A T rs62514406 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:113347769A>T ENST00000297405.5 - 45 7264 CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000343508.3_Intron|CSMD3_ENST00000352409.3_Intron NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 NA NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TTTGAACCGTATTTAATAAAA 0.333 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) A||| 646 0.128994 0.0666 0.1484 5008 , , NA 15402 0.0972 NA 0.2326 False NA ,,, NA NA NA 2504 0.1258 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY210419 CCDS6315.1, CCDS6316.2, CCDS6317.1 8q23.3 2007-01-06 ENSG00000164796 ENSG00000164796 114788 19291 protein-coding gene gene with protein product 608399 NA Standard NM_052900 NM_052900 NA Approved uc003ynu.3 Q7Z407 OTTHUMG00000157027 ENST00000297405.5:c.7020-66T>A chr8.hg19:g.113347769A>T NA Q96PZ3 hg19 CCDS6315.1 0.02 7.981803 CGTxTTT COVERED NOVEL CSMD3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347141.1 1 5.113774 KEEP 0 0 0 17 496 AA 0.999366 0.999366 0 - 9 60 318 0 0 20.121781 193 60 7081 236 ENST00000297405.5 0.044554 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 115041813 115041813 __UNKNOWN__ IGR SNP T T G rs4612364 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:115041813T>G NA NA Y_RNA (78586 upstream) : RP11-267L5.1 (252488 downstream) NA NA NA ATCTATAATTTTATCTGGTAC 0.313 NA T||| 1183 0.236222 0.0061 0.2997 5008 , , NA 19171 0.5486 NA 0.1471 False NA ,,, NA NA NA 2504 0.272 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr8.hg19:g.115041813T>G NA hg19 0.02 4.431357 ATTxTAT COVERED NOVEL 0 2 7.523406 KEEP 16 0 0 25 817 TT 0.999863 0.999861 0 7 60 259 0 0 17.681152 112 60 4049 196 0.058824 0.999998 EIF3H 8667 __UNKNOWN__ __UNKNOWN__ 8 117656121 117656121 __UNKNOWN__ 3'UTR SNP C C T rs75651664 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:117656121C>T ENST00000521861.1 - 0 2206 NM_003756.2 NP_003747.1 eukaryotic translation initiation factor 3, subunit H NA NA large_intestine(2)|lung(10)|skin(1) 13 all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172) TGGTGATGCACAAACAGCAAA 0.363 NA C||| 378 0.0754792 0.0061 0.1801 5008 , , NA 15659 0.1478 NA 0.0398 False NA ,,, NA NA NA 2504 0.0573 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U54559 CCDS6319.1 8q24.11 2007-07-27 2007-07-27 2007-07-27 ENSG00000147677 ENSG00000147677 8667 3273 protein-coding gene gene with protein product 603912 eukaryotic translation initiation factor 3, subunit 3 gamma, 40kDa EIF3S3 NA 9341143 Standard NM_003756 NM_003756 NA Approved eIF3-gamma, eIF3-p40, eIF3h uc003yoa.3 O15372 OTTHUMG00000164919 ENST00000521861.1:c.*1124G>A chr8.hg19:g.117656121C>T NA hg19 CCDS6319.1 0.02 1.716403 GCAxAAA COVERED NOVEL EIF3H-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000380912.1 1 5.718296 KEEP 0 0 0 19 665 CC 0.99986 0.999628 0 - 6 60 217 0 0 15.053047 82 60 3059 123 ENST00000521861.1 0.068182 0.999768 EIF3H 8667 __UNKNOWN__ __UNKNOWN__ 8 117669343 117669343 __UNKNOWN__ Intron SNP C C T rs77386399 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:117669343C>T ENST00000276682.4 - 6 1366 EIF3H_ENST00000521861.1_Intron eukaryotic translation initiation factor 3, subunit H NA NA large_intestine(2)|lung(10)|skin(1) 13 all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172) CTTCTACAGTCCACATGGCAA 0.428 NA C||| 377 0.0752796 0.0045 0.1801 5008 , , NA 17843 0.1498 NA 0.0398 False NA ,,, NA NA NA 2504 0.0562 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U54559 CCDS6319.1 8q24.11 2007-07-27 2007-07-27 2007-07-27 ENSG00000147677 ENSG00000147677 8667 3273 protein-coding gene gene with protein product 603912 eukaryotic translation initiation factor 3, subunit 3 gamma, 40kDa EIF3S3 NA 9341143 Standard NM_003756 NM_003756 NA Approved eIF3-gamma, eIF3-p40, eIF3h uc003yoa.3 O15372 OTTHUMG00000164919 ENST00000276682.4:c.599+110G>A chr8.hg19:g.117669343C>T NA hg19 0.02 8.187795 AGTxCAC COVERED NOVEL EIF3H-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000380913.1 1 25.581128 KEEP 0 0 0 85 2921 CC 1 1 0 - 7 60 256 0 0 15.419062 217 60 8140 375 ENST00000276682.4 0.03125 1 EIF3H 8667 __UNKNOWN__ __UNKNOWN__ 8 117749358 117749358 __UNKNOWN__ Intron SNP T T A rs77803704 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:117749358T>A ENST00000276682.4 - 4 941 EIF3H_ENST00000521861.1_Intron eukaryotic translation initiation factor 3, subunit H NA NA large_intestine(2)|lung(10)|skin(1) 13 all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172) ATGATTTTTTTAAAAATTCAC 0.318 NA T||| 650 0.129792 0.1929 0.1988 5008 , , NA 14714 0.1567 NA 0.0408 False NA ,,, NA NA NA 2504 0.0593 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U54559 CCDS6319.1 8q24.11 2007-07-27 2007-07-27 2007-07-27 ENSG00000147677 ENSG00000147677 8667 3273 protein-coding gene gene with protein product 603912 eukaryotic translation initiation factor 3, subunit 3 gamma, 40kDa EIF3S3 NA 9341143 Standard NM_003756 NM_003756 NA Approved eIF3-gamma, eIF3-p40, eIF3h uc003yoa.3 O15372 OTTHUMG00000164919 ENST00000276682.4:c.175-10947A>T chr8.hg19:g.117749358T>A NA hg19 0.02 1.965172 TTTxAAA COVERED NOVEL EIF3H-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000380913.1 0 3.608355 KEEP 0 0 0 12 324 TT 0.993634 0.990815 0 - 4 60 146 0 0 9.826723 67 60 2363 87 ENST00000276682.4 0.056338 0.997163 UTP23 84294 __UNKNOWN__ __UNKNOWN__ 8 117786616 117786616 __UNKNOWN__ 3'UTR SNP G G A rs12547063 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:117786616G>A ENST00000309822.2 + 0 3386 UTP23_ENST00000357148.3_Intron|UTP23_ENST00000520733.1_Intron|UTP23_ENST00000517820.1_Intron NM_032334.2 NP_115710.2 Q9BRU9 UTP23_HUMAN UTP23, small subunit (SSU) processome component, homolog (yeast) NA NA rRNA processing (GO:0006364) nucleus (GO:0005634)|small-subunit processome (GO:0032040) poly(A) RNA binding (GO:0044822) breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 12 CTGAATCTGCGTAAAGCAAGA 0.308 NA G||| 641 0.127995 0.1929 0.1988 5008 , , NA 15838 0.1508 NA 0.0408 False NA ,,, NA NA NA 2504 0.0562 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS6320.1 8q24.11 2008-06-12 2008-06-12 2008-06-12 ENSG00000147679 84294 28224 protein-coding gene gene with protein product chromosome 8 open reading frame 53 C8orf53 NA 16769905 Standard NM_032334 NM_032334 NA Approved MGC14595 uc003yoc.3 Q9BRU9 ENST00000309822.2:c.*2535G>A chr8.hg19:g.117786616G>A NA B2RE25|Q96NJ8 hg19 CCDS6320.1 0.02 6.037018 TGCxTAA COVERED NOVEL UTP23-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000381173.1 1 12.339935 KEEP 0 0 0 41 1429 GG 1 1 0 + 8 60 298 0 0 19.090934 189 70 6820 280 ENST00000309822.2 0.040609 1 COLEC10 10584 __UNKNOWN__ __UNKNOWN__ 8 120118617 120118617 __UNKNOWN__ 3'UTR SNP A A G rs1064556 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:120118617A>G ENST00000332843.2 + 0 1062 NM_006438.3 NP_006429.2 Q9Y6Z7 COL10_HUMAN collectin sub-family member 10 (C-type lectin) NA NA collagen trimer (GO:0005581)|cytoplasm (GO:0005737)|extracellular region (GO:0005576) mannose binding (GO:0005537) endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 21 all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234) STAD - Stomach adenocarcinoma(47;0.00113) CACATGGTATATTATTGACCC 0.358 NA G||| 1023 0.204273 0.5197 0.0793 5008 , , NA 22654 0.1944 NA 0.0606 False NA ,,, NA NA NA 2504 0.0245 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB002631 CCDS6327.1 8q23-q24.1 2007-12-19 ENSG00000184374 10584 Collectins 2220 protein-coding gene gene with protein product 607620 NA 10224141 Standard NM_006438 NA Approved CL-L1 uc003yoo.3 Q9Y6Z7 ENST00000332843.2:c.*187A>G chr8.hg19:g.120118617A>G NA Q3SYH6|Q6UW19 hg19 CCDS6327.1 0.02 6.886484 TATxTTA COVERED NOVEL COLEC10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000381225.1 2 3.911243 KEEP 0 0 0 13 397 AA 0.994391 0.994391 0 + 6 60 223 0 0 14.107657 151 60 5355 187 ENST00000332843.2 0.038217 1 COL14A1 7373 __UNKNOWN__ __UNKNOWN__ 8 121211847 121211847 __UNKNOWN__ Intron SNP C C T rs2326483 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:121211847C>T ENST00000297848.3 + 8 1147 COL14A1_ENST00000537875.1_Intron|COL14A1_ENST00000247781.3_Intron|COL14A1_ENST00000432943.2_Intron|COL14A1_ENST00000309791.4_Intron NM_021110.1 NP_066933.1 collagen, type XIV, alpha 1 NA NA NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) AGGGCATAGACCCACAACCAC 0.423 NA C||| 1408 0.28115 0.2088 0.3559 5008 , , NA 19947 0.4702 NA 0.2038 False NA ,,, NA NA NA 2504 0.2106 NA NA NA NA 0 C 976,3430 360.9+/-315.4 122,732,1349 100 84 90 -0.1 0 8 dbSNP_100 90 1843,6757 328.6+/-318.4 187,1469,2644 no intron COL14A1 NM_021110.1 309,2201,3993 TT,TC,CC 21.4302,22.1516,21.6746 121211847 2819,10187 2203 4300 6503 SO:0001627 intron_variant CCDS34938.1 8q23 2013-02-11 2008-02-04 ENSG00000187955 ENSG00000187955 7373 Collagens, Fibronectin type III domain containing 2191 protein-coding gene gene with protein product 120324 undulin UND NA 1716629, 9427527 Standard NM_021110 NM_021110 NA Approved uc003yox.4 Q05707 OTTHUMG00000149877 ENST00000297848.3:c.877+42C>T chr8.hg19:g.121211847C>T NA hg19 CCDS34938.1 0.02 7.739437 AGAxCCA COVERED NOVEL COL14A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000313657.2 0 14.445411 KEEP 0 0 0 48 1696 CC 1 1 0 + 7 60 248 0 0 14.397433 234 60 8496 334 ENST00000297848.3 0.029046 1 ATAD2 29028 __UNKNOWN__ __UNKNOWN__ 8 124364344 124364344 __UNKNOWN__ Intron SNP T T G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:124364344T>G ENST00000521903.1 - 15 2011 ATAD2_ENST00000287394.5_Intron Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 NA NA ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351) extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) ATP binding (GO:0005524)|ATPase activity (GO:0016887) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) GTGGCGGGGGTGGTGGTGATG 0.562 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC019909 CCDS6343.1 8q24.13 2014-01-21 2007-02-08 ENSG00000156802 ENSG00000156802 29028 ATPases / AAA-type 30123 protein-coding gene gene with protein product 611941 NA 12477932 Standard NM_014109 NM_014109 NA Approved PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137 uc003yqh.4 Q6PL18 OTTHUMG00000165090 ENST00000521903.1:c.373-2683A>C chr8.hg19:g.124364344T>G NA Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5 hg19 0.02 -0.070033 GGGxGGT UNCOVERED NOVEL ATAD2-002 PUTATIVE upstream_uORF|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000381767.2 4 2.707149 KEEP 0 0 0 9 269 TT 0.99254 0.053733 0 - 4 60 86 0 0 8.087177 4 60 129 21 ENST00000521903.1 0.5 0.054137 KLHL38 340359 __UNKNOWN__ __UNKNOWN__ 8 124658203 124658203 __UNKNOWN__ Missense_Mutation SNP T T C rs72711231 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:124658203T>C ENST00000325995.7 - 3 1545 c.1522A>G c.(1522-1524)Aaa>Gaa p.K508E CTD-2552K11.2_ENST00000524355.1_RNA NM_001081675.2 NP_001075144.2 Q2WGJ6 KLH38_HUMAN kelch-like family member 38 508 NA breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1) 38 CTCCGGTCTTTCATGTCCGCA 0.522 NA T||| 563 0.11242 0.0477 0.0692 5008 , , NA 20602 0.2143 NA 0.0348 False NA ,,, NA NA NA 2504 0.2055 NA NA NA NA 0 T GLU/LYS 171,4011 4,163,1924 83 91 88 1522 5.2 1 8 dbSNP_130 88 320,8144 8,304,3920 yes missense KLHL38 NM_001081675.2 56 12,467,5844 CC,CT,TT 3.7807,4.089,3.8827 possibly-damaging 508/582 124658203 491,12155 2091 4232 6323 SO:0001583 missense CCDS43766.1 8q24.13 2013-02-22 2013-02-22 ENSG00000175946 ENSG00000175946 340359 Kelch-like, BTB/POZ domain containing 34435 protein-coding gene gene with protein product kelch-like 38 (Drosophila) NA Standard NM_001081675 NA Approved C8ORFK36 uc003yqs.1 Q2WGJ6 OTTHUMG00000164983 ENST00000325995.7:c.1522A>G chr8.hg19:g.124658203T>C ENSP00000321475:p.Lys508Glu NA A0PK12 hg19 CCDS43766.1 0.02 15.110911 CTTxCAT COVERED 204 0.09340659340659341 29 0.05894308943089431 21 0.058011049723756904 126 0.2202797202797203 28 0.036939313984168866 T 15.81 2.943702 0.53079 0.04089 0.037807 ENSG00000175946 ENST00000325995 T 0.66280 -0.2 5.18 5.18 0.71444 Kelch-type beta propeller (1); 0.137965 0.64402 D 0.000005 T 0.00039 0.0001 L 0.60455 1.87 0.21355 P 0.999710004 P 0.36789 0.57 B 0.35114 0.196 T 0.06162 -1.0842 9 0.23891 T 0.37 . 15.0289 0.71691 0.0:0.0:0.0:1.0 . 508 Q2WGJ6 KLH38_HUMAN E 508 ENSP00000321475:K508E ENSP00000321475:K508E K - 1 0 KLHL38 124727384 1.000000 0.71417 0.992000 0.48379 0.814000 0.46013 6.186000 0.72026 1.963000 0.57068 0.374000 0.22700 AAA NOVEL KLHL38-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000381288.1 3 43.930173 KEEP 0 0 0 146 4635 TT 1 1 0 - 11 60 409 0 0 24.886704 342 60 12348 623 ENST00000325995.7 0.031161 1 KLHL38 340359 __UNKNOWN__ __UNKNOWN__ 8 124663895 124663895 __UNKNOWN__ Silent SNP G G A rs16898689 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:124663895G>A ENST00000325995.7 - 1 1295 c.1272C>T c.(1270-1272)ccC>ccT p.P424P CTD-2552K11.2_ENST00000524355.1_RNA NM_001081675.2 NP_001075144.2 Q2WGJ6 KLH38_HUMAN kelch-like family member 38 424 NA breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1) 38 CAGCGACTGCGGGGTGGAGCA 0.552 NA G||| 916 0.182907 0.2284 0.1311 5008 , , NA 21736 0.2202 NA 0.0686 False NA ,,, NA NA NA 2504 0.2372 NA NA NA NA 0 G 754,3296 80,594,1351 94 93 94 1272 -0.5 1 8 dbSNP_123 94 568,7802 21,526,3638 no coding-synonymous KLHL38 NM_001081675.2 101,1120,4989 AA,AG,GG 6.7861,18.6173,10.6441 424/582 124663895 1322,11098 2025 4185 6210 SO:0001819 synonymous_variant CCDS43766.1 8q24.13 2013-02-22 2013-02-22 ENSG00000175946 ENSG00000175946 340359 Kelch-like, BTB/POZ domain containing 34435 protein-coding gene gene with protein product kelch-like 38 (Drosophila) NA Standard NM_001081675 NA Approved C8ORFK36 uc003yqs.1 Q2WGJ6 OTTHUMG00000164983 ENST00000325995.7:c.1272C>T chr8.hg19:g.124663895G>A NA A0PK12 hg19 CCDS43766.1 0.02 17.599252 TGCxGGG COVERED NOVEL KLHL38-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000381288.1 3 25.791354 KEEP 0 1 32 97 3320 GG 1 1 0 - 21 60 753 0 0 49.394487 390 60 13866 657 ENST00000325995.7 0.051095 1 KLHL38 340359 __UNKNOWN__ __UNKNOWN__ 8 124663987 124663987 __UNKNOWN__ Missense_Mutation SNP C C G rs16898691 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:124663987C>G ENST00000325995.7 - 1 1203 c.1180G>C c.(1180-1182)Ggg>Cgg p.G394R CTD-2552K11.2_ENST00000524355.1_RNA NM_001081675.2 NP_001075144.2 Q2WGJ6 KLH38_HUMAN kelch-like family member 38 394 NA G -> R (in dbSNP:rs16898691). breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1) 38 AGCTCCTGCCCTTCTCCAATC 0.602 NA C||| 583 0.116414 0.0461 0.0836 5008 , , NA 21826 0.2192 NA 0.0408 False NA ,,, NA NA NA 2504 0.2065 NA NA NA NA 0 C ARG/GLY 164,3860 4,156,1852 65 65 65 1180 3.2 0.8 8 dbSNP_123 65 370,7990 14,342,3824 yes missense KLHL38 NM_001081675.2 125 18,498,5676 GG,GC,CC 4.4258,4.0755,4.312 probably-damaging 394/582 124663987 534,11850 2012 4180 6192 SO:0001583 missense CCDS43766.1 8q24.13 2013-02-22 2013-02-22 ENSG00000175946 ENSG00000175946 340359 Kelch-like, BTB/POZ domain containing 34435 protein-coding gene gene with protein product kelch-like 38 (Drosophila) NA Standard NM_001081675 NA Approved C8ORFK36 uc003yqs.1 Q2WGJ6 OTTHUMG00000164983 ENST00000325995.7:c.1180G>C chr8.hg19:g.124663987C>G ENSP00000321475:p.Gly394Arg NA A0PK12 hg19 CCDS43766.1 0.02 12.60971 GCCxTTC COVERED 211 0.09661172161172162 25 0.0508130081300813 26 0.0718232044198895 128 0.22377622377622378 32 0.04221635883905013 C 10.04 1.240664 0.22711 0.040755 0.044258 ENSG00000175946 ENST00000325995 T 0.71103 -0.54 5.18 3.18 0.36537 Kelch-type beta propeller (1); 0.367273 0.33691 N 0.004655 T 0.00073 0.0002 L 0.49778 1.585 0.39734 P 0.02834700000000001 B 0.02656 0.0 B 0.06405 0.002 T 0.06935 -1.0799 9 0.72032 D 0.01 . 5.0825 0.14664 0.0:0.3131:0.0:0.6869 rs16898691;rs52812544;rs16898691 394 Q2WGJ6 KLH38_HUMAN R 394 ENSP00000321475:G394R ENSP00000321475:G394R G - 1 0 KLHL38 124733168 0.978000 0.34361 0.777000 0.31699 0.732000 0.41865 3.219000 0.51200 0.571000 0.29365 0.561000 0.74099 GGG NOVEL KLHL38-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000381288.1 5 17.155399 KEEP 0 0 0 57 2020 CC 1 1 0 - 14 60 480 0 0 29.968093 296 60 10816 419 ENST00000325995.7 0.045161 1 FER1L6 654463 __UNKNOWN__ __UNKNOWN__ 8 124982215 124982215 __UNKNOWN__ Intron SNP G G A rs7008604 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:124982215G>A ENST00000522917.1 + 6 590 FER1L6_ENST00000399018.1_Intron NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like family member 6 NA NA integral component of membrane (GO:0016021) NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) CCACTCCAAGGACAGGATTCT 0.363 NA g||| 1713 0.342053 0.3654 0.2853 5008 , , NA 20928 0.374 NA 0.4215 False NA ,,, NA NA NA 2504 0.2362 NA NA NA NA 0 G 533,851 112,309,271 105 89 94 -0.9 0 8 dbSNP_116 94 1301,1881 270,761,560 no intron FER1L6 NM_001039112.2 382,1070,831 AA,AG,GG 40.8862,38.5116,40.1664 124982215 1834,2732 692 1591 2283 SO:0001627 intron_variant AB196633 CCDS43767.1 8q24.13 2014-06-27 2014-06-27 ENSG00000214814 ENSG00000214814 654463 28065 protein-coding gene gene with protein product fer-1-like 6 (C. elegans) NA Standard NM_001039112 NM_001039112 NA Approved C8ORFK23 uc003yqw.3 Q2WGJ9 OTTHUMG00000164998 ENST00000522917.1:c.385-60G>A chr8.hg19:g.124982215G>A NA hg19 CCDS43767.1 0.02 11.958089 AAGxACA COVERED NOVEL FER1L6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000381400.1 5 3.983431 KEEP 0 2 68 37 1277 GG 1 1 0 + 10 60 348 0 0 20.479404 295 60 10797 439 ENST00000522917.1 0.032787 1 FER1L6 654463 __UNKNOWN__ __UNKNOWN__ 8 124998278 124998278 __UNKNOWN__ Intron SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:124998278C>T ENST00000522917.1 + 12 1616 FER1L6_ENST00000399018.1_Intron|FER1L6-AS1_ENST00000518567.1_RNA NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like family member 6 NA NA integral component of membrane (GO:0016021) NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) AAAGCCAGTTCTGCCTAATAA 0.373 NA NA NA NA NA NA NA NA NA NA NA 0 44 43 43 NA NA 8 NA 124998278 1819 4089 5908 SO:0001627 intron_variant AB196633 CCDS43767.1 8q24.13 2014-06-27 2014-06-27 ENSG00000214814 ENSG00000214814 654463 28065 protein-coding gene gene with protein product fer-1-like 6 (C. elegans) NA Standard NM_001039112 NM_001039112 NA Approved C8ORFK23 uc003yqw.3 Q2WGJ9 OTTHUMG00000164998 ENST00000522917.1:c.1411-30C>T chr8.hg19:g.124998278C>T NA hg19 CCDS43767.1 0.02 4.672864 GTTxTGC COVERED NOVEL FER1L6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000381400.1 1 4.213197 KEEP 0 0 0 14 483 CC 0.995343 0.995343 0 + 5 60 193 0 0 12.368682 132 60 5026 168 ENST00000522917.1 0.036496 1 RP11-1082L8.3 0 __UNKNOWN__ __UNKNOWN__ 8 125861978 125861978 __UNKNOWN__ lincRNA SNP C C T rs7463566 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:125861978C>T ENST00000533496.1 - 0 154 NA NA NA tcatctttgcctcccaaagtg 0.428 NA C||| 2565 0.512181 0.3903 0.4856 5008 , , NA 15202 0.6607 NA 0.5189 False NA ,,, NA NA NA 2504 0.5358 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000533496.1: chr8.hg19:g.125861978C>T NA hg19 0.02 -0.043866 TGCxTCC UNCOVERED NOVEL RP11-1082L8.3-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000381819.1 3 2.708206 KEEP 0 0 0 9 300 CC 0.99254 0.023894 0 - 2 60 74 0 0 6.89281 3 60 108 16 ENST00000533496.1 0.4 0.024074 MYC 4609 __UNKNOWN__ __UNKNOWN__ 8 128751201 128751201 __UNKNOWN__ Silent SNP G G A rs2070582 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:128751201G>A ENST00000259523.6 + 2 1898 c.693G>A c.(691-693)ccG>ccA p.P231P MYC_ENST00000377970.2_Silent_p.P246P|MYC_ENST00000524013.1_Silent_p.P245P P01106 MYC_HUMAN v-myc avian myelocytomatosis viral oncogene homolog 231 NA branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular iron ion homeostasis (GO:0006879)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|chromosome organization (GO:0051276)|energy reserve metabolic process (GO:0006112)|fibroblast apoptotic process (GO:0044346)|gene expression (GO:0010467)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell division (GO:0051782)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|oxygen transport (GO:0015671)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of metanephric cap mesenchymal cell proliferation (GO:0090096)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of telomere maintenance (GO:0032204)|response to drug (GO:0042493)|response to gamma radiation (GO:0010332)|response to growth factor (GO:0070848)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179) nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234) DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein complex binding (GO:0032403)|repressing transcription factor binding (GO:0070491)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 16 all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185) Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22) Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151) KIRC - Kidney renal clear cell carcinoma(542;0.248) Nadroparin(DB08813) AGTCCTCCCCGCAGGGCAGCC 0.662 3 A, T IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@ Burkitt lymphoma, amplified in other cancers, B-CLL G||| 313 0.0625 0.1097 0.0159 5008 , , NA 14638 0.0734 NA 0.0268 False NA ,,, NA NA NA 2504 0.0573 NA NA NA Dom yes 8 8q24.12-q24.13 4609 v-myc myelocytomatosis viral oncogene homolog (avian) L, E 0 G 291,3731 10,271,1730 16 16 16 738 -7 0.7 8 dbSNP_96 16 174,7914 3,168,3873 no coding-synonymous MYC NM_002467.4 13,439,5603 AA,AG,GG 2.1513,7.2352,3.8398 246/455 128751201 465,11645 2011 4044 6055 SO:0001819 synonymous_variant CCDS6359.2 8q24 2013-07-09 2013-07-09 ENSG00000136997 ENSG00000136997 4609 Basic helix-loop-helix proteins 7553 protein-coding gene gene with protein product 190080 NA Standard NM_002467 NA Approved c-Myc, bHLHe39, MYCC uc003ysi.3 P01106 OTTHUMG00000128475 ENST00000259523.6:c.693G>A chr8.hg19:g.128751201G>A NA A8WFE7|P01107|Q14026 hg19 0.02 11.518499 CCCxCAG COVERED NOVEL MYC-002 PUTATIVE basic|appris_candidate_longest|exp_conf protein_coding NA protein_coding OTTHUMT00000250278.1 0 55.327565 KEEP 0 0 0 184 6335 GG 1 1 0 + 21 60 700 0 0 46.360753 300 60 10854 592 ENST00000259523.6 0.065421 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 8 129021179 129021179 __UNKNOWN__ IGR SNP G G A rs2114358 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:129021179G>A NA NA RNU1-106P (9639 upstream) : RNU4-25P (1448 downstream) NA NA NA CTTGCAGTAGGTTTTTGCAAG 0.408 NA G||| 3363 0.671526 0.7655 0.7147 5008 , , NA 19114 0.6944 NA 0.6233 False NA ,,, NA NA NA 2504 0.5399 NA NA NA NA 0 G 2270,866 816,638,114 171 143 152 -2.2 0 8 dbSNP_96 152 4272,2892 1277,1718,587 no intergenic 2093,2356,701 AA,AG,GG 40.3685,27.6148,36.4854 129021179 6542,3758 1568 3582 5150 SO:0001628 intergenic_variant NA NA NA NA chr8.hg19:g.129021179G>A NA hg19 0.02 6.486465 TAGxTTT COVERED NOVEL 0 0 8.232617 KEEP 0 3 96 61 2213 GG 1 1 0 11 60 401 0 0 28.047551 146 60 5379 296 0.070064 1 OC90 729330 __UNKNOWN__ __UNKNOWN__ 8 133045399 133045399 __UNKNOWN__ Missense_Mutation SNP A A G rs79332351 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:133045399A>G ENST00000254627.3 - 11 832 c.746T>C c.(745-747)aTa>aCa p.I249T OC90_ENST00000443356.2_Missense_Mutation_p.I265T|OC90_ENST00000603859.1_Missense_Mutation_p.I249T|OC90_ENST00000262283.5_Missense_Mutation_p.I461T NM_001080399.2 NP_001073868.2 Q02509 OC90_HUMAN otoconin 90 265 NA lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644) extracellular region (GO:0005576) calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623) NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1) 37 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805) TGTTGCAACTATCTCTGCAGA 0.428 NA A||| 93 0.0185703 0.0 0.0173 5008 , , NA 21498 0.0734 NA 0.003 False NA ,,, NA NA NA 2504 0.0041 NA NA NA NA 0 A THR/ILE 1,3723 0,1,1861 44 44 44 746 2.2 0.3 8 dbSNP_131 44 6,8204 0,6,4099 yes missense OC90 NM_001080399.2 89 0,7,5960 GG,GA,AA 0.0731,0.0269,0.0587 benign 249/478 133045399 7,11927 1862 4105 5967 SO:0001583 missense Z14310 CCDS47919.1 8q24.22 2011-03-01 ENSG00000253117 ENSG00000253117 729330 8100 protein-coding gene gene with protein product 601658 PLA2L NA 10329003, 9860971 Standard NM_001080399 NM_001080399 NA Approved uc011lix.1 Q02509 OTTHUMG00000164672 ENST00000254627.3:c.746T>C chr8.hg19:g.133045399A>G ENSP00000254627:p.Ile249Thr NA B4DNG8 hg19 CCDS47919.1 0.02 6.233058 ACTxTCT COVERED 45 0.020604395604395604 0 0.0 3 0.008287292817679558 39 0.06818181818181818 3 0.00395778364116095 A 8.451 0.853045 0.17106 2.69E-4 7.31E-4 ENSG00000253117;ENSG00000253117;ENSG00000258417 ENST00000254627;ENST00000443356;ENST00000262283 T;T;T 0.32515 1.46;1.48;1.45 4.53 2.16 0.27623 . 0.869730 0.10147 N 0.710102 T 0.01353 0.0044 L 0.32530 0.975 0.24333 N 0.994992 B;B 0.17465 0.022;0.007 B;B 0.16289 0.015;0.007 T 0.27773 -1.0064 10 0.12103 T 0.63 -1.8174 6.0822 0.19948 0.7988:0.0:0.2012:0.0 . 249;265 Q02509-2;Q02509 .;OC90_HUMAN T 249;265;461 ENSP00000254627:I249T;ENSP00000390050:I265T;ENSP00000262283:I461T ENSP00000254627:I249T I - 2 0 RP11-240B13.2;OC90 133114581 0.105000 0.21958 0.307000 0.25127 0.520000 0.34377 1.090000 0.30902 0.497000 0.27926 0.533000 0.62120 ATA NOVEL OC90-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000379693.1 2 6.919774 KEEP 0 0 0 23 701 AA 0.999892 0.999892 0 - 10 60 361 0 0 23.961867 176 60 6373 261 ENST00000254627.3 0.053763 1 HHLA1 10086 __UNKNOWN__ __UNKNOWN__ 8 133111307 133111307 __UNKNOWN__ Intron SNP C C G rs2469493 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:133111307C>G ENST00000434736.2 - 6 393 HHLA1_ENST00000414222.1_Intron C9JL84 HHLA1_HUMAN HERV-H LTR-associating 1 NA NA extracellular region (GO:0005576) endometrium(6)|kidney(1)|lung(2)|skin(1)|stomach(2) 12 AACTTCTTTGCACATGTGCTG 0.443 NA C||| 2947 0.588458 0.4123 0.7363 5008 , , NA 18567 0.4812 NA 0.7793 False NA ,,, NA NA NA 2504 0.636 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF110315 8q24 2011-03-01 ENSG00000132297 ENSG00000132297 10086 4904 protein-coding gene gene with protein product 604109 PLA2L NA 10329003 Standard XR_017860 NM_001145095 NA Approved uc011liy.1 C9JL84 OTTHUMG00000140390 ENST00000434736.2:c.308-98G>C chr8.hg19:g.133111307C>G NA hg19 0.02 4.29973 TTGxACA COVERED NOVEL HHLA1-001 NOVEL not_organism_supported|basic protein_coding NA protein_coding OTTHUMT00000277163.2 0 2.543724 KEEP 0 1 33 20 715 CC 0.999869 0.999869 0 - 6 60 228 0 0 15.025288 128 60 4883 182 ENST00000434736.2 0.044776 1 HHLA1 10086 __UNKNOWN__ __UNKNOWN__ 8 133112392 133112392 __UNKNOWN__ Intron SNP G G A rs1370568 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:133112392G>A ENST00000434736.2 - 5 333 HHLA1_ENST00000414222.1_Intron C9JL84 HHLA1_HUMAN HERV-H LTR-associating 1 NA NA extracellular region (GO:0005576) endometrium(6)|kidney(1)|lung(2)|skin(1)|stomach(2) 12 CTGGGAAGGAGACAGTTTTCA 0.537 NA A||| 3386 0.676118 0.643 0.8084 5008 , , NA 17288 0.4821 NA 0.834 False NA ,,, NA NA NA 2504 0.6646 NA NA NA NA 0 A 964,420 336,292,64 75 81 79 3.7 0 8 dbSNP_88 79 2708,474 1155,398,38 no intron HHLA1 NM_001145095.1 1491,690,102 AA,AG,GG 14.8963,30.3468,19.5795 133112392 3672,894 692 1591 2283 SO:0001627 intron_variant AF110315 8q24 2011-03-01 ENSG00000132297 ENSG00000132297 10086 4904 protein-coding gene gene with protein product 604109 PLA2L NA 10329003 Standard XR_017860 NM_001145095 NA Approved uc011liy.1 C9JL84 OTTHUMG00000140390 ENST00000434736.2:c.248-11C>T chr8.hg19:g.133112392G>A NA hg19 0.02 4.364612 GGAxACA COVERED NOVEL HHLA1-001 NOVEL not_organism_supported|basic protein_coding NA protein_coding OTTHUMT00000277163.2 1 5.718035 KEEP 0 0 0 19 672 GG 0.99986 0.99986 0 - 12 60 429 1 0 30.964637 125 60 4803 195 ENST00000434736.2 0.087591 1 HHLA1 10086 __UNKNOWN__ __UNKNOWN__ 8 133116251 133116251 __UNKNOWN__ Intron SNP C C T rs6998880 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:133116251C>T ENST00000434736.2 - 3 260 HHLA1_ENST00000414222.1_Intron C9JL84 HHLA1_HUMAN HERV-H LTR-associating 1 NA NA extracellular region (GO:0005576) endometrium(6)|kidney(1)|lung(2)|skin(1)|stomach(2) 12 GTGTTAGATGCGGAtataatc 0.408 NA T||| 2849 0.56889 0.6589 0.6527 5008 , , NA 18131 0.4603 NA 0.5795 False NA ,,, NA NA NA 2504 0.4888 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF110315 8q24 2011-03-01 ENSG00000132297 ENSG00000132297 10086 4904 protein-coding gene gene with protein product 604109 PLA2L NA 10329003 Standard XR_017860 NM_001145095 NA Approved uc011liy.1 C9JL84 OTTHUMG00000140390 ENST00000434736.2:c.174+68G>A chr8.hg19:g.133116251C>T NA hg19 0.02 4.689209 ATGxGGA COVERED NOVEL HHLA1-001 NOVEL not_organism_supported|basic protein_coding NA protein_coding OTTHUMT00000277163.2 1 3.912898 KEEP 0 0 0 13 468 CC 0.994391 0.994359 0 - 12 60 416 0 0 31.347846 89 60 3255 130 ENST00000434736.2 0.118812 0.999968 KCNQ3 3786 __UNKNOWN__ __UNKNOWN__ 8 133141083 133141083 __UNKNOWN__ 3'UTR SNP G G C rs34657341|rs10956640 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:133141083G>C ENST00000388996.4 - 0 3465 NM_004519.3 NP_004510.1 O43525 KCNQ3_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 3 NA NA axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268) axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076) delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249) NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 70 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939) GTTAATTGCTGGAGCGTTTTA 0.388 NA G||| 1271 0.253794 0.205 0.3285 5008 , , NA 18006 0.2222 NA 0.2296 False NA ,,, NA NA NA 2504 0.3241 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB208890 CCDS34943.1, CCDS56554.1 8q24 2012-07-05 ENSG00000184156 ENSG00000184156 3786 Potassium channels, Voltage-gated ion channels / Potassium channels 6297 protein-coding gene gene with protein product 602232 EBN2 NA 9425900, 16382104 Standard NM_004519 NM_004519 NA Approved Kv7.3 uc003ytj.3 O43525 OTTHUMG00000137472 ENST00000388996.4:c.*426C>G chr8.hg19:g.133141083G>C NA A2VCT8|B4DJY4|E7EQ89 hg19 CCDS34943.1 0.02 4.440431 GCTxGAG COVERED NOVEL KCNQ3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000268621.2 1 4.213796 KEEP 0 0 0 14 497 GG 0.995343 0.995341 0 - 5 60 189 1 0 12.299168 113 60 4164 151 ENST00000388996.4 0.042373 0.999998 KCNQ3 3786 __UNKNOWN__ __UNKNOWN__ 8 133141084 133141084 __UNKNOWN__ 3'UTR SNP G G T rs34657341|rs10956641 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:133141084G>T ENST00000388996.4 - 0 3464 NM_004519.3 NP_004510.1 O43525 KCNQ3_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 3 NA NA axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268) axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076) delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249) NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 70 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939) TTAATTGCTGGAGCGTTTTAC 0.388 NA G||| 1271 0.253794 0.205 0.3285 5008 , , NA 18015 0.2222 NA 0.2296 False NA ,,, NA NA NA 2504 0.3241 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB208890 CCDS34943.1, CCDS56554.1 8q24 2012-07-05 ENSG00000184156 ENSG00000184156 3786 Potassium channels, Voltage-gated ion channels / Potassium channels 6297 protein-coding gene gene with protein product 602232 EBN2 NA 9425900, 16382104 Standard NM_004519 NM_004519 NA Approved Kv7.3 uc003ytj.3 O43525 OTTHUMG00000137472 ENST00000388996.4:c.*425C>A chr8.hg19:g.133141084G>T NA A2VCT8|B4DJY4|E7EQ89 hg19 CCDS34943.1 0.02 4.041263 CTGxAGC COVERED NOVEL KCNQ3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000268621.2 1 4.213692 KEEP 0 0 0 14 487 GG 0.995343 0.995341 0 - 5 60 183 1 0 11.70016 113 60 4077 149 ENST00000388996.4 0.042373 0.999998 TMEM71 137835 __UNKNOWN__ __UNKNOWN__ 8 133722281 133722281 __UNKNOWN__ 3'UTR SNP T T C rs1048490 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:133722281T>C ENST00000356838.3 - 0 1905 TMEM71_ENST00000377901.4_3'UTR|TMEM71_ENST00000523829.1_3'UTR NM_144649.2 NP_653250.2 Q6P5X7 TMM71_HUMAN transmembrane protein 71 NA NA integral component of membrane (GO:0016021) endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2) 16 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) TTTGGCATTATCATTTCGAGC 0.264 NA C||| 2899 0.578874 0.9319 0.3646 5008 , , NA 15858 0.5992 NA 0.4513 False NA ,,, NA NA NA 2504 0.364 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK057631 CCDS6366.1, CCDS47921.1 8q24.22 2005-09-02 ENSG00000165071 137835 26572 protein-coding gene gene with protein product NA 12477932 Standard NM_144649 NM_144649 NA Approved FLJ33069 uc003ytn.3 Q6P5X7 ENST00000356838.3:c.*932A>G chr8.hg19:g.133722281T>C NA Q3KRC2|Q8WVZ4|Q96LX9 hg19 CCDS6366.1 0.02 6.246369 TTAxCAT COVERED NOVEL TMEM71-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000379591.1 1 6.01747 KEEP 0 0 0 20 621 TT 0.999863 0.999863 0 - 8 60 295 0 0 19.24953 165 60 6025 218 ENST00000356838.3 0.046243 1 TMEM71 137835 __UNKNOWN__ __UNKNOWN__ 8 133722669 133722669 __UNKNOWN__ 3'UTR SNP C C T rs2280871 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:133722669C>T ENST00000356838.3 - 0 1517 TMEM71_ENST00000377901.4_3'UTR|TMEM71_ENST00000523829.1_3'UTR NM_144649.2 NP_653250.2 Q6P5X7 TMM71_HUMAN transmembrane protein 71 NA NA integral component of membrane (GO:0016021) endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2) 16 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) ACGGTTACCACCTAATATCAA 0.323 NA T||| 1628 0.32508 0.7209 0.1628 5008 , , NA 19872 0.2996 NA 0.1243 False NA ,,, NA NA NA 2504 0.138 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK057631 CCDS6366.1, CCDS47921.1 8q24.22 2005-09-02 ENSG00000165071 137835 26572 protein-coding gene gene with protein product NA 12477932 Standard NM_144649 NM_144649 NA Approved FLJ33069 uc003ytn.3 Q6P5X7 ENST00000356838.3:c.*544G>A chr8.hg19:g.133722669C>T NA Q3KRC2|Q8WVZ4|Q96LX9 hg19 CCDS6366.1 0.02 8.736305 CCAxCTA COVERED NOVEL TMEM71-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000379591.1 0 3.61183 KEEP 0 0 0 12 433 CC 0.993634 0.993634 0 - 7 60 265 0 0 16.561468 200 60 7321 265 ENST00000356838.3 0.033816 1 TMEM71 137835 __UNKNOWN__ __UNKNOWN__ 8 133723166 133723166 __UNKNOWN__ 3'UTR SNP A A G rs1895807 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:133723166A>G ENST00000356838.3 - 0 1020 TMEM71_ENST00000377901.4_3'UTR|TMEM71_ENST00000523829.1_Missense_Mutation_p.W293R NM_144649.2 NP_653250.2 Q6P5X7 TMM71_HUMAN transmembrane protein 71 NA NA integral component of membrane (GO:0016021) endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2) 16 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) GACAATTTCCAGATATTCAGA 0.348 NA G||| 2899 0.578874 0.9319 0.3646 5008 , , NA 19301 0.5992 NA 0.4513 False NA ,,, NA NA NA 2504 0.364 NA NA NA NA 0 G , 3740,666 279.9+/-275.1 1587,566,50 84 89 87 , -7.1 0 8 dbSNP_92 87 4008,4592 600.3+/-394.2 950,2108,1242 no utr-3,utr-3 TMEM71 NM_001145153.1,NM_144649.2 , 2537,2674,1292 GG,GA,AA 46.6047,15.1158,40.4275 , , 133723166 7748,5258 2203 4300 6503 SO:0001624 3_prime_UTR_variant AK057631 CCDS6366.1, CCDS47921.1 8q24.22 2005-09-02 ENSG00000165071 137835 26572 protein-coding gene gene with protein product NA 12477932 Standard NM_144649 NM_144649 NA Approved FLJ33069 uc003ytn.3 Q6P5X7 ENST00000356838.3:c.*47T>C chr8.hg19:g.133723166A>G NA Q3KRC2|Q8WVZ4|Q96LX9 hg19 CCDS6366.1 0.02 29.022919 TCCxGAT COVERED 1311 0.6002747252747253 455 0.9247967479674797 146 0.40331491712707185 358 0.6258741258741258 352 0.46437994722955145 G 5.252 0.231929 0.09969 0.848842 0.466047 ENSG00000165071 ENST00000523829 . . . 4.76 -7.07 0.01563 . . . . . T 0.00012 0.0000 . . . 0.80722 P 0.0 . . . . . . T 0.14504 -1.0470 4 0.87932 D 0 . 11.2149 0.48821 0.7083:0.0:0.1914:0.1004 rs1895807;rs2280872;rs17680649;rs58309611;rs1895807 . . . R 293 . ENSP00000428228:W293R W - 1 0 TMEM71 133792348 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -3.027000 0.00639 -1.963000 0.01013 -1.632000 0.00781 TGG NOVEL TMEM71-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000379591.1 2 16.549525 KEEP 0 0 0 55 1742 AA 1 1 0 - 40 60 1386 0 0 90.387099 691 60 26152 982 ENST00000356838.3 0.05472 1 PHF20L1 51105 __UNKNOWN__ __UNKNOWN__ 8 133815871 133815871 __UNKNOWN__ Intron SNP A A G rs2272703 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:133815871A>G ENST00000395386.2 + 7 806 PHF20L1_ENST00000220847.7_Intron|PHF20L1_ENST00000395376.1_Intron|PHF20L1_ENST00000337920.4_Intron|PHF20L1_ENST00000395390.2_Intron|PHF20L1_ENST00000395379.1_Intron NM_016018.4 NP_057102.4 A8MW92 P20L1_HUMAN PHD finger protein 20-like 1 NA NA zinc ion binding (GO:0008270) breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2) 15 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) AGGTTATGCAATCTAACTCAT 0.289 NA A||| 912 0.182109 0.1316 0.1671 5008 , , NA 16852 0.3601 NA 0.1143 False NA ,,, NA NA NA 2504 0.1472 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF230666 CCDS6367.2, CCDS6368.1, CCDS75791.1 8q24.22 2014-03-24 ENSG00000129292 ENSG00000129292 51105 Tudor domain containing, Zinc fingers, PHD-type 24280 protein-coding gene gene with protein product tudor domain containing 20B NA 10810093, 24492612 Standard NM_016018 NM_016018 NA Approved CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B uc003ytt.3 A8MW92 OTTHUMG00000148656 ENST00000395386.2:c.508-193A>G chr8.hg19:g.133815871A>G NA A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381 hg19 CCDS6367.2 0.02 4.566293 GCAxTCT COVERED NOVEL PHF20L1-008 PUTATIVE basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000308949.3 0 5.717456 KEEP 0 0 0 19 607 AA 0.99986 0.999856 0 + 6 60 231 0 0 15.733028 109 60 4029 159 ENST00000395386.2 0.052174 0.999997 TG 7038 __UNKNOWN__ __UNKNOWN__ 8 133898757 133898757 __UNKNOWN__ Silent SNP A A G rs534691248 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:133898757A>G ENST00000220616.4 + 9 1180 c.1140A>G c.(1138-1140)tcA>tcG p.S380S TG_ENST00000377869.1_Silent_p.S380S NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 380 NA hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590) extracellular region (GO:0005576)|extracellular space (GO:0005615) NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) TTGGGACCTCAGGCTACTTCA 0.527 NA A||| 1 0.000199681 0.0 0.0 5008 , , NA 17684 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 130 133 132 NA NA 8 NA 133898757 2203 4300 6503 SO:0001819 synonymous_variant AU141420 CCDS34944.1 8q24 2012-10-02 ENSG00000042832 ENSG00000042832 7038 11764 protein-coding gene gene with protein product 188450 NA Standard NM_003235 NM_003235 NA Approved TGN, AITD3 uc003ytw.3 P01266 OTTHUMG00000164649 ENST00000220616.4:c.1140A>G chr8.hg19:g.133898757A>G NA O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3 hg19 CCDS34944.1 0.02 9.880001 CTCxGGC COVERED NOVEL TG-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000379606.1 3 14.444652 KEEP 0 0 0 48 1540 AA 1 1 0 + 10 60 329 0 0 19.323788 248 60 9268 375 ENST00000220616.4 0.03876 1 ST3GAL1 6482 __UNKNOWN__ __UNKNOWN__ 8 134468533 134468533 __UNKNOWN__ 3'UTR SNP G G T rs4736673 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:134468533G>T ENST00000319914.5 - 0 5524 ST3GAL1_ENST00000399640.2_3'UTR|ST3GAL1_ENST00000521180.1_3'UTR Q11201 SIA4A_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 1 NA NA carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein phosphorylation (GO:0006468)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281) extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020) beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836) endometrium(3)|large_intestine(2)|lung(11)|prostate(1) 17 all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.00721) TCACTGGGGAGACCCAGGGGG 0.567 NA OREG0019004 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) G||| 1387 0.276957 0.1483 0.1556 5008 , , NA 18405 0.5615 NA 0.2018 False NA ,,, NA NA NA 2504 0.3211 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L29555 CCDS6373.1 8q24.22 2013-03-01 2003-01-14 2005-02-07 ENSG00000008513 ENSG00000008513 6482 2.4.99.4 Sialyltransferases 10862 protein-coding gene gene with protein product ST3Gal I 607187 sialyltransferase 4A (beta-galactosidase alpha-2,3-sialytransferase) SIAT4A NA 10504389, 7655169 Standard NM_003033 NM_003033 NA Approved ST3O, SIATFL, ST3GalA.1 uc003yuk.2 Q11201 OTTHUMG00000164534 ENST00000319914.5:c.*3474C>A chr8.hg19:g.134468533G>T 1610 O60677|Q9UN51 hg19 CCDS6373.1 0.02 6.416823 GGAxACC COVERED NOVEL ST3GAL1-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000379132.1 1 24.378925 KEEP 0 0 0 81 2889 GG 1 1 0 - 11 60 407 0 0 28.433411 153 70 5704 309 ENST00000319914.5 0.067073 1 ST3GAL1 6482 __UNKNOWN__ __UNKNOWN__ 8 134469208 134469208 __UNKNOWN__ 3'UTR SNP C C G rs34844235 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:134469208C>G ENST00000319914.5 - 0 4849 ST3GAL1_ENST00000399640.2_3'UTR|ST3GAL1_ENST00000521180.1_3'UTR Q11201 SIA4A_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 1 NA NA carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein phosphorylation (GO:0006468)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281) extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020) beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836) endometrium(3)|large_intestine(2)|lung(11)|prostate(1) 17 all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.00721) CGTCACTTCCCTCCTTCACAC 0.483 NA C||| 1213 0.242212 0.0802 0.1225 5008 , , NA 21694 0.5456 NA 0.171 False NA ,,, NA NA NA 2504 0.3067 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L29555 CCDS6373.1 8q24.22 2013-03-01 2003-01-14 2005-02-07 ENSG00000008513 ENSG00000008513 6482 2.4.99.4 Sialyltransferases 10862 protein-coding gene gene with protein product ST3Gal I 607187 sialyltransferase 4A (beta-galactosidase alpha-2,3-sialytransferase) SIAT4A NA 10504389, 7655169 Standard NM_003033 NM_003033 NA Approved ST3O, SIATFL, ST3GalA.1 uc003yuk.2 Q11201 OTTHUMG00000164534 ENST00000319914.5:c.*2799G>C chr8.hg19:g.134469208C>G NA O60677|Q9UN51 hg19 CCDS6373.1 0.02 12.563803 TCCxTCC COVERED NOVEL ST3GAL1-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000379132.1 3 47.55474 KEEP 0 0 0 158 5673 CC 1 1 0 - 11 60 372 0 0 21.434638 327 60 12484 649 ENST00000319914.5 0.032544 1 ST3GAL1 6482 __UNKNOWN__ __UNKNOWN__ 8 134469536 134469536 __UNKNOWN__ 3'UTR SNP T T C rs11782689 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:134469536T>C ENST00000319914.5 - 0 4521 ST3GAL1_ENST00000399640.2_3'UTR|ST3GAL1_ENST00000521180.1_3'UTR Q11201 SIA4A_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 1 NA NA carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein phosphorylation (GO:0006468)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281) extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020) beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836) endometrium(3)|large_intestine(2)|lung(11)|prostate(1) 17 all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.00721) CATCTTCATGTTGAGGGACCT 0.542 NA T||| 1216 0.242812 0.0802 0.1225 5008 , , NA 20356 0.5476 NA 0.172 False NA ,,, NA NA NA 2504 0.3067 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L29555 CCDS6373.1 8q24.22 2013-03-01 2003-01-14 2005-02-07 ENSG00000008513 ENSG00000008513 6482 2.4.99.4 Sialyltransferases 10862 protein-coding gene gene with protein product ST3Gal I 607187 sialyltransferase 4A (beta-galactosidase alpha-2,3-sialytransferase) SIAT4A NA 10504389, 7655169 Standard NM_003033 NM_003033 NA Approved ST3O, SIATFL, ST3GalA.1 uc003yuk.2 Q11201 OTTHUMG00000164534 ENST00000319914.5:c.*2471A>G chr8.hg19:g.134469536T>C NA O60677|Q9UN51 hg19 CCDS6373.1 0.02 9.875596 ATGxTGA COVERED NOVEL ST3GAL1-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000379132.1 3 29.182961 KEEP 0 0 0 97 3060 TT 1 1 0 - 13 60 503 0 0 34.930929 212 60 7553 391 ENST00000319914.5 0.057778 1 ZFAT 57623 __UNKNOWN__ __UNKNOWN__ 8 135522364 135522364 __UNKNOWN__ Intron SNP A A G rs2289547 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:135522364A>G ENST00000377838.3 - 15 3536 ZFAT_ENST00000520356.1_Intron|ZFAT_ENST00000523399.1_Intron|ZFAT_ENST00000520727.1_Intron|ZFAT_ENST00000520214.1_Intron|ZFAT_ENST00000429442.2_Intron NM_001174157.1|NM_020863.3 NP_001167628.1|NP_065914.2 Q9P243 ZFAT_HUMAN zinc finger and AT hook domain containing NA NA hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712) cytoplasm (GO:0005737)|nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) TCCTGGGAGCACCCAGCAAGC 0.493 NA G||| 2400 0.479233 0.7587 0.5058 5008 , , NA 16565 0.3016 NA 0.4076 False NA ,,, NA NA NA 2504 0.3395 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC025423 CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1 8q24.23 2008-06-05 2008-01-25 2008-01-25 ENSG00000066827 ENSG00000066827 57623 Zinc fingers, C2H2-type 19899 protein-coding gene gene with protein product 610931 zinc finger protein 406 ZNF406, ZFAT1 NA 10819331, 18329245 Standard NM_001029939 NM_020863 NA Approved KIAA1485 uc003yup.3 Q9P243 OTTHUMG00000164321 ENST00000377838.3:c.3362-372T>C chr8.hg19:g.135522364A>G NA B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64 hg19 CCDS47924.1 0.02 4.681978 AGCxCCC COVERED 1039 0.4757326007326007 375 0.7621951219512195 173 0.47790055248618785 192 0.3356643356643357 299 0.3944591029023747 G 5.943 0.357933 0.11239 . . ENSG00000066827 ENST00000521673 . . . 3.59 -7.19 0.01500 . . . . . T 0.00012 0.0000 . . . 0.80722 P 0.0 . . . . . . T 0.22417 -1.0217 4 0.87932 D 0 . 4.4019 0.11390 0.2337:0.4874:0.084:0.1949 rs2289547;rs17688349 . . . A 21 . ENSP00000429600:V21A V - 2 0 ZFAT 135591546 0.000000 0.05858 0.000000 0.03702 0.006000 0.05464 -1.466000 0.02355 -3.886000 0.00095 -0.213000 0.12676 GTG NOVEL ZFAT-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000378272.1 1 3.84289 KEEP 0 1 38 26 746 AA 0.999988 0.999988 0 - 7 60 260 0 0 17.367873 129 60 4400 203 ENST00000377838.3 0.051471 1 ZFAT 57623 __UNKNOWN__ __UNKNOWN__ 8 135577533 135577533 __UNKNOWN__ Intron SNP T T G rs6988653 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:135577533T>G ENST00000377838.3 - 11 3151 ZFAT_ENST00000520356.1_Intron|ZFAT_ENST00000523399.1_Intron|ZFAT_ENST00000517307.1_Intron|ZFAT_ENST00000520727.1_Intron|ZFAT_ENST00000520214.1_Intron|ZFAT_ENST00000429442.2_Intron NM_001174157.1|NM_020863.3 NP_001167628.1|NP_065914.2 Q9P243 ZFAT_HUMAN zinc finger and AT hook domain containing NA NA hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712) cytoplasm (GO:0005737)|nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) AAGCAACGCCTTTTTTGTCTG 0.507 NA T||| 1625 0.324481 0.1936 0.3242 5008 , , NA 23724 0.5377 NA 0.2475 False NA ,,, NA NA NA 2504 0.3609 NA NA NA NA 0 T ,,,, 930,3122 202,526,1298 52 54 53 ,,,, -4.6 0 8 dbSNP_116 53 2256,6120 549,1158,2481 no intron,intron,intron,intron,intron ZFAT NM_001029939.3,NM_001167583.2,NM_001174157.1,NM_001174158.1,NM_020863.3 ,,,, 751,1684,3779 GG,GT,TT 26.9341,22.9516,25.6357 ,,,, ,,,, 135577533 3186,9242 2026 4188 6214 SO:0001627 intron_variant BC025423 CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1 8q24.23 2008-06-05 2008-01-25 2008-01-25 ENSG00000066827 ENSG00000066827 57623 Zinc fingers, C2H2-type 19899 protein-coding gene gene with protein product 610931 zinc finger protein 406 ZNF406, ZFAT1 NA 10819331, 18329245 Standard NM_001029939 NM_020863 NA Approved KIAA1485 uc003yup.3 Q9P243 OTTHUMG00000164321 ENST00000377838.3:c.2976+42A>C chr8.hg19:g.135577533T>G NA B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64 hg19 CCDS47924.1 0.02 5.999881 GCCxTTT COVERED NOVEL ZFAT-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000378272.1 1 5.416782 KEEP 0 0 0 18 582 TT 0.999859 0.999859 0 - 8 60 243 0 0 14.314525 159 60 5765 207 ENST00000377838.3 0.047904 1 ZFAT 57623 __UNKNOWN__ __UNKNOWN__ 8 135600716 135600716 __UNKNOWN__ Intron SNP C C G rs894358 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:135600716C>G ENST00000377838.3 - 9 2738 ZFAT_ENST00000520356.1_Intron|ZFAT_ENST00000523399.1_Intron|ZFAT_ENST00000517307.1_Intron|ZFAT_ENST00000520727.1_Intron|ZFAT_ENST00000520214.1_Intron|ZFAT_ENST00000429442.2_Intron NM_001174157.1|NM_020863.3 NP_001167628.1|NP_065914.2 Q9P243 ZFAT_HUMAN zinc finger and AT hook domain containing NA NA hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712) cytoplasm (GO:0005737)|nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) CATTGCTAAGCAGCACCCACA 0.448 NA C||| 2307 0.460663 0.3517 0.5994 5008 , , NA 21912 0.5446 NA 0.3976 False NA ,,, NA NA NA 2504 0.4877 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC025423 CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1 8q24.23 2008-06-05 2008-01-25 2008-01-25 ENSG00000066827 ENSG00000066827 57623 Zinc fingers, C2H2-type 19899 protein-coding gene gene with protein product 610931 zinc finger protein 406 ZNF406, ZFAT1 NA 10819331, 18329245 Standard NM_001029939 NM_020863 NA Approved KIAA1485 uc003yup.3 Q9P243 OTTHUMG00000164321 ENST00000377838.3:c.2564-78G>C chr8.hg19:g.135600716C>G NA B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64 hg19 CCDS47924.1 0.02 1.733749 AAGxAGC COVERED NOVEL ZFAT-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000378272.1 1 2.708862 KEEP 0 0 0 9 319 CC 0.99254 0.99222 0 - 6 60 214 0 0 14.814883 80 60 3023 98 ENST00000377838.3 0.069767 0.999678 ZFAT 57623 __UNKNOWN__ __UNKNOWN__ 8 135612745 135612745 __UNKNOWN__ Silent SNP A A G rs894344 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:135612745A>G ENST00000377838.3 - 7 2583 c.2409T>C c.(2407-2409)gaT>gaC p.D803D ZFAT_ENST00000520356.1_Silent_p.D791D|ZFAT_ENST00000523399.1_Silent_p.D741D|ZFAT-AS1_ENST00000505776.1_RNA|ZFAT_ENST00000520727.1_Silent_p.D791D|ZFAT_ENST00000520214.1_Silent_p.D791D|ZFAT_ENST00000429442.2_Silent_p.D791D NM_001174157.1|NM_020863.3 NP_001167628.1|NP_065914.2 Q9P243 ZFAT_HUMAN zinc finger and AT hook domain containing 803 NA hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712) cytoplasm (GO:0005737)|nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) AGTCACAGCCATCGGTGGGAC 0.453 NA G||| 2459 0.491014 0.4168 0.6225 5008 , , NA 16931 0.5486 NA 0.4274 False NA ,,, NA NA NA 2504 0.5041 NA NA NA NA 0 G ,,,, 1543,2401 313,917,742 180 178 178 2373,2373,2223,2373,2409 1.6 1 8 dbSNP_86 178 3340,4974 671,1998,1488 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous ZFAT NM_001029939.3,NM_001167583.2,NM_001174157.1,NM_001174158.1,NM_020863.3 ,,,, 984,2915,2230 GG,GA,AA 40.1732,39.1227,39.8352 ,,,, 791/1232,791/1232,741/1182,791/1146,803/1244 135612745 4883,7375 1972 4157 6129 SO:0001819 synonymous_variant BC025423 CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1 8q24.23 2008-06-05 2008-01-25 2008-01-25 ENSG00000066827 ENSG00000066827 57623 Zinc fingers, C2H2-type 19899 protein-coding gene gene with protein product 610931 zinc finger protein 406 ZNF406, ZFAT1 NA 10819331, 18329245 Standard NM_001029939 NM_020863 NA Approved KIAA1485 uc003yup.3 Q9P243 OTTHUMG00000164321 ENST00000377838.3:c.2409T>C chr8.hg19:g.135612745A>G NA B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64 hg19 CCDS47924.1 0.02 19.001868 GCCxTCG COVERED NOVEL ZFAT-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000378272.1 1 22.266753 KEEP 0 0 0 74 2349 AA 1 1 0 - 24 60 816 0 0 52.273518 431 60 15805 641 ENST00000377838.3 0.052747 1 ZFAT 57623 __UNKNOWN__ __UNKNOWN__ 8 135614967 135614967 __UNKNOWN__ Missense_Mutation SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:135614967G>A ENST00000377838.3 - 6 1169 c.995C>T c.(994-996)tCg>tTg p.S332L ZFAT_ENST00000520356.1_Missense_Mutation_p.S320L|ZFAT_ENST00000523399.1_Missense_Mutation_p.S270L|ZFAT_ENST00000520727.1_Missense_Mutation_p.S320L|ZFAT_ENST00000520214.1_Missense_Mutation_p.S320L|ZFAT_ENST00000429442.2_Missense_Mutation_p.S320L NM_001174157.1|NM_020863.3 NP_001167628.1|NP_065914.2 Q9P243 ZFAT_HUMAN zinc finger and AT hook domain containing 332 NA hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712) cytoplasm (GO:0005737)|nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) GCAGGTGAACGAGCAATAGTC 0.557 NA NA NA NA NA NA NA NA NA NA NA 0 63 69 67 NA NA 8 NA 135614967 2106 4230 6336 SO:0001583 missense BC025423 CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1 8q24.23 2008-06-05 2008-01-25 2008-01-25 ENSG00000066827 ENSG00000066827 57623 Zinc fingers, C2H2-type 19899 protein-coding gene gene with protein product 610931 zinc finger protein 406 ZNF406, ZFAT1 NA 10819331, 18329245 Standard NM_001029939 NM_020863 NA Approved KIAA1485 uc003yup.3 Q9P243 OTTHUMG00000164321 ENST00000377838.3:c.995C>T chr8.hg19:g.135614967G>A ENSP00000367069:p.Ser332Leu NA B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64 hg19 CCDS47924.1 0.02 8.585282 AACxAGC COVERED . . . . . . . . . . G 10.78 1.446564 0.25987 . . ENSG00000066827 ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399;ENST00000398946 T;T;T;T;T;T 0.16073 2.37;3.14;2.37;3.14;3.14;2.37 6.04 4.02 0.46733 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1); 1.028360 0.07684 N 0.937521 T 0.24736 0.0600 L 0.43554 1.36 0.09310 N 1 P;D;P;P 0.63880 0.765;0.993;0.789;0.824 B;P;B;B 0.50270 0.265;0.636;0.128;0.278 T 0.13737 -1.0498 10 0.62326 D 0.03 -5.3562 11.1329 0.48358 0.0781:0.1344:0.7876:0.0 . 270;320;320;332 E9PER3;E9PBN4;Q9P243-3;Q9P243 .;.;.;ZFAT_HUMAN L 320;320;320;332;320;320;270;320 ENSP00000427879:S320L;ENSP00000427831:S320L;ENSP00000394501:S320L;ENSP00000367069:S332L;ENSP00000428483:S320L;ENSP00000429091:S270L ENSP00000326997:S320L S - 2 0 ZFAT 135684149 0.990000 0.36364 0.054000 0.19295 0.473000 0.32948 6.522000 0.73783 2.873000 0.98535 0.563000 0.77884 TCG NOVEL ZFAT-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000378272.1 0 6.320238 KEEP 0 0 0 21 714 GG 0.999869 0.999869 0 - 12 60 441 0 0 28.990281 235 60 8567 298 ENST00000377838.3 0.048583 1 ZFAT 57623 __UNKNOWN__ __UNKNOWN__ 8 135614972 135614972 __UNKNOWN__ Silent SNP A A G rs3739422 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:135614972A>G ENST00000377838.3 - 6 1164 c.990T>C c.(988-990)taT>taC p.Y330Y ZFAT_ENST00000520356.1_Silent_p.Y318Y|ZFAT_ENST00000523399.1_Silent_p.Y268Y|ZFAT_ENST00000520727.1_Silent_p.Y318Y|ZFAT_ENST00000520214.1_Silent_p.Y318Y|ZFAT_ENST00000429442.2_Silent_p.Y318Y NM_001174157.1|NM_020863.3 NP_001167628.1|NP_065914.2 Q9P243 ZFAT_HUMAN zinc finger and AT hook domain containing 330 NA hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712) cytoplasm (GO:0005737)|nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) TGAACGAGCAATAGTCGCAGG 0.557 NA A||| 1936 0.386581 0.2859 0.3948 5008 , , NA 18510 0.5476 NA 0.2813 False NA ,,, NA NA NA 2504 0.4591 NA NA NA NA 0 A ,,,, 1043,3155 123,797,1179 61 68 66 954,954,804,954,990 3.2 0.3 8 dbSNP_107 66 2308,6140 306,1696,2222 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous ZFAT NM_001029939.3,NM_001167583.2,NM_001174157.1,NM_001174158.1,NM_020863.3 ,,,, 429,2493,3401 GG,GA,AA 27.3201,24.8452,26.4985 ,,,, 318/1232,318/1232,268/1182,318/1146,330/1244 135614972 3351,9295 2099 4224 6323 SO:0001819 synonymous_variant BC025423 CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1 8q24.23 2008-06-05 2008-01-25 2008-01-25 ENSG00000066827 ENSG00000066827 57623 Zinc fingers, C2H2-type 19899 protein-coding gene gene with protein product 610931 zinc finger protein 406 ZNF406, ZFAT1 NA 10819331, 18329245 Standard NM_001029939 NM_020863 NA Approved KIAA1485 uc003yup.3 Q9P243 OTTHUMG00000164321 ENST00000377838.3:c.990T>C chr8.hg19:g.135614972A>G NA B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64 hg19 CCDS47924.1 0.02 9.118586 GCAxTAG COVERED NOVEL ZFAT-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000378272.1 0 6.618195 KEEP 0 0 0 22 667 AA 0.999879 0.999879 0 - 11 60 418 0 0 27.620281 231 60 8479 292 ENST00000377838.3 0.045455 1 KHDRBS3 10656 __UNKNOWN__ __UNKNOWN__ 8 136659195 136659195 __UNKNOWN__ Intron SNP C C T rs28621864 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:136659195C>T ENST00000355849.5 + 9 1359 KHDRBS3_ENST00000520981.1_Intron NM_006558.1 NP_006549.1 O75525 KHDR3_HUMAN KH domain containing, RNA binding, signal transduction associated 3 NA NA regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723) NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 26 all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.247) CTGTGGGATTCATGGCAGTGA 0.423 NA C||| 1952 0.389776 0.1377 0.4611 5008 , , NA 17953 0.4524 NA 0.4592 False NA ,,, NA NA NA 2504 0.544 NA NA NA NA 0 C 890,3516 343.1+/-307.5 88,714,1401 87 77 80 1.1 0 8 dbSNP_125 80 3995,4605 553.9+/-386.4 923,2149,1228 no intron KHDRBS3 NM_006558.1 1011,2863,2629 TT,TC,CC 46.4535,20.1997,37.5596 136659195 4885,8121 2203 4300 6503 SO:0001627 intron_variant AF069681 CCDS6374.1 8q24.23 2008-05-15 ENSG00000131773 ENSG00000131773 10656 18117 protein-coding gene gene with protein product 610421 NA 10332027, 10564820 Standard XR_242372 NA Approved T-STAR, Etle, etoile, SALP, SLM2, SLM-2 uc003yuv.3 O75525 OTTHUMG00000164164 ENST00000355849.5:c.950-41C>T chr8.hg19:g.136659195C>T NA Q6NUL8|Q9UPA8 hg19 CCDS6374.1 0.02 21.325347 ATTxATG COVERED NOVEL KHDRBS3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000377529.1 2 4.584713 KEEP 0 2 62 37 1303 CC 1 1 0 + 24 60 842 0 0 53.199124 518 60 19499 665 ENST00000355849.5 0.04428 1 COL22A1 169044 __UNKNOWN__ __UNKNOWN__ 8 139642974 139642974 __UNKNOWN__ Silent SNP T T C rs4131277 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:139642974T>C ENST00000303045.6 - 50 4073 c.3627A>G c.(3625-3627)gcA>gcG p.A1209A COL22A1_ENST00000435777.1_Silent_p.A1189A|COL22A1_ENST00000341807.4_5'UTR NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1209 Collagen-like 11.|Gly-rich.|Pro-rich. NA extracellular matrix organization (GO:0030198) collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578) breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CAGCAGCTCCTGCAATTCCAT 0.463 NA HNSCC(7;0.00092) C||| 1312 0.261981 0.5439 0.2522 5008 , , NA 20306 0.1974 NA 0.0795 False NA ,,, NA NA NA 2504 0.1421 NA NA NA NA 0 C 2074,2332 603.9+/-390.2 484,1106,613 131 130 130 3627 -11.3 0 8 dbSNP_108 130 834,7766 781.4+/-407.6 50,734,3516 no coding-synonymous COL22A1 NM_152888.1 534,1840,4129 CC,CT,TT 9.6977,47.0722,22.3589 1209/1627 139642974 2908,10098 2203 4300 6503 SO:0001819 synonymous_variant AF406780 CCDS6376.1 8q24.3 2013-01-16 ENSG00000169436 ENSG00000169436 169044 Collagens 22989 protein-coding gene gene with protein product 610026 NA Standard XM_291257 NM_152888 NA Approved uc003yvd.3 Q8NFW1 OTTHUMG00000150035 ENST00000303045.6:c.3627A>G chr8.hg19:g.139642974T>C NA B7ZMH0|C9K0G4|Q8IVT9 hg19 CCDS6376.1 0.02 7.264573 TCCxGCA COVERED NOVEL COL22A1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000315905.2 0 6.319782 KEEP 0 0 0 21 680 TT 0.999869 0.999869 0 - 7 60 240 0 0 13.782768 220 60 8278 319 ENST00000303045.6 0.030837 1 COL22A1 169044 __UNKNOWN__ __UNKNOWN__ 8 139734242 139734242 __UNKNOWN__ Intron SNP G G A rs4319142 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:139734242G>A ENST00000303045.6 - 26 2748 COL22A1_ENST00000435777.1_Intron|COL22A1_ENST00000341807.4_Intron NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 NA NA extracellular matrix organization (GO:0030198) collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578) breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CTGTGTTTTGGGTTCCCAAAC 0.498 NA HNSCC(7;0.00092) G||| 838 0.167332 0.2716 0.1455 5008 , , NA 16868 0.2073 NA 0.0527 False NA ,,, NA NA NA 2504 0.1186 NA NA NA NA 0 G 1040,3362 119,802,1280 43 37 39 1.9 0 8 dbSNP_111 39 527,8045 17,493,3776 no intron COL22A1 NM_152888.1 136,1295,5056 AA,AG,GG 6.1479,23.6256,12.078 139734242 1567,11407 2201 4286 6487 SO:0001627 intron_variant AF406780 CCDS6376.1 8q24.3 2013-01-16 ENSG00000169436 ENSG00000169436 169044 Collagens 22989 protein-coding gene gene with protein product 610026 NA Standard XM_291257 NM_152888 NA Approved uc003yvd.3 Q8NFW1 OTTHUMG00000150035 ENST00000303045.6:c.2301+36C>T chr8.hg19:g.139734242G>A NA B7ZMH0|C9K0G4|Q8IVT9 hg19 CCDS6376.1 0.02 6.425611 TTGxGTT COVERED NOVEL COL22A1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000315905.2 0 5.116714 KEEP 0 0 0 17 608 GG 0.999366 0.999366 0 - 13 60 455 0 0 31.984529 151 60 5374 201 ENST00000303045.6 0.079268 1 COL22A1 169044 __UNKNOWN__ __UNKNOWN__ 8 139767379 139767379 __UNKNOWN__ Intron SNP C C T rs75275589 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:139767379C>T ENST00000303045.6 - 21 2478 COL22A1_ENST00000435777.1_Intron NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 NA NA extracellular matrix organization (GO:0030198) collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578) breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GCAAACCCTGCGCAGGAGAGG 0.567 NA HNSCC(7;0.00092) C||| 377 0.0752796 0.0507 0.0389 5008 , , NA 18232 0.2272 NA 0.007 False NA ,,, NA NA NA 2504 0.0481 NA NA NA NA 0 C 195,4211 122.5+/-159.9 7,181,2015 76 83 81 -6.8 0 8 dbSNP_131 81 33,8567 21.6+/-65.8 0,33,4267 no intron COL22A1 NM_152888.1 7,214,6282 TT,TC,CC 0.3837,4.4258,1.753 139767379 228,12778 2203 4300 6503 SO:0001627 intron_variant AF406780 CCDS6376.1 8q24.3 2013-01-16 ENSG00000169436 ENSG00000169436 169044 Collagens 22989 protein-coding gene gene with protein product 610026 NA Standard XM_291257 NM_152888 NA Approved uc003yvd.3 Q8NFW1 OTTHUMG00000150035 ENST00000303045.6:c.2031+20G>A chr8.hg19:g.139767379C>T NA B7ZMH0|C9K0G4|Q8IVT9 hg19 CCDS6376.1 0.02 5.824356 CTGxGCA COVERED NOVEL COL22A1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000315905.2 1 5.718717 KEEP 0 0 0 19 677 CC 0.99986 0.99986 0 - 10 60 326 0 0 20.456023 177 60 6587 241 ENST00000303045.6 0.053476 1 COL22A1 169044 __UNKNOWN__ __UNKNOWN__ 8 139772587 139772587 __UNKNOWN__ Intron SNP G G T rs7845811 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:139772587G>T ENST00000303045.6 - 18 2304 COL22A1_ENST00000435777.1_Intron NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 NA NA extracellular matrix organization (GO:0030198) collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578) breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CGGTGGTGGGGTGTTGGGGAG 0.527 NA HNSCC(7;0.00092) G||| 469 0.0936502 0.1974 0.0476 5008 , , NA 16207 0.123 NA 0.002 False NA ,,, NA NA NA 2504 0.0501 NA NA NA NA 0 G 190,1194 15,160,517 8 10 9 -3.5 0 8 dbSNP_116 9 8,3166 0,8,1579 no intron COL22A1 NM_152888.1 15,168,2096 TT,TG,GG 0.252,13.7283,4.344 139772587 198,4360 692 1587 2279 SO:0001627 intron_variant AF406780 CCDS6376.1 8q24.3 2013-01-16 ENSG00000169436 ENSG00000169436 169044 Collagens 22989 protein-coding gene gene with protein product 610026 NA Standard XM_291257 NM_152888 NA Approved uc003yvd.3 Q8NFW1 OTTHUMG00000150035 ENST00000303045.6:c.1858-57C>A chr8.hg19:g.139772587G>T NA B7ZMH0|C9K0G4|Q8IVT9 hg19 CCDS6376.1 0.02 6.085188 GGGxTGT COVERED NOVEL COL22A1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000315905.2 1 7.825319 KEEP 0 0 0 26 921 GG 0.999957 0.999957 0 - 9 60 326 0 0 21.381131 171 60 6355 260 ENST00000303045.6 0.05 1 TRAPPC9 83696 __UNKNOWN__ __UNKNOWN__ 8 141208517 141208517 __UNKNOWN__ Intron SNP T T C rs4496947 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:141208517T>C ENST00000389328.4 - 17 2865 TRAPPC9_ENST00000389327.3_Intron|TRAPPC9_ENST00000438773.2_Intron NM_031466.5 NP_113654.4 Q96Q05 TPPC9_HUMAN trafficking protein particle complex 9 NA NA cell differentiation (GO:0030154) endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794) breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 47 aaccctgtacttgatggatca 0.507 NA T||| 3462 0.691294 0.8169 0.7651 5008 , , NA 17493 0.5933 NA 0.6551 False NA ,,, NA NA NA 2504 0.6074 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC006206 CCDS34946.1, CCDS55278.1 8q24.3 2010-10-22 ENSG00000167632 ENSG00000167632 83696 Trafficking protein particle complex 30832 protein-coding gene gene with protein product TRAPP 120 kDa subunit, tularik gene 1 611966 NA 11572484 Standard NM_031466 NM_031466 NA Approved IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13 uc003yvh.2 Q96Q05 OTTHUMG00000164187 ENST00000389328.4:c.2850+23040A>G chr8.hg19:g.141208517T>C NA Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2 hg19 CCDS34946.1 0.02 -0.271968 TACxTGA COVERED NOVEL TRAPPC9-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000377711.3 0 3.610173 KEEP 0 0 0 12 354 TT 0.993634 0.712749 0 - 3 60 120 0 0 9.151365 28 60 1031 51 ENST00000389328.4 0.096774 0.717315 TRAPPC9 83696 __UNKNOWN__ __UNKNOWN__ 8 141310644 141310644 __UNKNOWN__ Silent SNP G G A rs12549048 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:141310644G>A ENST00000389328.4 - 11 2000 c.1986C>T c.(1984-1986)aaC>aaT p.N662N TRAPPC9_ENST00000389327.3_Silent_p.N555N|TRAPPC9_ENST00000438773.2_Silent_p.N564N NM_031466.5 NP_113654.4 Q96Q05 TPPC9_HUMAN trafficking protein particle complex 9 564 NA cell differentiation (GO:0030154) endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794) breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 47 TGGTTGACACGTTCTGACCCA 0.448 NA G||| 1782 0.355831 0.2443 0.4006 5008 , , NA 24329 0.6171 NA 0.172 False NA ,,, NA NA NA 2504 0.3947 NA NA NA NA 0 G , 1010,3396 375.4+/-321.6 101,808,1294 256 217 230 1692,1986 3.9 1 8 dbSNP_120 230 1516,7084 288.4+/-298.7 131,1254,2915 no coding-synonymous,coding-synonymous TRAPPC9 NM_001160372.1,NM_031466.5 , 232,2062,4209 AA,AG,GG 17.6279,22.9233,19.4218 , 564/1149,662/1247 141310644 2526,10480 2203 4300 6503 SO:0001819 synonymous_variant BC006206 CCDS34946.1, CCDS55278.1 8q24.3 2010-10-22 ENSG00000167632 ENSG00000167632 83696 Trafficking protein particle complex 30832 protein-coding gene gene with protein product TRAPP 120 kDa subunit, tularik gene 1 611966 NA 11572484 Standard NM_031466 NM_031466 NA Approved IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13 uc003yvh.2 Q96Q05 OTTHUMG00000164187 ENST00000389328.4:c.1986C>T chr8.hg19:g.141310644G>A NA Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2 hg19 CCDS34946.1 0.02 24.055862 CACxTTC COVERED 710 0.3250915750915751 117 0.23780487804878048 139 0.3839779005524862 328 0.5734265734265734 126 0.1662269129287599 G 9.404 1.078845 0.20227 0.229233 0.176279 ENSG00000167632 ENST00000520857 . . . 5.65 3.87 0.44632 . . . . . T 0.00012 0.0000 . . . 0.09310 P 0.99999562441 . . . . . . T 0.47471 -0.9115 3 . . . . 4.5243 0.11975 0.2941:0.1609:0.545:0.0 rs12549048 . . . C 408 . . R - 1 0 TRAPPC9 141379826 0.246000 0.23909 0.981000 0.43875 0.942000 0.58702 0.202000 0.17295 0.748000 0.32831 0.650000 0.86243 CGT NOVEL TRAPPC9-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000377711.3 3 21.303703 KEEP 0 1 32 82 2850 GG 1 1 0 - 24 60 871 0 0 55.561899 536 60 19049 770 ENST00000389328.4 0.042857 1 CHRAC1 54108 __UNKNOWN__ __UNKNOWN__ 8 141521780 141521780 __UNKNOWN__ Intron SNP A A C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:141521780A>C ENST00000220913.5 + 1 349 CHRAC1_ENST00000519533.1_Intron NM_017444.5 NP_059140.1 Q9NRG0 CHRC1_HUMAN chromatin accessibility complex 1 NA NA chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261) CHRAC (GO:0008623)|epsilon DNA polymerase complex (GO:0008622) DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|sequence-specific DNA binding (GO:0043565) ovary(2) 2 all_cancers(97;5.52e-16)|all_epithelial(106;1.22e-13)|Lung NSC(106;4.09e-06)|all_lung(105;6e-06)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.107) GGCCGCCCTTACCCCTCGCGC 0.756 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF226076 CCDS6379.1 8q24.3 2008-08-07 ENSG00000104472 54108 13544 protein-coding gene gene with protein product histone-fold protein CHRAC15 607268 NA 10880450, 11000277 Standard NM_017444 NM_017444 NA Approved CHRAC15, YCL1 uc003yvl.3 Q9NRG0 ENST00000220913.5:c.147+35A>C chr8.hg19:g.141521780A>C NA hg19 CCDS6379.1 0.02 3.595524 CTTxCCC COVERED NOVEL CHRAC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000377816.1 0 3.195062 KEEP 0 13 151 67 1632 AA 1 0.999987 0 + 17 60 217 0 0 10.92051 83 60 2093 221 ENST00000220913.5 0.17 0.999987 PTK2 5747 __UNKNOWN__ __UNKNOWN__ 8 141744917 141744917 __UNKNOWN__ Intron SNP G G A rs45613837 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:141744917G>A ENST00000522684.1 - 22 2260 PTK2_ENST00000519419.1_Intron|PTK2_ENST00000535192.1_Intron|PTK2_ENST00000395218.2_Intron|PTK2_ENST00000519465.1_Intron|PTK2_ENST00000340930.3_Intron|PTK2_ENST00000521059.1_Intron|PTK2_ENST00000517887.1_Intron|PTK2_ENST00000538769.1_Intron NM_153831.3 NP_722560.1 Q05397 FAK1_HUMAN protein tyrosine kinase 2 NA NA angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570) apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725) actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871) breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 48 all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;2.72e-05)|Breast(495;0.159) BRCA - Breast invasive adenocarcinoma(115;0.137) ggtggcaaaggtcaggaaagg 0.443 NA G||| 2333 0.465855 0.2799 0.5994 5008 , , NA 18143 0.5605 NA 0.4414 False NA ,,, NA NA NA 2504 0.5501 NA NA NA NA 0 G ,, 506,1246 77,352,447 16 15 16 ,, -5.7 0 8 dbSNP_127 16 1736,2246 373,990,628 no intron,intron,intron PTK2 NM_001199649.1,NM_005607.4,NM_153831.3 ,, 450,1342,1075 AA,AG,GG 43.5962,28.8813,39.1001 ,, ,, 141744917 2242,3492 876 1991 2867 SO:0001627 intron_variant L13616 CCDS6381.1, CCDS56557.1 8q24.3 2013-02-18 2013-02-18 ENSG00000169398 ENSG00000169398 5747 2.7.10.1 Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits 9611 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 71 600758 PTK2 protein tyrosine kinase 2 NA 8422239 Standard NM_005607 NM_153831 NA Approved FAK, FADK, FAK1, PPP1R71 uc003yvt.3 Q05397 OTTHUMG00000067438 ENST00000522684.1:c.2030+432C>T chr8.hg19:g.141744917G>A NA B4E2N6|F5H4S4|Q14291|Q9UD85 hg19 CCDS6381.1 0.02 4.126474 AAGxTCA COVERED NOVEL PTK2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000378054.5 0 5.65243 KEEP 0 1 29 29 1015 GG 0.999997 0.999997 0 - 6 60 223 0 0 14.586174 125 60 4686 187 ENST00000522684.1 0.045802 1 PTK2 5747 __UNKNOWN__ __UNKNOWN__ 8 141774282 141774282 __UNKNOWN__ Intron SNP A A C rs7840381 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:141774282A>C ENST00000522684.1 - 15 1464 PTK2_ENST00000519419.1_Intron|PTK2_ENST00000535192.1_Intron|PTK2_ENST00000395218.2_Intron|PTK2_ENST00000519465.1_Intron|PTK2_ENST00000340930.3_Intron|PTK2_ENST00000521059.1_Intron|PTK2_ENST00000520151.1_Intron|PTK2_ENST00000517887.1_Intron|PTK2_ENST00000538769.1_Intron NM_153831.3 NP_722560.1 Q05397 FAK1_HUMAN protein tyrosine kinase 2 NA NA angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570) apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725) actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871) breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 48 all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;2.72e-05)|Breast(495;0.159) BRCA - Breast invasive adenocarcinoma(115;0.137) TTTTAAATGCAAGGAGGCATC 0.333 NA A||| 2294 0.458067 0.2625 0.5994 5008 , , NA 19132 0.5794 NA 0.4284 False NA ,,, NA NA NA 2504 0.5276 NA NA NA NA 0 A ,, 1204,3202 408.2+/-334.5 183,838,1182 151 152 151 ,, -1.4 0 8 dbSNP_116 151 3645,4955 515.2+/-378.5 774,2097,1429 no intron,intron,intron PTK2 NM_001199649.1,NM_005607.4,NM_153831.3 ,, 957,2935,2611 CC,CA,AA 42.3837,27.3264,37.2828 ,, ,, 141774282 4849,8157 2203 4300 6503 SO:0001627 intron_variant L13616 CCDS6381.1, CCDS56557.1 8q24.3 2013-02-18 2013-02-18 ENSG00000169398 ENSG00000169398 5747 2.7.10.1 Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits 9611 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 71 600758 PTK2 protein tyrosine kinase 2 NA 8422239 Standard NM_005607 NM_153831 NA Approved FAK, FADK, FAK1, PPP1R71 uc003yvt.3 Q05397 OTTHUMG00000067438 ENST00000522684.1:c.1234+50T>G chr8.hg19:g.141774282A>C NA B4E2N6|F5H4S4|Q14291|Q9UD85 hg19 CCDS6381.1 0.02 2.172048 TGCxAGG COVERED NOVEL PTK2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000378054.5 0 6.92095 KEEP 0 0 0 23 735 AA 0.999892 0.999787 0 - 4 60 154 0 0 10.14712 89 60 3245 139 ENST00000522684.1 0.043011 0.999895 PTK2 5747 __UNKNOWN__ __UNKNOWN__ 8 141780818 141780818 __UNKNOWN__ Intron SNP T T C rs79812711 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:141780818T>C ENST00000522684.1 - 15 1407 PTK2_ENST00000519419.1_Intron|PTK2_ENST00000535192.1_Intron|PTK2_ENST00000395218.2_Intron|PTK2_ENST00000340930.3_Intron|PTK2_ENST00000521059.1_Intron|PTK2_ENST00000517887.1_Intron|PTK2_ENST00000538769.1_Intron NM_153831.3 NP_722560.1 Q05397 FAK1_HUMAN protein tyrosine kinase 2 NA NA angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570) apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725) actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871) breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 48 all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;2.72e-05)|Breast(495;0.159) BRCA - Breast invasive adenocarcinoma(115;0.137) GCAGTACCCGTAGAAGGAGGA 0.438 NA T||| 1267 0.252995 0.1551 0.2723 5008 , , NA 16456 0.4752 NA 0.1312 False NA ,,, NA NA NA 2504 0.2679 NA NA NA NA 0 T ,, 259,1493 21,217,638 20 19 19 ,, -11.7 0.1 8 dbSNP_131 19 617,3363 48,521,1421 no intron,intron,intron PTK2 NM_001199649.1,NM_005607.4,NM_153831.3 ,, 69,738,2059 CC,CT,TT 15.5025,14.7831,15.2826 ,, ,, 141780818 876,4856 876 1990 2866 SO:0001627 intron_variant L13616 CCDS6381.1, CCDS56557.1 8q24.3 2013-02-18 2013-02-18 ENSG00000169398 ENSG00000169398 5747 2.7.10.1 Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits 9611 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 71 600758 PTK2 protein tyrosine kinase 2 NA 8422239 Standard NM_005607 NM_153831 NA Approved FAK, FADK, FAK1, PPP1R71 uc003yvt.3 Q05397 OTTHUMG00000067438 ENST00000522684.1:c.1178-6429A>G chr8.hg19:g.141780818T>C NA B4E2N6|F5H4S4|Q14291|Q9UD85 hg19 CCDS6381.1 0.02 7.447807 CCGxAGA COVERED 572 0.2619047619047619 79 0.16056910569105692 78 0.2154696132596685 316 0.5524475524475524 99 0.13060686015831136 T 7.274 0.607820 0.14002 0.147831 0.155025 ENSG00000169398 ENST00000395214;ENST00000395221;ENST00000521986 T 0.75050 -0.9 5.87 -11.7 0.00046 . . . . . T 0.00012 0.0000 . . . 0.26329 P 0.9775567000000001 B 0.02656 0.0 B 0.01281 0.0 T 0.22800 -1.0206 7 0.08179 T 0.78 . 9.6794 0.40061 0.0:0.4222:0.3614:0.2164 . 81 B4DH13 . A 330;81;84 ENSP00000430603:T84A ENSP00000378640:T330A T - 1 0 PTK2 141850000 0.143000 0.22626 0.089000 0.20774 0.973000 0.67179 -0.469000 0.06648 -1.710000 0.01397 -0.256000 0.11100 ACG NOVEL PTK2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000378054.5 2 14.442217 KEEP 0 0 0 48 1468 TT 1 1 0 - 14 60 542 0 0 39.379642 170 60 6061 289 ENST00000522684.1 0.076087 1 DENND3 22898 __UNKNOWN__ __UNKNOWN__ 8 142200467 142200467 __UNKNOWN__ Silent SNP G G A rs1045303 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:142200467G>A ENST00000519811.1 + 20 3400 c.3330G>A c.(3328-3330)ccG>ccA p.P1110P DENND3_ENST00000262585.2_Silent_p.P1030P|DENND3_ENST00000523308.1_Silent_p.P80P|DENND3_ENST00000424248.1_Silent_p.P978P A2RUS2 DEND3_HUMAN DENN/MADD domain containing 3 1030 NA cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851) Rab guanyl-nucleotide exchange factor activity (GO:0017112) breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1) 55 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) TCCAGCTGCCGCGAGGTGGCC 0.647 NA G||| 1882 0.375799 0.2035 0.3256 5008 , , NA 16360 0.6171 NA 0.2644 False NA ,,, NA NA NA 2504 0.5102 NA NA NA NA 0 G 1034,3372 357.4+/-313.9 127,780,1296 51 48 49 3090 -10.6 0 8 dbSNP_86 49 2217,6383 357.4+/-330.7 286,1645,2369 no coding-synonymous DENND3 NM_014957.2 413,2425,3665 AA,AG,GG 25.7791,23.468,24.9962 1030/1199 142200467 3251,9755 2203 4300 6503 SO:0001819 synonymous_variant AB020677 CCDS34947.1 8q24.3 2013-01-10 ENSG00000105339 22898 DENN/MADD domain containing, WD repeat domain containing 29134 protein-coding gene gene with protein product NA 10048485 Standard NM_014957 NM_014957 NA Approved KIAA0870 uc003yvy.3 A2RUS2 ENST00000519811.1:c.3330G>A chr8.hg19:g.142200467G>A NA B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3 hg19 0.02 3.799307 GCCxCGA COVERED 779 0.3566849816849817 100 0.2032520325203252 126 0.34806629834254144 353 0.6171328671328671 200 0.2638522427440633 G 0.218 -1.031100 0.02029 0.23468 0.257791 ENSG00000105339 ENST00000518668 . . . 5.31 -10.6 0.00265 . . . . . T 0.00012 0.0000 . . . 0.34903 P 0.25326899999999997 . . . . . . T 0.16808 -1.0390 3 . . . -30.1385 15.5131 0.75798 0.175:0.6549:0.1108:0.0593 rs1045303;rs3185194;rs17407339;rs56738741;rs1045303 . . . T 1035 . . A + 1 0 DENND3 142269649 0.000000 0.05858 0.000000 0.03702 0.002000 0.02628 -1.815000 0.01722 -4.470000 0.00047 -0.657000 0.03884 GCG NOVEL DENND3-001 NOVEL basic|appris_principal protein_coding NA protein_coding OTTHUMT00000380189.3 1 7.223245 KEEP 0 0 0 24 844 GG 0.999909 0.999909 0 + 6 60 199 0 0 12.363255 117 60 4207 178 ENST00000519811.1 0.04878 0.999999 SLC45A4 57210 __UNKNOWN__ __UNKNOWN__ 8 142221874 142221874 __UNKNOWN__ Intron SNP A A G rs3739239 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:142221874A>G ENST00000024061.3 - 8 2449 SLC45A4_ENST00000433583.2_Intron|SLC45A4_ENST00000517878.1_Intron|SLC45A4_ENST00000519067.1_3'UTR NM_001080431.1 NP_001073900.1 Q5BKX6 S45A4_HUMAN solute carrier family 45, member 4 NA NA transport (GO:0006810) integral component of membrane (GO:0016021) breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) GATAAGACTTAGCAGAGAATG 0.289 NA A||| 813 0.16234 0.0159 0.1239 5008 , , NA 12119 0.3552 NA 0.1243 False NA ,,, NA NA NA 2504 0.228 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB032952 CCDS34948.1, CCDS69550.1, CCDS75795.1 8q24.3 2013-05-22 57210 Solute carriers 29196 protein-coding gene gene with protein product NA Standard XM_050325 NM_001080431 NA Approved KIAA1126 uc003ywd.1 Q5BKX6 ENST00000024061.3:c.2142-78T>C chr8.hg19:g.142221874A>G NA Q6ZRI2|Q9ULU3 hg19 CCDS34948.1 0.02 9.197978 CTTxGCA COVERED NOVEL SLC45A4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000378571.3 1 9.9281 KEEP 0 0 0 33 999 AA 0.999998 0.999998 0 - 14 60 501 0 0 33.773707 220 60 8119 283 ENST00000024061.3 0.059829 1 SLC45A4 57210 __UNKNOWN__ __UNKNOWN__ 8 142231664 142231664 __UNKNOWN__ Intron SNP C C T rs77680987 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:142231664C>T ENST00000024061.3 - 2 585 SLC45A4_ENST00000433583.2_Intron|SLC45A4_ENST00000517878.1_Intron|SLC45A4_ENST00000519067.1_Intron NM_001080431.1 NP_001073900.1 Q5BKX6 S45A4_HUMAN solute carrier family 45, member 4 NA NA transport (GO:0006810) integral component of membrane (GO:0016021) breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) CAGGTGTGGCCGAGAAACTTA 0.582 NA C||| 77 0.0153754 0.0023 0.0029 5008 , , NA 19422 0.0685 NA 0.002 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 C 6,4400 11.4+/-27.6 0,6,2197 48 54 52 -3.2 0 8 dbSNP_131 52 14,8586 10.5+/-38.8 0,14,4286 no intron SLC45A4 NM_001080431.1 0,20,6483 TT,TC,CC 0.1628,0.1362,0.1538 142231664 20,12986 2203 4300 6503 SO:0001627 intron_variant AB032952 CCDS34948.1, CCDS69550.1, CCDS75795.1 8q24.3 2013-05-22 57210 Solute carriers 29196 protein-coding gene gene with protein product NA Standard XM_050325 NM_001080431 NA Approved KIAA1126 uc003ywd.1 Q5BKX6 ENST00000024061.3:c.277+11G>A chr8.hg19:g.142231664C>T NA Q6ZRI2|Q9ULU3 hg19 CCDS34948.1 0.02 -0.228097 GGCxGAG COVERED NOVEL SLC45A4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000378571.3 1 3.611299 KEEP 0 0 0 12 411 CC 0.993634 0.579219 0 - 3 60 109 0 0 8.294005 23 60 832 43 ENST00000024061.3 0.115385 0.58293 AC138647.1 0 __UNKNOWN__ __UNKNOWN__ 8 142524759 142524759 __UNKNOWN__ 5'UTR SNP A A G rs72685453 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:142524759A>G ENST00000427937.1 + 0 22 NA NA NA TCTCCTGGGCAGCCTAGTAAA 0.657 NA A||| 881 0.175919 0.0673 0.1614 5008 , , NA 14611 0.3135 NA 0.2445 False NA ,,, NA NA NA 2504 0.1207 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant NA NA NA NA ENST00000427937.1:c.-38A>G chr8.hg19:g.142524759A>G NA hg19 0.02 4.197328 GGCxGCC COVERED NOVEL AC138647.1-001 PUTATIVE not_organism_supported|not_organism_supported|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000343730.1 0 4.501772 KEEP 0 0 0 15 460 AA 0.99649 0.99649 0 + 10 60 346 0 0 24.318837 113 60 4101 172 ENST00000427937.1 0.081301 0.999999 BAI1 575 __UNKNOWN__ __UNKNOWN__ 8 143556790 143556790 __UNKNOWN__ Intron SNP G G A rs55875009 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:143556790G>A ENST00000517894.1 + 3 1678 BAI1_ENST00000323289.5_Intron O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 NA NA axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165) cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7) 57 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) TCCAGGCCACGAGCCCCTGCC 0.741 NA g||| 1157 0.23103 0.2693 0.2911 5008 , , NA 9578 0.3006 NA 0.173 False NA ,,, NA NA NA 2504 0.1247 NA NA NA NA 0 A 789,2717 95,599,1059 5 6 6 -3.3 0 8 dbSNP_129 6 1300,6528 144,1012,2758 no intron BAI1 NM_001702.2 239,1611,3817 AA,AG,GG 16.6071,22.5043,18.4313 143556790 2089,9245 1753 3914 5667 SO:0001627 intron_variant AB005297 CCDS64985.1 8q24.3 2014-08-08 ENSG00000181790 ENSG00000181790 575 -, GPCR / Class B : Orphans 943 protein-coding gene gene with protein product 602682 NA 9533023 Standard NM_001702 NM_001702 NA Approved uc003ywm.3 O14514 OTTHUMG00000164732 ENST00000517894.1:c.785-45G>A chr8.hg19:g.143556790G>A NA hg19 0.02 6.035459 CACxAGC COVERED NOVEL BAI1-001 KNOWN non_canonical_conserved|not_organism_supported|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000379963.3 0 19.558698 KEEP 0 0 0 65 2182 GG 1 1 0 + 8 60 279 0 0 17.406323 178 60 6127 339 ENST00000517894.1 0.043011 1 LYNX1 66004 __UNKNOWN__ __UNKNOWN__ 8 143852964 143852964 __UNKNOWN__ 3'UTR SNP C C G rs13362 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:143852964C>G ENST00000398906.1 - 0 4356 LYNX1_ENST00000395192.2_3'UTR|LYNX1_ENST00000335822.5_Intron|LYNX1_ENST00000523332.1_Intron NM_177477.2 NP_803430.1 Q9BZG9 LYNX1_HUMAN Ly6/neurotoxin 1 NA NA anchored component of membrane (GO:0031225)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886) endometrium(1)|lung(2)|skin(1) 4 all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) CTCCTTAAGGCTGGGGAGGGC 0.647 NA C||| 777 0.155152 0.0159 0.1628 5008 , , NA 16225 0.1131 NA 0.2664 False NA ,,, NA NA NA 2504 0.2669 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF321824 CCDS6389.1, CCDS34951.1, CCDS34952.1 8q24.3 2008-03-12 ENSG00000180155 ENSG00000180155 66004 29604 protein-coding gene gene with protein product 606110 NA 12573258, 10402197 Standard NM_177476 NM_023946 NA Approved SLURP2 uc003yxd.1 Q9BZG9 OTTHUMG00000164694 ENST00000398906.1:c.*3621G>C chr8.hg19:g.143852964C>G NA D3DWI7|G3XAC2|Q86SR0 hg19 CCDS6389.1 0.02 8.332363 AGGxTGG COVERED NOVEL LYNX1-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000379888.1 0 6.921276 KEEP 0 0 0 23 816 CC 0.999892 0.999892 0 - 12 60 425 0 0 28.061572 206 60 7602 277 ENST00000398906.1 0.055046 1 LYNX1 66004 __UNKNOWN__ __UNKNOWN__ 8 143856967 143856967 __UNKNOWN__ Intron SNP C C G rs2304398 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:143856967C>G ENST00000398906.1 - 3 539 LYNX1_ENST00000395192.2_Intron|LYNX1_ENST00000335822.5_Intron|LYNX1_ENST00000345173.6_Intron|LYNX1_ENST00000523332.1_Intron NM_177477.2 NP_803430.1 Q9BZG9 LYNX1_HUMAN Ly6/neurotoxin 1 NA NA anchored component of membrane (GO:0031225)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886) endometrium(1)|lung(2)|skin(1) 4 all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) AGAACCTCCCCTTCGTGCTCC 0.682 NA C||| 1011 0.201877 0.0257 0.1916 5008 , , NA 17751 0.1468 NA 0.3777 False NA ,,, NA NA NA 2504 0.3231 NA NA NA NA 0 C ,,, 286,4066 16,254,1906 28 26 27 ,,, 2 0 8 dbSNP_100 27 2990,5550 553,1884,1833 no intron,intron,intron,intron LYNX1 NM_023946.2,NM_177457.3,NM_177476.2,NM_177477.2 ,,, 569,2138,3739 GG,GC,CC 35.0117,6.5717,25.4111 ,,, ,,, 143856967 3276,9616 2176 4270 6446 SO:0001627 intron_variant AF321824 CCDS6389.1, CCDS34951.1, CCDS34952.1 8q24.3 2008-03-12 ENSG00000180155 ENSG00000180155 66004 29604 protein-coding gene gene with protein product 606110 NA 12573258, 10402197 Standard NM_177476 NM_023946 NA Approved SLURP2 uc003yxd.1 Q9BZG9 OTTHUMG00000164694 ENST00000398906.1:c.154+43G>C chr8.hg19:g.143856967C>G NA D3DWI7|G3XAC2|Q86SR0 hg19 CCDS6389.1 0.02 2.153901 CCCxTTC COVERED NOVEL LYNX1-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000379888.1 3 9.630242 KEEP 0 0 0 32 1090 CC 0.999997 0.999917 0 - 4 60 141 0 0 8.829801 90 60 3333 135 ENST00000398906.1 0.042553 0.999919 LYNX1 66004 __UNKNOWN__ __UNKNOWN__ 8 143857208 143857208 __UNKNOWN__ Intron SNP G G A rs2304397 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:143857208G>A ENST00000522906.1 - 2 158 LYNX1_ENST00000398906.1_Intron|LYNX1_ENST00000395192.2_Intron|LYNX1_ENST00000335822.5_Intron|LYNX1_ENST00000345173.6_Intron|LYNX1_ENST00000523332.1_Intron Q9BZG9 LYNX1_HUMAN Ly6/neurotoxin 1 NA NA anchored component of membrane (GO:0031225)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886) endometrium(1)|lung(2)|skin(1) 4 all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) CACCTTCCCCGGGGCAGGGGG 0.652 NA A||| 589 0.117612 0.0431 0.1167 5008 , , NA 17410 0.1111 NA 0.1889 False NA ,,, NA NA NA 2504 0.1524 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF321824 CCDS6389.1, CCDS34951.1, CCDS34952.1 8q24.3 2008-03-12 ENSG00000180155 ENSG00000180155 66004 29604 protein-coding gene gene with protein product 606110 NA 12573258, 10402197 Standard NM_177476 NM_023946 NA Approved SLURP2 uc003yxd.1 Q9BZG9 OTTHUMG00000164694 ENST00000522906.1:c.73-96C>T chr8.hg19:g.143857208G>A NA D3DWI7|G3XAC2|Q86SR0 hg19 0.02 6.786182 CCCxGGG COVERED NOVEL LYNX1-006 PUTATIVE basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000379890.1 1 4.783012 KEEP 0 2 60 37 1233 GG 1 1 0 - 8 60 277 0 0 17.874093 147 60 5001 216 ENST00000522906.1 0.051613 1 GML 2765 __UNKNOWN__ __UNKNOWN__ 8 143922620 143922620 __UNKNOWN__ Missense_Mutation SNP C C T rs3764795 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:143922620C>T ENST00000220940.1 + 3 250 c.160C>T c.(160-162)Cgc>Tgc p.R54C NM_002066.2 NP_002057.1 Q99445 GML_HUMAN glycosylphosphatidylinositol anchored molecule like 54 UPAR/Ly6. NA R -> C (in dbSNP:rs3764795). apoptotic process (GO:0006915)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|negative regulation of cell proliferation (GO:0008285) anchored component of membrane (GO:0031225)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886) NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8) 18 all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) TCATATTAGGCGCTGTATGAC 0.463 NA c||| 1050 0.209665 0.1687 0.1311 5008 , , NA 24940 0.4772 NA 0.0497 False NA ,,, NA NA NA 2504 0.2096 NA NA NA NA 0 C CYS/ARG 670,3736 46,578,1579 220 181 194 160 2.5 1 8 dbSNP_107 194 461,8139 16,429,3855 yes missense GML NM_002066.2 180 62,1007,5434 TT,TC,CC 5.3605,15.2065,8.696 probably-damaging 54/159 143922620 1131,11875 2203 4300 6503 SO:0001583 missense D84290 CCDS6391.1 8q24.3 2014-05-14 2012-11-02 2765 4375 protein-coding gene gene with protein product 602370 GPI anchored molecule like protein, glycosylphosphatidylinositol anchored molecule like protein NA 8934543, 9169150 Standard NM_002066 NM_002066 NA Approved LY6DL uc003yxg.3 Q99445 ENST00000220940.1:c.160C>T chr8.hg19:g.143922620C>T ENSP00000220940:p.Arg54Cys NA A0AVF6|O00686|O00731 hg19 CCDS6391.1 0.02 8.203177 AGGxGCT COVERED 431 0.19734432234432234 78 0.15853658536585366 46 0.1270718232044199 269 0.47027972027972026 38 0.05013192612137203 N 15.17 2.754520 0.49362 0.152065 0.053605 ENSG00000104499 ENST00000522728;ENST00000220940 T;T 0.22743 1.94;1.94 3.43 2.55 0.30701 Ly-6 antigen / uPA receptor -like (1);CD59 antigen, conserved site (1); 0.537042 0.15823 N 0.242906 T 0.00012 0.0000 L 0.58101 1.795 0.24373 P 0.99482382 D 0.89917 1.0 D 0.67900 0.954 T 0.46952 -0.9154 9 0.51188 T 0.08 -17.6019 6.8583 0.24052 0.0:0.8706:0.0:0.1294 rs3764795;rs56577850;rs60074823;rs3764795 54 Q99445 GML_HUMAN C 54 ENSP00000430799:R54C;ENSP00000220940:R54C ENSP00000220940:R54C R + 1 0 GML 143919622 0.832000 0.29368 0.957000 0.39632 0.103000 0.19146 0.608000 0.24223 1.001000 0.39076 0.650000 0.86243 CGC NOVEL GML-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000379659.1 1 3.9122 KEEP 0 0 0 13 443 CC 0.994391 0.994391 0 + 11 60 380 0 0 24.537808 200 60 6922 267 ENST00000220940.1 0.052133 1 CYP11B1 1584 __UNKNOWN__ __UNKNOWN__ 8 143959174 143959174 __UNKNOWN__ Splice_Site SNP T T C rs75717953 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:143959174T>C ENST00000377675.3 - 4 613 c.607A>G c.(607-609)Agg>Ggg p.R203G CYP11B1_ENST00000292427.4_Intron|CYP11B1_ENST00000517471.1_Intron P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 1 133 NA aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805) mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739) heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507) central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 67 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421) CATCCTCACCTACAGCCAGAG 0.557 NA Familial Hyperaldosteronism type I NA NA NA NA NA NA NA NA NA NA 0 61 58 59 NA NA 8 NA 143959174 876 1991 2867 SO:0001630 splice_region_variant Familial Cancer Database Dexamethasone Sensitive Aldosteronism, FH-I D16153 CCDS6392.1, CCDS34953.1 8q21-q22 2013-06-19 2003-01-14 ENSG00000160882 ENSG00000160882 1584 1.14.15.4 Cytochrome P450s 2591 protein-coding gene gene with protein product steroid 11-beta-monooxygenase 610613 cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1 CYP11B NA 1303253 Standard XM_005250807 NA Approved P450C11, FHI, CPN1 uc003yxi.3 P15538 OTTHUMG00000164637 ENST00000377675.3:c.608+1A>G chr8.hg19:g.143959174T>C NA Q14095|Q4VAQ8|Q4VAQ9|Q9UML2 hg19 0.02 4.804524 ACCxACA COVERED . . . . . . . . . . . 5.217 0.225576 0.09916 . . ENSG00000160882 ENST00000377675 T 0.68181 -0.31 1.6 -3.2 0.05156 . . . . . T 0.46151 0.1378 . . . 0.19300 N 0.99998 B 0.02656 0.0 B 0.01281 0.0 T 0.12708 -1.0537 8 0.42905 T 0.14 . 1.1804 0.01844 0.156:0.3861:0.2612:0.1967 . 203 Q4VAR0 . G 203 ENSP00000366903:R203G ENSP00000366903:R203G R - 1 2 CYP11B1 143956176 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -0.158000 0.10070 -2.403000 0.00577 -1.307000 0.01316 AGG NOVEL CYP11B1-003 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000379655.1 0 4.513254 KEEP 2 0 0 15 461 TT 0.995343 0.995342 0 Missense_Mutation - 5 60 192 0 0 12.543935 116 60 4279 167 ENST00000377675.3 0.041322 0.999999 C8orf31 286122 __UNKNOWN__ __UNKNOWN__ 8 144124512 144124512 __UNKNOWN__ Intron SNP T T C rs11136299 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:144124512T>C ENST00000395172.1 + 2 438 C8orf31_ENST00000517653.1_Intron NM_173687.2 NP_775958.1 Q8N9H6 CH031_HUMAN chromosome 8 open reading frame 31 NA NA breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1) 10 all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) AGGGTAGGCCTGCGGGGGAGA 0.617 NA t||| 1946 0.388578 0.4826 0.33 5008 , , NA 17347 0.4177 NA 0.3628 False NA ,,, NA NA NA 2504 0.2996 NA NA NA NA 0 T 2102,2304 572.2+/-383.3 492,1118,593 55 60 58 -3.5 0 8 dbSNP_120 58 3118,5482 475.4+/-369.1 553,2012,1735 no intron C8orf31 NM_173687.2 1045,3130,2328 CC,CT,TT 36.2558,47.7077,40.1353 144124512 5220,7786 2203 4300 6503 SO:0001627 intron_variant CCDS6395.1 8q24.3 2012-04-11 ENSG00000177335 ENSG00000177335 286122 26731 protein-coding gene gene with protein product NA Standard NM_173687 NM_173687 NA Approved FLJ37131 uc003yxp.1 Q8N9H6 OTTHUMG00000164771 ENST00000395172.1:c.86+8T>C chr8.hg19:g.144124512T>C NA Q6GMU7 hg19 CCDS6395.1 0.02 16.121546 GCCxGCG COVERED NOVEL C8orf31-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000380167.1 5 9.159806 KEEP 0 1 36 43 1311 TT 1 1 0 + 30 60 1003 0 0 69.499129 346 60 12450 489 ENST00000395172.1 0.079787 1 C8orf31 286122 __UNKNOWN__ __UNKNOWN__ 8 144124548 144124548 __UNKNOWN__ Intron SNP G G A rs78041945 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:144124548G>A ENST00000395172.1 + 3 438 C8orf31_ENST00000517653.1_Intron NM_173687.2 NP_775958.1 Q8N9H6 CH031_HUMAN chromosome 8 open reading frame 31 NA NA breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1) 10 all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) TCACAGCAGGGCCCAGAGGAA 0.642 NA g||| 571 0.114018 0.0113 0.1643 5008 , , NA 16756 0.1815 NA 0.1163 False NA ,,, NA NA NA 2504 0.1452 NA NA NA NA 0 G 109,4297 84.4+/-122.9 2,105,2096 47 50 49 -3.5 0 8 dbSNP_132 49 996,7604 213.5+/-253.4 54,888,3358 no intron C8orf31 NM_173687.2 56,993,5454 AA,AG,GG 11.5814,2.4739,8.4961 144124548 1105,11901 2203 4300 6503 SO:0001627 intron_variant CCDS6395.1 8q24.3 2012-04-11 ENSG00000177335 ENSG00000177335 286122 26731 protein-coding gene gene with protein product NA Standard NM_173687 NM_173687 NA Approved FLJ37131 uc003yxp.1 Q8N9H6 OTTHUMG00000164771 ENST00000395172.1:c.87-32G>A chr8.hg19:g.144124548G>A NA Q6GMU7 hg19 CCDS6395.1 0.02 12.70473 AGGxCCC COVERED NOVEL C8orf31-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000380167.1 5 12.942069 KEEP 0 0 0 43 1531 GG 1 1 0 + 23 60 777 0 0 52.896042 299 60 10888 418 ENST00000395172.1 0.071429 1 GPIHBP1 338328 __UNKNOWN__ __UNKNOWN__ 8 144298815 144298815 __UNKNOWN__ 3'UTR SNP C C T rs192887989 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:144298815C>T ENST00000330824.2 + 0 2052 NM_178172.3 NP_835466.1 Q8IV16 HDBP1_HUMAN glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 NA NA cholesterol homeostasis (GO:0042632)|intracellular protein transport (GO:0006886)|positive regulation of chylomicron remnant clearance (GO:0090321)|positive regulation of lipoprotein lipase activity (GO:0051006)|protein import (GO:0017038)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|protein transmembrane transport (GO:0071806)|response to heparin (GO:0071503)|transcytosis (GO:0045056)|triglyceride homeostasis (GO:0070328) anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|external side of plasma membrane (GO:0009897)|high-density lipoprotein particle (GO:0034364) chylomicron binding (GO:0035478)|lipase binding (GO:0035473)|lipid binding (GO:0008289)|lipoprotein particle binding (GO:0071813)|protein transmembrane transporter activity (GO:0008320) lung(2) 2 all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) GCTGGGGGGTCGGAAggcaaa 0.532 NA c||| 1 0.000199681 0.0 0.0 5008 , , NA 18529 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF088057 CCDS34954.1 8q24.3 2014-07-14 2008-02-07 338328 24945 protein-coding gene gene with protein product endothelial cell LPL transporter 612757 GPI anchored high density lipoprotein binding protein 1 NA 12496272, 17883852, 17620854, 17403372 Standard NM_178172 NM_178172 NA Approved LOC338328, GPI-HBP1 uc003yxu.2 Q8IV16 ENST00000330824.2:c.*1422C>T chr8.hg19:g.144298815C>T NA Q6P3T2|Q86W15 hg19 CCDS34954.1 0.02 8.173751 GGTxGGA COVERED NOVEL GPIHBP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000381113.1 2 7.824447 KEEP 0 0 0 26 854 CC 0.999957 0.999957 0 + 10 60 327 0 0 20.212851 193 60 6132 259 ENST00000330824.2 0.049261 1 MROH6 642475 __UNKNOWN__ __UNKNOWN__ 8 144652281 144652281 __UNKNOWN__ Intron SNP T T A rs11990325 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:144652281T>A ENST00000398882.3 - 7 1300 NM_001100878.1 NP_001094348.1 A6NGR9 MROH6_HUMAN maestro heat-like repeat family member 6 NA NA NA TGGCGGCCTTTCTCCTCGAGA 0.627 NA a||| 1402 0.279952 0.2126 0.2291 5008 , , NA 19291 0.2292 NA 0.2525 False NA ,,, NA NA NA 2504 0.4877 NA NA NA NA 0 846,3322 99,648,1337 17 23 21 -8.4 0 8 dbSNP_120 21 2056,6326 253,1550,2388 no intron C8orf73 NM_001100878.1 352,2198,3725 AA,AT,TT 24.5288,20.2975,23.1235 144652281 2902,9648 2084 4191 6275 SO:0001627 intron_variant AF289596 CCDS47928.1 8q24.3 2012-12-19 2012-12-19 2012-12-19 ENSG00000204839 ENSG00000204839 642475 maestro heat-like repeat containing 27814 protein-coding gene gene with protein product chromosome 8 open reading frame 73 C8orf73 NA 12477932 Standard NM_001100878 NM_001100878 NA Approved uc010mff.3 A6NGR9 OTTHUMG00000165164 ENST00000398882.3:c.1044-46A>T chr8.hg19:g.144652281T>A NA A8MWB1 hg19 CCDS47928.1 0.02 5.001627 CTTxCTC COVERED NOVEL MROH6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000382330.3 4 23.542162 KEEP 0 3 90 110 3382 TT 1 1 0 - 6 60 200 0 0 11.306979 184 60 6493 356 ENST00000398882.3 0.031579 1 MROH6 642475 __UNKNOWN__ __UNKNOWN__ 8 144654669 144654669 __UNKNOWN__ Silent SNP C C A rs577350516 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:144654669C>A ENST00000398882.3 - 1 472 c.216G>T c.(214-216)ggG>ggT p.G72G NM_001100878.1 NP_001094348.1 A6NGR9 MROH6_HUMAN maestro heat-like repeat family member 6 72 NA NA GGACGGTGGCCCCACGTCCAG 0.687 NA c||| 4 0.000798722 0.0 0.0 5008 , , NA 13827 0.004 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 15 20 18 NA NA 8 NA 144654669 1988 4150 6138 SO:0001819 synonymous_variant AF289596 CCDS47928.1 8q24.3 2012-12-19 2012-12-19 2012-12-19 ENSG00000204839 ENSG00000204839 642475 maestro heat-like repeat containing 27814 protein-coding gene gene with protein product chromosome 8 open reading frame 73 C8orf73 NA 12477932 Standard NM_001100878 NM_001100878 NA Approved uc010mff.3 A6NGR9 OTTHUMG00000165164 ENST00000398882.3:c.216G>T chr8.hg19:g.144654669C>A NA A8MWB1 hg19 CCDS47928.1 0.02 7.66021 GGCxCCA COVERED NOVEL MROH6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000382330.3 5 40.029298 KEEP 0 0 0 133 4661 CC 1 1 0 - 10 60 354 0 0 22.354646 218 60 7904 479 ENST00000398882.3 0.04386 1 MAPK15 225689 __UNKNOWN__ __UNKNOWN__ 8 144802884 144802884 __UNKNOWN__ Missense_Mutation SNP C C T rs146609910 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:144802884C>T ENST00000338033.4 + 9 910 c.791C>T c.(790-792)aCg>aTg p.T264M NM_139021.2 NP_620590.2 Q8TD08 MK15_HUMAN mitogen-activated protein kinase 15 264 Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}. NA MAPK cascade (GO:0000165)|negative regulation of DNA replication (GO:0008156)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|response to estradiol (GO:0032355) extracellular region (GO:0005576)|intracellular (GO:0005622)|nucleus (GO:0005634) ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|SH3 domain binding (GO:0017124) endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1) 12 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) CCACGACAGACGCTGGATGCC 0.657 NA C||| 29 0.00579073 0.0008 0.0231 5008 , , NA 16355 0.0099 NA 0.002 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 C MET/THR 5,4273 0,5,2134 27 39 35 791 -0.6 0 8 dbSNP_134 35 0,8504 0,0,4252 yes missense MAPK15 NM_139021.2 81 0,5,6386 TT,TC,CC 0.0,0.1169,0.0391 probably-damaging 264/545 144802884 5,12777 2139 4252 6391 SO:0001583 missense AY065978 CCDS6409.2 8q24.3 2011-06-09 ENSG00000181085 ENSG00000181085 225689 Mitogen-activated protein kinase cascade / Kinases 24667 protein-coding gene gene with protein product extracellular signal regulated kinase 8 NA 11875070 Standard NM_139021 XM_006716528 NA Approved ERK8, ERK7 uc003yzj.3 Q8TD08 OTTHUMG00000146450 ENST00000338033.4:c.791C>T chr8.hg19:g.144802884C>T ENSP00000337691:p.Thr264Met NA Q2TCF9|Q8N362 hg19 CCDS6409.2 0.02 8.700507 AGAxGCT COVERED 14 0.00641025641025641 0 0.0 6 0.016574585635359115 6 0.01048951048951049 2 0.002638522427440633 c 9.544 1.114139 0.20795 0.001169 0.0 ENSG00000181085 ENST00000338033 T 0.44482 0.92 3.77 -0.642 0.11486 Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1); 0.273852 0.35407 N 0.003222 T 0.26085 0.0636 L 0.49571 1.57 0.09310 N 0.999998 D 0.54772 0.968 P 0.57776 0.827 T 0.23440 -1.0188 10 0.56958 D 0.05 . 1.5105 0.02495 0.1688:0.469:0.1645:0.1977 . 264 Q8TD08 MK15_HUMAN M 264 ENSP00000337691:T264M ENSP00000337691:T264M T + 2 0 MAPK15 144874872 0.893000 0.30496 0.014000 0.15608 0.052000 0.14988 2.049000 0.41288 -0.408000 0.07565 -0.373000 0.07131 ACG NOVEL MAPK15-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000300348.1 3 11.135101 KEEP 0 0 0 37 1244 CC 1 1 0 + 9 60 325 0 0 20.243533 225 60 7569 318 ENST00000338033.4 0.038462 1 PLEC 5339 __UNKNOWN__ __UNKNOWN__ 8 145018911 145018911 __UNKNOWN__ Intron SNP C C A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:145018911C>A ENST00000322810.4 - 1 693 PLEC_ENST00000354958.2_Intron|PLEC_ENST00000527096.1_Intron|PLEC_ENST00000436759.2_Intron|PLEC_ENST00000356346.3_Intron NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin NA NA apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581) costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528) ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307) NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 GGAGGAGGCACAAGCCACTGG 0.721 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U53204 CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1 8q24 2010-02-04 2010-02-04 2010-02-04 ENSG00000178209 ENSG00000178209 5339 9069 protein-coding gene gene with protein product 601282 plectin 1, intermediate filament binding protein, 500kD, epidermolysis bullosa simplex 1 (Ogna), plectin 1, intermediate filament binding protein 500kDa EBS1, PLEC1 NA 8633055, 8696340 Standard NM_000445 XM_005250976 NA Approved PCN, PLTN uc003zaf.1 Q15149 OTTHUMG00000165291 ENST00000322810.4:c.523+5440G>T chr8.hg19:g.145018911C>A NA Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383 hg19 CCDS43772.1 0.02 1.786499 GCAxAAG COVERED NOVEL PLEC-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000383281.1 1 8.1006 KEEP 0 11 141 80 2212 CC 1 0.996724 0 - 8 60 162 0 0 9.483234 61 60 1744 295 ENST00000322810.4 0.115942 0.996724 PARP10 84875 __UNKNOWN__ __UNKNOWN__ 8 145057916 145057916 __UNKNOWN__ Missense_Mutation SNP G G T rs200577841 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:145057916G>T ENST00000524918.1 - 8 1900 c.1814C>A c.(1813-1815)cCt>cAt p.P605H PARP10_ENST00000313028.7_Missense_Mutation_p.P614H|PARP10_ENST00000525773.1_Missense_Mutation_p.P626H Q53GL7 PAR10_HUMAN poly (ADP-ribose) polymerase family, member 10 614 Glu-rich. NA negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of protein K63-linked ubiquitination (GO:1900045)|negative regulation of viral genome replication (GO:0045071)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein poly-ADP-ribosylation (GO:0070212)|regulation of chromatin assembly (GO:0010847) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634) K63-linked polyubiquitin binding (GO:0070530)|NAD+ ADP-ribosyltransferase activity (GO:0003950) NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2) 27 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CAGCTCCCGAGGCAGCCAGTC 0.687 NA G||| 15 0.00299521 0.0 0.0029 5008 , , NA 16731 0.0129 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 HIS/PRO 2,4294 0,2,2146 15 15 15 1841 4.3 0.4 8 15 0,8336 0,0,4168 yes missense PARP10 NM_032789.3 77 0,2,6314 TT,TG,GG 0.0,0.0466,0.0158 possibly-damaging 614/1026 145057916 2,12630 2148 4168 6316 SO:0001583 missense AK027370 CCDS34960.1 8q24 2010-02-16 ENSG00000178685 84875 Poly (ADP-ribose) polymerases 25895 protein-coding gene gene with protein product 609564 NA 15273990 Standard NM_032789 NM_032789 NA Approved FLJ14464 uc003zal.4 Q53GL7 ENST00000524918.1:c.1814C>A chr8.hg19:g.145057916G>T ENSP00000431620:p.Pro605His NA Q8N2I0|Q8WV05|Q96CH7|Q96K72 hg19 0.02 9.109924 CGAxGCA COVERED 9 0.004120879120879121 0 0.0 2 0.0055248618784530384 7 0.012237762237762238 0 0.0 G 14.31 2.496125 0.44352 4.66E-4 0.0 ENSG00000178685 ENST00000524918;ENST00000534861;ENST00000313028;ENST00000525773 T;T;T 0.16597 2.33;2.5;2.5 4.34 4.34 0.51931 . 0.146929 0.31495 N 0.007548 T 0.18882 0.0453 L 0.29908 0.895 0.09310 N 1 D;D 0.76494 0.999;0.999 P;P 0.62813 0.907;0.907 T 0.02251 -1.1188 10 0.52906 T 0.07 . 12.387 0.55338 0.0:0.0:1.0:0.0 . 626;614 E9PNI7;Q53GL7 .;PAR10_HUMAN H 605;320;614;626 ENSP00000431620:P605H;ENSP00000325618:P614H;ENSP00000434776:P626H ENSP00000325618:P614H P - 2 0 PARP10 145129904 0.019000 0.18553 0.367000 0.25926 0.543000 0.35085 1.156000 0.31712 1.987000 0.57996 0.479000 0.44913 CCT NOVEL PARP10-004 NOVEL basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000383865.1 1 34.611511 KEEP 0 0 0 115 4065 GG 1 1 0 - 17 60 587 0 0 40.103324 227 60 8511 464 ENST00000524918.1 0.069672 1 DGAT1 8694 __UNKNOWN__ __UNKNOWN__ 8 145542688 145542688 __UNKNOWN__ Intron SNP C C G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:145542688C>G ENST00000332324.4 - 3 603 DGAT1_ENST00000531896.1_Intron NM_012079.4 NP_036211.2 O75907 DGAT1_HUMAN diacylglycerol O-acyltransferase 1 NA NA acylglycerol acyl-chain remodeling (GO:0036155)|cellular lipid metabolic process (GO:0044255)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|lipid storage (GO:0019915)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle assembly (GO:0034379) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) diacylglycerol O-acyltransferase activity (GO:0004144)|retinol O-fatty-acyltransferase activity (GO:0050252)|transferase activity, transferring acyl groups (GO:0016746) breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 9 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055) CAAAGGCACTCACTTGATGAG 0.637 NA NA NA NA NA NA NA NA NA NA NA 0 52 40 44 NA NA 8 NA 145542688 2163 4258 6421 SO:0001627 intron_variant AF059202 CCDS6420.1 8q24.3 2014-05-06 2010-06-24 2001-11-09 ENSG00000185000 ENSG00000185000 8694 2.3.1.20 2843 protein-coding gene gene with protein product 604900 diacylglycerol O-acyltransferase homolog 1 (mouse) NA 9756920 Standard NM_012079 NM_012079 NA Approved ARGP1, DGAT uc003zbv.3 O75907 OTTHUMG00000174606 ENST00000332324.4:c.329+2G>C chr8.hg19:g.145542688C>G NA B2RWQ2|D3DWL6|Q96BB8 hg19 CCDS6420.1 0.02 4.501807 ACTxACT COVERED NOVEL DGAT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000382059.3 1 15.349663 KEEP 0 0 0 51 1794 CC 1 0.999994 0 - 6 60 204 0 0 13.268853 103 60 3847 209 ENST00000332324.4 0.055046 0.999994 SLC52A2 79581 __UNKNOWN__ __UNKNOWN__ 8 145583275 145583275 __UNKNOWN__ Intron SNP C C T rs369154606 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:145583275C>T ENST00000526752.1 + 1 241 SLC52A2_ENST00000526891.1_Intron|SLC52A2_ENST00000402965.1_Intron|SLC52A2_ENST00000530047.1_Intron|SLC52A2_ENST00000540505.1_Intron|SLC52A2_ENST00000527078.1_Intron|SLC52A2_ENST00000329994.2_Intron|SLC52A2_ENST00000532887.1_Intron Q9HAB3 S52A2_HUMAN solute carrier family 52 (riboflavin transporter), member 2 NA NA riboflavin transport (GO:0032218) integral component of plasma membrane (GO:0005887) riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618) NA Gamma Hydroxybutyric Acid(DB01440) CTCCTCCCTTCCCTGCAGGTT 0.632 NA NA NA NA NA NA NA NA NA NA NA 0 C 0,4406 0,0,2203 190 175 180 1.4 0 8 180 2,8598 2.2+/-6.3 0,2,4298 no intron GPR172A NM_024531.3 0,2,6501 TT,TC,CC 0.0233,0.0,0.0154 145583275 2,13004 2203 4300 6503 SO:0001627 intron_variant AY070774 CCDS6423.1 8q24.3 2013-07-17 2013-07-17 2012-02-29 ENSG00000185803 79581 Solute carriers 30224 protein-coding gene gene with protein product 607882 G protein-coupled receptor 172A GPR172A NA 12740431 Standard NM_024531 NM_024531 NA Approved FLJ11856, PAR1, GPCR41, D15Ertd747e, RFVT2, hRFT3 uc003zcd.2 Q9HAB3 ENST00000526752.1:c.130+192C>T chr8.hg19:g.145583275C>T NA A8K6B6|D3DWL8|G1UCY1|Q86UT1 hg19 0.02 1.619724 CTTxCCT COVERED NOVEL SLC52A2-012 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000382410.1 1 4.549015 KEEP 0 1 28 25 895 CC 0.999957 0.999913 0 + 8 60 279 0 0 19.650774 91 60 3324 147 ENST00000526752.1 0.080808 0.999956 SLC39A4 55630 __UNKNOWN__ __UNKNOWN__ 8 145639320 145639320 __UNKNOWN__ Intron SNP G G C rs736676 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:145639320G>C ENST00000301305.3 - 7 1393 SLC39A4_ENST00000276833.5_Intron NM_130849.2 NP_570901 Q6P5W5 S39A4_HUMAN solute carrier family 39 (zinc transporter), member 4 NA NA cellular response to zinc ion starvation (GO:0034224)|cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085) apical plasma membrane (GO:0016324)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) zinc ion transmembrane transporter activity (GO:0005385) endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 14 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055) CACCCGCCGGGTACCTTCCCA 0.657 NA G||| 1814 0.36222 0.3336 0.415 5008 , , NA 12934 0.2966 NA 0.4771 False NA ,,, NA NA NA 2504 0.3129 NA NA NA NA 0 G , 1614,2786 294,1026,880 17 17 17 , -8 0 8 dbSNP_86 17 4200,4384 1058,2084,1150 no intron,intron SLC39A4 NM_017767.2,NM_130849.2 , 1352,3110,2030 CC,CG,GG 48.9282,36.6818,44.7782 , , 145639320 5814,7170 2200 4292 6492 SO:0001627 intron_variant AK025537 CCDS6424.1, CCDS43782.1 8q24.3 2013-05-22 ENSG00000147804 ENSG00000147804 55630 Solute carriers 17129 protein-coding gene gene with protein product 607059 acrodermatitis enteropathica, zinc-deficiency type AEZ NA 12801924, 12659941, 14709598 Standard NM_017767 NA Approved ZIP4, AWMS2 uc003zcq.3 Q6P5W5 ENST00000301305.3:c.1287+21C>G chr8.hg19:g.145639320G>C NA Q7L5S5|Q9H6T8|Q9NXC4 hg19 CCDS6424.1 0.02 4.722877 CGGxTAC COVERED NOVEL SLC39A4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000382688.1 1 17.391815 KEEP 0 1 32 69 2456 GG 1 0.999999 0 - 9 60 336 0 0 24.01736 111 60 3902 244 ENST00000301305.3 0.075 0.999999 SLC39A4 55630 __UNKNOWN__ __UNKNOWN__ 8 145642194 145642194 __UNKNOWN__ 5'UTR SNP A A C rs77422016 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:145642194A>C ENST00000301305.3 - 0 85 NM_130849.2 NP_570901 Q6P5W5 S39A4_HUMAN solute carrier family 39 (zinc transporter), member 4 NA NA cellular response to zinc ion starvation (GO:0034224)|cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085) apical plasma membrane (GO:0016324)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) zinc ion transmembrane transporter activity (GO:0005385) endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 14 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055) CAGCGTGCTCAGTGGGTGTTG 0.692 NA A||| 304 0.0607029 0.0015 0.1499 5008 , , NA 16407 0.1925 NA 0.003 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 A 9,4367 0,9,2179 42 35 37 -6.6 0 8 dbSNP_131 37 16,8574 0,16,4279 no utr-5 SLC39A4 NM_130849.2 0,25,6458 CC,CA,AA 0.1863,0.2057,0.1928 145642194 25,12941 2188 4295 6483 SO:0001623 5_prime_UTR_variant AK025537 CCDS6424.1, CCDS43782.1 8q24.3 2013-05-22 ENSG00000147804 ENSG00000147804 55630 Solute carriers 17129 protein-coding gene gene with protein product 607059 acrodermatitis enteropathica, zinc-deficiency type AEZ NA 12801924, 12659941, 14709598 Standard NM_017767 NA Approved ZIP4, AWMS2 uc003zcq.3 Q6P5W5 ENST00000301305.3:c.-21T>G chr8.hg19:g.145642194A>C NA Q7L5S5|Q9H6T8|Q9NXC4 hg19 CCDS6424.1 0.02 4.549013 CTCxGTG COVERED NOVEL SLC39A4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000382688.1 2 21.664935 KEEP 0 0 0 72 2249 AA 1 0.999998 0 - 7 60 251 0 0 16.935946 110 60 4046 223 ENST00000301305.3 0.059829 0.999998 ZNF252P-AS1 286103 __UNKNOWN__ __UNKNOWN__ 8 146228593 146228593 __UNKNOWN__ RNA SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr8:146228593C>T ENST00000527067.1 + 0 397 NR_026974.1 Q0IIN9 ZNFS1_HUMAN ZNF252P antisense RNA 1 NA NA NA GGTGCACTGTCCCCCTCTCTC 0.632 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AK092777 8q24.3 2012-10-12 2012-08-15 2012-05-01 ENSG00000255559 ENSG00000255559 286103 Long non-coding RNAs 27821 non-coding RNA RNA, long non-coding chromosome 8 open reading frame 77, ZNF252P antisense RNA 1 (non-protein coding) C8orf77 NA 12477932 Standard NR_026974 NR_026974 NA Approved uc003zfb.4 Q0IIN9 OTTHUMG00000165204 ENST00000527067.1: chr8.hg19:g.146228593C>T NA Q8NAE8 hg19 0.02 26.032635 TGTxCCC COVERED . . . . . . . . . . c 5.660 0.306441 0.10733 . . ENSG00000255559 ENST00000527067 . . . 0.541 0.541 0.17168 . . . . . T 0.63977 0.2557 . . . . . . D 0.58970 0.984 D 0.63877 0.919 T 0.70557 -0.4839 4 . . . . . . . . 74 Q0IIN9 CH077_HUMAN F 74 . . S + 2 0 C8orf77 146199397 0.005000 0.15991 0.044000 0.18714 0.093000 0.18481 0.292000 0.19011 0.524000 0.28502 0.313000 0.20887 TCC NOVEL ZNF252P-AS1-001 KNOWN basic antisense NA antisense OTTHUMT00000382672.1 6 63.502498 KEEP 0 0 0 211 7450 CC 1 1 0 + 33 60 1181 0 0 78.212542 574 60 21400 1065 ENST00000527067.1 0.054366 1 FAM138C 654835 __UNKNOWN__ __UNKNOWN__ 9 35199 35199 __UNKNOWN__ lincRNA SNP A A G rs9408059 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:35199A>G ENST00000449442.2 - 0 403 family with sequence similarity 138, member C NA NA NA tgggaggctgaggtgggagga 0.438 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA 9p24.3 2013-01-30 ENSG00000218839 ENSG00000218839 654835 Long non-coding RNAs 32333 non-coding RNA RNA, long non-coding NA 11779631, 15233989 Standard NR_026822 NR_026822 NA Approved F379 uc003zfv.3 OTTHUMG00000019422 ENST00000449442.2: chr9.hg19:g.35199A>G NA hg19 0.02 -0.035093 CTGxGGT UNCOVERED . . . . . . . . . . A 1.738 -0.492428 0.04322 . . ENSG00000218839 ENST00000449442;ENST00000305248 . . . 0.185 -0.371 0.12525 . . . . . T 0.33990 0.0882 . . . 0.09310 N 1 . . . . . . T 0.31752 -0.9932 4 0.52906 T 0.07 . . . . . . . . P 28 . ENSP00000303458:S28P S - 1 0 FAM138C 25199 0.001000 0.12720 0.000000 0.03702 0.000000 0.00434 -0.686000 0.05161 -0.785000 0.04522 -0.782000 0.03352 TCA NOVEL FAM138C-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000051450.2 2 3.646051 KEEP 21 1 34 24 761 AA 0.99257 0.019833 0 - 2 23 76 0 0 7.350066 2 23 74 45 ENST00000449442.2 0.5 0.019982 FOXD4 2298 __UNKNOWN__ __UNKNOWN__ 9 117800 117800 __UNKNOWN__ Missense_Mutation SNP G G T rs2492217 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:117800G>T ENST00000382500.2 - 1 617 c.320C>A c.(319-321)tCc>tAc p.S107Y NM_207305.4 NP_997188.2 Q12950 FOXD4_HUMAN forkhead box D4 107 NA transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3) 14 all_lung(41;0.218) all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06) Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157) all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154) GATGTACGAGGAGGGGGGCTT 0.662 NA T||| 85 0.0169728 0.0083 0.0274 5008 , , NA 13564 0.0347 NA 0.005 False NA ,,, NA NA NA 2504 0.0153 NA NA NA NA 0 69 98 88 NA NA 9 NA 117800 2199 4299 6498 SO:0001583 missense U13223 CCDS34975.1 9p24.3 2014-09-17 ENSG00000170122 ENSG00000170122 2298 Forkhead boxes 3805 protein-coding gene gene with protein product 601092 FKHL9 NA 7957066, 8825632, 12234674 Standard NM_207305 NM_207305 NA Approved FREAC5, FOXD4a uc003zfz.4 Q12950 OTTHUMG00000021015 ENST00000382500.2:c.320C>A chr9.hg19:g.117800G>T ENSP00000371940:p.Ser107Tyr NA B2RN05|B9EGL7|Q5VVK1|Q8WXT6 hg19 CCDS34975.1 0.02 2.170169 GAGxAGG COVERED . . . . . . . . . . . 0.278 -0.988522 0.02162 . . ENSG00000170122 ENST00000382500 D 0.94723 -3.5 2.24 2.24 0.28232 Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4); 0.000000 0.34507 N 0.003917 T 0.58004 0.2092 N 0.00001 -3.725 0.26151 N 0.980136 B 0.02656 0.0 B 0.01281 0.0 T 0.71066 -0.4700 10 0.02654 T 1 . 7.4985 0.27503 0.0:0.0:0.22:0.78 rs2492217;rs2777287 107 Q12950 FOXD4_HUMAN Y 107 ENSP00000371940:S107Y ENSP00000371940:S107Y S - 2 0 FOXD4 107800 1.000000 0.71417 0.996000 0.52242 0.527000 0.34593 3.537000 0.53590 0.124000 0.18369 -1.316000 0.01300 TCC NOVEL FOXD4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055433.1 0 3.91271 KEEP 1 0 0 13 463 GG 0.994391 0.980622 0 - 6 40 191 0 0 13.544788 53 60 1963 95 ENST00000382500.2 0.101695 0.986153 C9orf66 157983 __UNKNOWN__ __UNKNOWN__ 9 215086 215086 __UNKNOWN__ Missense_Mutation SNP A A C rs147359731 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:215086A>C ENST00000382387.2 - 1 807 c.311T>G c.(310-312)cTt>cGt p.L104R DOCK8_ENST00000432829.2_Intron|DOCK8_ENST00000453981.1_Intron NM_152569.2 NP_689782.2 Q5T8R8 CI066_HUMAN chromosome 9 open reading frame 66 104 NA central_nervous_system(1)|cervix(1)|kidney(1)|skin(1) 4 all_lung(41;0.218) all_cancers(5;2.09e-12)|all_epithelial(5;6.16e-09)|all_lung(10;1.15e-08)|Lung NSC(10;1.91e-08)|Acute lymphoblastic leukemia(5;0.00457)|all_hematologic(5;0.0332)|Breast(48;0.0646)|Prostate(43;0.137) Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157) all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154) GCTGGTGTGAAGCGGAGCTTC 0.751 NA C||| 141 0.028155 0.0023 0.1282 5008 , , NA 9684 0.0 NA 0.0288 False NA ,,, NA NA NA 2504 0.0204 NA NA NA NA 0 C ,ARG/LEU 17,2943 0,17,1463 2 3 3 ,311 -0.9 0 9 dbSNP_134 3 162,6496 1,160,3168 no intron,missense DOCK8,C9orf66 NM_203447.3,NM_152569.2 ,102 1,177,4631 CC,CA,AA 2.4332,0.5743,1.8611 ,benign ,104/296 215086 179,9439 1480 3329 4809 SO:0001583 missense AK055720 CCDS6439.1 9p24.3 2008-02-05 ENSG00000183784 ENSG00000183784 157983 26436 protein-coding gene gene with protein product NA Standard NM_152569 NM_152569 NA Approved FLJ31158 uc003zge.4 Q5T8R8 OTTHUMG00000021017 ENST00000382387.2:c.311T>G chr9.hg19:g.215086A>C ENSP00000371824:p.Leu104Arg NA Q96NB0 hg19 CCDS6439.1 0.02 4.247429 TGAxGCG COVERED 70 0.03205128205128205 1 0.0020325203252032522 44 0.12154696132596685 0 0.0 25 0.032981530343007916 C 8.474 0.858147 0.17178 0.005743 0.024332 ENSG00000183784 ENST00000382387 T 0.21031 2.03 2.71 -0.861 0.10676 . . . . . T 0.00109 0.0003 N 0.08118 0 0.09310 N 0.999996 B 0.02656 0.0 B 0.01281 0.0 T 0.35251 -0.9796 9 0.87932 D 0 . 0.9622 0.01398 0.3824:0.2883:0.1888:0.1404 . 104 Q5T8R8 CI066_HUMAN R 104 ENSP00000371824:L104R ENSP00000371824:L104R L - 2 0 C9orf66 205086 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -2.140000 0.01301 -0.082000 0.12640 -0.358000 0.07595 CTT NOVEL C9orf66-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055436.1 1 12.33411 KEEP 0 0 0 41 1229 AA 1 0.999987 0 - 5 60 183 0 0 11.941034 101 60 3627 166 ENST00000382387.2 0.04717 0.999987 DOCK8 81704 __UNKNOWN__ __UNKNOWN__ 9 327996 327996 __UNKNOWN__ Intron SNP T T C rs2296827 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:327996T>C ENST00000469391.1 + 8 769 DOCK8_ENST00000432829.2_Intron|DOCK8_ENST00000453981.1_Intron NM_001190458.1|NM_001193536.1 NP_001177387.1|NP_001180465.1 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 NA NA blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264) cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020) guanyl-nucleotide exchange factor activity (GO:0005085) breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 65 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) GTCTAACTTATATTTCACTTT 0.378 NA T||| 414 0.0826677 0.0159 0.1671 5008 , , NA 21274 0.0843 NA 0.1581 False NA ,,, NA NA NA 2504 0.0337 NA NA NA NA 0 T ,, 169,4237 110.4+/-148.6 3,163,2037 79 79 79 ,, 2 0 9 dbSNP_100 79 1390,7210 270.4+/-288.9 125,1140,3035 no intron,intron,intron DOCK8 NM_001190458.1,NM_001193536.1,NM_203447.3 ,, 128,1303,5072 CC,CT,TT 16.1628,3.8357,11.9868 ,, ,, 327996 1559,11447 2203 4300 6503 SO:0001627 intron_variant AK090429 CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1 9p24.3 2014-09-17 ENSG00000107099 ENSG00000107099 81704 19191 protein-coding gene gene with protein product 611432 NA 11214971 Standard XM_036307 NM_203447 NA Approved FLJ00026, FLJ00152, ZIR8, FLJ00346 uc003zgf.2 Q8NF50 OTTHUMG00000078789 ENST00000469391.1:c.691-26T>C chr9.hg19:g.327996T>C NA A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2 hg19 CCDS55284.1 0.02 2.070534 TTAxATT COVERED NOVEL DOCK8-012 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000354646.1 0 2.70645 KEEP 0 0 0 9 252 TT 0.99254 0.978797 0 + 4 60 147 0 0 10.521229 47 60 1670 72 ENST00000469391.1 0.078431 0.986153 DOCK8 81704 __UNKNOWN__ __UNKNOWN__ 9 417990 417990 __UNKNOWN__ Intron SNP T T C rs7027996 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:417990T>C ENST00000469391.1 + 28 3479 DOCK8_ENST00000432829.2_Intron|DOCK8_ENST00000382329.1_Intron|DOCK8_ENST00000453981.1_Intron NM_001190458.1|NM_001193536.1 NP_001177387.1|NP_001180465.1 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 NA NA blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264) cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020) guanyl-nucleotide exchange factor activity (GO:0005085) breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 65 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) GACTGAGAAGTATCAGTCTCT 0.408 NA T||| 2160 0.43131 0.6331 0.415 5008 , , NA 20123 0.4663 NA 0.2684 False NA ,,, NA NA NA 2504 0.3016 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK090429 CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1 9p24.3 2014-09-17 ENSG00000107099 ENSG00000107099 81704 19191 protein-coding gene gene with protein product 611432 NA 11214971 Standard XM_036307 NM_203447 NA Approved FLJ00026, FLJ00152, ZIR8, FLJ00346 uc003zgf.2 Q8NF50 OTTHUMG00000078789 ENST00000469391.1:c.3401-78T>C chr9.hg19:g.417990T>C NA A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2 hg19 CCDS55284.1 0.02 9.352254 AAGxATC COVERED NOVEL DOCK8-012 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000354646.1 0 4.510525 KEEP 0 0 0 15 423 TT 0.99649 0.99649 0 + 9 60 348 0 0 23.059478 196 60 6864 265 ENST00000469391.1 0.043902 1 KANK1 23189 __UNKNOWN__ __UNKNOWN__ 9 676820 676820 __UNKNOWN__ Intron SNP A A G rs1570474 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:676820A>G ENST00000382303.1 + 6 569 RP11-130C19.3_ENST00000608097.1_RNA|KANK1_ENST00000382297.2_Intron|KANK1_ENST00000489369.1_Intron|RP11-130C19.3_ENST00000421645.2_RNA NM_001256876.1 NP_001243805.1 Q14678 KANK1_HUMAN KN motif and ankyrin repeat domains 1 NA NA negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587) beta-catenin binding (GO:0008013) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1) 43 Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128) Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222) CTTTGTAAACAGAAGTCTAAG 0.388 NA A||| 2936 0.586262 0.9183 0.5836 5008 , , NA 19598 0.5992 NA 0.3787 False NA ,,, NA NA NA 2504 0.3395 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL833161 CCDS6441.1, CCDS34976.1 9p24.3 2013-01-10 2008-01-29 2008-01-29 ENSG00000107104 ENSG00000107104 23189 KN motif and ankyrin repeat domain containing, Ankyrin repeat domain containing 19309 protein-coding gene gene with protein product 607704 ankyrin repeat domain 15 ANKRD15 NA 12133830, 17996375, 19554261 Standard NM_015158 NM_015158 NA Approved KIAA0172, KANK uc003zgn.2 Q14678 OTTHUMG00000019434 ENST00000382303.1:c.-83-70A>G chr9.hg19:g.676820A>G NA A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74 hg19 CCDS34976.1 0.02 6.381188 AACxGAA COVERED NOVEL KANK1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000051484.2 0 12.035891 KEEP 0 0 0 40 1255 AA 1 1 0 + 8 60 248 0 0 13.468974 229 60 8305 277 ENST00000382303.1 0.033755 1 KANK1 23189 __UNKNOWN__ __UNKNOWN__ 9 676954 676954 __UNKNOWN__ 5'UTR SNP T T C rs2296055 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:676954T>C ENST00000382303.1 + 0 634 RP11-130C19.3_ENST00000608097.1_RNA|KANK1_ENST00000382297.2_5'UTR|KANK1_ENST00000489369.1_3'UTR|RP11-130C19.3_ENST00000421645.2_RNA NM_001256876.1 NP_001243805.1 Q14678 KANK1_HUMAN KN motif and ankyrin repeat domains 1 NA NA negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587) beta-catenin binding (GO:0008013) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1) 43 Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128) Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222) TCTGGATCTCTCATTGGACTC 0.438 NA T||| 2321 0.463458 0.7345 0.3689 5008 , , NA 18085 0.5923 NA 0.2217 False NA ,,, NA NA NA 2504 0.2802 NA NA NA NA 0 T 2807,1599 665.2+/-401.5 903,1001,299 138 134 136 0.6 0 9 dbSNP_100 136 1884,6716 334.1+/-320.8 210,1464,2626 no utr-5 KANK1 NM_015158.2 1113,2465,2925 CC,CT,TT 21.907,36.2914,36.068 676954 4691,8315 2203 4300 6503 SO:0001623 5_prime_UTR_variant AL833161 CCDS6441.1, CCDS34976.1 9p24.3 2013-01-10 2008-01-29 2008-01-29 ENSG00000107104 ENSG00000107104 23189 KN motif and ankyrin repeat domain containing, Ankyrin repeat domain containing 19309 protein-coding gene gene with protein product 607704 ankyrin repeat domain 15 ANKRD15 NA 12133830, 17996375, 19554261 Standard NM_015158 NM_015158 NA Approved KIAA0172, KANK uc003zgn.2 Q14678 OTTHUMG00000019434 ENST00000382303.1:c.-19T>C chr9.hg19:g.676954T>C NA A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74 hg19 CCDS34976.1 0.02 24.266956 CTCxCAT COVERED NOVEL KANK1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000051484.2 3 59.280665 KEEP 0 0 0 197 6293 TT 1 1 0 + 27 60 944 0 0 58.59109 622 60 22990 1073 ENST00000382303.1 0.041602 1 KANK1 23189 __UNKNOWN__ __UNKNOWN__ 9 732219 732219 __UNKNOWN__ Intron SNP C C G rs59410096 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:732219C>G ENST00000382303.1 + 10 3657 KANK1_ENST00000382293.3_Intron|KANK1_ENST00000382297.2_Intron|KANK1_ENST00000489369.1_Intron NM_001256876.1 NP_001243805.1 Q14678 KANK1_HUMAN KN motif and ankyrin repeat domains 1 NA NA negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587) beta-catenin binding (GO:0008013) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1) 43 Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128) Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222) TCAAAACCACCAGGCATTTAA 0.348 NA C||| 556 0.111022 0.1399 0.2017 5008 , , NA 19082 0.003 NA 0.174 False NA ,,, NA NA NA 2504 0.0542 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL833161 CCDS6441.1, CCDS34976.1 9p24.3 2013-01-10 2008-01-29 2008-01-29 ENSG00000107104 ENSG00000107104 23189 KN motif and ankyrin repeat domain containing, Ankyrin repeat domain containing 19309 protein-coding gene gene with protein product 607704 ankyrin repeat domain 15 ANKRD15 NA 12133830, 17996375, 19554261 Standard NM_015158 NM_015158 NA Approved KIAA0172, KANK uc003zgn.2 Q14678 OTTHUMG00000019434 ENST00000382303.1:c.3006-159C>G chr9.hg19:g.732219C>G NA A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74 hg19 CCDS34976.1 0.02 5.504864 CACxAGG COVERED NOVEL KANK1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000051484.2 2 11.73865 KEEP 0 0 0 39 1407 CC 1 1 0 + 8 60 262 0 0 15.857724 170 60 6252 246 ENST00000382303.1 0.044944 1 KANK1 23189 __UNKNOWN__ __UNKNOWN__ 9 734854 734854 __UNKNOWN__ Intron SNP C C G rs28513939 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:734854C>G ENST00000382303.1 + 11 3985 KANK1_ENST00000382293.3_Intron|KANK1_ENST00000382297.2_Intron|KANK1_ENST00000489369.1_Intron NM_001256876.1 NP_001243805.1 Q14678 KANK1_HUMAN KN motif and ankyrin repeat domains 1 NA NA negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587) beta-catenin binding (GO:0008013) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1) 43 Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128) Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222) GACCTGCAAACACCATCCCCA 0.443 NA C||| 443 0.0884585 0.0567 0.1974 5008 , , NA 19069 0.003 NA 0.173 False NA ,,, NA NA NA 2504 0.0552 NA NA NA NA 0 C , 304,4102 164.4+/-196.0 15,274,1914 60 55 57 , 0.4 0 9 dbSNP_125 57 1503,7095 282.3+/-295.5 150,1203,2946 no intron,intron KANK1 NM_015158.2,NM_153186.3 , 165,1477,4860 GG,GC,CC 17.4808,6.8997,13.8957 , , 734854 1807,11197 2203 4299 6502 SO:0001627 intron_variant AL833161 CCDS6441.1, CCDS34976.1 9p24.3 2013-01-10 2008-01-29 2008-01-29 ENSG00000107104 ENSG00000107104 23189 KN motif and ankyrin repeat domain containing, Ankyrin repeat domain containing 19309 protein-coding gene gene with protein product 607704 ankyrin repeat domain 15 ANKRD15 NA 12133830, 17996375, 19554261 Standard NM_015158 NM_015158 NA Approved KIAA0172, KANK uc003zgn.2 Q14678 OTTHUMG00000019434 ENST00000382303.1:c.3333+19C>G chr9.hg19:g.734854C>G NA A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74 hg19 CCDS34976.1 0.02 37.165642 AAAxACC COVERED NOVEL KANK1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000051484.2 1 50.485838 KEEP 0 1 38 181 6397 CC 1 1 0 + 28 60 1086 0 0 69.758689 741 60 28105 1222 ENST00000382303.1 0.036411 1 KANK1 23189 __UNKNOWN__ __UNKNOWN__ 9 740901 740901 __UNKNOWN__ Silent SNP C C T rs2296049 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:740901C>T ENST00000382303.1 + 13 4315 c.3663C>T c.(3661-3663)ttC>ttT p.F1221F KANK1_ENST00000382293.3_Silent_p.F1063F|KANK1_ENST00000382297.2_Silent_p.F1221F|KANK1_ENST00000489369.1_3'UTR NM_001256876.1 NP_001243805.1 Q14678 KANK1_HUMAN KN motif and ankyrin repeat domains 1 1221 Interaction with KIF21A. NA negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587) beta-catenin binding (GO:0008013) p.F1063F(1) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1) 43 Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128) Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222) AAGAACTCTTCGGCTGTGGGG 0.572 NA T||| 1332 0.265974 0.413 0.317 5008 , , NA 19213 0.1716 NA 0.2117 False NA ,,, NA NA NA 2504 0.184 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) T , 1741,2665 521.4+/-370.5 354,1033,816 155 127 136 3663,3189 -5.9 0.3 9 dbSNP_100 136 1891,6709 334.6+/-321.1 223,1445,2632 no coding-synonymous,coding-synonymous KANK1 NM_015158.2,NM_153186.3 , 577,2478,3448 TT,TC,CC 21.9884,39.5143,27.9256 , 1221/1353,1063/1195 740901 3632,9374 2203 4300 6503 SO:0001819 synonymous_variant AL833161 CCDS6441.1, CCDS34976.1 9p24.3 2013-01-10 2008-01-29 2008-01-29 ENSG00000107104 ENSG00000107104 23189 KN motif and ankyrin repeat domain containing, Ankyrin repeat domain containing 19309 protein-coding gene gene with protein product 607704 ankyrin repeat domain 15 ANKRD15 NA 12133830, 17996375, 19554261 Standard NM_015158 NM_015158 NA Approved KIAA0172, KANK uc003zgn.2 Q14678 OTTHUMG00000019434 ENST00000382303.1:c.3663C>T chr9.hg19:g.740901C>T NA A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74 hg19 CCDS34976.1 0.02 19.009517 CTTxGGC COVERED NOVEL KANK1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000051484.2 0 17.591214 KEEP 0 4 124 102 3376 CC 1 1 0 + 12 60 442 0 0 25.606209 465 60 15746 690 ENST00000382303.1 0.025157 1 DMRT1 1761 __UNKNOWN__ __UNKNOWN__ 9 841825 841825 __UNKNOWN__ 5'UTR SNP C C T rs3739584 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:841825C>T ENST00000382276.3 + 0 136 NM_021951.2 NP_068770.2 Q9Y5R6 DMRT1_HUMAN doublesex and mab-3 related transcription factor 1 NA NA cell morphogenesis (GO:0000902)|germ cell migration (GO:0008354)|intracellular signal transduction (GO:0035556)|male germ cell proliferation (GO:0002176)|male sex determination (GO:0030238)|male sex differentiation (GO:0046661)|negative regulation of meiosis (GO:0045835)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oocyte development (GO:0048599)|positive regulation of male gonad development (GO:2000020)|positive regulation of meiosis I (GO:0060903)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of nodal signaling pathway (GO:1900107)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) large_intestine(2)|lung(10)|ovary(1) 13 all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232) Lung(218;0.037) GCTCGCACTTCTCCTAGGGGC 0.687 NA C||| 1128 0.22524 0.0923 0.2017 5008 , , NA 15334 0.4702 NA 0.1243 False NA ,,, NA NA NA 2504 0.273 NA NA NA NA 0 C 474,3916 32,410,1753 14 13 13 2.1 0 9 dbSNP_107 13 1199,7391 85,1029,3181 no utr-5 DMRT1 NM_021951.2 117,1439,4934 TT,TC,CC 13.9581,10.7973,12.8891 841825 1673,11307 2195 4295 6490 SO:0001623 5_prime_UTR_variant AF130728 CCDS6442.1 9p24.3 2014-01-21 ENSG00000137090 ENSG00000137090 1761 2934 protein-coding gene gene with protein product DM domain expressed in testis 1 602424 NA 9490411, 10332030 Standard NM_021951 XM_006716732 NA Approved DMT1, CT154 uc003zgv.3 Q9Y5R6 OTTHUMG00000019435 ENST00000382276.3:c.-14C>T chr9.hg19:g.841825C>T NA B2R913|Q6T1H8|Q6T1H9|Q8IW77 hg19 CCDS6442.1 0.02 10.351599 CTTxTCC COVERED NOVEL DMRT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000051489.2 2 10.834872 KEEP 0 0 0 36 1265 CC 0.999999 0.999999 0 + 9 60 325 0 0 19.816856 251 60 9491 347 ENST00000382276.3 0.034615 1 SMARCA2 6595 __UNKNOWN__ __UNKNOWN__ 9 2039973 2039973 __UNKNOWN__ Intron SNP C C T rs10964527 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:2039973C>T ENST00000382194.1 + 3 794 SMARCA2_ENST00000349721.2_Intron|SMARCA2_ENST00000382203.1_Intron|SMARCA2_ENST00000357248.2_Intron P51531 SMCA2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 NA NA aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355) intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514) ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212) breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) ACCAAAACACCGGGTTGTTAA 0.473 NA C||| 870 0.173722 0.0719 0.1196 5008 , , NA 18416 0.4415 NA 0.0885 False NA ,,, NA NA NA 2504 0.1616 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D26155 CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1 9p24.3 2008-11-11 2006-11-09 ENSG00000080503 ENSG00000080503 6595 11098 protein-coding gene gene with protein product 600014 SNF2L2 NA 8012116 Standard NM_003070 NM_003070 NA Approved BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2 uc003zhc.3 P51531 OTTHUMG00000019445 ENST00000382194.1:c.790+73C>T chr9.hg19:g.2039973C>T NA B1ALG3|B1ALG4|D3DRH4|D3DRH5 hg19 CCDS34978.1 0.02 4.32994 CACxGGG COVERED NOVEL SMARCA2-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000051506.1 2 13.844187 KEEP 0 0 0 46 1575 CC 1 1 0 + 8 60 301 0 0 20.553555 134 60 4501 234 ENST00000382194.1 0.056338 1 SMARCA2 6595 __UNKNOWN__ __UNKNOWN__ 9 2123639 2123639 __UNKNOWN__ Intron SNP T T C rs3829070 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:2123639T>C ENST00000382194.1 + 26 3766 SMARCA2_ENST00000349721.2_Intron|SMARCA2_ENST00000382203.1_Intron|SMARCA2_ENST00000357248.2_Intron P51531 SMCA2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 NA NA aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355) intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514) ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212) breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) GGAAGTGACTTGGGGAAGTTG 0.502 NA T||| 1781 0.355631 0.531 0.2305 5008 , , NA 16498 0.5585 NA 0.1243 False NA ,,, NA NA NA 2504 0.2362 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D26155 CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1 9p24.3 2008-11-11 2006-11-09 ENSG00000080503 ENSG00000080503 6595 11098 protein-coding gene gene with protein product 600014 SNF2L2 NA 8012116 Standard NM_003070 NM_003070 NA Approved BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2 uc003zhc.3 P51531 OTTHUMG00000019445 ENST00000382194.1:c.3763-80T>C chr9.hg19:g.2123639T>C NA B1ALG3|B1ALG4|D3DRH4|D3DRH5 hg19 CCDS34978.1 0.02 2.288932 ACTxGGG COVERED NOVEL SMARCA2-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000051506.1 0 9.023491 KEEP 0 0 0 30 856 TT 0.999997 0.999859 0 + 4 60 148 0 0 9.58542 87 60 3072 128 ENST00000382194.1 0.043956 0.999862 VLDLR 7436 __UNKNOWN__ __UNKNOWN__ 9 2648177 2648177 __UNKNOWN__ Intron SNP G G T rs73640153 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:2648177G>T ENST00000382100.3 + 13 2178 VLDLR_ENST00000382099.2_Intron NM_003383.3 NP_003374.3 P98155 VLDLR_HUMAN very low density lipoprotein receptor NA NA cholesterol metabolic process (GO:0008203)|glycoprotein transport (GO:0034436)|lipid transport (GO:0006869)|memory (GO:0007613)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|positive regulation of dendrite development (GO:1900006)|positive regulation of protein kinase activity (GO:0045860)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|signal transduction (GO:0007165)|ventral spinal cord development (GO:0021517)|very-low-density lipoprotein particle clearance (GO:0034447) coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|very-low-density lipoprotein particle (GO:0034361) apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|glycoprotein binding (GO:0001948)|glycoprotein transporter activity (GO:0034437)|low-density lipoprotein receptor activity (GO:0005041)|reelin receptor activity (GO:0038025)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor activity (GO:0030229) breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 24 GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123) GTAGTGGCTTGTCATGTAATG 0.393 NA NA NA NA NA NA NA NA NA NA NA 0 40 46 44 NA NA 9 NA 2648177 2202 4300 6502 SO:0001627 intron_variant CCDS6446.1, CCDS34979.1 9p24 2014-01-24 ENSG00000147852 ENSG00000147852 7436 Low density lipoprotein receptors 12698 protein-coding gene gene with protein product 192977 NA 8294473 Standard NM_003383 XM_006716864 NA Approved CARMQ1, CHRMQ1, VLDLRCH uc003zhk.1 P98155 OTTHUMG00000019447 ENST00000382100.3:c.1823-31G>T chr9.hg19:g.2648177G>T NA B2RMZ7|D3DRH6|Q5VVF6 hg19 CCDS6446.1 0.02 5.021493 CTTxTCA COVERED NOVEL VLDLR-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000051519.2 1 2.817332 KEEP 0 1 27 19 513 GG 0.999863 0.999863 0 + 29 60 486 0 0 31.050204 118 60 3075 213 ENST00000382100.3 0.197279 1 VLDLR 7436 __UNKNOWN__ __UNKNOWN__ 9 2648199 2648199 __UNKNOWN__ Intron SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:2648199C>T ENST00000382100.3 + 13 2178 VLDLR_ENST00000382099.2_Intron NM_003383.3 NP_003374.3 P98155 VLDLR_HUMAN very low density lipoprotein receptor NA NA cholesterol metabolic process (GO:0008203)|glycoprotein transport (GO:0034436)|lipid transport (GO:0006869)|memory (GO:0007613)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|positive regulation of dendrite development (GO:1900006)|positive regulation of protein kinase activity (GO:0045860)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|signal transduction (GO:0007165)|ventral spinal cord development (GO:0021517)|very-low-density lipoprotein particle clearance (GO:0034447) coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|very-low-density lipoprotein particle (GO:0034361) apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|glycoprotein binding (GO:0001948)|glycoprotein transporter activity (GO:0034437)|low-density lipoprotein receptor activity (GO:0005041)|reelin receptor activity (GO:0038025)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor activity (GO:0030229) p.?(1) breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 24 GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123) CAATTCTTTTCCTACCTAGAC 0.388 NA NA NA NA NA NA NA NA NA NA NA 1 Unknown(1) lung(1) 62 67 65 NA NA 9 NA 2648199 2203 4300 6503 SO:0001627 intron_variant CCDS6446.1, CCDS34979.1 9p24 2014-01-24 ENSG00000147852 ENSG00000147852 7436 Low density lipoprotein receptors 12698 protein-coding gene gene with protein product 192977 NA 8294473 Standard NM_003383 XM_006716864 NA Approved CARMQ1, CHRMQ1, VLDLRCH uc003zhk.1 P98155 OTTHUMG00000019447 ENST00000382100.3:c.1823-9C>T chr9.hg19:g.2648199C>T NA B2RMZ7|D3DRH6|Q5VVF6 hg19 CCDS6446.1 0.02 5.591928 TTTxCTA COVERED NOVEL VLDLR-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000051519.2 1 10.017993 KEEP 0 2 20 41 1281 CC 1 1 0 + 25 60 402 0 0 20.436957 176 60 5148 316 ENST00000382100.3 0.124378 1 KIAA0020 9933 __UNKNOWN__ __UNKNOWN__ 9 2823720 2823720 __UNKNOWN__ Intron SNP A A G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:2823720A>G ENST00000397885.2 - 12 1395 NM_014878.4 NP_055693.4 Q15397 K0020_HUMAN KIAA0020 NA NA endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730) poly(A) RNA binding (GO:0044822) NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1) 21 GBM - Glioblastoma multiforme(50;0.0319) ATTTTCTATAATAGACATGAA 0.224 NA NA NA NA NA NA NA NA NA NA NA 0 29 25 26 NA NA 9 NA 2823720 690 1526 2216 SO:0001627 intron_variant AL832239 CCDS6448.2 9p24.2 2012-11-29 ENSG00000080608 ENSG00000080608 9933 29676 protein-coding gene gene with protein product penguin homolog (Drosophila), minor histocompatibility antigen HA-8 609960 NA 7584026, 7584028, 21266351 Standard NM_014878 NM_014878 NA Approved XTP5, PEN, PUF6, hPUF-A, HA-8 uc003zhp.1 Q15397 OTTHUMG00000019450 ENST00000397885.2:c.1188+60T>C chr9.hg19:g.2823720A>G NA A8K804|Q547G7|Q5SZY9|Q6IB47|Q96B27|Q96L78|Q96L79|Q96L80 hg19 CCDS6448.2 0.02 -0.333362 ATAxTAG COVERED NOVEL KIAA0020-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000051529.3 0 4.814657 KEEP 0 0 0 16 504 AA 0.997832 0.850137 0 - 4 60 159 0 0 12.255882 34 60 1217 65 ENST00000397885.2 0.105263 0.851984 RFX3 5991 __UNKNOWN__ __UNKNOWN__ 9 3301600 3301600 __UNKNOWN__ Silent SNP C C T rs142527085 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:3301600C>T ENST00000382004.3 - 6 806 c.495G>A c.(493-495)acG>acA p.T165T RFX3_ENST00000358730.2_Silent_p.T165T|RFX3_ENST00000302303.1_Silent_p.T165T NM_001282116.1|NM_134428.1 NP_001269045.1|NP_602304.1 P48380 RFX3_HUMAN regulatory factor X, 3 (influences HLA class II expression) 165 NA cell maturation (GO:0048469)|cilium assembly (GO:0042384)|cilium-dependent cell motility (GO:0060285)|endocrine pancreas development (GO:0031018)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560) nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212) central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337) ACTTTTGCAGCGTCTCAATCG 0.403 NA C||| 10 0.00199681 0.0 0.0 5008 , , NA 16469 0.0099 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 C , 1,4405 2.1+/-5.4 0,1,2202 139 120 126 495,495 5.9 1 9 dbSNP_134 126 2,8596 2.2+/-6.3 0,2,4297 no coding-synonymous,coding-synonymous RFX3 NM_002919.2,NM_134428.1 , 0,3,6499 TT,TC,CC 0.0233,0.0227,0.0231 , 165/708,165/750 3301600 3,13001 2203 4299 6502 SO:0001819 synonymous_variant AI811824 CCDS6449.1, CCDS6450.1, CCDS75809.1 9p24.2 2008-02-05 ENSG00000080298 ENSG00000080298 5991 9984 protein-coding gene gene with protein product 601337 NA 8289803 Standard NM_002919 XM_005251534 NA Approved uc003zhr.3 P48380 OTTHUMG00000019456 ENST00000382004.3:c.495G>A chr9.hg19:g.3301600C>T NA A8K0H5|D3DRH8|D3DRH9|Q5JTL7|Q5JTL8|Q6NW13|Q8WTU4|Q95HL5|Q95HL6 hg19 CCDS6449.1 0.02 16.343086 CAGxGTC COVERED NOVEL RFX3-006 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000051545.1 2 20.466041 KEEP 0 0 0 68 2379 CC 1 1 0 - 13 60 468 0 0 27.719838 416 60 14228 609 ENST00000382004.3 0.030303 1 CDC37L1 55664 __UNKNOWN__ __UNKNOWN__ 9 4707519 4707519 __UNKNOWN__ 3'UTR SNP G G C rs7029799 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:4707519G>C ENST00000381854.3 + 0 2623 NM_017913.2 NP_060383.2 Q7L3B6 CD37L_HUMAN cell division cycle 37-like 1 NA NA cytoplasm (GO:0005737) breast(1)|kidney(1)|lung(2) 4 all_hematologic(13;0.137) Breast(48;0.238) GBM - Glioblastoma multiforme(50;0.0318) TTTTCGCTGAGGTGATCAGAC 0.428 NA G||| 942 0.188099 0.0295 0.111 5008 , , NA 18206 0.4226 NA 0.0875 False NA ,,, NA NA NA 2504 0.319 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK000497 CCDS6454.1 9p24.1 2013-01-17 2013-01-17 ENSG00000106993 ENSG00000106993 55664 17179 protein-coding gene gene with protein product 610346 CDC37 cell division cycle 37 homolog (S. cerevisiae)-like 1, cell division cycle 37 homolog (S. cerevisiae)-like 1 NA Standard NM_017913 NM_017913 NA Approved HARC, FLJ20639, CDC37B uc003zio.3 Q7L3B6 OTTHUMG00000019465 ENST00000381854.3:c.*1407G>C chr9.hg19:g.4707519G>C NA B1AL70|Q9NWS3|Q9NX16 hg19 CCDS6454.1 0.02 8.469311 TGAxGTG COVERED NOVEL CDC37L1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000051564.1 4 19.563806 KEEP 0 0 0 65 2309 GG 1 1 0 + 10 60 356 0 0 22.595176 216 60 8142 373 ENST00000381854.3 0.044248 1 RCL1 10171 __UNKNOWN__ __UNKNOWN__ 9 4849647 4849647 __UNKNOWN__ Intron SNP T T C rs17803780 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:4849647T>C ENST00000381750.4 + 8 1194 RCL1_ENST00000448872.2_Intron|RCL1_ENST00000381730.1_Intron|RCL1_ENST00000381728.1_Intron NM_005772.3 NP_005763.3 Q9Y2P8 RCL1_HUMAN RNA terminal phosphate cyclase-like 1 NA NA ribosome biogenesis (GO:0042254)|RNA processing (GO:0006396) nucleolus (GO:0005730) catalytic activity (GO:0003824) breast(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 9 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147) GBM - Glioblastoma multiforme(50;0.0244) GCCTGCACTATGAACACCTGC 0.393 NA T||| 1228 0.245208 0.1097 0.1873 5008 , , NA 22142 0.5486 NA 0.1869 False NA ,,, NA NA NA 2504 0.2168 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ276894 CCDS6456.1, CCDS69565.1, CCDS75810.1 9p24.1-p23 2008-02-05 ENSG00000120158 ENSG00000120158 10171 17687 protein-coding gene gene with protein product 611405 NA Standard NM_005772 NM_001286701 NA Approved RPCL1, RNAC uc003zis.2 Q9Y2P8 OTTHUMG00000019474 ENST00000381750.4:c.971+97T>C chr9.hg19:g.4849647T>C NA D3DRI2|Q5VYW9|Q5VZU1|Q9H9D0|Q9NY00|Q9P044 hg19 CCDS6456.1 0.02 5.203208 CTAxGAA COVERED NOVEL RCL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000051587.1 0 9.628691 KEEP 0 0 0 32 997 TT 0.999997 0.999997 0 + 11 60 341 0 0 21.75608 156 60 5733 211 ENST00000381750.4 0.065868 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 5311725 5311725 __UNKNOWN__ IGR SNP C C T rs372313378 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:5311725C>T NA NA RLN2 (6756 upstream) : RLN1 (23243 downstream) NA NA NA GAAGTGTGTGCATTTTTGATA 0.368 NA C||| 12 0.00239617 0.0008 0.0 5008 , , NA 17336 0.0109 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.5311725C>T NA hg19 0.02 4.237832 GTGxATT COVERED NOVEL 0 1 10.534097 KEEP 0 0 0 35 1236 CC 0.999999 0.999988 0 6 60 193 0 0 12.364565 101 60 3949 186 0.056075 0.999989 CD274 29126 __UNKNOWN__ __UNKNOWN__ 9 5467955 5467955 __UNKNOWN__ 3'UTR SNP G G A rs2297136 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:5467955G>A ENST00000381577.3 + 0 1052 CD274_ENST00000381573.4_3'UTR NM_014143.3 NP_054862.1 Q9NZQ7 PD1L1_HUMAN CD274 molecule NA NA cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of T cell proliferation (GO:0042102)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295) external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1) 11 all_hematologic(13;0.158) Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000742)|Lung(218;0.111) GAAGGAATGGGCCCGTGGGAT 0.502 NA T CIITA PMBL, Hodgkin Lymphona, G||| 3348 0.66853 0.6581 0.6556 5008 , , NA 18593 0.8105 NA 0.5467 False NA ,,, NA NA NA 2504 0.6708 NA NA NA Dom yes 9 9p24 29126 CD274 molecule L 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF177937 CCDS6464.1, CCDS59118.1 9p24.1 2014-01-30 2006-03-28 2005-02-25 ENSG00000120217 ENSG00000120217 29126 CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Endogenous ligands 17635 protein-coding gene gene with protein product B7 homolog 1 605402 programmed cell death 1 ligand 1, CD274 antigen PDCD1LG1 NA 11015443, 10581077 Standard NM_014143 NM_014143 NA Approved B7-H, B7H1, PD-L1, PDL1, B7-H1 uc003zje.3 Q9NZQ7 OTTHUMG00000019503 ENST00000381577.3:c.*93G>A chr9.hg19:g.5467955G>A NA B2RBA2|B4DU27|Q14CJ2|Q2V8D5|Q66RK1|Q6WEX4|Q9NUZ5 hg19 CCDS6464.1 0.02 9.955521 TGGxCCC COVERED NOVEL CD274-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000051631.2 0 11.871579 KEEP 0 1 30 50 1758 GG 1 1 0 + 8 60 287 1 0 16.571194 287 60 10618 397 ENST00000381577.3 0.027119 1 RANBP6 26953 __UNKNOWN__ __UNKNOWN__ 9 6015011 6015011 __UNKNOWN__ Silent SNP T T C rs343500 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:6015011T>C ENST00000259569.5 - 1 607 c.597A>G c.(595-597)acA>acG p.T199T RANBP6_ENST00000485372.1_Intron NM_001243202.1|NM_001243203.1|NM_012416.3 NP_001230131.1|NP_001230132.1|NP_036548.1 O60518 RNBP6_HUMAN RAN binding protein 6 199 NA protein transport (GO:0015031) cytoplasm (GO:0005737)|nucleus (GO:0005634) p.T199T(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 51 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101) TAGCGGATAATGTCCTGATTG 0.428 NA T||| 756 0.150958 0.3192 0.0245 5008 , , NA 23481 0.2183 NA 0.0159 False NA ,,, NA NA NA 2504 0.0828 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) T 1203,3203 418.9+/-338.5 159,885,1159 93 84 87 597 -7.2 0.9 9 dbSNP_79 87 85,8515 50.2+/-110.2 0,85,4215 no coding-synonymous RANBP6 NM_012416.3 159,970,5374 CC,CT,TT 0.9884,27.3037,9.9031 199/1106 6015011 1288,11718 2203 4300 6503 SO:0001819 synonymous_variant AF039023 CCDS6467.1 9p24.1 2008-03-26 ENSG00000137040 ENSG00000137040 26953 9851 protein-coding gene gene with protein product NA Standard NM_012416 NM_001243202 NA Approved uc003zjr.3 O60518 OTTHUMG00000019512 ENST00000259569.5:c.597A>G chr9.hg19:g.6015011T>C NA Q5T7X4|Q7Z3V2|Q96E78 hg19 CCDS6467.1 0.02 13.91244 TAAxGTC COVERED NOVEL RANBP6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000051650.1 3 49.644561 KEEP 0 0 0 165 5141 TT 1 1 0 - 10 60 356 0 0 20.351191 366 60 13547 672 ENST00000259569.5 0.026596 1 GLDC 2731 __UNKNOWN__ __UNKNOWN__ 9 6554844 6554844 __UNKNOWN__ Intron SNP G G C rs2274874 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:6554844G>C ENST00000321612.6 - 19 2353 NM_000170.2 NP_000161.2 P23378 GCSP_HUMAN glycine dehydrogenase (decarboxylating) NA NA glycine catabolic process (GO:0006546) mitochondrion (GO:0005739) electron carrier activity (GO:0009055)|glycine dehydrogenase (decarboxylating) activity (GO:0004375)|lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170) cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 Acute lymphoblastic leukemia(23;0.161) GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134) Glycine(DB00145) CCAGTGTGAAGGCCATGGCTG 0.557 NA G||| 1354 0.270367 0.2428 0.2378 5008 , , NA 17955 0.4246 NA 0.1272 False NA ,,, NA NA NA 2504 0.319 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D90239 CCDS34987.1 9p22 2014-09-17 2006-05-22 ENSG00000178445 ENSG00000178445 2731 1.4.4.2 4313 protein-coding gene gene with protein product glycine cleavage system protein P, glycine decarboxylase 238300 glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P) NA 1993704, 1996985 Standard NM_000170 NM_000170 NA Approved GCSP, NKH uc003zkc.3 P23378 OTTHUMG00000019524 ENST00000321612.6:c.2203-63C>G chr9.hg19:g.6554844G>C NA Q2M2F8 hg19 CCDS34987.1 0.02 1.80079 GAAxGCC COVERED NOVEL GLDC-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000051674.2 1 2.543375 KEEP 0 1 33 20 710 GG 0.999869 0.994953 0 - 4 60 136 0 0 8.9314 63 60 2383 116 ENST00000321612.6 0.059701 0.995084 KDM4C 23081 __UNKNOWN__ __UNKNOWN__ 9 6984172 6984172 __UNKNOWN__ Silent SNP G G A rs10815499 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:6984172G>A ENST00000381309.3 + 10 1687 c.1122G>A c.(1120-1122)caG>caA p.Q374Q KDM4C_ENST00000543771.1_Silent_p.Q374Q|KDM4C_ENST00000442236.2_Silent_p.Q193Q|KDM4C_ENST00000381306.3_Silent_p.Q374Q|KDM4C_ENST00000536108.1_Silent_p.Q193Q|KDM4C_ENST00000535193.1_Silent_p.Q396Q|KDM4C_ENST00000428870.2_Silent_p.Q61Q NM_015061.3 NP_055876.2 Q9H3R0 KDM4C_HUMAN lysine (K)-specific demethylase 4C 374 NA histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351) nuclear chromatin (GO:0000790) androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270) breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 43 ACAGCTTCCAGTGTGCTAGGT 0.468 NA G||| 464 0.0926518 0.0045 0.0533 5008 , , NA 20449 0.2381 NA 0.0368 False NA ,,, NA NA NA 2504 0.1472 NA NA NA NA 0 G ,,, 68,4338 62.3+/-99.4 1,66,2136 93 87 89 1122,1122,1188,1122 3.5 0.6 9 dbSNP_120 89 370,8230 122.0+/-181.0 9,352,3939 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous KDM4C NM_001146694.1,NM_001146695.1,NM_001146696.1,NM_015061.3 ,,, 10,418,6075 AA,AG,GG 4.3023,1.5433,3.3677 ,,, 374/1048,374/814,396/836,374/1057 6984172 438,12568 2203 4300 6503 SO:0001819 synonymous_variant AB018323 CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1 9p24-p23 2013-01-23 2009-04-06 2009-04-06 ENSG00000107077 ENSG00000107077 23081 Chromatin-modifying enzymes / K-demethylases, Tudor domain containing 17071 protein-coding gene gene with protein product tudor domain containing 14C 605469 jumonji domain containing 2C JMJD2C NA 9872452, 15138608 Standard NM_015061 NM_015061 NA Approved GASC1, KIAA0780, TDRD14C uc003zkh.3 Q9H3R0 OTTHUMG00000019536 ENST00000381309.3:c.1122G>A chr9.hg19:g.6984172G>A NA B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3 hg19 CCDS6471.1 0.02 9.355278 CCAxTGT COVERED NOVEL KDM4C-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000051692.1 1 8.72855 KEEP 0 0 0 29 1056 GG 0.999997 0.999997 0 + 12 60 446 0 0 30.204439 204 60 7850 309 ENST00000381309.3 0.055556 1 TMEM261 90871 __UNKNOWN__ __UNKNOWN__ 9 7799787 7799787 __UNKNOWN__ 5'UTR SNP C C T rs2297554 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:7799787C>T ENST00000358227.4 - 0 280 TMEM261_ENST00000484082.1_Intron NM_033428.1 NP_219500.1 Q96GE9 TM261_HUMAN transmembrane protein 261 NA NA integral component of membrane (GO:0016021) NA CTGGCGTAAACGACGCACCGG 0.582 NA c||| 349 0.0696885 0.0068 0.0288 5008 , , NA 10129 0.1835 NA 0.0318 False NA ,,, NA NA NA 2504 0.1053 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant BC009510 CCDS34989.1 9p24.1 2014-02-21 2013-09-11 2013-09-11 ENSG00000137038 ENSG00000137038 90871 30536 protein-coding gene gene with protein product chromosome 9 open reading frame 123 C9orf123 NA 21666724 Standard NM_033428 NM_033428 NA Approved MGC4730 uc003zkj.3 Q96GE9 OTTHUMG00000019539 ENST00000358227.4:c.-53G>A chr9.hg19:g.7799787C>T NA A8K9B7|Q5T6Y9|Q9NT74 hg19 CCDS34989.1 0.02 6.912081 AAAxGAC COVERED NOVEL TMEM261-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000051705.1 3 17.454963 KEEP 0 0 0 58 2001 CC 1 1 0 - 9 60 320 0 0 21.429501 145 60 4978 274 ENST00000358227.4 0.058442 1 PTPRD 5789 __UNKNOWN__ __UNKNOWN__ 9 8518143 8518143 __UNKNOWN__ Silent SNP T T C rs7026388 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:8518143T>C ENST00000381196.4 - 18 1791 c.1248A>G c.(1246-1248)gcA>gcG p.A416A PTPRD_ENST00000397606.3_Silent_p.A406A|PTPRD_ENST00000540109.1_Silent_p.A416A|PTPRD_ENST00000356435.5_Silent_p.A416A|PTPRD_ENST00000537002.1_Silent_p.A413A|PTPRD_ENST00000397611.3_Silent_p.A413A|PTPRD_ENST00000360074.4_Silent_p.A403A|PTPRD_ENST00000358503.5_Silent_p.A403A|PTPRD_ENST00000355233.5_Silent_p.A416A|PTPRD_ENST00000486161.1_Silent_p.A416A|PTPRD_ENST00000397617.3_Silent_p.A406A NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 416 NA heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185) extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887) cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001) NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) CACTGGATGGTGCTTGCTCTG 0.517 NA TSP Lung(15;0.13) C||| 1539 0.307308 0.4418 0.2695 5008 , , NA 18246 0.3919 NA 0.164 False NA ,,, NA NA NA 2504 0.2127 NA NA NA NA 0 C ,,,,, 1682,2724 653.8+/-399.6 330,1022,851 162 155 157 1239,1218,1248,1248,1248,1230 -10.6 0.4 9 dbSNP_116 157 1345,7255 756.3+/-407.5 115,1115,3070 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous PTPRD NM_001040712.2,NM_001171025.1,NM_002839.3,NM_130391.3,NM_130392.3,NM_130393.3 ,,,,, 445,2137,3921 CC,CT,TT 15.6395,38.1752,23.2739 ,,,,, 413/1503,406/1506,416/1913,416/1506,416/1507,410/1497 8518143 3027,9979 2203 4300 6503 SO:0001819 synonymous_variant X54133 CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1 9p24.1-p23 2013-02-11 ENSG00000153707 ENSG00000153707 5789 Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing 9668 protein-coding gene gene with protein product 601598 NA 7896816, 8355697 Standard NM_002839 NA Approved PTPD, HPTP uc003zkk.3 P23468 OTTHUMG00000021005 ENST00000381196.4:c.1248A>G chr9.hg19:g.8518143T>C NA B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2 hg19 CCDS43786.1 0.02 15.087836 TGGxGCT COVERED NOVEL PTPRD-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055395.3 3 20.753988 KEEP 0 0 0 69 2021 TT 1 1 0 - 12 60 436 0 0 26.376442 356 60 12019 528 ENST00000381196.4 0.032609 1 PTPRD 5789 __UNKNOWN__ __UNKNOWN__ 9 8528506 8528506 __UNKNOWN__ Intron SNP A A G rs10758978 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:8528506A>G ENST00000381196.4 - 12 1085 PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000540109.1_Intron|PTPRD_ENST00000356435.5_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000360074.4_Intron|PTPRD_ENST00000358503.5_Intron|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000463477.1_Intron|PTPRD_ENST00000397617.3_Intron NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D NA NA heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185) extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887) cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001) NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) gaaataaaaaataaattaaaa 0.323 NA TSP Lung(15;0.13) A||| 707 0.141174 0.0915 0.1398 5008 , , NA 13593 0.2956 NA 0.1044 False NA ,,, NA NA NA 2504 0.0879 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X54133 CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1 9p24.1-p23 2013-02-11 ENSG00000153707 ENSG00000153707 5789 Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing 9668 protein-coding gene gene with protein product 601598 NA 7896816, 8355697 Standard NM_002839 NA Approved PTPD, HPTP uc003zkk.3 P23468 OTTHUMG00000021005 ENST00000381196.4:c.541+84T>C chr9.hg19:g.8528506A>G NA B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2 hg19 CCDS43786.1 0.02 3.941561 AAAxTAA COVERED NOVEL PTPRD-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055395.3 2 16.246418 KEEP 0 0 0 54 1669 AA 1 0.999998 0 - 5 60 181 0 0 11.500745 113 60 4014 196 ENST00000381196.4 0.042373 0.999998 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 12287727 12287727 __UNKNOWN__ IGR SNP C C T rs1416581 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:12287727C>T NA NA RP11-74C3.1 (128580 upstream) : RNU2-47P (12538 downstream) NA NA NA ATTGTGTTACCGCAGTGCGCA 0.413 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.12287727C>T NA hg19 0.02 4.132092 TACxGCA COVERED NOVEL 0 0 2.407789 KEEP 0 0 0 8 275 CC 0.99257 0.992569 0 5 60 180 0 0 11.381966 114 60 3918 132 0.042017 0.999998 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 12287871 12287871 __UNKNOWN__ IGR SNP G G C rs1416582 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:12287871G>C NA NA RP11-74C3.1 (128724 upstream) : RNU2-47P (12394 downstream) NA NA NA TGATTTAAAAGTATTTATGCA 0.363 NA G||| 1629 0.32528 0.3003 0.389 5008 , , NA 19657 0.3919 NA 0.2505 False NA ,,, NA NA NA 2504 0.3221 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.12287871G>C NA hg19 0.02 4.152761 AAAxTAT COVERED NOVEL 0 1 4.514886 KEEP 0 0 0 15 546 GG 0.99649 0.99649 0 5 60 190 0 0 12.218571 123 60 4658 172 0.039062 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 12288083 12288083 __UNKNOWN__ IGR SNP C C G rs7872992 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:12288083C>G NA NA RP11-74C3.1 (128936 upstream) : RNU2-47P (12182 downstream) NA NA NA ACTTCATGCCCGTAGAAAAAC 0.388 NA C||| 1074 0.214457 0.4206 0.1311 5008 , , NA 16927 0.1181 NA 0.1491 False NA ,,, NA NA NA 2504 0.1616 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.12288083C>G NA hg19 0.02 4.745458 GCCxGTA COVERED NOVEL 0 4 6.019243 KEEP 0 0 0 20 680 CC 0.999863 0.99985 0 6 60 205 0 0 13.363244 100 60 3543 163 0.056604 0.999987 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 12288197 12288197 __UNKNOWN__ IGR SNP G G C rs7873355 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:12288197G>C NA NA RP11-74C3.1 (129050 upstream) : RNU2-47P (12068 downstream) NA NA NA AAAATGTACTGAACTTTCACA 0.393 NA G||| 2312 0.461661 0.4539 0.4928 5008 , , NA 19004 0.503 NA 0.3956 False NA ,,, NA NA NA 2504 0.4755 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.12288197G>C NA hg19 0.02 -0.394797 ACTxAAC COVERED NOVEL 0 0 2.708772 KEEP 0 0 0 9 310 GG 0.99254 0.919727 0 4 60 149 0 0 10.947528 41 60 1533 56 0.088889 0.92664 MPDZ 8777 __UNKNOWN__ __UNKNOWN__ 9 13106335 13106335 __UNKNOWN__ 3'UTR SNP G G A rs722651 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:13106335G>A ENST00000541718.1 - 0 6976 MPDZ_ENST00000381022.2_3'UTR|MPDZ_ENST00000319217.7_3'UTR NM_001261407.1|NM_003829.4 NP_001248336.1|NP_003820.2 O75970 MPDZ_HUMAN multiple PDZ domain protein NA NA cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032) apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923) protein C-terminus binding (GO:0008022) NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2) 61 GBM - Glioblastoma multiforme(50;2.03e-06) ATTGCTTCATGTATTTGCCAT 0.259 NA A||| 2025 0.404353 0.3638 0.4496 5008 , , NA 13729 0.4851 NA 0.3569 False NA ,,, NA NA NA 2504 0.3926 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF093419 CCDS47951.1, CCDS59119.1, CCDS59120.1 9p23 2008-05-15 ENSG00000107186 ENSG00000107186 8777 7208 protein-coding gene gene with protein product 603785 NA Standard NM_003829 NM_003829 NA Approved MUPP1 uc003zlb.4 O75970 OTTHUMG00000021031 ENST00000541718.1:c.*629C>T chr9.hg19:g.13106335G>A NA A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790 hg19 CCDS47951.1 0.02 4.284419 CATxTAT COVERED NOVEL MPDZ-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000401076.1 0 9.027989 KEEP 0 0 0 30 1042 GG 0.999997 0.999993 0 - 7 60 258 0 0 17.743159 106 60 4016 162 ENST00000541718.1 0.061947 0.999995 MPDZ 8777 __UNKNOWN__ __UNKNOWN__ 9 13110844 13110844 __UNKNOWN__ Intron SNP T T C rs28455695 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:13110844T>C ENST00000541718.1 - 43 5859 MPDZ_ENST00000546205.1_Intron|MPDZ_ENST00000536827.1_Intron|MPDZ_ENST00000541093.1_Intron|MPDZ_ENST00000538841.1_Intron|MPDZ_ENST00000381022.2_Intron|MPDZ_ENST00000319217.7_Intron|MPDZ_ENST00000447879.1_Intron|MPDZ_ENST00000381015.4_Intron NM_001261407.1|NM_003829.4 NP_001248336.1|NP_003820.2 O75970 MPDZ_HUMAN multiple PDZ domain protein NA NA cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032) apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923) protein C-terminus binding (GO:0008022) NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2) 61 GBM - Glioblastoma multiforme(50;2.03e-06) ATGACATATATACTGCTACCA 0.423 NA T||| 395 0.0788738 0.0431 0.0965 5008 , , NA 16433 0.1607 NA 0.0656 False NA ,,, NA NA NA 2504 0.044 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF093419 CCDS47951.1, CCDS59119.1, CCDS59120.1 9p23 2008-05-15 ENSG00000107186 ENSG00000107186 8777 7208 protein-coding gene gene with protein product 603785 NA Standard NM_003829 NM_003829 NA Approved MUPP1 uc003zlb.4 O75970 OTTHUMG00000021031 ENST00000541718.1:c.5638-105A>G chr9.hg19:g.13110844T>C NA A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790 hg19 CCDS47951.1 0.02 2.10481 ATAxACT COVERED NOVEL MPDZ-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000401076.1 1 4.813703 KEEP 0 0 0 16 486 TT 0.997832 0.996826 0 - 4 60 157 0 0 10.761756 74 60 2445 109 ENST00000541718.1 0.051282 0.998993 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 13987043 13987043 __UNKNOWN__ IGR SNP C C T rs10961313 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:13987043C>T NA NA LINC00583 (41434 upstream) : RP11-284P20.3 (38926 downstream) NA NA NA AGGAGGAGCCCGAGGTGGATG 0.597 NA C||| 1376 0.27476 0.2663 0.3084 5008 , , NA 17150 0.2133 NA 0.2217 False NA ,,, NA NA NA 2504 0.3804 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.13987043C>T NA hg19 0.02 -0.342136 GCCxGAG COVERED NOVEL 0 1 3.912818 KEEP 0 0 0 13 465 CC 0.994391 0.860889 0 3 60 103 0 0 7.139839 36 60 1258 64 0.076923 0.865745 NFIB 4781 __UNKNOWN__ __UNKNOWN__ 9 14155950 14155950 __UNKNOWN__ Intron SNP T T C rs10810097 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:14155950T>C ENST00000397575.3 - 4 1174 NFIB_ENST00000543693.1_Intron|NFIB_ENST00000380924.1_Intron|NFIB_ENST00000397579.2_Intron|NFIB_ENST00000397581.2_Intron|NFIB_ENST00000380934.4_Intron|NFIB_ENST00000380959.3_Intron|NFIB_ENST00000380953.1_Intron O00712 NFIB_HUMAN nuclear factor I/B NA NA anterior commissure morphogenesis (GO:0021960)|chondrocyte differentiation (GO:0002062)|Clara cell differentiation (GO:0060486)|commissural neuron axon guidance (GO:0071679)|DNA replication (GO:0006260)|glial cell differentiation (GO:0010001)|hindbrain development (GO:0030902)|lung ciliated cell differentiation (GO:0061141)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000795)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|principal sensory nucleus of trigeminal nerve development (GO:0021740)|transcription from RNA polymerase II promoter (GO:0006366)|Type I pneumocyte differentiation (GO:0060509)|Type II pneumocyte differentiation (GO:0060510) cerebellar mossy fiber (GO:0044300)|nucleolus (GO:0005730)|nucleus (GO:0005634) DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981) central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1) 17 GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164) AAATAAATGATTATACACTAG 0.264 NA T MYB, HGMA2 adenoid cystic carcinoma, lipoma T||| 329 0.0656949 0.0008 0.0375 5008 , , NA 15247 0.2579 NA 0.0129 False NA ,,, NA NA NA 2504 0.0297 NA NA NA Esophageal Squamous(132;921 1730 14828 40753 46471) Dom yes 9 9p24.1 4781 nuclear factor I/B E 0 20 18 18 NA NA 9 NA 14155950 689 1546 2235 SO:0001627 intron_variant U07810 CCDS6474.1, CCDS55291.1, CCDS55292.1, CCDS65007.1 9p24.1 2008-02-05 ENSG00000147862 ENSG00000147862 4781 7785 protein-coding gene gene with protein product 600728 NA 7590749 Standard NM_005596 NM_001190737 NA Approved NFI-RED, NFIB2, NFIB3 uc003zlf.3 O00712 OTTHUMG00000021027 ENST00000397575.3:c.617-58A>G chr9.hg19:g.14155950T>C NA G3V1P1|H7BYE8|O00166|Q12858|Q5VW29|Q63HM5|Q6ZNF9|Q96J45 hg19 0.02 -0.412271 TGAxTAT COVERED NOVEL NFIB-004 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000055471.1 0 3.009239 KEEP 0 0 0 10 324 TT 0.992708 0.934874 0 - 3 60 112 0 0 7.787345 44 60 1529 65 ENST00000397575.3 0.06383 0.941741 FREM1 158326 __UNKNOWN__ __UNKNOWN__ 9 14806902 14806902 __UNKNOWN__ Intron SNP G G A rs12683064 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:14806902G>A ENST00000380880.3 - 18 3872 FREM1_ENST00000380881.4_Intron|FREM1_ENST00000422223.2_Intron Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 NA NA cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094) basement membrane (GO:0005604)|integral component of membrane (GO:0016021) carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872) breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) AACAGACTGGGTAGGACAAAA 0.413 NA G||| 933 0.186302 0.028 0.2133 5008 , , NA 19491 0.4881 NA 0.0795 False NA ,,, NA NA NA 2504 0.18 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK058190 CCDS47952.1, CCDS55293.1 9p22.3 2010-06-04 2004-12-15 2004-12-15 ENSG00000164946 ENSG00000164946 158326 23399 protein-coding gene gene with protein product 608944 chromosome 9 open reading frame 154 C9orf154 NA 12838346, 15345741 Standard NM_144966 NM_144966 NA Approved FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR uc003zlm.3 Q5H8C1 OTTHUMG00000019575 ENST00000380880.3:c.3089-58C>T chr9.hg19:g.14806902G>A NA B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3 hg19 CCDS47952.1 0.02 3.760243 TGGxTAG COVERED NOVEL FREM1-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000339474.2 0 4.213461 KEEP 0 0 0 14 488 GG 0.995343 0.995343 0 - 8 60 294 0 0 19.656953 142 60 5325 181 ENST00000380880.3 0.053333 1 FREM1 158326 __UNKNOWN__ __UNKNOWN__ 9 14842658 14842658 __UNKNOWN__ Splice_Site SNP C C G rs41298151 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:14842658C>G ENST00000380880.3 - 9 2177 c.1394G>C c.(1393-1395)gGg>gCg p.G465A FREM1_ENST00000380881.4_Splice_Site_p.G466A|FREM1_ENST00000422223.2_Splice_Site_p.G465A Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 465 NA cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094) basement membrane (GO:0005604)|integral component of membrane (GO:0016021) carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872) breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) CCCTTTCCCCCCTGAGGGAGA 0.537 NA C||| 100 0.0199681 0.0151 0.0159 5008 , , NA 20138 0.0238 NA 0.008 False NA ,,, NA NA NA 2504 0.0378 NA NA NA NA 0 C ALA/GLY 43,4151 1,41,2055 50 54 53 1394 3.8 1 9 dbSNP_127 53 82,8362 1,80,4141 yes missense-near-splice FREM1 NM_144966.5 60 2,121,6196 GG,GC,CC 0.9711,1.0253,0.9891 possibly-damaging 465/2180 14842658 125,12513 2097 4222 6319 SO:0001630 splice_region_variant AK058190 CCDS47952.1, CCDS55293.1 9p22.3 2010-06-04 2004-12-15 2004-12-15 ENSG00000164946 ENSG00000164946 158326 23399 protein-coding gene gene with protein product 608944 chromosome 9 open reading frame 154 C9orf154 NA 12838346, 15345741 Standard NM_144966 NM_144966 NA Approved FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR uc003zlm.3 Q5H8C1 OTTHUMG00000019575 ENST00000380880.3:c.1394-1G>C chr9.hg19:g.14842658C>G NA B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3 hg19 CCDS47952.1 0.02 1.866126 CCCxCTG COVERED 28 0.01282051282051282 9 0.018292682926829267 4 0.011049723756906077 13 0.022727272727272728 2 0.002638522427440633 C 20.9 4.063174 0.76187 0.010253 0.009711 ENSG00000164946 ENST00000380881;ENST00000422223;ENST00000380880 T;T;T 0.58506 0.33;0.33;0.33 5.63 3.76 0.43208 . 0.202129 0.52532 N 0.000068 T 0.59622 0.2207 M 0.85197 2.74 0.48571 D 0.999671 D 0.71674 0.998 P 0.62184 0.899 T 0.70135 -0.4955 10 0.49607 T 0.09 . 11.0026 0.47616 0.0:0.7991:0.1302:0.0707 rs41298151 465 Q5H8C1 FREM1_HUMAN A 466;465;465 ENSP00000370263:G466A;ENSP00000412940:G465A;ENSP00000370262:G465A ENSP00000370257:G468A G - 2 0 FREM1 14832658 1.000000 0.71417 0.995000 0.50966 0.873000 0.50193 4.638000 0.61353 0.830000 0.34757 -0.165000 0.13383 GGG NOVEL FREM1-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000339474.2 4 2.708804 KEEP 0 0 0 9 312 CC 0.99254 0.989724 0 Missense_Mutation - 4 60 140 0 0 9.230474 67 60 2339 84 ENST00000380880.3 0.056338 0.997163 TTC39B 158219 __UNKNOWN__ __UNKNOWN__ 9 15307090 15307090 __UNKNOWN__ Missense_Mutation SNP C C T rs202092498 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:15307090C>T ENST00000512701.2 - 1 268 c.232G>A c.(232-234)Gcg>Acg p.A78T TTC39B_ENST00000380850.4_Missense_Mutation_p.A78T|TTC39B_ENST00000355694.2_Missense_Mutation_p.A12T|TTC39B_ENST00000541445.1_Missense_Mutation_p.A12T|TTC39B_ENST00000297615.5_Missense_Mutation_p.A78T Q5VTQ0 TT39B_HUMAN tetratricopeptide repeat domain 39B 78 NA NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1) 21 ACCTCGTCCGCTTCCAGCTCC 0.657 NA C||| 23 0.00459265 0.0008 0.0 5008 , , NA 13361 0.0208 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 28 23 25 NA NA 9 NA 15307090 2203 4299 6502 SO:0001583 missense AK091187 CCDS6477.1, CCDS6477.2, CCDS55294.1, CCDS55295.1, CCDS55296.1 9p22.2 2013-01-11 2008-06-23 2008-06-23 ENSG00000155158 ENSG00000155158 158219 Tetratricopeptide (TTC) repeat domain containing 23704 protein-coding gene gene with protein product 613574 chromosome 9 open reading frame 52 C9orf52 NA Standard NM_152574 NM_001168339 NA Approved FLJ33868 uc003zlr.2 Q5VTQ0 OTTHUMG00000019581 ENST00000512701.2:c.232G>A chr9.hg19:g.15307090C>T ENSP00000422496:p.Ala78Thr NA A5PLN1|B4DQ10|B4DQX4|B4DW93|Q8IVR7|Q8IXZ6|Q8N267 hg19 CCDS6477.2 0.02 12.067152 CCGxTTC COVERED . . . . . . . . . . C 15.47 2.843838 0.51164 . . ENSG00000155158 ENST00000380850;ENST00000297615;ENST00000355694;ENST00000512701;ENST00000541445;ENST00000506891 T;T;T;T;T 0.57107 1.24;0.42;1.38;1.23;0.57 4.18 4.18 0.49190 . . . . . T 0.32852 0.0843 N 0.25647 0.755 0.33521 D 0.592359 B;P;P;B;B 0.37525 0.241;0.455;0.598;0.247;0.247 B;B;B;B;B 0.29176 0.093;0.063;0.099;0.063;0.063 T 0.39078 -0.9631 9 0.12766 T 0.61 -6.5586 12.1657 0.54129 0.0:1.0:0.0:0.0 . 78;78;78;12;12 F5H705;E9PAQ9;E9PE60;A5PLN1;Q5VTQ0 .;.;.;.;TT39B_HUMAN T 78;78;12;78;12;40 ENSP00000370231:A78T;ENSP00000297615:A78T;ENSP00000347920:A12T;ENSP00000422496:A78T;ENSP00000442880:A12T ENSP00000297615:A78T A - 1 0 TTC39B 15297090 0.996000 0.38824 0.998000 0.56505 0.873000 0.50193 1.988000 0.40697 2.323000 0.78572 0.313000 0.20887 GCG NOVEL TTC39B-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000051758.3 3 57.086429 KEEP 0 1 20 197 7111 CC 1 1 0 - 9 60 321 0 0 18.658543 306 60 11594 686 ENST00000512701.2 0.028571 1 SH3GL2 6456 __UNKNOWN__ __UNKNOWN__ 9 17781810 17781810 __UNKNOWN__ Intron SNP G G A rs9407871 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:17781810G>A ENST00000380607.4 + 4 307 SH3GL2_ENST00000537391.1_Intron NM_003026.2 NP_003017.1 Q99962 SH3G2_HUMAN SH3-domain GRB2-like 2 NA NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of receptor internalization (GO:0002090)|signal transduction (GO:0007165)|synaptic vesicle endocytosis (GO:0048488) clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|plasma membrane (GO:0005886) identical protein binding (GO:0042802)|lipid binding (GO:0008289) NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1) 26 GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203) ctttcagaaagcccagctcga 0.418 NA G||| 622 0.124201 0.1165 0.2046 5008 , , NA 18733 0.0774 NA 0.1243 False NA ,,, NA NA NA 2504 0.1258 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X99657 CCDS6483.1 9p22 2008-02-05 ENSG00000107295 ENSG00000107295 6456 10831 protein-coding gene gene with protein product 604465 NA 9169142 Standard NM_003026 XM_005251549 NA Approved SH3P4, SH3D2A, CNSA2, EEN-B1 uc003zna.3 Q99962 OTTHUMG00000019601 ENST00000380607.4:c.188-4569G>A chr9.hg19:g.17781810G>A NA B2R618|Q9NQK5 hg19 CCDS6483.1 0.02 8.049526 AAAxCCC COVERED NOVEL SH3GL2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000051796.1 1 10.468682 KEEP 0 1 29 45 1642 GG 1 1 0 + 8 60 288 0 0 17.396333 232 60 8768 371 ENST00000380607.4 0.033333 1 ADAMTSL1 92949 __UNKNOWN__ __UNKNOWN__ 9 18718528 18718528 __UNKNOWN__ Intron SNP T T C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:18718528T>C ENST00000276935.6 + 15 1876 ADAMTSL1_ENST00000380548.4_Intron Q8N6G6 ATL1_HUMAN ADAMTS-like 1 NA NA proteinaceous extracellular matrix (GO:0005578) metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) TCATGCATGATGCAAACTTGT 0.483 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF176313 CCDS6485.1, CCDS47954.1 9p21.3 2013-01-11 ENSG00000178031 ENSG00000178031 92949 Immunoglobulin superfamily / I-set domain containing 14632 protein-coding gene gene with protein product punctin 609198 chromosome 9 open reading frame 94 C9orf94 NA 9628581, 11805097 Standard NM_001040272 NA Approved ADAMTSR1, FLJ35283 uc003zne.4 Q8N6G6 OTTHUMG00000019604 ENST00000276935.6:c.1877-3006T>C chr9.hg19:g.18718528T>C NA A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3 hg19 0.02 6.715666 TGAxGCA COVERED NOVEL ADAMTSL1-005 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000051804.5 0 6.318477 KEEP 0 0 0 21 640 TT 0.999869 0.999869 0 + 7 60 255 0 0 16.264477 158 60 5778 230 ENST00000276935.6 0.042424 1 ADAMTSL1 92949 __UNKNOWN__ __UNKNOWN__ 9 18890446 18890446 __UNKNOWN__ Intron SNP A A G rs386733326|rs7026374 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:18890446A>G ENST00000380548.4 + 25 4982 ADAMTSL1_ENST00000380545.5_Intron NM_001040272.5 NP_001035362.3 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 NA NA proteinaceous extracellular matrix (GO:0005578) metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) GCACTGGTGCAGTGCTGAGAG 0.483 NA G||| 3751 0.749002 0.9274 0.6124 5008 , , NA 18058 0.6567 NA 0.6759 False NA ,,, NA NA NA 2504 0.7751 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF176313 CCDS6485.1, CCDS47954.1 9p21.3 2013-01-11 ENSG00000178031 ENSG00000178031 92949 Immunoglobulin superfamily / I-set domain containing 14632 protein-coding gene gene with protein product punctin 609198 chromosome 9 open reading frame 94 C9orf94 NA 9628581, 11805097 Standard NM_001040272 NA Approved ADAMTSR1, FLJ35283 uc003zne.4 Q8N6G6 OTTHUMG00000019604 ENST00000380548.4:c.4643+700A>G chr9.hg19:g.18890446A>G NA A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3 hg19 CCDS47954.1 0.02 3.78094 TGCxGTG COVERED NOVEL ADAMTSL1-012 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000401206.1 0 4.513649 KEEP 0 0 0 15 477 AA 0.99649 0.99649 0 + 10 60 333 0 0 22.946853 115 60 3990 153 ENST00000380548.4 0.08 0.999999 ADAMTSL1 92949 __UNKNOWN__ __UNKNOWN__ 9 18909703 18909703 __UNKNOWN__ 3'UTR SNP G G A rs10117672 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:18909703G>A ENST00000380548.4 + 0 6785 NM_001040272.5 NP_001035362.3 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 NA NA proteinaceous extracellular matrix (GO:0005578) metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) TTCCAGAGCTGGCCCAGGGAC 0.547 NA G||| 1406 0.280751 0.2821 0.2752 5008 , , NA 18405 0.1637 NA 0.4165 False NA ,,, NA NA NA 2504 0.2638 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF176313 CCDS6485.1, CCDS47954.1 9p21.3 2013-01-11 ENSG00000178031 ENSG00000178031 92949 Immunoglobulin superfamily / I-set domain containing 14632 protein-coding gene gene with protein product punctin 609198 chromosome 9 open reading frame 94 C9orf94 NA 9628581, 11805097 Standard NM_001040272 NA Approved ADAMTSR1, FLJ35283 uc003zne.4 Q8N6G6 OTTHUMG00000019604 ENST00000380548.4:c.*1157G>A chr9.hg19:g.18909703G>A NA A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3 hg19 CCDS47954.1 0.02 8.909303 GCTxGCC COVERED NOVEL ADAMTSL1-012 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000401206.1 1 8.126004 KEEP 0 0 0 27 942 GG 0.999988 0.999988 0 + 9 60 333 0 0 21.466156 201 60 7421 278 ENST00000380548.4 0.042857 1 FAM154A 158297 __UNKNOWN__ __UNKNOWN__ 9 19033058 19033058 __UNKNOWN__ 5'UTR SNP C C A rs10963922 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:19033058C>A ENST00000380530.1 - 0 193 FAM154A_ENST00000542071.1_5'UTR|FAM154A_ENST00000380534.4_5'UTR|FAM154A_ENST00000583128.1_5'UTR Q8IYX7 F154A_HUMAN family with sequence similarity 154, member A NA NA breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1) 26 GBM - Glioblastoma multiforme(50;6.53e-16) GGCCCTTTTGCAATGTCCTGT 0.622 NA C||| 1836 0.366613 0.1619 0.4524 5008 , , NA 17642 0.4931 NA 0.4175 False NA ,,, NA NA NA 2504 0.3998 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant BC033489 CCDS6487.1, CCDS75819.1, CCDS75820.1 9p22.1 2012-03-23 2008-02-21 2008-02-21 ENSG00000155875 ENSG00000155875 158297 28566 protein-coding gene gene with protein product chromosome 9 open reading frame 138 C9orf138 NA 12477932 Standard NM_153707 NM_153707 NA Approved MGC35182 uc003zni.2 Q8IYX7 OTTHUMG00000019609 ENST00000380530.1:c.-152G>T chr9.hg19:g.19033058C>A NA Q5VY58 hg19 0.02 18.419033 TTGxAAT COVERED NOVEL FAM154A-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000051812.2 1 42.437578 KEEP 0 0 0 141 5005 CC 1 1 0 - 15 60 535 0 0 31.460402 483 60 18086 810 ENST00000380530.1 0.03012 1 HAUS6 54801 __UNKNOWN__ __UNKNOWN__ 9 19055523 19055523 __UNKNOWN__ 3'UTR SNP A A G rs3800829 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:19055523A>G ENST00000380502.3 - 0 4153 NM_001270890.1|NM_017645.4 NP_001257819.1|NP_060115.3 Q7Z4H7 HAUS6_HUMAN HAUS augmin-like complex, subunit 6 NA NA centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225) centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874) autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 AAACCCAACAACAAAACAGAC 0.313 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL832495 CCDS6489.1 9p22.1 2011-10-24 2009-04-20 2009-04-20 ENSG00000147874 ENSG00000147874 54801 HAUS augmin-like complex subunits 25948 protein-coding gene gene with protein product 613433 family with sequence similarity 29, member A FAM29A NA 10997877, 19427217 Standard NM_017645 NM_001270890 NA Approved FLJ20060, KIAA1574, dgt6 uc003znk.4 Q7Z4H7 OTTHUMG00000019622 ENST00000380502.3:c.*818T>C chr9.hg19:g.19055523A>G NA B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8 hg19 CCDS6489.1 0.02 15.642174 ACAxCAA COVERED NOVEL HAUS6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000051825.1 4 8.833602 KEEP 10 6 214 104 3198 AA 1 1 0 - 15 49 556 0 0 35.474613 357 60 12504 583 ENST00000380502.3 0.040323 1 HAUS6 54801 __UNKNOWN__ __UNKNOWN__ 9 19058743 19058743 __UNKNOWN__ Missense_Mutation SNP G G C rs10511670 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:19058743G>C ENST00000380502.3 - 16 2489 c.2022C>G c.(2020-2022)caC>caG p.H674Q HAUS6_ENST00000380496.1_Missense_Mutation_p.H538Q NM_001270890.1|NM_017645.4 NP_001257819.1|NP_060115.3 Q7Z4H7 HAUS6_HUMAN HAUS augmin-like complex, subunit 6 674 NA H -> Q (in dbSNP:rs10511670). {ECO:0000269|PubMed:14702039}. centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225) centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874) autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GTTCATCTATGTGACTGGTCA 0.378 NA G||| 387 0.0772764 0.0666 0.0476 5008 , , NA 20189 0.13 NA 0.0855 False NA ,,, NA NA NA 2504 0.0501 NA NA NA NA 0 G GLN/HIS 290,4116 160.3+/-192.7 12,266,1925 120 119 119 2022 -4.4 0 9 dbSNP_119 119 777,7823 184.5+/-232.4 46,685,3569 yes missense HAUS6 NM_017645.3 24 58,951,5494 CC,CG,GG 9.0349,6.5819,8.2039 benign 674/956 19058743 1067,11939 2203 4300 6503 SO:0001583 missense AL832495 CCDS6489.1 9p22.1 2011-10-24 2009-04-20 2009-04-20 ENSG00000147874 ENSG00000147874 54801 HAUS augmin-like complex subunits 25948 protein-coding gene gene with protein product 613433 family with sequence similarity 29, member A FAM29A NA 10997877, 19427217 Standard NM_017645 NM_001270890 NA Approved FLJ20060, KIAA1574, dgt6 uc003znk.4 Q7Z4H7 OTTHUMG00000019622 ENST00000380502.3:c.2022C>G chr9.hg19:g.19058743G>C ENSP00000369871:p.His674Gln NA B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8 hg19 CCDS6489.1 0.02 16.90546 TATxTGA COVERED 181 0.08287545787545787 23 0.046747967479674794 17 0.04696132596685083 71 0.12412587412587413 70 0.09234828496042216 G 1.349 -0.591964 0.03799 0.065819 0.090349 ENSG00000147874 ENST00000380502;ENST00000380496 T;T 0.23552 1.91;1.9 5.06 -4.36 0.03645 . 1.075000 0.07015 N 0.825785 T 0.00210 0.0006 L 0.42245 1.32 0.09310 N 1 B;B;B 0.13594 0.008;0.003;0.008 B;B;B 0.13407 0.009;0.009;0.009 T 0.33059 -0.9883 10 0.13470 T 0.59 13.9473 3.0345 0.06117 0.4343:0.3174:0.146:0.1023 rs10511670;rs10511670 639;538;674 Q7Z4H7-3;Q5VY60;Q7Z4H7 .;.;HAUS6_HUMAN Q 674;538 ENSP00000369871:H674Q;ENSP00000369865:H538Q ENSP00000369865:H538Q H - 3 2 HAUS6 19048743 0.000000 0.05858 0.000000 0.03702 0.202000 0.24057 -0.161000 0.10026 -0.856000 0.04120 0.467000 0.42956 CAC NOVEL HAUS6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000051825.1 3 23.175962 KEEP 20 0 0 77 2772 GG 1 1 0 - 12 60 470 0 0 29.639986 365 60 13941 603 ENST00000380502.3 0.03183 1 HAUS6 54801 __UNKNOWN__ __UNKNOWN__ 9 19058821 19058821 __UNKNOWN__ Silent SNP A A G rs10511671 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:19058821A>G ENST00000380502.3 - 16 2411 c.1944T>C c.(1942-1944)ttT>ttC p.F648F HAUS6_ENST00000380496.1_Silent_p.F512F NM_001270890.1|NM_017645.4 NP_001257819.1|NP_060115.3 Q7Z4H7 HAUS6_HUMAN HAUS augmin-like complex, subunit 6 648 NA centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225) centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874) autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GAGACTGGCCAAAATCTGATA 0.398 NA A||| 389 0.0776757 0.0673 0.0476 5008 , , NA 19442 0.13 NA 0.0865 False NA ,,, NA NA NA 2504 0.0501 NA NA NA NA 0 A 289,4117 159.2+/-191.8 11,267,1925 96 92 93 1944 2.6 0 9 dbSNP_119 93 777,7823 184.0+/-232.1 46,685,3569 no coding-synonymous HAUS6 NM_017645.3 57,952,5494 GG,GA,AA 9.0349,6.5592,8.1962 648/956 19058821 1066,11940 2203 4300 6503 SO:0001819 synonymous_variant AL832495 CCDS6489.1 9p22.1 2011-10-24 2009-04-20 2009-04-20 ENSG00000147874 ENSG00000147874 54801 HAUS augmin-like complex subunits 25948 protein-coding gene gene with protein product 613433 family with sequence similarity 29, member A FAM29A NA 10997877, 19427217 Standard NM_017645 NM_001270890 NA Approved FLJ20060, KIAA1574, dgt6 uc003znk.4 Q7Z4H7 OTTHUMG00000019622 ENST00000380502.3:c.1944T>C chr9.hg19:g.19058821A>G NA B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8 hg19 CCDS6489.1 0.02 8.373173 GCCxAAA COVERED NOVEL HAUS6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000051825.1 1 12.334659 KEEP 0 0 0 41 1218 AA 1 1 0 - 8 60 298 0 0 18.435811 229 60 8175 307 ENST00000380502.3 0.033755 1 HAUS6 54801 __UNKNOWN__ __UNKNOWN__ 9 19063108 19063108 __UNKNOWN__ Silent SNP T T C rs13302748 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:19063108T>C ENST00000380502.3 - 14 1994 c.1527A>G c.(1525-1527)ttA>ttG p.L509L HAUS6_ENST00000380496.1_Silent_p.L373L NM_001270890.1|NM_017645.4 NP_001257819.1|NP_060115.3 Q7Z4H7 HAUS6_HUMAN HAUS augmin-like complex, subunit 6 509 NA centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225) centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874) autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 CAACATCTGATAATGGAGAAT 0.358 NA T||| 1763 0.352037 0.1702 0.4035 5008 , , NA 19022 0.38 NA 0.4493 False NA ,,, NA NA NA 2504 0.4325 NA NA NA NA 0 T 888,3518 341.2+/-306.6 104,680,1419 105 96 99 1527 2 0 9 dbSNP_121 99 3911,4685 544.6+/-384.6 883,2145,1270 no coding-synonymous HAUS6 NM_017645.3 987,2825,2689 CC,CT,TT 45.4979,20.1543,36.9097 509/956 19063108 4799,8203 2203 4298 6501 SO:0001819 synonymous_variant AL832495 CCDS6489.1 9p22.1 2011-10-24 2009-04-20 2009-04-20 ENSG00000147874 ENSG00000147874 54801 HAUS augmin-like complex subunits 25948 protein-coding gene gene with protein product 613433 family with sequence similarity 29, member A FAM29A NA 10997877, 19427217 Standard NM_017645 NM_001270890 NA Approved FLJ20060, KIAA1574, dgt6 uc003znk.4 Q7Z4H7 OTTHUMG00000019622 ENST00000380502.3:c.1527A>G chr9.hg19:g.19063108T>C NA B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8 hg19 CCDS6489.1 0.02 6.42841 TGAxAAT COVERED NOVEL HAUS6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000051825.1 2 5.716016 KEEP 0 0 0 19 559 TT 0.99986 0.99986 0 - 7 60 265 0 0 17.080076 168 60 6120 205 ENST00000380502.3 0.04 1 HAUS6 54801 __UNKNOWN__ __UNKNOWN__ 9 19063765 19063765 __UNKNOWN__ Intron SNP A A G rs13302453 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:19063765A>G ENST00000380502.3 - 13 1844 SCARNA8_ENST00000515924.1_RNA|HAUS6_ENST00000380496.1_Intron NM_001270890.1|NM_017645.4 NP_001257819.1|NP_060115.3 Q7Z4H7 HAUS6_HUMAN HAUS augmin-like complex, subunit 6 NA NA centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225) centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874) autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 TTTCAGCCCAATTTGTGTATC 0.398 NA A||| 390 0.0778754 0.0681 0.0476 5008 , , NA 16703 0.131 NA 0.0855 False NA ,,, NA NA NA 2504 0.0501 NA NA NA NA 0 A 124,1628 4,116,756 61 56 57 5.4 1 9 dbSNP_121 57 374,3608 17,340,1634 no intron HAUS6 NM_017645.3 21,456,2390 GG,GA,AA 9.3923,7.0776,8.685 19063765 498,5236 876 1991 2867 SO:0001627 intron_variant AL832495 CCDS6489.1 9p22.1 2011-10-24 2009-04-20 2009-04-20 ENSG00000147874 ENSG00000147874 54801 HAUS augmin-like complex subunits 25948 protein-coding gene gene with protein product 613433 family with sequence similarity 29, member A FAM29A NA 10997877, 19427217 Standard NM_017645 NM_001270890 NA Approved FLJ20060, KIAA1574, dgt6 uc003znk.4 Q7Z4H7 OTTHUMG00000019622 ENST00000380502.3:c.1377-187T>C chr9.hg19:g.19063765A>G NA B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8 hg19 CCDS6489.1 0.02 9.11597 CCAxTTT COVERED NOVEL HAUS6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000051825.1 0 11.433476 KEEP 0 0 0 38 1170 AA 1 1 0 - 8 60 299 0 0 18.612942 224 60 8272 341 ENST00000380502.3 0.034483 1 HAUS6 54801 __UNKNOWN__ __UNKNOWN__ 9 19102828 19102828 __UNKNOWN__ 5'UTR SNP T T C rs7865126 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:19102828T>C ENST00000380502.3 - 0 289 NM_001270890.1|NM_017645.4 NP_001257819.1|NP_060115.3 Q7Z4H7 HAUS6_HUMAN HAUS augmin-like complex, subunit 6 NA NA centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225) centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874) autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 CTCCGGGAAATTGAGTTTCTA 0.612 NA C||| 505 0.100839 0.1006 0.0476 5008 , , NA 17355 0.1339 NA 0.1412 False NA ,,, NA NA NA 2504 0.0634 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AL832495 CCDS6489.1 9p22.1 2011-10-24 2009-04-20 2009-04-20 ENSG00000147874 ENSG00000147874 54801 HAUS augmin-like complex subunits 25948 protein-coding gene gene with protein product 613433 family with sequence similarity 29, member A FAM29A NA 10997877, 19427217 Standard NM_017645 NM_001270890 NA Approved FLJ20060, KIAA1574, dgt6 uc003znk.4 Q7Z4H7 OTTHUMG00000019622 ENST00000380502.3:c.-179A>G chr9.hg19:g.19102828T>C NA B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8 hg19 CCDS6489.1 0.02 14.911169 AAAxTGA COVERED NOVEL HAUS6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000051825.1 0 32.794011 KEEP 0 0 0 109 3345 TT 1 1 0 - 14 60 513 0 0 32.411267 339 60 12164 549 ENST00000380502.3 0.03966 1 ACER2 340485 __UNKNOWN__ __UNKNOWN__ 9 19434980 19434980 __UNKNOWN__ Missense_Mutation SNP C C T rs10964136 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:19434980C>T ENST00000340967.2 + 4 427 c.401C>T c.(400-402)gCg>gTg p.A134V ACER2_ENST00000380376.1_Missense_Mutation_p.A85V NM_001010887.2 NP_001010887.2 Q5QJU3 ACER2_HUMAN alkaline ceramidase 2 134 NA A -> V (in dbSNP:rs10964136). activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to drug (GO:0035690)|ceramide metabolic process (GO:0006672)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of protein glycosylation in Golgi (GO:0090285)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512) Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173) ceramidase activity (GO:0017040)|dihydroceramidase activity (GO:0071633) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1) 13 GTCCTGTCTGCGGTTACGACG 0.468 NA C||| 159 0.0317492 0.0015 0.0144 5008 , , NA 20572 0.126 NA 0.0129 False NA ,,, NA NA NA 2504 0.0072 NA NA NA NA 0 C VAL/ALA 17,4389 24.3+/-50.5 0,17,2186 367 299 322 401 3.1 0.7 9 dbSNP_120 322 129,8471 66.7+/-129.0 1,127,4172 yes missense ACER2 NM_001010887.2 64 1,144,6358 TT,TC,CC 1.5,0.3858,1.1226 benign 134/276 19434980 146,12860 2203 4300 6503 SO:0001583 missense AK123581 CCDS34992.1 9p21.3 2013-01-25 2008-12-19 2008-12-19 ENSG00000177076 ENSG00000177076 340485 3.5.1.23 Alkaline ceramidase 23675 protein-coding gene gene with protein product 613492 N-acylsphingosine amidohydrolase 3-like ASAH3L NA 18945876 Standard XM_294540 XM_005251447 NA Approved FLJ41587 uc003zny.1 Q5QJU3 OTTHUMG00000019644 ENST00000340967.2:c.401C>T chr9.hg19:g.19434980C>T ENSP00000342609:p.Ala134Val NA A2A3R8|Q569G5|Q5VZR7|Q71RD2 hg19 CCDS34992.1 0.02 3.990838 CTGxGGT COVERED 114 0.0521978021978022 1 0.0020325203252032522 9 0.024861878453038673 92 0.16083916083916083 12 0.0158311345646438 C 3.755 -0.050868 0.07407 0.003858 0.015 ENSG00000177076 ENST00000380376;ENST00000340967 T;T 0.39787 1.06;1.06 5.95 3.07 0.35406 . 0.101452 0.64402 N 0.000002 T 0.00039 0.0001 N 0.01515 -0.825 0.38165 D 0.939159 B 0.12630 0.006 B 0.06405 0.002 T 0.26916 -1.0089 9 . . . . 7.0153 0.24885 0.0:0.5123:0.3108:0.177 rs10964136;rs10964136 134 Q5QJU3 ACER2_HUMAN V 85;134 ENSP00000369735:A85V;ENSP00000342609:A134V . A + 2 0 ACER2 19424980 1.000000 0.71417 0.730000 0.30809 0.535000 0.34838 3.618000 0.54188 0.868000 0.35678 0.650000 0.86243 GCG NOVEL ACER2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000051864.1 1 3.009311 KEEP 0 0 0 10 338 CC 0.992708 0.992676 0 + 5 60 176 0 0 11.346293 96 60 3497 115 ENST00000340967.2 0.049505 0.999968 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 20332861 20332861 __UNKNOWN__ IGR SNP A A T rs150728181 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:20332861A>T NA NA AL512635.1 (37775 upstream) : MLLT3 (8801 downstream) NA NA NA ccaaaaataaaaataaaaaaa 0.348 NA A||| 134 0.0267572 0.0 0.0821 5008 , , NA 17431 0.0724 NA 0.003 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.20332861A>T NA hg19 0.02 2.404944 TAAxAAT COVERED NOVEL 0 0 2.708102 KEEP 0 0 0 9 287 AA 0.99254 0.969578 0 4 60 145 0 0 10.190394 51 60 1847 80 0.072727 0.976865 MLLT3 4300 __UNKNOWN__ __UNKNOWN__ 9 20354796 20354796 __UNKNOWN__ Intron SNP A A G rs2301550 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:20354796A>G ENST00000380338.4 - 9 1790 MLLT3_ENST00000380321.1_Intron|MLLT3_ENST00000429426.2_Intron|MLLT3_ENST00000355930.6_Intron NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 NA NA anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351) extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) GTAACAGACTAGAAACCTACC 0.403 NA T MLL ALL G||| 1698 0.339058 0.8548 0.219 5008 , , NA 20245 0.2381 NA 0.0318 False NA ,,, NA NA NA 2504 0.1472 NA NA NA Dom yes 9 9p22 4300 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9) L 0 G 3050,1352 448.7+/-348.8 1070,910,221 322 290 301 0.7 0 9 dbSNP_100 301 307,8293 805.1+/-407.3 7,293,4000 no intron MLLT3 NM_004529.2 1077,1203,4221 GG,GA,AA 3.5698,30.7133,25.8191 20354796 3357,9645 2201 4300 6501 SO:0001627 intron_variant L13744 CCDS6494.1 9p22 2008-02-05 2001-11-28 ENSG00000171843 ENSG00000171843 4300 7136 protein-coding gene gene with protein product 159558 myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3 NA 8506309, 8414510 Standard NM_004529 NM_001286691 NA Approved AF-9, AF9, YEATS3 uc003zoe.2 P42568 OTTHUMG00000019650 ENST00000380338.4:c.1503+9T>C chr9.hg19:g.20354796A>G NA B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0 hg19 CCDS6494.1 0.02 11.460775 ACTxGAA COVERED NOVEL MLLT3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000051872.1 3 27.984664 KEEP 0 0 0 93 2922 AA 1 1 0 - 12 60 445 0 0 28.893466 259 60 9584 454 ENST00000380338.4 0.04428 1 FOCAD 54914 __UNKNOWN__ __UNKNOWN__ 9 20953049 20953049 __UNKNOWN__ Missense_Mutation SNP A A G rs3206852 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:20953049A>G ENST00000380249.1 + 37 4481 c.4117A>G c.(4117-4119)Aca>Gca p.T1373A FOCAD_ENST00000605086.1_Missense_Mutation_p.T809A|FOCAD_ENST00000338382.6_Missense_Mutation_p.T1373A NM_017794.3 NP_060264.3 Q5VW36 FOCAD_HUMAN focadhesin 1373 NA T -> A (in dbSNP:rs3206852). {ECO:0000269|PubMed:14702039}.|T -> P (in dbSNP:rs3206852).|T -> S (in dbSNP:rs3206852). focal adhesion (GO:0005925)|integral component of membrane (GO:0016021) p.T1373A(1) NA CTTCTTCATTACAGGAGGAAA 0.373 NA A||| 1681 0.335663 0.2405 0.2695 5008 , , NA 19170 0.4355 NA 0.4006 False NA ,,, NA NA NA 2504 0.3415 NA NA NA NA 1 Substitution - Missense(1) stomach(1) A ALA/THR 1256,3150 428.9+/-342.0 163,930,1110 111 108 109 4117 3.7 1 9 dbSNP_105 109 3578,5022 516.7+/-378.9 753,2072,1475 yes missense KIAA1797 NM_017794.3 58 916,3002,2585 GG,GA,AA 41.6047,28.5066,37.1675 benign 1373/1802 20953049 4834,8172 2203 4300 6503 SO:0001583 missense AB058700 CCDS34993.1 9p21 2012-03-23 2012-03-23 2012-03-23 ENSG00000188352 ENSG00000188352 54914 23377 protein-coding gene gene with protein product 614606 KIAA1797 KIAA1797 NA 22427331 Standard NM_017794 XM_006716794 NA Approved FLJ20375 uc003zog.1 Q5VW36 OTTHUMG00000066930 ENST00000380249.1:c.4117A>G chr9.hg19:g.20953049A>G ENSP00000369599:p.Thr1373Ala NA D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87 hg19 CCDS34993.1 0.02 13.568879 ATTxCAG COVERED 772 0.3534798534798535 136 0.2764227642276423 101 0.27900552486187846 227 0.3968531468531469 308 0.40633245382585753 A 10.14 1.267734 0.23136 0.285066 0.416047 ENSG00000188352 ENST00000380249;ENST00000338382 T;T 0.21932 1.98;1.98 6.07 3.73 0.42828 . 0.342483 0.31145 N 0.008168 T 0.00012 0.0000 L 0.44542 1.39 0.43740 P 0.0037679999999999936 B 0.02656 0.0 B 0.04013 0.001 T 0.47497 -0.9113 9 0.28530 T 0.3 -2.0043 2.4306 0.04470 0.5373:0.0:0.2603:0.2024 rs3206852;rs3739935;rs17759648;rs58774393;rs3206852 1373 Q5VW36 K1797_HUMAN A 1373 ENSP00000369599:T1373A;ENSP00000344307:T1373A ENSP00000344307:T1373A T + 1 0 KIAA1797 20943049 1.000000 0.71417 0.998000 0.56505 0.996000 0.88848 1.718000 0.38001 1.107000 0.41642 0.533000 0.62120 ACA NOVEL FOCAD-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000143442.1 2 13.84065 KEEP 0 0 0 46 1395 AA 1 1 0 + 12 60 437 0 0 27.535621 291 60 10138 419 ENST00000380249.1 0.039604 1 FOCAD 54914 __UNKNOWN__ __UNKNOWN__ 9 20978306 20978306 __UNKNOWN__ Intron SNP A A G rs10811445 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:20978306A>G ENST00000380249.1 + 39 4625 FOCAD_ENST00000605086.1_Intron|FOCAD_ENST00000338382.6_Intron NM_017794.3 NP_060264.3 Q5VW36 FOCAD_HUMAN focadhesin NA NA focal adhesion (GO:0005925)|integral component of membrane (GO:0016021) NA AAGTAACTATATATTCAATTC 0.393 NA A||| 1629 0.32528 0.2269 0.2565 5008 , , NA 22347 0.4325 NA 0.3787 False NA ,,, NA NA NA 2504 0.3415 NA NA NA NA 0 A 1183,3223 397.9+/-330.6 137,909,1157 33 32 32 -3.1 0 9 dbSNP_120 32 3458,5142 478.6+/-369.9 702,2054,1544 no intron KIAA1797 NM_017794.3 839,2963,2701 GG,GA,AA 40.2093,26.8498,35.6835 20978306 4641,8365 2203 4300 6503 SO:0001627 intron_variant AB058700 CCDS34993.1 9p21 2012-03-23 2012-03-23 2012-03-23 ENSG00000188352 ENSG00000188352 54914 23377 protein-coding gene gene with protein product 614606 KIAA1797 KIAA1797 NA 22427331 Standard NM_017794 XM_006716794 NA Approved FLJ20375 uc003zog.1 Q5VW36 OTTHUMG00000066930 ENST00000380249.1:c.4262-32A>G chr9.hg19:g.20978306A>G NA D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87 hg19 CCDS34993.1 0.02 4.981538 TATxTAT COVERED NOVEL FOCAD-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000143442.1 1 7.216731 KEEP 0 0 0 24 737 AA 0.999909 0.999909 0 + 10 60 393 0 0 28.559931 126 60 4426 179 ENST00000380249.1 0.073529 1 FOCAD 54914 __UNKNOWN__ __UNKNOWN__ 9 20982328 20982328 __UNKNOWN__ Intron SNP T T G rs10964782 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:20982328T>G ENST00000380249.1 + 41 5002 FOCAD_ENST00000605086.1_Intron|FOCAD_ENST00000338382.6_Intron NM_017794.3 NP_060264.3 Q5VW36 FOCAD_HUMAN focadhesin NA NA focal adhesion (GO:0005925)|integral component of membrane (GO:0016021) NA CACTGTTTGTTGACATGTTTG 0.343 NA T||| 1649 0.329273 0.2277 0.2565 5008 , , NA 17901 0.4514 NA 0.3787 False NA ,,, NA NA NA 2504 0.3415 NA NA NA NA 0 T 1189,3217 395.4+/-329.6 143,903,1157 68 73 72 4.5 1 9 dbSNP_120 72 3450,5150 486.5+/-371.9 704,2042,1554 no intron KIAA1797 NM_017794.3 847,2945,2711 GG,GT,TT 40.1163,26.9859,35.6682 20982328 4639,8367 2203 4300 6503 SO:0001627 intron_variant AB058700 CCDS34993.1 9p21 2012-03-23 2012-03-23 2012-03-23 ENSG00000188352 ENSG00000188352 54914 23377 protein-coding gene gene with protein product 614606 KIAA1797 KIAA1797 NA 22427331 Standard NM_017794 XM_006716794 NA Approved FLJ20375 uc003zog.1 Q5VW36 OTTHUMG00000066930 ENST00000380249.1:c.4639-28T>G chr9.hg19:g.20982328T>G NA D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87 hg19 CCDS34993.1 0.02 9.672904 TGTxGAC COVERED NOVEL FOCAD-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000143442.1 3 15.343185 KEEP 0 0 0 51 1538 TT 1 1 0 + 12 60 460 0 0 31.657495 202 60 7218 302 ENST00000380249.1 0.056075 1 PTPLAD2 401494 __UNKNOWN__ __UNKNOWN__ 9 21005422 21005422 __UNKNOWN__ 3'UTR SNP G G A rs59467007 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:21005422G>A ENST00000495827.2 - 0 2358 PTPLAD2_ENST00000513293.2_Intron NM_001010915.3 NP_001010915.2 Q5VWC8 HACD4_HUMAN protein tyrosine phosphatase-like A domain containing 2 NA NA fatty acid biosynthetic process (GO:0006633) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) lyase activity (GO:0016829) breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1) 10 Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10) atttatgtgggtgtgaaccac 0.418 NA G||| 1031 0.205871 0.2927 0.0937 5008 , , NA 20596 0.2341 NA 0.164 False NA ,,, NA NA NA 2504 0.182 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS43791.1 9p21.3 2008-02-05 ENSG00000188921 ENSG00000188921 401494 20920 protein-coding gene gene with protein product 615941 NA Standard NM_001010915 NM_001010915 NA Approved Em:AL662879.1, OTTHUMG00000021016 uc010mir.1 Q5VWC8 OTTHUMG00000021016 ENST00000495827.2:c.*1614C>T chr9.hg19:g.21005422G>A NA Q7Z385 hg19 CCDS43791.1 0.02 11.312764 TGGxTGT COVERED NOVEL PTPLAD2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055434.3 1 12.94161 KEEP 0 0 0 43 1492 GG 1 1 0 - 11 60 412 0 0 26.789968 243 60 8965 359 ENST00000495827.2 0.043307 1 PTPLAD2 401494 __UNKNOWN__ __UNKNOWN__ 9 21005950 21005950 __UNKNOWN__ 3'UTR SNP A A G rs12686571 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:21005950A>G ENST00000495827.2 - 0 1830 PTPLAD2_ENST00000513293.2_Intron NM_001010915.3 NP_001010915.2 Q5VWC8 HACD4_HUMAN protein tyrosine phosphatase-like A domain containing 2 NA NA fatty acid biosynthetic process (GO:0006633) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) lyase activity (GO:0016829) breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1) 10 Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10) tcatttcacaagttcaaagct 0.413 NA A||| 93 0.0185703 0.0 0.0 5008 , , NA 21682 0.0863 NA 0.0 False NA ,,, NA NA NA 2504 0.0061 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS43791.1 9p21.3 2008-02-05 ENSG00000188921 ENSG00000188921 401494 20920 protein-coding gene gene with protein product 615941 NA Standard NM_001010915 NM_001010915 NA Approved Em:AL662879.1, OTTHUMG00000021016 uc010mir.1 Q5VWC8 OTTHUMG00000021016 ENST00000495827.2:c.*1086T>C chr9.hg19:g.21005950A>G NA Q7Z385 hg19 CCDS43791.1 0.02 1.863207 ACAxGTT COVERED NOVEL PTPLAD2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055434.3 1 3.009382 KEEP 0 0 0 10 322 AA 0.992708 0.992616 0 - 5 60 174 0 0 11.309895 89 60 3292 119 ENST00000495827.2 0.053191 0.999907 IFNA21 3452 __UNKNOWN__ __UNKNOWN__ 9 21166004 21166004 __UNKNOWN__ 3'UTR SNP A A G rs2939 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:21166004A>G ENST00000380225.1 - 0 655 NM_002175.2 NP_002166.2 P01568 IFN21_HUMAN interferon, alpha 21 NA NA adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337) extracellular region (GO:0005576)|extracellular space (GO:0005615) cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132) NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3) 14 GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) GGACTGGTGTATTAGTCAATA 0.348 NA A||| 1018 0.203275 0.1528 0.2291 5008 , , NA 15136 0.4177 NA 0.1531 False NA ,,, NA NA NA 2504 0.0838 NA NA NA NA 0 A 640,3766 37,566,1600 84 80 82 -4.9 0 9 dbSNP_36 82 1416,7184 111,1194,2995 no utr-3 IFNA21 NM_002175.2 148,1760,4595 GG,GA,AA 16.4651,14.5256,15.8081 21166004 2056,10950 2203 4300 6503 SO:0001624 3_prime_UTR_variant CCDS6497.1 9p22 2010-12-10 ENSG00000137080 ENSG00000137080 3452 Interferons 5424 protein-coding gene gene with protein product leukocyte interferon protein 147584 NA 1385305 Standard NM_002175 NM_002175 NA Approved IFN-alphaI uc003zom.2 P01568 OTTHUMG00000019653 ENST00000380225.1:c.*38T>C chr9.hg19:g.21166004A>G NA Q14608|Q5VWD1|Q7M4Q4 hg19 CCDS6497.1 0.02 36.020252 TGTxTTA COVERED NOVEL IFNA21-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000051882.1 4 18.955931 KEEP 0 0 0 63 1945 AA 1 1 0 - 45 60 1694 0 0 116.628607 718 60 26023 1017 ENST00000380225.1 0.058978 1 IFNA4 3441 __UNKNOWN__ __UNKNOWN__ 9 21186931 21186931 __UNKNOWN__ 3'UTR SNP A A G rs3750479 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:21186931A>G ENST00000421715.1 - 0 667 NM_021068.2 NP_066546.1 P05014 IFNA4_HUMAN interferon, alpha 4 NA NA adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337) extracellular region (GO:0005576)|extracellular space (GO:0005615) cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132) breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 17 GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) GTATTAGTCAATCAGGATCAT 0.358 NA A||| 1264 0.252396 0.3321 0.245 5008 , , NA 15501 0.4087 NA 0.159 False NA ,,, NA NA NA 2504 0.0849 NA NA NA NSCLC(154;890 1986 23660 27800 51138) NA 0 A 1259,3147 169,921,1113 125 127 126 0.3 0 9 dbSNP_107 126 1419,7181 112,1195,2993 no utr-3 IFNA4 NM_021068.2 281,2116,4106 GG,GA,AA 16.5,28.5747,20.5905 21186931 2678,10328 2203 4300 6503 SO:0001624 3_prime_UTR_variant CCDS6498.1 9p22 2010-08-24 ENSG00000236637 ENSG00000236637 3441 Interferons 5425 protein-coding gene gene with protein product 147564 NA 1385305 Standard NM_021068 NM_021068 NA Approved MGC142200, IFN-alpha4a uc003zon.2 P05014 OTTHUMG00000019660 ENST00000421715.1:c.*30T>C chr9.hg19:g.21186931A>G NA P13358|Q14CS4|Q5VV15 hg19 CCDS6498.1 0.02 17.26473 TCAxTCA COVERED NOVEL IFNA4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000051889.1 1 12.336805 KEEP 1 0 0 41 1294 AA 1 1 0 - 24 60 930 0 0 65.222837 369 60 13600 540 ENST00000421715.1 0.061069 1 IFNA4 3441 __UNKNOWN__ __UNKNOWN__ 9 21187121 21187121 __UNKNOWN__ Missense_Mutation SNP T T A rs3750480 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:21187121T>A ENST00000421715.1 - 1 477 c.410A>T c.(409-411)gAg>gTg p.E137V NM_021068.2 NP_066546.1 P05014 IFNA4_HUMAN interferon, alpha 4 137 NA E -> V (in alpha-4B; dbSNP:rs3750480). {ECO:0000269|PubMed:4057246}. adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337) extracellular region (GO:0005576)|extracellular space (GO:0005615) cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132) breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 17 GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) GATGGAGTCCTCATTCATCAG 0.458 NA T||| 1140 0.227636 0.2466 0.2392 5008 , , NA 19196 0.4087 NA 0.1521 False NA ,,, NA NA NA 2504 0.0849 NA NA NA NSCLC(154;890 1986 23660 27800 51138) NA 0 T VAL/GLU 893,3485 74,745,1370 48 51 50 410 1.8 0 9 dbSNP_132 50 1332,7204 91,1150,3027 no missense IFNA4 NM_021068.2 121 165,1895,4397 AA,AT,TT 15.6045,20.3974,17.2294 benign 137/190 21187121 2225,10689 2189 4268 6457 SO:0001583 missense CCDS6498.1 9p22 2010-08-24 ENSG00000236637 ENSG00000236637 3441 Interferons 5425 protein-coding gene gene with protein product 147564 NA 1385305 Standard NM_021068 NM_021068 NA Approved MGC142200, IFN-alpha4a uc003zon.2 P05014 OTTHUMG00000019660 ENST00000421715.1:c.410A>T chr9.hg19:g.21187121T>A ENSP00000412897:p.Glu137Val NA P13358|Q14CS4|Q5VV15 hg19 CCDS6498.1 0.02 6.226554 TCCxCAT COVERED 567 0.25961538461538464 118 0.23983739837398374 88 0.2430939226519337 249 0.4353146853146853 112 0.14775725593667546 - 6.461 0.453203 0.12283 0.203974 0.156045 ENSG00000236637 ENST00000421715 T 0.07688 3.17 2.96 1.78 0.24846 Four-helical cytokine-like, core (1);Four-helical cytokine, core (1); 0.276343 0.28042 N 0.016831 T 0.00012 0.0000 M 0.80332 2.49 0.80722 P 0.0 B 0.12630 0.006 B 0.25405 0.06 T 0.38243 -0.9670 9 0.39692 T 0.17 . 7.2351 0.26066 0.0:0.0:0.227:0.773 . 137 P05014 IFNA4_HUMAN V 137 ENSP00000412897:E137V ENSP00000412897:E137V E - 2 0 IFNA4 21177121 0.000000 0.05858 0.033000 0.17914 0.028000 0.11728 -0.307000 0.08167 0.338000 0.23692 -0.719000 0.03609 GAG NOVEL IFNA4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000051889.1 2 9.930106 KEEP 118 0 0 33 1055 TT 0.999366 0.999366 0 - 7 47 255 0 0 15.715647 190 50 7089 401 ENST00000421715.1 0.035533 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 21191169 21191169 __UNKNOWN__ IGR SNP T T G rs28619950 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:21191169T>G NA NA IFNA4 (3571 upstream) : IFNA7 (10298 downstream) NA NA NA TCTGAGGCAGTTCAAAGCCCA 0.537 NA G||| 1519 0.303315 0.3654 0.2666 5008 , , NA 16762 0.5188 NA 0.165 False NA ,,, NA NA NA 2504 0.1656 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.21191169T>G NA hg19 0.02 -0.324574 CAGxTCA COVERED NOVEL 0 0 2.40576 KEEP 0 0 0 8 233 TT 0.99257 0.829507 0 5 40 186 0 0 14.622781 32 50 1141 50 0.135135 0.835716 IFNA10 3446 __UNKNOWN__ __UNKNOWN__ 9 21206427 21206427 __UNKNOWN__ 3'UTR SNP G G A rs12555631 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:21206427G>A ENST00000357374.2 - 0 715 NM_002171.1 NP_002162.1 P01566 IFN10_HUMAN interferon, alpha 10 NA NA adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337) extracellular region (GO:0005576)|extracellular space (GO:0005615) cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132) endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 16 Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17) TTGATTCAACGCGTCGTGGTT 0.383 NA g||| 1113 0.222244 0.2179 0.2392 5008 , , NA 16326 0.4018 NA 0.1571 False NA ,,, NA NA NA 2504 0.0982 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS6499.1 9p22 2010-08-24 ENSG00000186803 ENSG00000186803 3446 Interferons 5418 protein-coding gene gene with protein product 147577 NA 1385305 Standard NM_002171 NM_002171 NA Approved IFN-alphaC uc003zoq.1 P01566 OTTHUMG00000019658 ENST00000357374.2:c.*100C>T chr9.hg19:g.21206427G>A NA Q5VV13 hg19 CCDS6499.1 0.02 21.168537 AACxCGT COVERED NOVEL IFNA10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000051887.1 0 14.07953 KEEP 0 1 26 56 1980 GG 1 1 0 - 28 60 1010 0 0 67.46421 474 60 16730 682 ENST00000357374.2 0.055777 1 IFNA10 3446 __UNKNOWN__ __UNKNOWN__ 9 21206763 21206763 __UNKNOWN__ Missense_Mutation SNP G G T rs56035072 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:21206763G>T ENST00000357374.2 - 1 379 c.334C>A c.(334-336)Ctt>Att p.L112I NM_002171.1 NP_002162.1 P01566 IFN10_HUMAN interferon, alpha 10 112 NA adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337) extracellular region (GO:0005576)|extracellular space (GO:0005615) cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132) endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 16 Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17) TGCTGGTAAAGTTCAGTGGAA 0.493 NA g||| 1108 0.221246 0.2141 0.2392 5008 , , NA 19287 0.4018 NA 0.1571 False NA ,,, NA NA NA 2504 0.0982 NA NA NA NA 0 G ILE/LEU 854,3546 78,698,1424 44 51 48 334 3.8 0 9 dbSNP_129 48 1394,7166 110,1174,2996 no missense IFNA10 NM_002171.1 5 188,1872,4420 TT,TG,GG 16.285,19.4091,17.3457 probably-damaging 112/190 21206763 2248,10712 2200 4280 6480 SO:0001583 missense CCDS6499.1 9p22 2010-08-24 ENSG00000186803 ENSG00000186803 3446 Interferons 5418 protein-coding gene gene with protein product 147577 NA 1385305 Standard NM_002171 NM_002171 NA Approved IFN-alphaC uc003zoq.1 P01566 OTTHUMG00000019658 ENST00000357374.2:c.334C>A chr9.hg19:g.21206763G>T ENSP00000369566:p.Leu112Ile NA Q5VV13 hg19 CCDS6499.1 0.02 6.369409 AAAxTTC COVERED 547 0.25045787545787546 100 0.2032520325203252 84 0.23204419889502761 252 0.4405594405594406 111 0.14643799472295516 - 15.33 2.800568 0.50315 0.194091 0.16285 ENSG00000186803 ENST00000357374 T 0.17213 2.29 3.75 3.75 0.43078 Four-helical cytokine-like, core (1);Four-helical cytokine, core (1); 0.155183 0.43416 D 0.000567 T 0.00012 0.0000 M 0.89030 3 0.80722 P 0.0 D 0.65815 0.995 D 0.79108 0.992 T 0.45731 -0.9241 9 0.72032 D 0.01 . 12.9165 0.58209 0.0:0.0:1.0:0.0 rs56035072 112 P01566 IFN10_HUMAN I 112 ENSP00000369566:L112I ENSP00000369566:L112I L - 1 0 IFNA10 21196763 0.001000 0.12720 0.009000 0.14445 0.011000 0.07611 0.180000 0.16860 1.806000 0.52798 0.499000 0.49734 CTT NOVEL IFNA10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000051887.1 2 8.126391 KEEP 112 0 0 27 954 GG 0.993634 0.993634 0 - 6 40 216 0 0 13.373932 153 40 5654 320 ENST00000357374.2 0.037736 1 IFNA17 3451 __UNKNOWN__ __UNKNOWN__ 9 21227622 21227622 __UNKNOWN__ Missense_Mutation SNP A A C rs9298814 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:21227622A>C ENST00000413767.2 - 1 599 c.551T>G c.(550-552)aTa>aGa p.I184R NM_021268.2 NP_067091.1 P01571 IFN17_HUMAN interferon, alpha 17 184 NA I -> R (in dbSNP:rs9298814). {ECO:0000269|PubMed:3767336, ECO:0000269|PubMed:4008999, ECO:0000269|PubMed:9712362}. adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337) extracellular region (GO:0005576)|extracellular space (GO:0005615) cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132) breast(1)|endometrium(2)|lung(4)|ovary(1)|skin(1) 9 Lung(24;2.13e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116) CCTCCTTAATATTTTTTGCAA 0.378 NA NA NA NA NA NA NA NA NA NA NA 0 GRCh37 CM041015 IFNA17 M rs9298814 C ARG/ILE 572,3822 192,188,1817 112 143 133 551 0.9 0 9 dbSNP_119 133 453,8139 116,221,3959 no missense IFNA17 NM_021268.2 97 308,409,5776 CC,CA,AA 5.2723,13.0178,7.8931 benign 184/190 21227622 1025,11961 2197 4296 6493 SO:0001583 missense CCDS6500.1 9p22 2010-12-10 ENSG00000234829 ENSG00000234829 3451 Interferons 5422 protein-coding gene gene with protein product 147583 NA 1385305 Standard NM_021268 NM_021268 NA Approved LEIF2C1, IFN-alphaI uc003zos.1 P01571 OTTHUMG00000019667 ENST00000413767.2:c.551T>G chr9.hg19:g.21227622A>C ENSP00000411940:p.Ile184Arg NA Q14639|Q4KMT4|Q5VZ53|Q7M4Q4 hg19 CCDS6500.1 0.02 8.411153 AATxTTT COVERED 545 0.24954212454212454 112 0.22764227642276422 81 0.22375690607734808 249 0.4353146853146853 103 0.1358839050131926 - 0.005 -2.223585 0.00283 0.130178 0.052723 ENSG00000234829 ENST00000413767 T 0.02446 4.29 2.87 0.946 0.19549 Four-helical cytokine-like, core (1);Four-helical cytokine, core (1); 0.807431 0.11337 N 0.574448 T 0.00012 0.0000 N 0.00026 -2.67 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.41179 -0.9523 9 0.02654 T 1 . 3.7911 0.08721 0.1944:0.5636:0.0:0.242 rs9298814;rs56983361;rs9298814 184 P01571 IFN17_HUMAN R 184 ENSP00000411940:I184R ENSP00000411940:I184R I - 2 0 IFNA17 21217622 0.000000 0.05858 0.002000 0.10522 0.007000 0.05969 -0.362000 0.07602 0.102000 0.17638 -0.488000 0.04728 ATA NOVEL IFNA17-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000051896.1 1 4.211464 KEEP 1 0 0 14 418 AA 0.995343 0.995343 0 - 7 40 265 0 0 16.053576 237 60 8622 280 ENST00000413767.2 0.028689 1 IFNA17 3451 __UNKNOWN__ __UNKNOWN__ 9 21227942 21227942 __UNKNOWN__ Silent SNP G G T rs10117962 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:21227942G>T ENST00000413767.2 - 1 279 c.231C>A c.(229-231)atC>atA p.I77I NM_021268.2 NP_067091.1 P01571 IFN17_HUMAN interferon, alpha 17 77 NA adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337) extracellular region (GO:0005576)|extracellular space (GO:0005615) cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132) breast(1)|endometrium(2)|lung(4)|ovary(1)|skin(1) 9 Lung(24;2.13e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116) GGAGGACAGAGATGGCTTGAG 0.493 NA g||| 1447 0.288938 0.3389 0.2594 5008 , , NA 20574 0.501 NA 0.1561 False NA ,,, NA NA NA 2504 0.1605 NA NA NA NA 0 G 1422,2984 461.3+/-352.9 232,958,1013 90 91 91 231 0.6 0.1 9 dbSNP_119 91 1399,7197 267.6+/-287.4 111,1177,3010 yes coding-synonymous IFNA17 NM_021268.2 343,2135,4023 TT,TG,GG 16.275,32.2742,21.6967 77/190 21227942 2821,10181 2203 4298 6501 SO:0001819 synonymous_variant CCDS6500.1 9p22 2010-12-10 ENSG00000234829 ENSG00000234829 3451 Interferons 5422 protein-coding gene gene with protein product 147583 NA 1385305 Standard NM_021268 NM_021268 NA Approved LEIF2C1, IFN-alphaI uc003zos.1 P01571 OTTHUMG00000019667 ENST00000413767.2:c.231C>A chr9.hg19:g.21227942G>T NA Q14639|Q4KMT4|Q5VZ53|Q7M4Q4 hg19 CCDS6500.1 0.02 6.605041 AGAxATG COVERED NOVEL IFNA17-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000051896.1 1 3.009876 KEEP 3 0 0 10 356 GG 0.992708 0.992708 0 - 8 60 285 0 0 17.941282 181 60 6822 244 ENST00000413767.2 0.042328 1 IFNA17 3451 __UNKNOWN__ __UNKNOWN__ 9 21228040 21228040 __UNKNOWN__ Missense_Mutation SNP C C G rs12552812 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:21228040C>G ENST00000413767.2 - 1 181 c.133G>C c.(133-135)Gga>Cga p.G45R NM_021268.2 NP_067091.1 P01571 IFN17_HUMAN interferon, alpha 17 45 NA adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337) extracellular region (GO:0005576)|extracellular space (GO:0005615) cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132) breast(1)|endometrium(2)|lung(4)|ovary(1)|skin(1) 9 Lung(24;2.13e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116) GAGATTCTTCCCATTTGTGCC 0.517 NA N||| 1461 0.291733 0.3396 0.2594 5008 , , NA 20154 0.5119 NA 0.1561 False NA ,,, NA NA NA 2504 0.1626 NA NA NA NA 0 G ARG/GLY 1424,2982 453.2+/-350.3 231,962,1010 85 88 87 133 -5.3 0 9 dbSNP_120 87 1394,7202 262.5+/-284.5 111,1172,3015 no missense IFNA17 NM_021268.2 125 342,2134,4025 GG,GC,CC 16.2168,32.3196,21.6736 benign 45/190 21228040 2818,10184 2203 4298 6501 SO:0001583 missense CCDS6500.1 9p22 2010-12-10 ENSG00000234829 ENSG00000234829 3451 Interferons 5422 protein-coding gene gene with protein product 147583 NA 1385305 Standard NM_021268 NM_021268 NA Approved LEIF2C1, IFN-alphaI uc003zos.1 P01571 OTTHUMG00000019667 ENST00000413767.2:c.133G>C chr9.hg19:g.21228040C>G ENSP00000411940:p.Gly45Arg NA Q14639|Q4KMT4|Q5VZ53|Q7M4Q4 hg19 CCDS6500.1 0.02 6.423056 TTCxCAT COVERED 658 0.30128205128205127 149 0.30284552845528456 97 0.26795580110497236 302 0.527972027972028 110 0.14511873350923482 c 0.005 -2.207549 0.00292 0.323196 0.162168 ENSG00000234829 ENST00000413767 T 0.02916 4.11 2.65 -5.29 0.02747 Four-helical cytokine-like, core (1);Four-helical cytokine, core (1); 0.544667 0.19008 N 0.125147 T 0.00012 0.0000 N 0.00151 -1.98 0.80722 P 0.0 B 0.02656 0.0 B 0.04013 0.001 T 0.07501 -1.0769 9 0.02654 T 1 . 6.15 0.20306 0.0:0.4697:0.2695:0.2608 rs12552812;rs13293990;rs61251945 45 P01571 IFN17_HUMAN R 45 ENSP00000411940:G45R ENSP00000411940:G45R G - 1 0 IFNA17 21218040 0.010000 0.17322 0.000000 0.03702 0.018000 0.09664 -0.229000 0.09098 -1.848000 0.01172 -4.058000 0.00012 GGA NOVEL IFNA17-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000051896.1 2 2.707762 KEEP 0 0 0 9 304 CC 0.99254 0.99254 0 - 12 60 405 0 0 26.889721 175 60 6367 224 ENST00000413767.2 0.064171 1 IFNA17 3451 __UNKNOWN__ __UNKNOWN__ 9 21228182 21228182 __UNKNOWN__ 5'UTR SNP G G T rs199693096|rs34457586|rs10757201 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:21228182G>T ENST00000413767.2 - 0 39 NM_021268.2 NP_067091.1 P01571 IFN17_HUMAN interferon, alpha 17 NA NA adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337) extracellular region (GO:0005576)|extracellular space (GO:0005615) cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132) breast(1)|endometrium(2)|lung(4)|ovary(1)|skin(1) 9 Lung(24;2.13e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116) TTGGGATGTTGCAAATGTTGC 0.468 NA g||| 1462 0.291933 0.3389 0.2594 5008 , , NA 19963 0.5119 NA 0.1561 False NA ,,, NA NA NA 2504 0.1646 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant CCDS6500.1 9p22 2010-12-10 ENSG00000234829 ENSG00000234829 3451 Interferons 5422 protein-coding gene gene with protein product 147583 NA 1385305 Standard NM_021268 NM_021268 NA Approved LEIF2C1, IFN-alphaI uc003zos.1 P01571 OTTHUMG00000019667 ENST00000413767.2:c.-10C>A chr9.hg19:g.21228182G>T NA Q14639|Q4KMT4|Q5VZ53|Q7M4Q4 hg19 CCDS6500.1 0.02 9.047106 GTTxCAA COVERED NOVEL IFNA17-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000051896.1 0 10.531882 KEEP 0 0 0 35 1260 GG 0.999999 0.999999 0 - 11 60 417 0 0 28.053225 206 60 7886 324 ENST00000413767.2 0.050691 1 IFNA17 3451 __UNKNOWN__ __UNKNOWN__ 9 21228183 21228183 __UNKNOWN__ 5'UTR SNP C C G rs199693096|rs34457586|rs10757202 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:21228183C>G ENST00000413767.2 - 0 38 NM_021268.2 NP_067091.1 P01571 IFN17_HUMAN interferon, alpha 17 NA NA adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337) extracellular region (GO:0005576)|extracellular space (GO:0005615) cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132) breast(1)|endometrium(2)|lung(4)|ovary(1)|skin(1) 9 Lung(24;2.13e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116) TGGGATGTTGCAAATGTTGCT 0.468 NA c||| 1462 0.291933 0.3389 0.2594 5008 , , NA 19991 0.5119 NA 0.1561 False NA ,,, NA NA NA 2504 0.1646 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant CCDS6500.1 9p22 2010-12-10 ENSG00000234829 ENSG00000234829 3451 Interferons 5422 protein-coding gene gene with protein product 147583 NA 1385305 Standard NM_021268 NM_021268 NA Approved LEIF2C1, IFN-alphaI uc003zos.1 P01571 OTTHUMG00000019667 ENST00000413767.2:c.-11G>C chr9.hg19:g.21228183C>G NA Q14639|Q4KMT4|Q5VZ53|Q7M4Q4 hg19 CCDS6500.1 0.02 9.663601 TTGxAAA COVERED NOVEL IFNA17-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000051896.1 0 10.534575 KEEP 0 0 0 35 1265 CC 0.999999 0.999999 0 - 11 60 423 0 0 28.698168 204 60 7921 322 ENST00000413767.2 0.051163 1 IFNA5 3442 __UNKNOWN__ __UNKNOWN__ 9 21304803 21304803 __UNKNOWN__ Silent SNP G G A rs10757212 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:21304803G>A ENST00000259555.4 - 1 509 c.453C>T c.(451-453)acC>acT p.T151T NM_002169.2 NP_002160.1 P01569 IFNA5_HUMAN interferon, alpha 5 151 NA adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337) extracellular region (GO:0005576)|extracellular space (GO:0005615) cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132) endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1) 7 Lung(24;2.34e-24)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) TCAGATAGAGGGTGATTCTTT 0.438 NA A||| 1436 0.286741 0.3457 0.2824 5008 , , NA 19656 0.4653 NA 0.1918 False NA ,,, NA NA NA 2504 0.1237 NA NA NA NA 0 A 1563,2843 668.2+/-402.0 277,1009,917 231 230 230 453 -5.4 0 9 dbSNP_120 230 1791,6809 734.3+/-406.9 174,1443,2683 no coding-synonymous IFNA5 NM_002169.2 451,2452,3600 AA,AG,GG 20.8256,35.4744,25.7881 151/190 21304803 3354,9652 2203 4300 6503 SO:0001819 synonymous_variant CCDS6502.1 9p22 2010-08-24 ENSG00000147873 ENSG00000147873 3442 Interferons 5426 protein-coding gene gene with protein product 147565 NA 1385305 Standard NM_002169 NM_002169 NA Approved IFN-alphaG uc011lnh.2 P01569 OTTHUMG00000019664 ENST00000259555.4:c.453C>T chr9.hg19:g.21304803G>A NA Q52LX3 hg19 CCDS6502.1 0.02 13.97872 GAGxGTG COVERED NOVEL IFNA5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000051893.1 1 9.630024 KEEP 0 0 0 32 1116 GG 0.999997 0.999997 0 - 21 60 780 0 0 53.916626 315 60 11407 441 ENST00000259555.4 0.0625 1 KLHL9 55958 __UNKNOWN__ __UNKNOWN__ 9 21330522 21330522 __UNKNOWN__ 3'UTR SNP G G T rs7872479 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:21330522G>T ENST00000359039.4 - 0 4857 Q9P2J3 KLHL9_HUMAN kelch-like family member 9 NA NA cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567) Cul3-RING ubiquitin ligase complex (GO:0031463)|midbody (GO:0030496) endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2) 32 Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118) AGGCAGGGTGGGTGAAGCTGG 0.403 NA T||| 1363 0.272165 0.3275 0.2853 5008 , , NA 16314 0.4177 NA 0.1899 False NA ,,, NA NA NA 2504 0.1227 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB037775 CCDS6503.1 9p22 2013-01-30 2013-01-30 ENSG00000198642 ENSG00000198642 55958 Kelch-like, BTB/POZ domain containing 18732 protein-coding gene gene with protein product 611201 kelch-like 9 (Drosophila) NA Standard NM_018847 NM_018847 NA Approved KIAA1354, FLJ13568 uc003zoy.3 Q9P2J3 OTTHUMG00000019669 ENST00000359039.4:c.*2483C>A chr9.hg19:g.21330522G>T NA Q8TCQ2 hg19 CCDS6503.1 0.02 4.179545 GTGxGTG COVERED NOVEL KLHL9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000051898.2 0 12.339379 KEEP 0 0 0 41 1405 GG 1 0.999999 0 - 5 60 183 0 0 11.573311 120 60 4369 216 ENST00000359039.4 0.04 0.999999 KLHL9 55958 __UNKNOWN__ __UNKNOWN__ 9 21331119 21331119 __UNKNOWN__ 3'UTR SNP C C T rs8729 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:21331119C>T ENST00000359039.4 - 0 4260 Q9P2J3 KLHL9_HUMAN kelch-like family member 9 NA NA cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567) Cul3-RING ubiquitin ligase complex (GO:0031463)|midbody (GO:0030496) endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2) 32 Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118) acaggaacatctgatcaaaga 0.318 NA T||| 1364 0.272364 0.3275 0.2853 5008 , , NA 16972 0.4187 NA 0.1899 False NA ,,, NA NA NA 2504 0.1227 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB037775 CCDS6503.1 9p22 2013-01-30 2013-01-30 ENSG00000198642 ENSG00000198642 55958 Kelch-like, BTB/POZ domain containing 18732 protein-coding gene gene with protein product 611201 kelch-like 9 (Drosophila) NA Standard NM_018847 NM_018847 NA Approved KIAA1354, FLJ13568 uc003zoy.3 Q9P2J3 OTTHUMG00000019669 ENST00000359039.4:c.*1886G>A chr9.hg19:g.21331119C>T NA Q8TCQ2 hg19 CCDS6503.1 0.02 8.897811 CATxTGA COVERED NOVEL KLHL9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000051898.2 2 31.001653 KEEP 0 0 0 103 3713 CC 1 1 0 - 17 60 603 0 0 41.955796 217 60 8363 439 ENST00000359039.4 0.07265 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 21368097 21368097 __UNKNOWN__ IGR SNP T T A rs653778 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:21368097T>A NA NA IFNA13 (22 upstream) : IFNA2 (16156 downstream) NA NA NA TTCCTGCAGATGCCTTAAATA 0.438 NA T||| 827 0.165136 0.1392 0.1542 5008 , , NA 19625 0.3036 NA 0.1471 False NA ,,, NA NA NA 2504 0.0838 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.21368097T>A NA hg19 0.02 26.215575 AGAxGCC COVERED NOVEL 0 1 13.541506 KEEP 0 0 0 45 1441 TT 1 1 0 21 60 759 1 0 46.112614 599 60 22337 810 0.033871 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 21696288 21696288 __UNKNOWN__ IGR SNP C C T rs41517746 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:21696288C>T NA NA MIR31HG (136620 upstream) : RN7SL151P (3024 downstream) NA NA p.0(1) NA CTGTAGCCTTCGTAGAGATCT 0.577 NA C||| 1429 0.285343 0.5431 0.183 5008 , , NA 17262 0.3562 NA 0.0845 False NA ,,, NA NA NA 2504 0.1431 NA NA NA NA 1 Whole gene deletion(1) lung(1) NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.21696288C>T NA hg19 0.02 2.1353 CTTxGTA COVERED NOVEL 0 0 3.611 KEEP 0 0 0 12 387 CC 0.993634 0.985778 0 4 60 148 0 0 10.24094 59 60 2019 85 0.063492 0.992094 MTAP 4507 __UNKNOWN__ __UNKNOWN__ 9 21862271 21862271 __UNKNOWN__ 3'UTR SNP A A C rs15735 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:21862271A>C ENST00000460874.2 + 0 1386 MTAP_ENST00000380172.4_3'UTR|RP11-145E5.5_ENST00000404796.2_Intron|MTAP_ENST00000580900.1_Intron methylthioadenosine phosphorylase NA NA p.0(1)|p.0?(1) central_nervous_system(1)|endometrium(2)|kidney(3)|lung(3)|pancreas(1) 10 all_cancers(5;0)|Hepatocellular(5;0.00162)|Colorectal(97;0.173) GBM - Glioblastoma multiforme(3;0)|Lung(24;2.24e-57)|LUSC - Lung squamous cell carcinoma(38;1.97e-36)|STAD - Stomach adenocarcinoma(4;3.26e-05)|OV - Ovarian serous cystadenocarcinoma(39;0.00931)|COAD - Colon adenocarcinoma(8;0.15) ggaaaaaaaaacccaccattc 0.358 NA A||| 2353 0.469848 0.4849 0.598 5008 , , NA 15624 0.5774 NA 0.3062 False NA ,,, NA NA NA 2504 0.4162 NA NA NA NA 2 Whole gene deletion(2) lung(2) NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB062485 CCDS6509.1 9p21 2013-05-29 ENSG00000099810 ENSG00000099810 4507 2.4.2.28 7413 protein-coding gene gene with protein product S-methyl-5'-thioadenosine phosphorylase 156540 NA 11126361 Standard NM_002451 NM_002451 NA Approved MSAP, c86fus uc003zph.3 Q13126 OTTHUMG00000019690 ENST00000460874.2:c.*258A>C chr9.hg19:g.21862271A>C NA hg19 0.02 4.438248 AAAxCCC COVERED NOVEL MTAP-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000051929.2 2 4.176458 KEEP 0 0 0 14 380 AA 0.995343 0.995343 0 + 6 60 223 0 0 14.391296 135 60 4488 161 ENST00000460874.2 0.042553 1 MTAP 4507 __UNKNOWN__ __UNKNOWN__ 9 21862897 21862897 __UNKNOWN__ 3'UTR SNP T T A rs1134871 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:21862897T>A ENST00000380172.4 + 0 1942 RP11-145E5.5_ENST00000404796.2_Intron|MTAP_ENST00000580900.1_Intron NM_002451.3 NP_002442.2 methylthioadenosine phosphorylase NA NA p.0(1)|p.0?(1) central_nervous_system(1)|endometrium(2)|kidney(3)|lung(3)|pancreas(1) 10 all_cancers(5;0)|Hepatocellular(5;0.00162)|Colorectal(97;0.173) GBM - Glioblastoma multiforme(3;0)|Lung(24;2.24e-57)|LUSC - Lung squamous cell carcinoma(38;1.97e-36)|STAD - Stomach adenocarcinoma(4;3.26e-05)|OV - Ovarian serous cystadenocarcinoma(39;0.00931)|COAD - Colon adenocarcinoma(8;0.15) tacagtgaATTTAATCAAATA 0.284 NA A||| 2664 0.531949 0.7118 0.6153 5008 , , NA 15742 0.6071 NA 0.2734 False NA ,,, NA NA NA 2504 0.4182 NA NA NA NA 2 Whole gene deletion(2) lung(2) NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB062485 CCDS6509.1 9p21 2013-05-29 ENSG00000099810 ENSG00000099810 4507 2.4.2.28 7413 protein-coding gene gene with protein product S-methyl-5'-thioadenosine phosphorylase 156540 NA 11126361 Standard NM_002451 NM_002451 NA Approved MSAP, c86fus uc003zph.3 Q13126 OTTHUMG00000019690 ENST00000380172.4:c.*884T>A chr9.hg19:g.21862897T>A NA hg19 CCDS6509.1 0.02 3.895092 AATxTAA COVERED NOVEL MTAP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000051927.2 1 6.619679 KEEP 0 0 0 22 697 TT 0.999879 0.999879 0 + 7 60 256 0 0 16.764757 138 60 4987 193 ENST00000380172.4 0.048276 1 MTAP 4507 __UNKNOWN__ __UNKNOWN__ 9 21864378 21864378 __UNKNOWN__ 3'UTR SNP C C T rs10117550 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:21864378C>T ENST00000380172.4 + 0 3423 RP11-145E5.5_ENST00000404796.2_Intron|MTAP_ENST00000580900.1_Intron NM_002451.3 NP_002442.2 methylthioadenosine phosphorylase NA NA p.0(1)|p.0?(1) central_nervous_system(1)|endometrium(2)|kidney(3)|lung(3)|pancreas(1) 10 all_cancers(5;0)|Hepatocellular(5;0.00162)|Colorectal(97;0.173) GBM - Glioblastoma multiforme(3;0)|Lung(24;2.24e-57)|LUSC - Lung squamous cell carcinoma(38;1.97e-36)|STAD - Stomach adenocarcinoma(4;3.26e-05)|OV - Ovarian serous cystadenocarcinoma(39;0.00931)|COAD - Colon adenocarcinoma(8;0.15) aGCTAGTATACTAAGTGAACA 0.383 NA T||| 2654 0.529952 0.7057 0.6138 5008 , , NA 18184 0.6071 NA 0.2714 False NA ,,, NA NA NA 2504 0.4192 NA NA NA NA 2 Whole gene deletion(2) lung(2) NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB062485 CCDS6509.1 9p21 2013-05-29 ENSG00000099810 ENSG00000099810 4507 2.4.2.28 7413 protein-coding gene gene with protein product S-methyl-5'-thioadenosine phosphorylase 156540 NA 11126361 Standard NM_002451 NM_002451 NA Approved MSAP, c86fus uc003zph.3 Q13126 OTTHUMG00000019690 ENST00000380172.4:c.*2365C>T chr9.hg19:g.21864378C>T NA hg19 CCDS6509.1 0.02 8.573242 ATAxTAA COVERED NOVEL MTAP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000051927.2 1 11.136649 KEEP 0 0 0 37 1349 CC 1 1 0 + 11 60 398 0 0 26.487956 192 60 7160 287 ENST00000380172.4 0.054187 1 MTAP 4507 __UNKNOWN__ __UNKNOWN__ 9 21864535 21864535 __UNKNOWN__ 3'UTR SNP A A G rs3802394 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:21864535A>G ENST00000380172.4 + 0 3580 RP11-145E5.5_ENST00000404796.2_Intron|MTAP_ENST00000580900.1_Intron NM_002451.3 NP_002442.2 methylthioadenosine phosphorylase NA NA p.0(1)|p.0?(1) central_nervous_system(1)|endometrium(2)|kidney(3)|lung(3)|pancreas(1) 10 all_cancers(5;0)|Hepatocellular(5;0.00162)|Colorectal(97;0.173) GBM - Glioblastoma multiforme(3;0)|Lung(24;2.24e-57)|LUSC - Lung squamous cell carcinoma(38;1.97e-36)|STAD - Stomach adenocarcinoma(4;3.26e-05)|OV - Ovarian serous cystadenocarcinoma(39;0.00931)|COAD - Colon adenocarcinoma(8;0.15) CTGCTGTTATATTTGGCATGG 0.463 NA G||| 1317 0.262979 0.143 0.4294 5008 , , NA 22111 0.3919 NA 0.1918 False NA ,,, NA NA NA 2504 0.2474 NA NA NA NA 2 Whole gene deletion(2) lung(2) NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB062485 CCDS6509.1 9p21 2013-05-29 ENSG00000099810 ENSG00000099810 4507 2.4.2.28 7413 protein-coding gene gene with protein product S-methyl-5'-thioadenosine phosphorylase 156540 NA 11126361 Standard NM_002451 NM_002451 NA Approved MSAP, c86fus uc003zph.3 Q13126 OTTHUMG00000019690 ENST00000380172.4:c.*2522A>G chr9.hg19:g.21864535A>G NA hg19 CCDS6509.1 0.02 7.198136 TATxTTT COVERED NOVEL MTAP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000051927.2 2 6.617084 KEEP 0 0 0 22 656 AA 0.999879 0.999879 0 + 8 60 310 0 0 20.875708 159 60 5674 215 ENST00000380172.4 0.047904 1 MTAP 4507 __UNKNOWN__ __UNKNOWN__ 9 21865106 21865106 __UNKNOWN__ 3'UTR SNP T T C rs4977735 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:21865106T>C ENST00000380172.4 + 0 4151 RP11-145E5.5_ENST00000404796.2_Intron|MTAP_ENST00000580900.1_Intron NM_002451.3 NP_002442.2 methylthioadenosine phosphorylase NA NA p.0(1)|p.0?(1) central_nervous_system(1)|endometrium(2)|kidney(3)|lung(3)|pancreas(1) 10 all_cancers(5;0)|Hepatocellular(5;0.00162)|Colorectal(97;0.173) GBM - Glioblastoma multiforme(3;0)|Lung(24;2.24e-57)|LUSC - Lung squamous cell carcinoma(38;1.97e-36)|STAD - Stomach adenocarcinoma(4;3.26e-05)|OV - Ovarian serous cystadenocarcinoma(39;0.00931)|COAD - Colon adenocarcinoma(8;0.15) ccaaatctcatgttgaattgt 0.493 NA T||| 1354 0.270367 0.149 0.4308 5008 , , NA 19280 0.4147 NA 0.1948 False NA ,,, NA NA NA 2504 0.2495 NA NA NA NA 2 Whole gene deletion(2) lung(2) NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB062485 CCDS6509.1 9p21 2013-05-29 ENSG00000099810 ENSG00000099810 4507 2.4.2.28 7413 protein-coding gene gene with protein product S-methyl-5'-thioadenosine phosphorylase 156540 NA 11126361 Standard NM_002451 NM_002451 NA Approved MSAP, c86fus uc003zph.3 Q13126 OTTHUMG00000019690 ENST00000380172.4:c.*3093T>C chr9.hg19:g.21865106T>C NA hg19 CCDS6509.1 0.02 3.221145 TCAxGTT COVERED NOVEL MTAP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000051927.2 2 5.716498 KEEP 0 0 0 19 575 TT 0.99986 0.999859 0 + 5 60 165 0 0 9.656472 127 60 4644 156 ENST00000380172.4 0.037879 1 MTAP 4507 __UNKNOWN__ __UNKNOWN__ 9 21865842 21865842 __UNKNOWN__ 3'UTR SNP T T C rs6475592 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:21865842T>C ENST00000380172.4 + 0 4887 RP11-145E5.5_ENST00000404796.2_Intron|MTAP_ENST00000580900.1_Intron NM_002451.3 NP_002442.2 methylthioadenosine phosphorylase NA NA p.0(1)|p.0?(1) central_nervous_system(1)|endometrium(2)|kidney(3)|lung(3)|pancreas(1) 10 all_cancers(5;0)|Hepatocellular(5;0.00162)|Colorectal(97;0.173) GBM - Glioblastoma multiforme(3;0)|Lung(24;2.24e-57)|LUSC - Lung squamous cell carcinoma(38;1.97e-36)|STAD - Stomach adenocarcinoma(4;3.26e-05)|OV - Ovarian serous cystadenocarcinoma(39;0.00931)|COAD - Colon adenocarcinoma(8;0.15) agcttgtgccttttttattgc 0.338 NA C||| 2668 0.532748 0.711 0.6153 5008 , , NA 21151 0.6081 NA 0.2724 False NA ,,, NA NA NA 2504 0.4233 NA NA NA NA 2 Whole gene deletion(2) lung(2) NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB062485 CCDS6509.1 9p21 2013-05-29 ENSG00000099810 ENSG00000099810 4507 2.4.2.28 7413 protein-coding gene gene with protein product S-methyl-5'-thioadenosine phosphorylase 156540 NA 11126361 Standard NM_002451 NM_002451 NA Approved MSAP, c86fus uc003zph.3 Q13126 OTTHUMG00000019690 ENST00000380172.4:c.*3829T>C chr9.hg19:g.21865842T>C NA hg19 CCDS6509.1 0.02 6.188268 GCCxTTT COVERED NOVEL MTAP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000051927.2 1 5.115905 KEEP 0 0 0 17 547 TT 0.999366 0.999366 0 + 12 60 417 0 0 28.060775 179 60 6562 234 ENST00000380172.4 0.062827 1 MTAP 4507 __UNKNOWN__ __UNKNOWN__ 9 21866313 21866313 __UNKNOWN__ 3'UTR SNP C C G rs1418072 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:21866313C>G ENST00000380172.4 + 0 5358 RP11-145E5.5_ENST00000404796.2_Intron|MTAP_ENST00000580900.1_Intron NM_002451.3 NP_002442.2 methylthioadenosine phosphorylase NA NA p.0(1)|p.0?(1) central_nervous_system(1)|endometrium(2)|kidney(3)|lung(3)|pancreas(1) 10 all_cancers(5;0)|Hepatocellular(5;0.00162)|Colorectal(97;0.173) GBM - Glioblastoma multiforme(3;0)|Lung(24;2.24e-57)|LUSC - Lung squamous cell carcinoma(38;1.97e-36)|STAD - Stomach adenocarcinoma(4;3.26e-05)|OV - Ovarian serous cystadenocarcinoma(39;0.00931)|COAD - Colon adenocarcinoma(8;0.15) tgtgactattcttagtcttta 0.249 NA C||| 2291 0.457468 0.4871 0.5908 5008 , , NA 17476 0.5625 NA 0.2664 False NA ,,, NA NA NA 2504 0.411 NA NA NA NA 2 Whole gene deletion(2) lung(2) NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB062485 CCDS6509.1 9p21 2013-05-29 ENSG00000099810 ENSG00000099810 4507 2.4.2.28 7413 protein-coding gene gene with protein product S-methyl-5'-thioadenosine phosphorylase 156540 NA 11126361 Standard NM_002451 NM_002451 NA Approved MSAP, c86fus uc003zph.3 Q13126 OTTHUMG00000019690 ENST00000380172.4:c.*4300C>G chr9.hg19:g.21866313C>G NA hg19 CCDS6509.1 0.02 6.622358 ATTxTTA COVERED NOVEL MTAP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000051927.2 0 5.116459 KEEP 0 0 0 17 581 CC 0.999366 0.999366 0 + 6 60 234 0 0 14.754504 180 60 6735 221 ENST00000380172.4 0.032258 1 MTAP 4507 __UNKNOWN__ __UNKNOWN__ 9 21866500 21866500 __UNKNOWN__ 3'UTR SNP C C T rs2027484 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:21866500C>T ENST00000380172.4 + 0 5545 RP11-145E5.5_ENST00000404796.2_Intron|MTAP_ENST00000580900.1_Intron NM_002451.3 NP_002442.2 methylthioadenosine phosphorylase NA NA p.0(1)|p.0?(1) central_nervous_system(1)|endometrium(2)|kidney(3)|lung(3)|pancreas(1) 10 all_cancers(5;0)|Hepatocellular(5;0.00162)|Colorectal(97;0.173) GBM - Glioblastoma multiforme(3;0)|Lung(24;2.24e-57)|LUSC - Lung squamous cell carcinoma(38;1.97e-36)|STAD - Stomach adenocarcinoma(4;3.26e-05)|OV - Ovarian serous cystadenocarcinoma(39;0.00931)|COAD - Colon adenocarcinoma(8;0.15) tgactactcacttaattacct 0.323 NA T||| 2656 0.530351 0.7057 0.6124 5008 , , NA 17283 0.6091 NA 0.2694 False NA ,,, NA NA NA 2504 0.4223 NA NA NA NA 2 Whole gene deletion(2) lung(2) NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB062485 CCDS6509.1 9p21 2013-05-29 ENSG00000099810 ENSG00000099810 4507 2.4.2.28 7413 protein-coding gene gene with protein product S-methyl-5'-thioadenosine phosphorylase 156540 NA 11126361 Standard NM_002451 NM_002451 NA Approved MSAP, c86fus uc003zph.3 Q13126 OTTHUMG00000019690 ENST00000380172.4:c.*4487C>T chr9.hg19:g.21866500C>T NA hg19 CCDS6509.1 0.02 14.967675 TCAxTTA COVERED NOVEL MTAP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000051927.2 8 12.676393 KEEP 0 1 31 53 1909 CC 1 1 0 + 22 60 802 0 0 53.884583 371 60 13984 526 ENST00000380172.4 0.05598 1 RP11-145E5.5 0 __UNKNOWN__ __UNKNOWN__ 9 21930147 21930147 __UNKNOWN__ Intron SNP G G C rs7864029 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:21930147G>C ENST00000404796.2 + 5 460 MTAP_ENST00000580900.1_Intron NA NA p.0(1)|p.0?(1) NA TTCTAATGGAGTAaactcaaa 0.423 NA C||| 2379 0.47504 0.7874 0.4841 5008 , , NA 19946 0.4742 NA 0.1859 False NA ,,, NA NA NA 2504 0.3446 NA NA NA NA 2 Whole gene deletion(2) lung(2) NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000404796.2:c.348-99285G>C chr9.hg19:g.21930147G>C NA hg19 0.02 4.936085 GGAxTAA COVERED NOVEL RP11-145E5.5-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000445913.1 0 4.815788 KEEP 0 0 0 16 577 GG 0.997832 0.997821 0 + 8 60 308 0 0 22.267538 99 60 3655 139 ENST00000404796.2 0.074766 0.999989 RP11-145E5.5 0 __UNKNOWN__ __UNKNOWN__ 9 21968159 21968159 __UNKNOWN__ Intron SNP G G A rs3088440 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:21968159G>A ENST00000404796.2 + 5 460 CDKN2A_ENST00000530628.2_3'UTR|CDKN2A_ENST00000578845.2_3'UTR|CDKN2A_ENST00000304494.5_3'UTR|CDKN2A_ENST00000498628.2_3'UTR|CDKN2A_ENST00000498124.1_3'UTR|CDKN2A_ENST00000579755.1_3'UTR|CDKN2A_ENST00000361570.3_3'UTR|CDKN2A_ENST00000579122.1_3'UTR NA NA p.0?(198)|p.0(1)|p.?(1) NA GGGCAGTTGTGGCCCTGTAGG 0.478 NA G||| 851 0.169928 0.174 0.3386 5008 , , NA 8669 0.131 NA 0.0785 False NA ,,, NA NA NA 2504 0.1789 NA NA NA NA 200 Whole gene deletion(199)|Unknown(1) haematopoietic_and_lymphoid_tissue(34)|central_nervous_system(31)|lung(31)|skin(16)|kidney(14)|oesophagus(12)|bone(10)|pancreas(10)|urinary_tract(7)|breast(6)|soft_tissue(5)|thyroid(4)|pleura(4)|large_intestine(3)|stomach(3)|liver(3)|ovary(3)|upper_aerodigestive_tract(1)|vulva(1)|biliary_tract(1)|autonomic_ganglia(1) G ,,, 239,1145 19,201,472 70 75 74 ,,, -3 0 9 dbSNP_102 74 264,2918 11,242,1338 no utr-3,utr-3,utr-3,utr-3 CDKN2A NM_000077.4,NM_001195132.1,NM_058195.3,NM_058197.4 ,,, 30,443,1810 AA,AG,GG 8.2967,17.2688,11.0162 ,,, ,,, 21968159 503,4063 692 1591 2283 SO:0001627 intron_variant NA NA NA NA ENST00000404796.2:c.348-61273G>A chr9.hg19:g.21968159G>A NA hg19 0.02 6.821455 TGTxGCC COVERED NOVEL RP11-145E5.5-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000445913.1 0 9.931865 KEEP 0 0 0 33 1142 GG 0.999998 0.999998 0 + 6 60 219 0 0 13.798309 146 60 5391 257 ENST00000404796.2 0.039474 1 TUSC1 286319 __UNKNOWN__ __UNKNOWN__ 9 25677933 25677933 __UNKNOWN__ Silent SNP T T C rs35110225 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:25677933T>C ENST00000358022.3 - 1 923 c.387A>G c.(385-387)gcA>gcG p.A129A NM_001004125.2 NP_001004125.1 Q2TAM9 TUSC1_HUMAN tumor suppressor candidate 1 129 NA kidney(1) 1 all_hematologic(1;0.197) all_neural(3;5.42e-18)|Glioma(3;5.54e-17) GBM - Glioblastoma multiforme(1;1.51e-108)|Lung(42;2.88e-14)|LUSC - Lung squamous cell carcinoma(38;3.16e-11) GGACCCGGCGTGCCTCCGCGG 0.721 NA C||| 2141 0.427516 0.4932 0.4424 5008 , , NA 8279 0.2748 NA 0.5785 False NA ,,, NA NA NA 2504 0.3303 NA NA NA Pancreas(19;648 672 25630 30820 31331) NA 0 C 2004,1864 591,822,521 3 4 4 387 0.6 0 9 dbSNP_126 4 4506,3252 1430,1646,803 no coding-synonymous TUSC1 NM_001004125.2 2021,2468,1324 CC,CT,TT 41.918,48.1903,44.0048 129/213 25677933 6510,5116 1934 3879 5813 SO:0001819 synonymous_variant AY168647 CCDS34999.1 9p21.2 2014-05-22 ENSG00000198680 ENSG00000198680 286319 31010 protein-coding gene gene with protein product 610529 NA 15208665 Standard NM_001004125 NM_001004125 NA Approved TSG-9 uc003zpx.3 Q2TAM9 OTTHUMG00000159591 ENST00000358022.3:c.387A>G chr9.hg19:g.25677933T>C NA A0PJ78|Q67GI3|Q86SS1|Q8TAH8 hg19 CCDS34999.1 0.02 5.840505 GCGxGCC COVERED NOVEL TUSC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000356351.1 0 50.482751 KEEP 0 1 30 179 5205 TT 1 1 0 - 7 60 239 0 0 14.141917 189 60 6336 478 ENST00000358022.3 0.035714 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 25678887 25678887 __UNKNOWN__ IGR SNP G G A rs60018547 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:25678887G>A NA NA TUSC1 (31 upstream) : RP11-33G16.1 (101166 downstream) NA NA NA GGGGTTTCCCGGTGGAAACAC 0.418 NA A||| 1450 0.289537 0.4123 0.255 5008 , , NA 17861 0.1528 NA 0.3777 False NA ,,, NA NA NA 2504 0.1984 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.25678887G>A NA hg19 0.02 -0.368471 CCCxGTG COVERED NOVEL 0 0 5.115981 KEEP 0 0 0 17 572 GG 0.999366 0.898744 0 3 60 108 1 0 7.539049 39 60 1411 70 0.071429 0.899314 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 26116157 26116157 __UNKNOWN__ IGR SNP G G A rs12376729 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:26116157G>A NA NA RP11-33G16.1 (331597 upstream) : AL442639.1 (497880 downstream) NA NA NA AGAGTCAAAGGACATTCCAGA 0.413 NA G||| 474 0.0946486 0.0741 0.0548 5008 , , NA 11731 0.1448 NA 0.0785 False NA ,,, NA NA NA 2504 0.1155 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.26116157G>A NA hg19 0.02 18.873251 AAGxACA COVERED NOVEL 0 2 11.663702 KEEP 0 1 26 48 1658 GG 1 1 0 18 60 648 0 0 40.054406 463 60 17350 613 0.037422 1 PLAA 9373 __UNKNOWN__ __UNKNOWN__ 9 26904699 26904699 __UNKNOWN__ 3'UTR SNP T T G rs16910873 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:26904699T>G ENST00000397292.3 - 0 3615 NM_001031689.2 NP_001026859.1 Q9Y263 PLAP_HUMAN phospholipase A2-activating protein NA NA inflammatory response (GO:0006954)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165) extracellular vesicular exosome (GO:0070062) phospholipase A2 activator activity (GO:0016005) breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1) 17 all_neural(3;3.53e-10)|Glioma(3;2.71e-09) Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011) TACAGTTTGATGTACTCTTGC 0.323 NA T||| 402 0.0802716 0.1059 0.0591 5008 , , NA 16190 0.0099 NA 0.0885 False NA ,,, NA NA NA 2504 0.1247 NA NA NA Melanoma(175;2670 2735 14091 35526) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF083395 CCDS35000.1 9p21 2013-01-10 ENSG00000137055 ENSG00000137055 9373 WD repeat domain containing 9043 protein-coding gene gene with protein product DOA1 homolog (S. cerevisiae) 603873 NA 9931468, 10644453 Standard NM_001031689 NM_001031689 NA Approved PLAP, PLA2P, FLJ11281, FLJ12699, DOA1 uc003zqd.3 Q9Y263 OTTHUMG00000019708 ENST00000397292.3:c.*810A>C chr9.hg19:g.26904699T>G NA Q53EU5|Q5VY33|Q9NUL8|Q9NVE9|Q9UF53|Q9Y5L1 hg19 CCDS35000.1 0.02 7.151755 TGAxGTA COVERED NOVEL PLAA-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000051958.2 0 11.733745 KEEP 0 0 0 39 1190 TT 1 1 0 - 10 60 369 0 0 24.573228 184 60 6674 282 ENST00000397292.3 0.051546 1 IFT74 80173 __UNKNOWN__ __UNKNOWN__ 9 27036483 27036483 __UNKNOWN__ Intron SNP A A C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:27036483A>C ENST00000443698.1 + 13 1225 IFT74_ENST00000380062.5_Intron|IFT74_ENST00000433700.1_Intron|IFT74_ENST00000429045.2_Missense_Mutation_p.N364H NM_001099222.1 NP_001092692.1 Q96LB3 IFT74_HUMAN intraflagellar transport 74 NA NA cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|keratinocyte development (GO:0003334)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944) centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|nucleus (GO:0005634) beta-tubulin binding (GO:0048487)|chromatin binding (GO:0003682) endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1) 6 all_neural(11;2.36e-10) Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114) acttgaaaaaaatacaggaag 0.378 NA NA NA NA NA NA NA NA NA NA NA 0 90 86 87 NA NA 9 NA 27036483 1832 4091 5923 SO:0001627 intron_variant AK023707 CCDS43793.1, CCDS47955.1 9p21.1 2014-07-03 2014-07-03 2005-11-02 ENSG00000096872 ENSG00000096872 80173 Intraflagellar transport homologs 21424 protein-coding gene gene with protein product capillary morphogenesis protein 1 608040 coiled-coil domain containing 2, intraflagellar transport 74 homolog (Chlamydomonas) CCDC2 NA 11683410 Standard NM_025103 NM_001099223 NA Approved CMG1, CMG-1, FLJ22621 uc003zqg.4 Q96LB3 OTTHUMG00000021028 ENST00000443698.1:c.1054+7381A>C chr9.hg19:g.27036483A>C NA Q3B789|Q5VY34|Q6PGQ8|Q9H643|Q9H8G7 hg19 CCDS43793.1 0.02 36.09024 AAAxATA COVERED . . . . . . . . . . A 5.798 0.331482 0.10956 . . ENSG00000096872 ENST00000429045 T 0.14144 2.53 2.09 -2.86 0.05717 . . . . . T 0.07593 0.0191 . . . 0.09310 N 1 B 0.33512 0.415 B 0.34301 0.179 T 0.30794 -0.9966 8 0.46703 T 0.11 . 0.3119 0.00289 0.3245:0.2962:0.168:0.2113 . 364 Q96LB3-2 . H 364 ENSP00000393907:N364H ENSP00000393907:N364H N + 1 0 IFT74 27026483 0.001000 0.12720 0.000000 0.03702 0.006000 0.05464 -0.010000 0.12743 -0.634000 0.05538 -0.478000 0.04885 AAT NOVEL IFT74-202 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055476.2 5 27.683805 KEEP 0 0 0 92 2934 AA 1 1 0 + 24 60 906 0 0 55.116139 787 60 28462 1074 ENST00000443698.1 0.029593 1 MOB3B 79817 __UNKNOWN__ __UNKNOWN__ 9 27328886 27328886 __UNKNOWN__ 3'UTR SNP C C A rs3739532 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:27328886C>A ENST00000262244.5 - 0 2774 NM_024761.4 NP_079037.3 Q86TA1 MOB3B_HUMAN MOB kinase activator 3B NA NA metal ion binding (GO:0046872) NA GGAAGGGGGACAAAAGTATGT 0.438 NA A||| 2671 0.533347 0.5061 0.4669 5008 , , NA 19818 0.7212 NA 0.4821 False NA ,,, NA NA NA 2504 0.4765 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK023266 CCDS6520.1 9p21.1 2012-07-05 2011-09-28 2011-09-28 ENSG00000120162 ENSG00000120162 79817 MOB kinase activators 23825 protein-coding gene gene with protein product monopolar spindle 1 binding, MOB1, domain containing MOB1, Mps One Binder kinase activator-like 2B (yeast), chromosome 9 open reading frame 35 MOBKL2B, C9orf35 NA 12477932 Standard NM_024761 NM_024761 NA Approved MOB1D, FLJ13204 uc003zqn.3 Q86TA1 OTTHUMG00000019717 ENST00000262244.5:c.*1699G>T chr9.hg19:g.27328886C>A NA Q8NEB4|Q9H8V4 hg19 CCDS6520.1 0.02 3.95889 GGAxAAA COVERED NOVEL MOB3B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000051974.2 0 7.524775 KEEP 0 0 0 25 904 CC 0.999931 0.999928 0 - 5 60 182 0 0 11.63777 111 60 4070 174 ENST00000262244.5 0.043103 0.999997 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 29824057 29824057 __UNKNOWN__ IGR SNP T T C rs10738827 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:29824057T>C NA NA MIR873 (935104 upstream) : snoU13 (354415 downstream) NA NA NA cgtgaaccactggtcccagtc 0.453 NA C||| 2979 0.594848 0.6483 0.6124 5008 , , NA 14084 0.6081 NA 0.5954 False NA ,,, NA NA NA 2504 0.4959 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.29824057T>C NA hg19 0.02 -0.386016 CACxGGT COVERED NOVEL 0 1 3.310098 KEEP 0 0 0 11 345 TT 0.993072 0.91181 0 4 60 129 0 0 8.990997 40 60 1513 59 0.090909 0.918171 TMEM215 401498 __UNKNOWN__ __UNKNOWN__ 9 32784838 32784838 __UNKNOWN__ Silent SNP T T C rs1810807 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:32784838T>C ENST00000342743.5 + 2 1022 c.657T>C c.(655-657)tgT>tgC p.C219C NM_212558.2 NP_997723.2 Q68D42 TM215_HUMAN transmembrane protein 215 219 NA integral component of membrane (GO:0016021) endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2) 12 ACAGATACTGTTGTTATATCA 0.483 NA T||| 864 0.172524 0.0575 0.2277 5008 , , NA 23201 0.2183 NA 0.2753 False NA ,,, NA NA NA 2504 0.136 NA NA NA NA 0 T 415,3957 25,365,1796 74 65 68 657 2 1 9 dbSNP_92 68 2306,6226 336,1634,2296 yes coding-synonymous TMEM215 NM_212558.2 361,1999,4092 CC,CT,TT 27.0277,9.4922,21.0865 219/236 32784838 2721,10183 2186 4266 6452 SO:0001819 synonymous_variant CCDS6530.1 9p21.1 2008-08-08 ENSG00000188133 ENSG00000188133 401498 33816 protein-coding gene gene with protein product NA Standard NM_212558 NM_212558 NA Approved uc003zri.4 Q68D42 OTTHUMG00000129521 ENST00000342743.5:c.657T>C chr9.hg19:g.32784838T>C NA Q6ZUU2 hg19 CCDS6530.1 0.02 13.509022 CTGxTGT COVERED NOVEL TMEM215-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251701.1 0 10.831818 KEEP 0 0 0 36 1124 TT 0.999999 0.999999 0 + 13 60 497 0 0 31.879967 331 60 11606 434 ENST00000342743.5 0.037791 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 33004855 33004855 __UNKNOWN__ IGR SNP A A G rs142941697 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:33004855A>G NA NA APTX (3216 upstream) : APTX (11030 downstream) NA NA NA ggccaggctgatctcaaactc 0.498 NA G||| 182 0.0363419 0.0083 0.0519 5008 , , NA 13764 0.004 NA 0.1024 False NA ,,, NA NA NA 2504 0.0286 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.33004855A>G NA hg19 0.02 -0.026319 CTGxTCT UNCOVERED NOVEL 0 3 2.406772 KEEP 1 0 0 8 246 AA 0.99257 0 0 3 59 109 0 0 12.330906 0 0 0 14 1 0 SMU1 55234 __UNKNOWN__ __UNKNOWN__ 9 33044516 33044516 __UNKNOWN__ 3'UTR SNP G G C rs3814517 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:33044516G>C ENST00000397149.3 - 0 4367 NM_018225.2 NP_060695.2 Q2TAY7 SMU1_HUMAN smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans) NA NA cytoplasm (GO:0005737)|nucleus (GO:0005634) endometrium(2)|lung(4)|ovary(2)|prostate(1) 9 LUSC - Lung squamous cell carcinoma(29;0.0227) GBM - Glioblastoma multiforme(74;0.11) TGGCTGTAAGGGCGCTGGAGG 0.721 NA G||| 347 0.0692891 0.0091 0.0951 5008 , , NA 11942 0.123 NA 0.0358 False NA ,,, NA NA NA 2504 0.1115 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK001667 CCDS6534.1 9p12 2013-01-10 ENSG00000122692 ENSG00000122692 55234 WD repeat domain containing 18247 protein-coding gene gene with protein product functional spliceosome-associated protein 57 NA 11438655, 11410362 Standard NM_018225 NM_018225 NA Approved SMU-1, FLJ10805, BWD, fSAP57 uc003zsf.1 Q2TAY7 OTTHUMG00000019757 ENST00000397149.3:c.*2775C>G chr9.hg19:g.33044516G>C NA B4E3L0|Q9BU59|Q9HA96|Q9NVD1 hg19 CCDS6534.1 0.02 4.291326 AAGxGCG COVERED NOVEL SMU1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000052022.1 2 27.084907 KEEP 0 0 0 90 3041 GG 1 1 0 - 8 60 264 0 0 17.059075 127 60 4643 258 ENST00000397149.3 0.059259 1 B4GALT1 2683 __UNKNOWN__ __UNKNOWN__ 9 33135238 33135238 __UNKNOWN__ Silent SNP G G A rs1065765 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:33135238G>A ENST00000379731.4 - 2 783 c.597C>T c.(595-597)caC>caT p.H199H B4GALT1_ENST00000535206.1_Silent_p.H199H NM_001497.3 NP_001488.2 P15291 B4GT1_HUMAN UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 199 NA acute inflammatory response (GO:0002526)|angiogenesis involved in wound healing (GO:0060055)|binding of sperm to zona pellucida (GO:0007339)|branching morphogenesis of an epithelial tube (GO:0048754)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|development of secondary sexual characteristics (GO:0045136)|epithelial cell development (GO:0002064)|extracellular matrix organization (GO:0030198)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|lactose biosynthetic process (GO:0005989)|leukocyte migration (GO:0050900)|mammary gland development (GO:0030879)|multicellular organism reproduction (GO:0032504)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|oligosaccharide biosynthetic process (GO:0009312)|penetration of zona pellucida (GO:0007341)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of acrosome reaction (GO:0060046)|regulation of cellular component movement (GO:0051270)|single fertilization (GO:0007338)|small molecule metabolic process (GO:0044281) basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|desmosome (GO:0030057)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|glycocalyx (GO:0030112)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi trans cisterna (GO:0000138)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) alpha-tubulin binding (GO:0043014)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|beta-tubulin binding (GO:0048487)|galactosyltransferase activity (GO:0008378)|lactose synthase activity (GO:0004461)|manganese ion binding (GO:0030145)|N-acetyllactosamine synthase activity (GO:0003945)|protein homodimerization activity (GO:0042803)|UDP-galactosyltransferase activity (GO:0035250) endometrium(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1) 14 LUSC - Lung squamous cell carcinoma(29;0.0084) GBM - Glioblastoma multiforme(74;0.121) N-Acetyl-D-glucosamine(DB00141) GCAGGACTGGGTGCAAATAAT 0.552 NA G||| 237 0.0473243 0.0492 0.0331 5008 , , NA 20554 0.0585 NA 0.0626 False NA ,,, NA NA NA 2504 0.0276 NA NA NA NA 0 G 167,4239 112.1+/-150.2 3,161,2039 87 80 83 597 3.3 1 9 dbSNP_86 83 569,8031 154.3+/-208.6 20,529,3751 no coding-synonymous B4GALT1 NM_001497.3 23,690,5790 AA,AG,GG 6.6163,3.7903,5.6589 199/399 33135238 736,12270 2203 4300 6503 SO:0001819 synonymous_variant X14085 CCDS6535.1 9p13 2013-02-19 ENSG00000086062 ENSG00000086062 2683 2.4.1.22 Beta 4-glycosyltransferases 924 protein-coding gene gene with protein product 137060 GGTB2 NA 9597550 Standard NM_001497 NM_001497 NA Approved beta4Gal-T1 uc003zsg.2 P15291 OTTHUMG00000019764 ENST00000379731.4:c.597C>T chr9.hg19:g.33135238G>A NA B2R710|D3DRL2|Q12909|Q12910|Q12911|Q14456|Q14509|Q14523 hg19 CCDS6535.1 0.02 11.245303 TGGxTGC COVERED NOVEL B4GALT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000052039.1 2 38.390454 KEEP 0 2 58 148 5147 GG 1 1 0 - 11 60 400 0 0 25.243117 262 60 9515 505 ENST00000379731.4 0.040293 1 AQP7 364 __UNKNOWN__ __UNKNOWN__ 9 33386378 33386378 __UNKNOWN__ Intron SNP C C T rs74462413 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:33386378C>T ENST00000537089.1 - 4 449 AQP7_ENST00000541274.1_Intron|AQP7_ENST00000539936.1_Intron|AQP7_ENST00000377425.4_Intron O14520 AQP7_HUMAN aquaporin 7 NA NA excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833) cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) glycerol channel activity (GO:0015254)|water channel activity (GO:0015250) NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) AGGCCAGAGGCGGACACCCGG 0.547 NA -||| 2 0.000399361 0.0 0.0 5008 , , NA 16080 0.0 NA 0.001 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 11 14 13 NA NA 9 NA 33386378 2194 4277 6471 SO:0001627 intron_variant AB006190 CCDS6541.1 9p13 2008-02-05 ENSG00000165269 ENSG00000165269 364 Ion channels / Aquaporins 640 protein-coding gene gene with protein product 602974 AQP7L NA 9252401 Standard NM_001170 NM_001170 NA Approved AQP9, AQPap uc003zst.3 O14520 OTTHUMG00000019773 ENST00000537089.1:c.130+23G>A chr9.hg19:g.33386378C>T NA Q08E94|Q5T5L9|Q8NHM3 hg19 0.02 6.064131 AGGxGGA COVERED NOVEL AQP7-202 KNOWN basic protein_coding NA protein_coding 0 7.086122 KEEP 6 2 52 42 1417 CC 1 1 0 - 15 45 503 0 0 36.427424 132 60 4807 260 ENST00000537089.1 0.102041 1 AQP7 364 __UNKNOWN__ __UNKNOWN__ 9 33389412 33389412 __UNKNOWN__ Intron SNP G G A rs56166415 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:33389412G>A ENST00000537089.1 - 4 311 AQP7_ENST00000541274.1_Intron|AQP7_ENST00000539936.1_Intron|AQP7_ENST00000377425.4_Intron O14520 AQP7_HUMAN aquaporin 7 NA NA excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833) cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) glycerol channel activity (GO:0015254)|water channel activity (GO:0015250) NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) gccttaagcagtcctctcacc 0.483 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB006190 CCDS6541.1 9p13 2008-02-05 ENSG00000165269 ENSG00000165269 364 Ion channels / Aquaporins 640 protein-coding gene gene with protein product 602974 AQP7L NA 9252401 Standard NM_001170 NM_001170 NA Approved AQP9, AQPap uc003zst.3 O14520 OTTHUMG00000019773 ENST00000537089.1:c.8-2873C>T chr9.hg19:g.33389412G>A NA Q08E94|Q5T5L9|Q8NHM3 hg19 0.02 -0.078959 GCAxTCC UNCOVERED NOVEL AQP7-202 KNOWN basic protein_coding NA protein_coding 3 4.51469 KEEP 0 0 0 15 535 GG 0.99649 0.077064 0 - 3 35 102 0 0 9.143333 6 60 231 31 ENST00000537089.1 0.333333 0.077336 AQP7 364 __UNKNOWN__ __UNKNOWN__ 9 33395031 33395031 __UNKNOWN__ Intron SNP G G A rs72707429 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:33395031G>A ENST00000537089.1 - 3 311 AQP7_ENST00000541274.1_Intron|AQP7_ENST00000539936.1_Intron|AQP7_ENST00000377425.4_Intron O14520 AQP7_HUMAN aquaporin 7 NA NA excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833) cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) glycerol channel activity (GO:0015254)|water channel activity (GO:0015250) NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) GGTCATGGACGGCCCTGGCGG 0.602 NA NA NA NA NA NA NA NA NA NA NA 0 71 53 59 NA NA 9 NA 33395031 2203 4300 6503 SO:0001627 intron_variant AB006190 CCDS6541.1 9p13 2008-02-05 ENSG00000165269 ENSG00000165269 364 Ion channels / Aquaporins 640 protein-coding gene gene with protein product 602974 AQP7L NA 9252401 Standard NM_001170 NM_001170 NA Approved AQP9, AQPap uc003zst.3 O14520 OTTHUMG00000019773 ENST00000537089.1:c.7+44C>T chr9.hg19:g.33395031G>A NA Q08E94|Q5T5L9|Q8NHM3 hg19 0.02 4.66634 GACxGCC COVERED NOVEL AQP7-202 KNOWN basic protein_coding NA protein_coding 17 2.70839 KEEP 0 0 0 9 295 GG 0.99254 0.992537 0 - 39 60 1432 0 0 132.555546 62 60 1999 129 ENST00000537089.1 0.386139 0.999997 AQP7 364 __UNKNOWN__ __UNKNOWN__ 9 33395039 33395039 __UNKNOWN__ Intron SNP C C T rs72707431 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:33395039C>T ENST00000537089.1 - 3 311 AQP7_ENST00000541274.1_Intron|AQP7_ENST00000539936.1_Intron|AQP7_ENST00000377425.4_Intron O14520 AQP7_HUMAN aquaporin 7 NA NA excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833) cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) glycerol channel activity (GO:0015254)|water channel activity (GO:0015250) NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) ACGGCCCTGGCGGAGCCCCAC 0.592 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB006190 CCDS6541.1 9p13 2008-02-05 ENSG00000165269 ENSG00000165269 364 Ion channels / Aquaporins 640 protein-coding gene gene with protein product 602974 AQP7L NA 9252401 Standard NM_001170 NM_001170 NA Approved AQP9, AQPap uc003zst.3 O14520 OTTHUMG00000019773 ENST00000537089.1:c.7+36G>A chr9.hg19:g.33395039C>T NA Q08E94|Q5T5L9|Q8NHM3 hg19 0.02 4.523653 TGGxGGA COVERED NOVEL AQP7-202 KNOWN basic protein_coding NA protein_coding 17 3.009492 KEEP 0 0 0 10 341 CC 0.992708 0.992706 0 - 41 60 1414 0 0 130.262481 65 60 2329 144 ENST00000537089.1 0.386792 0.999999 AQP7 364 __UNKNOWN__ __UNKNOWN__ 9 33395108 33395108 __UNKNOWN__ Silent SNP G G A rs2381003 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:33395108G>A ENST00000539936.1 - 3 350 c.112C>T c.(112-114)Ctg>Ttg p.L38L AQP7_ENST00000541274.1_5'UTR|AQP7_ENST00000537089.1_5'UTR|AQP7_ENST00000377425.4_Intron O14520 AQP7_HUMAN aquaporin 7 38 NA L -> V (in dbSNP:rs2381003). excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833) cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) glycerol channel activity (GO:0015254)|water channel activity (GO:0015250) NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) AACTCGGCCAGGAACTCTCGC 0.587 NA NA NA NA NA NA NA NA NA NA NA 0 129 86 101 NA NA 9 NA 33395108 2203 4300 6503 SO:0001819 synonymous_variant AB006190 CCDS6541.1 9p13 2008-02-05 ENSG00000165269 ENSG00000165269 364 Ion channels / Aquaporins 640 protein-coding gene gene with protein product 602974 AQP7L NA 9252401 Standard NM_001170 NM_001170 NA Approved AQP9, AQPap uc003zst.3 O14520 OTTHUMG00000019773 ENST00000539936.1:c.112C>T chr9.hg19:g.33395108G>A NA Q08E94|Q5T5L9|Q8NHM3 hg19 0.02 6.932756 CCAxGAA COVERED NOVEL AQP7-203 KNOWN basic protein_coding NA protein_coding 2 12.34057 KEEP 0 0 0 41 1473 GG 1 1 0 - 8 60 299 0 0 20.180368 141 60 5301 247 ENST00000539936.1 0.053691 1 AQP7 364 __UNKNOWN__ __UNKNOWN__ 9 33395216 33395216 __UNKNOWN__ Intron SNP T T G rs73645286 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:33395216T>G ENST00000537089.1 - 3 193 AQP7_ENST00000541274.1_Intron|AQP7_ENST00000539936.1_Intron|AQP7_ENST00000377425.4_Intron O14520 AQP7_HUMAN aquaporin 7 NA NA excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833) cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) glycerol channel activity (GO:0015254)|water channel activity (GO:0015250) NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) CCCGAGCCCATGGACAGAAAG 0.567 NA NA NA NA NA NA NA NA NA NA NA 0 37 29 32 NA NA 9 NA 33395216 2203 4298 6501 SO:0001627 intron_variant AB006190 CCDS6541.1 9p13 2008-02-05 ENSG00000165269 ENSG00000165269 364 Ion channels / Aquaporins 640 protein-coding gene gene with protein product 602974 AQP7L NA 9252401 Standard NM_001170 NM_001170 NA Approved AQP9, AQPap uc003zst.3 O14520 OTTHUMG00000019773 ENST00000537089.1:c.126-23A>C chr9.hg19:g.33395216T>G NA Q08E94|Q5T5L9|Q8NHM3 hg19 0.02 7.107628 CCAxGGA COVERED . . . . . . . . . . T 12.46 1.943405 0.34283 . . ENSG00000165269 ENST00000379507;ENST00000379506 D;D 0.84146 -1.81;-1.69 3.74 -0.00257 0.14029 . . . . . T 0.74176 0.3682 . . . 0.19945 N 0.999942 B 0.02656 0.0 B 0.01281 0.0 T 0.62637 -0.6812 8 0.87932 D 0 . 2.3696 0.04327 0.2117:0.2486:0.0:0.5398 . 1 Q5T5M0 . L 1 ENSP00000368821:M1L;ENSP00000368820:M1L ENSP00000368820:M1L M - 1 0 AQP7 33385216 0.000000 0.05858 0.013000 0.15412 0.272000 0.26649 0.226000 0.17776 -0.004000 0.14419 -0.432000 0.05891 ATG NOVEL AQP7-202 KNOWN basic protein_coding NA protein_coding 1 4.380796 KEEP 6 3 104 51 1515 TT 1 1 0 - 7 40 250 0 0 15.547981 170 60 6156 296 ENST00000537089.1 0.039548 1 AQP7 364 __UNKNOWN__ __UNKNOWN__ 9 33395365 33395365 __UNKNOWN__ Intron SNP C C T rs2381006 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:33395365C>T ENST00000537089.1 - 3 193 AQP7_ENST00000541274.1_Intron|AQP7_ENST00000539936.1_Intron|AQP7_ENST00000377425.4_Intron O14520 AQP7_HUMAN aquaporin 7 NA NA excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833) cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) glycerol channel activity (GO:0015254)|water channel activity (GO:0015250) NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) TTGAGAGCCACGGGGACATGG 0.572 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB006190 CCDS6541.1 9p13 2008-02-05 ENSG00000165269 ENSG00000165269 364 Ion channels / Aquaporins 640 protein-coding gene gene with protein product 602974 AQP7L NA 9252401 Standard NM_001170 NM_001170 NA Approved AQP9, AQPap uc003zst.3 O14520 OTTHUMG00000019773 ENST00000537089.1:c.126-172G>A chr9.hg19:g.33395365C>T NA Q08E94|Q5T5L9|Q8NHM3 hg19 0.02 1.963026 CCAxGGG COVERED NOVEL AQP7-202 KNOWN basic protein_coding NA protein_coding 0 4.514286 KEEP 0 0 0 15 513 CC 0.99649 0.99641 0 - 8 41 294 0 0 21.337894 86 60 2830 123 ENST00000537089.1 0.085106 0.999919 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 33613927 33613927 __UNKNOWN__ IGR SNP G G T rs12346912 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:33613927G>T NA NA RP11-255A11.21 (8647 upstream) : TRBV20OR9-2 (3832 downstream) NA NA NA CAGCATTCAGGGACACCTGGT 0.542 NA g||| 1542 0.307907 0.3434 0.2608 5008 , , NA 19164 0.3631 NA 0.2893 False NA ,,, NA NA NA 2504 0.2556 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.33613927G>T NA hg19 0.02 2.006786 CAGxGAC COVERED NOVEL 0 1 2.407579 KEEP 0 0 0 8 265 GG 0.99257 0.992376 0 4 60 148 0 0 11.592921 26 60 1007 99 0.133333 0.999804 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 33625082 33625082 __UNKNOWN__ IGR SNP G G C rs10758216 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:33625082G>C NA NA TRBV20OR9-2 (6578 upstream) : TRBV21OR9-2 (4036 downstream) NA NA p.A271P(1) NA CTTGTATTTTGCTGATCAGCT 0.468 NA g||| 1491 0.297724 0.2905 0.3256 5008 , , NA 22159 0.2956 NA 0.3777 False NA ,,, NA NA NA 2504 0.2076 NA NA NA NA 1 Substitution - Missense(1) stomach(1) NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.33625082G>C NA hg19 0.02 22.278984 TTTxCTG COVERED NOVEL 0 3 28.292525 KEEP 0 0 0 94 3407 GG 1 1 0 33 60 1210 0 0 84.239711 458 60 17570 716 0.06721 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 33625360 33625360 __UNKNOWN__ IGR SNP T T C rs10971607 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:33625360T>C NA NA TRBV20OR9-2 (6856 upstream) : TRBV21OR9-2 (3758 downstream) NA NA NA ctactaaacatacaaaagttt 0.572 NA .||| 1265 0.252596 0.2065 0.2867 5008 , , NA 17936 0.2937 NA 0.3101 False NA ,,, NA NA NA 2504 0.1892 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.33625360T>C NA hg19 0.02 9.54686 ACAxACA COVERED NOVEL 0 3 9.883293 KEEP 0 0 0 33 991 TT 0.999998 0.999998 0 16 60 579 0 0 40.788948 201 60 6905 268 0.073733 1 TRBV21OR9-2 6959 __UNKNOWN__ __UNKNOWN__ 9 33629238 33629238 __UNKNOWN__ RNA SNP T T C rs10814016 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:33629238T>C ENST00000331828.4 + 0 71 T cell receptor beta variable 21/OR9-2 (pseudogene) NA NA NA GACTCTCTCCTGTGGCTGCAG 0.532 NA T||| 1491 0.297724 0.2897 0.3256 5008 , , NA 16200 0.2956 NA 0.3787 False NA ,,, NA NA NA 2504 0.2076 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA L05151 9p21 2012-06-12 2012-06-12 ENSG00000183938 ENSG00000183938 6959 T cell receptors / TRB orphons 12199 pseudogene T cell receptor pseudogene T-cell receptor, beta variable region 10, orphon T cell receptor beta variable 21/OR9-2, T cell receptor beta variable 21/OR9-2 (non-functional) TCRBV10O NA 8384723 Standard NG_001337 NG_001337 NA Approved TRBV21/OR9-2, TCRBV10S2O, TCRBV21S2 OTTHUMG00000019783 ENST00000331828.4: chr9.hg19:g.33629238T>C NA hg19 0.02 1.528824 TCCxGTG COVERED NOVEL TRBV21OR9-2-001 KNOWN mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal TR_V_gene NA TR_V_gene OTTHUMT00000052094.2 1 7.821922 KEEP 0 0 0 26 788 TT 0.999957 0.999905 0 + 5 60 173 0 0 11.113526 93 60 3473 141 ENST00000331828.4 0.05102 0.999948 TRBV21OR9-2 6959 __UNKNOWN__ __UNKNOWN__ 9 33629249 33629249 __UNKNOWN__ RNA SNP T T C rs10814017 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:33629249T>C ENST00000331828.4 + 0 71 T cell receptor beta variable 21/OR9-2 (pseudogene) NA NA NA GTGGCTGCAGTATCAGGCTCC 0.512 NA T||| 1488 0.297125 0.289 0.3256 5008 , , NA 15938 0.2956 NA 0.3767 False NA ,,, NA NA NA 2504 0.2076 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA L05151 9p21 2012-06-12 2012-06-12 ENSG00000183938 ENSG00000183938 6959 T cell receptors / TRB orphons 12199 pseudogene T cell receptor pseudogene T-cell receptor, beta variable region 10, orphon T cell receptor beta variable 21/OR9-2, T cell receptor beta variable 21/OR9-2 (non-functional) TCRBV10O NA 8384723 Standard NG_001337 NG_001337 NA Approved TRBV21/OR9-2, TCRBV10S2O, TCRBV21S2 OTTHUMG00000019783 ENST00000331828.4: chr9.hg19:g.33629249T>C NA hg19 0.02 4.654944 CAGxATC COVERED NOVEL TRBV21OR9-2-001 KNOWN mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal TR_V_gene NA TR_V_gene OTTHUMT00000052094.2 1 8.720101 KEEP 0 0 0 29 820 TT 0.999997 0.999981 0 + 5 60 190 0 0 12.659876 100 60 3423 153 ENST00000331828.4 0.047619 0.999984 TRBV23OR9-2 28552 __UNKNOWN__ __UNKNOWN__ 9 33638046 33638046 __UNKNOWN__ RNA SNP G G C rs7044689 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:33638046G>C ENST00000390389.3 + 0 14 T cell receptor beta variable 23/OR9-2 (non-functional) NA NA NA CGGGCACCAGGCTTCTCGGCT 0.542 NA G||| 1092 0.218051 0.2315 0.2305 5008 , , NA 16024 0.2937 NA 0.2296 False NA ,,, NA NA NA 2504 0.1012 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA L27615 9p21 2012-02-07 2008-09-11 ENSG00000229063 ENSG00000229063 28552 T cell receptors / TRB orphons 12202 other T cell receptor gene T cell receptor beta variable 23/OR9-2 NA 8384723 Standard NG_001337 NG_001337 NA Approved TRBV23/OR9-2, TRBV23OR92, TCRBV19S2O, TCRBV23S2 OTTHUMG00000019774 ENST00000390389.3: chr9.hg19:g.33638046G>C NA hg19 0.02 22.631718 CAGxCTT COVERED NOVEL TRBV23OR9-2-001 KNOWN mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal TR_V_gene NA TR_V_gene OTTHUMT00000052082.2 1 17.155932 KEEP 0 0 0 57 2051 GG 1 1 0 + 28 60 1061 0 0 73.906963 423 60 15870 663 ENST00000390389.3 0.062084 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 33662389 33662389 __UNKNOWN__ IGR SNP A A G rs1832325 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:33662389A>G NA NA TRBV23OR9-2 (23897 upstream) : PTENP1 (11112 downstream) NA NA NA AAGGAAGCTGAAATCTACCAG 0.463 NA A||| 1006 0.200879 0.2496 0.2277 5008 , , NA 21770 0.2133 NA 0.2237 False NA ,,, NA NA NA 2504 0.0798 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.33662389A>G NA hg19 0.02 20.662036 CTGxAAT COVERED 482 0.2206959706959707 138 0.2804878048780488 75 0.20718232044198895 109 0.19055944055944055 160 0.21108179419525067 A 0.013 -1.610608 0.00835 . . ENSG00000240215 ENST00000438417 . . . 2.79 -5.58 0.02512 . . . . . T 0.00012 0.0000 . . . . . . . . . . . . T 0.26430 -1.0103 4 0.02654 T 1 . 1.4648 0.02403 0.2509:0.1958:0.3891:0.1641 rs1832325;rs41446046;rs61391655;rs1832325 . . . G 22 . ENSP00000403609:E22G E + 2 0 TRBV25OR9-2 33652389 0.000000 0.05858 0.000000 0.03702 0.029000 0.11900 -1.363000 0.02592 -1.094000 0.03054 0.145000 0.16022 GAA NOVEL 0 2 8.123042 KEEP 0 0 0 27 851 AA 0.999988 0.999988 0 15 60 542 0 0 32.418232 467 60 16787 579 0.03112 1 PTENP1 11191 __UNKNOWN__ __UNKNOWN__ 9 33674777 33674777 __UNKNOWN__ RNA SNP T T A rs10814025 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:33674777T>A ENST00000532280.1 - 0 2720 NR_023917.1 phosphatase and tensin homolog pseudogene 1 (functional) NA NA NA AATATGCTTTTAAAAAAATGC 0.398 NA A||| 1416 0.282748 0.4425 0.2767 5008 , , NA 20451 0.2153 NA 0.2932 False NA ,,, NA NA NA 2504 0.1299 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AF023139, BC038293, BY797336 9p13.3 2014-09-11 2014-01-16 ENSG00000237984 ENSG00000237984 11191 - 9589 pseudogene pseudogene 613531 phosphatase and tensin homolog pseudogene 1 NA 9393738, 9620558 Standard NR_023917 NR_023917 NA Approved PTEN2, psiPTEN, PTH2, PTEN-rs, PTENpg1 uc003zth.4 OTTHUMG00000000410 ENST00000532280.1: chr9.hg19:g.33674777T>A NA hg19 0.02 27.361373 TTTxAAA COVERED NOVEL PTENP1-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000395145.1 3 16.297405 KEEP 0 2 59 75 2247 TT 1 1 0 - 22 60 753 1 0 44.245871 649 60 23118 841 ENST00000532280.1 0.032787 1 PTENP1 11191 __UNKNOWN__ __UNKNOWN__ 9 33674789 33674789 __UNKNOWN__ RNA SNP A A C rs10814026 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:33674789A>C ENST00000532280.1 - 0 2708 NR_023917.1 phosphatase and tensin homolog pseudogene 1 (functional) NA NA NA AAAAAATGCGAAAACAACAAG 0.393 NA C||| 1416 0.282748 0.4425 0.2767 5008 , , NA 20167 0.2153 NA 0.2932 False NA ,,, NA NA NA 2504 0.1299 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AF023139, BC038293, BY797336 9p13.3 2014-09-11 2014-01-16 ENSG00000237984 ENSG00000237984 11191 - 9589 pseudogene pseudogene 613531 phosphatase and tensin homolog pseudogene 1 NA 9393738, 9620558 Standard NR_023917 NR_023917 NA Approved PTEN2, psiPTEN, PTH2, PTEN-rs, PTENpg1 uc003zth.4 OTTHUMG00000000410 ENST00000532280.1: chr9.hg19:g.33674789A>C NA hg19 0.02 28.862489 GCGxAAA COVERED NOVEL PTENP1-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000395145.1 2 13.810736 KEEP 0 2 69 70 2207 AA 1 1 0 - 22 42 804 0 0 49.060637 637 60 22854 820 ENST00000532280.1 0.033384 1 PTENP1 11191 __UNKNOWN__ __UNKNOWN__ 9 33675350 33675350 __UNKNOWN__ RNA SNP T T C rs144210425 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:33675350T>C ENST00000532280.1 - 0 2147 NR_023917.1 phosphatase and tensin homolog pseudogene 1 (functional) NA NA NA TCTGACACAATGTCCTATTGC 0.328 NA T||| 63 0.0125799 0.0 0.0 5008 , , NA 19528 0.0585 NA 0.0 False NA ,,, NA NA NA 2504 0.0041 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AF023139, BC038293, BY797336 9p13.3 2014-09-11 2014-01-16 ENSG00000237984 ENSG00000237984 11191 - 9589 pseudogene pseudogene 613531 phosphatase and tensin homolog pseudogene 1 NA 9393738, 9620558 Standard NR_023917 NR_023917 NA Approved PTEN2, psiPTEN, PTH2, PTEN-rs, PTENpg1 uc003zth.4 OTTHUMG00000000410 ENST00000532280.1: chr9.hg19:g.33675350T>C NA hg19 0.02 15.441431 CAAxGTC COVERED NOVEL PTENP1-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000395145.1 2 14.742664 KEEP 0 0 0 49 1491 TT 1 1 0 - 15 60 515 0 0 31.359208 381 60 14059 525 ENST00000532280.1 0.037879 1 PTENP1 11191 __UNKNOWN__ __UNKNOWN__ 9 33675629 33675629 __UNKNOWN__ RNA SNP A A C rs7849845 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:33675629A>C ENST00000532280.1 - 0 1868 NR_023917.1 phosphatase and tensin homolog pseudogene 1 (functional) NA NA NA TTCACCTTAAAATTTGGAGAA 0.383 NA a||| 1415 0.282548 0.4425 0.2767 5008 , , NA 20194 0.2153 NA 0.2913 False NA ,,, NA NA NA 2504 0.1309 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AF023139, BC038293, BY797336 9p13.3 2014-09-11 2014-01-16 ENSG00000237984 ENSG00000237984 11191 - 9589 pseudogene pseudogene 613531 phosphatase and tensin homolog pseudogene 1 NA 9393738, 9620558 Standard NR_023917 NR_023917 NA Approved PTEN2, psiPTEN, PTH2, PTEN-rs, PTENpg1 uc003zth.4 OTTHUMG00000000410 ENST00000532280.1: chr9.hg19:g.33675629A>C NA hg19 0.02 19.477097 TAAxATT COVERED NOVEL PTENP1-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000395145.1 2 15.779309 KEEP 0 1 36 65 2006 AA 1 1 0 - 12 60 446 0 0 26.091662 457 60 16387 629 ENST00000532280.1 0.025586 1 PTENP1 11191 __UNKNOWN__ __UNKNOWN__ 9 33676094 33676094 __UNKNOWN__ RNA SNP C C G rs7853346 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:33676094C>G ENST00000532280.1 - 0 1403 NR_023917.1 phosphatase and tensin homolog pseudogene 1 (functional) NA NA NA CTATAATCCACATGATTCTTT 0.423 NA g||| 1415 0.282548 0.4425 0.2767 5008 , , NA 22017 0.2153 NA 0.2913 False NA ,,, NA NA NA 2504 0.1309 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AF023139, BC038293, BY797336 9p13.3 2014-09-11 2014-01-16 ENSG00000237984 ENSG00000237984 11191 - 9589 pseudogene pseudogene 613531 phosphatase and tensin homolog pseudogene 1 NA 9393738, 9620558 Standard NR_023917 NR_023917 NA Approved PTEN2, psiPTEN, PTH2, PTEN-rs, PTENpg1 uc003zth.4 OTTHUMG00000000410 ENST00000532280.1: chr9.hg19:g.33676094C>G NA hg19 0.02 13.490877 CCAxATG COVERED NOVEL PTENP1-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000395145.1 1 7.824728 KEEP 0 0 0 26 892 CC 0.999957 0.999957 0 - 12 60 459 0 0 28.994321 334 60 12452 388 ENST00000532280.1 0.034682 1 PRSS3 5646 __UNKNOWN__ __UNKNOWN__ 9 33797056 33797056 __UNKNOWN__ Intron SNP A A T rs83921 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:33797056A>T ENST00000379405.3 + 2 239 PRSS3_ENST00000342836.4_Intron|PRSS3_ENST00000429677.3_Intron|RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000361005.5_Intron NM_002771.3 NP_002762 P35030 TRY3_HUMAN protease, serine, 3 NA NA cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|endothelial cell migration (GO:0043542)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|zymogen activation (GO:0031638) extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236) large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 13 LUSC - Lung squamous cell carcinoma(29;0.0176) TTTGCTGGttagctacacatt 0.438 NA A||| 3100 0.61901 0.4758 0.6758 5008 , , NA 22944 0.8214 NA 0.6233 False NA ,,, NA NA NA 2504 0.5593 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS6545.1, CCDS47958.1, CCDS56570.1, CCDS56571.1 9p13 2010-05-07 2008-03-11 ENSG00000010438 ENSG00000010438 5646 3.4.21.4 Serine peptidases / Serine peptidases 9486 protein-coding gene gene with protein product mesotrypsin 613578 protease, serine, 4 (trypsin 4, brain), protease, serine, 3 (mesotrypsin) PRSS4 NA 2326201, 8294000 Standard NM_002771 NM_002771 NA Approved TRY3, TRY4 uc003ztj.4 P35030 OTTHUMG00000019798 ENST00000379405.3:c.200+256A>T chr9.hg19:g.33797056A>T NA A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3 hg19 CCDS6545.1 0.02 2.231554 GTTxGCT COVERED NOVEL PRSS3-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000052122.1 0 3.310176 KEEP 0 0 0 11 347 AA 0.993072 0.960723 0 + 4 60 150 0 0 10.820316 47 60 1753 81 ENST00000379405.3 0.078431 0.967425 PRSS3 5646 __UNKNOWN__ __UNKNOWN__ 9 33799185 33799185 __UNKNOWN__ 3'UTR SNP C C T rs558645886 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:33799185C>T ENST00000379405.3 + 0 790 PRSS3_ENST00000342836.4_3'UTR|PRSS3_ENST00000429677.3_3'UTR|PRSS3_ENST00000495682.1_3'UTR|RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000361005.5_3'UTR NM_002771.3 NP_002762 P35030 TRY3_HUMAN protease, serine, 3 NA NA cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|endothelial cell migration (GO:0043542)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|zymogen activation (GO:0031638) extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236) large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 13 LUSC - Lung squamous cell carcinoma(29;0.0176) CTAAAGCCCCCGGTCCCTCTG 0.542 NA C||| 4 0.000798722 0.0 0.0 5008 , , NA 17741 0.0 NA 0.004 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 92 87 89 NA NA 9 NA 33799185 2203 4300 6503 SO:0001624 3_prime_UTR_variant CCDS6545.1, CCDS47958.1, CCDS56570.1, CCDS56571.1 9p13 2010-05-07 2008-03-11 ENSG00000010438 ENSG00000010438 5646 3.4.21.4 Serine peptidases / Serine peptidases 9486 protein-coding gene gene with protein product mesotrypsin 613578 protease, serine, 4 (trypsin 4, brain), protease, serine, 3 (mesotrypsin) PRSS4 NA 2326201, 8294000 Standard NM_002771 NM_002771 NA Approved TRY3, TRY4 uc003ztj.4 P35030 OTTHUMG00000019798 ENST00000379405.3:c.*7C>T chr9.hg19:g.33799185C>T NA A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3 hg19 CCDS6545.1 0.02 34.499726 CCCxGGT COVERED NOVEL PRSS3-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000052122.1 1 5.729292 KEEP 4 6 197 88 3031 CC 1 1 0 + 30 45 1142 0 0 76.946331 564 60 19808 1072 ENST00000379405.3 0.050505 1 UBAP2 55833 __UNKNOWN__ __UNKNOWN__ 9 33971740 33971740 __UNKNOWN__ Silent SNP A A G rs3739690 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:33971740A>G ENST00000379238.1 - 8 705 c.588T>C c.(586-588)ccT>ccC p.P196P UBAP2_ENST00000539807.1_Intron|UBAP2_ENST00000418786.2_Intron|UBAP2_ENST00000379239.4_Intron|UBAP2_ENST00000449054.1_Silent_p.P196P|UBAP2_ENST00000360802.1_Silent_p.P196P ubiquitin associated protein 2 NA NA endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1) 32 LUSC - Lung squamous cell carcinoma(29;0.00575) GBM - Glioblastoma multiforme(74;0.168) AATAGTCTGCAGGATTAAATG 0.388 NA A||| 1427 0.284944 0.0923 0.2824 5008 , , NA 19743 0.6101 NA 0.2396 False NA ,,, NA NA NA 2504 0.2587 NA NA NA NA 0 A 509,3897 234.9+/-247.6 31,447,1725 86 88 87 588 4.5 1 9 dbSNP_107 87 1860,6740 329.7+/-318.9 212,1436,2652 no coding-synonymous UBAP2 NM_018449.2 243,1883,4377 GG,GA,AA 21.6279,11.5524,18.2147 196/1120 33971740 2369,10637 2203 4300 6503 SO:0001819 synonymous_variant AB040924 CCDS6547.1, CCDS75828.1 9p11.2 2008-02-05 ENSG00000137073 ENSG00000137073 55833 14185 protein-coding gene gene with protein product NA 8871400 Standard NM_018449 NM_018449 NA Approved KIAA1491, bA176F3.5, FLJ22435 uc003ztq.1 Q5T6F2 OTTHUMG00000000427 ENST00000379238.1:c.588T>C chr9.hg19:g.33971740A>G NA hg19 CCDS6547.1 0.02 21.779397 TGCxGGA COVERED NOVEL UBAP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000001071.1 2 17.151176 KEEP 0 0 0 57 1805 AA 1 1 0 - 26 60 919 0 0 59.667106 487 60 18252 640 ENST00000379238.1 0.050682 1 UBAP2 55833 __UNKNOWN__ __UNKNOWN__ 9 34011803 34011803 __UNKNOWN__ Intron SNP C C G rs7029112 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:34011803C>G ENST00000379238.1 - 2 217 UBAP2_ENST00000539807.1_Intron|UBAP2_ENST00000418786.2_Intron|UBAP2_ENST00000480885.1_Intron|UBAP2_ENST00000379239.4_Intron|UBAP2_ENST00000449054.1_Intron|UBAP2_ENST00000360802.1_Intron ubiquitin associated protein 2 NA NA endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1) 32 LUSC - Lung squamous cell carcinoma(29;0.00575) GBM - Glioblastoma multiforme(74;0.168) AAGAAAAGTACCATCACTACA 0.378 NA G||| 3905 0.779752 0.7489 0.8242 5008 , , NA 17405 0.8363 NA 0.8429 False NA ,,, NA NA NA 2504 0.6667 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB040924 CCDS6547.1, CCDS75828.1 9p11.2 2008-02-05 ENSG00000137073 ENSG00000137073 55833 14185 protein-coding gene gene with protein product NA 8871400 Standard NM_018449 NM_018449 NA Approved KIAA1491, bA176F3.5, FLJ22435 uc003ztq.1 Q5T6F2 OTTHUMG00000000427 ENST00000379238.1:c.99+5244G>C chr9.hg19:g.34011803C>G NA hg19 CCDS6547.1 0.02 1.9717 GTAxCAT COVERED NOVEL UBAP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000001071.1 0 5.718505 KEEP 0 0 0 19 656 CC 0.99986 0.999754 0 - 9 60 333 0 0 24.755219 84 60 3024 117 ENST00000379238.1 0.096774 0.999895 UBAP2 55833 __UNKNOWN__ __UNKNOWN__ 9 34017106 34017106 __UNKNOWN__ Missense_Mutation SNP C C T rs1785506 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:34017106C>T ENST00000379238.1 - 2 158 c.41G>A c.(40-42)cGg>cAg p.R14Q UBAP2_ENST00000539807.1_5'UTR|UBAP2_ENST00000418786.2_Missense_Mutation_p.R14Q|UBAP2_ENST00000480885.1_5'UTR|UBAP2_ENST00000379239.4_Intron|UBAP2_ENST00000449054.1_Missense_Mutation_p.R14Q|UBAP2_ENST00000360802.1_Missense_Mutation_p.R14Q ubiquitin associated protein 2 NA NA endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1) 32 LUSC - Lung squamous cell carcinoma(29;0.00575) GBM - Glioblastoma multiforme(74;0.168) TGGTTTTTCCCGAGCACCTCG 0.358 NA C||| 3150 0.628994 0.4909 0.732 5008 , , NA 16265 0.8274 NA 0.6163 False NA ,,, NA NA NA 2504 0.5511 NA NA NA NA 0 C GLN/ARG 2347,2059 607.4+/-390.9 621,1105,477 138 117 124 41 5.8 1 9 dbSNP_89 124 5309,3291 646.5+/-400.3 1657,1995,648 yes missense UBAP2 NM_018449.2 43 2278,3100,1125 TT,TC,CC 38.2674,46.7317,41.1349 possibly-damaging 14/1120 34017106 7656,5350 2203 4300 6503 SO:0001583 missense AB040924 CCDS6547.1, CCDS75828.1 9p11.2 2008-02-05 ENSG00000137073 ENSG00000137073 55833 14185 protein-coding gene gene with protein product NA 8871400 Standard NM_018449 NM_018449 NA Approved KIAA1491, bA176F3.5, FLJ22435 uc003ztq.1 Q5T6F2 OTTHUMG00000000427 ENST00000379238.1:c.41G>A chr9.hg19:g.34017106C>T ENSP00000368540:p.Arg14Gln NA hg19 CCDS6547.1 0.02 23.899814 TCCxGAG COVERED 1406 0.6437728937728938 244 0.4959349593495935 256 0.7071823204419889 458 0.8006993006993007 448 0.5910290237467019 C 17.06 3.292071 0.59976 0.532683 0.617326 ENSG00000137073 ENST00000379238;ENST00000449054;ENST00000360802;ENST00000351580;ENST00000418786;ENST00000412543 T;T;T;T;T 0.30981 1.51;1.51;1.51;1.51;1.51 5.82 5.82 0.92795 . 0.000000 0.85682 D 0.000000 T 0.00012 0.0000 L 0.60455 1.87 0.09310 P 0.999999816373 D;P 0.76494 0.999;0.902 P;B 0.61477 0.889;0.195 T 0.11155 -1.0599 9 0.25751 T 0.34 -9.2197 20.1001 0.97870 0.0:1.0:0.0:0.0 rs1785506;rs3780506;rs52815908;rs61421888;rs1785506 14;14 E7EWG4;Q5T6F2 .;UBAP2_HUMAN Q 14 ENSP00000368540:R14Q;ENSP00000416932:R14Q;ENSP00000354039:R14Q;ENSP00000404436:R14Q;ENSP00000414800:R14Q ENSP00000259602:R14Q R - 2 0 UBAP2 34007106 1.000000 0.71417 1.000000 0.80357 0.713000 0.41058 6.341000 0.72977 2.760000 0.94817 0.655000 0.94253 CGG NOVEL UBAP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000001071.1 2 41.195324 KEEP 0 0 0 137 4617 CC 1 1 0 - 26 60 1007 0 0 68.000082 507 70 18329 930 ENST00000379238.1 0.04878 1 DCAF12 25853 __UNKNOWN__ __UNKNOWN__ 9 34093274 34093274 __UNKNOWN__ Intron SNP G G C rs16935392 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:34093274G>C ENST00000361264.4 - 7 1366 RP11-537H15.3_ENST00000448245.1_RNA NM_015397.3 NP_056212.1 Q5T6F0 DCA12_HUMAN DDB1 and CUL4 associated factor 12 NA NA protein ubiquitination (GO:0016567) centrosome (GO:0005813)|Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737) breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1) 11 GTGCACACAGGGACTCTTACC 0.507 NA G||| 1061 0.211861 0.1641 0.2723 5008 , , NA 21076 0.2133 NA 0.2147 False NA ,,, NA NA NA 2504 0.229 NA NA NA NA 0 G 785,3621 316.1+/-294.4 75,635,1493 129 111 117 1.9 0.7 9 dbSNP_123 117 2013,6587 352.5+/-328.7 245,1523,2532 no intron DCAF12 NM_015397.3 320,2158,4025 CC,CG,GG 23.407,17.8166,21.5131 34093274 2798,10208 2203 4300 6503 SO:0001627 intron_variant AB067479 CCDS6549.1 9p11.2 2013-01-09 2009-07-17 2009-07-17 ENSG00000198876 ENSG00000198876 25853 WD repeat domain containing, DDB1 and CUL4 associated factors 19911 protein-coding gene gene with protein product cancer/testis antigen 102 KIAA1892, WD repeat domain 40A KIAA1892, WDR40A NA 11572484, 9110174 Standard NM_015397 NM_015397 NA Approved DKFZP434O125, MGC1058, CT102, TCC52 uc003ztt.2 Q5T6F0 OTTHUMG00000019806 ENST00000361264.4:c.1024+9C>G chr9.hg19:g.34093274G>C NA A8KA70|D3DRL6|Q5T6E9|Q5T6F1|Q6P3V0|Q7L4F8|Q96PZ5|Q9NXA9|Q9UFJ1 hg19 CCDS6549.1 0.02 2.311829 CAGxGAC COVERED NOVEL DCAF12-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000052133.2 0 5.115959 KEEP 0 0 0 17 563 GG 0.999366 0.998235 0 - 6 60 226 0 0 16.312985 71 60 2534 96 ENST00000361264.4 0.077922 0.998867 UBAP1 51271 __UNKNOWN__ __UNKNOWN__ 9 34242242 34242242 __UNKNOWN__ Intron SNP G G A rs7857658 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:34242242G>A ENST00000297661.4 + 4 1318 UBAP1_ENST00000379186.4_Intron|UBAP1_ENST00000545103.1_Intron|UBAP1_ENST00000536252.1_Intron|UBAP1_ENST00000359544.2_Intron|UBAP1_ENST00000543944.1_Intron|UBAP1_ENST00000540348.1_Intron NM_016525.4 NP_057609.2 Q9NZ09 UBAP1_HUMAN ubiquitin associated protein 1 NA NA protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162) cytoplasm (GO:0005737)|cytosol (GO:0005829)|ESCRT I complex (GO:0000813) ubiquitin binding (GO:0043130) endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1) 13 LUSC - Lung squamous cell carcinoma(29;0.00272) tggtgtgatcgtaccttattg 0.453 NA G||| 2175 0.434305 0.2474 0.3991 5008 , , NA 20261 0.7351 NA 0.3082 False NA ,,, NA NA NA 2504 0.5317 NA NA NA NSCLC(109;1074 1634 14978 20375 39620) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF222043 CCDS6550.1 9p13.3 2008-05-15 2002-08-27 2002-08-30 ENSG00000165006 ENSG00000165006 51271 12461 protein-coding gene gene with protein product 609787 ubiquitin associated protein UBAP NA Standard NM_001171201 NA Approved uc011loj.2 Q9NZ09 OTTHUMG00000000430 ENST00000297661.4:c.1083+136G>A chr9.hg19:g.34242242G>A NA B7Z348|B7Z8N9|D3DRL7|F5GXE2|F5H0J8|Q4V759|Q53FP7|Q5T7B3|Q6FI75|Q8NC52|Q8NCG6|Q8NCH9 hg19 CCDS6550.1 0.02 1.890312 ATCxTAC COVERED NOVEL UBAP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000001084.1 2 3.912444 KEEP 0 0 0 13 436 GG 0.994391 0.994253 0 + 4 60 145 0 0 9.287247 87 60 3056 106 ENST00000297661.4 0.043956 0.999862 KIF24 347240 __UNKNOWN__ __UNKNOWN__ 9 34256347 34256347 __UNKNOWN__ Silent SNP C C T rs10814083 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:34256347C>T ENST00000402558.2 - 10 3282 c.3258G>A c.(3256-3258)ggG>ggA p.G1086G KIF24_ENST00000379174.3_Silent_p.G952G|KIF24_ENST00000345050.2_Silent_p.G952G|KIF24_ENST00000379166.2_Silent_p.G1086G Q5T7B8 KIF24_HUMAN kinesin family member 24 1086 NA ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018) centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777) breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 32 LUSC - Lung squamous cell carcinoma(29;0.0107) CAACTGGGCCCCCTGTGCTCT 0.607 NA C||| 2204 0.440096 0.2685 0.4006 5008 , , NA 20026 0.7351 NA 0.3082 False NA ,,, NA NA NA 2504 0.5317 NA NA NA NA 0 C 1226,3180 423.0+/-339.9 158,910,1135 44 37 39 3258 0.4 0 9 dbSNP_120 39 2936,5664 452.7+/-363.0 499,1938,1863 no coding-synonymous KIF24 NM_194313.2 657,2848,2998 TT,TC,CC 34.1395,27.8257,32.0006 1086/1369 34256347 4162,8844 2203 4300 6503 SO:0001819 synonymous_variant AK001795 CCDS6551.2 9p13.3 2013-01-10 ENSG00000186638 ENSG00000186638 347240 Kinesins, Sterile alpha motif (SAM) domain containing 19916 protein-coding gene gene with protein product 613747 chromosome 9 open reading frame 48 C9orf48 NA 12477932 Standard NM_194313 NA Approved bA571F15.4, FLJ10933, FLJ43884 uc003zua.4 Q5T7B8 OTTHUMG00000019810 ENST00000402558.2:c.3258G>A chr9.hg19:g.34256347C>T NA Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43 hg19 CCDS6551.2 0.02 8.340426 GCCxCCT COVERED 924 0.4230769230769231 142 0.2886178861788618 139 0.3839779005524862 397 0.6940559440559441 246 0.3245382585751979 C 2.713 -0.268302 0.05716 0.278257 0.341395 ENSG00000186638 ENST00000443226 . . . 4.81 0.37 0.16160 . 0.988720 0.08220 N 0.979213 T 0.00012 0.0000 . . . 0.58432 P 1.0000000000287557E-6 . . . . . . T 0.40942 -0.9536 5 0.36615 T 0.2 . 6.452 0.21908 0.1277:0.6217:0.0:0.2506 rs10814083;rs58917175;rs10814083 . . . R 132 . ENSP00000414628:G132R G - 1 0 KIF24 34246347 0.000000 0.05858 0.000000 0.03702 0.002000 0.02628 -0.091000 0.11146 -0.012000 0.14223 -1.119000 0.02030 GGG NOVEL KIF24-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000052150.5 1 14.747409 KEEP 0 0 0 49 1697 CC 1 1 0 - 10 60 366 0 0 23.312953 231 60 8156 330 ENST00000402558.2 0.041494 1 KIAA1161 57462 __UNKNOWN__ __UNKNOWN__ 9 34368674 34368674 __UNKNOWN__ 3'UTR SNP A A G rs7861760 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:34368674A>G ENST00000297625.7 - 0 4391 NM_020702.3 NP_065753.2 Q6NSJ0 K1161_HUMAN KIAA1161 NA NA carbohydrate metabolic process (GO:0005975)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|skeletal muscle fiber development (GO:0048741) integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965) hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1) 12 LUSC - Lung squamous cell carcinoma(29;0.0107) GBM - Glioblastoma multiforme(74;0.126) tcatgtcccaatcattatcag 0.418 NA A||| 1644 0.328275 0.2958 0.2968 5008 , , NA 20337 0.627 NA 0.1431 False NA ,,, NA NA NA 2504 0.2771 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB032987 9p11.2 2009-11-06 ENSG00000164976 ENSG00000164976 57462 19918 protein-coding gene gene with protein product NA 10574461 Standard XM_351807 XM_006716808 NA Approved NET37 uc003zue.4 Q6NSJ0 OTTHUMG00000019816 ENST00000297625.7:c.*2123T>C chr9.hg19:g.34368674A>G NA Q5T587|Q5T588|Q9ULQ9 hg19 0.02 7.46921 CCAxTCA COVERED NOVEL KIAA1161-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000052158.1 11 7.821027 KEEP 0 3 115 66 2129 AA 1 1 0 - 12 60 467 0 0 32.908334 181 60 6647 336 ENST00000297625.7 0.062176 1 KIAA1161 57462 __UNKNOWN__ __UNKNOWN__ 9 34370018 34370018 __UNKNOWN__ 3'UTR SNP T T A rs187819553 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:34370018T>A ENST00000297625.7 - 0 3047 NM_020702.3 NP_065753.2 Q6NSJ0 K1161_HUMAN KIAA1161 NA NA carbohydrate metabolic process (GO:0005975)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|skeletal muscle fiber development (GO:0048741) integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965) hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1) 12 LUSC - Lung squamous cell carcinoma(29;0.0107) GBM - Glioblastoma multiforme(74;0.126) tctctctctctctcACACACA 0.537 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB032987 9p11.2 2009-11-06 ENSG00000164976 ENSG00000164976 57462 19918 protein-coding gene gene with protein product NA 10574461 Standard XM_351807 XM_006716808 NA Approved NET37 uc003zue.4 Q6NSJ0 OTTHUMG00000019816 ENST00000297625.7:c.*779A>T chr9.hg19:g.34370018T>A NA Q5T587|Q5T588|Q9ULQ9 hg19 0.02 1.763484 CTCxCTC COVERED NOVEL KIAA1161-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000052158.1 1 6.017882 KEEP 0 0 0 20 614 TT 0.999863 0.99977 0 - 4 60 141 0 0 8.828901 90 60 3210 121 ENST00000297625.7 0.042553 0.999907 KIAA1161 57462 __UNKNOWN__ __UNKNOWN__ 9 34371788 34371788 __UNKNOWN__ Missense_Mutation SNP A A T rs7852399 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:34371788A>T ENST00000297625.7 - 2 1277 c.1052T>A c.(1051-1053)tTc>tAc p.F351Y NM_020702.3 NP_065753.2 Q6NSJ0 K1161_HUMAN KIAA1161 385 NA carbohydrate metabolic process (GO:0005975)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|skeletal muscle fiber development (GO:0048741) integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965) hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1) 12 LUSC - Lung squamous cell carcinoma(29;0.0107) GBM - Glioblastoma multiforme(74;0.126) CGTGACGCGGAAGCCGGCGTC 0.632 NA A||| 1631 0.325679 0.3116 0.2997 5008 , , NA 19513 0.5893 NA 0.1431 False NA ,,, NA NA NA 2504 0.2791 NA NA NA NA 0 A TYR/PHE 1276,2980 192,892,1044 59 63 62 1154 5.4 1 9 dbSNP_116 62 1291,7147 93,1105,3021 yes missense KIAA1161 NM_020702.3 22 285,1997,4065 TT,TA,AA 15.2998,29.9812,20.2222 probably-damaging 385/715 34371788 2567,10127 2128 4219 6347 SO:0001583 missense AB032987 9p11.2 2009-11-06 ENSG00000164976 ENSG00000164976 57462 19918 protein-coding gene gene with protein product NA 10574461 Standard XM_351807 XM_006716808 NA Approved NET37 uc003zue.4 Q6NSJ0 OTTHUMG00000019816 ENST00000297625.7:c.1052T>A chr9.hg19:g.34371788A>T ENSP00000297625:p.Phe351Tyr NA Q5T587|Q5T588|Q9ULQ9 hg19 0.02 15.757821 CGGxAGC COVERED 703 0.3218864468864469 153 0.31097560975609756 94 0.2596685082872928 335 0.5856643356643356 121 0.15963060686015831 A 17.76 3.469925 0.63625 0.299812 0.152998 ENSG00000164976 ENST00000297625 T 0.49720 0.77 5.36 5.36 0.76844 Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1); 0.000000 0.85682 D 0.000000 T 0.00012 0.0000 M 0.83312 2.635 0.20764 P 0.99985684 D 0.71674 0.998 D 0.67900 0.954 T 0.51834 -0.8655 9 0.87932 D 0 -17.2487 14.1862 0.65607 1.0:0.0:0.0:0.0 rs7852399;rs7852399 385 Q6NSJ0 K1161_HUMAN Y 351 ENSP00000297625:F351Y ENSP00000297625:F351Y F - 2 0 KIAA1161 34361788 1.000000 0.71417 1.000000 0.80357 0.346000 0.29079 9.281000 0.95811 2.028000 0.59812 0.379000 0.24179 TTC NOVEL KIAA1161-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000052158.1 3 34.028252 KEEP 0 1 28 123 3748 AA 1 1 0 - 18 60 613 0 0 37.720243 399 60 13737 641 ENST00000297625.7 0.043165 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 34378999 34378999 __UNKNOWN__ IGR SNP A A T rs3818830 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:34378999A>T NA NA KIAA1161 (2148 upstream) : C9orf24 (17 downstream) NA NA NA CTGCTGGGTAAGGACACAGGA 0.532 NA OREG0019150 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) A||| 1152 0.230032 0.2277 0.2392 5008 , , NA 20681 0.3472 NA 0.1362 False NA ,,, NA NA NA 2504 0.2025 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.34378999A>T 847 hg19 0.02 12.826582 GTAxGGA COVERED NOVEL 0 0 25.876923 KEEP 0 0 0 86 2714 AA 1 1 0 9 60 332 0 0 19.844431 299 60 10856 462 0.029221 1 FAM205B 389715 __UNKNOWN__ __UNKNOWN__ 9 34834937 34834937 __UNKNOWN__ RNA SNP A A G rs202203144 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:34834937A>G ENST00000455647.2 - 0 1456 Q63HN1 F205B_HUMAN family with sequence similarity 205, member B NA NA p.L184L(2) NA CAATCTTGGGAAGGCCTTGAG 0.517 NA G||| 2480 0.495208 0.5461 0.3559 5008 , , NA 11564 0.5952 NA 0.327 False NA ,,, NA NA NA 2504 0.5951 NA NA NA NA 2 Substitution - coding silent(2) endometrium(2) NA NA NA NA NA NA NA NA NA NA 9p13.3 2013-05-22 2011-08-15 2011-08-15 ENSG00000257198 ENSG00000257198 389715 24504 other unknown chromosome 9 open reading frame 144 C9orf144 NA Standard NR_024481 NR_024481 NA Approved DKFZp434J193, C9orf144A uc003zvp.4 Q63HN1 OTTHUMG00000019839 ENST00000455647.2: chr9.hg19:g.34834937A>G NA Q6ZRJ7 hg19 0.02 12.21525 GGGxAGG COVERED NOVEL FAM205B-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000052246.5 3 3.643792 KEEP 34 1 31 23 704 AA 0.999879 0.999879 0 - 81 40 2967 0 0 259.658775 217 60 7639 407 ENST00000455647.2 0.271812 1 DNAJB5 25822 __UNKNOWN__ __UNKNOWN__ 9 34998003 34998003 __UNKNOWN__ 3'UTR SNP G G A rs9608 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:34998003G>A ENST00000541010.1 + 0 4806 DNAJB5_ENST00000454002.2_3'UTR|DNAJB5_ENST00000545841.1_3'UTR|DNAJB5_ENST00000335998.3_3'UTR|DNAJB5_ENST00000453597.3_3'UTR|DNAJB5_ENST00000312316.5_3'UTR O75953 DNJB5_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 5 NA NA negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)|response to unfolded protein (GO:0006986) cytosol (GO:0005829)|nucleus (GO:0005634) chaperone binding (GO:0051087) kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 12 LUSC - Lung squamous cell carcinoma(32;0.00575) AAGGCTAAGAGGTGGGGGACA 0.582 NA G||| 1392 0.277955 0.1929 0.1585 5008 , , NA 18637 0.5347 NA 0.2326 False NA ,,, NA NA NA 2504 0.2597 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF088982 CCDS35007.1, CCDS47959.1, CCDS47960.1, CCDS47960.2 9p 2011-09-02 ENSG00000137094 ENSG00000137094 25822 Heat shock proteins / DNAJ (HSP40) 14887 protein-coding gene gene with protein product 611328 NA 10570961, 11147971 Standard NM_001135004 NA Approved Hsc40 uc003zvs.4 O75953 OTTHUMG00000019840 ENST00000541010.1:c.*747G>A chr9.hg19:g.34998003G>A NA B3KN14|B4DSA6|J3KQM9|J3KR08|Q5T656|Q8TDR7|Q96EM4 hg19 CCDS35007.1 0.02 4.266839 AGAxGTG COVERED NOVEL DNAJB5-008 KNOWN alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000401397.1 0 3.744725 KEEP 0 1 30 23 803 GG 0.999909 0.999907 0 + 10 60 355 0 0 25.522692 105 60 3907 159 ENST00000541010.1 0.086957 0.999997 CA9 768 __UNKNOWN__ __UNKNOWN__ 9 35673891 35673891 __UNKNOWN__ 5'UTR SNP G G A rs2071675 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:35673891G>A ENST00000378357.4 + 0 39 NM_001216.2 NP_001207.2 Q16790 CAH9_HUMAN carbonic anhydrase IX NA NA bicarbonate transport (GO:0015701)|cellular response to hypoxia (GO:0071456)|morphogenesis of an epithelium (GO:0002009)|one-carbon metabolic process (GO:0006730)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to drug (GO:0042493)|response to testosterone (GO:0033574)|secretion (GO:0046903)|small molecule metabolic process (GO:0044281) basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886) carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270) kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1) 17 all_epithelial(49;0.217) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) Benzthiazide(DB00562)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Zonisamide(DB00909) CCCCCACCCAGCTCTCGTTTC 0.632 NA G||| 599 0.119609 0.0567 0.1499 5008 , , NA 19517 0.1974 NA 0.0646 False NA ,,, NA NA NA 2504 0.1595 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant X66839 CCDS6585.1 9p13.3 2012-08-21 ENSG00000107159 ENSG00000107159 768 Carbonic anhydrases 1383 protein-coding gene gene with protein product carbonic dehydratase, RCC-associated protein G250 603179 NA 8661007, 9787087 Standard NM_001216 NM_001216 NA Approved MN, CAIX uc003zxo.4 Q16790 OTTHUMG00000021029 ENST00000378357.4:c.-66G>A chr9.hg19:g.35673891G>A NA Q5T4R1 hg19 CCDS6585.1 0.02 16.039376 CCAxCTC COVERED NOVEL CA9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055479.1 3 34.912143 KEEP 0 0 0 116 4234 GG 1 1 0 + 16 60 560 0 0 33.792339 425 60 16115 711 ENST00000378357.4 0.036281 1 TPM2 7169 __UNKNOWN__ __UNKNOWN__ 9 35682702 35682702 __UNKNOWN__ Intron SNP C C T rs192914007 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:35682702C>T ENST00000378292.3 - 9 1975 TPM2_ENST00000329305.2_Intron|TPM2_ENST00000378300.5_3'UTR NM_213674.1 NP_998839.1 P07951 TPM2_HUMAN tropomyosin 2 (beta) NA NA muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462) cytosol (GO:0005829)|muscle thin filament tropomyosin (GO:0005862) actin binding (GO:0003779)|structural constituent of muscle (GO:0008307) NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_epithelial(49;0.121) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GCACCAGAGGCGGTCATGGTT 0.592 NA c||| 4 0.000798722 0.0 0.0 5008 , , NA 18893 0.004 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS6586.1, CCDS6587.1 9p13 2014-09-17 2003-12-02 ENSG00000198467 ENSG00000198467 7169 Tropomyosins 12011 protein-coding gene gene with protein product nemaline myopathy type 4 190990 arthrogryposis multiplex congenital, distal, type 1 AMCD1 NA 7606936 Standard NM_003289 NM_003289 NA Approved DA1, NEM4 uc003zxq.3 P07951 OTTHUMG00000019878 ENST00000378292.3:c.773-542G>A chr9.hg19:g.35682702C>T NA A6NM85|P06468|Q13894|Q53FM4|Q5TCU4|Q5TCU7|Q9UH67 hg19 CCDS6586.1 0.02 4.811078 AGGxGGT COVERED NOVEL TPM2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000052375.1 1 8.124909 KEEP 0 0 0 27 887 CC 0.999988 0.99998 0 - 6 60 210 0 0 13.794595 104 60 3527 145 ENST00000378292.3 0.054545 0.999993 TPM2 7169 __UNKNOWN__ __UNKNOWN__ 9 35690606 35690606 __UNKNOWN__ 5'UTR SNP C C T rs181933650 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:35690606C>T ENST00000378292.3 - 0 411 NM_213674.1 NP_998839.1 P07951 TPM2_HUMAN tropomyosin 2 (beta) NA NA muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462) cytosol (GO:0005829)|muscle thin filament tropomyosin (GO:0005862) actin binding (GO:0003779)|structural constituent of muscle (GO:0008307) NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_epithelial(49;0.121) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) CCCCTCCCAGCCCCTGCCCCT 0.746 NA C||| 40 0.00798722 0.0 0.0432 5008 , , NA 7598 0.0099 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant CCDS6586.1, CCDS6587.1 9p13 2014-09-17 2003-12-02 ENSG00000198467 ENSG00000198467 7169 Tropomyosins 12011 protein-coding gene gene with protein product nemaline myopathy type 4 190990 arthrogryposis multiplex congenital, distal, type 1 AMCD1 NA 7606936 Standard NM_003289 NM_003289 NA Approved DA1, NEM4 uc003zxq.3 P07951 OTTHUMG00000019878 ENST00000378292.3:c.-792G>A chr9.hg19:g.35690606C>T NA A6NM85|P06468|Q13894|Q53FM4|Q5TCU4|Q5TCU7|Q9UH67 hg19 CCDS6586.1 0.02 3.733347 CAGxCCC COVERED NOVEL TPM2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000052375.1 1 39.122778 KEEP 0 0 0 130 4428 CC 1 0.999998 0 - 6 60 202 0 0 12.749364 113 60 4010 287 ENST00000378292.3 0.05042 0.999998 TLN1 7094 __UNKNOWN__ __UNKNOWN__ 9 35704150 35704150 __UNKNOWN__ Silent SNP C C T rs10814270 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:35704150C>T ENST00000314888.9 - 46 6422 c.6069G>A c.(6067-6069)gcG>gcA p.A2023A TLN1_ENST00000540444.1_Silent_p.A1917A|TLN1_ENST00000464379.1_5'UTR NM_006289.3 NP_006280.3 Q9Y490 TLN1_HUMAN talin 1 2023 NA activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576) actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726) integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166) NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6) 85 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) CCAGCACCTTCGCAGTCTTCA 0.642 NA C||| 586 0.117013 0.003 0.0202 5008 , , NA 20048 0.374 NA 0.0686 False NA ,,, NA NA NA 2504 0.1247 NA NA NA NA 0 C 50,4356 48.2+/-83.0 1,48,2154 52 51 51 6069 -8.2 0.9 9 dbSNP_120 51 492,8108 139.2+/-195.9 17,458,3825 no coding-synonymous TLN1 NM_006289.3 18,506,5979 TT,TC,CC 5.7209,1.1348,4.1673 2023/2542 35704150 542,12464 2203 4300 6503 SO:0001819 synonymous_variant AB028950 CCDS35009.1 9p23-p21 2008-02-05 ENSG00000137076 ENSG00000137076 7094 11845 protein-coding gene gene with protein product 186745 TLN NA 7635475, 10610730 Standard NM_006289 NM_006289 NA Approved ILWEQ uc003zxt.2 Q9Y490 OTTHUMG00000019874 ENST00000314888.9:c.6069G>A chr9.hg19:g.35704150C>T NA A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3 hg19 CCDS35009.1 0.02 6.044908 CTTxGCA COVERED NOVEL TLN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000052353.2 6 16.850184 KEEP 0 0 0 56 1855 CC 1 1 0 - 8 60 290 0 0 18.308909 188 60 6375 293 ENST00000314888.9 0.040816 1 RGP1 9827 __UNKNOWN__ __UNKNOWN__ 9 35749845 35749845 __UNKNOWN__ Silent SNP G G C rs2236288 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:35749845G>C ENST00000378078.4 + 2 234 c.93G>C c.(91-93)ccG>ccC p.P31P GBA2_ENST00000545786.1_5'UTR|RGP1_ENST00000456972.2_Silent_p.P71P NM_001080496.2 NP_001073965.2 RGP1 retrograde golgi transport homolog (S. cerevisiae) NA NA cervix(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 14 all_epithelial(49;0.167) Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) ACCCCCTTCCGCCCACGGCCA 0.602 NA C||| 1579 0.315296 0.4811 0.232 5008 , , NA 17770 0.4018 NA 0.2127 False NA ,,, NA NA NA 2504 0.1667 NA NA NA NA 0 C 1713,2251 386,941,655 51 55 54 93 0.4 0.7 9 dbSNP_98 54 1743,6575 184,1375,2600 no coding-synonymous RGP1 NM_001080496.2 570,2316,3255 CC,CG,GG 20.9546,43.2139,28.1387 31/392 35749845 3456,8826 1982 4159 6141 SO:0001819 synonymous_variant D87447 CCDS47964.1, CCDS47964.2 9p13.3 2013-09-19 2007-10-18 2007-10-18 ENSG00000107185 ENSG00000107185 9827 21965 protein-coding gene gene with protein product 615742 KIAA0258 KIAA0258 NA 9039502 Standard NM_014785 NM_001080496 NA Approved uc011lpf.2 Q92546 OTTHUMG00000019873 ENST00000378078.4:c.93G>C chr9.hg19:g.35749845G>C NA hg19 CCDS47964.2 0.02 4.793519 TCCxCCC COVERED NOVEL RGP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000052351.2 2 17.600973 KEEP 0 1 38 72 2462 GG 1 0.999995 0 + 5 60 193 0 0 12.817074 107 60 3897 224 ENST00000378078.4 0.044643 0.999995 MSMP 692094 __UNKNOWN__ __UNKNOWN__ 9 35753898 35753898 __UNKNOWN__ Intron SNP G G A rs34478611 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:35753898G>A ENST00000414286.1 - 2 117 MSMP_ENST00000436428.2_Intron|RGP1_ENST00000378078.4_3'UTR Q1L6U9 MSMP_HUMAN microseminoprotein, prostate associated NA NA cytoplasm (GO:0005737)|extracellular space (GO:0005615) endometrium(2)|kidney(1)|lung(3)|prostate(3) 9 CACAGCTGGAGGAAGCCTGGG 0.532 NA G||| 1026 0.204872 0.0711 0.2176 5008 , , NA 22621 0.4028 NA 0.2227 False NA ,,, NA NA NA 2504 0.1544 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant DQ012170 CCDS43797.1 9p13.3 2012-10-02 ENSG00000215183 ENSG00000215183 692094 29663 protein-coding gene gene with protein product 612191 NA 17338636 Standard NM_001044264 NM_001044264 NA Approved PC-3, PSMP uc003zyb.2 Q1L6U9 OTTHUMG00000019882 ENST00000414286.1:c.399-133C>T chr9.hg19:g.35753898G>A NA hg19 0.02 26.209882 GGAxGAA COVERED NOVEL MSMP-002 PUTATIVE basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000052385.2 1 25.687712 KEEP 0 3 90 117 4162 GG 1 1 0 - 20 60 683 0 0 38.696863 680 60 25292 939 ENST00000414286.1 0.028571 1 TMEM8B 51754 __UNKNOWN__ __UNKNOWN__ 9 35834942 35834942 __UNKNOWN__ Intron SNP T T G rs2236291 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:35834942T>G ENST00000377991.4 + 4 357 TMEM8B_ENST00000377996.1_Intron|TMEM8B_ENST00000377988.2_Intron|TMEM8B_ENST00000439587.2_Intron|TMEM8B_ENST00000473947.1_Intron NM_001042589.2 NP_001036054.1 A6NDV4 TMM8B_HUMAN transmembrane protein 8B NA NA cell-matrix adhesion (GO:0007160)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle (GO:0007346) cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886) breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1) 7 CTTTTCTTTCTTTCTTTCATT 0.488 NA T||| 1676 0.334665 0.1755 0.3977 5008 , , NA 20349 0.378 NA 0.4105 False NA ,,, NA NA NA 2504 0.3824 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC043384 CCDS6595.1, CCDS43800.1 9p13.3 2009-06-12 2009-06-12 2009-06-12 ENSG00000137103 ENSG00000137103 51754 21427 protein-coding gene gene with protein product nasopharyngeal carcinoma expressed 6 chromosome 9 open reading frame 127 C9orf127 NA 12918109, 8619474 Standard NM_016446 NM_016446 NA Approved NAG-5, NGX6 uc003zym.4 A6NDV4 OTTHUMG00000019885 ENST00000377991.4:c.-658-66T>G chr9.hg19:g.35834942T>G NA B3KQF3|O75539|Q49AB1|Q4KMX5|Q5TCW5|Q9HBY2|Q9P0U7 hg19 CCDS43800.1 0.02 5.058015 TTCxTTC COVERED NOVEL TMEM8B-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000052388.2 0 13.239298 KEEP 0 0 0 44 1353 TT 1 1 0 + 15 60 481 0 0 32.342601 179 60 6628 269 ENST00000377991.4 0.07732 1 TMEM8B 51754 __UNKNOWN__ __UNKNOWN__ 9 35841783 35841783 __UNKNOWN__ 5'UTR SNP G G A rs2236293 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:35841783G>A ENST00000377991.4 + 0 960 TMEM8B_ENST00000377996.1_5'UTR|TMEM8B_ENST00000377988.2_5'UTR|TMEM8B_ENST00000439587.2_5'UTR|TMEM8B_ENST00000473947.1_Intron NM_001042589.2 NP_001036054.1 A6NDV4 TMM8B_HUMAN transmembrane protein 8B NA NA cell-matrix adhesion (GO:0007160)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle (GO:0007346) cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886) breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1) 7 CTGTGTGTGCGGTTGCAAGGT 0.607 NA G||| 1673 0.334065 0.174 0.3963 5008 , , NA 14611 0.375 NA 0.4076 False NA ,,, NA NA NA 2504 0.3885 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant BC043384 CCDS6595.1, CCDS43800.1 9p13.3 2009-06-12 2009-06-12 2009-06-12 ENSG00000137103 ENSG00000137103 51754 21427 protein-coding gene gene with protein product nasopharyngeal carcinoma expressed 6 chromosome 9 open reading frame 127 C9orf127 NA 12918109, 8619474 Standard NM_016446 NM_016446 NA Approved NAG-5, NGX6 uc003zym.4 A6NDV4 OTTHUMG00000019885 ENST00000377991.4:c.-56G>A chr9.hg19:g.35841783G>A NA B3KQF3|O75539|Q49AB1|Q4KMX5|Q5TCW5|Q9HBY2|Q9P0U7 hg19 CCDS43800.1 0.02 9.021487 TGCxGTT COVERED NOVEL TMEM8B-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000052388.2 0 24.076963 KEEP 0 0 0 80 2759 GG 1 1 0 + 14 60 515 0 0 35.558217 206 60 7183 385 ENST00000377991.4 0.063636 1 GLIPR2 152007 __UNKNOWN__ __UNKNOWN__ 9 36163002 36163002 __UNKNOWN__ 3'UTR SNP C C T rs11588 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:36163002C>T ENST00000377960.4 + 0 982 GLIPR2_ENST00000474050.1_3'UTR|GLIPR2_ENST00000396613.3_3'UTR NM_022343.2 NP_071738.1 Q9H4G4 GAPR1_HUMAN GLI pathogenesis-related 2 NA NA positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374) extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139) protein homodimerization activity (GO:0042803) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(3) 10 CACATAAATACAAAGCAGCTT 0.363 NA T||| 1904 0.380192 0.3956 0.1974 5008 , , NA 17678 0.4524 NA 0.3052 False NA ,,, NA NA NA 2504 0.4918 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY039756 CCDS6598.1, CCDS69595.1, CCDS75832.1, CCDS75833.1 9p13.3 2008-08-15 2008-08-15 2008-08-15 ENSG00000122694 ENSG00000122694 152007 18007 protein-coding gene gene with protein product 607141 chromosome 9 open reading frame 19 C9orf19 NA 12137952, 11865038 Standard NM_022343 NM_022343 NA Approved GAPR-1 uc003zyz.3 Q9H4G4 OTTHUMG00000019900 ENST00000377960.4:c.*483C>T chr9.hg19:g.36163002C>T NA Q5VZR1|Q8N2S6|Q8WWC9|Q8WX36 hg19 CCDS6598.1 0.02 15.533277 ATAxAAA COVERED NOVEL GLIPR2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000052414.1 3 41.536282 KEEP 0 0 0 138 4961 CC 1 1 0 + 25 60 906 0 0 62.682667 349 60 13398 646 ENST00000377960.4 0.066845 1 GLIPR2 152007 __UNKNOWN__ __UNKNOWN__ 9 36163563 36163563 __UNKNOWN__ 3'UTR SNP G G A rs6610 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:36163563G>A ENST00000377960.4 + 0 1543 GLIPR2_ENST00000474050.1_3'UTR|GLIPR2_ENST00000396613.3_3'UTR NM_022343.2 NP_071738.1 Q9H4G4 GAPR1_HUMAN GLI pathogenesis-related 2 NA NA positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374) extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139) protein homodimerization activity (GO:0042803) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(3) 10 CAAATGTTCCGGGGAGGCGGC 0.592 NA A||| 2090 0.417332 0.5356 0.2032 5008 , , NA 19129 0.4504 NA 0.3042 False NA ,,, NA NA NA 2504 0.4918 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY039756 CCDS6598.1, CCDS69595.1, CCDS75832.1, CCDS75833.1 9p13.3 2008-08-15 2008-08-15 2008-08-15 ENSG00000122694 ENSG00000122694 152007 18007 protein-coding gene gene with protein product 607141 chromosome 9 open reading frame 19 C9orf19 NA 12137952, 11865038 Standard NM_022343 NM_022343 NA Approved GAPR-1 uc003zyz.3 Q9H4G4 OTTHUMG00000019900 ENST00000377960.4:c.*1044G>A chr9.hg19:g.36163563G>A NA Q5VZR1|Q8N2S6|Q8WWC9|Q8WX36 hg19 CCDS6598.1 0.02 7.012024 TCCxGGG COVERED NOVEL GLIPR2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000052414.1 0 26.181996 KEEP 0 0 0 87 2996 GG 1 1 0 + 9 60 326 0 0 22.036756 144 60 4921 304 ENST00000377960.4 0.058824 1 CCIN 881 __UNKNOWN__ __UNKNOWN__ 9 36169494 36169494 __UNKNOWN__ 5'UTR SNP G G A rs3739610 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:36169494G>A ENST00000335119.2 + 0 106 NM_005893.2 NP_005884.2 Q13939 CALI_HUMAN calicin NA NA cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634) breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4) 21 STAD - Stomach adenocarcinoma(86;0.228) GCCGACAAGAGGCACCATGAA 0.502 NA A||| 1919 0.383187 0.4334 0.1945 5008 , , NA 23148 0.4484 NA 0.2942 False NA ,,, NA NA NA 2504 0.4734 NA NA NA NA 0 A 1801,2605 637.6+/-396.8 367,1067,769 65 64 64 0.5 1 9 dbSNP_107 64 2573,6027 688.1+/-404.3 357,1859,2084 no utr-5 CCIN NM_005893.2 724,2926,2853 AA,AG,GG 29.9186,40.8761,33.6306 36169494 4374,8632 2203 4300 6503 SO:0001623 5_prime_UTR_variant Z46967 CCDS6599.1 9p13.1 2013-10-02 ENSG00000185972 ENSG00000185972 881 BTB/POZ domain containing 1568 protein-coding gene gene with protein product 603960 NA 7641791 Standard NM_005893 NM_005893 NA Approved KBTBD14, BTBD20 uc003zzb.4 Q13939 OTTHUMG00000019901 ENST00000335119.2:c.-6G>A chr9.hg19:g.36169494G>A NA Q9BXG7 hg19 CCDS6599.1 0.02 20.986386 AGAxGCA COVERED NOVEL CCIN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000052418.1 2 29.496178 KEEP 0 0 0 98 3498 GG 1 1 0 + 30 60 1117 0 0 77.319447 449 60 16659 694 ENST00000335119.2 0.06263 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 36171428 36171428 __UNKNOWN__ IGR SNP G G A rs10972771 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:36171428G>A NA NA CCIN (99 upstream) : CLTA (19424 downstream) NA NA NA GGAAACTCAGGGCCACTATGT 0.582 NA G||| 1919 0.383187 0.4334 0.1945 5008 , , NA 18276 0.4484 NA 0.2942 False NA ,,, NA NA NA 2504 0.4734 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.36171428G>A NA hg19 0.02 8.618722 CAGxGCC COVERED NOVEL 0 2 6.019407 KEEP 0 0 0 20 686 GG 0.999863 0.999863 0 10 60 366 0 0 23.939739 199 60 7166 247 0.047847 1 CLTA 1211 __UNKNOWN__ __UNKNOWN__ 9 36211827 36211827 __UNKNOWN__ 3'UTR SNP C C T rs1053414 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:36211827C>T ENST00000242285.6 + 0 923 CLTA_ENST00000470744.1_3'UTR|CLTA_ENST00000396603.2_3'UTR|CLTA_ENST00000345519.5_3'UTR|CLTA_ENST00000433436.2_3'UTR|CLTA_ENST00000540080.1_3'UTR|CLTA_ENST00000538225.1_3'UTR P09496 CLCA_HUMAN clathrin, light chain A NA NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-Golgi vesicle-mediated transport (GO:0006892) clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588) clathrin heavy chain binding (GO:0032050)|peptide binding (GO:0042277)|structural molecule activity (GO:0005198) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1) 6 STAD - Stomach adenocarcinoma(86;0.228) CTCAGTGAAGCTCTTCACAGT 0.438 NA C||| 753 0.150359 0.2042 0.0735 5008 , , NA 21354 0.1944 NA 0.1074 False NA ,,, NA NA NA 2504 0.1309 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS6600.1, CCDS6601.1, CCDS43802.1, CCDS55306.1, CCDS55307.1 9p13.3 2010-05-11 2010-05-11 ENSG00000122705 ENSG00000122705 1211 2090 protein-coding gene gene with protein product 118960 clathrin, light polypeptide (Lca) NA 7713494 Standard NM_007096 NM_007096 NA Approved Lca uc003zzc.3 P09496 OTTHUMG00000019896 ENST00000242285.6:c.*56C>T chr9.hg19:g.36211827C>T NA A8K4W3|B4DIN1|F5H6N3|Q2XPN5|Q53XZ1 hg19 CCDS6601.1 0.02 11.844225 AAGxTCT COVERED NOVEL CLTA-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000052405.1 4 16.251993 KEEP 0 0 0 54 1896 CC 1 1 0 + 20 60 705 0 0 47.315822 309 60 11507 409 ENST00000242285.6 0.06079 1 RNF38 152006 __UNKNOWN__ __UNKNOWN__ 9 36372416 36372416 __UNKNOWN__ Intron SNP T T C rs10972875 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:36372416T>C ENST00000259605.6 - 4 464 RNF38_ENST00000491349.1_Intron|RNF38_ENST00000357058.3_Intron|RNF38_ENST00000350199.4_Intron|RNF38_ENST00000377885.2_Intron|RNF38_ENST00000377877.4_Intron|RNF38_ENST00000353739.4_Intron NM_022781.4 NP_073618.3 Q9H0F5 RNF38_HUMAN ring finger protein 38 NA NA male gonad development (GO:0008584)|protein ubiquitination (GO:0016567) nucleus (GO:0005634)|sperm flagellum (GO:0036126) ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1) 11 STAD - Stomach adenocarcinoma(86;0.228) TTCACAGTTCTTTGTTTTATT 0.323 NA t||| 136 0.0271565 0.0287 0.0072 5008 , , NA 18603 0.0179 NA 0.005 False NA ,,, NA NA NA 2504 0.0716 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS6603.1, CCDS6604.1 9p 2013-01-09 ENSG00000137075 ENSG00000137075 152006 RING-type (C3HC4) zinc fingers 18052 protein-coding gene gene with protein product 612488 NA Standard NM_022781 XM_005251364 NA Approved uc003zzh.3 Q9H0F5 OTTHUMG00000019905 ENST00000259605.6:c.357-2487A>G chr9.hg19:g.36372416T>C NA A6PVP9|B1AM81|B1AM82|B3KSG4|E7EVL3|Q7LB33|Q8N0Y0|Q9H748 hg19 CCDS6603.1 0.02 3.786572 TTCxTTG COVERED NOVEL RNF38-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000052422.3 0 8.423449 KEEP 0 0 0 28 842 TT 0.999997 0.999997 0 - 6 60 218 0 0 13.780334 141 60 5228 185 ENST00000259605.6 0.040816 1 PAX5 5079 __UNKNOWN__ __UNKNOWN__ 9 37026614 37026614 __UNKNOWN__ Intron SNP C C T rs10973168 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:37026614C>T ENST00000358127.4 - 2 121 PAX5_ENST00000377853.2_Intron|PAX5_ENST00000523145.1_Intron|PAX5_ENST00000520281.1_Intron|PAX5_ENST00000446742.1_Intron|PAX5_ENST00000414447.1_Intron|PAX5_ENST00000523241.1_Intron|PAX5_ENST00000520154.1_Intron|PAX5_ENST00000522003.1_Intron|PAX5_ENST00000377847.2_Intron|PAX5_ENST00000377852.2_Intron NM_001280554.1|NM_001280556.1|NM_016734.1 NP_001267483.1|NP_001267485.1|NP_057953.1 Q02548 PAX5_HUMAN paired box 5 NA NA humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366) nucleus (GO:0005634) RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077) p.?(9) PAX5/JAK2(18) NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1) 171 all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44) GBM - Glioblastoma multiforme(29;0.0108) CCGCCGCCTCCCGGCGCCAAG 0.662 NA T, Mis, D, F, S IGH@, ETV6, PML, FOXP1, ZNF521, ELN NHL, ALL, B-ALL C||| 160 0.0319489 0.031 0.0086 5008 , , NA 14953 0.0883 NA 0.005 False NA ,,, NA NA NA 2504 0.0194 NA NA NA Dom yes 9 9p13 5079 paired box gene 5 (B-cell lineage specific activator protein) L 9 Unknown(9) haematopoietic_and_lymphoid_tissue(9) NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS6607.1, CCDS65039.1, CCDS65040.1, CCDS65041.1, CCDS65042.1, CCDS65043.1, CCDS65044.1, CCDS65045.1, CCDS65046.1, CCDS65047.1, CCDS65048.1 9p13.2 2011-06-20 2007-07-12 ENSG00000196092 ENSG00000196092 5079 Paired boxes, Homeoboxes / PRD class 8619 protein-coding gene gene with protein product B-cell lineage specific activator 167414 paired box gene 5 (B-cell lineage specific activator protein), paired box gene 5 (B-cell lineage specific activator) NA 1516825, 8431641 Standard NM_016734 NA Approved BSAP uc003zzo.1 Q02548 OTTHUMG00000019907 ENST00000358127.4:c.47-5816G>A chr9.hg19:g.37026614C>T NA A3QVP6|A3QVP7|A3QVP8|C0KTF6|C0KTF7|C0KTF8|C0KTF9|C0KTG0|O75933|Q5SFM2|Q6S728|Q6S729|Q6S730|Q6S731|Q6S732 hg19 CCDS6607.1 0.02 11.875157 CTCxCGG COVERED NOVEL PAX5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000052433.1 2 19.260764 KEEP 0 0 0 64 2258 CC 1 1 0 - 10 60 351 0 0 20.33547 327 60 12185 487 ENST00000358127.4 0.029674 1 FRMPD1 22844 __UNKNOWN__ __UNKNOWN__ 9 37715724 37715724 __UNKNOWN__ Intron SNP T T G rs1952125 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:37715724T>G ENST00000539465.1 + 6 1001 FRMPD1_ENST00000377765.3_Intron|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000536622.1_De_novo_Start_OutOfFrame|FRMPD1_ENST00000541302.1_Intron Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 NA NA cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886) NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GBM - Glioblastoma multiforme(29;0.00655) AAGATATTCATGGTAGCAGAG 0.413 NA G||| 3063 0.611621 0.525 0.5303 5008 , , NA 19071 0.8958 NA 0.4493 False NA ,,, NA NA NA 2504 0.6605 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB023184 CCDS6612.1 9p13.1 2008-02-05 ENSG00000070601 ENSG00000070601 22844 29159 protein-coding gene gene with protein product NA 10231032 Standard NM_014907 NM_014907 NA Approved KIAA0967, FRMD2 uc004aag.1 Q5SYB0 OTTHUMG00000019927 ENST00000539465.1:c.409-3342T>G chr9.hg19:g.37715724T>G NA B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3 hg19 CCDS6612.1 0.02 9.822983 TCAxGGT COVERED NOVEL FRMPD1-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000402969.1 2 8.425952 KEEP 0 0 0 28 900 TT 0.999997 0.999997 0 + 11 60 420 0 0 28.047798 220 60 8194 325 ENST00000539465.1 0.047619 1 RP11-613M10.9 0 __UNKNOWN__ __UNKNOWN__ 9 37886429 37886429 __UNKNOWN__ Intron SNP G G A rs13294843 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:37886429G>A ENST00000540557.1 - 7 1617 SLC25A51_ENST00000496760.1_Intron|SLC25A51_ENST00000380590.3_Intron NA NA NA TCAATTCCAGGCTCTTTCCAT 0.483 NA G||| 952 0.190096 0.0287 0.2507 5008 , , NA 20846 0.3393 NA 0.1491 False NA ,,, NA NA NA 2504 0.2536 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000540557.1:c.891+13396C>T chr9.hg19:g.37886429G>A NA hg19 0.02 7.80589 CAGxCTC COVERED NOVEL RP11-613M10.9-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000401856.1 2 9.58483 KEEP 1 0 0 32 1073 GG 0.999997 0.999997 0 - 8 60 287 0 0 17.752618 203 60 7264 275 ENST00000540557.1 0.037915 1 SHB 6461 __UNKNOWN__ __UNKNOWN__ 9 37974743 37974743 __UNKNOWN__ Silent SNP T T C rs1138374 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:37974743T>C ENST00000377707.3 - 3 1495 c.930A>G c.(928-930)tcA>tcG p.S310S RP11-613M10.9_ENST00000540557.1_3'UTR NM_003028.2 NP_003019.2 Q15464 SHB_HUMAN Src homology 2 domain containing adaptor protein B 310 Mediates interaction with LAT, PTK2/FAK1, JAK1 and JAK3. NA angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|plasma membrane (GO:0005886) SH3/SH2 adaptor activity (GO:0005070) central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1) 11 all_epithelial(88;0.122) GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658) TCTCCGAGTCTGAGTCAACAC 0.572 NA T||| 3114 0.621805 0.7156 0.513 5008 , , NA 17275 0.7768 NA 0.5328 False NA ,,, NA NA NA 2504 0.5041 NA NA NA NA 0 T 2833,1279 974,885,197 91 100 97 930 -11.1 0.1 9 dbSNP_86 97 4312,4042 1121,2070,986 no coding-synonymous SHB NM_003028.2 2095,2955,1183 CC,CT,TT 48.384,31.1041,42.6841 310/510 37974743 7145,5321 2056 4177 6233 SO:0001819 synonymous_variant CCDS43806.1 9p13.2 2013-09-23 2005-05-24 ENSG00000107338 ENSG00000107338 6461 SH2 domain containing 10838 protein-coding gene gene with protein product 600314 SHB adaptor protein (a Src homology 2 protein), SHB (Src homology 2 domain containing) adaptor protein B NA 7713524 Standard NM_003028 NA Approved uc004aax.3 Q15464 OTTHUMG00000019936 ENST00000377707.3:c.930A>G chr9.hg19:g.37974743T>C NA B9EGM0|D3DRQ5|Q504U5|Q5VUM8 hg19 CCDS43806.1 0.02 6.530702 GTCxGAG COVERED NOVEL SHB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000052490.1 0 8.561092 KEEP 0 1 36 41 1302 TT 1 1 0 - 13 60 440 0 0 30.941073 139 60 5097 265 ENST00000377707.3 0.085526 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 38526824 38526824 __UNKNOWN__ IGR SNP C C G rs10814705 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:38526824C>G NA NA IGFBPL1 (102380 upstream) : RP11-392E22.12 (13739 downstream) NA NA NA GGTGGGTGCTCTATATGGCGG 0.736 NA C||| 510 0.101837 0.0023 0.0865 5008 , , NA 10827 0.2054 NA 0.0795 False NA ,,, NA NA NA 2504 0.1636 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.38526824C>G NA hg19 0.02 7.802007 GCTxTAT COVERED NOVEL 0 1 12.038536 KEEP 0 0 0 40 1402 CC 1 1 0 8 60 307 0 0 20.83964 147 60 5538 245 0.051613 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 45098201 45098201 __UNKNOWN__ IGR SNP C C T rs62548833 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:45098201C>T NA NA RP11-374M1.3 (51056 upstream) : RP11-374M1.2 (10190 downstream) NA NA NA tgcctgtaatcccagcacttt 0.498 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.45098201C>T NA hg19 0.02 -0.070186 AATxCCA UNCOVERED NOVEL 0 2 4.2138 KEEP 8 0 0 14 501 CC 0.99257 0.053735 0 2 44 80 0 0 7.000573 6 45 221 33 0.25 0.054137 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 45363836 45363836 __UNKNOWN__ IGR SNP G G A rs112572669 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:45363836G>A NA NA RP11-449H15.2 (151335 upstream) : RP11-187C18.5 (30008 downstream) NA NA NA GAGACAGAGCGGAACGCCCAC 0.577 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.45363836G>A NA hg19 0.02 9.782507 AGCxGAA COVERED NOVEL 0 0 6.08993 KEEP 6 2 65 43 1485 GG 1 1 0 14 49 533 0 0 38.187689 179 50 6304 344 0.072539 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 65595104 65595104 __UNKNOWN__ IGR SNP G G A rs201420555 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:65595104G>A NA NA SPATA31A7 (85494 upstream) : RP11-118H15.1 (285428 downstream) NA NA NA CACAAGCACCGAGGGAACCCA 0.468 NA G||| 829 0.165535 0.0159 0.3242 5008 , , NA 16310 0.2321 NA 0.1203 False NA ,,, NA NA NA 2504 0.2331 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.65595104G>A NA hg19 0.02 2.196875 ACCxAGG COVERED NOVEL 0 1 5.116155 KEEP 37 0 0 17 580 GG 0.993072 0.972741 0 4 45 135 0 0 9.170374 52 50 1874 128 0.071429 0.979526 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 66455778 66455778 __UNKNOWN__ IGR SNP G G A rs377749333 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:66455778G>A NA NA RP11-118H15.1 (571893 upstream) : RP11-262H14.1 (1510 downstream) NA NA NA CGCTGAGCGTGCCCACGGGCC 0.632 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.66455778G>A NA hg19 0.02 1.779814 CGTxCCC COVERED NOVEL 0 2 2.407598 KEEP 0 0 0 8 279 GG 0.99257 0.991893 0 5 60 148 0 0 10.827321 32 60 1130 106 0.135135 0.999317 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 66457018 66457018 __UNKNOWN__ IGR SNP C C T rs61448030 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:66457018C>T NA NA RP11-118H15.1 (573133 upstream) : RP11-262H14.1 (270 downstream) NA NA NA attgctcactcggagagcttg 0.547 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.66457018C>T NA hg19 0.02 4.01834 ACTxGGA COVERED NOVEL 0 1 3.009356 KEEP 2 0 0 10 330 CC 0.99254 0.99254 0 7 60 244 0 0 17.859512 63 60 2397 146 0.1 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 66457161 66457161 __UNKNOWN__ IGR SNP A A G rs139907210 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:66457161A>G NA NA RP11-118H15.1 (573276 upstream) : RP11-262H14.1 (127 downstream) NA NA NA ggatggagaaatagaaccaga 0.537 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.66457161A>G NA hg19 0.02 16.987755 GAAxTAG COVERED NOVEL 0 8 4.004065 KEEP 16 3 111 52 1615 AA 1 1 0 20 60 759 0 0 57.492588 174 60 6284 575 0.103093 1 RP11-262H14.1 0 __UNKNOWN__ __UNKNOWN__ 9 66457330 66457330 __UNKNOWN__ lincRNA SNP G G T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:66457330G>T ENST00000424345.1 + 0 42 NA NA NA cagcgacagagccttggagag 0.632 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000424345.1: chr9.hg19:g.66457330G>T NA hg19 0.02 17.377095 AGAxCCT COVERED NOVEL RP11-262H14.1-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000128851.1 2 5.186999 KEEP 32 2 62 39 1426 GG 0.999999 0.999999 0 + 11 49 398 0 0 26.110942 208 60 7789 560 ENST00000424345.1 0.050228 1 RP11-262H14.1 0 __UNKNOWN__ __UNKNOWN__ 9 66457628 66457628 __UNKNOWN__ lincRNA SNP G G A rs10907851 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:66457628G>A ENST00000424345.1 + 0 67 NA NA NA CACGGGGCGAGGCCTGGGTCT 0.612 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000424345.1: chr9.hg19:g.66457628G>A NA hg19 0.02 8.381344 CGAxGCC COVERED NOVEL RP11-262H14.1-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000128851.1 2 9.660783 KEEP 10 1 28 42 1397 GG 1 1 0 + 7 49 237 0 0 15.768969 102 60 3500 339 ENST00000424345.1 0.06422 1 RP11-262H14.1 0 __UNKNOWN__ __UNKNOWN__ 9 66457646 66457646 __UNKNOWN__ lincRNA SNP G G T rs78339757 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:66457646G>T ENST00000424345.1 + 0 67 NA NA NA TCTCTCTCCTGTCCTCCGGAC 0.612 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000424345.1: chr9.hg19:g.66457646G>T NA hg19 0.02 9.224544 CCTxTCC COVERED NOVEL RP11-262H14.1-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000128851.1 2 3.648382 KEEP 11 1 37 25 875 CG 0.999957 0.999957 0 + 8 49 299 0 0 21.33433 100 60 3729 271 ENST00000424345.1 0.074074 1 RP11-262H14.1 0 __UNKNOWN__ __UNKNOWN__ 9 66457999 66457999 __UNKNOWN__ lincRNA SNP C C A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:66457999C>A ENST00000424345.1 + 0 67 NA NA NA ATGCTGCTGCCTGGCGGTGCT 0.731 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000424345.1: chr9.hg19:g.66457999C>A NA hg19 0.02 -0.438666 TGCxTGG COVERED NOVEL RP11-262H14.1-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000128851.1 3 2.709002 KEEP 0 0 0 9 337 CC 0.99254 0.952699 0 + 5 40 191 0 0 15.537985 26 60 970 72 ENST00000424345.1 0.16129 0.959859 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 66484682 66484682 __UNKNOWN__ IGR SNP A A T rs200511421 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:66484682A>T NA NA RP11-262H14.1 (15372 upstream) : RP11-262H14.7 (32523 downstream) NA NA NA gaatagcttgaactcgggagg 0.468 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.66484682A>T NA hg19 0.02 -0.122821 TTGxACT UNCOVERED NOVEL 0 3 2.70801 KEEP 6 0 0 9 276 AA 0 0 0 5 60 178 0 0 16.222805 9 60 317 27 0.357143 0.196312 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 66499180 66499180 __UNKNOWN__ IGR SNP T T C rs2633108 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:66499180T>C NA NA RP11-262H14.1 (29870 upstream) : RP11-262H14.7 (18025 downstream) NA NA NA ACTGGGGCCGTTACACGTGAC 0.522 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.66499180T>C NA hg19 0.02 7.017071 CCGxTAC COVERED NOVEL 0 2 10.525316 KEEP 9 0 0 35 1024 TT 0.999999 0.999999 0 8 42 276 0 0 17.223982 188 60 6578 270 0.040816 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 66499694 66499694 __UNKNOWN__ IGR SNP A A G rs111388370 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:66499694A>G NA NA RP11-262H14.1 (30384 upstream) : RP11-262H14.7 (17511 downstream) NA NA NA TCCCAGGCCAATGTGTCCTTG 0.592 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.66499694A>G NA hg19 0.02 2.050646 CCAxTGT COVERED NOVEL 0 0 2.40718 KEEP 0 0 0 8 245 AA 0.99257 0.992133 0 16 47 597 0 0 49.949325 64 50 2334 101 0.2 0.999559 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 66500543 66500543 __UNKNOWN__ IGR SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:66500543G>A NA NA RP11-262H14.1 (31233 upstream) : RP11-262H14.7 (16662 downstream) NA NA NA TTTACCAGGGGGCGTGCAGCC 0.483 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.66500543G>A NA hg19 0.02 1.760204 GGGxGCG COVERED NOVEL 0 2 3.611244 KEEP 6 0 0 12 403 GG 0.993072 0.992563 0 4 55 140 0 0 9.014952 76 60 2690 105 0.05 0.999487 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 66500592 66500592 __UNKNOWN__ IGR SNP C C T rs28712882 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:66500592C>T NA NA RP11-262H14.1 (31282 upstream) : RP11-262H14.7 (16613 downstream) NA NA NA GTCCCGCAGCCAACCCCCGAA 0.572 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.66500592C>T NA hg19 0.02 4.661011 AGCxAAC COVERED NOVEL 0 3 3.445877 KEEP 17 1 30 22 787 CC 0.999859 0.999859 0 12 57 458 0 0 34.542213 109 60 3959 190 0.099174 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 66500599 66500599 __UNKNOWN__ IGR SNP C C G rs79756474 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:66500599C>G NA NA RP11-262H14.1 (31289 upstream) : RP11-262H14.7 (16606 downstream) NA NA NA AGCCAACCCCCGAAGAGCAGC 0.592 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.66500599C>G NA hg19 0.02 5.14814 CCCxGAA COVERED NOVEL 0 3 4.348212 KEEP 27 1 33 26 887 CC 0.999859 0.999858 0 13 60 451 0 0 33.73964 101 60 3769 202 0.114035 0.999999 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 66513270 66513270 __UNKNOWN__ IGR SNP T T C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:66513270T>C NA NA RP11-262H14.1 (43960 upstream) : RP11-262H14.7 (3935 downstream) NA NA NA GCCCTGTCTCTCCGCCTACAT 0.567 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.66513270T>C NA hg19 0.02 2.348316 CTCxCCG COVERED NOVEL 0 0 3.310045 KEEP 17 0 0 11 344 TT 0.99257 0.990484 0 4 25 152 0 0 10.455935 66 50 2325 114 0.057143 0.997898 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 67273407 67273407 __UNKNOWN__ IGR SNP G G A rs201639596 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:67273407G>A NA NA AL845321.1 (47955 upstream) : RP11-236F9.2 (16162 downstream) NA NA NA GGAGGCAGCTGAGGCCAGAGG 0.542 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.67273407G>A NA hg19 0.02 3.798025 GCTxAGG COVERED NOVEL 0 0 4.508635 KEEP 20 0 0 15 510 GG 0.995343 0.995342 0 5 40 174 0 0 11.453885 83 46 3018 170 0.056818 0.999999 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 67276662 67276662 __UNKNOWN__ IGR SNP A A G rs200752727 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:67276662A>G NA NA AL845321.1 (51210 upstream) : RP11-236F9.2 (12907 downstream) NA NA NA ccgagatcacaccactgcact 0.507 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.67276662A>G NA hg19 0.02 -0.078905 CACxCCA UNCOVERED NOVEL 0 4 3.911784 KEEP 3 0 0 13 403 AA 0.993072 0.0768 0 3 23 94 0 0 8.344201 6 48 205 33 0.333333 0.077336 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 67335967 67335967 __UNKNOWN__ IGR SNP T T C rs71251472|rs4043431 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:67335967T>C NA NA RP11-236F9.2 (37335 upstream) : RP11-38P6.1 (243839 downstream) NA NA NA gccataattgtgtcactgaac 0.473 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.67335967T>C NA hg19 0.02 -0.166693 TTGxGTC COVERED NOVEL 0 4 3.009102 KEEP 1 0 0 10 314 TT 0.992708 0.351366 0 4 27 145 0 0 12.501076 12 60 455 37 0.25 0.353947 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 67335968 67335968 __UNKNOWN__ IGR SNP G G A rs71251472|rs3882292 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:67335968G>A NA NA RP11-236F9.2 (37336 upstream) : RP11-38P6.1 (243838 downstream) NA NA NA ccataattgtgtcactgaact 0.473 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.67335968G>A NA hg19 0.02 -0.166697 TGTxTCA COVERED NOVEL 0 4 3.009943 KEEP 1 0 0 10 365 GG 0.992708 0.351366 0 4 27 149 0 0 12.780454 13 60 516 37 0.235294 0.353947 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68372238 68372238 __UNKNOWN__ IGR SNP G G A rs374781801 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:68372238G>A NA NA RP11-149F8.5 (31594 upstream) : RP11-764K9.1 (25639 downstream) NA NA NA CCTCCCCCCAGCCTATCTCAC 0.493 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.68372238G>A NA hg19 0.02 4.219747 CCAxCCT UNCOVERED NOVEL 0 0 2.407903 KEEP 65 0 0 8 291 GG 0 0 0 7 40 243 0 0 17.582294 67 40 2490 186 0.094595 0.999992 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68414790 68414790 __UNKNOWN__ IGR SNP C C G rs78954749 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:68414790C>G NA NA RP11-764K9.1 (4897 upstream) : MIR4477B (517 downstream) NA NA NA attagccaggcatggtggtag 0.502 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.68414790C>G NA hg19 0.02 -0.36774 AGGxATG COVERED NOVEL 0 13 6.456445 KEEP 0 1 33 33 1161 CC 0.999998 0.899312 0 3 60 115 0 0 9.409491 15 60 552 91 0.166667 0.899314 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68415212 68415212 __UNKNOWN__ IGR SNP A A T rs143303312 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:68415212A>T NA NA RP11-764K9.1 (5319 upstream) : MIR4477B (95 downstream) NA NA NA gtaaaggtatagctgtcatag 0.323 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.68415212A>T NA hg19 0.02 4.713664 TATxGCT COVERED NOVEL 0 11 3.309517 KEEP 0 0 0 11 331 AA 0.993072 0.993072 0 9 60 321 0 0 23.831688 78 60 2687 142 0.103448 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68415231 68415231 __UNKNOWN__ IGR SNP T T G rs140259548 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:68415231T>G NA NA RP11-764K9.1 (5338 upstream) : MIR4477B (76 downstream) NA NA NA agatagtgatttctttgatga 0.333 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.68415231T>G NA hg19 0.02 4.811266 GATxTCT COVERED NOVEL 0 8 4.211393 KEEP 0 0 0 14 411 TT 0.995343 0.995343 0 5 60 193 0 0 12.814831 107 60 3867 185 0.044643 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68415302 68415302 __UNKNOWN__ IGR SNP A A G rs75680996 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:68415302A>G NA NA RP11-764K9.1 (5409 upstream) : MIR4477B (5 downstream) NA NA NA ctttcatgatatttgaacctc 0.343 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.68415302A>G NA hg19 0.02 9.555055 GATxTTT COVERED NOVEL 0 5 7.824421 KEEP 0 0 0 26 840 AA 0.999957 0.999957 0 11 60 424 0 0 29.328124 182 60 6707 324 0.056995 1 MIR4477B 100616194 __UNKNOWN__ __UNKNOWN__ 9 68415334 68415334 __UNKNOWN__ RNA SNP C C T rs34026740 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:68415334C>T ENST00000581659.1 + 0 27 NR_039688.1|NR_039689.1 microRNA 4477b NA NA NA cacaaatgtccttaatagcaa 0.358 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA 9 2011-09-12 100616194 ncRNAs / Micro RNAs 41898 non-coding RNA RNA, micro NA Standard NR_039689 NR_039689 NA Approved hsa-mir-4477b ENST00000581659.1: chr9.hg19:g.68415334C>T NA hg19 0.02 6.82609 GTCxTTA COVERED NOVEL MIR4477B-201 KNOWN basic miRNA NA miRNA 5 6.32069 KEEP 0 0 0 21 764 CC 0.999869 0.999869 0 + 6 60 229 0 0 14.589743 158 60 5928 271 ENST00000581659.1 0.036585 1 MIR4477B 100616194 __UNKNOWN__ __UNKNOWN__ 9 68415380 68415380 __UNKNOWN__ RNA SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:68415380G>A ENST00000581659.1 + 0 73 NR_039688.1|NR_039689.1 microRNA 4477b NA NA NA gtgattgatgggaggaggatg 0.413 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA 9 2011-09-12 100616194 ncRNAs / Micro RNAs 41898 non-coding RNA RNA, micro NA Standard NR_039689 NR_039689 NA Approved hsa-mir-4477b ENST00000581659.1: chr9.hg19:g.68415380G>A NA hg19 0.02 2.118807 ATGxGAG COVERED NOVEL MIR4477B-201 KNOWN basic miRNA NA miRNA 2 3.009711 KEEP 0 0 0 10 346 GG 0.992708 0.992664 0 + 4 60 159 0 0 11.36818 58 60 2103 118 ENST00000581659.1 0.064516 0.999956 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68415736 68415736 __UNKNOWN__ IGR SNP C C T rs79090368 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:68415736C>T NA NA MIR4477B (348 upstream) : CR786580.2 (96609 downstream) NA NA NA agagggtttactccaattttg 0.358 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.68415736C>T NA hg19 0.02 8.9822 TTAxTCC COVERED NOVEL 0 3 21.671882 KEEP 3 0 0 72 2669 CC 1 1 0 15 60 551 0 0 41.129199 134 60 5151 392 0.100671 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68415752 68415752 __UNKNOWN__ IGR SNP A A C rs144315063 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:68415752A>C NA NA MIR4477B (364 upstream) : CR786580.2 (96593 downstream) NA NA NA ttttgaaagaagttctactgt 0.343 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.68415752A>C NA hg19 0.02 6.170489 AGAxGTT COVERED NOVEL 0 2 6.426304 KEEP 2 3 108 59 1880 AA 1 1 0 6 60 207 0 0 13.093499 120 60 4481 344 0.047619 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68422416 68422416 __UNKNOWN__ IGR SNP G G A rs111550796 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:68422416G>A NA NA MIR4477B (7028 upstream) : CR786580.2 (89929 downstream) NA NA NA TGggctgggcgcggtgactca 0.443 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.68422416G>A NA hg19 0.02 2.208575 GGCxCGG COVERED NOVEL 0 32 4.918494 KEEP 5 3 90 48 1652 GG 1 0.994422 0 4 60 152 0 0 12.762541 16 60 524 148 0.2 0.994422 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68427740 68427740 __UNKNOWN__ IGR SNP A A T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:68427740A>T NA NA MIR4477B (12352 upstream) : CR786580.2 (84605 downstream) NA NA NA ATCCTGGTTAAACTAGCTACT 0.308 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.68427740A>T NA hg19 0.02 39.554997 TTAxACT COVERED NOVEL 0 5 31.56972 KEEP 29 2 66 128 4250 AA 1 1 0 24 60 931 0 0 59.135176 678 60 24739 1174 0.034188 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68427854 68427854 __UNKNOWN__ IGR SNP C C T rs140372562 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:68427854C>T NA NA MIR4477B (12466 upstream) : CR786580.2 (84491 downstream) NA NA NA AAACAAAAATCCCAGTCATTT 0.279 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.68427854C>T NA hg19 0.02 35.392121 AATxCCA COVERED NOVEL 0 11 17.218315 KEEP 60 16 516 238 8422 CC 1 1 0 30 50 1101 0 0 72.908508 561 70 20583 1289 0.050761 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68429234 68429234 __UNKNOWN__ IGR SNP A A G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:68429234A>G NA NA MIR4477B (13846 upstream) : CR786580.2 (83111 downstream) NA NA NA GATTATACATATTTACTATTA 0.318 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.68429234A>G NA hg19 0.02 15.636271 CATxTTT COVERED NOVEL 0 29 16.614166 KEEP 18 2 71 80 2359 AA 1 1 0 11 40 389 0 0 23.816475 296 60 10601 504 0.035831 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68433379 68433379 __UNKNOWN__ IGR SNP A A G rs1825863 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:68433379A>G NA NA MIR4477B (17991 upstream) : CR786580.2 (78966 downstream) NA NA NA CTTTAAAGTGACAGTAAATGA 0.299 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.68433379A>G NA hg19 0.02 40.998726 GTGxCAG COVERED NOVEL 0 10 4.99266 KEEP 11 8 267 110 3520 AA 1 1 0 81 60 2905 0 0 218.838716 649 60 22876 1137 0.110959 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68433456 68433456 __UNKNOWN__ IGR SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:68433456C>T NA NA MIR4477B (18068 upstream) : CR786580.2 (78889 downstream) NA NA NA TATAAAATGTCATCATTACCT 0.328 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.68433456C>T NA hg19 0.02 33.963104 TGTxATC COVERED NOVEL 0 6 41.205002 KEEP 12 2 63 159 5663 CC 1 1 0 22 60 761 0 0 45.346001 601 61 22993 1137 0.035313 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68433673 68433673 __UNKNOWN__ IGR SNP A A G rs150998881 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:68433673A>G NA NA MIR4477B (18285 upstream) : CR786580.2 (78672 downstream) NA NA NA AAATCACAGAAAAGAACTTAG 0.284 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.68433673A>G NA hg19 0.02 34.357938 AGAxAAG COVERED NOVEL 0 15 2.200133 KEEP 14 3 99 42 1156 AA 1 1 0 19 60 730 0 0 45.754192 561 60 19819 828 0.032759 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68436076 68436076 __UNKNOWN__ IGR SNP G G T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:68436076G>T NA NA MIR4477B (20688 upstream) : CR786580.2 (76269 downstream) NA NA NA gtgttcaaaagatgcatgtgg 0.418 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.68436076G>T NA hg19 0.02 -0.40342 AAAxATG UNCOVERED NOVEL 0 1 3.310179 KEEP 30 0 0 11 366 GG 0 0 0 4 31 140 0 0 10.218281 37 48 1397 87 0.097561 0.934492 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68439450 68439450 __UNKNOWN__ IGR SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:68439450G>A NA NA MIR4477B (24062 upstream) : CR786580.2 (72895 downstream) NA NA NA tcagcttcccgagtagctggg 0.498 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.68439450G>A NA hg19 0.02 -0.184016 CCCxAGT COVERED NOVEL 0 7 4.514475 KEEP 1 0 0 15 508 GG 0.995343 0.421506 0 2 48 74 0 0 6.403833 6 60 182 39 0.25 0.423478 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68452803 68452803 __UNKNOWN__ IGR SNP A A C rs201781644 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:68452803A>C NA NA MIR4477B (37415 upstream) : CR786580.2 (59542 downstream) NA NA NA GGAATTTACAACTGTAGGTAA 0.294 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.68452803A>C NA hg19 0.02 12.932154 ACAxCTG COVERED NOVEL 0 6 5.347914 KEEP 4 1 26 27 842 AA 0.999997 0.999997 0 36 47 1320 0 0 100.940783 272 60 9596 363 0.116883 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68452816 68452816 __UNKNOWN__ IGR SNP T T C rs113542819 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:68452816T>C NA NA MIR4477B (37428 upstream) : CR786580.2 (59529 downstream) NA NA NA GTAGGTAATATTTAAGCACTT 0.289 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.68452816T>C NA hg19 0.02 15.374247 ATAxTTA COVERED NOVEL 0 9 9.927924 KEEP 10 0 0 33 974 TT 0.999997 0.999997 0 23 47 854 1 0 60.049374 310 60 11446 401 0.069069 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68452843 68452843 __UNKNOWN__ IGR SNP A A G rs112126239 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:68452843A>G NA NA MIR4477B (37455 upstream) : CR786580.2 (59502 downstream) NA NA NA AAATATGAATACATCATAAAT 0.284 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.68452843A>G NA hg19 0.02 16.781801 AATxCAT COVERED NOVEL 0 8 8.960404 KEEP 21 1 29 40 1261 AA 0.999999 0.999999 0 22 47 846 0 0 59.915117 311 48 11173 417 0.066066 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68452888 68452888 __UNKNOWN__ IGR SNP A A G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:68452888A>G NA NA MIR4477B (37500 upstream) : CR786580.2 (59457 downstream) NA NA NA TGAGATCTCAAGAAATGTTAA 0.284 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.68452888A>G NA hg19 0.02 15.351813 TCAxGAA COVERED NOVEL 0 5 4.587778 KEEP 31 2 77 42 1396 AA 0.999999 0.999999 0 15 36 599 0 0 41.244026 283 55 10710 473 0.050336 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68482453 68482453 __UNKNOWN__ IGR SNP C C T rs377406960 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:68482453C>T NA NA MIR4477B (67065 upstream) : CR786580.2 (29892 downstream) NA NA NA ccagaccagcctgggtaacat 0.473 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.68482453C>T NA hg19 0.02 -0.236878 AGCxTGG COVERED NOVEL 0 1 3.310775 KEEP 1 0 0 11 390 CC 0.992708 0.607941 0 4 25 140 0 0 11.468112 17 60 661 46 0.190476 0.612407 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68681892 68681892 __UNKNOWN__ IGR SNP G G T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:68681892G>T NA NA CR786580.1 (168705 upstream) : AL353763.2 (315516 downstream) NA NA NA gggctcaagtgatcctcctga 0.453 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.68681892G>T NA hg19 0.02 1.942198 AGTxATC COVERED NOVEL 0 13 8.962854 KEEP 6 1 29 40 1403 GG 1 0.999678 0 12 49 437 0 0 34.400561 73 60 2809 174 0.141176 0.999678 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68681907 68681907 __UNKNOWN__ IGR SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:68681907G>A NA NA CR786580.1 (168720 upstream) : AL353763.2 (315501 downstream) NA NA NA tcctgacttggcctcccaaag 0.468 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.68681907G>A NA hg19 0.02 1.99802 TTGxCCT COVERED NOVEL 0 13 5.688825 KEEP 2 2 69 43 1508 GG 1 0.999835 0 13 49 452 0 0 35.401631 75 60 2808 181 0.147727 0.999835 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68681948 68681948 __UNKNOWN__ IGR SNP C C T rs371385362 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:68681948C>T NA NA CR786580.1 (168761 upstream) : AL353763.2 (315460 downstream) NA NA NA gccaccatgcccagtcctaaa 0.458 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.68681948C>T NA hg19 0.02 2.277744 TGCxCAG COVERED NOVEL 0 6 9.029701 KEEP 6 0 0 30 1075 CC 0.999997 0.999314 0 4 49 154 0 0 10.507453 72 60 2565 150 0.052632 0.999317 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68726259 68726259 __UNKNOWN__ IGR SNP C C G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:68726259C>G NA NA CR786580.1 (213072 upstream) : AL353763.2 (271149 downstream) NA NA NA GCCCGCAGCTCTAGCGGGAGG 0.756 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.68726259C>G NA hg19 0.02 -0.342138 GCTxTAG COVERED NOVEL 0 0 4.514743 KEEP 13 0 0 15 546 CC 0.994391 0.860889 0 2 49 80 0 0 6.606446 10 50 355 85 0.166667 0.865745 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68728922 68728922 __UNKNOWN__ IGR SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:68728922G>A NA NA CR786580.1 (215735 upstream) : AL353763.2 (268486 downstream) NA NA NA TCAGTTTTCAGTGCTTTATTC 0.284 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.68728922G>A NA hg19 0.02 32.344472 TCAxTGC COVERED NOVEL 0 12 46.087919 KEEP 69 18 579 356 12984 GG 1 1 0 29 59 1079 0 0 71.356343 569 60 21761 1532 0.048495 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68728952 68728952 __UNKNOWN__ IGR SNP T T C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:68728952T>C NA NA CR786580.1 (215765 upstream) : AL353763.2 (268456 downstream) NA NA NA TTAACATTTCTTGAGATCTCA 0.284 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.68728952T>C NA hg19 0.02 27.510258 TTCxTGA COVERED NOVEL 0 5 25.848283 KEEP 71 13 474 251 8249 TT 1 1 0 19 59 714 0 0 44.372072 548 60 20069 1131 0.03351 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 68728997 68728997 __UNKNOWN__ IGR SNP T T C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:68728997T>C NA NA CR786580.1 (215810 upstream) : AL353763.2 (268411 downstream) NA NA NA ATTTATGATGTATTCATATTT 0.284 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.68728997T>C NA hg19 0.02 14.206091 ATGxATT COVERED NOVEL 0 1 12.334555 KEEP 51 3 100 76 2316 TT 1 1 0 25 40 947 0 0 69.887186 259 50 9026 425 0.088028 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 69067824 69067824 __UNKNOWN__ IGR SNP A A T rs371906163 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:69067824A>T NA NA MIR1299 (65503 upstream) : PGM5P2 (12415 downstream) NA NA NA ACACAAATCAATATACTTAAA 0.264 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.69067824A>T NA hg19 0.02 9.220642 TCAxTAT COVERED NOVEL 0 2 3.344676 KEEP 44 1 31 22 707 AA 0.999869 0.999869 0 21 55 786 0 0 66.939462 73 60 2596 311 0.223404 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 69067918 69067918 __UNKNOWN__ IGR SNP T T G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:69067918T>G NA NA MIR1299 (65597 upstream) : PGM5P2 (12321 downstream) NA NA NA gaaACCCAGCTTGATATGTTG 0.279 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.69067918T>G NA hg19 0.02 17.50789 AGCxTGA COVERED NOVEL 0 6 2.962911 KEEP 110 10 365 137 4339 TT 1 1 0 22 40 872 0 0 63.185776 289 60 10712 740 0.07074 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 69067973 69067973 __UNKNOWN__ IGR SNP C C G rs377553662 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:69067973C>G NA NA MIR1299 (65652 upstream) : PGM5P2 (12266 downstream) NA NA NA GTTAACATTTCTTGAGATCTC 0.294 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.69067973C>G NA hg19 0.02 16.5613 TTTxTTG COVERED NOVEL 0 3 3.103536 KEEP 135 8 295 113 4084 CC 1 1 0 27 40 1017 0 0 72.97564 332 50 12708 754 0.075209 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 69073575 69073575 __UNKNOWN__ IGR SNP C C T rs369504971 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:69073575C>T NA NA MIR1299 (71254 upstream) : PGM5P2 (6664 downstream) NA NA NA tgattttgaactcctgggctt 0.438 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.69073575C>T NA hg19 0.02 -0.201788 GAAxTCC UNCOVERED NOVEL 0 5 3.912874 KEEP 13 0 0 13 475 CC 0 0 0 3 40 109 0 0 8.660108 17 40 654 55 0.15 0.490544 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 69777506 69777506 __UNKNOWN__ IGR SNP T T C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:69777506T>C NA NA AL445665.1 (117148 upstream) : AL359955.1 (44253 downstream) NA NA NA CAGTAATAAGTTGCAAAATCT 0.488 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.69777506T>C NA hg19 0.02 13.232653 AAGxTGC COVERED NOVEL 0 5 8.065773 KEEP 165 4 138 75 2430 TT 1 1 0 11 22 370 0 0 21.471712 318 47 11307 704 0.033435 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 69845804 69845804 __UNKNOWN__ IGR SNP C C G rs62562664 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:69845804C>G NA NA AL359955.1 (23963 upstream) : RNU6-1293P (46982 downstream) NA NA NA TTTCTTTCAGCTGTGTTCTCA 0.294 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.69845804C>G NA hg19 0.02 2.122995 CAGxTGT COVERED NOVEL 0 1 3.009967 KEEP 5 0 0 10 365 CC 0.99254 0.963578 0 5 46 180 0 0 13.194834 48 48 1821 83 0.09434 0.97082 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 70701311 70701311 __UNKNOWN__ IGR SNP A A G rs200064745|rs62548487 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:70701311A>G NA NA AL591479.1 (52355 upstream) : RP11-561O23.8 (142255 downstream) NA NA NA ggtggctcacacctgtaatcc 0.493 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.70701311A>G NA hg19 0.02 -0.087733 CACxCCT UNCOVERED NOVEL 0 1 2.406963 KEEP 2 0 0 8 244 AA 0 0 0 3 24 112 0 0 10.332856 5 47 185 23 0.375 0.099721 FXN 2395 __UNKNOWN__ __UNKNOWN__ 9 71687924 71687924 __UNKNOWN__ 3'UTR SNP C C T rs10890 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:71687924C>T ENST00000377270.3 + 0 1403 FXN_ENST00000396364.3_Intron|FXN_ENST00000498653.1_3'UTR|FXN_ENST00000396366.2_3'UTR NM_000144.4 NP_000135.2 Q16595 FRDA_HUMAN frataxin NA NA adult walking behavior (GO:0007628)|aerobic respiration (GO:0009060)|cellular iron ion homeostasis (GO:0006879)|cellular response to hydrogen peroxide (GO:0070301)|embryo development ending in birth or egg hatching (GO:0009792)|heme biosynthetic process (GO:0006783)|ion transport (GO:0006811)|iron incorporation into metallo-sulfur cluster (GO:0018283)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|oxidative phosphorylation (GO:0006119)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)|proprioception (GO:0019230)|protein autoprocessing (GO:0016540)|regulation of ferrochelatase activity (GO:0010722)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739) 2 iron, 2 sulfur cluster binding (GO:0051537)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)|iron chaperone activity (GO:0034986)|iron-sulfur cluster binding (GO:0051536) large_intestine(1)|lung(1) 2 TCACATGATACCCCTTATCTT 0.343 NA T||| 2827 0.564497 0.5688 0.5706 5008 , , NA 18796 0.6448 NA 0.4871 False NA ,,, NA NA NA 2504 0.5511 NA NA NA NA 0 GRCh37 CR084001 FXN R rs10890 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U43752 CCDS6626.1, CCDS43834.1, CCDS55313.1 9q21.11 2014-09-17 2004-08-16 2004-08-19 ENSG00000165060 ENSG00000165060 2395 3951 protein-coding gene gene with protein product 606829 Friedreich ataxia FRDA NA 8596916, 8841185 Standard NM_000144 NM_000144 NA Approved FA, FARR, X25, CyaY uc004aha.2 Q16595 OTTHUMG00000019977 ENST00000377270.3:c.*246C>T chr9.hg19:g.71687924C>T NA A8MXJ6|C9JJ89|O15545|O95656|Q15294|Q5VZ01 hg19 CCDS6626.1 0.02 6.331798 ATAxCCC COVERED NOVEL FXN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000052568.2 3 6.92217 KEEP 0 0 0 23 792 CC 0.999892 0.999892 0 + 7 60 256 0 0 15.993853 179 60 6567 239 ENST00000377270.3 0.037634 1 FXN 2395 __UNKNOWN__ __UNKNOWN__ 9 71688101 71688101 __UNKNOWN__ 3'UTR SNP A A G rs4745577 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:71688101A>G ENST00000377270.3 + 0 1580 FXN_ENST00000396364.3_Intron NM_000144.4 NP_000135.2 Q16595 FRDA_HUMAN frataxin NA NA adult walking behavior (GO:0007628)|aerobic respiration (GO:0009060)|cellular iron ion homeostasis (GO:0006879)|cellular response to hydrogen peroxide (GO:0070301)|embryo development ending in birth or egg hatching (GO:0009792)|heme biosynthetic process (GO:0006783)|ion transport (GO:0006811)|iron incorporation into metallo-sulfur cluster (GO:0018283)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|oxidative phosphorylation (GO:0006119)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)|proprioception (GO:0019230)|protein autoprocessing (GO:0016540)|regulation of ferrochelatase activity (GO:0010722)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739) 2 iron, 2 sulfur cluster binding (GO:0051537)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)|iron chaperone activity (GO:0034986)|iron-sulfur cluster binding (GO:0051536) large_intestine(1)|lung(1) 2 TCACTGTTCTATCTCCAAATG 0.403 NA G||| 2828 0.564696 0.5688 0.5706 5008 , , NA 18674 0.6448 NA 0.4881 False NA ,,, NA NA NA 2504 0.5511 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U43752 CCDS6626.1, CCDS43834.1, CCDS55313.1 9q21.11 2014-09-17 2004-08-16 2004-08-19 ENSG00000165060 ENSG00000165060 2395 3951 protein-coding gene gene with protein product 606829 Friedreich ataxia FRDA NA 8596916, 8841185 Standard NM_000144 NM_000144 NA Approved FA, FARR, X25, CyaY uc004aha.2 Q16595 OTTHUMG00000019977 ENST00000377270.3:c.*423A>G chr9.hg19:g.71688101A>G NA A8MXJ6|C9JJ89|O15545|O95656|Q15294|Q5VZ01 hg19 CCDS6626.1 0.02 4.320792 TCTxTCT COVERED NOVEL FXN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000052568.2 1 8.425381 KEEP 0 0 0 28 874 AA 0.999997 0.999997 0 + 6 60 228 0 0 14.852548 137 60 4976 204 ENST00000377270.3 0.041958 1 TJP2 9414 __UNKNOWN__ __UNKNOWN__ 9 71852760 71852760 __UNKNOWN__ Intron SNP G G A rs2309421 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:71852760G>A ENST00000377245.4 + 15 2387 TJP2_ENST00000348208.4_Intron|TJP2_ENST00000265384.7_Intron|TJP2_ENST00000453658.2_Intron|TJP2_ENST00000535702.1_Intron|TJP2_ENST00000539225.1_Intron NM_004817.3 NP_004808.2 Q9UDY2 ZO2_HUMAN tight junction protein 2 NA NA apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033) cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923) guanylate kinase activity (GO:0004385) NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 35 CTAGGCAAGTGTGTATGCTTT 0.398 NA G||| 1430 0.285543 0.1581 0.4496 5008 , , NA 18744 0.4554 NA 0.2207 False NA ,,, NA NA NA 2504 0.2331 NA NA NA NA 0 G ,,,,, 734,3672 302.1+/-287.2 74,586,1543 95 79 85 ,,,,, -3.6 0 9 dbSNP_100 85 1821,6779 324.9+/-316.7 200,1421,2679 no intron,intron,intron,intron,intron,intron TJP2 NM_001170414.1,NM_001170415.1,NM_001170416.1,NM_001170630.1,NM_004817.3,NM_201629.3 ,,,,, 274,2007,4222 AA,AG,GG 21.1744,16.6591,19.6448 ,,,,, ,,,,, 71852760 2555,10451 2203 4300 6503 SO:0001627 intron_variant L27476 CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1 9q13-q21 2012-07-12 2012-07-12 ENSG00000119139 ENSG00000119139 9414 11828 protein-coding gene gene with protein product Friedreich ataxia region gene X104 (tight junction protein ZO-2), zona occludens 2 607709 deafness, autosomal dominant 51 DFNA51 NA 7951235, 20602916 Standard NM_201629 NM_001170630 NA Approved ZO-2, X104, ZO2 uc011lrv.2 Q9UDY2 OTTHUMG00000019978 ENST00000377245.4:c.2180-34G>A chr9.hg19:g.71852760G>A NA A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1 hg19 CCDS6627.1 0.02 6.325179 AGTxTGT COVERED NOVEL TJP2-003 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000052572.2 1 9.631099 KEEP 0 0 0 32 1128 GG 0.999997 0.999997 0 + 10 60 346 0 0 23.024849 154 60 5875 249 ENST00000377245.4 0.060976 1 TJP2 9414 __UNKNOWN__ __UNKNOWN__ 9 71862987 71862987 __UNKNOWN__ Silent SNP G G A rs2095876 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:71862987G>A ENST00000377245.4 + 19 2935 c.2727G>A c.(2725-2727)gcG>gcA p.A909A TJP2_ENST00000348208.4_Silent_p.A909A|TJP2_ENST00000265384.7_Silent_p.A909A|TJP2_ENST00000453658.2_Silent_p.A886A|TJP2_ENST00000498204.1_3'UTR|TJP2_ENST00000535702.1_Silent_p.A913A|TJP2_ENST00000539225.1_Silent_p.A940A NM_004817.3 NP_004808.2 Q9UDY2 ZO2_HUMAN tight junction protein 2 909 NA apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033) cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923) guanylate kinase activity (GO:0004385) NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 35 CCATGGGCGCGGACTATCTGA 0.562 NA G||| 1423 0.284145 0.1664 0.4539 5008 , , NA 18637 0.4504 NA 0.2197 False NA ,,, NA NA NA 2504 0.2178 NA NA NA NA 0 G ,,,,, 755,3651 306.9+/-289.7 78,599,1526 84 76 79 2658,2739,2820,2727,2727,2727 3 1 9 dbSNP_96 79 1812,6788 321.1+/-314.9 196,1420,2684 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous TJP2 NM_001170414.1,NM_001170415.1,NM_001170416.1,NM_001170630.1,NM_004817.3,NM_201629.3 ,,,,, 274,2019,4210 AA,AG,GG 21.0698,17.1357,19.737 ,,,,, 886/1021,913/1158,940/1222,909/994,909/1191,909/1044 71862987 2567,10439 2203 4300 6503 SO:0001819 synonymous_variant L27476 CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1 9q13-q21 2012-07-12 2012-07-12 ENSG00000119139 ENSG00000119139 9414 11828 protein-coding gene gene with protein product Friedreich ataxia region gene X104 (tight junction protein ZO-2), zona occludens 2 607709 deafness, autosomal dominant 51 DFNA51 NA 7951235, 20602916 Standard NM_201629 NM_001170630 NA Approved ZO-2, X104, ZO2 uc011lrv.2 Q9UDY2 OTTHUMG00000019978 ENST00000377245.4:c.2727G>A chr9.hg19:g.71862987G>A NA A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1 hg19 CCDS6627.1 0.02 4.492885 CGCxGAC COVERED NOVEL TJP2-003 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000052572.2 2 9.329397 KEEP 0 0 0 31 1052 GG 0.999997 0.999992 0 + 5 60 180 0 0 11.517063 107 60 3686 191 ENST00000377245.4 0.044643 0.999995 APBA1 320 __UNKNOWN__ __UNKNOWN__ 9 72046040 72046040 __UNKNOWN__ 3'UTR SNP G G A rs1105307 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:72046040G>A ENST00000265381.4 - 0 2939 NM_001163.3 NP_001154.2 Q02410 APBA1_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 1 NA NA axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268) Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021) beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546) endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3) 37 GAGTGCATACGAAACTTCCCT 0.483 NA g||| 1793 0.358027 0.3343 0.3228 5008 , , NA 14307 0.4921 NA 0.2535 False NA ,,, NA NA NA 2504 0.3845 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF029106 CCDS6630.1 9q13-q21 2008-07-18 2008-07-18 ENSG00000107282 ENSG00000107282 320 578 protein-coding gene gene with protein product 602414 MINT1 NA 7678331, 7719031 Standard NM_001163 NM_001163 NA Approved D9S411E, X11 uc004ahh.2 Q02410 OTTHUMG00000019984 ENST00000265381.4:c.*203C>T chr9.hg19:g.72046040G>A NA O14914|O60570|Q5VYR8 hg19 CCDS6630.1 0.02 4.291339 TACxAAA COVERED NOVEL APBA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000052589.2 1 4.212591 KEEP 0 0 0 14 436 GG 0.995343 0.995312 0 - 10 60 358 1 0 26.990941 79 60 2664 132 ENST00000265381.4 0.11236 0.999968 APBA1 320 __UNKNOWN__ __UNKNOWN__ 9 72131577 72131577 __UNKNOWN__ Missense_Mutation SNP A A C rs34788368 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:72131577A>C ENST00000265381.4 - 2 772 c.550T>G c.(550-552)Tcc>Gcc p.S184A NM_001163.3 NP_001154.2 Q02410 APBA1_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 1 184 NA S -> A (in dbSNP:rs34788368). axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268) Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021) beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546) endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3) 37 TAGGGCTCGGAGTAGGGCTCG 0.662 NA C||| 1018 0.203275 0.3245 0.1787 5008 , , NA 12120 0.2976 NA 0.0736 False NA ,,, NA NA NA 2504 0.093 NA NA NA NA 0 C ALA/SER 1219,3185 172,875,1155 35 32 33 550 5.1 1 9 dbSNP_126 33 773,7821 31,711,3555 yes missense APBA1 NM_001163.3 99 203,1586,4710 CC,CA,AA 8.9946,27.6794,15.3254 benign 184/838 72131577 1992,11006 2202 4297 6499 SO:0001583 missense AF029106 CCDS6630.1 9q13-q21 2008-07-18 2008-07-18 ENSG00000107282 ENSG00000107282 320 578 protein-coding gene gene with protein product 602414 MINT1 NA 7678331, 7719031 Standard NM_001163 NM_001163 NA Approved D9S411E, X11 uc004ahh.2 Q02410 OTTHUMG00000019984 ENST00000265381.4:c.550T>G chr9.hg19:g.72131577A>C ENSP00000265381:p.Ser184Ala NA O14914|O60570|Q5VYR8 hg19 CCDS6630.1 0.02 12.510358 CGGxGTA COVERED 439 0.20100732600732601 162 0.32926829268292684 62 0.1712707182320442 161 0.28146853146853146 54 0.0712401055408971 C 0.026 -1.373835 0.01214 0.276794 0.089946 ENSG00000107282 ENST00000265381 T 0.03889 3.77 5.08 5.08 0.68730 . 0.126810 0.53938 N 0.000046 T 0.00012 0.0000 N 0.04880 -0.145 0.45515 P 0.0015260000000000273 B 0.02656 0.0 B 0.04013 0.001 T 0.44892 -0.9298 9 0.02654 T 1 . 15.3975 0.74808 0.1406:0.8594:0.0:0.0 rs34788368;rs62567207 184 Q02410 APBA1_HUMAN A 184 ENSP00000265381:S184A ENSP00000265381:S184A S - 1 0 APBA1 71321397 1.000000 0.71417 1.000000 0.80357 0.130000 0.20726 2.801000 0.47908 1.295000 0.44724 -0.217000 0.12591 TCC NOVEL APBA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000052589.2 2 19.252424 KEEP 0 0 0 64 1968 AA 1 1 0 - 17 60 568 1 0 36.351996 293 60 9856 448 ENST00000265381.4 0.054839 1 PTAR1 375743 __UNKNOWN__ __UNKNOWN__ 9 72328727 72328727 __UNKNOWN__ 3'UTR SNP A A G rs7857137 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:72328727A>G ENST00000377200.5 - 0 5586 Q7Z6K3 PTAR1_HUMAN protein prenyltransferase alpha subunit repeat containing 1 NA NA protein prenylation (GO:0018342) protein prenyltransferase activity (GO:0008318) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2) 5 GCTTAAAATGATAACTAATGG 0.418 NA A||| 1233 0.246206 0.093 0.2939 5008 , , NA 19146 0.3542 NA 0.327 False NA ,,, NA NA NA 2504 0.2249 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC053622 CCDS47978.1 9q21.13 2008-10-01 ENSG00000188647 ENSG00000188647 375743 Prenyltransferase alpha subunit repeat containing 30449 protein-coding gene gene with protein product NA 12477932 Standard NM_001099666 NM_001099666 NA Approved uc004ahj.4 Q7Z6K3 OTTHUMG00000019982 ENST00000377200.5:c.*4531T>C chr9.hg19:g.72328727A>G NA Q5T7V5|Q5T7V6 hg19 0.02 5.736739 ATGxTAA COVERED NOVEL PTAR1-001 NOVEL basic protein_coding NA protein_coding OTTHUMT00000052581.2 0 8.725671 KEEP 0 0 0 29 890 AA 0.999997 0.999997 0 - 8 60 287 0 0 17.990397 189 60 6830 249 ENST00000377200.5 0.040609 1 TRPM3 80036 __UNKNOWN__ __UNKNOWN__ 9 73150918 73150918 __UNKNOWN__ Intron SNP C C T rs41287373 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:73150918C>T ENST00000377111.2 - 26 4199 TRPM3_ENST00000408909.2_Missense_Mutation_p.R1551K|TRPM3_ENST00000396292.4_Missense_Mutation_p.R1564K|TRPM3_ENST00000377106.1_Missense_Mutation_p.R1564K|TRPM3_ENST00000423814.3_Missense_Mutation_p.R1719K|TRPM3_ENST00000396285.1_Missense_Mutation_p.R1551K|TRPM3_ENST00000357533.2_Missense_Mutation_p.R1696K|TRPM3_ENST00000396280.5_Missense_Mutation_p.R1541K|TRPM3_ENST00000377105.1_Missense_Mutation_p.R1551K|TRPM3_ENST00000377110.3_Missense_Mutation_p.R1692K|TRPM3_ENST00000360823.2_Missense_Mutation_p.R1554K|TRPM3_ENST00000358082.3_Missense_Mutation_p.R1554K NM_001007471.2 NP_001007472.2 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 NA NA calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261) NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 TCTGGACAGTCTCCTCATGGA 0.517 NA C||| 1040 0.207668 0.0681 0.3228 5008 , , NA 21340 0.1766 NA 0.2803 False NA ,,, NA NA NA 2504 0.272 NA NA NA NA 0 C LYS/ARG,LYS/ARG,LYS/ARG,LYS/ARG,LYS/ARG,LYS/ARG,LYS/ARG 438,3968 209.2+/-230.0 32,374,1797 125 125 125 5075,4616,4652,4586,4622,4691,4661 5.6 1 9 dbSNP_127 125 2597,6003 422.5+/-354.0 414,1769,2117 yes missense,missense,missense,missense,missense,missense,missense TRPM3 NM_001007471.2,NM_020952.4,NM_024971.5,NM_206944.3,NM_206945.3,NM_206946.3,NM_206947.3 26,26,26,26,26,26,26 446,2143,3914 TT,TC,CC 30.1977,9.941,23.3354 benign,benign,benign,benign,benign,benign,benign 1692/1708,1539/1555,1551/1567,1529/1545,1541/1557,1564/1580,1554/1570 73150918 3035,9971 2203 4300 6503 SO:0001627 intron_variant AB046836 CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1 9q21.11 2011-12-14 ENSG00000083067 ENSG00000083067 80036 Voltage-gated ion channels / Transient receptor potential cation channels 17992 protein-coding gene gene with protein product melastatin 2 608961 NA 16382100 Standard NM_206945 NM_206946 NA Approved KIAA1616, LTRPC3, GON-2 uc004aid.3 Q9HCF6 OTTHUMG00000019997 ENST00000377111.2:c.3956-551G>A chr9.hg19:g.73150918C>T NA A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2 hg19 0.02 26.198218 AGTxTCC COVERED 458 0.2097069597069597 30 0.06097560975609756 126 0.34806629834254144 98 0.17132867132867133 204 0.2691292875989446 C 13.32 2.202198 0.38905 0.09941 0.301977 ENSG00000083067 ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814 T;T;T;T;T;T;T;T;T;T 0.51574 0.73;0.73;0.73;0.7;0.74;0.7;0.73;0.73;0.73;0.73 5.57 5.57 0.84162 . 0.104908 0.64402 D 0.000004 T 0.00012 0.0000 N 0.12182 0.205 0.26598 P 0.9730724 B;B;B;B;B;B;B 0.06786 0.001;0.001;0.0;0.0;0.001;0.001;0.0 B;B;B;B;B;B;B 0.06405 0.002;0.001;0.0;0.0;0.001;0.001;0.0 T 0.37314 -0.9711 9 0.23302 T 0.38 -18.1855 19.5403 0.95271 0.0:1.0:0.0:0.0 rs41287373;rs62543232 1692;1682;1696;1554;1551;1664;1551 Q9HCF6-2;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3 .;.;.;.;.;.;. K 1692;1564;1554;1551;1696;1551;1551;1564;1554;1719 ENSP00000366314:R1692K;ENSP00000366310:R1564K;ENSP00000354066:R1554K;ENSP00000366309:R1551K;ENSP00000350140:R1696K;ENSP00000386127:R1551K;ENSP00000379581:R1551K;ENSP00000379587:R1564K;ENSP00000350791:R1554K;ENSP00000389542:R1719K ENSP00000350140:R1696K R - 2 0 TRPM3 72340738 1.000000 0.71417 1.000000 0.80357 0.966000 0.64601 5.745000 0.68672 2.619000 0.88677 0.655000 0.94253 AGA NOVEL TRPM3-007 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000214157.5 2 27.99121 KEEP 0 0 0 93 3354 CC 1 1 0 - 20 60 698 0 0 40.413513 646 60 24528 897 ENST00000377111.2 0.03003 1 TRPM3 80036 __UNKNOWN__ __UNKNOWN__ 9 73150984 73150984 __UNKNOWN__ Intron SNP C C T rs6560142 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:73150984C>T ENST00000377111.2 - 26 4199 TRPM3_ENST00000408909.2_Missense_Mutation_p.R1529Q|TRPM3_ENST00000396292.4_Missense_Mutation_p.R1542Q|TRPM3_ENST00000377106.1_Missense_Mutation_p.R1542Q|TRPM3_ENST00000423814.3_Missense_Mutation_p.R1697Q|TRPM3_ENST00000396285.1_Missense_Mutation_p.R1529Q|TRPM3_ENST00000357533.2_Missense_Mutation_p.R1674Q|TRPM3_ENST00000396280.5_Missense_Mutation_p.R1519Q|TRPM3_ENST00000377105.1_Missense_Mutation_p.R1529Q|TRPM3_ENST00000377110.3_Missense_Mutation_p.R1670Q|TRPM3_ENST00000360823.2_Missense_Mutation_p.R1532Q|TRPM3_ENST00000358082.3_Missense_Mutation_p.R1532Q NM_001007471.2 NP_001007472.2 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 NA NA calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261) NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 GAAGGGATTTCGCAGGCTTGC 0.562 NA C||| 3009 0.600839 0.6278 0.5764 5008 , , NA 18907 0.7937 NA 0.5835 False NA ,,, NA NA NA 2504 0.4008 NA NA NA NA 0 C GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG 2735,1671 657.4+/-400.2 862,1011,330 167 162 163 5009,4550,4586,4520,4556,4625,4595 5.8 1 9 dbSNP_116 163 4741,3859 609.1+/-395.5 1312,2117,871 yes missense,missense,missense,missense,missense,missense,missense TRPM3 NM_001007471.2,NM_020952.4,NM_024971.5,NM_206944.3,NM_206945.3,NM_206946.3,NM_206947.3 43,43,43,43,43,43,43 2174,3128,1201 TT,TC,CC 44.8721,37.9256,42.5188 possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging 1670/1708,1517/1555,1529/1567,1507/1545,1519/1557,1542/1580,1532/1570 73150984 7476,5530 2203 4300 6503 SO:0001627 intron_variant AB046836 CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1 9q21.11 2011-12-14 ENSG00000083067 ENSG00000083067 80036 Voltage-gated ion channels / Transient receptor potential cation channels 17992 protein-coding gene gene with protein product melastatin 2 608961 NA 16382100 Standard NM_206945 NM_206946 NA Approved KIAA1616, LTRPC3, GON-2 uc004aid.3 Q9HCF6 OTTHUMG00000019997 ENST00000377111.2:c.3956-617G>A chr9.hg19:g.73150984C>T NA A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2 hg19 0.02 23.717661 TTTxGCA COVERED 1406 0.6437728937728938 301 0.6117886178861789 194 0.5359116022099447 466 0.8146853146853147 445 0.5870712401055409 C 26.7 4.765198 0.90020 0.620744 0.551279 ENSG00000083067 ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814 T;T;T;T;T;T;T;T;T;T 0.59638 0.36;0.27;0.27;0.25;0.36;0.25;0.28;0.27;0.27;0.35 5.77 5.77 0.91146 . 0.000000 0.85682 D 0.000000 T 0.00012 0.0000 N 0.24115 0.695 0.21386 P 0.999701503 D;D;P;D;D;D;D 0.71674 0.998;0.998;0.913;0.984;0.998;0.998;0.997 D;D;B;B;D;D;D 0.75484 0.986;0.979;0.233;0.381;0.979;0.979;0.953 T 0.31308 -0.9948 9 0.32370 T 0.25 -8.4256 19.9981 0.97395 0.0:1.0:0.0:0.0 rs6560142;rs17535977;rs52826401;rs60325149;rs6560142 1670;1660;1674;1532;1529;1642;1529 Q9HCF6-2;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3 .;.;.;.;.;.;. Q 1670;1542;1532;1529;1674;1529;1529;1542;1532;1697 ENSP00000366314:R1670Q;ENSP00000366310:R1542Q;ENSP00000354066:R1532Q;ENSP00000366309:R1529Q;ENSP00000350140:R1674Q;ENSP00000386127:R1529Q;ENSP00000379581:R1529Q;ENSP00000379587:R1542Q;ENSP00000350791:R1532Q;ENSP00000389542:R1697Q ENSP00000350140:R1674Q R - 2 0 TRPM3 72340804 1.000000 0.71417 1.000000 0.80357 0.994000 0.84299 7.487000 0.81328 2.729000 0.93468 0.655000 0.94253 CGA NOVEL TRPM3-007 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000214157.5 2 18.283668 KEEP 0 1 32 72 2353 CC 1 1 0 - 21 60 761 0 0 47.384125 531 60 18150 709 ENST00000377111.2 0.038043 1 TRPM3 80036 __UNKNOWN__ __UNKNOWN__ 9 73376414 73376414 __UNKNOWN__ Intron SNP G G T rs4745036 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:73376414G>T ENST00000377111.2 - 8 1516 TRPM3_ENST00000408909.2_Intron|TRPM3_ENST00000396292.4_Intron|TRPM3_ENST00000377106.1_Intron|TRPM3_ENST00000423814.3_Intron|TRPM3_ENST00000396285.1_Intron|TRPM3_ENST00000357533.2_Intron|TRPM3_ENST00000396280.5_Intron|TRPM3_ENST00000377105.1_Intron|TRPM3_ENST00000377110.3_Intron|TRPM3_ENST00000377101.1_Silent_p.R306R|TRPM3_ENST00000360823.2_Intron|TRPM3_ENST00000358082.3_Intron NM_001007471.2 NP_001007472.2 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 NA NA calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261) NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 CTGTAAGCTCGGCCAGAAAGA 0.453 NA G||| 902 0.180112 0.0287 0.2464 5008 , , NA 21860 0.3819 NA 0.1839 False NA ,,, NA NA NA 2504 0.1258 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB046836 CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1 9q21.11 2011-12-14 ENSG00000083067 ENSG00000083067 80036 Voltage-gated ion channels / Transient receptor potential cation channels 17992 protein-coding gene gene with protein product melastatin 2 608961 NA 16382100 Standard NM_206945 NM_206946 NA Approved KIAA1616, LTRPC3, GON-2 uc004aid.3 Q9HCF6 OTTHUMG00000019997 ENST00000377111.2:c.1272+102C>A chr9.hg19:g.73376414G>T NA A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2 hg19 0.02 23.241057 CTCxGCC COVERED NOVEL TRPM3-007 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000214157.5 1 27.375088 KEEP 0 0 0 91 3066 GG 1 1 0 - 29 60 1073 0 0 72.083788 511 60 17418 776 ENST00000377111.2 0.053704 1 TRPM3 80036 __UNKNOWN__ __UNKNOWN__ 9 73390984 73390984 __UNKNOWN__ Intron SNP T T C rs11142586 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:73390984T>C ENST00000377111.2 - 7 1392 TRPM3_ENST00000408909.2_Intron|TRPM3_ENST00000396292.4_Intron|TRPM3_ENST00000377106.1_Intron|TRPM3_ENST00000423814.3_Intron|TRPM3_ENST00000396285.1_Intron|TRPM3_ENST00000357533.2_Intron|TRPM3_ENST00000396283.1_3'UTR|TRPM3_ENST00000396280.5_Intron|TRPM3_ENST00000377105.1_Intron|TRPM3_ENST00000377110.3_Intron|TRPM3_ENST00000377101.1_Intron|TRPM3_ENST00000360823.2_Intron|TRPM3_ENST00000358082.3_Intron NM_001007471.2 NP_001007472.2 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 NA NA calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261) NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 tcctcctgtatagcCATTtat 0.388 NA T||| 928 0.185304 0.0333 0.2493 5008 , , NA 18266 0.3889 NA 0.1859 False NA ,,, NA NA NA 2504 0.135 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB046836 CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1 9q21.11 2011-12-14 ENSG00000083067 ENSG00000083067 80036 Voltage-gated ion channels / Transient receptor potential cation channels 17992 protein-coding gene gene with protein product melastatin 2 608961 NA 16382100 Standard NM_206945 NM_206946 NA Approved KIAA1616, LTRPC3, GON-2 uc004aid.3 Q9HCF6 OTTHUMG00000019997 ENST00000377111.2:c.1148+8036A>G chr9.hg19:g.73390984T>C NA A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2 hg19 0.02 4.983457 GTAxAGC COVERED NOVEL TRPM3-007 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000214157.5 4 4.814021 KEEP 0 0 0 16 489 TT 0.997832 0.997827 0 - 9 60 345 0 0 25.158532 104 60 3824 154 ENST00000377111.2 0.079646 0.999995 TRPM3 80036 __UNKNOWN__ __UNKNOWN__ 9 73391084 73391084 __UNKNOWN__ Intron SNP C C T rs10868885 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:73391084C>T ENST00000377111.2 - 7 1392 TRPM3_ENST00000408909.2_Intron|TRPM3_ENST00000396292.4_Intron|TRPM3_ENST00000377106.1_Intron|TRPM3_ENST00000423814.3_Intron|TRPM3_ENST00000396285.1_Intron|TRPM3_ENST00000357533.2_Intron|TRPM3_ENST00000396283.1_3'UTR|TRPM3_ENST00000396280.5_Intron|TRPM3_ENST00000377105.1_Intron|TRPM3_ENST00000377110.3_Intron|TRPM3_ENST00000377101.1_Intron|TRPM3_ENST00000360823.2_Intron|TRPM3_ENST00000358082.3_Intron NM_001007471.2 NP_001007472.2 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 NA NA calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261) NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 agagtaaacccgcaccttgtc 0.393 NA T||| 1753 0.35004 0.0772 0.5418 5008 , , NA 18574 0.5069 NA 0.4642 False NA ,,, NA NA NA 2504 0.3037 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB046836 CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1 9q21.11 2011-12-14 ENSG00000083067 ENSG00000083067 80036 Voltage-gated ion channels / Transient receptor potential cation channels 17992 protein-coding gene gene with protein product melastatin 2 608961 NA 16382100 Standard NM_206945 NM_206946 NA Approved KIAA1616, LTRPC3, GON-2 uc004aid.3 Q9HCF6 OTTHUMG00000019997 ENST00000377111.2:c.1148+7936G>A chr9.hg19:g.73391084C>T NA A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2 hg19 0.02 7.017089 ACCxGCA COVERED NOVEL TRPM3-007 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000214157.5 0 5.050992 KEEP 0 1 32 28 949 CC 0.999997 0.999997 0 - 15 60 577 0 0 41.759117 184 60 6303 278 ENST00000377111.2 0.075377 1 TRPM3 80036 __UNKNOWN__ __UNKNOWN__ 9 73391369 73391369 __UNKNOWN__ Intron SNP T T C rs11142587 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:73391369T>C ENST00000377111.2 - 7 1392 TRPM3_ENST00000408909.2_Intron|TRPM3_ENST00000396292.4_Intron|TRPM3_ENST00000377106.1_Intron|TRPM3_ENST00000423814.3_Intron|TRPM3_ENST00000396285.1_Intron|TRPM3_ENST00000357533.2_Intron|TRPM3_ENST00000396283.1_Missense_Mutation_p.K267E|TRPM3_ENST00000396280.5_Intron|TRPM3_ENST00000377105.1_Intron|TRPM3_ENST00000377110.3_Intron|TRPM3_ENST00000377101.1_Intron|TRPM3_ENST00000360823.2_Intron|TRPM3_ENST00000358082.3_Intron NM_001007471.2 NP_001007472.2 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 NA NA calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261) NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 TCTTCCTTTTTTCTTTCTCTT 0.388 NA T||| 902 0.180112 0.0136 0.2493 5008 , , NA 19009 0.3889 NA 0.1859 False NA ,,, NA NA NA 2504 0.135 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB046836 CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1 9q21.11 2011-12-14 ENSG00000083067 ENSG00000083067 80036 Voltage-gated ion channels / Transient receptor potential cation channels 17992 protein-coding gene gene with protein product melastatin 2 608961 NA 16382100 Standard NM_206945 NM_206946 NA Approved KIAA1616, LTRPC3, GON-2 uc004aid.3 Q9HCF6 OTTHUMG00000019997 ENST00000377111.2:c.1148+7651A>G chr9.hg19:g.73391369T>C NA A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2 hg19 0.02 19.419081 TTTxTCT COVERED 433 0.19826007326007325 9 0.018292682926829267 83 0.2292817679558011 203 0.3548951048951049 138 0.1820580474934037 T 8.348 0.830331 0.16749 . . ENSG00000083067 ENST00000396283 T 0.68903 -0.36 3.35 -3.6 0.04570 . . . . . T 0.00012 0.0000 . . . 0.80722 P 0.0 . . . . . . T 0.21449 -1.0245 5 0.11485 T 0.65 . 4.4425 0.11580 0.178:0.4472:0.0:0.3748 rs11142587;rs52812618;rs60214925;rs11142587 . . . E 267 ENSP00000379579:K267E ENSP00000379579:K267E K - 1 0 TRPM3 72581189 0.005000 0.15991 0.000000 0.03702 0.021000 0.10359 1.164000 0.31810 -0.775000 0.04584 0.533000 0.62120 AAA NOVEL TRPM3-007 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000214157.5 3 18.356706 KEEP 0 0 0 61 1980 TT 1 1 0 - 22 60 852 0 0 57.99785 408 70 14699 583 ENST00000377111.2 0.051163 1 TRPM3 80036 __UNKNOWN__ __UNKNOWN__ 9 73408650 73408650 __UNKNOWN__ Intron SNP A A G rs11142598 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:73408650A>G ENST00000377111.2 - 7 1217 TRPM3_ENST00000408909.2_Intron|TRPM3_ENST00000396292.4_Intron|TRPM3_ENST00000377106.1_Intron|TRPM3_ENST00000423814.3_Intron|TRPM3_ENST00000396285.1_Intron|TRPM3_ENST00000357533.2_Intron|TRPM3_ENST00000396283.1_Intron|TRPM3_ENST00000361823.5_Intron|TRPM3_ENST00000396280.5_Intron|TRPM3_ENST00000377105.1_Intron|TRPM3_ENST00000377110.3_Intron|TRPM3_ENST00000377101.1_Intron|TRPM3_ENST00000360823.2_Intron|TRPM3_ENST00000358082.3_Intron NM_001007471.2 NP_001007472.2 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 NA NA calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261) NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 cctcacttagaatgattcaac 0.378 NA A||| 1301 0.259784 0.0726 0.3746 5008 , , NA 12779 0.4901 NA 0.1829 False NA ,,, NA NA NA 2504 0.273 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB046836 CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1 9q21.11 2011-12-14 ENSG00000083067 ENSG00000083067 80036 Voltage-gated ion channels / Transient receptor potential cation channels 17992 protein-coding gene gene with protein product melastatin 2 608961 NA 16382100 Standard NM_206945 NM_206946 NA Approved KIAA1616, LTRPC3, GON-2 uc004aid.3 Q9HCF6 OTTHUMG00000019997 ENST00000377111.2:c.974-9455T>C chr9.hg19:g.73408650A>G NA A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2 hg19 0.02 1.97174 TAGxATG COVERED NOVEL TRPM3-007 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000214157.5 0 6.016653 KEEP 0 0 0 20 609 AA 0.999869 0.999764 0 - 6 60 206 0 0 13.81945 87 60 3096 131 ENST00000377111.2 0.064516 0.999895 TMEM2 23670 __UNKNOWN__ __UNKNOWN__ 9 74299640 74299640 __UNKNOWN__ 3'UTR SNP G G C rs12237894 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:74299640G>C ENST00000377044.4 - 0 5164 TMEM2_ENST00000377066.5_3'UTR NM_001135820.1|NM_013390.2 NP_001129292.1|NP_037522.1 Q9UHN6 TMEM2_HUMAN transmembrane protein 2 NA NA multicellular organismal development (GO:0007275) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2) 56 all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255) GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16) ATCCTCAAAGGCTGCCCAGAA 0.478 NA G||| 622 0.124201 0.0106 0.1484 5008 , , NA 16374 0.2808 NA 0.1173 False NA ,,, NA NA NA 2504 0.1063 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS6638.1, CCDS47979.1 9q21.13 2011-07-19 ENSG00000135048 ENSG00000135048 23670 11869 protein-coding gene gene with protein product 605835 NA Standard NM_013390 NM_013390 NA Approved uc011lsa.1 Q9UHN6 OTTHUMG00000020000 ENST00000377044.4:c.*473C>G chr9.hg19:g.74299640G>C NA A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5 hg19 CCDS6638.1 0.02 4.433611 AAGxCTG COVERED NOVEL TMEM2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000052618.2 1 12.34007 KEEP 0 0 0 41 1434 GG 1 0.999998 0 - 5 60 188 0 0 12.185093 114 60 4077 188 ENST00000377044.4 0.042017 0.999998 GDA 9615 __UNKNOWN__ __UNKNOWN__ 9 74834384 74834384 __UNKNOWN__ Intron SNP C C T rs10869148 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:74834384C>T ENST00000358399.3 + 6 671 GDA_ENST00000238018.4_Intron|GDA_ENST00000376989.3_Intron|GDA_ENST00000376986.1_Intron|GDA_ENST00000477618.1_Intron|GDA_ENST00000545168.1_Intron NM_001242505.2|NM_001242506.2|NM_004293.4 NP_001229434.1|NP_001229435.1|NP_004284.1 Q9Y2T3 GUAD_HUMAN guanine deaminase NA NA guanine catabolic process (GO:0006147)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622) guanine deaminase activity (GO:0008892)|zinc ion binding (GO:0008270) central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1) 32 Myeloproliferative disorder(762;0.0122) Lung(182;0.0583) CCATTTGTTGCTTTATTTCAG 0.363 NA C||| 1682 0.335863 0.1687 0.3084 5008 , , NA 17322 0.5377 NA 0.3101 False NA ,,, NA NA NA 2504 0.3998 NA NA NA NA 0 C ,,, 915,3489 348.2+/-309.8 93,729,1380 105 100 102 ,,, 1.5 0.9 9 dbSNP_120 102 2740,5860 433.4+/-357.4 459,1822,2019 no intron,intron,intron,intron GDA NM_001242505.1,NM_001242506.1,NM_001242507.1,NM_004293.3 ,,, 552,2551,3399 TT,TC,CC 31.8605,20.7766,28.1067 ,,, ,,, 74834384 3655,9349 2202 4300 6502 SO:0001627 intron_variant AF095286 CCDS6641.1, CCDS56576.1, CCDS56577.1 9q21.13 2008-05-14 ENSG00000119125 ENSG00000119125 9615 4212 protein-coding gene gene with protein product 139260 NA 10075721, 3966794 Standard NM_001242507 NA Approved uc004air.3 Q9Y2T3 OTTHUMG00000020005 ENST00000358399.3:c.579-11C>T chr9.hg19:g.74834384C>T NA B4DTY5|Q5SZC7|Q9H335|Q9ULG2 hg19 CCDS6641.1 0.02 4.281142 TTGxTTT COVERED NOVEL GDA-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000052633.1 1 5.718964 KEEP 0 0 0 19 702 CC 0.99986 0.999833 0 + 5 60 182 0 0 11.923169 97 60 3634 149 ENST00000358399.3 0.04902 0.999973 TMC1 117531 __UNKNOWN__ __UNKNOWN__ 9 75303653 75303653 __UNKNOWN__ Silent SNP C C T rs2589615 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:75303653C>T ENST00000297784.5 + 6 585 c.45C>T c.(43-45)gaC>gaT p.D15D TMC1_ENST00000396237.3_Silent_p.D15D|TMC1_ENST00000340019.3_Silent_p.D15D NM_138691.2 NP_619636.2 Q8TDI8 TMC1_HUMAN transmembrane channel-like 1 15 Arg/Asp/Glu/Lys-rich (highly charged). NA auditory receptor cell development (GO:0060117)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005) external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426) voltage-gated calcium channel activity (GO:0005245) NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 36 AAAAAGAAGACGAGACTGAGG 0.368 NA C||| 2558 0.510783 0.77 0.4496 5008 , , NA 19992 0.4187 NA 0.4085 False NA ,,, NA NA NA 2504 0.4039 NA NA NA Pancreas(75;173 1345 14232 34245 43413) NA 0 C 3161,1245 694.7+/-405.8 1149,863,191 90 90 90 http://www.ncbi.nlm.nih.gov/sites/varvu?gene 45 -5.3 0.2 9 dbSNP_100 90 3698,4902 521.2+/-379.8 775,2148,1377 no coding-synonymous TMC1 NM_138691.2 1924,3011,1568 TT,TC,CC 43.0,28.2569,47.2628 15/761 75303653 6859,6147 2203 4300 6503 SO:0001819 synonymous_variant AF417578 CCDS6643.1 9q21 2014-01-28 ENSG00000165091 ENSG00000165091 117531 16513 protein-coding gene gene with protein product 606706 transmembrane, cochlear expressed, 1 DFNA36, DFNB7, DFNB11 NA 11850618, 11850623 Standard NM_138691 NA Approved uc004aiz.1 Q8TDI8 OTTHUMG00000020014 ENST00000297784.5:c.45C>T chr9.hg19:g.75303653C>T NA A8MVZ2|B1AM91 hg19 CCDS6643.1 0.02 13.508041 AGAxGAG COVERED NOVEL TMC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000052655.1 2 2.577991 KEEP 0 2 64 31 1057 CC 0.999998 0.999998 0 + 14 60 500 0 0 32.055671 296 60 10717 424 ENST00000297784.5 0.045161 1 TMC1 117531 __UNKNOWN__ __UNKNOWN__ 9 75315438 75315438 __UNKNOWN__ Missense_Mutation SNP G G A rs1796993 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:75315438G>A ENST00000297784.5 + 8 781 c.241G>A c.(241-243)Gaa>Aaa p.E81K TMC1_ENST00000396237.3_Missense_Mutation_p.E81K|TMC1_ENST00000340019.3_Missense_Mutation_p.E81K NM_138691.2 NP_619636.2 Q8TDI8 TMC1_HUMAN transmembrane channel-like 1 81 Arg/Asp/Glu/Lys-rich (highly charged). NA E -> K (in dbSNP:rs1796993). {ECO:0000269|PubMed:11850618}. auditory receptor cell development (GO:0060117)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005) external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426) voltage-gated calcium channel activity (GO:0005245) NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 36 TTAAAGAGAAGAAGAAGAAAT 0.323 NA G||| 1384 0.276358 0.2708 0.2493 5008 , , NA 12579 0.381 NA 0.163 False NA ,,, NA NA NA 2504 0.3119 NA NA NA Pancreas(75;173 1345 14232 34245 43413) NA 0 G LYS/GLU 1157,3249 371.0+/-319.8 156,845,1202 71 82 78 http://www.ncbi.nlm.nih.gov/sites/varvu?gene 241 5.5 1 9 dbSNP_89 78 1449,7143 256.2+/-280.8 116,1217,2963 yes missense TMC1 NM_138691.2 56 272,2062,4165 AA,AG,GG 16.8645,26.2596,20.0492 benign 81/761 75315438 2606,10392 2203 4296 6499 SO:0001583 missense AF417578 CCDS6643.1 9q21 2014-01-28 ENSG00000165091 ENSG00000165091 117531 16513 protein-coding gene gene with protein product 606706 transmembrane, cochlear expressed, 1 DFNA36, DFNB7, DFNB11 NA 11850618, 11850623 Standard NM_138691 NA Approved uc004aiz.1 Q8TDI8 OTTHUMG00000020014 ENST00000297784.5:c.241G>A chr9.hg19:g.75315438G>A ENSP00000297784:p.Glu81Lys NA A8MVZ2|B1AM91 hg19 CCDS6643.1 0.02 2.085738 GAAxAAG COVERED 603 0.2760989010989011 142 0.2886178861788618 96 0.26519337016574585 234 0.4090909090909091 131 0.17282321899736147 G 16.23 3.064900 0.55432 0.262596 0.168645 ENSG00000165091 ENST00000297784;ENST00000340019;ENST00000542143;ENST00000396237 T;T;T 0.52295 0.67;0.67;0.67 5.48 5.48 0.80851 . 0.064987 0.64402 D 0.000014 T 0.00012 0.0000 L 0.41492 1.28 0.21445 P 0.99968547 B 0.26635 0.155 B 0.18871 0.023 T 0.36359 -0.9751 9 0.09084 T 0.74 -13.9321 18.494 0.90858 0.0:0.0:1.0:0.0 rs1796993;rs17058087;rs59785599;rs1796993 81 Q8TDI8 TMC1_HUMAN K 81;81;75;81 ENSP00000297784:E81K;ENSP00000341433:E81K;ENSP00000379538:E81K ENSP00000297784:E81K E + 1 0 TMC1 74505258 1.000000 0.71417 1.000000 0.80357 0.991000 0.79684 5.552000 0.67281 2.730000 0.93505 0.655000 0.94253 GAA NOVEL TMC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000052655.1 1 3.912461 KEEP 0 0 0 13 468 GG 0.994391 0.993613 0 + 4 60 145 0 0 9.513937 76 60 2894 109 ENST00000297784.5 0.05 0.999218 ALDH1A1 216 __UNKNOWN__ __UNKNOWN__ 9 75554915 75554915 __UNKNOWN__ Intron SNP C C A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:75554915C>A ENST00000297785.3 - 2 226 ALDH1A1_ENST00000482210.1_Intron|ALDH1A1_ENST00000376939.1_Intron NM_000689.4 NP_000680.2 P00352 AL1A1_HUMAN aldehyde dehydrogenase 1 family, member A1 NA NA cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|positive regulation of Ras GTPase activity (GO:0032320)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) aldehyde dehydrogenase (NAD) activity (GO:0004029)|androgen binding (GO:0005497)|Ras GTPase activator activity (GO:0005099)|retinal dehydrogenase activity (GO:0001758) breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1) 17 Tretinoin(DB00755)|Vitamin A(DB00162) TTTTTGGTAACAAGGACAACT 0.363 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant K03000 CCDS6644.1 9q21.13 2010-08-05 ENSG00000165092 ENSG00000165092 216 1.2.1.36, 1.2.1.3 Aldehyde dehydrogenases 402 protein-coding gene gene with protein product retinaldehyde dehydrogenase 1 100640 PUMB1, ALDH1 NA 1709013 Standard NM_000689 NA Approved RALDH1 uc004ajd.3 P00352 OTTHUMG00000020019 ENST00000297785.3:c.171+148G>T chr9.hg19:g.75554915C>A NA O00768|Q5SYR1 hg19 CCDS6644.1 0.02 -0.36571 TAAxAAG COVERED NOVEL ALDH1A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000052679.1 1 2.375553 KEEP 0 0 0 8 198 CC 0.99257 0.892632 0 - 7 60 129 2 0 8.253513 34 60 1134 75 ENST00000297785.3 0.170732 0.899314 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 77550487 77550487 __UNKNOWN__ IGR SNP T T C rs35308989 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:77550487T>C NA NA TRPM6 (47477 upstream) : C9orf40 (11009 downstream) NA NA NA GCATTTCTTATCTGTATCAAT 0.408 NA T||| 660 0.131789 0.1536 0.0259 5008 , , NA 16297 0.2698 NA 0.0268 False NA ,,, NA NA NA 2504 0.1431 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.77550487T>C NA hg19 0.02 4.626687 TTAxCTG COVERED NOVEL 0 1 3.008081 KEEP 0 0 0 10 290 TT 0.992708 0.992707 0 7 60 263 0 0 17.807308 123 60 4401 144 0.053846 1 NMRK1 54981 __UNKNOWN__ __UNKNOWN__ 9 77675988 77675988 __UNKNOWN__ 3'UTR SNP C C T rs139802343 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:77675988C>T ENST00000376811.1 - 0 1550 Q9NWW6 NRK1_HUMAN nicotinamide riboside kinase 1 NA NA NAD biosynthetic process (GO:0009435) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|ribosylnicotinamide kinase activity (GO:0050262) NA TAATTAAAGACGGAAAAACAT 0.338 NA C||| 16 0.00319489 0.0045 0.0 5008 , , NA 20604 0.0069 NA 0.002 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK097144 CCDS6650.1, CCDS47981.1 9q21.31 2012-03-30 2012-03-30 2012-03-30 ENSG00000106733 ENSG00000106733 54981 26057 protein-coding gene gene with protein product 608704 chromosome 9 open reading frame 95 C9orf95 NA 15137942 Standard NM_017881 NM_017881 NA Approved FLJ20559, NRK1, bA235O14.2 uc004ajr.4 Q9NWW6 OTTHUMG00000020034 ENST00000376811.1:c.*476G>A chr9.hg19:g.77675988C>T NA Q5W124|Q8N430 hg19 0.02 6.578684 AGAxGGA COVERED NOVEL NMRK1-002 NOVEL basic protein_coding NA protein_coding OTTHUMT00000052706.1 1 6.620003 KEEP 0 0 0 22 719 CC 0.999879 0.999879 0 - 7 60 254 0 0 15.697596 185 60 6420 236 ENST00000376811.1 0.036458 1 PCSK5 5125 __UNKNOWN__ __UNKNOWN__ 9 78748973 78748973 __UNKNOWN__ Intron SNP C C T rs3739728 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:78748973C>T ENST00000376752.4 + 10 1685 PCSK5_ENST00000545128.1_Intron|PCSK5_ENST00000376767.3_Intron NM_006200.3 NP_006191.2 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 NA NA anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058) extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141) peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252) NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 CTCTCTGCTTCCCCCATCTTT 0.393 NA C||| 464 0.0926518 0.0325 0.0994 5008 , , NA 17216 0.2401 NA 0.0547 False NA ,,, NA NA NA 2504 0.0562 NA NA NA NA 0 C , 57,1695 0,57,819 44 45 45 , 4.8 1 9 dbSNP_107 45 176,3806 2,172,1817 no intron,intron PCSK5 NM_001190482.1,NM_006200.3 , 2,229,2636 TT,TC,CC 4.4199,3.2534,4.0635 , , 78748973 233,5501 876 1991 2867 SO:0001627 intron_variant CCDS6652.1, CCDS55320.1 9q21.13 2013-09-24 ENSG00000099139 ENSG00000099139 5125 8747 protein-coding gene gene with protein product 600488 NA 7782070 Standard NM_001190482 NA Approved PC5, PC6, SPC6 uc004akc.2 Q92824 OTTHUMG00000020039 ENST00000376752.4:c.1209-52C>T chr9.hg19:g.78748973C>T NA F5H2G7|Q13527|Q96EP4 hg19 CCDS6652.1 0.02 6.038544 CTTxCCC COVERED NOVEL PCSK5-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000052716.1 1 11.43529 KEEP 0 0 0 38 1274 CC 1 1 0 + 11 60 393 0 0 27.124557 150 70 5530 235 ENST00000376752.4 0.068323 1 PCSK5 5125 __UNKNOWN__ __UNKNOWN__ 9 78809822 78809822 __UNKNOWN__ 3'UTR SNP A A G rs7019429 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:78809822A>G ENST00000376752.4 + 0 4773 PCSK5_ENST00000545128.1_Intron NM_006200.3 NP_006191.2 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 NA NA anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058) extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141) peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252) NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 GAGGAATACTATCAACATGGA 0.458 NA A||| 3135 0.625998 0.612 0.6513 5008 , , NA 17543 0.7292 NA 0.5716 False NA ,,, NA NA NA 2504 0.5767 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS6652.1, CCDS55320.1 9q21.13 2013-09-24 ENSG00000099139 ENSG00000099139 5125 8747 protein-coding gene gene with protein product 600488 NA 7782070 Standard NM_001190482 NA Approved PC5, PC6, SPC6 uc004akc.2 Q92824 OTTHUMG00000020039 ENST00000376752.4:c.*1554A>G chr9.hg19:g.78809822A>G NA F5H2G7|Q13527|Q96EP4 hg19 CCDS6652.1 0.02 14.496884 ACTxTCA COVERED NOVEL PCSK5-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000052716.1 0 22.263457 KEEP 0 0 0 74 2252 AA 1 1 0 + 13 60 504 0 0 33.158127 298 60 10840 475 ENST00000376752.4 0.041801 1 PCSK5 5125 __UNKNOWN__ __UNKNOWN__ 9 78848554 78848554 __UNKNOWN__ Intron SNP G G C rs7854396 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:78848554G>C ENST00000545128.1 + 22 3404 NM_001190482.1 NP_001177411.1 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 NA NA anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058) extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141) peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252) NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 CCCCAAACCTGTTCCTCTTCT 0.557 NA G||| 2446 0.488419 0.4138 0.562 5008 , , NA 15590 0.748 NA 0.3877 False NA ,,, NA NA NA 2504 0.3732 NA NA NA NA 0 G 680,1072 133,414,329 91 77 81 -3.4 0 9 dbSNP_116 81 1589,2393 309,971,711 no intron PCSK5 NM_001190482.1 442,1385,1040 CC,CG,GG 39.9046,38.8128,39.571 78848554 2269,3465 876 1991 2867 SO:0001627 intron_variant CCDS6652.1, CCDS55320.1 9q21.13 2013-09-24 ENSG00000099139 ENSG00000099139 5125 8747 protein-coding gene gene with protein product 600488 NA 7782070 Standard NM_001190482 NA Approved PC5, PC6, SPC6 uc004akc.2 Q92824 OTTHUMG00000020039 ENST00000545128.1:c.2866+42G>C chr9.hg19:g.78848554G>C NA F5H2G7|Q13527|Q96EP4 hg19 CCDS55320.1 0.02 2.412708 CCTxTTC COVERED NOVEL PCSK5-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding 0 3.912677 KEEP 0 0 0 13 452 GG 0.994391 0.993264 0 + 5 60 197 0 0 14.053226 72 60 2648 93 ENST00000545128.1 0.064935 0.998867 RFK 55312 __UNKNOWN__ __UNKNOWN__ 9 79009139 79009139 __UNKNOWN__ 5'UTR SNP A A G rs3739729 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:79009139A>G ENST00000376736.1 - 0 282 RFK_ENST00000479197.1_5'UTR NM_018339.5 NP_060809.3 Q969G6 RIFK_HUMAN riboflavin kinase NA NA apoptotic process (GO:0006915)|FMN biosynthetic process (GO:0009398)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|reactive oxygen species metabolic process (GO:0072593)|riboflavin biosynthetic process (GO:0009231)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767) cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|riboflavin kinase activity (GO:0008531) pancreas(1)|prostate(1)|urinary_tract(1) 3 Riboflavin(DB00140) CGTCCTGCGGAGCCGCCGTCG 0.736 NA a||| 1584 0.316294 0.3154 0.3141 5008 , , NA 9996 0.369 NA 0.2883 False NA ,,, NA NA NA 2504 0.2935 NA NA NA NA 0 A 1047,2833 158,731,1051 4 5 4 -5.9 0 9 dbSNP_107 4 1996,5808 282,1432,2188 no utr-5 RFK NM_018339.5 440,2163,3239 GG,GA,AA 25.5766,26.9845,26.0442 79009139 3043,8641 1940 3902 5842 SO:0001623 5_prime_UTR_variant AK002011 CCDS35044.1, CCDS35044.2 9q21.31 2010-11-16 ENSG00000135002 ENSG00000135002 55312 30324 protein-coding gene gene with protein product 613010 NA 14580199 Standard NM_018339 NM_018339 NA Approved FLJ11149, RIFK uc004akd.2 Q969G6 OTTHUMG00000020040 ENST00000376736.1:c.-52T>C chr9.hg19:g.79009139A>G NA Q5JSG9|Q9NUT7 hg19 CCDS35044.2 0.02 5.004121 CGGxGCC COVERED NOVEL RFK-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000052720.1 1 24.778728 KEEP 0 1 35 95 2759 AA 1 0.999994 0 - 5 60 193 0 0 12.841894 106 60 3475 273 ENST00000376736.1 0.045045 0.999994 PRUNE2 158471 __UNKNOWN__ __UNKNOWN__ 9 79324955 79324955 __UNKNOWN__ Missense_Mutation SNP C C T rs11145017 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:79324955C>T ENST00000376718.3 - 8 2358 c.2235G>A c.(2233-2235)atG>atA p.M745I PRUNE2_ENST00000428286.1_Missense_Mutation_p.M386I NM_015225.2 NP_056040.2 Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 745 NA apoptotic process (GO:0006915) cytoplasm (GO:0005737) metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462) endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 GTGACTTCTCCATGGGCAGGT 0.488 NA C||| 1189 0.23742 0.2103 0.1599 5008 , , NA 18877 0.4643 NA 0.1551 False NA ,,, NA NA NA 2504 0.18 NA NA NA NA 0 C ILE/MET 627,2509 49,529,990 58 53 55 2235 -1 0 9 dbSNP_120 55 882,6282 50,782,2750 yes missense PRUNE2 NM_015225.2 10 99,1311,3740 TT,TC,CC 12.3116,19.9936,14.6505 benign 745/3089 79324955 1509,8791 1568 3582 5150 SO:0001583 missense BC019095 CCDS47982.1 9q21.32 2013-04-29 2006-11-24 2006-11-24 ENSG00000106772 ENSG00000106772 158471 25209 protein-coding gene gene with protein product olfaxin 610691 chromosome 9 open reading frame 65, KIAA0367 C9orf65, KIAA0367 NA 16288218 Standard NM_138818 NM_015225 NA Approved BMCC1, BNIPXL, A214N16.3, bA214N16.3 uc010mpk.3 Q8WUY3 OTTHUMG00000020047 ENST00000376718.3:c.2235G>A chr9.hg19:g.79324955C>T ENSP00000365908:p.Met745Ile NA B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665 hg19 CCDS47982.1 0.02 13.138076 CTCxATG COVERED 559|559 0.25595238095238093|0.25595238095238093 109|109 0.22154471544715448|0.22154471544715448 51|51 0.1408839779005525|0.1408839779005525 284|284 0.4965034965034965|0.4965034965034965 115|115 0.1517150395778364|0.1517150395778364 C|C 0.007|0.007 -1.952972|-1.952972 0.00470|0.00470 0.199936|0.199936 0.123116|0.123116 ENSG00000106772|ENSG00000106772 ENST00000426088|ENST00000376718;ENST00000428286;ENST00000422033 .|T;T .|0.41065 .|1.01;1.01 5.85|5.85 -0.966|-0.966 0.10320|0.10320 .|. .|0.879152 .|0.09764 .|N .|0.758826 T|T 0.00012|0.00012 0.0000|0.0000 N|N 0.08118|0.08118 0|0 0.22926|0.22926 P|P 0.99855568|0.99855568 .|B .|0.02656 .|0.0 .|B .|0.01281 .|0.0 T|T 0.48927|0.48927 -0.8991|-0.8991 4|9 .|0.21014 .|T .|0.42 0.0478|0.0478 7.2488|7.2488 0.26138|0.26138 0.3842:0.1308:0.0:0.485|0.3842:0.1308:0.0:0.485 rs11145017;rs17786899;rs52806352;rs59241784;rs11145017|rs11145017;rs17786899;rs52806352;rs59241784;rs11145017 .|745 .|Q8WUY3 .|PRUN2_HUMAN R|I 67|745;386;744 .|ENSP00000365908:M745I;ENSP00000397425:M386I .|ENSP00000365908:M745I G|M -|- 1|3 0|0 PRUNE2|PRUNE2 78514775|78514775 0.084000|0.084000 0.21492|0.21492 0.016000|0.016000 0.15963|0.15963 0.003000|0.003000 0.03518|0.03518 0.401000|0.401000 0.20948|0.20948 -0.419000|-0.419000 0.07439|0.07439 -0.253000|-0.253000 0.11424|0.11424 GGA|ATG NOVEL PRUNE2-003 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000052730.2 1 12.039023 KEEP 0 0 0 40 1402 CC 1 1 0 - 9 60 341 0 0 20.615801 309 60 11631 433 ENST00000376718.3 0.028302 1 PRUNE2 158471 __UNKNOWN__ __UNKNOWN__ 9 79325297 79325297 __UNKNOWN__ Silent SNP T T G rs11145018 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:79325297T>G ENST00000376718.3 - 8 2016 c.1893A>C c.(1891-1893)acA>acC p.T631T PRUNE2_ENST00000428286.1_Silent_p.T272T NM_015225.2 NP_056040.2 Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 631 NA apoptotic process (GO:0006915) cytoplasm (GO:0005737) metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462) endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 TCATATCTTCTGTATAGAGTG 0.488 NA T||| 1192 0.238019 0.2126 0.1599 5008 , , NA 18192 0.4643 NA 0.1551 False NA ,,, NA NA NA 2504 0.18 NA NA NA NA 0 T 628,2508 50,528,990 113 101 104 1893 4.6 0.7 9 dbSNP_120 104 882,6282 50,782,2750 no coding-synonymous PRUNE2 NM_015225.2 100,1310,3740 GG,GT,TT 12.3116,20.0255,14.6602 631/3089 79325297 1510,8790 1568 3582 5150 SO:0001819 synonymous_variant BC019095 CCDS47982.1 9q21.32 2013-04-29 2006-11-24 2006-11-24 ENSG00000106772 ENSG00000106772 158471 25209 protein-coding gene gene with protein product olfaxin 610691 chromosome 9 open reading frame 65, KIAA0367 C9orf65, KIAA0367 NA 16288218 Standard NM_138818 NM_015225 NA Approved BMCC1, BNIPXL, A214N16.3, bA214N16.3 uc010mpk.3 Q8WUY3 OTTHUMG00000020047 ENST00000376718.3:c.1893A>C chr9.hg19:g.79325297T>G NA B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665 hg19 CCDS47982.1 0.02 10.270693 TTCxGTA COVERED NOVEL PRUNE2-003 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000052730.2 2 9.327553 KEEP 0 0 0 31 973 TT 0.999997 0.999997 0 - 10 60 352 0 0 21.048759 283 60 10633 389 ENST00000376718.3 0.03413 1 GNA14 9630 __UNKNOWN__ __UNKNOWN__ 9 80263100 80263100 __UNKNOWN__ 5'UTR SNP G G A rs1122838 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:80263100G>A ENST00000341700.6 - 0 123 NM_004297.3 NP_004288.1 O95837 GNA14_HUMAN guanine nucleotide binding protein (G protein), alpha 14 NA NA adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|signal transduction (GO:0007165) extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886) G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871) endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 24 GTGCTCGGGGGAGAGTAGGAT 0.672 NA G||| 1209 0.241414 0.2753 0.2277 5008 , , NA 15264 0.2698 NA 0.1441 False NA ,,, NA NA NA 2504 0.2761 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF105201 CCDS6657.1 9q21 2008-05-23 ENSG00000156049 ENSG00000156049 9630 4382 protein-coding gene gene with protein product 604397 NA 10191087, 17620339 Standard NM_004297 NA Approved uc004aku.3 O95837 OTTHUMG00000020058 ENST00000341700.6:c.-391C>T chr9.hg19:g.80263100G>A NA B1ALW3 hg19 CCDS6657.1 0.02 3.783631 GGGxAGA COVERED NOVEL GNA14-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000052759.1 0 12.639204 KEEP 0 0 0 42 1444 GG 1 1 0 - 5 60 171 0 0 10.19104 131 60 4989 212 ENST00000341700.6 0.036765 1 TLE1 7088 __UNKNOWN__ __UNKNOWN__ 9 84248619 84248619 __UNKNOWN__ Intron SNP T T C rs11139350 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:84248619T>C ENST00000376499.3 - 8 1642 TLE1_ENST00000376472.1_Intron|TLE1_ENST00000376463.1_3'UTR NM_005077.3 NP_005068.2 Q04724 TLE1_HUMAN transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila) NA NA multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of gene expression (GO:0010628)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription factor binding (GO:0008134) NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 29 TAGTAACAGATGCAATTATCA 0.274 NA T||| 1223 0.244209 0.0991 0.1671 5008 , , NA 17113 0.3442 NA 0.2316 False NA ,,, NA NA NA 2504 0.4049 NA NA NA NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS6661.1 9q21.32 2013-01-10 2001-11-28 ENSG00000196781 ENSG00000196781 7088 WD repeat domain containing 11837 protein-coding gene gene with protein product enhancer of split groucho 1 600189 transducin-like enhancer of split 1, homolog of Drosophila E(sp1) NA 8365415, 8808280 Standard NM_005077 NM_005077 NA Approved ESG1, GRG1, ESG uc004aly.3 Q04724 OTTHUMG00000021008 ENST00000376499.3:c.578-340A>G chr9.hg19:g.84248619T>C NA A8K495|Q5T3G4|Q969V9 hg19 CCDS6661.1 0.02 21.327783 AGAxGCA COVERED NOVEL TLE1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055407.1 5 29.486169 KEEP 188 0 0 98 3040 TT 1 1 0 - 22 49 764 0 0 47.728462 497 50 18343 912 ENST00000376499.3 0.042389 1 FRMD3 257019 __UNKNOWN__ __UNKNOWN__ 9 85859648 85859648 __UNKNOWN__ 3'UTR SNP T T G rs1048228 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:85859648T>G ENST00000304195.3 - 0 5185 FRMD3_ENST00000328788.1_Intron|FRMD3_ENST00000376438.1_Intron|FRMD3_ENST00000376434.1_Intron NM_001244960.1|NM_174938.5 NP_001231889.1|NP_777598.3 A2A2Y4 FRMD3_HUMAN FERM domain containing 3 NA NA cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021) breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1) 30 AAGGCTCCAATCACAGTAACA 0.328 NA T||| 1229 0.245407 0.1165 0.1513 5008 , , NA 15858 0.5972 NA 0.1471 False NA ,,, NA NA NA 2504 0.2249 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK094281 CCDS43840.1, CCDS59131.1, CCDS59132.1, CCDS59133.1, CCDS75852.1 9q21.33 2008-02-05 ENSG00000172159 ENSG00000172159 257019 24125 protein-coding gene gene with protein product 607619 NA 12601556 Standard NM_174938 NM_174938 NA Approved EPB41L4O, MGC20553 uc004ams.2 A2A2Y4 OTTHUMG00000020103 ENST00000304195.3:c.*3185A>C chr9.hg19:g.85859648T>G NA A8MQB0|B4DN14|Q53EP2|Q5JV59|Q5VZA1|Q86WP8|Q8IZ44|Q8N3Y5|Q8N9L2 hg19 CCDS43840.1 0.02 17.115386 CAAxCAC COVERED NOVEL FRMD3-006 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000157355.1 4 11.43411 KEEP 0 0 0 38 1176 TT 1 1 0 - 15 60 578 0 0 38.016662 338 60 12395 464 ENST00000304195.3 0.042493 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 86263895 86263895 __UNKNOWN__ IGR SNP C C T rs113478140 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:86263895C>T NA NA IDNK (4857 upstream) : UBQLN1 (10982 downstream) NA NA NA ttagtagagacggggtttcac 0.602 NA C||| 503 0.100439 0.1051 0.1052 5008 , , NA 12766 0.0109 NA 0.1412 False NA ,,, NA NA NA 2504 0.1411 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.86263895C>T NA hg19 0.02 -0.035094 AGAxGGG UNCOVERED NOVEL 0 4 2.407691 KEEP 5 0 0 8 277 CC 0 0 0 4 40 151 0 0 17.008192 0 0 0 15 1 0.019982 UBQLN1 29979 __UNKNOWN__ __UNKNOWN__ 9 86284178 86284178 __UNKNOWN__ Silent SNP C C A rs1044175 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:86284178C>A ENST00000376395.4 - 7 1693 c.1170G>T c.(1168-1170)ctG>ctT p.L390L UBQLN1_ENST00000257468.7_Silent_p.L390L NM_013438.4|NM_053067.2 NP_038466.2|NP_444295.1 Q9UMX0 UBQL1_HUMAN ubiquilin 1 390 NA cellular response to hypoxia (GO:0071456)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|regulation of protein ubiquitination (GO:0031396)|response to endoplasmic reticulum stress (GO:0034976) cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|protein complex (GO:0043234) kinase binding (GO:0019900) breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1) 27 TGTTTTGCATCAGTTGTGGGT 0.393 NA A||| 3851 0.76897 0.857 0.7104 5008 , , NA 18442 0.8819 NA 0.6203 False NA ,,, NA NA NA 2504 0.728 NA NA NA Melanoma(186;1284 2073 12755 14558 18426) NA 0 A , 3672,734 300.7+/-286.5 1535,602,66 144 127 133 1170,1170 2 1 9 dbSNP_86 133 5389,3211 484.9+/-371.5 1691,2007,602 no coding-synonymous,coding-synonymous UBQLN1 NM_013438.4,NM_053067.2 , 3226,2609,668 AA,AC,CC 37.3372,16.6591,30.3322 , 390/590,390/562 86284178 9061,3945 2203 4300 6503 SO:0001819 synonymous_variant AF176069 CCDS6663.1, CCDS6664.1 9q22 2013-02-12 ENSG00000135018 ENSG00000135018 29979 Ubiquilin family 12508 protein-coding gene gene with protein product 605046 NA 9303440, 10807547 Standard NM_013438 NM_013438 NA Approved DSK2, PLIC-1, XDRP1, DA41 uc004amv.3 Q9UMX0 OTTHUMG00000020104 ENST00000376395.4:c.1170G>T chr9.hg19:g.86284178C>A NA Q5T6J5|Q5T6J9|Q8IXS9|Q8N2Q3|Q9H0T8|Q9H3R4|Q9HAZ5 hg19 CCDS6663.1 0.02 13.052137 CATxAGT COVERED 1637 0.7495421245421245 410 0.8333333333333334 263 0.7265193370165746 498 0.8706293706293706 466 0.6147757255936676 A 9.680 1.148963 0.21288 0.833409 0.626628 ENSG00000135018 ENST00000526134 . . . 5.72 1.98 0.26296 . . . . . . . . . . . 0.09310 P 0.9999999999999999 . . . . . . . . . . . . . . 5.881 0.18856 0.4008:0.3742:0.225:0.0 rs1044175;rs17323305;rs1044175 . . . L 10 . . X - 2 2 UBQLN1 85473998 1.000000 0.71417 0.997000 0.53966 0.987000 0.75469 0.900000 0.28431 -0.141000 0.11374 -0.256000 0.11100 TGA NOVEL UBQLN1-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000052834.1 0 10.437557 KEEP 0 3 89 66 2357 CC 1 1 0 - 15 60 543 0 0 35.493476 290 60 11230 469 ENST00000376395.4 0.04918 1 RP11-522I20.3 0 __UNKNOWN__ __UNKNOWN__ 9 86327898 86327898 __UNKNOWN__ RNA SNP C C T rs10119344 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:86327898C>T ENST00000531661.1 + 0 622 NA NA NA ggattttatacgacagccagt 0.433 NA T||| 3829 0.764577 0.8495 0.7089 5008 , , NA 20354 0.881 NA 0.6173 False NA ,,, NA NA NA 2504 0.7209 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000531661.1: chr9.hg19:g.86327898C>T NA hg19 0.02 8.357395 ATAxGAC COVERED NOVEL RP11-522I20.3-001 KNOWN basic|exp_conf antisense NA antisense OTTHUMT00000388652.1 2 15.985426 KEEP 0 1 31 64 2187 CC 1 1 0 + 10 60 358 0 0 22.994455 206 60 7251 371 ENST00000531661.1 0.046296 1 SLC28A3 64078 __UNKNOWN__ __UNKNOWN__ 9 86890931 86890931 __UNKNOWN__ 3'UTR SNP T T A rs11140489 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:86890931T>A ENST00000376238.4 - 0 4327 NM_001199633.1|NM_022127.2 NP_001186562.1|NP_071410.1 Q9HAS3 S28A3_HUMAN solute carrier family 28 (concentrative nucleoside transporter), member 3 NA NA pyrimidine nucleoside transport (GO:0015864)|transmembrane transport (GO:0055085) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) nucleoside binding (GO:0001882)|purine-specific nucleoside:sodium symporter activity (GO:0015390)|pyrimidine- and adenine-specific:sodium symporter activity (GO:0015389) endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 Adenosine(DB00640)|Cladribine(DB00242)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Ribavirin(DB00811) atcctatgaatctgctctgac 0.313 NA A||| 1030 0.205671 0.3434 0.2363 5008 , , NA 17197 0.1558 NA 0.1541 False NA ,,, NA NA NA 2504 0.1022 NA NA NA Ovarian(106;425 1539 34835 42413 43572) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF305210 CCDS6670.1 9q21.33 2013-07-17 2013-07-17 ENSG00000197506 ENSG00000197506 64078 Solute carriers 16484 protein-coding gene gene with protein product 608269 solute carrier family 28 (sodium-coupled nucleoside transporter), member 3 NA 11032837 Standard NM_022127 NM_001199633 NA Approved CNT3 uc010mpz.3 Q9HAS3 OTTHUMG00000020117 ENST00000376238.4:c.*2202A>T chr9.hg19:g.86890931T>A NA A8K9Y4|B1AML0|B2RA51|B4E2S8|F5GYE3 hg19 CCDS6670.1 0.02 11.164501 GAAxCTG COVERED NOVEL SLC28A3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000052874.1 1 12.035854 KEEP 0 0 0 40 1270 TT 1 1 0 - 18 60 637 0 0 43.229521 264 60 9715 395 ENST00000376238.4 0.06383 1 SLC28A3 64078 __UNKNOWN__ __UNKNOWN__ 9 86891594 86891594 __UNKNOWN__ 3'UTR SNP T T C rs10868133 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:86891594T>C ENST00000376238.4 - 0 3664 NM_001199633.1|NM_022127.2 NP_001186562.1|NP_071410.1 Q9HAS3 S28A3_HUMAN solute carrier family 28 (concentrative nucleoside transporter), member 3 NA NA pyrimidine nucleoside transport (GO:0015864)|transmembrane transport (GO:0055085) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) nucleoside binding (GO:0001882)|purine-specific nucleoside:sodium symporter activity (GO:0015390)|pyrimidine- and adenine-specific:sodium symporter activity (GO:0015389) endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 Adenosine(DB00640)|Cladribine(DB00242)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Ribavirin(DB00811) taataagaaatattttagtat 0.358 NA T||| 1024 0.204473 0.3427 0.2291 5008 , , NA 16401 0.1558 NA 0.1541 False NA ,,, NA NA NA 2504 0.1022 NA NA NA Ovarian(106;425 1539 34835 42413 43572) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF305210 CCDS6670.1 9q21.33 2013-07-17 2013-07-17 ENSG00000197506 ENSG00000197506 64078 Solute carriers 16484 protein-coding gene gene with protein product 608269 solute carrier family 28 (sodium-coupled nucleoside transporter), member 3 NA 11032837 Standard NM_022127 NM_001199633 NA Approved CNT3 uc010mpz.3 Q9HAS3 OTTHUMG00000020117 ENST00000376238.4:c.*1539A>G chr9.hg19:g.86891594T>C NA A8K9Y4|B1AML0|B2RA51|B4E2S8|F5GYE3 hg19 CCDS6670.1 0.02 4.705183 AAAxATT COVERED NOVEL SLC28A3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000052874.1 0 7.821954 KEEP 0 0 0 26 782 TT 0.999957 0.999956 0 - 7 60 241 0 0 16.034726 115 60 4205 177 ENST00000376238.4 0.057377 0.999999 SLC28A3 64078 __UNKNOWN__ __UNKNOWN__ 9 86892287 86892287 __UNKNOWN__ 3'UTR SNP G G A rs4877272 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:86892287G>A ENST00000376238.4 - 0 2971 NM_001199633.1|NM_022127.2 NP_001186562.1|NP_071410.1 Q9HAS3 S28A3_HUMAN solute carrier family 28 (concentrative nucleoside transporter), member 3 NA NA pyrimidine nucleoside transport (GO:0015864)|transmembrane transport (GO:0055085) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) nucleoside binding (GO:0001882)|purine-specific nucleoside:sodium symporter activity (GO:0015390)|pyrimidine- and adenine-specific:sodium symporter activity (GO:0015389) endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 Adenosine(DB00640)|Cladribine(DB00242)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Ribavirin(DB00811) ctaatggaatgtcatggaagt 0.438 NA G||| 1022 0.204073 0.3434 0.2291 5008 , , NA 21092 0.1558 NA 0.1511 False NA ,,, NA NA NA 2504 0.1022 NA NA NA Ovarian(106;425 1539 34835 42413 43572) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF305210 CCDS6670.1 9q21.33 2013-07-17 2013-07-17 ENSG00000197506 ENSG00000197506 64078 Solute carriers 16484 protein-coding gene gene with protein product 608269 solute carrier family 28 (sodium-coupled nucleoside transporter), member 3 NA 11032837 Standard NM_022127 NM_001199633 NA Approved CNT3 uc010mpz.3 Q9HAS3 OTTHUMG00000020117 ENST00000376238.4:c.*846C>T chr9.hg19:g.86892287G>A NA A8K9Y4|B1AML0|B2RA51|B4E2S8|F5GYE3 hg19 CCDS6670.1 0.02 5.73645 AATxTCA COVERED NOVEL SLC28A3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000052874.1 1 7.223467 KEEP 0 0 0 24 844 GG 0.999909 0.999909 0 - 11 60 389 0 0 25.73103 186 60 7055 259 ENST00000376238.4 0.055838 1 SLC28A3 64078 __UNKNOWN__ __UNKNOWN__ 9 86893071 86893071 __UNKNOWN__ 3'UTR SNP T T C rs7858075 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:86893071T>C ENST00000376238.4 - 0 2187 SLC28A3_ENST00000537648.1_3'UTR NM_001199633.1|NM_022127.2 NP_001186562.1|NP_071410.1 Q9HAS3 S28A3_HUMAN solute carrier family 28 (concentrative nucleoside transporter), member 3 NA NA pyrimidine nucleoside transport (GO:0015864)|transmembrane transport (GO:0055085) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) nucleoside binding (GO:0001882)|purine-specific nucleoside:sodium symporter activity (GO:0015390)|pyrimidine- and adenine-specific:sodium symporter activity (GO:0015389) endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 Adenosine(DB00640)|Cladribine(DB00242)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Ribavirin(DB00811) CTTTTTTTTTTCTTTCCAAAG 0.383 NA T||| 1025 0.204673 0.3427 0.2305 5008 , , NA 18792 0.1558 NA 0.1541 False NA ,,, NA NA NA 2504 0.1022 NA NA NA Ovarian(106;425 1539 34835 42413 43572) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF305210 CCDS6670.1 9q21.33 2013-07-17 2013-07-17 ENSG00000197506 ENSG00000197506 64078 Solute carriers 16484 protein-coding gene gene with protein product 608269 solute carrier family 28 (sodium-coupled nucleoside transporter), member 3 NA 11032837 Standard NM_022127 NM_001199633 NA Approved CNT3 uc010mpz.3 Q9HAS3 OTTHUMG00000020117 ENST00000376238.4:c.*62A>G chr9.hg19:g.86893071T>C NA A8K9Y4|B1AML0|B2RA51|B4E2S8|F5GYE3 hg19 CCDS6670.1 0.02 17.765811 TTTxCTT COVERED NOVEL SLC28A3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000052874.1 1 12.63649 KEEP 0 0 0 42 1299 TT 1 1 0 - 16 60 585 2 0 36.581162 408 60 14684 556 ENST00000376238.4 0.037736 1 SLC28A3 64078 __UNKNOWN__ __UNKNOWN__ 9 86917088 86917088 __UNKNOWN__ Intron SNP T T C rs4877836 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:86917088T>C ENST00000376238.4 - 5 574 SLC28A3_ENST00000537648.1_Intron NM_001199633.1|NM_022127.2 NP_001186562.1|NP_071410.1 Q9HAS3 S28A3_HUMAN solute carrier family 28 (concentrative nucleoside transporter), member 3 NA NA pyrimidine nucleoside transport (GO:0015864)|transmembrane transport (GO:0055085) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) nucleoside binding (GO:0001882)|purine-specific nucleoside:sodium symporter activity (GO:0015390)|pyrimidine- and adenine-specific:sodium symporter activity (GO:0015389) endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 Adenosine(DB00640)|Cladribine(DB00242)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Ribavirin(DB00811) CTCTCTTAACTGAAATAAGAG 0.403 NA T||| 654 0.130591 0.0756 0.2003 5008 , , NA 21043 0.1835 NA 0.1282 False NA ,,, NA NA NA 2504 0.1033 NA NA NA Ovarian(106;425 1539 34835 42413 43572) NA 0 T , 302,4104 165.4+/-196.9 15,272,1916 65 62 63 , -2.5 0 9 dbSNP_111 63 1124,7476 231.8+/-265.7 73,978,3249 no intron,intron SLC28A3 NM_001199633.1,NM_022127.2 , 88,1250,5165 CC,CT,TT 13.0698,6.8543,10.9642 , , 86917088 1426,11580 2203 4300 6503 SO:0001627 intron_variant AF305210 CCDS6670.1 9q21.33 2013-07-17 2013-07-17 ENSG00000197506 ENSG00000197506 64078 Solute carriers 16484 protein-coding gene gene with protein product 608269 solute carrier family 28 (sodium-coupled nucleoside transporter), member 3 NA 11032837 Standard NM_022127 NM_001199633 NA Approved CNT3 uc010mpz.3 Q9HAS3 OTTHUMG00000020117 ENST00000376238.4:c.524+26A>G chr9.hg19:g.86917088T>C NA A8K9Y4|B1AML0|B2RA51|B4E2S8|F5GYE3 hg19 CCDS6670.1 0.02 8.258247 AACxGAA COVERED NOVEL SLC28A3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000052874.1 0 8.725552 KEEP 0 0 0 29 909 TT 0.999997 0.999997 0 - 9 60 318 0 0 19.855569 207 60 7792 292 ENST00000376238.4 0.041667 1 SLC28A3 64078 __UNKNOWN__ __UNKNOWN__ 9 86920236 86920236 __UNKNOWN__ Silent SNP T T C rs7867504 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:86920236T>C ENST00000376238.4 - 4 316 c.267A>G c.(265-267)acA>acG p.T89T SLC28A3_ENST00000495823.1_5'UTR|SLC28A3_ENST00000537648.1_Silent_p.T20T NM_001199633.1|NM_022127.2 NP_001186562.1|NP_071410.1 Q9HAS3 S28A3_HUMAN solute carrier family 28 (concentrative nucleoside transporter), member 3 89 NA pyrimidine nucleoside transport (GO:0015864)|transmembrane transport (GO:0055085) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) nucleoside binding (GO:0001882)|purine-specific nucleoside:sodium symporter activity (GO:0015390)|pyrimidine- and adenine-specific:sodium symporter activity (GO:0015389) endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 Adenosine(DB00640)|Cladribine(DB00242)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Ribavirin(DB00811) AACCACATACTGTGTCATACC 0.398 NA C||| 2823 0.563698 0.8427 0.5764 5008 , , NA 19630 0.6002 NA 0.3211 False NA ,,, NA NA NA 2504 0.3896 NA NA NA Ovarian(106;425 1539 34835 42413 43572) NA 0 C , 3186,1220 422.1+/-339.6 1167,852,184 140 127 131 267,267 -7.4 0 9 dbSNP_116 131 2619,5981 688.4+/-404.3 391,1837,2072 no coding-synonymous,coding-synonymous SLC28A3 NM_001199633.1,NM_022127.2 , 1558,2689,2256 CC,CT,TT 30.4535,27.6895,44.6332 , 89/692,89/692 86920236 5805,7201 2203 4300 6503 SO:0001819 synonymous_variant AF305210 CCDS6670.1 9q21.33 2013-07-17 2013-07-17 ENSG00000197506 ENSG00000197506 64078 Solute carriers 16484 protein-coding gene gene with protein product 608269 solute carrier family 28 (sodium-coupled nucleoside transporter), member 3 NA 11032837 Standard NM_022127 NM_001199633 NA Approved CNT3 uc010mpz.3 Q9HAS3 OTTHUMG00000020117 ENST00000376238.4:c.267A>G chr9.hg19:g.86920236T>C NA A8K9Y4|B1AML0|B2RA51|B4E2S8|F5GYE3 hg19 CCDS6670.1 0.02 8.234953 TACxGTG COVERED NOVEL SLC28A3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000052874.1 2 12.335294 KEEP 0 0 0 41 1257 TT 1 1 0 - 10 60 343 0 0 21.224203 220 60 8314 338 ENST00000376238.4 0.043478 1 NTRK2 4915 __UNKNOWN__ __UNKNOWN__ 9 87492028 87492028 __UNKNOWN__ Intron SNP T T C rs6559833 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:87492028T>C ENST00000323115.4 + 12 1938 NTRK2_ENST00000376208.1_3'UTR|NTRK2_ENST00000304053.6_3'UTR|NTRK2_ENST00000277120.3_Intron|NTRK2_ENST00000376214.1_Intron|NTRK2_ENST00000376213.1_Intron Q16620 NTRK2_HUMAN neurotrophic tyrosine kinase, receptor, type 2 NA NA activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570) cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195) ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803) breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 46 Amitriptyline(DB00321) CACACTTTCCTTCTCGGATTG 0.423 NA TSP Lung(25;0.17) C||| 1675 0.334465 0.4917 0.3847 5008 , , NA 20699 0.2579 NA 0.1849 False NA ,,, NA NA NA 2504 0.319 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF410902 CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1 9q22.1 2013-01-11 ENSG00000148053 ENSG00000148053 4915 2.7.10.1 Immunoglobulin superfamily / I-set domain containing 8032 protein-coding gene gene with protein product 600456 NA 7789988 Standard NM_001018065 NA Approved TRKB uc004anz.1 Q16620 OTTHUMG00000020120 ENST00000323115.4:c.1585+9682T>C chr9.hg19:g.87492028T>C NA B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7 hg19 CCDS35050.1 0.02 7.104642 TCCxTCT COVERED NOVEL NTRK2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000052882.1 1 6.018433 KEEP 0 0 0 20 636 TT 0.999863 0.999863 0 + 14 60 522 0 0 37.214841 175 60 6354 233 ENST00000323115.4 0.074074 1 NAA35 60560 __UNKNOWN__ __UNKNOWN__ 9 88636887 88636887 __UNKNOWN__ 3'UTR SNP G G A rs7450 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:88636887G>A ENST00000361671.5 + 0 2323 NM_024635.3 NP_078911.3 Q5VZE5 NAA35_HUMAN N(alpha)-acetyltransferase 35, NatC auxiliary subunit NA NA negative regulation of apoptotic process (GO:0043066)|smooth muscle cell proliferation (GO:0048659) cytoplasm (GO:0005737)|NatC complex (GO:0031417) central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1) 25 AGAGACTGGGGAGGTGGCCAT 0.428 NA A||| 1865 0.372404 0.6483 0.3069 5008 , , NA 15498 0.369 NA 0.2048 False NA ,,, NA NA NA 2504 0.2219 NA NA NA NA 0 A 2550,1856 530.4+/-372.9 742,1066,395 68 65 66 0.5 0 9 dbSNP_52 66 1557,7043 743.1+/-407.2 143,1271,2886 no utr-3 NAA35 NM_024635.3 885,2337,3281 AA,AG,GG 18.1047,42.1244,31.5777 88636887 4107,8899 2203 4300 6503 SO:0001624 3_prime_UTR_variant AK025266 CCDS6673.1 9q22.1 2010-01-14 2010-01-14 2010-01-14 ENSG00000135040 ENSG00000135040 60560 N(alpha)-acetyltransferase subunits 24340 protein-coding gene gene with protein product MAK10 homolog, amino-acid N-acetyltransferase subunit (S. cerevisiae) MAK10 NA 14702039, 19660095 Standard NM_024635 NM_024635 NA Approved FLJ21613, FLJ22643, bA379P1.1 uc004aoi.4 Q5VZE5 OTTHUMG00000020131 ENST00000361671.5:c.*12G>A chr9.hg19:g.88636887G>A NA Q5VZE6|Q9H631|Q9H703 hg19 CCDS6673.1 0.02 27.615043 GGGxAGG COVERED NOVEL NAA35-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000052906.1 2 26.219857 KEEP 0 1 31 98 3452 GG 1 1 0 + 17 60 617 1 0 35.362242 659 60 24261 939 ENST00000361671.5 0.025148 1 GOLM1 51280 __UNKNOWN__ __UNKNOWN__ 9 88641941 88641941 __UNKNOWN__ 3'UTR SNP C C G rs60714833 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:88641941C>G ENST00000388712.3 - 0 2165 GOLM1_ENST00000388711.3_3'UTR NM_016548.3 NP_057632.2 Q8NBJ4 GOLM1_HUMAN golgi membrane protein 1 NA NA nucleus organization (GO:0006997)|regulation of lipid metabolic process (GO:0019216) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887) breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 17 CCCCTTTTGGCCTGTTTGTTT 0.428 NA C||| 568 0.113419 0.0703 0.0562 5008 , , NA 17948 0.3423 NA 0.004 False NA ,,, NA NA NA 2504 0.089 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF236056 CCDS35054.1 9q21.33 2012-12-13 2007-07-30 2007-07-30 ENSG00000135052 ENSG00000135052 51280 15451 protein-coding gene gene with protein product 606804 golgi phosphoprotein 2, chromosome 9 open reading frame 155 GOLPH2, C9orf155 NA 10831838, 18953438, 22542941 Standard NM_177937 NM_016548 NA Approved GP73, FLJ23608, bA379P1.3 uc004aol.3 Q8NBJ4 OTTHUMG00000020130 ENST00000388712.3:c.*791G>C chr9.hg19:g.88641941C>G NA Q6IAF4|Q9NRB9 hg19 CCDS35054.1 0.02 7.255551 TGGxCTG COVERED NOVEL GOLM1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000052904.2 1 12.940866 KEEP 0 0 0 43 1486 CC 1 1 0 - 7 60 270 0 0 17.638287 165 60 5937 235 ENST00000388712.3 0.040698 1 GOLM1 51280 __UNKNOWN__ __UNKNOWN__ 9 88651370 88651370 __UNKNOWN__ Missense_Mutation SNP T T C rs2297002 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:88651370T>C ENST00000388712.3 - 7 818 c.650A>G c.(649-651)cAc>cGc p.H217R GOLM1_ENST00000388711.3_Missense_Mutation_p.H217R|GOLM1_ENST00000257504.6_5'UTR NM_016548.3 NP_057632.2 Q8NBJ4 GOLM1_HUMAN golgi membrane protein 1 217 NA H -> R (in dbSNP:rs2297002). nucleus organization (GO:0006997)|regulation of lipid metabolic process (GO:0019216) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887) p.H217R(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 17 CACCTCTGTGTGTGGCAGGCC 0.577 NA C||| 1148 0.229233 0.4546 0.0879 5008 , , NA 18134 0.3492 NA 0.005 False NA ,,, NA NA NA 2504 0.1319 NA NA NA NA 1 Substitution - Missense(1) stomach(1) C ARG/HIS,ARG/HIS 1736,2670 647.9+/-398.6 351,1034,818 105 90 95 650,650 -3.2 0 9 dbSNP_100 95 49,8551 817.1+/-406.9 0,49,4251 yes missense,missense GOLM1 NM_016548.3,NM_177937.2 29,29 351,1083,5069 CC,CT,TT 0.5698,39.4008,13.7244 benign,benign 217/402,217/402 88651370 1785,11221 2203 4300 6503 SO:0001583 missense AF236056 CCDS35054.1 9q21.33 2012-12-13 2007-07-30 2007-07-30 ENSG00000135052 ENSG00000135052 51280 15451 protein-coding gene gene with protein product 606804 golgi phosphoprotein 2, chromosome 9 open reading frame 155 GOLPH2, C9orf155 NA 10831838, 18953438, 22542941 Standard NM_177937 NM_016548 NA Approved GP73, FLJ23608, bA379P1.3 uc004aol.3 Q8NBJ4 OTTHUMG00000020130 ENST00000388712.3:c.650A>G chr9.hg19:g.88651370T>C ENSP00000373364:p.His217Arg NA Q6IAF4|Q9NRB9 hg19 CCDS35054.1 0.02 3.795411 GTGxGTG COVERED 476 0.21794871794871795 203 0.41260162601626016 31 0.0856353591160221 237 0.4143356643356643 5 0.006596306068601583 C 3.673 -0.067038 0.07273 0.394008 0.005698 ENSG00000135052 ENST00000388712;ENST00000388711 T;T 0.40476 1.03;1.03 3.93 -3.2 0.05156 . 1.770890 0.02390 N 0.079638 T 0.00012 0.0000 N 0.08118 0 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.36311 -0.9753 9 0.25106 T 0.35 -0.044 8.6564 0.34066 0.0:0.0925:0.5461:0.3614 rs2297002;rs52804982;rs57362226;rs2297002 217 Q8NBJ4 GOLM1_HUMAN R 217 ENSP00000373364:H217R;ENSP00000373363:H217R ENSP00000373363:H217R H - 2 0 GOLM1 87841190 0.000000 0.05858 0.000000 0.03702 0.005000 0.04900 -0.416000 0.07097 -1.017000 0.03367 -1.163000 0.01768 CAC NOVEL GOLM1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000052904.2 3 10.833357 KEEP 0 0 0 36 1144 TT 0.999999 0.999994 0 - 7 60 232 0 0 15.176584 105 60 3832 178 ENST00000388712.3 0.0625 0.999995 ISCA1 81689 __UNKNOWN__ __UNKNOWN__ 9 88879957 88879957 __UNKNOWN__ 3'UTR SNP C C T rs9907 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:88879957C>T ENST00000375991.4 - 0 1461 NM_030940.3 NP_112202.2 Q9BUE6 ISCA1_HUMAN iron-sulfur cluster assembly 1 NA NA iron-sulfur cluster assembly (GO:0016226) mitochondrion (GO:0005739) iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198) endometrium(2)|large_intestine(1)|lung(4)|pancreas(1) 8 OV - Ovarian serous cystadenocarcinoma(323;5.4e-34)|Lung(182;0.0375) CTGCTACAAACCATTGTTTCA 0.313 NA C||| 1935 0.386382 0.5257 0.2997 5008 , , NA 17650 0.4732 NA 0.1789 False NA ,,, NA NA NA 2504 0.3834 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF038186 CCDS35056.1 9q22.1 2013-08-06 2013-08-06 2007-01-18 ENSG00000135070 ENSG00000135070 81689 28660 protein-coding gene gene with protein product 611006 HESB like domain containing 2, iron-sulfur cluster assembly 1 homolog (S. cerevisiae) HBLD2 NA 15262227, 22323289 Standard NM_030940 NM_030940 NA Approved MGC4276, ISA1, hIscA uc004aop.3 Q9BUE6 OTTHUMG00000020135 ENST00000375991.4:c.*1001G>A chr9.hg19:g.88879957C>T NA B3KP34|B4DJI5|Q8ND75|Q9BZR2 hg19 CCDS35056.1 0.02 8.273642 AAAxCAT COVERED NOVEL ISCA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000052914.1 2 6.922218 KEEP 0 0 0 23 786 CC 0.999892 0.999892 0 - 9 60 329 0 0 20.584672 228 60 8090 262 ENST00000375991.4 0.037975 1 ISCA1 81689 __UNKNOWN__ __UNKNOWN__ 9 88880262 88880262 __UNKNOWN__ 3'UTR SNP T T G rs7021024 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:88880262T>G ENST00000375991.4 - 0 1156 NM_030940.3 NP_112202.2 Q9BUE6 ISCA1_HUMAN iron-sulfur cluster assembly 1 NA NA iron-sulfur cluster assembly (GO:0016226) mitochondrion (GO:0005739) iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198) endometrium(2)|large_intestine(1)|lung(4)|pancreas(1) 8 OV - Ovarian serous cystadenocarcinoma(323;5.4e-34)|Lung(182;0.0375) agggaattgatggaggtgggc 0.512 NA G||| 1937 0.386781 0.5265 0.2997 5008 , , NA 14922 0.4732 NA 0.1789 False NA ,,, NA NA NA 2504 0.3845 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF038186 CCDS35056.1 9q22.1 2013-08-06 2013-08-06 2007-01-18 ENSG00000135070 ENSG00000135070 81689 28660 protein-coding gene gene with protein product 611006 HESB like domain containing 2, iron-sulfur cluster assembly 1 homolog (S. cerevisiae) HBLD2 NA 15262227, 22323289 Standard NM_030940 NM_030940 NA Approved MGC4276, ISA1, hIscA uc004aop.3 Q9BUE6 OTTHUMG00000020135 ENST00000375991.4:c.*696A>C chr9.hg19:g.88880262T>G NA B3KP34|B4DJI5|Q8ND75|Q9BZR2 hg19 CCDS35056.1 0.02 9.057359 TGAxGGA COVERED NOVEL ISCA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000052914.1 2 13.238892 KEEP 0 0 0 44 1368 TT 1 1 0 - 11 60 416 0 0 27.264258 239 60 8771 352 ENST00000375991.4 0.044 1 ZCCHC6 79670 __UNKNOWN__ __UNKNOWN__ 9 88941549 88941549 __UNKNOWN__ Intron SNP C C A rs791312 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:88941549C>A ENST00000375963.3 - 12 1781 ZCCHC6_ENST00000375960.2_Intron|ZCCHC6_ENST00000277141.6_Intron|ZCCHC6_ENST00000375961.2_Intron NM_001185059.1|NM_024617.3 NP_001171988.1|NP_078893.2 Q5VYS8 TUT7_HUMAN zinc finger, CCHC domain containing 6 NA NA RNA 3'-end processing (GO:0031123) poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270) breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 46 acaatgtcaccactgtaagat 0.418 NA A||| 2625 0.524161 0.562 0.4899 5008 , , NA 20016 0.4792 NA 0.5417 False NA ,,, NA NA NA 2504 0.5256 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL832026 CCDS35057.1, CCDS55323.1 9q21 2014-03-05 ENSG00000083223 ENSG00000083223 79670 Zinc fingers, CCHC domain containing 25817 protein-coding gene gene with protein product TUTase7 NA 11214970 Standard NM_024617 NM_001185059 NA Approved KIAA1711, FLJ13409, PAPD6, TUT7 uc004aoq.3 Q5VYS8 OTTHUMG00000020137 ENST00000375963.3:c.1609-1120G>T chr9.hg19:g.88941549C>A NA Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6 hg19 CCDS35057.1 0.02 3.911897 CACxACT COVERED NOVEL ZCCHC6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000052918.1 0 5.718696 KEEP 0 0 0 19 675 CC 0.99986 0.999852 0 - 7 60 248 0 0 16.828638 103 60 3928 134 ENST00000375963.3 0.063636 0.999993 ZCCHC6 79670 __UNKNOWN__ __UNKNOWN__ 9 88951838 88951838 __UNKNOWN__ Intron SNP C C T rs791320 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:88951838C>T ENST00000375963.3 - 10 1628 ZCCHC6_ENST00000375960.2_Intron|ZCCHC6_ENST00000375948.1_3'UTR|ZCCHC6_ENST00000277141.6_Intron|ZCCHC6_ENST00000375961.2_Intron NM_001185059.1|NM_024617.3 NP_001171988.1|NP_078893.2 Q5VYS8 TUT7_HUMAN zinc finger, CCHC domain containing 6 NA NA RNA 3'-end processing (GO:0031123) poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270) breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 46 GAGATGACTACTAGGTTCTGC 0.284 NA T||| 3099 0.61881 0.8238 0.5288 5008 , , NA 18971 0.5298 NA 0.5447 False NA ,,, NA NA NA 2504 0.5736 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL832026 CCDS35057.1, CCDS55323.1 9q21 2014-03-05 ENSG00000083223 ENSG00000083223 79670 Zinc fingers, CCHC domain containing 25817 protein-coding gene gene with protein product TUTase7 NA 11214970 Standard NM_024617 NM_001185059 NA Approved KIAA1711, FLJ13409, PAPD6, TUT7 uc004aoq.3 Q5VYS8 OTTHUMG00000020137 ENST00000375963.3:c.1455+495G>A chr9.hg19:g.88951838C>T NA Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6 hg19 CCDS35057.1 0.02 6.592684 CTAxTAG COVERED NOVEL ZCCHC6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000052918.1 1 12.038744 KEEP 0 0 0 40 1434 CC 1 1 0 - 8 60 299 0 0 19.527727 171 60 6473 260 ENST00000375963.3 0.044693 1 ZCCHC6 79670 __UNKNOWN__ __UNKNOWN__ 9 88959938 88959938 __UNKNOWN__ Silent SNP C C T rs791323 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:88959938C>T ENST00000375963.3 - 5 1123 c.951G>A c.(949-951)ctG>ctA p.L317L ZCCHC6_ENST00000375960.2_Silent_p.L317L|ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375947.1_Silent_p.L150L|ZCCHC6_ENST00000375961.2_Silent_p.L317L NM_001185059.1|NM_024617.3 NP_001171988.1|NP_078893.2 Q5VYS8 TUT7_HUMAN zinc finger, CCHC domain containing 6 317 NA RNA 3'-end processing (GO:0031123) poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270) breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 46 GTTTAATTTCCAGCCTCTGTT 0.383 NA T||| 3102 0.619409 0.8253 0.5288 5008 , , NA 19149 0.5308 NA 0.5447 False NA ,,, NA NA NA 2504 0.5736 NA NA NA NA 0 T ,, 3447,959 362.6+/-316.2 1346,755,102 143 130 134 951,951,951 2.7 1 9 dbSNP_86 134 4670,3930 548.2+/-385.3 1249,2172,879 no coding-synonymous,coding-synonymous,coding-synonymous ZCCHC6 NM_001185059.1,NM_001185074.1,NM_024617.3 ,, 2595,2927,981 TT,TC,CC 45.6977,21.7658,37.5903 ,, 317/1496,317/1260,317/1496 88959938 8117,4889 2203 4300 6503 SO:0001819 synonymous_variant AL832026 CCDS35057.1, CCDS55323.1 9q21 2014-03-05 ENSG00000083223 ENSG00000083223 79670 Zinc fingers, CCHC domain containing 25817 protein-coding gene gene with protein product TUTase7 NA 11214970 Standard NM_024617 NM_001185059 NA Approved KIAA1711, FLJ13409, PAPD6, TUT7 uc004aoq.3 Q5VYS8 OTTHUMG00000020137 ENST00000375963.3:c.951G>A chr9.hg19:g.88959938C>T NA Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6 hg19 CCDS35057.1 0.02 12.482803 TTCxAGC COVERED NOVEL ZCCHC6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000052918.1 1 21.06813 KEEP 0 0 0 70 2443 CC 1 1 0 - 13 60 478 0 0 30.523587 300 60 11135 447 ENST00000375963.3 0.041534 1 DAPK1 1612 __UNKNOWN__ __UNKNOWN__ 9 90258248 90258248 __UNKNOWN__ Intron SNP C C T rs3793657 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:90258248C>T ENST00000491893.1 + 10 991 DAPK1_ENST00000469640.2_Intron|DAPK1_ENST00000358077.5_Intron|DAPK1_ENST00000408954.3_Intron|DAPK1_ENST00000472284.1_Intron P53355 DAPK1_HUMAN death-associated protein kinase 1 NA NA apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310) actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737) ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674) breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1) 72 CTGCCTTTTTCCTCCCCGCCC 0.418 NA Chronic Lymphocytic Leukemia, Familial Clustering of T||| 2771 0.553315 0.8177 0.6052 5008 , , NA 14633 0.6151 NA 0.3738 False NA ,,, NA NA NA 2504 0.2802 NA NA NA NA 0 T 2660,1078 977,706,186 7 8 8 0 0 9 dbSNP_107 8 2933,5235 567,1799,1718 no intron DAPK1 NM_004938.2 1544,2505,1904 TT,TC,CC 35.9084,28.839,46.9763 90258248 5593,6313 1869 4084 5953 SO:0001627 intron_variant Familial Cancer Database Familial CLL X76104 CCDS43842.1 9q34.1 2013-01-10 ENSG00000196730 ENSG00000196730 1612 Ankyrin repeat domain containing 2674 protein-coding gene gene with protein product 600831 NA 8530096 Standard NM_004938 XM_005251757 NA Approved DAPK uc004apd.3 P53355 OTTHUMG00000020150 ENST00000491893.1:c.919-43C>T chr9.hg19:g.90258248C>T NA B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8 hg19 0.02 1.695532 TTTxCTC COVERED NOVEL DAPK1-011 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000356844.1 1 12.638716 KEEP 0 0 0 42 1362 CC 1 0.99911 0 + 4 60 141 0 0 9.752305 52 70 1902 134 ENST00000491893.1 0.071429 0.99911 DAPK1 1612 __UNKNOWN__ __UNKNOWN__ 9 90265015 90265015 __UNKNOWN__ Silent SNP C C T rs3818584 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:90265015C>T ENST00000491893.1 + 15 1681 c.1608C>T c.(1606-1608)gaC>gaT p.D536D DAPK1_ENST00000469640.2_Silent_p.D536D|DAPK1_ENST00000358077.5_Silent_p.D536D|DAPK1_ENST00000408954.3_Silent_p.D536D|DAPK1_ENST00000472284.1_Silent_p.D536D P53355 DAPK1_HUMAN death-associated protein kinase 1 536 NA apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310) actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737) ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674) breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1) 72 ATGGAGCCGACCTTAATGCTT 0.552 NA Chronic Lymphocytic Leukemia, Familial Clustering of C||| 1773 0.354034 0.1241 0.5432 5008 , , NA 16292 0.5784 NA 0.3748 False NA ,,, NA NA NA 2504 0.2781 NA NA NA NA 0 C 603,3323 46,511,1406 50 50 50 1608 1.6 0.9 9 dbSNP_107 50 3141,5141 587,1967,1587 no coding-synonymous DAPK1 NM_004938.2 633,2478,2993 TT,TC,CC 37.9256,15.3591,30.6684 536/1431 90265015 3744,8464 1963 4141 6104 SO:0001819 synonymous_variant Familial Cancer Database Familial CLL X76104 CCDS43842.1 9q34.1 2013-01-10 ENSG00000196730 ENSG00000196730 1612 Ankyrin repeat domain containing 2674 protein-coding gene gene with protein product 600831 NA 8530096 Standard NM_004938 XM_005251757 NA Approved DAPK uc004apd.3 P53355 OTTHUMG00000020150 ENST00000491893.1:c.1608C>T chr9.hg19:g.90265015C>T NA B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8 hg19 0.02 10.328799 CGAxCTT COVERED NOVEL DAPK1-011 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000356844.1 1 13.448577 KEEP 0 3 98 79 2760 CC 1 1 0 + 18 60 613 0 0 41.064667 257 60 9354 425 ENST00000491893.1 0.065455 1 DAPK1 1612 __UNKNOWN__ __UNKNOWN__ 9 90283509 90283509 __UNKNOWN__ Intron SNP C C T rs3750539 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:90283509C>T ENST00000491893.1 + 18 1996 DAPK1_ENST00000469640.2_Intron|DAPK1_ENST00000358077.5_Intron|DAPK1_ENST00000408954.3_Intron|DAPK1_ENST00000472284.1_Intron|DAPK1_ENST00000466188.1_Intron P53355 DAPK1_HUMAN death-associated protein kinase 1 NA NA apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310) actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737) ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674) breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1) 72 TTTTCTCCAACAGGACGGAAA 0.473 NA Chronic Lymphocytic Leukemia, Familial Clustering of C||| 250 0.0499201 0.0303 0.0461 5008 , , NA 23058 0.0903 NA 0.0646 False NA ,,, NA NA NA 2504 0.0225 NA NA NA NA 0 C 120,3774 2,116,1829 222 224 224 2.9 1 9 dbSNP_107 224 396,7902 10,376,3763 no intron DAPK1 NM_004938.2 12,492,5592 TT,TC,CC 4.7722,3.0817,4.2323 90283509 516,11676 1947 4149 6096 SO:0001627 intron_variant Familial Cancer Database Familial CLL X76104 CCDS43842.1 9q34.1 2013-01-10 ENSG00000196730 ENSG00000196730 1612 Ankyrin repeat domain containing 2674 protein-coding gene gene with protein product 600831 NA 8530096 Standard NM_004938 XM_005251757 NA Approved DAPK uc004apd.3 P53355 OTTHUMG00000020150 ENST00000491893.1:c.1924-3C>T chr9.hg19:g.90283509C>T NA B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8 hg19 0.02 8.820991 CAAxAGG COVERED NOVEL DAPK1-011 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000356844.1 2 21.670371 KEEP 0 0 0 72 2568 CC 1 1 0 + 9 60 329 0 0 20.881129 211 60 8109 353 ENST00000491893.1 0.040909 1 DAPK1 1612 __UNKNOWN__ __UNKNOWN__ 9 90283514 90283514 __UNKNOWN__ Silent SNP C C T rs3750538 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:90283514C>T ENST00000491893.1 + 18 1999 c.1926C>T c.(1924-1926)gaC>gaT p.D642D DAPK1_ENST00000469640.2_Silent_p.D642D|DAPK1_ENST00000358077.5_Silent_p.D642D|DAPK1_ENST00000408954.3_Silent_p.D642D|DAPK1_ENST00000472284.1_Silent_p.D642D|DAPK1_ENST00000466188.1_3'UTR P53355 DAPK1_HUMAN death-associated protein kinase 1 642 NA apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310) actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737) ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674) breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1) 72 TCCAACAGGACGGAAAGACGG 0.468 NA Chronic Lymphocytic Leukemia, Familial Clustering of T||| 242 0.0483227 0.0303 0.0447 5008 , , NA 23138 0.0873 NA 0.0606 False NA ,,, NA NA NA 2504 0.0225 NA NA NA NA 0 T 120,3788 2,116,1836 237 240 239 1926 3.6 1 9 dbSNP_107 239 397,7899 10,377,3761 no coding-synonymous DAPK1 NM_004938.2 12,493,5597 TT,TC,CC 4.7854,3.0706,4.2363 642/1431 90283514 517,11687 1954 4148 6102 SO:0001819 synonymous_variant Familial Cancer Database Familial CLL X76104 CCDS43842.1 9q34.1 2013-01-10 ENSG00000196730 ENSG00000196730 1612 Ankyrin repeat domain containing 2674 protein-coding gene gene with protein product 600831 NA 8530096 Standard NM_004938 XM_005251757 NA Approved DAPK uc004apd.3 P53355 OTTHUMG00000020150 ENST00000491893.1:c.1926C>T chr9.hg19:g.90283514C>T NA B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8 hg19 0.02 9.129491 GGAxGGA COVERED NOVEL DAPK1-011 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000356844.1 2 18.192823 KEEP 0 1 33 72 2486 CC 1 1 0 + 9 60 342 0 0 22.196393 210 60 7402 350 ENST00000491893.1 0.041096 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 90460839 90460839 __UNKNOWN__ IGR SNP A A G rs67615388 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:90460839A>G NA NA XXyac-YM21GA2.6 (8726 upstream) : XXyac-YM21GA2.3 (2188 downstream) NA NA NA TTGTGGACATACCTTCATGGG 0.453 NA .||| 628 0.125399 0.1891 0.0245 5008 , , NA 17638 0.2679 NA 0.0179 False NA ,,, NA NA NA 2504 0.0746 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.90460839A>G NA hg19 0.02 6.960636 CATxCCT COVERED NOVEL 0 0 5.715852 KEEP 0 0 0 19 578 AA 0.99986 0.99986 0 7 60 260 0 0 16.265158 187 60 6636 237 0.036082 1 SPATA31E1 286234 __UNKNOWN__ __UNKNOWN__ 9 90500405 90500405 __UNKNOWN__ Missense_Mutation SNP A A C rs7850542 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:90500405A>C ENST00000325643.5 + 4 1069 c.1003A>C c.(1003-1005)Acc>Ccc p.T335P NM_178828.4 NP_849150.3 Q6ZUB1 S31E1_HUMAN SPATA31 subfamily E, member 1 335 NA T -> P (in dbSNP:rs7850542). {ECO:0000269|PubMed:14702039}. cell differentiation (GO:0030154)|spermatogenesis (GO:0007283) integral component of membrane (GO:0016021) NA TCCCGACCACACCTCAGAGGC 0.607 NA .||| 3815 0.761781 0.9493 0.7205 5008 , , NA 17626 0.878 NA 0.5686 False NA ,,, NA NA NA 2504 0.6166 NA NA NA NA 0 C PRO/THR 3880,526 1715,450,38 51 54 53 1003 0.5 0 9 dbSNP_116 53 4657,3943 1278,2101,921 yes missense C9orf79 NM_178828.4 38 2993,2551,959 CC,CA,AA 45.8488,11.9383,34.3611 benign 335/1446 90500405 8537,4469 2203 4300 6503 SO:0001583 missense AK093185 CCDS6676.1 9q22.1-q22.2 2012-10-12 2012-10-12 2012-10-12 ENSG00000177992 ENSG00000177992 286234 26672 protein-coding gene gene with protein product chromosome 9 open reading frame 79, family with sequence similarity 75, member E1 C9orf79, FAM75E1 NA Standard NM_178828 NM_178828 NA Approved FLJ35866 uc004app.4 Q6ZUB1 OTTHUMG00000020157 ENST00000325643.5:c.1003A>C chr9.hg19:g.90500405A>C ENSP00000322640:p.Thr335Pro NA B2RPB1|Q5SQC9|Q8NA41|Q8ND27 hg19 CCDS6676.1 0.02 11.960905 CACxCCT COVERED 1645 0.7532051282051282 461 0.9369918699186992 256 0.7071823204419889 499 0.8723776223776224 429 0.5659630606860159 . 0.010 -1.795530 0.00617 0.880617 0.541512 ENSG00000177992 ENST00000325643 T 0.02944 4.1 2.72 0.534 0.17127 . 1.049360 0.07604 N 0.924180 T 0.00012 0.0000 N 0.00086 -2.195 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.27020 -1.0086 9 0.02654 T 1 . 3.2309 0.06747 0.4565:0.3991:0.0:0.1444 rs7850542;rs17536335;rs58031507;rs7850542 335 Q6ZUB1 CI079_HUMAN P 335 ENSP00000322640:T335P ENSP00000322640:T335P T + 1 0 C9orf79 89690225 0.000000 0.05858 0.001000 0.08648 0.001000 0.01503 -0.432000 0.06956 0.071000 0.16664 -0.224000 0.12420 ACC NOVEL SPATA31E1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000052954.2 2 8.457285 KEEP 0 1 37 41 1228 AA 1 1 0 + 11 60 362 0 0 20.755605 339 60 11797 494 ENST00000325643.5 0.031429 1 SPATA31E1 286234 __UNKNOWN__ __UNKNOWN__ 9 90503734 90503734 __UNKNOWN__ Silent SNP C C T rs12238266 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:90503734C>T ENST00000325643.5 + 4 4398 c.4332C>T c.(4330-4332)gcC>gcT p.A1444A NM_178828.4 NP_849150.3 Q6ZUB1 S31E1_HUMAN SPATA31 subfamily E, member 1 1444 NA cell differentiation (GO:0030154)|spermatogenesis (GO:0007283) integral component of membrane (GO:0016021) NA GGTGTCTTGCCTCCTGAACTA 0.567 NA .||| 458 0.0914537 0.0348 0.0692 5008 , , NA 19017 0.3214 NA 0.001 False NA ,,, NA NA NA 2504 0.0399 NA NA NA NA 0 C 97,4263 1,95,2084 13 15 15 4332 -1.2 0 9 dbSNP_120 15 6,8540 0,6,4267 yes coding-synonymous C9orf79 NM_178828.4 1,101,6351 TT,TC,CC 0.0702,2.2248,0.7981 1444/1446 90503734 103,12803 2180 4273 6453 SO:0001819 synonymous_variant AK093185 CCDS6676.1 9q22.1-q22.2 2012-10-12 2012-10-12 2012-10-12 ENSG00000177992 ENSG00000177992 286234 26672 protein-coding gene gene with protein product chromosome 9 open reading frame 79, family with sequence similarity 75, member E1 C9orf79, FAM75E1 NA Standard NM_178828 NM_178828 NA Approved FLJ35866 uc004app.4 Q6ZUB1 OTTHUMG00000020157 ENST00000325643.5:c.4332C>T chr9.hg19:g.90503734C>T NA B2RPB1|Q5SQC9|Q8NA41|Q8ND27 hg19 CCDS6676.1 0.02 19.821242 TGCxTCC COVERED NOVEL SPATA31E1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000052954.2 1 12.64107 KEEP 0 0 0 42 1507 CC 1 1 0 + 17 60 626 0 0 39.069992 447 60 16757 610 ENST00000325643.5 0.036638 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 90654133 90654133 __UNKNOWN__ IGR SNP A A G rs12685332 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:90654133A>G NA NA U6 (40883 upstream) : U3 (335050 downstream) NA NA NA ttcaattgctaaagtttgttt 0.358 NA .||| 383 0.0764776 0.0008 0.0908 5008 , , NA 22197 0.25 NA 0.001 False NA ,,, NA NA NA 2504 0.0675 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.90654133A>G NA hg19 0.02 6.253812 GCTxAAG COVERED NOVEL 0 5 3.909033 KEEP 0 0 0 13 389 AA 0.994391 0.994391 0 6 60 229 0 0 14.131845 189 60 6532 216 0.030769 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 90744786 90744786 __UNKNOWN__ IGR SNP T T A rs143478450 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:90744786T>A NA NA U6 (131536 upstream) : U3 (244397 downstream) NA NA NA ACTGCTGTCATGAGCCTCTCA 0.493 NA .||| 374 0.0746805 0.0015 0.0187 5008 , , NA 19766 0.3056 NA 0.0 False NA ,,, NA NA NA 2504 0.0521 NA NA NA NA 0 T LEU/MET 3,1381 0,3,689 78 64 69 3166 0.4 0 9 dbSNP_134 69 1,3181 0,1,1590 no missense FAM75C2 NM_001166137.1 15 0,4,2279 AA,AT,TT 0.0314,0.2168,0.0876 benign 1056/1135 90744786 4,4562 692 1591 2283 SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.90744786T>A NA hg19 0.02 15.995789 TCAxGAG COVERED NOVEL 0 2 9.929895 KEEP 25 0 0 33 1028 TT 0.999997 0.999997 0 15 49 573 0 0 37.278107 351 50 12979 508 0.040984 1 SHC3 53358 __UNKNOWN__ __UNKNOWN__ 9 91652414 91652414 __UNKNOWN__ Intron SNP A A T rs2282125|rs386736107 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:91652414A>T ENST00000375835.4 - 11 1963 SHC3_ENST00000375831.1_3'UTR NM_016848.5 NP_058544.3 Q92529 SHC3_HUMAN SHC (Src homology 2 domain containing) transforming protein 3 NA NA central nervous system development (GO:0007417)|epidermal growth factor receptor signaling pathway (GO:0007173)|insulin receptor signaling pathway (GO:0008286)|learning or memory (GO:0007611)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) cytosol (GO:0005829) signal transducer activity (GO:0004871) breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3) 28 AGTGCCAGGGATGGCCAACAT 0.423 NA A||| 2599 0.51897 0.1551 0.4856 5008 , , NA 17057 0.9792 NA 0.4533 False NA ,,, NA NA NA 2504 0.6278 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D84361 CCDS6681.1 9q22.1 2013-02-14 2005-05-24 ENSG00000148082 ENSG00000148082 53358 SH2 domain containing 18181 protein-coding gene gene with protein product 605263 src homology 2 domain containing transforming protein C3 NA 8808684 Standard NM_016848 NM_016848 NA Approved N-Shc, NSHC, SHCC uc004aqf.2 Q92529 OTTHUMG00000020179 ENST00000375835.4:c.1656+493T>A chr9.hg19:g.91652414A>T NA Q5T7I7|Q8TAP2|Q9UCX5 hg19 CCDS6681.1 0.02 28.193036 GGGxTGG COVERED NOVEL SHC3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000052986.1 3 26.178197 KEEP 0 0 0 87 2744 AA 1 1 0 - 19 60 661 0 0 37.529722 693 60 25563 972 ENST00000375835.4 0.026685 1 SEMA4D 10507 __UNKNOWN__ __UNKNOWN__ 9 91978636 91978636 __UNKNOWN__ Intron SNP T T C rs28743146 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:91978636T>C ENST00000420987.1 - 18 2539 SEMA4D_ENST00000420101.2_Intron|SEMA4D_ENST00000339861.4_Intron|SEMA4D_ENST00000469653.1_Intron|SEMA4D_ENST00000343780.4_Intron|SEMA4D_ENST00000455551.2_Intron NM_001142287.1 NP_001135759.1 Q92854 SEM4D_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D NA NA axon guidance (GO:0007411)|cell adhesion (GO:0007155)|immune response (GO:0006955)|leukocyte aggregation (GO:0070486)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ossification involved in bone maturation (GO:0043931)|positive regulation of cell migration (GO:0030335)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)|regulation of dendrite morphogenesis (GO:0048814)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220) extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) receptor activity (GO:0004872)|receptor binding (GO:0005102)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888) NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 34 AGGGTAACAGTGGGCATGGGA 0.468 NA T||| 31 0.0061901 0.0 0.0 5008 , , NA 23579 0.0308 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 77 70 73 NA NA 9 NA 91978636 2203 4300 6503 SO:0001627 intron_variant U60800 CCDS6685.1, CCDS47991.1 9q22-q31 2013-01-11 ENSG00000187764 ENSG00000187764 10507 Semaphorins, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 10732 protein-coding gene gene with protein product M-sema G 601866 chromosome 9 open reading frame 164 SEMAJ, C9orf164 NA 8876214, 8969198 Standard NM_006378 NM_006378 NA Approved CD100, coll-4, FLJ39737 uc004aqo.1 Q92854 OTTHUMG00000020185 ENST00000420987.1:c.2092+19A>G chr9.hg19:g.91978636T>C NA B2RPM6|Q7Z5S4|Q8N8B0 hg19 CCDS47991.1 0.02 4.095047 CAGxGGG COVERED NOVEL SEMA4D-203 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000402418.2 0 4.811732 KEEP 0 0 0 16 455 TT 0.997832 0.997832 0 - 5 60 189 1 0 11.828611 141 60 4947 178 ENST00000420987.1 0.034247 1 RP11-316P17.2 0 __UNKNOWN__ __UNKNOWN__ 9 92325084 92325084 __UNKNOWN__ lincRNA SNP G G A rs6559281 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:92325084G>A ENST00000444374.1 + 0 338 NA NA NA TACGTTTGGAGGGAGAAGCCT 0.408 NA A||| 3278 0.654553 0.5272 0.6571 5008 , , NA 23427 0.9643 NA 0.4543 False NA ,,, NA NA NA 2504 0.7117 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000444374.1: chr9.hg19:g.92325084G>A NA hg19 0.02 -0.359671 GGAxGGA COVERED NOVEL RP11-316P17.2-001 KNOWN basic|exp_conf lincRNA NA lincRNA OTTHUMT00000053003.1 1 3.009588 KEEP 0 0 0 10 334 GG 0.992708 0.882393 0 + 5 60 193 0 0 15.084056 36 60 1290 51 ENST00000444374.1 0.121951 0.888875 RP11-389K14.3 0 __UNKNOWN__ __UNKNOWN__ 9 93180331 93180331 __UNKNOWN__ lincRNA SNP A A G rs7046635 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:93180331A>G ENST00000425666.1 - 0 59 NA NA NA aactgatgacattaccttgtg 0.502 NA A||| 886 0.176917 0.4115 0.1369 5008 , , NA 23896 0.0804 NA 0.1074 False NA ,,, NA NA NA 2504 0.0593 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000425666.1: chr9.hg19:g.93180331A>G NA hg19 0.02 -0.087727 GACxTTA UNCOVERED NOVEL RP11-389K14.3-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000053009.1 0 3.3099 KEEP 5 0 0 11 344 AA 0 0 0 - 4 46 133 0 0 12.285036 6 60 231 28 ENST00000425666.1 0.4 0.099721 SYK 6850 __UNKNOWN__ __UNKNOWN__ 9 93658854 93658854 __UNKNOWN__ 3'UTR SNP A A G rs158688 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:93658854A>G ENST00000375754.4 + 0 3028 SYK_ENST00000375751.4_3'UTR|SYK_ENST00000375747.1_3'UTR|SYK_ENST00000375746.1_3'UTR NM_003177.5 NP_003168.2 P43405 KSYK_HUMAN spleen tyrosine kinase NA NA activation of JUN kinase activity (GO:0007257)|adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|B cell receptor signaling pathway (GO:0050853)|beta selection (GO:0043366)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|cell proliferation (GO:0008283)|cellular response to molecule of fungal origin (GO:0071226)|defense response to bacterium (GO:0042742)|enzyme linked receptor protein signaling pathway (GO:0007167)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte activation involved in immune response (GO:0002366)|leukocyte cell-cell adhesion (GO:0007159)|leukotriene biosynthetic process (GO:0019370)|lymph vessel development (GO:0001945)|macrophage activation involved in immune response (GO:0002281)|neutrophil activation involved in immune response (GO:0002283)|neutrophil chemotaxis (GO:0030593)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of bone resorption (GO:0045780)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of arachidonic acid secretion (GO:0090237)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of neutrophil degranulation (GO:0043313)|regulation of phagocytosis (GO:0050764)|regulation of platelet activation (GO:0010543)|regulation of platelet aggregation (GO:0090330)|regulation of superoxide anion generation (GO:0032928)|serotonin secretion by platelet (GO:0002554)|viral process (GO:0016032) B cell receptor complex (GO:0019815)|cytosol (GO:0005829)|early phagosome (GO:0032009)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101) ATP binding (GO:0005524)|integrin binding (GO:0005178)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716) breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2) 26 AGAGTTTCCAAAGAAAGTATT 0.483 NA T ETV6, ITK MDS, peripheral T-cell lymphoma A||| 1534 0.30631 0.2753 0.4035 5008 , , NA 19224 0.2688 NA 0.3539 False NA ,,, NA NA NA 2504 0.2689 NA NA NA Dom yes 9 9q22 6850 spleen tyrosine kinase L 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L28824 CCDS6688.1, CCDS47992.1 9q22 2013-02-14 ENSG00000165025 ENSG00000165025 6850 SH2 domain containing 11491 protein-coding gene gene with protein product 600085 NA 8082894, 1423621 Standard XM_005252147 NA Approved uc004aqz.3 P43405 OTTHUMG00000020200 ENST00000375754.4:c.*972A>G chr9.hg19:g.93658854A>G NA hg19 CCDS6688.1 0.02 7.042181 CCAxAGA COVERED NOVEL SYK-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000053018.1 2 6.01666 KEEP 0 0 0 20 594 AA 0.999863 0.999863 0 + 7 60 268 0 0 17.620476 155 60 5545 210 ENST00000375754.4 0.04321 1 SYK 6850 __UNKNOWN__ __UNKNOWN__ 9 93658978 93658978 __UNKNOWN__ 3'UTR SNP A A G rs158687 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:93658978A>G ENST00000375754.4 + 0 3152 SYK_ENST00000375751.4_3'UTR|SYK_ENST00000375747.1_3'UTR|SYK_ENST00000375746.1_3'UTR NM_003177.5 NP_003168.2 P43405 KSYK_HUMAN spleen tyrosine kinase NA NA activation of JUN kinase activity (GO:0007257)|adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|B cell receptor signaling pathway (GO:0050853)|beta selection (GO:0043366)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|cell proliferation (GO:0008283)|cellular response to molecule of fungal origin (GO:0071226)|defense response to bacterium (GO:0042742)|enzyme linked receptor protein signaling pathway (GO:0007167)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte activation involved in immune response (GO:0002366)|leukocyte cell-cell adhesion (GO:0007159)|leukotriene biosynthetic process (GO:0019370)|lymph vessel development (GO:0001945)|macrophage activation involved in immune response (GO:0002281)|neutrophil activation involved in immune response (GO:0002283)|neutrophil chemotaxis (GO:0030593)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of bone resorption (GO:0045780)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of arachidonic acid secretion (GO:0090237)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of neutrophil degranulation (GO:0043313)|regulation of phagocytosis (GO:0050764)|regulation of platelet activation (GO:0010543)|regulation of platelet aggregation (GO:0090330)|regulation of superoxide anion generation (GO:0032928)|serotonin secretion by platelet (GO:0002554)|viral process (GO:0016032) B cell receptor complex (GO:0019815)|cytosol (GO:0005829)|early phagosome (GO:0032009)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101) ATP binding (GO:0005524)|integrin binding (GO:0005178)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716) breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2) 26 ACTAATCCTCATCTTCATGTT 0.413 NA T ETV6, ITK MDS, peripheral T-cell lymphoma G||| 1240 0.247604 0.2753 0.3833 5008 , , NA 20789 0.1121 NA 0.33 False NA ,,, NA NA NA 2504 0.1687 NA NA NA Dom yes 9 9q22 6850 spleen tyrosine kinase L 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L28824 CCDS6688.1, CCDS47992.1 9q22 2013-02-14 ENSG00000165025 ENSG00000165025 6850 SH2 domain containing 11491 protein-coding gene gene with protein product 600085 NA 8082894, 1423621 Standard XM_005252147 NA Approved uc004aqz.3 P43405 OTTHUMG00000020200 ENST00000375754.4:c.*1096A>G chr9.hg19:g.93658978A>G NA hg19 CCDS6688.1 0.02 6.528783 CTCxTCT COVERED NOVEL SYK-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000053018.1 4 9.92874 KEEP 0 0 0 33 1020 AA 0.999998 0.999998 0 + 8 60 278 0 0 17.517282 167 60 6152 241 ENST00000375754.4 0.045714 1 SYK 6850 __UNKNOWN__ __UNKNOWN__ 9 93659034 93659034 __UNKNOWN__ 3'UTR SNP C C A rs10512203 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:93659034C>A ENST00000375754.4 + 0 3208 SYK_ENST00000375751.4_3'UTR|SYK_ENST00000375747.1_3'UTR|SYK_ENST00000375746.1_3'UTR NM_003177.5 NP_003168.2 P43405 KSYK_HUMAN spleen tyrosine kinase NA NA activation of JUN kinase activity (GO:0007257)|adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|B cell receptor signaling pathway (GO:0050853)|beta selection (GO:0043366)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|cell proliferation (GO:0008283)|cellular response to molecule of fungal origin (GO:0071226)|defense response to bacterium (GO:0042742)|enzyme linked receptor protein signaling pathway (GO:0007167)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte activation involved in immune response (GO:0002366)|leukocyte cell-cell adhesion (GO:0007159)|leukotriene biosynthetic process (GO:0019370)|lymph vessel development (GO:0001945)|macrophage activation involved in immune response (GO:0002281)|neutrophil activation involved in immune response (GO:0002283)|neutrophil chemotaxis (GO:0030593)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of bone resorption (GO:0045780)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of arachidonic acid secretion (GO:0090237)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of neutrophil degranulation (GO:0043313)|regulation of phagocytosis (GO:0050764)|regulation of platelet activation (GO:0010543)|regulation of platelet aggregation (GO:0090330)|regulation of superoxide anion generation (GO:0032928)|serotonin secretion by platelet (GO:0002554)|viral process (GO:0016032) B cell receptor complex (GO:0019815)|cytosol (GO:0005829)|early phagosome (GO:0032009)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101) ATP binding (GO:0005524)|integrin binding (GO:0005178)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716) breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2) 26 TTTGCTGTACCTCTTGAAAGT 0.413 NA T ETV6, ITK MDS, peripheral T-cell lymphoma C||| 577 0.115216 0.1702 0.2334 5008 , , NA 19318 0.0585 NA 0.0765 False NA ,,, NA NA NA 2504 0.0552 NA NA NA Dom yes 9 9q22 6850 spleen tyrosine kinase L 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L28824 CCDS6688.1, CCDS47992.1 9q22 2013-02-14 ENSG00000165025 ENSG00000165025 6850 SH2 domain containing 11491 protein-coding gene gene with protein product 600085 NA 8082894, 1423621 Standard XM_005252147 NA Approved uc004aqz.3 P43405 OTTHUMG00000020200 ENST00000375754.4:c.*1152C>A chr9.hg19:g.93659034C>A NA hg19 CCDS6688.1 0.02 4.643781 TACxTCT COVERED NOVEL SYK-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000053018.1 4 9.029433 KEEP 0 0 0 30 1077 CC 0.999997 0.999997 0 + 5 60 187 0 0 11.904326 124 60 4651 190 ENST00000375754.4 0.03876 1 NFIL3 4783 __UNKNOWN__ __UNKNOWN__ 9 94172975 94172975 __UNKNOWN__ Silent SNP C C T rs33973463 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:94172975C>T ENST00000297689.3 - 2 436 c.42G>A c.(40-42)gcG>gcA p.A14A NM_005384.2 NP_005375.2 Q16649 NFIL3_HUMAN nuclear factor, interleukin 3 regulated 14 NA cellular response to interleukin-4 (GO:0071353)|circadian rhythm (GO:0007623)|immune response (GO:0006955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366) nucleus (GO:0005634) DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714) endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1) 16 CATCAAGAGACGCCTGCTCCT 0.443 NA C||| 230 0.0459265 0.0174 0.0331 5008 , , NA 18459 0.0655 NA 0.0676 False NA ,,, NA NA NA 2504 0.0511 NA NA NA Esophageal Squamous(152;732 1832 10053 26981 51762) NA 0 C 126,4280 93.0+/-131.7 3,120,2080 91 90 90 42 -9.1 0 9 dbSNP_126 90 616,7984 158.6+/-212.1 23,570,3707 no coding-synonymous NFIL3 NM_005384.2 26,690,5787 TT,TC,CC 7.1628,2.8597,5.7051 14/463 94172975 742,12264 2203 4300 6503 SO:0001819 synonymous_variant X64318 CCDS6690.1 9q22 2013-01-10 ENSG00000165030 ENSG00000165030 4783 basic leucine zipper proteins 7787 protein-coding gene gene with protein product 605327 IL3BP1 NA 7565758, 1620116 Standard NM_005384 NM_005384 NA Approved E4BP4, NFIL3A, NF-IL3A uc004arh.3 Q16649 OTTHUMG00000020209 ENST00000297689.3:c.42G>A chr9.hg19:g.94172975C>T NA B2R9Y8|Q14211|Q6FGQ8|Q96HS0 hg19 CCDS6690.1 0.02 36.505612 AGAxGCC COVERED NOVEL NFIL3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053038.2 10 53.777187 KEEP 0 3 94 212 7233 CC 1 1 0 - 29 60 1074 0 0 66.282305 825 60 29375 1304 ENST00000297689.3 0.033958 1 IARS 3376 __UNKNOWN__ __UNKNOWN__ 9 94991202 94991202 __UNKNOWN__ Intron SNP T T C rs76631712 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:94991202T>C ENST00000375643.3 - 31 3676 IARS_ENST00000447699.2_Intron|IARS_ENST00000375629.3_Intron|IARS_ENST00000443024.2_Intron NM_013417.2 NP_038203.2 P41252 SYIC_HUMAN isoleucyl-tRNA synthetase NA NA gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822) breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 35 L-Isoleucine(DB00167) AAAAGTTGTATAGTACAACTG 0.448 NA T||| 78 0.0155751 0.0008 0.0 5008 , , NA 19588 0.0704 NA 0.006 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB209234 CCDS6694.1 9q21 2011-07-01 2007-02-26 ENSG00000196305 ENSG00000196305 3376 6.1.1.5 Aminoacyl tRNA synthetases / Class I 5330 protein-coding gene gene with protein product isoleucine tRNA ligase 1, cytoplasmic 600709 NA 8812440 Standard NM_002161 NM_002161 NA Approved ILRS, IARS1 uc004aru.4 P41252 OTTHUMG00000020219 ENST00000375643.3:c.3409+80A>G chr9.hg19:g.94991202T>C NA A8KAE9|Q5TCD0|Q7Z3T4|Q9H588 hg19 CCDS6694.1 0.02 22.326242 GTAxAGT COVERED NOVEL IARS-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053059.2 1 12.635772 KEEP 0 0 0 42 1272 TT 1 1 0 - 18 60 672 0 0 41.846671 501 60 18042 627 ENST00000375643.3 0.034682 1 NOL8 55035 __UNKNOWN__ __UNKNOWN__ 9 95059804 95059804 __UNKNOWN__ 3'UTR SNP A A G rs710163 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:95059804A>G ENST00000545558.1 - 0 4310 NOL8_ENST00000442668.2_3'UTR|NOL8_ENST00000358855.4_3'UTR nucleolar protein 8 NA NA endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1) 16 AAGGCTTCATATAAACCTTGC 0.313 NA G||| 3749 0.748602 0.9728 0.7392 5008 , , NA 19637 0.6885 NA 0.5239 False NA ,,, NA NA NA 2504 0.7454 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB109030 CCDS47993.1, CCDS59135.1 9q22.32 2013-02-12 2004-01-12 2004-01-14 ENSG00000198000 ENSG00000198000 55035 RNA binding motif (RRM) containing 23387 protein-coding gene gene with protein product 611534 chromosome 9 open reading frame 34 C9orf34 NA 12477932 Standard NM_017948 NM_017948 NA Approved FLJ20736, Nop132 uc022bjx.1 Q76FK4 OTTHUMG00000020221 ENST00000545558.1:c.*314T>C chr9.hg19:g.95059804A>G NA hg19 CCDS47993.1 0.02 6.671899 CATxTAA COVERED NOVEL NOL8-015 KNOWN alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000402684.1 0 15.342661 KEEP 0 0 0 51 1564 AA 1 1 0 - 6 60 224 0 0 13.995518 164 60 6066 266 ENST00000545558.1 0.035294 1 ZNF484 83744 __UNKNOWN__ __UNKNOWN__ 9 95608248 95608248 __UNKNOWN__ 3'UTR SNP C C G rs1040978|rs386736327 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:95608248C>G ENST00000395505.2 - 0 2805 ANKRD19P_ENST00000473204.1_RNA NM_001261459.1|NM_001261460.1 NP_001248388.1|NP_001248389.1 Q5JVG2 ZN484_HUMAN zinc finger protein 484 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2) 33 TGAATTTTTGCGGGTCAATAT 0.363 NA g||| 3617 0.722244 0.8744 0.6311 5008 , , NA 18227 0.7748 NA 0.5785 False NA ,,, NA NA NA 2504 0.6748 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK091203 CCDS35066.1, CCDS35067.1, CCDS59136.1 9q22.32 2013-01-08 ENSG00000127081 ENSG00000127081 83744 Zinc fingers, C2H2-type, - 23385 protein-coding gene gene with protein product NA Standard XM_046861 NM_001007101 NA Approved BA526D8.4, FLJ33884 uc004asu.2 Q5JVG2 OTTHUMG00000020236 ENST00000395505.2:c.*262G>C chr9.hg19:g.95608248C>G NA B1AL89|B4DRI2 hg19 CCDS35067.1 0.02 6.11381 TTGxGGG COVERED NOVEL ZNF484-201 KNOWN basic|CCDS protein_coding NA protein_coding 2 8.427593 KEEP 0 0 0 28 994 CC 0.999997 0.999997 0 - 6 60 216 0 0 13.45744 148 60 5377 210 ENST00000395505.2 0.038961 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 95676829 95676829 __UNKNOWN__ IGR SNP A A T rs78354436 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:95676829A>T NA NA ANKRD19P (25854 upstream) : FGD3 (32903 downstream) NA NA NA ACCTTCCTTGAAGCCTGGCCG 0.478 NA a||| 370 0.0738818 0.0023 0.0245 5008 , , NA 20044 0.2024 NA 0.0318 False NA ,,, NA NA NA 2504 0.1166 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.95676829A>T NA hg19 0.02 1.879757 TTGxAGC COVERED NOVEL 0 0 2.707774 KEEP 0 0 0 9 288 AA 0.99254 0.97682 0 5 60 171 0 0 12.130192 52 60 1878 90 0.087719 0.984161 FGD3 89846 __UNKNOWN__ __UNKNOWN__ 9 95768448 95768448 __UNKNOWN__ Missense_Mutation SNP G G A rs3802384 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:95768448G>A ENST00000375482.3 + 6 1319 c.823G>A c.(823-825)Gtc>Atc p.V275I FGD3_ENST00000337352.6_Missense_Mutation_p.V275I|FGD3_ENST00000416701.2_Missense_Mutation_p.V275I NM_001083536.1 NP_001077005.1 Q5JSP0 FGD3_HUMAN FYVE, RhoGEF and PH domain containing 3 275 DH. {ECO:0000255|PROSITE- ProRule:PRU00062}. NA V -> I (in dbSNP:rs3802384). {ECO:0000269|PubMed:15489334}. actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726) guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1) 17 TAAAGACGTCGTCCACAGCAT 0.498 NA G||| 469 0.0936502 0.0136 0.2219 5008 , , NA 18284 0.1627 NA 0.0358 False NA ,,, NA NA NA 2504 0.0992 NA NA NA NA 0 G ILE/VAL,ILE/VAL 55,4185 1,53,2066 47 50 49 823,823 -2.4 0 9 dbSNP_107 49 305,8175 8,289,3943 yes missense,missense FGD3 NM_001083536.1,NM_033086.2 29,29 9,342,6009 AA,AG,GG 3.5967,1.2972,2.8302 benign,benign 275/726,275/726 95768448 360,12360 2120 4240 6360 SO:0001583 missense AK000004 CCDS43849.1, CCDS69619.1 9q22 2013-01-10 2004-08-24 ENSG00000127084 ENSG00000127084 89846 Zinc fingers, FYVE domain containing, Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing 16027 protein-coding gene gene with protein product FGD1 family, member 3 NA 11214971 Standard NM_033086 NM_001083536 NA Approved FLJ00004, ZFYVE5 uc004asz.2 Q5JSP0 OTTHUMG00000021032 ENST00000375482.3:c.823G>A chr9.hg19:g.95768448G>A ENSP00000364631:p.Val275Ile NA F8W7P2|Q4VX84|Q7Z7D9|Q8N5G1 hg19 CCDS43849.1 0.02 6.869526 GTCxTCC COVERED 210 0.09615384615384616 11 0.022357723577235773 79 0.21823204419889503 97 0.16958041958041958 23 0.030343007915567283 G 0.799 -0.756015 0.03019 0.012972 0.035967 ENSG00000127084 ENST00000375482;ENST00000416701;ENST00000337352 T;T;T 0.62498 0.02;0.02;0.02 4.54 -2.44 0.06502 Dbl homology (DH) domain (5); 0.726645 0.11318 N 0.576321 T 0.00039 0.0001 N 0.05351 -0.065 0.09310 P 0.99999921179 B;B;B 0.24258 0.055;0.1;0.028 B;B;B 0.24006 0.03;0.036;0.05 T 0.12682 -1.0538 9 0.06625 T 0.88 . 11.9754 0.53089 0.2613:0.0:0.7387:0.0 rs3802384;rs17853045;rs52825230;rs3802384 275;275;275 Q5JSP0-2;F8W7P2;Q5JSP0 .;.;FGD3_HUMAN I 275 ENSP00000364631:V275I;ENSP00000413833:V275I;ENSP00000336914:V275I ENSP00000336914:V275I V + 1 0 FGD3 94808269 0.015000 0.18098 0.000000 0.03702 0.006000 0.05464 0.200000 0.17257 -0.506000 0.06558 -1.170000 0.01741 GTC NOVEL FGD3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000055493.1 0 11.736948 KEEP 0 0 0 39 1339 GG 1 1 0 + 8 60 300 0 0 20.075239 150 60 5437 241 ENST00000375482.3 0.050633 1 FGD3 89846 __UNKNOWN__ __UNKNOWN__ 9 95782667 95782667 __UNKNOWN__ Silent SNP C C T rs11790517 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:95782667C>T ENST00000375482.3 + 13 1951 c.1455C>T c.(1453-1455)ttC>ttT p.F485F FGD3_ENST00000337352.6_Silent_p.F485F|FGD3_ENST00000416701.2_Silent_p.F485F|FGD3_ENST00000538555.1_Silent_p.F88F NM_001083536.1 NP_001077005.1 Q5JSP0 FGD3_HUMAN FYVE, RhoGEF and PH domain containing 3 485 NA actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726) guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1) 17 GTGGCGCCTTCAGCCAGGATG 0.577 NA C||| 1414 0.282348 0.3812 0.3876 5008 , , NA 16496 0.2411 NA 0.2903 False NA ,,, NA NA NA 2504 0.1084 NA NA NA NA 0 C , 1536,2680 298,940,870 60 66 64 1455,1455 0.2 0 9 dbSNP_120 64 2352,6102 331,1690,2206 no coding-synonymous,coding-synonymous FGD3 NM_001083536.1,NM_033086.2 , 629,2630,3076 TT,TC,CC 27.8211,36.4326,30.6867 , 485/726,485/726 95782667 3888,8782 2108 4227 6335 SO:0001819 synonymous_variant AK000004 CCDS43849.1, CCDS69619.1 9q22 2013-01-10 2004-08-24 ENSG00000127084 ENSG00000127084 89846 Zinc fingers, FYVE domain containing, Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing 16027 protein-coding gene gene with protein product FGD1 family, member 3 NA 11214971 Standard NM_033086 NM_001083536 NA Approved FLJ00004, ZFYVE5 uc004asz.2 Q5JSP0 OTTHUMG00000021032 ENST00000375482.3:c.1455C>T chr9.hg19:g.95782667C>T NA F8W7P2|Q4VX84|Q7Z7D9|Q8N5G1 hg19 CCDS43849.1 0.02 8.367436 CTTxAGC COVERED NOVEL FGD3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000055493.1 1 19.26239 KEEP 0 0 0 64 2254 CC 1 1 0 + 9 60 334 0 0 20.886669 240 60 9054 384 ENST00000375482.3 0.036145 1 WNK2 65268 __UNKNOWN__ __UNKNOWN__ 9 96030392 96030392 __UNKNOWN__ Intron SNP G G T rs10761205 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:96030392G>T ENST00000297954.4 + 17 3913 WNK2_ENST00000395475.2_Intron|WNK2_ENST00000349097.3_Intron|WNK2_ENST00000427277.2_Intron|WNK2_ENST00000356055.3_Intron|WNK2_ENST00000395477.2_Intron NM_001282394.1 NP_001269323.1 Q9Y3S1 WNK2_HUMAN WNK lysine deficient protein kinase 2 NA NA intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021) cytoplasm (GO:0005737)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674) breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2) 54 GGCGTTTGATGAAAGTCCCCA 0.567 NA G||| 1970 0.393371 0.351 0.304 5008 , , NA 19916 0.4196 NA 0.3131 False NA ,,, NA NA NA 2504 0.5695 NA NA NA NA 0 G 1515,2885 261,993,946 43 35 38 -1.7 0 9 dbSNP_120 38 2580,6012 407,1766,2123 no intron WNK2 NM_006648.3 668,2759,3069 TT,TG,GG 30.0279,34.4318,31.5194 96030392 4095,8897 2200 4296 6496 SO:0001627 intron_variant AJ242724 CCDS75858.1 9q22.3 2008-02-05 2003-06-23 2005-01-22 ENSG00000165238 ENSG00000165238 65268 14542 protein-coding gene gene with protein product 606249 serologically defined colon cancer antigen 43 SDCCAG43, PRKWNK2 NA 9610721, 11571656 Standard NM_006648 NM_006648 NA Approved NY-CO-43, KIAA1760 uc004atj.3 Q9Y3S1 OTTHUMG00000020247 ENST00000297954.4:c.3913+45G>T chr9.hg19:g.96030392G>T NA Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4 hg19 0.02 6.088664 GATxAAA COVERED NOVEL WNK2-001 KNOWN basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000317359.1 1 6.62141 KEEP 0 0 0 22 771 GG 0.999879 0.999879 0 + 7 60 252 0 0 15.51237 184 60 6975 267 ENST00000297954.4 0.036649 1 WNK2 65268 __UNKNOWN__ __UNKNOWN__ 9 96055063 96055063 __UNKNOWN__ Silent SNP C C T rs41278286 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:96055063C>T ENST00000297954.4 + 23 5427 c.5427C>T c.(5425-5427)gaC>gaT p.D1809D WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000349097.3_Silent_p.D1421D|WNK2_ENST00000427277.2_Silent_p.D1384D|WNK2_ENST00000356055.3_Silent_p.D136D|WNK2_ENST00000395477.2_Silent_p.D1772D NM_001282394.1 NP_001269323.1 Q9Y3S1 WNK2_HUMAN WNK lysine deficient protein kinase 2 1809 NA intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021) cytoplasm (GO:0005737)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674) breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2) 54 CCCCACCCGACGTCTACCTGG 0.692 NA C||| 1965 0.392372 0.3487 0.2954 5008 , , NA 13856 0.4206 NA 0.3131 False NA ,,, NA NA NA 2504 0.5726 NA NA NA NA 0 C 1467,2891 252,963,964 15 15 15 5316 -1.8 0.9 9 dbSNP_127 15 2457,6027 393,1671,2178 no coding-synonymous WNK2 NM_006648.3 645,2634,3142 TT,TC,CC 28.9604,33.6622,30.556 1772/2218 96055063 3924,8918 2179 4242 6421 SO:0001819 synonymous_variant AJ242724 CCDS75858.1 9q22.3 2008-02-05 2003-06-23 2005-01-22 ENSG00000165238 ENSG00000165238 65268 14542 protein-coding gene gene with protein product 606249 serologically defined colon cancer antigen 43 SDCCAG43, PRKWNK2 NA 9610721, 11571656 Standard NM_006648 NM_006648 NA Approved NY-CO-43, KIAA1760 uc004atj.3 Q9Y3S1 OTTHUMG00000020247 ENST00000297954.4:c.5427C>T chr9.hg19:g.96055063C>T NA Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4 hg19 0.02 7.877741 CGAxGTC COVERED 777|777 0.3557692307692308|0.3557692307692308 176|176 0.35772357723577236|0.35772357723577236 105|105 0.2900552486187845|0.2900552486187845 256|256 0.44755244755244755|0.44755244755244755 240|240 0.316622691292876|0.316622691292876 C|C 0.625|0.625 -0.819743|-0.819743 0.02776|0.02776 0.336622|0.336622 0.289604|0.289604 ENSG00000165238|ENSG00000165238 ENST00000411624|ENST00000432730;ENST00000448251;ENST00000453718 .|. .|. .|. 5.39|5.39 -1.75|-1.75 0.08031|0.08031 .|. .|. .|. .|. .|. T|T 0.00012|0.00012 0.0000|0.0000 .|. .|. .|. 0.09310|0.09310 P|P 0.9999999999996005|0.9999999999996005 .|. .|. .|. .|. .|. .|. T|T 0.46005|0.46005 -0.9222|-0.9222 3|3 .|. .|. .|. .|. 11.3977|11.3977 0.49851|0.49851 0.0:0.3577:0.0:0.6423|0.0:0.3577:0.0:0.6423 rs41278286;rs57682323;rs61738874|rs41278286;rs57682323;rs61738874 .|. .|. .|. C|M 1376|1768;569;294 .|. .|. R|T +|+ 1|2 0|0 WNK2|WNK2 95094884|95094884 0.000000|0.000000 0.05858|0.05858 0.908000|0.908000 0.35775|0.35775 0.064000|0.064000 0.16182|0.16182 -2.297000|-2.297000 0.01141|0.01141 -0.195000|-0.195000 0.10382|0.10382 -1.010000|-1.010000 0.02471|0.02471 CGT|ACG NOVEL WNK2-001 KNOWN basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000317359.1 0 11.73659 KEEP 0 0 0 39 1321 CC 1 1 0 + 8 60 279 0 0 16.383165 240 60 8033 343 ENST00000297954.4 0.032258 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 97426576 97426576 __UNKNOWN__ IGR SNP A A G rs200674961|rs28436028 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:97426576A>G NA NA FBP1 (24045 upstream) : C9orf3 (62406 downstream) NA NA NA ggtggggtggagggtaattag 0.383 NA a||| 856 0.170927 0.1581 0.1527 5008 , , NA 18390 0.37 NA 0.0934 False NA ,,, NA NA NA 2504 0.0757 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.97426576A>G NA hg19 0.02 6.223357 TGGxGGG COVERED NOVEL 0 1 5.716835 KEEP 0 0 0 19 580 AA 0.99986 0.99986 0 6 60 208 0 0 12.680726 147 60 5420 193 0.039216 1 ERCC6L2 375748 __UNKNOWN__ __UNKNOWN__ 9 98691137 98691137 __UNKNOWN__ Missense_Mutation SNP T T C rs2274654 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:98691137T>C ENST00000288985.7 + 11 2080 c.1775T>C c.(1774-1776)gTc>gCc p.V592A ERCC6L2_ENST00000466840.1_3'UTR|ERCC6L2_ENST00000437817.1_Missense_Mutation_p.V403A NM_001010895.2 NP_001010895.1 Q5T890 ER6L2_HUMAN excision repair cross-complementation group 6-like 2 592 Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}. NA V -> A (in dbSNP:rs2274654). DNA repair (GO:0006281) cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634) ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677) NA ATTTGCCTTGTCTCTACAATG 0.284 NA T||| 1137 0.227037 0.1936 0.2637 5008 , , NA 15669 0.2639 NA 0.1332 False NA ,,, NA NA NA 2504 0.3047 NA NA NA NA 0 T ALA/VAL 793,3613 314.7+/-293.7 73,647,1483 97 90 93 1775 5.1 1 9 dbSNP_100 93 1316,7284 257.5+/-281.5 89,1138,3073 yes missense C9orf102 NM_001010895.2 64 162,1785,4556 CC,CT,TT 15.3023,17.9982,16.2156 probably-damaging 592/713 98691137 2109,10897 2203 4300 6503 SO:0001583 missense BC022957 CCDS35072.1 9q22.32 2014-03-07 2014-03-07 2012-03-30 ENSG00000182150 ENSG00000182150 375748 26922 protein-coding gene gene with protein product 615667 chromosome 9 open reading frame 102, excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2 C9orf102 NA Standard NM_001010895 NM_001010895 NA Approved FLJ37706, RAD26L uc004avt.4 Q5T890 OTTHUMG00000020289 ENST00000288985.7:c.1775T>C chr9.hg19:g.98691137T>C ENSP00000288985:p.Val592Ala NA A4D997|B2RTP8|Q49AM9|Q5T892|Q8N663|Q8N9D0|Q9NPM7 hg19 CCDS35072.1 0.02 6.576598 TTGxCTC COVERED 439 0.20100732600732601 86 0.17479674796747968 95 0.26243093922651933 152 0.26573426573426573 106 0.13984168865435356 T 23.1 4.377977 0.82682 0.179982 0.153023 ENSG00000182150 ENST00000405401;ENST00000288985;ENST00000437817;ENST00000426805 T;T;T 0.81078 -1.45;-1.45;-1.45 5.09 5.09 0.68999 Helicase, C-terminal (3); 0.000000 0.47455 D 0.000234 T 0.00039 0.0001 L 0.39147 1.195 0.09310 P 1.0 D;D;D 0.76494 0.993;0.996;0.999 P;D;D 0.70487 0.84;0.946;0.969 T 0.00647 -1.1628 9 0.87932 D 0 -14.9419 15.019 0.71613 0.0:0.0:0.0:1.0 rs2274654;rs52819942;rs58407137;rs2274654 403;274;592 Q5T890-2;F2Z2R4;Q5T890 .;.;RAD26_HUMAN A 274;592;403;79 ENSP00000288985:V592A;ENSP00000416286:V403A;ENSP00000395345:V79A ENSP00000288985:V592A V + 2 0 C9orf102 97730958 1.000000 0.71417 1.000000 0.80357 0.989000 0.77384 7.229000 0.78088 2.142000 0.66516 0.477000 0.44152 GTC NOVEL ERCC6L2-001 NOVEL basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000053247.2 0 9.027949 KEEP 0 0 0 30 989 TT 0.999997 0.999997 0 + 11 60 395 0 0 26.750038 170 60 6005 222 ENST00000288985.7 0.060773 1 ERCC6L2 375748 __UNKNOWN__ __UNKNOWN__ 9 98691257 98691257 __UNKNOWN__ Intron SNP G G A rs2274653 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:98691257G>A ENST00000288985.7 + 11 2089 ERCC6L2_ENST00000466840.1_Intron|ERCC6L2_ENST00000437817.1_Intron NM_001010895.2 NP_001010895.1 Q5T890 ER6L2_HUMAN excision repair cross-complementation group 6-like 2 NA NA DNA repair (GO:0006281) cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634) ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677) NA TTATTTAGAAGCAGCAAAAAT 0.254 NA G||| 1137 0.227037 0.1944 0.2622 5008 , , NA 16564 0.2639 NA 0.1332 False NA ,,, NA NA NA 2504 0.3047 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC022957 CCDS35072.1 9q22.32 2014-03-07 2014-03-07 2012-03-30 ENSG00000182150 ENSG00000182150 375748 26922 protein-coding gene gene with protein product 615667 chromosome 9 open reading frame 102, excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2 C9orf102 NA Standard NM_001010895 NM_001010895 NA Approved FLJ37706, RAD26L uc004avt.4 Q5T890 OTTHUMG00000020289 ENST00000288985.7:c.1784+111G>A chr9.hg19:g.98691257G>A NA A4D997|B2RTP8|Q49AM9|Q5T892|Q8N663|Q8N9D0|Q9NPM7 hg19 CCDS35072.1 0.02 1.910334 GAAxCAG COVERED NOVEL ERCC6L2-001 NOVEL basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000053247.2 4 6.320947 KEEP 0 0 0 21 776 GG 0.999869 0.999832 0 + 5 60 180 0 0 11.767698 95 60 3540 132 ENST00000288985.7 0.05 0.999962 ERCC6L2 375748 __UNKNOWN__ __UNKNOWN__ 9 98734891 98734891 __UNKNOWN__ De_novo_Start_OutOfFrame SNP A A T rs3780574 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:98734891A>T ENST00000407474.3 + 0 314 Q5T890 ER6L2_HUMAN excision repair cross-complementation group 6-like 2 NA NA DNA repair (GO:0006281) cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634) ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677) NA GACAAAAGAAATGGAATAATT 0.343 NA A||| 810 0.161741 0.1195 0.1988 5008 , , NA 18033 0.1577 NA 0.1113 False NA ,,, NA NA NA 2504 0.2485 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA BC022957 CCDS35072.1 9q22.32 2014-03-07 2014-03-07 2012-03-30 ENSG00000182150 ENSG00000182150 375748 26922 protein-coding gene gene with protein product 615667 chromosome 9 open reading frame 102, excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2 C9orf102 NA Standard NM_001010895 NM_001010895 NA Approved FLJ37706, RAD26L uc004avt.4 Q5T890 OTTHUMG00000020289 ENST00000407474.3:c.-200A>T chr9.hg19:g.98734891A>T NA A4D997|B2RTP8|Q49AM9|Q5T892|Q8N663|Q8N9D0|Q9NPM7 hg19 0.02 12.778875 GAAxTGG COVERED NOVEL ERCC6L2-201 KNOWN basic protein_coding NA protein_coding 2 16.549816 KEEP 0 0 0 55 1745 AA 1 1 0 + 11 60 379 0 0 22.665489 291 60 10568 391 ENST00000407474.3 0.036424 1 HSD17B3 3293 __UNKNOWN__ __UNKNOWN__ 9 99003264 99003264 __UNKNOWN__ Intron SNP C C T rs2066485 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:99003264C>T ENST00000375263.3 - 10 720 HSD17B3_ENST00000375262.2_Intron|HSD17B3_ENST00000464104.1_Intron NM_000197.1 NP_000188.1 P37058 DHB3_HUMAN hydroxysteroid (17-beta) dehydrogenase 3 NA NA androgen biosynthetic process (GO:0006702)|male genitalia development (GO:0030539)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370) endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231) testosterone 17-beta-dehydrogenase (NADP+) activity (GO:0047045) breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 13 Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214) AACACTCAAGCCCCCATCCCA 0.493 NA T||| 4355 0.869609 0.9909 0.8357 5008 , , NA 19344 0.8373 NA 0.8658 False NA ,,, NA NA NA 2504 0.7669 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS6716.1 9q22 2011-09-20 ENSG00000130948 ENSG00000130948 3293 1.1.1.62 Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3 5212 protein-coding gene gene with protein product short chain dehydrogenase/reductase family 12C, member 2 605573 NA 8075637, 19027726 Standard NM_000197 NM_000197 NA Approved SDR12C2 uc004awa.1 P37058 OTTHUMG00000020292 ENST00000375263.3:c.673-75G>A chr9.hg19:g.99003264C>T NA Q5U0Q6 hg19 CCDS6716.1 0.02 6.421743 AAGxCCC COVERED NOVEL HSD17B3-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053259.1 0 10.421916 KEEP 0 1 32 46 1563 CC 1 1 0 - 10 60 350 0 0 23.733972 143 60 5178 227 ENST00000375263.3 0.065359 1 HSD17B3 3293 __UNKNOWN__ __UNKNOWN__ 9 99013663 99013663 __UNKNOWN__ Intron SNP A A G rs408876 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:99013663A>G ENST00000375263.3 - 5 501 HSD17B3_ENST00000375262.2_Intron NM_000197.1 NP_000188.1 P37058 DHB3_HUMAN hydroxysteroid (17-beta) dehydrogenase 3 NA NA androgen biosynthetic process (GO:0006702)|male genitalia development (GO:0030539)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370) endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231) testosterone 17-beta-dehydrogenase (NADP+) activity (GO:0047045) breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 13 Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214) CAGAACCTGGATAAGAGGAAT 0.517 NA G||| 4344 0.867412 0.9826 0.8357 5008 , , NA 20480 0.8373 NA 0.8648 False NA ,,, NA NA NA 2504 0.7679 NA NA NA NA 0 G 4240,166 109.9+/-148.2 2041,158,4 62 56 58 -2.6 0 9 dbSNP_80 58 7209,1391 268.5+/-287.9 3016,1177,107 no intron HSD17B3 NM_000197.1 5057,1335,111 GG,GA,AA 16.1744,3.7676,11.9714 99013663 11449,1557 2203 4300 6503 SO:0001627 intron_variant CCDS6716.1 9q22 2011-09-20 ENSG00000130948 ENSG00000130948 3293 1.1.1.62 Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3 5212 protein-coding gene gene with protein product short chain dehydrogenase/reductase family 12C, member 2 605573 NA 8075637, 19027726 Standard NM_000197 NM_000197 NA Approved SDR12C2 uc004awa.1 P37058 OTTHUMG00000020292 ENST00000375263.3:c.453+36T>C chr9.hg19:g.99013663A>G NA Q5U0Q6 hg19 CCDS6716.1 0.02 6.850355 TGGxTAA COVERED NOVEL HSD17B3-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053259.1 2 6.051494 KEEP 0 1 34 32 1003 AA 0.999998 0.999998 0 - 9 60 332 0 0 21.898071 175 60 6214 239 ENST00000375263.3 0.048913 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 99547980 99547980 __UNKNOWN__ IGR SNP C C T rs60072763 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:99547980C>T NA NA ZNF510 (7642 upstream) : ZNF782 (30773 downstream) NA NA NA AATAGATGGACAAACCAGGAG 0.383 NA C||| 936 0.186901 0.4387 0.0562 5008 , , NA 16051 0.2073 NA 0.0258 False NA ,,, NA NA NA 2504 0.0838 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.99547980C>T NA hg19 0.02 12.829313 GGAxAAA COVERED NOVEL 0 0 19.262917 KEEP 0 0 0 64 2310 CC 1 1 0 10 60 375 0 0 22.967112 309 60 11615 469 0.031348 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 99548146 99548146 __UNKNOWN__ IGR SNP A A T rs28678226 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:99548146A>T NA NA ZNF510 (7808 upstream) : ZNF782 (30607 downstream) NA NA NA CAAACCCATTACTCTGCTACA 0.403 NA A||| 1102 0.220048 0.4387 0.0562 5008 , , NA 18053 0.3175 NA 0.0318 False NA ,,, NA NA NA 2504 0.1339 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.99548146A>T NA hg19 0.02 14.22679 ATTxCTC COVERED NOVEL 0 3 18.052194 KEEP 0 0 0 60 1839 AA 1 1 0 16 60 505 0 0 30.374247 347 60 11919 499 0.044077 1 ZNF782 158431 __UNKNOWN__ __UNKNOWN__ 9 99579100 99579100 __UNKNOWN__ 3'UTR SNP G G A rs10979152 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:99579100G>A ENST00000481138.1 - 0 3866 NM_001001662.1 NP_001001662.1 Q6ZMW2 ZN782_HUMAN zinc finger protein 782 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3) 33 Acute lymphoblastic leukemia(62;0.0527) CCTGTCTGATGAGGAAGACTT 0.393 NA G||| 284 0.0567093 0.0083 0.0173 5008 , , NA 18241 0.2083 NA 0.0129 False NA ,,, NA NA NA 2504 0.0389 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK131468 CCDS35075.1 9q22.33 2013-01-08 ENSG00000196597 ENSG00000196597 158431 Zinc fingers, C2H2-type, - 33110 protein-coding gene gene with protein product NA Standard NM_001001662 NM_001001662 NA Approved FLJ16636 uc004awp.1 Q6ZMW2 OTTHUMG00000020310 ENST00000481138.1:c.*1105C>T chr9.hg19:g.99579100G>A NA B2RNR0 hg19 CCDS35075.1 0.02 6.311865 GATxAGG COVERED NOVEL ZNF782-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000356810.1 3 10.835244 KEEP 0 0 0 36 1265 GG 0.999999 0.999999 0 - 7 60 225 0 0 13.373811 170 60 6462 240 ENST00000481138.1 0.039548 1 ZNF782 158431 __UNKNOWN__ __UNKNOWN__ 9 99580199 99580199 __UNKNOWN__ 3'UTR SNP A A G rs73654606 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:99580199A>G ENST00000481138.1 - 0 2767 ZNF782_ENST00000535338.1_3'UTR NM_001001662.1 NP_001001662.1 Q6ZMW2 ZN782_HUMAN zinc finger protein 782 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3) 33 Acute lymphoblastic leukemia(62;0.0527) CTTTATATGCATACATTTAAT 0.383 NA A||| 930 0.185703 0.4334 0.0562 5008 , , NA 17696 0.2083 NA 0.0258 False NA ,,, NA NA NA 2504 0.0838 NA NA NA NA 0 A 1656,2748 490.4+/-361.8 310,1036,856 54 58 57 0.4 0 9 dbSNP_130 57 166,8434 74.8+/-137.4 0,166,4134 no utr-3 ZNF782 NM_001001662.1 310,1202,4990 GG,GA,AA 1.9302,37.6022,14.0111 99580199 1822,11182 2202 4300 6502 SO:0001624 3_prime_UTR_variant AK131468 CCDS35075.1 9q22.33 2013-01-08 ENSG00000196597 ENSG00000196597 158431 Zinc fingers, C2H2-type, - 33110 protein-coding gene gene with protein product NA Standard NM_001001662 NM_001001662 NA Approved FLJ16636 uc004awp.1 Q6ZMW2 OTTHUMG00000020310 ENST00000481138.1:c.*6T>C chr9.hg19:g.99580199A>G NA B2RNR0 hg19 CCDS35075.1 0.02 20.392522 TGCxTAC COVERED NOVEL ZNF782-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000356810.1 2 24.972486 KEEP 0 0 0 83 2596 AA 1 1 0 - 21 60 730 0 0 44.390875 525 60 19477 741 ENST00000481138.1 0.038462 1 ZNF782 158431 __UNKNOWN__ __UNKNOWN__ 9 99581811 99581811 __UNKNOWN__ Missense_Mutation SNP C C T rs4645656 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:99581811C>T ENST00000481138.1 - 6 1155 c.494G>A c.(493-495)cGt>cAt p.R165H ZNF782_ENST00000535338.1_Missense_Mutation_p.R33H|ZNF782_ENST00000466833.1_5'UTR NM_001001662.1 NP_001001662.1 Q6ZMW2 ZN782_HUMAN zinc finger protein 782 165 NA R -> H (in dbSNP:rs4645656). regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) p.R165H(1) NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3) 33 Acute lymphoblastic leukemia(62;0.0527) ACAAACATTACGCTCATGAGC 0.433 NA T||| 1364 0.272364 0.6271 0.0735 5008 , , NA 17730 0.3185 NA 0.0318 False NA ,,, NA NA NA 2504 0.1339 NA NA NA NA 1 Substitution - Missense(1) stomach(1) T HIS/ARG 2402,2004 559.9+/-380.3 661,1080,462 83 85 84 494 -4 0 9 dbSNP_111 84 176,8424 811.3+/-407.1 1,174,4125 yes missense ZNF782 NM_001001662.1 29 662,1254,4587 TT,TC,CC 2.0465,45.4834,19.8216 benign 165/700 99581811 2578,10428 2203 4300 6503 SO:0001583 missense AK131468 CCDS35075.1 9q22.33 2013-01-08 ENSG00000196597 ENSG00000196597 158431 Zinc fingers, C2H2-type, - 33110 protein-coding gene gene with protein product NA Standard NM_001001662 NM_001001662 NA Approved FLJ16636 uc004awp.1 Q6ZMW2 OTTHUMG00000020310 ENST00000481138.1:c.494G>A chr9.hg19:g.99581811C>T ENSP00000419397:p.Arg165His NA B2RNR0 hg19 CCDS35075.1 0.02 11.177794 TTAxGCT COVERED 548 0.2509157509157509 303 0.6158536585365854 27 0.07458563535911603 192 0.3356643356643357 26 0.03430079155672823 T 5.842 0.339619 0.11069 0.545166 0.020465 ENSG00000196597 ENST00000481138;ENST00000535338;ENST00000478850 T;T;T 0.05996 3.53;3.36;5.86 3.38 -4.0 0.04057 . . . . . T 0.00012 0.0000 N 0.14661 0.345 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.34254 -0.9836 8 0.17369 T 0.5 . 3.2255 0.06730 0.1753:0.4618:0.0921:0.2708 rs4645656;rs52822922;rs4645656 165 Q6ZMW2 ZN782_HUMAN H 165;33;165 ENSP00000419397:R165H;ENSP00000440624:R33H;ENSP00000417577:R165H ENSP00000417577:R165H R - 2 0 ZNF782 98621632 0.000000 0.05858 0.000000 0.03702 0.089000 0.18198 -0.145000 0.10265 -1.320000 0.02283 -0.987000 0.02553 CGT NOVEL ZNF782-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000356810.1 3 13.842415 KEEP 0 0 0 46 1576 CC 1 1 0 - 12 60 456 0 0 29.596882 280 60 9817 411 ENST00000481138.1 0.041096 1 ZNF782 158431 __UNKNOWN__ __UNKNOWN__ 9 99581916 99581916 __UNKNOWN__ Missense_Mutation SNP C C G rs7870376 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:99581916C>G ENST00000481138.1 - 6 1050 c.389G>C c.(388-390)cGt>cCt p.R130P ZNF782_ENST00000535338.1_5'UTR|ZNF782_ENST00000466833.1_5'UTR NM_001001662.1 NP_001001662.1 Q6ZMW2 ZN782_HUMAN zinc finger protein 782 130 NA R -> P (in dbSNP:rs7870376). regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) p.R130P(1) NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3) 33 Acute lymphoblastic leukemia(62;0.0527) CATTCTTGCACGAAAAATGTT 0.408 NA G||| 1095 0.21865 0.4327 0.0562 5008 , , NA 18031 0.3185 NA 0.0318 False NA ,,, NA NA NA 2504 0.1339 NA NA NA NA 1 Substitution - Missense(1) stomach(1) G PRO/ARG 1660,2746 656.5+/-400.1 314,1032,857 111 114 113 389 2.5 0.1 9 dbSNP_116 113 173,8427 810.5+/-407.1 1,171,4128 yes missense ZNF782 NM_001001662.1 103 315,1203,4985 GG,GC,CC 2.0116,37.6759,14.0935 benign 130/700 99581916 1833,11173 2203 4300 6503 SO:0001583 missense AK131468 CCDS35075.1 9q22.33 2013-01-08 ENSG00000196597 ENSG00000196597 158431 Zinc fingers, C2H2-type, - 33110 protein-coding gene gene with protein product NA Standard NM_001001662 NM_001001662 NA Approved FLJ16636 uc004awp.1 Q6ZMW2 OTTHUMG00000020310 ENST00000481138.1:c.389G>C chr9.hg19:g.99581916C>G ENSP00000419397:p.Arg130Pro NA B2RNR0 hg19 CCDS35075.1 0.02 12.647187 GCAxGAA COVERED 456 0.2087912087912088 216 0.43902439024390244 21 0.058011049723756904 193 0.3374125874125874 26 0.03430079155672823 G 0.016 -1.539349 0.00942 0.376759 0.020116 ENSG00000196597 ENST00000481138;ENST00000478850 T;T 0.04406 3.63;5.83 3.38 2.47 0.30058 . 0.521506 0.14454 N 0.318568 T 0.00012 0.0000 N 0.00980 -1.08 0.36406 P 0.13659200000000005 B 0.02656 0.0 B 0.01281 0.0 T 0.43458 -0.9390 9 0.02654 T 1 . 2.2802 0.04112 0.1092:0.198:0.4882:0.2046 rs7870376;rs61695664;rs7870376 130 Q6ZMW2 ZN782_HUMAN P 130 ENSP00000419397:R130P;ENSP00000417577:R130P ENSP00000417577:R130P R - 2 0 ZNF782 98621737 0.006000 0.16342 0.055000 0.19348 0.061000 0.15899 0.814000 0.27239 0.440000 0.26502 -0.126000 0.14955 CGT NOVEL ZNF782-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000356810.1 2 11.135686 KEEP 0 0 0 37 1273 CC 1 1 0 - 11 60 428 0 0 28.251552 250 60 8752 347 ENST00000481138.1 0.042146 1 CTSV 1515 __UNKNOWN__ __UNKNOWN__ 9 99797760 99797760 __UNKNOWN__ Intron SNP A A G rs7875800 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:99797760A>G ENST00000259470.5 - 6 1037 CTSV_ENST00000538255.1_Intron NM_001333.3 NP_001324.2 O60911 CATL2_HUMAN cathepsin V NA NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|autophagic cell death (GO:0048102)|catagen (GO:0042637)|cellular response to starvation (GO:0009267)|decidualization (GO:0046697)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|multicellular organismal aging (GO:0010259)|negative regulation of keratinocyte proliferation (GO:0010839)|nerve development (GO:0021675)|protein autoprocessing (GO:0016540)|regulation of actin cytoskeleton reorganization (GO:2000249)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to gonadotropin (GO:0034698)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283) cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|perikaryon (GO:0043204) aminopeptidase activity (GO:0004177)|cysteine-type carboxypeptidase activity (GO:0016807)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|peptide binding (GO:0042277) NA AATCAATCACAGTGATGCTTC 0.378 NA .||| 1857 0.370807 0.5371 0.1888 5008 , , NA 19710 0.5387 NA 0.1561 False NA ,,, NA NA NA 2504 0.3231 NA NA NA NA 0 G , 2273,2133 564.8+/-381.5 608,1057,538 33 33 33 , 1.3 0 9 dbSNP_116 33 1246,7354 751.0+/-407.4 89,1068,3143 no intron,intron CTSL2 NM_001201575.1,NM_001333.3 , 697,2125,3681 GG,GA,AA 14.4884,48.4113,27.0567 , , 99797760 3519,9487 2203 4300 6503 SO:0001627 intron_variant Y14734 CCDS6723.1 9q22.33 2013-06-27 2013-06-27 2013-06-27 ENSG00000136943 ENSG00000136943 1515 Cathepsins 2538 protein-coding gene gene with protein product 603308 cathepsin L2 CTSL2 NA 9563472, 10029531 Standard NM_001333 NM_001201575 NA Approved CTSU uc004awt.3 O60911 OTTHUMG00000020314 ENST00000259470.5:c.787+49T>C chr9.hg19:g.99797760A>G NA O60233|Q2TB86|Q5T1U0 hg19 CCDS6723.1 0.02 5.522642 CACxGTG COVERED NOVEL CTSV-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053301.2 1 4.815006 KEEP 0 0 0 16 515 AA 0.997832 0.997832 0 - 11 60 356 0 0 22.995666 165 60 6054 205 ENST00000259470.5 0.0625 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 99832632 99832632 __UNKNOWN__ IGR SNP T T C rs12376575 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:99832632T>C NA NA CTSV (30707 upstream) : RP11-520B13.4 (5320 downstream) NA NA NA CTGTGGGCTATAGCAAGTAGC 0.348 NA .||| 1103 0.220248 0.1316 0.1599 5008 , , NA 20565 0.4425 NA 0.1372 False NA ,,, NA NA NA 2504 0.2393 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.99832632T>C NA hg19 0.02 4.2208 CTAxAGC COVERED NOVEL 0 2 3.00775 KEEP 0 0 0 10 294 TT 0.992708 0.992708 0 7 60 265 0 0 17.707238 136 60 4986 180 0.048951 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 99884531 99884531 __UNKNOWN__ IGR SNP C C T rs117913913 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:99884531C>T NA NA RP11-520B13.4 (40304 upstream) : RNU6-798P (70673 downstream) NA NA NA ACACTGCAGGCGTGTCCCGAA 0.468 NA C||| 299 0.0597045 0.0015 0.0101 5008 , , NA 19682 0.1389 NA 0.0378 False NA ,,, NA NA NA 2504 0.1145 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.99884531C>T NA hg19 0.02 14.622815 AGGxGTG COVERED NOVEL 0 3 13.844269 KEEP 0 0 0 46 1585 CC 1 1 0 13 60 429 0 0 25.010289 340 60 11780 482 0.036827 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 99884789 99884789 __UNKNOWN__ IGR SNP C C T rs13290939 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:99884789C>T NA NA RP11-520B13.4 (40562 upstream) : RNU6-798P (70415 downstream) NA NA NA GTGGTTTGTACGACCTGGCAG 0.313 NA c||| 1651 0.329673 0.09 0.5259 5008 , , NA 20005 0.2857 NA 0.5169 False NA ,,, NA NA NA 2504 0.3671 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.99884789C>T NA hg19 0.02 12.203683 GTAxGAC COVERED NOVEL 0 1 5.116676 KEEP 0 0 0 17 605 CC 0.999366 0.999366 0 10 60 370 0 0 22.125486 335 60 11656 423 0.028986 1 RP11-498P14.3 0 __UNKNOWN__ __UNKNOWN__ 9 99959667 99959667 __UNKNOWN__ lincRNA SNP C C T rs116109586 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:99959667C>T ENST00000416066.1 - 0 168 NA NA NA CTGACCCGCCCTAGCTTCTCC 0.348 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000416066.1: chr9.hg19:g.99959667C>T NA hg19 0.02 33.798105 GCCxTAG COVERED NOVEL RP11-498P14.3-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000053307.1 5 22.573886 KEEP 7 0 0 75 2711 CC 1 1 0 - 25 49 939 1 0 57.542137 775 50 29092 1078 ENST00000416066.1 0.03125 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 99983513 99983513 __UNKNOWN__ IGR SNP C C T rs7869959 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:99983513C>T NA NA RP11-498P14.3 (23544 upstream) : RP11-498P14.4 (11969 downstream) NA NA NA GAAGAGTTTCCTCATGGTGGC 0.642 NA C||| 2337 0.466653 0.6316 0.3112 5008 , , NA 11795 0.3671 NA 0.504 False NA ,,, NA NA NA 2504 0.4182 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.99983513C>T NA hg19 0.02 4.596526 TTCxTCA COVERED NOVEL 0 1 5.275991 KEEP 0 2 67 41 1432 CC 1 0.999999 0 7 60 265 0 0 18.178751 116 60 4238 221 0.056911 0.999999 CCDC180 100499483 __UNKNOWN__ __UNKNOWN__ 9 100008543 100008543 __UNKNOWN__ Intron SNP G G A rs7020144 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:100008543G>A ENST00000375202.2 + 2 162 CCDC180_ENST00000357054.1_Intron|RP11-23J9.5_ENST00000375204.2_RNA|CCDC180_ENST00000395220.1_Intron|CCDC180_ENST00000411667.2_Intron|CCDC180_ENST00000375205.2_Intron Q9P1Z9 CC180_HUMAN coiled-coil domain containing 180 NA NA extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) NA CAATTAATCAGATAAAATAAA 0.299 NA A||| 4318 0.86222 0.9652 0.8012 5008 , , NA 14890 0.9425 NA 0.7962 False NA ,,, NA NA NA 2504 0.7515 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK123391 CCDS35077.1, CCDS35077.2 9q22.33 2013-03-08 2013-03-08 2013-03-08 ENSG00000197816 100499483 29303 protein-coding gene gene with protein product Behcet's Disease Associated Gene 1 KIAA1529, chromosome 9 open reading frame 174 KIAA1529, C9orf174 NA 10819331 Standard NM_020893 NM_020893 NA Approved DKFZp434I2420, BDAG1 uc004axg.2 Q9P1Z9 OTTHUMG00000167001 ENST00000375202.2:c.-1191+75G>A chr9.hg19:g.100008543G>A NA Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0 hg19 CCDS35077.2 0.02 1.788947 TCAxATA COVERED NOVEL CCDC180-202 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding 1 2.407357 KEEP 0 0 0 8 259 GG 0.99257 0.97466 0 + 4 40 140 0 0 9.620473 53 60 1986 66 ENST00000375202.2 0.070175 0.981955 CCDC180 100499483 __UNKNOWN__ __UNKNOWN__ 9 100122291 100122291 __UNKNOWN__ Missense_Mutation SNP T T C rs3747495 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:100122291T>C ENST00000529487.1 + 26 3620 c.3523T>C c.(3523-3525)Ttc>Ctc p.F1175L RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000357054.1_Missense_Mutation_p.F1146L|CCDC180_ENST00000375202.2_Missense_Mutation_p.F1175L|CCDC180_ENST00000395220.1_3'UTR NM_020893.2 NP_065944.2 Q9P1Z9 CC180_HUMAN coiled-coil domain containing 180 1146 NA extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) p.F1146L(1) NA ACTCCTCAGCTTCGTCCAAAC 0.507 NA T||| 1159 0.23143 0.1369 0.3444 5008 , , NA 21733 0.2907 NA 0.1879 False NA ,,, NA NA NA 2504 0.2628 NA NA NA NA 1 Substitution - Missense(1) stomach(1) T LEU/PHE 618,3788 267.7+/-268.0 42,534,1627 166 166 166 3523 3.4 0 9 dbSNP_107 166 1588,7012 298.5+/-303.9 142,1304,2854 yes missense C9orf174 NM_020893.2 22 184,1838,4481 CC,CT,TT 18.4651,14.0263,16.9614 benign 1175/1702 100122291 2206,10800 2203 4300 6503 SO:0001583 missense AK123391 CCDS35077.1, CCDS35077.2 9q22.33 2013-03-08 2013-03-08 2013-03-08 ENSG00000197816 100499483 29303 protein-coding gene gene with protein product Behcet's Disease Associated Gene 1 KIAA1529, chromosome 9 open reading frame 174 KIAA1529, C9orf174 NA 10819331 Standard NM_020893 NM_020893 NA Approved DKFZp434I2420, BDAG1 uc004axg.2 Q9P1Z9 OTTHUMG00000167001 ENST00000529487.1:c.3523T>C chr9.hg19:g.100122291T>C ENSP00000434727:p.Phe1175Leu NA Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0 hg19 CCDS35077.2 0.02 6.779684 AGCxTCG COVERED 508 0.2326007326007326 52 0.10569105691056911 128 0.35359116022099446 174 0.3041958041958042 154 0.20316622691292877 T 12.99 2.103262 0.37145 0.140263 0.184651 ENSG00000197816 ENST00000357054;ENST00000375202;ENST00000529487 T;T;T 0.08102 3.13;3.15;3.15 5.71 3.39 0.38822 . 0.472963 0.25919 N 0.027445 T 0.00012 0.0000 L 0.27053 0.805 0.54753 P 1.0999999999983245E-5 B;B 0.33637 0.119;0.42 B;B 0.32090 0.097;0.14 T 0.45366 -0.9266 9 0.10377 T 0.69 -2.0155 6.8103 0.23801 0.0:0.192:0.0:0.808 rs3747495;rs13302501;rs17583370;rs52794397;rs61215609;rs3747495 1314;1146 B7ZMG3;Q9P1Z9 .;CI174_HUMAN L 1146;1175;1175 ENSP00000349562:F1146L;ENSP00000364348:F1175L;ENSP00000434727:F1175L ENSP00000349562:F1146L F + 1 0 C9orf174 99162112 0.676000 0.27567 0.002000 0.10522 0.031000 0.12232 1.588000 0.36633 0.544000 0.28883 0.459000 0.35465 TTC NOVEL CCDC180-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000383515.2 0 11.132399 KEEP 0 0 0 37 1166 TT 1 1 0 + 10 60 370 0 0 24.719621 182 60 6677 291 ENST00000529487.1 0.052083 1 CCDC180 100499483 __UNKNOWN__ __UNKNOWN__ 9 100132829 100132829 __UNKNOWN__ Intron SNP T T C rs2306090 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:100132829T>C ENST00000529487.1 + 33 4579 RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000357054.1_Intron|CCDC180_ENST00000375202.2_Intron|CCDC180_ENST00000395220.1_Intron NM_020893.2 NP_065944.2 Q9P1Z9 CC180_HUMAN coiled-coil domain containing 180 NA NA extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) NA TCAGAGGACATGAGTCTGGCC 0.498 NA T||| 1375 0.274561 0.1846 0.353 5008 , , NA 18039 0.4018 NA 0.1928 False NA ,,, NA NA NA 2504 0.2935 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK123391 CCDS35077.1, CCDS35077.2 9q22.33 2013-03-08 2013-03-08 2013-03-08 ENSG00000197816 100499483 29303 protein-coding gene gene with protein product Behcet's Disease Associated Gene 1 KIAA1529, chromosome 9 open reading frame 174 KIAA1529, C9orf174 NA 10819331 Standard NM_020893 NM_020893 NA Approved DKFZp434I2420, BDAG1 uc004axg.2 Q9P1Z9 OTTHUMG00000167001 ENST00000529487.1:c.4483-94T>C chr9.hg19:g.100132829T>C NA Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0 hg19 CCDS35077.2 0.02 4.527931 ACAxGAG COVERED NOVEL CCDC180-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000383515.2 0 3.904282 KEEP 0 0 0 13 362 TT 0.994391 0.994381 0 + 5 60 188 0 0 12.395507 103 60 3800 132 ENST00000529487.1 0.046296 0.999991 CCDC180 100499483 __UNKNOWN__ __UNKNOWN__ 9 100139182 100139182 __UNKNOWN__ 3'UTR SNP C C T rs898869 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:100139182C>T ENST00000529487.1 + 0 5209 RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000357054.1_3'UTR|CCDC180_ENST00000375202.2_3'UTR|CCDC180_ENST00000395220.1_3'UTR NM_020893.2 NP_065944.2 Q9P1Z9 CC180_HUMAN coiled-coil domain containing 180 NA NA extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) NA TGTGACCCTCCGCCCCACCAT 0.532 NA C||| 1376 0.27476 0.1853 0.353 5008 , , NA 20839 0.4018 NA 0.1928 False NA ,,, NA NA NA 2504 0.2935 NA NA NA NA 0 C 807,3599 321.5+/-297.2 71,665,1467 113 93 99 -0.7 0 9 dbSNP_86 99 1606,6994 299.7+/-304.6 145,1316,2839 no utr-3 C9orf174 NM_020893.2 216,1981,4306 TT,TC,CC 18.6744,18.3159,18.553 100139182 2413,10593 2203 4300 6503 SO:0001624 3_prime_UTR_variant AK123391 CCDS35077.1, CCDS35077.2 9q22.33 2013-03-08 2013-03-08 2013-03-08 ENSG00000197816 100499483 29303 protein-coding gene gene with protein product Behcet's Disease Associated Gene 1 KIAA1529, chromosome 9 open reading frame 174 KIAA1529, C9orf174 NA 10819331 Standard NM_020893 NM_020893 NA Approved DKFZp434I2420, BDAG1 uc004axg.2 Q9P1Z9 OTTHUMG00000167001 ENST00000529487.1:c.*6C>T chr9.hg19:g.100139182C>T NA Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0 hg19 CCDS35077.2 0.02 30.149439 CTCxGCC COVERED NOVEL CCDC180-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000383515.2 1 19.261877 KEEP 0 0 0 64 2201 CC 1 1 0 + 21 60 784 0 0 46.977363 718 60 25472 986 ENST00000529487.1 0.028417 1 TDRD7 23424 __UNKNOWN__ __UNKNOWN__ 9 100190780 100190780 __UNKNOWN__ Silent SNP A A G rs1381532 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:100190780A>G ENST00000355295.4 + 2 328 c.33A>G c.(31-33)ctA>ctG p.L11L TDRD7_ENST00000422139.2_Intron NM_014290.2 NP_055105.2 Q8NHU6 TDRD7_HUMAN tudor domain containing 7 11 HTH OST-type 1. {ECO:0000255|PROSITE- ProRule:PRU00975}. NA germ cell development (GO:0007281)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|posttranscriptional regulation of gene expression (GO:0010608)|spermatogenesis (GO:0007283) chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|P granule (GO:0043186)|ribonucleoprotein granule (GO:0035770) mRNA binding (GO:0003729) endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Acute lymphoblastic leukemia(62;0.158) CAAAGATGCTACGAGCTGTTC 0.433 NA G||| 2729 0.544928 0.6127 0.598 5008 , , NA 20612 0.5804 NA 0.5119 False NA ,,, NA NA NA 2504 0.4131 NA NA NA NA 0 G 2664,1742 518.6+/-369.8 797,1070,336 100 96 97 33 -4.7 0.9 9 dbSNP_88 97 4090,4510 592.4+/-393.0 978,2134,1188 no coding-synonymous TDRD7 NM_014290.2 1775,3204,1524 GG,GA,AA 47.5581,39.537,48.0701 11/1099 100190780 6754,6252 2203 4300 6503 SO:0001819 synonymous_variant AB025254 CCDS6725.1 9q22.33 2013-01-23 ENSG00000196116 ENSG00000196116 23424 Tudor domain containing 30831 protein-coding gene gene with protein product 611258 NA 21436445 Standard NM_014290 NM_014290 NA Approved PCTAIRE2BP uc004axj.3 Q8NHU6 OTTHUMG00000020326 ENST00000355295.4:c.33A>G chr9.hg19:g.100190780A>G NA A6NCI6|B2RBX3|B4DG99|B4DXF7|E7EQD4|Q5VV27|Q96JT1|Q9UFF0|Q9Y2M3 hg19 CCDS6725.1 0.02 27.215643 GCTxCGA COVERED NOVEL TDRD7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053322.1 1 14.613436 KEEP 0 2 76 75 2301 AA 1 1 0 + 33 60 1240 0 0 85.194438 531 60 18909 796 ENST00000355295.4 0.058511 1 TDRD7 23424 __UNKNOWN__ __UNKNOWN__ 9 100194406 100194406 __UNKNOWN__ Missense_Mutation SNP T T C rs2045732 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:100194406T>C ENST00000355295.4 + 4 744 c.449T>C c.(448-450)gTt>gCt p.V150A TDRD7_ENST00000422139.2_Missense_Mutation_p.V76A NM_014290.2 NP_055105.2 Q8NHU6 TDRD7_HUMAN tudor domain containing 7 150 NA V -> A (in dbSNP:rs2045732). {ECO:0000269|PubMed:14702039, ECO:0000269|Ref.3}. germ cell development (GO:0007281)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|posttranscriptional regulation of gene expression (GO:0010608)|spermatogenesis (GO:0007283) chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|P granule (GO:0043186)|ribonucleoprotein granule (GO:0035770) mRNA binding (GO:0003729) p.V150A(1) endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Acute lymphoblastic leukemia(62;0.158) GGAAACTCTGTTGGAGTTAAG 0.413 NA C||| 2728 0.544728 0.6127 0.598 5008 , , NA 21263 0.5784 NA 0.5129 False NA ,,, NA NA NA 2504 0.4131 NA NA NA NA 1 Substitution - Missense(1) stomach(1) C ALA/VAL 2664,1742 519.0+/-369.9 797,1070,336 157 158 158 449 1 0 9 dbSNP_94 158 4088,4512 592.6+/-393.0 978,2132,1190 yes missense TDRD7 NM_014290.2 64 1775,3202,1526 CC,CT,TT 47.5349,39.537,48.0855 benign 150/1099 100194406 6752,6254 2203 4300 6503 SO:0001583 missense AB025254 CCDS6725.1 9q22.33 2013-01-23 ENSG00000196116 ENSG00000196116 23424 Tudor domain containing 30831 protein-coding gene gene with protein product 611258 NA 21436445 Standard NM_014290 NM_014290 NA Approved PCTAIRE2BP uc004axj.3 Q8NHU6 OTTHUMG00000020326 ENST00000355295.4:c.449T>C chr9.hg19:g.100194406T>C ENSP00000347444:p.Val150Ala NA A6NCI6|B2RBX3|B4DG99|B4DXF7|E7EQD4|Q5VV27|Q96JT1|Q9UFF0|Q9Y2M3 hg19 CCDS6725.1 0.02 11.989755 CTGxTGG COVERED 1239 0.5673076923076923 308 0.6260162601626016 214 0.5911602209944752 327 0.5716783216783217 390 0.5145118733509235 C 0.056 -1.236835 0.01493 0.60463 0.475349 ENSG00000196116 ENST00000355295;ENST00000422139 T;T 0.12255 2.7;2.7 4.98 0.998 0.19857 . 1.655750 0.02869 N 0.131355 T 0.00012 0.0000 N 0.08118 0 0.58432 P 1.0000000000287557E-6 B 0.14438 0.01 B 0.06405 0.002 T 0.40776 -0.9545 9 0.13470 T 0.59 -0.3418 5.7697 0.18247 0.2585:0.0841:0.0:0.6574 rs2045732;rs17332669;rs52796736;rs57645526;rs2045732 150 Q8NHU6 TDRD7_HUMAN A 150;76 ENSP00000347444:V150A;ENSP00000413608:V76A ENSP00000347444:V150A V + 2 0 TDRD7 99234227 0.031000 0.19500 0.012000 0.15200 0.004000 0.04260 -0.001000 0.12947 0.092000 0.17331 -1.333000 0.01266 GTT NOVEL TDRD7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053322.1 0 10.202236 KEEP 0 2 72 59 1905 TT 1 1 0 + 14 60 529 0 0 35.472307 265 60 9480 421 ENST00000355295.4 0.050179 1 NCBP1 4686 __UNKNOWN__ __UNKNOWN__ 9 100396025 100396025 __UNKNOWN__ 5'UTR SNP G G A rs191040134 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:100396025G>A ENST00000375147.3 + 0 118 NM_002486.4 NP_002477.1 Q09161 NCBP1_HUMAN nuclear cap binding protein subunit 1, 80kDa NA NA 7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of viral transcription (GO:0050434)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032) cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|mRNA cap binding complex (GO:0005845)|nuclear cap binding complex (GO:0005846)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529) poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA cap binding (GO:0000339) NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4) 19 Acute lymphoblastic leukemia(62;0.158) CTGCGCTTCCGGGGCCGTGGC 0.711 NA G||| 41 0.0081869 0.0008 0.0 5008 , , NA 12767 0.0377 NA 0.0 False NA ,,, NA NA NA 2504 0.002 NA NA NA Ovarian(36;879 898 2893 44212 50307) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant BC001450 CCDS6728.1 9q34.1 2010-01-26 2002-08-29 ENSG00000136937 ENSG00000136937 4686 7658 protein-coding gene gene with protein product 600469 nuclear cap binding protein subunit 1, 80kD NCBP NA 7937105, 8812508 Standard NM_002486 NM_002486 NA Approved CBP80, Sto1 uc004axq.3 Q09161 OTTHUMG00000020332 ENST00000375147.3:c.-139G>A chr9.hg19:g.100396025G>A NA B2R718|Q59G76|Q5T1V0|Q5T7X2 hg19 CCDS6728.1 0.02 8.662375 TCCxGGG COVERED NOVEL NCBP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053337.1 0 50.561002 KEEP 0 0 0 168 5881 GG 1 1 0 + 7 60 254 0 0 15.508825 197 60 7188 468 ENST00000375147.3 0.034314 1 FOXE1 2304 __UNKNOWN__ __UNKNOWN__ 9 100616910 100616910 __UNKNOWN__ Silent SNP C C T rs3021525 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:100616910C>T ENST00000375123.3 + 1 1375 c.714C>T c.(712-714)ccC>ccT p.P238P NM_004473.3 NP_004464.2 O00358 FOXE1_HUMAN forkhead box E1 (thyroid transcription factor 2) 238 Ala-rich.|Pro-rich. NA anatomical structure morphogenesis (GO:0009653)|cell migration (GO:0016477)|embryonic organ morphogenesis (GO:0048562)|hair follicle morphogenesis (GO:0031069)|hard palate development (GO:0060022)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pharynx development (GO:0060465)|positive regulation of transcription, DNA-templated (GO:0045893)|soft palate development (GO:0060023)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590) nucleus (GO:0005634) DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700) central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1) 5 Acute lymphoblastic leukemia(62;0.158) AGCTGGGGCCCGCACCGTCGG 0.786 NA C||| 76 0.0151757 0.0 0.0043 5008 , , NA 6203 0.0556 NA 0.0 False NA ,,, NA NA NA 2504 0.0174 NA NA NA NA 0 2 2 2 NA NA 9 NA 100616910 817 2000 2817 SO:0001819 synonymous_variant U89995 CCDS35078.1 9q22 2008-09-05 ENSG00000178919 ENSG00000178919 2304 Forkhead boxes 3806 protein-coding gene gene with protein product 602617 forkhead box E2 FKHL15, TITF2, FOXE2 NA 9169137, 9697705 Standard NM_004473 NA Approved TTF-2, HFKH4 uc004axu.3 O00358 OTTHUMG00000020333 ENST00000375123.3:c.714C>T chr9.hg19:g.100616910C>T NA O75765|Q5T109|Q99526 hg19 CCDS35078.1 0.02 -0.394753 GCCxGCA COVERED NOVEL FOXE1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053341.1 2 5.716293 KEEP 0 0 0 19 612 CC 0.99986 0.92651 0 + 4 60 139 0 0 9.949846 41 60 1453 88 ENST00000375123.3 0.088889 0.92664 FOXE1 2304 __UNKNOWN__ __UNKNOWN__ 9 100617879 100617879 __UNKNOWN__ 3'UTR SNP T T C rs116899397 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:100617879T>C ENST00000375123.3 + 0 2344 NM_004473.3 NP_004464.2 O00358 FOXE1_HUMAN forkhead box E1 (thyroid transcription factor 2) NA NA anatomical structure morphogenesis (GO:0009653)|cell migration (GO:0016477)|embryonic organ morphogenesis (GO:0048562)|hair follicle morphogenesis (GO:0031069)|hard palate development (GO:0060022)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pharynx development (GO:0060465)|positive regulation of transcription, DNA-templated (GO:0045893)|soft palate development (GO:0060023)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590) nucleus (GO:0005634) DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700) central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1) 5 Acute lymphoblastic leukemia(62;0.158) TCCCTGTCTCTGAGAACTTGA 0.468 NA T||| 74 0.0147764 0.0 0.0014 5008 , , NA 18309 0.0556 NA 0.0 False NA ,,, NA NA NA 2504 0.0174 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U89995 CCDS35078.1 9q22 2008-09-05 ENSG00000178919 ENSG00000178919 2304 Forkhead boxes 3806 protein-coding gene gene with protein product 602617 forkhead box E2 FKHL15, TITF2, FOXE2 NA 9169137, 9697705 Standard NM_004473 NA Approved TTF-2, HFKH4 uc004axu.3 O00358 OTTHUMG00000020333 ENST00000375123.3:c.*561T>C chr9.hg19:g.100617879T>C NA O75765|Q5T109|Q99526 hg19 CCDS35078.1 0.02 10.276003 CTCxGAG COVERED NOVEL FOXE1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053341.1 2 10.5321 KEEP 0 0 0 35 1119 TT 0.999999 0.999999 0 + 9 60 322 0 0 19.210136 272 60 10220 391 ENST00000375123.3 0.032028 1 C9orf156 51531 __UNKNOWN__ __UNKNOWN__ 9 100672338 100672338 __UNKNOWN__ Missense_Mutation SNP C C T rs2282192 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:100672338C>T ENST00000375119.3 - 4 1046 c.970G>A c.(970-972)Gtg>Atg p.V324M C9orf156_ENST00000478126.1_5'UTR NM_016481.3 NP_057565.3 Q9BU70 NAP1_HUMAN chromosome 9 open reading frame 156 324 NA V -> M (in dbSNP:rs2282192). viral process (GO:0016032) hydrolase activity (GO:0016787) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1) 13 Acute lymphoblastic leukemia(62;0.158) GCAGGAACCACGCTGCGGGGA 0.592 NA C||| 2951 0.589257 0.7935 0.4553 5008 , , NA 19915 0.7788 NA 0.2704 False NA ,,, NA NA NA 2504 0.5409 NA NA NA NA 0 C MET/VAL 3121,1285 699.7+/-406.5 1113,895,195 58 53 54 970 -3.4 0 9 dbSNP_100 54 2332,6268 389.4+/-342.9 311,1710,2279 yes missense C9orf156 NM_016481.3 21 1424,2605,2474 TT,TC,CC 27.1163,29.1648,41.9268 benign 324/442 100672338 5453,7553 2203 4300 6503 SO:0001583 missense AK023069 CCDS6730.1 9q31.1 2011-03-02 ENSG00000136932 ENSG00000136932 51531 30967 protein-coding gene gene with protein product Nef (lentivirus myristoylated factor) associated protein 1 NA Standard NM_016481 NM_016481 NA Approved HSPC219, NAP1 uc004axv.1 Q9BU70 OTTHUMG00000021007 ENST00000375119.3:c.970G>A chr9.hg19:g.100672338C>T ENSP00000364260:p.Val324Met NA Q5T113|Q86SK0|Q9NXJ7|Q9P0Q7 hg19 CCDS6730.1 0.02 6.508896 CCAxGCT COVERED 1203 0.5508241758241759 391 0.7947154471544715 152 0.4198895027624309 445 0.777972027972028 215 0.2836411609498681 C 10.47 1.360029 0.24598 0.708352 0.271163 ENSG00000136932 ENST00000375119;ENST00000375118 T;T 0.47528 0.84;0.84 5.03 -3.42 0.04825 Uncharacterised domain UPF0066, YaeB-like domain (1); 1.123640 0.06526 N 0.740603 T 0.00012 0.0000 L 0.38838 1.175 0.80722 P 0.0 B;B 0.18610 0.029;0.007 B;B 0.13407 0.009;0.001 T 0.39502 -0.9611 9 0.44086 T 0.13 -0.2542 1.5546 0.02582 0.1786:0.3526:0.102:0.3668 rs2282192;rs52801806;rs61011015;rs2282192 178;324 Q5T114;Q9BU70 .;NAP1_HUMAN M 324;178 ENSP00000364260:V324M;ENSP00000364259:V178M ENSP00000364259:V178M V - 1 0 C9orf156 99712159 0.000000 0.05858 0.001000 0.08648 0.222000 0.24845 -0.162000 0.10012 -0.506000 0.06558 -1.559000 0.00887 GTG NOVEL C9orf156-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055401.1 1 8.088587 KEEP 0 2 63 49 1670 CC 1 1 0 - 14 60 513 0 0 35.957188 186 60 6649 294 ENST00000375119.3 0.07 1 TRIM14 9830 __UNKNOWN__ __UNKNOWN__ 9 100849465 100849465 __UNKNOWN__ 3'UTR SNP G G A rs10984980 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:100849465G>A ENST00000341469.2 - 0 1625 TRIM14_ENST00000342043.3_Intron|TRIM14_ENST00000478530.1_Intron|TRIM14_ENST00000375098.3_Intron|TRIM14_ENST00000538344.1_3'UTR NM_014788.2 NP_055603.2 Q14142 TRI14_HUMAN tripartite motif containing 14 NA NA innate immune response (GO:0045087)|negative regulation of viral transcription (GO:0032897)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091) cytoplasm (GO:0005737)|intracellular (GO:0005622) zinc ion binding (GO:0008270) central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 9 Acute lymphoblastic leukemia(62;0.0559) CTTACCTGTGGGGGTATCACT 0.522 NA G||| 435 0.086861 0.0045 0.0548 5008 , , NA 19995 0.251 NA 0.0815 False NA ,,, NA NA NA 2504 0.0573 NA NA NA Colon(14;460 597 13826 51781) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF220130 CCDS6734.1 9q31.1 2011-04-20 2011-01-25 ENSG00000106785 ENSG00000106785 9830 Tripartite motif containing / Tripartite motif containing 16283 protein-coding gene gene with protein product 606556 tripartite motif-containing 14 NA 11331580 Standard NM_014788 XM_005252320 NA Approved KIAA0129 uc004ayd.2 Q14142 OTTHUMG00000020339 ENST00000341469.2:c.*287C>T chr9.hg19:g.100849465G>A NA A8K9W0|E7EQC4|F8W956|Q548W9|Q5TBQ8|Q6ZWL7|Q9BRD8|Q9C020 hg19 CCDS6734.1 0.02 11.051318 GTGxGGG COVERED NOVEL TRIM14-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053350.1 2 12.035172 KEEP 0 0 0 40 1366 GG 1 1 0 - 11 60 356 0 0 21.377063 250 60 8956 329 ENST00000341469.2 0.042146 1 TRIM14 9830 __UNKNOWN__ __UNKNOWN__ 9 100849682 100849682 __UNKNOWN__ 3'UTR SNP T T G rs78845704 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:100849682T>G ENST00000341469.2 - 0 1408 TRIM14_ENST00000342043.3_Intron|TRIM14_ENST00000478530.1_Intron|TRIM14_ENST00000375098.3_Intron|TRIM14_ENST00000538344.1_3'UTR NM_014788.2 NP_055603.2 Q14142 TRI14_HUMAN tripartite motif containing 14 NA NA innate immune response (GO:0045087)|negative regulation of viral transcription (GO:0032897)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091) cytoplasm (GO:0005737)|intracellular (GO:0005622) zinc ion binding (GO:0008270) central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 9 Acute lymphoblastic leukemia(62;0.0559) CCAGCCACGCTGATCTAGGTA 0.637 NA T||| 430 0.0858626 0.0015 0.0533 5008 , , NA 14545 0.251 NA 0.0815 False NA ,,, NA NA NA 2504 0.0573 NA NA NA Colon(14;460 597 13826 51781) NA 0 T ,, 26,1358 0,26,666 51 54 53 ,, -2.4 0 9 dbSNP_131 53 235,2947 5,225,1361 no utr-3,intron,intron TRIM14 NM_014788.2,NM_033219.1,NM_033220.1 ,, 5,251,2027 GG,GT,TT 7.3853,1.8786,5.7162 ,, ,, 100849682 261,4305 692 1591 2283 SO:0001624 3_prime_UTR_variant AF220130 CCDS6734.1 9q31.1 2011-04-20 2011-01-25 ENSG00000106785 ENSG00000106785 9830 Tripartite motif containing / Tripartite motif containing 16283 protein-coding gene gene with protein product 606556 tripartite motif-containing 14 NA 11331580 Standard NM_014788 XM_005252320 NA Approved KIAA0129 uc004ayd.2 Q14142 OTTHUMG00000020339 ENST00000341469.2:c.*70A>C chr9.hg19:g.100849682T>G NA A8K9W0|E7EQC4|F8W956|Q548W9|Q5TBQ8|Q6ZWL7|Q9BRD8|Q9C020 hg19 CCDS6734.1 0.02 13.936162 CGCxGAT COVERED NOVEL TRIM14-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053350.1 2 21.638663 KEEP 0 0 0 72 2241 TT 1 1 0 - 13 60 444 0 0 26.285447 350 60 12766 494 ENST00000341469.2 0.035813 1 TBC1D2 55357 __UNKNOWN__ __UNKNOWN__ 9 100971348 100971348 __UNKNOWN__ Silent SNP T T C rs3739666 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:100971348T>C ENST00000375064.1 - 9 1790 c.1752A>G c.(1750-1752)gcA>gcG p.A584A TBC1D2_ENST00000342112.5_Silent_p.A366A|TBC1D2_ENST00000493589.2_5'UTR|TBC1D2_ENST00000375066.5_Silent_p.A584A|TBC1D2_ENST00000375063.1_Silent_p.A124A NM_001267571.1 NP_001254500.1 Q9BYX2 TBD2A_HUMAN TBC1 domain family, member 2 584 NA positive regulation of Rab GTPase activity (GO:0032851) cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410) cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097) breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.55e-37) GTGACTCCAATGCCTGGATCT 0.612 NA C||| 3002 0.599441 0.7731 0.5418 5008 , , NA 17823 0.498 NA 0.5706 False NA ,,, NA NA NA 2504 0.5399 NA NA NA NA 0 C 3286,1120 394.9+/-329.4 1220,846,137 193 200 198 1752 -11.4 0 9 dbSNP_107 198 4819,3779 526.0+/-380.9 1339,2141,819 no coding-synonymous TBC1D2 NM_018421.3 2559,2987,956 CC,CT,TT 43.9521,25.4199,37.673 584/918 100971348 8105,4899 2203 4299 6502 SO:0001819 synonymous_variant AY026527 CCDS35080.1, CCDS59137.1, CCDS75865.1 9q22.32 2011-11-30 ENSG00000095383 ENSG00000095383 55357 18026 protein-coding gene gene with protein product prostate antigen recognized and identified by SEREX 609871 NA Standard NM_018421 NM_018421 NA Approved PARIS1, TBC1D2A, Armus uc011lvb.2 Q9BYX2 OTTHUMG00000020343 ENST00000375064.1:c.1752A>G chr9.hg19:g.100971348T>C NA B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4 hg19 0.02 10.737328 CAAxGCC COVERED NOVEL TBC1D2-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000053366.1 2 17.889043 KEEP 0 1 36 72 2261 TT 1 1 0 - 15 60 541 0 0 36.014073 259 60 9412 443 ENST00000375064.1 0.054745 1 TBC1D2 55357 __UNKNOWN__ __UNKNOWN__ 9 100983566 100983566 __UNKNOWN__ Intron SNP C C G rs7855855 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:100983566C>G ENST00000375064.1 - 6 1017 TBC1D2_ENST00000342112.5_Intron|TBC1D2_ENST00000493589.2_Intron|TBC1D2_ENST00000375066.5_Intron NM_001267571.1 NP_001254500.1 Q9BYX2 TBD2A_HUMAN TBC1 domain family, member 2 NA NA positive regulation of Rab GTPase activity (GO:0032851) cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410) cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097) breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.55e-37) CTGGGCGCCACAGTGGGGTAT 0.577 NA G||| 2906 0.580272 0.795 0.5576 5008 , , NA 17944 0.4891 NA 0.5169 False NA ,,, NA NA NA 2504 0.4652 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY026527 CCDS35080.1, CCDS59137.1, CCDS75865.1 9q22.32 2011-11-30 ENSG00000095383 ENSG00000095383 55357 18026 protein-coding gene gene with protein product prostate antigen recognized and identified by SEREX 609871 NA Standard NM_018421 NM_018421 NA Approved PARIS1, TBC1D2A, Armus uc011lvb.2 Q9BYX2 OTTHUMG00000020343 ENST00000375064.1:c.979-56G>C chr9.hg19:g.100983566C>G NA B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4 hg19 0.02 4.669495 CCAxAGT COVERED NOVEL TBC1D2-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000053366.1 3 3.54742 KEEP 0 1 35 24 856 CC 0.999931 0.99993 0 - 5 60 196 0 0 12.853008 121 60 4635 190 ENST00000375064.1 0.039683 1 TBC1D2 55357 __UNKNOWN__ __UNKNOWN__ 9 100991430 100991430 __UNKNOWN__ Splice_Site SNP C C A rs1573025 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:100991430C>A ENST00000375064.1 - 5 820 c.782G>T c.(781-783)gGg>gTg p.G261V TBC1D2_ENST00000342112.5_Splice_Site_p.G43V|TBC1D2_ENST00000375066.5_Splice_Site_p.G261V NM_001267571.1 NP_001254500.1 Q9BYX2 TBD2A_HUMAN TBC1 domain family, member 2 261 NA G -> V (in dbSNP:rs1573025). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15164053, ECO:0000269|Ref.9}. positive regulation of Rab GTPase activity (GO:0032851) cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410) cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097) breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.55e-37) TGGCTCTCTCCCTGCTCAAGA 0.498 NA C||| 821 0.163938 0.1384 0.2017 5008 , , NA 20558 0.1597 NA 0.1779 False NA ,,, NA NA NA 2504 0.1616 NA NA NA NA 0 C VAL/GLY 595,3811 261.3+/-264.2 41,513,1649 87 75 79 782 1.6 0.3 9 dbSNP_88 79 1459,7141 278.7+/-293.6 118,1223,2959 yes missense-near-splice TBC1D2 NM_018421.3 109 159,1736,4608 AA,AC,CC 16.9651,13.5043,15.7927 possibly-damaging 261/918 100991430 2054,10952 2203 4300 6503 SO:0001630 splice_region_variant AY026527 CCDS35080.1, CCDS59137.1, CCDS75865.1 9q22.32 2011-11-30 ENSG00000095383 ENSG00000095383 55357 18026 protein-coding gene gene with protein product prostate antigen recognized and identified by SEREX 609871 NA Standard NM_018421 NM_018421 NA Approved PARIS1, TBC1D2A, Armus uc011lvb.2 Q9BYX2 OTTHUMG00000020343 ENST00000375064.1:c.782-1G>T chr9.hg19:g.100991430C>A NA B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4 hg19 0.02 3.885686 CTCxCTG COVERED 376 0.17216117216117216 65 0.13211382113821138 80 0.22099447513812154 91 0.1590909090909091 140 0.18469656992084432 C 8.935 0.964516 0.18583 0.135043 0.169651 ENSG00000095383 ENST00000375064;ENST00000375066;ENST00000342112 T;T;T 0.13420 2.59;3.14;2.59 4.52 1.59 0.23543 . 0.547535 0.18242 N 0.147207 T 0.00012 0.0000 L 0.52364 1.645 0.30637 P 0.756913 P;D 0.53312 0.501;0.959 B;P 0.48030 0.116;0.564 T 0.33394 -0.9870 9 0.25751 T 0.34 . 3.32 0.07047 0.2047:0.5714:0.0:0.2239 rs1573025;rs61050974;rs1573025 261;261 Q9BYX2;Q9BYX2-2 TBD2A_HUMAN;. V 261;261;43 ENSP00000364205:G261V;ENSP00000364207:G261V;ENSP00000341567:G43V ENSP00000341567:G43V G - 2 0 TBC1D2 100031251 0.279000 0.24239 0.259000 0.24435 0.799000 0.45148 0.447000 0.21710 0.142000 0.18901 -0.330000 0.08379 GGG NOVEL TBC1D2-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000053366.1 0 5.656499 KEEP 0 0 0 19 651 CC 0.99986 0.999855 0 Missense_Mutation - 5 60 176 0 0 11.096979 108 60 3905 155 ENST00000375064.1 0.044248 0.999995 GABBR2 9568 __UNKNOWN__ __UNKNOWN__ 9 101053076 101053076 __UNKNOWN__ Intron SNP C C G rs5010004 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:101053076C>G ENST00000259455.2 - 19 3120 NM_005458.7 NP_005449.5 O75899 GABR2_HUMAN gamma-aminobutyric acid (GABA) B receptor, 2 NA NA G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268) cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211) G-protein coupled GABA receptor activity (GO:0004965) NOTCH1_ENST00000277541/GABBR2(2) breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 49 Acute lymphoblastic leukemia(62;0.0527) Baclofen(DB00181) GGTAGCTGGGCGCTTACCAGA 0.512 NA G||| 1569 0.313299 0.5461 0.2666 5008 , , NA 16849 0.1597 NA 0.2624 False NA ,,, NA NA NA 2504 0.2423 NA NA NA NA 0 G 2278,2104 611,1056,524 31 27 28 -4.5 0 9 dbSNP_113 28 2104,6470 275,1554,2458 no intron GABBR2 NM_005458.7 886,2610,2982 GG,GC,CC 24.5393,48.0146,33.8222 101053076 4382,8574 2191 4287 6478 SO:0001627 intron_variant AF069755 CCDS6736.1 9q22.1-q22.3 2012-08-29 2006-02-16 2006-02-16 ENSG00000136928 ENSG00000136928 9568 GABA receptors, GPCR / Class C : GABA(B) receptors 4507 protein-coding gene gene with protein product 607340 G protein-coupled receptor 51 GPR51 NA 10087195 Standard NM_005458 NA Approved HG20, GABABR2, GPRC3B uc004ays.3 O75899 OTTHUMG00000020345 ENST00000259455.2:c.2661-45G>C chr9.hg19:g.101053076C>G NA O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9 hg19 CCDS6736.1 0.02 2.072555 GGGxGCT COVERED NOVEL GABBR2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053373.1 1 3.611588 KEEP 0 0 0 12 415 CC 0.993634 0.993529 0 - 4 60 153 0 0 10.047822 89 60 3035 135 ENST00000259455.2 0.043011 0.999895 GABBR2 9568 __UNKNOWN__ __UNKNOWN__ 9 101056009 101056009 __UNKNOWN__ Intron SNP T T G rs10818743 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:101056009T>G ENST00000259455.2 - 18 3120 NM_005458.7 NP_005449.5 O75899 GABR2_HUMAN gamma-aminobutyric acid (GABA) B receptor, 2 NA NA G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268) cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211) G-protein coupled GABA receptor activity (GO:0004965) NOTCH1_ENST00000277541/GABBR2(2) breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 49 Acute lymphoblastic leukemia(62;0.0527) Baclofen(DB00181) ttgcaaactcttgtgcaGGAG 0.373 NA T||| 1177 0.235024 0.3843 0.2219 5008 , , NA 20882 0.1587 NA 0.1869 False NA ,,, NA NA NA 2504 0.1708 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF069755 CCDS6736.1 9q22.1-q22.3 2012-08-29 2006-02-16 2006-02-16 ENSG00000136928 ENSG00000136928 9568 GABA receptors, GPCR / Class C : GABA(B) receptors 4507 protein-coding gene gene with protein product 607340 G protein-coupled receptor 51 GPR51 NA 10087195 Standard NM_005458 NA Approved HG20, GABABR2, GPRC3B uc004ays.3 O75899 OTTHUMG00000020345 ENST00000259455.2:c.2660+57A>C chr9.hg19:g.101056009T>G NA O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9 hg19 CCDS6736.1 0.02 9.414674 CTCxTGT COVERED NOVEL GABBR2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053373.1 3 4.211562 KEEP 0 0 0 14 426 TT 0.995343 0.995343 0 - 11 60 368 0 0 21.974303 266 60 9854 310 ENST00000259455.2 0.039711 1 GABBR2 9568 __UNKNOWN__ __UNKNOWN__ 9 101056122 101056122 __UNKNOWN__ Missense_Mutation SNP T T C rs10985765 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:101056122T>C ENST00000259455.2 - 18 3064 c.2605A>G c.(2605-2607)Aca>Gca p.T869A NM_005458.7 NP_005449.5 O75899 GABR2_HUMAN gamma-aminobutyric acid (GABA) B receptor, 2 869 NA T -> A (in dbSNP:rs10985765). {ECO:0000269|PubMed:10328880}. G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268) cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211) G-protein coupled GABA receptor activity (GO:0004965) NOTCH1_ENST00000277541/GABBR2(2) breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 49 Acute lymphoblastic leukemia(62;0.0527) Baclofen(DB00181) GAGGGCTCTGTTGTGTTCCAC 0.388 NA T||| 1175 0.234625 0.3835 0.2219 5008 , , NA 19724 0.1587 NA 0.1859 False NA ,,, NA NA NA 2504 0.1708 NA NA NA NA 0 T ALA/THR 1689,2717 511.1+/-367.7 328,1033,842 243 237 239 2605 1.5 1 9 dbSNP_120 239 1485,7115 282.4+/-295.5 119,1247,2934 yes missense GABBR2 NM_005458.7 58 447,2280,3776 CC,CT,TT 17.2674,38.3341,24.4041 benign 869/942 101056122 3174,9832 2203 4300 6503 SO:0001583 missense AF069755 CCDS6736.1 9q22.1-q22.3 2012-08-29 2006-02-16 2006-02-16 ENSG00000136928 ENSG00000136928 9568 GABA receptors, GPCR / Class C : GABA(B) receptors 4507 protein-coding gene gene with protein product 607340 G protein-coupled receptor 51 GPR51 NA 10087195 Standard NM_005458 NA Approved HG20, GABABR2, GPRC3B uc004ays.3 O75899 OTTHUMG00000020345 ENST00000259455.2:c.2605A>G chr9.hg19:g.101056122T>C ENSP00000259455:p.Thr869Ala NA O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9 hg19 CCDS6736.1 0.02 26.348643 CTGxTGT COVERED 496 0.2271062271062271 173 0.3516260162601626 82 0.2265193370165746 96 0.16783216783216784 145 0.19129287598944592 T 11.98 1.801580 0.31869 0.383341 0.172674 ENSG00000136928 ENST00000259455 T 0.77620 -1.11 5.1 1.54 0.23209 . 0.308380 0.40469 N 0.001090 T 0.00012 0.0000 N 0.14661 0.345 0.44155 P 0.003049999999999997 B 0.02656 0.0 B 0.01281 0.0 T 0.19095 -1.0316 9 0.08837 T 0.75 -1.9476 7.6266 0.28216 0.0:0.2503:0.0:0.7497 rs10985765;rs52804588;rs59128016;rs10985765 869 O75899 GABR2_HUMAN A 869 ENSP00000259455:T869A ENSP00000259455:T869A T - 1 0 GABBR2 100095943 1.000000 0.71417 0.972000 0.41901 0.998000 0.95712 1.132000 0.31418 0.104000 0.17725 0.528000 0.53228 ACA NOVEL GABBR2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053373.1 1 13.841075 KEEP 0 0 0 46 1444 TT 1 1 0 - 22 60 849 0 0 54.727127 561 60 20242 781 ENST00000259455.2 0.037736 1 GABBR2 9568 __UNKNOWN__ __UNKNOWN__ 9 101304348 101304348 __UNKNOWN__ Intron SNP C C T rs2184026 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:101304348C>T ENST00000259455.2 - 3 919 GABBR2_ENST00000477471.1_Intron NM_005458.7 NP_005449.5 O75899 GABR2_HUMAN gamma-aminobutyric acid (GABA) B receptor, 2 NA NA G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268) cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211) G-protein coupled GABA receptor activity (GO:0004965) NOTCH1_ENST00000277541/GABBR2(2) breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 49 Acute lymphoblastic leukemia(62;0.0527) Baclofen(DB00181) AAAGAGACAACGCTTTTTACT 0.433 NA C||| 1234 0.246406 0.0469 0.2954 5008 , , NA 20728 0.4921 NA 0.2525 False NA ,,, NA NA NA 2504 0.2219 NA NA NA NA 0 C 278,4128 153.7+/-187.2 10,258,1935 34 32 33 http://www.ncbi.nlm.nih.gov/sites/varvu?gene -3.1 0 9 dbSNP_96 33 1831,6769 321.3+/-315.0 191,1449,2660 no intron GABBR2 NM_005458.7 201,1707,4595 TT,TC,CC 21.2907,6.3096,16.2156 101304348 2109,10897 2203 4300 6503 SO:0001627 intron_variant AF069755 CCDS6736.1 9q22.1-q22.3 2012-08-29 2006-02-16 2006-02-16 ENSG00000136928 ENSG00000136928 9568 GABA receptors, GPCR / Class C : GABA(B) receptors 4507 protein-coding gene gene with protein product 607340 G protein-coupled receptor 51 GPR51 NA 10087195 Standard NM_005458 NA Approved HG20, GABABR2, GPRC3B uc004ays.3 O75899 OTTHUMG00000020345 ENST00000259455.2:c.460-23G>A chr9.hg19:g.101304348C>T NA O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9 hg19 CCDS6736.1 0.02 6.804226 CAAxGCT COVERED NOVEL GABBR2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053373.1 0 8.125426 KEEP 0 0 0 27 886 CC 0.999988 0.999988 0 - 6 60 229 0 0 14.740048 149 60 4996 219 ENST00000259455.2 0.03871 1 GABBR2 9568 __UNKNOWN__ __UNKNOWN__ 9 101371269 101371269 __UNKNOWN__ Intron SNP A A T rs2779536 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:101371269A>T ENST00000259455.2 - 2 781 NM_005458.7 NP_005449.5 O75899 GABR2_HUMAN gamma-aminobutyric acid (GABA) B receptor, 2 NA NA G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268) cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211) G-protein coupled GABA receptor activity (GO:0004965) NOTCH1_ENST00000277541/GABBR2(2) breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 49 Acute lymphoblastic leukemia(62;0.0527) Baclofen(DB00181) GTTTCTACCTATATGCAGTCT 0.353 NA A||| 933 0.186302 0.0779 0.255 5008 , , NA 17336 0.4405 NA 0.0686 False NA ,,, NA NA NA 2504 0.1431 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF069755 CCDS6736.1 9q22.1-q22.3 2012-08-29 2006-02-16 2006-02-16 ENSG00000136928 ENSG00000136928 9568 GABA receptors, GPCR / Class C : GABA(B) receptors 4507 protein-coding gene gene with protein product 607340 G protein-coupled receptor 51 GPR51 NA 10087195 Standard NM_005458 NA Approved HG20, GABABR2, GPRC3B uc004ays.3 O75899 OTTHUMG00000020345 ENST00000259455.2:c.322-30915T>A chr9.hg19:g.101371269A>T NA O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9 hg19 CCDS6736.1 0.02 3.756434 CCTxTAT COVERED NOVEL GABBR2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053373.1 0 3.309002 KEEP 0 0 0 11 325 AA 0.993072 0.993057 0 - 6 60 209 0 0 13.778795 99 60 3639 132 ENST00000259455.2 0.057143 0.999984 ANKS6 203286 __UNKNOWN__ __UNKNOWN__ 9 101495811 101495811 __UNKNOWN__ Intron SNP A A G rs337590 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:101495811A>G ENST00000375019.2 - 15 2028 ANKS6_ENST00000540940.1_Intron|ANKS6_ENST00000375018.1_3'UTR|ANKS6_ENST00000353234.4_3'UTR Q68DC2 ANKS6_HUMAN ankyrin repeat and sterile alpha motif domain containing 6 NA NA cilium (GO:0005929)|cytoplasm (GO:0005737) endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 21 Acute lymphoblastic leukemia(62;0.0527) GAAAAAGGTGACCACCAAGGG 0.592 NA A||| 515 0.102835 0.0174 0.1585 5008 , , NA 18892 0.244 NA 0.0189 False NA ,,, NA NA NA 2504 0.1196 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK094247 CCDS43856.1 9q31.1 2013-09-10 2006-02-17 2006-02-17 ENSG00000165138 ENSG00000165138 203286 Sterile alpha motif (SAM) domain containing, Ankyrin repeat domain containing 26724 protein-coding gene gene with protein product 615370 sterile alpha motif domain containing 6, ankyrin repeat domain 14 SAMD6, ANKRD14 NA 23793029 Standard NM_173551 XM_005251793 NA Approved FLJ36928, NPHP16 uc004ayu.3 Q68DC2 OTTHUMG00000020347 ENST00000375019.2:c.1706-976T>C chr9.hg19:g.101495811A>G NA A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62 hg19 0.02 6.846219 GTGxCCA COVERED NOVEL ANKS6-002 PUTATIVE not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000053378.2 1 6.017575 KEEP 0 0 0 20 618 AA 0.999863 0.999863 0 - 6 60 217 0 0 13.252905 167 60 5782 229 ENST00000375019.2 0.034682 1 ANKS6 203286 __UNKNOWN__ __UNKNOWN__ 9 101496342 101496342 __UNKNOWN__ Intron SNP T T C rs453409 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:101496342T>C ENST00000375019.2 - 15 2028 ANKS6_ENST00000540940.1_Intron|ANKS6_ENST00000375018.1_3'UTR|ANKS6_ENST00000353234.4_3'UTR Q68DC2 ANKS6_HUMAN ankyrin repeat and sterile alpha motif domain containing 6 NA NA cilium (GO:0005929)|cytoplasm (GO:0005737) endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 21 Acute lymphoblastic leukemia(62;0.0527) AACCTACATGTTCCGTGCTGC 0.572 NA T||| 496 0.0990415 0.0038 0.1571 5008 , , NA 18199 0.244 NA 0.0189 False NA ,,, NA NA NA 2504 0.1196 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK094247 CCDS43856.1 9q31.1 2013-09-10 2006-02-17 2006-02-17 ENSG00000165138 ENSG00000165138 203286 Sterile alpha motif (SAM) domain containing, Ankyrin repeat domain containing 26724 protein-coding gene gene with protein product 615370 sterile alpha motif domain containing 6, ankyrin repeat domain 14 SAMD6, ANKRD14 NA 23793029 Standard NM_173551 XM_005251793 NA Approved FLJ36928, NPHP16 uc004ayu.3 Q68DC2 OTTHUMG00000020347 ENST00000375019.2:c.1706-1507A>G chr9.hg19:g.101496342T>C NA A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62 hg19 0.02 11.650076 ATGxTCC COVERED NOVEL ANKS6-002 PUTATIVE not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000053378.2 4 14.137937 KEEP 0 0 0 47 1409 TT 1 1 0 - 12 60 427 1 0 27.688576 249 60 8731 398 ENST00000375019.2 0.045977 1 ANKS6 203286 __UNKNOWN__ __UNKNOWN__ 9 101496346 101496346 __UNKNOWN__ Intron SNP G G A rs439347 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:101496346G>A ENST00000375019.2 - 15 2028 ANKS6_ENST00000540940.1_Intron|ANKS6_ENST00000375018.1_3'UTR|ANKS6_ENST00000353234.4_3'UTR Q68DC2 ANKS6_HUMAN ankyrin repeat and sterile alpha motif domain containing 6 NA NA cilium (GO:0005929)|cytoplasm (GO:0005737) endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 21 Acute lymphoblastic leukemia(62;0.0527) TACATGTTCCGTGCTGCCTCC 0.562 NA G||| 497 0.0992412 0.0038 0.1571 5008 , , NA 18162 0.244 NA 0.0199 False NA ,,, NA NA NA 2504 0.1196 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK094247 CCDS43856.1 9q31.1 2013-09-10 2006-02-17 2006-02-17 ENSG00000165138 ENSG00000165138 203286 Sterile alpha motif (SAM) domain containing, Ankyrin repeat domain containing 26724 protein-coding gene gene with protein product 615370 sterile alpha motif domain containing 6, ankyrin repeat domain 14 SAMD6, ANKRD14 NA 23793029 Standard NM_173551 XM_005251793 NA Approved FLJ36928, NPHP16 uc004ayu.3 Q68DC2 OTTHUMG00000020347 ENST00000375019.2:c.1706-1511C>T chr9.hg19:g.101496346G>A NA A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62 hg19 0.02 11.308843 TCCxTGC COVERED NOVEL ANKS6-002 PUTATIVE not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000053378.2 4 14.117962 KEEP 0 0 0 47 1574 GG 1 1 0 - 12 60 430 1 0 27.516732 254 60 8795 401 ENST00000375019.2 0.045113 1 ANKS6 203286 __UNKNOWN__ __UNKNOWN__ 9 101496508 101496508 __UNKNOWN__ Intron SNP G G A rs337589 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:101496508G>A ENST00000375019.2 - 15 2028 ANKS6_ENST00000540940.1_Intron|ANKS6_ENST00000375018.1_3'UTR|ANKS6_ENST00000353234.4_3'UTR Q68DC2 ANKS6_HUMAN ankyrin repeat and sterile alpha motif domain containing 6 NA NA cilium (GO:0005929)|cytoplasm (GO:0005737) endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 21 Acute lymphoblastic leukemia(62;0.0527) GAAAAAGAAAGGAAAGGCATT 0.498 NA A||| 814 0.16254 0.1884 0.1801 5008 , , NA 18429 0.2609 NA 0.0258 False NA ,,, NA NA NA 2504 0.1544 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK094247 CCDS43856.1 9q31.1 2013-09-10 2006-02-17 2006-02-17 ENSG00000165138 ENSG00000165138 203286 Sterile alpha motif (SAM) domain containing, Ankyrin repeat domain containing 26724 protein-coding gene gene with protein product 615370 sterile alpha motif domain containing 6, ankyrin repeat domain 14 SAMD6, ANKRD14 NA 23793029 Standard NM_173551 XM_005251793 NA Approved FLJ36928, NPHP16 uc004ayu.3 Q68DC2 OTTHUMG00000020347 ENST00000375019.2:c.1706-1673C>T chr9.hg19:g.101496508G>A NA A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62 hg19 0.02 4.027811 AAAxGAA COVERED NOVEL ANKS6-002 PUTATIVE not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000053378.2 0 5.417346 KEEP 0 0 0 18 635 GG 0.999859 0.999859 0 - 6 60 220 0 0 14.289268 125 60 4557 175 ENST00000375019.2 0.045802 1 ANKS6 203286 __UNKNOWN__ __UNKNOWN__ 9 101497501 101497501 __UNKNOWN__ Intron SNP C C T rs337588 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:101497501C>T ENST00000375019.2 - 14 2028 ANKS6_ENST00000540940.1_Intron|ANKS6_ENST00000375018.1_3'UTR|ANKS6_ENST00000353234.4_3'UTR Q68DC2 ANKS6_HUMAN ankyrin repeat and sterile alpha motif domain containing 6 NA NA cilium (GO:0005929)|cytoplasm (GO:0005737) endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 21 Acute lymphoblastic leukemia(62;0.0527) GAACTTTGAAcctgagtccag 0.517 NA C||| 497 0.0992412 0.0038 0.1585 5008 , , NA 20397 0.244 NA 0.0189 False NA ,,, NA NA NA 2504 0.1196 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK094247 CCDS43856.1 9q31.1 2013-09-10 2006-02-17 2006-02-17 ENSG00000165138 ENSG00000165138 203286 Sterile alpha motif (SAM) domain containing, Ankyrin repeat domain containing 26724 protein-coding gene gene with protein product 615370 sterile alpha motif domain containing 6, ankyrin repeat domain 14 SAMD6, ANKRD14 NA 23793029 Standard NM_173551 XM_005251793 NA Approved FLJ36928, NPHP16 uc004ayu.3 Q68DC2 OTTHUMG00000020347 ENST00000375019.2:c.1705+1307G>A chr9.hg19:g.101497501C>T NA A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62 hg19 0.02 12.263473 GAAxCTG COVERED NOVEL ANKS6-002 PUTATIVE not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000053378.2 1 10.534478 KEEP 0 0 0 35 1242 CC 0.999999 0.999999 0 - 11 60 387 0 0 22.905596 327 60 12190 443 ENST00000375019.2 0.032544 1 COL15A1 1306 __UNKNOWN__ __UNKNOWN__ 9 101765841 101765841 __UNKNOWN__ Missense_Mutation SNP C C T rs10988532 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:101765841C>T ENST00000375001.3 + 8 1595 c.1172C>T c.(1171-1173)aCg>aTg p.T391M NM_001855.3 NP_001846.3 P39059 COFA1_HUMAN collagen, type XV, alpha 1 391 4 X tandem repeats.|Nonhelical region 1 (NC1). NA T -> M (in dbSNP:rs10988532). angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165) collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) extracellular matrix structural constituent (GO:0005201) NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) TCTATGTCCACGGAGAACCCA 0.627 NA C||| 85 0.0169728 0.0 0.0 5008 , , NA 19299 0.0804 NA 0.0 False NA ,,, NA NA NA 2504 0.0041 NA NA NA NA 0 C MET/THR 2,4404 4.2+/-10.8 0,2,2201 59 62 61 1172 1.9 0 9 dbSNP_120 61 0,8600 0,0,4300 yes missense COL15A1 NM_001855.3 81 0,2,6501 TT,TC,CC 0.0,0.0454,0.0154 possibly-damaging 391/1389 101765841 2,13004 2203 4300 6503 SO:0001583 missense L25286 CCDS35081.1 9q21-q22 2013-01-16 ENSG00000204291 ENSG00000204291 1306 Proteoglycans / Extracellular Matrix : Collagen proteoglycans, Collagens 2192 protein-coding gene gene with protein product collagen type XV proteoglycan 120325 NA 1427836 Standard NM_001855 NM_001855 NA Approved uc004azb.2 P39059 OTTHUMG00000020351 ENST00000375001.3:c.1172C>T chr9.hg19:g.101765841C>T ENSP00000364140:p.Thr391Met NA Q5T6J4|Q9UDC5|Q9Y4W4 hg19 CCDS35081.1 0.02 4.277585 CCAxGGA COVERED 32 0.014652014652014652 0 0.0 0 0.0 32 0.055944055944055944 0 0.0 C 9.738 1.164001 0.21538 4.54E-4 0.0 ENSG00000204291 ENST00000375001;ENST00000536083 D 0.91464 -2.85 3.77 1.88 0.25563 . 1.237690 0.06044 U 0.655403 T 0.50939 0.1645 L 0.32530 0.975 0.09310 N 1 D 0.54601 0.967 P 0.47744 0.556 T 0.66372 -0.5940 10 0.42905 T 0.14 -5.7342 5.1596 0.15054 0.0:0.6391:0.241:0.12 rs10988532;rs52834121;rs10988532 391 P39059 COFA1_HUMAN M 391;361 ENSP00000364140:T391M ENSP00000364140:T391M T + 2 0 COL15A1 100805662 0.008000 0.16893 0.041000 0.18516 0.066000 0.16364 0.565000 0.23578 0.534000 0.28695 0.561000 0.74099 ACG NOVEL COL15A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053386.3 2 12.339037 KEEP 0 0 0 41 1407 CC 1 1 0 + 6 60 225 0 0 14.463372 142 60 4920 228 ENST00000375001.3 0.040541 1 COL15A1 1306 __UNKNOWN__ __UNKNOWN__ 9 101778265 101778265 __UNKNOWN__ Missense_Mutation SNP G G T rs2297603 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:101778265G>T ENST00000375001.3 + 11 1934 c.1511G>T c.(1510-1512)gGt>gTt p.G504V NM_001855.3 NP_001846.3 P39059 COFA1_HUMAN collagen, type XV, alpha 1 504 4 X tandem repeats.|Nonhelical region 1 (NC1). NA G -> V (in dbSNP:rs2297603). angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165) collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) extracellular matrix structural constituent (GO:0005201) NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) CAGGGTCCTGGTGATGAAGAA 0.592 NA G||| 427 0.0852636 0.0053 0.1196 5008 , , NA 16779 0.2133 NA 0.0885 False NA ,,, NA NA NA 2504 0.0337 NA NA NA NA 0 G VAL/GLY 93,4313 73.6+/-111.7 2,89,2112 66 62 63 1511 -1.9 0 9 dbSNP_100 63 929,7671 201.3+/-244.8 48,833,3419 yes missense COL15A1 NM_001855.3 109 50,922,5531 TT,TG,GG 10.8023,2.1108,7.8579 probably-damaging 504/1389 101778265 1022,11984 2203 4300 6503 SO:0001583 missense L25286 CCDS35081.1 9q21-q22 2013-01-16 ENSG00000204291 ENSG00000204291 1306 Proteoglycans / Extracellular Matrix : Collagen proteoglycans, Collagens 2192 protein-coding gene gene with protein product collagen type XV proteoglycan 120325 NA 1427836 Standard NM_001855 NM_001855 NA Approved uc004azb.2 P39059 OTTHUMG00000020351 ENST00000375001.3:c.1511G>T chr9.hg19:g.101778265G>T ENSP00000364140:p.Gly504Val NA Q5T6J4|Q9UDC5|Q9Y4W4 hg19 CCDS35081.1 0.02 3.935752 CTGxTGA COVERED 238 0.10897435897435898 8 0.016260162601626018 47 0.1298342541436464 115 0.20104895104895104 68 0.08970976253298153 G 8.560 0.877531 0.17395 0.021108 0.108023 ENSG00000204291 ENST00000375001;ENST00000536083 D 0.89875 -2.58 3.93 -1.87 0.07737 . 15.702500 0.00604 N 0.000385 T 0.00384 0.0012 L 0.50333 1.59 0.80722 P 0.0 B 0.14438 0.01 B 0.10450 0.005 T 0.41645 -0.9497 9 0.66056 D 0.02 . 1.185 0.01853 0.2164:0.343:0.278:0.1626 rs2297603;rs17617726;rs52813576;rs2297603 504 P39059 COFA1_HUMAN V 504;474 ENSP00000364140:G504V ENSP00000364140:G504V G + 2 0 COL15A1 100818086 0.003000 0.15002 0.000000 0.03702 0.002000 0.02628 0.248000 0.18198 -0.153000 0.11137 0.650000 0.86243 GGT NOVEL COL15A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053386.3 4 14.447151 KEEP 0 0 0 48 1703 GG 1 1 0 + 6 60 206 0 0 12.916714 124 60 4482 237 ENST00000375001.3 0.046154 1 COL15A1 1306 __UNKNOWN__ __UNKNOWN__ 9 101787017 101787017 __UNKNOWN__ Intron SNP T T G rs7028686 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:101787017T>G ENST00000375001.3 + 15 2277 NM_001855.3 NP_001846.3 P39059 COFA1_HUMAN collagen, type XV, alpha 1 NA NA angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165) collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) extracellular matrix structural constituent (GO:0005201) NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) ctgagccttattttccgcatc 0.433 NA G||| 1648 0.329073 0.351 0.2839 5008 , , NA 20368 0.4276 NA 0.168 False NA ,,, NA NA NA 2504 0.3957 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L25286 CCDS35081.1 9q21-q22 2013-01-16 ENSG00000204291 ENSG00000204291 1306 Proteoglycans / Extracellular Matrix : Collagen proteoglycans, Collagens 2192 protein-coding gene gene with protein product collagen type XV proteoglycan 120325 NA 1427836 Standard NM_001855 NM_001855 NA Approved uc004azb.2 P39059 OTTHUMG00000020351 ENST00000375001.3:c.1855-139T>G chr9.hg19:g.101787017T>G NA Q5T6J4|Q9UDC5|Q9Y4W4 hg19 CCDS35081.1 0.02 6.577501 TTAxTTT COVERED NOVEL COL15A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053386.3 0 7.219985 KEEP 0 0 0 24 702 TT 0.999909 0.999909 0 + 6 60 225 0 0 14.288537 152 60 5534 194 ENST00000375001.3 0.037975 1 COL15A1 1306 __UNKNOWN__ __UNKNOWN__ 9 101810159 101810159 __UNKNOWN__ Intron SNP G G A rs3737146 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:101810159G>A ENST00000375001.3 + 27 3156 NM_001855.3 NP_001846.3 P39059 COFA1_HUMAN collagen, type XV, alpha 1 NA NA angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165) collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) extracellular matrix structural constituent (GO:0005201) NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) TGGAGGGGGAGGACACGTGGG 0.597 NA G||| 276 0.0551118 0.0136 0.0576 5008 , , NA 16139 0.129 NA 0.001 False NA ,,, NA NA NA 2504 0.089 NA NA NA NA 0 G 53,4353 48.9+/-83.8 0,53,2150 83 81 82 0.4 0 9 dbSNP_107 82 16,8584 9.8+/-36.6 0,16,4284 no intron COL15A1 NM_001855.3 0,69,6434 AA,AG,GG 0.186,1.2029,0.5305 101810159 69,12937 2203 4300 6503 SO:0001627 intron_variant L25286 CCDS35081.1 9q21-q22 2013-01-16 ENSG00000204291 ENSG00000204291 1306 Proteoglycans / Extracellular Matrix : Collagen proteoglycans, Collagens 2192 protein-coding gene gene with protein product collagen type XV proteoglycan 120325 NA 1427836 Standard NM_001855 NM_001855 NA Approved uc004azb.2 P39059 OTTHUMG00000020351 ENST00000375001.3:c.2733+38G>A chr9.hg19:g.101810159G>A NA Q5T6J4|Q9UDC5|Q9Y4W4 hg19 CCDS35081.1 0.02 1.689966 GGAxGAC COVERED NOVEL COL15A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053386.3 1 7.202863 KEEP 0 0 0 24 811 GG 0.999909 0.99979 0 + 5 60 178 0 0 11.777886 86 60 3115 144 ENST00000375001.3 0.054945 0.999881 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 102164062 102164062 __UNKNOWN__ IGR SNP G G A rs10988806 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:102164062G>A NA NA NAMA (26553 upstream) : RP11-547C13.1 (129915 downstream) NA NA NA ccaaaataaagggcctcaatc 0.453 NA G||| 282 0.0563099 0.0098 0.0461 5008 , , NA 18807 0.0913 NA 0.0696 False NA ,,, NA NA NA 2504 0.0767 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.102164062G>A NA hg19 0.02 2.078067 AAAxGGC COVERED NOVEL 0 1 6.62146 KEEP 0 0 0 22 807 GG 0.999879 0.999196 0 5 60 181 0 0 12.341733 76 60 2789 138 0.061728 0.999317 NR4A3 8013 __UNKNOWN__ __UNKNOWN__ 9 102627302 102627302 __UNKNOWN__ 3'UTR SNP A A G rs1131339 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:102627302A>G ENST00000395097.2 + 0 3763 NR4A3_ENST00000330847.1_3'UTR NM_006981.3|NM_173200.2 NP_008912.2|NP_775292.1 Q92570 NR4A3_HUMAN nuclear receptor subfamily 4, group A, member 3 NA NA gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|transcription initiation from RNA polymerase II promoter (GO:0006367) nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270) TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2) NA Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189) AAAGATTTAAAAAATAGTATG 0.308 NA T EWSR1 extraskeletal myxoid chondrosarcoma A||| 1796 0.358626 0.2625 0.4121 5008 , , NA 13774 0.3393 NA 0.5905 False NA ,,, NA NA NA 2504 0.2321 NA NA NA Dom yes 9 9q22 8013 nuclear receptor subfamily 4, group A, member 3 (NOR1) M 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U12767 CCDS6742.1, CCDS6743.1, CCDS6744.1 9q22 2013-01-16 ENSG00000119508 ENSG00000119508 8013 Nuclear hormone receptors 7982 protein-coding gene gene with protein product 600542 NA 8614405 Standard NM_006981 NA Approved CSMF, CHN, NOR1, MINOR uc004baf.1 Q92570 OTTHUMG00000021030 ENST00000395097.2:c.*1153A>G chr9.hg19:g.102627302A>G NA A2A3I7|Q12935|Q14979|Q16420|Q4VXA8|Q4VXA9|Q9UEK2|Q9UEK3 hg19 CCDS6743.1 0.02 9.600326 TAAxAAA COVERED NOVEL NR4A3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055482.1 1 28.585031 KEEP 0 0 0 95 2989 AA 1 1 0 + 11 60 413 0 0 27.074959 234 70 8564 435 ENST00000395097.2 0.044898 1 TMEM246 84302 __UNKNOWN__ __UNKNOWN__ 9 104238142 104238142 __UNKNOWN__ 3'UTR SNP A A C rs15889 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:104238142A>C ENST00000374851.1 - 0 2380 TMEM246_ENST00000374847.1_3'UTR|RP11-490D19.6_ENST00000431507.1_RNA|RP11-490D19.6_ENST00000450109.1_RNA|RP11-490D19.6_ENST00000424154.1_RNA|TMEM246_ENST00000374848.3_3'UTR|RP11-490D19.6_ENST00000425734.1_RNA Q9BRR3 TM246_HUMAN transmembrane protein 246 NA NA integral component of membrane (GO:0016021) NA GGCCAACTTCAGAAAGGCATC 0.443 NA A||| 1616 0.322684 0.388 0.3588 5008 , , NA 20107 0.3998 NA 0.173 False NA ,,, NA NA NA 2504 0.2832 NA NA NA NA 0 A 1533,2873 485.3+/-360.3 276,981,946 74 80 78 -1.9 0 9 dbSNP_52 78 1509,7091 285.8+/-297.4 130,1249,2921 no utr-3 C9orf125 NM_032342.1 406,2230,3867 CC,CA,AA 17.5465,34.7935,23.3892 104238142 3042,9964 2203 4300 6503 SO:0001624 3_prime_UTR_variant BC006115 CCDS6757.1 9q31.1 2012-04-02 2012-04-02 2012-04-02 ENSG00000165152 ENSG00000165152 84302 28180 protein-coding gene gene with protein product chromosome 9 open reading frame 125 C9orf125 NA 12477932 Standard NM_032342 NM_032342 NA Approved MGC12992 uc004bbm.3 Q9BRR3 OTTHUMG00000020381 ENST00000374851.1:c.*21T>G chr9.hg19:g.104238142A>C NA Q49AQ4 hg19 CCDS6757.1 0.02 28.822138 TTCxGAA COVERED NOVEL TMEM246-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053444.1 2 39.240544 KEEP 0 1 36 143 4586 AA 1 1 0 - 19 60 656 1 0 36.073351 746 60 27868 1151 ENST00000374851.1 0.024837 1 RNF20 56254 __UNKNOWN__ __UNKNOWN__ 9 104309354 104309354 __UNKNOWN__ Intron SNP G G A rs147035494 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:104309354G>A ENST00000389120.3 + 8 984 NM_019592.5 NP_062538.5 Q5VTR2 BRE1A_HUMAN ring finger protein 20, E3 ubiquitin protein ligase NA NA histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511) HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151) chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311) ATCCTTTGAAGGTACATTGGT 0.398 NA G||| 5 0.000998403 0.0 0.0 5008 , , NA 19044 0.005 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF265230 CCDS35084.1 9q22 2012-02-23 2012-02-23 2008-12-12 ENSG00000155827 ENSG00000155827 56254 RING-type (C3HC4) zinc fingers 10062 protein-coding gene gene with protein product BRE1 E3 ubiquitin ligase homolog (S. cerevisiae) 607699 ring finger protein 20 NA 16337599, 12876294, 18832071, 19037095 Standard NM_019592 NM_019592 NA Approved FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1 uc004bbn.3 Q5VTR2 OTTHUMG00000020385 ENST00000389120.3:c.895-65G>A chr9.hg19:g.104309354G>A NA A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83 hg19 CCDS35084.1 0.02 12.797335 GAAxGTA COVERED NOVEL RNF20-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000356402.1 0 9.028481 KEEP 0 0 0 30 1017 GG 0.999997 0.999997 0 + 14 60 515 0 0 32.952094 320 60 11832 373 ENST00000389120.3 0.041916 1 GRIN3A 116443 __UNKNOWN__ __UNKNOWN__ 9 104500851 104500851 __UNKNOWN__ 5'UTR SNP A A G rs184477446 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:104500851A>G ENST00000361820.3 - 0 11 NM_133445.2 NP_597702.2 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3A NA NA calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249) cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202) calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721) breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193) TTCTCTCGCTACTTCCTCTCT 0.592 NA A||| 6 0.00119808 0.0 0.0 5008 , , NA 15071 0.005 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant CCDS6758.1 9q31.1 2012-08-29 ENSG00000198785 ENSG00000198785 116443 Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors 16767 protein-coding gene gene with protein product 606650 NA Standard NM_133445 NA Approved GluN3A uc004bbp.2 Q8TCU5 OTTHUMG00000020387 ENST00000361820.3:c.-590T>C chr9.hg19:g.104500851A>G NA B3DLF9|Q5VTR3|Q8TF29|Q8WXI6 hg19 CCDS6758.1 0.02 11.291582 GCTxCTT COVERED NOVEL GRIN3A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053453.1 0 9.900038 KEEP 0 0 0 33 942 AA 0.999998 0.999998 0 - 9 60 343 0 0 21.334615 270 60 8890 392 ENST00000361820.3 0.032258 1 CYLC2 1539 __UNKNOWN__ __UNKNOWN__ 9 105768202 105768202 __UNKNOWN__ 3'UTR SNP T T A rs12057060 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:105768202T>A ENST00000374798.3 + 0 1359 CYLC2_ENST00000487798.1_3'UTR NM_001340.3 NP_001331.1 Q14093 CYLC2_HUMAN cylicin, basic protein of sperm head cytoskeleton 2 NA NA cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634) structural constituent of cytoskeleton (GO:0005200) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2) 41 all_hematologic(171;0.125) catatacttatattcggggat 0.299 NA N||| 233 0.0465256 0.0 0.0043 5008 , , NA 13060 0.2103 NA 0.0109 False NA ,,, NA NA NA 2504 0.0072 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Z46788 CCDS35085.1 9q31.2 2008-07-21 ENSG00000155833 ENSG00000155833 1539 2583 protein-coding gene gene with protein product 604035 NA 7737358 Standard NM_001340 NM_001340 NA Approved uc004bbs.2 Q14093 OTTHUMG00000020396 ENST00000374798.3:c.*242T>A chr9.hg19:g.105768202T>A NA B2R8F4|Q5VVJ9 hg19 CCDS35085.1 0.02 2.018476 TTAxATT COVERED NOVEL CYLC2-001 KNOWN alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000053463.3 0 3.610738 KEEP 0 0 0 12 376 TT 0.993634 0.987376 0 + 4 60 144 0 0 9.786888 61 60 2182 92 ENST00000374798.3 0.061538 0.993703 RP11-341A22.2 0 __UNKNOWN__ __UNKNOWN__ 9 105968807 105968807 __UNKNOWN__ lincRNA SNP C C A rs7856077 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:105968807C>A ENST00000411575.1 - 0 870 NA NA NA AAACCACTTACAATAAAATTG 0.368 NA -||| 2670 0.533147 0.612 0.4006 5008 , , NA 15627 0.7361 NA 0.4016 False NA ,,, NA NA NA 2504 0.4468 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000411575.1: chr9.hg19:g.105968807C>A NA hg19 0.02 4.576609 TTAxAAT COVERED NOVEL RP11-341A22.2-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000053466.1 1 3.912805 KEEP 0 0 0 13 461 CC 0.994391 0.994368 0 - 8 60 291 0 0 20.726248 95 60 3260 146 ENST00000411575.1 0.07767 0.999978 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 106528467 106528467 __UNKNOWN__ IGR SNP A A G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:106528467A>G NA NA RNA5SP291 (76608 upstream) : RP11-82L2.1 (313837 downstream) NA NA NA ggtgttggctattgtttctgc 0.368 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.106528467A>G NA hg19 0.02 2.46437 GCTxTTG COVERED NOVEL 0 0 3.008312 KEEP 0 0 0 10 292 AA 0.992708 0.989891 0 4 60 150 0 0 10.226451 67 60 2450 96 0.056338 0.997163 SMC2 10592 __UNKNOWN__ __UNKNOWN__ 9 106882458 106882458 __UNKNOWN__ Intron SNP T T G rs187109827 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:106882458T>G ENST00000286398.7 + 16 2420 SMC2_ENST00000374787.3_Intron|SMC2_ENST00000303219.8_Intron|SMC2_ENST00000374793.3_Intron NM_001042551.1|NM_001265602.1|NM_006444.2 NP_001036016.1|NP_001252531.1|NP_006435.2 O95347 SMC2_HUMAN structural maintenance of chromosomes 2 NA NA kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076) condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982) breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 48 GAACTGCATATACTTTTTTTA 0.308 NA T||| 5 0.000998403 0.0 0.0 5008 , , NA 15107 0.005 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 49 57 54 NA NA 9 NA 106882458 2193 4296 6489 SO:0001627 intron_variant AF092563 CCDS35086.1 9q31.1 2008-05-14 2006-07-06 2006-07-06 ENSG00000136824 ENSG00000136824 10592 Structural maintenance of chromosomes proteins 14011 protein-coding gene gene with protein product 605576 SMC2 (structural maintenance of chromosomes 2, yeast)-like 1, SMC2 structural maintenance of chromosomes 2-like 1 (yeast) SMC2L1 NA 9789013 Standard NM_006444 NA Approved hCAP-E, CAP-E uc011lvl.2 O95347 OTTHUMG00000020401 ENST00000286398.7:c.2132+15T>G chr9.hg19:g.106882458T>G NA Q6IEE0|Q9P1P2 hg19 CCDS35086.1 0.02 2.057674 ATAxACT COVERED NOVEL SMC2-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053470.1 1 4.21 KEEP 0 0 0 14 398 TT 0.995343 0.992908 0 + 5 60 186 0 0 13.106941 67 60 2235 92 ENST00000286398.7 0.069444 0.997553 OR13F1 138805 __UNKNOWN__ __UNKNOWN__ 9 107267352 107267352 __UNKNOWN__ Missense_Mutation SNP T T C rs7847413 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:107267352T>C ENST00000334726.2 + 1 898 c.809T>C c.(808-810)aTa>aCa p.I270T NM_001004485.1 NP_001004485.1 Q8NGS4 O13F1_HUMAN olfactory receptor, family 13, subfamily F, member 1 270 NA I -> T (in dbSNP:rs7847413). integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 TCACAGGAAATAGACAAATTT 0.468 NA T||| 1178 0.235224 0.3457 0.1427 5008 , , NA 17624 0.3284 NA 0.1054 False NA ,,, NA NA NA 2504 0.1892 NA NA NA NA 0 T THR/ILE 1394,3012 458.2+/-351.9 217,960,1026 86 84 84 809 1.9 0.9 9 dbSNP_116 84 852,7748 194.2+/-239.7 52,748,3500 yes missense OR13F1 NM_001004485.1 89 269,1708,4526 CC,CT,TT 9.907,31.6387,17.269 benign 270/320 107267352 2246,10760 2203 4300 6503 SO:0001583 missense CCDS35087.1 9q31.1 2013-09-24 ENSG00000186881 ENSG00000186881 138805 GPCR / Class A : Olfactory receptors 14723 protein-coding gene gene with protein product NA Standard NM_001004485 NA Approved uc011lvm.2 Q8NGS4 OTTHUMG00000020404 ENST00000334726.2:c.809T>C chr9.hg19:g.107267352T>C ENSP00000334452:p.Ile270Thr NA Q6IF50 hg19 CCDS35087.1 0.02 21.609098 AAAxAGA COVERED 471 0.21565934065934067 160 0.3252032520325203 43 0.11878453038674033 188 0.32867132867132864 80 0.10554089709762533 T 6.365 0.435499 0.12045 0.316387 0.09907 ENSG00000186881 ENST00000334726 T 0.00115 8.71 4.3 1.92 0.25849 GPCR, rhodopsin-like superfamily (1); 0.265123 0.27613 N 0.018596 T 0.00012 0.0000 N 0.11000 0.08 0.46631 P 8.629999999999471E-4 B 0.16166 0.016 B 0.18871 0.023 T 0.00102 -1.2062 9 0.22706 T 0.39 . 7.4916 0.27464 0.0:0.1872:0.0:0.8128 rs7847413;rs52823428;rs7847413 270 Q8NGS4 O13F1_HUMAN T 270 ENSP00000334452:I270T ENSP00000334452:I270T I + 2 0 OR13F1 106307173 0.000000 0.05858 0.942000 0.38095 0.995000 0.86356 0.026000 0.13599 0.419000 0.25927 0.533000 0.62120 ATA NOVEL OR13F1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053475.1 0 15.645559 KEEP 0 0 0 52 1591 TT 1 1 0 + 20 60 741 0 0 48.13243 445 60 16157 591 ENST00000334726.2 0.043011 1 NIPSNAP3B 55335 __UNKNOWN__ __UNKNOWN__ 9 107531127 107531127 __UNKNOWN__ Intron SNP C C T rs12351524 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:107531127C>T ENST00000374762.3 + 3 342 NIPSNAP3B_ENST00000461177.1_Intron NM_018376.2 NP_060846.2 Q9BS92 NPS3B_HUMAN nipsnap homolog 3B (C. elegans) NA NA breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 11 ATTTTCTTAACTATTTTCCTC 0.353 NA .||| 1214 0.242412 0.2791 0.281 5008 , , NA 15685 0.4653 NA 0.0964 False NA ,,, NA NA NA 2504 0.0859 NA NA NA NA 0 T 1032,3374 711.8+/-408.0 118,796,1289 38 38 38 0.9 0 9 dbSNP_120 38 799,7801 777.8+/-407.7 35,729,3536 no intron NIPSNAP3B NM_018376.2 153,1525,4825 TT,TC,CC 9.2907,23.4226,14.0781 107531127 1831,11175 2203 4300 6503 SO:0001627 intron_variant BC017914 CCDS6761.1 9q31.3 2003-11-27 ENSG00000165028 ENSG00000165028 55335 23641 protein-coding gene gene with protein product 608872 NA 12477932 Standard NM_018376 NM_018376 NA Approved FLJ11275 uc004bci.3 Q9BS92 OTTHUMG00000020414 ENST00000374762.3:c.272-17C>T chr9.hg19:g.107531127C>T NA Q5VX30|Q9NUM2 hg19 CCDS6761.1 0.02 4.19164 TAAxTAT COVERED NOVEL NIPSNAP3B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053486.1 2 6.319382 KEEP 0 0 0 21 706 CC 0.999869 0.999869 0 + 6 60 224 0 0 14.607035 129 60 4666 164 ENST00000374762.3 0.044444 1 NIPSNAP3B 55335 __UNKNOWN__ __UNKNOWN__ 9 107535492 107535492 __UNKNOWN__ 3'UTR SNP A A G rs28379689 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:107535492A>G ENST00000374762.3 + 0 953 NM_018376.2 NP_060846.2 Q9BS92 NPS3B_HUMAN nipsnap homolog 3B (C. elegans) NA NA breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 11 TGCTTCTTGCATTTTTGAAAG 0.348 NA A||| 424 0.0846645 0.0741 0.036 5008 , , NA 17113 0.2262 NA 0.0169 False NA ,,, NA NA NA 2504 0.0573 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC017914 CCDS6761.1 9q31.3 2003-11-27 ENSG00000165028 ENSG00000165028 55335 23641 protein-coding gene gene with protein product 608872 NA 12477932 Standard NM_018376 NM_018376 NA Approved FLJ11275 uc004bci.3 Q9BS92 OTTHUMG00000020414 ENST00000374762.3:c.*138A>G chr9.hg19:g.107535492A>G NA Q5VX30|Q9NUM2 hg19 CCDS6761.1 0.02 6.337342 TGCxTTT COVERED NOVEL NIPSNAP3B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053486.1 3 14.745247 KEEP 0 0 0 49 1564 AA 1 1 0 + 7 60 247 1 0 15.302157 167 60 6204 270 ENST00000374762.3 0.04023 1 ABCA1 19 __UNKNOWN__ __UNKNOWN__ 9 107591272 107591272 __UNKNOWN__ Silent SNP G G T rs2853579 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:107591272G>T ENST00000374736.3 - 15 2434 c.2040C>A c.(2038-2040)atC>atA p.I680I ABCA1_ENST00000494467.1_5'UTR NM_005502.3 NP_005493.2 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A (ABC1), member 1 680 NA apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281) endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886) anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905) NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599) TAAACCAGAGGATGCTGTTGT 0.532 NA G||| 1698 0.339058 0.4607 0.2075 5008 , , NA 21588 0.6855 NA 0.1213 False NA ,,, NA NA NA 2504 0.135 NA NA NA NA 0 G 1831,2575 535.3+/-374.2 404,1023,776 144 112 123 2040 6 1 9 dbSNP_100 123 1084,7516 226.5+/-262.2 66,952,3282 no coding-synonymous ABCA1 NM_005502.3 470,1975,4058 TT,TG,GG http://www.ncbi.nlm.nih.gov/pubmed?term 12.6047,41.557,22.4127 680/2262 107591272 2915,10091 2203 4300 6503 SO:0001819 synonymous_variant AJ012376 CCDS6762.1 9q31 2014-03-14 ENSG00000165029 ENSG00000165029 19 ATP binding cassette transporters / subfamily A 29 protein-coding gene gene with protein product Tangier disease 600046 ABC1, HDLDT1 NA 8088782, 10431236, 10431237, 10431238 Standard NM_005502 NM_005502 NA Approved TGD uc004bcl.3 O95477 OTTHUMG00000020417 ENST00000374736.3:c.2040C>A chr9.hg19:g.107591272G>T NA Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09 hg19 CCDS6762.1 0.02 7.249703 GAGxATG COVERED NOVEL ABCA1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053491.1 0 18.957368 KEEP 0 0 0 63 2163 GG 1 1 0 - 7 60 244 0 0 14.009347 233 60 8784 375 ENST00000374736.3 0.029167 1 ABCA1 19 __UNKNOWN__ __UNKNOWN__ 9 107593182 107593182 __UNKNOWN__ Intron SNP A A T rs4743763 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:107593182A>T ENST00000374736.3 - 14 2287 ABCA1_ENST00000494467.1_Intron NM_005502.3 NP_005493.2 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A (ABC1), member 1 NA NA apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281) endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886) anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905) NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599) ACTGGTTAAAAACAGTGGCTT 0.443 NA T||| 2742 0.547524 0.8427 0.4092 5008 , , NA 16916 0.7887 NA 0.2614 False NA ,,, NA NA NA 2504 0.2924 NA NA NA NA 0 T 3311,1095 395.1+/-329.5 1246,819,138 221 211 214 2.6 0 9 dbSNP_111 214 2405,6195 700.5+/-405.2 343,1719,2238 no intron ABCA1 NM_005502.3 1589,2538,2376 TT,TA,AA 27.9651,24.8525,43.9489 107593182 5716,7290 2203 4300 6503 SO:0001627 intron_variant AJ012376 CCDS6762.1 9q31 2014-03-14 ENSG00000165029 ENSG00000165029 19 ATP binding cassette transporters / subfamily A 29 protein-coding gene gene with protein product Tangier disease 600046 ABC1, HDLDT1 NA 8088782, 10431236, 10431237, 10431238 Standard NM_005502 NM_005502 NA Approved TGD uc004bcl.3 O95477 OTTHUMG00000020417 ENST00000374736.3:c.1892+23T>A chr9.hg19:g.107593182A>T NA Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09 hg19 CCDS6762.1 0.02 2.191026 AAAxACA COVERED NOVEL ABCA1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053491.1 0 4.213242 KEEP 0 0 0 14 458 AA 0.995343 0.99105 0 - 4 60 143 0 0 9.604727 64 60 2290 95 ENST00000374736.3 0.058824 0.995687 ABCA1 19 __UNKNOWN__ __UNKNOWN__ 9 107620867 107620867 __UNKNOWN__ Missense_Mutation SNP C C T rs2230806 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:107620867C>T ENST00000374736.3 - 7 1050 c.656G>A c.(655-657)aGg>aAg p.R219K ABCA1_ENST00000423487.2_Missense_Mutation_p.R219K NM_005502.3 NP_005493.2 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A (ABC1), member 1 219 NA R -> K (common polymorphism; associated with a decreased severity of CAD; dbSNP:rs2230806). {ECO:0000269|PubMed:10938021, ECO:0000269|PubMed:11238261, ECO:0000269|PubMed:11257261, ECO:0000269|PubMed:11476965, ECO:0000269|PubMed:12624133, ECO:0000269|PubMed:12966036, ECO:0000269|PubMed:15520867}. apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281) endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886) anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905) p.R219K(1) NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599) CAGTTTCTCCCTTGGTAGGCC 0.468 NA C||| 2202 0.439696 0.7103 0.3487 5008 , , NA 19674 0.4147 NA 0.2425 False NA ,,, NA NA NA 2504 0.3671 NA NA NA NA 1 Substitution - Missense(1) stomach(1) GRCh37 CM030397 ABCA1 M rs2230806 C LYS/ARG 2672,1734 648.2+/-398.7 820,1032,351 154 151 152 http://www.ncbi.nlm.nih.gov/sites/varvu?gene 656 0.1 0.2 9 dbSNP_98 152 2420,6180 400.1+/-346.7 322,1776,2202 yes missense ABCA1 NM_005502.3 26 1142,2808,2553 TT,TC,CC 28.1395,39.3554,39.1512 benign 219/2262 107620867 5092,7914 2203 4300 6503 SO:0001583 missense AJ012376 CCDS6762.1 9q31 2014-03-14 ENSG00000165029 ENSG00000165029 19 ATP binding cassette transporters / subfamily A 29 protein-coding gene gene with protein product Tangier disease 600046 ABC1, HDLDT1 NA 8088782, 10431236, 10431237, 10431238 Standard NM_005502 NM_005502 NA Approved TGD uc004bcl.3 O95477 OTTHUMG00000020417 ENST00000374736.3:c.656G>A chr9.hg19:g.107620867C>T ENSP00000363868:p.Arg219Lys NA Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09 hg19 CCDS6762.1 0.02 4.502016 TCCxTTG COVERED 916 0.4194139194139194 356 0.7235772357723578 127 0.35082872928176795 250 0.4370629370629371 183 0.24142480211081793 C 7.792 0.711767 0.15306 0.606446 0.281395 ENSG00000165029 ENST00000374736;ENST00000423487 D;D 0.94931 -2.23;-3.56 6.17 0.0573 0.14322 . 0.632115 0.18950 N 0.126712 T 0.00012 0.0000 N 0.04880 -0.145 0.28835 P 0.896936 B 0.02656 0.0 B 0.01281 0.0 T 0.46119 -0.9214 9 0.16896 T 0.51 . 8.2419 0.31665 0.0:0.3764:0.0:0.6236 rs2230806;rs2234884;rs2853572;rs52801000;rs61696010;rs2230806 219 O95477 ABCA1_HUMAN K 219 ENSP00000363868:R219K;ENSP00000416623:R219K ENSP00000363868:R219K R - 2 0 ABCA1 106660688 0.825000 0.29262 0.227000 0.23927 0.534000 0.34807 0.318000 0.19504 0.083000 0.17047 0.655000 0.94253 AGG NOVEL ABCA1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053491.1 1 5.417418 KEEP 0 0 0 18 626 CC 0.999859 0.999853 0 - 7 60 264 0 0 18.400132 104 60 3709 147 ENST00000374736.3 0.063063 0.999994 ABCA1 19 __UNKNOWN__ __UNKNOWN__ 9 107623750 107623750 __UNKNOWN__ Intron SNP T T G rs2487059 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:107623750T>G ENST00000374736.3 - 6 938 ABCA1_ENST00000423487.2_Intron|ABCA1_ENST00000374733.1_3'UTR NM_005502.3 NP_005493.2 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A (ABC1), member 1 NA NA apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281) endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886) anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905) NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599) TTTAACCAGCTGGCCCATGAC 0.373 NA T||| 1635 0.326478 0.2844 0.3156 5008 , , NA 19784 0.4196 NA 0.2316 False NA ,,, NA NA NA 2504 0.3926 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ012376 CCDS6762.1 9q31 2014-03-14 ENSG00000165029 ENSG00000165029 19 ATP binding cassette transporters / subfamily A 29 protein-coding gene gene with protein product Tangier disease 600046 ABC1, HDLDT1 NA 8088782, 10431236, 10431237, 10431238 Standard NM_005502 NM_005502 NA Approved TGD uc004bcl.3 O95477 OTTHUMG00000020417 ENST00000374736.3:c.543+209A>C chr9.hg19:g.107623750T>G NA Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09 hg19 CCDS6762.1 0.02 5.347389 AGCxGGC COVERED NOVEL ABCA1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053491.1 0 8.726403 KEEP 0 0 0 29 927 TT 0.999997 0.999997 0 - 16 60 501 0 0 33.69598 180 60 6795 270 ENST00000374736.3 0.081633 1 ABCA1 19 __UNKNOWN__ __UNKNOWN__ 9 107624029 107624029 __UNKNOWN__ Silent SNP C C T rs2230805 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:107624029C>T ENST00000374736.3 - 6 868 c.474G>A c.(472-474)ctG>ctA p.L158L ABCA1_ENST00000423487.2_Silent_p.L158L|ABCA1_ENST00000374733.1_Silent_p.L98L NM_005502.3 NP_005493.2 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A (ABC1), member 1 158 NA apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281) endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886) anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905) p.L158L(1) NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599) GGTTGTGATACAGGAACCCAG 0.413 NA C||| 1865 0.372404 0.4887 0.3184 5008 , , NA 18535 0.4008 NA 0.2276 False NA ,,, NA NA NA 2504 0.3732 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) C 1910,2496 544.9+/-376.7 422,1066,715 148 151 150 http://www.ncbi.nlm.nih.gov/sites/varvu?gene 474 3.1 0.8 9 dbSNP_98 150 2281,6319 384.2+/-341.0 302,1677,2321 no coding-synonymous ABCA1 NM_005502.3 724,2743,3036 TT,TC,CC 26.5233,43.35,32.2236 158/2262 107624029 4191,8815 2203 4300 6503 SO:0001819 synonymous_variant AJ012376 CCDS6762.1 9q31 2014-03-14 ENSG00000165029 ENSG00000165029 19 ATP binding cassette transporters / subfamily A 29 protein-coding gene gene with protein product Tangier disease 600046 ABC1, HDLDT1 NA 8088782, 10431236, 10431237, 10431238 Standard NM_005502 NM_005502 NA Approved TGD uc004bcl.3 O95477 OTTHUMG00000020417 ENST00000374736.3:c.474G>A chr9.hg19:g.107624029C>T NA Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09 hg19 CCDS6762.1 0.02 19.456299 ATAxAGG COVERED NOVEL ABCA1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053491.1 1 25.88522 KEEP 0 0 0 86 3124 CC 1 1 0 - 16 60 590 1 0 36.483055 444 60 17110 682 ENST00000374736.3 0.034783 1 FSD1L 83856 __UNKNOWN__ __UNKNOWN__ 9 108312158 108312158 __UNKNOWN__ 3'UTR SNP A A T rs41277785 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:108312158A>T ENST00000374707.1 + 0 4506 FSD1L_ENST00000374710.3_3'UTR Q9BXM9 FSD1L_HUMAN fibronectin type III and SPRY domain containing 1-like NA NA NS(1)|endometrium(1) 2 AAACAATTGGAAAAGTATATG 0.234 NA A||| 904 0.180511 0.2436 0.1916 5008 , , NA 12992 0.0575 NA 0.2833 False NA ,,, NA NA NA 2504 0.1084 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF316830 CCDS6765.2, CCDS47999.1, CCDS6765.3, CCDS75870.1 9q31 2013-02-11 2006-03-10 2006-03-10 ENSG00000106701 ENSG00000106701 83856 Fibronectin type III domain containing 13753 protein-coding gene gene with protein product 609829 cystatin and DUF19 domain containing 1, coiled-coil domain containing 10 CSDUFD1, CCDC10, FSD1NL, FSD1CL NA 11267680 Standard NM_207647 XM_005252254 NA Approved uc004bcq.2 Q9BXM9 OTTHUMG00000020426 ENST00000374707.1:c.*3394A>T chr9.hg19:g.108312158A>T NA A2A338|A6NKH7|B7Z5S6|B7Z5W3|Q5T879|Q5T880 hg19 0.02 1.971701 TGGxAAA COVERED NOVEL FSD1L-001 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000053511.1 0 4.212737 KEEP 0 0 0 14 446 AA 0.995343 0.995238 0 + 5 60 185 0 0 12.428472 88 60 3126 124 ENST00000374707.1 0.053763 0.999895 FSD1L 83856 __UNKNOWN__ __UNKNOWN__ 9 108314287 108314287 __UNKNOWN__ 3'UTR SNP T T C rs10491808 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:108314287T>C ENST00000374707.1 + 0 6635 FSD1L_ENST00000374710.3_3'UTR Q9BXM9 FSD1L_HUMAN fibronectin type III and SPRY domain containing 1-like NA NA NS(1)|endometrium(1) 2 TTCAAAATCTTGTTAACCTGG 0.299 NA T||| 905 0.180711 0.2436 0.1916 5008 , , NA 19345 0.0575 NA 0.2843 False NA ,,, NA NA NA 2504 0.1084 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF316830 CCDS6765.2, CCDS47999.1, CCDS6765.3, CCDS75870.1 9q31 2013-02-11 2006-03-10 2006-03-10 ENSG00000106701 ENSG00000106701 83856 Fibronectin type III domain containing 13753 protein-coding gene gene with protein product 609829 cystatin and DUF19 domain containing 1, coiled-coil domain containing 10 CSDUFD1, CCDC10, FSD1NL, FSD1CL NA 11267680 Standard NM_207647 XM_005252254 NA Approved uc004bcq.2 Q9BXM9 OTTHUMG00000020426 ENST00000374707.1:c.*5523T>C chr9.hg19:g.108314287T>C NA A2A338|A6NKH7|B7Z5S6|B7Z5W3|Q5T879|Q5T880 hg19 0.02 7.085746 TCTxGTT COVERED NOVEL FSD1L-001 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000053511.1 0 3.610955 KEEP 0 0 0 12 375 TT 0.993634 0.993634 0 + 6 60 219 0 0 13.709813 151 60 5452 192 ENST00000374707.1 0.038217 1 TMEM38B 55151 __UNKNOWN__ __UNKNOWN__ 9 108536564 108536564 __UNKNOWN__ 3'UTR SNP A A T rs75968754 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:108536564A>T ENST00000374692.3 + 0 1196 TMEM38B_ENST00000374688.1_3'UTR NM_018112.1 NP_060582.1 Q9NVV0 TM38B_HUMAN transmembrane protein 38B NA NA integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum membrane (GO:0033017) potassium channel activity (GO:0005267) kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 13 TCATGTGATTATGCTTTACCG 0.313 NA A||| 112 0.0223642 0.0 0.0605 5008 , , NA 14479 0.0675 NA 0.0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC031938 CCDS6768.1 9q31.3 2013-05-23 2004-12-21 2004-12-22 ENSG00000095209 ENSG00000095209 55151 25535 protein-coding gene gene with protein product 611236 chromosome 9 open reading frame 87 C9orf87 NA 17611541, 23316006 Standard NM_018112 NM_018112 NA Approved FLJ10493, bA219P18.1, D4Ertd89e, TRIC-B uc004bcu.2 Q9NVV0 OTTHUMG00000020429 ENST00000374692.3:c.*203A>T chr9.hg19:g.108536564A>T NA Q5JR63|Q5SVN5|Q5SVN6|Q5VTE2|Q6IA97 hg19 CCDS6768.1 0.02 4.610131 ATTxTGC COVERED NOVEL TMEM38B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053517.1 2 5.716807 KEEP 0 0 0 19 587 AA 0.99986 0.999852 0 + 10 60 363 0 0 26.521249 100 60 3673 153 ENST00000374692.3 0.090909 0.999993 ZNF462 58499 __UNKNOWN__ __UNKNOWN__ 9 109734494 109734494 __UNKNOWN__ Silent SNP C C T rs192855171 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:109734494C>T ENST00000441147.2 + 6 3354 c.3354C>T c.(3352-3354)gaC>gaT p.D1118D ZNF462_ENST00000542028.1_Silent_p.D169D|ZNF462_ENST00000457913.1_Silent_p.D2272D|ZNF462_ENST00000277225.5_Silent_p.D2212D Q96JM2 ZN462_HUMAN zinc finger protein 462 2212 NA chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 ATTACCGGGACAAGCATGGTG 0.498 NA C||| 9 0.00179712 0.0 0.0 5008 , , NA 21315 0.0089 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 97 91 93 NA NA 9 NA 109734494 2203 4300 6503 SO:0001819 synonymous_variant AB058706 CCDS35096.1 9q31.3 2008-02-05 ENSG00000148143 ENSG00000148143 58499 Zinc fingers, C2H2-type 21684 protein-coding gene gene with protein product NA Standard NM_021224 NM_021224 NA Approved DKFZP762N2316, KIAA1803, Zfp462 uc004bcz.3 Q96JM2 OTTHUMG00000020438 ENST00000441147.2:c.3354C>T chr9.hg19:g.109734494C>T NA Q5T0T4|Q8N408 hg19 0.02 10.622402 GGAxAAG COVERED 1 4.578754578754579E-4 0 0.0 0 0.0 1 0.0017482517482517483 0 0.0 C 9.040 0.989442 0.18966 . . ENSG00000148143 ENST00000427098 . . . 5.98 3.18 0.36537 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 9.3818 0.38318 0.0:0.7313:0.0:0.2687 . . . . X 114 . . Q + 1 0 ZNF462 108774315 1.000000 0.71417 1.000000 0.80357 0.941000 0.58515 3.803000 0.55560 0.447000 0.26695 -0.143000 0.13931 CAA NOVEL ZNF462-009 NOVEL NAGNAG_splice_site|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000356384.1 3 15.651075 KEEP 0 0 0 52 1853 CC 1 1 0 + 8 60 295 0 0 17.907614 245 60 9366 401 ENST00000441147.2 0.031621 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 109879141 109879141 __UNKNOWN__ IGR SNP G G T rs61748771 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:109879141G>T NA NA RP11-508N12.2 (13872 upstream) : RP11-196I18.4 (598 downstream) NA NA NA GAGGGAGACTGTTGTTCCCCG 0.597 NA G||| 649 0.129593 0.1626 0.1138 5008 , , NA 16030 0.12 NA 0.0964 False NA ,,, NA NA NA 2504 0.1401 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.109879141G>T NA hg19 0.02 3.924547 ACTxTTG COVERED NOVEL 0 1 12.0392 KEEP 0 0 0 40 1424 GG 1 0.999999 0 7 60 251 0 0 16.857952 113 60 4284 203 0.058333 0.999999 ACTL7B 10880 __UNKNOWN__ __UNKNOWN__ 9 111618309 111618309 __UNKNOWN__ 5'UTR SNP T T C rs3750469 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:111618309T>C ENST00000374667.3 - 0 930 NM_006686.3 NP_006677.1 Q9Y614 ACL7B_HUMAN actin-like 7B NA NA actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737) structural constituent of cytoskeleton (GO:0005200) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 CCACCCGGGATTGTGATGTCA 0.592 NA T||| 1728 0.345048 0.3018 0.3804 5008 , , NA 17914 0.3681 NA 0.3738 False NA ,,, NA NA NA 2504 0.3252 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant BC033789 CCDS6771.1 9q31 2009-05-15 ENSG00000148156 ENSG00000148156 10880 162 protein-coding gene gene with protein product 604304 NA 10373328, 12907721 Standard NM_006686 NM_006686 NA Approved Tact1 uc004bdi.3 Q9Y614 OTTHUMG00000020462 ENST00000374667.3:c.-99A>G chr9.hg19:g.111618309T>C NA B2R9Q2|Q5JSV1 hg19 CCDS6771.1 0.02 4.487523 GGAxTGT COVERED NOVEL ACTL7B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053571.1 0 5.410985 KEEP 0 0 0 18 496 TT 0.999859 0.999859 0 - 8 60 290 0 0 19.941121 116 60 4094 158 ENST00000374667.3 0.064516 0.999999 TMEM245 23731 __UNKNOWN__ __UNKNOWN__ 9 111853412 111853412 __UNKNOWN__ Missense_Mutation SNP C C T rs2271877 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:111853412C>T ENST00000374586.3 - 5 971 c.940G>A c.(940-942)Gct>Act p.A314T NM_032012.3 NP_114401.2 Q9H330 TM245_HUMAN transmembrane protein 245 314 NA A -> T (in dbSNP:rs2271877). integral component of membrane (GO:0016021) NA AACGTTGGAGCGGATTCTCCC 0.517 NA C||| 191 0.038139 0.0 0.0259 5008 , , NA 18737 0.1647 NA 0.002 False NA ,,, NA NA NA 2504 0.0051 NA NA NA NA 0 C THR/ALA 4,3898 0,4,1947 80 86 84 940 1.4 0.9 9 dbSNP_100 84 18,8266 0,18,4124 yes missense C9orf5 NM_032012.3 58 0,22,6071 TT,TC,CC 0.2173,0.1025,0.1805 benign 314/880 111853412 22,12164 1951 4142 6093 SO:0001583 missense AF153415 CCDS43858.1 9q31 2012-03-06 2012-03-06 2012-03-06 ENSG00000106771 ENSG00000106771 23731 1363 protein-coding gene gene with protein product chromosome 9 open reading frame 5 C9orf5 NA 10564813 Standard NM_032012 NM_032012 NA Approved CG-2 uc004bdt.4 Q9H330 OTTHUMG00000020469 ENST00000374586.3:c.940G>A chr9.hg19:g.111853412C>T ENSP00000363714:p.Ala314Thr NA B4DSW7|Q5JTQ5|Q5SS43|Q6ZME3|Q8NDJ5|Q96CG6 hg19 CCDS43858.1 0.02 4.223213 GAGxGGA COVERED 94 0.04304029304029304 0 0.0 6 0.016574585635359115 86 0.15034965034965034 2 0.002638522427440633 C 0.504 -0.869490 0.02570 0.001025 0.002173 ENSG00000106771 ENST00000374587;ENST00000374586;ENST00000223608 T 0.22743 1.94 5.68 1.36 0.22044 . 0.748479 0.12697 N 0.446701 T 0.00039 0.0001 N 0.08118 0 0.80722 P 0.0 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.40515 -0.9559 9 0.07644 T 0.81 -5.0741 5.9629 0.19308 0.0706:0.1018:0.5097:0.3179 rs2271877;rs17200674;rs52818205;rs2271877 314;314 Q9H330-2;Q9H330 .;CI005_HUMAN T 314 ENSP00000363714:A314T ENSP00000223608:A314T A - 1 0 C9orf5 110893233 0.586000 0.26782 0.900000 0.35374 0.048000 0.14542 0.887000 0.28254 0.355000 0.24131 -0.941000 0.02677 GCT NOVEL TMEM245-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053587.2 0 4.514401 KEEP 0 0 0 15 510 CC 0.99649 0.996489 0 - 5 60 184 0 0 11.762959 115 60 3706 148 ENST00000374586.3 0.041667 0.999999 PTPN3 5774 __UNKNOWN__ __UNKNOWN__ 9 112219474 112219474 __UNKNOWN__ Missense_Mutation SNP C C G rs3793524 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:112219474C>G ENST00000374541.2 - 4 372 c.268G>C c.(268-270)Gcc>Ccc p.A90P PTPN3_ENST00000262539.3_Missense_Mutation_p.S7T NM_001145368.1|NM_002829.3 NP_001138840.1|NP_002820.3 P26045 PTN3_HUMAN protein tyrosine phosphatase, non-receptor type 3 90 FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}. NA A -> P (in dbSNP:rs3793524). {ECO:0000269|PubMed:1648725}. negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649) cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856) ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080) breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 TTCCTGATGGCTTTGCTTGCT 0.408 NA G||| 2045 0.408347 0.5318 0.2939 5008 , , NA 23696 0.3442 NA 0.3439 False NA ,,, NA NA NA 2504 0.455 NA NA NA NA 0 G PRO/ALA,PRO/ALA 2124,2282 598.3+/-389.1 495,1134,574 185 160 169 268,268 5.6 1 9 dbSNP_107 169 2915,5685 670.0+/-402.7 485,1945,1870 yes missense,missense PTPN3 NM_001145368.1,NM_002829.3 27,27 980,3079,2444 GG,GC,CC 33.8953,48.207,38.7437 benign,benign 90/869,90/914 112219474 5039,7967 2203 4300 6503 SO:0001583 missense CCDS6776.1, CCDS48000.1, CCDS48001.1 9q31 2011-06-09 ENSG00000070159 ENSG00000070159 5774 Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor 9655 protein-coding gene gene with protein product 176877 NA 1648725 Standard NM_002829 NA Approved PTPH1 uc004bed.2 P26045 OTTHUMG00000020475 ENST00000374541.2:c.268G>C chr9.hg19:g.112219474C>G ENSP00000363667:p.Ala90Pro NA A0AUW9|E7EN99|E9PGU7 hg19 CCDS6776.1 0.02 10.481268 TGGxTTT COVERED 829|829 0.37957875457875456|0.37957875457875456 244|244 0.4959349593495935|0.4959349593495935 118|118 0.3259668508287293|0.3259668508287293 202|202 0.3531468531468531|0.3531468531468531 265|265 0.3496042216358839|0.3496042216358839 G|G 24.4|24.4 4.525557|4.525557 0.85600|0.85600 0.48207|0.48207 0.338953|0.338953 ENSG00000070159|ENSG00000070159 ENST00000394831;ENST00000374541|ENST00000262539 T|T 0.76709|0.67865 -1.04|-0.29 5.56|5.56 5.56|5.56 0.83823|0.83823 FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);FERM conserved site (1);|. 0.052669|. 0.85682|. N|. 0.000000|. T|T 0.00012|0.00012 0.0000|0.0000 N|N 0.00073|0.00073 -2.26|-2.26 0.09310|0.09310 P|P 1.0|1.0 B;B;B|. 0.02656|. 0.0;0.0;0.0|. B;B;B|. 0.01281|. 0.0;0.0;0.0|. T|T 0.33189|0.33189 -0.9878|-0.9878 9|6 0.02654|0.16896 T|T 1|0.51 .|. 16.3119|16.3119 0.82874|0.82874 0.0:0.1326:0.8674:0.0|0.0:0.1326:0.8674:0.0 rs3793524;rs52793477;rs59962731;rs3793524|rs3793524;rs52793477;rs59962731;rs3793524 90;90;90|. B7Z9V1;Q45VJ3;P26045|. .;.;PTN3_HUMAN|. P|T 90|7 ENSP00000363667:A90P|ENSP00000262539:S7T ENSP00000363667:A90P|ENSP00000262539:S7T A|S -|- 1|2 0|0 PTPN3|PTPN3 111259295|111259295 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.957000|0.957000 0.61999|0.61999 6.534000|6.534000 0.73833|0.73833 1.370000|1.370000 0.46153|0.46153 -0.371000|-0.371000 0.07208|0.07208 GCC|AGC NOVEL PTPN3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053598.4 0 8.865781 KEEP 0 1 36 42 1532 CC 1 1 0 - 8 60 296 0 0 17.803567 260 60 9838 390 ENST00000374541.2 0.029851 1 PALM2-AKAP2 445815 __UNKNOWN__ __UNKNOWN__ 9 112687381 112687381 __UNKNOWN__ Intron SNP G G T rs41278409 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:112687381G>T ENST00000374530.3 + 5 574 PALM2_ENST00000314527.4_Intron|PALM2-AKAP2_ENST00000302798.7_Intron|AKAP2_ENST00000510514.5_Intron|PALM2_ENST00000374531.2_Intron|PALM2_ENST00000448454.2_Intron|PALM2_ENST00000483909.1_Intron|AKAP2_ENST00000555236.1_Intron NM_007203.4|NM_147150.2 NP_009134.1|NP_671492.1 PALM2-AKAP2 readthrough NA NA breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 44 TCTCTGCCCCGACTGTAGATG 0.458 NA G||| 493 0.0984425 0.0038 0.1124 5008 , , NA 19617 0.1954 NA 0.1203 False NA ,,, NA NA NA 2504 0.0941 NA NA NA NA 0 G ,,, 130,4276 94.4+/-133.1 3,124,2076 173 152 159 ,,, -9.8 0 9 dbSNP_127 159 1077,7523 226.9+/-262.5 71,935,3294 no intron,intron,intron,intron PALM2,PALM2-AKAP2 NM_001037293.2,NM_007203.4,NM_053016.5,NM_147150.2 ,,, 74,1059,5370 TT,TG,GG 12.5233,2.9505,9.2803 ,,, ,,, 112687381 1207,11799 2203 4300 6503 SO:0001627 intron_variant AB023137 CCDS35100.1, CCDS35101.1 9q31.3 2010-02-17 ENSG00000157654 ENSG00000157654 445815 33529 other readthrough NA 11478809 Standard NM_147150 NA Approved uc004bej.4 OTTHUMG00000156812 ENST00000374530.3:c.394+19G>T chr9.hg19:g.112687381G>T NA hg19 CCDS35100.1 0.02 11.115803 CCCxACT COVERED NOVEL PALM2-AKAP2-001 KNOWN basic|appris_candidate_longest|readthrough_transcript|CCDS protein_coding NA protein_coding OTTHUMT00000053603.1 1 6.920695 KEEP 0 0 0 23 756 GG 0.999892 0.999892 0 + 13 60 449 1 0 28.600079 252 60 8960 336 ENST00000374530.3 0.049057 1 PALM2-AKAP2 445815 __UNKNOWN__ __UNKNOWN__ 9 112787416 112787416 __UNKNOWN__ Intron SNP C C T rs190421581 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:112787416C>T ENST00000374530.3 + 7 762 PALM2-AKAP2_ENST00000302798.7_Intron|AKAP2_ENST00000510514.5_Intron|AKAP2_ENST00000555236.1_Intron NM_007203.4|NM_147150.2 NP_009134.1|NP_671492.1 PALM2-AKAP2 readthrough NA NA breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 44 TGTTTGTTTACAATACCAACA 0.418 NA C||| 10 0.00199681 0.0 0.0 5008 , , NA 19896 0.0079 NA 0.0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB023137 CCDS35100.1, CCDS35101.1 9q31.3 2010-02-17 ENSG00000157654 ENSG00000157654 445815 33529 other readthrough NA 11478809 Standard NM_147150 NA Approved uc004bej.4 OTTHUMG00000156812 ENST00000374530.3:c.582+9097C>T chr9.hg19:g.112787416C>T NA hg19 CCDS35100.1 0.02 1.912439 TTAxAAT COVERED NOVEL PALM2-AKAP2-001 KNOWN basic|appris_candidate_longest|readthrough_transcript|CCDS protein_coding NA protein_coding OTTHUMT00000053603.1 0 6.019655 KEEP 0 0 0 20 718 CC 0.999863 0.99873 0 + 4 60 148 0 0 9.881449 73 60 2753 124 ENST00000374530.3 0.051948 0.998867 PALM2-AKAP2 445815 __UNKNOWN__ __UNKNOWN__ 9 112900785 112900785 __UNKNOWN__ Silent SNP A A G rs3739456 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:112900785A>G ENST00000374530.3 + 8 3141 c.2961A>G c.(2959-2961)tcA>tcG p.S987S AKAP2_ENST00000374525.1_Silent_p.S845S|AKAP2_ENST00000482335.1_3'UTR|PALM2-AKAP2_ENST00000302798.7_Silent_p.S987S|AKAP2_ENST00000259318.7_Silent_p.S756S|AKAP2_ENST00000510514.5_Silent_p.S987S|AKAP2_ENST00000434623.2_Silent_p.S845S|AKAP2_ENST00000555236.1_Silent_p.S987S NM_007203.4|NM_147150.2 NP_009134.1|NP_671492.1 PALM2-AKAP2 readthrough NA NA breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 44 ATGCCCCATCACTGCCCTCCA 0.522 NA G||| 1635 0.326478 0.1498 0.4107 5008 , , NA 20700 0.6587 NA 0.2575 False NA ,,, NA NA NA 2504 0.2342 NA NA NA NA 0 G ,,,, 738,3668 751.0+/-412.2 68,602,1533 71 66 68 2535,2268,2535,2961,2961 -6.5 0.4 9 dbSNP_107 68 2117,6483 707.9+/-405.6 258,1601,2441 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous AKAP2,PALM2-AKAP2 NM_001004065.4,NM_001136562.2,NM_001198656.1,NM_007203.4,NM_147150.2 ,,,, 326,2203,3974 GG,GA,AA 24.6163,16.7499,21.9514 ,,,, 845/949,756/860,845/962,987/1104,987/1091 112900785 2855,10151 2203 4300 6503 SO:0001819 synonymous_variant AB023137 CCDS35100.1, CCDS35101.1 9q31.3 2010-02-17 ENSG00000157654 ENSG00000157654 445815 33529 other readthrough NA 11478809 Standard NM_147150 NA Approved uc004bej.4 OTTHUMG00000156812 ENST00000374530.3:c.2961A>G chr9.hg19:g.112900785A>G NA hg19 CCDS35100.1 0.02 1.982717 ATCxCTG COVERED NOVEL PALM2-AKAP2-001 KNOWN basic|appris_candidate_longest|readthrough_transcript|CCDS protein_coding NA protein_coding OTTHUMT00000053603.1 1 6.616433 KEEP 0 0 0 22 626 AA 0.999879 0.996112 0 + 5 60 177 0 0 12.331404 63 60 2191 100 ENST00000374530.3 0.073529 0.996233 C9orf152 401546 __UNKNOWN__ __UNKNOWN__ 9 112963497 112963497 __UNKNOWN__ Missense_Mutation SNP G G A rs117858678 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:112963497G>A ENST00000400613.4 - 2 1060 c.451C>T c.(451-453)Ctc>Ttc p.L151F C9orf152_ENST00000473442.1_Intron NM_001012993.2 NP_001013011.2 Q5JTZ5 CI152_HUMAN chromosome 9 open reading frame 152 151 NA p.L130F(1) NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1) 6 TCAGGAGGGAGCCTTTGATCA 0.537 NA G||| 18 0.00359425 0.0 0.0 5008 , , NA 20290 0.0179 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 1 Substitution - Missense(1) stomach(1) 215 195 202 NA NA 9 NA 112963497 2203 4300 6503 SO:0001583 missense BX648620 CCDS35102.2 9q31.3 2012-04-03 ENSG00000188959 ENSG00000188959 401546 31455 protein-coding gene gene with protein product NA Standard NM_001012993 NM_001012993 NA Approved bA470J20.2 uc011lwk.2 Q5JTZ5 OTTHUMG00000020478 ENST00000400613.4:c.451C>T chr9.hg19:g.112963497G>A ENSP00000383456:p.Leu151Phe NA A8MWT6 hg19 CCDS35102.2 0.02 17.121025 GGAxCCT COVERED 7 0.003205128205128205 0 0.0 0 0.0 7 0.012237762237762238 0 0.0 G 13.52 2.262391 0.39995 . . ENSG00000188959 ENST00000400613 . . . 4.53 3.62 0.41486 . 0.543857 0.15347 N 0.267173 T 0.20901 0.0503 N 0.19112 0.55 0.26457 N 0.975513 B 0.32800 0.385 B 0.33295 0.161 T 0.12528 -1.0544 9 0.46703 T 0.11 -3.5724 10.1325 0.42687 0.1006:0.0:0.8994:0.0 . 151 Q5JTZ5 CI152_HUMAN F 151 . ENSP00000383456:L151F L - 1 0 C9orf152 112003318 0.879000 0.30193 0.427000 0.26684 0.194000 0.23727 1.822000 0.39052 1.484000 0.48361 0.655000 0.94253 CTC NOVEL C9orf152-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053602.2 1 12.038817 KEEP 0 0 0 40 1428 GG 1 1 0 - 26 60 901 0 0 60.183381 394 60 14702 560 ENST00000400613.4 0.061905 1 C9orf152 401546 __UNKNOWN__ __UNKNOWN__ 9 112969567 112969567 __UNKNOWN__ Intron SNP G G C rs10980254 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:112969567G>C ENST00000400613.4 - 1 803 C9orf152_ENST00000473442.1_Intron NM_001012993.2 NP_001013011.2 Q5JTZ5 CI152_HUMAN chromosome 9 open reading frame 152 NA NA NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1) 6 TCCCCACTGGGAGGGAGGGCT 0.657 NA G||| 1028 0.205272 0.0635 0.2522 5008 , , NA 18169 0.5228 NA 0.0358 False NA ,,, NA NA NA 2504 0.2106 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BX648620 CCDS35102.2 9q31.3 2012-04-03 ENSG00000188959 ENSG00000188959 401546 31455 protein-coding gene gene with protein product NA Standard NM_001012993 NM_001012993 NA Approved bA470J20.2 uc011lwk.2 Q5JTZ5 OTTHUMG00000020478 ENST00000400613.4:c.193+99C>G chr9.hg19:g.112969567G>C NA A8MWT6 hg19 CCDS35102.2 0.02 4.534633 TGGxAGG COVERED NOVEL C9orf152-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053602.2 2 3.009857 KEEP 0 0 0 10 360 GG 0.992708 0.992707 0 - 10 60 374 0 0 26.86348 120 60 4324 156 ENST00000400613.4 0.076923 1 SVEP1 79987 __UNKNOWN__ __UNKNOWN__ 9 113132221 113132221 __UNKNOWN__ Missense_Mutation SNP G G A rs17204533 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:113132221G>A ENST00000374469.1 - 47 10870 c.10607C>T c.(10606-10608)aCg>aTg p.T3536M SVEP1_ENST00000401783.2_Missense_Mutation_p.T3559M|SVEP1_ENST00000297826.5_Missense_Mutation_p.T1485M Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 3559 EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}. NA cell adhesion (GO:0007155) cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020) calcium ion binding (GO:0005509)|chromatin binding (GO:0003682) NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 GTTATGTCCCGTCCAAGAAGA 0.383 NA G||| 672 0.134185 0.0129 0.1023 5008 , , NA 19726 0.2768 NA 0.168 False NA ,,, NA NA NA 2504 0.1391 NA NA NA NA 0 G MET/THR 118,3602 3,112,1745 91 83 86 10676 4.9 1 9 dbSNP_123 86 1303,6891 101,1101,2895 yes missense SVEP1 NM_153366.3 81 104,1213,4640 AA,AG,GG 15.9019,3.172,11.9271 probably-damaging 3559/3572 113132221 1421,10493 1860 4097 5957 SO:0001583 missense AK027870 9q31-q32 2008-02-05 2005-03-15 2005-03-17 ENSG00000165124 ENSG00000165124 79987 15985 protein-coding gene gene with protein product 611691 chromosome 9 open reading frame 13 C9orf13 NA Standard NM_153366 NA Approved bA427L11.3, POLYDOM, FLJ13529 uc010mtz.3 Q4LDE5 OTTHUMG00000020482 ENST00000374469.1:c.10607C>T chr9.hg19:g.113132221G>A ENSP00000363593:p.Thr3536Met NA Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9 hg19 0.02 11.098483 CCCxTCC COVERED 373 0.1707875457875458 9 0.018292682926829267 43 0.11878453038674033 184 0.32167832167832167 137 0.18073878627968337 G 16.25 3.071322 0.55646 0.03172 0.159019 ENSG00000165124 ENST00000401783;ENST00000374469;ENST00000297826 T;T;T 0.25085 1.82;1.82;1.82 5.81 4.91 0.64330 Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1); 0.374359 0.30547 N 0.009394 T 0.00012 0.0000 M 0.83312 2.635 0.09310 P 0.999999999849264 D 0.65815 0.995 P 0.52514 0.701 T 0.33420 -0.9869 9 0.30854 T 0.27 . 14.6555 0.68831 0.0705:0.0:0.9295:0.0 rs17204533;rs52809365;rs17204533 3559 Q4LDE5 SVEP1_HUMAN M 3559;3536;1485 ENSP00000384917:T3559M;ENSP00000363593:T3536M;ENSP00000297826:T1485M ENSP00000297826:T1485M T - 2 0 SVEP1 112172042 0.995000 0.38212 0.994000 0.49952 0.583000 0.36354 1.871000 0.39539 1.455000 0.47813 0.650000 0.86243 ACG NOVEL SVEP1-003 KNOWN basic protein_coding NA protein_coding OTTHUMT00000053622.1 2 8.059722 KEEP 0 1 32 38 1271 GG 1 1 0 - 9 60 343 0 0 21.510838 258 60 8888 379 ENST00000374469.1 0.033708 1 SVEP1 79987 __UNKNOWN__ __UNKNOWN__ 9 113192655 113192655 __UNKNOWN__ Missense_Mutation SNP T T G rs2986671 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:113192655T>G ENST00000374469.1 - 33 5623 c.5360A>C c.(5359-5361)gAa>gCa p.E1787A SVEP1_ENST00000401783.2_Missense_Mutation_p.E1810A Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 1810 Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}. NA cell adhesion (GO:0007155) cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020) calcium ion binding (GO:0005509)|chromatin binding (GO:0003682) p.E1813A(1) NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 AAATGTGACTTCGGCACCTAC 0.408 NA T||| 930 0.185703 0.0129 0.2406 5008 , , NA 17798 0.4087 NA 0.1829 False NA ,,, NA NA NA 2504 0.1534 NA NA NA NA 1 Substitution - Missense(1) stomach(1) T ALA/GLU 137,3617 3,131,1743 68 61 63 5429 2.8 0 9 dbSNP_101 63 1400,6836 119,1162,2837 yes missense SVEP1 NM_153366.3 107 122,1293,4580 GG,GT,TT 16.9985,3.6494,12.819 benign 1810/3572 113192655 1537,10453 1877 4118 5995 SO:0001583 missense AK027870 9q31-q32 2008-02-05 2005-03-15 2005-03-17 ENSG00000165124 ENSG00000165124 79987 15985 protein-coding gene gene with protein product 611691 chromosome 9 open reading frame 13 C9orf13 NA Standard NM_153366 NA Approved bA427L11.3, POLYDOM, FLJ13529 uc010mtz.3 Q4LDE5 OTTHUMG00000020482 ENST00000374469.1:c.5360A>C chr9.hg19:g.113192655T>G ENSP00000363593:p.Glu1787Ala NA Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9 hg19 0.02 7.280661 ACTxCGG COVERED 495 0.22664835164835165 10 0.02032520325203252 84 0.23204419889502761 249 0.4353146853146853 152 0.20052770448548812 T 6.654 0.489110 0.12641 0.036494 0.169985 ENSG00000165124 ENST00000401783;ENST00000374469 T;T 0.64991 -0.13;-0.13 5.27 2.82 0.32997 Complement control module (2);Sushi/SCR/CCP (3); 0.403453 0.29021 N 0.013385 T 0.00012 0.0000 L 0.37897 1.145 0.21915 P 0.99947619 B 0.11235 0.004 B 0.12156 0.007 T 0.41538 -0.9503 9 0.10636 T 0.68 . 8.6135 0.33817 0.1283:0.0:0.1345:0.7371 rs2986671;rs3739449;rs11567627;rs17807596;rs2986671 1810 Q4LDE5 SVEP1_HUMAN A 1810;1787 ENSP00000384917:E1810A;ENSP00000363593:E1787A ENSP00000363593:E1787A E - 2 0 SVEP1 112232476 0.493000 0.26035 0.022000 0.16811 0.798000 0.45092 2.345000 0.44018 0.397000 0.25310 0.533000 0.62120 GAA NOVEL SVEP1-003 KNOWN basic protein_coding NA protein_coding OTTHUMT00000053622.1 2 3.545828 KEEP 0 1 38 25 772 TT 0.999957 0.999957 0 - 15 60 569 0 0 42.071817 154 60 5514 231 ENST00000374469.1 0.088757 1 SVEP1 79987 __UNKNOWN__ __UNKNOWN__ 9 113192802 113192802 __UNKNOWN__ Intron SNP A A T rs147946647 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:113192802A>T ENST00000374469.1 - 33 5548 SVEP1_ENST00000401783.2_Intron Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 NA NA cell adhesion (GO:0007155) cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020) calcium ion binding (GO:0005509)|chromatin binding (GO:0003682) NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 CAGCAAAAGAATTCCACTATA 0.398 NA A||| 10 0.00199681 0.0 0.0 5008 , , NA 19353 0.0099 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK027870 9q31-q32 2008-02-05 2005-03-15 2005-03-17 ENSG00000165124 ENSG00000165124 79987 15985 protein-coding gene gene with protein product 611691 chromosome 9 open reading frame 13 C9orf13 NA Standard NM_153366 NA Approved bA427L11.3, POLYDOM, FLJ13529 uc010mtz.3 Q4LDE5 OTTHUMG00000020482 ENST00000374469.1:c.5285-72T>A chr9.hg19:g.113192802A>T NA Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9 hg19 0.02 3.962228 AGAxTTC COVERED NOVEL SVEP1-003 KNOWN basic protein_coding NA protein_coding OTTHUMT00000053622.1 0 6.619019 KEEP 0 0 0 22 664 AA 0.999879 0.999878 0 - 6 60 215 0 0 13.891403 120 60 4396 168 ENST00000374469.1 0.047619 1 SVEP1 79987 __UNKNOWN__ __UNKNOWN__ 9 113220820 113220820 __UNKNOWN__ Silent SNP C C T rs10980398 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:113220820C>T ENST00000374469.1 - 20 3701 c.3438G>A c.(3436-3438)gcG>gcA p.A1146A SVEP1_ENST00000401783.2_Silent_p.A1169A|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Silent_p.A1169A Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 1169 NA cell adhesion (GO:0007155) cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020) calcium ion binding (GO:0005509)|chromatin binding (GO:0003682) p.A1169A(1) NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 TTTCCTCTGCCGCTGAGAAAG 0.398 NA C||| 923 0.184305 0.0129 0.2406 5008 , , NA 17487 0.4067 NA 0.1819 False NA ,,, NA NA NA 2504 0.1493 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) C 137,3557 3,131,1713 42 42 42 3507 -4 1 9 dbSNP_120 42 1401,6795 118,1165,2815 no coding-synonymous SVEP1 NM_153366.3 121,1296,4528 TT,TC,CC 17.0937,3.7087,12.9352 1169/3572 113220820 1538,10352 1847 4098 5945 SO:0001819 synonymous_variant AK027870 9q31-q32 2008-02-05 2005-03-15 2005-03-17 ENSG00000165124 ENSG00000165124 79987 15985 protein-coding gene gene with protein product 611691 chromosome 9 open reading frame 13 C9orf13 NA Standard NM_153366 NA Approved bA427L11.3, POLYDOM, FLJ13529 uc010mtz.3 Q4LDE5 OTTHUMG00000020482 ENST00000374469.1:c.3438G>A chr9.hg19:g.113220820C>T NA Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9 hg19 0.02 9.397804 TGCxGCT COVERED NOVEL SVEP1-003 KNOWN basic protein_coding NA protein_coding OTTHUMT00000053622.1 1 10.232455 KEEP 0 0 0 34 1149 CC 0.999998 0.999998 0 - 21 60 798 0 0 59.143032 213 60 7282 320 ENST00000374469.1 0.089744 1 SVEP1 79987 __UNKNOWN__ __UNKNOWN__ 9 113228098 113228098 __UNKNOWN__ Intron SNP G G T rs10980401 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:113228098G>T ENST00000374469.1 - 18 3517 SVEP1_ENST00000401783.2_Intron|SVEP1_ENST00000467821.1_Intron|SVEP1_ENST00000302728.8_Intron Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 NA NA cell adhesion (GO:0007155) cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020) calcium ion binding (GO:0005509)|chromatin binding (GO:0003682) NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 TTCATGCATAGAACCTAGTAG 0.363 NA G||| 938 0.1873 0.0136 0.2478 5008 , , NA 20445 0.4087 NA 0.1829 False NA ,,, NA NA NA 2504 0.1554 NA NA NA NA 0 G 135,3581 3,129,1726 32 28 29 0.8 0 9 dbSNP_120 29 1392,6780 120,1152,2814 no intron SVEP1 NM_153366.3 123,1281,4540 TT,TG,GG 17.0338,3.6329,12.8449 113228098 1527,10361 1858 4086 5944 SO:0001627 intron_variant AK027870 9q31-q32 2008-02-05 2005-03-15 2005-03-17 ENSG00000165124 ENSG00000165124 79987 15985 protein-coding gene gene with protein product 611691 chromosome 9 open reading frame 13 C9orf13 NA Standard NM_153366 NA Approved bA427L11.3, POLYDOM, FLJ13529 uc010mtz.3 Q4LDE5 OTTHUMG00000020482 ENST00000374469.1:c.3253+46C>A chr9.hg19:g.113228098G>T NA Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9 hg19 0.02 10.594804 ATAxAAC COVERED NOVEL SVEP1-003 KNOWN basic protein_coding NA protein_coding OTTHUMT00000053622.1 1 5.417581 KEEP 0 0 0 18 639 GG 0.999859 0.999859 0 - 10 60 342 0 0 20.802016 246 60 9338 305 ENST00000374469.1 0.039062 1 SVEP1 79987 __UNKNOWN__ __UNKNOWN__ 9 113233720 113233720 __UNKNOWN__ Silent SNP G G A rs10980402 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:113233720G>A ENST00000374469.1 - 16 3116 c.2853C>T c.(2851-2853)gcC>gcT p.A951A SVEP1_ENST00000401783.2_Silent_p.A974A|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Silent_p.A974A Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 974 NA cell adhesion (GO:0007155) cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020) calcium ion binding (GO:0005509)|chromatin binding (GO:0003682) NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 AATTGCTGTCGGCTATAAGTA 0.433 NA G||| 959 0.191494 0.0151 0.2579 5008 , , NA 16973 0.4206 NA 0.1819 False NA ,,, NA NA NA 2504 0.1564 NA NA NA NA 0 G 144,3610 3,138,1736 114 105 108 2922 -9.3 0 9 dbSNP_120 108 1409,6805 120,1169,2818 no coding-synonymous SVEP1 NM_153366.3 123,1307,4554 AA,AG,GG 17.1536,3.8359,12.9763 974/3572 113233720 1553,10415 1877 4107 5984 SO:0001819 synonymous_variant AK027870 9q31-q32 2008-02-05 2005-03-15 2005-03-17 ENSG00000165124 ENSG00000165124 79987 15985 protein-coding gene gene with protein product 611691 chromosome 9 open reading frame 13 C9orf13 NA Standard NM_153366 NA Approved bA427L11.3, POLYDOM, FLJ13529 uc010mtz.3 Q4LDE5 OTTHUMG00000020482 ENST00000374469.1:c.2853C>T chr9.hg19:g.113233720G>A NA Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9 hg19 0.02 20.447637 GTCxGCT COVERED NOVEL SVEP1-003 KNOWN basic protein_coding NA protein_coding OTTHUMT00000053622.1 5 14.72065 KEEP 0 0 0 49 1642 GG 1 1 0 - 32 60 1180 0 0 81.786129 463 60 15959 617 ENST00000374469.1 0.064646 1 SVEP1 79987 __UNKNOWN__ __UNKNOWN__ 9 113275227 113275227 __UNKNOWN__ Missense_Mutation SNP C C T rs10980419 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:113275227C>T ENST00000374469.1 - 5 1476 c.1213G>A c.(1213-1215)Ggt>Agt p.G405S SVEP1_ENST00000401783.2_Missense_Mutation_p.G428S|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.G428S|SVEP1_ENST00000374461.1_Missense_Mutation_p.G405S Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 428 Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}. NA cell adhesion (GO:0007155) cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020) calcium ion binding (GO:0005509)|chromatin binding (GO:0003682) NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 CTCTCTGAACCGGACCACAAA 0.443 NA C||| 207 0.0413339 0.0023 0.0086 5008 , , NA 17993 0.1071 NA 0.0169 False NA ,,, NA NA NA 2504 0.0746 NA NA NA NA 0 C SER/GLY 22,3858 0,22,1918 99 94 96 1282 2.2 0.4 9 dbSNP_120 96 224,8054 3,218,3918 yes missense SVEP1 NM_153366.3 56 3,240,5836 TT,TC,CC 2.706,0.567,2.0234 benign 428/3572 113275227 246,11912 1940 4139 6079 SO:0001583 missense AK027870 9q31-q32 2008-02-05 2005-03-15 2005-03-17 ENSG00000165124 ENSG00000165124 79987 15985 protein-coding gene gene with protein product 611691 chromosome 9 open reading frame 13 C9orf13 NA Standard NM_153366 NA Approved bA427L11.3, POLYDOM, FLJ13529 uc010mtz.3 Q4LDE5 OTTHUMG00000020482 ENST00000374469.1:c.1213G>A chr9.hg19:g.113275227C>T ENSP00000363593:p.Gly405Ser NA Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9 hg19 0.02 13.36546 AACxGGA COVERED 83 0.038003663003663 1 0.0020325203252032522 2 0.0055248618784530384 65 0.11363636363636363 15 0.01978891820580475 C 21.0 4.077805 0.76528 0.00567 0.02706 ENSG00000165124 ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461 T;T;T;T 0.25579 1.79;1.79;1.79;1.79 5.99 2.19 0.27852 Complement control module (2);Growth factor, receptor (1);Sushi/SCR/CCP (3); 0.097518 0.64402 N 0.000001 T 0.00784 0.0026 M 0.81682 2.555 0.41592 D 0.988807 P;P;D;B 0.55172 0.856;0.721;0.97;0.449 B;B;P;B 0.49922 0.333;0.234;0.626;0.15 T 0.00091 -1.2084 10 0.42905 T 0.14 . 10.2762 0.43512 0.0:0.7396:0.0:0.2604 rs10980419;rs52828370;rs10980419 428;428;428;428 E9PBN8;Q4LDE5;B3KV07;Q4LDE5-2 .;SVEP1_HUMAN;.;. S 428;405;428;405 ENSP00000384917:G428S;ENSP00000363593:G405S;ENSP00000304118:G428S;ENSP00000363585:G405S ENSP00000304118:G428S G - 1 0 SVEP1 112315048 0.993000 0.37304 0.429000 0.26710 0.916000 0.54674 3.077000 0.50089 0.152000 0.19188 -0.136000 0.14681 GGT NOVEL SVEP1-003 KNOWN basic protein_coding NA protein_coding OTTHUMT00000053622.1 1 11.737289 KEEP 0 0 0 39 1323 CC 1 1 0 - 9 60 345 0 0 21.055025 306 60 10524 420 ENST00000374469.1 0.028571 1 MUSK 4593 __UNKNOWN__ __UNKNOWN__ 9 113459768 113459768 __UNKNOWN__ Intron SNP C C G rs41279053 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:113459768C>G ENST00000189978.5 + 5 762 MUSK_ENST00000374440.3_Intron|MUSK_ENST00000374448.4_Intron|MUSK_ENST00000374439.1_Intron|MUSK_ENST00000416899.2_Intron O15146 MUSK_HUMAN muscle, skeletal, receptor tyrosine kinase NA NA cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235) ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714) breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 49 CATTTCTTCCCCTGACTGTGT 0.537 NA C||| 346 0.0690895 0.0749 0.0476 5008 , , NA 16519 0.0873 NA 0.0547 False NA ,,, NA NA NA 2504 0.0726 NA NA NA NA 0 C ,, 211,3695 5,201,1747 62 63 63 ,, 0.7 0 9 dbSNP_127 63 500,7794 11,478,3658 no intron,intron,intron MUSK NM_001166280.1,NM_001166281.1,NM_005592.3 ,, 16,679,5405 GG,GC,CC 6.0285,5.4019,5.8279 ,, ,, 113459768 711,11489 1953 4147 6100 SO:0001627 intron_variant AF006464 CCDS48005.1, CCDS75874.1 9q31.3-q32 2013-01-29 ENSG00000030304 ENSG00000030304 4593 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 7525 protein-coding gene gene with protein product 601296 NA 7546737 Standard NM_005592 NA Approved uc022blv.1 O15146 OTTHUMG00000020485 ENST00000189978.5:c.628+22C>G chr9.hg19:g.113459768C>G NA Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8 hg19 0.02 6.842718 TCCxCTG COVERED NOVEL MUSK-001 PUTATIVE non_canonical_TEC|basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000053627.2 0 7.22214 KEEP 0 0 0 24 822 CC 0.999909 0.999909 0 + 11 60 400 0 0 27.795508 151 60 5469 203 ENST00000189978.5 0.067901 1 MUSK 4593 __UNKNOWN__ __UNKNOWN__ 9 113490925 113490925 __UNKNOWN__ Intron SNP G G A rs12551974 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:113490925G>A ENST00000189978.5 + 6 762 MUSK_ENST00000374448.4_Intron|MUSK_ENST00000416899.2_Intron O15146 MUSK_HUMAN muscle, skeletal, receptor tyrosine kinase NA NA cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235) ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714) breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 49 TTTTGTTTGCGTGTTTATTGT 0.323 NA G||| 1244 0.248403 0.0348 0.2882 5008 , , NA 18559 0.499 NA 0.2157 False NA ,,, NA NA NA 2504 0.2843 NA NA NA NA 0 251 187 207 NA NA 9 NA 113490925 1568 3580 5148 SO:0001627 intron_variant AF006464 CCDS48005.1, CCDS75874.1 9q31.3-q32 2013-01-29 ENSG00000030304 ENSG00000030304 4593 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 7525 protein-coding gene gene with protein product 601296 NA 7546737 Standard NM_005592 NA Approved uc022blv.1 O15146 OTTHUMG00000020485 ENST00000189978.5:c.629-5606G>A chr9.hg19:g.113490925G>A NA Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8 hg19 0.02 8.865196 TGCxTGT COVERED NOVEL MUSK-001 PUTATIVE non_canonical_TEC|basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000053627.2 2 16.526466 KEEP 0 0 0 55 1863 GG 1 1 0 + 9 60 344 0 0 22.469614 206 60 7337 344 ENST00000189978.5 0.04186 1 LPAR1 1902 __UNKNOWN__ __UNKNOWN__ 9 113800790 113800790 __UNKNOWN__ Intron SNP G G A rs28700160 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:113800790G>A ENST00000538760.1 - 1 50 Q92633 LPAR1_HUMAN lysophosphatidic acid receptor 1 NA NA activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|bleb assembly (GO:0032060)|cellular response to oxygen levels (GO:0071453)|G-protein coupled receptor signaling pathway (GO:0007186)|myelination (GO:0042552)|negative regulation of neuron projection development (GO:0010977)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell chemotaxis (GO:0071673) cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543) breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1) 21 GGGGCGCAGAGGGAGGGCCAG 0.677 NA g||| 1472 0.29393 0.2194 0.2867 5008 , , NA 6827 0.5496 NA 0.2515 False NA ,,, NA NA NA 2504 0.18 NA NA NA NSCLC(115;661 2323 9836 34256) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U80811 CCDS6777.1 9q 2012-08-08 2008-04-11 2008-04-11 ENSG00000198121 ENSG00000198121 1902 GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid 3166 protein-coding gene gene with protein product 602282 endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 2 EDG2 NA 8922387, 9070858 Standard NM_057159 NM_001401 NA Approved edg-2, rec.1.3, vzg-1, Gpcr26, Mrec1.3, LPA1, GPR26 uc004bfc.3 Q92633 OTTHUMG00000020486 ENST00000538760.1:c.48+141C>T chr9.hg19:g.113800790G>A NA B4DK36|O00656|O00722|P78351 hg19 0.02 6.153665 AGAxGGA COVERED NOVEL LPAR1-201 KNOWN basic protein_coding NA protein_coding 0 12.33945 KEEP 0 0 0 41 1425 GG 1 1 0 - 11 60 396 0 0 26.482867 184 60 6530 274 ENST00000538760.1 0.05641 1 PTGR1 22949 __UNKNOWN__ __UNKNOWN__ 9 114339639 114339639 __UNKNOWN__ Intron SNP G G A rs4978444 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:114339639G>A ENST00000407693.2 - 7 914 PTGR1_ENST00000238248.3_Intron|PTGR1_ENST00000538962.1_Intron|ZNF483_ENST00000358151.4_3'UTR|PTGR1_ENST00000309195.5_Intron NM_001146108.1 NP_001139580.1 Q14914 PTGR1_HUMAN prostaglandin reductase 1 NA NA arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|leukotriene metabolic process (GO:0006691)|lipoxin metabolic process (GO:2001300)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062) 13-prostaglandin reductase activity (GO:0036132)|15-oxoprostaglandin 13-oxidase activity (GO:0047522)|2-alkenal reductase [NAD(P)] activity (GO:0032440)|zinc ion binding (GO:0008270) endometrium(2)|large_intestine(5)|lung(3)|ovary(1) 11 tacactgcttgtgggaatgta 0.368 NA G||| 489 0.0976438 0.0023 0.0994 5008 , , NA 18128 0.248 NA 0.0636 False NA ,,, NA NA NA 2504 0.1053 NA NA NA Ovarian(200;132 2151 7551 19220 46064) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D49387 CCDS6779.1, CCDS55331.1 9q32 2008-06-04 2008-06-02 2008-06-02 ENSG00000106853 ENSG00000106853 22949 1.3.1.74, 1.3.1.48 18429 protein-coding gene gene with protein product zinc binding alcohol dehydrogenase domain containing 3 601274 leukotriene B4 12-hydroxydehydrogenase LTB4DH NA 8576264, 17449869 Standard NM_001146109 NA Approved ZADH3 uc004bfh.2 Q14914 OTTHUMG00000020493 ENST00000407693.2:c.651+1436C>T chr9.hg19:g.114339639G>A NA A8K0N2|B4DPK3|F5GY50|Q8IYQ0|Q9H1X6 hg19 CCDS6779.1 0.02 5.853193 CTTxTGG COVERED NOVEL PTGR1-202 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053647.2 2 3.611492 KEEP 0 0 0 12 407 GG 0.993634 0.993634 0 - 7 60 240 0 0 14.8434 154 60 5664 176 ENST00000407693.2 0.043478 1 PTGR1 22949 __UNKNOWN__ __UNKNOWN__ 9 114348193 114348193 __UNKNOWN__ Intron SNP C C T rs3818295 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:114348193C>T ENST00000407693.2 - 5 640 PTGR1_ENST00000238248.3_Intron|PTGR1_ENST00000538962.1_Intron|PTGR1_ENST00000309195.5_Intron NM_001146108.1 NP_001139580.1 Q14914 PTGR1_HUMAN prostaglandin reductase 1 NA NA arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|leukotriene metabolic process (GO:0006691)|lipoxin metabolic process (GO:2001300)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062) 13-prostaglandin reductase activity (GO:0036132)|15-oxoprostaglandin 13-oxidase activity (GO:0047522)|2-alkenal reductase [NAD(P)] activity (GO:0032440)|zinc ion binding (GO:0008270) endometrium(2)|large_intestine(5)|lung(3)|ovary(1) 11 CAAATATCTTCCTGTTGACCA 0.433 NA C||| 483 0.0964457 0.0023 0.1037 5008 , , NA 22614 0.2252 NA 0.0646 False NA ,,, NA NA NA 2504 0.1186 NA NA NA Ovarian(200;132 2151 7551 19220 46064) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D49387 CCDS6779.1, CCDS55331.1 9q32 2008-06-04 2008-06-02 2008-06-02 ENSG00000106853 ENSG00000106853 22949 1.3.1.74, 1.3.1.48 18429 protein-coding gene gene with protein product zinc binding alcohol dehydrogenase domain containing 3 601274 leukotriene B4 12-hydroxydehydrogenase LTB4DH NA 8576264, 17449869 Standard NM_001146109 NA Approved ZADH3 uc004bfh.2 Q14914 OTTHUMG00000020493 ENST00000407693.2:c.377+84G>A chr9.hg19:g.114348193C>T NA A8K0N2|B4DPK3|F5GY50|Q8IYQ0|Q9H1X6 hg19 CCDS6779.1 0.02 1.795163 CTTxCTG COVERED NOVEL PTGR1-202 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053647.2 2 4.814699 KEEP 0 0 0 16 521 CC 0.997832 0.996943 0 - 8 60 284 0 0 20.970681 71 60 2662 97 ENST00000407693.2 0.101266 0.99911 PTGR1 22949 __UNKNOWN__ __UNKNOWN__ 9 114359624 114359624 __UNKNOWN__ Missense_Mutation SNP C C A rs1053959 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:114359624C>A ENST00000407693.2 - 2 341 c.79G>T c.(79-81)Gct>Tct p.A27S PTGR1_ENST00000238248.3_5'UTR|PTGR1_ENST00000538962.1_Missense_Mutation_p.A27S|PTGR1_ENST00000309195.5_Missense_Mutation_p.A27S NM_001146108.1 NP_001139580.1 Q14914 PTGR1_HUMAN prostaglandin reductase 1 27 NA A -> S (in dbSNP:rs1053959). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.3}. arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|leukotriene metabolic process (GO:0006691)|lipoxin metabolic process (GO:2001300)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062) 13-prostaglandin reductase activity (GO:0036132)|15-oxoprostaglandin 13-oxidase activity (GO:0047522)|2-alkenal reductase [NAD(P)] activity (GO:0032440)|zinc ion binding (GO:0008270) endometrium(2)|large_intestine(5)|lung(3)|ovary(1) 11 GGGAGCTCAGCTGTCTTCAAC 0.413 NA C||| 2994 0.597843 0.5492 0.5836 5008 , , NA 22278 0.6587 NA 0.5696 False NA ,,, NA NA NA 2504 0.6401 NA NA NA Ovarian(200;132 2151 7551 19220 46064) NA 0 C SER/ALA,SER/ALA,SER/ALA 2471,1935 620.5+/-393.6 705,1061,437 111 100 104 79,79,79 -0.4 0 9 dbSNP_86 104 5173,3427 637.2+/-399.2 1574,2025,701 yes missense,missense,missense PTGR1 NM_001146108.1,NM_001146109.1,NM_012212.3 99,99,99 2279,3086,1138 AA,AC,CC 39.8488,43.9174,41.2271 benign,benign,benign 27/330,27/302,27/330 114359624 7644,5362 2203 4300 6503 SO:0001583 missense D49387 CCDS6779.1, CCDS55331.1 9q32 2008-06-04 2008-06-02 2008-06-02 ENSG00000106853 ENSG00000106853 22949 1.3.1.74, 1.3.1.48 18429 protein-coding gene gene with protein product zinc binding alcohol dehydrogenase domain containing 3 601274 leukotriene B4 12-hydroxydehydrogenase LTB4DH NA 8576264, 17449869 Standard NM_001146109 NA Approved ZADH3 uc004bfh.2 Q14914 OTTHUMG00000020493 ENST00000407693.2:c.79G>T chr9.hg19:g.114359624C>A ENSP00000385763:p.Ala27Ser NA A8K0N2|B4DPK3|F5GY50|Q8IYQ0|Q9H1X6 hg19 CCDS6779.1 0.02 10.798333 CAGxTGT COVERED 1279 0.5856227106227107 286 0.5813008130081301 213 0.5883977900552486 341 0.5961538461538461 439 0.579155672823219 C 9.694 1.152557 0.21371 0.560826 0.601512 ENSG00000106853 ENST00000538962;ENST00000309195;ENST00000407693;ENST00000333580;ENST00000422125;ENST00000374313;ENST00000374308 T;T;T;T 0.42513 0.97;0.97;0.97;0.97 4.63 -0.431 0.12295 GroES-like (1); 0.644240 0.16715 N 0.202489 T 0.00012 0.0000 N 0.20328 0.56 0.58432 P 1.0000000000287557E-6 B;B 0.16802 0.019;0.004 B;B 0.20577 0.03;0.007 T 0.44097 -0.9350 9 0.10636 T 0.68 0.4782 8.6856 0.34236 0.0:0.5206:0.0:0.4794 rs1053959;rs3178286;rs3194516;rs12553022;rs16916236;rs17846129;rs17859135;rs58734827 27;27 F5GY50;Q14914 .;PTGR1_HUMAN S 27 ENSP00000440281:A27S;ENSP00000311572:A27S;ENSP00000385763:A27S;ENSP00000395965:A27S ENSP00000311572:A27S A - 1 0 PTGR1 113399445 0.001000 0.12720 0.038000 0.18304 0.955000 0.61496 0.091000 0.15046 -0.078000 0.12730 0.462000 0.41574 GCT NOVEL PTGR1-202 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053647.2 1 14.081371 KEEP 0 1 32 58 2077 CC 1 1 0 - 16 60 576 0 0 38.951165 251 60 9463 367 ENST00000407693.2 0.059925 1 LRRC37A5P 652972 __UNKNOWN__ __UNKNOWN__ 9 114365951 114365951 __UNKNOWN__ RNA SNP A A G rs12236422 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:114365951A>G ENST00000374304.1 - 0 720 Q49AS3 L37A5_HUMAN leucine rich repeat containing 37, member A5, pseudogene NA NA NA gggcagtttcagaagcaaata 0.483 NA A||| 484 0.0966454 0.0053 0.0389 5008 , , NA 18161 0.2421 NA 0.0726 False NA ,,, NA NA NA 2504 0.136 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA BC031236 9q31.3 2012-10-16 2012-03-07 2012-03-07 ENSG00000204173 ENSG00000204173 652972 23369 pseudogene pseudogene chromosome 9 open reading frame 29 C9orf29 NA Standard NR_034087 NR_034087 NA Approved uc022bly.1 Q49AS3 OTTHUMG00000020494 ENST00000374304.1: chr9.hg19:g.114365951A>G NA Q5JVP0 hg19 0.02 10.34302 TTCxGAA COVERED NOVEL LRRC37A5P-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000053655.2 11 21.365517 KEEP 0 0 0 71 2260 AA 1 1 0 - 22 60 721 0 0 47.546046 307 60 11177 463 ENST00000374304.1 0.066869 1 LRRC37A5P 652972 __UNKNOWN__ __UNKNOWN__ 9 114365996 114365996 __UNKNOWN__ RNA SNP A A T rs10980959 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:114365996A>T ENST00000374304.1 - 0 675 Q49AS3 L37A5_HUMAN leucine rich repeat containing 37, member A5, pseudogene NA NA NA caggaaactgaaagtctgaga 0.433 NA A||| 483 0.0964457 0.0053 0.0389 5008 , , NA 19820 0.2421 NA 0.0726 False NA ,,, NA NA NA 2504 0.135 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA BC031236 9q31.3 2012-10-16 2012-03-07 2012-03-07 ENSG00000204173 ENSG00000204173 652972 23369 pseudogene pseudogene chromosome 9 open reading frame 29 C9orf29 NA Standard NR_034087 NR_034087 NA Approved uc022bly.1 Q49AS3 OTTHUMG00000020494 ENST00000374304.1: chr9.hg19:g.114365996A>T NA Q5JVP0 hg19 0.02 20.027657 CTGxAAG COVERED NOVEL LRRC37A5P-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000053655.2 7 24.969075 KEEP 0 0 0 83 2545 AA 1 1 0 - 27 60 989 0 0 67.420437 424 60 15263 647 ENST00000374304.1 0.059867 1 LRRC37A5P 652972 __UNKNOWN__ __UNKNOWN__ 9 114366094 114366094 __UNKNOWN__ RNA SNP G G C rs966627 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:114366094G>C ENST00000374304.1 - 0 577 Q49AS3 L37A5_HUMAN leucine rich repeat containing 37, member A5, pseudogene NA NA NA ctacacttttgtctgttccaT 0.463 NA C||| 2781 0.555312 0.8336 0.4813 5008 , , NA 18488 0.6687 NA 0.2922 False NA ,,, NA NA NA 2504 0.3855 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA BC031236 9q31.3 2012-10-16 2012-03-07 2012-03-07 ENSG00000204173 ENSG00000204173 652972 23369 pseudogene pseudogene chromosome 9 open reading frame 29 C9orf29 NA Standard NR_034087 NR_034087 NA Approved uc022bly.1 Q49AS3 OTTHUMG00000020494 ENST00000374304.1: chr9.hg19:g.114366094G>C NA Q5JVP0 hg19 0.02 24.913937 TTTxTCT COVERED NOVEL LRRC37A5P-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000053655.2 1 17.68583 KEEP 0 1 35 71 2495 GG 1 1 0 - 31 60 1163 0 1 80.192655 489 60 18497 736 ENST00000374304.1 0.059615 1 LRRC37A5P 652972 __UNKNOWN__ __UNKNOWN__ 9 114371322 114371322 __UNKNOWN__ RNA SNP T T C rs4978450 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:114371322T>C ENST00000374304.1 - 0 477 Q49AS3 L37A5_HUMAN leucine rich repeat containing 37, member A5, pseudogene NA NA NA TTTCTGTTCATTCTGGGCTTC 0.483 NA N||| 1043 0.208267 0.4032 0.0778 5008 , , NA 24010 0.1617 NA 0.1113 False NA ,,, NA NA NA 2504 0.1851 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA BC031236 9q31.3 2012-10-16 2012-03-07 2012-03-07 ENSG00000204173 ENSG00000204173 652972 23369 pseudogene pseudogene chromosome 9 open reading frame 29 C9orf29 NA Standard NR_034087 NR_034087 NA Approved uc022bly.1 Q49AS3 OTTHUMG00000020494 ENST00000374304.1: chr9.hg19:g.114371322T>C NA Q5JVP0 hg19 0.02 8.965395 TCAxTCT COVERED . . . . . . . . . . N 4.866 0.160935 0.09287 . . ENSG00000204173 ENST00000374306;ENST00000536054;ENST00000374304;ENST00000374302 . . . 0.957 0.957 0.19613 . . . . . T 0.43722 0.1260 . . . 0.09310 N 0.999994 . . . . . . T 0.51787 -0.8661 4 0.87932 D 0 . 3.6859 0.08328 0.0:0.7303:0.0:0.2697 rs4978450;rs58397692 . . . V 96;88;22;22 . ENSP00000363420:M22V M - 1 0 C9orf29 113411143 0.323000 0.24643 0.355000 0.25773 0.022000 0.10575 -1.070000 0.03440 0.007000 0.14760 -0.997000 0.02515 ATG NOVEL LRRC37A5P-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000053655.2 0 5.71645 KEEP 0 0 0 19 572 TT 0.99986 0.99986 0 - 8 60 276 0 0 16.921344 207 60 7622 266 ENST00000374304.1 0.037209 1 LRRC37A5P 652972 __UNKNOWN__ __UNKNOWN__ 9 114375519 114375519 __UNKNOWN__ RNA SNP G G A rs10980969 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:114375519G>A ENST00000374304.1 - 0 250 Q49AS3 L37A5_HUMAN leucine rich repeat containing 37, member A5, pseudogene NA NA NA AAACTTCCAGGAAGGACATGA 0.393 NA G||| 363 0.072484 0.003 0.0245 5008 , , NA 18254 0.1607 NA 0.0507 False NA ,,, NA NA NA 2504 0.1319 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA BC031236 9q31.3 2012-10-16 2012-03-07 2012-03-07 ENSG00000204173 ENSG00000204173 652972 23369 pseudogene pseudogene chromosome 9 open reading frame 29 C9orf29 NA Standard NR_034087 NR_034087 NA Approved uc022bly.1 Q49AS3 OTTHUMG00000020494 ENST00000374304.1: chr9.hg19:g.114375519G>A NA Q5JVP0 hg19 0.02 10.232445 CAGxAAG COVERED NOVEL LRRC37A5P-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000053655.2 0 7.221951 KEEP 0 0 0 24 817 GG 0.999909 0.999909 0 - 16 60 540 0 0 35.024844 270 60 9827 326 ENST00000374304.1 0.055944 1 LRRC37A5P 652972 __UNKNOWN__ __UNKNOWN__ 9 114375657 114375657 __UNKNOWN__ RNA SNP G G A rs10980970 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:114375657G>A ENST00000374304.1 - 0 250 Q49AS3 L37A5_HUMAN leucine rich repeat containing 37, member A5, pseudogene NA NA NA AATGGCTCTGGGTTACATAAT 0.323 NA G||| 232 0.0463259 0.0 0.0058 5008 , , NA 18874 0.1121 NA 0.0139 False NA ,,, NA NA NA 2504 0.1033 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA BC031236 9q31.3 2012-10-16 2012-03-07 2012-03-07 ENSG00000204173 ENSG00000204173 652972 23369 pseudogene pseudogene chromosome 9 open reading frame 29 C9orf29 NA Standard NR_034087 NR_034087 NA Approved uc022bly.1 Q49AS3 OTTHUMG00000020494 ENST00000374304.1: chr9.hg19:g.114375657G>A NA Q5JVP0 hg19 0.02 7.477503 CTGxGTT COVERED NOVEL LRRC37A5P-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000053655.2 6 12.039314 KEEP 0 0 0 40 1425 GG 1 1 0 - 17 60 615 0 0 44.68981 175 60 6405 292 ENST00000374304.1 0.088542 1 C9orf84 158401 __UNKNOWN__ __UNKNOWN__ 9 114468966 114468966 __UNKNOWN__ Missense_Mutation SNP A A C rs7036568 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:114468966A>C ENST00000394777.4 - 15 2449 c.2205T>G c.(2203-2205)aaT>aaG p.N735K C9orf84_ENST00000374287.3_Missense_Mutation_p.N809K|C9orf84_ENST00000394779.3_Missense_Mutation_p.N770K|C9orf84_ENST00000318737.4_Missense_Mutation_p.N809K Q5VXU9 CI084_HUMAN chromosome 9 open reading frame 84 809 NA breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 CAAATGAGAAATTACTCCAGG 0.358 NA C||| 1089 0.217452 0.3275 0.2205 5008 , , NA 16153 0.0476 NA 0.2475 False NA ,,, NA NA NA 2504 0.2106 NA NA NA NA 0 C LYS/ASN,LYS/ASN 1478,2928 675.8+/-403.1 246,986,971 143 159 153 2310,2427 -3.9 0.1 9 dbSNP_116 153 2164,6434 712.1+/-405.9 264,1636,2399 yes missense,missense C9orf84 NM_001080551.1,NM_173521.3 94,94 510,2622,3370 CC,CA,AA 25.1686,33.5452,28.0068 benign,benign 770/1406,809/1445 114468966 3642,9362 2203 4299 6502 SO:0001583 missense AL833535 CCDS6781.3, CCDS43863.1 9q32 2012-03-16 ENSG00000165181 ENSG00000165181 158401 26535 protein-coding gene gene with protein product NA Standard NM_173521 XM_005251738 NA Approved FLJ32779 uc004bfr.3 Q5VXU9 OTTHUMG00000020495 ENST00000394777.4:c.2205T>G chr9.hg19:g.114468966A>C ENSP00000378257:p.Asn735Lys NA A2A2V3|Q2M1H8|Q96M73 hg19 0.02 3.877573 GAAxTTA COVERED 469 0.21474358974358973 168 0.34146341463414637 78 0.2154696132596685 33 0.057692307692307696 190 0.25065963060686014 C 0.082 -1.181676 0.01633 0.335452 0.251686 ENSG00000165181 ENST00000394779;ENST00000394777;ENST00000394778;ENST00000374287;ENST00000318737 T;T;T;T 0.04156 3.69;3.7;3.7;3.7 4.84 -3.94 0.04130 . 1.009520 0.07955 N 0.981503 T 0.00012 0.0000 N 0.24115 0.695 0.80722 P 0.0 B;B;B 0.02656 0.0;0.0;0.0 B;B;B 0.06405 0.001;0.002;0.001 T 0.45877 -0.9231 9 0.02654 T 1 -0.0067 2.5329 0.04707 0.3654:0.196:0.3348:0.1039 rs7036568;rs57781556;rs7036568 735;809;770 A6PVK7;Q5VXU9;A2A2V3 .;CI084_HUMAN;. K 770;735;423;809;809 ENSP00000378259:N770K;ENSP00000378257:N735K;ENSP00000363405:N809K;ENSP00000322108:N809K ENSP00000322108:N809K N - 3 2 C9orf84 113508787 0.001000 0.12720 0.098000 0.21074 0.807000 0.45602 -0.190000 0.09615 -0.675000 0.05246 -1.740000 0.00687 AAT NOVEL C9orf84-004 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000316570.1 0 11.133938 KEEP 0 0 0 37 1188 AA 1 1 0 - 5 60 188 0 0 11.698277 143 60 5285 229 ENST00000394777.4 0.033784 1 C9orf84 158401 __UNKNOWN__ __UNKNOWN__ 9 114521630 114521630 __UNKNOWN__ 5'UTR SNP A A G rs10817215 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:114521630A>G ENST00000394777.4 - 0 183 C9orf84_ENST00000374287.3_Intron|C9orf84_ENST00000374283.5_Intron|C9orf84_ENST00000394779.3_5'UTR|C9orf84_ENST00000318737.4_Intron Q5VXU9 CI084_HUMAN chromosome 9 open reading frame 84 NA NA breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 TTCTTAAGTTATTCACATGGT 0.338 NA A||| 680 0.135783 0.1407 0.1354 5008 , , NA 18359 0.0268 NA 0.2286 False NA ,,, NA NA NA 2504 0.1462 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AL833535 CCDS6781.3, CCDS43863.1 9q32 2012-03-16 ENSG00000165181 ENSG00000165181 158401 26535 protein-coding gene gene with protein product NA Standard NM_173521 XM_005251738 NA Approved FLJ32779 uc004bfr.3 Q5VXU9 OTTHUMG00000020495 ENST00000394777.4:c.-62T>C chr9.hg19:g.114521630A>G NA A2A2V3|Q2M1H8|Q96M73 hg19 0.02 12.718364 GTTxTTC COVERED NOVEL C9orf84-004 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000316570.1 3 11.734521 KEEP 0 0 0 39 1196 AA 1 1 0 - 13 60 487 0 0 30.912637 329 60 12088 422 ENST00000394777.4 0.038012 1 UGCG 7357 __UNKNOWN__ __UNKNOWN__ 9 114659661 114659661 __UNKNOWN__ Intron SNP A A T rs3780519 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:114659661A>T ENST00000374279.3 + 1 548 UGCG_ENST00000495085.1_Intron NM_003358.1 NP_003349.1 Q16739 CEGT_HUMAN UDP-glucose ceramide glucosyltransferase NA NA epidermis development (GO:0008544)|glucosylceramide biosynthetic process (GO:0006679)|glycosphingolipid biosynthetic process (GO:0006688)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665) Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020) ceramide glucosyltransferase activity (GO:0008120) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(323;0.0433) Miglustat(DB00419) GAGAATGGGAAACGTTTGCGC 0.657 NA A||| 1587 0.316893 0.3525 0.3343 5008 , , NA 12487 0.3413 NA 0.3221 False NA ,,, NA NA NA 2504 0.226 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D50840 CCDS6782.1 9q31 2014-03-13 ENSG00000148154 ENSG00000148154 7357 2.4.1.80 Glycosyltransferase family 2 domain containing 12524 protein-coding gene gene with protein product glucosylceramide synthase, ceramide glucosyltransferase 602874 NA 8643456, 9605861 Standard NM_003358 NM_003358 NA Approved GCS uc004bft.3 Q16739 OTTHUMG00000020498 ENST00000374279.3:c.98+68A>T chr9.hg19:g.114659661A>T NA Q5T258 hg19 CCDS6782.1 0.02 1.979455 GGAxACG COVERED NOVEL UGCG-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053661.1 1 11.429306 KEEP 0 0 0 38 1098 AA 1 0.984161 0 + 4 60 134 0 0 9.022154 53 60 1845 128 ENST00000374279.3 0.070175 0.984161 SUSD1 64420 __UNKNOWN__ __UNKNOWN__ 9 114919924 114919924 __UNKNOWN__ Intron SNP G G C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:114919924G>C ENST00000374270.3 - 2 276 SUSD1_ENST00000374263.3_Intron|SUSD1_ENST00000374264.2_Intron NM_022486.3 NP_071931.2 Q6UWL2 SUSD1_HUMAN sushi domain containing 1 NA NA integral component of membrane (GO:0016021) calcium ion binding (GO:0005509) SUSD1/ROD1(2) central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 TTCAGAAAAAGAAAAATGCAA 0.383 NA NA NA NA NA NA NA NA NA NA NA 0 58 52 54 NA NA 9 NA 114919924 2203 4300 6503 SO:0001627 intron_variant AL137432 CCDS6783.1, CCDS65105.1, CCDS65106.1 9q31.3-q33.1 2008-02-05 ENSG00000106868 ENSG00000106868 64420 25413 protein-coding gene gene with protein product NA 12975309 Standard NM_022486 NM_022486 NA Approved DKFZP761E1824 uc004bfu.3 Q6UWL2 OTTHUMG00000020499 ENST00000374270.3:c.104-31C>G chr9.hg19:g.114919924G>C NA A1A4C5|A8KA03|Q5T8V6|Q5T8V7|Q6P9G7|Q8WU83|Q96DM9|Q9H6V2|Q9NTA7 hg19 CCDS6783.1 0.02 15.637032 AAAxAAA COVERED NOVEL SUSD1-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053668.3 5 13.242388 KEEP 0 0 0 44 1535 GG 1 1 0 - 12 60 456 0 0 28.130374 373 60 13911 489 ENST00000374270.3 0.031169 1 KIAA1958 158405 __UNKNOWN__ __UNKNOWN__ 9 115421788 115421788 __UNKNOWN__ Silent SNP C C A rs16917185 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:115421788C>A ENST00000337530.6 + 4 1886 c.1590C>A c.(1588-1590)atC>atA p.I530I KIAA1958_ENST00000536272.1_Silent_p.I558I NM_133465.2 NP_597722.1 Q8N8K9 K1958_HUMAN KIAA1958 530 NA endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3) 25 CTCGCAACATCGTCTACTTCT 0.567 NA C||| 533 0.10643 0.1997 0.0274 5008 , , NA 20775 0.0972 NA 0.0338 False NA ,,, NA NA NA 2504 0.1207 NA NA NA NA 0 C 778,3628 312.5+/-292.6 69,640,1494 62 53 56 1590 -0.9 1 9 dbSNP_123 56 229,8371 93.5+/-155.5 3,223,4074 no coding-synonymous KIAA1958 NM_133465.2 72,863,5568 AA,AC,CC 2.6628,17.6577,7.7426 530/717 115421788 1007,11999 2203 4300 6503 SO:0001819 synonymous_variant AB075838 CCDS35108.1, CCDS69642.1 9q33.1 2009-09-22 ENSG00000165185 ENSG00000165185 158405 23427 protein-coding gene gene with protein product NA Standard NM_133465 NM_001287038 NA Approved FLJ39294 uc004bgf.1 Q8N8K9 OTTHUMG00000020508 ENST00000337530.6:c.1590C>A chr9.hg19:g.115421788C>A NA B7ZKW6|Q2M336|Q5T252|Q8TF43|Q96N02 hg19 CCDS35108.1 0.02 14.68825 CATxGTC COVERED NOVEL KIAA1958-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000053690.1 1 22.597218 KEEP 0 1 28 85 2834 CC 1 1 0 + 15 60 551 0 0 35.041747 353 60 12686 556 ENST00000337530.6 0.040761 1 KIAA1958 158405 __UNKNOWN__ __UNKNOWN__ 9 115428747 115428747 __UNKNOWN__ 3'UTR SNP C C T rs41280183 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:115428747C>T ENST00000337530.6 + 0 8845 NM_133465.2 NP_597722.1 Q8N8K9 K1958_HUMAN KIAA1958 NA NA endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3) 25 gtccagaactctctcctccat 0.388 NA C||| 328 0.0654952 0.0552 0.0115 5008 , , NA 16056 0.0982 NA 0.0338 False NA ,,, NA NA NA 2504 0.1166 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB075838 CCDS35108.1, CCDS69642.1 9q33.1 2009-09-22 ENSG00000165185 ENSG00000165185 158405 23427 protein-coding gene gene with protein product NA Standard NM_133465 NM_001287038 NA Approved FLJ39294 uc004bgf.1 Q8N8K9 OTTHUMG00000020508 ENST00000337530.6:c.*6398C>T chr9.hg19:g.115428747C>T NA B7ZKW6|Q2M336|Q5T252|Q8TF43|Q96N02 hg19 CCDS35108.1 0.02 3.888602 ACTxTCT COVERED NOVEL KIAA1958-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000053690.1 0 7.524642 KEEP 0 0 0 25 892 CC 0.999931 0.99993 0 + 5 60 179 0 0 11.190439 119 60 4567 171 ENST00000337530.6 0.040323 0.999999 KIAA1958 158405 __UNKNOWN__ __UNKNOWN__ 9 115430157 115430157 __UNKNOWN__ 3'UTR SNP C C T rs11998945 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:115430157C>T ENST00000337530.6 + 0 10255 NM_133465.2 NP_597722.1 Q8N8K9 K1958_HUMAN KIAA1958 NA NA endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3) 25 TTTCAGTGGGCTCTGGGCTAT 0.353 NA C||| 336 0.0670927 0.056 0.0115 5008 , , NA 16739 0.1032 NA 0.0348 False NA ,,, NA NA NA 2504 0.1176 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB075838 CCDS35108.1, CCDS69642.1 9q33.1 2009-09-22 ENSG00000165185 ENSG00000165185 158405 23427 protein-coding gene gene with protein product NA Standard NM_133465 NM_001287038 NA Approved FLJ39294 uc004bgf.1 Q8N8K9 OTTHUMG00000020508 ENST00000337530.6:c.*7808C>T chr9.hg19:g.115430157C>T NA B7ZKW6|Q2M336|Q5T252|Q8TF43|Q96N02 hg19 CCDS35108.1 0.02 4.126746 GGGxTCT COVERED NOVEL KIAA1958-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000053690.1 1 8.427094 KEEP 0 0 0 28 990 CC 0.999997 0.999997 0 + 6 60 211 0 0 13.389372 125 60 4798 190 ENST00000337530.6 0.045802 1 SNX30 401548 __UNKNOWN__ __UNKNOWN__ 9 115632898 115632898 __UNKNOWN__ 3'UTR SNP G G A rs16917417 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:115632898G>A ENST00000374232.3 + 0 3253 SNX30_ENST00000604751.1_Intron NM_001012994.1 NP_001013012.1 Q5VWJ9 SNX30_HUMAN sorting nexin family member 30 NA NA apoptotic process (GO:0006915)|intracellular protein transport (GO:0006886) endosome (GO:0005768) phosphatidylinositol binding (GO:0035091) large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 TCATTGATGCGGACAGGTAAG 0.448 NA G||| 574 0.114617 0.0575 0.134 5008 , , NA 22543 0.1458 NA 0.1541 False NA ,,, NA NA NA 2504 0.1053 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK126644 CCDS43865.1 9q33.1 2014-02-12 ENSG00000148158 ENSG00000148158 401548 Sorting nexins 23685 protein-coding gene gene with protein product NA Standard NM_001012994 NA Approved ATG24A uc004bgj.4 Q5VWJ9 OTTHUMG00000020512 ENST00000374232.3:c.*1775G>A chr9.hg19:g.115632898G>A NA hg19 CCDS43865.1 0.02 13.519597 TGCxGAC COVERED NOVEL SNX30-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053700.1 0 7.221129 KEEP 0 0 0 24 815 GG 0.999909 0.999909 0 + 11 60 415 0 0 25.963296 309 60 10732 403 ENST00000374232.3 0.034375 1 SNX30 401548 __UNKNOWN__ __UNKNOWN__ 9 115636588 115636588 __UNKNOWN__ 3'UTR SNP T T C rs7026148 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:115636588T>C ENST00000374232.3 + 0 6943 SNX30_ENST00000604751.1_Intron NM_001012994.1 NP_001013012.1 Q5VWJ9 SNX30_HUMAN sorting nexin family member 30 NA NA apoptotic process (GO:0006915)|intracellular protein transport (GO:0006886) endosome (GO:0005768) phosphatidylinositol binding (GO:0035091) large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 ATTCCCTGTCTGTTGTATTTC 0.453 NA C||| 2591 0.517372 0.6687 0.4654 5008 , , NA 19373 0.3115 NA 0.6014 False NA ,,, NA NA NA 2504 0.4755 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK126644 CCDS43865.1 9q33.1 2014-02-12 ENSG00000148158 ENSG00000148158 401548 Sorting nexins 23685 protein-coding gene gene with protein product NA Standard NM_001012994 NA Approved ATG24A uc004bgj.4 Q5VWJ9 OTTHUMG00000020512 ENST00000374232.3:c.*5465T>C chr9.hg19:g.115636588T>C NA hg19 CCDS43865.1 0.02 4.205512 GTCxGTT COVERED NOVEL SNX30-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053700.1 0 4.512585 KEEP 0 0 0 15 463 TT 0.99649 0.996489 0 + 7 60 247 0 0 16.404716 115 60 4300 166 ENST00000374232.3 0.057377 0.999999 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 115873890 115873890 __UNKNOWN__ IGR SNP G G C rs80016582 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:115873890G>C NA NA FAM225B (137 upstream) : FAM225A (1462 downstream) NA NA NA AGCGGTGGTCGCTCGCCCCCT 0.716 NA g||| 709 0.141573 0.2163 0.0576 5008 , , NA 12649 0.1855 NA 0.0895 False NA ,,, NA NA NA 2504 0.1084 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.115873890G>C NA hg19 0.02 12.813828 GTCxCTC COVERED NOVEL 0 5 25.824869 KEEP 131 2 66 109 3778 GG 1 1 0 10 60 372 0 0 22.342143 334 60 10441 720 0.02907 1 SLC31A2 1318 __UNKNOWN__ __UNKNOWN__ 9 115913589 115913589 __UNKNOWN__ Intron SNP T T C rs112393959 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:115913589T>C ENST00000259392.3 + 1 139 SLC31A2_ENST00000490809.1_Intron NM_001860.2 NP_001851.1 O15432 COPT2_HUMAN solute carrier family 31 (copper transporter), member 2 NA NA cellular copper ion homeostasis (GO:0006878)|copper ion transport (GO:0006825)|regulation of copper ion transmembrane transport (GO:1902311) integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|recycling endosome (GO:0055037) copper ion transmembrane transporter activity (GO:0005375) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|stomach(1)|upper_aerodigestive_tract(1) 7 Carboplatin(DB00958)|Cisplatin(DB00515) GCAGTCCGGCTAGGCGAGCAG 0.677 NA T||| 480 0.0958466 0.1437 0.0418 5008 , , NA 10853 0.2044 NA 0.0358 False NA ,,, NA NA NA 2504 0.0194 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS6788.1 9q32 2013-07-17 2013-07-17 ENSG00000136867 ENSG00000136867 1318 Solute carriers 11017 protein-coding gene gene with protein product copper transporter 2 603088 COPT2 NA 9207117 Standard NM_001860 NM_001860 NA Approved hCTR2, CTR2 uc004bgq.3 O15432 OTTHUMG00000021037 ENST00000259392.3:c.6+229T>C chr9.hg19:g.115913589T>C NA hg19 CCDS6788.1 0.02 -0.219307 GGCxAGG COVERED NOVEL SLC31A2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055509.2 0 3.910308 KEEP 0 0 0 13 376 TT 0.994391 0.549786 0 + 4 60 154 0 0 12.535387 21 60 707 39 ENST00000259392.3 0.16 0.552887 SLC31A2 1318 __UNKNOWN__ __UNKNOWN__ 9 115918220 115918220 __UNKNOWN__ Intron SNP C C A rs10817447 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:115918220C>A ENST00000259392.3 + 2 139 NM_001860.2 NP_001851.1 O15432 COPT2_HUMAN solute carrier family 31 (copper transporter), member 2 NA NA cellular copper ion homeostasis (GO:0006878)|copper ion transport (GO:0006825)|regulation of copper ion transmembrane transport (GO:1902311) integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|recycling endosome (GO:0055037) copper ion transmembrane transporter activity (GO:0005375) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|stomach(1)|upper_aerodigestive_tract(1) 7 Carboplatin(DB00958)|Cisplatin(DB00515) GACTACTATTCTTTACTATCT 0.502 NA C||| 1611 0.321685 0.2806 0.3545 5008 , , NA 20182 0.1984 NA 0.4821 False NA ,,, NA NA NA 2504 0.316 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS6788.1 9q32 2013-07-17 2013-07-17 ENSG00000136867 ENSG00000136867 1318 Solute carriers 11017 protein-coding gene gene with protein product copper transporter 2 603088 COPT2 NA 9207117 Standard NM_001860 NM_001860 NA Approved hCTR2, CTR2 uc004bgq.3 O15432 OTTHUMG00000021037 ENST00000259392.3:c.7-1787C>A chr9.hg19:g.115918220C>A NA hg19 CCDS6788.1 0.02 1.768834 ATTxTTT COVERED NOVEL SLC31A2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055509.2 1 6.320568 KEEP 0 0 0 21 747 CC 0.999879 0.999286 0 + 4 60 145 0 0 9.469748 78 60 2971 121 ENST00000259392.3 0.04878 0.999407 FKBP15 23307 __UNKNOWN__ __UNKNOWN__ 9 115931703 115931703 __UNKNOWN__ Silent SNP G G A rs3810910 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:115931703G>A ENST00000238256.3 - 26 3403 c.3286C>T c.(3286-3288)Ctg>Ttg p.L1096L NM_015258.1 NP_056073.1 Q5T1M5 FKB15_HUMAN FK506 binding protein 15, 133kDa 1096 NA endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457) actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1) 26 GTCAGGGACAGTCTTGTGGAG 0.577 NA G||| 1420 0.283546 0.3351 0.2954 5008 , , NA 17925 0.1617 NA 0.3489 False NA ,,, NA NA NA 2504 0.2638 NA NA NA NA 0 G 1174,2710 177,820,945 96 98 98 3286 3.5 0 9 dbSNP_107 98 2704,5574 443,1818,1878 no coding-synonymous FKBP15 NM_015258.1 620,2638,2823 AA,AG,GG 32.6649,30.2266,31.8862 1096/1220 115931703 3878,8284 1942 4139 6081 SO:0001819 synonymous_variant AB014574 CCDS48007.1 9q33.1 2014-05-09 2006-10-31 2006-10-31 ENSG00000119321 ENSG00000119321 23307 Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits 23397 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 76, WASP and FKBP-like protein KIAA0674 KIAA0674 NA 16756961, 20376207 Standard NM_015258 NM_015258 NA Approved PPP1R76, FKBP133, WAFL uc004bgs.2 Q5T1M5 OTTHUMG00000020518 ENST00000238256.3:c.3286C>T chr9.hg19:g.115931703G>A NA Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0 hg19 CCDS48007.1 0.02 11.007043 ACAxTCT COVERED NOVEL FKBP15-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding 4 5.122102 KEEP 0 3 97 51 1819 GG 1 1 0 - 9 60 345 0 0 21.245806 291 60 10989 425 ENST00000238256.3 0.03 1 FKBP15 23307 __UNKNOWN__ __UNKNOWN__ 9 115946892 115946892 __UNKNOWN__ Intron SNP T T A rs10118429 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:115946892T>A ENST00000238256.3 - 16 1726 NM_015258.1 NP_056073.1 Q5T1M5 FKB15_HUMAN FK506 binding protein 15, 133kDa NA NA endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457) actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1) 26 ATGCAGGAAATCAAAGAAGAG 0.408 NA C||| 1394 0.278355 0.3192 0.2867 5008 , , NA 20279 0.1617 NA 0.3499 False NA ,,, NA NA NA 2504 0.2638 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB014574 CCDS48007.1 9q33.1 2014-05-09 2006-10-31 2006-10-31 ENSG00000119321 ENSG00000119321 23307 Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits 23397 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 76, WASP and FKBP-like protein KIAA0674 KIAA0674 NA 16756961, 20376207 Standard NM_015258 NM_015258 NA Approved PPP1R76, FKBP133, WAFL uc004bgs.2 Q5T1M5 OTTHUMG00000020518 ENST00000238256.3:c.1608+82A>T chr9.hg19:g.115946892T>A NA Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0 hg19 CCDS48007.1 0.02 17.563527 AAAxCAA COVERED NOVEL FKBP15-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding 5 10.97795 KEEP 0 2 64 59 1784 TT 1 1 0 - 14 60 496 0 0 28.641981 480 60 17643 658 ENST00000238256.3 0.02834 1 PRPF4 9128 __UNKNOWN__ __UNKNOWN__ 9 116048874 116048874 __UNKNOWN__ Intron SNP A A G rs4979232 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:116048874A>G ENST00000374198.4 + 9 913 PRPF4_ENST00000374199.4_Intron NM_001244926.1|NM_004697.4 NP_001231855.1|NP_004688.2 O43172 PRP4_HUMAN pre-mRNA processing factor 4 NA NA gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375) Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 snRNP (GO:0071001) NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2) 23 TTCATGTTTTAATAGTTGAAT 0.274 NA A||| 1233 0.246206 0.062 0.1499 5008 , , NA 19717 0.3681 NA 0.2773 False NA ,,, NA NA NA 2504 0.4059 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF001687 CCDS6791.1, CCDS59142.1 9q31-q33 2013-10-03 2013-10-03 ENSG00000136875 ENSG00000136875 9128 WD repeat domain containing 17349 protein-coding gene gene with protein product PRP4/STK/WD splicing factor, U4/U6 small nuclear ribonucleoprotein Prp4 607795 PRP4 pre-mRNA processing factor 4 homolog (yeast) NA 9257651, 9404889 Standard NM_004697 NM_004697 NA Approved Prp4p, HPRP4, HPRP4P, PRP4, SNRNP60 uc004bgx.3 O43172 OTTHUMG00000020517 ENST00000374198.4:c.812-111A>G chr9.hg19:g.116048874A>G NA O43445|O43864|Q5T1M8|Q96DG2|Q96IK4 hg19 CCDS6791.1 0.02 2.018952 TTTxATA COVERED NOVEL PRPF4-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000053708.2 0 2.707898 KEEP 0 0 0 9 275 AA 0.99254 0.992496 0 + 4 60 156 0 0 10.234389 95 60 3353 109 ENST00000374198.4 0.040404 0.999956 PRPF4 9128 __UNKNOWN__ __UNKNOWN__ 9 116054040 116054040 __UNKNOWN__ 3'UTR SNP C C T rs2418249 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:116054040C>T ENST00000374198.4 + 0 1771 PRPF4_ENST00000374199.4_3'UTR NM_001244926.1|NM_004697.4 NP_001231855.1|NP_004688.2 O43172 PRP4_HUMAN pre-mRNA processing factor 4 NA NA gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375) Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 snRNP (GO:0071001) NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2) 23 TGTTTTCTGCCAATTACCATG 0.473 NA C||| 780 0.155751 0.0287 0.1671 5008 , , NA 19683 0.3403 NA 0.0815 False NA ,,, NA NA NA 2504 0.2055 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF001687 CCDS6791.1, CCDS59142.1 9q31-q33 2013-10-03 2013-10-03 ENSG00000136875 ENSG00000136875 9128 WD repeat domain containing 17349 protein-coding gene gene with protein product PRP4/STK/WD splicing factor, U4/U6 small nuclear ribonucleoprotein Prp4 607795 PRP4 pre-mRNA processing factor 4 homolog (yeast) NA 9257651, 9404889 Standard NM_004697 NM_004697 NA Approved Prp4p, HPRP4, HPRP4P, PRP4, SNRNP60 uc004bgx.3 O43172 OTTHUMG00000020517 ENST00000374198.4:c.*100C>T chr9.hg19:g.116054040C>T NA O43445|O43864|Q5T1M8|Q96DG2|Q96IK4 hg19 CCDS6791.1 0.02 21.532572 TGCxAAT COVERED NOVEL PRPF4-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000053708.2 1 9.630941 KEEP 0 0 0 32 1102 CC 0.999997 0.999997 0 + 19 60 687 0 0 42.594274 488 60 17999 574 ENST00000374198.4 0.037475 1 RNF183 138065 __UNKNOWN__ __UNKNOWN__ 9 116061671 116061671 __UNKNOWN__ 5'UTR SNP C C T rs59841233 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:116061671C>T ENST00000478815.1 - 0 374 RNF183_ENST00000297894.5_Intron Q96D59 RN183_HUMAN ring finger protein 183 NA NA integral component of membrane (GO:0016021) zinc ion binding (GO:0008270) lung(1)|prostate(1)|skin(1) 3 TCTCTGGGGCCCTCATTTCTC 0.517 NA C||| 653 0.130391 0.0121 0.049 5008 , , NA 16848 0.3194 NA 0.0805 False NA ,,, NA NA NA 2504 0.2045 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant CCDS43866.1 9q32 2007-04-24 ENSG00000165188 ENSG00000165188 138065 RING-type (C3HC4) zinc fingers 28721 protein-coding gene gene with protein product NA 12477932 Standard NM_145051 NM_145051 NA Approved MGC4734 uc004bgz.3 Q96D59 OTTHUMG00000020520 ENST00000478815.1:c.-1207G>A chr9.hg19:g.116061671C>T NA hg19 CCDS43866.1 0.02 8.988417 GGCxCTC COVERED NOVEL RNF183-005 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000356360.1 0 14.746671 KEEP 0 0 0 49 1691 CC 1 1 0 - 9 60 330 0 0 21.361328 191 60 6909 304 ENST00000478815.1 0.045 1 BSPRY 54836 __UNKNOWN__ __UNKNOWN__ 9 116131873 116131873 __UNKNOWN__ Intron SNP A A C rs3827661 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:116131873A>C ENST00000374183.4 + 6 721 BSPRY_ENST00000462085.1_Intron NM_017688.2 NP_060158.2 Q5W0U4 BSPRY_HUMAN B-box and SPRY domain containing NA NA calcium ion transport (GO:0006816) cell leading edge (GO:0031252)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471) zinc ion binding (GO:0008270) breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1) 8 GCCCTCGGCAACTCTGAGAAT 0.527 NA A||| 765 0.152756 0.0741 0.2334 5008 , , NA 19785 0.2798 NA 0.1262 False NA ,,, NA NA NA 2504 0.0982 NA NA NA NA 0 A 272,3660 10,252,1704 73 73 73 4.2 0.9 9 dbSNP_107 73 1089,7261 66,957,3152 no intron BSPRY NM_017688.2 76,1209,4856 CC,CA,AA 13.0419,6.9176,11.0813 116131873 1361,10921 1966 4175 6141 SO:0001627 intron_variant AJ276691 CCDS43868.1 9q33.1 2008-02-05 ENSG00000119411 ENSG00000119411 54836 18232 protein-coding gene gene with protein product NA 10978534, 11099500 Standard NM_017688 NM_017688 NA Approved FLJ20150 uc004bhg.4 Q5W0U4 OTTHUMG00000021006 ENST00000374183.4:c.683-23A>C chr9.hg19:g.116131873A>C NA B3KS19|Q96DJ2|Q9H4E4|Q9NXN0 hg19 CCDS43868.1 0.02 9.12411 GCAxCTC COVERED NOVEL BSPRY-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055399.1 3 10.530188 KEEP 0 0 0 35 1082 AA 0.999999 0.999999 0 + 15 60 551 0 0 38.154751 216 60 7492 312 ENST00000374183.4 0.064935 1 ZNF618 114991 __UNKNOWN__ __UNKNOWN__ 9 116770776 116770776 __UNKNOWN__ Silent SNP C C T rs3748183 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:116770776C>T ENST00000374126.5 + 9 795 c.696C>T c.(694-696)gtC>gtT p.V232V ZNF618_ENST00000288466.7_Silent_p.V200V Q5T7W0 ZN618_HUMAN zinc finger protein 618 232 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(1)|endometrium(4)|lung(10)|urinary_tract(1) 16 ACCAAGGTGTCGTGGCCACGG 0.657 NA C||| 1519 0.303315 0.062 0.2565 5008 , , NA 17346 0.5962 NA 0.3439 False NA ,,, NA NA NA 2504 0.319 NA NA NA NA 0 C 424,3478 25,374,1552 49 57 55 600 -5.7 0.8 9 dbSNP_107 55 2698,5554 451,1796,1879 no coding-synonymous ZNF618 NM_133374.2 476,2170,3431 TT,TC,CC 32.6951,10.8662,25.687 200/862 116770776 3122,9032 1951 4126 6077 SO:0001819 synonymous_variant BC012922 CCDS48008.1 9q33.1 2010-04-21 ENSG00000157657 ENSG00000157657 114991 Zinc fingers, C2H2-type 29416 protein-coding gene gene with protein product neural precursor cell expressed, developmentally down-regulated 10 NA 11853319 Standard XM_054983 NM_133374 NA Approved KIAA1952, NEDD10 uc004bic.3 Q5T7W0 OTTHUMG00000020532 ENST00000374126.5:c.696C>T chr9.hg19:g.116770776C>T NA B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49 hg19 0.02 8.708897 TGTxGTG COVERED NOVEL ZNF618-004 KNOWN basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000053749.1 2 17.152802 KEEP 0 0 0 57 1876 CC 1 1 0 + 13 60 474 0 0 31.836392 220 60 7669 372 ENST00000374126.5 0.055794 1 ZNF618 114991 __UNKNOWN__ __UNKNOWN__ 9 116770785 116770785 __UNKNOWN__ Silent SNP G G A rs3748182 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:116770785G>A ENST00000374126.5 + 9 804 c.705G>A c.(703-705)acG>acA p.T235T ZNF618_ENST00000288466.7_Silent_p.T203T Q5T7W0 ZN618_HUMAN zinc finger protein 618 235 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(1)|endometrium(4)|lung(10)|urinary_tract(1) 16 TCGTGGCCACGGACGAGGTGA 0.672 NA G||| 1522 0.303914 0.062 0.2565 5008 , , NA 17362 0.5962 NA 0.3439 False NA ,,, NA NA NA 2504 0.3221 NA NA NA NA 0 G 422,3470 25,372,1549 47 55 53 609 -4.4 1 9 dbSNP_107 53 2692,5546 451,1790,1878 no coding-synonymous ZNF618 NM_133374.2 476,2162,3427 AA,AG,GG 32.6778,10.8428,25.6719 203/862 116770785 3114,9016 1946 4119 6065 SO:0001819 synonymous_variant BC012922 CCDS48008.1 9q33.1 2010-04-21 ENSG00000157657 ENSG00000157657 114991 Zinc fingers, C2H2-type 29416 protein-coding gene gene with protein product neural precursor cell expressed, developmentally down-regulated 10 NA 11853319 Standard XM_054983 NM_133374 NA Approved KIAA1952, NEDD10 uc004bic.3 Q5T7W0 OTTHUMG00000020532 ENST00000374126.5:c.705G>A chr9.hg19:g.116770785G>A NA B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49 hg19 0.02 9.397191 CACxGAC COVERED NOVEL ZNF618-004 KNOWN basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000053749.1 2 17.75587 KEEP 0 0 0 59 1999 GG 1 1 0 + 13 60 484 0 0 32.807465 221 60 7797 378 ENST00000374126.5 0.055556 1 ZNF618 114991 __UNKNOWN__ __UNKNOWN__ 9 116770918 116770918 __UNKNOWN__ Intron SNP G G A rs10817552 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:116770918G>A ENST00000374126.5 + 9 853 ZNF618_ENST00000288466.7_Intron Q5T7W0 ZN618_HUMAN zinc finger protein 618 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(1)|endometrium(4)|lung(10)|urinary_tract(1) 16 TAGGGCAGGGGTAGCAGTGGG 0.617 NA G||| 1531 0.305711 0.062 0.2565 5008 , , NA 18718 0.6042 NA 0.3449 False NA ,,, NA NA NA 2504 0.3221 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC012922 CCDS48008.1 9q33.1 2010-04-21 ENSG00000157657 ENSG00000157657 114991 Zinc fingers, C2H2-type 29416 protein-coding gene gene with protein product neural precursor cell expressed, developmentally down-regulated 10 NA 11853319 Standard XM_054983 NM_133374 NA Approved KIAA1952, NEDD10 uc004bic.3 Q5T7W0 OTTHUMG00000020532 ENST00000374126.5:c.754+84G>A chr9.hg19:g.116770918G>A NA B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49 hg19 0.02 1.933297 GGGxTAG COVERED NOVEL ZNF618-004 KNOWN basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000053749.1 1 3.912322 KEEP 0 0 0 13 438 GG 0.994391 0.99407 0 + 5 60 177 0 0 11.80475 81 60 3008 102 ENST00000374126.5 0.05814 0.999678 ZNF618 114991 __UNKNOWN__ __UNKNOWN__ 9 116812614 116812614 __UNKNOWN__ 3'UTR SNP A A G rs13299092 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:116812614A>G ENST00000288466.7 + 0 2852 NM_133374.2 NP_588615.2 Q5T7W0 ZN618_HUMAN zinc finger protein 618 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(1)|endometrium(4)|lung(10)|urinary_tract(1) 16 GTGTGCGTGTATGTACACAGC 0.468 NA A||| 1639 0.327276 0.0439 0.3199 5008 , , NA 17003 0.6161 NA 0.4125 False NA ,,, NA NA NA 2504 0.3303 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC012922 CCDS48008.1 9q33.1 2010-04-21 ENSG00000157657 ENSG00000157657 114991 Zinc fingers, C2H2-type 29416 protein-coding gene gene with protein product neural precursor cell expressed, developmentally down-regulated 10 NA 11853319 Standard XM_054983 NM_133374 NA Approved KIAA1952, NEDD10 uc004bic.3 Q5T7W0 OTTHUMG00000020532 ENST00000288466.7:c.*167A>G chr9.hg19:g.116812614A>G NA B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49 hg19 CCDS48008.1 0.02 13.906966 TGTxTGT COVERED NOVEL ZNF618-201 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding 5 11.43328 KEEP 0 0 0 38 1144 AA 1 1 0 + 14 60 506 0 0 32.532588 296 60 10738 377 ENST00000288466.7 0.045161 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 116861654 116861654 __UNKNOWN__ IGR SNP C C T rs13288531 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:116861654C>T NA NA KIF12 (317 upstream) : COL27A1 (56185 downstream) NA NA NA TGTCTACACACATCTTGCATT 0.567 NA C||| 747 0.149161 0.0083 0.147 5008 , , NA 16221 0.4494 NA 0.0577 False NA ,,, NA NA NA 2504 0.1258 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.116861654C>T NA hg19 0.02 25.816369 ACAxATC COVERED NOVEL 0 4 31.435997 KEEP 0 1 33 116 4103 CC 1 1 0 38 60 1347 2 0 90.803517 582 60 22238 902 0.06129 1 COL27A1 85301 __UNKNOWN__ __UNKNOWN__ 9 116918394 116918394 __UNKNOWN__ Intron SNP A A G rs7860877 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:116918394A>G ENST00000356083.3 + 1 453 NM_032888.2 NP_116277.2 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 NA NA extracellular matrix organization (GO:0030198) endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583) extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872) central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 GCGGAACGTCAGCTTCCTGCC 0.711 NA A||| 1305 0.260583 0.2224 0.1772 5008 , , NA 5594 0.4861 NA 0.1392 False NA ,,, NA NA NA 2504 0.2638 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB058773 CCDS6802.1 9q33.1 2013-01-16 ENSG00000196739 ENSG00000196739 85301 Collagens 22986 protein-coding gene gene with protein product 608461 NA 12766169 Standard NM_032888 NM_032888 NA Approved KIAA1870, MGC11337, FLJ11895 uc011lxl.2 Q8IZC6 OTTHUMG00000020537 ENST00000356083.3:c.62+102A>G chr9.hg19:g.116918394A>G NA Q66K43|Q96JF7 hg19 CCDS6802.1 0.02 11.203214 GTCxGCT COVERED NOVEL COL27A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053763.1 0 53.855737 KEEP 0 0 0 179 5537 AA 1 1 0 + 19 60 680 0 0 46.671655 269 60 9872 640 ENST00000356083.3 0.065972 1 COL27A1 85301 __UNKNOWN__ __UNKNOWN__ 9 116973361 116973361 __UNKNOWN__ Intron SNP C C T rs10982109 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:116973361C>T ENST00000356083.3 + 12 2758 NM_032888.2 NP_116277.2 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 NA NA extracellular matrix organization (GO:0030198) endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583) extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872) central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 CCACCTCCCACGGCCACGCTG 0.632 NA C||| 1578 0.315096 0.3623 0.2277 5008 , , NA 17905 0.6161 NA 0.1799 False NA ,,, NA NA NA 2504 0.1421 NA NA NA NA 0 C 426,958 61,304,327 65 62 63 -2.7 0 9 dbSNP_120 63 504,2678 38,428,1125 no intron COL27A1 NM_032888.2 99,732,1452 TT,TC,CC 15.8391,30.7803,20.3679 116973361 930,3636 692 1591 2283 SO:0001627 intron_variant AB058773 CCDS6802.1 9q33.1 2013-01-16 ENSG00000196739 ENSG00000196739 85301 Collagens 22986 protein-coding gene gene with protein product 608461 NA 12766169 Standard NM_032888 NM_032888 NA Approved KIAA1870, MGC11337, FLJ11895 uc011lxl.2 Q8IZC6 OTTHUMG00000020537 ENST00000356083.3:c.2367+55C>T chr9.hg19:g.116973361C>T NA Q66K43|Q96JF7 hg19 CCDS6802.1 0.02 9.021046 CCAxGGC COVERED NOVEL COL27A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053763.1 1 20.46275 KEEP 0 0 0 68 2356 CC 1 1 0 + 11 60 391 1 0 25.423085 209 60 7254 382 ENST00000356083.3 0.05 1 COL27A1 85301 __UNKNOWN__ __UNKNOWN__ 9 116980502 116980502 __UNKNOWN__ Intron SNP A A G rs16927416 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:116980502A>G ENST00000356083.3 + 13 2758 NM_032888.2 NP_116277.2 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 NA NA extracellular matrix organization (GO:0030198) endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583) extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872) central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 TGAGACTGGAATTTACCAGGG 0.537 NA A||| 477 0.0952476 0.1263 0.0605 5008 , , NA 19942 0.1429 NA 0.0755 False NA ,,, NA NA NA 2504 0.0491 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB058773 CCDS6802.1 9q33.1 2013-01-16 ENSG00000196739 ENSG00000196739 85301 Collagens 22986 protein-coding gene gene with protein product 608461 NA 12766169 Standard NM_032888 NM_032888 NA Approved KIAA1870, MGC11337, FLJ11895 uc011lxl.2 Q8IZC6 OTTHUMG00000020537 ENST00000356083.3:c.2368-1569A>G chr9.hg19:g.116980502A>G NA Q66K43|Q96JF7 hg19 CCDS6802.1 0.02 5.898584 GGAxTTT COVERED NOVEL COL27A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053763.1 2 18.655359 KEEP 0 0 0 62 1927 AA 1 1 0 + 6 60 213 0 0 12.604956 184 60 6690 320 ENST00000356083.3 0.031579 1 COL27A1 85301 __UNKNOWN__ __UNKNOWN__ 9 117028968 117028968 __UNKNOWN__ Intron SNP C C T rs35380914 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:117028968C>T ENST00000356083.3 + 33 3838 NM_032888.2 NP_116277.2 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 NA NA extracellular matrix organization (GO:0030198) endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583) extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872) central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 CTTCCCTCCTCCCCAGGAGCC 0.577 NA C||| 549 0.109625 0.0787 0.0461 5008 , , NA 20411 0.2083 NA 0.0557 False NA ,,, NA NA NA 2504 0.1503 NA NA NA NA 0 C 107,1277 0,107,585 39 41 41 -1.9 0 9 dbSNP_126 41 245,2937 14,217,1360 no intron COL27A1 NM_032888.2 14,324,1945 TT,TC,CC 7.6996,7.7312,7.7092 117028968 352,4214 692 1591 2283 SO:0001627 intron_variant AB058773 CCDS6802.1 9q33.1 2013-01-16 ENSG00000196739 ENSG00000196739 85301 Collagens 22986 protein-coding gene gene with protein product 608461 NA 12766169 Standard NM_032888 NM_032888 NA Approved KIAA1870, MGC11337, FLJ11895 uc011lxl.2 Q8IZC6 OTTHUMG00000020537 ENST00000356083.3:c.3447+70C>T chr9.hg19:g.117028968C>T NA Q66K43|Q96JF7 hg19 CCDS6802.1 0.02 6.361318 CCTxCCC COVERED NOVEL COL27A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053763.1 1 12.942268 KEEP 0 0 0 43 1527 CC 1 1 0 + 11 60 404 0 0 27.304789 183 60 6908 299 ENST00000356083.3 0.056701 1 COL27A1 85301 __UNKNOWN__ __UNKNOWN__ 9 117044458 117044458 __UNKNOWN__ Intron SNP A A G rs1628968 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:117044458A>G ENST00000356083.3 + 38 4108 NM_032888.2 NP_116277.2 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 NA NA extracellular matrix organization (GO:0030198) endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583) extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872) central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 gaacctggccatctgcctcca 0.557 NA A||| 1259 0.251398 0.1891 0.2522 5008 , , NA 16740 0.3512 NA 0.3012 False NA ,,, NA NA NA 2504 0.181 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB058773 CCDS6802.1 9q33.1 2013-01-16 ENSG00000196739 ENSG00000196739 85301 Collagens 22986 protein-coding gene gene with protein product 608461 NA 12766169 Standard NM_032888 NM_032888 NA Approved KIAA1870, MGC11337, FLJ11895 uc011lxl.2 Q8IZC6 OTTHUMG00000020537 ENST00000356083.3:c.3718-99A>G chr9.hg19:g.117044458A>G NA Q66K43|Q96JF7 hg19 CCDS6802.1 0.02 -0.30701 GCCxTCT COVERED NOVEL COL27A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053763.1 1 4.814276 KEEP 0 0 0 16 497 AA 0.997832 0.79851 0 + 3 60 103 0 0 7.286742 32 60 1148 52 ENST00000356083.3 0.085714 0.800245 COL27A1 85301 __UNKNOWN__ __UNKNOWN__ 9 117051003 117051003 __UNKNOWN__ Missense_Mutation SNP G G C rs149434700 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:117051003G>C ENST00000356083.3 + 43 4457 c.4066G>C c.(4066-4068)Gac>Cac p.D1356H NM_032888.2 NP_116277.2 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 1356 Collagen-like 12.|Pro-rich.|Triple-helical region. NA extracellular matrix organization (GO:0030198) endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583) extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872) central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 TGATCGAGGAGACCGCGGGGA 0.612 NA G||| 16 0.00319489 0.0 0.0 5008 , , NA 16217 0.0139 NA 0.0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 G HIS/ASP 0,4406 0,0,2203 65 70 68 4066 5.1 1 9 dbSNP_134 68 1,8599 1.2+/-3.3 0,1,4299 yes missense COL27A1 NM_032888.2 81 0,1,6502 CC,CG,GG 0.0116,0.0,0.0077 probably-damaging 1356/1861 117051003 1,13005 2203 4300 6503 SO:0001583 missense AB058773 CCDS6802.1 9q33.1 2013-01-16 ENSG00000196739 ENSG00000196739 85301 Collagens 22986 protein-coding gene gene with protein product 608461 NA 12766169 Standard NM_032888 NM_032888 NA Approved KIAA1870, MGC11337, FLJ11895 uc011lxl.2 Q8IZC6 OTTHUMG00000020537 ENST00000356083.3:c.4066G>C chr9.hg19:g.117051003G>C ENSP00000348385:p.Asp1356His NA Q66K43|Q96JF7 hg19 CCDS6802.1 0.02 12.048059 GGAxACC COVERED 9 0.004120879120879121 0 0.0 0 0.0 9 0.015734265734265736 0 0.0 G 15.62 2.886930 0.52014 0.0 1.16E-4 ENSG00000196739 ENST00000356083;ENST00000357257 D 0.91577 -2.87 5.06 5.06 0.68205 . . . . . D 0.88716 0.6512 L 0.56124 1.755 0.47949 D 0.999553 D 0.64830 0.994 D 0.64321 0.924 D 0.90408 0.4407 9 0.66056 D 0.02 . 15.9189 0.79544 0.0:0.0:1.0:0.0 . 1356 Q8IZC6 CORA1_HUMAN H 1356 ENSP00000348385:D1356H ENSP00000348385:D1356H D + 1 0 COL27A1 116090824 1.000000 0.71417 1.000000 0.80357 0.950000 0.60333 5.129000 0.64739 2.355000 0.79922 0.484000 0.47621 GAC NOVEL COL27A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053763.1 0 31.00111 KEEP 0 0 0 103 3683 GG 1 1 0 + 9 60 352 0 0 22.497535 252 60 9558 473 ENST00000356083.3 0.034483 1 COL27A1 85301 __UNKNOWN__ __UNKNOWN__ 9 117051614 117051614 __UNKNOWN__ Intron SNP A A G rs1249742 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:117051614A>G ENST00000356083.3 + 45 4597 NM_032888.2 NP_116277.2 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 NA NA extracellular matrix organization (GO:0030198) endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583) extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872) central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 ACTGAGTCCCAGGAAGGGGGA 0.677 NA G||| 1246 0.248802 0.3737 0.2104 5008 , , NA 11764 0.2976 NA 0.161 False NA ,,, NA NA NA 2504 0.1472 NA NA NA NA 0 G 1452,2894 261,930,982 8 9 8 -3.7 0 9 dbSNP_87 8 1237,7305 111,1015,3145 no intron COL27A1 NM_032888.2 372,1945,4127 GG,GA,AA 14.4814,33.41,20.8644 117051614 2689,10199 2173 4271 6444 SO:0001627 intron_variant AB058773 CCDS6802.1 9q33.1 2013-01-16 ENSG00000196739 ENSG00000196739 85301 Collagens 22986 protein-coding gene gene with protein product 608461 NA 12766169 Standard NM_032888 NM_032888 NA Approved KIAA1870, MGC11337, FLJ11895 uc011lxl.2 Q8IZC6 OTTHUMG00000020537 ENST00000356083.3:c.4206+39A>G chr9.hg19:g.117051614A>G NA Q66K43|Q96JF7 hg19 CCDS6802.1 0.02 4.188657 CCCxGGA COVERED NOVEL COL27A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053763.1 1 15.947784 KEEP 0 0 0 53 1647 AA 1 0.999999 0 + 8 60 261 0 0 17.085951 115 60 4157 233 ENST00000356083.3 0.065041 0.999999 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 117083293 117083293 __UNKNOWN__ IGR SNP C C T rs147547538 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:117083293C>T NA NA COL27A1 (8502 upstream) : ORM1 (2042 downstream) NA NA NA ccaacctgggcaacatgatga 0.577 NA C||| 42 0.00838658 0.0 0.0 5008 , , NA 12738 0.0417 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.117083293C>T NA hg19 0.02 -0.096383 GGGxAAC UNCOVERED NOVEL 0 0 2.709003 KEEP 0 0 0 9 334 CC 0.99254 0.119538 0 3 60 103 0 0 8.934384 8 60 284 26 0.272727 0.120436 ORM1 5004 __UNKNOWN__ __UNKNOWN__ 9 117085799 117085799 __UNKNOWN__ Intron SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:117085799G>A ENST00000259396.8 + 2 192 ORM1_ENST00000538816.1_Missense_Mutation_p.G129D NM_000607.2 NP_000598.2 P02763 A1AG1_HUMAN orosomucoid 1 NA NA acute-phase response (GO:0006953)|inflammatory response (GO:0006954)|regulation of immune system process (GO:0002682)|transport (GO:0006810) blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) endometrium(2)|large_intestine(4)|lung(2) 8 Myeloproliferative disorder(63;0.163) Abiraterone(DB05812)|Acenocoumarol(DB01418)|Ajmaline(DB01426)|Alfentanil(DB00802)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aprindine(DB01429)|Bupropion(DB01156)|Canagliflozin(DB08907)|Celecoxib(DB00482)|Chlorpromazine(DB00477)|Desipramine(DB01151)|Disopyramide(DB00280)|Doxazosin(DB00590)|Doxepin(DB01142)|Erlotinib(DB00530)|Fluoxetine(DB00472)|Gefitinib(DB00317)|Imatinib(DB00619)|Imipramine(DB00458)|Ivacaftor(DB08820)|Maprotiline(DB00934)|Mirabegron(DB08893)|Nateglinide(DB00731)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxycodone(DB00497)|Penbutolol(DB01359)|Pethidine(DB00454)|Phenprocoumon(DB00946)|Pitavastatin(DB08860)|Prazosin(DB00457)|Propranolol(DB00571)|Quinidine(DB00908)|Saquinavir(DB01232)|Tacrolimus(DB00864)|Tamsulosin(DB00706)|Telaprevir(DB05521)|Thalidomide(DB01041)|Trazodone(DB00656)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Vismodegib(DB08828)|Warfarin(DB00682) GATCCTCAGGGTGAGCTCCTG 0.602 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS6803.1 9q32 2013-09-19 ENSG00000229314 ENSG00000229314 5004 Lipocalins 8498 protein-coding gene gene with protein product 138600 NA Standard NM_000607 NA Approved uc004bik.4 P02763 OTTHUMG00000021012 ENST00000259396.8:c.115-144G>A chr9.hg19:g.117085799G>A NA B7ZKQ5|Q5T539|Q5U067|Q8TC16 hg19 CCDS6803.1 0.02 7.975609 AGGxTGA COVERED . . . . . . . . . . G 5.727 0.318539 0.10845 . . ENSG00000229314 ENST00000538816 T 0.44083 0.93 3.57 1.65 0.23941 . . . . . T 0.41351 0.1155 . . . 0.80722 P 0.0 . . . . . . T 0.52056 -0.8626 5 0.87932 D 0 . 5.0453 0.14480 0.1194:0.2135:0.6671:0.0 . . . . D 129 ENSP00000442679:G129D ENSP00000442679:G129D G + 2 0 ORM1 116125620 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -0.243000 0.08915 0.471000 0.27319 0.467000 0.42956 GGT NOVEL ORM1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055426.1 1 13.844405 KEEP 131 0 0 46 1601 GG 0.993072 0.993072 0 + 9 27 312 0 0 19.511444 194 40 6789 389 ENST00000259396.8 0.044335 1 ORM1 5004 __UNKNOWN__ __UNKNOWN__ 9 117087212 117087212 __UNKNOWN__ Intron SNP T T A rs10982154 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:117087212T>A ENST00000259396.8 + 4 514 ORM1_ENST00000477456.1_Intron NM_000607.2 NP_000598.2 P02763 A1AG1_HUMAN orosomucoid 1 NA NA acute-phase response (GO:0006953)|inflammatory response (GO:0006954)|regulation of immune system process (GO:0002682)|transport (GO:0006810) blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) endometrium(2)|large_intestine(4)|lung(2) 8 Myeloproliferative disorder(63;0.163) Abiraterone(DB05812)|Acenocoumarol(DB01418)|Ajmaline(DB01426)|Alfentanil(DB00802)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aprindine(DB01429)|Bupropion(DB01156)|Canagliflozin(DB08907)|Celecoxib(DB00482)|Chlorpromazine(DB00477)|Desipramine(DB01151)|Disopyramide(DB00280)|Doxazosin(DB00590)|Doxepin(DB01142)|Erlotinib(DB00530)|Fluoxetine(DB00472)|Gefitinib(DB00317)|Imatinib(DB00619)|Imipramine(DB00458)|Ivacaftor(DB08820)|Maprotiline(DB00934)|Mirabegron(DB08893)|Nateglinide(DB00731)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxycodone(DB00497)|Penbutolol(DB01359)|Pethidine(DB00454)|Phenprocoumon(DB00946)|Pitavastatin(DB08860)|Prazosin(DB00457)|Propranolol(DB00571)|Quinidine(DB00908)|Saquinavir(DB01232)|Tacrolimus(DB00864)|Tamsulosin(DB00706)|Telaprevir(DB05521)|Thalidomide(DB01041)|Trazodone(DB00656)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Vismodegib(DB08828)|Warfarin(DB00682) CTCATGCCCCTCTCAGGCCTC 0.617 NA t||| 314 0.0626997 0.0779 0.0576 5008 , , NA 19218 0.0635 NA 0.0755 False NA ,,, NA NA NA 2504 0.0317 NA NA NA NA 0 A 375,4031 1,373,1829 80 89 86 -5.8 0 9 dbSNP_120 86 599,7997 0,599,3699 no intron ORM1 NM_000607.2 1,972,5528 AA,AT,TT 6.9684,8.5111,7.4912 117087212 974,12028 2203 4298 6501 SO:0001627 intron_variant CCDS6803.1 9q32 2013-09-19 ENSG00000229314 ENSG00000229314 5004 Lipocalins 8498 protein-coding gene gene with protein product 138600 NA Standard NM_000607 NA Approved uc004bik.4 P02763 OTTHUMG00000021012 ENST00000259396.8:c.436+35T>A chr9.hg19:g.117087212T>A NA B7ZKQ5|Q5T539|Q5U067|Q8TC16 hg19 CCDS6803.1 0.02 1.779463 CCCxCTC COVERED NOVEL ORM1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055426.1 0 4.811958 KEEP 5 0 0 16 478 TT 0.99649 0.99581 0 + 6 54 210 0 0 14.585121 75 60 2471 106 ENST00000259396.8 0.074074 0.999317 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 117090434 117090434 __UNKNOWN__ IGR SNP C C T rs3762056 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:117090434C>T NA NA ORM1 (1679 upstream) : ORM2 (1714 downstream) NA NA NA AGGCTGGGGACACCGAGCTGA 0.577 NA -||| 324 0.0646965 0.0862 0.0548 5008 , , NA 25552 0.0645 NA 0.0746 False NA ,,, NA NA NA 2504 0.0327 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.117090434C>T NA hg19 0.02 4.114996 GGAxACC COVERED NOVEL 0 1 5.417267 KEEP 0 0 0 18 619 CC 0.999859 0.999859 0 15 60 546 0 0 40.879341 129 60 4520 174 0.104167 1 ORM2 5005 __UNKNOWN__ __UNKNOWN__ 9 117092366 117092366 __UNKNOWN__ Intron SNP A A C rs115684630 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:117092366A>C ENST00000431067.2 + 1 150 ORM2_ENST00000412657.1_Missense_Mutation_p.Y61S NM_000608.2 NP_000599.1 P19652 A1AG2_HUMAN orosomucoid 2 NA NA acute-phase response (GO:0006953)|regulation of immune system process (GO:0002682)|transport (GO:0006810) blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) breast(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1) 7 Myeloproliferative disorder(63;0.163) Chlorpromazine(DB00477)|Oxycodone(DB00497)|Thalidomide(DB01041) GCTTCCCTTTACCTGCTGGCT 0.642 NA -||| 809 0.161542 0.5174 0.0562 5008 , , NA 16890 0.0645 NA 0.0089 False NA ,,, NA NA NA 2504 0.0123 NA NA NA NSCLC(65;867 1308 1814 2391 12508) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS6804.1 9q32 2013-09-19 ENSG00000228278 ENSG00000228278 5005 Lipocalins 8499 protein-coding gene gene with protein product alpha-1-acid glycoprotein, type 2 138610 NA 4711474, 2970990 Standard NM_000608 NM_000608 NA Approved AGP-B, AGP-B', AGP2 P19652 OTTHUMG00000021014 ENST00000431067.2:c.114+68A>C chr9.hg19:g.117092366A>C NA B2R5L2|Q16571|Q5T538|Q6IB74 hg19 CCDS6804.1 0.02 7.005742 TTTxCCT COVERED . . . . . . . . . . - 4.003 -0.002154 0.07819 . . ENSG00000228278 ENST00000412657 T 0.38722 1.12 2.77 -4.54 0.03452 . . . . . T 0.13157 0.0319 . . . 0.80722 P 0.0 . . . . . . T 0.23404 -1.0189 5 0.08179 T 0.78 . 0.2437 0.00196 0.2577:0.1654:0.2738:0.3031 . . . . S 61 ENSP00000407099:Y61S ENSP00000407099:Y61S Y + 2 0 ORM2 116132187 0.000000 0.05858 0.000000 0.03702 0.056000 0.15407 -0.962000 0.03841 -1.780000 0.01279 -1.124000 0.02001 TAC NOVEL ORM2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055432.1 2 17.749426 KEEP 0 0 0 59 1769 AA 1 1 0 + 8 27 283 0 0 17.954332 181 60 6127 308 ENST00000431067.2 0.042328 1 ORM2 5005 __UNKNOWN__ __UNKNOWN__ 9 117094200 117094200 __UNKNOWN__ Silent SNP C C T rs1826232 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:117094200C>T ENST00000431067.2 + 5 567 c.531C>T c.(529-531)gaC>gaT p.D177D ORM2_ENST00000412657.1_3'UTR NM_000608.2 NP_000599.1 P19652 A1AG2_HUMAN orosomucoid 2 177 NA acute-phase response (GO:0006953)|regulation of immune system process (GO:0002682)|transport (GO:0006810) blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) breast(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1) 7 Myeloproliferative disorder(63;0.163) Chlorpromazine(DB00477)|Oxycodone(DB00497)|Thalidomide(DB01041) TGTACACCGACTGGAAAAAGG 0.567 NA T||| 747 0.149161 0.4894 0.0403 5008 , , NA 18828 0.0605 NA 0.002 False NA ,,, NA NA NA 2504 0.0092 NA NA NA NSCLC(65;867 1308 1814 2391 12508) NA 0 T 1790,2616 641.6+/-397.5 383,1024,796 92 92 92 531 -4.5 0 9 dbSNP_92 92 20,8580 818.0+/-406.9 0,20,4280 no coding-synonymous ORM2 NM_000608.2 383,1044,5076 TT,TC,CC 0.2326,40.6264,13.9167 177/202 117094200 1810,11196 2203 4300 6503 SO:0001819 synonymous_variant CCDS6804.1 9q32 2013-09-19 ENSG00000228278 ENSG00000228278 5005 Lipocalins 8499 protein-coding gene gene with protein product alpha-1-acid glycoprotein, type 2 138610 NA 4711474, 2970990 Standard NM_000608 NM_000608 NA Approved AGP-B, AGP-B', AGP2 P19652 OTTHUMG00000021014 ENST00000431067.2:c.531C>T chr9.hg19:g.117094200C>T NA B2R5L2|Q16571|Q5T538|Q6IB74 hg19 CCDS6804.1 0.02 4.261545 CGAxTGG COVERED NOVEL ORM2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055432.1 0 12.641612 KEEP 0 0 0 42 1526 CC 1 1 0 + 5 60 177 0 0 10.939335 122 60 4719 225 ENST00000431067.2 0.03937 1 AKNA 80709 __UNKNOWN__ __UNKNOWN__ 9 117106217 117106217 __UNKNOWN__ Intron SNP G G A rs1766085 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:117106217G>A ENST00000307564.4 - 19 3823 AKNA_ENST00000374088.3_Intron|AKNA_ENST00000492875.1_5'UTR|AKNA_ENST00000223791.3_Intron|AKNA_ENST00000374079.4_Intron|AKNA_ENST00000374075.5_Intron NM_030767.4 NP_110394.3 Q7Z591 AKNA_HUMAN AT-hook transcription factor NA NA positive regulation of transcription from RNA polymerase II promoter (GO:0045944) membrane (GO:0016020)|nucleus (GO:0005634) RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077) breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2) 51 GTGTGCACACGGTGAGTGTGC 0.388 NA G||| 592 0.118211 0.357 0.0346 5008 , , NA 23775 0.0536 NA 0.0 False NA ,,, NA NA NA 2504 0.0429 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK024431 CCDS6805.1 9q32 2008-02-05 ENSG00000106948 ENSG00000106948 80709 24108 protein-coding gene gene with protein product 605729 NA 11268217, 11853319 Standard NM_030767 NM_030767 NA Approved KIAA1968 uc004bis.3 Q7Z591 OTTHUMG00000020538 ENST00000307564.4:c.3662-134C>T chr9.hg19:g.117106217G>A NA Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7 hg19 CCDS6805.1 0.02 4.030219 CACxGTG COVERED NOVEL AKNA-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053767.2 2 5.417278 KEEP 0 0 0 18 609 GG 0.999859 0.999859 0 - 5 60 188 0 0 11.789886 137 60 4833 166 ENST00000307564.4 0.035211 1 AKNA 80709 __UNKNOWN__ __UNKNOWN__ 9 117110180 117110180 __UNKNOWN__ Splice_Site SNP G G A rs10982174 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:117110180G>A ENST00000307564.4 - 16 3383 c.3222C>T c.(3220-3222)gaC>gaT p.D1074D AKNA_ENST00000374088.3_Splice_Site_p.D1074D|AKNA_ENST00000223791.3_Splice_Site_p.D534D|AKNA_ENST00000374079.4_Splice_Site_p.S19S|AKNA_ENST00000374075.5_Splice_Site_p.D993D NM_030767.4 NP_110394.3 Q7Z591 AKNA_HUMAN AT-hook transcription factor 1074 NA positive regulation of transcription from RNA polymerase II promoter (GO:0045944) membrane (GO:0016020)|nucleus (GO:0005634) RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077) breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2) 51 AGATGGCCTGGCTGGGGTTGG 0.607 NA G||| 194 0.038738 0.0658 0.0173 5008 , , NA 15688 0.0526 NA 0.0 False NA ,,, NA NA NA 2504 0.0429 NA NA NA NA 0 G 307,4001 14,279,1861 18 16 17 3222 2.6 1 9 dbSNP_120 17 9,8437 0,9,4214 yes coding-synonymous-near-splice AKNA NM_030767.4 14,288,6075 AA,AG,GG 0.1066,7.1263,2.4777 1074/1440 117110180 316,12438 2154 4223 6377 SO:0001630 splice_region_variant AK024431 CCDS6805.1 9q32 2008-02-05 ENSG00000106948 ENSG00000106948 80709 24108 protein-coding gene gene with protein product 605729 NA 11268217, 11853319 Standard NM_030767 NM_030767 NA Approved KIAA1968 uc004bis.3 Q7Z591 OTTHUMG00000020538 ENST00000307564.4:c.3222-1C>T chr9.hg19:g.117110180G>A NA Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7 hg19 CCDS6805.1 0.02 5.755816 CTGxCTG COVERED NOVEL AKNA-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053767.2 2 35.21247 KEEP 0 0 0 117 4127 GG 1 1 0 Silent - 6 60 214 0 0 12.636969 189 60 6974 414 ENST00000307564.4 0.030769 1 AKNA 80709 __UNKNOWN__ __UNKNOWN__ 9 117136363 117136363 __UNKNOWN__ Intron SNP G G A rs76966330 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:117136363G>A ENST00000307564.4 - 4 1578 AKNA_ENST00000312033.3_Intron|AKNA_ENST00000374088.3_Intron|AKNA_ENST00000223791.3_Intron|AKNA_ENST00000374075.5_Intron NM_030767.4 NP_110394.3 Q7Z591 AKNA_HUMAN AT-hook transcription factor NA NA positive regulation of transcription from RNA polymerase II promoter (GO:0045944) membrane (GO:0016020)|nucleus (GO:0005634) RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077) breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2) 51 ACCCCATCCCGGCCTGGTACC 0.607 NA G||| 28 0.00559105 0.0 0.0 5008 , , NA 17725 0.0278 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 72 55 61 NA NA 9 NA 117136363 2187 4260 6447 SO:0001627 intron_variant AK024431 CCDS6805.1 9q32 2008-02-05 ENSG00000106948 ENSG00000106948 80709 24108 protein-coding gene gene with protein product 605729 NA 11268217, 11853319 Standard NM_030767 NM_030767 NA Approved KIAA1968 uc004bis.3 Q7Z591 OTTHUMG00000020538 ENST00000307564.4:c.1416+9C>T chr9.hg19:g.117136363G>A NA Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7 hg19 CCDS6805.1 0.02 4.009684 CCCxGCC COVERED NOVEL AKNA-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053767.2 0 9.628755 KEEP 0 0 0 32 1015 GG 0.999997 0.999997 0 - 5 60 173 0 0 10.441569 128 60 4079 175 ENST00000307564.4 0.037594 1 AKNA 80709 __UNKNOWN__ __UNKNOWN__ 9 117145583 117145583 __UNKNOWN__ Intron SNP A A G rs138510986 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:117145583A>G ENST00000307564.4 - 2 49 AKNA_ENST00000312033.3_Intron|AKNA_ENST00000374088.3_Intron NM_030767.4 NP_110394.3 Q7Z591 AKNA_HUMAN AT-hook transcription factor NA NA positive regulation of transcription from RNA polymerase II promoter (GO:0045944) membrane (GO:0016020)|nucleus (GO:0005634) RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077) breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2) 51 tctccctctcatctccttttg 0.582 NA G||| 28 0.00559105 0.0 0.0 5008 , , NA 19807 0.0278 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK024431 CCDS6805.1 9q32 2008-02-05 ENSG00000106948 ENSG00000106948 80709 24108 protein-coding gene gene with protein product 605729 NA 11268217, 11853319 Standard NM_030767 NM_030767 NA Approved KIAA1968 uc004bis.3 Q7Z591 OTTHUMG00000020538 ENST00000307564.4:c.113-1857T>C chr9.hg19:g.117145583A>G NA Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7 hg19 CCDS6805.1 0.02 8.898554 CTCxTCT COVERED NOVEL AKNA-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053767.2 3 24.671598 KEEP 0 0 0 82 2529 AA 1 1 0 - 8 60 305 0 0 19.18002 226 60 8062 408 ENST00000307564.4 0.034188 1 DFNB31 25861 __UNKNOWN__ __UNKNOWN__ 9 117187912 117187912 __UNKNOWN__ Intron SNP G G C rs56960670|rs60735238 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:117187912G>C ENST00000362057.3 - 4 1335 DFNB31_ENST00000374059.3_5'UTR|DFNB31_ENST00000265134.6_Intron NM_001173425.1|NM_015404.3 NP_001166896.1|NP_056219 Q9P202 WHRN_HUMAN deafness, autosomal recessive 31 NA NA inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605) actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420) central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 cacacacacagagagacacag 0.463 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK056190 CCDS6806.1, CCDS43870.1 9q32 2013-06-19 ENSG00000095397 ENSG00000095397 25861 16361 protein-coding gene gene with protein product whirlin 607928 NA 12833159, 17171570 Standard NM_015404 NM_015404 NA Approved CIP98, WHRN, USH2D, PDZD7B uc004biz.4 Q9P202 OTTHUMG00000020539 ENST00000362057.3:c.1166+578C>G chr9.hg19:g.117187912G>C NA A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3 hg19 CCDS6806.1 0.02 -0.359681 ACAxAGA COVERED NOVEL DFNB31-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053776.2 5 6.922669 KEEP 0 0 0 23 820 GG 0.999892 0.888779 0 - 3 60 101 0 1 6.93992 36 60 1330 79 ENST00000362057.3 0.076923 0.888875 C9orf91 203197 __UNKNOWN__ __UNKNOWN__ 9 117396237 117396237 __UNKNOWN__ Intron SNP C C T rs3810935 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:117396237C>T ENST00000288502.4 + 6 1022 C9orf91_ENST00000374049.4_Intron Q5VZI3 CI091_HUMAN chromosome 9 open reading frame 91 NA NA integral component of membrane (GO:0016021) endometrium(2)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1) 13 CTCATGTTCTCCCAGCCTACA 0.512 NA C||| 961 0.191893 0.2867 0.1196 5008 , , NA 21828 0.1379 NA 0.1769 False NA ,,, NA NA NA 2504 0.1861 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BX649023 CCDS6808.1 9q33.1 2008-02-05 ENSG00000157693 ENSG00000157693 203197 24513 protein-coding gene gene with protein product NA 14702039 Standard NM_153045 NM_153045 NA Approved DKFZp547P234, FLJ38045 uc004bjd.4 Q5VZI3 OTTHUMG00000020541 ENST00000288502.4:c.585+79C>T chr9.hg19:g.117396237C>T NA A0PJA3|Q3KNS4|Q5VZI2|Q6P5Z7|Q8N1P3|Q8ND43 hg19 CCDS6808.1 0.02 2.11004 TCTxCCA COVERED NOVEL C9orf91-002 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000053780.1 0 5.116625 KEEP 0 0 0 17 594 CC 0.999366 0.999329 0 + 4 60 143 0 0 8.919877 96 60 3566 141 ENST00000288502.4 0.04 0.999962 C9orf91 203197 __UNKNOWN__ __UNKNOWN__ 9 117399263 117399263 __UNKNOWN__ Intron SNP C C T rs41278669 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:117399263C>T ENST00000288502.4 + 7 1022 C9orf91_ENST00000374049.4_Intron Q5VZI3 CI091_HUMAN chromosome 9 open reading frame 91 NA NA integral component of membrane (GO:0016021) endometrium(2)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1) 13 GCTGCTTCTCCCCACAGCTTT 0.507 NA C||| 281 0.0561102 0.003 0.0504 5008 , , NA 19152 0.005 NA 0.1093 False NA ,,, NA NA NA 2504 0.1299 NA NA NA NA 0 C 96,4310 77.8+/-116.1 2,92,2109 156 133 141 -1.4 0 9 dbSNP_127 141 1000,7600 215.5+/-254.8 50,900,3350 no intron C9orf91 NM_153045.3 52,992,5459 TT,TC,CC 11.6279,2.1788,8.4269 117399263 1096,11910 2203 4300 6503 SO:0001627 intron_variant BX649023 CCDS6808.1 9q33.1 2008-02-05 ENSG00000157693 ENSG00000157693 203197 24513 protein-coding gene gene with protein product NA 14702039 Standard NM_153045 NM_153045 NA Approved DKFZp547P234, FLJ38045 uc004bjd.4 Q5VZI3 OTTHUMG00000020541 ENST00000288502.4:c.586-7C>T chr9.hg19:g.117399263C>T NA A0PJA3|Q3KNS4|Q5VZI2|Q6P5Z7|Q8N1P3|Q8ND43 hg19 CCDS6808.1 0.02 4.032293 CTCxCCA COVERED NOVEL C9orf91-002 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000053780.1 1 6.922421 KEEP 0 0 0 23 803 CC 0.999892 0.99989 0 + 5 60 180 0 0 11.381792 114 60 4223 176 ENST00000288502.4 0.042017 0.999998 RP11-402G3.3 0 __UNKNOWN__ __UNKNOWN__ 9 117433685 117433685 __UNKNOWN__ lincRNA SNP C C T rs2296948 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:117433685C>T ENST00000436752.1 - 0 84 NA NA NA GCTTGTGCTCCTGGGTTTGAC 0.517 NA T||| 3032 0.605431 0.6672 0.7363 5008 , , NA 19322 0.5605 NA 0.5676 False NA ,,, NA NA NA 2504 0.5143 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000436752.1: chr9.hg19:g.117433685C>T NA hg19 0.02 6.468829 CTCxTGG COVERED NOVEL RP11-402G3.3-001 KNOWN basic|exp_conf lincRNA NA lincRNA OTTHUMT00000053783.1 2 5.116413 KEEP 0 0 0 17 600 CC 0.999366 0.999366 0 - 7 60 251 0 0 15.980759 152 60 5707 221 ENST00000436752.1 0.044025 1 TNC 3371 __UNKNOWN__ __UNKNOWN__ 9 117791617 117791617 __UNKNOWN__ Intron SNP T T C rs12346540 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:117791617T>C ENST00000341037.4 - 22 5752 TNC_ENST00000423613.2_Intron|TNC_ENST00000345230.3_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000350763.4_Intron|TNC_ENST00000542877.1_Intron|TNC_ENST00000340094.3_Intron|TNC_ENST00000535648.1_Intron P24821 TENA_HUMAN tenascin C NA NA bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060) basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020) syndecan binding (GO:0045545) NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 ATTTTAGATATAAACATGCAG 0.478 NA T||| 750 0.14976 0.0666 0.1398 5008 , , NA 18678 0.129 NA 0.2753 False NA ,,, NA NA NA 2504 0.1616 NA NA NA NA 0 T 405,4001 200.4+/-223.7 21,363,1819 94 88 90 -1.9 0 9 dbSNP_120 90 2289,6311 386.5+/-341.9 312,1665,2323 no intron TNC NM_002160.3 333,2028,4142 CC,CT,TT 26.6163,9.192,20.7135 117791617 2694,10312 2203 4300 6503 SO:0001627 intron_variant CCDS6811.1 9q33.1 2014-01-28 2008-07-31 2002-06-07 ENSG00000041982 ENSG00000041982 3371 Fibrinogen C domain containing, Fibronectin type III domain containing 5318 protein-coding gene gene with protein product hexabrachion (tenascin) 187380 hexabrachion (tenascin C, cytotactin), deafness, autosomal dominant 56 HXB, DFNA56 NA 1704365, 1707164, 23936043 Standard NM_002160 NM_002160 NA Approved TN, MGC167029 uc004bjj.4 P24821 OTTHUMG00000021010 ENST00000341037.4:c.5623+21A>G chr9.hg19:g.117791617T>C NA C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3 hg19 0.02 6.439387 ATAxAAA COVERED NOVEL TNC-011 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000397659.2 0 5.409314 KEEP 0 0 0 18 511 TT 0.999859 0.999859 0 - 6 60 225 0 0 14.408306 145 60 5272 196 ENST00000341037.4 0.039735 1 TNC 3371 __UNKNOWN__ __UNKNOWN__ 9 117792583 117792583 __UNKNOWN__ Missense_Mutation SNP C C G rs13321 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:117792583C>G ENST00000341037.4 - 21 5604 c.5476G>C c.(5476-5478)Gag>Cag p.E1826Q TNC_ENST00000423613.2_Missense_Mutation_p.E1735Q|TNC_ENST00000345230.3_Missense_Mutation_p.E1371Q|TNC_ENST00000346706.3_Missense_Mutation_p.E1462Q|TNC_ENST00000537320.1_Missense_Mutation_p.E1371Q|TNC_ENST00000350763.4_Missense_Mutation_p.E2008Q|TNC_ENST00000542877.1_Missense_Mutation_p.E1645Q|TNC_ENST00000340094.3_Missense_Mutation_p.E1644Q|TNC_ENST00000535648.1_Missense_Mutation_p.E1553Q P24821 TENA_HUMAN tenascin C 2008 Fibronectin type-III 14. {ECO:0000255|PROSITE-ProRule:PRU00316}. NA bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060) basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020) syndecan binding (GO:0045545) NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 TCCAGCGCCTCAGCCTTATCA 0.557 NA G||| 3346 0.668131 0.7337 0.6772 5008 , , NA 20458 0.5625 NA 0.7207 False NA ,,, NA NA NA 2504 0.6278 NA NA NA NA 0 G GLN/GLU 3238,1168 412.6+/-336.2 1190,858,155 191 174 180 6022 5.3 0.9 9 dbSNP_52 180 6061,2539 414.3+/-351.4 2122,1817,361 yes missense TNC NM_002160.3 29 3312,2675,516 GG,GC,CC 29.5233,26.5093,28.5022 benign 2008/2202 117792583 9299,3707 2203 4300 6503 SO:0001583 missense CCDS6811.1 9q33.1 2014-01-28 2008-07-31 2002-06-07 ENSG00000041982 ENSG00000041982 3371 Fibrinogen C domain containing, Fibronectin type III domain containing 5318 protein-coding gene gene with protein product hexabrachion (tenascin) 187380 hexabrachion (tenascin C, cytotactin), deafness, autosomal dominant 56 HXB, DFNA56 NA 1704365, 1707164, 23936043 Standard NM_002160 NM_002160 NA Approved TN, MGC167029 uc004bjj.4 P24821 OTTHUMG00000021010 ENST00000341037.4:c.5476G>C chr9.hg19:g.117792583C>G ENSP00000339553:p.Glu1826Gln NA C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3 hg19 0.02 4.728866 CCTxAGC COVERED 1467|1467 0.6717032967032966|0.6717032967032966 357|357 0.725609756097561|0.725609756097561 234|234 0.6464088397790055|0.6464088397790055 311|311 0.5437062937062938|0.5437062937062938 565|565 0.7453825857519789|0.7453825857519789 G|G 4.353|4.353 0.065080|0.065080 0.08388|0.08388 0.734907|0.734907 0.704767|0.704767 ENSG00000041982|ENSG00000041982 ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877|ENST00000544972 T;T;T;T;T;T;T;T;T|. 0.76839|. -1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05|. 5.35|5.35 5.35|5.35 0.76521|0.76521 Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);|. 0.059684|. 0.64402|. N|. 0.000001|. T|. 0.00012|. 0.0000|. N|N 0.03253|0.03253 -0.375|-0.375 0.39712|0.39712 P|P 0.028650999999999982|0.028650999999999982 B;B|. 0.20261|. 0.043;0.0|. B;B|. 0.23716|. 0.048;0.002|. T|. 0.10590|. -1.0623|. 9|. 0.02654|. T|. 1|. .|. 16.5609|16.5609 0.84566|0.84566 0.0:0.1308:0.8692:0.0|0.0:0.1308:0.8692:0.0 rs13321;rs1061499;rs3202593;rs59614749;rs13321|rs13321;rs1061499;rs3202593;rs59614749;rs13321 1735;2008|. E9PC84;P24821|. .;TENA_HUMAN|. Q|S 1644;1553;1462;1371;2008;1826;1735;1371;1645|570 ENSP00000344400:E1644Q;ENSP00000438152:E1553Q;ENSP00000344555:E1462Q;ENSP00000345861:E1371Q;ENSP00000265131:E2008Q;ENSP00000339553:E1826Q;ENSP00000411406:E1735Q;ENSP00000443478:E1371Q;ENSP00000442242:E1645Q|. ENSP00000344400:E1644Q|. E|X -|- 1|2 0|2 TNC|TNC 116832404|116832404 1.000000|1.000000 0.71417|0.71417 0.950000|0.950000 0.38849|0.38849 0.206000|0.206000 0.24218|0.24218 6.277000|6.277000 0.72608|0.72608 1.405000|1.405000 0.46838|0.46838 -0.120000|-0.120000 0.15030|0.15030 GAG|TGA NOVEL TNC-011 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000397659.2 0 4.815876 KEEP 0 0 0 16 581 CC 0.997832 0.997832 0 - 6 60 235 0 0 15.570483 136 60 5222 204 ENST00000341037.4 0.042254 1 TNC 3371 __UNKNOWN__ __UNKNOWN__ 9 117848112 117848112 __UNKNOWN__ Intron SNP A A T rs1617917 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:117848112A>T ENST00000341037.4 - 2 1996 TNC_ENST00000423613.2_Intron|TNC_ENST00000345230.3_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000350763.4_Intron|TNC_ENST00000542877.1_Intron|TNC_ENST00000340094.3_Intron|TNC_ENST00000535648.1_Intron P24821 TENA_HUMAN tenascin C NA NA bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060) basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020) syndecan binding (GO:0045545) NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 CATCATGGCCATTATATGCTG 0.463 NA A||| 1603 0.320088 0.3411 0.3977 5008 , , NA 21527 0.251 NA 0.327 False NA ,,, NA NA NA 2504 0.3006 NA NA NA NA 0 A 1417,2989 230,957,1016 24 23 23 -7.3 0 9 dbSNP_89 23 2712,5888 423,1866,2011 no intron TNC NM_002160.3 653,2823,3027 TT,TA,AA 31.5349,32.1607,31.7469 117848112 4129,8877 2203 4300 6503 SO:0001627 intron_variant CCDS6811.1 9q33.1 2014-01-28 2008-07-31 2002-06-07 ENSG00000041982 ENSG00000041982 3371 Fibrinogen C domain containing, Fibronectin type III domain containing 5318 protein-coding gene gene with protein product hexabrachion (tenascin) 187380 hexabrachion (tenascin C, cytotactin), deafness, autosomal dominant 56 HXB, DFNA56 NA 1704365, 1707164, 23936043 Standard NM_002160 NM_002160 NA Approved TN, MGC167029 uc004bjj.4 P24821 OTTHUMG00000021010 ENST00000341037.4:c.1867+30T>A chr9.hg19:g.117848112A>T NA C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3 hg19 0.02 11.329895 GCCxTTA COVERED NOVEL TNC-011 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000397659.2 1 14.135765 KEEP 0 0 0 47 1472 AA 1 1 0 - 11 60 400 0 0 25.044962 275 60 10201 398 ENST00000341037.4 0.038462 1 TNC 3371 __UNKNOWN__ __UNKNOWN__ 9 117848201 117848201 __UNKNOWN__ Silent SNP T T C rs3827815 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:117848201T>C ENST00000341037.4 - 2 1937 c.1809A>G c.(1807-1809)caA>caG p.Q603Q TNC_ENST00000423613.2_Silent_p.Q603Q|TNC_ENST00000345230.3_Silent_p.Q603Q|TNC_ENST00000346706.3_Silent_p.Q603Q|TNC_ENST00000537320.1_Silent_p.Q603Q|TNC_ENST00000350763.4_Silent_p.Q603Q|TNC_ENST00000542877.1_Silent_p.Q603Q|TNC_ENST00000340094.3_Silent_p.Q603Q|TNC_ENST00000535648.1_Silent_p.Q603Q P24821 TENA_HUMAN tenascin C 603 EGF-like 15. {ECO:0000255|PROSITE- ProRule:PRU00076}. NA bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060) basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020) syndecan binding (GO:0045545) p.Q603Q(1) NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 CCGAGACGCATTGTCCTAAGT 0.622 NA T||| 496 0.0990415 0.053 0.0937 5008 , , NA 18901 0.119 NA 0.1213 False NA ,,, NA NA NA 2504 0.1217 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) T 223,4183 132.9+/-169.3 6,211,1986 64 54 57 1809 3.1 1 9 dbSNP_107 57 930,7670 203.7+/-246.6 46,838,3416 no coding-synonymous TNC NM_002160.3 52,1049,5402 CC,CT,TT 10.814,5.0613,8.8651 603/2202 117848201 1153,11853 2203 4300 6503 SO:0001819 synonymous_variant CCDS6811.1 9q33.1 2014-01-28 2008-07-31 2002-06-07 ENSG00000041982 ENSG00000041982 3371 Fibrinogen C domain containing, Fibronectin type III domain containing 5318 protein-coding gene gene with protein product hexabrachion (tenascin) 187380 hexabrachion (tenascin C, cytotactin), deafness, autosomal dominant 56 HXB, DFNA56 NA 1704365, 1707164, 23936043 Standard NM_002160 NM_002160 NA Approved TN, MGC167029 uc004bjj.4 P24821 OTTHUMG00000021010 ENST00000341037.4:c.1809A>G chr9.hg19:g.117848201T>C NA C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3 hg19 0.02 15.414907 GCAxTGT COVERED NOVEL TNC-011 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000397659.2 1 19.042369 KEEP 0 1 7 66 2042 TT 1 1 0 - 10 60 381 0 0 22.59519 388 60 13840 552 ENST00000341037.4 0.025126 1 TNC 3371 __UNKNOWN__ __UNKNOWN__ 9 117849314 117849314 __UNKNOWN__ Silent SNP T T C rs2992147 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:117849314T>C ENST00000341037.4 - 2 824 c.696A>G c.(694-696)gtA>gtG p.V232V TNC_ENST00000423613.2_Silent_p.V232V|TNC_ENST00000345230.3_Silent_p.V232V|TNC_ENST00000346706.3_Silent_p.V232V|TNC_ENST00000537320.1_Silent_p.V232V|TNC_ENST00000350763.4_Silent_p.V232V|TNC_ENST00000542877.1_Silent_p.V232V|TNC_ENST00000340094.3_Silent_p.V232V|TNC_ENST00000535648.1_Silent_p.V232V P24821 TENA_HUMAN tenascin C 232 EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}. NA bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060) basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020) syndecan binding (GO:0045545) NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 AGACTCCATTTACGCACTTGC 0.602 NA C||| 2255 0.45028 0.6021 0.5533 5008 , , NA 21340 0.2857 NA 0.4423 False NA ,,, NA NA NA 2504 0.3497 NA NA NA NA 0 C 2489,1917 547.8+/-377.4 707,1075,421 93 76 81 696 0.7 0 9 dbSNP_101 81 3766,4834 614.8+/-396.3 834,2098,1368 no coding-synonymous TNC NM_002160.3 1541,3173,1789 CC,CT,TT 43.7907,43.5089,48.0932 232/2202 117849314 6255,6751 2203 4300 6503 SO:0001819 synonymous_variant CCDS6811.1 9q33.1 2014-01-28 2008-07-31 2002-06-07 ENSG00000041982 ENSG00000041982 3371 Fibrinogen C domain containing, Fibronectin type III domain containing 5318 protein-coding gene gene with protein product hexabrachion (tenascin) 187380 hexabrachion (tenascin C, cytotactin), deafness, autosomal dominant 56 HXB, DFNA56 NA 1704365, 1707164, 23936043 Standard NM_002160 NM_002160 NA Approved TN, MGC167029 uc004bjj.4 P24821 OTTHUMG00000021010 ENST00000341037.4:c.696A>G chr9.hg19:g.117849314T>C NA C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3 hg19 0.02 25.205631 ATTxACG COVERED NOVEL TNC-011 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000397659.2 1 18.086142 KEEP 0 1 37 73 2165 TT 1 1 0 - 17 60 628 0 0 37.948308 537 60 18983 750 ENST00000341037.4 0.030686 1 TNC 3371 __UNKNOWN__ __UNKNOWN__ 9 117853022 117853022 __UNKNOWN__ Silent SNP C C T rs944510 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:117853022C>T ENST00000341037.4 - 1 404 c.276G>A c.(274-276)gtG>gtA p.V92V TNC_ENST00000423613.2_Silent_p.V92V|TNC_ENST00000345230.3_Silent_p.V92V|TNC_ENST00000346706.3_Silent_p.V92V|TNC_ENST00000537320.1_Silent_p.V92V|TNC_ENST00000350763.4_Silent_p.V92V|TNC_ENST00000542877.1_Silent_p.V92V|TNC_ENST00000340094.3_Silent_p.V92V|TNC_ENST00000535648.1_Silent_p.V92V P24821 TENA_HUMAN tenascin C 92 NA bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060) basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020) syndecan binding (GO:0045545) p.V92V(1) NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 TTTCCCCATCCACTGTGTGCT 0.592 NA C||| 2238 0.446885 0.6014 0.5216 5008 , , NA 19059 0.2837 NA 0.4463 False NA ,,, NA NA NA 2504 0.3538 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) C 2480,1926 625.1+/-394.5 700,1080,423 215 210 211 276 -1.1 0.6 9 dbSNP_86 211 3789,4811 537.4+/-383.2 843,2103,1354 no coding-synonymous TNC NM_002160.3 1543,3183,1777 TT,TC,CC 44.0581,43.7131,48.2008 92/2202 117853022 6269,6737 2203 4300 6503 SO:0001819 synonymous_variant CCDS6811.1 9q33.1 2014-01-28 2008-07-31 2002-06-07 ENSG00000041982 ENSG00000041982 3371 Fibrinogen C domain containing, Fibronectin type III domain containing 5318 protein-coding gene gene with protein product hexabrachion (tenascin) 187380 hexabrachion (tenascin C, cytotactin), deafness, autosomal dominant 56 HXB, DFNA56 NA 1704365, 1707164, 23936043 Standard NM_002160 NM_002160 NA Approved TN, MGC167029 uc004bjj.4 P24821 OTTHUMG00000021010 ENST00000341037.4:c.276G>A chr9.hg19:g.117853022C>T NA C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3 hg19 0.02 24.811632 ATCxACT COVERED NOVEL TNC-011 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000397659.2 1 23.475779 KEEP 0 0 0 78 2751 CC 1 1 0 - 28 60 1047 0 0 68.96124 571 60 21297 825 ENST00000341037.4 0.046745 1 DEC1 50514 __UNKNOWN__ __UNKNOWN__ 9 118163563 118163563 __UNKNOWN__ Missense_Mutation SNP C C T rs2269700 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:118163563C>T ENST00000374016.1 + 7 698 c.179C>T c.(178-180)gCc>gTc p.A60V NM_017418.2 NP_059114.1 Q9P2X7 DEC1_HUMAN deleted in esophageal cancer 1 60 NA A -> V (in dbSNP:rs2269700). negative regulation of cell proliferation (GO:0008285) kidney(1)|large_intestine(1)|ovary(1) 3 GTATCTCTTGCCAGGCCCAAG 0.408 NA T||| 3817 0.762181 0.9115 0.6009 5008 , , NA 21050 0.8492 NA 0.6451 False NA ,,, NA NA NA 2504 0.7055 NA NA NA NA 0 T VAL/ALA 3858,548 246.5+/-255.1 1697,464,42 127 125 126 179 -1.6 0 9 dbSNP_100 126 5294,3306 494.6+/-373.8 1665,1964,671 yes missense DEC1 NM_017418.2 64 3362,2428,713 TT,TC,CC 38.4419,12.4376,29.6325 benign 60/71 118163563 9152,3854 2203 4300 6503 SO:0001583 missense AB022761 CCDS6812.1 9q32 2008-02-05 ENSG00000173077 ENSG00000173077 50514 23658 protein-coding gene gene with protein product 604767 NA 8603412, 10612805 Standard NM_017418 NM_017418 NA Approved CTS9 uc004bjk.1 Q9P2X7 OTTHUMG00000020549 ENST00000374016.1:c.179C>T chr9.hg19:g.118163563C>T ENSP00000363128:p.Ala60Val NA hg19 CCDS6812.1 0.02 6.327364 TTGxCAG COVERED 1626 0.7445054945054945 432 0.8780487804878049 221 0.6104972375690608 474 0.8286713286713286 499 0.658311345646438 T 6.767 0.510439 0.12883 0.875624 0.615581 ENSG00000173077 ENST00000374016 T 0.57273 0.41 3.85 -1.58 0.08479 . . . . . T 0.00012 0.0000 . . . 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.28427 -1.0044 7 0.87932 D 0 . 0.09 0.00039 0.3142:0.1933:0.1617:0.3309 rs2269700;rs17292199;rs52803110;rs61681994;rs2269700 60 Q9P2X7 DEC1_HUMAN V 60 ENSP00000363128:A60V ENSP00000363128:A60V A + 2 0 DEC1 117203384 0.000000 0.05858 0.000000 0.03702 0.004000 0.04260 0.236000 0.17967 -0.628000 0.05582 -0.254000 0.11334 GCC NOVEL DEC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053791.1 1 4.149805 KEEP 0 1 35 26 940 CC 0.999988 0.999988 0 + 8 60 293 0 0 18.573946 190 60 7010 273 ENST00000374016.1 0.040404 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 118190043 118190043 __UNKNOWN__ IGR SNP T T C rs7029620 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:118190043T>C NA NA DEC1 (25120 upstream) : RP11-284G10.1 (311898 downstream) NA NA NA GAGTGAGTTTTGTTTTGTTTT 0.318 NA T||| 1214 0.242412 0.3661 0.1441 5008 , , NA 13092 0.4335 NA 0.1093 False NA ,,, NA NA NA 2504 0.0849 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.118190043T>C NA hg19 0.02 10.86044 TTTxGTT COVERED NOVEL 0 1 14.442244 KEEP 17 0 0 48 1489 TT 1 1 0 9 60 326 0 0 19.44477 284 60 10576 443 0.030717 1 PAPPA 5069 __UNKNOWN__ __UNKNOWN__ 9 119162545 119162545 __UNKNOWN__ 3'UTR SNP C C A rs3194846 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:119162545C>A ENST00000328252.3 + 0 8903 PAPPA-AS1_ENST00000445861.2_5'UTR NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 NA NA cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384) extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020) endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270) NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 TATTCTACAGCCTCAGTAGGT 0.313 NA A||| 4307 0.860024 0.8207 0.8876 5008 , , NA 18542 0.8135 NA 0.9165 False NA ,,, NA NA NA 2504 0.8834 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS6813.1 9q33.1 2014-03-05 ENSG00000182752 ENSG00000182752 5069 8602 protein-coding gene gene with protein product insulin-like growth factor-dependent IGF binding protein-4 protease, aspecific BCL2 ARE-binding protein 2, differentially placenta 1 expressed protein 176385 NA 7679961 Standard NM_002581 NM_002581 NA Approved PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1 uc004bjn.3 Q13219 OTTHUMG00000021045 ENST00000328252.3:c.*3650C>A chr9.hg19:g.119162545C>A NA B1AMF9|Q08371|Q68G52|Q9UDK7 hg19 CCDS6813.1 0.02 5.826678 CAGxCTC COVERED NOVEL PAPPA-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055546.1 1 4.046745 KEEP 0 1 27 23 797 CC 0.999957 0.999957 0 + 6 60 211 0 0 12.792782 158 60 5815 220 ENST00000328252.3 0.036585 1 PAPPA 5069 __UNKNOWN__ __UNKNOWN__ 9 119163067 119163067 __UNKNOWN__ 3'UTR SNP T T C rs10817885 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:119163067T>C ENST00000328252.3 + 0 9425 NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 NA NA cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384) extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020) endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270) NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 AAATGTATAATAGCCAAAAGA 0.333 NA T||| 570 0.113818 0.0272 0.1398 5008 , , NA 19003 0.0903 NA 0.2346 False NA ,,, NA NA NA 2504 0.1125 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS6813.1 9q33.1 2014-03-05 ENSG00000182752 ENSG00000182752 5069 8602 protein-coding gene gene with protein product insulin-like growth factor-dependent IGF binding protein-4 protease, aspecific BCL2 ARE-binding protein 2, differentially placenta 1 expressed protein 176385 NA 7679961 Standard NM_002581 NM_002581 NA Approved PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1 uc004bjn.3 Q13219 OTTHUMG00000021045 ENST00000328252.3:c.*4172T>C chr9.hg19:g.119163067T>C NA B1AMF9|Q08371|Q68G52|Q9UDK7 hg19 CCDS6813.1 0.02 9.57269 TAAxAGC COVERED NOVEL PAPPA-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055546.1 0 10.530825 KEEP 0 0 0 35 1074 TT 0.999999 0.999999 0 + 9 60 354 0 0 23.486894 205 60 7498 300 ENST00000328252.3 0.042056 1 ASTN2 23245 __UNKNOWN__ __UNKNOWN__ 9 119187839 119187839 __UNKNOWN__ 3'UTR SNP C C T rs7518 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:119187839C>T ENST00000361209.2 - 0 4289 ASTN2_ENST00000288520.5_3'UTR|ASTN2_ENST00000313400.4_3'UTR|ASTN2_ENST00000341734.4_3'UTR|ASTN2_ENST00000373996.3_3'UTR NM_014010.4 NP_054729.3 O75129 ASTN2_HUMAN astrotactin 2 NA NA negative regulation of protein localization to cell surface (GO:2000009) cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021) breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 ACTTCTGCCTCGGGATTGACA 0.418 NA C||| 1004 0.200479 0.1884 0.2046 5008 , , NA 17548 0.1806 NA 0.2773 False NA ,,, NA NA NA 2504 0.1554 NA NA NA NA 0 C ,,,, 866,3492 87,692,1400 26 31 29 ,,,, -1.3 0 9 dbSNP_52 29 2266,6324 293,1680,2322 no utr-3,utr-3,utr-3,utr-3,utr-3 ASTN2 NM_001184734.1,NM_014010.4,NM_198186.3,NM_198187.3,NM_198188.2 ,,,, 380,2372,3722 TT,TC,CC 26.3795,19.8715,24.1891 ,,,, ,,,, 119187839 3132,9816 2179 4295 6474 SO:0001624 3_prime_UTR_variant AF116574 CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1 9q33 2008-02-05 ENSG00000148219 ENSG00000148219 23245 17021 protein-coding gene gene with protein product 612856 NA 9734811 Standard NM_014010 NM_014010 NA Approved KIAA0634 uc004bjt.2 O75129 OTTHUMG00000021013 ENST00000361209.2:c.*291G>A chr9.hg19:g.119187839C>T NA A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6 hg19 CCDS6815.1 0.02 13.785996 CCTxGGG COVERED NOVEL ASTN2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055428.2 0 16.853377 KEEP 0 0 0 56 1885 CC 1 1 0 - 11 60 411 0 0 25.860205 290 60 10399 453 ENST00000361209.2 0.036545 1 ASTN2 23245 __UNKNOWN__ __UNKNOWN__ 9 119249822 119249822 __UNKNOWN__ Intron SNP T T C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:119249822T>C ENST00000361209.2 - 19 3334 ASTN2_ENST00000288520.5_Intron|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000313400.4_Intron|ASTN2_ENST00000341734.4_Intron|ASTN2_ENST00000373996.3_Intron NM_014010.4 NP_054729.3 O75129 ASTN2_HUMAN astrotactin 2 NA NA negative regulation of protein localization to cell surface (GO:2000009) cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021) breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 GCTCAGGCCATAGTGAGGAGA 0.408 NA NA NA NA NA NA NA NA NA NA NA 0 27 27 27 NA NA 9 NA 119249822 2203 4300 6503 SO:0001627 intron_variant AF116574 CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1 9q33 2008-02-05 ENSG00000148219 ENSG00000148219 23245 17021 protein-coding gene gene with protein product 612856 NA 9734811 Standard NM_014010 NM_014010 NA Approved KIAA0634 uc004bjt.2 O75129 OTTHUMG00000021013 ENST00000361209.2:c.3203-43A>G chr9.hg19:g.119249822T>C NA A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6 hg19 CCDS6815.1 0.02 4.36726 CCAxAGT COVERED NOVEL ASTN2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055428.2 1 11.433565 KEEP 0 0 0 38 1187 TT 1 0.999997 0 - 5 60 190 0 0 12.457179 110 60 3886 180 ENST00000361209.2 0.043478 0.999997 ASTN2 23245 __UNKNOWN__ __UNKNOWN__ 9 119447242 119447242 __UNKNOWN__ Intron SNP A A T rs375642696 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:119447242A>T ENST00000361209.2 - 16 2785 ASTN2_ENST00000288520.5_Intron|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000313400.4_Intron|ASTN2_ENST00000341734.4_Intron|ASTN2_ENST00000373996.3_Intron|ASTN2_ENST00000358637.4_Intron NM_014010.4 NP_054729.3 O75129 ASTN2_HUMAN astrotactin 2 NA NA negative regulation of protein localization to cell surface (GO:2000009) cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021) breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 ttcatagtttaaacaaagaca 0.423 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF116574 CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1 9q33 2008-02-05 ENSG00000148219 ENSG00000148219 23245 17021 protein-coding gene gene with protein product 612856 NA 9734811 Standard NM_014010 NM_014010 NA Approved KIAA0634 uc004bjt.2 O75129 OTTHUMG00000021013 ENST00000361209.2:c.2654-33170T>A chr9.hg19:g.119447242A>T NA A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6 hg19 CCDS6815.1 0.02 -0.429886 TTTxAAC COVERED NOVEL ASTN2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055428.2 0 5.115695 KEEP 0 0 0 17 539 AA 0.999366 0.953887 0 - 3 60 109 0 0 7.431441 46 60 1680 83 ENST00000361209.2 0.061224 0.954491 ASTN2 23245 __UNKNOWN__ __UNKNOWN__ 9 119903745 119903745 __UNKNOWN__ Intron SNP G G A rs117087850 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:119903745G>A ENST00000361209.2 - 4 1147 ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000373996.3_Missense_Mutation_p.A343V|ASTN2_ENST00000313400.4_Missense_Mutation_p.A343V NM_014010.4 NP_054729.3 O75129 ASTN2_HUMAN astrotactin 2 NA NA negative regulation of protein localization to cell surface (GO:2000009) cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021) breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 CTCCTGAGTCGCCTCAGCTGC 0.592 NA G||| 4 0.000798722 0.0 0.0 5008 , , NA 19329 0.004 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 G 1,4405 2.1+/-5.4 0,1,2202 57 50 53 1.7 1 9 dbSNP_132 53 1,8599 1.2+/-3.3 0,1,4299 no intron ASTN2 NM_014010.4 0,2,6501 AA,AG,GG 0.0116,0.0227,0.0154 119903745 2,13004 2203 4300 6503 SO:0001627 intron_variant AF116574 CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1 9q33 2008-02-05 ENSG00000148219 ENSG00000148219 23245 17021 protein-coding gene gene with protein product 612856 NA 9734811 Standard NM_014010 NM_014010 NA Approved KIAA0634 uc004bjt.2 O75129 OTTHUMG00000021013 ENST00000361209.2:c.1016-45315C>T chr9.hg19:g.119903745G>A NA A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6 hg19 CCDS6815.1 0.02 6.576466 GTCxCCT COVERED 4 0.0018315018315018315 0 0.0 0 0.0 4 0.006993006993006993 0 0.0 G 12.30 1.897241 0.33535 2.27E-4 1.16E-4 ENSG00000148219 ENST00000313400;ENST00000373996;ENST00000373986 T;T;T 0.11604 2.95;2.95;2.76 5.06 1.73 0.24493 . 0.345424 0.27677 N 0.018311 T 0.03827 0.0108 . . . 0.28388 N 0.919228 B;B 0.09022 0.001;0.002 B;B 0.04013 0.0;0.001 T 0.37361 -0.9709 8 . . . -11.8574 6.881 0.24173 0.461:0.0:0.539:0.0 . 343;343 O75129;O75129-3 ASTN2_HUMAN;. V 343;343;70 ENSP00000314038:A343V;ENSP00000363108:A343V;ENSP00000363098:A70V . A - 2 0 ASTN2 118943566 1.000000 0.71417 1.000000 0.80357 0.850000 0.48378 1.016000 0.29976 0.181000 0.19994 -1.151000 0.01829 GCG NOVEL ASTN2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055428.2 1 4.213009 KEEP 0 0 0 14 469 GG 0.995343 0.995343 0 - 9 60 309 0 0 19.727557 171 60 6210 230 ENST00000361209.2 0.05 1 RP11-295D22.1 0 __UNKNOWN__ __UNKNOWN__ 9 122275247 122275247 __UNKNOWN__ Silent SNP A A T rs10984573 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:122275247A>T ENST00000565320.1 + 2 228 c.102A>T c.(100-102)ctA>ctT p.L34L NA NA NA CAGAATTGCTACCGCAGGAAA 0.353 NA A||| 1511 0.301717 0.0991 0.2622 5008 , , NA 18238 0.5734 NA 0.2992 False NA ,,, NA NA NA 2504 0.3262 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001819 synonymous_variant NA NA NA NA ENST00000565320.1:c.102A>T chr9.hg19:g.122275247A>T NA hg19 0.02 1.719487 GCTxCCG COVERED NOVEL RP11-295D22.1-001 NOVEL basic|appris_principal protein_coding NA protein_coding OTTHUMT00000430676.1 0 3.610926 KEEP 0 0 0 12 375 AA 0.993634 0.99359 0 + 5 60 187 0 0 12.489005 94 60 3341 139 ENST00000565320.1 0.050505 0.999956 CDK5RAP2 55755 __UNKNOWN__ __UNKNOWN__ 9 123301346 123301346 __UNKNOWN__ Silent SNP T T G rs3750494 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:123301346T>G ENST00000349780.4 - 6 659 c.480A>C c.(478-480)ctA>ctC p.L160L CDK5RAP2_ENST00000360190.4_Silent_p.L160L|CDK5RAP2_ENST00000359309.3_Silent_p.L160L|CDK5RAP2_ENST00000360822.3_Silent_p.L160L NM_018249.4 NP_060719.4 Q96SN8 CK5P2_HUMAN CDK5 regulatory subunit associated protein 2 160 NA brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231) cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922) calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631) breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 58 TTCTTTTAGTTAGGAGATCTT 0.448 NA T||| 584 0.116613 0.0204 0.1009 5008 , , NA 18471 0.2907 NA 0.0626 False NA ,,, NA NA NA 2504 0.1339 NA NA NA NA 0 T , 176,4230 115.0+/-153.0 3,170,2030 186 185 185 480,480 -11.1 0 9 dbSNP_107 185 608,7992 159.8+/-213.0 19,570,3711 no coding-synonymous,coding-synonymous CDK5RAP2 NM_001011649.1,NM_018249.4 , 22,740,5741 GG,GT,TT 7.0698,3.9946,6.028 , 160/1815,160/1894 123301346 784,12222 2203 4300 6503 SO:0001819 synonymous_variant BK005504 CCDS6823.1, CCDS43871.1, CCDS75888.1 9q33.3 2014-02-21 ENSG00000136861 ENSG00000136861 55755 18672 protein-coding gene gene with protein product centrosomin 608201 microcephaly, primary autosomal recessive 3 MCPH3 NA 10721722, 17764569, 24466316 Standard NM_018249 NM_018249 NA Approved C48, FLJ10867, CEP215 uc004bkf.4 Q96SN8 OTTHUMG00000021043 ENST00000349780.4:c.480A>C chr9.hg19:g.123301346T>G NA Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9 hg19 CCDS6823.1 0.02 23.381008 AGTxAGG COVERED NOVEL CDK5RAP2-005 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000055535.1 4 32.791226 KEEP 0 0 0 109 3262 TT 1 1 0 - 19 60 725 1 0 46.111446 505 60 18006 779 ENST00000349780.4 0.03626 1 FBXW2 26190 __UNKNOWN__ __UNKNOWN__ 9 123538346 123538346 __UNKNOWN__ Intron SNP G G T rs72758110 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:123538346G>T ENST00000608872.1 - 5 1007 FBXW2_ENST00000340778.5_Intron|FBXW2_ENST00000493559.1_Intron NM_012164.3 NP_036296.2 Q9UKT8 FBXW2_HUMAN F-box and WD repeat domain containing 2 NA NA cellular protein modification process (GO:0006464)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508) cytoplasm (GO:0005737) ubiquitin-protein transferase activity (GO:0004842) ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 4 CTGATAAGCAGGAGACTTCTT 0.488 NA G||| 390 0.0778754 0.0008 0.0058 5008 , , NA 19054 0.3036 NA 0.0139 False NA ,,, NA NA NA 2504 0.0665 NA NA NA NA 0 G 17,4009 0,17,1996 131 135 134 0.8 0 9 dbSNP_130 134 111,8211 0,111,4050 no intron FBXW2 NM_012164.3 0,128,6046 TT,TG,GG 1.3338,0.4223,1.0366 123538346 128,12220 2013 4161 6174 SO:0001627 intron_variant AF129531 CCDS43872.1 9q34 2013-01-09 2007-02-08 ENSG00000119402 ENSG00000119402 26190 F-boxes / WD-40 domains, WD repeat domain containing 13608 protein-coding gene gene with protein product 609071 F-box and WD-40 domain protein 2 NA 10531035, 10828603 Standard NM_012164 NA Approved FBW2, Md6, Fwd2 uc004bkm.1 Q9UKT8 OTTHUMG00000020576 ENST00000608872.1:c.819+24C>A chr9.hg19:g.123538346G>T NA B3KRL8|Q4VXH2|Q7Z4V6|Q8WV51|Q9HA09|Q9UKA3 hg19 CCDS43872.1 0.02 5.789358 GCAxGAG COVERED NOVEL FBXW2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053834.2 0 12.942029 KEEP 0 0 0 43 1530 GG 1 1 0 - 6 60 209 0 0 12.191951 185 60 6980 290 ENST00000608872.1 0.031414 1 DAB2IP 153090 __UNKNOWN__ __UNKNOWN__ 9 124525862 124525862 __UNKNOWN__ Silent SNP C C T rs80008292 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:124525862C>T ENST00000309989.1 + 5 1024 c.877C>T c.(877-879)Ctg>Ttg p.L293L DAB2IP_ENST00000408936.3_Silent_p.L417L|DAB2IP_ENST00000259371.2_Silent_p.L389L NM_138709.1 NP_619723.1 Q5VWQ8 DAB2P_HUMAN DAB2 interacting protein 417 C2. NA activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324) axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886) 14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184) breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 27 GGAGAACACACTGGCCACCAA 0.617 NA C||| 33 0.00658946 0.0 0.0 5008 , , NA 20973 0.0327 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 C , 3,4403 6.2+/-15.9 0,3,2200 79 59 66 1165,877 3 1 9 dbSNP_131 66 1,8599 2.2+/-6.3 0,1,4299 no coding-synonymous,coding-synonymous DAB2IP NM_032552.2,NM_138709.1 , 0,4,6499 TT,TC,CC 0.0116,0.0681,0.0308 , 389/1133,293/1066 124525862 4,13002 2203 4300 6503 SO:0001819 synonymous_variant AF367051 CCDS6832.1, CCDS6833.2 9q33.1-q33.3 2008-07-21 ENSG00000136848 ENSG00000136848 153090 17294 protein-coding gene gene with protein product nGAP-like protein, DOC-2/DAB2 interactive protein, ASK-interacting protein, ASK1-interacting protein 1 609205 NA 11944990, 11812785 Standard NM_032552 XM_005251721 NA Approved AF9Q34, DIP1/2, KIAA1743, AIP1 uc004bln.3 Q5VWQ8 OTTHUMG00000020595 ENST00000309989.1:c.877C>T chr9.hg19:g.124525862C>T NA A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0 hg19 CCDS6832.1 0.02 12.615799 ACAxTGG COVERED NOVEL DAB2IP-004 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000053898.1 2 30.072343 KEEP 0 0 0 100 3614 CC 1 1 0 + 11 60 404 0 0 24.684977 321 60 11970 549 ENST00000309989.1 0.033133 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 124882474 124882474 __UNKNOWN__ IGR SNP A A C rs6478557 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:124882474A>C NA NA MIR4478 (28 upstream) : NDUFA8 (12270 downstream) NA NA NA CTAAGCCCAGAGACCCAGCTC 0.597 NA C||| 2730 0.545128 0.7882 0.5072 5008 , , NA 20468 0.6895 NA 0.2266 False NA ,,, NA NA NA 2504 0.4223 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.124882474A>C NA hg19 0.02 3.891455 CAGxGAC COVERED NOVEL 0 0 4.212387 KEEP 0 0 0 14 437 AA 0.995343 0.995312 0 5 60 168 0 0 10.548025 96 60 3548 133 0.049505 0.999968 LHX6 26468 __UNKNOWN__ __UNKNOWN__ 9 124967119 124967119 __UNKNOWN__ Intron SNP C C G rs60359238 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:124967119C>G ENST00000394319.4 - 10 1263 LHX6_ENST00000482062.1_Intron|LHX6_ENST00000340587.3_Intron|LHX6_ENST00000541397.2_Intron|LHX6_ENST00000373755.2_Intron|LHX6_ENST00000464484.2_Intron|LHX6_ENST00000373754.2_Intron|LHX6_ENST00000559895.1_Intron NM_014368.4 NP_055183.2 Q9UPM6 LHX6_HUMAN LIM homeobox 6 NA NA cell maturation (GO:0048469)|cerebral cortex GABAergic interneuron migration (GO:0021853)|cerebral cortex radially oriented cell migration (GO:0021799)|cerebral cortex tangential migration (GO:0021800)|forebrain neuron fate commitment (GO:0021877)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270) endometrium(2)|kidney(1)|large_intestine(5) 8 CTGCTGCCCCCCAGAGAACCT 0.587 NA C||| 676 0.134984 0.0106 0.17 5008 , , NA 17297 0.2907 NA 0.1421 False NA ,,, NA NA NA 2504 0.1104 NA NA NA NA 0 C ,,,, 37,1347 0,37,655 13 18 17 ,,,, 2.6 0.6 9 dbSNP_129 17 406,2776 25,356,1210 no intron,intron,intron,intron,intron LHX6 NM_001242333.1,NM_001242334.1,NM_001242335.1,NM_014368.4,NM_199160.3 ,,,, 25,393,1865 GG,GC,CC 12.7593,2.6734,9.7021 ,,,, ,,,, 124967119 443,4123 692 1591 2283 SO:0001627 intron_variant AB031041 CCDS6837.2, CCDS6838.2, CCDS56583.1, CCDS56584.1, CCDS59144.1 9q33.2 2011-06-20 ENSG00000106852 ENSG00000106852 26468 Homeoboxes / LIM class 21735 protein-coding gene gene with protein product 608215 NA 10393337 Standard NM_014368 NM_014368 NA Approved LHX6.1 uc004blx.4 Q9UPM6 OTTHUMG00000020601 ENST00000394319.4:c.1159-60G>C chr9.hg19:g.124967119C>G NA A6PVQ1|A6PVQ2|A8K1B2|B7Z4D0|H0YN76|Q5T7S7|Q5T7S8|Q9NTK3|Q9UPM5 hg19 CCDS6838.2 0.02 4.197499 CCCxCAG COVERED NOVEL LHX6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053923.3 0 7.52451 KEEP 0 0 0 25 883 CC 0.999931 0.99993 0 - 5 60 182 0 0 11.510074 118 60 4269 173 ENST00000394319.4 0.04065 0.999999 RBM18 92400 __UNKNOWN__ __UNKNOWN__ 9 125003695 125003695 __UNKNOWN__ 3'UTR SNP C C G rs77060171 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:125003695C>G ENST00000417201.3 - 0 1181 NM_033117.3 NP_149108.1 Q96H35 RBM18_HUMAN RNA binding motif protein 18 NA NA nucleotide binding (GO:0000166)|RNA binding (GO:0003723) breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3) 7 AATTCTGGAACAACAGTTCTG 0.378 NA C||| 80 0.0159744 0.0 0.0 5008 , , NA 17521 0.0784 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK057676 CCDS6839.1 9q34.11 2013-02-12 ENSG00000119446 ENSG00000119446 92400 RNA binding motif (RRM) containing 28413 protein-coding gene gene with protein product NA 12477932 Standard NM_033117 NM_033117 NA Approved MGC2734 uc004bma.2 Q96H35 OTTHUMG00000020602 ENST00000417201.3:c.*468G>C chr9.hg19:g.125003695C>G NA B3KQ89 hg19 CCDS6839.1 0.02 7.112994 GAAxAAC COVERED NOVEL RBM18-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053928.2 2 6.922754 KEEP 0 0 0 23 824 CC 0.999892 0.999892 0 - 7 60 268 2 0 17.15863 181 60 6936 237 ENST00000417201.3 0.037234 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 125278829 125278829 __UNKNOWN__ IGR SNP G G A rs113432623 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:125278829G>A NA NA OR1J2 (4807 upstream) : OR1J4 (2590 downstream) NA NA NA tgatccgcccgcctcggcctc 0.537 NA -||| 406 0.0810703 0.0174 0.0115 5008 , , NA 15415 0.2817 NA 0.0149 False NA ,,, NA NA NA 2504 0.0777 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.125278829G>A NA hg19 0.02 -0.086359 CCCxCCT UNCOVERED NOVEL 0 7 2.407433 KEEP 8 0 0 8 273 GG 0 0 0 2 60 74 0 0 6.302742 7 60 201 25 0.222222 0.099721 OR1N1 138883 __UNKNOWN__ __UNKNOWN__ 9 125288893 125288893 __UNKNOWN__ Missense_Mutation SNP C C T rs58226717 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:125288893C>T ENST00000304880.2 - 1 679 c.680G>A c.(679-681)cGa>cAa p.R227Q NM_012363.1 NP_036495.1 Q8NGS0 OR1N1_HUMAN olfactory receptor, family 1, subfamily N, member 1 227 NA R -> Q (in dbSNP:rs58226717). integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 ACCACGGGTTCGGACCCTCAG 0.537 NA C||| 483 0.0964457 0.0734 0.0187 5008 , , NA 22785 0.2798 NA 0.0149 False NA ,,, NA NA NA 2504 0.0777 NA NA NA NA 0 C GLN/ARG 263,4143 149.2+/-183.4 7,249,1947 86 73 78 680 -7.5 0 9 dbSNP_129 78 114,8486 60.6+/-122.4 2,110,4188 yes missense OR1N1 NM_012363.1 43 9,359,6135 TT,TC,CC 1.3256,5.9691,2.8987 benign 227/312 125288893 377,12629 2203 4300 6503 SO:0001583 missense U86216 CCDS6844.1 9q34.11 2012-08-09 ENSG00000171505 ENSG00000171505 138883 GPCR / Class A : Olfactory receptors 8221 protein-coding gene gene with protein product OR1N3 NA 9500546 Standard NM_012363 NA Approved OR1-26 uc004bmn.1 Q8NGS0 OTTHUMG00000020608 ENST00000304880.2:c.680G>A chr9.hg19:g.125288893C>T ENSP00000306974:p.Arg227Gln NA A3KFM1|O43870|Q6IF16|Q96R93 hg19 CCDS6844.1 0.02 10.551893 GTTxGGA COVERED 241 0.11034798534798534 32 0.06504065040650407 7 0.019337016574585635 193 0.3374125874125874 9 0.011873350923482849 C 11.08 1.533018 0.27387 0.059691 0.013256 ENSG00000171505 ENST00000304880 T 0.37915 1.17 3.75 -7.49 0.01355 GPCR, rhodopsin-like superfamily (1); 0.293204 0.17403 U 0.175464 T 0.00012 0.0000 N 0.17278 0.47 0.80722 P 0.0 B 0.20671 0.047 B 0.10450 0.005 T 0.32587 -0.9901 9 0.72032 D 0.01 . 6.5113 0.22224 0.0849:0.0918:0.4865:0.3368 rs58226717 227 Q8NGS0 OR1N1_HUMAN Q 227 ENSP00000306974:R227Q ENSP00000306974:R227Q R - 2 0 OR1N1 124328714 0.000000 0.05858 0.000000 0.03702 0.012000 0.07955 -6.175000 0.00077 -2.251000 0.00700 0.545000 0.68477 CGA NOVEL OR1N1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053938.1 2 4.514395 KEEP 0 0 0 15 509 CC 0.99649 0.99649 0 - 12 60 442 0 0 28.142789 283 60 9935 349 ENST00000304880.2 0.040678 1 OR1N1 138883 __UNKNOWN__ __UNKNOWN__ 9 125289083 125289083 __UNKNOWN__ Silent SNP A A G rs16911867 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:125289083A>G ENST00000304880.2 - 1 489 c.490T>C c.(490-492)Ttg>Ctg p.L164L NM_012363.1 NP_036495.1 Q8NGS0 OR1N1_HUMAN olfactory receptor, family 1, subfamily N, member 1 164 NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 CAGAAGGACAACCGAGCCATG 0.512 NA A||| 1956 0.390575 0.3661 0.3876 5008 , , NA 19958 0.505 NA 0.3231 False NA ,,, NA NA NA 2504 0.3773 NA NA NA NA 0 A 1604,2802 497.6+/-363.9 284,1036,883 93 79 84 490 -1.9 0 9 dbSNP_123 84 2585,6015 420.6+/-353.4 395,1795,2110 no coding-synonymous OR1N1 NM_012363.1 679,2831,2993 GG,GA,AA 30.0581,36.4049,32.2082 164/312 125289083 4189,8817 2203 4300 6503 SO:0001819 synonymous_variant U86216 CCDS6844.1 9q34.11 2012-08-09 ENSG00000171505 ENSG00000171505 138883 GPCR / Class A : Olfactory receptors 8221 protein-coding gene gene with protein product OR1N3 NA 9500546 Standard NM_012363 NA Approved OR1-26 uc004bmn.1 Q8NGS0 OTTHUMG00000020608 ENST00000304880.2:c.490T>C chr9.hg19:g.125289083A>G NA A3KFM1|O43870|Q6IF16|Q96R93 hg19 CCDS6844.1 0.02 17.539035 ACAxCCG COVERED NOVEL OR1N1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053938.1 2 12.634842 KEEP 0 0 0 42 1301 AA 1 1 0 - 15 60 510 1 0 30.51889 403 60 13137 604 ENST00000304880.2 0.035885 1 OR1N2 138882 __UNKNOWN__ __UNKNOWN__ 9 125316157 125316157 __UNKNOWN__ Missense_Mutation SNP C C T rs41316976 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:125316157C>T ENST00000373688.2 + 1 767 c.709C>T c.(709-711)Cgc>Tgc p.R237C NM_001004457.1 NP_001004457.1 Q8NGR9 OR1N2_HUMAN olfactory receptor, family 1, subfamily N, member 2 237 NA R -> C (in dbSNP:rs41316976). integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3) 26 CTCCTATGTCCGCATTTTCTG 0.517 NA C||| 367 0.0732827 0.0159 0.0144 5008 , , NA 23213 0.2827 NA 0.0109 False NA ,,, NA NA NA 2504 0.0409 NA NA NA NA 0 C CYS/ARG 58,4348 55.5+/-91.7 1,56,2146 253 239 244 709 2.7 0 9 dbSNP_127 244 110,8490 58.7+/-120.3 2,106,4192 yes missense OR1N2 NM_001004457.1 180 3,162,6338 TT,TC,CC 1.2791,1.3164,1.2917 benign 237/331 125316157 168,12838 2203 4300 6503 SO:0001583 missense CCDS35123.1 9q33.2 2013-09-20 ENSG00000171501 ENSG00000171501 138882 GPCR / Class A : Olfactory receptors 15111 protein-coding gene gene with protein product NA Standard NM_001004457 NA Approved uc011lyx.2 Q8NGR9 OTTHUMG00000020607 ENST00000373688.2:c.709C>T chr9.hg19:g.125316157C>T ENSP00000362792:p.Arg237Cys NA A3KFM2|B2RNY4|Q6IF17|Q96RA3 hg19 CCDS35123.1 0.02 15.691582 GTCxGCA COVERED 219 0.10027472527472528 14 0.028455284552845527 5 0.013812154696132596 194 0.33916083916083917 6 0.0079155672823219 C 5.153 0.213812 0.09810 0.013164 0.012791 ENSG00000171501 ENST00000373688 T 0.00099 8.73 4.56 2.69 0.31865 GPCR, rhodopsin-like superfamily (1); 0.976894 0.08366 N 0.956924 T 0.00012 0.0000 N 0.26042 0.785 0.80722 P 0.0 B 0.19935 0.04 B 0.20184 0.028 T 0.02070 -1.1219 9 0.45353 T 0.12 . 7.6122 0.28137 0.0:0.7127:0.0:0.2873 rs41316976;rs58042854 237 Q8NGR9 OR1N2_HUMAN C 237 ENSP00000362792:R237C ENSP00000362792:R237C R + 1 0 OR1N2 124355978 0.000000 0.05858 0.005000 0.12908 0.989000 0.77384 -0.481000 0.06552 0.542000 0.28846 0.644000 0.83932 CGC NOVEL OR1N2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053937.2 3 9.029096 KEEP 0 0 0 30 1033 CC 0.999997 0.999997 0 + 27 60 966 0 0 67.259228 352 60 12178 483 ENST00000373688.2 0.07124 1 OR1N2 138882 __UNKNOWN__ __UNKNOWN__ 9 125316179 125316179 __UNKNOWN__ Missense_Mutation SNP T T G rs1341044 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:125316179T>G ENST00000373688.2 + 1 789 c.731T>G c.(730-732)gTc>gGc p.V244G NM_001004457.1 NP_001004457.1 Q8NGR9 OR1N2_HUMAN olfactory receptor, family 1, subfamily N, member 2 244 NA V -> G (in dbSNP:rs1341044). {ECO:0000269|PubMed:15489334}. integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3) 26 GCTGTGTTTGTCATCTCATCT 0.498 NA G||| 4192 0.837061 0.8593 0.7752 5008 , , NA 22970 0.997 NA 0.7117 False NA ,,, NA NA NA 2504 0.8149 NA NA NA NA 0 G GLY/VAL 3714,692 288.9+/-280.1 1552,610,41 254 245 248 731 3.7 0 9 dbSNP_88 248 6042,2558 416.8+/-352.2 2092,1858,350 yes missense OR1N2 NM_001004457.1 109 3644,2468,391 GG,GT,TT 29.7442,15.7059,24.9885 benign 244/331 125316179 9756,3250 2203 4300 6503 SO:0001583 missense CCDS35123.1 9q33.2 2013-09-20 ENSG00000171501 ENSG00000171501 138882 GPCR / Class A : Olfactory receptors 15111 protein-coding gene gene with protein product NA Standard NM_001004457 NA Approved uc011lyx.2 Q8NGR9 OTTHUMG00000020607 ENST00000373688.2:c.731T>G chr9.hg19:g.125316179T>G ENSP00000362792:p.Val244Gly NA A3KFM2|B2RNY4|Q6IF17|Q96RA3 hg19 CCDS35123.1 0.02 16.665707 TTGxCAT COVERED 1785 0.8173076923076923 416 0.8455284552845529 275 0.7596685082872928 571 0.9982517482517482 523 0.6899736147757256 G 8.111 0.778783 0.16120 0.842941 0.702558 ENSG00000171501 ENST00000373688 T 0.00058 8.79 4.56 3.65 0.41850 GPCR, rhodopsin-like superfamily (1); 2.032560 0.02536 N 0.094177 T 0.00012 0.0000 N 0.00661 -1.28 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.44877 -0.9299 9 0.21014 T 0.42 . 5.9984 0.19507 0.1675:0.0:0.6776:0.1549 rs1341044;rs52789903;rs60788435;rs1341044 244 Q8NGR9 OR1N2_HUMAN G 244 ENSP00000362792:V244G ENSP00000362792:V244G V + 2 0 OR1N2 124356000 0.000000 0.05858 0.011000 0.14972 0.803000 0.45373 -0.440000 0.06888 0.551000 0.29008 -0.132000 0.14878 GTC NOVEL OR1N2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053937.2 0 6.253717 KEEP 0 1 38 34 1065 TT 0.999999 0.999999 0 + 23 60 852 0 0 58.148533 370 60 13216 498 ENST00000373688.2 0.058524 1 OR1N2 138882 __UNKNOWN__ __UNKNOWN__ 9 125316455 125316455 __UNKNOWN__ 3'UTR SNP C C T rs7039436 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:125316455C>T ENST00000373688.2 + 0 1065 NM_001004457.1 NP_001004457.1 Q8NGR9 OR1N2_HUMAN olfactory receptor, family 1, subfamily N, member 2 NA NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3) 26 GACATCTAGACGGTGATGTCT 0.393 NA C||| 2148 0.428914 0.3464 0.3919 5008 , , NA 20014 0.7976 NA 0.2475 False NA ,,, NA NA NA 2504 0.3732 NA NA NA NA 0 C 1519,2875 436.6+/-344.7 263,993,941 55 58 57 -4.2 0 9 dbSNP_116 57 2109,6491 348.4+/-327.0 267,1575,2458 no near-gene-3 530,2568,3399 TT,TC,CC 24.5233,34.5699,27.9206 125316455 3628,9366 2197 4300 6497 SO:0001624 3_prime_UTR_variant CCDS35123.1 9q33.2 2013-09-20 ENSG00000171501 ENSG00000171501 138882 GPCR / Class A : Olfactory receptors 15111 protein-coding gene gene with protein product NA Standard NM_001004457 NA Approved uc011lyx.2 Q8NGR9 OTTHUMG00000020607 ENST00000373688.2:c.*14C>T chr9.hg19:g.125316455C>T NA A3KFM2|B2RNY4|Q6IF17|Q96RA3 hg19 CCDS35123.1 0.02 15.541285 AGAxGGT COVERED NOVEL OR1N2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053937.2 0 12.639819 KEEP 0 0 0 42 1439 CC 1 1 0 + 20 60 680 0 0 43.610485 376 60 13250 520 ENST00000373688.2 0.050505 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 125317424 125317424 __UNKNOWN__ IGR SNP G G T rs10733658 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:125317424G>T NA NA OR1N2 (931 upstream) : OR1L8 (12353 downstream) NA NA NA AAAAAATGTTGCAGTGATAAC 0.338 NA T||| 3598 0.71845 0.708 0.6441 5008 , , NA 19131 0.9841 NA 0.6143 False NA ,,, NA NA NA 2504 0.6186 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.125317424G>T NA hg19 0.02 8.833263 GTTxCAG COVERED NOVEL 0 0 9.932833 KEEP 0 0 0 33 1201 GG 0.999998 0.999998 0 10 60 370 0 0 23.913239 220 60 8619 329 0.043478 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 125317485 125317485 __UNKNOWN__ IGR SNP G G T rs10760239 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:125317485G>T NA NA OR1N2 (992 upstream) : OR1L8 (12292 downstream) NA NA NA AAGTTCATCCGGGGCCAAATT 0.373 NA T||| 3583 0.715455 0.6982 0.6412 5008 , , NA 18780 0.9841 NA 0.6143 False NA ,,, NA NA NA 2504 0.6186 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.125317485G>T NA hg19 0.02 9.218395 TCCxGGG COVERED NOVEL 0 1 9.932061 KEEP 0 0 0 33 1139 GG 0.999998 0.999998 0 13 60 485 0 0 32.687652 230 60 8260 336 0.053498 1 OR1L8 138881 __UNKNOWN__ __UNKNOWN__ 9 125330184 125330184 __UNKNOWN__ Silent SNP A A C rs10985702 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:125330184A>C ENST00000304865.2 - 1 654 c.573T>G c.(571-573)tcT>tcG p.S191S NM_001004454.1 NP_001004454.1 Q8NGR8 OR1L8_HUMAN olfactory receptor, family 1, subfamily L, member 8 191 NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 CAAATATGGAAGAGCAGGACA 0.433 NA A||| 2409 0.48103 0.4508 0.4135 5008 , , NA 25550 0.8056 NA 0.3221 False NA ,,, NA NA NA 2504 0.3988 NA NA NA NA 0 A 1937,2469 549.7+/-377.9 430,1077,696 96 84 88 573 -6.1 0 9 dbSNP_120 88 2615,5985 423.7+/-354.4 394,1827,2079 no coding-synonymous OR1L8 NM_001004454.1 824,2904,2775 CC,CA,AA 30.407,43.9628,34.9992 191/310 125330184 4552,8454 2203 4300 6503 SO:0001819 synonymous_variant CCDS35124.1 9q33.2 2013-09-20 ENSG00000171496 ENSG00000171496 138881 GPCR / Class A : Olfactory receptors 15110 protein-coding gene gene with protein product NA Standard NM_001004454 NA Approved uc004bmp.1 Q8NGR8 OTTHUMG00000020609 ENST00000304865.2:c.573T>G chr9.hg19:g.125330184A>C NA A3KFM3|B9EIR6|Q6IF15|Q96R79 hg19 CCDS35124.1 0.02 13.713649 GGAxGAG COVERED NOVEL OR1L8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053939.1 0 4.146616 KEEP 0 1 32 25 809 AA 0.999957 0.999957 0 - 18 60 659 0 0 44.137057 313 60 11394 410 ENST00000304865.2 0.054381 1 OR1L8 138881 __UNKNOWN__ __UNKNOWN__ 9 125330678 125330678 __UNKNOWN__ Missense_Mutation SNP T T G rs10985704 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:125330678T>G ENST00000304865.2 - 1 160 c.79A>C c.(79-81)Aca>Cca p.T27P NM_001004454.1 NP_001004454.1 Q8NGR8 OR1L8_HUMAN olfactory receptor, family 1, subfamily L, member 8 27 NA T -> P (in dbSNP:rs10985704). integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 ACAAAGAGTGTCTTTTGGTCC 0.507 NA G||| 3331 0.665136 0.5991 0.6225 5008 , , NA 19581 0.9792 NA 0.5477 False NA ,,, NA NA NA 2504 0.5818 NA NA NA NA 0 G PRO/THR 2592,1814 532.3+/-373.4 758,1076,369 121 139 133 79 3.5 0.7 9 dbSNP_120 133 4819,3781 535.8+/-382.9 1317,2185,798 yes missense OR1L8 NM_001004454.1 38 2075,3261,1167 GG,GT,TT 43.9651,41.1711,43.0186 benign 27/310 125330678 7411,5595 2203 4300 6503 SO:0001583 missense CCDS35124.1 9q33.2 2013-09-20 ENSG00000171496 ENSG00000171496 138881 GPCR / Class A : Olfactory receptors 15110 protein-coding gene gene with protein product NA Standard NM_001004454 NA Approved uc004bmp.1 Q8NGR8 OTTHUMG00000020609 ENST00000304865.2:c.79A>C chr9.hg19:g.125330678T>G ENSP00000306607:p.Thr27Pro NA A3KFM3|B9EIR6|Q6IF15|Q96R79 hg19 CCDS35124.1 0.02 11.757478 GTGxCTT COVERED 1485 0.679945054945055 294 0.5975609756097561 227 0.6270718232044199 564 0.986013986013986 400 0.5277044854881267 G 9.033 0.987675 0.18966 0.588289 0.560349 ENSG00000171496 ENST00000304865 T 0.00438 7.42 4.39 3.48 0.39840 . 0.327705 0.22065 N 0.065106 T 0.00012 0.0000 N 0.00517 -1.405 0.58432 P 1.999999999946489E-6 B 0.02656 0.0 B 0.01281 0.0 T 0.50898 -0.8773 9 0.29301 T 0.29 -8.0918 12.5128 0.56015 0.0:0.0:0.6956:0.3044 rs10985704;rs17278713;rs52816957;rs60721400;rs10985704 27 Q8NGR8 OR1L8_HUMAN P 27 ENSP00000306607:T27P ENSP00000306607:T27P T - 1 0 OR1L8 124370499 0.000000 0.05858 0.733000 0.30861 0.806000 0.45545 -0.663000 0.05299 0.618000 0.30179 -0.386000 0.06593 ACA NOVEL OR1L8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053939.1 1 6.013337 KEEP 0 0 0 20 581 TT 0.999863 0.999863 0 - 14 60 505 0 0 33.650085 246 60 8584 315 ENST00000304865.2 0.053846 1 OR1L8 138881 __UNKNOWN__ __UNKNOWN__ 9 125330739 125330739 __UNKNOWN__ Silent SNP G G A rs1999182 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:125330739G>A ENST00000304865.2 - 1 99 c.18C>T c.(16-18)caC>caT p.H6H NM_001004454.1 NP_001004454.1 Q8NGR8 OR1L8_HUMAN olfactory receptor, family 1, subfamily L, member 8 6 NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 CACTGCTGGTGTGGTTGATTC 0.453 NA G||| 3167 0.632388 0.4811 0.6124 5008 , , NA 20598 0.9792 NA 0.5467 False NA ,,, NA NA NA 2504 0.5818 NA NA NA NA 0 G 2182,2224 585.1+/-386.2 544,1094,565 118 145 136 18 -0.1 0.9 9 dbSNP_92 136 4813,3787 614.2+/-396.2 1313,2187,800 yes coding-synonymous OR1L8 NM_001004454.1 1857,3281,1365 AA,AG,GG 44.0349,49.5234,46.2171 6/310 125330739 6995,6011 2203 4300 6503 SO:0001819 synonymous_variant CCDS35124.1 9q33.2 2013-09-20 ENSG00000171496 ENSG00000171496 138881 GPCR / Class A : Olfactory receptors 15110 protein-coding gene gene with protein product NA Standard NM_001004454 NA Approved uc004bmp.1 Q8NGR8 OTTHUMG00000020609 ENST00000304865.2:c.18C>T chr9.hg19:g.125330739G>A NA A3KFM3|B9EIR6|Q6IF15|Q96R79 hg19 CCDS35124.1 0.02 11.042795 GGTxTGG COVERED NOVEL OR1L8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053939.1 2 9.630368 KEEP 0 0 0 32 1099 GG 0.999997 0.999997 0 - 18 60 631 0 0 42.569768 277 60 10216 386 ENST00000304865.2 0.061017 1 RC3H2 54542 __UNKNOWN__ __UNKNOWN__ 9 125607011 125607011 __UNKNOWN__ 3'UTR SNP T T C rs12981 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:125607011T>C ENST00000373670.1 - 0 9071 Q9HBD1 RC3H2_HUMAN ring finger and CCCH-type domains 2 NA NA B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470) cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634) DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 33 ATTCACTCTTTGCTATTCACT 0.403 NA T||| 1669 0.333267 0.4054 0.3703 5008 , , NA 17152 0.6409 NA 0.1352 False NA ,,, NA NA NA 2504 0.0961 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK000308 CCDS43874.1, CCDS48014.1 9q34 2013-01-18 2010-09-15 2007-02-06 ENSG00000056586 ENSG00000056586 54542 RING-type (C3HC4) zinc fingers, Zinc fingers, CCCH-type domain containing 21461 protein-coding gene gene with protein product 615231 membrane associated DNA binding protein, ring finger and CCCH-type zinc finger domains 2 MNAB NA 10938276 Standard NM_018835 NM_001100588 NA Approved FLJ20301, FLJ20713, RNF164 uc010mwc.1 Q9HBD1 OTTHUMG00000020632 ENST00000373670.1:c.*4895A>G chr9.hg19:g.125607011T>C NA Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1 hg19 CCDS43874.1 0.02 6.940494 CTTxGCT COVERED NOVEL RC3H2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053966.1 0 13.235607 KEEP 0 0 0 44 1320 TT 1 1 0 - 12 60 403 0 0 27.038907 173 60 6384 278 ENST00000373670.1 0.064865 1 RC3H2 54542 __UNKNOWN__ __UNKNOWN__ 9 125652757 125652757 __UNKNOWN__ Silent SNP G G A rs10818759 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:125652757G>A ENST00000373670.1 - 3 1017 c.417C>T c.(415-417)aaC>aaT p.N139N RC3H2_ENST00000335387.5_Silent_p.N139N|RC3H2_ENST00000478216.1_5'UTR|RC3H2_ENST00000423239.2_Silent_p.N139N|RC3H2_ENST00000373665.2_Silent_p.N139N|RC3H2_ENST00000357244.2_Silent_p.N139N|RC3H2_ENST00000471874.2_Silent_p.N139N Q9HBD1 RC3H2_HUMAN ring finger and CCCH-type domains 2 139 NA B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470) cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634) DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 33 CCAGTTGACAGTTTACAAGTG 0.473 NA G||| 1630 0.325479 0.3903 0.3617 5008 , , NA 17647 0.6419 NA 0.1233 False NA ,,, NA NA NA 2504 0.0941 NA NA NA NA 0 G , 1180,2702 178,824,939 99 99 99 417,417 1.2 1 9 dbSNP_120 99 925,7385 46,833,3276 no coding-synonymous,coding-synonymous RC3H2 NM_001100588.1,NM_018835.2 , 224,1657,4215 AA,AG,GG 11.1312,30.3967,17.2654 , 139/1192,139/1065 125652757 2105,10087 1941 4155 6096 SO:0001819 synonymous_variant AK000308 CCDS43874.1, CCDS48014.1 9q34 2013-01-18 2010-09-15 2007-02-06 ENSG00000056586 ENSG00000056586 54542 RING-type (C3HC4) zinc fingers, Zinc fingers, CCCH-type domain containing 21461 protein-coding gene gene with protein product 615231 membrane associated DNA binding protein, ring finger and CCCH-type zinc finger domains 2 MNAB NA 10938276 Standard NM_018835 NM_001100588 NA Approved FLJ20301, FLJ20713, RNF164 uc010mwc.1 Q9HBD1 OTTHUMG00000020632 ENST00000373670.1:c.417C>T chr9.hg19:g.125652757G>A NA Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1 hg19 CCDS43874.1 0.02 15.392038 ACAxTTT COVERED NOVEL RC3H2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053966.1 2 30.397904 KEEP 0 0 0 101 3634 GG 1 1 0 - 23 60 807 0 0 54.68038 333 60 12741 582 ENST00000373670.1 0.064607 1 RC3H2 54542 __UNKNOWN__ __UNKNOWN__ 9 125660069 125660069 __UNKNOWN__ 5'UTR SNP A A G rs4292762 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:125660069A>G ENST00000373670.1 - 0 320 RC3H2_ENST00000335387.5_Intron|RC3H2_ENST00000478216.1_Intron|RC3H2_ENST00000423239.2_Intron|RC3H2_ENST00000373665.2_Intron|RC3H2_ENST00000357244.2_Intron Q9HBD1 RC3H2_HUMAN ring finger and CCCH-type domains 2 NA NA B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470) cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634) DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 33 CCTTTCAACTAAACTGTATTT 0.289 NA A||| 1688 0.337061 0.4183 0.3674 5008 , , NA 18607 0.6429 NA 0.1372 False NA ,,, NA NA NA 2504 0.0961 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AK000308 CCDS43874.1, CCDS48014.1 9q34 2013-01-18 2010-09-15 2007-02-06 ENSG00000056586 ENSG00000056586 54542 RING-type (C3HC4) zinc fingers, Zinc fingers, CCCH-type domain containing 21461 protein-coding gene gene with protein product 615231 membrane associated DNA binding protein, ring finger and CCCH-type zinc finger domains 2 MNAB NA 10938276 Standard NM_018835 NM_001100588 NA Approved FLJ20301, FLJ20713, RNF164 uc010mwc.1 Q9HBD1 OTTHUMG00000020632 ENST00000373670.1:c.-281T>C chr9.hg19:g.125660069A>G NA Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1 hg19 CCDS43874.1 0.02 7.617813 ACTxAAC COVERED NOVEL RC3H2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053966.1 1 11.673319 KEEP 0 0 0 39 1202 AA 1 1 0 - 16 60 627 0 0 47.051734 160 60 5784 250 ENST00000373670.1 0.090909 1 RABGAP1 23637 __UNKNOWN__ __UNKNOWN__ 9 125861741 125861741 __UNKNOWN__ Intron SNP A A C rs2302590 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:125861741A>C ENST00000373647.4 + 24 2951 RABGAP1_ENST00000373643.5_Intron NM_012197.3 NP_036329.3 Q9Y3P9 RBGP1_HUMAN RAB GTPase activating protein 1 NA NA cell cycle (GO:0007049)|positive regulation of GTPase activity (GO:0043547)|regulation of GTP catabolic process (GO:0033124) centrosome (GO:0005813)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875) DNA binding (GO:0003677)|GTPase activator activity (GO:0005096)|Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)|tubulin binding (GO:0015631) breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1) 41 TTGTTGTTTTATATTTGTTTC 0.348 NA A||| 791 0.157947 0.0136 0.2363 5008 , , NA 21528 0.5288 NA 0.0477 False NA ,,, NA NA NA 2504 0.0286 NA NA NA NA 0 A 90,4316 75.2+/-113.4 0,90,2113 108 109 109 -3.5 0 9 dbSNP_100 109 283,8317 104.6+/-165.6 2,279,4019 no intron RABGAP1 NM_012197.3 2,369,6132 CC,CA,AA 3.2907,2.0427,2.8679 125861741 373,12633 2203 4300 6503 SO:0001627 intron_variant AJ011679 CCDS6848.2 9q34.11 2013-07-09 ENSG00000011454 ENSG00000011454 23637 17155 protein-coding gene gene with protein product rab6 GTPase activating protein (GAP and centrosome-associated), TBC1 domain family, member 11 615882 NA 10202141 Standard NM_012197 NM_012197 NA Approved GAPCenA, TBC1D11 uc011lzh.2 Q9Y3P9 OTTHUMG00000020633 ENST00000373647.4:c.2818-16A>C chr9.hg19:g.125861741A>C NA B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67 hg19 CCDS6848.2 0.02 2.425203 TTTxTAT COVERED NOVEL RABGAP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053976.3 0 6.319278 KEEP 0 0 0 21 663 AA 0.999869 0.970693 0 + 4 60 152 0 0 10.961644 49 60 1722 86 ENST00000373647.4 0.075472 0.97082 RABGAP1 23637 __UNKNOWN__ __UNKNOWN__ 9 125866104 125866104 __UNKNOWN__ 3'UTR SNP C C T rs79929554 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:125866104C>T ENST00000373647.4 + 0 3956 NM_012197.3 NP_036329.3 Q9Y3P9 RBGP1_HUMAN RAB GTPase activating protein 1 NA NA cell cycle (GO:0007049)|positive regulation of GTPase activity (GO:0043547)|regulation of GTP catabolic process (GO:0033124) centrosome (GO:0005813)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875) DNA binding (GO:0003677)|GTPase activator activity (GO:0005096)|Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)|tubulin binding (GO:0015631) breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1) 41 ATTCATGTTTCTGATCAATTC 0.413 NA C||| 67 0.0133786 0.0 0.0 5008 , , NA 8866 0.0625 NA 0.004 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ011679 CCDS6848.2 9q34.11 2013-07-09 ENSG00000011454 ENSG00000011454 23637 17155 protein-coding gene gene with protein product rab6 GTPase activating protein (GAP and centrosome-associated), TBC1 domain family, member 11 615882 NA 10202141 Standard NM_012197 NM_012197 NA Approved GAPCenA, TBC1D11 uc011lzh.2 Q9Y3P9 OTTHUMG00000020633 ENST00000373647.4:c.*612C>T chr9.hg19:g.125866104C>T NA B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67 hg19 CCDS6848.2 0.02 1.906932 TTTxTGA COVERED NOVEL RABGAP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053976.3 0 9.330608 KEEP 0 0 0 31 1107 CC 0.999997 0.999801 0 + 4 60 152 0 0 10.023451 85 60 3240 147 ENST00000373647.4 0.044944 0.999804 CRB2 286204 __UNKNOWN__ __UNKNOWN__ 9 126132919 126132919 __UNKNOWN__ Silent SNP G G A rs33984675 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:126132919G>A ENST00000373631.3 + 7 1588 c.1587G>A c.(1585-1587)gcG>gcA p.A529A CRB2_ENST00000359999.3_Silent_p.A529A|CRB2_ENST00000373629.2_Silent_p.A197A NM_173689.5 NP_775960.4 Q5IJ48 CRUM2_HUMAN crumbs family member 2 529 Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}. NA cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234) calcium ion binding (GO:0005509)|enzyme binding (GO:0019899) NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3) 23 TCCATCTAGCGACCCTGGAGC 0.642 NA G||| 990 0.197684 0.059 0.1758 5008 , , NA 19807 0.252 NA 0.2753 False NA ,,, NA NA NA 2504 0.2648 NA NA NA NA 0 G 383,4023 192.3+/-217.7 17,349,1837 72 66 68 1587 3 0.5 9 dbSNP_126 68 2696,5904 430.3+/-356.5 430,1836,2034 no coding-synonymous CRB2 NM_173689.5 447,2185,3871 AA,AG,GG 31.3488,8.6927,23.6737 529/1286 126132919 3079,9927 2203 4300 6503 SO:0001819 synonymous_variant AK095783 CCDS6852.2 9q33.2 2014-02-06 2014-02-06 ENSG00000148204 ENSG00000148204 286204 18688 protein-coding gene gene with protein product 609720 crumbs homolog 2 (Drosophila) NA 14767562 Standard NM_173689 XM_005251934 NA Approved FLJ38464, FLJ16786 uc004bnx.1 Q5IJ48 OTTHUMG00000020638 ENST00000373631.3:c.1587G>A chr9.hg19:g.126132919G>A NA A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6 hg19 CCDS6852.2 0.02 5.953765 AGCxACC COVERED NOVEL CRB2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053990.3 1 12.639958 KEEP 0 0 0 42 1396 GG 1 1 0 + 7 60 242 0 0 15.045613 154 60 5269 239 ENST00000373631.3 0.043478 1 CRB2 286204 __UNKNOWN__ __UNKNOWN__ 9 126133497 126133497 __UNKNOWN__ Silent SNP C C T rs13290763 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:126133497C>T ENST00000373631.3 + 8 2077 c.2076C>T c.(2074-2076)tcC>tcT p.S692S CRB2_ENST00000359999.3_Silent_p.S692S|CRB2_ENST00000373629.2_Silent_p.S360S NM_173689.5 NP_775960.4 Q5IJ48 CRUM2_HUMAN crumbs family member 2 692 Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}. NA cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234) calcium ion binding (GO:0005509)|enzyme binding (GO:0019899) NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3) 23 CCAATGACTCCGCAGCTGGCC 0.617 NA C||| 981 0.195887 0.053 0.1729 5008 , , NA 20100 0.254 NA 0.2734 False NA ,,, NA NA NA 2504 0.2658 NA NA NA NA 0 C 373,4033 16,341,1846 129 138 135 2076 -9.1 0 9 dbSNP_121 135 2696,5904 427,1842,2031 no coding-synonymous CRB2 NM_173689.5 443,2183,3877 TT,TC,CC 31.3488,8.4657,23.5968 692/1286 126133497 3069,9937 2203 4300 6503 SO:0001819 synonymous_variant AK095783 CCDS6852.2 9q33.2 2014-02-06 2014-02-06 ENSG00000148204 ENSG00000148204 286204 18688 protein-coding gene gene with protein product 609720 crumbs homolog 2 (Drosophila) NA 14767562 Standard NM_173689 XM_005251934 NA Approved FLJ38464, FLJ16786 uc004bnx.1 Q5IJ48 OTTHUMG00000020638 ENST00000373631.3:c.2076C>T chr9.hg19:g.126133497C>T NA A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6 hg19 CCDS6852.2 0.02 13.55681 CTCxGCA COVERED NOVEL CRB2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053990.3 3 15.348562 KEEP 0 0 0 51 1736 CC 1 1 0 + 9 60 349 0 0 21.036492 341 60 11788 475 ENST00000373631.3 0.025714 1 CRB2 286204 __UNKNOWN__ __UNKNOWN__ 9 126137676 126137676 __UNKNOWN__ Intron SNP G G A rs4838053 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:126137676G>A ENST00000373631.3 + 12 3634 CRB2_ENST00000373629.2_Intron NM_173689.5 NP_775960.4 Q5IJ48 CRUM2_HUMAN crumbs family member 2 NA NA cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234) calcium ion binding (GO:0005509)|enzyme binding (GO:0019899) NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3) 23 GGCCCTTGGCGAGATGCTGCT 0.632 NA G||| 1265 0.252596 0.1604 0.2147 5008 , , NA 16616 0.4127 NA 0.1392 False NA ,,, NA NA NA 2504 0.3558 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK095783 CCDS6852.2 9q33.2 2014-02-06 2014-02-06 ENSG00000148204 ENSG00000148204 286204 18688 protein-coding gene gene with protein product 609720 crumbs homolog 2 (Drosophila) NA 14767562 Standard NM_173689 XM_005251934 NA Approved FLJ38464, FLJ16786 uc004bnx.1 Q5IJ48 OTTHUMG00000020638 ENST00000373631.3:c.3633+54G>A chr9.hg19:g.126137676G>A NA A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6 hg19 CCDS6852.2 0.02 1.716223 GGCxAGA COVERED NOVEL CRB2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000053990.3 0 7.223168 KEEP 0 0 0 24 821 GG 0.999909 0.999677 0 + 4 60 142 0 0 9.045216 84 60 3102 141 ENST00000373631.3 0.045455 0.999768 DENND1A 57706 __UNKNOWN__ __UNKNOWN__ 9 126142233 126142233 __UNKNOWN__ 3'UTR SNP C C A rs1048616 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:126142233C>A ENST00000373624.2 - 0 4709 DENND1A_ENST00000473039.1_5'UTR NM_020946.1 NP_065997.1 Q8TEH3 DEN1A_HUMAN DENN/MADD domain containing 1A NA NA endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|regulation of Rab protein signal transduction (GO:0032483)|synaptic vesicle endocytosis (GO:0048488) cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202) Rab guanyl-nucleotide exchange factor activity (GO:0017112) breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 GCTCCCCCAGCAGCCAGAGCC 0.632 NA C||| 710 0.141773 0.0446 0.0865 5008 , , NA 17490 0.2887 NA 0.1223 False NA ,,, NA NA NA 2504 0.181 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB046828 CCDS35133.1, CCDS35134.1 9q34.11 2012-10-03 2005-08-17 2005-08-17 ENSG00000119522 ENSG00000119522 57706 DENN/MADD domain containing 29324 protein-coding gene gene with protein product 613633 KIAA1608 KIAA1608 NA 10997877 Standard NM_024820 XM_005252109 NA Approved FLJ21129, FAM31A uc004bnz.1 Q8TEH3 OTTHUMG00000020643 ENST00000373624.2:c.*1478G>T chr9.hg19:g.126142233C>A NA A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796 hg19 CCDS35133.1 0.02 8.070431 CAGxAGC COVERED NOVEL DENND1A-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000053997.1 3 9.330492 KEEP 0 0 0 31 1116 CC 0.999997 0.999997 0 - 7 60 250 0 0 14.807614 218 60 8223 331 ENST00000373624.2 0.031111 1 DENND1A 57706 __UNKNOWN__ __UNKNOWN__ 9 126176469 126176469 __UNKNOWN__ Intron SNP C C G rs10986013 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:126176469C>G ENST00000373624.2 - 20 1690 DENND1A_ENST00000373620.3_Intron|DENND1A_ENST00000373618.1_3'UTR|DENND1A_ENST00000394219.3_Intron|DENND1A_ENST00000542603.1_Intron|DENND1A_ENST00000473039.1_Intron|DENND1A_ENST00000394215.2_Intron NM_020946.1 NP_065997.1 Q8TEH3 DEN1A_HUMAN DENN/MADD domain containing 1A NA NA endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|regulation of Rab protein signal transduction (GO:0032483)|synaptic vesicle endocytosis (GO:0048488) cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202) Rab guanyl-nucleotide exchange factor activity (GO:0017112) breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 ccattccaagccttactgtcc 0.517 NA C||| 494 0.0986422 0.0703 0.0648 5008 , , NA 20510 0.1915 NA 0.0517 False NA ,,, NA NA NA 2504 0.1135 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB046828 CCDS35133.1, CCDS35134.1 9q34.11 2012-10-03 2005-08-17 2005-08-17 ENSG00000119522 ENSG00000119522 57706 DENN/MADD domain containing 29324 protein-coding gene gene with protein product 613633 KIAA1608 KIAA1608 NA 10997877 Standard NM_024820 XM_005252109 NA Approved FLJ21129, FAM31A uc004bnz.1 Q8TEH3 OTTHUMG00000020643 ENST00000373624.2:c.1489-10700G>C chr9.hg19:g.126176469C>G NA A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796 hg19 CCDS35133.1 0.02 8.585125 AAGxCTT COVERED NOVEL DENND1A-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000053997.1 3 10.534064 KEEP 0 0 0 35 1236 CC 0.999999 0.999999 0 - 9 60 333 0 0 20.820146 238 60 8642 340 ENST00000373624.2 0.036437 1 DENND1A 57706 __UNKNOWN__ __UNKNOWN__ 9 126219583 126219583 __UNKNOWN__ Intron SNP G G A rs117597047 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:126219583G>A ENST00000373624.2 - 15 1388 DENND1A_ENST00000373620.3_Intron|DENND1A_ENST00000373618.1_Intron|DENND1A_ENST00000394219.3_Intron|DENND1A_ENST00000542603.1_Intron|DENND1A_ENST00000473039.1_Intron|DENND1A_ENST00000394215.2_Intron NM_020946.1 NP_065997.1 Q8TEH3 DEN1A_HUMAN DENN/MADD domain containing 1A NA NA endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|regulation of Rab protein signal transduction (GO:0032483)|synaptic vesicle endocytosis (GO:0048488) cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202) Rab guanyl-nucleotide exchange factor activity (GO:0017112) breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 TGCCCTAAATGATAGCAGCCT 0.468 NA G||| 59 0.0117812 0.0 0.0014 5008 , , NA 19740 0.0516 NA 0.004 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 G , 4,4402 6.2+/-15.9 0,4,2199 82 80 81 , -2.8 0 9 dbSNP_132 81 2,8598 2.2+/-6.3 0,2,4298 no intron,intron DENND1A NM_020946.1,NM_024820.2 , 0,6,6497 AA,AG,GG 0.0233,0.0908,0.0461 , , 126219583 6,13000 2203 4300 6503 SO:0001627 intron_variant AB046828 CCDS35133.1, CCDS35134.1 9q34.11 2012-10-03 2005-08-17 2005-08-17 ENSG00000119522 ENSG00000119522 57706 DENN/MADD domain containing 29324 protein-coding gene gene with protein product 613633 KIAA1608 KIAA1608 NA 10997877 Standard NM_024820 XM_005252109 NA Approved FLJ21129, FAM31A uc004bnz.1 Q8TEH3 OTTHUMG00000020643 ENST00000373624.2:c.1186+43C>T chr9.hg19:g.126219583G>A NA A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796 hg19 CCDS35133.1 0.02 2.103286 AATxATA COVERED NOVEL DENND1A-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000053997.1 0 3.009526 KEEP 0 0 0 10 346 GG 0.992708 0.991708 0 - 4 60 139 0 0 8.962441 74 60 2811 96 ENST00000373624.2 0.051282 0.998993 GPR144 347088 __UNKNOWN__ __UNKNOWN__ 9 127214450 127214450 __UNKNOWN__ Intron SNP C C T rs75828435 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:127214450C>T ENST00000334810.1 + 2 124 Q7Z7M1 GP144_HUMAN G protein-coupled receptor 144 NA NA G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) central_nervous_system(1)|endometrium(3) 4 ATGAGGGATCCCCCCAGGGAG 0.572 NA C||| 314 0.0626997 0.0197 0.0144 5008 , , NA 11886 0.125 NA 0.0537 False NA ,,, NA NA NA 2504 0.1002 NA NA NA NA 0 29 35 33 NA NA 9 NA 127214450 692 1591 2283 SO:0001627 intron_variant AY278562 9q34.11 2014-08-08 ENSG00000180264 ENSG00000180264 347088 -, GPCR / Class B : Orphans 18651 protein-coding gene gene with protein product NA Standard NM_182611 XM_006710216 NA Approved PGR24 uc010mwn.3 Q7Z7M1 OTTHUMG00000020652 ENST00000334810.1:c.124+13C>T chr9.hg19:g.127214450C>T NA Q86SL4|Q8NH12 hg19 CCDS48016.1 0.02 3.796882 ATCxCCC COVERED NOVEL GPR144-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054026.2 1 7.215868 KEEP 0 0 0 24 813 CC 0.999909 0.999909 0 + 7 60 249 0 0 16.050029 139 60 4972 207 ENST00000334810.1 0.047945 1 GPR144 347088 __UNKNOWN__ __UNKNOWN__ 9 127215798 127215798 __UNKNOWN__ Silent SNP C C T rs78331506 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:127215798C>T ENST00000334810.1 + 4 822 c.822C>T c.(820-822)gaC>gaT p.D274D Q7Z7M1 GP144_HUMAN G protein-coupled receptor 144 274 Pentaxin. NA G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) central_nervous_system(1)|endometrium(3) 4 ACCTCACCGACTTCCACCTGT 0.741 NA C||| 449 0.0896565 0.0915 0.1167 5008 , , NA 6546 0.1994 NA 0.0 False NA ,,, NA NA NA 2504 0.047 NA NA NA NA 0 3 4 4 NA NA 9 NA 127215798 646 1490 2136 SO:0001819 synonymous_variant AY278562 9q34.11 2014-08-08 ENSG00000180264 ENSG00000180264 347088 -, GPCR / Class B : Orphans 18651 protein-coding gene gene with protein product NA Standard NM_182611 XM_006710216 NA Approved PGR24 uc010mwn.3 Q7Z7M1 OTTHUMG00000020652 ENST00000334810.1:c.822C>T chr9.hg19:g.127215798C>T NA Q86SL4|Q8NH12 hg19 CCDS48016.1 0.02 7.706914 CGAxTTC COVERED NOVEL GPR144-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054026.2 1 14.447595 KEEP 0 0 0 48 1737 CC 1 1 0 + 8 60 272 0 0 16.074726 214 60 7929 354 ENST00000334810.1 0.036036 1 GPR144 347088 __UNKNOWN__ __UNKNOWN__ 9 127220829 127220829 __UNKNOWN__ Intron SNP A A G rs7863866 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:127220829A>G ENST00000334810.1 + 10 1685 Q7Z7M1 GP144_HUMAN G protein-coupled receptor 144 NA NA G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) central_nervous_system(1)|endometrium(3) 4 GGCCTGGGTGACATGCCGCAG 0.587 NA A||| 1046 0.208866 0.4395 0.0447 5008 , , NA 18821 0.3026 NA 0.0119 False NA ,,, NA NA NA 2504 0.1196 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY278562 9q34.11 2014-08-08 ENSG00000180264 ENSG00000180264 347088 -, GPCR / Class B : Orphans 18651 protein-coding gene gene with protein product NA Standard NM_182611 XM_006710216 NA Approved PGR24 uc010mwn.3 Q7Z7M1 OTTHUMG00000020652 ENST00000334810.1:c.1686-66A>G chr9.hg19:g.127220829A>G NA Q86SL4|Q8NH12 hg19 CCDS48016.1 0.02 4.884342 GTGxCAT COVERED NOVEL GPR144-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054026.2 0 2.673652 KEEP 0 0 0 9 261 AA 0.99254 0.992536 0 + 5 60 197 0 0 13.196456 108 60 3687 132 ENST00000334810.1 0.044248 0.999996 GPR144 347088 __UNKNOWN__ __UNKNOWN__ 9 127220938 127220938 __UNKNOWN__ Missense_Mutation SNP G G C rs78597609 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:127220938G>C ENST00000334810.1 + 10 1729 c.1729G>C c.(1729-1731)Gtg>Ctg p.V577L Q7Z7M1 GP144_HUMAN G protein-coupled receptor 144 577 GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}. NA G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) central_nervous_system(1)|endometrium(3) 4 CTCCTCTGAAGTGTGGGACGT 0.607 NA G||| 300 0.0599042 0.0045 0.1081 5008 , , NA 19448 0.1786 NA 0.0 False NA ,,, NA NA NA 2504 0.0399 NA NA NA NA 0 G LEU/VAL 4,1380 0,4,688 102 100 101 1729 0.5 0.8 9 dbSNP_132 101 12,3170 0,12,1579 yes missense GPR144 NM_001161808.1 32 0,16,2267 CC,CG,GG 0.3771,0.289,0.3504 possibly-damaging 577/964 127220938 16,4550 692 1591 2283 SO:0001583 missense AY278562 9q34.11 2014-08-08 ENSG00000180264 ENSG00000180264 347088 -, GPCR / Class B : Orphans 18651 protein-coding gene gene with protein product NA Standard NM_182611 XM_006710216 NA Approved PGR24 uc010mwn.3 Q7Z7M1 OTTHUMG00000020652 ENST00000334810.1:c.1729G>C chr9.hg19:g.127220938G>C ENSP00000335156:p.Val577Leu NA Q86SL4|Q8NH12 hg19 CCDS48016.1 0.02 13.223718 GAAxTGT COVERED 151 0.06913919413919414 7 0.014227642276422764 29 0.08011049723756906 115 0.20104895104895104 0 0.0 G 12.44 1.938372 0.34189 0.00289 0.003771 ENSG00000180264 ENST00000334810;ENST00000439837 T 0.53206 0.63 5.08 0.505 0.16953 . . . . . T 0.00039 0.0001 L 0.41236 1.265 0.80722 P 0.0 B 0.33448 0.412 B 0.27887 0.084 T 0.09930 -1.0652 8 0.34782 T 0.22 . 5.4249 0.16419 0.0851:0.3669:0.4334:0.1147 . 577 Q7Z7M1 GP144_HUMAN L 577;308 ENSP00000335156:V577L ENSP00000335156:V577L V + 1 0 GPR144 126260759 0.001000 0.12720 0.829000 0.32907 0.731000 0.41821 -0.171000 0.09883 0.499000 0.27970 0.655000 0.94253 GTG NOVEL GPR144-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054026.2 0 13.243827 KEEP 0 0 0 44 1614 GG 1 1 0 + 9 60 334 0 0 19.763719 322 60 12118 474 ENST00000334810.1 0.02719 1 OLFML2A 169611 __UNKNOWN__ __UNKNOWN__ 9 127574029 127574029 __UNKNOWN__ 3'UTR SNP C C T rs2094374 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:127574029C>T ENST00000373580.3 + 0 3297 OLFML2A_ENST00000288815.5_3'UTR NM_182487.2 NP_872293.2 Q68BL7 OLM2A_HUMAN olfactomedin-like 2A NA NA extracellular matrix organization (GO:0030198) extracellular matrix (GO:0031012)|extracellular region (GO:0005576) extracellular matrix binding (GO:0050840) endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 25 CAGACCCACACAGCCCAGAGG 0.562 NA C||| 560 0.111821 0.028 0.2032 5008 , , NA 17471 0.2222 NA 0.0815 False NA ,,, NA NA NA 2504 0.0777 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK092255 CCDS6857.2, CCDS65129.1 9q34.11 2008-02-05 ENSG00000185585 ENSG00000185585 169611 27270 protein-coding gene gene with protein product 615899 NA 12477932 Standard NM_182487 NM_001282715 NA Approved FLJ00237 uc004bov.3 Q68BL7 OTTHUMG00000020663 ENST00000373580.3:c.*1338C>T chr9.hg19:g.127574029C>T NA Q5JTM5|Q5JTM6|Q6UXW1|Q7Z5V3 hg19 CCDS6857.2 0.02 4.168255 ACAxAGC COVERED NOVEL OLFML2A-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054046.2 2 11.134204 KEEP 0 0 0 37 1299 CC 1 1 0 + 13 60 465 0 0 33.54617 136 60 5161 229 ENST00000373580.3 0.087248 1 OLFML2A 169611 __UNKNOWN__ __UNKNOWN__ 9 127574786 127574786 __UNKNOWN__ 3'UTR SNP G G A rs78116342 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:127574786G>A ENST00000373580.3 + 0 4054 OLFML2A_ENST00000288815.5_3'UTR NM_182487.2 NP_872293.2 Q68BL7 OLM2A_HUMAN olfactomedin-like 2A NA NA extracellular matrix organization (GO:0030198) extracellular matrix (GO:0031012)|extracellular region (GO:0005576) extracellular matrix binding (GO:0050840) endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 25 GCATTGTCAGGTGCTGTTTTG 0.527 NA G||| 540 0.107827 0.0129 0.2017 5008 , , NA 19401 0.2222 NA 0.0795 False NA ,,, NA NA NA 2504 0.0808 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK092255 CCDS6857.2, CCDS65129.1 9q34.11 2008-02-05 ENSG00000185585 ENSG00000185585 169611 27270 protein-coding gene gene with protein product 615899 NA 12477932 Standard NM_182487 NM_001282715 NA Approved FLJ00237 uc004bov.3 Q68BL7 OTTHUMG00000020663 ENST00000373580.3:c.*2095G>A chr9.hg19:g.127574786G>A NA Q5JTM5|Q5JTM6|Q6UXW1|Q7Z5V3 hg19 CCDS6857.2 0.02 6.895544 CAGxTGC COVERED NOVEL OLFML2A-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054046.2 4 10.533844 KEEP 0 0 0 35 1237 GG 0.999999 0.999999 0 + 9 60 327 0 0 22.05996 147 60 5279 229 ENST00000373580.3 0.057692 1 OLFML2A 169611 __UNKNOWN__ __UNKNOWN__ 9 127575800 127575800 __UNKNOWN__ 3'UTR SNP G G A rs11788516 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:127575800G>A ENST00000373580.3 + 0 5068 OLFML2A_ENST00000288815.5_3'UTR NM_182487.2 NP_872293.2 Q68BL7 OLM2A_HUMAN olfactomedin-like 2A NA NA extracellular matrix organization (GO:0030198) extracellular matrix (GO:0031012)|extracellular region (GO:0005576) extracellular matrix binding (GO:0050840) endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 25 TGTTCCAGGCGCTGGTCAGTG 0.527 NA G||| 556 0.111022 0.0204 0.2017 5008 , , NA 19626 0.2282 NA 0.0795 False NA ,,, NA NA NA 2504 0.0808 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK092255 CCDS6857.2, CCDS65129.1 9q34.11 2008-02-05 ENSG00000185585 ENSG00000185585 169611 27270 protein-coding gene gene with protein product 615899 NA 12477932 Standard NM_182487 NM_001282715 NA Approved FLJ00237 uc004bov.3 Q68BL7 OTTHUMG00000020663 ENST00000373580.3:c.*3109G>A chr9.hg19:g.127575800G>A NA Q5JTM5|Q5JTM6|Q6UXW1|Q7Z5V3 hg19 CCDS6857.2 0.02 1.781654 GGCxCTG COVERED NOVEL OLFML2A-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054046.2 0 3.009366 KEEP 0 0 0 10 332 GG 0.992708 0.99259 0 + 4 60 147 0 0 9.467094 88 60 3014 122 ENST00000373580.3 0.043478 0.999881 OLFML2A 169611 __UNKNOWN__ __UNKNOWN__ 9 127575968 127575968 __UNKNOWN__ 3'UTR SNP G G A rs3739761 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:127575968G>A ENST00000373580.3 + 0 5236 OLFML2A_ENST00000288815.5_3'UTR NM_182487.2 NP_872293.2 Q68BL7 OLM2A_HUMAN olfactomedin-like 2A NA NA extracellular matrix organization (GO:0030198) extracellular matrix (GO:0031012)|extracellular region (GO:0005576) extracellular matrix binding (GO:0050840) endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 25 GATGCCTCCAGTCATATTTAG 0.428 NA G||| 546 0.109026 0.0129 0.2017 5008 , , NA 21050 0.2282 NA 0.0795 False NA ,,, NA NA NA 2504 0.0808 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK092255 CCDS6857.2, CCDS65129.1 9q34.11 2008-02-05 ENSG00000185585 ENSG00000185585 169611 27270 protein-coding gene gene with protein product 615899 NA 12477932 Standard NM_182487 NM_001282715 NA Approved FLJ00237 uc004bov.3 Q68BL7 OTTHUMG00000020663 ENST00000373580.3:c.*3277G>A chr9.hg19:g.127575968G>A NA Q5JTM5|Q5JTM6|Q6UXW1|Q7Z5V3 hg19 CCDS6857.2 0.02 1.989216 CCAxTCA COVERED NOVEL OLFML2A-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054046.2 1 6.62202 KEEP 0 0 0 22 825 GG 0.999879 0.99976 0 + 9 60 343 0 0 25.843873 82 60 3118 140 ENST00000373580.3 0.098901 0.999881 OLFML2A 169611 __UNKNOWN__ __UNKNOWN__ 9 127576742 127576742 __UNKNOWN__ 3'UTR SNP C C A rs77529495 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:127576742C>A ENST00000373580.3 + 0 6010 OLFML2A_ENST00000288815.5_3'UTR NM_182487.2 NP_872293.2 Q68BL7 OLM2A_HUMAN olfactomedin-like 2A NA NA extracellular matrix organization (GO:0030198) extracellular matrix (GO:0031012)|extracellular region (GO:0005576) extracellular matrix binding (GO:0050840) endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 25 aatccccccccaggagccccg 0.547 NA C||| 43 0.00858626 0.0 0.0 5008 , , NA 16985 0.0417 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK092255 CCDS6857.2, CCDS65129.1 9q34.11 2008-02-05 ENSG00000185585 ENSG00000185585 169611 27270 protein-coding gene gene with protein product 615899 NA 12477932 Standard NM_182487 NM_001282715 NA Approved FLJ00237 uc004bov.3 Q68BL7 OTTHUMG00000020663 ENST00000373580.3:c.*4051C>A chr9.hg19:g.127576742C>A NA Q5JTM5|Q5JTM6|Q6UXW1|Q7Z5V3 hg19 CCDS6857.2 0.02 6.125757 CCCxAGG COVERED NOVEL OLFML2A-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054046.2 7 12.640897 KEEP 0 0 0 42 1477 CC 1 1 0 + 7 60 256 0 0 16.401215 156 60 5822 246 ENST00000373580.3 0.042945 1 MAPKAP1 79109 __UNKNOWN__ __UNKNOWN__ 9 128199873 128199873 __UNKNOWN__ 3'UTR SNP C C T rs1129 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:128199873C>T ENST00000350766.3 - 0 3055 MAPKAP1_ENST00000373503.3_3'UTR|MAPKAP1_ENST00000394063.1_3'UTR|MAPKAP1_ENST00000373498.1_3'UTR|MAPKAP1_ENST00000265960.3_3'UTR|MAPKAP1_ENST00000373511.2_3'UTR NM_024117.3 NP_077022.1 Q9BPZ7 SIN1_HUMAN mitogen-activated protein kinase associated protein 1 NA NA epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of Ras protein signal transduction (GO:0046580)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|substantia nigra development (GO:0021762)|T cell costimulation (GO:0031295) cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886) phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein kinase binding (GO:0019901)|Ras GTPase binding (GO:0017016) endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3) 23 AAAGGACGCTCCTGTTGGCTG 0.363 NA C||| 1091 0.217851 0.0469 0.2378 5008 , , NA 17694 0.2312 NA 0.3469 False NA ,,, NA NA NA 2504 0.2883 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M37191 CCDS6864.1, CCDS35139.1, CCDS35140.1, CCDS35141.1, CCDS48020.1 9q34.11 2008-02-05 ENSG00000119487 ENSG00000119487 79109 18752 protein-coding gene gene with protein product stress-activated protein kinase-interacting 1 610558 NA 15363842 Standard NM_001006620 NA Approved MGC2745, SIN1, MIP1 uc004bpv.3 Q9BPZ7 OTTHUMG00000020683 ENST00000350766.3:c.*1293G>A chr9.hg19:g.128199873C>T NA A8K1Z5|B1AMA4|B7Z309|Q00426|Q5JSV5|Q5JSV6|Q5JSV9|Q658R0|Q699U1|Q699U2|Q699U3|Q699U4|Q6GVJ0|Q6GVJ1|Q6GVJ2 hg19 CCDS6864.1 0.02 3.651186 GCTxCTG COVERED NOVEL MAPKAP1-007 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000054090.1 1 7.809816 KEEP 0 0 0 26 911 CC 0.999957 0.999955 0 - 5 60 167 0 0 10.122357 112 60 4206 174 ENST00000350766.3 0.042735 0.999998 MAPKAP1 79109 __UNKNOWN__ __UNKNOWN__ 9 128200299 128200299 __UNKNOWN__ 3'UTR SNP C C G rs12202 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:128200299C>G ENST00000350766.3 - 0 2629 MAPKAP1_ENST00000373503.3_3'UTR|MAPKAP1_ENST00000394063.1_3'UTR|MAPKAP1_ENST00000373498.1_3'UTR|MAPKAP1_ENST00000265960.3_3'UTR|MAPKAP1_ENST00000373511.2_3'UTR NM_024117.3 NP_077022.1 Q9BPZ7 SIN1_HUMAN mitogen-activated protein kinase associated protein 1 NA NA epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of Ras protein signal transduction (GO:0046580)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|substantia nigra development (GO:0021762)|T cell costimulation (GO:0031295) cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886) phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein kinase binding (GO:0019901)|Ras GTPase binding (GO:0017016) endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3) 23 GGGAATGTGGCCCCTTCCAAG 0.542 NA C||| 1377 0.27496 0.1634 0.2651 5008 , , NA 21569 0.2321 NA 0.3917 False NA ,,, NA NA NA 2504 0.3569 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M37191 CCDS6864.1, CCDS35139.1, CCDS35140.1, CCDS35141.1, CCDS48020.1 9q34.11 2008-02-05 ENSG00000119487 ENSG00000119487 79109 18752 protein-coding gene gene with protein product stress-activated protein kinase-interacting 1 610558 NA 15363842 Standard NM_001006620 NA Approved MGC2745, SIN1, MIP1 uc004bpv.3 Q9BPZ7 OTTHUMG00000020683 ENST00000350766.3:c.*867G>C chr9.hg19:g.128200299C>G NA A8K1Z5|B1AMA4|B7Z309|Q00426|Q5JSV5|Q5JSV6|Q5JSV9|Q658R0|Q699U1|Q699U2|Q699U3|Q699U4|Q6GVJ0|Q6GVJ1|Q6GVJ2 hg19 CCDS6864.1 0.02 16.436074 TGGxCCC COVERED NOVEL MAPKAP1-007 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000054090.1 1 17.15549 KEEP 0 0 0 57 2026 CC 1 1 0 - 24 60 840 0 0 57.786575 327 60 11952 479 ENST00000350766.3 0.068376 1 PBX3 5090 __UNKNOWN__ __UNKNOWN__ 9 128724304 128724304 __UNKNOWN__ Intron SNP A A C rs888230 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:128724304A>C ENST00000373489.5 + 7 1025 PBX3_ENST00000373487.4_Intron|PBX3_ENST00000373483.2_Intron|PBX3_ENST00000538998.1_Intron|PBX3_ENST00000447726.2_Intron|PBX3_ENST00000342287.5_Intron NM_006195.5 NP_006186.1 P40426 PBX3_HUMAN pre-B-cell leukemia homeobox 3 NA NA adult locomotory behavior (GO:0008344)|anterior compartment pattern formation (GO:0007387)|dorsal spinal cord development (GO:0021516)|neuron development (GO:0048666)|posterior compartment specification (GO:0007388)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634)|transcription factor complex (GO:0005667) sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2) 24 ACTTTTTCTCATCTCCCTGCC 0.438 NA C||| 3236 0.646166 0.4047 0.7378 5008 , , NA 18579 0.7599 NA 0.6948 False NA ,,, NA NA NA 2504 0.7403 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS6865.1, CCDS48021.1 9q33.3 2011-06-20 2007-01-30 ENSG00000167081 ENSG00000167081 5090 Homeoboxes / TALE class 8634 protein-coding gene gene with protein product 176312 pre-B-cell leukemia transcription factor 3 NA 1682799 Standard NM_006195 NA Approved uc004bqb.3 P40426 OTTHUMG00000020684 ENST00000373489.5:c.1010-77A>C chr9.hg19:g.128724304A>C NA E9PB27|Q5JSA0|Q5JSA1|Q5VXL3|Q96PF9|Q96PG0 hg19 CCDS6865.1 0.02 4.270523 CTCxTCT COVERED NOVEL PBX3-006 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000417765.1 0 8.12497 KEEP 0 0 0 27 857 AA 0.999988 0.999987 0 + 7 60 253 0 0 16.927994 118 60 4343 187 ENST00000373489.5 0.056 1 PBX3 5090 __UNKNOWN__ __UNKNOWN__ 9 128728459 128728459 __UNKNOWN__ 3'UTR SNP A A G rs11792585 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:128728459A>G ENST00000373489.5 + 0 1578 PBX3_ENST00000373487.4_3'UTR|PBX3_ENST00000447726.2_3'UTR|PBX3_ENST00000342287.5_3'UTR NM_006195.5 NP_006186.1 P40426 PBX3_HUMAN pre-B-cell leukemia homeobox 3 NA NA adult locomotory behavior (GO:0008344)|anterior compartment pattern formation (GO:0007387)|dorsal spinal cord development (GO:0021516)|neuron development (GO:0048666)|posterior compartment specification (GO:0007388)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634)|transcription factor complex (GO:0005667) sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2) 24 TCCTGTAGCTATTTTATCATA 0.269 NA A||| 1439 0.28734 0.1316 0.3012 5008 , , NA 19110 0.4831 NA 0.2127 False NA ,,, NA NA NA 2504 0.363 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS6865.1, CCDS48021.1 9q33.3 2011-06-20 2007-01-30 ENSG00000167081 ENSG00000167081 5090 Homeoboxes / TALE class 8634 protein-coding gene gene with protein product 176312 pre-B-cell leukemia transcription factor 3 NA 1682799 Standard NM_006195 NA Approved uc004bqb.3 P40426 OTTHUMG00000020684 ENST00000373489.5:c.*257A>G chr9.hg19:g.128728459A>G NA E9PB27|Q5JSA0|Q5JSA1|Q5VXL3|Q96PF9|Q96PG0 hg19 CCDS6865.1 0.02 6.795774 GCTxTTT COVERED NOVEL PBX3-006 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000417765.1 2 5.050845 KEEP 0 1 38 30 935 AA 0.999997 0.999997 0 + 10 60 385 0 0 26.260782 180 60 6609 273 ENST00000373489.5 0.052632 1 MVB12B 89853 __UNKNOWN__ __UNKNOWN__ 9 129102840 129102840 __UNKNOWN__ Silent SNP G G A rs1888156 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:129102840G>A ENST00000361171.3 + 2 216 c.135G>A c.(133-135)acG>acA p.T45T MVB12B_ENST00000545391.1_Silent_p.T45T|MVB12B_ENST00000436593.3_Silent_p.T30T NM_033446.2 NP_258257.1 Q9H7P6 MB12B_HUMAN multivesicular body subunit 12B 45 NA protein transport (GO:0015031)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162) cytosol (GO:0005829)|early endosome (GO:0005769)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982) lipid binding (GO:0008289) NA TGCCAGAAACGTCAATGGATC 0.478 NA G||| 1577 0.314896 0.3858 0.3026 5008 , , NA 21217 0.2897 NA 0.2903 False NA ,,, NA NA NA 2504 0.2791 NA NA NA NA 0 G , 1566,2840 491.0+/-362.0 267,1032,904 107 100 103 135,135 -3 0 9 dbSNP_92 103 2762,5838 439.3+/-359.2 447,1868,1985 no coding-synonymous,coding-synonymous FAM125B NM_001011703.2,NM_033446.2 , 714,2900,2889 AA,AG,GG 32.1163,35.5424,33.2769 , 45/222,45/320 129102840 4328,8678 2203 4300 6503 SO:0001819 synonymous_variant AK000001 CCDS35142.1 9q34.12 2012-12-03 2012-12-03 2012-12-03 ENSG00000196814 ENSG00000196814 89853 23368 protein-coding gene gene with protein product chromosome 9 open reading frame 28, family with sequence similarity 125, member B C9orf28, FAM125B NA 18005716, 20654576, 22232651 Standard XM_088525 NM_033446 NA Approved FLJ00001 uc004bqh.2 Q9H7P6 OTTHUMG00000020687 ENST00000361171.3:c.135G>A chr9.hg19:g.129102840G>A NA Q8N6S7 hg19 CCDS35142.1 0.02 8.587217 AACxTCA COVERED NOVEL MVB12B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054110.1 0 10.369832 KEEP 0 1 36 47 1653 GG 1 1 0 + 10 60 355 0 0 22.539074 214 60 7640 357 ENST00000361171.3 0.044643 1 LMX1B 4010 __UNKNOWN__ __UNKNOWN__ 9 129453229 129453229 __UNKNOWN__ Silent SNP A A G rs2277158 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:129453229A>G ENST00000561065.1 + 3 422 c.372A>G c.(370-372)gaA>gaG p.E124E LMX1B_ENST00000425646.2_Silent_p.E124E|LMX1B_ENST00000526117.1_Silent_p.E147E|LMX1B_ENST00000373474.4_Silent_p.E147E|LMX1B_ENST00000355497.5_Silent_p.E147E O60663 LMX1B_HUMAN LIM homeobox transcription factor 1, beta 147 LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}. NA cell proliferation (GO:0008283)|central nervous system neuron development (GO:0021954)|cerebellum morphogenesis (GO:0021587)|collagen fibril organization (GO:0030199)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral pattern formation (GO:0009953)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|midbrain development (GO:0030901)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|organ growth (GO:0035265)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|trabecular meshwork development (GO:0002930)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270) endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 15 GCGTGTGTGAACGGCAGCTAC 0.627 NA Nail-Patella Syndrome G||| 2404 0.480032 0.5454 0.4092 5008 , , NA 21001 0.5585 NA 0.4394 False NA ,,, NA NA NA 2504 0.4029 NA NA NA Pancreas(110;1796 2278 18357 20466) NA 0 G ,, 2312,2094 570.5+/-382.9 612,1088,503 82 63 70 441,441,441 3.1 1 9 dbSNP_100 70 3704,4896 618.9+/-396.8 801,2102,1397 no coding-synonymous,coding-synonymous,coding-synonymous LMX1B NM_001174146.1,NM_001174147.1,NM_002316.3 ,, 1413,3190,1900 GG,GA,AA 43.0698,47.5261,46.2556 ,, 147/407,147/403,147/396 129453229 6016,6990 2203 4300 6503 SO:0001819 synonymous_variant Familial Cancer Database Osteo-Onychodysplasia, Turner-Kieser syndrome, Fong disease U77457 CCDS6866.1, CCDS6866.2, CCDS55342.1, CCDS55343.1 9q33.3 2011-06-20 ENSG00000136944 ENSG00000136944 4010 Homeoboxes / LIM class 6654 protein-coding gene gene with protein product 602575 NPS1 NA 9441763, 9590287 Standard NM_002316 NA Approved uc004bqj.3 O60663 OTTHUMG00000020692 ENST00000561065.1:c.372A>G chr9.hg19:g.129453229A>G NA F8W7W6|O75463|Q5JU95|Q6ISC9 hg19 0.02 15.495443 TGAxCGG COVERED NOVEL LMX1B-003 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000415751.1 1 27.072925 KEEP 0 0 0 90 2743 AA 1 1 0 + 15 60 600 0 0 41.078465 295 60 10633 513 ENST00000561065.1 0.048387 1 ZBTB43 23099 __UNKNOWN__ __UNKNOWN__ 9 129595667 129595667 __UNKNOWN__ Silent SNP C C T rs80025775 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:129595667C>T ENST00000373464.4 + 3 1143 c.879C>T c.(877-879)atC>atT p.I293I ZBTB43_ENST00000373457.1_Silent_p.I293I|ZBTB43_ENST00000449886.1_Silent_p.I293I NM_014007.3 NP_054726.1 O43298 ZBT43_HUMAN zinc finger and BTB domain containing 43 293 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 ACTTCCACATCGGGGAGAAGA 0.527 NA C||| 541 0.108027 0.003 0.0346 5008 , , NA 21351 0.3899 NA 0.001 False NA ,,, NA NA NA 2504 0.1217 NA NA NA NA 0 C , 28,4378 33.5+/-64.1 0,28,2175 63 60 61 879,879 -9.9 0 9 dbSNP_131 61 14,8586 10.5+/-38.8 1,12,4287 no coding-synonymous,coding-synonymous ZBTB43 NM_001135776.1,NM_014007.3 , 1,40,6462 TT,TC,CC 0.1628,0.6355,0.3229 , 293/468,293/468 129595667 42,12964 2203 4300 6503 SO:0001819 synonymous_variant AF049907 CCDS6867.1 9q33.3 2013-01-09 2006-04-12 2006-04-12 ENSG00000169155 ENSG00000169155 23099 -, BTB/POZ domain containing, Zinc fingers, C2H2-type 17908 protein-coding gene gene with protein product zinc finger protein 297B ZNF297B NA Standard NM_001135776 NM_014007 NA Approved KIAA0414, ZNF-X, FLJ22470, ZBTB22B uc010mxf.3 O43298 OTTHUMG00000020693 ENST00000373464.4:c.879C>T chr9.hg19:g.129595667C>T NA Q5JU96 hg19 CCDS6867.1 0.02 18.185963 CATxGGG COVERED NOVEL ZBTB43-001 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054124.1 3 25.444748 KEEP 0 1 9 88 2982 CC 1 1 0 + 16 60 598 0 0 37.695325 418 60 14913 630 ENST00000373464.4 0.036866 1 ANGPTL2 23452 __UNKNOWN__ __UNKNOWN__ 9 129850053 129850053 __UNKNOWN__ 3'UTR SNP C C T rs185044047 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:129850053C>T ENST00000373425.3 - 0 3264 RALGPS1_ENST00000373436.1_Intron|RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000259351.5_Intron|ANGPTL2_ENST00000373417.1_3'UTR NM_012098.2 NP_036230.1 Q9UKU9 ANGL2_HUMAN angiopoietin-like 2 NA NA multicellular organismal development (GO:0007275) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) receptor binding (GO:0005102) breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1) 18 AGATGAGATGCGGACTCTAGT 0.502 NA C||| 6 0.00119808 0.0 0.0014 5008 , , NA 19493 0.005 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF125175 CCDS6868.1 9q34 2013-02-06 ENSG00000136859 ENSG00000136859 23452 Fibrinogen C domain containing 490 protein-coding gene gene with protein product 605001 NA 10473614 Standard NM_012098 NM_012098 NA Approved ARP2, HARP uc004bqr.1 Q9UKU9 OTTHUMG00000020695 ENST00000373425.3:c.*1165G>A chr9.hg19:g.129850053C>T NA Q5JT58|Q8NCH7 hg19 CCDS6868.1 0.02 12.376983 ATGxGGA COVERED NOVEL ANGPTL2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054129.1 2 23.309453 KEEP 0 1 30 88 3060 CC 1 1 0 - 13 60 460 0 0 28.716881 301 60 10651 505 ENST00000373425.3 0.041401 1 GARNL3 84253 __UNKNOWN__ __UNKNOWN__ 9 130094526 130094526 __UNKNOWN__ Intron SNP T T G rs10987596 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:130094526T>G ENST00000373387.4 + 8 946 GARNL3_ENST00000435213.2_Intron|GARNL3_ENST00000314904.5_Intron NM_032293.4 NP_115669.3 Q5VVW2 GARL3_HUMAN GTPase activating Rap/RanGAP domain-like 3 NA NA regulation of small GTPase mediated signal transduction (GO:0051056) GTPase activator activity (GO:0005096)|small GTPase regulator activity (GO:0005083) NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2) 41 TAAAATTAACTGTAACACCTT 0.433 NA T||| 1045 0.208666 0.0272 0.1686 5008 , , NA 20326 0.3224 NA 0.1948 False NA ,,, NA NA NA 2504 0.3793 NA NA NA NA 0 T 295,4111 161.4+/-193.6 8,279,1916 185 193 190 1.5 0 9 dbSNP_120 190 1827,6773 328.6+/-318.4 200,1427,2673 no intron GARNL3 NM_032293.4 208,1706,4589 GG,GT,TT 21.2442,6.6954,16.3155 130094526 2122,10884 2203 4300 6503 SO:0001627 intron_variant BC034983 CCDS6869.2, CCDS69663.1 9q34.13 2009-09-14 2004-08-09 ENSG00000136895 ENSG00000136895 84253 25425 protein-coding gene gene with protein product GTPase activating RANGAP domain-like 3 NA 11230166 Standard NM_032293 NM_032293 NA Approved DKFZp761J1523, bA356B19.1 uc011mae.2 Q5VVW2 OTTHUMG00000020700 ENST00000373387.4:c.595-27T>G chr9.hg19:g.130094526T>G NA B4DEP7|B7Z3Q6|Q8IYU1|Q8N951|Q8ND89|Q9BQH6 hg19 CCDS6869.2 0.02 7.959395 AACxGTA COVERED NOVEL GARNL3-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054151.3 1 24.069267 KEEP 0 0 0 80 2480 TT 1 1 0 + 10 60 353 0 0 21.847391 240 60 9030 412 ENST00000373387.4 0.04 1 GARNL3 84253 __UNKNOWN__ __UNKNOWN__ 9 130097707 130097707 __UNKNOWN__ Intron SNP A A G rs148061449 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:130097707A>G ENST00000373387.4 + 10 1225 GARNL3_ENST00000435213.2_Intron|GARNL3_ENST00000314904.5_Intron NM_032293.4 NP_115669.3 Q5VVW2 GARL3_HUMAN GTPase activating Rap/RanGAP domain-like 3 NA NA regulation of small GTPase mediated signal transduction (GO:0051056) GTPase activator activity (GO:0005096)|small GTPase regulator activity (GO:0005083) NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2) 41 CGGTTAACATATGAGCTGAGC 0.443 NA A||| 10 0.00199681 0.0 0.0 5008 , , NA 20295 0.0099 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC034983 CCDS6869.2, CCDS69663.1 9q34.13 2009-09-14 2004-08-09 ENSG00000136895 ENSG00000136895 84253 25425 protein-coding gene gene with protein product GTPase activating RANGAP domain-like 3 NA 11230166 Standard NM_032293 NM_032293 NA Approved DKFZp761J1523, bA356B19.1 uc011mae.2 Q5VVW2 OTTHUMG00000020700 ENST00000373387.4:c.873+95A>G chr9.hg19:g.130097707A>G NA B4DEP7|B7Z3Q6|Q8IYU1|Q8N951|Q8ND89|Q9BQH6 hg19 CCDS6869.2 0.02 8.599305 CATxTGA COVERED NOVEL GARNL3-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054151.3 0 9.62746 KEEP 0 0 0 32 968 AA 0.999997 0.999997 0 + 12 60 419 0 0 27.293084 222 60 8074 301 ENST00000373387.4 0.051282 1 LRSAM1 90678 __UNKNOWN__ __UNKNOWN__ 9 130223560 130223560 __UNKNOWN__ Intron SNP G G A rs117528271 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:130223560G>A ENST00000323301.4 + 7 1010 LRSAM1_ENST00000300417.6_Intron|LRSAM1_ENST00000373322.1_Intron|LRSAM1_ENST00000373324.4_Intron NM_138361.5 NP_612370.3 Q6UWE0 LRSM1_HUMAN leucine rich repeat and sterile alpha motif containing 1 NA NA cell death (GO:0008219)|negative regulation of endocytosis (GO:0045806)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent endocytosis (GO:0070086)|viral budding (GO:0046755) cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020) ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2) 16 AGCCGTGTCCGTGTGACCCTC 0.617 NA G||| 65 0.0129792 0.0 0.0014 5008 , , NA 16747 0.0635 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 60 53 55 NA NA 9 NA 130223560 2203 4300 6503 SO:0001627 intron_variant AK056203 CCDS6873.1, CCDS55347.1 9q34.13 2014-09-17 ENSG00000148356 ENSG00000148356 90678 Sterile alpha motif (SAM) domain containing 25135 protein-coding gene gene with protein product 610933 NA 12975309 Standard NM_138361 NM_001005373 NA Approved FLJ31641 uc004brd.2 Q6UWE0 OTTHUMG00000020701 ENST00000323301.4:c.406+24G>A chr9.hg19:g.130223560G>A NA Q5VVV0|Q8NB40|Q96GT5|Q96MX5|Q96MZ7 hg19 CCDS6873.1 0.02 4.282897 TCCxTGT COVERED NOVEL LRSAM1-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054164.1 1 15.331461 KEEP 0 0 0 51 1709 GG 1 1 0 + 5 60 189 0 0 11.986024 131 60 4711 237 ENST00000323301.4 0.036765 1 SH2D3C 10044 __UNKNOWN__ __UNKNOWN__ 9 130502544 130502544 __UNKNOWN__ Silent SNP C C T rs2233514 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:130502544C>T ENST00000314830.8 - 10 2306 c.2193G>A c.(2191-2193)gaG>gaA p.E731E SH2D3C_ENST00000373277.4_Silent_p.E574E|SH2D3C_ENST00000373276.3_Silent_p.E663E|SH2D3C_ENST00000429553.1_Silent_p.E377E|SH2D3C_ENST00000420366.1_Silent_p.E573E|SH2D3C_ENST00000373274.3_Silent_p.E571E NM_170600.2 NP_733745.1 Q8N5H7 SH2D3_HUMAN SH2 domain containing 3C 731 Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}. NA JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264) cytoplasm (GO:0005737)|membrane (GO:0016020) guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 TACCTTTGCCCTCGTTGAGGC 0.587 NA C||| 44 0.00878594 0.0 0.0 5008 , , NA 22044 0.0437 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 130 100 110 NA NA 9 NA 130502544 2203 4300 6503 SO:0001819 synonymous_variant AF124251 CCDS6877.1, CCDS6878.1, CCDS48026.1, CCDS48028.1, CCDS59145.1 9q33.1-q33.3 2013-02-14 2002-01-14 ENSG00000095370 ENSG00000095370 10044 SH2 domain containing 16884 protein-coding gene gene with protein product 604722 SH2 domain-containing 3C NA 10187783 Standard NM_005489 NM_170600 NA Approved NSP3 uc004bsc.3 Q8N5H7 OTTHUMG00000020717 ENST00000314830.8:c.2193G>A chr9.hg19:g.130502544C>T NA A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5 hg19 CCDS6877.1 0.02 9.399198 GCCxTCG COVERED NOVEL SH2D3C-004 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000054264.1 2 23.776825 KEEP 0 0 0 79 2809 CC 1 1 0 - 7 60 270 0 0 17.001083 204 60 7669 369 ENST00000314830.8 0.033175 1 CDK9 1025 __UNKNOWN__ __UNKNOWN__ 9 130553040 130553040 __UNKNOWN__ 3'UTR SNP C C T rs10987728 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:130553040C>T ENST00000373264.4 + 0 2437 CDK9_ENST00000373265.2_3'UTR NM_001261.3 NP_001252.1 P50750 CDK9_HUMAN cyclin-dependent kinase 9 NA NA cell proliferation (GO:0008283)|cellular response to cytokine stimulus (GO:0071345)|DNA repair (GO:0006281)|gene expression (GO:0010467)|negative regulation of cell cycle arrest (GO:0071157)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of DNA repair (GO:0006282)|regulation of histone modification (GO:0031056)|replication fork arrest (GO:0043111)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032) cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|positive transcription elongation factor complex b (GO:0008024)|transcription elongation factor complex (GO:0008023) ATP binding (GO:0005524)|chromatin binding (GO:0003682)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|DNA binding (GO:0003677)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|snRNA binding (GO:0017069)|transcription regulatory region DNA binding (GO:0044212) lung(1) 1 CAGACCACAACACAAAAGGCC 0.448 NA C||| 277 0.0553115 0.0008 0.0029 5008 , , NA 16724 0.2599 NA 0.0089 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L25676 CCDS6879.1 9q34.1 2011-11-08 2007-11-21 ENSG00000136807 ENSG00000136807 1025 Cyclin-dependent kinases 1780 protein-coding gene gene with protein product 603251 cyclin-dependent kinase 9 (CDC2-related kinase) CDC2L4 NA 8170997, 9356449 Standard NM_001261 NA Approved PITALRE, C-2k, TAK uc004bse.2 P50750 OTTHUMG00000020715 ENST00000373264.4:c.*1218C>T chr9.hg19:g.130553040C>T NA Q5JU24|Q5JU25|Q5U006|Q96TF1 hg19 CCDS6879.1 0.02 -0.350586 CAAxACA COVERED NOVEL CDK9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054235.1 6 6.6197 KEEP 0 0 0 22 745 CC 0.999879 0.877601 0 + 4 60 141 0 0 10.364596 36 60 1215 72 ENST00000373264.4 0.1 0.877708 AK1 203 __UNKNOWN__ __UNKNOWN__ 9 130629139 130629139 __UNKNOWN__ 3'UTR SNP T T G rs913987 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:130629139T>G ENST00000373176.1 - 0 1885 NM_000476.2 NP_000467.1 adenylate kinase 1 NA NA endometrium(1)|prostate(1) 2 CAGTGTGTTCTCATCCTGACC 0.602 NA T||| 3549 0.708666 0.3699 0.8055 5008 , , NA 15216 0.9127 NA 0.8181 False NA ,,, NA NA NA 2504 0.7751 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant J04809 CCDS6881.1 9q34.1 2008-02-05 ENSG00000106992 ENSG00000106992 203 2.7.4.3 Adenylate kinases 361 protein-coding gene gene with protein product 103000 NA Standard NM_000476 NA Approved uc004bsm.4 P00568 OTTHUMG00000020722 ENST00000373176.1:c.*1148A>C chr9.hg19:g.130629139T>G NA hg19 CCDS6881.1 0.02 4.513737 TTCxCAT COVERED NOVEL AK1-008 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054307.1 1 15.948934 KEEP 0 0 0 53 1697 TT 1 0.999999 0 - 10 60 366 0 0 26.388886 111 60 4027 210 ENST00000373176.1 0.082645 0.999999 AK1 203 __UNKNOWN__ __UNKNOWN__ 9 130630233 130630233 __UNKNOWN__ 3'UTR SNP G G T rs4226 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:130630233G>T ENST00000373176.1 - 0 791 RP11-203J24.9_ENST00000476274.2_RNA NM_000476.2 NP_000467.1 adenylate kinase 1 NA NA endometrium(1)|prostate(1) 2 GGAGGACCTCGAATCAGGACG 0.627 NA G||| 3414 0.681709 0.3517 0.7089 5008 , , NA 15679 0.9018 NA 0.8022 False NA ,,, NA NA NA 2504 0.7577 NA NA NA NA 0 G 575,809 121,333,238 37 37 37 -7.6 0 9 dbSNP_36 37 2538,644 1007,524,60 no utr-3 AK1 NM_000476.2 1128,857,298 TT,TG,GG 20.2388,41.5462,31.8222 130630233 3113,1453 692 1591 2283 SO:0001624 3_prime_UTR_variant J04809 CCDS6881.1 9q34.1 2008-02-05 ENSG00000106992 ENSG00000106992 203 2.7.4.3 Adenylate kinases 361 protein-coding gene gene with protein product 103000 NA Standard NM_000476 NA Approved uc004bsm.4 P00568 OTTHUMG00000020722 ENST00000373176.1:c.*54C>A chr9.hg19:g.130630233G>T NA hg19 CCDS6881.1 0.02 4.757454 CTCxAAT COVERED NOVEL AK1-008 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054307.1 1 21.968723 KEEP 0 0 0 73 2439 GG 1 0.999997 0 - 10 60 361 0 0 26.08169 106 60 3615 231 ENST00000373176.1 0.086207 0.999997 PIP5KL1 138429 __UNKNOWN__ __UNKNOWN__ 9 130689407 130689407 __UNKNOWN__ Intron SNP G G C rs73669496 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:130689407G>C ENST00000388747.4 - 7 695 PIP5KL1_ENST00000490773.1_Intron|PIP5KL1_ENST00000300432.3_Intron NM_001135219.1 NP_001128691.1 Q5T9C9 PI5L1_HUMAN phosphatidylinositol-4-phosphate 5-kinase-like 1 NA NA cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020) 1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524) endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1) 8 TGGGATGGGGGCCCAAACCTG 0.642 NA C||| 263 0.052516 0.1051 0.0274 5008 , , NA 13171 0.1002 NA 0.001 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 C , 298,4108 11,276,1916 28 28 28 , -0.5 0 9 dbSNP_130 28 5,8593 0,5,4294 no intron,intron PIP5KL1 NM_001135219.1,NM_173492.1 , 11,281,6210 CC,CG,GG 0.0582,6.7635,2.3301 , , 130689407 303,12701 2203 4299 6502 SO:0001627 intron_variant BC042184 CCDS6885.1, CCDS48030.1 9q34.13 2008-02-05 ENSG00000167103 ENSG00000167103 138429 28711 protein-coding gene gene with protein product 612865 NA 12477932 Standard NM_173492 NM_001135219 NA Approved bA203J24.5, MGC46424 uc011mao.2 Q5T9C9 OTTHUMG00000020719 ENST00000388747.4:c.650+24C>G chr9.hg19:g.130689407G>C NA Q8IVS3 hg19 CCDS48030.1 0.02 6.413074 GGGxCCC COVERED NOVEL PIP5KL1-004 NOVEL not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054289.2 1 13.543553 KEEP 0 0 0 45 1583 GG 1 1 0 - 8 60 275 0 0 17.695013 145 60 5248 223 ENST00000388747.4 0.052288 1 PIP5KL1 138429 __UNKNOWN__ __UNKNOWN__ 9 130690412 130690412 __UNKNOWN__ Silent SNP G G C rs10760515 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:130690412G>C ENST00000388747.4 - 4 410 c.366C>G c.(364-366)gcC>gcG p.A122A PIP5KL1_ENST00000490773.1_5'UTR NM_001135219.1 NP_001128691.1 Q5T9C9 PI5L1_HUMAN phosphatidylinositol-4-phosphate 5-kinase-like 1 122 PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}. NA cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020) 1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524) endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1) 8 CGGGGCCCAGGGCAGCCTGAT 0.711 NA C||| 3874 0.773562 0.708 0.902 5008 , , NA 13179 0.6528 NA 0.9195 False NA ,,, NA NA NA 2504 0.7454 NA NA NA NA 0 C 2275,781 854,567,107 10 12 11 366 -6.2 0.1 9 dbSNP_120 11 6438,608 2949,540,34 no coding-synonymous PIP5KL1 NM_001135219.1 3803,1107,141 CC,CG,GG 8.629,25.5563,13.7498 122/395 130690412 8713,1389 1528 3523 5051 SO:0001819 synonymous_variant BC042184 CCDS6885.1, CCDS48030.1 9q34.13 2008-02-05 ENSG00000167103 ENSG00000167103 138429 28711 protein-coding gene gene with protein product 612865 NA 12477932 Standard NM_173492 NM_001135219 NA Approved bA203J24.5, MGC46424 uc011mao.2 Q5T9C9 OTTHUMG00000020719 ENST00000388747.4:c.366C>G chr9.hg19:g.130690412G>C NA Q8IVS3 hg19 CCDS48030.1 0.02 4.410538 CAGxGCA COVERED NOVEL PIP5KL1-004 NOVEL not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054289.2 1 21.925038 KEEP 0 0 0 73 2580 GG 1 0.999993 0 - 6 60 216 0 0 14.354371 104 60 3864 258 ENST00000388747.4 0.054545 0.999993 RP11-203J24.8 0 __UNKNOWN__ __UNKNOWN__ 9 130697328 130697328 __UNKNOWN__ RNA SNP G G A rs10819321 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:130697328G>A ENST00000592240.1 + 0 143 NA NA NA ACCCAAGACCGCTCCCAGCCC 0.612 NA G||| 3187 0.636382 0.5174 0.8458 5008 , , NA 18621 0.3929 NA 0.8698 False NA ,,, NA NA NA 2504 0.6595 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000592240.1: chr9.hg19:g.130697328G>A NA hg19 0.02 -0.368327 ACCxCTC COVERED NOVEL RP11-203J24.8-002 KNOWN basic antisense NA antisense OTTHUMT00000460668.1 0 5.116242 KEEP 0 0 0 17 575 GG 0.999366 0.898744 0 + 5 60 183 0 0 14.029311 37 60 1209 68 ENST00000592240.1 0.119048 0.899314 DPM2 8818 __UNKNOWN__ __UNKNOWN__ 9 130698029 130698029 __UNKNOWN__ Missense_Mutation SNP G G C rs7997 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:130698029G>C ENST00000314392.8 - 4 890 c.227C>G c.(226-228)aCc>aGc p.T76S RP11-203J24.8_ENST00000592240.1_RNA NM_003863.3 NP_003854.1 O94777 DPM2_HUMAN dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit 76 NA T -> S (in dbSNP:rs7997). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:19054851, ECO:0000269|Ref.6}. C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)|regulation of protein stability (GO:0031647) dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of endoplasmic reticulum membrane (GO:0030176)|perinuclear region of cytoplasm (GO:0048471) dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)|enzyme regulator activity (GO:0030234) lung(1) 1 CACTCTCTTGGTCTTCAGCAT 0.577 NA C||| 3423 0.683506 0.6467 0.8545 5008 , , NA 21281 0.4484 NA 0.8708 False NA ,,, NA NA NA 2504 0.6616 NA NA NA NA 0 C SER/THR 2996,1410 461.7+/-353.0 1022,952,229 138 115 123 227 2.7 0.4 9 dbSNP_52 123 7466,1134 233.5+/-266.7 3251,964,85 yes missense DPM2 NM_003863.3 58 4273,1916,314 CC,CG,GG 13.186,32.0018,19.5602 benign 76/85 130698029 10462,2544 2203 4300 6503 SO:0001583 missense AB013361 CCDS6886.1 9q34.13 2013-02-26 ENSG00000136908 ENSG00000136908 8818 3006 protein-coding gene gene with protein product DPM synthase complex subunit 603564 NA 9724629 Standard NM_003863 NM_003863 NA Approved MGC21559, MGC111193 uc004bsv.2 O94777 OTTHUMG00000020725 ENST00000314392.8:c.227C>G chr9.hg19:g.130698029G>C ENSP00000322181:p.Thr76Ser NA Q5XKK9|Q6FGH3 hg19 CCDS6886.1 0.02 13.922886 TTGxTCT COVERED 1541 0.7055860805860806 335 0.6808943089430894 303 0.8370165745856354 248 0.43356643356643354 655 0.8641160949868074 C 0.030 -1.343316 0.01277 0.679982 0.86814 ENSG00000136908 ENST00000314392 T 0.60672 0.17 5.06 2.74 0.32292 . . . . . T 0.00012 0.0000 . . . 0.09310 P 0.99999913218 B 0.02656 0.0 B 0.01281 0.0 T 0.43163 -0.9408 7 0.02654 T 1 . 4.0792 0.09919 0.0:0.1936:0.1787:0.6277 rs7997;rs3209321;rs10760517;rs60872613;rs7997 76 O94777 DPM2_HUMAN S 76 ENSP00000322181:T76S ENSP00000322181:T76S T - 2 0 DPM2 129737850 0.965000 0.33210 0.392000 0.26245 0.466000 0.32739 0.141000 0.16076 0.058000 0.16222 -1.218000 0.01608 ACC NOVEL DPM2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054324.1 3 29.336421 KEEP 0 2 73 123 4299 GG 1 1 0 - 17 60 646 0 0 43.612105 314 60 11534 596 ENST00000314392.8 0.05136 1 DPM2 8818 __UNKNOWN__ __UNKNOWN__ 9 130698043 130698043 __UNKNOWN__ Silent SNP A A G rs6781 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:130698043A>G ENST00000314392.8 - 4 876 c.213T>C c.(211-213)taT>taC p.Y71Y RP11-203J24.8_ENST00000592240.1_RNA NM_003863.3 NP_003854.1 O94777 DPM2_HUMAN dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit 71 NA C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)|regulation of protein stability (GO:0031647) dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of endoplasmic reticulum membrane (GO:0030176)|perinuclear region of cytoplasm (GO:0048471) dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)|enzyme regulator activity (GO:0030234) lung(1) 1 TCAGCATCACATAGGAGATGA 0.577 NA G||| 3661 0.73103 0.6498 0.8833 5008 , , NA 21533 0.6498 NA 0.8728 False NA ,,, NA NA NA 2504 0.6708 NA NA NA NA 0 G 3001,1405 460.7+/-352.7 1024,953,226 130 109 116 213 -4.8 0.4 9 dbSNP_52 116 7478,1122 231.8+/-265.7 3262,954,84 no coding-synonymous DPM2 NM_003863.3 4286,1907,310 GG,GA,AA 13.0465,31.8883,19.4295 71/85 130698043 10479,2527 2203 4300 6503 SO:0001819 synonymous_variant AB013361 CCDS6886.1 9q34.13 2013-02-26 ENSG00000136908 ENSG00000136908 8818 3006 protein-coding gene gene with protein product DPM synthase complex subunit 603564 NA 9724629 Standard NM_003863 NM_003863 NA Approved MGC21559, MGC111193 uc004bsv.2 O94777 OTTHUMG00000020725 ENST00000314392.8:c.213T>C chr9.hg19:g.130698043A>G NA Q5XKK9|Q6FGH3 hg19 CCDS6886.1 0.02 16.334909 CACxTAG COVERED NOVEL DPM2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054324.1 3 31.856345 KEEP 0 2 72 131 4093 AA 1 1 0 - 20 60 716 0 0 47.853317 331 60 12204 633 ENST00000314392.8 0.05698 1 DPM2 8818 __UNKNOWN__ __UNKNOWN__ 9 130698419 130698419 __UNKNOWN__ Intron SNP G G A rs79583590 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:130698419G>A ENST00000314392.8 - 4 860 DPM2_ENST00000373110.4_3'UTR|RP11-203J24.8_ENST00000592240.1_RNA NM_003863.3 NP_003854.1 O94777 DPM2_HUMAN dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit NA NA C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)|regulation of protein stability (GO:0031647) dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of endoplasmic reticulum membrane (GO:0030176)|perinuclear region of cytoplasm (GO:0048471) dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)|enzyme regulator activity (GO:0030234) lung(1) 1 caTCATCCAGGCACCCGGCTG 0.542 NA G||| 92 0.0183706 0.0083 0.0 5008 , , NA 20662 0.0764 NA 0.001 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB013361 CCDS6886.1 9q34.13 2013-02-26 ENSG00000136908 ENSG00000136908 8818 3006 protein-coding gene gene with protein product DPM synthase complex subunit 603564 NA 9724629 Standard NM_003863 NM_003863 NA Approved MGC21559, MGC111193 uc004bsv.2 O94777 OTTHUMG00000020725 ENST00000314392.8:c.197-360C>T chr9.hg19:g.130698419G>A NA Q5XKK9|Q6FGH3 hg19 CCDS6886.1 0.02 6.10264 CAGxCAC COVERED NOVEL DPM2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054324.1 0 20.464261 KEEP 0 0 0 68 2352 GG 1 1 0 - 11 60 389 0 0 26.230393 167 60 6144 283 ENST00000314392.8 0.061798 1 DPM2 8818 __UNKNOWN__ __UNKNOWN__ 9 130699917 130699917 __UNKNOWN__ Intron SNP G G A rs2274424 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:130699917G>A ENST00000314392.8 - 2 667 DPM2_ENST00000373110.4_Intron|RP11-203J24.8_ENST00000592240.1_RNA NM_003863.3 NP_003854.1 O94777 DPM2_HUMAN dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit NA NA C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)|regulation of protein stability (GO:0031647) dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of endoplasmic reticulum membrane (GO:0030176)|perinuclear region of cytoplasm (GO:0048471) dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)|enzyme regulator activity (GO:0030234) lung(1) 1 AGATGGTAGAGGGCTGACTAG 0.577 NA G||| 3225 0.64397 0.562 0.8458 5008 , , NA 18245 0.373 NA 0.8698 False NA ,,, NA NA NA 2504 0.6585 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB013361 CCDS6886.1 9q34.13 2013-02-26 ENSG00000136908 ENSG00000136908 8818 3006 protein-coding gene gene with protein product DPM synthase complex subunit 603564 NA 9724629 Standard NM_003863 NM_003863 NA Approved MGC21559, MGC111193 uc004bsv.2 O94777 OTTHUMG00000020725 ENST00000314392.8:c.4-115C>T chr9.hg19:g.130699917G>A NA Q5XKK9|Q6FGH3 hg19 CCDS6886.1 0.02 6.804589 AGAxGGC COVERED NOVEL DPM2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054324.1 0 22.225254 KEEP 0 2 66 97 3397 GG 1 1 0 - 8 60 303 0 0 19.735362 181 60 6808 349 ENST00000314392.8 0.042328 1 DPM2 8818 __UNKNOWN__ __UNKNOWN__ 9 130700251 130700251 __UNKNOWN__ 5'UTR SNP T T C rs6478802 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:130700251T>C ENST00000314392.8 - 0 512 RP11-203J24.8_ENST00000588890.1_RNA|RP11-203J24.8_ENST00000590283.1_RNA|RP11-203J24.8_ENST00000587355.1_RNA|RP11-203J24.8_ENST00000586374.1_RNA|RP11-203J24.8_ENST00000592240.1_RNA|RP11-203J24.8_ENST00000587978.1_RNA NM_003863.3 NP_003854.1 O94777 DPM2_HUMAN dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit NA NA C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)|regulation of protein stability (GO:0031647) dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of endoplasmic reticulum membrane (GO:0030176)|perinuclear region of cytoplasm (GO:0048471) dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)|enzyme regulator activity (GO:0030234) lung(1) 1 CGCCTCCTCTTCTTTGCATAT 0.627 NA C||| 3425 0.683906 0.6475 0.8545 5008 , , NA 15989 0.4494 NA 0.8708 False NA ,,, NA NA NA 2504 0.6616 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AB013361 CCDS6886.1 9q34.13 2013-02-26 ENSG00000136908 ENSG00000136908 8818 3006 protein-coding gene gene with protein product DPM synthase complex subunit 603564 NA 9724629 Standard NM_003863 NM_003863 NA Approved MGC21559, MGC111193 uc004bsv.2 O94777 OTTHUMG00000020725 ENST00000314392.8:c.-152A>G chr9.hg19:g.130700251T>C NA Q5XKK9|Q6FGH3 hg19 CCDS6886.1 0.02 4.238383 TCTxCTT COVERED NOVEL DPM2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054324.1 0 15.644936 KEEP 0 0 0 52 1589 TT 1 1 0 - 9 60 333 0 0 23.062115 132 60 4676 199 ENST00000314392.8 0.06383 1 FAM102A 399665 __UNKNOWN__ __UNKNOWN__ 9 130703153 130703153 __UNKNOWN__ 3'UTR SNP A A C rs200385840 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:130703153A>C ENST00000373095.1 - 0 3848 RP11-203J24.8_ENST00000415141.2_RNA NM_001035254.2 NP_001030331.1 Q5T9C2 F102A_HUMAN family with sequence similarity 102, member A NA NA breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4) 10 AAAAAAAAAAACCTAAAGATA 0.363 NA A||| 2316 0.46246 0.3472 0.6585 5008 , , NA 18580 0.3998 NA 0.8509 False NA ,,, NA NA NA 2504 0.1442 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS6888.1, CCDS35150.1 9q34.11 2012-11-05 2005-11-17 2005-11-17 ENSG00000167106 ENSG00000167106 399665 31419 protein-coding gene gene with protein product sym-3 homolog A (C. elegans) 610891 chromosome 9 open reading frame 132 C9orf132 NA Standard NM_001035254 NA Approved Eeig1, bA203J24.7, SYM-3A uc004bsx.2 Q5T9C2 OTTHUMG00000020720 ENST00000373095.1:c.*2318T>G chr9.hg19:g.130703153A>C NA A2A329|Q8TEL4 hg19 CCDS35150.1 0.02 4.352851 AAAxCCT COVERED NOVEL FAM102A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054298.2 1 20.15604 KEEP 0 0 0 67 1986 AA 1 1 0 - 5 60 186 0 0 11.820006 123 60 4255 236 ENST00000373095.1 0.039062 1 FAM102A 399665 __UNKNOWN__ __UNKNOWN__ 9 130703789 130703789 __UNKNOWN__ 3'UTR SNP G G A rs6478803 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:130703789G>A ENST00000373095.1 - 0 3212 FAM102A_ENST00000300434.3_5'UTR|FAM102A_ENST00000373084.4_3'UTR NM_001035254.2 NP_001030331.1 Q5T9C2 F102A_HUMAN family with sequence similarity 102, member A NA NA breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4) 10 CAGCGCGAGCGAACACTCTGT 0.522 NA A||| 3425 0.683906 0.6475 0.8545 5008 , , NA 17890 0.4494 NA 0.8708 False NA ,,, NA NA NA 2504 0.6616 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS6888.1, CCDS35150.1 9q34.11 2012-11-05 2005-11-17 2005-11-17 ENSG00000167106 ENSG00000167106 399665 31419 protein-coding gene gene with protein product sym-3 homolog A (C. elegans) 610891 chromosome 9 open reading frame 132 C9orf132 NA Standard NM_001035254 NA Approved Eeig1, bA203J24.7, SYM-3A uc004bsx.2 Q5T9C2 OTTHUMG00000020720 ENST00000373095.1:c.*1682C>T chr9.hg19:g.130703789G>A NA A2A329|Q8TEL4 hg19 CCDS35150.1 0.02 4.101863 AGCxAAC COVERED NOVEL FAM102A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054298.2 1 25.009414 KEEP 0 1 28 93 3078 GG 1 1 0 - 9 60 298 0 0 19.791587 125 60 4198 290 ENST00000373095.1 0.067164 1 FAM102A 399665 __UNKNOWN__ __UNKNOWN__ 9 130704589 130704589 __UNKNOWN__ 3'UTR SNP G G A rs77108339 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:130704589G>A ENST00000373095.1 - 0 2412 FAM102A_ENST00000300434.3_5'UTR|FAM102A_ENST00000373084.4_3'UTR NM_001035254.2 NP_001030331.1 Q5T9C2 F102A_HUMAN family with sequence similarity 102, member A NA NA breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4) 10 GGGCACGGTCGGTGCTCAGAC 0.642 NA G||| 93 0.0185703 0.0083 0.0 5008 , , NA 19722 0.0774 NA 0.001 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS6888.1, CCDS35150.1 9q34.11 2012-11-05 2005-11-17 2005-11-17 ENSG00000167106 ENSG00000167106 399665 31419 protein-coding gene gene with protein product sym-3 homolog A (C. elegans) 610891 chromosome 9 open reading frame 132 C9orf132 NA Standard NM_001035254 NA Approved Eeig1, bA203J24.7, SYM-3A uc004bsx.2 Q5T9C2 OTTHUMG00000020720 ENST00000373095.1:c.*882C>T chr9.hg19:g.130704589G>A NA A2A329|Q8TEL4 hg19 CCDS35150.1 0.02 8.7572 GTCxGTG COVERED NOVEL FAM102A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054298.2 3 32.337048 KEEP 0 1 33 119 4056 GG 1 1 0 - 8 60 301 0 0 19.063317 208 60 7263 439 ENST00000373095.1 0.037037 1 FAM102A 399665 __UNKNOWN__ __UNKNOWN__ 9 130704975 130704975 __UNKNOWN__ 3'UTR SNP T T C rs3818510 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:130704975T>C ENST00000373095.1 - 0 2026 FAM102A_ENST00000300434.3_5'UTR|FAM102A_ENST00000373084.4_3'UTR NM_001035254.2 NP_001030331.1 Q5T9C2 F102A_HUMAN family with sequence similarity 102, member A NA NA breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4) 10 ATTCCGGAGGTGGTCTGGCCC 0.627 NA OREG0019513 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) C||| 3992 0.797125 0.7496 0.9222 5008 , , NA 18453 0.6538 NA 0.9622 False NA ,,, NA NA NA 2504 0.7505 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS6888.1, CCDS35150.1 9q34.11 2012-11-05 2005-11-17 2005-11-17 ENSG00000167106 ENSG00000167106 399665 31419 protein-coding gene gene with protein product sym-3 homolog A (C. elegans) 610891 chromosome 9 open reading frame 132 C9orf132 NA Standard NM_001035254 NA Approved Eeig1, bA203J24.7, SYM-3A uc004bsx.2 Q5T9C2 OTTHUMG00000020720 ENST00000373095.1:c.*496A>G chr9.hg19:g.130704975T>C 1582 A2A329|Q8TEL4 hg19 CCDS35150.1 0.02 8.050436 AGGxGGT COVERED NOVEL FAM102A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054298.2 5 24.364242 KEEP 0 3 100 116 3420 TT 1 1 0 - 11 60 363 0 0 22.690354 206 60 7086 438 ENST00000373095.1 0.050691 1 FAM102A 399665 __UNKNOWN__ __UNKNOWN__ 9 130707081 130707081 __UNKNOWN__ Silent SNP A A G rs2274426 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:130707081A>G ENST00000373095.1 - 9 1389 c.1014T>C c.(1012-1014)gaT>gaC p.D338D FAM102A_ENST00000300434.3_5'UTR|FAM102A_ENST00000373084.4_Silent_p.D196D NM_001035254.2 NP_001030331.1 Q5T9C2 F102A_HUMAN family with sequence similarity 102, member A 338 NA breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4) 10 CATCTGTGAAATCCTGGCTCT 0.662 NA G||| 3506 0.70008 0.7065 0.8588 5008 , , NA 16515 0.4494 NA 0.8708 False NA ,,, NA NA NA 2504 0.6616 NA NA NA NA 0 G , 3162,1244 423.2+/-340.0 1132,898,173 86 62 70 1014,588 4.9 1 9 dbSNP_100 70 7472,1128 231.4+/-265.4 3257,958,85 no coding-synonymous,coding-synonymous FAM102A NM_001035254.2,NM_203305.2 , 4389,1856,258 GG,GA,AA 13.1163,28.2342,18.2377 , 338/385,196/243 130707081 10634,2372 2203 4300 6503 SO:0001819 synonymous_variant CCDS6888.1, CCDS35150.1 9q34.11 2012-11-05 2005-11-17 2005-11-17 ENSG00000167106 ENSG00000167106 399665 31419 protein-coding gene gene with protein product sym-3 homolog A (C. elegans) 610891 chromosome 9 open reading frame 132 C9orf132 NA Standard NM_001035254 NA Approved Eeig1, bA203J24.7, SYM-3A uc004bsx.2 Q5T9C2 OTTHUMG00000020720 ENST00000373095.1:c.1014T>C chr9.hg19:g.130707081A>G NA A2A329|Q8TEL4 hg19 CCDS35150.1 0.02 16.345304 GAAxTCC COVERED NOVEL FAM102A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054298.2 1 44.939844 KEEP 0 3 108 187 5835 AA 1 1 0 - 17 60 645 0 0 42.390081 367 60 13140 703 ENST00000373095.1 0.044271 1 FAM102A 399665 __UNKNOWN__ __UNKNOWN__ 9 130710726 130710726 __UNKNOWN__ Intron SNP A A G rs4837212 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:130710726A>G ENST00000373095.1 - 5 790 FAM102A_ENST00000300434.3_Intron|FAM102A_ENST00000373084.4_Intron NM_001035254.2 NP_001030331.1 Q5T9C2 F102A_HUMAN family with sequence similarity 102, member A NA NA breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4) 10 CTATGCCCTGACCACCCACAG 0.617 NA G||| 3989 0.796526 0.7496 0.9207 5008 , , NA 20105 0.6518 NA 0.9622 False NA ,,, NA NA NA 2504 0.7505 NA NA NA NA 0 G , 3360,1046 382.3+/-324.4 1283,794,126 75 63 67 , -0.3 0 9 dbSNP_111 67 8285,315 111.6+/-171.8 3993,299,8 no intron,intron FAM102A NM_001035254.2,NM_203305.2 , 5276,1093,134 GG,GA,AA 3.6628,23.7404,10.4644 , , 130710726 11645,1361 2203 4300 6503 SO:0001627 intron_variant CCDS6888.1, CCDS35150.1 9q34.11 2012-11-05 2005-11-17 2005-11-17 ENSG00000167106 ENSG00000167106 399665 31419 protein-coding gene gene with protein product sym-3 homolog A (C. elegans) 610891 chromosome 9 open reading frame 132 C9orf132 NA Standard NM_001035254 NA Approved Eeig1, bA203J24.7, SYM-3A uc004bsx.2 Q5T9C2 OTTHUMG00000020720 ENST00000373095.1:c.415-33T>C chr9.hg19:g.130710726A>G NA A2A329|Q8TEL4 hg19 CCDS35150.1 0.02 15.777476 CTGxCCA COVERED NOVEL FAM102A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054298.2 0 27.312898 KEEP 0 1 38 104 3136 AA 1 1 0 - 18 60 606 0 0 38.490122 363 60 12054 598 ENST00000373095.1 0.047244 1 FAM102A 399665 __UNKNOWN__ __UNKNOWN__ 9 130715922 130715922 __UNKNOWN__ Intron SNP A A G rs2417062 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:130715922A>G ENST00000373095.1 - 3 643 NM_001035254.2 NP_001030331.1 Q5T9C2 F102A_HUMAN family with sequence similarity 102, member A NA NA breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4) 10 AGTTGACTGCAGAATCCCAGG 0.592 NA G||| 4210 0.840655 0.8585 0.9467 5008 , , NA 19436 0.6518 NA 0.9861 False NA ,,, NA NA NA 2504 0.7863 NA NA NA NA 0 G 3772,634 274.0+/-271.7 1622,528,53 71 65 67 4.9 0 9 dbSNP_100 67 8489,111 58.7+/-120.3 4189,111,0 no intron FAM102A NM_001035254.2 5811,639,53 GG,GA,AA 1.2907,14.3895,5.7281 130715922 12261,745 2203 4300 6503 SO:0001627 intron_variant CCDS6888.1, CCDS35150.1 9q34.11 2012-11-05 2005-11-17 2005-11-17 ENSG00000167106 ENSG00000167106 399665 31419 protein-coding gene gene with protein product sym-3 homolog A (C. elegans) 610891 chromosome 9 open reading frame 132 C9orf132 NA Standard NM_001035254 NA Approved Eeig1, bA203J24.7, SYM-3A uc004bsx.2 Q5T9C2 OTTHUMG00000020720 ENST00000373095.1:c.268-39T>C chr9.hg19:g.130715922A>G NA A2A329|Q8TEL4 hg19 CCDS35150.1 0.02 13.59804 TGCxGAA COVERED NOVEL FAM102A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054298.2 3 34.604913 KEEP 0 0 0 115 3619 AA 1 1 0 - 19 60 678 0 0 45.817389 292 60 10914 540 ENST00000373095.1 0.061093 1 DNM1 1759 __UNKNOWN__ __UNKNOWN__ 9 130980957 130980957 __UNKNOWN__ Missense_Mutation SNP C C G rs192913494 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:130980957C>G ENST00000372923.3 + 3 424 c.332C>G c.(331-333)aCc>aGc p.T111S DNM1_ENST00000393594.3_Missense_Mutation_p.T111S|DNM1_ENST00000475805.1_Missense_Mutation_p.T111S|DNM1_ENST00000486160.1_Missense_Mutation_p.T111S|DNM1_ENST00000341179.7_Missense_Mutation_p.T111S NM_004408.2 NP_004399.2 Q05193 DYN1_HUMAN dynamin 1 111 Dynamin-type G. NA endocytosis (GO:0006897)|endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898) extracellular vesicular exosome (GO:0070062)|membrane coat (GO:0030117)|microtubule (GO:0005874) GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2) 32 GTCACCGGCACCAACAAGGGC 0.592 NA C||| 21 0.00419329 0.0 0.0 5008 , , NA 17482 0.0208 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA GBM(113;146 1575 2722 28670 29921) NA 0 C SER/THR,SER/THR 1,4405 2.1+/-5.4 0,1,2202 42 36 38 332,332 5.4 1 9 38 0,8600 0,0,4300 yes missense,missense DNM1 NM_004408.2,NM_001005336.1 58,58 0,1,6502 GG,GC,CC 0.0,0.0227,0.0077 benign,benign 111/865,111/852 130980957 1,13005 2203 4300 6503 SO:0001583 missense L07807 CCDS6895.1, CCDS43882.1, CCDS75911.1, CCDS75912.1 9q34 2013-01-10 ENSG00000106976 ENSG00000106976 1759 Pleckstrin homology (PH) domain containing 2972 protein-coding gene gene with protein product 602377 DNM NA 2144893, 9143509 Standard NM_004408 XM_005251763 NA Approved uc022bob.1 Q05193 OTTHUMG00000020733 ENST00000372923.3:c.332C>G chr9.hg19:g.130980957C>G ENSP00000362014:p.Thr111Ser NA A6NLM6|Q5SYX0|Q5SYX2|Q6P3T6|Q86VD2 hg19 CCDS6895.1 0.02 12.050578 GCAxCAA COVERED 12 0.005494505494505495 0 0.0 0 0.0 12 0.02097902097902098 0 0.0 C 9.812 1.183455 0.21870 2.27E-4 0.0 ENSG00000106976 ENST00000475805;ENST00000341179;ENST00000372923;ENST00000393589;ENST00000393594;ENST00000486160 D;D;D;D;D 0.96685 -4.09;-4.09;-4.09;-4.09;-4.09 5.38 5.38 0.77491 Dynamin, GTPase domain (2); 0.415172 0.28964 N 0.013574 T 0.80752 0.4683 N 0.02674 -0.535 0.39141 D 0.962039 B;B;B 0.02656 0.0;0.0;0.0 B;B;B 0.01281 0.0;0.0;0.0 T 0.82772 -0.0292 10 0.02654 T 1 3.6543 19.1189 0.93353 0.0:1.0:0.0:0.0 . 111;111;111 Q05193;Q05193-3;Q05193-2 DYN1_HUMAN;.;. S 111;111;111;106;111;111 ENSP00000419225:T111S;ENSP00000345680:T111S;ENSP00000362014:T111S;ENSP00000377219:T111S;ENSP00000420045:T111S ENSP00000345680:T111S T + 2 0 DNM1 130020778 1.000000 0.71417 1.000000 0.80357 0.992000 0.81027 2.384000 0.44362 2.517000 0.84864 0.462000 0.41574 ACC NOVEL DNM1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000054367.1 1 31.000254 KEEP 0 0 0 103 3641 CC 1 1 0 + 11 60 428 0 0 27.657636 284 60 10336 495 ENST00000372923.3 0.037288 1 GOLGA2 2801 __UNKNOWN__ __UNKNOWN__ 9 131020236 131020236 __UNKNOWN__ Intron SNP C C T rs78530536 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:131020236C>T ENST00000421699.2 - 22 2440 GOLGA2_ENST00000609374.1_Intron NM_004486.4 NP_004477.3 Q08379 GOGA2_HUMAN golgin A2 NA NA mitotic cell cycle (GO:0000278) cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139) NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 34 CTTCTTGACCCATGCCAGGAG 0.612 NA C||| 44 0.00878594 0.0 0.0 5008 , , NA 15784 0.0437 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 C 1,4405 0,1,2202 46 52 50 2.2 0 9 dbSNP_132 50 0,8600 0,0,4300 no intron GOLGA2 NM_004486.4 0,1,6502 TT,TC,CC 0.0,0.0227,0.0077 131020236 1,13005 2203 4300 6503 SO:0001627 intron_variant L06147 CCDS6896.2 9q34.13 2010-06-28 2010-02-12 ENSG00000167110 ENSG00000167110 2801 4425 protein-coding gene gene with protein product Golgi matrix protein GM130, SY11 protein 602580 golgi autoantigen, golgin subfamily a, 2 NA 8315394 Standard NM_004486 NM_004486 NA Approved GM130, golgin-95 uc011maw.2 Q08379 OTTHUMG00000020732 ENST00000421699.2:c.2427+22G>A chr9.hg19:g.131020236C>T NA Q6GRM9|Q9BRB0|Q9NYF9 hg19 CCDS6896.2 0.02 8.407684 ACCxATG COVERED NOVEL GOLGA2-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054358.2 1 24.680133 KEEP 0 0 0 82 2907 CC 1 1 0 - 7 60 254 0 0 15.099065 226 60 8628 408 ENST00000421699.2 0.030043 1 ODF2 4957 __UNKNOWN__ __UNKNOWN__ 9 131247176 131247176 __UNKNOWN__ Intron SNP C C T rs4075146 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:131247176C>T ENST00000372807.5 + 10 1275 ODF2_ENST00000444119.2_Intron|ODF2_ENST00000434106.3_Intron|ODF2_ENST00000393527.3_Intron|ODF2_ENST00000393533.2_Intron|ODF2_ENST00000372791.3_Intron|ODF2_ENST00000604420.1_Intron|ODF2_ENST00000351030.3_Intron|ODF2_ENST00000546203.1_Intron|ODF2_ENST00000448249.3_Intron|ODF2_ENST00000372814.3_Intron Q5BJF6 ODFP2_HUMAN outer dense fiber of sperm tails 2 NA NA G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286) centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372) Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198) autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 37 GTCGCAGGCCCGCGGTGCCCA 0.647 NA T||| 1873 0.374002 0.4697 0.2536 5008 , , NA 17997 0.4782 NA 0.2455 False NA ,,, NA NA NA 2504 0.3548 NA NA NA NA 0 T ,,,,,,,,,, 2024,2382 599.3+/-389.2 448,1128,627 51 39 43 ,,,,,,,,,, -1.5 0 9 dbSNP_108 43 1735,6865 724.8+/-406.5 174,1387,2739 no intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron ODF2 NM_001242352.1,NM_001242353.1,NM_001242354.1,NM_002540.4,NM_153432.1,NM_153433.1,NM_153435.1,NM_153436.1,NM_153437.2,NM_153439.1,NM_153440.1 ,,,,,,,,,, 622,2515,3366 TT,TC,CC 20.1744,45.9374,28.902 ,,,,,,,,,, ,,,,,,,,,, 131247176 3759,9247 2203 4300 6503 SO:0001627 intron_variant AF012549 CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1 9q34 2010-04-23 2002-10-21 ENSG00000136811 ENSG00000136811 4957 8114 protein-coding gene gene with protein product cancer/testis antigen 134 602015 outer dense fibre of sperm tails 2 NA 9045620, 10072582 Standard NM_153435 NA Approved ODF84, CT134 uc004bvc.3 Q5BJF6 OTTHUMG00000020748 ENST00000372807.5:c.1275+11C>T chr9.hg19:g.131247176C>T NA B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2 hg19 CCDS56590.1 0.02 4.420928 GCCxGCG COVERED NOVEL ODF2-009 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054447.4 0 8.425077 KEEP 0 0 0 28 918 CC 0.999997 0.999989 0 + 5 60 187 0 0 12.278673 104 60 3422 146 ENST00000372807.5 0.045872 0.999992 SET 6418 __UNKNOWN__ __UNKNOWN__ 9 131455782 131455782 __UNKNOWN__ Intron SNP G G C rs117870739 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:131455782G>C ENST00000322030.8 + 6 849 SET_ENST00000372688.4_Intron|SET_ENST00000409104.3_Intron|SET_ENST00000477806.1_Intron|SET_ENST00000372692.4_Intron NM_003011.3 NP_003002.2 Q01105 SET_HUMAN SET nuclear proto-oncogene NA NA DNA replication (GO:0006260)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of catalytic activity (GO:0043086)|negative regulation of histone acetylation (GO:0035067)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|nucleosome disassembly (GO:0006337)|regulation of catalytic activity (GO:0050790)|RNA metabolic process (GO:0016070) cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234) DNA binding (GO:0003677)|histone binding (GO:0042393)|protein phosphatase inhibitor activity (GO:0004864)|protein phosphatase type 2A regulator activity (GO:0008601) endometrium(2)|kidney(1)|lung(2) 5 Myeloproliferative disorder(178;0.204) GBM - Glioblastoma multiforme(294;3.1e-09) ATTGCTCTTAGGTAATAATGG 0.343 NA T NUP214 AML G||| 99 0.0197684 0.0106 0.0 5008 , , NA 19312 0.0516 NA 0.003 False NA ,,, NA NA NA 2504 0.0307 NA NA NA Dom yes 9 9q34 6418 SET translocation L 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M93651 CCDS6907.1, CCDS48037.1, CCDS59149.1, CCDS59150.1 9q34 2014-06-25 2014-06-25 ENSG00000119335 ENSG00000119335 6418 10760 protein-coding gene gene with protein product protein phosphatase type 2A inhibitor, Template-Activating Factor-I, chromatin remodelling factor 600960 SET translocation (myeloid leukemia-associated) NA 1630450, 8626647 Standard NM_001122821 NM_003011 NA Approved PHAPII, 2PP2A, IPP2A2 uc022bol.1 Q01105 OTTHUMG00000020755 ENST00000322030.8:c.493-135G>C chr9.hg19:g.131455782G>C NA A5A5H4|A6NGV1|B4DUE2|Q15541|Q5VXV1|Q5VXV2|Q6FHZ5 hg19 CCDS6907.1 0.02 8.84427 TTAxGTA COVERED NOVEL SET-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054477.2 1 13.243153 KEEP 0 0 0 44 1573 GG 1 1 0 + 8 60 297 0 0 18.848599 197 60 7393 258 ENST00000322030.8 0.039024 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 131464674 131464674 __UNKNOWN__ IGR SNP A A C rs74493296 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:131464674A>C NA NA SET (5995 upstream) : PKN3 (127 downstream) NA NA NA AGCGCGTTAGAGGCGGGAGCC 0.617 NA A||| 100 0.0199681 0.0113 0.0 5008 , , NA 13669 0.0516 NA 0.003 False NA ,,, NA NA NA 2504 0.0307 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.131464674A>C NA hg19 0.02 -0.315718 TAGxGGC COVERED NOVEL 0 0 2.407031 KEEP 0 0 0 8 251 AA 0.99257 0.812384 0 4 60 155 0 0 12.007419 31 60 1088 50 0.114286 0.818465 TBC1D13 54662 __UNKNOWN__ __UNKNOWN__ 9 131554705 131554705 __UNKNOWN__ Intron SNP C C T rs3750322 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:131554705C>T ENST00000372648.5 + 6 450 TBC1D13_ENST00000539497.1_Intron|TBC1D13_ENST00000466056.1_Intron|TBC1D13_ENST00000223865.8_Intron NM_018201.3 NP_060671.3 Q9NVG8 TBC13_HUMAN TBC1 domain family, member 13 NA NA Rab GTPase activator activity (GO:0005097) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2) 6 CTCAGGTTTCCGGGATAGAAT 0.592 NA C||| 196 0.0391374 0.0378 0.0303 5008 , , NA 18319 0.0526 NA 0.0408 False NA ,,, NA NA NA 2504 0.0317 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK001605 CCDS6911.1, CCDS69677.1 9q34.13 2013-07-09 ENSG00000107021 ENSG00000107021 54662 25571 protein-coding gene gene with protein product NA 22762500 Standard NM_018201 XM_005252060 NA Approved FLJ10743 uc010myj.3 Q9NVG8 OTTHUMG00000020760 ENST00000372648.5:c.301-66C>T chr9.hg19:g.131554705C>T NA A7E2E7|B3KW04|B9EGJ8|Q5T270|Q5T271 hg19 CCDS6911.1 0.02 13.076594 TTCxGGG COVERED NOVEL TBC1D13-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054496.1 1 19.863371 KEEP 0 0 0 66 2241 CC 1 1 0 + 12 60 445 0 0 27.928523 313 60 11253 444 ENST00000372648.5 0.036923 1 TBC1D13 54662 __UNKNOWN__ __UNKNOWN__ 9 131570178 131570178 __UNKNOWN__ 3'UTR SNP T T C rs45609236 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:131570178T>C ENST00000372648.5 + 0 1373 TBC1D13_ENST00000539497.1_3'UTR|TBC1D13_ENST00000223865.8_3'UTR NM_018201.3 NP_060671.3 Q9NVG8 TBC13_HUMAN TBC1 domain family, member 13 NA NA Rab GTPase activator activity (GO:0005097) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2) 6 AAGAGGCCCATGTTCCGGAGA 0.602 NA T||| 2955 0.590056 0.3812 0.7622 5008 , , NA 16161 0.6647 NA 0.7266 False NA ,,, NA NA NA 2504 0.5327 NA NA NA NA 0 T 1968,2438 554.2+/-379.0 444,1080,679 47 49 49 2 0 9 dbSNP_127 49 6222,2378 700.1+/-405.1 2222,1778,300 no utr-3 TBC1D13 NM_018201.3 2666,2858,979 CC,CT,TT 27.6512,44.6664,37.0291 131570178 8190,4816 2203 4300 6503 SO:0001624 3_prime_UTR_variant AK001605 CCDS6911.1, CCDS69677.1 9q34.13 2013-07-09 ENSG00000107021 ENSG00000107021 54662 25571 protein-coding gene gene with protein product NA 22762500 Standard NM_018201 XM_005252060 NA Approved FLJ10743 uc010myj.3 Q9NVG8 OTTHUMG00000020760 ENST00000372648.5:c.*20T>C chr9.hg19:g.131570178T>C NA A7E2E7|B3KW04|B9EGJ8|Q5T270|Q5T271 hg19 CCDS6911.1 0.02 9.05381 CCAxGTT COVERED NOVEL TBC1D13-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054496.1 2 10.967948 KEEP 0 1 33 48 1513 TT 1 1 0 + 11 60 401 0 0 25.9858 228 60 8262 362 ENST00000372648.5 0.046025 1 TBC1D13 54662 __UNKNOWN__ __UNKNOWN__ 9 131571064 131571064 __UNKNOWN__ 3'UTR SNP C C T rs61396367 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:131571064C>T ENST00000372648.5 + 0 2259 TBC1D13_ENST00000539497.1_3'UTR|TBC1D13_ENST00000223865.8_3'UTR NM_018201.3 NP_060671.3 Q9NVG8 TBC13_HUMAN TBC1 domain family, member 13 NA NA Rab GTPase activator activity (GO:0005097) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2) 6 GGGAGTCCTCCGTGCCTCACT 0.582 NA C||| 338 0.067492 0.0734 0.0389 5008 , , NA 17792 0.0972 NA 0.0408 False NA ,,, NA NA NA 2504 0.0767 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK001605 CCDS6911.1, CCDS69677.1 9q34.13 2013-07-09 ENSG00000107021 ENSG00000107021 54662 25571 protein-coding gene gene with protein product NA 22762500 Standard NM_018201 XM_005252060 NA Approved FLJ10743 uc010myj.3 Q9NVG8 OTTHUMG00000020760 ENST00000372648.5:c.*906C>T chr9.hg19:g.131571064C>T NA A7E2E7|B3KW04|B9EGJ8|Q5T270|Q5T271 hg19 CCDS6911.1 0.02 10.847862 CTCxGTG COVERED NOVEL TBC1D13-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054496.1 0 9.665058 KEEP 0 1 28 42 1452 CC 1 1 0 + 10 60 342 0 0 21.068883 240 60 8360 359 ENST00000372648.5 0.04 1 TBC1D13 54662 __UNKNOWN__ __UNKNOWN__ 9 131571568 131571568 __UNKNOWN__ 3'UTR SNP C C T rs11999937 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:131571568C>T ENST00000372648.5 + 0 2763 TBC1D13_ENST00000539497.1_3'UTR|TBC1D13_ENST00000223865.8_3'UTR NM_018201.3 NP_060671.3 Q9NVG8 TBC13_HUMAN TBC1 domain family, member 13 NA NA Rab GTPase activator activity (GO:0005097) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2) 6 TGGCCACTCCCAGTTCTCACC 0.642 NA C||| 338 0.067492 0.0734 0.0389 5008 , , NA 18421 0.0972 NA 0.0408 False NA ,,, NA NA NA 2504 0.0767 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK001605 CCDS6911.1, CCDS69677.1 9q34.13 2013-07-09 ENSG00000107021 ENSG00000107021 54662 25571 protein-coding gene gene with protein product NA 22762500 Standard NM_018201 XM_005252060 NA Approved FLJ10743 uc010myj.3 Q9NVG8 OTTHUMG00000020760 ENST00000372648.5:c.*1410C>T chr9.hg19:g.131571568C>T NA A7E2E7|B3KW04|B9EGJ8|Q5T270|Q5T271 hg19 CCDS6911.1 0.02 22.696938 TCCxAGT COVERED NOVEL TBC1D13-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054496.1 2 26.787595 KEEP 0 0 0 89 3183 CC 1 1 0 + 18 60 639 0 1 37.853197 549 60 21031 840 ENST00000372648.5 0.031746 1 TBC1D13 54662 __UNKNOWN__ __UNKNOWN__ 9 131572027 131572027 __UNKNOWN__ 3'UTR SNP G G A rs15676 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:131572027G>A ENST00000372648.5 + 0 3222 TBC1D13_ENST00000539497.1_3'UTR|TBC1D13_ENST00000223865.8_3'UTR NM_018201.3 NP_060671.3 Q9NVG8 TBC13_HUMAN TBC1 domain family, member 13 NA NA Rab GTPase activator activity (GO:0005097) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2) 6 CCTGGTTTTCGAGCAGGTCCT 0.507 NA C||| 2612 0.521565 0.1694 0.745 5008 , , NA 20454 0.6429 NA 0.7127 False NA ,,, NA NA NA 2504 0.5174 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK001605 CCDS6911.1, CCDS69677.1 9q34.13 2013-07-09 ENSG00000107021 ENSG00000107021 54662 25571 protein-coding gene gene with protein product NA 22762500 Standard NM_018201 XM_005252060 NA Approved FLJ10743 uc010myj.3 Q9NVG8 OTTHUMG00000020760 ENST00000372648.5:c.*1869G>A chr9.hg19:g.131572027G>A NA A7E2E7|B3KW04|B9EGJ8|Q5T270|Q5T271 hg19 CCDS6911.1 0.02 8.404224 TTCxAGC COVERED NOVEL TBC1D13-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054496.1 4 9.66439 KEEP 0 1 31 43 1414 GG 1 1 0 + 8 60 281 0 0 16.629351 237 60 8231 333 ENST00000372648.5 0.032653 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 131580744 131580744 __UNKNOWN__ IGR SNP C C T rs2997922 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:131580744C>T NA NA TBC1D13 (8033 upstream) : ENDOG (8 downstream) NA NA NA CCCCTCATACCGGCGTCTTAA 0.662 NA OREG0019524 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) C||| 2600 0.519169 0.1694 0.7406 5008 , , NA 12650 0.6399 NA 0.7058 False NA ,,, NA NA NA 2504 0.5184 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.131580744C>T 1588 hg19 0.02 4.338965 TACxGGC COVERED NOVEL 0 2 26.217692 KEEP 0 1 28 97 3351 CC 1 1 0 6 60 231 0 0 15.191176 135 60 4732 309 0.042553 1 C9orf114 51490 __UNKNOWN__ __UNKNOWN__ 9 131582110 131582110 __UNKNOWN__ 3'UTR SNP G G A rs56778081 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:131582110G>A ENST00000361256.5 - 0 4105 ENDOG_ENST00000372642.4_Intron NM_016390.3 NP_057474.2 Q5T280 CI114_HUMAN chromosome 9 open reading frame 114 NA NA poly(A) RNA binding (GO:0044822) kidney(2)|large_intestine(4)|ovary(1) 7 aaagaagcgcgcaacctcctc 0.552 NA G||| 417 0.0832668 0.1346 0.0432 5008 , , NA 16180 0.0933 NA 0.0408 False NA ,,, NA NA NA 2504 0.0757 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS6913.1 9q34.11 2014-05-29 ENSG00000198917 ENSG00000198917 51490 26933 protein-coding gene gene with protein product centromere protein 32 NA 20813266 Standard NM_016390 NM_016390 NA Approved HSPC109, CENP-32 uc004bwd.3 Q5T280 OTTHUMG00000020762 ENST00000361256.5:c.*2934C>T chr9.hg19:g.131582110G>A NA Q0D2P6|Q6P469|Q6PGP9|Q6PIJ1|Q6PJV9 hg19 CCDS6913.1 0.02 3.954177 CGCxCAA COVERED NOVEL C9orf114-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054500.1 4 27.086625 KEEP 0 0 0 90 3073 GG 1 1 0 - 7 60 233 0 0 14.861393 121 60 4053 294 ENST00000361256.5 0.054687 1 C9orf114 51490 __UNKNOWN__ __UNKNOWN__ 9 131582625 131582625 __UNKNOWN__ 3'UTR SNP G G A rs2977996 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:131582625G>A ENST00000361256.5 - 0 3590 ENDOG_ENST00000372642.4_Intron NM_016390.3 NP_057474.2 Q5T280 CI114_HUMAN chromosome 9 open reading frame 114 NA NA poly(A) RNA binding (GO:0044822) kidney(2)|large_intestine(4)|ovary(1) 7 TCGATTCATGGCATTCCCCGC 0.602 NA A||| 3019 0.602835 0.3041 0.7853 5008 , , NA 18691 0.7341 NA 0.7455 False NA ,,, NA NA NA 2504 0.5951 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS6913.1 9q34.11 2014-05-29 ENSG00000198917 ENSG00000198917 51490 26933 protein-coding gene gene with protein product centromere protein 32 NA 20813266 Standard NM_016390 NM_016390 NA Approved HSPC109, CENP-32 uc004bwd.3 Q5T280 OTTHUMG00000020762 ENST00000361256.5:c.*2419C>T chr9.hg19:g.131582625G>A NA Q0D2P6|Q6P469|Q6PGP9|Q6PIJ1|Q6PJV9 hg19 CCDS6913.1 0.02 8.62244 ATGxCAT COVERED NOVEL C9orf114-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054500.1 1 7.931338 KEEP 0 3 96 60 2149 GG 1 1 0 - 8 60 293 0 0 18.200888 212 60 7874 357 ENST00000361256.5 0.036364 1 C9orf114 51490 __UNKNOWN__ __UNKNOWN__ 9 131583170 131583170 __UNKNOWN__ 3'UTR SNP T T C rs2280845 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:131583170T>C ENST00000361256.5 - 0 3045 ENDOG_ENST00000372642.4_Intron NM_016390.3 NP_057474.2 Q5T280 CI114_HUMAN chromosome 9 open reading frame 114 NA NA poly(A) RNA binding (GO:0044822) kidney(2)|large_intestine(4)|ovary(1) 7 CCCACTCACCTGAGGCCCCTA 0.602 NA C||| 3012 0.601438 0.3033 0.7853 5008 , , NA 15779 0.7272 NA 0.7465 False NA ,,, NA NA NA 2504 0.5951 NA NA NA NA 0 C 1627,2759 336,955,902 34 29 31 0.6 0 9 dbSNP_100 31 6407,2165 2418,1571,297 no intron ENDOG NM_004435.2 2754,2526,1199 CC,CT,TT 25.2566,37.0953,37.9997 131583170 8034,4924 2193 4286 6479 SO:0001624 3_prime_UTR_variant CCDS6913.1 9q34.11 2014-05-29 ENSG00000198917 ENSG00000198917 51490 26933 protein-coding gene gene with protein product centromere protein 32 NA 20813266 Standard NM_016390 NM_016390 NA Approved HSPC109, CENP-32 uc004bwd.3 Q5T280 OTTHUMG00000020762 ENST00000361256.5:c.*1874A>G chr9.hg19:g.131583170T>C NA Q0D2P6|Q6P469|Q6PGP9|Q6PIJ1|Q6PJV9 hg19 CCDS6913.1 0.02 4.244576 ACCxGAG COVERED NOVEL C9orf114-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054500.1 1 4.506851 KEEP 0 1 34 27 783 TT 0.999997 0.999997 0 - 6 60 206 0 0 12.933803 123 60 4407 170 ENST00000361256.5 0.046512 1 ENDOG 2021 __UNKNOWN__ __UNKNOWN__ 9 131584631 131584631 __UNKNOWN__ Silent SNP C C T rs2280844 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:131584631C>T ENST00000372642.4 + 3 847 c.636C>T c.(634-636)taC>taT p.Y212Y C9orf114_ENST00000361256.5_3'UTR NM_004435.2 NP_004426.2 Q14249 NUCG_HUMAN endonuclease G 212 NA apoptotic DNA fragmentation (GO:0006309)|DNA recombination (GO:0006310)|in utero embryonic development (GO:0001701)|positive regulation of apoptotic process (GO:0043065)|response to antibiotic (GO:0046677)|response to tumor necrosis factor (GO:0034612) mitochondrion (GO:0005739) endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|nuclease activity (GO:0004518)|nucleic acid binding (GO:0003676) NA GGAAATCCTACGTAAAGTACC 0.592 NA C||| 417 0.0832668 0.1346 0.0432 5008 , , NA 19734 0.0933 NA 0.0408 False NA ,,, NA NA NA 2504 0.0757 NA NA NA NA 0 C , 503,3903 228.5+/-243.3 35,433,1735 80 72 75 636, -10.4 0.4 9 dbSNP_100 75 337,8263 115.2+/-175.0 6,325,3969 no coding-synonymous,utr-3 ENDOG,C9orf114 NM_004435.2,NM_016390.2 , 41,758,5704 TT,TC,CC 3.9186,11.4163,6.4586 , 212/298, 131584631 840,12166 2203 4300 6503 SO:0001819 synonymous_variant X79444 CCDS6912.1 9q34.1 2008-06-04 ENSG00000167136 ENSG00000167136 2021 3346 protein-coding gene gene with protein product 600440 NA 7789991 Standard NM_004435 NM_004435 NA Approved uc004bwc.3 Q14249 OTTHUMG00000020763 ENST00000372642.4:c.636C>T chr9.hg19:g.131584631C>T NA Q5T281|Q9BSP2 hg19 CCDS6912.1 0.02 10.510014 CTAxGTA COVERED NOVEL ENDOG-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054505.1 4 18.660316 KEEP 0 0 0 62 2144 CC 1 1 0 + 10 60 366 0 0 22.692842 267 60 9602 414 ENST00000372642.4 0.036101 1 C9orf114 51490 __UNKNOWN__ __UNKNOWN__ 9 131585069 131585069 __UNKNOWN__ Missense_Mutation SNP A A G rs2280843 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:131585069A>G ENST00000361256.5 - 12 1146 c.1106T>C c.(1105-1107)aTc>aCc p.I369T NM_016390.3 NP_057474.2 Q5T280 CI114_HUMAN chromosome 9 open reading frame 114 369 NA I -> T (in dbSNP:rs2280843). {ECO:0000269|PubMed:15489334}. poly(A) RNA binding (GO:0044822) kidney(2)|large_intestine(4)|ovary(1) 7 ACCCGCCTGGATGAGGCCAGG 0.667 NA G||| 3024 0.603834 0.3086 0.7853 5008 , , NA 17123 0.7331 NA 0.7465 False NA ,,, NA NA NA 2504 0.5941 NA NA NA NA 0 G THR/ILE 1655,2733 340,975,879 32 32 32 1106 -0.3 0 9 dbSNP_100 32 6411,2169 2405,1601,284 yes missense C9orf114 NM_016390.2 89 2745,2576,1163 GG,GA,AA 25.2797,37.7165,37.8007 benign 369/377 131585069 8066,4902 2194 4290 6484 SO:0001583 missense CCDS6913.1 9q34.11 2014-05-29 ENSG00000198917 ENSG00000198917 51490 26933 protein-coding gene gene with protein product centromere protein 32 NA 20813266 Standard NM_016390 NM_016390 NA Approved HSPC109, CENP-32 uc004bwd.3 Q5T280 OTTHUMG00000020762 ENST00000361256.5:c.1106T>C chr9.hg19:g.131585069A>G ENSP00000354812:p.Ile369Thr NA Q0D2P6|Q6P469|Q6PGP9|Q6PIJ1|Q6PJV9 hg19 CCDS6913.1 0.02 9.2909 TGGxTGA COVERED 1478|1478 0.6767399267399268|0.6767399267399268 172|172 0.34959349593495936|0.34959349593495936 280|280 0.7734806629834254|0.7734806629834254 428|428 0.7482517482517482|0.7482517482517482 598|598 0.7889182058047494|0.7889182058047494 G|G 2.173|2.173 -0.389315|-0.389315 0.04932|0.04932 0.377165|0.377165 0.747203|0.747203 ENSG00000198917|ENSG00000198917 ENST00000361256|ENST00000372618 T|. 0.21191|. 2.02|. 4.91|4.91 -0.317|-0.317 0.12736|0.12736 .|. .|1.374930 .|0.04359 .|N .|0.357119 T|T 0.00012|0.00012 0.0000|0.0000 N|N 0.00538|0.00538 -1.39|-1.39 0.80722|0.80722 P|P 0.0|0.0 B|B 0.02656|0.02656 0.0|0.0 B|B 0.01281|0.01281 0.0|0.0 T|T 0.35351|0.35351 -0.9792|-0.9792 8|8 0.08381|0.25106 T|T 0.77|0.35 0.0847|0.0847 0.4741|0.4741 0.00536|0.00536 0.3146:0.1263:0.3008:0.2583|0.3146:0.1263:0.3008:0.2583 rs2280843;rs17846546;rs17859621;rs57565435;rs2280843|rs2280843;rs17846546;rs17859621;rs57565435;rs2280843 369|368 Q5T280|E7ESY7 CI114_HUMAN|. T|P 369|368 ENSP00000354812:I369T|. ENSP00000354812:I369T|ENSP00000361701:S368P I|S -|- 2|1 0|0 C9orf114|C9orf114 130624890|130624890 0.003000|0.003000 0.15002|0.15002 0.033000|0.033000 0.17914|0.17914 0.119000|0.119000 0.20118|0.20118 -0.084000|-0.084000 0.11268|0.11268 -0.209000|-0.209000 0.10156|0.10156 -1.476000|-1.476000 0.00998|0.00998 ATC|TCC NOVEL C9orf114-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054500.1 0 14.14068 KEEP 0 0 0 47 1419 AA 1 1 0 - 11 60 415 0 0 27.968794 201 60 7244 288 ENST00000361256.5 0.051887 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 131592150 131592150 __UNKNOWN__ IGR SNP A A G rs2293964 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:131592150A>G NA NA C9orf114 (50 upstream) : CCBL1 (3241 downstream) NA NA NA GAGAGCCAATATCGCCCAGGG 0.652 NA G||| 417 0.0832668 0.1346 0.0432 5008 , , NA 13964 0.0933 NA 0.0408 False NA ,,, NA NA NA 2504 0.0757 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.131592150A>G NA hg19 0.02 14.369735 AATxTCG COVERED NOVEL 0 6 31.272823 KEEP 0 0 0 104 3008 AA 1 1 0 12 60 398 0 0 22.414027 371 60 12216 676 0.031332 1 CCBL1 883 __UNKNOWN__ __UNKNOWN__ 9 131599311 131599311 __UNKNOWN__ Intron SNP G G A rs2997903 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:131599311G>A ENST00000302586.3 - 7 730 CCBL1_ENST00000320665.6_Intron|CCBL1_ENST00000436267.2_Intron|CCBL1_ENST00000483599.1_Intron NM_001122671.1|NM_004059.4 NP_001116143.1|NP_004050.3 Q16773 KAT1_HUMAN cysteine conjugate-beta lyase, cytoplasmic NA NA cellular amino acid biosynthetic process (GO:0008652)|cellular modified amino acid metabolic process (GO:0006575)|cellular nitrogen compound metabolic process (GO:0034641)|kynurenine metabolic process (GO:0070189)|L-kynurenine catabolic process (GO:0097053)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634) cysteine-S-conjugate beta-lyase activity (GO:0047804)|glutamine-phenylpyruvate transaminase activity (GO:0047316)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|L-glutamine:pyruvate aminotransferase activity (GO:0047945)|L-phenylalanine-oxaloacetate transaminase activity (GO:0036141)|L-phenylalanine:pyruvate aminotransferase activity (GO:0047312)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1) 18 L-Glutamine(DB00130) ggtggctcacgcctgtaatcc 0.592 NA G||| 440 0.0878594 0.093 0.0648 5008 , , NA 18468 0.0933 NA 0.0934 False NA ,,, NA NA NA 2504 0.0859 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Y17448 CCDS43884.1, CCDS48038.1, CCDS75915.1 9q34.11 2008-03-11 2008-03-11 ENSG00000171097 ENSG00000171097 883 2.6.1.64 1564 protein-coding gene gene with protein product glutamine transaminase K, kyneurenine aminotransferase 600547 cysteine conjugate-beta lyase; cytoplasmic (glutamine transaminase K, kyneurenine aminotransferase) NA 7883047 Standard NM_001122671 NA Approved KATI, GTK uc004bwh.3 Q16773 OTTHUMG00000020767 ENST00000302586.3:c.568-110C>T chr9.hg19:g.131599311G>A NA Q5T275|Q8N191 hg19 CCDS43884.1 0.02 1.960337 CACxCCT COVERED NOVEL CCBL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054521.2 5 4.93024 KEEP 1 1 30 27 924 GG 0.999988 0.999547 0 - 4 60 142 0 0 9.172436 78 60 2839 129 ENST00000302586.3 0.04878 0.999559 CCBL1 883 __UNKNOWN__ __UNKNOWN__ 9 131600111 131600111 __UNKNOWN__ Intron SNP T T C rs2280841 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:131600111T>C ENST00000302586.3 - 6 601 CCBL1_ENST00000320665.6_Intron|CCBL1_ENST00000436267.2_Intron|CCBL1_ENST00000483599.1_Intron NM_001122671.1|NM_004059.4 NP_001116143.1|NP_004050.3 Q16773 KAT1_HUMAN cysteine conjugate-beta lyase, cytoplasmic NA NA cellular amino acid biosynthetic process (GO:0008652)|cellular modified amino acid metabolic process (GO:0006575)|cellular nitrogen compound metabolic process (GO:0034641)|kynurenine metabolic process (GO:0070189)|L-kynurenine catabolic process (GO:0097053)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634) cysteine-S-conjugate beta-lyase activity (GO:0047804)|glutamine-phenylpyruvate transaminase activity (GO:0047316)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|L-glutamine:pyruvate aminotransferase activity (GO:0047945)|L-phenylalanine-oxaloacetate transaminase activity (GO:0036141)|L-phenylalanine:pyruvate aminotransferase activity (GO:0047312)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1) 18 L-Glutamine(DB00130) GCAGGTGGCATGGGGTGGTAC 0.592 NA C||| 3002 0.599441 0.2935 0.7853 5008 , , NA 19669 0.7331 NA 0.7445 False NA ,,, NA NA NA 2504 0.5941 NA NA NA NA 0 C ,, 1546,2518 309,928,795 56 59 58 ,, -1 0 9 dbSNP_100 58 6246,2090 2331,1584,253 no intron,intron,intron CCBL1 NM_001122671.1,NM_001122672.1,NM_004059.4 ,, 2640,2512,1048 CC,CT,TT 25.072,38.0413,37.1613 ,, ,, 131600111 7792,4608 2032 4168 6200 SO:0001627 intron_variant Y17448 CCDS43884.1, CCDS48038.1, CCDS75915.1 9q34.11 2008-03-11 2008-03-11 ENSG00000171097 ENSG00000171097 883 2.6.1.64 1564 protein-coding gene gene with protein product glutamine transaminase K, kyneurenine aminotransferase 600547 cysteine conjugate-beta lyase; cytoplasmic (glutamine transaminase K, kyneurenine aminotransferase) NA 7883047 Standard NM_001122671 NA Approved KATI, GTK uc004bwh.3 Q16773 OTTHUMG00000020767 ENST00000302586.3:c.439-19A>G chr9.hg19:g.131600111T>C NA Q5T275|Q8N191 hg19 CCDS43884.1 0.02 6.243804 GCAxGGG COVERED NOVEL CCBL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054521.2 1 6.553039 KEEP 0 1 38 35 1043 TT 0.999999 0.999999 0 - 11 60 370 0 0 24.803435 151 60 5524 241 ENST00000302586.3 0.067901 1 CCBL1 883 __UNKNOWN__ __UNKNOWN__ 9 131620709 131620709 __UNKNOWN__ Intron SNP G G A rs151338736 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:131620709G>A ENST00000302586.3 - 2 157 CCBL1_ENST00000320665.6_Intron|CCBL1_ENST00000436267.2_Intron|CCBL1_ENST00000483599.1_Intron NM_001122671.1|NM_004059.4 NP_001116143.1|NP_004050.3 Q16773 KAT1_HUMAN cysteine conjugate-beta lyase, cytoplasmic NA NA cellular amino acid biosynthetic process (GO:0008652)|cellular modified amino acid metabolic process (GO:0006575)|cellular nitrogen compound metabolic process (GO:0034641)|kynurenine metabolic process (GO:0070189)|L-kynurenine catabolic process (GO:0097053)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634) cysteine-S-conjugate beta-lyase activity (GO:0047804)|glutamine-phenylpyruvate transaminase activity (GO:0047316)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|L-glutamine:pyruvate aminotransferase activity (GO:0047945)|L-phenylalanine-oxaloacetate transaminase activity (GO:0036141)|L-phenylalanine:pyruvate aminotransferase activity (GO:0047312)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1) 18 L-Glutamine(DB00130) gggcatggtggctcatacctg 0.488 NA g||| 247 0.0493211 0.0794 0.0331 5008 , , NA 11604 0.0476 NA 0.0388 False NA ,,, NA NA NA 2504 0.0327 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Y17448 CCDS43884.1, CCDS48038.1, CCDS75915.1 9q34.11 2008-03-11 2008-03-11 ENSG00000171097 ENSG00000171097 883 2.6.1.64 1564 protein-coding gene gene with protein product glutamine transaminase K, kyneurenine aminotransferase 600547 cysteine conjugate-beta lyase; cytoplasmic (glutamine transaminase K, kyneurenine aminotransferase) NA 7883047 Standard NM_001122671 NA Approved KATI, GTK uc004bwh.3 Q16773 OTTHUMG00000020767 ENST00000302586.3:c.6-13019C>T chr9.hg19:g.131620709G>A NA Q5T275|Q8N191 hg19 CCDS43884.1 0.02 -0.017547 GTGxCTC UNCOVERED NOVEL CCBL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054521.2 2 3.009437 KEEP 2 0 0 10 340 GG 0.99257 0 0 - 2 51 75 0 0 8.454079 0 0 0 13 ENST00000302586.3 1 0 LRRC8A 56262 __UNKNOWN__ __UNKNOWN__ 9 131679892 131679892 __UNKNOWN__ 3'UTR SNP C C T rs9031 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:131679892C>T ENST00000259324.5 + 0 4198 LRRC8A_ENST00000372600.4_3'UTR|LRRC8A_ENST00000372599.3_3'UTR NM_001127244.1 NP_001120716.1 Q8IWT6 LRC8A_HUMAN leucine rich repeat containing 8 family, member A NA NA anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970) cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3) 28 TCCATCAGCCCTGTCACCACC 0.637 NA C||| 2563 0.511781 0.0787 0.7089 5008 , , NA 18832 0.6429 NA 0.7217 False NA ,,, NA NA NA 2504 0.6063 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB037858 CCDS35155.1 9q34.2 2014-09-17 2005-06-29 2005-06-29 ENSG00000136802 ENSG00000136802 56262 19027 protein-coding gene gene with protein product 608360 leucine rich repeat containing 8 LRRC8 NA Standard NM_019594 NM_001127244 NA Approved KIAA1437, FLJ10337 uc010myp.3 Q8IWT6 OTTHUMG00000020766 ENST00000259324.5:c.*1242C>T chr9.hg19:g.131679892C>T NA Q6UXM2|Q8NCI0|Q9P2B1 hg19 CCDS35155.1 0.02 13.787628 GCCxTGT COVERED NOVEL LRRC8A-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054516.2 1 46.882594 KEEP 0 4 126 200 7193 CC 1 1 0 + 25 60 899 0 0 63.225174 310 60 11597 698 ENST00000259324.5 0.074627 1 NUP188 23511 __UNKNOWN__ __UNKNOWN__ 9 131764014 131764014 __UNKNOWN__ Intron SNP A A C rs12336276 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:131764014A>C ENST00000372577.2 + 35 4065 NM_015354.1 NP_056169.1 Q5SRE5 NU188_HUMAN nucleoporin 188kDa NA NA carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032) membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643) breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 60 AGCAGGTAGGAGGCCAGCCCG 0.587 NA A||| 1224 0.244409 0.3812 0.1023 5008 , , NA 22711 0.3244 NA 0.0835 False NA ,,, NA NA NA 2504 0.2434 NA NA NA NA 0 A 1466,2940 456.7+/-351.4 211,1044,948 31 27 28 -1.8 0 9 dbSNP_120 28 758,7842 173.3+/-223.8 30,698,3572 no intron NUP188 NM_015354.1 241,1742,4520 CC,CA,AA 8.814,33.2728,17.0998 131764014 2224,10782 2203 4300 6503 SO:0001627 intron_variant D79991 CCDS35156.1 9q34.13 2014-01-28 2004-03-19 2004-03-24 ENSG00000095319 ENSG00000095319 23511 17859 protein-coding gene gene with protein product 615587 KIAA0169 KIAA0169 NA 11029043 Standard NM_015354 NA Approved uc004bws.2 Q5SRE5 OTTHUMG00000020768 ENST00000372577.2:c.4044+6A>C chr9.hg19:g.131764014A>C NA Q14675|Q2TA87|Q7Z3K8|Q8IWF1 hg19 CCDS35156.1 0.02 4.505754 AGGxGGC COVERED NOVEL NUP188-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054529.2 4 3.609505 KEEP 0 0 0 12 352 AA 0.993634 0.993633 0 + 6 60 218 0 0 14.278672 116 60 4165 143 ENST00000372577.2 0.04918 0.999999 DOLPP1 57171 __UNKNOWN__ __UNKNOWN__ 9 131849036 131849036 __UNKNOWN__ Silent SNP C C T rs7046961 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:131849036C>T ENST00000372546.4 + 7 671 c.639C>T c.(637-639)aaC>aaT p.N213N DOLPP1_ENST00000406974.3_Silent_p.N170N|DOLPP1_ENST00000540102.1_Silent_p.N72N NM_020438.4 NP_065171.2 Q86YN1 DOPP1_HUMAN dolichyldiphosphatase 1 213 NA cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|lipid biosynthetic process (GO:0008610)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279) endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176) dolichyldiphosphatase activity (GO:0047874) endometrium(3)|kidney(2)|lung(7)|skin(1) 13 TCATTCCCAACGTACTCTGGT 0.577 NA C||| 329 0.0656949 0.1014 0.0346 5008 , , NA 18946 0.1141 NA 0.004 False NA ,,, NA NA NA 2504 0.0532 NA NA NA NA 0 C , 371,4035 188.5+/-214.9 17,337,1849 134 114 121 510,639 -8.3 0.2 9 dbSNP_116 121 61,8539 37.4+/-92.8 0,61,4239 no coding-synonymous,coding-synonymous DOLPP1 NM_001135917.1,NM_020438.4 , 17,398,6088 TT,TC,CC 0.7093,8.4203,3.3215 , 170/196,213/239 131849036 432,12574 2203 4300 6503 SO:0001819 synonymous_variant BC009493 CCDS6918.1, CCDS48039.1 9q34.1 2013-05-21 2013-05-21 ENSG00000167130 ENSG00000167130 57171 3.6.1.43 29565 protein-coding gene gene with protein product linked to Surfeit genes in Fugu rubripes 2 614516 dolichyl pyrophosphate phosphatase 1 NA 10369878, 12198133 Standard NM_020438 NM_020438 NA Approved LSFR2 uc004bxc.3 Q86YN1 OTTHUMG00000020771 ENST00000372546.4:c.639C>T chr9.hg19:g.131849036C>T NA A8K3U8|B0QZG4|Q96GF8|Q9Y3G1 hg19 CCDS6918.1 0.02 8.202389 CAAxGTA COVERED NOVEL DOLPP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054548.4 2 20.766166 KEEP 0 0 0 69 2354 CC 1 1 0 + 7 60 247 0 0 14.707339 204 60 7003 346 ENST00000372546.4 0.033175 1 CRAT 1384 __UNKNOWN__ __UNKNOWN__ 9 131857630 131857630 __UNKNOWN__ 3'UTR SNP C C T rs2229419 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:131857630C>T ENST00000318080.2 - 0 2221 NM_000755.3|NM_001257363.1 NP_000746|NP_001244292.1 P43155 CACP_HUMAN carnitine O-acetyltransferase NA NA carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|transport (GO:0006810) endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777) carnitine O-acetyltransferase activity (GO:0004092)|receptor binding (GO:0005102) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2) 13 UCEC - Uterine corpus endometrioid carcinoma (4;0.0178) L-Carnitine(DB00583) TGGCCCATCCCAGGGTGGGCT 0.662 NA C||| 1890 0.377396 0.5356 0.353 5008 , , NA 17089 0.3631 NA 0.2535 False NA ,,, NA NA NA 2504 0.3231 NA NA NA NA 0 C 2187,2207 560,1067,570 17 20 19 1.6 0 9 dbSNP_98 19 2490,6074 388,1714,2180 no utr-3 CRAT NM_000755.3 948,2781,2750 TT,TC,CC 29.0752,49.7724,36.0935 131857630 4677,8281 2197 4282 6479 SO:0001624 3_prime_UTR_variant X78706 CCDS6919.1 9q34.1 2010-04-27 2010-04-27 ENSG00000095321 ENSG00000095321 1384 2.3.1.7 2342 protein-coding gene gene with protein product 600184 carnitine acetyltransferase NA 7829107 Standard NM_000755 NA Approved CAT1 uc004bxh.3 P43155 OTTHUMG00000147343 ENST00000318080.2:c.*46G>A chr9.hg19:g.131857630C>T NA Q5T952|Q9BW16 hg19 CCDS6919.1 0.02 6.521631 TCCxAGG COVERED NOVEL CRAT-006 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253700.1 0 9.363879 KEEP 0 1 31 42 1459 CC 1 1 0 - 8 60 286 0 0 18.788465 145 60 5421 229 ENST00000318080.2 0.052288 1 C9orf106 414318 __UNKNOWN__ __UNKNOWN__ 9 132084621 132084621 __UNKNOWN__ RNA SNP G G A rs913770 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:132084621G>A ENST00000316786.1 + 0 582 Q8NAJ2 CI106_HUMAN chromosome 9 open reading frame 106 NA NA large_intestine(1)|lung(1)|ovary(1)|skin(1) 4 Ovarian(14;0.00556)|Medulloblastoma(224;0.235) GATGCCCGGGGGACACTGCCC 0.592 NA G||| 940 0.1877 0.4183 0.1167 5008 , , NA 20687 0.1538 NA 0.0507 False NA ,,, NA NA NA 2504 0.1022 NA NA NA NA 0 G ARG/GLY 1424,2536 233,958,789 41 45 44 529 -1.1 0 9 dbSNP_86 44 392,7934 5,382,3776 yes missense C9orf106 NM_001012715.3 125 238,1340,4565 AA,AG,GG 4.7081,35.9596,14.7811 benign 177/233 132084621 1816,10470 1980 4163 6143 AK092588 9q34.11 2013-12-05 2013-12-05 2013-12-05 ENSG00000179082 ENSG00000179082 414318 31370 other unknown NA Standard NM_001012715 NA Approved bA65J3.5 uc004bxs.2 Q8NAJ2 OTTHUMG00000020781 ENST00000316786.1: chr9.hg19:g.132084621G>A NA hg19 0.02 13.117945 GGGxGAC COVERED NOVEL C9orf106-001 KNOWN basic processed_transcript NA processed_transcript OTTHUMT00000054576.2 0 30.398303 KEEP 0 0 0 101 3548 GG 1 1 0 + 12 60 448 0 0 28.121041 320 60 11476 532 ENST00000316786.1 0.036145 1 C9orf50 375759 __UNKNOWN__ __UNKNOWN__ 9 132374601 132374601 __UNKNOWN__ 3'UTR SNP C C A rs78833435 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:132374601C>A ENST00000372478.4 - 0 1522 NTMT1_ENST00000372486.1_Intron NM_199350.3 NP_955382.3 Q5SZB4 CI050_HUMAN chromosome 9 open reading frame 50 NA NA central_nervous_system(1)|endometrium(4)|large_intestine(2)|ovary(1)|skin(1)|urinary_tract(1) 10 Ovarian(14;0.00556) CCCATGTGTGCCCCTGGCCTT 0.602 NA c||| 855 0.170727 0.0121 0.2911 5008 , , NA 19683 0.2937 NA 0.1779 False NA ,,, NA NA NA 2504 0.1656 NA NA NA NA 0 172,4234 109.5+/-147.8 3,166,2034 75 54 61 -2.9 0 9 dbSNP_132 61 1221,7379 237.6+/-269.4 76,1069,3155 no utr-3 C9orf50 NM_199350.3 79,1235,5189 AA,AC,CC 14.1977,3.9038,10.7104 132374601 1393,11613 2203 4300 6503 SO:0001624 3_prime_UTR_variant AK093122 CCDS35159.1 9q34.2 2012-03-15 ENSG00000179058 ENSG00000179058 375759 23677 protein-coding gene gene with protein product NA Standard NM_199350 NM_199350 NA Approved FLJ35803 uc004byc.4 Q5SZB4 OTTHUMG00000020786 ENST00000372478.4:c.*25G>T chr9.hg19:g.132374601C>A NA Q2M1I2|Q8NA65 hg19 CCDS35159.1 0.02 10.614668 GTGxCCC COVERED NOVEL C9orf50-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054593.1 0 23.744544 KEEP 0 0 0 79 2763 CC 1 1 0 - 17 60 601 0 0 41.135906 237 60 8668 434 ENST00000372478.4 0.066929 1 C9orf50 375759 __UNKNOWN__ __UNKNOWN__ 9 132375432 132375432 __UNKNOWN__ Missense_Mutation SNP C C T rs2302779 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:132375432C>T ENST00000372478.4 - 6 1343 c.1142G>A c.(1141-1143)cGa>cAa p.R381Q NTMT1_ENST00000372486.1_Intron NM_199350.3 NP_955382.3 Q5SZB4 CI050_HUMAN chromosome 9 open reading frame 50 381 NA R -> Q (in dbSNP:rs2302779). central_nervous_system(1)|endometrium(4)|large_intestine(2)|ovary(1)|skin(1)|urinary_tract(1) 10 Ovarian(14;0.00556) GAGGCTGCTTCGCGGCCTCTG 0.602 NA C||| 1064 0.21246 0.1483 0.2637 5008 , , NA 18459 0.2937 NA 0.1869 False NA ,,, NA NA NA 2504 0.2055 NA NA NA NA 0 C GLN/ARG 669,3737 274.9+/-272.2 54,561,1588 36 37 36 1142 0 0 9 dbSNP_100 36 1212,7388 237.2+/-269.1 80,1052,3168 yes missense C9orf50 NM_199350.3 43 134,1613,4756 TT,TC,CC 14.093,15.1838,14.4626 probably-damaging 381/432 132375432 1881,11125 2203 4300 6503 SO:0001583 missense AK093122 CCDS35159.1 9q34.2 2012-03-15 ENSG00000179058 ENSG00000179058 375759 23677 protein-coding gene gene with protein product NA Standard NM_199350 NM_199350 NA Approved FLJ35803 uc004byc.4 Q5SZB4 OTTHUMG00000020786 ENST00000372478.4:c.1142G>A chr9.hg19:g.132375432C>T ENSP00000361556:p.Arg381Gln NA Q2M1I2|Q8NA65 hg19 CCDS35159.1 0.02 4.147627 CTTxGCG COVERED 454 0.2078754578754579 71 0.1443089430894309 77 0.212707182320442 160 0.27972027972027974 146 0.19261213720316622 C 15.01 2.706789 0.48412 0.151838 0.14093 ENSG00000179058 ENST00000372478 T 0.23147 1.92 3.59 0.0128 0.14093 . 0.237083 0.21078 N 0.080535 T 0.00012 0.0000 N 0.17082 0.46 0.80722 P 0.0 P 0.42161 0.772 B 0.25506 0.061 T 0.47328 -0.9126 9 0.87932 D 0 -7.4103 6.003 0.19531 0.0:0.5648:0.0:0.4352 rs2302779 381 Q5SZB4 CI050_HUMAN Q 381 ENSP00000361556:R381Q ENSP00000361556:R381Q R - 2 0 C9orf50 131415253 0.000000 0.05858 0.000000 0.03702 0.010000 0.07245 -1.278000 0.02809 -0.001000 0.14495 0.435000 0.28638 CGA NOVEL C9orf50-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054593.1 1 16.788385 KEEP 0 1 32 67 2280 CC 1 1 0 - 10 60 359 0 0 25.031601 130 60 4618 275 ENST00000372478.4 0.071429 1 C9orf50 375759 __UNKNOWN__ __UNKNOWN__ 9 132377728 132377728 __UNKNOWN__ Intron SNP C C T rs918166 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:132377728C>T ENST00000372478.4 - 4 1082 NTMT1_ENST00000372486.1_Intron NM_199350.3 NP_955382.3 Q5SZB4 CI050_HUMAN chromosome 9 open reading frame 50 NA NA central_nervous_system(1)|endometrium(4)|large_intestine(2)|ovary(1)|skin(1)|urinary_tract(1) 10 Ovarian(14;0.00556) CTAGAACTTTCGGGAGTCTCG 0.607 NA c||| 2787 0.55651 0.7118 0.5202 5008 , , NA 18387 0.498 NA 0.4503 False NA ,,, NA NA NA 2504 0.5419 NA NA NA NA 0 2943,1463 653.1+/-399.5 975,993,235 28 25 26 2.4 0 9 dbSNP_86 26 3354,5246 473.6+/-368.6 650,2054,1596 no intron C9orf50 NM_199350.3 1625,3047,1831 TT,TC,CC 39.0,33.2047,48.4161 132377728 6297,6709 2203 4300 6503 SO:0001627 intron_variant AK093122 CCDS35159.1 9q34.2 2012-03-15 ENSG00000179058 ENSG00000179058 375759 23677 protein-coding gene gene with protein product NA Standard NM_199350 NM_199350 NA Approved FLJ35803 uc004byc.4 Q5SZB4 OTTHUMG00000020786 ENST00000372478.4:c.880+34G>A chr9.hg19:g.132377728C>T NA Q2M1I2|Q8NA65 hg19 CCDS35159.1 0.02 9.325664 TTTxGGG COVERED NOVEL C9orf50-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054593.1 2 20.500454 KEEP 0 1 31 79 2710 CC 1 1 0 - 14 60 518 0 0 36.207743 194 60 7074 372 ENST00000372478.4 0.067308 1 C9orf50 375759 __UNKNOWN__ __UNKNOWN__ 9 132377900 132377900 __UNKNOWN__ Missense_Mutation SNP C C T rs918165 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:132377900C>T ENST00000372478.4 - 4 944 c.743G>A c.(742-744)aGg>aAg p.R248K NTMT1_ENST00000372486.1_Intron NM_199350.3 NP_955382.3 Q5SZB4 CI050_HUMAN chromosome 9 open reading frame 50 248 NA R -> K (in dbSNP:rs918165). central_nervous_system(1)|endometrium(4)|large_intestine(2)|ovary(1)|skin(1)|urinary_tract(1) 10 Ovarian(14;0.00556) AGCCTTGAGCCTGGGGACCTG 0.687 NA N||| 2788 0.556709 0.711 0.5216 5008 , , NA 17511 0.498 NA 0.4513 False NA ,,, NA NA NA 2504 0.5419 NA NA NA NA 0 LYS/ARG 2947,1459 975,997,231 51 50 50 743 -0.7 0 9 dbSNP_86 50 3357,5243 648,2061,1591 yes missense C9orf50 NM_199350.3 26 1623,3058,1822 TT,TC,CC 39.0349,33.1139,48.4699 benign 248/432 132377900 6304,6702 2203 4300 6503 SO:0001583 missense AK093122 CCDS35159.1 9q34.2 2012-03-15 ENSG00000179058 ENSG00000179058 375759 23677 protein-coding gene gene with protein product NA Standard NM_199350 NM_199350 NA Approved FLJ35803 uc004byc.4 Q5SZB4 OTTHUMG00000020786 ENST00000372478.4:c.743G>A chr9.hg19:g.132377900C>T ENSP00000361556:p.Arg248Lys NA Q2M1I2|Q8NA65 hg19 CCDS35159.1 0.02 4.918506 AGCxTGG COVERED 1162 0.532051282051282 356 0.7235772357723578 184 0.5082872928176796 288 0.5034965034965035 334 0.44063324538258575 N 0.201 -1.044468 0.01997 0.668861 0.390349 ENSG00000179058 ENST00000372478 T 0.15139 2.45 3.1 -0.718 0.11205 . 1.402030 0.05197 N 0.504289 T 0.00012 0.0000 N 0.03608 -0.345 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.36962 -0.9726 9 0.06099 T 0.92 -0.0034 3.8899 0.09114 0.0:0.3712:0.2074:0.4215 rs918165;rs17507612;rs59121984 248 Q5SZB4 CI050_HUMAN K 248 ENSP00000361556:R248K ENSP00000361556:R248K R - 2 0 C9orf50 131417721 0.002000 0.14202 0.001000 0.08648 0.040000 0.13550 -0.826000 0.04429 -0.455000 0.07054 -0.867000 0.03001 AGG NOVEL C9orf50-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054593.1 0 11.747473 KEEP 0 1 34 51 1790 CC 1 0.999992 0 - 7 60 271 0 0 19.15559 102 60 3908 201 ENST00000372478.4 0.06422 0.999992 PRRX2 51450 __UNKNOWN__ __UNKNOWN__ 9 132484643 132484643 __UNKNOWN__ 3'UTR SNP A A C rs28428946 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:132484643A>C ENST00000372469.4 + 0 1001 NM_016307.3 NP_057391.1 Q99811 PRRX2_HUMAN paired related homeobox 2 NA NA artery morphogenesis (GO:0048844)|cartilage development (GO:0051216)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of transcription, DNA-templated (GO:0006355) nucleus (GO:0005634) sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) lung(2)|pancreas(1) 3 Ovarian(14;0.00556) GTCCAGTCCCACCAGGACCCA 0.617 NA A||| 1129 0.225439 0.3495 0.1095 5008 , , NA 17270 0.3413 NA 0.0567 False NA ,,, NA NA NA 2504 0.1943 NA NA NA NA 0 A 1371,3035 399.5+/-331.2 223,925,1055 54 47 49 -6.4 0 9 dbSNP_125 49 447,8153 118.5+/-177.9 7,433,3860 no utr-3 PRRX2 NM_016307.3 230,1358,4915 CC,CA,AA 5.1977,31.1167,13.9782 132484643 1818,11188 2203 4300 6503 SO:0001624 3_prime_UTR_variant AF061970 CCDS6926.1 9q34.11 2011-06-20 ENSG00000167157 ENSG00000167157 51450 Homeoboxes / PRD class 21338 protein-coding gene gene with protein product 604675 NA 11063257 Standard NM_016307 NM_016307 NA Approved PRX2, PMX2 uc004byh.3 Q99811 OTTHUMG00000020790 ENST00000372469.4:c.*12A>C chr9.hg19:g.132484643A>C NA Q5SZB5|Q9UIB3 hg19 CCDS6926.1 0.02 10.340891 CCCxCCA COVERED NOVEL PRRX2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054598.2 3 26.174999 KEEP 0 0 0 87 2657 AA 1 1 0 + 9 60 324 0 0 19.355727 276 60 9721 468 ENST00000372469.4 0.031579 1 PTGES 9536 __UNKNOWN__ __UNKNOWN__ 9 132515081 132515081 __UNKNOWN__ Intron SNP T T C rs2241271 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:132515081T>C ENST00000340607.4 - 1 161 PTGES_ENST00000481476.1_Intron NM_004878.4 NP_004869.1 O14684 PTGES_HUMAN prostaglandin E synthase NA NA acute inflammatory response (GO:0002526)|arachidonic acid metabolic process (GO:0019369)|chronic inflammatory response (GO:0002544)|cyclooxygenase pathway (GO:0019371)|negative regulation of cell proliferation (GO:0008285)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|response to calcium ion (GO:0051592)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to organic cyclic compound (GO:0014070)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471) glutathione binding (GO:0043295)|prostaglandin-E synthase activity (GO:0050220) lung(1)|skin(1) 2 Ovarian(14;0.00556) ACCTTGGCCATGTTTCCCTAT 0.647 NA C||| 1368 0.273163 0.531 0.1484 5008 , , NA 15254 0.1677 NA 0.2038 False NA ,,, NA NA NA 2504 0.1933 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF010316 CCDS6927.1 9q34.3 2008-07-21 ENSG00000148344 ENSG00000148344 9536 9599 protein-coding gene gene with protein product microsomal glutathione S-transferase 1-like 1, tumor protein p53 inducible protein 12, p53-induced gene 12, microsomal prostaglandin E synthase-1, glutathione S-transferase 1-like 1, MGST1-like 1 605172 MGST1L1 NA 9305847, 10091672 Standard NM_004878 NM_004878 NA Approved MGST-IV, PIG12, MGST1-L1, TP53I12 uc004byi.3 O14684 OTTHUMG00000020791 ENST00000340607.4:c.126+84A>G chr9.hg19:g.132515081T>C NA O14900|Q5SZC0 hg19 CCDS6927.1 0.02 1.916115 CCAxGTT COVERED NOVEL PTGES-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054599.2 0 6.920406 KEEP 0 0 0 23 701 TT 0.999892 0.99966 0 - 4 60 149 0 0 9.744794 84 60 2914 134 ENST00000340607.4 0.045455 0.999768 GPR107 57720 __UNKNOWN__ __UNKNOWN__ 9 132838117 132838117 __UNKNOWN__ Intron SNP G G A rs7038342 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:132838117G>A ENST00000347136.6 + 2 762 GPR107_ENST00000372410.3_Intron|GPR107_ENST00000372406.1_Intron NM_020960.4 NP_066011.2 Q5VW38 GP107_HUMAN G protein-coupled receptor 107 NA NA integral component of membrane (GO:0016021) endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 11 Ovarian(14;0.000531) gctggagtgcggtggcgcaat 0.507 NA G||| 992 0.198083 0.1309 0.2464 5008 , , NA 13032 0.4365 NA 0.0646 False NA ,,, NA NA NA 2504 0.1462 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF376725 CCDS35162.1, CCDS48041.1, CCDS48042.1 9q34.2 2014-01-30 ENSG00000148358 ENSG00000148358 57720 GPCR / Unclassified : 7TM orphan receptors 17830 protein-coding gene gene with protein product NA Standard NM_020960 NA Approved KIAA1624, RP11-88G17, FLJ20998, LUSTR1 uc004bzd.2 Q5VW38 OTTHUMG00000020804 ENST00000347136.6:c.255+89G>A chr9.hg19:g.132838117G>A NA A6NJ53|Q2TB81|Q5JPA3|Q5VW39|Q96T26|Q9H658|Q9HCE8 hg19 CCDS35162.1 0.02 -0.315802 TGCxGTG COVERED NOVEL GPR107-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054645.1 0 3.310596 KEEP 1 0 0 11 377 GG 0.992708 0.812496 0 + 4 60 148 0 0 11.307471 31 60 1099 51 ENST00000347136.6 0.114286 0.818465 GPR107 57720 __UNKNOWN__ __UNKNOWN__ 9 132845723 132845723 __UNKNOWN__ Intron SNP T T A rs7855078 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:132845723T>A ENST00000347136.6 + 6 1033 GPR107_ENST00000372410.3_Intron|GPR107_ENST00000372406.1_Intron NM_020960.4 NP_066011.2 Q5VW38 GP107_HUMAN G protein-coupled receptor 107 NA NA integral component of membrane (GO:0016021) endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 11 Ovarian(14;0.000531) GTCCCCAAGATTATTTTGTTT 0.333 NA T||| 2481 0.495407 0.27 0.5086 5008 , , NA 17421 0.7917 NA 0.4841 False NA ,,, NA NA NA 2504 0.4969 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF376725 CCDS35162.1, CCDS48041.1, CCDS48042.1 9q34.2 2014-01-30 ENSG00000148358 ENSG00000148358 57720 GPCR / Unclassified : 7TM orphan receptors 17830 protein-coding gene gene with protein product NA Standard NM_020960 NA Approved KIAA1624, RP11-88G17, FLJ20998, LUSTR1 uc004bzd.2 Q5VW38 OTTHUMG00000020804 ENST00000347136.6:c.527-121T>A chr9.hg19:g.132845723T>A NA A6NJ53|Q2TB81|Q5JPA3|Q5VW39|Q96T26|Q9H658|Q9HCE8 hg19 CCDS35162.1 0.02 4.389685 AGAxTAT COVERED NOVEL GPR107-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054645.1 0 3.609691 KEEP 0 0 0 12 346 TT 0.993634 0.993602 0 + 6 60 215 0 0 14.482788 95 60 3430 113 ENST00000347136.6 0.059406 0.999968 GPR107 57720 __UNKNOWN__ __UNKNOWN__ 9 132845936 132845936 __UNKNOWN__ Intron SNP G G A rs184893754 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:132845936G>A ENST00000347136.6 + 6 1071 GPR107_ENST00000372410.3_Intron|GPR107_ENST00000372406.1_Intron NM_020960.4 NP_066011.2 Q5VW38 GP107_HUMAN G protein-coupled receptor 107 NA NA integral component of membrane (GO:0016021) endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 11 Ovarian(14;0.000531) gtgtacgtgtgtgtgttatat 0.413 NA G||| 3 0.000599042 0.0 0.0 5008 , , NA 17523 0.003 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 156 140 145 NA NA 9 NA 132845936 692 1591 2283 SO:0001627 intron_variant AF376725 CCDS35162.1, CCDS48041.1, CCDS48042.1 9q34.2 2014-01-30 ENSG00000148358 ENSG00000148358 57720 GPCR / Unclassified : 7TM orphan receptors 17830 protein-coding gene gene with protein product NA Standard NM_020960 NA Approved KIAA1624, RP11-88G17, FLJ20998, LUSTR1 uc004bzd.2 Q5VW38 OTTHUMG00000020804 ENST00000347136.6:c.564+55G>A chr9.hg19:g.132845936G>A NA A6NJ53|Q2TB81|Q5JPA3|Q5VW39|Q96T26|Q9H658|Q9HCE8 hg19 CCDS35162.1 0.02 17.791743 TGTxTGT COVERED NOVEL GPR107-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054645.1 10 21.403423 KEEP 0 1 31 82 2897 GG 1 1 0 + 14 60 524 0 0 32.406265 408 60 15315 626 ENST00000347136.6 0.033175 1 GPR107 57720 __UNKNOWN__ __UNKNOWN__ 9 132845986 132845986 __UNKNOWN__ Intron SNP T T C rs10819597 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:132845986T>C ENST00000347136.6 + 6 1071 GPR107_ENST00000372410.3_Intron|GPR107_ENST00000372406.1_Intron NM_020960.4 NP_066011.2 Q5VW38 GP107_HUMAN G protein-coupled receptor 107 NA NA integral component of membrane (GO:0016021) endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 11 Ovarian(14;0.000531) catacatgcatgcacagacac 0.408 NA T||| 3205 0.639976 0.5295 0.6196 5008 , , NA 15725 0.8006 NA 0.6103 False NA ,,, NA NA NA 2504 0.6687 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF376725 CCDS35162.1, CCDS48041.1, CCDS48042.1 9q34.2 2014-01-30 ENSG00000148358 ENSG00000148358 57720 GPCR / Unclassified : 7TM orphan receptors 17830 protein-coding gene gene with protein product NA Standard NM_020960 NA Approved KIAA1624, RP11-88G17, FLJ20998, LUSTR1 uc004bzd.2 Q5VW38 OTTHUMG00000020804 ENST00000347136.6:c.564+105T>C chr9.hg19:g.132845986T>C NA A6NJ53|Q2TB81|Q5JPA3|Q5VW39|Q96T26|Q9H658|Q9HCE8 hg19 CCDS35162.1 0.02 9.896092 GCAxGCA COVERED NOVEL GPR107-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054645.1 2 7.82355 KEEP 0 0 0 26 815 TT 0.999957 0.999957 0 + 23 60 778 0 0 54.295123 256 60 9430 336 ENST00000347136.6 0.082437 1 GPR107 57720 __UNKNOWN__ __UNKNOWN__ 9 132861840 132861840 __UNKNOWN__ Intron SNP A A G rs2286793 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:132861840A>G ENST00000347136.6 + 10 1446 GPR107_ENST00000372410.3_Intron|GPR107_ENST00000372406.1_Intron NM_020960.4 NP_066011.2 Q5VW38 GP107_HUMAN G protein-coupled receptor 107 NA NA integral component of membrane (GO:0016021) endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 11 Ovarian(14;0.000531) AGGATCATTCATGAAATTACG 0.393 NA A||| 46 0.0091853 0.0 0.0014 5008 , , NA 17989 0.0446 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 A ,, 2,4404 4.2+/-10.8 0,2,2201 91 81 84 ,, -5.2 0 9 dbSNP_100 84 2,8598 2.2+/-6.3 0,2,4298 no intron,intron,intron GPR107 NM_001136557.1,NM_001136558.1,NM_020960.4 ,, 0,4,6499 GG,GA,AA 0.0233,0.0454,0.0308 ,, ,, 132861840 4,13002 2203 4300 6503 SO:0001627 intron_variant AF376725 CCDS35162.1, CCDS48041.1, CCDS48042.1 9q34.2 2014-01-30 ENSG00000148358 ENSG00000148358 57720 GPCR / Unclassified : 7TM orphan receptors 17830 protein-coding gene gene with protein product NA Standard NM_020960 NA Approved KIAA1624, RP11-88G17, FLJ20998, LUSTR1 uc004bzd.2 Q5VW38 OTTHUMG00000020804 ENST00000347136.6:c.939+29A>G chr9.hg19:g.132861840A>G NA A6NJ53|Q2TB81|Q5JPA3|Q5VW39|Q96T26|Q9H658|Q9HCE8 hg19 CCDS35162.1 0.02 7.367495 TTCxTGA COVERED NOVEL GPR107-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054645.1 2 7.522689 KEEP 0 0 0 25 777 AA 0.999931 0.999931 0 + 8 60 317 0 0 21.748057 151 60 5621 219 ENST00000347136.6 0.050314 1 AL360004.1 0 __UNKNOWN__ __UNKNOWN__ 9 132904345 132904345 __UNKNOWN__ Missense_Mutation SNP G G A rs7870010 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:132904345G>A ENST00000358748.1 - 2 1801 c.37C>T c.(37-39)Cca>Tca p.P13S NA NA NA GCAGGTGCTGGCAGGGGCCTG 0.647 NA G||| 866 0.172923 0.1974 0.0591 5008 , , NA 16370 0.3075 NA 0.1083 False NA ,,, NA NA NA 2504 0.1483 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense NA NA NA NA ENST00000358748.1:c.37C>T chr9.hg19:g.132904345G>A ENSP00000351598:p.Pro13Ser NA hg19 0.02 3.686913 CTGxCAG COVERED 375 0.1717032967032967 94 0.1910569105691057 18 0.049723756906077346 170 0.2972027972027972 93 0.12269129287598944 G 2.464 -0.323513 0.05350 . . ENSG00000196979 ENST00000358748 . . . 1.07 0.117 0.14652 . . . . . T 0.00012 0.0000 . . . 0.80722 P 0.0 . . . . . . T 0.29640 -1.0005 4 0.87932 D 0 . 3.3267 0.07070 0.2994:0.0:0.7006:0.0 rs7870010 . . . S 13 . ENSP00000351598:P13S P - 1 0 AL360004.1 131944166 0.000000 0.05858 0.000000 0.03702 0.003000 0.03518 -0.076000 0.11412 0.028000 0.15324 -0.339000 0.08088 CCA NOVEL AL360004.1-201 KNOWN basic|appris_principal protein_coding NA protein_coding 0 10.167823 KEEP 0 1 32 45 1571 GG 1 1 0 - 5 60 179 0 0 10.81492 142 60 5325 209 ENST00000358748.1 0.034014 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 133057105 133057105 __UNKNOWN__ IGR SNP C C T rs34014907 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:133057105C>T NA NA NCS1 (57522 upstream) : HMCN2 (202730 downstream) NA NA NA GGGCACCTGCCGGCATCAGCT 0.592 NA c||| 1264 0.252396 0.0492 0.2522 5008 , , NA 18905 0.4812 NA 0.2773 False NA ,,, NA NA NA 2504 0.2658 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.133057105C>T NA hg19 0.02 6.652737 TGCxGGC COVERED NOVEL 0 0 7.524235 KEEP 0 0 0 25 875 CC 0.999931 0.999931 0 9 60 329 0 0 22.133875 152 60 5373 218 0.055901 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 133058892 133058892 __UNKNOWN__ IGR SNP G G A rs34511011 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:133058892G>A NA NA NCS1 (59309 upstream) : HMCN2 (200943 downstream) NA NA NA GTCACCTCCTGCCCTAAGCTG 0.602 NA G||| 1256 0.250799 0.0431 0.2522 5008 , , NA 19120 0.4812 NA 0.2773 False NA ,,, NA NA NA 2504 0.2658 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.133058892G>A NA hg19 0.02 1.863083 CCTxCCC COVERED NOVEL 0 1 2.708881 KEEP 0 0 0 9 324 GG 0.99254 0.992448 0 4 60 146 0 0 9.327341 90 60 3444 118 0.042553 0.999907 HMCN2 256158 __UNKNOWN__ __UNKNOWN__ 9 133309014 133309014 __UNKNOWN__ Silent SNP T T C rs7860727 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:133309014T>C ENST00000428715.1 + 14 2305 c.2304T>C c.(2302-2304)cgT>cgC p.R768R HMCN2_ENST00000302481.1_Silent_p.R199R Q8NDA2 HMCN2_HUMAN hemicentin 2 5044 Ig-like C2-type 3. NA response to stimulus (GO:0050896) proteinaceous extracellular matrix (GO:0005578) calcium ion binding (GO:0005509) NA TCACCGTGCGTGCTGCGGCAC 0.726 NA C||| 956 0.190895 0.3828 0.1095 5008 , , NA 14466 0.0774 NA 0.159 False NA ,,, NA NA NA 2504 0.1391 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001819 synonymous_variant AK074396 9q34.11 2013-01-29 ENSG00000148357 ENSG00000148357 256158 Fibulins, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 21293 protein-coding gene gene with protein product NA Standard XM_175125 XM_006710218 NA Approved DKFZp434P0216, FLJ23816 Q8NDA2 OTTHUMG00000140096 ENST00000428715.1:c.2304T>C chr9.hg19:g.133309014T>C NA Q8N225|Q8TCI8 hg19 0.02 18.310143 GCGxGCT COVERED NOVEL HMCN2-001 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000054661.2 1 41.758359 KEEP 0 1 38 152 4669 TT 1 1 0 + 15 60 486 0 0 26.138252 519 60 18003 908 ENST00000428715.1 0.02809 1 ASS1 445 __UNKNOWN__ __UNKNOWN__ 9 133327835 133327835 __UNKNOWN__ Intron SNP G G A rs1615006 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:133327835G>A ENST00000372394.1 + 3 586 ASS1_ENST00000352480.5_Intron|ASS1_ENST00000372393.3_Intron P00966 ASSY_HUMAN argininosuccinate synthase 1 NA NA acute-phase response (GO:0006953)|aging (GO:0007568)|arginine biosynthetic process (GO:0006526)|argininosuccinate metabolic process (GO:0000053)|aspartate metabolic process (GO:0006531)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to amine stimulus (GO:0071418)|cellular response to amino acid stimulus (GO:0071230)|cellular response to ammonium ion (GO:0071242)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to glucagon stimulus (GO:0071377)|cellular response to interferon-gamma (GO:0071346)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to oleic acid (GO:0071400)|cellular response to tumor necrosis factor (GO:0071356)|citrulline metabolic process (GO:0000052)|diaphragm development (GO:0060539)|kidney development (GO:0001822)|liver development (GO:0001889)|midgut development (GO:0007494)|negative regulation of leukocyte cell-cell adhesion (GO:1903038)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to mycotoxin (GO:0010046)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050) cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|perikaryon (GO:0043204) amino acid binding (GO:0016597)|argininosuccinate synthase activity (GO:0004055)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|toxic substance binding (GO:0015643) breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(145;0.000514) Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155) ACTCATTCAAGCCTGGCCTCT 0.537 NA g||| 2902 0.579473 0.2867 0.7392 5008 , , NA 20499 0.6716 NA 0.6759 False NA ,,, NA NA NA 2504 0.6677 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X01630 CCDS6933.1 9q34.1 2012-10-02 2010-04-20 2006-08-24 ENSG00000130707 ENSG00000130707 445 6.3.4.5 758 protein-coding gene gene with protein product 603470 argininosuccinate synthetase ASS NA 3513483, 852520 Standard NM_000050 NM_054012 NA Approved CTLN1 uc004bzm.3 P00966 OTTHUMG00000020806 ENST00000372394.1:c.105+115G>A chr9.hg19:g.133327835G>A NA Q6LDL2|Q86UZ0|Q96GT4 hg19 CCDS6933.1 0.02 8.476277 CAAxCCT COVERED NOVEL ASS1-004 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054652.1 1 16.655798 KEEP 0 3 84 85 3000 GG 1 1 0 + 14 60 483 0 0 31.612582 234 60 8703 377 ENST00000372394.1 0.056452 1 ASS1 445 __UNKNOWN__ __UNKNOWN__ 9 133342084 133342084 __UNKNOWN__ Intron SNP C C T rs76169404 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:133342084C>T ENST00000372394.1 + 7 901 ASS1_ENST00000352480.5_Intron|ASS1_ENST00000493984.2_3'UTR|ASS1_ENST00000372393.3_Intron P00966 ASSY_HUMAN argininosuccinate synthase 1 NA NA acute-phase response (GO:0006953)|aging (GO:0007568)|arginine biosynthetic process (GO:0006526)|argininosuccinate metabolic process (GO:0000053)|aspartate metabolic process (GO:0006531)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to amine stimulus (GO:0071418)|cellular response to amino acid stimulus (GO:0071230)|cellular response to ammonium ion (GO:0071242)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to glucagon stimulus (GO:0071377)|cellular response to interferon-gamma (GO:0071346)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to oleic acid (GO:0071400)|cellular response to tumor necrosis factor (GO:0071356)|citrulline metabolic process (GO:0000052)|diaphragm development (GO:0060539)|kidney development (GO:0001822)|liver development (GO:0001889)|midgut development (GO:0007494)|negative regulation of leukocyte cell-cell adhesion (GO:1903038)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to mycotoxin (GO:0010046)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050) cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|perikaryon (GO:0043204) amino acid binding (GO:0016597)|argininosuccinate synthase activity (GO:0004055)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|toxic substance binding (GO:0015643) breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(145;0.000514) Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155) TCGGCCCTCCCGGCTCTGACC 0.617 NA C||| 44 0.00878594 0.0 0.0 5008 , , NA 17090 0.0407 NA 0.0 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 C , 12,4394 17.9+/-39.9 0,12,2191 50 46 47 , 1.2 0 9 dbSNP_132 47 1,8599 1.2+/-3.3 0,1,4299 no intron,intron ASS1 NM_000050.4,NM_054012.3 , 0,13,6490 TT,TC,CC 0.0116,0.2724,0.1 , , 133342084 13,12993 2203 4300 6503 SO:0001627 intron_variant X01630 CCDS6933.1 9q34.1 2012-10-02 2010-04-20 2006-08-24 ENSG00000130707 ENSG00000130707 445 6.3.4.5 758 protein-coding gene gene with protein product 603470 argininosuccinate synthetase ASS NA 3513483, 852520 Standard NM_000050 NM_054012 NA Approved CTLN1 uc004bzm.3 P00966 OTTHUMG00000020806 ENST00000372394.1:c.421-28C>T chr9.hg19:g.133342084C>T NA Q6LDL2|Q86UZ0|Q96GT4 hg19 CCDS6933.1 0.02 1.910355 TCCxGGC COVERED NOVEL ASS1-004 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054652.1 0 3.611406 KEEP 0 0 0 12 407 CC 0.993634 0.993596 0 + 5 60 173 0 0 11.070824 95 60 3381 115 ENST00000372394.1 0.05 0.999962 LAMC3 10319 __UNKNOWN__ __UNKNOWN__ 9 133884820 133884820 __UNKNOWN__ Missense_Mutation SNP T T G rs3739512 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:133884820T>G ENST00000361069.4 + 1 352 c.219T>G c.(217-219)caT>caG p.H73Q LAMC3_ENST00000480883.1_3'UTR NM_006059.3 NP_006050.3 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 73 Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}. NA astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601) basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578) structural molecule activity (GO:0005198) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 69 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) cgggggcTCATTGCCAGCGCT 0.731 NA G||| 3285 0.65595 0.8011 0.5504 5008 , , NA 9081 0.8611 NA 0.4533 False NA ,,, NA NA NA 2504 0.5317 NA NA NA NA 0 G GLN/HIS 2801,873 1125,551,161 6 5 6 219 3 0.6 9 dbSNP_107 6 3292,3800 842,1608,1096 no missense LAMC3 NM_006059.3 24 1967,2159,1257 GG,GT,TT 46.4185,23.7616,43.4052 benign 73/1576 133884820 6093,4673 1837 3546 5383 SO:0001583 missense AF041835 CCDS6938.1 9q31-q34 2013-03-01 ENSG00000050555 ENSG00000050555 10319 Laminins 6494 protein-coding gene gene with protein product 604349 NA 10225960 Standard NM_006059 NM_006059 NA Approved DKFZp434E202 uc004caa.1 Q9Y6N6 OTTHUMG00000020819 ENST00000361069.4:c.219T>G chr9.hg19:g.133884820T>G ENSP00000354360:p.His73Gln NA B1APX9|B1APY0|Q59H72 hg19 CCDS6938.1 0.02 9.420585 TCAxTGC COVERED 1392 0.6373626373626373 369 0.75 198 0.5469613259668509 486 0.8496503496503497 339 0.4472295514511873 G 4.105 0.017662 0.07959 0.762384 0.464185 ENSG00000050555 ENST00000361069;ENST00000355048;ENST00000320021 T 0.73681 -0.77 3.94 3.0 0.34707 Laminin, N-terminal (3); 0.518974 0.20363 N 0.093816 T 0.00012 0.0000 N 0.00224 -1.81 0.49798 P 1.7699999999998273E-4 B 0.02656 0.0 B 0.01281 0.0 T 0.39761 -0.9598 9 0.18710 T 0.47 . 8.2046 0.31446 0.0:0.327:0.5045:0.1685 rs3739512 73 Q9Y6N6 LAMC3_HUMAN Q 73 ENSP00000354360:H73Q ENSP00000325873:H73Q H + 3 2 LAMC3 132874641 1.000000 0.71417 0.637000 0.29366 0.294000 0.27393 1.591000 0.36665 0.126000 0.18424 -0.648000 0.03929 CAT NOVEL LAMC3-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054717.3 2 13.840185 KEEP 0 0 0 46 1383 TT 1 1 0 + 15 60 561 0 0 39.486874 205 60 7128 332 ENST00000361069.4 0.068182 1 LAMC3 10319 __UNKNOWN__ __UNKNOWN__ 9 133962930 133962930 __UNKNOWN__ Missense_Mutation SNP C C T rs7024108 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:133962930C>T ENST00000361069.4 + 26 4431 c.4298C>T c.(4297-4299)aCg>aTg p.T1433M LAMC3_ENST00000480883.1_Intron NM_006059.3 NP_006050.3 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 1433 Domain II and I. NA T -> M (in Ref. 3; BAD92124). {ECO:0000305}. astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601) basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578) structural molecule activity (GO:0005198) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 69 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) ACCAGCCAGACGCAAGCCACG 0.647 NA C||| 1112 0.222045 0.2148 0.2075 5008 , , NA 17990 0.1855 NA 0.337 False NA ,,, NA NA NA 2504 0.1616 NA NA NA NA 0 C MET/THR 1003,3403 371.0+/-319.8 108,787,1308 72 77 75 4298 2.9 0.2 9 dbSNP_116 75 2925,5675 455.5+/-363.8 473,1979,1848 yes missense LAMC3 NM_006059.3 81 581,2766,3156 TT,TC,CC 34.0116,22.7644,30.2014 benign 1433/1576 133962930 3928,9078 2203 4300 6503 SO:0001583 missense AF041835 CCDS6938.1 9q31-q34 2013-03-01 ENSG00000050555 ENSG00000050555 10319 Laminins 6494 protein-coding gene gene with protein product 604349 NA 10225960 Standard NM_006059 NM_006059 NA Approved DKFZp434E202 uc004caa.1 Q9Y6N6 OTTHUMG00000020819 ENST00000361069.4:c.4298C>T chr9.hg19:g.133962930C>T ENSP00000354360:p.Thr1433Met NA B1APX9|B1APY0|Q59H72 hg19 CCDS6938.1 0.02 10.344775 AGAxGCA COVERED 553|553 0.2532051282051282|0.2532051282051282 112|112 0.22764227642276422|0.22764227642276422 79|79 0.21823204419889503|0.21823204419889503 111|111 0.19405594405594406|0.19405594405594406 251|251 0.3311345646437995|0.3311345646437995 C|C 11.05|11.05 1.523552|1.523552 0.27299|0.27299 0.227644|0.227644 0.340116|0.340116 ENSG00000050555|ENSG00000050555 ENST00000355452|ENST00000361069;ENST00000355048 .|T .|0.27890 .|1.64 4.74|4.74 2.92|2.92 0.33932|0.33932 .|. .|0.640244 .|0.15728 .|N .|0.247567 T|T 0.00012|0.00012 0.0000|0.0000 L|L 0.57536|0.57536 1.79|1.79 0.80722|0.80722 P|P 0.0|0.0 .|P .|0.38020 .|0.615 .|B .|0.27608 .|0.081 T|T 0.40059|0.40059 -0.9583|-0.9583 4|9 .|0.46703 .|T .|0.11 .|. 7.0722|7.0722 0.25185|0.25185 0.0:0.797:0.0:0.203|0.0:0.797:0.0:0.203 rs7024108;rs7024108|rs7024108;rs7024108 .|1433 .|Q9Y6N6 .|LAMC3_HUMAN C|M 115|1433;1445 .|ENSP00000354360:T1433M .|ENSP00000347156:T1445M R|T +|+ 1|2 0|0 LAMC3|LAMC3 132952751|132952751 0.111000|0.111000 0.22076|0.22076 0.228000|0.228000 0.23943|0.23943 0.045000|0.045000 0.14185|0.14185 1.156000|1.156000 0.31712|0.31712 0.621000|0.621000 0.30232|0.30232 -0.251000|-0.251000 0.11542|0.11542 CGC|ACG NOVEL LAMC3-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054717.3 1 16.851933 KEEP 0 0 0 56 1881 CC 1 1 0 + 12 60 438 0 0 27.746079 283 60 9372 409 ENST00000361069.4 0.040678 1 AIF1L 83543 __UNKNOWN__ __UNKNOWN__ 9 133995959 133995959 __UNKNOWN__ 3'UTR SNP C C T rs353513 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:133995959C>T ENST00000247291.3 + 0 791 AIF1L_ENST00000372298.1_Intron|AIF1L_ENST00000372309.3_3'UTR|AIF1L_ENST00000372300.1_3'UTR|AIF1L_ENST00000372302.1_3'UTR|AIF1L_ENST00000372312.3_3'UTR NM_031426.3 NP_113614.1 Q9BQI0 AIF1L_HUMAN allograft inflammatory factor 1-like NA NA actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|protein complex (GO:0043234) actin filament binding (GO:0051015)|calcium ion binding (GO:0005509) lung(2) 2 GAAGGGCTGACATCAAACCAA 0.582 NA C||| 3184 0.635783 0.4183 0.7968 5008 , , NA 16308 0.629 NA 0.7535 False NA ,,, NA NA NA 2504 0.7014 NA NA NA Esophageal Squamous(95;611 1423 5044 34794 42333) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL136566 CCDS6939.1, CCDS55348.1, CCDS55349.1 9q34.13-q34.3 2013-01-10 2008-10-21 2008-10-21 ENSG00000126878 ENSG00000126878 83543 EF-hand domain containing 28904 protein-coding gene gene with protein product chromosome 9 open reading frame 58 C9orf58 NA 11230166 Standard NM_031426 NM_001185095 NA Approved IBA2, FLJ12783 uc004cad.2 Q9BQI0 OTTHUMG00000020817 ENST00000247291.3:c.*250C>T chr9.hg19:g.133995959C>T NA B2RBC4|Q6ZR40|Q8NAX7|Q8WU47|Q9H9G0 hg19 CCDS6939.1 0.02 5.886339 TGAxATC COVERED NOVEL AIF1L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054703.2 1 10.835432 KEEP 0 0 0 36 1286 CC 0.999999 0.999999 0 + 7 60 242 0 0 14.700029 173 60 6401 261 ENST00000247291.3 0.038889 1 AIF1L 83543 __UNKNOWN__ __UNKNOWN__ 9 133996184 133996184 __UNKNOWN__ 3'UTR SNP C C T rs353512 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:133996184C>T ENST00000247291.3 + 0 1016 AIF1L_ENST00000372298.1_Intron|AIF1L_ENST00000372309.3_3'UTR|AIF1L_ENST00000372300.1_3'UTR|AIF1L_ENST00000372302.1_3'UTR|AIF1L_ENST00000372312.3_3'UTR NM_031426.3 NP_113614.1 Q9BQI0 AIF1L_HUMAN allograft inflammatory factor 1-like NA NA actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|protein complex (GO:0043234) actin filament binding (GO:0051015)|calcium ion binding (GO:0005509) lung(2) 2 AGTGCCATGGCTCCAGTGCTC 0.607 NA T||| 3212 0.641374 0.4622 0.7752 5008 , , NA 18432 0.624 NA 0.7276 False NA ,,, NA NA NA 2504 0.7178 NA NA NA Esophageal Squamous(95;611 1423 5044 34794 42333) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL136566 CCDS6939.1, CCDS55348.1, CCDS55349.1 9q34.13-q34.3 2013-01-10 2008-10-21 2008-10-21 ENSG00000126878 ENSG00000126878 83543 EF-hand domain containing 28904 protein-coding gene gene with protein product chromosome 9 open reading frame 58 C9orf58 NA 11230166 Standard NM_031426 NM_001185095 NA Approved IBA2, FLJ12783 uc004cad.2 Q9BQI0 OTTHUMG00000020817 ENST00000247291.3:c.*475C>T chr9.hg19:g.133996184C>T NA B2RBC4|Q6ZR40|Q8NAX7|Q8WU47|Q9H9G0 hg19 CCDS6939.1 0.02 14.759384 TGGxTCC COVERED NOVEL AIF1L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054703.2 2 14.146117 KEEP 0 0 0 47 1692 CC 1 1 0 + 18 60 642 0 0 41.767362 342 60 12837 502 ENST00000247291.3 0.05 1 AIF1L 83543 __UNKNOWN__ __UNKNOWN__ 9 133996503 133996503 __UNKNOWN__ 3'UTR SNP T T A rs353510 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:133996503T>A ENST00000247291.3 + 0 1335 AIF1L_ENST00000372298.1_Silent_p.G96G|AIF1L_ENST00000372309.3_3'UTR|AIF1L_ENST00000372300.1_3'UTR|AIF1L_ENST00000372302.1_3'UTR NM_031426.3 NP_113614.1 Q9BQI0 AIF1L_HUMAN allograft inflammatory factor 1-like NA NA actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|protein complex (GO:0043234) actin filament binding (GO:0051015)|calcium ion binding (GO:0005509) lung(2) 2 TTTAGGGAGGTTACTGAGGGG 0.537 NA A||| 3232 0.645367 0.4576 0.8026 5008 , , NA 20566 0.629 NA 0.7535 False NA ,,, NA NA NA 2504 0.6933 NA NA NA Esophageal Squamous(95;611 1423 5044 34794 42333) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL136566 CCDS6939.1, CCDS55348.1, CCDS55349.1 9q34.13-q34.3 2013-01-10 2008-10-21 2008-10-21 ENSG00000126878 ENSG00000126878 83543 EF-hand domain containing 28904 protein-coding gene gene with protein product chromosome 9 open reading frame 58 C9orf58 NA 11230166 Standard NM_031426 NM_001185095 NA Approved IBA2, FLJ12783 uc004cad.2 Q9BQI0 OTTHUMG00000020817 ENST00000247291.3:c.*794T>A chr9.hg19:g.133996503T>A NA B2RBC4|Q6ZR40|Q8NAX7|Q8WU47|Q9H9G0 hg19 CCDS6939.1 0.02 17.600446 AGGxTAC COVERED NOVEL AIF1L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054703.2 1 17.443805 KEEP 0 0 0 58 1739 TT 1 1 0 + 27 60 920 0 0 61.118065 418 60 14161 599 ENST00000247291.3 0.060674 1 NUP214 8021 __UNKNOWN__ __UNKNOWN__ 9 134001158 134001158 __UNKNOWN__ Intron SNP C C G rs77164468 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:134001158C>G ENST00000359428.5 + 1 189 NUP214_ENST00000451030.1_Intron|NUP214_ENST00000411637.2_Intron P35658 NU214_HUMAN nucleoporin 214kDa NA NA carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032) cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215) NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 86 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) ACCGGGGCCTCCCTCCCTTCT 0.617 NA T DEK, SET, ABL1 AML, T-ALL C||| 330 0.0658946 0.0061 0.0677 5008 , , NA 18957 0.0456 NA 0.1113 False NA ,,, NA NA NA 2504 0.1196 NA NA NA Pancreas(4;24 48 25510 30394 32571) Dom yes 9 9q34.1 8021 nucleoporin 214kDa (CAN) L 0 C 103,4133 1,101,2016 114 93 100 1.1 0.1 9 dbSNP_132 100 916,7218 47,822,3198 no intron NUP214 NM_005085.2 48,923,5214 GG,GC,CC 11.2614,2.4315,8.2377 134001158 1019,11351 2118 4067 6185 SO:0001627 intron_variant X64228 CCDS6940.1 9q34 2008-07-21 2002-08-29 ENSG00000126883 ENSG00000126883 8021 8064 protein-coding gene gene with protein product nuclear pore complex protein Nup214, CAN protein, putative oncogene 114350 nucleoporin 214kD (CAIN) NA 8108440, 2370860 Standard NM_005085 NM_005085 NA Approved CAIN, CAN, D9S46E, N214 uc004cag.3 P35658 OTTHUMG00000020816 ENST00000359428.5:c.45+22C>G chr9.hg19:g.134001158C>G NA A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3 hg19 CCDS6940.1 0.02 8.929398 CCTxCCT COVERED NOVEL NUP214-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000054694.2 5 30.680663 KEEP 0 0 0 102 3541 CC 1 1 0 + 13 60 468 0 0 31.023591 229 60 8423 431 ENST00000359428.5 0.053719 1 NUP214 8021 __UNKNOWN__ __UNKNOWN__ 9 134064345 134064345 __UNKNOWN__ Intron SNP T T C rs2274427 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:134064345T>C ENST00000359428.5 + 26 3639 NUP214_ENST00000451030.1_Intron|NUP214_ENST00000411637.2_Intron P35658 NU214_HUMAN nucleoporin 214kDa NA NA carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032) cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215) NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 86 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) TTGCTTATTTTAAATTATATT 0.244 NA T DEK, SET, ABL1 AML, T-ALL T||| 3118 0.622604 0.5726 0.7608 5008 , , NA 20120 0.5734 NA 0.6759 False NA ,,, NA NA NA 2504 0.5879 NA NA NA Pancreas(4;24 48 25510 30394 32571) Dom yes 9 9q34.1 8021 nucleoporin 214kDa (CAN) L 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X64228 CCDS6940.1 9q34 2008-07-21 2002-08-29 ENSG00000126883 ENSG00000126883 8021 8064 protein-coding gene gene with protein product nuclear pore complex protein Nup214, CAN protein, putative oncogene 114350 nucleoporin 214kD (CAIN) NA 8108440, 2370860 Standard NM_005085 NM_005085 NA Approved CAIN, CAN, D9S46E, N214 uc004cag.3 P35658 OTTHUMG00000020816 ENST00000359428.5:c.3496-95T>C chr9.hg19:g.134064345T>C NA A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3 hg19 CCDS6940.1 0.02 4.801145 TTTxAAA COVERED NOVEL NUP214-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000054694.2 1 3.30734 KEEP 0 0 0 11 294 TT 0.993072 0.993066 0 + 8 60 303 0 0 21.635575 103 60 3615 123 ENST00000359428.5 0.072072 0.999994 PPAPDC3 84814 __UNKNOWN__ __UNKNOWN__ 9 134183503 134183503 __UNKNOWN__ Silent SNP T T C rs2986606 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:134183503T>C ENST00000372264.3 + 2 949 c.645T>C c.(643-645)cgT>cgC p.R215R NM_032728.3 NP_116117.3 Q8NBV4 PPAC3_HUMAN phosphatidic acid phosphatase type 2 domain containing 3 215 NA negative regulation of myotube differentiation (GO:0010832) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635) hydrolase activity (GO:0016787) breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1) 16 all_hematologic(7;0.0119) OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173) TGCCCCTGCGTGTGCTGCTGG 0.682 NA C||| 3182 0.635383 0.4448 0.6513 5008 , , NA 15596 0.7312 NA 0.7416 False NA ,,, NA NA NA 2504 0.6738 NA NA NA NA 0 C 2204,2200 588.0+/-386.8 560,1084,558 71 62 65 645 -6.4 0.1 9 dbSNP_101 65 6479,2117 361.5+/-332.4 2457,1565,276 no coding-synonymous PPAPDC3 NM_032728.3 3017,2649,834 CC,CT,TT 24.6277,49.9546,33.2077 215/272 134183503 8683,4317 2202 4298 6500 SO:0001819 synonymous_variant AK027568 CCDS6942.1 9q34.2-q34.3 2008-02-26 2005-07-15 2005-07-15 ENSG00000160539 ENSG00000160539 84814 28174 protein-coding gene gene with protein product chromosome 9 open reading frame 67 C9orf67 NA 12958361 Standard NM_032728 NM_032728 NA Approved MGC12921, FLJ14662, NET39 uc004cal.2 Q8NBV4 OTTHUMG00000020822 ENST00000372264.3:c.645T>C chr9.hg19:g.134183503T>C NA Q5T6P0|Q96SS7|Q9BRC3 hg19 CCDS6942.1 0.02 13.102186 GCGxGTG COVERED NOVEL PPAPDC3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054724.1 1 17.416393 KEEP 0 2 63 80 2408 TT 1 1 0 + 12 60 382 0 0 22.080245 321 60 11226 476 ENST00000372264.3 0.036036 1 PPAPDC3 84814 __UNKNOWN__ __UNKNOWN__ 9 134183913 134183913 __UNKNOWN__ 3'UTR SNP A A G rs2483476 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:134183913A>G ENST00000372264.3 + 0 1359 NM_032728.3 NP_116117.3 Q8NBV4 PPAC3_HUMAN phosphatidic acid phosphatase type 2 domain containing 3 NA NA negative regulation of myotube differentiation (GO:0010832) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635) hydrolase activity (GO:0016787) breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1) 16 all_hematologic(7;0.0119) OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173) TCTCCTCTCTAGGCAGCCAGG 0.602 NA a||| 3165 0.631989 0.4319 0.6499 5008 , , NA 18265 0.7321 NA 0.7416 False NA ,,, NA NA NA 2504 0.6738 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK027568 CCDS6942.1 9q34.2-q34.3 2008-02-26 2005-07-15 2005-07-15 ENSG00000160539 ENSG00000160539 84814 28174 protein-coding gene gene with protein product chromosome 9 open reading frame 67 C9orf67 NA 12958361 Standard NM_032728 NM_032728 NA Approved MGC12921, FLJ14662, NET39 uc004cal.2 Q8NBV4 OTTHUMG00000020822 ENST00000372264.3:c.*239A>G chr9.hg19:g.134183913A>G NA Q5T6P0|Q96SS7|Q9BRC3 hg19 CCDS6942.1 0.02 19.277228 TCTxGGC COVERED NOVEL PPAPDC3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054724.1 1 6.953804 KEEP 0 1 37 36 1097 AA 1 1 0 + 12 60 467 0 0 28.858703 401 60 14633 529 ENST00000372264.3 0.029056 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 134184672 134184672 __UNKNOWN__ IGR SNP C C T rs2260983 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:134184672C>T NA NA PPAPDC3 (23 upstream) : PRRC2B (84807 downstream) NA NA NA GCTTTTTCCTCATGCAATTCA 0.488 NA C||| 3165 0.631989 0.4304 0.6499 5008 , , NA 21221 0.7321 NA 0.7416 False NA ,,, NA NA NA 2504 0.6759 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.134184672C>T NA hg19 0.02 3.496379 CCTxATG COVERED NOVEL 0 0 3.244185 KEEP 0 1 26 20 702 CC 0.999869 0.999869 0 7 60 238 0 0 14.947455 139 60 5370 197 0.047945 1 PRRC2B 84726 __UNKNOWN__ __UNKNOWN__ 9 134346424 134346424 __UNKNOWN__ Intron SNP G G C rs77664147 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:134346424G>C ENST00000405995.1 + 14 2333 PRRC2B_ENST00000357304.4_Intron|PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000372249.1_Intron Q5JSZ5 PRC2B_HUMAN proline-rich coiled-coil 2B NA NA poly(A) RNA binding (GO:0044822) cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2) 44 TAGCGTGGTGGTCAAGGGTGT 0.522 NA G||| 776 0.154952 0.0234 0.219 5008 , , NA 17470 0.3284 NA 0.1441 False NA ,,, NA NA NA 2504 0.1196 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB011087 CCDS48044.1 9q34.13 2010-12-09 2010-12-09 2010-12-09 ENSG00000130723 ENSG00000130723 84726 28121 protein-coding gene gene with protein product KIAA0515, HLA-B associated transcript 2-like, HLA-B associated transcript 2-like 1 KIAA0515, BAT2L, BAT2L1 NA 9628581 Standard NM_013318 NA Approved MGC10526, LQFBS-1 uc004can.4 Q5JSZ5 OTTHUMG00000020827 ENST00000405995.1:c.2107+54G>C chr9.hg19:g.134346424G>C NA O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683 hg19 0.02 6.235672 GTGxTCA COVERED NOVEL PRRC2B-001 KNOWN basic protein_coding NA protein_coding OTTHUMT00000054751.1 1 10.834982 KEEP 0 0 0 36 1250 GG 0.999999 0.999999 0 + 9 60 333 0 0 21.722053 188 60 6875 265 ENST00000405995.1 0.045685 1 PRRC2B 84726 __UNKNOWN__ __UNKNOWN__ 9 134353724 134353724 __UNKNOWN__ Intron SNP C C T rs4076428 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:134353724C>T ENST00000405995.1 + 17 2756 PRRC2B_ENST00000357304.4_Intron|PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000372249.1_Intron Q5JSZ5 PRC2B_HUMAN proline-rich coiled-coil 2B NA NA poly(A) RNA binding (GO:0044822) cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2) 44 AGATCAGAGGCGGCCTGAGAA 0.522 NA OREG0019562 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) C||| 2346 0.46845 0.1203 0.4798 5008 , , NA 15435 0.8145 NA 0.3678 False NA ,,, NA NA NA 2504 0.6779 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB011087 CCDS48044.1 9q34.13 2010-12-09 2010-12-09 2010-12-09 ENSG00000130723 ENSG00000130723 84726 28121 protein-coding gene gene with protein product KIAA0515, HLA-B associated transcript 2-like, HLA-B associated transcript 2-like 1 KIAA0515, BAT2L, BAT2L1 NA 9628581 Standard NM_013318 NA Approved MGC10526, LQFBS-1 uc004can.4 Q5JSZ5 OTTHUMG00000020827 ENST00000405995.1:c.2531-137C>T chr9.hg19:g.134353724C>T 1610 O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683 hg19 0.02 1.719587 AGGxGGC COVERED NOVEL PRRC2B-001 KNOWN basic protein_coding NA protein_coding OTTHUMT00000054751.1 1 4.514284 KEEP 0 0 0 15 513 CC 0.99649 0.990215 0 + 4 60 129 0 0 8.290025 61 60 2183 86 ENST00000405995.1 0.061538 0.993703 MED27 9442 __UNKNOWN__ __UNKNOWN__ 9 134735580 134735580 __UNKNOWN__ 3'UTR SNP T T C rs2281998 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:134735580T>C ENST00000292035.5 - 0 1344 MED27_ENST00000357028.2_3'UTR NM_004269.3 NP_004260.2 Q6P2C8 MED27_HUMAN mediator complex subunit 27 NA NA gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367) cytoplasm (GO:0005737)|mediator complex (GO:0016592)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) transcription coactivator activity (GO:0003713) breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1) 18 Myeloproliferative disorder(178;0.206) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193) CGCATGACGATACCCATGAAC 0.488 NA T||| 925 0.184704 0.1309 0.2161 5008 , , NA 20520 0.374 NA 0.0328 False NA ,,, NA NA NA 2504 0.1963 NA NA NA Colon(41;784 923 6932 42329 52483) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF104252 CCDS6945.1, CCDS59153.1, CCDS69689.1 9q34.13 2008-02-05 2007-07-30 2007-07-30 ENSG00000160563 ENSG00000160563 9442 2377 protein-coding gene gene with protein product 605044 cofactor required for Sp1 transcriptional activation, subunit 8, 34kDa CRSP8 NA 9989412 Standard NM_004269 NM_004269 NA Approved TRAP37, CRSP34 uc004cbe.2 Q6P2C8 OTTHUMG00000020833 ENST00000292035.5:c.*345A>G chr9.hg19:g.134735580T>C NA O95401|Q4F964|Q5VTA4|Q5VTA5|Q9BU57|Q9NYR4|V9GYV9 hg19 CCDS6945.1 0.02 2.135206 CGAxACC COVERED NOVEL MED27-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054770.2 0 2.708095 KEEP 0 0 0 9 279 TT 0.99254 0.984693 0 - 5 60 167 0 0 11.505143 58 60 1955 78 ENST00000292035.5 0.079365 0.992094 NTNG2 84628 __UNKNOWN__ __UNKNOWN__ 9 135073877 135073877 __UNKNOWN__ Silent SNP C C T rs3824574 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:135073877C>T ENST00000393229.3 + 3 1514 c.738C>T c.(736-738)ttC>ttT p.F246F NTNG2_ENST00000360670.3_Silent_p.F246F|NTNG2_ENST00000372179.3_Silent_p.F246F|NTNG2_ENST00000393228.4_Silent_p.F246F NM_032536.2 NP_115925.2 Q96CW9 NTNG2_HUMAN netrin G2 246 Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}. NA axonogenesis (GO:0007409) anchored component of plasma membrane (GO:0046658)|axon (GO:0030424) central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 29 OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173) TCAAGGAGTTCTTCACCCTCA 0.647 NA C||| 1454 0.290335 0.1936 0.2493 5008 , , NA 18045 0.378 NA 0.3211 False NA ,,, NA NA NA 2504 0.3282 NA NA NA NA 0 C 847,3559 86,675,1442 49 53 52 738 2.1 1 9 dbSNP_107 52 2736,5860 441,1854,2003 no coding-synonymous NTNG2 NM_032536.2 527,2529,3445 TT,TC,CC 31.8288,19.2238,27.5573 246/531 135073877 3583,9419 2203 4298 6501 SO:0001819 synonymous_variant AB058760 CCDS6946.1 9q34 2013-03-01 2003-12-02 2003-12-03 ENSG00000196358 ENSG00000196358 84628 Netrins 14288 protein-coding gene gene with protein product Netrin-G2 netrin G1 NTNG1 NA Standard NM_032536 NM_032536 NA Approved KIAA1857, Lmnt2 uc004cbh.2 Q96CW9 OTTHUMG00000020835 ENST00000393229.3:c.738C>T chr9.hg19:g.135073877C>T NA Q5JUJ2|Q6UXY0|Q96JH0 hg19 CCDS6946.1 0.02 15.965022 GTTxTTC COVERED NOVEL NTNG2-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000054779.1 4 30.397591 KEEP 0 0 0 101 3527 CC 1 1 0 + 14 60 502 0 0 29.981132 424 60 15720 630 ENST00000393229.3 0.031963 1 NTNG2 84628 __UNKNOWN__ __UNKNOWN__ 9 135102254 135102254 __UNKNOWN__ Silent SNP C C T rs2149171 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:135102254C>T ENST00000393229.3 + 4 1652 c.876C>T c.(874-876)caC>caT p.H292H NTNG2_ENST00000360670.3_Silent_p.H292H|NTNG2_ENST00000372179.3_Silent_p.H292H|NTNG2_ENST00000393228.4_Silent_p.H292H NM_032536.2 NP_115925.2 Q96CW9 NTNG2_HUMAN netrin G2 292 Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}. NA axonogenesis (GO:0007409) anchored component of plasma membrane (GO:0046658)|axon (GO:0030424) central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 29 OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173) GCAACCTGCACGCCAACCTGT 0.647 NA C||| 2879 0.57488 0.5779 0.5879 5008 , , NA 19224 0.4306 NA 0.6243 False NA ,,, NA NA NA 2504 0.6595 NA NA NA NA 0 C 2510,1896 600.5+/-389.5 715,1080,408 39 33 35 876 -0.8 1 9 dbSNP_96 35 5334,3266 617.8+/-396.7 1648,2038,614 no coding-synonymous NTNG2 NM_032536.2 2363,3118,1022 TT,TC,CC 37.9767,43.0322,39.6894 292/531 135102254 7844,5162 2203 4300 6503 SO:0001819 synonymous_variant AB058760 CCDS6946.1 9q34 2013-03-01 2003-12-02 2003-12-03 ENSG00000196358 ENSG00000196358 84628 Netrins 14288 protein-coding gene gene with protein product Netrin-G2 netrin G1 NTNG1 NA Standard NM_032536 NM_032536 NA Approved KIAA1857, Lmnt2 uc004cbh.2 Q96CW9 OTTHUMG00000020835 ENST00000393229.3:c.876C>T chr9.hg19:g.135102254C>T NA Q5JUJ2|Q6UXY0|Q96JH0 hg19 CCDS6946.1 0.02 2.036493 GCAxGCC COVERED NOVEL NTNG2-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000054779.1 1 4.749586 KEEP 0 1 29 26 906 CC 0.999988 0.999927 0 + 5 60 186 0 0 12.434664 92 60 3324 154 ENST00000393229.3 0.051546 0.99994 NTNG2 84628 __UNKNOWN__ __UNKNOWN__ 9 135114365 135114365 __UNKNOWN__ Intron SNP G G A rs2274853 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:135114365G>A ENST00000393229.3 + 6 1830 NTNG2_ENST00000360670.3_Missense_Mutation_p.G349S|NTNG2_ENST00000393228.4_Intron NM_032536.2 NP_115925.2 Q96CW9 NTNG2_HUMAN netrin G2 NA NA axonogenesis (GO:0007409) anchored component of plasma membrane (GO:0046658)|axon (GO:0030424) central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 29 OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173) GGCACCTTCCGGTACCTTTTC 0.597 NA G||| 1302 0.259984 0.2231 0.3501 5008 , , NA 21037 0.3204 NA 0.1501 False NA ,,, NA NA NA 2504 0.2965 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB058760 CCDS6946.1 9q34 2013-03-01 2003-12-02 2003-12-03 ENSG00000196358 ENSG00000196358 84628 Netrins 14288 protein-coding gene gene with protein product Netrin-G2 netrin G1 NTNG1 NA Standard NM_032536 NM_032536 NA Approved KIAA1857, Lmnt2 uc004cbh.2 Q96CW9 OTTHUMG00000020835 ENST00000393229.3:c.1055-126G>A chr9.hg19:g.135114365G>A NA Q5JUJ2|Q6UXY0|Q96JH0 hg19 CCDS6946.1 0.02 19.962198 TCCxGTA COVERED 546 0.25 118 0.23983739837398374 114 0.3149171270718232 197 0.34440559440559443 117 0.15435356200527706 G 0.041 -1.286223 0.01387 . . ENSG00000196358 ENST00000360670 T 0.39406 1.08 4.05 -8.09 0.01090 . 1.876480 0.02521 N 0.092592 T 0.00012 0.0000 . . . 0.58432 P 1.0000000000287557E-6 . . . . . . T 0.03728 -1.1009 6 0.02654 T 1 . 2.5081 0.04650 0.4171:0.3141:0.1591:0.1096 rs2274853;rs56479794;rs61020290;rs2274853 . . . S 349 ENSP00000353888:G349S ENSP00000353888:G349S G + 1 0 NTNG2 134104186 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -3.013000 0.00646 -3.870000 0.00097 -2.113000 0.00352 GGT NOVEL NTNG2-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000054779.1 4 7.457121 KEEP 0 1 32 36 1190 GG 1 1 0 + 27 60 1004 0 0 68.110719 455 60 15234 591 ENST00000393229.3 0.056017 1 NTNG2 84628 __UNKNOWN__ __UNKNOWN__ 9 135117741 135117741 __UNKNOWN__ 3'UTR SNP G G A rs11243684 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:135117741G>A ENST00000393229.3 + 0 2612 NTNG2_ENST00000360670.3_3'UTR|NTNG2_ENST00000393228.4_3'UTR NM_032536.2 NP_115925.2 Q96CW9 NTNG2_HUMAN netrin G2 NA NA axonogenesis (GO:0007409) anchored component of plasma membrane (GO:0046658)|axon (GO:0030424) central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 29 OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173) TGTATTATCCGCCGCCCAGTT 0.587 NA G||| 2276 0.454473 0.584 0.4669 5008 , , NA 9649 0.4613 NA 0.3091 False NA ,,, NA NA NA 2504 0.4131 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB058760 CCDS6946.1 9q34 2013-03-01 2003-12-02 2003-12-03 ENSG00000196358 ENSG00000196358 84628 Netrins 14288 protein-coding gene gene with protein product Netrin-G2 netrin G1 NTNG1 NA Standard NM_032536 NM_032536 NA Approved KIAA1857, Lmnt2 uc004cbh.2 Q96CW9 OTTHUMG00000020835 ENST00000393229.3:c.*243G>A chr9.hg19:g.135117741G>A NA Q5JUJ2|Q6UXY0|Q96JH0 hg19 CCDS6946.1 0.02 1.941065 TCCxCCG COVERED NOVEL NTNG2-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000054779.1 1 15.64711 KEEP 0 0 0 52 1687 GG 1 0.999726 0 + 5 60 182 0 0 12.602447 71 60 2171 176 ENST00000393229.3 0.065789 0.999726 NTNG2 84628 __UNKNOWN__ __UNKNOWN__ 9 135118584 135118584 __UNKNOWN__ 3'UTR SNP T T G rs2274852 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:135118584T>G ENST00000393229.3 + 0 3455 NM_032536.2 NP_115925.2 Q96CW9 NTNG2_HUMAN netrin G2 NA NA axonogenesis (GO:0007409) anchored component of plasma membrane (GO:0046658)|axon (GO:0030424) central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 29 OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173) ATACTGTGTCTCGGTGGCCAC 0.507 NA T||| 2419 0.483027 0.677 0.4769 5008 , , NA 17181 0.4613 NA 0.3091 False NA ,,, NA NA NA 2504 0.4264 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB058760 CCDS6946.1 9q34 2013-03-01 2003-12-02 2003-12-03 ENSG00000196358 ENSG00000196358 84628 Netrins 14288 protein-coding gene gene with protein product Netrin-G2 netrin G1 NTNG1 NA Standard NM_032536 NM_032536 NA Approved KIAA1857, Lmnt2 uc004cbh.2 Q96CW9 OTTHUMG00000020835 ENST00000393229.3:c.*1086T>G chr9.hg19:g.135118584T>G NA Q5JUJ2|Q6UXY0|Q96JH0 hg19 CCDS6946.1 0.02 9.035928 GTCxCGG COVERED NOVEL NTNG2-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000054779.1 0 20.461027 KEEP 0 0 0 68 2133 TT 1 1 0 + 12 60 418 0 0 27.642454 195 60 7134 348 ENST00000393229.3 0.057971 1 NTNG2 84628 __UNKNOWN__ __UNKNOWN__ 9 135118907 135118907 __UNKNOWN__ 3'UTR SNP C C T rs11789039 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:135118907C>T ENST00000393229.3 + 0 3778 NM_032536.2 NP_115925.2 Q96CW9 NTNG2_HUMAN netrin G2 NA NA axonogenesis (GO:0007409) anchored component of plasma membrane (GO:0046658)|axon (GO:0030424) central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 29 OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173) GTGTCTCCAGCCCTGGGGCCA 0.607 NA C||| 2281 0.455471 0.5825 0.4669 5008 , , NA 11639 0.4593 NA 0.3082 False NA ,,, NA NA NA 2504 0.4233 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB058760 CCDS6946.1 9q34 2013-03-01 2003-12-02 2003-12-03 ENSG00000196358 ENSG00000196358 84628 Netrins 14288 protein-coding gene gene with protein product Netrin-G2 netrin G1 NTNG1 NA Standard NM_032536 NM_032536 NA Approved KIAA1857, Lmnt2 uc004cbh.2 Q96CW9 OTTHUMG00000020835 ENST00000393229.3:c.*1409C>T chr9.hg19:g.135118907C>T NA Q5JUJ2|Q6UXY0|Q96JH0 hg19 CCDS6946.1 0.02 8.299325 CAGxCCT COVERED NOVEL NTNG2-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000054779.1 1 26.775992 KEEP 0 0 0 89 3121 CC 1 1 0 + 10 60 346 0 0 21.464826 224 60 8255 411 ENST00000393229.3 0.042735 1 NTNG2 84628 __UNKNOWN__ __UNKNOWN__ 9 135118977 135118977 __UNKNOWN__ 3'UTR SNP G G C rs11243685 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:135118977G>C ENST00000393229.3 + 0 3848 NM_032536.2 NP_115925.2 Q96CW9 NTNG2_HUMAN netrin G2 NA NA axonogenesis (GO:0007409) anchored component of plasma membrane (GO:0046658)|axon (GO:0030424) central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 29 OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173) AGTGCCGGGGGTCCGGTCCTG 0.607 NA G||| 2485 0.496206 0.7269 0.4798 5008 , , NA 17344 0.4593 NA 0.3101 False NA ,,, NA NA NA 2504 0.4254 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB058760 CCDS6946.1 9q34 2013-03-01 2003-12-02 2003-12-03 ENSG00000196358 ENSG00000196358 84628 Netrins 14288 protein-coding gene gene with protein product Netrin-G2 netrin G1 NTNG1 NA Standard NM_032536 NM_032536 NA Approved KIAA1857, Lmnt2 uc004cbh.2 Q96CW9 OTTHUMG00000020835 ENST00000393229.3:c.*1479G>C chr9.hg19:g.135118977G>C NA Q5JUJ2|Q6UXY0|Q96JH0 hg19 CCDS6946.1 0.02 7.084103 GGGxTCC COVERED NOVEL NTNG2-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000054779.1 2 17.430313 KEEP 0 0 0 58 2017 GG 1 1 0 + 10 60 384 0 0 26.697164 159 60 5647 259 ENST00000393229.3 0.059172 1 NTNG2 84628 __UNKNOWN__ __UNKNOWN__ 9 135119472 135119472 __UNKNOWN__ 3'UTR SNP C C G rs876952 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:135119472C>G ENST00000393229.3 + 0 4343 NM_032536.2 NP_115925.2 Q96CW9 NTNG2_HUMAN netrin G2 NA NA axonogenesis (GO:0007409) anchored component of plasma membrane (GO:0046658)|axon (GO:0030424) central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 29 OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173) gtaagcaggactgatgggtgg 0.512 NA G||| 2483 0.495807 0.7042 0.4827 5008 , , NA 18051 0.4653 NA 0.3141 False NA ,,, NA NA NA 2504 0.4417 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB058760 CCDS6946.1 9q34 2013-03-01 2003-12-02 2003-12-03 ENSG00000196358 ENSG00000196358 84628 Netrins 14288 protein-coding gene gene with protein product Netrin-G2 netrin G1 NTNG1 NA Standard NM_032536 NM_032536 NA Approved KIAA1857, Lmnt2 uc004cbh.2 Q96CW9 OTTHUMG00000020835 ENST00000393229.3:c.*1974C>G chr9.hg19:g.135119472C>G NA Q5JUJ2|Q6UXY0|Q96JH0 hg19 CCDS6946.1 0.02 13.784109 GGAxTGA COVERED NOVEL NTNG2-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000054779.1 0 15.349923 KEEP 0 0 0 51 1824 CC 1 1 0 + 24 60 879 0 0 62.302609 300 60 11302 442 ENST00000393229.3 0.074074 1 NTNG2 84628 __UNKNOWN__ __UNKNOWN__ 9 135119584 135119584 __UNKNOWN__ 3'UTR SNP G G A rs876953 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:135119584G>A ENST00000393229.3 + 0 4455 NM_032536.2 NP_115925.2 Q96CW9 NTNG2_HUMAN netrin G2 NA NA axonogenesis (GO:0007409) anchored component of plasma membrane (GO:0046658)|axon (GO:0030424) central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 29 OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173) CCCTCCCTCTGCTCTTCAGTC 0.527 NA G||| 1372 0.273962 0.2262 0.3718 5008 , , NA 17652 0.3294 NA 0.169 False NA ,,, NA NA NA 2504 0.32 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB058760 CCDS6946.1 9q34 2013-03-01 2003-12-02 2003-12-03 ENSG00000196358 ENSG00000196358 84628 Netrins 14288 protein-coding gene gene with protein product Netrin-G2 netrin G1 NTNG1 NA Standard NM_032536 NM_032536 NA Approved KIAA1857, Lmnt2 uc004cbh.2 Q96CW9 OTTHUMG00000020835 ENST00000393229.3:c.*2086G>A chr9.hg19:g.135119584G>A NA Q5JUJ2|Q6UXY0|Q96JH0 hg19 CCDS6946.1 0.02 8.076806 TCTxCTC COVERED NOVEL NTNG2-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000054779.1 2 17.758596 KEEP 0 0 0 59 2144 GG 1 1 0 + 17 60 591 0 0 41.443313 197 60 7394 343 ENST00000393229.3 0.079439 1 SETX 23064 __UNKNOWN__ __UNKNOWN__ 9 135138261 135138261 __UNKNOWN__ 3'UTR SNP C C A rs7875801 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:135138261C>A ENST00000224140.5 - 0 9581 SETX_ENST00000372169.2_3'UTR|SETX_ENST00000393220.1_3'UTR|SETX_ENST00000477049.1_5'UTR NM_015046.5 NP_055861.3 Q7Z333 SETX_HUMAN senataxin NA NA cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369) cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678) breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) GCATTCACTACAGATCCCTAG 0.403 NA C||| 755 0.150759 0.1346 0.0605 5008 , , NA 19738 0.3591 NA 0.0308 False NA ,,, NA NA NA 2504 0.1452 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB014525 CCDS6947.1 9q34 2014-09-17 2005-11-29 2005-11-29 ENSG00000107290 ENSG00000107290 23064 445 protein-coding gene gene with protein product 608465 amyotrophic lateral sclerosis 4, spinocerebellar ataxia, recessive, non-Friedreich type 1 ALS4, SCAR1 NA 9497266, 11022012 Standard NM_015046 NM_015046 NA Approved KIAA0625, AOA2 uc004cbk.3 Q7Z333 OTTHUMG00000020834 ENST00000224140.5:c.*1365G>T chr9.hg19:g.135138261C>A NA A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9 hg19 CCDS6947.1 0.02 9.72557 CTAxAGA COVERED NOVEL SETX-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054774.3 2 14.446849 KEEP 0 0 0 48 1704 CC 1 1 0 - 9 60 351 1 0 23.321168 198 60 7488 314 ENST00000224140.5 0.043478 1 SETX 23064 __UNKNOWN__ __UNKNOWN__ 9 135139000 135139000 __UNKNOWN__ 3'UTR SNP G G A rs11795382 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:135139000G>A ENST00000224140.5 - 0 8842 SETX_ENST00000372169.2_3'UTR|SETX_ENST00000393220.1_3'UTR|SETX_ENST00000477049.1_5'UTR NM_015046.5 NP_055861.3 Q7Z333 SETX_HUMAN senataxin NA NA cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369) cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678) breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) ATGTCAGCAAGACTTTACCTA 0.433 NA G||| 894 0.178514 0.1475 0.1643 5008 , , NA 16656 0.2827 NA 0.1561 False NA ,,, NA NA NA 2504 0.1462 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB014525 CCDS6947.1 9q34 2014-09-17 2005-11-29 2005-11-29 ENSG00000107290 ENSG00000107290 23064 445 protein-coding gene gene with protein product 608465 amyotrophic lateral sclerosis 4, spinocerebellar ataxia, recessive, non-Friedreich type 1 ALS4, SCAR1 NA 9497266, 11022012 Standard NM_015046 NM_015046 NA Approved KIAA0625, AOA2 uc004cbk.3 Q7Z333 OTTHUMG00000020834 ENST00000224140.5:c.*626C>T chr9.hg19:g.135139000G>A NA A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9 hg19 CCDS6947.1 0.02 5.633252 CAAxACT COVERED NOVEL SETX-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054774.3 0 7.524312 KEEP 0 0 0 25 895 GG 0.999931 0.999931 0 - 6 60 210 0 0 12.893312 146 60 5523 214 ENST00000224140.5 0.039474 1 SETX 23064 __UNKNOWN__ __UNKNOWN__ 9 135158619 135158619 __UNKNOWN__ Intron SNP A A T rs2296873 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:135158619A>T ENST00000224140.5 - 19 6729 SETX_ENST00000372169.2_Intron|SETX_ENST00000393220.1_Intron NM_015046.5 NP_055861.3 Q7Z333 SETX_HUMAN senataxin NA NA cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369) cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678) breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) TCATAGTAGTAGTCAAAGTTG 0.423 NA A||| 777 0.155152 0.1452 0.062 5008 , , NA 19856 0.3651 NA 0.0308 False NA ,,, NA NA NA 2504 0.1462 NA NA NA NA 0 A 553,3853 250.6+/-257.6 37,479,1687 64 57 60 1.8 0 9 dbSNP_100 60 225,8375 92.1+/-154.2 4,217,4079 no intron SETX NM_015046.5 41,696,5766 TT,TA,AA 2.6163,12.5511,5.9819 135158619 778,12228 2203 4300 6503 SO:0001627 intron_variant AB014525 CCDS6947.1 9q34 2014-09-17 2005-11-29 2005-11-29 ENSG00000107290 ENSG00000107290 23064 445 protein-coding gene gene with protein product 608465 amyotrophic lateral sclerosis 4, spinocerebellar ataxia, recessive, non-Friedreich type 1 ALS4, SCAR1 NA 9497266, 11022012 Standard NM_015046 NM_015046 NA Approved KIAA0625, AOA2 uc004cbk.3 Q7Z333 OTTHUMG00000020834 ENST00000224140.5:c.6546+31T>A chr9.hg19:g.135158619A>T NA A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9 hg19 CCDS6947.1 0.02 8.847644 AGTxGTC COVERED NOVEL SETX-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054774.3 0 9.559896 KEEP 0 1 26 41 1268 AA 1 1 0 - 11 60 410 0 0 27.354788 206 60 7317 310 ENST00000224140.5 0.050691 1 SETX 23064 __UNKNOWN__ __UNKNOWN__ 9 135203530 135203530 __UNKNOWN__ Missense_Mutation SNP A A C rs3739922 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:135203530A>C ENST00000224140.5 - 10 3637 c.3455T>G c.(3454-3456)tTt>tGt p.F1152C SETX_ENST00000372169.2_Missense_Mutation_p.F1152C|SETX_ENST00000393220.1_Missense_Mutation_p.F1152C NM_015046.5 NP_055861.3 Q7Z333 SETX_HUMAN senataxin 1152 NA F -> C (in dbSNP:rs3739922). {ECO:0000269|PubMed:14770181}. cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369) cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678) breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) AATTTCACAAAATTCTTCAAC 0.398 NA A||| 449 0.0896565 0.0492 0.062 5008 , , NA 18778 0.2371 NA 0.0328 False NA ,,, NA NA NA 2504 0.0706 NA NA NA NA 0 A CYS/PHE 211,4195 128.6+/-165.4 0,211,1992 90 93 92 3455 1.8 0 9 dbSNP_107 92 289,8311 107.6+/-168.3 5,279,4016 yes missense SETX NM_015046.5 205 5,490,6008 CC,CA,AA 3.3605,4.7889,3.8444 benign 1152/2678 135203530 500,12506 2203 4300 6503 SO:0001583 missense AB014525 CCDS6947.1 9q34 2014-09-17 2005-11-29 2005-11-29 ENSG00000107290 ENSG00000107290 23064 445 protein-coding gene gene with protein product 608465 amyotrophic lateral sclerosis 4, spinocerebellar ataxia, recessive, non-Friedreich type 1 ALS4, SCAR1 NA 9497266, 11022012 Standard NM_015046 NM_015046 NA Approved KIAA0625, AOA2 uc004cbk.3 Q7Z333 OTTHUMG00000020834 ENST00000224140.5:c.3455T>G chr9.hg19:g.135203530A>C ENSP00000224140:p.Phe1152Cys NA A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9 hg19 CCDS6947.1 0.02 16.958287 CAAxATT COVERED 216 0.0989010989010989 19 0.03861788617886179 20 0.055248618784530384 149 0.26048951048951047 28 0.036939313984168866 A 11.34 1.608425 0.28623 0.047889 0.033605 ENSG00000107290 ENST00000224140;ENST00000372169;ENST00000393220 D;D;D 0.86769 -2.08;-2.17;-1.79 5.62 1.75 0.24633 . 4.607390 0.00166 N 0.000006 T 0.00039 0.0001 L 0.34521 1.04 0.80722 P 0.0 B;B;B 0.14438 0.01;0.003;0.01 B;B;B 0.14023 0.01;0.002;0.01 T 0.13469 -1.0508 9 0.46703 T 0.11 . 5.0594 0.14550 0.5409:0.2953:0.1637:0.0 rs3739922;rs52804863;rs3739922 1152;1152;1152 Q7Z333-3;Q7Z333;Q7Z333-4 .;SETX_HUMAN;. C 1152 ENSP00000224140:F1152C;ENSP00000361242:F1152C;ENSP00000376913:F1152C ENSP00000224140:F1152C F - 2 0 SETX 134193351 0.007000 0.16637 0.004000 0.12327 0.207000 0.24258 1.533000 0.36040 0.401000 0.25424 0.528000 0.53228 TTT NOVEL SETX-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054774.3 5 24.673095 KEEP 0 0 0 82 2568 AA 1 1 0 - 14 60 543 0 0 35.099753 357 60 12848 543 ENST00000224140.5 0.037736 1 SETX 23064 __UNKNOWN__ __UNKNOWN__ 9 135205006 135205006 __UNKNOWN__ Missense_Mutation SNP G G C rs882709 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:135205006G>C ENST00000224140.5 - 10 2161 c.1979C>G c.(1978-1980)gCa>gGa p.A660G SETX_ENST00000372169.2_Missense_Mutation_p.A660G|SETX_ENST00000393220.1_Missense_Mutation_p.A660G NM_015046.5 NP_055861.3 Q7Z333 SETX_HUMAN senataxin 660 NA A -> G (in dbSNP:rs882709). cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369) cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678) breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) AGTGTTATCTGCTTTGATCAA 0.378 NA G||| 1070 0.213658 0.2738 0.0908 5008 , , NA 21088 0.4117 NA 0.0606 False NA ,,, NA NA NA 2504 0.1728 NA NA NA NA 0 G GLY/ALA 982,3424 369.1+/-318.9 113,756,1334 97 93 95 1979 2.1 0 9 dbSNP_86 95 498,8100 143.4+/-199.5 16,466,3817 yes missense SETX NM_015046.5 60 129,1222,5151 CC,CG,GG 5.792,22.2878,11.3811 benign 660/2678 135205006 1480,11524 2203 4299 6502 SO:0001583 missense AB014525 CCDS6947.1 9q34 2014-09-17 2005-11-29 2005-11-29 ENSG00000107290 ENSG00000107290 23064 445 protein-coding gene gene with protein product 608465 amyotrophic lateral sclerosis 4, spinocerebellar ataxia, recessive, non-Friedreich type 1 ALS4, SCAR1 NA 9497266, 11022012 Standard NM_015046 NM_015046 NA Approved KIAA0625, AOA2 uc004cbk.3 Q7Z333 OTTHUMG00000020834 ENST00000224140.5:c.1979C>G chr9.hg19:g.135205006G>C ENSP00000224140:p.Ala660Gly NA A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9 hg19 CCDS6947.1 0.02 6.378904 TCTxCTT COVERED 458 0.2097069597069597 131 0.266260162601626 34 0.09392265193370165 243 0.42482517482517484 50 0.06596306068601583 G 11.41 1.629456 0.28978 0.222878 0.05792 ENSG00000107290 ENST00000224140;ENST00000372169;ENST00000393220 D;D;D 0.87571 -2.18;-2.27;-1.88 5.37 2.12 0.27331 . 1.813340 0.03700 U 0.248429 T 0.00012 0.0000 L 0.32530 0.975 0.80722 P 0.0 P;B;P 0.40731 0.728;0.421;0.728 B;B;B 0.41764 0.366;0.154;0.366 T 0.04153 -1.0973 9 0.35671 T 0.21 . 6.9477 0.24528 0.1947:0.1851:0.6202:0.0 rs882709;rs60311424;rs882709 660;660;660 Q7Z333-3;Q7Z333;Q7Z333-4 .;SETX_HUMAN;. G 660 ENSP00000224140:A660G;ENSP00000361242:A660G;ENSP00000376913:A660G ENSP00000224140:A660G A - 2 0 SETX 134194827 0.001000 0.12720 0.003000 0.11579 0.048000 0.14542 0.949000 0.29109 0.575000 0.29434 0.555000 0.69702 GCA NOVEL SETX-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054774.3 1 9.630957 KEEP 0 0 0 32 1121 GG 0.999997 0.999997 0 - 10 60 366 0 0 24.315966 182 60 6917 256 ENST00000224140.5 0.052083 1 SETX 23064 __UNKNOWN__ __UNKNOWN__ 9 135218047 135218047 __UNKNOWN__ Intron SNP A A G rs11790312 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:135218047A>G ENST00000224140.5 - 5 681 SETX_ENST00000372169.2_Intron|SETX_ENST00000393220.1_Intron NM_015046.5 NP_055861.3 Q7Z333 SETX_HUMAN senataxin NA NA cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369) cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678) breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) AGCACAATATACCCTTCTATC 0.343 NA A||| 487 0.0972444 0.0658 0.072 5008 , , NA 16832 0.2361 NA 0.0437 False NA ,,, NA NA NA 2504 0.0695 NA NA NA NA 0 A 283,4123 157.4+/-190.3 4,275,1924 170 176 174 -8.9 0 9 dbSNP_120 174 370,8230 123.1+/-182.0 9,352,3939 no intron SETX NM_015046.5 13,627,5863 GG,GA,AA 4.3023,6.4231,5.0208 135218047 653,12353 2203 4300 6503 SO:0001627 intron_variant AB014525 CCDS6947.1 9q34 2014-09-17 2005-11-29 2005-11-29 ENSG00000107290 ENSG00000107290 23064 445 protein-coding gene gene with protein product 608465 amyotrophic lateral sclerosis 4, spinocerebellar ataxia, recessive, non-Friedreich type 1 ALS4, SCAR1 NA 9497266, 11022012 Standard NM_015046 NM_015046 NA Approved KIAA0625, AOA2 uc004cbk.3 Q7Z333 OTTHUMG00000020834 ENST00000224140.5:c.498+29T>C chr9.hg19:g.135218047A>G NA A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9 hg19 CCDS6947.1 0.02 13.787388 TATxCCC COVERED NOVEL SETX-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054774.3 4 27.367504 KEEP 0 0 0 91 2713 AA 1 1 0 - 10 60 382 0 0 23.452867 325 60 11414 543 ENST00000224140.5 0.029851 1 TTF1 7270 __UNKNOWN__ __UNKNOWN__ 9 135277130 135277130 __UNKNOWN__ Missense_Mutation SNP C C A rs3739915 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:135277130C>A ENST00000334270.2 - 2 1118 c.1079G>T c.(1078-1080)gGa>gTa p.G360V NM_001205296.1|NM_007344.3 NP_001192225.1|NP_031370.2 Q15361 TTF1_HUMAN transcription termination factor, RNA polymerase I 360 NA G -> V (in dbSNP:rs3739915). chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361) cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886) chromatin binding (GO:0003682)|DNA binding (GO:0003677) endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05) CACCTGTGATCCTTCAGGGTA 0.448 NA C||| 481 0.0960463 0.0408 0.0807 5008 , , NA 20873 0.246 NA 0.0527 False NA ,,, NA NA NA 2504 0.0716 NA NA NA NA 0 C ,VAL/GLY 215,4191 130.6+/-167.2 0,215,1988 155 140 145 ,1079 1.1 0 9 dbSNP_107 145 404,8196 128.8+/-187.0 7,390,3903 yes intron,missense TTF1 NM_001205296.1,NM_007344.3 ,109 7,605,5891 AA,AC,CC 4.6977,4.8797,4.7593 ,probably-damaging ,360/906 135277130 619,12387 2203 4300 6503 SO:0001583 missense BC050734 CCDS6948.1, CCDS75925.1 9q34.3 2008-02-05 ENSG00000125482 ENSG00000125482 7270 12397 protein-coding gene gene with protein product 600777 NA 7597036 Standard NM_007344 NM_007344 NA Approved uc004cbl.3 Q15361 OTTHUMG00000020836 ENST00000334270.2:c.1079G>T chr9.hg19:g.135277130C>A ENSP00000333920:p.Gly360Val NA A1L160|Q4VXF3|Q58EY2|Q6P5T5 hg19 CCDS6948.1 0.02 13.355639 GATxCTT COVERED 235 0.10760073260073261 21 0.042682926829268296 26 0.0718232044198895 148 0.25874125874125875 40 0.052770448548812667 C 14.18 2.459471 0.43736 0.048797 0.046977 ENSG00000125482 ENST00000334270;ENST00000245588 T 0.11063 2.81 5.09 1.12 0.20585 . 1.518420 0.03910 N 0.281816 T 0.00012 0.0000 L 0.48642 1.525 0.80722 P 0.0 P 0.50943 0.94 P 0.46144 0.505 T 0.35475 -0.9787 9 0.22706 T 0.39 . 4.2753 0.10806 0.0:0.5508:0.1695:0.2797 rs3739915;rs52828446;rs57984098;rs3739915 360 Q15361 TTF1_HUMAN V 360 ENSP00000333920:G360V ENSP00000245588:G360V G - 2 0 TTF1 134266951 0.000000 0.05858 0.000000 0.03702 0.002000 0.02628 -0.088000 0.11198 0.255000 0.21593 -0.140000 0.14226 GGA NOVEL TTF1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054784.2 3 15.95172 KEEP 0 0 0 53 1854 CC 1 1 0 - 12 60 417 0 0 24.610415 347 60 12775 497 ENST00000334270.2 0.033426 1 C9orf171 389799 __UNKNOWN__ __UNKNOWN__ 9 135374764 135374764 __UNKNOWN__ Missense_Mutation SNP G G A rs7047726 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:135374764G>A ENST00000393215.3 + 3 530 c.301G>A c.(301-303)Gga>Aga p.G101R C9orf171_ENST00000343036.2_Missense_Mutation_p.G137R|C9orf171_ENST00000393216.2_Missense_Mutation_p.G101R Q6ZQR2 CI171_HUMAN chromosome 9 open reading frame 171 137 NA large_intestine(7)|lung(9)|ovary(4)|prostate(3) 23 CTCAGCCATCGGACGCTGGAA 0.642 NA G||| 933 0.186302 0.1021 0.1354 5008 , , NA 16862 0.4792 NA 0.0716 False NA ,,, NA NA NA 2504 0.1524 NA NA NA NA 0 G ARG/GLY 432,3974 206.2+/-227.9 23,386,1794 49 50 49 409 5.3 1 9 dbSNP_116 49 703,7897 171.7+/-222.6 32,639,3629 yes missense C9orf171 NM_207417.1 125 55,1025,5423 AA,AG,GG 8.1744,9.8048,8.7267 probably-damaging 137/321 135374764 1135,11871 2203 4300 6503 SO:0001583 missense AK128819 CCDS6949.1, CCDS65167.1 9q34.13 2012-04-03 ENSG00000188523 ENSG00000188523 389799 33776 protein-coding gene gene with protein product NA Standard NM_207417 NM_207417 NA Approved FLJ46082 uc004cbn.3 Q6ZQR2 OTTHUMG00000131684 ENST00000393215.3:c.301G>A chr9.hg19:g.135374764G>A ENSP00000376908:p.Gly101Arg NA Q147X1 hg19 0.02 11.38855 ATCxGAC COVERED 406 0.1858974358974359 53 0.10772357723577236 46 0.1270718232044199 249 0.4353146853146853 58 0.07651715039577836 G 22.2 4.260770 0.80246 0.098048 0.081744 ENSG00000188523 ENST00000393215;ENST00000343036;ENST00000393216 T;T;T 0.22134 1.97;1.97;1.97 5.26 5.26 0.73747 . 0.324081 0.29233 N 0.012760 T 0.00012 0.0000 L 0.36672 1.1 0.23834 P 0.99671562 P;D 0.54207 0.956;0.965 B;P 0.49140 0.301;0.601 T 0.54036 -0.8353 9 0.42905 T 0.14 . 18.212 0.89873 0.0:0.0:1.0:0.0 rs7047726;rs52813020;rs59419701;rs7047726 101;137 Q6ZQR2-2;Q6ZQR2 .;CI171_HUMAN R 101;137;101 ENSP00000376908:G101R;ENSP00000343290:G137R;ENSP00000376909:G101R ENSP00000343290:G137R G + 1 0 C9orf171 134364585 1.000000 0.71417 0.992000 0.48379 0.835000 0.47333 4.531000 0.60602 2.618000 0.88619 0.561000 0.74099 GGA NOVEL C9orf171-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000254590.1 1 9.564623 KEEP 0 1 32 43 1438 GG 1 1 0 + 11 60 411 0 0 26.427034 257 60 8872 393 ENST00000393215.3 0.041045 1 GTF3C4 9329 __UNKNOWN__ __UNKNOWN__ 9 135562746 135562746 __UNKNOWN__ Intron SNP T T G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:135562746T>G ENST00000372146.4 + 4 2968 NM_012204.2 NP_036336.2 Q9UKN8 TF3C4_HUMAN general transcription factor IIIC, polypeptide 4, 90kDa NA NA 5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|positive regulation of catalytic activity (GO:0043085)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797) nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127) DNA binding (GO:0003677)|enzyme activator activity (GO:0008047)|histone acetyltransferase activity (GO:0004402) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05) GGAGGGTGGGTGGGTGGAACA 0.557 NA NA NA NA NA NA NA NA NA NA Pancreas(142;417 1875 11086 31973 47667) NA 0 40 43 42 NA NA 9 NA 135562746 2203 4300 6503 SO:0001627 intron_variant AF142328 CCDS6953.1 9q34.3 2011-07-01 2002-08-29 ENSG00000125484 ENSG00000125484 9329 Chromatin-modifying enzymes / K-acetyltransferases, General transcription factors 4667 protein-coding gene gene with protein product 604892 general transcription factor IIIC, polypeptide 4 (90kD) NA 10523658 Standard NM_012204 NA Approved TFIIIC90, KAT12 uc010mzv.3 Q9UKN8 OTTHUMG00000020842 ENST00000372146.4:c.2404+32T>G chr9.hg19:g.135562746T>G NA Q5VZJ7 hg19 CCDS6953.1 0.02 -0.292124 GGGxGGG COVERED NOVEL GTF3C4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054792.1 0 2.344628 KEEP 0 0 0 8 179 TT 0.99257 0.775257 0 + 10 60 143 0 0 10.091209 24 60 559 54 ENST00000372146.4 0.294118 0.78106 GTF3C4 9329 __UNKNOWN__ __UNKNOWN__ 9 135566174 135566174 __UNKNOWN__ 3'UTR SNP A A G rs459751 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:135566174A>G ENST00000372146.4 + 0 4875 NM_012204.2 NP_036336.2 Q9UKN8 TF3C4_HUMAN general transcription factor IIIC, polypeptide 4, 90kDa NA NA 5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|positive regulation of catalytic activity (GO:0043085)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797) nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127) DNA binding (GO:0003677)|enzyme activator activity (GO:0008047)|histone acetyltransferase activity (GO:0004402) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05) TTTTCACTTTACAATAAATAA 0.338 NA A||| 2569 0.512979 0.6498 0.4971 5008 , , NA 16409 0.5724 NA 0.4036 False NA ,,, NA NA NA 2504 0.3906 NA NA NA Pancreas(142;417 1875 11086 31973 47667) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF142328 CCDS6953.1 9q34.3 2011-07-01 2002-08-29 ENSG00000125484 ENSG00000125484 9329 Chromatin-modifying enzymes / K-acetyltransferases, General transcription factors 4667 protein-coding gene gene with protein product 604892 general transcription factor IIIC, polypeptide 4 (90kD) NA 10523658 Standard NM_012204 NA Approved TFIIIC90, KAT12 uc010mzv.3 Q9UKN8 OTTHUMG00000020842 ENST00000372146.4:c.*1842A>G chr9.hg19:g.135566174A>G NA Q5VZJ7 hg19 CCDS6953.1 0.02 11.890583 TTTxCAA COVERED NOVEL GTF3C4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054792.1 2 7.08836 KEEP 0 2 73 49 1498 AA 1 1 0 + 11 60 429 0 0 28.026964 268 60 9394 386 ENST00000372146.4 0.039427 1 GTF3C4 9329 __UNKNOWN__ __UNKNOWN__ 9 135566518 135566518 __UNKNOWN__ 3'UTR SNP G G A rs505086 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:135566518G>A ENST00000372146.4 + 0 5219 NM_012204.2 NP_036336.2 Q9UKN8 TF3C4_HUMAN general transcription factor IIIC, polypeptide 4, 90kDa NA NA 5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|positive regulation of catalytic activity (GO:0043085)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797) nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127) DNA binding (GO:0003677)|enzyme activator activity (GO:0008047)|histone acetyltransferase activity (GO:0004402) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05) GCCTCCCCCAGGTTTCCACAC 0.517 NA A||| 2569 0.512979 0.6498 0.4971 5008 , , NA 18109 0.5724 NA 0.4036 False NA ,,, NA NA NA 2504 0.3906 NA NA NA Pancreas(142;417 1875 11086 31973 47667) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF142328 CCDS6953.1 9q34.3 2011-07-01 2002-08-29 ENSG00000125484 ENSG00000125484 9329 Chromatin-modifying enzymes / K-acetyltransferases, General transcription factors 4667 protein-coding gene gene with protein product 604892 general transcription factor IIIC, polypeptide 4 (90kD) NA 10523658 Standard NM_012204 NA Approved TFIIIC90, KAT12 uc010mzv.3 Q9UKN8 OTTHUMG00000020842 ENST00000372146.4:c.*2186G>A chr9.hg19:g.135566518G>A NA Q5VZJ7 hg19 CCDS6953.1 0.02 11.096703 CCAxGTT COVERED NOVEL GTF3C4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054792.1 1 21.971911 KEEP 0 0 0 73 2607 GG 1 1 0 + 9 60 337 0 0 20.908681 258 60 9837 406 ENST00000372146.4 0.033708 1 GTF3C4 9329 __UNKNOWN__ __UNKNOWN__ 9 135567388 135567388 __UNKNOWN__ 3'UTR SNP T T G rs2772006 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:135567388T>G ENST00000372146.4 + 0 6089 NM_012204.2 NP_036336.2 Q9UKN8 TF3C4_HUMAN general transcription factor IIIC, polypeptide 4, 90kDa NA NA 5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|positive regulation of catalytic activity (GO:0043085)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797) nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127) DNA binding (GO:0003677)|enzyme activator activity (GO:0008047)|histone acetyltransferase activity (GO:0004402) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05) TTAAGAGAATTACAATACTGG 0.308 NA G||| 2564 0.511981 0.6483 0.4971 5008 , , NA 18218 0.5734 NA 0.4036 False NA ,,, NA NA NA 2504 0.3865 NA NA NA Pancreas(142;417 1875 11086 31973 47667) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF142328 CCDS6953.1 9q34.3 2011-07-01 2002-08-29 ENSG00000125484 ENSG00000125484 9329 Chromatin-modifying enzymes / K-acetyltransferases, General transcription factors 4667 protein-coding gene gene with protein product 604892 general transcription factor IIIC, polypeptide 4 (90kD) NA 10523658 Standard NM_012204 NA Approved TFIIIC90, KAT12 uc010mzv.3 Q9UKN8 OTTHUMG00000020842 ENST00000372146.4:c.*3056T>G chr9.hg19:g.135567388T>G NA Q5VZJ7 hg19 CCDS6953.1 0.02 6.636733 AATxACA COVERED NOVEL GTF3C4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054792.1 2 11.131902 KEEP 0 0 0 37 1133 TT 1 1 0 + 7 60 269 0 0 17.497158 167 60 5951 250 ENST00000372146.4 0.04023 1 C9orf9 11092 __UNKNOWN__ __UNKNOWN__ 9 135763816 135763816 __UNKNOWN__ Silent SNP C C T rs2073869 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:135763816C>T ENST00000350499.6 + 4 641 c.487C>T c.(487-489)Ctg>Ttg p.L163L C9orf9_ENST00000356311.5_Silent_p.L163L|C9orf9_ENST00000372136.3_Silent_p.L163L NM_018956.3 NP_061829.3 Q96E40 CI009_HUMAN chromosome 9 open reading frame 9 163 NA cytoplasmic microtubule (GO:0005881) p.?(1) cervix(1)|large_intestine(1)|lung(1)|prostate(1) 4 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|GBM - Glioblastoma multiforme(294;4.84e-07)|Epithelial(140;1.28e-06) GCGCAAGGTGCTGCAGCACGT 0.637 NA C||| 1016 0.202875 0.2035 0.1282 5008 , , NA 16241 0.2659 NA 0.1988 False NA ,,, NA NA NA 2504 0.1943 NA NA NA NA 1 Unknown(1) bone(1) C 892,3514 341.8+/-306.9 94,704,1405 53 42 46 487 -0.6 0.4 9 dbSNP_96 46 1454,7146 276.0+/-292.1 127,1200,2973 no coding-synonymous C9orf9 NM_018956.3 221,1904,4378 TT,TC,CC 16.907,20.2451,18.0378 163/169 135763816 2346,10660 2203 4300 6503 SO:0001819 synonymous_variant CCDS6955.1 9q34.13 2012-03-06 ENSG00000165698 ENSG00000165698 11092 1367 protein-coding gene gene with protein product NA Standard NM_018956 NM_018956 NA Approved uc004cby.1 Q96E40 OTTHUMG00000020847 ENST00000350499.6:c.487C>T chr9.hg19:g.135763816C>T NA Q9UGQ0 hg19 CCDS6955.1 0.02 9.27324 GTGxTGC COVERED NOVEL C9orf9-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054808.1 0 33.406343 KEEP 0 0 0 111 3940 CC 1 1 0 + 11 60 377 0 0 22.59816 282 60 10429 471 ENST00000350499.6 0.037543 1 TSC1 7248 __UNKNOWN__ __UNKNOWN__ 9 135776845 135776845 __UNKNOWN__ Intron SNP G G A rs7020175 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:135776845G>A ENST00000298552.3 - 19 2724 TSC1_ENST00000440111.2_Intron|TSC1_ENST00000545250.1_Intron NM_000368.4|NM_001162426.1|NM_001162427.1 NP_000359.1|NP_001155898.1|NP_001155899.1 Q92574 TSC1_HUMAN tuberous sclerosis 1 NA NA activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808) cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596) chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485) p.?(1) NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 65 OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06) gactatgggggcagcagaacc 0.463 NA D, Mis, N, F, S hamartoma, renal cell Tuberous Sclerosis G||| 412 0.0822684 0.1067 0.0591 5008 , , NA 22471 0.0724 NA 0.0855 False NA ,,, NA NA NA 2504 0.0726 NA NA NA yes Rec Tuberous sclerosis 1 9 9q34 7248 tuberous sclerosis 1 gene E, O 1 Unknown(1) bone(1) NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease AF013168 CCDS6956.1, CCDS55350.1 9q34 2014-09-17 ENSG00000165699 ENSG00000165699 7248 12362 protein-coding gene gene with protein product 605284 TSC NA 9242607, 10806479 Standard NM_000368 NA Approved KIAA0243, LAM, hamartin uc004cca.2 Q92574 OTTHUMG00000020844 ENST00000298552.3:c.2502+130C>T chr9.hg19:g.135776845G>A NA B7Z897|Q5VVN5 hg19 CCDS6956.1 0.02 1.760105 GGGxCAG COVERED NOVEL TSC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054799.1 0 5.116516 KEEP 0 0 0 17 584 GG 0.999366 0.998854 0 - 8 60 279 0 0 20.290883 75 60 2699 101 ENST00000298552.3 0.096386 0.999487 TSC1 7248 __UNKNOWN__ __UNKNOWN__ 9 135777121 135777121 __UNKNOWN__ Intron SNP A A G rs11243931 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:135777121A>G ENST00000298552.3 - 19 2613 TSC1_ENST00000440111.2_Intron|TSC1_ENST00000545250.1_Intron NM_000368.4|NM_001162426.1|NM_001162427.1 NP_000359.1|NP_001155898.1|NP_001155899.1 Q92574 TSC1_HUMAN tuberous sclerosis 1 NA NA activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808) cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596) chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485) p.?(1) NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 65 OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06) AGTTTGAGGAACACCAACAGG 0.537 NA D, Mis, N, F, S hamartoma, renal cell Tuberous Sclerosis OREG0019577 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) G||| 876 0.17492 0.3631 0.1081 5008 , , NA 19334 0.0744 NA 0.1461 False NA ,,, NA NA NA 2504 0.1012 NA NA NA yes Rec Tuberous sclerosis 1 9 9q34 7248 tuberous sclerosis 1 gene E, O 1 Unknown(1) bone(1) GRCh37 CS992717 TSC1 S rs11243931 G ,, 1524,2882 670.5+/-402.3 275,974,954 86 72 77 http://www.ncbi.nlm.nih.gov/sites/varvu?gene ,, -3.2 0 9 dbSNP_120 77 1273,7327 754.1+/-407.5 104,1065,3131 no intron,intron,intron TSC1 NM_000368.4,NM_001162426.1,NM_001162427.1 ,, 379,2039,4085 GG,GA,AA 14.8023,34.5892,21.5055 ,, ,, 135777121 2797,10209 2203 4300 6503 SO:0001627 intron_variant Familial Cancer Database TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease AF013168 CCDS6956.1, CCDS55350.1 9q34 2014-09-17 ENSG00000165699 ENSG00000165699 7248 12362 protein-coding gene gene with protein product 605284 TSC NA 9242607, 10806479 Standard NM_000368 NA Approved KIAA0243, LAM, hamartin uc004cca.2 Q92574 OTTHUMG00000020844 ENST00000298552.3:c.2392-35T>C chr9.hg19:g.135777121A>G 1620 B7Z897|Q5VVN5 hg19 CCDS6956.1 0.02 4.922834 GGAxCAC COVERED NOVEL TSC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054799.1 2 7.555963 KEEP 0 1 37 38 1128 AA 1 0.999999 0 - 8 60 275 0 0 18.793697 112 60 3879 176 ENST00000298552.3 0.066667 0.999999 TSC1 7248 __UNKNOWN__ __UNKNOWN__ 9 135782221 135782221 __UNKNOWN__ Splice_Site SNP T T C rs7862221 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:135782221T>C ENST00000298552.3 - 14 1556 c.1335A>G c.(1333-1335)gaA>gaG p.E445E TSC1_ENST00000440111.2_Splice_Site_p.E445E|TSC1_ENST00000545250.1_Splice_Site_p.E394E NM_000368.4|NM_001162426.1|NM_001162427.1 NP_000359.1|NP_001155898.1|NP_001155899.1 Q92574 TSC1_HUMAN tuberous sclerosis 1 445 NA activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808) cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596) chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485) p.?(1) NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 65 OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06) CAGGTGGCTCTTCTGAAGAGA 0.378 NA D, Mis, N, F, S hamartoma, renal cell Tuberous Sclerosis T||| 694 0.138578 0.233 0.0965 5008 , , NA 17568 0.0744 NA 0.1441 False NA ,,, NA NA NA 2504 0.1012 NA NA NA yes Rec Tuberous sclerosis 1 9 9q34 7248 tuberous sclerosis 1 gene E, O 1 Unknown(1) bone(1) T ,, 965,3441 356.1+/-313.4 119,727,1357 77 70 73 http://www.ncbi.nlm.nih.gov/sites/varvu?gene 1335,1332,1182 3.3 1 9 dbSNP_116 73 1258,7342 244.6+/-273.7 102,1054,3144 yes coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice TSC1 NM_000368.4,NM_001162426.1,NM_001162427.1 ,, 221,1781,4501 CC,CT,TT 14.6279,21.902,17.0921 ,, 445/1165,444/1164,394/1114 135782221 2223,10783 2203 4300 6503 SO:0001630 splice_region_variant Familial Cancer Database TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease AF013168 CCDS6956.1, CCDS55350.1 9q34 2014-09-17 ENSG00000165699 ENSG00000165699 7248 12362 protein-coding gene gene with protein product 605284 TSC NA 9242607, 10806479 Standard NM_000368 NA Approved KIAA0243, LAM, hamartin uc004cca.2 Q92574 OTTHUMG00000020844 ENST00000298552.3:c.1334-1A>G chr9.hg19:g.135782221T>C NA B7Z897|Q5VVN5 hg19 CCDS6956.1 0.02 14.410206 CTCxTCT COVERED NOVEL TSC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054799.1 1 20.163284 KEEP 0 0 0 67 2230 TT 1 1 0 Silent - 20 60 768 0 0 53.862511 300 60 11043 501 ENST00000298552.3 0.0625 1 TSC1 7248 __UNKNOWN__ __UNKNOWN__ 9 135782277 135782277 __UNKNOWN__ Intron SNP G G C rs7872606 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:135782277G>C ENST00000298552.3 - 14 1555 TSC1_ENST00000440111.2_Intron|TSC1_ENST00000545250.1_Intron NM_000368.4|NM_001162426.1|NM_001162427.1 NP_000359.1|NP_001155898.1|NP_001155899.1 Q92574 TSC1_HUMAN tuberous sclerosis 1 NA NA activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808) cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596) chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485) p.?(1) NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 65 OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06) ATCCCTGTAAGTGTAAAACTG 0.418 NA D, Mis, N, F, S hamartoma, renal cell Tuberous Sclerosis G||| 411 0.0820687 0.1059 0.0591 5008 , , NA 16398 0.0724 NA 0.0855 False NA ,,, NA NA NA 2504 0.0726 NA NA NA yes Rec Tuberous sclerosis 1 9 9q34 7248 tuberous sclerosis 1 gene E, O 1 Unknown(1) bone(1) NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease AF013168 CCDS6956.1, CCDS55350.1 9q34 2014-09-17 ENSG00000165699 ENSG00000165699 7248 12362 protein-coding gene gene with protein product 605284 TSC NA 9242607, 10806479 Standard NM_000368 NA Approved KIAA0243, LAM, hamartin uc004cca.2 Q92574 OTTHUMG00000020844 ENST00000298552.3:c.1334-55C>G chr9.hg19:g.135782277G>C NA B7Z897|Q5VVN5 hg19 CCDS6956.1 0.02 7.295152 TAAxTGT COVERED NOVEL TSC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054799.1 1 9.931922 KEEP 0 0 0 33 1151 GG 0.999998 0.999998 0 - 10 60 400 1 0 27.75977 180 60 6653 249 ENST00000298552.3 0.052632 1 TSC1 7248 __UNKNOWN__ __UNKNOWN__ 9 135786904 135786904 __UNKNOWN__ Missense_Mutation SNP A A G rs1073123 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:135786904A>G ENST00000298552.3 - 10 1186 c.965T>C c.(964-966)aTg>aCg p.M322T TSC1_ENST00000440111.2_Missense_Mutation_p.M322T|TSC1_ENST00000403810.1_Missense_Mutation_p.M322T|TSC1_ENST00000545250.1_Missense_Mutation_p.M271T NM_000368.4|NM_001162426.1|NM_001162427.1 NP_000359.1|NP_001155898.1|NP_001155899.1 Q92574 TSC1_HUMAN tuberous sclerosis 1 322 NA M -> T (in dbSNP:rs1073123). {ECO:0000269|PubMed:10533067, ECO:0000269|PubMed:10570911, ECO:0000269|PubMed:10607950, ECO:0000269|PubMed:9328481, ECO:0000269|PubMed:9924605}. activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808) cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596) chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485) p.?(1) NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 65 OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06) CTGCCCTGGCATATTTAACAA 0.493 NA D, Mis, N, F, S hamartoma, renal cell Tuberous Sclerosis G||| 677 0.135184 0.2337 0.0937 5008 , , NA 15968 0.0744 NA 0.1312 False NA ,,, NA NA NA 2504 0.0982 NA NA NA yes Rec Tuberous sclerosis 1 9 9q34 7248 tuberous sclerosis 1 gene E, O 1 Unknown(1) bone(1) G THR/MET,THR/MET,THR/MET 967,3439 734.0+/-410.5 117,733,1353 166 145 152 http://www.ncbi.nlm.nih.gov/sites/varvu?gene 965,965,812 3 0 9 dbSNP_86 152 1185,7415 764.1+/-407.6 93,999,3208 yes missense,missense,missense TSC1 NM_000368.4,NM_001162426.1,NM_001162427.1 81,81,81 210,1732,4561 GG,GA,AA 13.7791,21.9473,16.5462 benign,benign,benign 322/1165,322/1164,271/1114 135786904 2152,10854 2203 4300 6503 SO:0001583 missense Familial Cancer Database TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease AF013168 CCDS6956.1, CCDS55350.1 9q34 2014-09-17 ENSG00000165699 ENSG00000165699 7248 12362 protein-coding gene gene with protein product 605284 TSC NA 9242607, 10806479 Standard NM_000368 NA Approved KIAA0243, LAM, hamartin uc004cca.2 Q92574 OTTHUMG00000020844 ENST00000298552.3:c.965T>C chr9.hg19:g.135786904A>G ENSP00000298552:p.Met322Thr NA B7Z897|Q5VVN5 hg19 CCDS6956.1 0.02 5.935965 GGCxTAT COVERED 299 0.13690476190476192 116 0.23577235772357724 39 0.10773480662983426 37 0.06468531468531469 107 0.14116094986807387 G 0.299 -0.975294 0.02215 0.219473 0.137791 ENSG00000165699 ENST00000298552;ENST00000440111;ENST00000545250;ENST00000537172;ENST00000424271;ENST00000403810 D;D;D;D;D 0.85861 -2.04;-2.04;-2.04;-1.91;-2.04 5.79 2.95 0.34219 . 0.355274 0.36134 N 0.002766 T 0.00039 0.0001 N 0.01267 -0.92 0.80722 P 0.0 B;B;B;B;B;B 0.12630 0.006;0.0;0.0;0.0;0.0;0.0 B;B;B;B;B;B 0.06405 0.002;0.0;0.001;0.002;0.001;0.0 T 0.09271 -1.0682 9 0.02654 T 1 -1.4519 7.1757 0.25742 0.3837:0.0:0.6163:0.0 rs1073123;rs4621943;rs56594598;rs59426674;rs1073123 201;271;322;322;322;322 B7Z604;B7Z897;Q86WV8;Q59IT9;Q32NF0;Q92574 .;.;.;.;.;TSC1_HUMAN T 322;322;271;201;201;322 ENSP00000298552:M322T;ENSP00000394524:M322T;ENSP00000444017:M271T;ENSP00000438099:M201T;ENSP00000386093:M322T ENSP00000298552:M322T M - 2 0 TSC1 134776725 0.406000 0.25344 0.009000 0.14445 0.955000 0.61496 1.378000 0.34328 0.818000 0.34468 -0.726000 0.03593 ATG NOVEL TSC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054799.1 2 4.812755 KEEP 0 0 0 16 467 AA 0.997832 0.997832 0 - 11 60 393 0 0 26.130687 186 60 6675 228 ENST00000298552.3 0.055838 1 GFI1B 8328 __UNKNOWN__ __UNKNOWN__ 9 135863585 135863585 __UNKNOWN__ Splice_Site SNP G G T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:135863585G>T ENST00000339463.3 + 8 1059 c.240G>T c.(238-240)gaG>gaT p.E80D GFI1B_ENST00000372122.1_Splice_Site_p.E80D|GFI1B_ENST00000534944.1_Splice_Site_p.E80D|GFI1B_ENST00000372123.1_Splice_Site_p.E80D|GFI1B_ENST00000450530.1_Splice_Site_p.E80D|GFI1B_ENST00000372124.1_Splice_Site_p.E80D Q5VTD9 GFI1B_HUMAN growth factor independent 1B transcription repressor 80 NA cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K9 methylation (GO:0051574)|regulation of erythrocyte differentiation (GO:0045646)|transcription from RNA polymerase II promoter (GO:0006366) nuclear matrix (GO:0016363)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II transcription factor binding (GO:0001085) central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1) 21 OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05) TCTCCACAGAGGGCCCCATTG 0.577 NA NA NA NA NA NA NA NA NA NA NA 0 72 69 70 NA NA 9 NA 135863585 2203 4300 6503 SO:0001630 splice_region_variant AF081946 CCDS6957.1, CCDS48049.1 9q34.13 2014-09-17 2007-10-04 ENSG00000165702 ENSG00000165702 8328 Zinc fingers, C2H2-type 4238 protein-coding gene gene with protein product 604383 growth factor independent 1B (potential regulator of CDKN1A, translocated in CML) NA 9878267 Standard NM_004188 NM_001135031 NA Approved uc004ccg.3 Q5VTD9 OTTHUMG00000020848 ENST00000339463.3:c.239-1G>T chr9.hg19:g.135863585G>T NA O95270|Q5VTD8|Q6FHZ2|Q6T888 hg19 CCDS6957.1 0.02 13.783315 AGAxGGC COVERED . . . . . . . . . . G 8.367 0.834363 0.16820 . . ENSG00000165702 ENST00000372124;ENST00000339463;ENST00000450530;ENST00000534944;ENST00000372123;ENST00000372122 T;T;T;T;T;T 0.08984 3.18;3.03;3.03;3.18;3.18;3.03 4.18 1.35 0.21983 . 0.447877 0.22952 N 0.053660 T 0.07863 0.0197 L 0.41027 1.25 0.22317 N 0.999209 B;B 0.33266 0.404;0.361 B;B 0.36335 0.222;0.054 T 0.22556 -1.0213 10 0.66056 D 0.02 . 7.4115 0.27019 0.297:0.0:0.703:0.0 . 80;80 Q5VTD9-2;Q5VTD9 .;GFI1B_HUMAN D 80 ENSP00000361197:E80D;ENSP00000344782:E80D;ENSP00000409546:E80D;ENSP00000446134:E80D;ENSP00000361196:E80D;ENSP00000361195:E80D ENSP00000344782:E80D E + 3 2 GFI1B 134853406 0.985000 0.35326 0.343000 0.25615 0.104000 0.19210 0.745000 0.26259 0.087000 0.17167 -0.253000 0.11424 GAG NOVEL GFI1B-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000393840.1 2 12.338016 KEEP 0 0 0 41 1395 GG 1 1 0 Missense_Mutation + 11 60 381 0 0 21.621594 379 60 14268 512 ENST00000339463.3 0.028205 1 GFI1B 8328 __UNKNOWN__ __UNKNOWN__ 9 135865359 135865359 __UNKNOWN__ Intron SNP A A G rs681470 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:135865359A>G ENST00000339463.3 + 10 1633 GFI1B_ENST00000372122.1_Intron|GFI1B_ENST00000534944.1_Intron|GFI1B_ENST00000372123.1_Intron|GFI1B_ENST00000450530.1_Intron|GFI1B_ENST00000372124.1_Intron Q5VTD9 GFI1B_HUMAN growth factor independent 1B transcription repressor NA NA cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K9 methylation (GO:0051574)|regulation of erythrocyte differentiation (GO:0045646)|transcription from RNA polymerase II promoter (GO:0006366) nuclear matrix (GO:0016363)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II transcription factor binding (GO:0001085) central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1) 21 OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05) TGAGAGATGCATCAGAGGCCC 0.587 NA A||| 1270 0.253594 0.4251 0.1715 5008 , , NA 16963 0.2758 NA 0.1203 False NA ,,, NA NA NA 2504 0.1943 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF081946 CCDS6957.1, CCDS48049.1 9q34.13 2014-09-17 2007-10-04 ENSG00000165702 ENSG00000165702 8328 Zinc fingers, C2H2-type 4238 protein-coding gene gene with protein product 604383 growth factor independent 1B (potential regulator of CDKN1A, translocated in CML) NA 9878267 Standard NM_004188 NM_001135031 NA Approved uc004ccg.3 Q5VTD9 OTTHUMG00000020848 ENST00000339463.3:c.814+65A>G chr9.hg19:g.135865359A>G NA O95270|Q5VTD8|Q6FHZ2|Q6T888 hg19 CCDS6957.1 0.02 12.974656 TGCxTCA COVERED NOVEL GFI1B-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000393840.1 0 17.452424 KEEP 0 0 0 58 1799 AA 1 1 0 + 14 60 522 0 0 33.416102 333 60 12105 522 ENST00000339463.3 0.040346 1 RALGDS 5900 __UNKNOWN__ __UNKNOWN__ 9 135976679 135976679 __UNKNOWN__ Intron SNP C C A rs2519090 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:135976679C>A ENST00000372050.3 - 16 2476 RALGDS_ENST00000542690.1_Intron|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000372047.3_Intron|RALGDS_ENST00000393160.3_Intron|RALGDS_ENST00000372062.3_Intron|RALGDS_ENST00000393157.3_Intron NM_006266.2 NP_006257.1 Q12967 GNDS_HUMAN ral guanine nucleotide dissociation stimulator NA NA neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056) cytosol (GO:0005829) guanyl-nucleotide exchange factor activity (GO:0005085)|small GTPase regulator activity (GO:0005083) endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05) cctacagcaccgccccttcag 0.617 NA T CIITA PMBL, Hodgkin Lymphona, c||| 1139 0.227436 0.093 0.2752 5008 , , NA 19051 0.3651 NA 0.2197 False NA ,,, NA NA NA 2504 0.2413 NA NA NA Melanoma(189;762 2088 15384 21931 52515) Dom yes 9 9q34.3 5900 ral guanine nucleotide dissociation stimulator L 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB037729 CCDS6959.1, CCDS43897.1, CCDS65172.1, CCDS65173.1, CCDS65174.1 9q34.3 2009-04-08 ENSG00000160271 ENSG00000160271 5900 9842 protein-coding gene gene with protein product 601619 NA 7972015 Standard NM_006266 NM_006266 NA Approved RGF, RalGEF, RGDS uc004ccr.3 Q12967 OTTHUMG00000020858 ENST00000372050.3:c.2454+227G>T chr9.hg19:g.135976679C>A NA B7Z753|E7ER93|E7ERZ0|Q5T7V4|Q6KH11|Q6PCE1|Q6ZSD5|Q9HAX7|Q9HAY1|Q9HCT1|Q9P2N8 hg19 CCDS6959.1 0.02 6.528958 CACxGCC COVERED NOVEL RALGDS-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000054837.1 1 7.276024 KEEP 0 1 10 28 921 CC 0.999997 0.999997 0 - 6 60 222 0 0 13.719404 169 60 5994 226 ENST00000372050.3 0.034286 1 GBGT1 26301 __UNKNOWN__ __UNKNOWN__ 9 136029301 136029301 __UNKNOWN__ Missense_Mutation SNP C C T rs75765336 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:136029301C>T ENST00000372040.3 - 7 1018 c.707G>A c.(706-708)cGc>cAc p.R236H RALGDS_ENST00000542690.1_Intron|GBGT1_ENST00000540636.1_Missense_Mutation_p.R219H|GBGT1_ENST00000472281.1_5'UTR|GBGT1_ENST00000372043.3_Missense_Mutation_p.A230T NM_001282629.1 NP_001269558.1 Q8N5D6 GBGT1_HUMAN globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 236 NA glycolipid biosynthetic process (GO:0009247)|protein glycosylation (GO:0006486) Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) globoside alpha-N-acetylgalactosaminyltransferase activity (GO:0047277)|metal ion binding (GO:0046872) breast(2)|endometrium(1)|kidney(4)|lung(2)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05) GAACTGCTGGCGGGGAACGGC 0.602 NA C||| 48 0.00958466 0.0 0.0 5008 , , NA 18046 0.0446 NA 0.001 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 C HIS/ARG 6,4400 11.4+/-27.6 0,6,2197 79 80 80 707 1.4 1 9 dbSNP_131 80 10,8590 7.7+/-29.5 0,10,4290 yes missense GBGT1 NM_021996.4 29 0,16,6487 TT,TC,CC 0.1163,0.1362,0.123 236/348 136029301 16,12990 2203 4300 6503 SO:0001583 missense AY358175 CCDS6960.1, CCDS65175.1, CCDS65176.1 9q34.13-q34.3 2014-07-18 ENSG00000148288 ENSG00000148288 26301 Glycosyltransferase family 6 domain containing 20460 protein-coding gene gene with protein product Forssman glycolipid synthetase (FS), Forssman synthetase 606074 NA 10506200, 8855242 Standard NM_021996 NM_021996 NA Approved UDP-GalNAc, A3GALNT, MGC44848, FS Q8N5D6 OTTHUMG00000020853 ENST00000372040.3:c.707G>A chr9.hg19:g.136029301C>T ENSP00000361110:p.Arg236His NA A8K633|B2RA95|B7Z8S5|Q45F07|Q5T7U9|Q5T7V1|Q8N2K4|Q9UKI5 hg19 CCDS6960.1 0.02 10.411004 TGGxGGG COVERED 24|24 0.01098901098901099|0.01098901098901099 0|0 0.0|0.0 0|0 0.0|0.0 24|24 0.04195804195804196|0.04195804195804196 0|0 0.0|0.0 C|C 18.38|18.38 3.611174|3.611174 0.66558|0.66558 0.001362|0.001362 0.001163|0.001163 ENSG00000148288|ENSG00000148288 ENST00000372043|ENST00000372040;ENST00000540636 T|T;T 0.23348|0.01446 1.91|4.88;4.88 5.47|5.47 1.39|1.39 0.22231|0.22231 .|. .|0.120889 .|0.56097 .|N .|0.000036 T|T 0.00875|0.00875 0.0029|0.0029 M|M 0.90870|0.90870 3.155|3.155 0.23266|0.23266 N|N 0.998017|0.998017 .|P;P .|0.37612 .|0.602;0.602 .|B;B .|0.35470 .|0.203;0.203 T|T 0.21314|0.21314 -1.0249|-1.0249 7|10 0.87932|0.72032 D|D 0|0.01 -3.3706|-3.3706 7.5072|7.5072 0.27551|0.27551 0.0:0.6764:0.1187:0.2049|0.0:0.6764:0.1187:0.2049 .|. .|219;236 .|B7Z8S5;Q8N5D6 .|.;GBGT1_HUMAN T|H 230|236;219 ENSP00000361113:A230T|ENSP00000361110:R236H;ENSP00000437663:R219H ENSP00000361113:A230T|ENSP00000361110:R236H A|R -|- 1|2 0|0 GBGT1|GBGT1 135019122|135019122 0.199000|0.199000 0.23386|0.23386 0.997000|0.997000 0.53966|0.53966 0.783000|0.783000 0.44284|0.44284 0.535000|0.535000 0.23114|0.23114 0.275000|0.275000 0.22094|0.22094 -0.224000|-0.224000 0.12420|0.12420 GCC|CGC NOVEL GBGT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054815.1 1 25.280622 KEEP 0 0 0 84 2906 CC 1 1 0 - 17 60 594 0 0 39.196128 282 60 9915 448 ENST00000372040.3 0.056856 1 OBP2B 29989 __UNKNOWN__ __UNKNOWN__ 9 136081391 136081391 __UNKNOWN__ Intron SNP G G A rs6597608 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:136081391G>A ENST00000372034.3 - 6 532 OBP2B_ENST00000372032.2_Intron|OBP2B_ENST00000461961.1_Intron NM_014581.2 NP_055396.1 Q9NPH6 OBP2B_HUMAN odorant binding protein 2B NA NA chemosensory behavior (GO:0007635)|sensory perception of smell (GO:0007608)|transport (GO:0006810) extracellular region (GO:0005576) odorant binding (GO:0005549) central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1) 7 OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05) AGACCCCATCGCAGCCCAGAG 0.657 NA g||| 3059 0.610823 0.5219 0.7262 5008 , , NA 16001 0.5645 NA 0.7555 False NA ,,, NA NA NA 2504 0.5481 NA NA NA NA 0 136 117 123 NA NA 9 NA 136081391 692 1591 2283 SO:0001627 intron_variant AJ251026 CCDS6961.1 9q34 2014-01-22 ENSG00000171102 ENSG00000171102 29989 Lipocalins 23381 protein-coding gene gene with protein product 604606 NA Standard NM_014581 NM_001288987 NA Approved hOBPIIb, LCN14 uc004ccz.3 Q9NPH6 OTTHUMG00000020860 ENST00000372034.3:c.491-64C>T chr9.hg19:g.136081391G>A NA Q5VSP6|Q9NY51|Q9NY52 hg19 CCDS6961.1 0.02 12.089762 ATCxCAG COVERED NOVEL OBP2B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054851.1 1 10.970369 KEEP 9 1 30 47 1697 GG 1 1 0 - 20 60 679 0 0 45.524054 281 60 10270 435 ENST00000372034.3 0.066445 1 OBP2B 29989 __UNKNOWN__ __UNKNOWN__ 9 136081598 136081598 __UNKNOWN__ Intron SNP C C T rs28507496 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:136081598C>T ENST00000372034.3 - 5 532 OBP2B_ENST00000372032.2_Intron|OBP2B_ENST00000461961.1_Intron NM_014581.2 NP_055396.1 Q9NPH6 OBP2B_HUMAN odorant binding protein 2B NA NA chemosensory behavior (GO:0007635)|sensory perception of smell (GO:0007608)|transport (GO:0006810) extracellular region (GO:0005576) odorant binding (GO:0005549) central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1) 7 OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05) TCGGGGCACACGGGGAATGCG 0.657 NA C||| 1964 0.392173 0.2322 0.4236 5008 , , NA 13865 0.5744 NA 0.4245 False NA ,,, NA NA NA 2504 0.365 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ251026 CCDS6961.1 9q34 2014-01-22 ENSG00000171102 ENSG00000171102 29989 Lipocalins 23381 protein-coding gene gene with protein product 604606 NA Standard NM_014581 NM_001288987 NA Approved hOBPIIb, LCN14 uc004ccz.3 Q9NPH6 OTTHUMG00000020860 ENST00000372034.3:c.490+103G>A chr9.hg19:g.136081598C>T NA Q5VSP6|Q9NY51|Q9NY52 hg19 CCDS6961.1 0.02 8.589922 ACAxGGG COVERED NOVEL OBP2B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054851.1 3 8.728429 KEEP 0 0 0 29 1025 CC 0.999997 0.999997 0 - 10 60 367 0 0 23.519059 225 60 8055 296 ENST00000372034.3 0.042553 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 136109153 136109153 __UNKNOWN__ IGR SNP T T C rs10793961 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:136109153T>C NA NA OBP2B (24523 upstream) : ABO (16634 downstream) NA NA NA GTCCCGAGGGTGGGGCTGTGG 0.632 NA t||| 2814 0.561901 0.4153 0.6599 5008 , , NA 14480 0.5675 NA 0.7942 False NA ,,, NA NA NA 2504 0.4458 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.136109153T>C NA hg19 0.02 2.469798 GGGxGGG COVERED NOVEL 0 0 4.0453 KEEP 0 1 36 26 757 TT 0.999988 0.987931 0 7 60 268 0 0 20.809017 52 60 1766 111 0.118644 0.987943 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 136109279 136109279 __UNKNOWN__ IGR SNP G G A rs11244041 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:136109279G>A NA NA OBP2B (24649 upstream) : ABO (16508 downstream) NA NA NA ACAGAGACACGGTGACGGTCA 0.642 NA g||| 2769 0.552915 0.385 0.6542 5008 , , NA 15185 0.5655 NA 0.7952 False NA ,,, NA NA NA 2504 0.4458 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.136109279G>A NA hg19 0.02 -0.429882 CACxGTG COVERED NOVEL 0 0 2.708398 KEEP 0 0 0 9 294 GG 0.99254 0.947371 0 4 60 140 0 0 9.894816 45 60 1662 59 0.081633 0.954491 ABO 28 __UNKNOWN__ __UNKNOWN__ 9 136131347 136131347 __UNKNOWN__ RNA SNP G G A rs8176745 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:136131347G>A ENST00000453660.2 - 0 781 P16442 BGAT_HUMAN ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) NA NA protein glycosylation (GO:0006486) extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) fucosylgalactoside 3-alpha-galactosyltransferase activity (GO:0004381)|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity (GO:0004380)|metal ion binding (GO:0046872) central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2) 11 OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05) CCTCGTCCTTGGGGATGTAGG 0.672 NA G||| 1350 0.269569 0.2436 0.4308 5008 , , NA 14653 0.2897 NA 0.2207 False NA ,,, NA NA NA 2504 0.2198 NA NA NA NA 0 G 877,3027 108,661,1183 17 20 19 770 -1.6 0 9 dbSNP_117 19 1956,6274 239,1478,2398 yes coding-synonymous ABO NM_020469.2 347,2139,3581 AA,AG,GG 23.7667,22.4641,23.3476 257/355 136131347 2833,9301 1952 4115 6067 AF134415 9q34.2 2014-07-19 ENSG00000175164 ENSG00000175164 28 2.4.1.40, 2.4.1.37 Blood group antigens, Glycosyltransferase family 6 domain containing 79 protein-coding gene gene with protein product 110300 NA 184030 Standard NM_020469 NM_020469 NA Approved A3GALNT, A3GALT1 uc004cda.1 P16442 OTTHUMG00000020872 ENST00000453660.2: chr9.hg19:g.136131347G>A NA B0JDB9|O14758|Q14490|Q53I57|Q6ISD4|Q6KFZ2|Q70V27|Q99484|Q99485|Q9NY01|Q9UQ68|Q9UQ69 hg19 0.02 12.634177 CTTxGGG COVERED NOVEL ABO-001 KNOWN basic processed_transcript NA processed_transcript OTTHUMT00000054907.4 0 35.648257 KEEP 0 1 24 127 4430 GG 1 1 0 - 12 60 392 0 0 22.976088 318 60 11795 573 ENST00000453660.2 0.036364 1 ABO 28 __UNKNOWN__ __UNKNOWN__ 9 136131437 136131437 __UNKNOWN__ RNA SNP C C T rs386739124|rs8176742 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:136131437C>T ENST00000453660.2 - 0 691 P16442 BGAT_HUMAN ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) NA NA protein glycosylation (GO:0006486) extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) fucosylgalactoside 3-alpha-galactosyltransferase activity (GO:0004381)|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity (GO:0004380)|metal ion binding (GO:0046872) central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2) 11 OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05) TGCCGAACAGCGGAGTCAGGA 0.662 NA C||| 1198 0.239217 0.1362 0.4207 5008 , , NA 16226 0.2887 NA 0.2197 False NA ,,, NA NA NA 2504 0.2188 NA NA NA NA 0 C 497,3767 33,431,1668 27 34 31 680 -8.6 0 9 dbSNP_117 31 1881,6551 217,1447,2552 yes coding-synonymous ABO NM_020469.2 250,1878,4220 TT,TC,CC 22.3079,11.6557,18.7303 227/355 136131437 2378,10318 2132 4216 6348 AF134415 9q34.2 2014-07-19 ENSG00000175164 ENSG00000175164 28 2.4.1.40, 2.4.1.37 Blood group antigens, Glycosyltransferase family 6 domain containing 79 protein-coding gene gene with protein product 110300 NA 184030 Standard NM_020469 NM_020469 NA Approved A3GALNT, A3GALT1 uc004cda.1 P16442 OTTHUMG00000020872 ENST00000453660.2: chr9.hg19:g.136131437C>T NA B0JDB9|O14758|Q14490|Q53I57|Q6ISD4|Q6KFZ2|Q70V27|Q99484|Q99485|Q9NY01|Q9UQ68|Q9UQ69 hg19 0.02 12.44954 CAGxGGA COVERED NOVEL ABO-001 KNOWN basic processed_transcript NA processed_transcript OTTHUMT00000054907.4 4 38.195297 KEEP 0 0 0 127 4403 CC 1 1 0 - 12 60 430 0 0 26.565943 305 60 10684 557 ENST00000453660.2 0.037855 1 ABO 28 __UNKNOWN__ __UNKNOWN__ 9 136131472 136131472 __UNKNOWN__ RNA SNP A A T rs386739124|rs8176740 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:136131472A>T ENST00000453660.2 - 0 656 P16442 BGAT_HUMAN ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) NA NA protein glycosylation (GO:0006486) extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) fucosylgalactoside 3-alpha-galactosyltransferase activity (GO:0004381)|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity (GO:0004380)|metal ion binding (GO:0046872) central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2) 11 OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05) TGGTCGCGGAACTCCATGTCC 0.647 NA A||| 1347 0.26897 0.2421 0.4308 5008 , , NA 16318 0.2887 NA 0.2207 False NA ,,, NA NA NA 2504 0.2198 NA NA NA NA 0 A ILE/PHE 958,3382 118,722,1330 30 36 34 645 3.5 0.4 9 dbSNP_117 34 1946,6564 227,1492,2536 yes missense ABO NM_020469.2 21 345,2214,3866 TT,TA,AA 22.8672,22.0737,22.5992 probably-damaging 216/355 136131472 2904,9946 2170 4255 6425 AF134415 9q34.2 2014-07-19 ENSG00000175164 ENSG00000175164 28 2.4.1.40, 2.4.1.37 Blood group antigens, Glycosyltransferase family 6 domain containing 79 protein-coding gene gene with protein product 110300 NA 184030 Standard NM_020469 NM_020469 NA Approved A3GALNT, A3GALT1 uc004cda.1 P16442 OTTHUMG00000020872 ENST00000453660.2: chr9.hg19:g.136131472A>T NA B0JDB9|O14758|Q14490|Q53I57|Q6ISD4|Q6KFZ2|Q70V27|Q99484|Q99485|Q9NY01|Q9UQ68|Q9UQ69 hg19 0.02 12.745564 GGAxCTC COVERED NOVEL ABO-001 KNOWN basic processed_transcript NA processed_transcript OTTHUMT00000054907.4 4 42.120029 KEEP 0 0 0 140 4309 AA 1 1 0 - 15 60 532 1 0 33.963829 325 60 11372 598 ENST00000453660.2 0.044118 1 ABO 28 __UNKNOWN__ __UNKNOWN__ 9 136131651 136131651 __UNKNOWN__ RNA SNP G G A rs1053878 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:136131651G>A ENST00000453660.2 - 0 477 P16442 BGAT_HUMAN ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) NA NA protein glycosylation (GO:0006486) extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) fucosylgalactoside 3-alpha-galactosyltransferase activity (GO:0004381)|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity (GO:0004380)|metal ion binding (GO:0046872) central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2) 11 OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05) CACCGCGGCCGGCTGGTCGGT 0.652 NA G||| 665 0.132788 0.2557 0.0677 5008 , , NA 14694 0.1508 NA 0.0994 False NA ,,, NA NA NA 2504 0.0286 NA NA NA NA 0 G LEU/PRO 818,3072 98,622,1225 26 28 28 http://www.ncbi.nlm.nih.gov/sites/varvu?gene 466 3.8 0.1 9 dbSNP_86 28 571,7681 18,535,3573 yes missense ABO NM_020469.2 98 116,1157,4798 AA,AG,GG 6.9195,21.0283,11.4396 possibly-damaging 156/355 136131651 1389,10753 1945 4126 6071 AF134415 9q34.2 2014-07-19 ENSG00000175164 ENSG00000175164 28 2.4.1.40, 2.4.1.37 Blood group antigens, Glycosyltransferase family 6 domain containing 79 protein-coding gene gene with protein product 110300 NA 184030 Standard NM_020469 NM_020469 NA Approved A3GALNT, A3GALT1 uc004cda.1 P16442 OTTHUMG00000020872 ENST00000453660.2: chr9.hg19:g.136131651G>A NA B0JDB9|O14758|Q14490|Q53I57|Q6ISD4|Q6KFZ2|Q70V27|Q99484|Q99485|Q9NY01|Q9UQ68|Q9UQ69 hg19 0.02 10.9108 GCCxGCT COVERED NOVEL ABO-001 KNOWN basic processed_transcript NA processed_transcript OTTHUMT00000054907.4 3 55.375439 KEEP 0 0 0 184 6322 GG 1 1 0 - 10 60 359 0 0 22.009558 267 60 9203 577 ENST00000453660.2 0.036101 1 ABO 28 __UNKNOWN__ __UNKNOWN__ 9 136132707 136132707 __UNKNOWN__ RNA SNP A A T rs2073825 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:136132707A>T ENST00000453660.2 - 0 385 P16442 BGAT_HUMAN ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) NA NA protein glycosylation (GO:0006486) extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) fucosylgalactoside 3-alpha-galactosyltransferase activity (GO:0004381)|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity (GO:0004380)|metal ion binding (GO:0046872) central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2) 11 OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05) CCGCCACCCCACTCTGTCTTG 0.577 NA A||| 1352 0.269968 0.2413 0.4308 5008 , , NA 19872 0.2887 NA 0.2217 False NA ,,, NA NA NA 2504 0.2249 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AF134415 9q34.2 2014-07-19 ENSG00000175164 ENSG00000175164 28 2.4.1.40, 2.4.1.37 Blood group antigens, Glycosyltransferase family 6 domain containing 79 protein-coding gene gene with protein product 110300 NA 184030 Standard NM_020469 NM_020469 NA Approved A3GALNT, A3GALT1 uc004cda.1 P16442 OTTHUMG00000020872 ENST00000453660.2: chr9.hg19:g.136132707A>T NA B0JDB9|O14758|Q14490|Q53I57|Q6ISD4|Q6KFZ2|Q70V27|Q99484|Q99485|Q9NY01|Q9UQ68|Q9UQ69 hg19 0.02 4.526554 CCCxCTC COVERED NOVEL ABO-001 KNOWN basic processed_transcript NA processed_transcript OTTHUMT00000054907.4 1 10.838939 KEEP 0 1 22 44 1356 AA 1 1 0 - 6 60 232 0 0 15.487169 125 60 4449 220 ENST00000453660.2 0.045802 1 ABO 28 __UNKNOWN__ __UNKNOWN__ 9 136132873 136132873 __UNKNOWN__ RNA SNP T T C rs8176720 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:136132873T>C ENST00000453660.2 - 0 307 P16442 BGAT_HUMAN ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) NA NA protein glycosylation (GO:0006486) extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) fucosylgalactoside 3-alpha-galactosyltransferase activity (GO:0004381)|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity (GO:0004380)|metal ion binding (GO:0046872) p.T98T(1) central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2) 11 OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05) CGATGTTGAATGTGCCCTCCC 0.557 NA C||| 2270 0.453275 0.4894 0.4942 5008 , , NA 17545 0.4831 NA 0.337 False NA ,,, NA NA NA 2504 0.4642 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) C 1889,2371 446,997,687 119 135 130 296 -8.4 0.4 9 dbSNP_117 130 2850,5648 496,1858,1895 yes coding-synonymous ABO NM_020469.2 942,2855,2582 CC,CT,TT 33.5373,44.3427,37.1453 99/355 136132873 4739,8019 2130 4249 6379 AF134415 9q34.2 2014-07-19 ENSG00000175164 ENSG00000175164 28 2.4.1.40, 2.4.1.37 Blood group antigens, Glycosyltransferase family 6 domain containing 79 protein-coding gene gene with protein product 110300 NA 184030 Standard NM_020469 NM_020469 NA Approved A3GALNT, A3GALT1 uc004cda.1 P16442 OTTHUMG00000020872 ENST00000453660.2: chr9.hg19:g.136132873T>C NA B0JDB9|O14758|Q14490|Q53I57|Q6ISD4|Q6KFZ2|Q70V27|Q99484|Q99485|Q9NY01|Q9UQ68|Q9UQ69 hg19 0.02 4.214741 GAAxGTG COVERED NOVEL ABO-001 KNOWN basic processed_transcript NA processed_transcript OTTHUMT00000054907.4 1 11.735512 KEEP 0 0 0 39 1229 TT 1 0.999999 0 - 7 60 232 0 0 14.938791 114 60 4044 198 ENST00000453660.2 0.057851 0.999999 C9orf96 0 __UNKNOWN__ __UNKNOWN__ 9 136268038 136268038 __UNKNOWN__ Silent SNP C C T rs3124748 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:136268038C>T ENST00000371957.3 + 14 1478 c.1371C>T c.(1369-1371)aaC>aaT p.N457N C9orf96_ENST00000371955.1_Intron NM_153710.3 NP_714921.4 Q8NE28 STKL1_HUMAN 457 NA ATP binding (GO:0005524)|protein kinase activity (GO:0004672) autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2) 25 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) AGCTGCAGAACGCTGGGCTGC 0.647 NA C||| 2221 0.44349 0.3926 0.4928 5008 , , NA 18663 0.4643 NA 0.4334 False NA ,,, NA NA NA 2504 0.4663 NA NA NA NA 0 C 1773,2625 368,1037,794 34 31 32 1371 -1.3 0.1 9 dbSNP_103 32 3808,4786 858,2092,1347 no coding-synonymous C9orf96 NM_153710.3 1226,3129,2141 TT,TC,CC 44.31,40.3138,42.9572 457/681 136268038 5581,7411 2199 4297 6496 SO:0001819 synonymous_variant NA NA NA NA ENST00000371957.3:c.1371C>T chr9.hg19:g.136268038C>T NA Q5T8U8|Q6ZMP6|Q6ZMQ5 hg19 CCDS35169.1 0.02 3.950172 GAAxGCT COVERED NOVEL C9orf96-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054855.1 0 2.641506 KEEP 0 1 29 19 637 CC 0.999863 0.99986 0 + 8 60 288 0 0 19.947719 109 60 3748 164 ENST00000371957.3 0.068376 0.999998 SARDH 1757 __UNKNOWN__ __UNKNOWN__ 9 136578271 136578271 __UNKNOWN__ Intron SNP G G C rs582326 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:136578271G>C ENST00000371872.4 - 9 1408 SARDH_ENST00000439388.1_Intron|SARDH_ENST00000422262.2_Intron NM_007101.3 NP_009032.2 Q9UL12 SARDH_HUMAN sarcosine dehydrogenase NA NA glycine catabolic process (GO:0006546) mitochondrion (GO:0005739) aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480) central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 44 OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05) GAGAGGCCTGGAGTCCCTTTT 0.612 NA G||| 1330 0.265575 0.1172 0.304 5008 , , NA 17293 0.3571 NA 0.341 False NA ,,, NA NA NA 2504 0.2669 NA NA NA NA 0 G , 735,3667 288.9+/-280.1 66,603,1532 30 32 32 , -1.8 0 9 dbSNP_83 32 3108,5492 452.0+/-362.8 579,1950,1771 no intron,intron SARDH NM_001134707.1,NM_007101.3 , 645,2553,3303 CC,CG,GG 36.1395,16.697,29.557 , , 136578271 3843,9159 2201 4300 6501 SO:0001627 intron_variant CCDS6978.1 9q33-q34 2008-02-05 ENSG00000123453 ENSG00000123453 1757 1.5.99.2 10536 protein-coding gene gene with protein product 604455 DMGDHL1 NA 10444331 Standard NM_007101 NA Approved SDH uc004cep.4 Q9UL12 OTTHUMG00000020879 ENST00000371872.4:c.1151-25C>G chr9.hg19:g.136578271G>C NA B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3 hg19 CCDS6978.1 0.02 7.262149 CTGxAGT COVERED NOVEL SARDH-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054931.1 2 9.265891 KEEP 0 1 35 43 1500 GG 1 1 0 - 13 60 488 0 0 35.033816 158 60 5918 271 ENST00000371872.4 0.076023 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 136944314 136944314 __UNKNOWN__ IGR SNP C C T rs192132534 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:136944314C>T NA NA BRD3 (10657 upstream) : LL09NC01-251B2.3 (53049 downstream) NA NA NA TAGCAATGATCGTGGAAGAAT 0.433 NA C||| 10 0.00199681 0.0 0.0 5008 , , NA 21148 0.0099 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.136944314C>T NA hg19 0.02 1.843764 GATxGTG COVERED NOVEL 0 2 2.407434 KEEP 0 0 0 8 262 CC 0.99257 0.992195 0 4 60 147 0 0 9.609333 81 60 2837 112 0.047059 0.999622 COL5A1 1289 __UNKNOWN__ __UNKNOWN__ 9 137544618 137544618 __UNKNOWN__ Intron SNP C C T rs73556965 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:137544618C>T ENST00000371817.3 + 1 523 COL5A1-AS1_ENST00000371813.4_RNA NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 NA NA axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313) basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062) extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) CCGGGTCCAGCGTTTCTCCTC 0.552 NA c||| 186 0.0371406 0.0983 0.0086 5008 , , NA 14920 0.0446 NA 0.0 False NA ,,, NA NA NA 2504 0.0051 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D90279 CCDS6982.1, CCDS75932.1 9q34.2-q34.3 2014-09-17 ENSG00000130635 ENSG00000130635 1289 Collagens 2209 protein-coding gene gene with protein product alpha 1 type V collagen 120215 NA 1572660 Standard NM_000093 NM_001278074 NA Approved uc031tfl.1 P20908 OTTHUMG00000020891 ENST00000371817.3:c.109+10476C>T chr9.hg19:g.137544618C>T NA Q15094|Q5SUX4 hg19 CCDS6982.1 0.02 26.54624 CAGxGTT COVERED NOVEL COL5A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054954.2 5 46.640053 KEEP 0 0 0 155 5434 CC 1 1 0 + 20 60 679 0 0 38.491569 653 60 23158 1040 ENST00000371817.3 0.029718 1 COL5A1 1289 __UNKNOWN__ __UNKNOWN__ 9 137592961 137592961 __UNKNOWN__ Intron SNP T T C rs4341231 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:137592961T>C ENST00000371817.3 + 4 905 COL5A1_ENST00000464187.1_Intron NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 NA NA axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313) basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062) extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) GCAGCAAAATTGCTTGAGCTG 0.517 NA C||| 3124 0.623802 0.702 0.3862 5008 , , NA 19860 0.7341 NA 0.5408 False NA ,,, NA NA NA 2504 0.6585 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D90279 CCDS6982.1, CCDS75932.1 9q34.2-q34.3 2014-09-17 ENSG00000130635 ENSG00000130635 1289 Collagens 2209 protein-coding gene gene with protein product alpha 1 type V collagen 120215 NA 1572660 Standard NM_000093 NM_001278074 NA Approved uc031tfl.1 P20908 OTTHUMG00000020891 ENST00000371817.3:c.492-56T>C chr9.hg19:g.137592961T>C NA Q15094|Q5SUX4 hg19 CCDS6982.1 0.02 1.980723 AATxGCT COVERED NOVEL COL5A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054954.2 1 8.420892 KEEP 0 0 0 28 802 TT 0.999997 0.999878 0 + 8 60 300 0 0 22.015891 84 60 2964 137 ENST00000371817.3 0.086957 0.999881 COL5A1 1289 __UNKNOWN__ __UNKNOWN__ 9 137600467 137600467 __UNKNOWN__ Intron SNP C C T rs55960630 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:137600467C>T ENST00000371817.3 + 4 1068 COL5A1_ENST00000464187.1_3'UTR NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 NA NA axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313) basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062) extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) CCCCTGGCAGCGGAACACCAG 0.622 NA C||| 637 0.127196 0.177 0.0965 5008 , , NA 19509 0.122 NA 0.0895 False NA ,,, NA NA NA 2504 0.1258 NA NA NA NA 0 C 276,1476 28,220,628 57 55 55 -1.6 0 9 dbSNP_129 55 379,3601 17,345,1628 no intron COL5A1 NM_000093.3 45,565,2256 TT,TC,CC 9.5226,15.7534,11.4271 137600467 655,5077 876 1990 2866 SO:0001627 intron_variant D90279 CCDS6982.1, CCDS75932.1 9q34.2-q34.3 2014-09-17 ENSG00000130635 ENSG00000130635 1289 Collagens 2209 protein-coding gene gene with protein product alpha 1 type V collagen 120215 NA 1572660 Standard NM_000093 NM_001278074 NA Approved uc031tfl.1 P20908 OTTHUMG00000020891 ENST00000371817.3:c.654+7288C>T chr9.hg19:g.137600467C>T NA Q15094|Q5SUX4 hg19 CCDS6982.1 0.02 3.458523 CAGxGGA COVERED NOVEL COL5A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054954.2 2 21.068329 KEEP 0 0 0 70 2458 CC 1 1 0 + 5 60 172 0 0 10.240797 134 60 4806 250 ENST00000371817.3 0.035971 1 COL5A1 1289 __UNKNOWN__ __UNKNOWN__ 9 137623534 137623534 __UNKNOWN__ Intron SNP C C T rs56385965 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:137623534C>T ENST00000371817.3 + 8 1746 NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 NA NA axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313) basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062) extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) GCCCCCGTTCCGGGTGGGGTT 0.657 NA C||| 1299 0.259385 0.1694 0.1427 5008 , , NA 9521 0.4246 NA 0.2018 False NA ,,, NA NA NA 2504 0.3528 NA NA NA NA 0 C 775,3629 75,625,1502 23 29 27 -3.2 0 9 dbSNP_129 27 1620,6976 160,1300,2838 no intron COL5A1 NM_000093.3 235,1925,4340 TT,TC,CC 18.846,17.5976,18.4231 137623534 2395,10605 2202 4298 6500 SO:0001627 intron_variant D90279 CCDS6982.1, CCDS75932.1 9q34.2-q34.3 2014-09-17 ENSG00000130635 ENSG00000130635 1289 Collagens 2209 protein-coding gene gene with protein product alpha 1 type V collagen 120215 NA 1572660 Standard NM_000093 NM_001278074 NA Approved uc031tfl.1 P20908 OTTHUMG00000020891 ENST00000371817.3:c.1332+25C>T chr9.hg19:g.137623534C>T NA Q15094|Q5SUX4 hg19 CCDS6982.1 0.02 9.074759 TTCxGGG COVERED NOVEL COL5A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054954.2 1 24.373827 KEEP 0 0 0 81 2633 CC 1 1 0 + 17 60 608 0 0 42.404319 219 60 6953 361 ENST00000371817.3 0.072034 1 COL5A1 1289 __UNKNOWN__ __UNKNOWN__ 9 137630568 137630568 __UNKNOWN__ Intron SNP C C T rs3109677 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:137630568C>T ENST00000371817.3 + 11 1845 NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 NA NA axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313) basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062) extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) CTTCTAACTGCCCCAACTTTA 0.577 NA C||| 2846 0.568291 0.8381 0.3242 5008 , , NA 15257 0.5109 NA 0.502 False NA ,,, NA NA NA 2504 0.5041 NA NA NA NA 0 C 3472,934 730.4+/-410.2 1381,710,112 50 66 60 -3.6 0 9 dbSNP_103 60 4221,4379 566.6+/-388.7 1030,2161,1109 no intron COL5A1 NM_000093.3 2411,2871,1221 TT,TC,CC 49.0814,21.1984,40.8504 137630568 7693,5313 2203 4300 6503 SO:0001627 intron_variant D90279 CCDS6982.1, CCDS75932.1 9q34.2-q34.3 2014-09-17 ENSG00000130635 ENSG00000130635 1289 Collagens 2209 protein-coding gene gene with protein product alpha 1 type V collagen 120215 NA 1572660 Standard NM_000093 NM_001278074 NA Approved uc031tfl.1 P20908 OTTHUMG00000020891 ENST00000371817.3:c.1432-24C>T chr9.hg19:g.137630568C>T NA Q15094|Q5SUX4 hg19 CCDS6982.1 0.02 13.12126 CTGxCCC COVERED NOVEL COL5A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054954.2 1 27.990838 KEEP 0 0 0 93 3307 CC 1 1 0 + 16 60 565 0 0 36.602548 304 60 11150 526 ENST00000371817.3 0.05 1 COL5A1 1289 __UNKNOWN__ __UNKNOWN__ 9 137630587 137630587 __UNKNOWN__ Intron SNP T T C rs3128612 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:137630587T>C ENST00000371817.3 + 11 1845 NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 NA NA axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313) basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062) extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) TATTTTTAATTCTAGGGTCTT 0.567 NA T||| 2851 0.569289 0.8381 0.3242 5008 , , NA 15656 0.5139 NA 0.503 False NA ,,, NA NA NA 2504 0.5051 NA NA NA NA 0 T 3476,930 733.5+/-410.5 1382,712,109 58 74 68 4.4 1 9 dbSNP_103 68 4215,4385 566.2+/-388.6 1031,2153,1116 no intron COL5A1 NM_000093.3 2413,2865,1225 CC,CT,TT 49.0116,21.1076,40.8658 137630587 7691,5315 2203 4300 6503 SO:0001627 intron_variant D90279 CCDS6982.1, CCDS75932.1 9q34.2-q34.3 2014-09-17 ENSG00000130635 ENSG00000130635 1289 Collagens 2209 protein-coding gene gene with protein product alpha 1 type V collagen 120215 NA 1572660 Standard NM_000093 NM_001278074 NA Approved uc031tfl.1 P20908 OTTHUMG00000020891 ENST00000371817.3:c.1432-5T>C chr9.hg19:g.137630587T>C NA Q15094|Q5SUX4 hg19 CCDS6982.1 0.02 13.915771 AATxCTA COVERED NOVEL COL5A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054954.2 1 29.486508 KEEP 0 0 0 98 3063 TT 1 1 0 + 16 60 592 0 0 39.506535 293 60 10685 507 ENST00000371817.3 0.05178 1 COL5A1 1289 __UNKNOWN__ __UNKNOWN__ 9 137642478 137642478 __UNKNOWN__ Intron SNP A A G rs12685946 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:137642478A>G ENST00000371817.3 + 12 1983 NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 NA NA axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313) basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062) extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) TACCCTTATCAGTCGGAGGTG 0.662 NA G||| 1500 0.299521 0.5295 0.1628 5008 , , NA 15515 0.3313 NA 0.2127 False NA ,,, NA NA NA 2504 0.1421 NA NA NA NA 0 G 2117,2289 589.5+/-387.1 527,1063,613 48 53 51 -6.5 0 9 dbSNP_120 51 1920,6680 715.7+/-406.1 232,1456,2612 no intron COL5A1 NM_000093.3 759,2519,3225 GG,GA,AA 22.3256,48.0481,31.0395 137642478 4037,8969 2203 4300 6503 SO:0001627 intron_variant D90279 CCDS6982.1, CCDS75932.1 9q34.2-q34.3 2014-09-17 ENSG00000130635 ENSG00000130635 1289 Collagens 2209 protein-coding gene gene with protein product alpha 1 type V collagen 120215 NA 1572660 Standard NM_000093 NM_001278074 NA Approved uc031tfl.1 P20908 OTTHUMG00000020891 ENST00000371817.3:c.1569+16A>G chr9.hg19:g.137642478A>G NA Q15094|Q5SUX4 hg19 CCDS6982.1 0.02 13.342477 ATCxGTC COVERED NOVEL COL5A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054954.2 1 24.963657 KEEP 0 0 0 83 2549 AA 1 1 0 + 27 60 933 0 0 66.576445 278 60 10325 503 ENST00000371817.3 0.088525 1 COL5A1 1289 __UNKNOWN__ __UNKNOWN__ 9 137642577 137642577 __UNKNOWN__ Intron SNP T T C rs12686426 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:137642577T>C ENST00000371817.3 + 13 1983 NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 NA NA axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313) basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062) extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) TCTCAGTCTGTGGTCTTGCCT 0.647 NA C||| 1053 0.210264 0.1581 0.1787 5008 , , NA 16727 0.3323 NA 0.2256 False NA ,,, NA NA NA 2504 0.1616 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D90279 CCDS6982.1, CCDS75932.1 9q34.2-q34.3 2014-09-17 ENSG00000130635 ENSG00000130635 1289 Collagens 2209 protein-coding gene gene with protein product alpha 1 type V collagen 120215 NA 1572660 Standard NM_000093 NM_001278074 NA Approved uc031tfl.1 P20908 OTTHUMG00000020891 ENST00000371817.3:c.1570-59T>C chr9.hg19:g.137642577T>C NA Q15094|Q5SUX4 hg19 CCDS6982.1 0.02 13.008948 CTGxGGT COVERED NOVEL COL5A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054954.2 0 21.232679 KEEP 0 2 73 96 2962 TT 1 1 0 + 25 60 835 0 0 57.713974 285 60 10309 516 ENST00000371817.3 0.080645 1 COL5A1 1289 __UNKNOWN__ __UNKNOWN__ 9 137646046 137646046 __UNKNOWN__ Intron SNP A A G rs11103501 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:137646046A>G ENST00000371817.3 + 16 2187 NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 NA NA axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313) basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062) extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) CGATGAGCACAGGGACAAGGC 0.612 NA G||| 955 0.190695 0.0915 0.1571 5008 , , NA 15047 0.3452 NA 0.2187 False NA ,,, NA NA NA 2504 0.1605 NA NA NA NA 0 G 198,1186 15,168,509 30 43 39 -1.5 0 9 dbSNP_120 39 732,2448 91,550,949 no intron COL5A1 NM_000093.3 106,718,1458 GG,GA,AA 23.0189,14.3064,20.3769 137646046 930,3634 692 1590 2282 SO:0001627 intron_variant D90279 CCDS6982.1, CCDS75932.1 9q34.2-q34.3 2014-09-17 ENSG00000130635 ENSG00000130635 1289 Collagens 2209 protein-coding gene gene with protein product alpha 1 type V collagen 120215 NA 1572660 Standard NM_000093 NM_001278074 NA Approved uc031tfl.1 P20908 OTTHUMG00000020891 ENST00000371817.3:c.1774-73A>G chr9.hg19:g.137646046A>G NA Q15094|Q5SUX4 hg19 CCDS6982.1 0.02 6.621675 CACxGGG COVERED NOVEL COL5A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054954.2 1 6.454247 KEEP 0 1 33 33 1040 AA 0.999998 0.999998 0 + 11 60 353 0 0 23.046822 165 60 5792 277 ENST00000371817.3 0.0625 1 COL5A1 1289 __UNKNOWN__ __UNKNOWN__ 9 137646217 137646217 __UNKNOWN__ Intron SNP G G A rs11103502 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:137646217G>A ENST00000371817.3 + 16 2241 NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 NA NA axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313) basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062) extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) CAGCTTGGGCGCTGGAGGAGC 0.657 NA G||| 799 0.159545 0.0635 0.1153 5008 , , NA 14932 0.3442 NA 0.17 False NA ,,, NA NA NA 2504 0.1196 NA NA NA NA 0 G 443,3963 211.2+/-231.4 23,397,1783 42 52 49 -6.1 0 9 dbSNP_120 49 1511,7089 284.0+/-296.4 144,1223,2933 no intron COL5A1 NM_000093.3 167,1620,4716 AA,AG,GG 17.5698,10.0545,15.0238 137646217 1954,11052 2203 4300 6503 SO:0001627 intron_variant D90279 CCDS6982.1, CCDS75932.1 9q34.2-q34.3 2014-09-17 ENSG00000130635 ENSG00000130635 1289 Collagens 2209 protein-coding gene gene with protein product alpha 1 type V collagen 120215 NA 1572660 Standard NM_000093 NM_001278074 NA Approved uc031tfl.1 P20908 OTTHUMG00000020891 ENST00000371817.3:c.1827+45G>A chr9.hg19:g.137646217G>A NA Q15094|Q5SUX4 hg19 CCDS6982.1 0.02 4.308565 GGCxCTG COVERED NOVEL COL5A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054954.2 2 7.459086 KEEP 0 1 32 36 1257 GG 1 1 0 + 7 60 265 0 0 17.93298 126 60 4572 201 ENST00000371817.3 0.052632 1 COL5A1 1289 __UNKNOWN__ __UNKNOWN__ 9 137658722 137658722 __UNKNOWN__ Intron SNP G G A rs4842158 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:137658722G>A ENST00000371817.3 + 23 2547 NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 NA NA axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313) basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062) extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) TTCCCTTCCCGCTGGCATTAG 0.617 NA C||| 777 0.155152 0.0378 0.111 5008 , , NA 17825 0.3452 NA 0.1501 False NA ,,, NA NA NA 2504 0.1544 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D90279 CCDS6982.1, CCDS75932.1 9q34.2-q34.3 2014-09-17 ENSG00000130635 ENSG00000130635 1289 Collagens 2209 protein-coding gene gene with protein product alpha 1 type V collagen 120215 NA 1572660 Standard NM_000093 NM_001278074 NA Approved uc031tfl.1 P20908 OTTHUMG00000020891 ENST00000371817.3:c.2134-124G>A chr9.hg19:g.137658722G>A NA Q15094|Q5SUX4 hg19 CCDS6982.1 0.02 2.123267 CCCxCTG COVERED NOVEL COL5A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054954.2 0 7.222674 KEEP 0 0 0 24 816 GG 0.999909 0.998605 0 + 6 60 217 0 0 15.459083 70 60 2381 122 ENST00000371817.3 0.078947 0.998696 COL5A1 1289 __UNKNOWN__ __UNKNOWN__ 9 137658730 137658730 __UNKNOWN__ Intron SNP T T C rs4842159 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:137658730T>C ENST00000371817.3 + 23 2547 NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 NA NA axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313) basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062) extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) CCGCTGGCATTAGGCAGTGGG 0.627 NA C||| 3451 0.689097 0.8971 0.5072 5008 , , NA 17726 0.8948 NA 0.4911 False NA ,,, NA NA NA 2504 0.5286 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D90279 CCDS6982.1, CCDS75932.1 9q34.2-q34.3 2014-09-17 ENSG00000130635 ENSG00000130635 1289 Collagens 2209 protein-coding gene gene with protein product alpha 1 type V collagen 120215 NA 1572660 Standard NM_000093 NM_001278074 NA Approved uc031tfl.1 P20908 OTTHUMG00000020891 ENST00000371817.3:c.2134-116T>C chr9.hg19:g.137658730T>C NA Q15094|Q5SUX4 hg19 CCDS6982.1 0.02 2.332799 CATxAGG COVERED NOVEL COL5A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054954.2 0 7.820531 KEEP 0 0 0 26 764 TT 0.999957 0.999634 0 + 6 60 242 0 0 17.613227 80 60 2815 136 ENST00000371817.3 0.069767 0.999678 COL5A1 1289 __UNKNOWN__ __UNKNOWN__ 9 137659005 137659005 __UNKNOWN__ Intron SNP A A T rs4842160 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:137659005A>T ENST00000371817.3 + 23 2601 NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 NA NA axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313) basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062) extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) CCCTCCAAGTAGCAGCCCCTC 0.627 NA A||| 1642 0.327875 0.3873 0.1888 5008 , , NA 17650 0.4067 NA 0.2783 False NA ,,, NA NA NA 2504 0.316 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D90279 CCDS6982.1, CCDS75932.1 9q34.2-q34.3 2014-09-17 ENSG00000130635 ENSG00000130635 1289 Collagens 2209 protein-coding gene gene with protein product alpha 1 type V collagen 120215 NA 1572660 Standard NM_000093 NM_001278074 NA Approved uc031tfl.1 P20908 OTTHUMG00000020891 ENST00000371817.3:c.2187+106A>T chr9.hg19:g.137659005A>T NA Q15094|Q5SUX4 hg19 CCDS6982.1 0.02 1.907083 AGTxGCA COVERED NOVEL COL5A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054954.2 2 4.814683 KEEP 0 0 0 16 502 AA 0.997832 0.997636 0 + 10 60 363 0 0 27.491026 79 60 2753 120 ENST00000371817.3 0.11236 0.999804 COL5A1 1289 __UNKNOWN__ __UNKNOWN__ 9 137660194 137660194 __UNKNOWN__ Intron SNP G G T rs4842162 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:137660194G>T ENST00000371817.3 + 25 2646 NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 NA NA axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313) basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062) extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) CTTGGTGGCCGACGGAGAGGT 0.582 NA T||| 2282 0.455671 0.4266 0.3862 5008 , , NA 18990 0.7083 NA 0.3151 False NA ,,, NA NA NA 2504 0.4284 NA NA NA NA 0 T 629,755 140,349,203 101 108 106 -6.6 0 9 dbSNP_111 106 1101,2081 200,701,690 no intron COL5A1 NM_000093.3 340,1050,893 TT,TG,GG 34.6009,45.448,37.8887 137660194 1730,2836 692 1591 2283 SO:0001627 intron_variant D90279 CCDS6982.1, CCDS75932.1 9q34.2-q34.3 2014-09-17 ENSG00000130635 ENSG00000130635 1289 Collagens 2209 protein-coding gene gene with protein product alpha 1 type V collagen 120215 NA 1572660 Standard NM_000093 NM_001278074 NA Approved uc031tfl.1 P20908 OTTHUMG00000020891 ENST00000371817.3:c.2233-62G>T chr9.hg19:g.137660194G>T NA Q15094|Q5SUX4 hg19 CCDS6982.1 0.02 6.581433 GCCxACG COVERED NOVEL COL5A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054954.2 1 7.824261 KEEP 0 0 0 26 862 GG 0.999957 0.999957 0 + 9 60 324 0 0 21.43721 160 60 5324 225 ENST00000371817.3 0.053254 1 COL5A1 1289 __UNKNOWN__ __UNKNOWN__ 9 137660375 137660375 __UNKNOWN__ Intron SNP A A G rs10776900 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:137660375A>G ENST00000371817.3 + 25 2700 NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 NA NA axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313) basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062) extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) ATAGGGCTGCAGGCCCAGGCT 0.597 NA a||| 2273 0.453874 0.4183 0.3876 5008 , , NA 17145 0.7083 NA 0.3161 False NA ,,, NA NA NA 2504 0.4284 NA NA NA NA 0 A 618,766 137,344,211 29 37 35 1.1 0 9 dbSNP_120 35 1103,2079 200,703,688 no intron COL5A1 NM_000093.3 337,1047,899 GG,GA,AA 34.6637,44.6532,37.6916 137660375 1721,2845 692 1591 2283 SO:0001627 intron_variant D90279 CCDS6982.1, CCDS75932.1 9q34.2-q34.3 2014-09-17 ENSG00000130635 ENSG00000130635 1289 Collagens 2209 protein-coding gene gene with protein product alpha 1 type V collagen 120215 NA 1572660 Standard NM_000093 NM_001278074 NA Approved uc031tfl.1 P20908 OTTHUMG00000020891 ENST00000371817.3:c.2286+66A>G chr9.hg19:g.137660375A>G NA Q15094|Q5SUX4 hg19 CCDS6982.1 0.02 4.645717 TGCxGGC COVERED NOVEL COL5A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054954.2 2 5.717089 KEEP 0 0 0 19 585 AA 0.99986 0.999847 0 + 8 60 285 0 0 20.003986 98 60 3643 145 ENST00000371817.3 0.075472 0.999987 COL5A1 1289 __UNKNOWN__ __UNKNOWN__ 9 137671814 137671814 __UNKNOWN__ Intron SNP A A G rs34589987 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:137671814A>G ENST00000371817.3 + 28 2799 NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 NA NA axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313) basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062) extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) TATGGGAGGAAGTGTGTTGAG 0.577 NA A||| 906 0.180911 0.3109 0.0793 5008 , , NA 17903 0.1458 NA 0.1282 False NA ,,, NA NA NA 2504 0.1677 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D90279 CCDS6982.1, CCDS75932.1 9q34.2-q34.3 2014-09-17 ENSG00000130635 ENSG00000130635 1289 Collagens 2209 protein-coding gene gene with protein product alpha 1 type V collagen 120215 NA 1572660 Standard NM_000093 NM_001278074 NA Approved uc031tfl.1 P20908 OTTHUMG00000020891 ENST00000371817.3:c.2386-134A>G chr9.hg19:g.137671814A>G NA Q15094|Q5SUX4 hg19 CCDS6982.1 0.02 4.704688 GGAxGTG COVERED NOVEL COL5A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054954.2 0 3.611038 KEEP 0 0 0 12 381 AA 0.993634 0.993633 0 + 7 60 268 0 0 18.528475 114 60 4035 144 ENST00000371817.3 0.057851 0.999999 COL5A1 1289 __UNKNOWN__ __UNKNOWN__ 9 137674391 137674391 __UNKNOWN__ Intron SNP A A G rs34489567 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:137674391A>G ENST00000371817.3 + 29 2844 NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 NA NA axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313) basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062) extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) CGTCCGGGCCATGTGCTGCCC 0.647 NA G||| 767 0.153155 0.2806 0.0821 5008 , , NA 15698 0.1329 NA 0.1252 False NA ,,, NA NA NA 2504 0.0808 NA NA NA NA 0 G 447,1305 60,327,489 58 66 64 -3 0 9 dbSNP_126 64 514,3468 35,444,1512 no intron COL5A1 NM_000093.3 95,771,2001 GG,GA,AA 12.9081,25.5137,16.7597 137674391 961,4773 876 1991 2867 SO:0001627 intron_variant D90279 CCDS6982.1, CCDS75932.1 9q34.2-q34.3 2014-09-17 ENSG00000130635 ENSG00000130635 1289 Collagens 2209 protein-coding gene gene with protein product alpha 1 type V collagen 120215 NA 1572660 Standard NM_000093 NM_001278074 NA Approved uc031tfl.1 P20908 OTTHUMG00000020891 ENST00000371817.3:c.2431-122A>G chr9.hg19:g.137674391A>G NA Q15094|Q5SUX4 hg19 CCDS6982.1 0.02 3.286226 GCCxTGT COVERED NOVEL COL5A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054954.2 0 8.124552 KEEP 0 0 0 27 847 AA 0.999988 0.999988 0 + 9 60 278 0 0 17.751057 126 60 4538 188 ENST00000371817.3 0.066667 1 COL5A1 1289 __UNKNOWN__ __UNKNOWN__ 9 137674488 137674488 __UNKNOWN__ Intron SNP G G A rs41310213 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:137674488G>A ENST00000371817.3 + 29 2844 NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 NA NA axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313) basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062) extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) GCCTAGACTAGGGCACTCTCT 0.592 NA A||| 766 0.152955 0.2806 0.0807 5008 , , NA 16407 0.1329 NA 0.1252 False NA ,,, NA NA NA 2504 0.0808 NA NA NA NA 0 A 1128,3278 717.2+/-408.7 150,828,1225 194 188 190 2.9 0 9 dbSNP_127 190 1088,7512 769.0+/-407.6 83,922,3295 no intron COL5A1 NM_000093.3 233,1750,4520 AA,AG,GG 12.6512,25.6015,17.0383 137674488 2216,10790 2203 4300 6503 SO:0001627 intron_variant D90279 CCDS6982.1, CCDS75932.1 9q34.2-q34.3 2014-09-17 ENSG00000130635 ENSG00000130635 1289 Collagens 2209 protein-coding gene gene with protein product alpha 1 type V collagen 120215 NA 1572660 Standard NM_000093 NM_001278074 NA Approved uc031tfl.1 P20908 OTTHUMG00000020891 ENST00000371817.3:c.2431-25G>A chr9.hg19:g.137674488G>A NA Q15094|Q5SUX4 hg19 CCDS6982.1 0.02 11.977449 CTAxGGC COVERED NOVEL COL5A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054954.2 1 20.767334 KEEP 0 0 0 69 2483 GG 1 1 0 + 23 60 849 0 0 61.77056 246 60 9277 446 ENST00000371817.3 0.085502 1 COL5A1 1289 __UNKNOWN__ __UNKNOWN__ 9 137677017 137677017 __UNKNOWN__ Intron SNP G G A rs71506921 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:137677017G>A ENST00000371817.3 + 30 3006 NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 NA NA axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313) basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062) extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) TCGGGCTCCCGTTGGCTGTGG 0.617 NA g||| 95 0.0189696 0.0038 0.0274 5008 , , NA 15559 0.001 NA 0.0527 False NA ,,, NA NA NA 2504 0.0174 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D90279 CCDS6982.1, CCDS75932.1 9q34.2-q34.3 2014-09-17 ENSG00000130635 ENSG00000130635 1289 Collagens 2209 protein-coding gene gene with protein product alpha 1 type V collagen 120215 NA 1572660 Standard NM_000093 NM_001278074 NA Approved uc031tfl.1 P20908 OTTHUMG00000020891 ENST00000371817.3:c.2592+75G>A chr9.hg19:g.137677017G>A NA Q15094|Q5SUX4 hg19 CCDS6982.1 0.02 4.363663 CCCxTTG COVERED NOVEL COL5A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054954.2 0 7.223367 KEEP 0 0 0 24 841 GG 0.999909 0.999909 0 + 8 60 290 0 0 19.861315 119 60 4324 173 ENST00000371817.3 0.062992 1 COL5A1 1289 __UNKNOWN__ __UNKNOWN__ 9 137677921 137677921 __UNKNOWN__ Intron SNP C C T rs13301426 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:137677921C>T ENST00000371817.3 + 31 3060 NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 NA NA axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313) basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062) extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) TTAGGTGTCCCGGGACAGGCG 0.587 NA c||| 305 0.0609026 0.087 0.0519 5008 , , NA 18461 0.0298 NA 0.0805 False NA ,,, NA NA NA 2504 0.044 NA NA NA NA 0 308,4092 157.8+/-190.6 7,294,1899 108 76 87 -4 0 9 dbSNP_121 87 650,7944 156.9+/-210.6 33,584,3680 no intron COL5A1 NM_000093.3 40,878,5579 TT,TC,CC 7.5634,7.0,7.3726 137677921 958,12036 2200 4297 6497 SO:0001627 intron_variant D90279 CCDS6982.1, CCDS75932.1 9q34.2-q34.3 2014-09-17 ENSG00000130635 ENSG00000130635 1289 Collagens 2209 protein-coding gene gene with protein product alpha 1 type V collagen 120215 NA 1572660 Standard NM_000093 NM_001278074 NA Approved uc031tfl.1 P20908 OTTHUMG00000020891 ENST00000371817.3:c.2646+27C>T chr9.hg19:g.137677921C>T NA Q15094|Q5SUX4 hg19 CCDS6982.1 0.02 9.155983 TCCxGGG COVERED NOVEL COL5A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054954.2 0 9.261569 KEEP 0 1 29 41 1349 CC 1 1 0 + 7 60 271 0 0 16.720215 232 60 7786 326 ENST00000371817.3 0.029289 1 COL5A1 1289 __UNKNOWN__ __UNKNOWN__ 9 137690318 137690318 __UNKNOWN__ Intron SNP A A T rs4240707 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:137690318A>T ENST00000371817.3 + 37 3366 NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 NA NA axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313) basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062) extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) GTGAGTATCGAGGGTGCTGGG 0.622 NA T||| 2819 0.562899 0.5461 0.4683 5008 , , NA 17589 0.7738 NA 0.4523 False NA ,,, NA NA NA 2504 0.5491 NA NA NA NA 0 T 2472,1934 547.8+/-377.4 688,1096,419 100 81 88 0.4 0 9 dbSNP_111 88 4299,4301 577.0+/-390.5 1087,2125,1088 no intron COL5A1 NM_000093.3 1775,3221,1507 TT,TA,AA 49.9884,43.8947,47.9394 137690318 6771,6235 2203 4300 6503 SO:0001627 intron_variant D90279 CCDS6982.1, CCDS75932.1 9q34.2-q34.3 2014-09-17 ENSG00000130635 ENSG00000130635 1289 Collagens 2209 protein-coding gene gene with protein product alpha 1 type V collagen 120215 NA 1572660 Standard NM_000093 NM_001278074 NA Approved uc031tfl.1 P20908 OTTHUMG00000020891 ENST00000371817.3:c.2952+11A>T chr9.hg19:g.137690318A>T NA Q15094|Q5SUX4 hg19 CCDS6982.1 0.02 8.167695 TCGxGGG COVERED NOVEL COL5A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054954.2 0 25.876441 KEEP 0 0 0 86 2684 AA 1 1 0 + 8 60 288 0 0 17.264716 241 60 8905 410 ENST00000371817.3 0.032129 1 COL5A1 1289 __UNKNOWN__ __UNKNOWN__ 9 137694032 137694032 __UNKNOWN__ Intron SNP C C A rs10858281 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:137694032C>A ENST00000371817.3 + 38 3420 NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 NA NA axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313) basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062) extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) GGAGCAAGCACAGATGTGTTT 0.602 NA A||| 3253 0.649561 0.708 0.5476 5008 , , NA 21770 0.8234 NA 0.5358 False NA ,,, NA NA NA 2504 0.5808 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D90279 CCDS6982.1, CCDS75932.1 9q34.2-q34.3 2014-09-17 ENSG00000130635 ENSG00000130635 1289 Collagens 2209 protein-coding gene gene with protein product alpha 1 type V collagen 120215 NA 1572660 Standard NM_000093 NM_001278074 NA Approved uc031tfl.1 P20908 OTTHUMG00000020891 ENST00000371817.3:c.3006+179C>A chr9.hg19:g.137694032C>A NA Q15094|Q5SUX4 hg19 CCDS6982.1 0.02 1.546359 GCAxAGA COVERED NOVEL COL5A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054954.2 2 4.815337 KEEP 0 0 0 16 544 CC 0.997832 0.997762 0 + 6 60 203 0 0 13.420507 90 60 3437 117 ENST00000371817.3 0.0625 0.99993 COL5A1 1289 __UNKNOWN__ __UNKNOWN__ 9 137707834 137707834 __UNKNOWN__ Splice_Site SNP G G A rs3827848 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:137707834G>A ENST00000371817.3 + 52 4536 c.4122G>A c.(4120-4122)acG>acA p.T1374T NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 1374 Triple-helical region. NA axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313) basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062) extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394) p.T1374T(2) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) CCGGGCAGACGGTGAGTCCAC 0.552 NA G||| 650 0.129792 0.1014 0.0994 5008 , , NA 20008 0.1696 NA 0.1392 False NA ,,, NA NA NA 2504 0.1391 NA NA NA NA 2 Substitution - coding silent(2) prostate(1)|stomach(1) G 486,3920 228.1+/-243.1 34,418,1751 143 131 135 4122 3.2 1 9 dbSNP_107 135 1358,7242 264.8+/-285.7 114,1130,3056 yes coding-synonymous-near-splice COL5A1 NM_000093.3 148,1548,4807 AA,AG,GG 15.7907,11.0304,14.1781 1374/1839 137707834 1844,11162 2203 4300 6503 SO:0001630 splice_region_variant D90279 CCDS6982.1, CCDS75932.1 9q34.2-q34.3 2014-09-17 ENSG00000130635 ENSG00000130635 1289 Collagens 2209 protein-coding gene gene with protein product alpha 1 type V collagen 120215 NA 1572660 Standard NM_000093 NM_001278074 NA Approved uc031tfl.1 P20908 OTTHUMG00000020891 ENST00000371817.3:c.4122+1G>A chr9.hg19:g.137707834G>A NA Q15094|Q5SUX4 hg19 CCDS6982.1 0.02 11.367802 GACxGTG COVERED NOVEL COL5A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054954.2 5 21.667854 KEEP 0 0 0 72 2448 GG 1 1 0 Silent + 12 60 456 0 0 29.595411 280 60 9743 458 ENST00000371817.3 0.041096 1 COL5A1 1289 __UNKNOWN__ __UNKNOWN__ 9 137707942 137707942 __UNKNOWN__ Intron SNP T T C rs4841934 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:137707942T>C ENST00000371817.3 + 52 4536 NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 NA NA axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313) basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062) extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) TAGTTGATATTGATTCCTTTA 0.423 NA T||| 3017 0.602436 0.8986 0.5159 5008 , , NA 22656 0.4901 NA 0.5199 False NA ,,, NA NA NA 2504 0.4642 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D90279 CCDS6982.1, CCDS75932.1 9q34.2-q34.3 2014-09-17 ENSG00000130635 ENSG00000130635 1289 Collagens 2209 protein-coding gene gene with protein product alpha 1 type V collagen 120215 NA 1572660 Standard NM_000093 NM_001278074 NA Approved uc031tfl.1 P20908 OTTHUMG00000020891 ENST00000371817.3:c.4122+108T>C chr9.hg19:g.137707942T>C NA Q15094|Q5SUX4 hg19 CCDS6982.1 0.02 7.811864 TATxGAT COVERED NOVEL COL5A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054954.2 1 11.134374 KEEP 0 0 0 37 1194 TT 1 1 0 + 17 60 561 0 0 38.589242 193 60 7133 280 ENST00000371817.3 0.080952 1 COL5A1 1289 __UNKNOWN__ __UNKNOWN__ 9 137709780 137709780 __UNKNOWN__ Intron SNP T T C rs11792894 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:137709780T>C ENST00000371817.3 + 54 4644 NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 NA NA axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313) basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062) extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) CCATGGAGGCTGAGAGTGGCT 0.642 NA C||| 2916 0.582268 0.8374 0.5043 5008 , , NA 16042 0.4881 NA 0.5119 False NA ,,, NA NA NA 2504 0.4622 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D90279 CCDS6982.1, CCDS75932.1 9q34.2-q34.3 2014-09-17 ENSG00000130635 ENSG00000130635 1289 Collagens 2209 protein-coding gene gene with protein product alpha 1 type V collagen 120215 NA 1572660 Standard NM_000093 NM_001278074 NA Approved uc031tfl.1 P20908 OTTHUMG00000020891 ENST00000371817.3:c.4230+103T>C chr9.hg19:g.137709780T>C NA Q15094|Q5SUX4 hg19 CCDS6982.1 0.02 2.341962 GGCxGAG COVERED NOVEL COL5A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054954.2 0 2.407579 KEEP 0 0 0 8 262 TT 0.99257 0.992195 0 + 5 60 184 0 0 12.531778 80 60 2933 100 ENST00000371817.3 0.058824 0.999622 COL5A1 1289 __UNKNOWN__ __UNKNOWN__ 9 137710961 137710961 __UNKNOWN__ Intron SNP G G A rs10745388 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:137710961G>A ENST00000371817.3 + 57 4860 NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 NA NA axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313) basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062) extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) GTGGCCGTGGGTCTCAAACTC 0.547 NA G||| 2281 0.455471 0.5477 0.3905 5008 , , NA 16244 0.4038 NA 0.4543 False NA ,,, NA NA NA 2504 0.4315 NA NA NA NA 0 G 744,640 204,336,152 16 19 18 -2.8 0 9 dbSNP_120 18 1593,1589 404,785,402 no intron COL5A1 NM_000093.3 608,1121,554 AA,AG,GG 49.9371,46.2428,48.8173 137710961 2337,2229 692 1591 2283 SO:0001627 intron_variant D90279 CCDS6982.1, CCDS75932.1 9q34.2-q34.3 2014-09-17 ENSG00000130635 ENSG00000130635 1289 Collagens 2209 protein-coding gene gene with protein product alpha 1 type V collagen 120215 NA 1572660 Standard NM_000093 NM_001278074 NA Approved uc031tfl.1 P20908 OTTHUMG00000020891 ENST00000371817.3:c.4446+62G>A chr9.hg19:g.137710961G>A NA Q15094|Q5SUX4 hg19 CCDS6982.1 0.02 2.115424 TGGxTCT COVERED NOVEL COL5A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054954.2 2 6.01889 KEEP 0 0 0 20 692 GG 0.999863 0.999631 0 + 11 60 404 0 0 31.252089 77 60 2837 126 ENST00000371817.3 0.125 0.999768 COL5A1 1289 __UNKNOWN__ __UNKNOWN__ 9 137711997 137711997 __UNKNOWN__ Silent SNP G G C rs2228560 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:137711997G>C ENST00000371817.3 + 58 4896 c.4482G>C c.(4480-4482)ccG>ccC p.P1494P NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 1494 Triple-helical region. NA axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313) basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062) extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) TCGGTCCTCCGGGTGAACAGG 0.627 NA G||| 2044 0.408147 0.5416 0.3256 5008 , , NA 21008 0.375 NA 0.3439 False NA ,,, NA NA NA 2504 0.3865 NA NA NA NA 0 G 2257,2149 590,1077,536 101 95 97 4482 -9.4 0 9 dbSNP_107 97 3273,5327 731,1811,1758 no coding-synonymous COL5A1 NM_000093.3 1321,2888,2294 CC,CG,GG 38.0581,48.7744,42.5188 1494/1839 137711997 5530,7476 2203 4300 6503 SO:0001819 synonymous_variant D90279 CCDS6982.1, CCDS75932.1 9q34.2-q34.3 2014-09-17 ENSG00000130635 ENSG00000130635 1289 Collagens 2209 protein-coding gene gene with protein product alpha 1 type V collagen 120215 NA 1572660 Standard NM_000093 NM_001278074 NA Approved uc031tfl.1 P20908 OTTHUMG00000020891 ENST00000371817.3:c.4482G>C chr9.hg19:g.137711997G>C NA Q15094|Q5SUX4 hg19 CCDS6982.1 0.02 20.012761 TCCxGGT COVERED NOVEL COL5A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054954.2 0 27.386539 KEEP 0 0 0 91 3110 GG 1 1 0 + 33 60 1174 0 0 83.398244 375 60 13217 617 ENST00000371817.3 0.080882 1 COL5A1 1289 __UNKNOWN__ __UNKNOWN__ 9 137714027 137714027 __UNKNOWN__ Intron SNP T T C rs9697186 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:137714027T>C ENST00000371817.3 + 59 5022 NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 NA NA axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313) basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062) extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) TGGTCATTCCTGGGAGGGCAG 0.602 NA C||| 3052 0.609425 0.907 0.513 5008 , , NA 14408 0.498 NA 0.5338 False NA ,,, NA NA NA 2504 0.4683 NA NA NA NA 0 C 3729,677 271.9+/-270.5 1577,575,51 45 50 49 -0.7 0 9 dbSNP_119 49 4949,3651 507.5+/-376.8 1448,2053,799 no intron COL5A1 NM_000093.3 3025,2628,850 CC,CT,TT 42.4535,15.3654,33.2769 137714027 8678,4328 2203 4300 6503 SO:0001627 intron_variant D90279 CCDS6982.1, CCDS75932.1 9q34.2-q34.3 2014-09-17 ENSG00000130635 ENSG00000130635 1289 Collagens 2209 protein-coding gene gene with protein product alpha 1 type V collagen 120215 NA 1572660 Standard NM_000093 NM_001278074 NA Approved uc031tfl.1 P20908 OTTHUMG00000020891 ENST00000371817.3:c.4608+31T>C chr9.hg19:g.137714027T>C NA Q15094|Q5SUX4 hg19 CCDS6982.1 0.02 2.126324 TCCxGGG COVERED NOVEL COL5A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054954.2 0 3.610884 KEEP 0 0 0 12 374 TT 0.993634 0.986604 0 + 10 60 337 0 0 26.427945 54 60 1977 91 ENST00000371817.3 0.15625 0.992926 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 137740697 137740697 __UNKNOWN__ IGR SNP G G A rs112715813 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:137740697G>A NA NA COL5A1 (4011 upstream) : AL603650.2 (121 downstream) NA NA NA CAGGAAGCACGGGATCACACC 0.617 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.137740697G>A NA hg19 0.02 8.823221 CACxGGA COVERED NOVEL 0 2 20.463954 KEEP 21 0 0 68 2286 GG 1 1 0 9 60 320 0 0 20.265696 198 60 6296 394 0.043478 1 AL603650.4 0 __UNKNOWN__ __UNKNOWN__ 9 137741765 137741765 __UNKNOWN__ RNA SNP T T C rs200490156 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:137741765T>C ENST00000583817.1 - 0 41 NA NA NA TATCACACCTTCCAGGAAGCA 0.557 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000583817.1: chr9.hg19:g.137741765T>C NA hg19 0.02 2.212003 CCTxCCA COVERED NOVEL AL603650.4-201 NOVEL basic miRNA NA miRNA 4 7.817963 KEEP 1 0 0 26 768 TT 0.999957 0.999919 0 - 18 60 656 0 0 54.190227 77 60 2505 147 ENST00000583817.1 0.189474 0.999962 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 137741944 137741944 __UNKNOWN__ IGR SNP C C T rs71483238 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:137741944C>T NA NA AL603650.1 (30 upstream) : MIR3689B (26 downstream) NA NA NA CCAGGGAGCACGGGATCACAC 0.617 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.137741944C>T NA hg19 0.02 11.993567 GCAxGGG COVERED NOVEL 0 6 32.484286 KEEP 41 0 0 108 3718 CC 1 1 0 10 60 329 0 0 18.728472 294 60 10112 608 0.032895 1 OLFM1 10439 __UNKNOWN__ __UNKNOWN__ 9 137978552 137978552 __UNKNOWN__ Intron SNP A A G rs4446800 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:137978552A>G ENST00000252854.4 + 2 283 OLFM1_ENST00000277415.11_Intron NM_014279.4 NP_055094.1 Q99784 NOE1_HUMAN olfactomedin 1 NA NA negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of neuron migration (GO:2001223)|nervous system development (GO:0007399)|protein oligomerization (GO:0051259) alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202) beta-amyloid binding (GO:0001540) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2) 21 Myeloproliferative disorder(178;0.0333) Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07) CCTGCGCTTCAGGTGGGACTG 0.612 NA OREG0019606 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) G||| 2731 0.545327 0.7927 0.3314 5008 , , NA 12641 0.5952 NA 0.3837 False NA ,,, NA NA NA 2504 0.4775 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF035301 CCDS6986.1, CCDS6987.1, CCDS65183.1, CCDS65184.1 9q34.3 2014-01-20 ENSG00000130558 ENSG00000130558 10439 17187 protein-coding gene gene with protein product pancortin 605366 NA 9039501 Standard NM_014279 NM_006334 NA Approved NOE1, OlfA, AMY, NOELIN uc004cfl.4 Q99784 OTTHUMG00000020897 ENST00000252854.4:c.97-3489A>G chr9.hg19:g.137978552A>G 1637 Q53XZ8|Q6IMJ4|Q6IMJ5|Q8N8R0|Q969S7|Q99452 hg19 CCDS6986.1 0.02 4.068358 TTCxGGT COVERED 1110 0.5082417582417582 371 0.7540650406504065 123 0.3397790055248619 327 0.5716783216783217 289 0.3812664907651715 g 0.470 -0.885035 0.02511 . . ENSG00000130558 ENST00000339720 T 0.30182 1.54 1.13 -2.27 0.06846 . . . . . T 0.00012 0.0000 . . . 0.58432 P 1.0000000000287557E-6 . . . . . . T 0.31916 -0.9926 5 0.21014 T 0.42 . 4.5569 0.12141 0.4222:0.347:0.2308:0.0 rs4446800 . . . R 34 ENSP00000340318:Q34R ENSP00000340318:Q34R Q + 2 0 OLFM1 137118373 0.001000 0.12720 0.000000 0.03702 0.000000 0.00434 -0.623000 0.05546 -2.177000 0.00769 -1.436000 0.01078 CAG NOVEL OLFM1-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000054971.1 1 6.286918 KEEP 0 2 63 43 1348 AA 1 1 0 + 8 60 275 0 0 17.792256 141 60 5227 220 ENST00000252854.4 0.053691 1 PPP1R26 9858 __UNKNOWN__ __UNKNOWN__ 9 138376972 138376972 __UNKNOWN__ Missense_Mutation SNP A A G rs3928777 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:138376972A>G ENST00000356818.2 + 4 1165 c.616A>G c.(616-618)Aag>Gag p.K206E PPP1R26_ENST00000604351.1_Missense_Mutation_p.K206E|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605660.1_Missense_Mutation_p.K206E|PPP1R26_ENST00000401470.3_Missense_Mutation_p.K206E|PPP1R26_ENST00000605286.1_Missense_Mutation_p.K206E NM_014811.3 NP_055626.3 Q5T8A7 PPR26_HUMAN protein phosphatase 1, regulatory subunit 26 206 NA K -> E (in dbSNP:rs3928777). {ECO:0000269|PubMed:15489334}. negative regulation of phosphatase activity (GO:0010923) nucleus (GO:0005634) phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864) NA GGGATCCAGCAAGGACCAGGG 0.607 NA G||| 2059 0.411142 0.2927 0.4899 5008 , , NA 17027 0.6319 NA 0.2107 False NA ,,, NA NA NA 2504 0.4939 NA NA NA NA 0 G GLU/LYS 1123,3281 138,847,1217 48 57 54 616 -5 0 9 dbSNP_108 54 1779,6809 195,1389,2710 yes missense KIAA0649 NM_014811.3 56 333,2236,3927 GG,GA,AA 20.715,25.4995,22.3368 benign 206/1210 138376972 2902,10090 2202 4294 6496 SO:0001583 missense AB014549 CCDS6988.1 9q34.3 2012-04-17 2011-10-11 2011-10-11 ENSG00000196422 ENSG00000196422 9858 Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits 29089 protein-coding gene gene with protein product DRIM/UTP20 interacting protein, 1A6/DRIM (down-regulated in metastasis) interacting protein 614056 KIAA0649 KIAA0649 NA 9734811, 16053918 Standard NM_014811 NM_014811 NA Approved uc004cfr.1 Q5T8A7 OTTHUMG00000020904 ENST00000356818.2:c.616A>G chr9.hg19:g.138376972A>G ENSP00000349274:p.Lys206Glu NA Q86WU0|Q8WVV0|Q9Y4D3 hg19 CCDS6988.1 0.02 4.047947 AGCxAGG COVERED 825 0.37774725274725274 124 0.25203252032520324 158 0.43646408839779005 385 0.6730769230769231 158 0.20844327176781002 G 1.359 -0.589194 0.03799 0.254995 0.20715 ENSG00000196422 ENST00000356818 T 0.08370 3.1 5.4 -4.97 0.03029 . 1.900700 0.02781 N 0.120907 T 0.00012 0.0000 N 0.01352 -0.895 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.38134 -0.9675 9 0.02654 T 1 0.0044 4.3603 0.11199 0.2545:0.4099:0.2528:0.0828 rs3928777;rs17846423;rs17859469;rs56846731 206 Q5T8A7 PPR26_HUMAN E 206 ENSP00000349274:K206E ENSP00000349274:K206E K + 1 0 KIAA0649 137516793 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -0.040000 0.12104 -2.103000 0.00844 -2.245000 0.00285 AAG NOVEL PPP1R26-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054987.1 4 18.352491 KEEP 0 0 0 61 1888 AA 1 1 0 + 6 60 196 0 0 11.72122 134 60 4898 260 ENST00000356818.2 0.042857 1 PPP1R26 9858 __UNKNOWN__ __UNKNOWN__ 9 138377657 138377657 __UNKNOWN__ Missense_Mutation SNP T T C rs1808998 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:138377657T>C ENST00000356818.2 + 4 1850 c.1301T>C c.(1300-1302)aTg>aCg p.M434T PPP1R26_ENST00000604351.1_Missense_Mutation_p.M434T|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605660.1_Missense_Mutation_p.M434T|PPP1R26_ENST00000401470.3_Missense_Mutation_p.M434T|PPP1R26_ENST00000605286.1_Missense_Mutation_p.M434T NM_014811.3 NP_055626.3 Q5T8A7 PPR26_HUMAN protein phosphatase 1, regulatory subunit 26 434 NA M -> T (in dbSNP:rs1808998). {ECO:0000269|PubMed:15489334}. negative regulation of phosphatase activity (GO:0010923) nucleus (GO:0005634) phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864) NA ACCAAGACCATGGACCCTGGT 0.592 NA C||| 2324 0.464058 0.4183 0.5231 5008 , , NA 18270 0.6825 NA 0.2147 False NA ,,, NA NA NA 2504 0.5153 NA NA NA NA 0 C THR/MET 1645,2761 636.1+/-396.5 304,1037,862 33 37 36 1301 -2 0 9 dbSNP_92 36 1822,6778 713.3+/-405.9 201,1420,2679 yes missense KIAA0649 NM_014811.3 81 505,2457,3541 CC,CT,TT 21.186,37.3355,26.6569 benign 434/1210 138377657 3467,9539 2203 4300 6503 SO:0001583 missense AB014549 CCDS6988.1 9q34.3 2012-04-17 2011-10-11 2011-10-11 ENSG00000196422 ENSG00000196422 9858 Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits 29089 protein-coding gene gene with protein product DRIM/UTP20 interacting protein, 1A6/DRIM (down-regulated in metastasis) interacting protein 614056 KIAA0649 KIAA0649 NA 9734811, 16053918 Standard NM_014811 NM_014811 NA Approved uc004cfr.1 Q5T8A7 OTTHUMG00000020904 ENST00000356818.2:c.1301T>C chr9.hg19:g.138377657T>C ENSP00000349274:p.Met434Thr NA Q86WU0|Q8WVV0|Q9Y4D3 hg19 CCDS6988.1 0.02 1.89494 CCAxGGA COVERED 908 0.4157509157509158 168 0.34146341463414637 163 0.45027624309392267 416 0.7272727272727273 161 0.21240105540897097 C 0.016 -1.520221 0.00967 0.373355 0.21186 ENSG00000196422 ENST00000356818 T 0.08102 3.13 5.06 -1.98 0.07480 . 1.322620 0.05171 N 0.499637 T 0.00012 0.0000 N 0.00729 -1.24 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.39921 -0.9590 9 0.02654 T 1 0.4383 1.8933 0.03252 0.1239:0.3712:0.1217:0.3833 rs1808998;rs3748193;rs17846421;rs17859466;rs1808998 434 Q5T8A7 PPR26_HUMAN T 434 ENSP00000349274:M434T ENSP00000349274:M434T M + 2 0 KIAA0649 137517478 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -0.935000 0.03950 -1.293000 0.02362 -1.859000 0.00561 ATG NOVEL PPP1R26-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054987.1 1 4.21083 KEEP 0 0 0 14 400 TT 0.995343 0.994457 0 + 5 60 179 0 0 12.193818 74 60 2641 97 ENST00000356818.2 0.063291 0.99911 PPP1R26 9858 __UNKNOWN__ __UNKNOWN__ 9 138377915 138377915 __UNKNOWN__ Missense_Mutation SNP G G A rs3748195 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:138377915G>A ENST00000356818.2 + 4 2108 c.1559G>A c.(1558-1560)cGc>cAc p.R520H PPP1R26_ENST00000604351.1_Missense_Mutation_p.R520H|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605660.1_Missense_Mutation_p.R520H|PPP1R26_ENST00000401470.3_Missense_Mutation_p.R520H|PPP1R26_ENST00000605286.1_Missense_Mutation_p.R520H NM_014811.3 NP_055626.3 Q5T8A7 PPR26_HUMAN protein phosphatase 1, regulatory subunit 26 520 NA R -> H (in dbSNP:rs3748195). negative regulation of phosphatase activity (GO:0010923) nucleus (GO:0005634) phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864) NA GTGCCTTCCCGCTCTGACGGC 0.607 NA G||| 699 0.139577 0.0008 0.183 5008 , , NA 20518 0.4623 NA 0.006 False NA ,,, NA NA NA 2504 0.1012 NA NA NA NA 0 G HIS/ARG 36,4370 42.3+/-75.8 0,36,2167 77 74 75 1559 -1.4 0 9 dbSNP_107 75 124,8476 62.8+/-124.8 2,120,4178 no missense KIAA0649 NM_014811.3 29 2,156,6345 AA,AG,GG 1.4419,0.8171,1.2302 possibly-damaging 520/1210 138377915 160,12846 2203 4300 6503 SO:0001583 missense AB014549 CCDS6988.1 9q34.3 2012-04-17 2011-10-11 2011-10-11 ENSG00000196422 ENSG00000196422 9858 Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits 29089 protein-coding gene gene with protein product DRIM/UTP20 interacting protein, 1A6/DRIM (down-regulated in metastasis) interacting protein 614056 KIAA0649 KIAA0649 NA 9734811, 16053918 Standard NM_014811 NM_014811 NA Approved uc004cfr.1 Q5T8A7 OTTHUMG00000020904 ENST00000356818.2:c.1559G>A chr9.hg19:g.138377915G>A ENSP00000349274:p.Arg520His NA Q86WU0|Q8WVV0|Q9Y4D3 hg19 CCDS6988.1 0.02 1.716316 CCCxCTC COVERED 335 0.1533882783882784 1 0.0020325203252032522 48 0.13259668508287292 282 0.493006993006993 4 0.005277044854881266 G 6.113 0.389128 0.11581 0.008171 0.014419 ENSG00000196422 ENST00000356818 T 0.20200 2.09 5.55 -1.37 0.09056 . 0.694316 0.14918 N 0.290851 T 0.00012 0.0000 L 0.39633 1.23 0.80722 P 0.0 B 0.14805 0.011 B 0.09377 0.004 T 0.46596 -0.9180 9 0.30854 T 0.27 -6.5105 7.0084 0.24849 0.4827:0.0:0.4039:0.1134 rs3748195;rs52804208;rs3748195 520 Q5T8A7 PPR26_HUMAN H 520 ENSP00000349274:R520H ENSP00000349274:R520H R + 2 0 KIAA0649 137517736 0.000000 0.05858 0.001000 0.08648 0.006000 0.05464 0.395000 0.20850 -0.158000 0.11040 0.561000 0.74099 CGC NOVEL PPP1R26-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054987.1 0 3.00834 KEEP 0 0 0 10 317 GG 0.992708 0.992477 0 + 4 60 139 0 0 8.745948 84 60 3014 106 ENST00000356818.2 0.045455 0.999768 PPP1R26 9858 __UNKNOWN__ __UNKNOWN__ 9 138380232 138380232 __UNKNOWN__ 3'UTR SNP A A G rs41299044 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:138380232A>G ENST00000356818.2 + 0 4425 PPP1R26_ENST00000604351.1_3'UTR|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605660.1_3'UTR|PPP1R26_ENST00000401470.3_3'UTR|PPP1R26_ENST00000605286.1_3'UTR NM_014811.3 NP_055626.3 Q5T8A7 PPR26_HUMAN protein phosphatase 1, regulatory subunit 26 NA NA negative regulation of phosphatase activity (GO:0010923) nucleus (GO:0005634) phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864) NA ACTGTTGTTCAATTTTGTAGG 0.333 NA A||| 179 0.0357428 0.0393 0.0418 5008 , , NA 20888 0.0139 NA 0.0318 False NA ,,, NA NA NA 2504 0.0532 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB014549 CCDS6988.1 9q34.3 2012-04-17 2011-10-11 2011-10-11 ENSG00000196422 ENSG00000196422 9858 Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits 29089 protein-coding gene gene with protein product DRIM/UTP20 interacting protein, 1A6/DRIM (down-regulated in metastasis) interacting protein 614056 KIAA0649 KIAA0649 NA 9734811, 16053918 Standard NM_014811 NM_014811 NA Approved uc004cfr.1 Q5T8A7 OTTHUMG00000020904 ENST00000356818.2:c.*246A>G chr9.hg19:g.138380232A>G NA Q86WU0|Q8WVV0|Q9Y4D3 hg19 CCDS6988.1 0.02 8.57452 TTCxATT COVERED NOVEL PPP1R26-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054987.1 1 4.509954 KEEP 0 0 0 15 412 AA 0.99649 0.99649 0 + 7 60 253 0 0 15.277163 206 60 7305 230 ENST00000356818.2 0.032864 1 C9orf116 138162 __UNKNOWN__ __UNKNOWN__ 9 138387483 138387483 __UNKNOWN__ Intron SNP G G A rs2274650 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:138387483G>A ENST00000429260.2 - 3 243 C9orf116_ENST00000371789.3_Intron|C9orf116_ENST00000371791.1_Intron NM_001048265.1|NM_144654.2 NP_001041730.1|NP_653255.1 Q5BN46 CI116_HUMAN chromosome 9 open reading frame 116 NA NA NA OV - Ovarian serous cystadenocarcinoma(145;7.39e-08)|Epithelial(140;5.19e-07)|all cancers(34;1.04e-05) AAAGGAACACGGATTAATGAC 0.348 NA G||| 2562 0.511581 0.3638 0.5 5008 , , NA 21406 0.8353 NA 0.4215 False NA ,,, NA NA NA 2504 0.4785 NA NA NA NA 0 G , 1783,2623 517.0+/-369.3 358,1067,778 39 38 39 , -0.4 0 9 dbSNP_100 39 3474,5126 495.9+/-374.2 713,2048,1539 no intron,intron C9orf116 NM_001048265.1,NM_144654.2 , 1071,3115,2317 AA,AG,GG 40.3953,40.4675,40.4198 , , 138387483 5257,7749 2203 4300 6503 SO:0001627 intron_variant BC021261 CCDS6989.1, CCDS43899.1 9q34.3 2012-04-02 ENSG00000160345 ENSG00000160345 138162 28435 protein-coding gene gene with protein product p53-induced expression 1 in Rb−/− cells 614502 NA 12477932 Standard NM_144654 NM_144654 NA Approved MGC29761, RbEST47, PIERCE1 uc004cft.1 Q5BN46 OTTHUMG00000020902 ENST00000429260.2:c.223-22C>T chr9.hg19:g.138387483G>A NA Q5T897|Q8WU44 hg19 CCDS43899.1 0.02 11.86922 CACxGAT COVERED NOVEL C9orf116-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054985.2 0 10.833991 KEEP 0 0 0 36 1209 GG 0.999999 0.999999 0 - 25 60 911 1 0 66.907538 245 60 8715 331 ENST00000429260.2 0.092593 1 C9orf116 138162 __UNKNOWN__ __UNKNOWN__ 9 138391299 138391299 __UNKNOWN__ Intron SNP T T A rs7037251 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:138391299T>A ENST00000429260.2 - 1 164 C9orf116_ENST00000371789.3_Intron|C9orf116_ENST00000371791.1_Intron NM_001048265.1|NM_144654.2 NP_001041730.1|NP_653255.1 Q5BN46 CI116_HUMAN chromosome 9 open reading frame 116 NA NA NA OV - Ovarian serous cystadenocarcinoma(145;7.39e-08)|Epithelial(140;5.19e-07)|all cancers(34;1.04e-05) CCGACACAAATCAGTGGAGCT 0.607 NA A||| 2901 0.579273 0.5734 0.5288 5008 , , NA 17089 0.8343 NA 0.4553 False NA ,,, NA NA NA 2504 0.4877 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC021261 CCDS6989.1, CCDS43899.1 9q34.3 2012-04-02 ENSG00000160345 ENSG00000160345 138162 28435 protein-coding gene gene with protein product p53-induced expression 1 in Rb−/− cells 614502 NA 12477932 Standard NM_144654 NM_144654 NA Approved MGC29761, RbEST47, PIERCE1 uc004cft.1 Q5BN46 OTTHUMG00000020902 ENST00000429260.2:c.143+255A>T chr9.hg19:g.138391299T>A NA Q5T897|Q8WU44 hg19 CCDS43899.1 0.02 8.664323 AAAxCAG COVERED 1292 0.5915750915750916 288 0.5853658536585366 178 0.49171270718232046 478 0.8356643356643356 348 0.45910290237467016 A 2.793 -0.250786 0.05867 . . ENSG00000160345 ENST00000419770 . . . 1.38 -2.76 0.05896 . . . . . . . . . . . 0.58432 P 1.999999999946489E-6 . . . . . . . . . . . . . . 3.2759 0.06898 0.3587:0.0:0.4381:0.2032 rs7037251;rs58096808;rs7037251 . . . C 22 . . X - 3 0 C9orf116 137531120 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -0.249000 0.08842 -1.669000 0.01470 -0.364000 0.07487 TGA NOVEL C9orf116-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054985.2 1 22.948793 KEEP 0 2 67 100 3015 TT 1 1 0 - 25 60 904 0 0 67.609848 213 60 7281 440 ENST00000429260.2 0.105042 1 C9orf116 138162 __UNKNOWN__ __UNKNOWN__ 9 138391517 138391517 __UNKNOWN__ Intron SNP A A C rs2274651 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:138391517A>C ENST00000429260.2 - 1 164 C9orf116_ENST00000371789.3_Intron|C9orf116_ENST00000371791.1_Intron NM_001048265.1|NM_144654.2 NP_001041730.1|NP_653255.1 Q5BN46 CI116_HUMAN chromosome 9 open reading frame 116 NA NA NA OV - Ovarian serous cystadenocarcinoma(145;7.39e-08)|Epithelial(140;5.19e-07)|all cancers(34;1.04e-05) GCTATCGAGCAGTGGACGCCA 0.652 NA A||| 2581 0.515375 0.3684 0.5043 5008 , , NA 13039 0.8333 NA 0.4314 False NA ,,, NA NA NA 2504 0.4806 NA NA NA NA 0 A , 1741,2633 367,1007,813 12 14 13 , -2.2 0 9 dbSNP_100 13 3467,5091 753,1961,1565 no intron,intron C9orf116 NM_001048265.1,NM_144654.2 , 1120,2968,2378 CC,CA,AA 40.5118,39.8034,40.2722 , , 138391517 5208,7724 2187 4279 6466 SO:0001627 intron_variant BC021261 CCDS6989.1, CCDS43899.1 9q34.3 2012-04-02 ENSG00000160345 ENSG00000160345 138162 28435 protein-coding gene gene with protein product p53-induced expression 1 in Rb−/− cells 614502 NA 12477932 Standard NM_144654 NM_144654 NA Approved MGC29761, RbEST47, PIERCE1 uc004cft.1 Q5BN46 OTTHUMG00000020902 ENST00000429260.2:c.143+37T>G chr9.hg19:g.138391517A>C NA Q5T897|Q8WU44 hg19 CCDS43899.1 0.02 5.007761 AGCxGTG COVERED NOVEL C9orf116-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000054985.2 1 23.003885 KEEP 0 1 36 89 2756 AA 1 1 0 - 5 60 199 0 0 13.034084 128 60 4648 278 ENST00000429260.2 0.037594 1 C9orf116 138162 __UNKNOWN__ __UNKNOWN__ 9 138391774 138391774 __UNKNOWN__ 5'UTR SNP C C T rs386739449|rs2274652 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:138391774C>T ENST00000371789.3 - 0 590 C9orf116_ENST00000371791.1_Intron Q5BN46 CI116_HUMAN chromosome 9 open reading frame 116 NA NA NA OV - Ovarian serous cystadenocarcinoma(145;7.39e-08)|Epithelial(140;5.19e-07)|all cancers(34;1.04e-05) GGGGAGCGAGCGGAGGGGCCT 0.716 NA C||| 3526 0.704073 0.8601 0.585 5008 , , NA 13351 0.9018 NA 0.4901 False NA ,,, NA NA NA 2504 0.5941 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant BC021261 CCDS6989.1, CCDS43899.1 9q34.3 2012-04-02 ENSG00000160345 ENSG00000160345 138162 28435 protein-coding gene gene with protein product p53-induced expression 1 in Rb−/− cells 614502 NA 12477932 Standard NM_144654 NM_144654 NA Approved MGC29761, RbEST47, PIERCE1 uc004cft.1 Q5BN46 OTTHUMG00000020902 ENST00000371789.3:c.-77G>A chr9.hg19:g.138391774C>T NA Q5T897|Q8WU44 hg19 CCDS6989.1 0.02 4.638015 GAGxGGA COVERED NOVEL C9orf116-002 KNOWN alternative_5_UTR|basic|CCDS protein_coding NA protein_coding OTTHUMT00000054983.1 0 8.030489 KEEP 0 2 60 48 1584 CC 1 0.999989 0 - 13 60 451 0 0 34.132054 94 60 3112 171 ENST00000371789.3 0.121495 0.999989 MRPS2 51116 __UNKNOWN__ __UNKNOWN__ 9 138391865 138391865 __UNKNOWN__ 5'UTR SNP C C T rs3818596 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:138391865C>T ENST00000371785.1 + 0 36 C9orf116_ENST00000371789.3_5'UTR|C9orf116_ENST00000371791.1_Intron Q9Y399 RT02_HUMAN mitochondrial ribosomal protein S2 NA NA translation (GO:0006412) mitochondrion (GO:0005739)|small ribosomal subunit (GO:0015935) structural constituent of ribosome (GO:0003735) large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1) 6 OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42) CCGGGAAGGTCGGGACGGCGA 0.751 NA C||| 2560 0.511182 0.3517 0.5043 5008 , , NA 12226 0.8343 NA 0.4324 False NA ,,, NA NA NA 2504 0.4796 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AB051627 CCDS6990.1 9q34 2012-09-13 ENSG00000122140 ENSG00000122140 51116 Mitochondrial ribosomal proteins / small subunits 14495 protein-coding gene gene with protein product 611971 NA Standard NM_016034 NA Approved CGI-91 uc004cfv.5 Q9Y399 OTTHUMG00000020910 ENST00000371785.1:c.-174C>T chr9.hg19:g.138391865C>T NA Q5T899|Q9BSQ4 hg19 CCDS6990.1 0.02 2.003606 GGTxGGG COVERED NOVEL MRPS2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000054998.1 0 11.871224 KEEP 0 2 61 61 1987 CC 1 0.998993 0 + 6 60 220 0 0 15.713888 71 60 2389 184 ENST00000371785.1 0.077922 0.998993 KCNT1 57582 __UNKNOWN__ __UNKNOWN__ 9 138606586 138606586 __UNKNOWN__ Intron SNP T T C rs2385007 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:138606586T>C ENST00000371757.2 + 2 321 KCNT1_ENST00000487664.1_Intron|KCNT1_ENST00000298480.5_Intron|KCNT1_ENST00000486577.2_Intron NM_020822.2 NP_065873.2 Q5JUK3 KCNT1_HUMAN potassium channel, subfamily T, member 1 NA NA potassium ion transmembrane transport (GO:0071805) voltage-gated potassium channel complex (GO:0008076) calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249) breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) GGGCGCGGGGTGGGGGCTGGG 0.781 NA t||| 1584 0.316294 0.4289 0.2752 5008 , , NA 3895 0.2718 NA 0.2177 False NA ,,, NA NA NA 2504 0.3405 NA NA NA NA 0 G 533,3239 70,393,1423 3 5 4 -2.7 0 9 4 633,7223 70,493,3365 no intron KCNT1 NM_020822.2 140,886,4788 CC,CT,TT 8.0575,14.1304,10.0275 138606586 1166,10462 1886 3928 5814 SO:0001627 intron_variant AB037843 CCDS35175.1, CCDS35175.2, CCDS65188.1 9q34.3 2012-07-05 ENSG00000107147 ENSG00000107147 57582 Potassium channels, Voltage-gated ion channels / Potassium channels, calcium-activated 18865 protein-coding gene gene with protein product 608167 NA 10718198, 16382103 Standard NM_020822 NM_020822 NA Approved KCa4.1, KIAA1422 uc011mdq.2 Q5JUK3 OTTHUMG00000020917 ENST00000371757.2:c.254+20T>C chr9.hg19:g.138606586T>C NA B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5 hg19 CCDS35175.2 0.02 4.232588 GGGxGGG COVERED NOVEL KCNT1-002 NOVEL basic|appris_candidate_longest|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000055021.2 0 13.474532 KEEP 0 0 0 45 1302 TT 1 1 0 + 6 60 191 0 0 11.217979 136 60 4599 253 ENST00000371757.2 0.042254 1 KCNT1 57582 __UNKNOWN__ __UNKNOWN__ 9 138642912 138642912 __UNKNOWN__ Intron SNP C C A rs10122976 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:138642912C>A ENST00000371757.2 + 4 501 KCNT1_ENST00000487664.1_Intron|KCNT1_ENST00000298480.5_Intron|KCNT1_ENST00000488444.2_Intron|KCNT1_ENST00000263604.3_Intron|KCNT1_ENST00000486577.2_Intron|KCNT1_ENST00000490355.2_Intron|KCNT1_ENST00000491806.2_Intron NM_020822.2 NP_065873.2 Q5JUK3 KCNT1_HUMAN potassium channel, subfamily T, member 1 NA NA potassium ion transmembrane transport (GO:0071805) voltage-gated potassium channel complex (GO:0008076) calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249) breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) CGGCCGGGCGCGGGGTCCCGG 0.697 NA A||| 2724 0.54393 0.6127 0.4323 5008 , , NA 14243 0.5119 NA 0.4563 False NA ,,, NA NA NA 2504 0.6534 NA NA NA NA 0 A 2516,1884 727,1062,411 32 30 31 -2.2 0 9 dbSNP_119 31 3880,4710 904,2072,1319 no intron KCNT1 NM_020822.2 1631,3134,1730 AA,AC,CC 45.1688,42.8182,49.2379 138642912 6396,6594 2200 4295 6495 SO:0001627 intron_variant AB037843 CCDS35175.1, CCDS35175.2, CCDS65188.1 9q34.3 2012-07-05 ENSG00000107147 ENSG00000107147 57582 Potassium channels, Voltage-gated ion channels / Potassium channels, calcium-activated 18865 protein-coding gene gene with protein product 608167 NA 10718198, 16382103 Standard NM_020822 NM_020822 NA Approved KCa4.1, KIAA1422 uc011mdq.2 Q5JUK3 OTTHUMG00000020917 ENST00000371757.2:c.434+25C>A chr9.hg19:g.138642912C>A NA B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5 hg19 CCDS35175.2 0.02 2.318703 GCGxGGG COVERED NOVEL KCNT1-002 NOVEL basic|appris_candidate_longest|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000055021.2 1 8.123548 KEEP 0 0 0 27 851 CC 0.999988 0.99369 0 + 5 60 186 0 0 13.337976 60 60 1970 109 ENST00000371757.2 0.076923 0.993703 KCNT1 57582 __UNKNOWN__ __UNKNOWN__ 9 138644203 138644203 __UNKNOWN__ Intron SNP T T C rs10735239 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:138644203T>C ENST00000371757.2 + 4 501 KCNT1_ENST00000487664.1_Intron|KCNT1_ENST00000298480.5_Intron|KCNT1_ENST00000488444.2_Intron|KCNT1_ENST00000263604.3_Intron|KCNT1_ENST00000486577.2_Intron|KCNT1_ENST00000490355.2_Intron|KCNT1_ENST00000491806.2_Intron NM_020822.2 NP_065873.2 Q5JUK3 KCNT1_HUMAN potassium channel, subfamily T, member 1 NA NA potassium ion transmembrane transport (GO:0071805) voltage-gated potassium channel complex (GO:0008076) calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249) breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) ctcctaagaatgaacctcctg 0.527 NA C||| 2639 0.526957 0.5522 0.4222 5008 , , NA 20540 0.5129 NA 0.4563 False NA ,,, NA NA NA 2504 0.6544 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB037843 CCDS35175.1, CCDS35175.2, CCDS65188.1 9q34.3 2012-07-05 ENSG00000107147 ENSG00000107147 57582 Potassium channels, Voltage-gated ion channels / Potassium channels, calcium-activated 18865 protein-coding gene gene with protein product 608167 NA 10718198, 16382103 Standard NM_020822 NM_020822 NA Approved KCa4.1, KIAA1422 uc011mdq.2 Q5JUK3 OTTHUMG00000020917 ENST00000371757.2:c.434+1316T>C chr9.hg19:g.138644203T>C NA B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5 hg19 CCDS35175.2 0.02 11.675645 GAAxGAA COVERED NOVEL KCNT1-002 NOVEL basic|appris_candidate_longest|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000055021.2 2 17.752535 KEEP 0 0 0 59 1844 TT 1 1 0 + 11 60 375 0 0 21.724009 326 60 11979 501 ENST00000371757.2 0.032641 1 KCNT1 57582 __UNKNOWN__ __UNKNOWN__ 9 138651473 138651473 __UNKNOWN__ Intron SNP C C T rs372023291 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:138651473C>T ENST00000371757.2 + 11 921 KCNT1_ENST00000487664.1_Intron|KCNT1_ENST00000298480.5_Intron|KCNT1_ENST00000488444.2_Intron|KCNT1_ENST00000263604.3_Intron|KCNT1_ENST00000486577.2_Intron|KCNT1_ENST00000490355.2_Intron|KCNT1_ENST00000491806.2_Intron NM_020822.2 NP_065873.2 Q5JUK3 KCNT1_HUMAN potassium channel, subfamily T, member 1 NA NA potassium ion transmembrane transport (GO:0071805) voltage-gated potassium channel complex (GO:0008076) calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249) breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) TGAGGGGCCACGGCCCCCCAG 0.721 NA C||| 4 0.000798722 0.0 0.0 5008 , , NA 13677 0.003 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 13 14 14 NA NA 9 NA 138651473 863 1987 2850 SO:0001627 intron_variant AB037843 CCDS35175.1, CCDS35175.2, CCDS65188.1 9q34.3 2012-07-05 ENSG00000107147 ENSG00000107147 57582 Potassium channels, Voltage-gated ion channels / Potassium channels, calcium-activated 18865 protein-coding gene gene with protein product 608167 NA 10718198, 16382103 Standard NM_020822 NM_020822 NA Approved KCa4.1, KIAA1422 uc011mdq.2 Q5JUK3 OTTHUMG00000020917 ENST00000371757.2:c.855-52C>T chr9.hg19:g.138651473C>T NA B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5 hg19 CCDS35175.2 0.02 4.083137 CCAxGGC COVERED NOVEL KCNT1-002 NOVEL basic|appris_candidate_longest|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000055021.2 0 6.621168 KEEP 0 0 0 22 752 CC 0.999879 0.999879 0 + 11 60 397 0 0 28.362051 125 60 4526 175 ENST00000371757.2 0.080882 1 CAMSAP1 157922 __UNKNOWN__ __UNKNOWN__ 9 138711046 138711046 __UNKNOWN__ Intron SNP A A T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:138711046A>T ENST00000389532.4 - 12 3887 CAMSAP1_ENST00000409386.3_Intron|CAMSAP1_ENST00000483991.1_Intron|CAMSAP1_ENST00000312405.6_Intron NM_015447.3 NP_056262.3 Q5T5Y3 CAMP1_HUMAN calmodulin regulated spectrin-associated protein 1 NA NA cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604) cytoplasm (GO:0005737)|microtubule (GO:0005874) calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507) breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1) 47 OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05) GACGCCGGACACGGCCGCACT 0.522 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ519841 CCDS35176.2 9q34.3 2008-02-05 ENSG00000130559 ENSG00000130559 157922 19946 protein-coding gene gene with protein product 613774 NA 12477932 Standard XM_351857 NM_015447 NA Approved FLJ31228, DKFZp434F195 uc004cgr.4 Q5T5Y3 OTTHUMG00000020918 ENST00000389532.4:c.3823-54T>A chr9.hg19:g.138711046A>T NA A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5 hg19 CCDS35176.2 0.02 21.064993 GACxCGG COVERED NOVEL CAMSAP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055024.2 2 41.603257 KEEP 0 1 7 141 4210 AA 1 1 0 - 20 60 738 0 0 47.044084 473 60 16592 828 ENST00000389532.4 0.040568 1 NACC2 138151 __UNKNOWN__ __UNKNOWN__ 9 138899630 138899630 __UNKNOWN__ 3'UTR SNP A A G rs10776867 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:138899630A>G ENST00000371753.1 - 0 5554 Q96BF6 NACC2_HUMAN NACC family member 2, BEN and BTB (POZ) domain containing NA NA cellular protein complex localization (GO:0034629)|histone deacetylation (GO:0016575)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle by negative regulation of transcription from RNA polymerase II promoter (GO:1900477)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|posttranscriptional regulation of gene expression (GO:0010608)|protein homooligomerization (GO:0051260)|transcription from RNA polymerase II promoter (GO:0006366) nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634) histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076) endometrium(2)|kidney(1)|lung(1)|urinary_tract(1) 5 AGATGTTTCCATAAAAATTTC 0.537 NA a||| 3958 0.790335 0.8359 0.7853 5008 , , NA 17270 0.744 NA 0.8241 False NA ,,, NA NA NA 2504 0.7454 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC015649 CCDS6993.1 9q34.3 2013-01-09 2008-10-03 2008-10-03 ENSG00000148411 ENSG00000148411 138151 BEN domain containing, BTB/POZ domain containing 23846 protein-coding gene gene with protein product BEN domain containing 9 615786 BTB (POZ) domain containing 14A BTBD14A NA 12477932 Standard NM_144653 NM_144653 NA Approved MGC23427, BEND9, BTBD31 uc004cgv.4 Q96BF6 OTTHUMG00000020921 ENST00000371753.1:c.*3732T>C chr9.hg19:g.138899630A>G NA hg19 CCDS6993.1 0.02 8.879717 TCCxTAA COVERED NOVEL NACC2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055040.1 2 8.194192 KEEP 0 2 68 51 1593 AA 1 1 0 - 15 60 519 0 0 35.872641 187 60 6891 311 ENST00000371753.1 0.074257 1 NACC2 138151 __UNKNOWN__ __UNKNOWN__ 9 138902775 138902775 __UNKNOWN__ 3'UTR SNP T T C rs11103272 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:138902775T>C ENST00000371753.1 - 0 2409 Q96BF6 NACC2_HUMAN NACC family member 2, BEN and BTB (POZ) domain containing NA NA cellular protein complex localization (GO:0034629)|histone deacetylation (GO:0016575)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle by negative regulation of transcription from RNA polymerase II promoter (GO:1900477)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|posttranscriptional regulation of gene expression (GO:0010608)|protein homooligomerization (GO:0051260)|transcription from RNA polymerase II promoter (GO:0006366) nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634) histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076) endometrium(2)|kidney(1)|lung(1)|urinary_tract(1) 5 ACCACACCCCTGcacacacac 0.622 NA T||| 1131 0.225839 0.0719 0.2608 5008 , , NA 16228 0.3224 NA 0.3211 False NA ,,, NA NA NA 2504 0.2117 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC015649 CCDS6993.1 9q34.3 2013-01-09 2008-10-03 2008-10-03 ENSG00000148411 ENSG00000148411 138151 BEN domain containing, BTB/POZ domain containing 23846 protein-coding gene gene with protein product BEN domain containing 9 615786 BTB (POZ) domain containing 14A BTBD14A NA 12477932 Standard NM_144653 NM_144653 NA Approved MGC23427, BEND9, BTBD31 uc004cgv.4 Q96BF6 OTTHUMG00000020921 ENST00000371753.1:c.*587A>G chr9.hg19:g.138902775T>C NA hg19 CCDS6993.1 0.02 4.739888 CCCxGCA COVERED NOVEL NACC2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055040.1 4 19.85413 KEEP 0 0 0 66 2013 TT 1 0.999998 0 - 9 60 313 0 0 21.785836 109 60 4007 233 ENST00000371753.1 0.076271 0.999998 NACC2 138151 __UNKNOWN__ __UNKNOWN__ 9 138903671 138903671 __UNKNOWN__ Silent SNP A A G rs9626|rs386739528 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:138903671A>G ENST00000371753.1 - 5 1513 c.1455T>C c.(1453-1455)ccT>ccC p.P485P NACC2_ENST00000277554.2_Silent_p.P485P Q96BF6 NACC2_HUMAN NACC family member 2, BEN and BTB (POZ) domain containing 485 NA cellular protein complex localization (GO:0034629)|histone deacetylation (GO:0016575)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle by negative regulation of transcription from RNA polymerase II promoter (GO:1900477)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|posttranscriptional regulation of gene expression (GO:0010608)|protein homooligomerization (GO:0051260)|transcription from RNA polymerase II promoter (GO:0006366) nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634) histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076) endometrium(2)|kidney(1)|lung(1)|urinary_tract(1) 5 GTGCCGCGGCAGGCGGGAACT 0.677 NA A||| 3440 0.686901 0.7905 0.6902 5008 , , NA 12310 0.5694 NA 0.6968 False NA ,,, NA NA NA 2504 0.6554 NA NA NA NA 0 A 3309,991 1298,713,139 8 8 8 1455 -1.2 0.1 9 dbSNP_52 8 5996,2320 2212,1572,374 no coding-synonymous NACC2 NM_144653.4 3510,2285,513 GG,GA,AA 27.898,23.0465,26.2445 485/588 138903671 9305,3311 2150 4158 6308 SO:0001819 synonymous_variant BC015649 CCDS6993.1 9q34.3 2013-01-09 2008-10-03 2008-10-03 ENSG00000148411 ENSG00000148411 138151 BEN domain containing, BTB/POZ domain containing 23846 protein-coding gene gene with protein product BEN domain containing 9 615786 BTB (POZ) domain containing 14A BTBD14A NA 12477932 Standard NM_144653 NM_144653 NA Approved MGC23427, BEND9, BTBD31 uc004cgv.4 Q96BF6 OTTHUMG00000020921 ENST00000371753.1:c.1455T>C chr9.hg19:g.138903671A>G NA hg19 CCDS6993.1 0.02 19.261201 GGCxGGC COVERED NOVEL NACC2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055040.1 1 86.426386 KEEP 0 5 189 353 10798 AA 1 1 0 - 33 60 1153 0 0 81.076085 382 60 13750 953 ENST00000371753.1 0.079518 1 NACC2 138151 __UNKNOWN__ __UNKNOWN__ 9 138904997 138904997 __UNKNOWN__ Intron SNP T T C rs2280485 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:138904997T>C ENST00000371753.1 - 4 1314 NACC2_ENST00000277554.2_Intron Q96BF6 NACC2_HUMAN NACC family member 2, BEN and BTB (POZ) domain containing NA NA cellular protein complex localization (GO:0034629)|histone deacetylation (GO:0016575)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle by negative regulation of transcription from RNA polymerase II promoter (GO:1900477)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|posttranscriptional regulation of gene expression (GO:0010608)|protein homooligomerization (GO:0051260)|transcription from RNA polymerase II promoter (GO:0006366) nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634) histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076) endometrium(2)|kidney(1)|lung(1)|urinary_tract(1) 5 GGCTGGGATCTGAACCCAGCC 0.687 NA C||| 2595 0.518171 0.7405 0.4856 5008 , , NA 8165 0.4514 NA 0.4324 False NA ,,, NA NA NA 2504 0.3978 NA NA NA NA 0 C 2504,1324 792,920,202 8 12 11 -1.3 0 9 dbSNP_100 11 3477,4615 761,1955,1330 no intron NACC2 NM_144653.4 1553,2875,1532 CC,CT,TT 42.9684,34.5873,49.8238 138904997 5981,5939 1914 4046 5960 SO:0001627 intron_variant BC015649 CCDS6993.1 9q34.3 2013-01-09 2008-10-03 2008-10-03 ENSG00000148411 ENSG00000148411 138151 BEN domain containing, BTB/POZ domain containing 23846 protein-coding gene gene with protein product BEN domain containing 9 615786 BTB (POZ) domain containing 14A BTBD14A NA 12477932 Standard NM_144653 NM_144653 NA Approved MGC23427, BEND9, BTBD31 uc004cgv.4 Q96BF6 OTTHUMG00000020921 ENST00000371753.1:c.1255+47A>G chr9.hg19:g.138904997T>C NA hg19 CCDS6993.1 0.02 1.932537 ATCxGAA COVERED NOVEL NACC2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055040.1 0 10.830374 KEEP 0 3 82 65 1970 TT 1 0.967425 0 - 4 60 126 0 0 8.424619 47 60 1675 163 ENST00000371753.1 0.078431 0.967425 NACC2 138151 __UNKNOWN__ __UNKNOWN__ 9 138905136 138905136 __UNKNOWN__ Silent SNP C C T rs2280486 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:138905136C>T ENST00000371753.1 - 4 1222 c.1164G>A c.(1162-1164)acG>acA p.T388T NACC2_ENST00000277554.2_Silent_p.T388T Q96BF6 NACC2_HUMAN NACC family member 2, BEN and BTB (POZ) domain containing 388 BEN. {ECO:0000255|PROSITE- ProRule:PRU00784}. NA cellular protein complex localization (GO:0034629)|histone deacetylation (GO:0016575)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle by negative regulation of transcription from RNA polymerase II promoter (GO:1900477)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|posttranscriptional regulation of gene expression (GO:0010608)|protein homooligomerization (GO:0051260)|transcription from RNA polymerase II promoter (GO:0006366) nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634) histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076) endometrium(2)|kidney(1)|lung(1)|urinary_tract(1) 5 TGTTGGCCAGCGTGTTCCTGG 0.672 NA C||| 2325 0.464257 0.5469 0.4741 5008 , , NA 11939 0.4494 NA 0.4284 False NA ,,, NA NA NA 2504 0.3978 NA NA NA NA 0 C 2254,2150 576.4+/-384.2 586,1082,534 43 47 46 1164 -9.9 0.6 9 dbSNP_100 46 3615,4977 512.0+/-377.8 765,2085,1446 no coding-synonymous NACC2 NM_144653.4 1351,3167,1980 TT,TC,CC 42.074,48.8193,45.16 388/588 138905136 5869,7127 2202 4296 6498 SO:0001819 synonymous_variant BC015649 CCDS6993.1 9q34.3 2013-01-09 2008-10-03 2008-10-03 ENSG00000148411 ENSG00000148411 138151 BEN domain containing, BTB/POZ domain containing 23846 protein-coding gene gene with protein product BEN domain containing 9 615786 BTB (POZ) domain containing 14A BTBD14A NA 12477932 Standard NM_144653 NM_144653 NA Approved MGC23427, BEND9, BTBD31 uc004cgv.4 Q96BF6 OTTHUMG00000020921 ENST00000371753.1:c.1164G>A chr9.hg19:g.138905136C>T NA hg19 CCDS6993.1 0.02 2.100015 CAGxGTG COVERED NOVEL NACC2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055040.1 0 20.661601 KEEP 0 1 32 80 2576 CC 1 0.995084 0 - 6 60 213 0 0 15.392748 61 60 2058 211 ENST00000371753.1 0.089552 0.995084 NACC2 138151 __UNKNOWN__ __UNKNOWN__ 9 138927396 138927396 __UNKNOWN__ Intron SNP A A G rs10116108 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:138927396A>G ENST00000371753.1 - 1 945 NACC2_ENST00000277554.2_Intron Q96BF6 NACC2_HUMAN NACC family member 2, BEN and BTB (POZ) domain containing NA NA cellular protein complex localization (GO:0034629)|histone deacetylation (GO:0016575)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle by negative regulation of transcription from RNA polymerase II promoter (GO:1900477)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|posttranscriptional regulation of gene expression (GO:0010608)|protein homooligomerization (GO:0051260)|transcription from RNA polymerase II promoter (GO:0006366) nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634) histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076) endometrium(2)|kidney(1)|lung(1)|urinary_tract(1) 5 gtgattctggattaaatacca 0.363 NA A||| 1511 0.301717 0.2247 0.2608 5008 , , NA 14635 0.4623 NA 0.3042 False NA ,,, NA NA NA 2504 0.2669 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC015649 CCDS6993.1 9q34.3 2013-01-09 2008-10-03 2008-10-03 ENSG00000148411 ENSG00000148411 138151 BEN domain containing, BTB/POZ domain containing 23846 protein-coding gene gene with protein product BEN domain containing 9 615786 BTB (POZ) domain containing 14A BTBD14A NA 12477932 Standard NM_144653 NM_144653 NA Approved MGC23427, BEND9, BTBD31 uc004cgv.4 Q96BF6 OTTHUMG00000020921 ENST00000371753.1:c.886+14085T>C chr9.hg19:g.138927396A>G NA hg19 CCDS6993.1 0.02 6.505422 TGGxTTA COVERED NOVEL NACC2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055040.1 1 9.328551 KEEP 9 0 0 31 999 AA 0.999997 0.999997 0 - 9 49 336 0 0 22.185293 180 50 6404 252 ENST00000371753.1 0.047619 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 139221567 139221567 __UNKNOWN__ IGR SNP C C A rs72775735 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:139221567C>A NA NA DKFZP434A062 (1927 upstream) : GPSM1 (364 downstream) NA NA NA GAGGGTAGGACCCCCGAGGCG 0.677 NA C||| 666 0.132987 0.2315 0.2233 5008 , , NA 11379 0.0139 NA 0.0477 False NA ,,, NA NA NA 2504 0.1462 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.139221567C>A NA hg19 0.02 5.49091 GGAxCCC COVERED NOVEL 0 1 23.41062 KEEP 0 0 0 78 2601 CC 1 1 0 7 60 229 0 0 13.228137 184 60 6707 310 0.036649 1 DNLZ 728489 __UNKNOWN__ __UNKNOWN__ 9 139254438 139254438 __UNKNOWN__ 3'UTR SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:139254438G>A ENST00000371739.3 - 0 2427 Q5SXM8 DNLZ_HUMAN DNL-type zinc finger NA NA mitochondrion (GO:0005739) zinc ion binding (GO:0008270) central_nervous_system(1)|prostate(1) 2 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.42e-06)|Epithelial(140;3.3e-06) TGATCCGGCTGGGCTCAGGGT 0.692 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL592301 CCDS35179.1 9q34.3 2013-01-10 2007-12-18 2007-12-18 ENSG00000213221 ENSG00000213221 728489 Zinc fingers 33879 protein-coding gene gene with protein product translocase of inner mitochondrial membrane 15 homolog (yeast), HSP70 escort protein chromosome 9 open reading frame 151 C9orf151 NA 21530495, 22162012 Standard NM_001080849 NM_001080849 NA Approved RP11-413M3.2, ZIM17, bA413M3.2, TIMM15, HEP uc004chf.2 Q5SXM8 OTTHUMG00000020931 ENST00000371739.3:c.*2069C>T chr9.hg19:g.139254438G>A NA B2RUX5|B9EJE1 hg19 0.02 6.358975 GCTxGGC COVERED NOVEL DNLZ-002 NOVEL not_organism_supported|basic protein_coding NA protein_coding OTTHUMT00000055076.1 0 22.873921 KEEP 0 0 0 76 2681 GG 1 1 0 - 9 60 303 0 0 19.145194 174 60 6389 328 ENST00000371739.3 0.04918 1 DNLZ 728489 __UNKNOWN__ __UNKNOWN__ 9 139255906 139255906 __UNKNOWN__ 3'UTR SNP G G A rs541052001 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:139255906G>A ENST00000371739.3 - 0 959 Q5SXM8 DNLZ_HUMAN DNL-type zinc finger NA NA mitochondrion (GO:0005739) zinc ion binding (GO:0008270) central_nervous_system(1)|prostate(1) 2 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.42e-06)|Epithelial(140;3.3e-06) TGGCTCCCCCGGGAGGGGTCT 0.682 NA g||| 5 0.000998403 0.0038 0.0 5008 , , NA 16499 0.0 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL592301 CCDS35179.1 9q34.3 2013-01-10 2007-12-18 2007-12-18 ENSG00000213221 ENSG00000213221 728489 Zinc fingers 33879 protein-coding gene gene with protein product translocase of inner mitochondrial membrane 15 homolog (yeast), HSP70 escort protein chromosome 9 open reading frame 151 C9orf151 NA 21530495, 22162012 Standard NM_001080849 NM_001080849 NA Approved RP11-413M3.2, ZIM17, bA413M3.2, TIMM15, HEP uc004chf.2 Q5SXM8 OTTHUMG00000020931 ENST00000371739.3:c.*601C>T chr9.hg19:g.139255906G>A NA B2RUX5|B9EJE1 hg19 0.02 13.734837 CCCxGGA COVERED NOVEL DNLZ-002 NOVEL not_organism_supported|basic protein_coding NA protein_coding OTTHUMT00000055076.1 2 37.00646 KEEP 0 0 0 123 4151 GG 1 1 0 - 20 60 747 0 0 51.193438 321 60 11276 556 ENST00000371739.3 0.058651 1 CARD9 64170 __UNKNOWN__ __UNKNOWN__ 9 139266405 139266405 __UNKNOWN__ Silent SNP G G A rs10781499 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:139266405G>A ENST00000371732.5 - 2 291 c.126C>T c.(124-126)ccC>ccT p.P42P CARD9_ENST00000315908.7_Silent_p.P42P|CARD9_ENST00000371734.3_Silent_p.P42P NM_052813.4 NP_434700.2 Q9H257 CARD9_HUMAN caspase recruitment domain family, member 9 42 CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}. NA defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of apoptotic process (GO:0042981)|regulation of interleukin-2 biosynthetic process (GO:0045076)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of tumor necrosis factor biosynthetic process (GO:0042534)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to fungus (GO:0009620)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494) cytoplasm (GO:0005737) CARD domain binding (GO:0050700)|protein homodimerization activity (GO:0042803) endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1) 15 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06) CCTCATCATCGGGGTTCAGGA 0.642 NA G||| 1834 0.366214 0.2504 0.572 5008 , , NA 17535 0.3185 NA 0.3976 False NA ,,, NA NA NA 2504 0.3937 NA NA NA NA 0 G , 1227,3179 424.7+/-340.5 166,895,1142 171 150 157 http://www.ncbi.nlm.nih.gov/pubmed?term 126,126 -2.2 0.8 9 dbSNP_120 157 3641,4959 523.9+/-380.4 767,2107,1426 yes coding-synonymous,coding-synonymous CARD9 NM_052813.4,NM_052814.3 , 933,3002,2568 AA,AG,GG http://www.ncbi.nlm.nih.gov/pubmed?term 42.3372,27.8484,37.4289 , 42/537,42/493 139266405 4868,8138 2203 4300 6503 SO:0001819 synonymous_variant AF311287 CCDS6997.1, CCDS48057.1 9q34 2014-09-17 ENSG00000187796 ENSG00000187796 64170 16391 protein-coding gene gene with protein product 607212 NA 11053425 Standard NM_052813 NM_052813 NA Approved uc004chg.3 Q9H257 OTTHUMG00000020925 ENST00000371732.5:c.126C>T chr9.hg19:g.139266405G>A NA Q5SXM5|Q5SXM6|Q9H854 hg19 CCDS6997.1 0.02 11.706726 ATCxGGG COVERED NOVEL CARD9-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055053.1 3 17.625009 KEEP 0 2 61 80 2745 GG 1 1 0 - 9 60 344 0 0 21.642568 256 60 8980 434 ENST00000371732.5 0.033962 1 CARD9 64170 __UNKNOWN__ __UNKNOWN__ 9 139266496 139266496 __UNKNOWN__ Missense_Mutation SNP C C T rs4077515 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:139266496C>T ENST00000371732.5 - 2 200 c.35G>A c.(34-36)aGc>aAc p.S12N CARD9_ENST00000315908.7_Missense_Mutation_p.S12N|CARD9_ENST00000371734.3_Missense_Mutation_p.S12N NM_052813.4 NP_434700.2 Q9H257 CARD9_HUMAN caspase recruitment domain family, member 9 12 CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}. NA S -> N (in dbSNP:rs4077515). {ECO:0000269|PubMed:11053425, ECO:0000269|PubMed:14702039}. defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of apoptotic process (GO:0042981)|regulation of interleukin-2 biosynthetic process (GO:0045076)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of tumor necrosis factor biosynthetic process (GO:0042534)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to fungus (GO:0009620)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494) cytoplasm (GO:0005737) CARD domain binding (GO:0050700)|protein homodimerization activity (GO:0042803) endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1) 15 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06) CTCCAGGACGCTCCAGCACTC 0.647 NA C||| 1836 0.366613 0.2519 0.5706 5008 , , NA 18895 0.3214 NA 0.3966 False NA ,,, NA NA NA 2504 0.3926 NA NA NA NA 0 C ASN/SER,ASN/SER 1227,3179 422.3+/-339.7 165,897,1141 116 80 92 http://www.ncbi.nlm.nih.gov/pubmed?term 35,35 -0.6 0.1 9 dbSNP_108 92 3625,4975 521.0+/-379.8 760,2105,1435 yes missense,missense CARD9 NM_052813.4,NM_052814.3 46,46 925,3002,2576 TT,TC,CC http://www.ncbi.nlm.nih.gov/pubmed?term 42.1512,27.8484,37.3059 benign,benign 12/537,12/493 139266496 4852,8154 2203 4300 6503 SO:0001583 missense AF311287 CCDS6997.1, CCDS48057.1 9q34 2014-09-17 ENSG00000187796 ENSG00000187796 64170 16391 protein-coding gene gene with protein product 607212 NA 11053425 Standard NM_052813 NM_052813 NA Approved uc004chg.3 Q9H257 OTTHUMG00000020925 ENST00000371732.5:c.35G>A chr9.hg19:g.139266496C>T ENSP00000360797:p.Ser12Asn NA Q5SXM5|Q5SXM6|Q9H854 hg19 CCDS6997.1 0.02 7.99859 ACGxTCC COVERED 803 0.3676739926739927 144 0.2926829268292683 170 0.4696132596685083 177 0.3094405594405594 312 0.41160949868073876 C 6.546 0.468978 0.12461 0.278484 0.421512 ENSG00000187796 ENST00000371734;ENST00000371732;ENST00000315908 T;T;T 0.20463 2.07;2.07;2.07 4.88 -0.553 0.11815 DEATH-like (2);Caspase Recruitment (2); 0.565475 0.18338 N 0.144278 T 0.00012 0.0000 N 0.03115 -0.41 0.54753 P 1.399999999995849E-5 B;B;B 0.09022 0.002;0.002;0.002 B;B;B 0.08055 0.002;0.003;0.003 T 0.46400 -0.9194 9 0.27082 T 0.32 -14.5962 4.5111 0.11912 0.0:0.2509:0.3177:0.4314 rs4077515;rs60359505;rs4077515 12;12;12 Q9H257-2;Q5SXM5;Q9H257 .;.;CARD9_HUMAN N 12 ENSP00000360799:S12N;ENSP00000360797:S12N;ENSP00000323719:S12N ENSP00000323719:S12N S - 2 0 CARD9 138386317 0.005000 0.15991 0.100000 0.21137 0.252000 0.25951 -0.134000 0.10436 0.013000 0.14918 -0.326000 0.08463 AGC NOVEL CARD9-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055053.1 1 10.241491 KEEP 0 2 65 57 2041 CC 1 1 0 - 9 60 318 1 0 19.731381 214 60 8080 343 ENST00000371732.5 0.040359 1 SNAPC4 6621 __UNKNOWN__ __UNKNOWN__ 9 139273288 139273288 __UNKNOWN__ Silent SNP C C T rs3829112 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:139273288C>T ENST00000298532.2 - 21 3359 c.2991G>A c.(2989-2991)gaG>gaA p.E997E NM_003086.2 NP_003077.2 small nuclear RNA activating complex, polypeptide 4, 190kDa NA NA biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 33 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) GGGCTGTGCCCTCGGCCTCTG 0.667 NA C||| 945 0.188698 0.0893 0.2594 5008 , , NA 10947 0.2738 NA 0.161 False NA ,,, NA NA NA 2504 0.2137 NA NA NA NA 0 C 382,4000 17,348,1826 15 18 17 2991 1.9 0 9 dbSNP_107 17 1323,7263 102,1119,3072 no coding-synonymous SNAPC4 NM_003086.2 119,1467,4898 TT,TC,CC 15.4088,8.7175,13.1477 997/1470 139273288 1705,11263 2191 4293 6484 SO:0001819 synonymous_variant AF032387 CCDS6998.1 9q34.3 2008-07-21 2002-08-29 ENSG00000165684 ENSG00000165684 6621 11137 protein-coding gene gene with protein product 602777 small nuclear RNA activating complex, polypeptide 4, 190kD NA 9418884 Standard NM_003086 XM_005266096 NA Approved SNAP190, PTFalpha, FLJ13451 uc004chh.3 Q5SXM2 OTTHUMG00000020929 ENST00000298532.2:c.2991G>A chr9.hg19:g.139273288C>T NA hg19 CCDS6998.1 0.02 4.088431 GCCxTCG COVERED NOVEL SNAPC4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055071.1 1 6.921326 KEEP 0 0 0 23 792 CC 0.999892 0.999891 0 - 9 60 323 0 0 22.583553 115 60 4305 184 ENST00000298532.2 0.072581 0.999999 SNAPC4 6621 __UNKNOWN__ __UNKNOWN__ 9 139273402 139273402 __UNKNOWN__ Silent SNP C C T rs3812567 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:139273402C>T ENST00000298532.2 - 21 3245 c.2877G>A c.(2875-2877)gcG>gcA p.A959A NM_003086.2 NP_003077.2 small nuclear RNA activating complex, polypeptide 4, 190kDa NA NA biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 33 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) GTTTGGCTGCCGCGGGGGCCC 0.662 NA T||| 3910 0.780751 0.9856 0.6455 5008 , , NA 11872 0.8452 NA 0.6909 False NA ,,, NA NA NA 2504 0.6258 NA NA NA NA 0 T 4127,257 1947,233,12 16 19 18 2877 -2 0 9 dbSNP_107 18 5890,2690 2015,1860,415 no coding-synonymous SNAPC4 NM_003086.2 3962,2093,427 TT,TC,CC 31.352,5.8622,22.7322 959/1470 139273402 10017,2947 2192 4290 6482 SO:0001819 synonymous_variant AF032387 CCDS6998.1 9q34.3 2008-07-21 2002-08-29 ENSG00000165684 ENSG00000165684 6621 11137 protein-coding gene gene with protein product 602777 small nuclear RNA activating complex, polypeptide 4, 190kD NA 9418884 Standard NM_003086 XM_005266096 NA Approved SNAP190, PTFalpha, FLJ13451 uc004chh.3 Q5SXM2 OTTHUMG00000020929 ENST00000298532.2:c.2877G>A chr9.hg19:g.139273402C>T NA hg19 CCDS6998.1 0.02 4.620395 TGCxGCG COVERED NOVEL SNAPC4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055071.1 1 7.196617 KEEP 0 0 0 24 789 CC 0.999909 0.999909 0 - 17 60 645 0 0 49.966161 126 60 4349 185 ENST00000298532.2 0.118881 1 SNAPC4 6621 __UNKNOWN__ __UNKNOWN__ 9 139275294 139275294 __UNKNOWN__ Missense_Mutation SNP G G C rs3812571 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:139275294G>C ENST00000298532.2 - 19 2765 c.2397C>G c.(2395-2397)caC>caG p.H799Q NM_003086.2 NP_003077.2 small nuclear RNA activating complex, polypeptide 4, 190kDa NA NA biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 33 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) CAGTATCGATGTGGAACAGCT 0.637 NA C||| 2034 0.40615 0.3631 0.6066 5008 , , NA 19093 0.3224 NA 0.4155 False NA ,,, NA NA NA 2504 0.3988 NA NA NA NA 0 C GLN/HIS 1604,2798 656.1+/-400.0 287,1030,884 49 45 47 2397 4.2 1 9 dbSNP_107 47 3805,4791 609.2+/-395.5 844,2117,1337 yes missense SNAPC4 NM_003086.2 24 1131,3147,2221 CC,CG,GG 44.2648,36.438,41.6141 benign 799/1470 139275294 5409,7589 2201 4298 6499 SO:0001583 missense AF032387 CCDS6998.1 9q34.3 2008-07-21 2002-08-29 ENSG00000165684 ENSG00000165684 6621 11137 protein-coding gene gene with protein product 602777 small nuclear RNA activating complex, polypeptide 4, 190kD NA 9418884 Standard NM_003086 XM_005266096 NA Approved SNAP190, PTFalpha, FLJ13451 uc004chh.3 Q5SXM2 OTTHUMG00000020929 ENST00000298532.2:c.2397C>G chr9.hg19:g.139275294G>C ENSP00000298532:p.His799Gln NA hg19 CCDS6998.1 0.02 13.727518 GATxTGG COVERED 870 0.3983516483516483 184 0.37398373983739835 190 0.5248618784530387 177 0.3094405594405594 319 0.420844327176781 C 0.022 -1.406691 0.01155 0.36438 0.442648 ENSG00000165684 ENST00000298532 T 0.24538 1.85 4.15 4.15 0.48705 . 0.206990 0.35708 N 0.003030 T 0.00012 0.0000 N 0.00260 -1.75 0.58432 P 2.9999999999752447E-6 B 0.02656 0.0 B 0.01281 0.0 T 0.47142 -0.9140 9 0.02654 T 1 -18.3209 11.0145 0.47681 0.0:0.634:0.366:0.0 rs3812571;rs13298729;rs17602983;rs3812571 799 Q5SXM2 SNPC4_HUMAN Q 799 ENSP00000298532:H799Q ENSP00000298532:H799Q H - 3 2 SNAPC4 138395115 0.967000 0.33354 0.979000 0.43373 0.337000 0.28794 0.133000 0.15912 0.877000 0.35895 -0.120000 0.15030 CAC NOVEL SNAPC4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055071.1 0 9.903083 KEEP 0 2 66 56 2015 GG 1 1 0 - 9 60 345 0 0 21.015561 309 60 11743 482 ENST00000298532.2 0.028302 1 SNAPC4 6621 __UNKNOWN__ __UNKNOWN__ 9 139287053 139287053 __UNKNOWN__ Intron SNP G G A rs568903927 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:139287053G>A ENST00000298532.2 - 8 1106 NM_003086.2 NP_003077.2 small nuclear RNA activating complex, polypeptide 4, 190kDa NA NA biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 33 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) CTGGCTGGTGGAAGGGATGAG 0.597 NA G||| 1 0.000199681 0.0 0.0 5008 , , NA 18417 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 99 101 100 NA NA 9 NA 139287053 2203 4300 6503 SO:0001627 intron_variant AF032387 CCDS6998.1 9q34.3 2008-07-21 2002-08-29 ENSG00000165684 ENSG00000165684 6621 11137 protein-coding gene gene with protein product 602777 small nuclear RNA activating complex, polypeptide 4, 190kD NA 9418884 Standard NM_003086 XM_005266096 NA Approved SNAP190, PTFalpha, FLJ13451 uc004chh.3 Q5SXM2 OTTHUMG00000020929 ENST00000298532.2:c.738-7C>T chr9.hg19:g.139287053G>A NA hg19 CCDS6998.1 0.02 7.725008 GTGxAAG COVERED NOVEL SNAPC4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055071.1 1 13.544191 KEEP 0 0 0 45 1600 GG 1 1 0 - 12 60 395 0 0 25.061568 208 60 7642 328 ENST00000298532.2 0.054545 1 SNAPC4 6621 __UNKNOWN__ __UNKNOWN__ 9 139287148 139287148 __UNKNOWN__ Silent SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:139287148G>A ENST00000298532.2 - 7 1082 c.714C>T c.(712-714)gcC>gcT p.A238A NM_003086.2 NP_003077.2 small nuclear RNA activating complex, polypeptide 4, 190kDa NA NA biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 33 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) TCTCCTTCTCGGCTTCCCTGC 0.622 NA NA NA NA NA NA NA NA NA NA NA 0 78 78 78 NA NA 9 NA 139287148 2203 4300 6503 SO:0001819 synonymous_variant AF032387 CCDS6998.1 9q34.3 2008-07-21 2002-08-29 ENSG00000165684 ENSG00000165684 6621 11137 protein-coding gene gene with protein product 602777 small nuclear RNA activating complex, polypeptide 4, 190kD NA 9418884 Standard NM_003086 XM_005266096 NA Approved SNAP190, PTFalpha, FLJ13451 uc004chh.3 Q5SXM2 OTTHUMG00000020929 ENST00000298532.2:c.714C>T chr9.hg19:g.139287148G>A NA hg19 CCDS6998.1 0.02 8.059468 CTCxGCT COVERED NOVEL SNAPC4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055071.1 1 15.305994 KEEP 0 0 0 51 1667 GG 1 1 0 - 7 60 258 0 0 15.280799 243 60 8342 375 ENST00000298532.2 0.028 1 SNAPC4 6621 __UNKNOWN__ __UNKNOWN__ 9 139289825 139289825 __UNKNOWN__ Silent SNP A A G rs4266763 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:139289825A>G ENST00000298532.2 - 4 764 c.396T>C c.(394-396)gaT>gaC p.D132D NM_003086.2 NP_003077.2 small nuclear RNA activating complex, polypeptide 4, 190kDa NA NA biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 33 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) GGCTTTTGCCATCTTTCACCT 0.567 NA a||| 1983 0.395966 0.3593 0.5793 5008 , , NA 18187 0.3214 NA 0.3907 False NA ,,, NA NA NA 2504 0.3978 NA NA NA NA 0 G 1553,2853 666.9+/-401.8 266,1021,916 114 102 106 396 -9.4 0 9 dbSNP_111 106 3587,5013 626.9+/-397.9 742,2103,1455 no coding-synonymous SNAPC4 NM_003086.2 1008,3124,2371 GG,GA,AA 41.7093,35.2474,39.5202 132/1470 139289825 5140,7866 2203 4300 6503 SO:0001819 synonymous_variant AF032387 CCDS6998.1 9q34.3 2008-07-21 2002-08-29 ENSG00000165684 ENSG00000165684 6621 11137 protein-coding gene gene with protein product 602777 small nuclear RNA activating complex, polypeptide 4, 190kD NA 9418884 Standard NM_003086 XM_005266096 NA Approved SNAP190, PTFalpha, FLJ13451 uc004chh.3 Q5SXM2 OTTHUMG00000020929 ENST00000298532.2:c.396T>C chr9.hg19:g.139289825A>G NA hg19 CCDS6998.1 0.02 12.34861 GCCxTCT COVERED NOVEL SNAPC4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055071.1 1 17.165726 KEEP 0 1 28 67 2112 AA 1 1 0 - 13 60 426 0 0 24.905143 327 60 11921 514 ENST00000298532.2 0.038235 1 SDCCAG3 10807 __UNKNOWN__ __UNKNOWN__ 9 139298653 139298653 __UNKNOWN__ Intron SNP G G A rs12235378 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:139298653G>A ENST00000357365.3 - 9 1198 SDCCAG3_ENST00000298537.7_Intron|SDCCAG3_ENST00000461693.1_Intron|SDCCAG3_ENST00000371725.3_Intron NM_001039707.1 NP_001034796.1 Q96C92 SDCG3_HUMAN serologically defined colon cancer antigen 3 NA NA cytoplasm (GO:0005737) NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9) 16 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06) GCGCCTGGGGGGACGGTTACG 0.662 NA G||| 324 0.0646965 0.0477 0.0086 5008 , , NA 18887 0.1379 NA 0.0378 False NA ,,, NA NA NA 2504 0.0798 NA NA NA NA 0 G ,, 170,3840 6,158,1841 68 77 74 ,, -1.7 0 9 dbSNP_120 74 246,8072 3,240,3916 no intron,intron,intron SDCCAG3 NM_001039707.1,NM_001039708.1,NM_006643.3 ,, 9,398,5757 AA,AG,GG 2.9574,4.2394,3.3744 ,, ,, 139298653 416,11912 2005 4159 6164 SO:0001627 intron_variant AF039688 CCDS6999.2, CCDS43903.1, CCDS43904.1 9q34.3 2010-10-27 ENSG00000165689 ENSG00000165689 10807 10667 protein-coding gene gene with protein product NA 9610721 Standard NM_006643 XM_005266050 NA Approved NY-CO-3 uc004chi.3 Q96C92 OTTHUMG00000020928 ENST00000357365.3:c.1069-7C>T chr9.hg19:g.139298653G>A NA A6NCP1|O60525|Q5SXN1|Q5SXN2|Q5SXN3|Q5SXN4|Q5SXN8|Q6V704|Q9NVY5 hg19 CCDS43904.1 0.02 8.452157 GGGxGAC COVERED NOVEL SDCCAG3-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000055060.2 2 37.922153 KEEP 0 0 0 126 4509 GG 1 1 0 - 8 60 282 0 0 16.978283 220 60 8177 487 ENST00000357365.3 0.035088 1 SDCCAG3 10807 __UNKNOWN__ __UNKNOWN__ 9 139300484 139300484 __UNKNOWN__ Intron SNP C C T rs59257707 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:139300484C>T ENST00000357365.3 - 6 949 SDCCAG3_ENST00000298537.7_Intron|SDCCAG3_ENST00000371725.3_Intron NM_001039707.1 NP_001034796.1 Q96C92 SDCG3_HUMAN serologically defined colon cancer antigen 3 NA NA cytoplasm (GO:0005737) NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9) 16 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06) CTCAAAAGGGCGTGTGCTTCT 0.507 NA C||| 324 0.0646965 0.0477 0.0086 5008 , , NA 18014 0.1379 NA 0.0378 False NA ,,, NA NA NA 2504 0.0798 NA NA NA NA 0 C ,, 45,1339 2,41,649 65 50 55 ,, -8.2 0 9 dbSNP_129 55 87,3095 0,87,1504 no intron,intron,intron SDCCAG3 NM_001039707.1,NM_001039708.1,NM_006643.3 ,, 2,128,2153 TT,TC,CC 2.7341,3.2514,2.8909 ,, ,, 139300484 132,4434 692 1591 2283 SO:0001627 intron_variant AF039688 CCDS6999.2, CCDS43903.1, CCDS43904.1 9q34.3 2010-10-27 ENSG00000165689 ENSG00000165689 10807 10667 protein-coding gene gene with protein product NA 9610721 Standard NM_006643 XM_005266050 NA Approved NY-CO-3 uc004chi.3 Q96C92 OTTHUMG00000020928 ENST00000357365.3:c.820-54G>A chr9.hg19:g.139300484C>T NA A6NCP1|O60525|Q5SXN1|Q5SXN2|Q5SXN3|Q5SXN4|Q5SXN8|Q6V704|Q9NVY5 hg19 CCDS43904.1 0.02 7.003136 GGGxGTG COVERED NOVEL SDCCAG3-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000055060.2 2 11.136014 KEEP 0 0 0 37 1295 CC 1 1 0 - 9 60 329 0 0 22.308273 145 60 5139 252 ENST00000357365.3 0.058442 1 SDCCAG3 10807 __UNKNOWN__ __UNKNOWN__ 9 139300547 139300547 __UNKNOWN__ Intron SNP A A G rs10781518 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:139300547A>G ENST00000357365.3 - 6 949 SDCCAG3_ENST00000298537.7_Intron|SDCCAG3_ENST00000371725.3_Intron NM_001039707.1 NP_001034796.1 Q96C92 SDCG3_HUMAN serologically defined colon cancer antigen 3 NA NA cytoplasm (GO:0005737) NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9) 16 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06) TCAGTGCAGCATCCACCTGCA 0.542 NA G||| 1993 0.397963 0.3313 0.6081 5008 , , NA 15834 0.3214 NA 0.4205 False NA ,,, NA NA NA 2504 0.3947 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF039688 CCDS6999.2, CCDS43903.1, CCDS43904.1 9q34.3 2010-10-27 ENSG00000165689 ENSG00000165689 10807 10667 protein-coding gene gene with protein product NA 9610721 Standard NM_006643 XM_005266050 NA Approved NY-CO-3 uc004chi.3 Q96C92 OTTHUMG00000020928 ENST00000357365.3:c.820-117T>C chr9.hg19:g.139300547A>G NA A6NCP1|O60525|Q5SXN1|Q5SXN2|Q5SXN3|Q5SXN4|Q5SXN8|Q6V704|Q9NVY5 hg19 CCDS43904.1 0.02 1.716398 AGCxTCC COVERED NOVEL SDCCAG3-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000055060.2 1 6.014653 KEEP 0 0 0 20 564 AA 0.999863 0.999631 0 - 5 60 174 0 0 11.481243 82 60 2851 117 ENST00000357365.3 0.057471 0.999768 PMPCA 23203 __UNKNOWN__ __UNKNOWN__ 9 139316916 139316916 __UNKNOWN__ Intron SNP G G C rs10870166 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:139316916G>C ENST00000371717.3 + 12 1417 PMPCA_ENST00000399219.3_Intron NM_001282946.1|NM_015160.1 NP_001269875.1|NP_055975.1 Q10713 MPPA_HUMAN peptidase (mitochondrial processing) alpha NA NA cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508) extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739) metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222) endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1) 14 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05) GGACTCTTCTGGGGGACAGGC 0.577 NA G||| 986 0.196885 0.0605 0.3069 5008 , , NA 17574 0.1667 NA 0.2734 False NA ,,, NA NA NA 2504 0.2556 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D21064 CCDS35180.1, CCDS65192.1 9q34.3 2008-02-05 2003-06-13 2003-06-20 ENSG00000165688 ENSG00000165688 23203 18667 protein-coding gene gene with protein product 613036 inositol polyphosphate-5-phosphatase, 72 kD INPP5E NA 8590280, 7788527 Standard NM_015160 NM_015160 NA Approved KIAA0123, Alpha-MPP uc004chl.3 Q10713 OTTHUMG00000020926 ENST00000371717.3:c.1408+488G>C chr9.hg19:g.139316916G>C NA B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513 hg19 CCDS35180.1 0.02 7.766145 TCTxGGG COVERED NOVEL PMPCA-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055054.1 1 15.349794 KEEP 0 0 0 51 1801 GG 1 1 0 + 8 60 266 0 0 15.777833 196 60 7243 318 ENST00000371717.3 0.039216 1 PMPCA 23203 __UNKNOWN__ __UNKNOWN__ 9 139317869 139317869 __UNKNOWN__ 3'UTR SNP T T C rs1130635 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:139317869T>C ENST00000371717.3 + 0 1740 PMPCA_ENST00000399219.3_3'UTR NM_001282946.1|NM_015160.1 NP_001269875.1|NP_055975.1 Q10713 MPPA_HUMAN peptidase (mitochondrial processing) alpha NA NA cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508) extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739) metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222) endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1) 14 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05) TGCATTCTTTTGGAACTCAAT 0.527 NA C||| 989 0.197484 0.0628 0.3069 5008 , , NA 19655 0.1667 NA 0.2734 False NA ,,, NA NA NA 2504 0.2556 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D21064 CCDS35180.1, CCDS65192.1 9q34.3 2008-02-05 2003-06-13 2003-06-20 ENSG00000165688 ENSG00000165688 23203 18667 protein-coding gene gene with protein product 613036 inositol polyphosphate-5-phosphatase, 72 kD INPP5E NA 8590280, 7788527 Standard NM_015160 NM_015160 NA Approved KIAA0123, Alpha-MPP uc004chl.3 Q10713 OTTHUMG00000020926 ENST00000371717.3:c.*153T>C chr9.hg19:g.139317869T>C NA B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513 hg19 CCDS35180.1 0.02 6.815557 TTTxGGA COVERED NOVEL PMPCA-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055054.1 1 13.538403 KEEP 0 0 0 45 1376 TT 1 1 0 + 7 60 259 0 0 16.663798 158 60 5802 289 ENST00000371717.3 0.042424 1 NOTCH1 4851 __UNKNOWN__ __UNKNOWN__ 9 139389184 139389184 __UNKNOWN__ 3'UTR SNP A A G rs6563 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:139389184A>G ENST00000277541.6 - 0 9082 NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 NA NA anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222) cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GAGCTGAGCCAAGTCTGACGT 0.537 NA T, Mis, O TRB@ T-ALL HNSCC(8;0.001) G||| 2527 0.504593 0.5968 0.4669 5008 , , NA 14389 0.6944 NA 0.4771 False NA ,,, NA NA NA 2504 0.2393 NA NA NA Dom yes 9 9q34.3 4851 Notch homolog 1, translocation-associated (Drosophila) (TAN1) L 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF308602 CCDS43905.1 9q34.3 2013-01-10 2010-06-24 ENSG00000148400 ENSG00000148400 4851 Ankyrin repeat domain containing 7881 protein-coding gene gene with protein product 190198 Notch (Drosophila) homolog 1 (translocation-associated), Notch homolog 1, translocation-associated (Drosophila) TAN1 NA 1831692 Standard NM_017617 NM_017617 NA Approved uc004chz.3 P46531 OTTHUMG00000020935 ENST00000277541.6:c.*1339T>C chr9.hg19:g.139389184A>G NA Q59ED8|Q5SXM3 hg19 CCDS43905.1 0.02 2.262643 GCCxAGT COVERED NOVEL NOTCH1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055087.1 0 5.048371 KEEP 0 1 35 29 869 AA 0.999997 0.999904 0 - 8 60 297 0 0 21.637926 86 60 3053 143 ENST00000277541.6 0.085106 0.999907 NOTCH1 4851 __UNKNOWN__ __UNKNOWN__ 9 139391636 139391636 __UNKNOWN__ Silent SNP G G A rs2229974 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:139391636G>A ENST00000277541.6 - 34 6630 c.6555C>T c.(6553-6555)gaC>gaT p.D2185D NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 2185 NA anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222) cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) p.K2182fs*61(1)|p.S2163_T2283del(1) breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) AGCCCTTGCCGTCCTGGGACT 0.662 NA T, Mis, O TRB@ T-ALL HNSCC(8;0.001) G||| 3481 0.695088 0.6278 0.6542 5008 , , NA 16337 0.9494 NA 0.5775 False NA ,,, NA NA NA 2504 0.6738 NA NA NA Dom yes 9 9q34.3 4851 Notch homolog 1, translocation-associated (Drosophila) (TAN1) L 2 Deletion - Frameshift(1)|Deletion - In frame(1) haematopoietic_and_lymphoid_tissue(2) G 2777,1589 891,995,297 47 54 52 6555 -0.8 1 9 dbSNP_98 52 4726,3816 1319,2088,864 no coding-synonymous NOTCH1 NM_017617.3 2210,3083,1161 AA,AG,GG 44.6734,36.3949,41.8733 2185/2556 139391636 7503,5405 2183 4271 6454 SO:0001819 synonymous_variant AF308602 CCDS43905.1 9q34.3 2013-01-10 2010-06-24 ENSG00000148400 ENSG00000148400 4851 Ankyrin repeat domain containing 7881 protein-coding gene gene with protein product 190198 Notch (Drosophila) homolog 1 (translocation-associated), Notch homolog 1, translocation-associated (Drosophila) TAN1 NA 1831692 Standard NM_017617 NM_017617 NA Approved uc004chz.3 P46531 OTTHUMG00000020935 ENST00000277541.6:c.6555C>T chr9.hg19:g.139391636G>A NA Q59ED8|Q5SXM3 hg19 CCDS43905.1 0.02 11.202142 GCCxTCC COVERED NOVEL NOTCH1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055087.1 2 16.787333 KEEP 0 1 32 67 2297 GG 1 1 0 - 23 60 818 0 0 59.28833 231 60 8041 382 ENST00000277541.6 0.090551 1 NOTCH1 4851 __UNKNOWN__ __UNKNOWN__ 9 139396408 139396408 __UNKNOWN__ Intron SNP A A G rs386739585|rs3124594 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:139396408A>G ENST00000277541.6 - 30 5548 NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 NA NA anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222) cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GCAGCCCGGCAGCAGGTGCCC 0.652 NA T, Mis, O TRB@ T-ALL HNSCC(8;0.001) G||| 3714 0.741613 0.9145 0.6167 5008 , , NA 13094 0.9226 NA 0.5328 False NA ,,, NA NA NA 2504 0.6247 NA NA NA Dom yes 9 9q34.3 4851 Notch homolog 1, translocation-associated (Drosophila) (TAN1) L 0 G 3302,564 1412,478,43 34 43 40 -4.2 0 9 dbSNP_103 40 4105,4151 1005,2095,1028 no intron NOTCH1 NM_017617.3 2417,2573,1071 GG,GA,AA 49.7214,14.5887,38.8962 139396408 7407,4715 1933 4128 6061 SO:0001627 intron_variant AF308602 CCDS43905.1 9q34.3 2013-01-10 2010-06-24 ENSG00000148400 ENSG00000148400 4851 Ankyrin repeat domain containing 7881 protein-coding gene gene with protein product 190198 Notch (Drosophila) homolog 1 (translocation-associated), Notch homolog 1, translocation-associated (Drosophila) TAN1 NA 1831692 Standard NM_017617 NM_017617 NA Approved uc004chz.3 P46531 OTTHUMG00000020935 ENST00000277541.6:c.5473-43T>C chr9.hg19:g.139396408A>G NA Q59ED8|Q5SXM3 hg19 CCDS43905.1 0.02 8.827497 GGCxGCA COVERED NOVEL NOTCH1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055087.1 0 17.286362 KEEP 0 1 36 70 2172 AA 1 1 0 - 16 60 538 0 0 36.9895 191 60 7033 346 ENST00000277541.6 0.077295 1 NOTCH1 4851 __UNKNOWN__ __UNKNOWN__ 9 139396690 139396690 __UNKNOWN__ Intron SNP C C T rs75842134 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:139396690C>T ENST00000277541.6 - 28 5460 NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 NA NA anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222) cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) CACCTCCCACCGGGGACCCAG 0.721 NA T, Mis, O TRB@ T-ALL HNSCC(8;0.001) C||| 810 0.161741 0.0303 0.1196 5008 , , NA 9928 0.5982 NA 0.0616 False NA ,,, NA NA NA 2504 0.0225 NA NA NA Dom yes 9 9q34.3 4851 Notch homolog 1, translocation-associated (Drosophila) (TAN1) L 0 C 135,3577 5,125,1726 8 10 9 0.2 0 9 dbSNP_131 9 266,7850 3,260,3795 no intron NOTCH1 NM_017617.3 8,385,5521 TT,TC,CC 3.2775,3.6369,3.3903 139396690 401,11427 1856 4058 5914 SO:0001627 intron_variant AF308602 CCDS43905.1 9q34.3 2013-01-10 2010-06-24 ENSG00000148400 ENSG00000148400 4851 Ankyrin repeat domain containing 7881 protein-coding gene gene with protein product 190198 Notch (Drosophila) homolog 1 (translocation-associated), Notch homolog 1, translocation-associated (Drosophila) TAN1 NA 1831692 Standard NM_017617 NM_017617 NA Approved uc004chz.3 P46531 OTTHUMG00000020935 ENST00000277541.6:c.5384+33G>A chr9.hg19:g.139396690C>T NA Q59ED8|Q5SXM3 hg19 CCDS43905.1 0.02 4.249908 CACxGGG COVERED NOVEL NOTCH1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055087.1 0 6.922238 KEEP 0 0 0 23 793 CC 0.999892 0.99989 0 - 9 60 318 0 0 22.323956 108 60 3629 157 ENST00000277541.6 0.076923 0.999998 NOTCH1 4851 __UNKNOWN__ __UNKNOWN__ 9 139397707 139397707 __UNKNOWN__ Silent SNP G G A rs10521 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:139397707G>A ENST00000277541.6 - 27 5169 c.5094C>T c.(5092-5094)gaC>gaT p.D1698D NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 1698 NA anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222) cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) p.D1699D(11) breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) ATGCGGCCACGTCGGTGGCAC 0.632 NA T, Mis, O TRB@ T-ALL HNSCC(8;0.001) G||| 2772 0.553514 0.5552 0.5115 5008 , , NA 17626 0.9018 NA 0.4046 False NA ,,, NA NA NA 2504 0.3753 NA NA NA Dom yes 9 9q34.3 4851 Notch homolog 1, translocation-associated (Drosophila) (TAN1) L 11 Substitution - coding silent(11) haematopoietic_and_lymphoid_tissue(11) G 2208,2062 587,1034,514 57 67 64 5094 -4.9 0.8 9 dbSNP_52 64 3010,5508 545,1920,1794 no coding-synonymous NOTCH1 NM_017617.3 1132,2954,2308 AA,AG,GG 35.3369,48.2904,40.8039 1698/2556 139397707 5218,7570 2135 4259 6394 SO:0001819 synonymous_variant AF308602 CCDS43905.1 9q34.3 2013-01-10 2010-06-24 ENSG00000148400 ENSG00000148400 4851 Ankyrin repeat domain containing 7881 protein-coding gene gene with protein product 190198 Notch (Drosophila) homolog 1 (translocation-associated), Notch homolog 1, translocation-associated (Drosophila) TAN1 NA 1831692 Standard NM_017617 NM_017617 NA Approved uc004chz.3 P46531 OTTHUMG00000020935 ENST00000277541.6:c.5094C>T chr9.hg19:g.139397707G>A NA Q59ED8|Q5SXM3 hg19 CCDS43905.1 0.02 11.396563 CACxTCG COVERED NOVEL NOTCH1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055087.1 3 9.9004 KEEP 0 2 57 53 1872 GG 1 1 0 - 28 60 1004 0 0 74.947196 237 60 8360 390 ENST00000277541.6 0.10566 1 NOTCH1 4851 __UNKNOWN__ __UNKNOWN__ 9 139402908 139402908 __UNKNOWN__ Intron SNP T T C rs3812603 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:139402908T>C ENST00000277541.6 - 20 3247 NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 NA NA anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222) cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) AACGCACATCTGCCAAGGGGC 0.642 NA T, Mis, O TRB@ T-ALL HNSCC(8;0.001) C||| 3813 0.761382 0.9365 0.6398 5008 , , NA 14270 0.9147 NA 0.5795 False NA ,,, NA NA NA 2504 0.6401 NA NA NA Dom yes 9 9q34.3 4851 Notch homolog 1, translocation-associated (Drosophila) (TAN1) L 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF308602 CCDS43905.1 9q34.3 2013-01-10 2010-06-24 ENSG00000148400 ENSG00000148400 4851 Ankyrin repeat domain containing 7881 protein-coding gene gene with protein product 190198 Notch (Drosophila) homolog 1 (translocation-associated), Notch homolog 1, translocation-associated (Drosophila) TAN1 NA 1831692 Standard NM_017617 NM_017617 NA Approved uc004chz.3 P46531 OTTHUMG00000020935 ENST00000277541.6:c.3172-71A>G chr9.hg19:g.139402908T>C NA Q59ED8|Q5SXM3 hg19 CCDS43905.1 0.02 1.619343 ATCxGCC COVERED NOVEL NOTCH1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055087.1 0 6.017203 KEEP 0 0 0 20 622 TT 0.999863 0.993566 0 - 4 60 130 0 0 8.386833 61 60 2212 91 ENST00000277541.6 0.061538 0.993703 NOTCH1 4851 __UNKNOWN__ __UNKNOWN__ 9 139405261 139405261 __UNKNOWN__ Intron SNP C C T rs3125001 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:139405261C>T ENST00000277541.6 - 17 2663 NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 NA NA anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222) cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GTCTGCCCTGCGGGGCAGGAG 0.697 NA T, Mis, O TRB@ T-ALL HNSCC(8;0.001) C||| 2932 0.585463 0.6952 0.513 5008 , , NA 14837 0.872 NA 0.4284 False NA ,,, NA NA NA 2504 0.3548 NA NA NA Dom yes 9 9q34.3 4851 Notch homolog 1, translocation-associated (Drosophila) (TAN1) L 0 C 2457,1495 782,893,301 26 31 30 0.2 0.3 9 dbSNP_103 30 3093,5155 594,1905,1625 no intron NOTCH1 NM_017617.3 1376,2798,1926 TT,TC,CC 37.5,37.8289,45.4918 139405261 5550,6650 1976 4124 6100 SO:0001627 intron_variant AF308602 CCDS43905.1 9q34.3 2013-01-10 2010-06-24 ENSG00000148400 ENSG00000148400 4851 Ankyrin repeat domain containing 7881 protein-coding gene gene with protein product 190198 Notch (Drosophila) homolog 1 (translocation-associated), Notch homolog 1, translocation-associated (Drosophila) TAN1 NA 1831692 Standard NM_017617 NM_017617 NA Approved uc004chz.3 P46531 OTTHUMG00000020935 ENST00000277541.6:c.2588-4G>A chr9.hg19:g.139405261C>T NA Q59ED8|Q5SXM3 hg19 CCDS43905.1 0.02 7.03281 CTGxGGG COVERED NOVEL NOTCH1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055087.1 0 17.689702 KEEP 0 1 32 70 2355 CC 1 1 0 - 14 60 526 0 0 38.548045 149 60 5109 311 ENST00000277541.6 0.08589 1 NOTCH1 4851 __UNKNOWN__ __UNKNOWN__ 9 139407932 139407932 __UNKNOWN__ Silent SNP A A G rs2229971|rs587778559 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:139407932A>G ENST00000277541.6 - 14 2340 c.2265T>C c.(2263-2265)aaT>aaC p.N755N NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 755 EGF-like 20. {ECO:0000255|PROSITE- ProRule:PRU00076}. NA anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222) cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) ATTCACACTCATTGTTGTTGA 0.602 NA T, Mis, O TRB@ T-ALL HNSCC(8;0.001) G||| 2643 0.527756 0.6997 0.4784 5008 , , NA 19531 0.7768 NA 0.335 False NA ,,, NA NA NA 2504 0.272 NA NA NA Dom yes 9 9q34.3 4851 Notch homolog 1, translocation-associated (Drosophila) (TAN1) L 0 G 2695,1683 864,967,358 109 123 118 2265 -2.3 0 9 dbSNP_98 118 2445,6109 358,1729,2190 no coding-synonymous NOTCH1 NM_017617.3 1222,2696,2548 GG,GA,AA 28.5831,38.4422,39.7464 755/2556 139407932 5140,7792 2189 4277 6466 SO:0001819 synonymous_variant AF308602 CCDS43905.1 9q34.3 2013-01-10 2010-06-24 ENSG00000148400 ENSG00000148400 4851 Ankyrin repeat domain containing 7881 protein-coding gene gene with protein product 190198 Notch (Drosophila) homolog 1 (translocation-associated), Notch homolog 1, translocation-associated (Drosophila) TAN1 NA 1831692 Standard NM_017617 NM_017617 NA Approved uc004chz.3 P46531 OTTHUMG00000020935 ENST00000277541.6:c.2265T>C chr9.hg19:g.139407932A>G NA Q59ED8|Q5SXM3 hg19 CCDS43905.1 0.02 9.057345 CTCxTTG COVERED NOVEL NOTCH1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055087.1 1 18.654522 KEEP 0 0 0 62 1911 AA 1 1 0 - 23 60 775 0 0 55.177196 227 60 8290 390 ENST00000277541.6 0.092 1 EGFL7 51162 __UNKNOWN__ __UNKNOWN__ 9 139563144 139563144 __UNKNOWN__ Intron SNP C C A rs2297535 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:139563144C>A ENST00000371699.1 + 4 1108 EGFL7_ENST00000492002.1_Intron|EGFL7_ENST00000406555.3_Intron|EGFL7_ENST00000371698.3_Intron|EGFL7_ENST00000308874.7_Intron Q9UHF1 EGFL7_HUMAN EGF-like-domain, multiple 7 NA NA angiogenesis (GO:0001525)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|negative regulation of cell migration (GO:0030336)|negative regulation of Notch signaling pathway (GO:0045746)|positive regulation of endothelial cell proliferation (GO:0001938)|vasculogenesis (GO:0001570) extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615) calcium ion binding (GO:0005509) kidney(2)|ovary(1)|prostate(2)|urinary_tract(1) 6 all_cancers(76;0.109) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123) CCCACCACACCGAGCTCACCC 0.662 NA c||| 757 0.151158 0.1339 0.1902 5008 , , NA 15449 0.1379 NA 0.2127 False NA ,,, NA NA NA 2504 0.0971 NA NA NA NA 0 C , 625,3777 250.3+/-257.4 47,531,1623 49 49 49 , -3.5 0 9 dbSNP_100 49 1791,6793 302.8+/-306.1 167,1457,2668 no intron,intron EGFL7 NM_016215.4,NM_201446.2 , 214,1988,4291 AA,AC,CC 20.8644,14.1981,18.6047 , , 139563144 2416,10570 2201 4292 6493 SO:0001627 intron_variant AF186111 CCDS7002.1 9q34.3 2008-02-05 ENSG00000172889 ENSG00000172889 51162 20594 protein-coding gene gene with protein product 608582 NA Standard NM_016215 NM_016215 NA Approved ZNEU1 uc004cih.3 Q9UHF1 OTTHUMG00000020938 ENST00000371699.1:c.197+19C>A chr9.hg19:g.139563144C>A NA B3KRP0|M9VTX9|Q5M7Y5|Q5VUD5|Q96EG0 hg19 CCDS7002.1 0.02 6.62166 CACxGAG COVERED NOVEL EGFL7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055094.1 1 13.506288 KEEP 0 0 0 45 1439 CC 1 1 0 + 6 60 226 0 0 14.473767 147 60 4952 239 ENST00000371699.1 0.039216 1 EGFL7 51162 __UNKNOWN__ __UNKNOWN__ 9 139564668 139564668 __UNKNOWN__ Missense_Mutation SNP G G A rs2297538 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:139564668G>A ENST00000371699.1 + 7 1368 c.457G>A c.(457-459)Gtc>Atc p.V153I EGFL7_ENST00000492002.1_3'UTR|EGFL7_ENST00000406555.3_Missense_Mutation_p.V153I|EGFL7_ENST00000371698.3_Missense_Mutation_p.V153I|EGFL7_ENST00000308874.7_Missense_Mutation_p.V153I Q9UHF1 EGFL7_HUMAN EGF-like-domain, multiple 7 153 EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}. NA V -> I (in dbSNP:rs2297538). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.2}. angiogenesis (GO:0001525)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|negative regulation of cell migration (GO:0030336)|negative regulation of Notch signaling pathway (GO:0045746)|positive regulation of endothelial cell proliferation (GO:0001938)|vasculogenesis (GO:0001570) extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615) calcium ion binding (GO:0005509) kidney(2)|ovary(1)|prostate(2)|urinary_tract(1) 6 all_cancers(76;0.109) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123) CCAGCGCTGCGTCAACACCGC 0.672 NA g||| 843 0.168331 0.2073 0.1945 5008 , , NA 17073 0.1349 NA 0.2087 False NA ,,, NA NA NA 2504 0.09 NA NA NA NA 0 G ILE/VAL,ILE/VAL 967,3427 108,751,1338 35 38 37 457,457 0.5 0.9 9 dbSNP_100 37 1757,6825 169,1419,2703 yes missense,missense EGFL7 NM_016215.4,NM_201446.2 29,29 277,2170,4041 AA,AG,GG 20.4731,22.0073,20.9926 benign,benign 153/274,153/274 139564668 2724,10252 2197 4291 6488 SO:0001583 missense AF186111 CCDS7002.1 9q34.3 2008-02-05 ENSG00000172889 ENSG00000172889 51162 20594 protein-coding gene gene with protein product 608582 NA Standard NM_016215 NM_016215 NA Approved ZNEU1 uc004cih.3 Q9UHF1 OTTHUMG00000020938 ENST00000371699.1:c.457G>A chr9.hg19:g.139564668G>A ENSP00000360764:p.Val153Ile NA B3KRP0|M9VTX9|Q5M7Y5|Q5VUD5|Q96EG0 hg19 CCDS7002.1 0.02 4.467029 TGCxTCA COVERED 407 0.18635531135531136 118 0.23983739837398374 66 0.18232044198895028 68 0.11888111888111888 155 0.20448548812664907 G 6.763 0.509711 0.12883 0.220073 0.204731 ENSG00000172889 ENST00000371699;ENST00000308874;ENST00000406555;ENST00000371698 T;T;T;T 0.31247 1.5;1.5;1.5;1.5 5.05 0.508 0.16972 EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2); 0.447530 0.23342 N 0.049234 T 0.00012 0.0000 N 0.05230 -0.09 0.26060 P 0.9813663 B 0.15473 0.013 B 0.12837 0.008 T 0.40384 -0.9566 9 0.27082 T 0.32 -17.081 9.6192 0.39710 0.4213:0.0:0.5787:0.0 rs2297538;rs17850906;rs61338841;rs2297538 153 Q9UHF1 EGFL7_HUMAN I 153 ENSP00000360764:V153I;ENSP00000307843:V153I;ENSP00000385639:V153I;ENSP00000360763:V153I ENSP00000307843:V153I V + 1 0 EGFL7 138684489 0.020000 0.18652 0.857000 0.33713 0.266000 0.26442 -0.001000 0.12947 0.173000 0.19788 -0.254000 0.11334 GTC NOVEL EGFL7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055094.1 0 9.028382 KEEP 0 0 0 30 1018 GG 0.999997 0.999994 0 + 11 60 404 0 0 29.900932 104 60 3537 177 ENST00000371699.1 0.095652 0.999997 EGFL7 51162 __UNKNOWN__ __UNKNOWN__ 9 139566996 139566996 __UNKNOWN__ 3'UTR SNP G G A rs1051851 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:139566996G>A ENST00000371699.1 + 0 1991 EGFL7_ENST00000406555.3_3'UTR|EGFL7_ENST00000371698.3_3'UTR|EGFL7_ENST00000308874.7_3'UTR Q9UHF1 EGFL7_HUMAN EGF-like-domain, multiple 7 NA NA angiogenesis (GO:0001525)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|negative regulation of cell migration (GO:0030336)|negative regulation of Notch signaling pathway (GO:0045746)|positive regulation of endothelial cell proliferation (GO:0001938)|vasculogenesis (GO:0001570) extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615) calcium ion binding (GO:0005509) kidney(2)|ovary(1)|prostate(2)|urinary_tract(1) 6 all_cancers(76;0.109) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123) GGCCAGGTGGGCCCTCAGCTG 0.682 NA g||| 571 0.114018 0.1059 0.1398 5008 , , NA 12934 0.0694 NA 0.2048 False NA ,,, NA NA NA 2504 0.0593 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF186111 CCDS7002.1 9q34.3 2008-02-05 ENSG00000172889 ENSG00000172889 51162 20594 protein-coding gene gene with protein product 608582 NA Standard NM_016215 NM_016215 NA Approved ZNEU1 uc004cih.3 Q9UHF1 OTTHUMG00000020938 ENST00000371699.1:c.*258G>A chr9.hg19:g.139566996G>A NA B3KRP0|M9VTX9|Q5M7Y5|Q5VUD5|Q96EG0 hg19 CCDS7002.1 0.02 6.62475 TGGxCCC COVERED NOVEL EGFL7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055094.1 1 17.152292 KEEP 0 0 0 57 1967 GG 1 1 0 + 10 60 344 0 0 22.827048 154 60 5642 275 ENST00000371699.1 0.060976 1 AGPAT2 10555 __UNKNOWN__ __UNKNOWN__ 9 139567687 139567687 __UNKNOWN__ 3'UTR SNP G G A rs10320 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:139567687G>A ENST00000371696.2 - 0 1419 AGPAT2_ENST00000371694.3_3'UTR|AGPAT2_ENST00000538402.1_3'UTR NM_006412.3 NP_006403.2 O15120 PLCB_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 2 NA NA CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|epidermis development (GO:0008544)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) 1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841) endometrium(1)|large_intestine(1)|lung(2)|prostate(2) 6 all_cancers(76;0.0893)|all_epithelial(76;0.231) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123) AGCAGGCCCCGATTCCCGGCT 0.622 NA N||| 1673 0.334065 0.2201 0.2622 5008 , , NA 15542 0.5992 NA 0.2048 False NA ,,, NA NA NA 2504 0.3988 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF000237 CCDS7003.1, CCDS35181.1 9q34.3 2013-02-05 2013-02-05 ENSG00000169692 ENSG00000169692 10555 2.3.1.51 1-acylglycerol-3-phosphate O-acyltransferases 325 protein-coding gene gene with protein product LPAAT-beta, lysophosphatidic acid acyltransferase, beta 603100 Berardinelli-Seip congenital lipodystrophy, 1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta) BSCL NA 9242711, 9212163 Standard NM_006412 NM_006412 NA Approved uc004cii.1 O15120 OTTHUMG00000020936 ENST00000371696.2:c.*517C>T chr9.hg19:g.139567687G>A NA O00516|O15106|Q5VUD3|Q5VUD4|Q9BSV7|Q9BWR7 hg19 CCDS7003.1 0.02 4.261768 CCCxATT COVERED NOVEL AGPAT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055090.1 1 6.654083 KEEP 0 1 25 31 1050 GG 0.999997 0.999997 0 - 6 60 224 0 0 14.770028 121 60 4197 197 ENST00000371696.2 0.047244 1 SNHG7 84973 __UNKNOWN__ __UNKNOWN__ 9 139621326 139621326 __UNKNOWN__ RNA SNP G G A rs2275159 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:139621326G>A ENST00000414282.1 - 0 345 SNHG7_ENST00000416970.1_RNA|SNHG7_ENST00000391185.1_RNA|SNHG7_ENST00000447221.1_RNA small nucleolar RNA host gene 7 (non-protein coding) NA NA NA CGCCTCTAGGGGCAGTGTCCT 0.522 NA OREG0019621 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) G||| 257 0.0513179 0.003 0.0605 5008 , , NA 19533 0.1895 NA 0.0089 False NA ,,, NA NA NA 2504 0.0112 NA NA NA NA 0 G 7,1745 0,7,869 58 54 55 4 1 9 dbSNP_100 55 15,3967 0,15,1976 no intergenic 0,22,2845 AA,AG,GG 0.3767,0.3995,0.3837 139621326 22,5712 876 1991 2867 CR599965, BC042369 9q34.3 2012-10-16 2008-08-14 ENSG00000233016 84973 Long non-coding RNAs 28254 non-coding RNA RNA, long non-coding non-protein coding RNA 61 NA 12477932 Standard NR_003672 NR_003672 NA Approved MGC16037, NCRNA00061 uc004cim.2 ENST00000414282.1: chr9.hg19:g.139621326G>A 1650 hg19 0.02 7.195268 AGGxGCA COVERED NOVEL SNHG7-001 KNOWN basic antisense NA antisense OTTHUMT00000055146.1 1 24.076948 KEEP 0 0 0 80 2765 GG 1 1 0 - 14 60 528 0 0 37.777116 176 60 6490 338 ENST00000414282.1 0.073684 1 RABL6 55684 __UNKNOWN__ __UNKNOWN__ 9 139733593 139733593 __UNKNOWN__ Intron SNP C C T rs185358593 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:139733593C>T ENST00000311502.7 + 11 1729 RABL6_ENST00000371675.3_Intron|RABL6_ENST00000432842.2_Intron|RABL6_ENST00000357466.2_Intron|RABL6_ENST00000371663.4_Intron Q3YEC7 RABL6_HUMAN RAB, member RAS oncogene family-like 6 NA NA small GTPase mediated signal transduction (GO:0007264) cytoplasm (GO:0005737)|nucleus (GO:0005634) GTP binding (GO:0005525) NA GGTGTCCCCACGGGTGCGGCC 0.632 NA C||| 15 0.00299521 0.0 0.0 5008 , , NA 16355 0.0119 NA 0.0 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 21 25 24 NA NA 9 NA 139733593 1967 4150 6117 SO:0001627 intron_variant AK094382 CCDS48058.1, CCDS55352.1, CCDS55353.1 9q34.3 2012-06-28 2012-06-28 2012-06-28 ENSG00000196642 ENSG00000196642 55684 24703 protein-coding gene gene with protein product Rab-like protein 1, partner of ARF 610615 chromosome 9 open reading frame 86 C9orf86 NA 14702039, 16582619, 17962191, 19433581 Standard NM_024718 NM_024718 NA Approved FLJ10101, FLJ13045, pp8875, bA216L13.9, Parf, RBEL1 uc004cjj.1 Q3YEC7 OTTHUMG00000020947 ENST00000311502.7:c.1493+20C>T chr9.hg19:g.139733593C>T NA A8QVZ7|A8QVZ8|C6K8I4|C6K8I5|Q4F968|Q5T5R7|Q8IWK1|Q8TCL4|Q8WU94|Q96SR8|Q9BU21|Q9H935 hg19 CCDS48058.1 0.02 2.123062 CCAxGGG COVERED NOVEL RABL6-009 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000055141.4 0 5.116348 KEEP 0 0 0 17 595 CC 0.999366 0.970205 0 + 4 60 145 0 0 10.251521 49 60 1681 83 ENST00000311502.7 0.075472 0.97082 C8G 733 __UNKNOWN__ __UNKNOWN__ 9 139839904 139839904 __UNKNOWN__ Silent SNP T T G rs2071006 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:139839904T>G ENST00000224181.3 + 1 192 c.132T>G c.(130-132)gcT>gcG p.A44A NM_000606.2 NP_000597.2 P07360 CO8G_HUMAN complement component 8, gamma polypeptide 44 NA complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449) blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579) retinol binding (GO:0019841) NS(1)|prostate(1)|skin(1) 3 all_cancers(76;0.11) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.19) OV - Ovarian serous cystadenocarcinoma(145;7.88e-06)|Epithelial(140;0.000107) ATTTTGATGCTCAGCAGGTAG 0.627 NA OREG0019623 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) T||| 2843 0.567692 0.5832 0.4179 5008 , , NA 16109 0.6954 NA 0.5417 False NA ,,, NA NA NA 2504 0.5481 NA NA NA NA 0 T 2475,1885 742,991,447 13 14 14 132 -3.5 0 9 dbSNP_96 14 4603,3957 1299,2005,976 no coding-synonymous C8G NM_000606.2 2041,2996,1423 GG,GT,TT 46.2266,43.2339,45.2167 44/203 139839904 7078,5842 2180 4280 6460 SO:0001819 synonymous_variant X06465 CCDS7017.1 9q 2011-11-15 ENSG00000176919 ENSG00000176919 733 Complement system, Lipocalins 1354 protein-coding gene gene with protein product 120930 NA Standard NM_000606 NA Approved uc004cka.2 P07360 OTTHUMG00000020955 ENST00000224181.3:c.132T>G chr9.hg19:g.139839904T>G 1651 Q14CT8|Q14CU0|Q5SQ07 hg19 CCDS7017.1 0.02 7.014949 TGCxCAG COVERED NOVEL C8G-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055178.1 0 15.045891 KEEP 0 4 119 92 2851 TT 1 1 0 + 11 60 351 0 0 23.349437 143 60 5121 330 ENST00000224181.3 0.071429 1 C8G 733 __UNKNOWN__ __UNKNOWN__ 9 139840471 139840471 __UNKNOWN__ Intron SNP G G T rs7862602 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:139840471G>T ENST00000224181.3 + 3 406 NM_000606.2 NP_000597.2 P07360 CO8G_HUMAN complement component 8, gamma polypeptide NA NA complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449) blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579) retinol binding (GO:0019841) NS(1)|prostate(1)|skin(1) 3 all_cancers(76;0.11) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.19) OV - Ovarian serous cystadenocarcinoma(145;7.88e-06)|Epithelial(140;0.000107) GGGCTGCAGGGCATGTGGGTG 0.672 NA G||| 3170 0.632987 0.6793 0.4452 5008 , , NA 15414 0.8363 NA 0.5437 False NA ,,, NA NA NA 2504 0.5859 NA NA NA NA 0 G 2749,1643 881,987,328 16 18 17 2.8 0 9 dbSNP_116 17 4557,4029 1236,2085,972 no intron C8G NM_000606.2 2117,3072,1300 TT,TG,GG 46.9252,37.4089,43.7047 139840471 7306,5672 2196 4293 6489 SO:0001627 intron_variant X06465 CCDS7017.1 9q 2011-11-15 ENSG00000176919 ENSG00000176919 733 Complement system, Lipocalins 1354 protein-coding gene gene with protein product 120930 NA Standard NM_000606 NA Approved uc004cka.2 P07360 OTTHUMG00000020955 ENST00000224181.3:c.346+20G>T chr9.hg19:g.139840471G>T NA Q14CT8|Q14CU0|Q5SQ07 hg19 CCDS7017.1 0.02 5.918385 AGGxCAT COVERED NOVEL C8G-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055178.1 1 18.693118 KEEP 1 1 34 74 2514 GG 1 1 0 + 13 60 438 0 0 30.252076 152 60 5453 285 ENST00000224181.3 0.078788 1 LCN12 286256 __UNKNOWN__ __UNKNOWN__ 9 139847570 139847570 __UNKNOWN__ Intron SNP T T C rs884218 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:139847570T>C ENST00000371633.3 + 2 251 NM_178536.3 NP_848631.2 Q6JVE5 LCN12_HUMAN lipocalin 12 NA NA lipid metabolic process (GO:0006629) extracellular region (GO:0005576) retinoic acid binding (GO:0001972)|transporter activity (GO:0005215) endometrium(1)|kidney(1)|lung(1)|prostate(2) 5 all_cancers(76;0.11) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.19) OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106) CCATGGGCCCTGTCCCAGCAC 0.647 NA T||| 3767 0.752196 0.8646 0.5807 5008 , , NA 11110 0.8641 NA 0.6938 False NA ,,, NA NA NA 2504 0.6667 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC041168 CCDS7018.2 9q34 2011-10-24 2007-12-18 ENSG00000184925 ENSG00000184925 286256 Lipocalins 28733 protein-coding gene gene with protein product 612905 NA 15363845 Standard NM_178536 XM_005266068 NA Approved MGC48935 uc004ckb.3 Q6JVE5 OTTHUMG00000020968 ENST00000371633.3:c.251+90T>C chr9.hg19:g.139847570T>C NA A2AMJ7 hg19 CCDS7018.2 0.02 4.389261 CCCxGTC COVERED NOVEL LCN12-015 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257990.1 1 3.979863 KEEP 0 2 65 36 1122 TT 1 0.999999 0 + 8 60 272 0 0 18.177133 115 60 4034 171 ENST00000371633.3 0.065041 0.999999 LCN12 286256 __UNKNOWN__ __UNKNOWN__ 9 139848273 139848273 __UNKNOWN__ Intron SNP A A G rs2271869 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:139848273A>G ENST00000371633.3 + 4 331 LCN12_ENST00000466277.1_3'UTR NM_178536.3 NP_848631.2 Q6JVE5 LCN12_HUMAN lipocalin 12 NA NA lipid metabolic process (GO:0006629) extracellular region (GO:0005576) retinoic acid binding (GO:0001972)|transporter activity (GO:0005215) endometrium(1)|kidney(1)|lung(1)|prostate(2) 5 all_cancers(76;0.11) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.19) OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106) GCTGGCCCACAGGGATGTGAC 0.657 NA A||| 3014 0.601837 0.6815 0.4049 5008 , , NA 17366 0.8373 NA 0.4374 False NA ,,, NA NA NA 2504 0.5603 NA NA NA NA 0 A 2505,1623 789,927,348 30 36 34 -0.9 0 9 dbSNP_100 34 3643,4729 815,2013,1358 no intron LCN12 NM_178536.3 1604,2940,1706 GG,GA,AA 43.5141,39.3169,49.184 139848273 6148,6352 2064 4186 6250 SO:0001627 intron_variant BC041168 CCDS7018.2 9q34 2011-10-24 2007-12-18 ENSG00000184925 ENSG00000184925 286256 Lipocalins 28733 protein-coding gene gene with protein product 612905 NA 15363845 Standard NM_178536 XM_005266068 NA Approved MGC48935 uc004ckb.3 Q6JVE5 OTTHUMG00000020968 ENST00000371633.3:c.332-27A>G chr9.hg19:g.139848273A>G NA A2AMJ7 hg19 CCDS7018.2 0.02 6.129491 CACxGGG COVERED NOVEL LCN12-015 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257990.1 2 13.873641 KEEP 0 1 34 58 1780 AA 1 1 0 + 8 60 269 0 0 16.617318 167 60 6106 281 ENST00000371633.3 0.045714 1 LCN12 286256 __UNKNOWN__ __UNKNOWN__ 9 139848278 139848278 __UNKNOWN__ Intron SNP T T C rs2271868 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:139848278T>C ENST00000371633.3 + 4 331 LCN12_ENST00000466277.1_3'UTR NM_178536.3 NP_848631.2 Q6JVE5 LCN12_HUMAN lipocalin 12 NA NA lipid metabolic process (GO:0006629) extracellular region (GO:0005576) retinoic acid binding (GO:0001972)|transporter activity (GO:0005215) endometrium(1)|kidney(1)|lung(1)|prostate(2) 5 all_cancers(76;0.11) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.19) OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106) CCCACAGGGATGTGACGTCTG 0.657 NA C||| 3068 0.61262 0.7194 0.4092 5008 , , NA 17135 0.8373 NA 0.4384 False NA ,,, NA NA NA 2504 0.5603 NA NA NA NA 0 C 2798,1350 977,844,253 30 37 35 -1.7 0 9 dbSNP_100 35 3740,4640 855,2030,1305 no intron LCN12 NM_178536.3 1832,2874,1558 CC,CT,TT 44.6301,32.5458,47.8129 139848278 6538,5990 2074 4190 6264 SO:0001627 intron_variant BC041168 CCDS7018.2 9q34 2011-10-24 2007-12-18 ENSG00000184925 ENSG00000184925 286256 Lipocalins 28733 protein-coding gene gene with protein product 612905 NA 15363845 Standard NM_178536 XM_005266068 NA Approved MGC48935 uc004ckb.3 Q6JVE5 OTTHUMG00000020968 ENST00000371633.3:c.332-22T>C chr9.hg19:g.139848278T>C NA A2AMJ7 hg19 CCDS7018.2 0.02 5.900878 GGAxGTG COVERED NOVEL LCN12-015 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257990.1 1 13.371778 KEEP 0 1 36 57 1692 TT 1 1 0 + 8 60 264 0 0 16.285294 159 60 5623 272 ENST00000371633.3 0.047904 1 LCN12 286256 __UNKNOWN__ __UNKNOWN__ 9 139848688 139848688 __UNKNOWN__ Silent SNP C C T rs4880175 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:139848688C>T ENST00000371633.3 + 5 531 c.531C>T c.(529-531)atC>atT p.I177I LCN12_ENST00000466277.1_3'UTR NM_178536.3 NP_848631.2 Q6JVE5 LCN12_HUMAN lipocalin 12 177 NA lipid metabolic process (GO:0006629) extracellular region (GO:0005576) retinoic acid binding (GO:0001972)|transporter activity (GO:0005215) endometrium(1)|kidney(1)|lung(1)|prostate(2) 5 all_cancers(76;0.11) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.19) OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106) ATGACAACATCGTCTTCCCAG 0.622 NA T||| 3752 0.749201 0.8646 0.5807 5008 , , NA 15124 0.8641 NA 0.6869 False NA ,,, NA NA NA 2504 0.6585 NA NA NA NA 0 T 3467,619 1478,511,54 23 26 25 531 -4.2 0 9 dbSNP_111 25 5763,2623 2029,1705,459 no coding-synonymous LCN12 NM_178536.3 3507,2216,513 TT,TC,CC 31.2783,15.1493,25.9942 177/193 139848688 9230,3242 2043 4193 6236 SO:0001819 synonymous_variant BC041168 CCDS7018.2 9q34 2011-10-24 2007-12-18 ENSG00000184925 ENSG00000184925 286256 Lipocalins 28733 protein-coding gene gene with protein product 612905 NA 15363845 Standard NM_178536 XM_005266068 NA Approved MGC48935 uc004ckb.3 Q6JVE5 OTTHUMG00000020968 ENST00000371633.3:c.531C>T chr9.hg19:g.139848688C>T NA A2AMJ7 hg19 CCDS7018.2 0.02 13.384664 CATxGTC COVERED 1631 0.7467948717948718 404 0.8211382113821138 216 0.5966850828729282 486 0.8496503496503497 525 0.6926121372031663 T 6.665 0.491255 0.12702 0.848507 0.687217 ENSG00000184925 ENST00000371632 . . . 2.75 -4.2 0.03823 . . . . . T 0.00012 0.0000 . . . 0.58432 P 5.000000000032756E-6 . . . . . . T 0.22765 -1.0207 4 0.87932 D 0 -12.4307 6.4504 0.21900 0.0:0.367:0.1289:0.5041 rs4880175;rs13286062;rs17846306;rs17859331;rs57156148 . . . L 86 . ENSP00000360695:S86L S + 2 0 LCN12 138968509 0.000000 0.05858 0.000000 0.03702 0.089000 0.18198 -0.711000 0.05019 -1.562000 0.01682 -0.893000 0.02921 TCG NOVEL LCN12-015 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257990.1 2 17.12385 KEEP 0 2 63 79 2694 CC 1 1 0 + 12 60 425 0 0 25.995039 312 60 11236 518 ENST00000371633.3 0.037037 1 ABCA2 20 __UNKNOWN__ __UNKNOWN__ 9 139907147 139907147 __UNKNOWN__ Intron SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:139907147C>T ENST00000341511.6 - 31 5131 ABCA2_ENST00000265662.5_Intron|ABCA2_ENST00000371605.3_Intron NM_001606.4|NM_212533.2 NP_001597|NP_997698.1 Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A (ABC1), member 2 NA NA ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810) ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166) central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 41 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) CACCCACAGCCTCCCCACCCA 0.657 NA NA NA NA NA NA NA NA NA NA NA 0 29 36 34 NA NA 9 NA 139907147 2056 4190 6246 SO:0001627 intron_variant U18235 CCDS43909.1 9q34 2012-03-14 ENSG00000107331 ENSG00000107331 20 ATP binding cassette transporters / subfamily A 32 protein-coding gene gene with protein product 600047 ABC2 NA 8088782 Standard NM_001606 NM_212533 NA Approved uc022bpy.1 Q9BZC7 OTTHUMG00000020958 ENST00000341511.6:c.5081+16G>A chr9.hg19:g.139907147C>T NA A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28 hg19 CCDS43909.1 0.02 8.642354 AGCxTCC COVERED NOVEL ABCA2-002 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000055199.2 2 14.748209 KEEP 0 0 0 49 1762 CC 1 1 0 - 14 60 508 0 0 34.604648 215 60 7951 351 ENST00000341511.6 0.061135 1 C9orf139 401563 __UNKNOWN__ __UNKNOWN__ 9 139929015 139929015 __UNKNOWN__ Intron SNP C C G rs9411293 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:139929015C>G ENST00000314330.2 + 3 1682 NM_207511.1 NP_997394.1 Q6ZV77 CI139_HUMAN chromosome 9 open reading frame 139 NA NA cervix(1)|lung(2) 3 all_cancers(76;0.0893) Myeloproliferative disorder(178;0.0821) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493) TAATCCCACCCCAGCGTTCCT 0.652 NA c||| 1273 0.254193 0.1513 0.3818 5008 , , NA 10606 0.2351 NA 0.339 False NA ,,, NA NA NA 2504 0.2352 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS7023.1 9q34.3 2008-02-05 ENSG00000180539 ENSG00000180539 401563 31426 protein-coding gene gene with protein product NA Standard NM_207511 NM_207511 NA Approved FLJ36268, FLJ42909 uc004ckp.1 Q6ZV77 OTTHUMG00000020959 ENST00000314330.2:c.169-87C>G chr9.hg19:g.139929015C>G NA A2RUA3|B9EGW2|Q5SPY0|Q8N224 hg19 CCDS7023.1 0.02 1.760541 ACCxCAG COVERED NOVEL C9orf139-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055213.2 1 4.814818 KEEP 0 0 0 16 527 CC 0.997832 0.99732 0 + 8 60 240 0 0 16.494694 75 60 2691 101 ENST00000314330.2 0.096386 0.999487 C9orf139 401563 __UNKNOWN__ __UNKNOWN__ 9 139929080 139929080 __UNKNOWN__ Intron SNP C C T rs41317014 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:139929080C>T ENST00000314330.2 + 3 1682 NM_207511.1 NP_997394.1 Q6ZV77 CI139_HUMAN chromosome 9 open reading frame 139 NA NA cervix(1)|lung(2) 3 all_cancers(76;0.0893) Myeloproliferative disorder(178;0.0821) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493) TCACACCACCCCATCTCTTCT 0.657 NA c||| 853 0.170327 0.0113 0.2882 5008 , , NA 10762 0.2044 NA 0.2376 False NA ,,, NA NA NA 2504 0.1973 NA NA NA NA 0 195,4095 7,181,1957 44 54 50 0.1 0 9 dbSNP_127 50 1802,6598 182,1438,2580 no intron C9orf139 NM_207511.1 189,1619,4537 TT,TC,CC 21.4524,4.5455,15.7368 139929080 1997,10693 2145 4200 6345 SO:0001627 intron_variant CCDS7023.1 9q34.3 2008-02-05 ENSG00000180539 ENSG00000180539 401563 31426 protein-coding gene gene with protein product NA Standard NM_207511 NM_207511 NA Approved FLJ36268, FLJ42909 uc004ckp.1 Q6ZV77 OTTHUMG00000020959 ENST00000314330.2:c.169-22C>T chr9.hg19:g.139929080C>T NA A2RUA3|B9EGW2|Q5SPY0|Q8N224 hg19 CCDS7023.1 0.02 7.302945 ACCxCAT COVERED NOVEL C9orf139-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055213.2 2 23.475756 KEEP 0 0 0 78 2743 CC 1 1 0 + 16 60 603 0 0 45.583077 139 60 5191 306 ENST00000314330.2 0.103226 1 C9orf139 401563 __UNKNOWN__ __UNKNOWN__ 9 139929934 139929934 __UNKNOWN__ 3'UTR SNP G G T rs4880193 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:139929934G>T ENST00000314330.2 + 0 2515 NM_207511.1 NP_997394.1 Q6ZV77 CI139_HUMAN chromosome 9 open reading frame 139 NA NA cervix(1)|lung(2) 3 all_cancers(76;0.0893) Myeloproliferative disorder(178;0.0821) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493) AGTAACAGGTGGAGCTGGGGG 0.632 NA OREG0019626 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) G||| 1287 0.256989 0.1626 0.3804 5008 , , NA 18192 0.2361 NA 0.337 False NA ,,, NA NA NA 2504 0.2362 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS7023.1 9q34.3 2008-02-05 ENSG00000180539 ENSG00000180539 401563 31426 protein-coding gene gene with protein product NA Standard NM_207511 NM_207511 NA Approved FLJ36268, FLJ42909 uc004ckp.1 Q6ZV77 OTTHUMG00000020959 ENST00000314330.2:c.*428G>T chr9.hg19:g.139929934G>T 1652 A2RUA3|B9EGW2|Q5SPY0|Q8N224 hg19 CCDS7023.1 0.02 11.278167 GGTxGAG COVERED NOVEL C9orf139-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055213.2 2 17.456305 KEEP 0 0 0 58 2045 GG 1 1 0 + 34 60 1202 0 0 90.82355 258 60 9476 417 ENST00000314330.2 0.116438 1 NPDC1 56654 __UNKNOWN__ __UNKNOWN__ 9 139934020 139934020 __UNKNOWN__ 3'UTR SNP G G A rs6605 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:139934020G>A ENST00000371601.4 - 0 1395 NPDC1_ENST00000371600.3_3'UTR NM_015392.3 NP_056207.3 Q9NQX5 NPDC1_HUMAN neural proliferation, differentiation and control, 1 NA NA integral component of membrane (GO:0016021) NS(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1) 5 all_cancers(76;0.0926) Myeloproliferative disorder(178;0.0821) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486) GGTCTAAACCGAACAGGAGAG 0.592 NA G||| 869 0.173522 0.0113 0.2882 5008 , , NA 16882 0.2113 NA 0.2386 False NA ,,, NA NA NA 2504 0.2055 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF285836 CCDS7024.1 9q34.3 2008-07-21 ENSG00000107281 ENSG00000107281 56654 7899 protein-coding gene gene with protein product 605798 NA 11245976 Standard NM_015392 NM_015392 NA Approved DKFZp586J0523, CAB-, CAB1 uc004ckt.2 Q9NQX5 OTTHUMG00000020956 ENST00000371601.4:c.*204C>T chr9.hg19:g.139934020G>A NA Q5SPY8|Q9BTD6|Q9BXT3|Q9NQS2|Q9Y434 hg19 CCDS7024.1 0.02 7.020658 ACCxAAC COVERED NOVEL NPDC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055182.1 2 10.532749 KEEP 0 0 0 35 1179 GG 0.999999 0.999999 0 - 9 60 336 0 0 23.032765 144 60 5121 221 ENST00000371601.4 0.058824 1 NPDC1 56654 __UNKNOWN__ __UNKNOWN__ 9 139934107 139934107 __UNKNOWN__ 3'UTR SNP G G A rs11438|rs6604 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:139934107G>A ENST00000371601.4 - 0 1308 NPDC1_ENST00000371600.3_3'UTR NM_015392.3 NP_056207.3 Q9NQX5 NPDC1_HUMAN neural proliferation, differentiation and control, 1 NA NA integral component of membrane (GO:0016021) NS(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1) 5 all_cancers(76;0.0926) Myeloproliferative disorder(178;0.0821) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486) CCTGGAGCCCGAGGCCCAGCC 0.657 NA G||| 1160 0.231629 0.1051 0.3501 5008 , , NA 15559 0.248 NA 0.3012 False NA ,,, NA NA NA 2504 0.2301 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF285836 CCDS7024.1 9q34.3 2008-07-21 ENSG00000107281 ENSG00000107281 56654 7899 protein-coding gene gene with protein product 605798 NA 11245976 Standard NM_015392 NM_015392 NA Approved DKFZp586J0523, CAB-, CAB1 uc004ckt.2 Q9NQX5 OTTHUMG00000020956 ENST00000371601.4:c.*117C>T chr9.hg19:g.139934107G>A NA Q5SPY8|Q9BTD6|Q9BXT3|Q9NQS2|Q9Y434 hg19 CCDS7024.1 0.02 8.074389 CCCxAGG COVERED NOVEL NPDC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055182.1 3 12.337751 KEEP 0 0 0 41 1373 GG 1 1 0 - 9 60 308 0 0 19.114233 194 60 6623 293 ENST00000371601.4 0.044335 1 NPDC1 56654 __UNKNOWN__ __UNKNOWN__ 9 139934907 139934907 __UNKNOWN__ Intron SNP G G A rs9411298 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:139934907G>A ENST00000371601.4 - 7 922 NPDC1_ENST00000371600.3_Intron NM_015392.3 NP_056207.3 Q9NQX5 NPDC1_HUMAN neural proliferation, differentiation and control, 1 NA NA integral component of membrane (GO:0016021) NS(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1) 5 all_cancers(76;0.0926) Myeloproliferative disorder(178;0.0821) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486) AGGAGGAGGCGAGGGTCAGTT 0.672 NA g||| 836 0.166933 0.0613 0.2133 5008 , , NA 9320 0.2093 NA 0.2117 False NA ,,, NA NA NA 2504 0.1871 NA NA NA NA 0 417,3875 21,375,1750 24 25 25 -1.8 0 9 dbSNP_119 25 1704,6798 167,1370,2714 no intron NPDC1 NM_015392.3 188,1745,4464 AA,AG,GG 20.0423,9.7158,16.5781 139934907 2121,10673 2146 4251 6397 SO:0001627 intron_variant AF285836 CCDS7024.1 9q34.3 2008-07-21 ENSG00000107281 ENSG00000107281 56654 7899 protein-coding gene gene with protein product 605798 NA 11245976 Standard NM_015392 NM_015392 NA Approved DKFZp586J0523, CAB-, CAB1 uc004ckt.2 Q9NQX5 OTTHUMG00000020956 ENST00000371601.4:c.709-19C>T chr9.hg19:g.139934907G>A NA Q5SPY8|Q9BTD6|Q9BXT3|Q9NQS2|Q9Y434 hg19 CCDS7024.1 0.02 1.880815 GGCxAGG COVERED NOVEL NPDC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055182.1 1 10.532658 KEEP 0 0 0 35 1191 GG 0.999999 0.999879 0 - 9 60 322 0 0 23.701334 83 60 2747 159 ENST00000371601.4 0.097826 0.999881 ENTPD2 954 __UNKNOWN__ __UNKNOWN__ 9 139943112 139943112 __UNKNOWN__ Silent SNP A A G rs17853460 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:139943112A>G ENST00000355097.2 - 9 1532 c.1485T>C c.(1483-1485)atT>atC p.I495I ENTPD2_ENST00000312665.5_Silent_p.I472I|ENTPD2_ENST00000460614.1_5'UTR NM_001246.3|NM_203468.2 NP_001237.1|NP_982293.1 Q9Y5L3 ENTP2_HUMAN ectonucleoside triphosphate diphosphohydrolase 2 495 NA G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181) basal lamina (GO:0005605)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111) endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3) 12 all_cancers(76;0.0926) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) TCGGCCCCTAAATGGTGCTTG 0.682 NA A||| 1152 0.230032 0.0855 0.3156 5008 , , NA 5420 0.3522 NA 0.2266 False NA ,,, NA NA NA 2504 0.2423 NA NA NA NA 0 A , 512,3836 40,432,1702 12 12 12 1416,1485 2.7 0.1 9 dbSNP_123 12 1832,6718 191,1450,2634 no coding-synonymous,coding-synonymous ENTPD2 NM_001246.2,NM_203468.1 , 231,1882,4336 GG,GA,AA 21.4269,11.7755,18.1734 , 472/473,495/496 139943112 2344,10554 2174 4275 6449 SO:0001819 synonymous_variant U91510 CCDS7025.1, CCDS7026.1 9q34 2008-07-21 ENSG00000054179 ENSG00000054179 954 3364 protein-coding gene gene with protein product CD39-like-1, ecto-ATPase 602012 CD39L1 NA 9271669 Standard NM_203468 NM_203468 NA Approved NTPDase-2 uc004ckw.2 Q9Y5L3 OTTHUMG00000020953 ENST00000355097.2:c.1485T>C chr9.hg19:g.139943112A>G NA O15464|Q5SPY6|Q5SPY7 hg19 CCDS7026.1 0.02 4.684762 CTAxATG COVERED NOVEL ENTPD2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055169.1 0 13.538858 KEEP 0 0 0 45 1405 AA 1 0.999995 0 - 10 60 384 0 0 28.502696 103 60 3518 174 ENST00000355097.2 0.088496 0.999995 ENTPD2 954 __UNKNOWN__ __UNKNOWN__ 9 139945363 139945363 __UNKNOWN__ Silent SNP G G A rs2292925 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:139945363G>A ENST00000355097.2 - 5 812 c.765C>T c.(763-765)agC>agT p.S255S ENTPD2_ENST00000312665.5_Silent_p.S255S NM_001246.3|NM_203468.2 NP_001237.1|NP_982293.1 Q9Y5L3 ENTP2_HUMAN ectonucleoside triphosphate diphosphohydrolase 2 255 NA G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181) basal lamina (GO:0005605)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111) endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3) 12 all_cancers(76;0.0926) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) CCTGGAGGGCGCTGGCCAGCA 0.647 NA G||| 1097 0.21905 0.0507 0.317 5008 , , NA 14884 0.3472 NA 0.2247 False NA ,,, NA NA NA 2504 0.2393 NA NA NA NA 0 G , 386,4008 188.1+/-214.6 18,350,1829 47 39 42 765,765 -1.4 0.1 9 dbSNP_100 42 1938,6656 337.7+/-322.4 209,1520,2568 no coding-synonymous,coding-synonymous ENTPD2 NM_001246.2,NM_203468.1 , 227,1870,4397 AA,AG,GG 22.5506,8.7847,17.8934 , 255/473,255/496 139945363 2324,10664 2197 4297 6494 SO:0001819 synonymous_variant U91510 CCDS7025.1, CCDS7026.1 9q34 2008-07-21 ENSG00000054179 ENSG00000054179 954 3364 protein-coding gene gene with protein product CD39-like-1, ecto-ATPase 602012 CD39L1 NA 9271669 Standard NM_203468 NM_203468 NA Approved NTPDase-2 uc004ckw.2 Q9Y5L3 OTTHUMG00000020953 ENST00000355097.2:c.765C>T chr9.hg19:g.139945363G>A NA O15464|Q5SPY6|Q5SPY7 hg19 CCDS7026.1 0.02 4.176005 GGCxCTG COVERED NOVEL ENTPD2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055169.1 1 9.328669 KEEP 0 0 0 31 1031 GG 0.999997 0.999993 0 - 14 60 488 0 0 37.044389 100 60 3359 172 ENST00000355097.2 0.122807 0.999996 UAP1L1 91373 __UNKNOWN__ __UNKNOWN__ 9 139978652 139978652 __UNKNOWN__ 3'UTR SNP T T G rs145985948 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:139978652T>G ENST00000409858.3 + 0 3027 UAP1L1_ENST00000360271.3_3'UTR NM_207309.2 NP_997192.2 Q3KQV9 UAP1L_HUMAN UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 NA NA uridylyltransferase activity (GO:0070569) kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 8 all_cancers(76;0.0926) Myeloproliferative disorder(178;0.0821) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486) AAGtctttttttttgtttgtt 0.512 NA T||| 21 0.00419329 0.0038 0.0014 5008 , , NA 16030 0.0149 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK022632 CCDS7028.2 9q34.3 2014-07-31 2014-07-31 ENSG00000197355 ENSG00000197355 91373 28082 protein-coding gene gene with protein product NA Standard XM_038063 NM_207309 NA Approved uc010ncb.3 Q3KQV9 OTTHUMG00000020962 ENST00000409858.3:c.*1471T>G chr9.hg19:g.139978652T>G NA A2AMJ8|Q5SPZ2|Q69YQ3|Q6ZR38 hg19 CCDS7028.2 0.02 4.566438 TTTxTTT COVERED NOVEL UAP1L1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055216.2 1 6.319537 KEEP 0 0 0 21 674 TT 0.999869 0.999866 0 + 7 60 254 0 0 17.328429 107 60 3806 143 ENST00000409858.3 0.061404 0.999997 MAN1B1 11253 __UNKNOWN__ __UNKNOWN__ 9 139997541 139997541 __UNKNOWN__ Intron SNP G G A rs112370753 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:139997541G>A ENST00000371589.4 + 8 1327 MAN1B1_ENST00000474902.1_Intron NM_016219.4 NP_057303.2 Q9UKM7 MA1B1_HUMAN mannosidase, alpha, class 1B, member 1 NA NA cellular protein metabolic process (GO:0044267)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum quality control compartment (GO:0044322)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982) calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571) autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2) 14 all_cancers(76;0.0926) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513) ACTTGCAGGCGTGCAGGTCGG 0.537 NA -||| 1 0.000199681 0.0008 0.0 5008 , , NA 27775 0.0 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF145732 CCDS7029.1 9q34.3 2014-05-27 ENSG00000177239 ENSG00000177239 11253 6823 protein-coding gene gene with protein product endoplasmic reticulum alpha-mannosidase 1, alpha 1,2-mannosidase, endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1, ER alpha 1,2-mannosidase, Man9GlcNAc2-specific processing alpha-mannosidase 604346 NA 10409699, 10521544 Standard NM_016219 NM_016219 NA Approved MANA-ER, MRT15 uc004cld.3 Q9UKM7 OTTHUMG00000020978 ENST00000371589.4:c.1254+1417G>A chr9.hg19:g.139997541G>A NA Q5VSG3|Q9BRS9|Q9Y5K7 hg19 CCDS7029.1 0.02 31.097568 GGCxTGC COVERED NOVEL MAN1B1-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055294.2 190 18.245814 KEEP 42 17 480 230 7793 GG 1 1 0 + 55 60 1854 0 0 129.774363 602 70 20645 1302 ENST00000371589.4 0.083714 1 MAN1B1 11253 __UNKNOWN__ __UNKNOWN__ 9 140001036 140001036 __UNKNOWN__ Intron SNP C C T rs7467333 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:140001036C>T ENST00000371589.4 + 10 1518 MAN1B1_ENST00000474902.1_Intron|MAN1B1_ENST00000540391.1_Intron NM_016219.4 NP_057303.2 Q9UKM7 MA1B1_HUMAN mannosidase, alpha, class 1B, member 1 NA NA cellular protein metabolic process (GO:0044267)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum quality control compartment (GO:0044322)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982) calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571) autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2) 14 all_cancers(76;0.0926) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513) CCGGCAAGGGCCAGGCCTGCT 0.642 NA C||| 18 0.00359425 0.0008 0.0014 5008 , , NA 14499 0.0159 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF145732 CCDS7029.1 9q34.3 2014-05-27 ENSG00000177239 ENSG00000177239 11253 6823 protein-coding gene gene with protein product endoplasmic reticulum alpha-mannosidase 1, alpha 1,2-mannosidase, endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1, ER alpha 1,2-mannosidase, Man9GlcNAc2-specific processing alpha-mannosidase 604346 NA 10409699, 10521544 Standard NM_016219 NM_016219 NA Approved MANA-ER, MRT15 uc004cld.3 Q9UKM7 OTTHUMG00000020978 ENST00000371589.4:c.1446-105C>T chr9.hg19:g.140001036C>T NA Q5VSG3|Q9BRS9|Q9Y5K7 hg19 CCDS7029.1 0.02 2.035407 GGGxCAG COVERED NOVEL MAN1B1-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055294.2 0 2.708796 KEEP 0 0 0 9 313 CC 0.99254 0.985519 0 + 6 60 190 0 0 13.319567 56 60 2032 74 ENST00000371589.4 0.096774 0.992926 ANAPC2 29882 __UNKNOWN__ __UNKNOWN__ 9 140079522 140079522 __UNKNOWN__ Silent SNP G G A rs11549106 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:140079522G>A ENST00000323927.2 - 4 895 c.891C>T c.(889-891)gtC>gtT p.V297V NM_013366.3 NP_037498.1 Q9UJX6 ANC2_HUMAN anaphase promoting complex subunit 2 297 NA anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439) anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654) breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858) CGAGCCAGCCGACCACCCGCT 0.697 NA G||| 927 0.185104 0.1657 0.1268 5008 , , NA 14730 0.0417 NA 0.2425 False NA ,,, NA NA NA 2504 0.3415 NA NA NA NA 0 G 648,3478 70,508,1485 14 12 13 891 -6.3 1 9 dbSNP_120 13 1925,6183 246,1433,2375 no coding-synonymous ANAPC2 NM_013366.3 316,1941,3860 AA,AG,GG 23.742,15.7053,21.0316 297/823 140079522 2573,9661 2063 4054 6117 SO:0001819 synonymous_variant AB037827 CCDS7033.1 9q34.3 2011-06-15 ENSG00000176248 ENSG00000176248 29882 Anaphase promoting complex subunits 19989 protein-coding gene gene with protein product 606946 NA 11739784 Standard NM_013366 NM_013366 NA Approved APC2, KIAA1406 uc004clr.1 Q9UJX6 OTTHUMG00000020983 ENST00000323927.2:c.891C>T chr9.hg19:g.140079522G>A NA Q5VSG1|Q96DG5|Q96GG4|Q9P2E1 hg19 CCDS7033.1 0.02 10.005553 GCCxACC COVERED NOVEL ANAPC2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055315.1 1 35.209223 KEEP 0 0 0 117 3841 GG 1 1 0 - 13 60 433 0 0 26.99577 254 60 8454 489 ENST00000323927.2 0.048689 1 SSNA1 8636 __UNKNOWN__ __UNKNOWN__ 9 140084376 140084376 __UNKNOWN__ 3'UTR SNP G G A rs11556580 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:140084376G>A ENST00000322310.5 + 0 450 SSNA1_ENST00000459860.1_3'UTR NM_003731.2 NP_003722.2 O43805 SSNA1_HUMAN Sjogren syndrome nuclear autoantigen 1 NA NA ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport (GO:0042073)|mitotic cell cycle (GO:0000278) centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|nucleus (GO:0005634) breast(2)|kidney(1)|large_intestine(1)|lung(2) 6 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.43e-05)|Epithelial(140;0.00087) ACCAGACCACGGGCAGGGCCT 0.602 NA G||| 968 0.193291 0.2005 0.1254 5008 , , NA 17623 0.0417 NA 0.2416 False NA ,,, NA NA NA 2504 0.3384 NA NA NA NA 0 G 858,3544 327.2+/-299.9 83,692,1426 33 34 34 -1.6 0 9 dbSNP_120 34 2229,6369 367.0+/-334.5 274,1681,2344 no utr-3 SSNA1 NM_003731.2 357,2373,3770 AA,AG,GG 25.9246,19.4911,23.7462 140084376 3087,9913 2201 4299 6500 SO:0001624 3_prime_UTR_variant Z96932 CCDS7034.1 9q34.3 2008-02-05 2007-10-04 ENSG00000176101 ENSG00000176101 8636 11321 protein-coding gene gene with protein product 610882 Sjogren's syndrome nuclear autoantigen 1 NA 9430706 Standard NM_003731 NM_003731 NA Approved NA14, N14 uc004cls.2 O43805 OTTHUMG00000020982 ENST00000322310.5:c.*10G>A chr9.hg19:g.140084376G>A NA Q5VSG0|Q6FG70|Q9BVW8 hg19 CCDS7034.1 0.02 10.762533 CACxGGC COVERED NOVEL SSNA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055311.1 2 49.655999 KEEP 0 0 0 165 5639 GG 1 1 0 + 13 60 470 0 0 30.095889 281 60 9741 620 ENST00000322310.5 0.044218 1 TPRN 286262 __UNKNOWN__ __UNKNOWN__ 9 140095436 140095436 __UNKNOWN__ Intron SNP C C A rs66708191 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:140095436C>A ENST00000541945.1 - 1 90 Q4KMQ1 TPRN_HUMAN taperin NA NA sensory perception of sound (GO:0007605) stereocilium (GO:0032420) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2) 8 CCATTGGGGACGGCCCCCCGG 0.677 NA A||| 1314 0.26238 0.379 0.1599 5008 , , NA 13544 0.0804 NA 0.2624 False NA ,,, NA NA NA 2504 0.365 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK074735 CCDS56594.1 9q34.3 2011-01-06 2010-03-24 2010-03-24 ENSG00000176058 ENSG00000176058 286262 26894 protein-coding gene gene with protein product 613354 chromosome 9 open reading frame 75, deafness, autosomal recessive 79 C9orf75, DFNB79 NA 20170898, 20170899 Standard NM_173691 NM_001128228 NA Approved FLJ90254 uc004clu.3 Q4KMQ1 OTTHUMG00000020984 ENST00000541945.1:c.40+3119G>T chr9.hg19:g.140095436C>A NA B7ZKU5|Q5VSG5|Q5VSG6|Q6IPP2|Q8NCH2 hg19 0.02 10.788293 GGAxGGC COVERED NOVEL TPRN-004 KNOWN basic processed_transcript NA protein_coding OTTHUMT00000396803.1 0 11.735858 KEEP 0 0 0 39 1288 CC 1 1 0 - 17 60 621 0 0 42.094406 274 60 8728 350 ENST00000541945.1 0.058419 1 NDOR1 27158 __UNKNOWN__ __UNKNOWN__ 9 140100224 140100224 __UNKNOWN__ 5'UTR SNP A A G rs7032361 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:140100224A>G ENST00000344894.5 + 0 78 NDOR1_ENST00000371521.4_5'UTR|NDOR1_ENST00000427047.2_5'UTR|NDOR1_ENST00000458322.2_5'UTR NM_001144028.1|NM_014434.2 NP_001137500.1|NP_055249.1 NADPH dependent diflavin oxidoreductase 1 NA NA breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057) CACCGGGCGCACCCCGATGCC 0.692 NA G||| 1800 0.359425 0.41 0.2954 5008 , , NA 12862 0.3065 NA 0.3658 False NA ,,, NA NA NA 2504 0.3845 NA NA NA NA 0 G ,,, 1662,2674 352,958,858 29 36 34 ,,, -4.8 0 9 dbSNP_116 34 2938,5524 554,1830,1847 no utr-5,utr-5,utr-5,utr-5 NDOR1 NM_001144026.1,NM_001144027.1,NM_001144028.1,NM_014434.2 ,,, 906,2788,2705 GG,GA,AA 34.7199,38.3303,35.9431 ,,, ,,, 140100224 4600,8198 2168 4231 6399 SO:0001623 5_prime_UTR_variant BC015735 CCDS7036.1, CCDS48061.1, CCDS48062.1, CCDS48063.1 9q34.3 2008-02-05 ENSG00000188566 ENSG00000188566 27158 29838 protein-coding gene gene with protein product NADPH dependent FMN and FAD containing oxidoreductase 606073 NA 10625700, 12631275 Standard NM_014434 XM_005266066 NA Approved NR1, bA350O14.9 uc004clx.3 Q9UHB4 OTTHUMG00000020986 ENST00000344894.5:c.-6A>G chr9.hg19:g.140100224A>G NA hg19 CCDS7036.1 0.02 9.138201 CGCxCCC COVERED NOVEL NDOR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254704.1 1 36.867956 KEEP 0 2 70 147 4365 AA 1 1 0 + 8 60 287 0 0 17.823546 199 60 6544 479 ENST00000344894.5 0.038647 1 NDOR1 27158 __UNKNOWN__ __UNKNOWN__ 9 140108629 140108629 __UNKNOWN__ Intron SNP T T A rs77510769 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:140108629T>A ENST00000344894.5 + 6 595 NDOR1_ENST00000371521.4_Intron|NDOR1_ENST00000427047.2_Intron|NDOR1_ENST00000458322.2_Intron NM_001144028.1|NM_014434.2 NP_001137500.1|NP_055249.1 NADPH dependent diflavin oxidoreductase 1 NA NA breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057) GAGTGGGTCCTGGTCTGACCA 0.716 NA T||| 102 0.0203674 0.0008 0.0014 5008 , , NA 14777 0.0843 NA 0.0 False NA ,,, NA NA NA 2504 0.0153 NA NA NA NA 0 T ,,, 4,4392 0,4,2194 27 19 22 ,,, -3 0 9 dbSNP_132 22 4,8582 0,4,4289 no intron,intron,intron,intron NDOR1 NM_001144026.1,NM_001144027.1,NM_001144028.1,NM_014434.2 ,,, 0,8,6483 AA,AT,TT 0.0466,0.091,0.0616 ,,, ,,, 140108629 8,12974 2198 4293 6491 SO:0001627 intron_variant BC015735 CCDS7036.1, CCDS48061.1, CCDS48062.1, CCDS48063.1 9q34.3 2008-02-05 ENSG00000188566 ENSG00000188566 27158 29838 protein-coding gene gene with protein product NADPH dependent FMN and FAD containing oxidoreductase 606073 NA 10625700, 12631275 Standard NM_014434 XM_005266066 NA Approved NR1, bA350O14.9 uc004clx.3 Q9UHB4 OTTHUMG00000020986 ENST00000344894.5:c.513-27T>A chr9.hg19:g.140108629T>A NA hg19 CCDS7036.1 0.02 4.039288 TCCxGGT COVERED NOVEL NDOR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254704.1 2 10.229613 KEEP 0 0 0 34 1045 TT 0.999998 0.999998 0 + 7 60 248 0 0 16.055333 134 60 4869 199 ENST00000344894.5 0.049645 1 NDOR1 27158 __UNKNOWN__ __UNKNOWN__ 9 140108868 140108868 __UNKNOWN__ Intron SNP G G A rs117858988 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:140108868G>A ENST00000344894.5 + 6 805 NDOR1_ENST00000371521.4_Intron|NDOR1_ENST00000427047.2_Intron|NDOR1_ENST00000458322.2_Intron NM_001144028.1|NM_014434.2 NP_001137500.1|NP_055249.1 NADPH dependent diflavin oxidoreductase 1 NA NA breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057) GGCATCAGGTGGGGACTGCTG 0.637 NA G||| 102 0.0203674 0.0008 0.0014 5008 , , NA 15766 0.0843 NA 0.0 False NA ,,, NA NA NA 2504 0.0153 NA NA NA NA 0 G ,,, 4,4402 8.1+/-20.4 0,4,2199 74 75 75 ,,, 2.7 0.5 9 dbSNP_132 75 7,8593 5.0+/-18.6 0,7,4293 no intron,intron,intron,intron NDOR1 NM_001144026.1,NM_001144027.1,NM_001144028.1,NM_014434.2 ,,, 0,11,6492 AA,AG,GG 0.0814,0.0908,0.0846 ,,, ,,, 140108868 11,12995 2203 4300 6503 SO:0001627 intron_variant BC015735 CCDS7036.1, CCDS48061.1, CCDS48062.1, CCDS48063.1 9q34.3 2008-02-05 ENSG00000188566 ENSG00000188566 27158 29838 protein-coding gene gene with protein product NADPH dependent FMN and FAD containing oxidoreductase 606073 NA 10625700, 12631275 Standard NM_014434 XM_005266066 NA Approved NR1, bA350O14.9 uc004clx.3 Q9UHB4 OTTHUMG00000020986 ENST00000344894.5:c.722+3G>A chr9.hg19:g.140108868G>A NA hg19 CCDS7036.1 0.02 8.442871 GGTxGGG COVERED NOVEL NDOR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254704.1 0 17.755969 KEEP 0 0 0 59 2004 GG 1 1 0 + 11 60 396 0 0 25.694712 218 70 8028 329 ENST00000344894.5 0.048035 1 RNF224 643596 __UNKNOWN__ __UNKNOWN__ 9 140123132 140123132 __UNKNOWN__ Missense_Mutation SNP C C G rs6606565 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:140123132C>G ENST00000445101.2 + 3 545 c.65C>G c.(64-66)aCa>aGa p.T22R NM_001190228.1 NP_001177157.1 P0DH78 RN224_HUMAN ring finger protein 224 22 NA zinc ion binding (GO:0008270) NA GAGGAGAGGACAGACTGCATC 0.701 NA G||| 2340 0.467252 0.4554 0.464 5008 , , NA 13879 0.6508 NA 0.3072 False NA ,,, NA NA NA 2504 0.4611 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense BX255925 CCDS55356.1 9q34.3 2011-05-23 ENSG00000233198 ENSG00000233198 643596 RING-type (C3HC4) zinc fingers 41912 protein-coding gene gene with protein product NA Standard NM_001190228 NM_001190228 NA Approved uc022bqe.1 P0DH78 ENST00000445101.2:c.65C>G chr9.hg19:g.140123132C>G ENSP00000406665:p.Thr22Arg NA hg19 CCDS55356.1 0.02 2.144423 GGAxAGA COVERED 991 0.45375457875457875 249 0.5060975609756098 156 0.430939226519337 372 0.6503496503496503 214 0.28232189973614774 G 2.841 -0.240369 0.05944 . . ENSG00000233198 ENST00000445101 T 0.67698 -0.28 3.6 -1.53 0.08611 . . . . . T 0.00012 0.0000 N 0.02697 -0.525 0.80722 P 0.0 . . . . . . T 0.42050 -0.9474 6 0.52906 T 0.07 . 0.726 0.00949 0.3709:0.127:0.137:0.3651 rs6606565;rs28394813;rs58747527 . . . R 22 ENSP00000406665:T22R ENSP00000406665:T22R T + 2 0 RNF224 139242953 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -0.253000 0.08794 -0.474000 0.06862 -2.420000 0.00218 ACA NOVEL RNF224-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding 1 4.247463 KEEP 0 1 34 26 874 CC 0.999988 0.992082 0 + 4 60 136 0 0 9.073278 58 60 2068 113 ENST00000445101.2 0.064516 0.992094 SLC34A3 142680 __UNKNOWN__ __UNKNOWN__ 9 140128085 140128085 __UNKNOWN__ Splice_Site SNP T T C rs28407527 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:140128085T>C ENST00000538474.1 + 8 981 c.757T>C c.(757-759)Ttg>Ctg p.L253L SLC34A3_ENST00000361134.2_Splice_Site_p.L253L NM_001177316.1|NM_001177317.1 NP_001170787|NP_001170788 Q8N130 NPT2C_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 3 253 NA cellular phosphate ion homeostasis (GO:0030643)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085) apical plasma membrane (GO:0016324)|brush border (GO:0005903)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436) kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057) TGGCCCCCAGTTGGACTCCGA 0.672 NA T||| 2282 0.455671 0.3994 0.5807 5008 , , NA 12613 0.4673 NA 0.4046 False NA ,,, NA NA NA 2504 0.4836 NA NA NA NA 0 T ,, 1795,2611 525.1+/-371.5 367,1061,775 84 86 85 757,757,757 2.3 1 9 dbSNP_125 85 3585,5015 517.9+/-379.1 751,2083,1466 yes coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice SLC34A3 NM_001177316.1,NM_001177317.1,NM_080877.2 ,, 1118,3144,2241 CC,CT,TT 41.686,40.7399,41.3655 ,, 253/600,253/600,253/600 140128085 5380,7626 2203 4300 6503 SO:0001630 splice_region_variant AB055000 CCDS7038.1 9q34.3 2013-07-17 2013-07-17 ENSG00000198569 ENSG00000198569 142680 Solute carriers 20305 protein-coding gene gene with protein product 609826 solute carrier family 34 (sodium phosphate), member 3 NA 11880379, 16358215, 16358214 Standard NM_080877 NM_080877 NA Approved NPTIIc, FLJ38680 uc004cmf.1 Q8N130 OTTHUMG00000131780 ENST00000538474.1:c.757-1T>C chr9.hg19:g.140128085T>C NA A2BFA1 hg19 CCDS7038.1 0.02 7.077049 CAGxTGG COVERED NOVEL SLC34A3-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254712.1 0 18.05401 KEEP 0 0 0 60 1910 TT 1 1 0 Silent + 6 60 236 0 0 15.387623 152 60 5420 294 ENST00000538474.1 0.037975 1 FAM166A 401565 __UNKNOWN__ __UNKNOWN__ 9 140138787 140138787 __UNKNOWN__ Intron SNP A A C rs369851503|rs9697206 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:140138787A>C ENST00000344774.4 - 6 802 NM_001001710.1 NP_001001710.1 Q6J272 F166A_HUMAN family with sequence similarity 166, member A NA NA nucleus (GO:0005634) kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2) 15 CGGCAGGCAAACAGATAGTCA 0.617 NA C||| 574 0.114617 0.1543 0.1383 5008 , , NA 18609 0.1835 NA 0.0298 False NA ,,, NA NA NA 2504 0.0603 NA NA NA NA 0 C 510,3896 765.9+/-413.4 25,460,1718 42 42 42 -0.6 0 9 dbSNP_119 42 279,8315 802.0+/-407.4 6,267,4024 no intron FAM166A NM_001001710.1 31,727,5742 CC,CA,AA 3.2465,11.5751,6.0692 140138787 789,12211 2203 4297 6500 SO:0001627 intron_variant BC132916 CCDS35186.1 9q34.3 2008-08-08 ENSG00000188163 ENSG00000188163 401565 33818 protein-coding gene gene with protein product NA Standard NM_001001710 XR_245332 NA Approved uc004cmi.1 Q6J272 OTTHUMG00000159545 ENST00000344774.4:c.748-47T>G chr9.hg19:g.140138787A>C NA A6NND9|Q8N830 hg19 CCDS35186.1 0.02 6.731122 CAAxCAG COVERED NOVEL FAM166A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000356125.1 0 16.848691 KEEP 0 0 0 56 1707 AA 1 1 0 - 9 60 327 0 0 21.351082 177 60 6307 312 ENST00000344774.4 0.048387 1 FAM166A 401565 __UNKNOWN__ __UNKNOWN__ 9 140139184 140139184 __UNKNOWN__ Silent SNP A A G rs4073074 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:140139184A>G ENST00000344774.4 - 5 711 c.657T>C c.(655-657)taT>taC p.Y219Y NM_001001710.1 NP_001001710.1 Q6J272 F166A_HUMAN family with sequence similarity 166, member A 219 NA nucleus (GO:0005634) kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2) 15 TGAAGCCAGCATAGCCTGGGG 0.592 NA A||| 411 0.0820687 0.0711 0.0908 5008 , , NA 18499 0.1548 NA 0.0298 False NA ,,, NA NA NA 2504 0.0695 NA NA NA NA 0 A 222,4178 133.3+/-169.7 1,220,1979 68 60 63 657 -0.2 1 9 dbSNP_108 63 258,8338 100.3+/-161.8 5,248,4045 no coding-synonymous FAM166A NM_001001710.1 6,468,6024 GG,GA,AA 3.0014,5.0455,3.6934 219/318 140139184 480,12516 2200 4298 6498 SO:0001819 synonymous_variant BC132916 CCDS35186.1 9q34.3 2008-08-08 ENSG00000188163 ENSG00000188163 401565 33818 protein-coding gene gene with protein product NA Standard NM_001001710 XR_245332 NA Approved uc004cmi.1 Q6J272 OTTHUMG00000159545 ENST00000344774.4:c.657T>C chr9.hg19:g.140139184A>G NA A6NND9|Q8N830 hg19 CCDS35186.1 0.02 13.970336 AGCxTAG COVERED NOVEL FAM166A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000356125.1 2 25.695671 KEEP 0 1 36 98 2931 AA 1 1 0 - 19 60 654 0 0 43.125541 318 60 11632 540 ENST00000344774.4 0.05638 1 FAM166A 401565 __UNKNOWN__ __UNKNOWN__ 9 140140008 140140008 __UNKNOWN__ Splice_Site SNP A A G rs115358961 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:140140008A>G ENST00000344774.4 - 3 327 c.273T>C c.(271-273)agT>agC p.S91S FAM166A_ENST00000388932.2_Splice_Site_p.S91S NM_001001710.1 NP_001001710.1 Q6J272 F166A_HUMAN family with sequence similarity 166, member A 91 NA nucleus (GO:0005634) kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2) 15 AGGGCTTCAGACCTGTACCAA 0.622 NA A||| 30 0.00599042 0.0 0.0 5008 , , NA 16437 0.0298 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 54 67 62 NA NA 9 NA 140140008 2174 4280 6454 SO:0001630 splice_region_variant BC132916 CCDS35186.1 9q34.3 2008-08-08 ENSG00000188163 ENSG00000188163 401565 33818 protein-coding gene gene with protein product NA Standard NM_001001710 XR_245332 NA Approved uc004cmi.1 Q6J272 OTTHUMG00000159545 ENST00000344774.4:c.272-1T>C chr9.hg19:g.140140008A>G NA A6NND9|Q8N830 hg19 CCDS35186.1 0.02 6.136939 CAGxCCT COVERED NOVEL FAM166A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000356125.1 5 21.96199 KEEP 0 0 0 73 2271 AA 1 1 0 Silent - 12 60 396 0 0 25.990846 184 60 6440 335 ENST00000344774.4 0.061224 1 C9orf173 441476 __UNKNOWN__ __UNKNOWN__ 9 140147487 140147487 __UNKNOWN__ Intron SNP G G C rs149372405 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:140147487G>C ENST00000412566.1 + 5 805 C9orf173_ENST00000388931.3_Intron Q8N7X2 CI173_HUMAN chromosome 9 open reading frame 173 NA NA kidney(1)|large_intestine(1)|lung(5)|pancreas(1) 8 AAGGGTTCAGGGGCCGGGGGT 0.657 NA G||| 225 0.0449281 0.003 0.0058 5008 , , NA 13135 0.1548 NA 0.008 False NA ,,, NA NA NA 2504 0.0542 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS48065.1, CCDS59156.1, CCDS75940.1, CCDS75941.1 9q34.3 2009-10-02 ENSG00000197768 ENSG00000197768 441476 37285 protein-coding gene gene with protein product NA Standard NM_001004353 NM_001256699 NA Approved FLJ40246 uc004cmk.2 Q8N7X2 ENST00000412566.1:c.796+70G>C chr9.hg19:g.140147487G>C NA A2RU24|B7ZM72|B7ZM76|Q8NEA3 hg19 CCDS48065.1 0.02 4.524192 CAGxGGC COVERED NOVEL C9orf173-202 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding 1 14.747588 KEEP 0 0 0 49 1707 GG 1 0.999999 0 + 10 60 298 0 0 19.823932 110 60 3986 194 ENST00000412566.1 0.083333 0.999999 NOXA1 10811 __UNKNOWN__ __UNKNOWN__ 9 140323906 140323906 __UNKNOWN__ Intron SNP G G C rs9697151 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:140323906G>C ENST00000341349.2 + 5 792 NOXA1_ENST00000392815.2_Intron NM_001256067.1|NM_006647.1 NP_001242996.1|NP_006638.1 Q86UR1 NOXA1_HUMAN NADPH oxidase activator 1 NA NA positive regulation of catalytic activity (GO:0043085)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of respiratory burst (GO:0060263)|superoxide metabolic process (GO:0006801) cytoplasm (GO:0005737)|NADPH oxidase complex (GO:0043020) enzyme binding (GO:0019899)|Rac GTPase binding (GO:0048365)|SH3 domain binding (GO:0017124)|superoxide-generating NADPH oxidase activator activity (GO:0016176) cervix(1)|large_intestine(2)|lung(2)|skin(3)|upper_aerodigestive_tract(1) 9 all_cancers(76;0.0926) OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982) CCCAGGGATGGGGGGAGGTGC 0.672 NA G||| 1787 0.356829 0.236 0.353 5008 , , NA 14893 0.6081 NA 0.2952 False NA ,,, NA NA NA 2504 0.3272 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF039697 CCDS7042.1, CCDS59157.1 9q34.3 2013-09-20 2002-12-09 2002-12-13 ENSG00000188747 ENSG00000188747 10811 10668 protein-coding gene gene with protein product 611255 serologically defined colon cancer antigen 31 SDCCAG31 NA 9610721 Standard NM_001256067 NA Approved NY-CO-31, FLJ25475 uc004cmu.3 Q86UR1 OTTHUMG00000131781 ENST00000341349.2:c.612+71G>C chr9.hg19:g.140323906G>C NA O60533|Q29VU9|Q29VV0|Q2TAM1|Q8IUS3 hg19 CCDS7042.1 0.02 2.029791 ATGxGGG COVERED NOVEL NOXA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254713.1 1 8.426401 KEEP 0 0 0 28 944 GG 0.999997 0.998462 0 + 5 60 173 0 0 11.711473 70 60 2524 123 ENST00000341349.2 0.066667 0.998465 NOXA1 10811 __UNKNOWN__ __UNKNOWN__ 9 140328077 140328077 __UNKNOWN__ Intron SNP C C T rs35138580 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:140328077C>T ENST00000341349.2 + 11 1244 NOXA1_ENST00000392815.2_Intron NM_001256067.1|NM_006647.1 NP_001242996.1|NP_006638.1 Q86UR1 NOXA1_HUMAN NADPH oxidase activator 1 NA NA positive regulation of catalytic activity (GO:0043085)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of respiratory burst (GO:0060263)|superoxide metabolic process (GO:0006801) cytoplasm (GO:0005737)|NADPH oxidase complex (GO:0043020) enzyme binding (GO:0019899)|Rac GTPase binding (GO:0048365)|SH3 domain binding (GO:0017124)|superoxide-generating NADPH oxidase activator activity (GO:0016176) cervix(1)|large_intestine(2)|lung(2)|skin(3)|upper_aerodigestive_tract(1) 9 all_cancers(76;0.0926) OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982) AGAAAGCCCCCGGTGGCTGCG 0.711 NA T||| 1963 0.391973 0.3616 0.3545 5008 , , NA 15719 0.6141 NA 0.2982 False NA ,,, NA NA NA 2504 0.3272 NA NA NA NA 0 T 1469,2665 277,915,875 10 12 11 -3.8 0 9 dbSNP_126 11 2179,6083 336,1507,2288 no intron NOXA1 NM_006647.1 613,2422,3163 TT,TC,CC 26.3738,35.5346,29.4288 140328077 3648,8748 2067 4131 6198 SO:0001627 intron_variant AF039697 CCDS7042.1, CCDS59157.1 9q34.3 2013-09-20 2002-12-09 2002-12-13 ENSG00000188747 ENSG00000188747 10811 10668 protein-coding gene gene with protein product 611255 serologically defined colon cancer antigen 31 SDCCAG31 NA 9610721 Standard NM_001256067 NA Approved NY-CO-31, FLJ25475 uc004cmu.3 Q86UR1 OTTHUMG00000131781 ENST00000341349.2:c.1064+18C>T chr9.hg19:g.140328077C>T NA O60533|Q29VU9|Q29VV0|Q2TAM1|Q8IUS3 hg19 CCDS7042.1 0.02 1.84563 CCCxGGT COVERED NOVEL NOXA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254713.1 1 9.32684 KEEP 0 0 0 31 1017 CC 0.999997 0.999927 0 + 11 60 408 0 0 31.208765 85 60 2970 157 ENST00000341349.2 0.114583 0.99993 ENTPD8 377841 __UNKNOWN__ __UNKNOWN__ 9 140329265 140329265 __UNKNOWN__ 3'UTR SNP G G C rs28725243 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:140329265G>C ENST00000472938.1 - 0 1605 ENTPD8_ENST00000371506.2_3'UTR|ENTPD8_ENST00000344119.2_3'UTR Q5MY95 ENTP8_HUMAN ectonucleoside triphosphate diphosphohydrolase 8 NA NA nucleoside diphosphate biosynthetic process (GO:0009133)|nucleoside monophosphate biosynthetic process (GO:0009124) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111) biliary_tract(1)|lung(4)|prostate(1)|skin(1) 7 all_cancers(76;0.0926) OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898) CGTGGGCAGAGCCACAGAGCA 0.706 NA G||| 1891 0.377596 0.2307 0.3559 5008 , , NA 15102 0.7113 NA 0.2972 False NA ,,, NA NA NA 2504 0.3303 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY359088 CCDS7043.1, CCDS43913.1 9q34.3 2013-09-20 ENSG00000188833 ENSG00000188833 377841 24860 protein-coding gene gene with protein product GLSR2492 NA 12975309 Standard NM_198585 NM_198585 NA Approved UNQ2492, NTPDase-8 uc004cmw.3 Q5MY95 OTTHUMG00000131831 ENST00000472938.1:c.*101C>G chr9.hg19:g.140329265G>C NA A2BG17|Q6UVZ0 hg19 CCDS43913.1 0.02 2.172186 AGAxCCA COVERED NOVEL ENTPD8-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000355991.1 2 3.912023 KEEP 0 0 0 13 449 GG 0.994391 0.994286 0 - 9 60 336 0 0 25.058901 84 60 3066 119 ENST00000472938.1 0.096774 0.999895 PNPLA7 375775 __UNKNOWN__ __UNKNOWN__ 9 140358766 140358766 __UNKNOWN__ Intron SNP A A G rs371039492 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:140358766A>G ENST00000277531.4 - 26 3268 PNPLA7_ENST00000406427.1_Intron|PNPLA7_ENST00000371457.1_Intron|PNPLA7_ENST00000492278.1_5'UTR NM_152286.3 NP_689499.3 Q6ZV29 PLPL7_HUMAN patatin-like phospholipase domain containing 7 NA NA lipid metabolic process (GO:0006629) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634) lysophospholipase activity (GO:0004622) breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_cancers(76;0.126) OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839) TGGGGGCTGCATGGGCTCCTG 0.652 NA NA NA NA NA NA NA NA NA NA NA 0 82 86 85 NA NA 9 NA 140358766 2203 4300 6503 SO:0001627 intron_variant AK126267 CCDS7045.1, CCDS48070.1 9q34.3 2009-01-12 2006-06-12 2006-06-12 ENSG00000130653 ENSG00000130653 375775 Patatin-like phospholipase domain containing 24768 protein-coding gene gene with protein product 612122 chromosome 9 open reading frame 111 C9orf111 NA 16799181, 12640454, 19029121 Standard NM_152286 XM_005266082 NA Approved FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1 uc010ncj.1 Q6ZV29 OTTHUMG00000020990 ENST00000277531.4:c.3081+25T>C chr9.hg19:g.140358766A>G NA B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5 hg19 CCDS7045.1 0.02 8.533188 TGCxTGG COVERED NOVEL PNPLA7-007 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000254787.1 0 21.033626 KEEP 0 0 0 70 2108 AA 1 1 0 - 10 60 318 0 0 17.757809 277 60 9940 435 ENST00000277531.4 0.034843 1 PNPLA7 375775 __UNKNOWN__ __UNKNOWN__ 9 140379229 140379229 __UNKNOWN__ Intron SNP C C T rs146089848 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:140379229C>T ENST00000277531.4 - 20 2309 PNPLA7_ENST00000406427.1_Intron|PNPLA7_ENST00000371457.1_Intron NM_152286.3 NP_689499.3 Q6ZV29 PLPL7_HUMAN patatin-like phospholipase domain containing 7 NA NA lipid metabolic process (GO:0006629) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634) lysophospholipase activity (GO:0004622) breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_cancers(76;0.126) OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839) ACAGCCCACACGCTCACAGAT 0.692 NA c||| 17 0.00339457 0.0 0.0 5008 , , NA 15007 0.0159 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 21 20 20 NA NA 9 NA 140379229 2197 4297 6494 SO:0001627 intron_variant AK126267 CCDS7045.1, CCDS48070.1 9q34.3 2009-01-12 2006-06-12 2006-06-12 ENSG00000130653 ENSG00000130653 375775 Patatin-like phospholipase domain containing 24768 protein-coding gene gene with protein product 612122 chromosome 9 open reading frame 111 C9orf111 NA 16799181, 12640454, 19029121 Standard NM_152286 XM_005266082 NA Approved FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1 uc010ncj.1 Q6ZV29 OTTHUMG00000020990 ENST00000277531.4:c.2123-41G>A chr9.hg19:g.140379229C>T NA B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5 hg19 CCDS7045.1 0.02 4.265207 ACAxGCT COVERED NOVEL PNPLA7-007 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000254787.1 1 5.716061 KEEP 0 0 0 19 602 CC 0.99986 0.999841 0 - 9 60 305 0 0 21.547351 94 60 3097 143 ENST00000277531.4 0.087379 0.999981 PNPLA7 375775 __UNKNOWN__ __UNKNOWN__ 9 140391792 140391792 __UNKNOWN__ Intron SNP T T C rs117132960 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:140391792T>C ENST00000277531.4 - 17 2001 PNPLA7_ENST00000406427.1_Intron|PNPLA7_ENST00000371457.1_Intron NM_152286.3 NP_689499.3 Q6ZV29 PLPL7_HUMAN patatin-like phospholipase domain containing 7 NA NA lipid metabolic process (GO:0006629) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634) lysophospholipase activity (GO:0004622) breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_cancers(76;0.126) OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839) CCTGCAGCCCTGGGCCCCCAG 0.572 NA T||| 85 0.0169728 0.0008 0.0 5008 , , NA 12655 0.0198 NA 0.0 False NA ,,, NA NA NA 2504 0.0654 NA NA NA NA 0 13 13 13 NA NA 9 NA 140391792 2189 4283 6472 SO:0001627 intron_variant AK126267 CCDS7045.1, CCDS48070.1 9q34.3 2009-01-12 2006-06-12 2006-06-12 ENSG00000130653 ENSG00000130653 375775 Patatin-like phospholipase domain containing 24768 protein-coding gene gene with protein product 612122 chromosome 9 open reading frame 111 C9orf111 NA 16799181, 12640454, 19029121 Standard NM_152286 XM_005266082 NA Approved FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1 uc010ncj.1 Q6ZV29 OTTHUMG00000020990 ENST00000277531.4:c.1815-30A>G chr9.hg19:g.140391792T>C NA B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5 hg19 CCDS7045.1 0.02 6.874873 CCCxGGG COVERED NOVEL PNPLA7-007 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000254787.1 1 13.838428 KEEP 0 0 0 46 1384 TT 1 1 0 - 10 60 346 0 0 22.58669 171 60 6345 297 ENST00000277531.4 0.055249 1 PNPLA7 375775 __UNKNOWN__ __UNKNOWN__ 9 140392616 140392616 __UNKNOWN__ Silent SNP G G A rs61754920 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:140392616G>A ENST00000277531.4 - 16 1950 c.1764C>T c.(1762-1764)atC>atT p.I588I PNPLA7_ENST00000406427.1_Silent_p.I613I|PNPLA7_ENST00000371457.1_Silent_p.I194I NM_152286.3 NP_689499.3 Q6ZV29 PLPL7_HUMAN patatin-like phospholipase domain containing 7 588 NA lipid metabolic process (GO:0006629) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634) lysophospholipase activity (GO:0004622) p.I588I(1) breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_cancers(76;0.126) OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839) GGGCAAAGTCGATTTGCCGCA 0.632 NA G||| 960 0.191693 0.3502 0.0807 5008 , , NA 19897 0.2341 NA 0.0795 False NA ,,, NA NA NA 2504 0.1278 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) G , 1434,2968 464.5+/-353.9 225,984,992 147 112 124 1839,1764 -8.8 0.7 9 dbSNP_129 124 737,7861 178.8+/-228.1 42,653,3604 no coding-synonymous,coding-synonymous PNPLA7 NM_001098537.1,NM_152286.3 , 267,1637,4596 AA,AG,GG 8.5718,32.5761,16.7 , 613/1343,588/1318 140392616 2171,10829 2201 4299 6500 SO:0001819 synonymous_variant AK126267 CCDS7045.1, CCDS48070.1 9q34.3 2009-01-12 2006-06-12 2006-06-12 ENSG00000130653 ENSG00000130653 375775 Patatin-like phospholipase domain containing 24768 protein-coding gene gene with protein product 612122 chromosome 9 open reading frame 111 C9orf111 NA 16799181, 12640454, 19029121 Standard NM_152286 XM_005266082 NA Approved FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1 uc010ncj.1 Q6ZV29 OTTHUMG00000020990 ENST00000277531.4:c.1764C>T chr9.hg19:g.140392616G>A NA B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5 hg19 CCDS7045.1 0.02 20.409633 GTCxATT COVERED NOVEL PNPLA7-007 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000254787.1 2 37.918685 KEEP 0 0 0 126 4241 GG 1 1 0 - 21 60 785 0 0 51.60178 433 60 15202 738 ENST00000277531.4 0.046256 1 PNPLA7 375775 __UNKNOWN__ __UNKNOWN__ 9 140409877 140409877 __UNKNOWN__ Missense_Mutation SNP C C A rs3750379 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:140409877C>A ENST00000277531.4 - 11 1290 c.1104G>T c.(1102-1104)gaG>gaT p.E368D PNPLA7_ENST00000406427.1_Missense_Mutation_p.E393D|PNPLA7_ENST00000371457.1_5'UTR NM_152286.3 NP_689499.3 Q6ZV29 PLPL7_HUMAN patatin-like phospholipase domain containing 7 368 NA E -> D (in dbSNP:rs3750379). lipid metabolic process (GO:0006629) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634) lysophospholipase activity (GO:0004622) breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_cancers(76;0.126) OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839) GCTTCTCCAGCTCCTCCAAGA 0.672 NA c||| 425 0.0848642 0.2534 0.0101 5008 , , NA 11910 0.0198 NA 0.002 False NA ,,, NA NA NA 2504 0.0624 NA NA NA NA 0 ASP/GLU,ASP/GLU 899,3463 92,715,1374 22 25 24 1179,1104 3.4 0.6 9 dbSNP_107 24 11,8567 0,11,4278 yes missense,missense PNPLA7 NM_001098537.1,NM_152286.3 45,45 92,726,5652 AA,AC,CC 0.1282,20.6098,7.0325 possibly-damaging,possibly-damaging 393/1343,368/1318 140409877 910,12030 2181 4289 6470 SO:0001583 missense AK126267 CCDS7045.1, CCDS48070.1 9q34.3 2009-01-12 2006-06-12 2006-06-12 ENSG00000130653 ENSG00000130653 375775 Patatin-like phospholipase domain containing 24768 protein-coding gene gene with protein product 612122 chromosome 9 open reading frame 111 C9orf111 NA 16799181, 12640454, 19029121 Standard NM_152286 XM_005266082 NA Approved FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1 uc010ncj.1 Q6ZV29 OTTHUMG00000020990 ENST00000277531.4:c.1104G>T chr9.hg19:g.140409877C>A ENSP00000277531:p.Glu368Asp NA B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5 hg19 CCDS7045.1 0.02 6.134471 CAGxTCC COVERED 130 0.05952380952380952 112 0.22764227642276422 4 0.011049723756906077 14 0.024475524475524476 0 0.0 c 12.90 2.077915 0.36662 0.206098 0.001282 ENSG00000130653 ENST00000371446;ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090;ENST00000371450 T;T;T;T 0.59638 3.24;0.25;0.25;0.25 4.53 3.38 0.38709 . 0.830003 0.10682 N 0.646344 T 0.00039 0.0001 L 0.44542 1.39 0.58432 P 1.0000000000287557E-6 P;B;B 0.36010 0.532;0.152;0.181 B;B;B 0.28916 0.096;0.074;0.051 T 0.06698 -1.0812 9 0.13470 T 0.59 -13.7559 8.4594 0.32919 0.0:0.8685:0.0:0.1315 rs3750379;rs60632680 100;393;368 E2QRF8;Q6ZV29-5;Q6ZV29 .;.;PLPL7_HUMAN D 100;368;393;368;359;393 ENSP00000360501:E100D;ENSP00000277531:E368D;ENSP00000384610:E393D;ENSP00000400582:E359D ENSP00000277531:E368D E - 3 2 PNPLA7 139529698 0.112000 0.22096 0.616000 0.29078 0.007000 0.05969 0.088000 0.14979 2.077000 0.62373 0.437000 0.28790 GAG NOVEL PNPLA7-007 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000254787.1 0 10.534305 KEEP 0 0 0 35 1252 CC 0.999999 0.999999 0 - 6 60 211 0 0 12.474158 180 60 6759 279 ENST00000277531.4 0.032258 1 PNPLA7 375775 __UNKNOWN__ __UNKNOWN__ 9 140409891 140409891 __UNKNOWN__ Missense_Mutation SNP G G C rs3750378 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:140409891G>C ENST00000277531.4 - 11 1276 c.1090C>G c.(1090-1092)Cag>Gag p.Q364E PNPLA7_ENST00000406427.1_Missense_Mutation_p.Q389E|PNPLA7_ENST00000371457.1_5'UTR NM_152286.3 NP_689499.3 Q6ZV29 PLPL7_HUMAN patatin-like phospholipase domain containing 7 364 NA Q -> E (in dbSNP:rs3750378). lipid metabolic process (GO:0006629) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634) lysophospholipase activity (GO:0004622) breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_cancers(76;0.126) OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839) TCCAAGATCTGTTTGCGAATG 0.672 NA N||| 425 0.0848642 0.2534 0.0101 5008 , , NA 11659 0.0198 NA 0.002 False NA ,,, NA NA NA 2504 0.0624 NA NA NA NA 0 GLU/GLN,GLU/GLN 905,3445 95,715,1365 21 23 22 1165,1090 4.5 0 9 dbSNP_107 22 11,8559 0,11,4274 yes missense,missense PNPLA7 NM_001098537.1,NM_152286.3 29,29 95,726,5639 CC,CG,GG 0.1284,20.8046,7.0898 benign,benign 389/1343,364/1318 140409891 916,12004 2175 4285 6460 SO:0001583 missense AK126267 CCDS7045.1, CCDS48070.1 9q34.3 2009-01-12 2006-06-12 2006-06-12 ENSG00000130653 ENSG00000130653 375775 Patatin-like phospholipase domain containing 24768 protein-coding gene gene with protein product 612122 chromosome 9 open reading frame 111 C9orf111 NA 16799181, 12640454, 19029121 Standard NM_152286 XM_005266082 NA Approved FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1 uc010ncj.1 Q6ZV29 OTTHUMG00000020990 ENST00000277531.4:c.1090C>G chr9.hg19:g.140409891G>C ENSP00000277531:p.Gln364Glu NA B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5 hg19 CCDS7045.1 0.02 7.30966 TCTxTTT COVERED 130 0.05952380952380952 112 0.22764227642276422 4 0.011049723756906077 14 0.024475524475524476 0 0.0 c 11.58 1.681079 0.29872 0.208046 0.001284 ENSG00000130653 ENST00000371446;ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090;ENST00000371450 T;T;T;T 0.57436 3.59;0.4;0.4;0.4 4.53 4.53 0.55603 . 1.164590 0.06132 N 0.670761 T 0.00012 0.0000 N 0.03115 -0.41 0.80722 P 0.0 B;B;B 0.02656 0.0;0.0;0.0 B;B;B 0.01281 0.0;0.0;0.0 T 0.07908 -1.0748 9 0.02654 T 1 -7.5026 10.8005 0.46485 0.0:0.8077:0.1923:0.0 rs3750378;rs59884170;rs3750378 96;389;364 E2QRF8;Q6ZV29-5;Q6ZV29 .;.;PLPL7_HUMAN E 96;364;389;364;355;389 ENSP00000360501:Q96E;ENSP00000277531:Q364E;ENSP00000384610:Q389E;ENSP00000400582:Q355E ENSP00000277531:Q364E Q - 1 0 PNPLA7 139529712 0.003000 0.15002 0.011000 0.14972 0.008000 0.06430 1.423000 0.34837 0.913000 0.36797 -0.419000 0.06015 CAG NOVEL PNPLA7-007 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000254787.1 0 9.932064 KEEP 0 0 0 33 1169 GG 0.999998 0.999998 0 - 7 60 275 0 0 18.044759 170 60 6423 273 ENST00000277531.4 0.039548 1 PNPLA7 375775 __UNKNOWN__ __UNKNOWN__ 9 140416025 140416025 __UNKNOWN__ Intron SNP A A G rs2298172 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:140416025A>G ENST00000277531.4 - 9 1069 PNPLA7_ENST00000406427.1_Intron NM_152286.3 NP_689499.3 Q6ZV29 PLPL7_HUMAN patatin-like phospholipase domain containing 7 NA NA lipid metabolic process (GO:0006629) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634) lysophospholipase activity (GO:0004622) breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_cancers(76;0.126) OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839) GTGCCAACCAATAGCTGTCCC 0.587 NA A||| 1147 0.229034 0.4728 0.0908 5008 , , NA 19098 0.2341 NA 0.0924 False NA ,,, NA NA NA 2504 0.1329 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK126267 CCDS7045.1, CCDS48070.1 9q34.3 2009-01-12 2006-06-12 2006-06-12 ENSG00000130653 ENSG00000130653 375775 Patatin-like phospholipase domain containing 24768 protein-coding gene gene with protein product 612122 chromosome 9 open reading frame 111 C9orf111 NA 16799181, 12640454, 19029121 Standard NM_152286 XM_005266082 NA Approved FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1 uc010ncj.1 Q6ZV29 OTTHUMG00000020990 ENST00000277531.4:c.882+62T>C chr9.hg19:g.140416025A>G NA B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5 hg19 CCDS7045.1 0.02 6.503197 CCAxTAG COVERED NOVEL PNPLA7-007 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000254787.1 2 11.432568 KEEP 0 0 0 38 1154 AA 1 1 0 - 11 60 416 0 0 28.931034 167 60 5897 258 ENST00000277531.4 0.061798 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 9 141019088 141019088 __UNKNOWN__ IGR SNP T T C rs59355635 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr9:141019088T>C NA NA CACNA1B (12 upstream) : TUBBP5 (25476 downstream) NA NA NA CATGCTGCCATTGGTATATGC 0.398 NA .||| 639 0.127596 0.0091 0.121 5008 , , NA 17905 0.1766 NA 0.2177 False NA ,,, NA NA NA 2504 0.1493 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr9.hg19:g.141019088T>C NA hg19 0.02 1.959587 CCAxTGG COVERED NOVEL 0 3 7.221617 KEEP 0 0 0 24 753 TT 0.999909 0.999468 0 4 60 151 0 0 10.047584 79 60 2911 130 0.048193 0.999559 DIP2C 22982 __UNKNOWN__ __UNKNOWN__ 10 370737 370737 __UNKNOWN__ Intron SNP C C T rs41288725 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:370737C>T ENST00000280886.6 - 31 4012 NM_014974.2 NP_055789.1 Q9Y2E4 DIP2C_HUMAN DIP2 disco-interacting protein 2 homolog C (Drosophila) NA NA nucleus (GO:0005634) catalytic activity (GO:0003824) breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) GCCCTGGTGCCGAGGTAAGGA 0.507 NA C||| 534 0.106629 0.1172 0.0576 5008 , , NA 18543 0.1181 NA 0.0547 False NA ,,, NA NA NA 2504 0.1687 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC035216 CCDS7054.1 10p15.3 2006-01-13 2006-01-13 2006-01-13 ENSG00000151240 ENSG00000151240 22982 29150 protein-coding gene gene with protein product 611380 KIAA0934 KIAA0934 NA Standard NM_014974 NM_014974 NA Approved uc001ifp.3 Q9Y2E4 OTTHUMG00000017532 ENST00000280886.6:c.3924+2208G>A chr10.hg19:g.370737C>T NA B4DPI5|Q5SS78 hg19 CCDS7054.1 0.02 24.709592 TGCxGAG COVERED NOVEL DIP2C-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000046389.1 4 39.125018 KEEP 0 0 0 130 4461 CC 1 1 0 - 19 60 694 0 0 42.385523 546 60 19693 836 ENST00000280886.6 0.033628 1 DIP2C 22982 __UNKNOWN__ __UNKNOWN__ 10 459940 459940 __UNKNOWN__ Silent SNP G G A rs4881274 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:459940G>A ENST00000280886.6 - 8 1057 c.970C>T c.(970-972)Ctg>Ttg p.L324L DIP2C_ENST00000381496.3_Silent_p.L217L NM_014974.2 NP_055789.1 Q9Y2E4 DIP2C_HUMAN DIP2 disco-interacting protein 2 homolog C (Drosophila) 324 NA nucleus (GO:0005634) catalytic activity (GO:0003824) breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) CACCTCTGCAGTGCGGCCTCC 0.667 NA G||| 3139 0.626797 0.5772 0.6268 5008 , , NA 15834 0.6915 NA 0.5417 False NA ,,, NA NA NA 2504 0.7147 NA NA NA NA 0 G 2460,1946 622.4+/-393.9 691,1078,434 59 59 59 970 1.7 0.1 10 dbSNP_111 59 4653,3947 604.0+/-394.7 1260,2133,907 no coding-synonymous DIP2C NM_014974.2 1951,3211,1341 AA,AG,GG 45.8953,44.167,45.3099 324/1557 459940 7113,5893 2203 4300 6503 SO:0001819 synonymous_variant BC035216 CCDS7054.1 10p15.3 2006-01-13 2006-01-13 2006-01-13 ENSG00000151240 ENSG00000151240 22982 29150 protein-coding gene gene with protein product 611380 KIAA0934 KIAA0934 NA Standard NM_014974 NM_014974 NA Approved uc001ifp.3 Q9Y2E4 OTTHUMG00000017532 ENST00000280886.6:c.970C>T chr10.hg19:g.459940G>A NA B4DPI5|Q5SS78 hg19 CCDS7054.1 0.02 8.005377 GCAxTGC COVERED NOVEL DIP2C-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000046389.1 1 23.009102 KEEP 0 1 36 89 3196 GG 1 1 0 - 7 60 248 0 0 14.64896 215 60 8084 397 ENST00000280886.6 0.031532 1 GTPBP4 23560 __UNKNOWN__ __UNKNOWN__ 10 1038370 1038370 __UNKNOWN__ Intron SNP T T A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:1038370T>A ENST00000360803.4 + 2 130 GTPBP4_ENST00000545048.1_Intron|GTPBP4_ENST00000538293.1_Intron|GTPBP4_ENST00000491635.1_Intron NM_012341.2 NP_036473.2 Q9BZE4 NOG1_HUMAN GTP binding protein 4 NA NA GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of collagen binding (GO:0033342)|negative regulation of DNA replication (GO:0008156)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein stabilization (GO:0050821)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|ribosome biogenesis (GO:0042254) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471) GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822) endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1) 21 all_epithelial(10;0.107)|Colorectal(49;0.14) OV - Ovarian serous cystadenocarcinoma(33;0.0814) Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173) AGGTTTCAAATAAATGGCTCA 0.423 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK001548 CCDS31132.1 10p15-p14 2007-07-27 ENSG00000107937 ENSG00000107937 23560 21535 protein-coding gene gene with protein product G protein-binding protein CRFG, GTP-binding protein NA 11316846 Standard NM_012341 NM_012341 NA Approved CRFG, NGB, FLJ10690, FLJ10686, NOG1 uc001ift.3 Q9BZE4 OTTHUMG00000017538 ENST00000360803.4:c.49-59T>A chr10.hg19:g.1038370T>A NA B3KMC5|B4DY13|B7Z7A3|O95446|Q5T3R8|Q9NVJ8 hg19 CCDS31132.1 0.02 2.404157 AAAxAAA COVERED NOVEL GTPBP4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000046412.1 1 3.343283 KEEP 0 2 15 17 406 TT 0.99986 0.99986 0 + 21 60 257 0 0 9.60104 147 60 4815 231 ENST00000360803.4 0.125 1 KLF6 1316 __UNKNOWN__ __UNKNOWN__ 10 3823419 3823419 __UNKNOWN__ Intron SNP A A G rs12221160 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:3823419A>G ENST00000497571.1 - 2 937 KLF6_ENST00000173785.4_Intron|KLF6_ENST00000542957.1_Intron|KLF6_ENST00000469435.1_3'UTR NM_001160124.1|NM_001300.5 NP_001153596.1|NP_001291.3 Q99612 KLF6_HUMAN Kruppel-like factor 6 NA NA B cell differentiation (GO:0030183)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Colorectal(1;0.238) AAACCCACACACTCCACGCTG 0.597 NA A||| 1320 0.263578 0.2791 0.2075 5008 , , NA 17517 0.2083 NA 0.2674 False NA ,,, NA NA NA 2504 0.3354 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U51869 CCDS7060.1, CCDS53490.1 10p15 2013-01-08 2004-11-29 2004-12-01 ENSG00000067082 ENSG00000067082 1316 Kruppel-like transcription factors, Zinc fingers, C2H2-type 2235 protein-coding gene gene with protein product GC-rich binding factor 602053 core promoter element binding protein BCD1, ST12, COPEB NA 9503030, 9685731 Standard NM_001300 NA Approved CPBP, GBF, Zf9, PAC1 uc001iha.3 Q99612 OTTHUMG00000017567 ENST00000497571.1:c.676+413T>C chr10.hg19:g.3823419A>G NA B2RE86|B4DDN0|D3DRR1|F5H3M5|Q5VUT7|Q5VUT8|Q9BT79 hg19 CCDS7060.1 0.02 8.787026 CACxCTC COVERED NOVEL KLF6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000046495.1 2 55.343789 KEEP 0 0 0 184 5451 AA 1 1 0 - 8 60 292 0 0 18.038506 216 60 7252 548 ENST00000497571.1 0.035714 1 AKR1C1 1645 __UNKNOWN__ __UNKNOWN__ 10 5021903 5021903 __UNKNOWN__ 3'UTR SNP T T A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:5021903T>A ENST00000380872.4 + 0 3133 NM_001353.5 NP_001344.2 Q04828 AK1C1_HUMAN aldo-keto reductase family 1, member C1 NA NA bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|cellular response to jasmonic acid stimulus (GO:0071395)|cholesterol homeostasis (GO:0042632)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|epithelial cell differentiation (GO:0030855)|intestinal cholesterol absorption (GO:0030299)|oxidation-reduction process (GO:0055114)|phototransduction, visible light (GO:0007603)|progesterone metabolic process (GO:0042448)|protein homooligomerization (GO:0051260)|response to organophosphorus (GO:0046683)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|xenobiotic metabolic process (GO:0006805) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) 17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity (GO:0047006)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase (B-specific) activity (GO:0047042)|bile acid binding (GO:0032052)|carboxylic acid binding (GO:0031406)|indanol dehydrogenase activity (GO:0047718)|ketosteroid monooxygenase activity (GO:0047086)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|phenanthrene 9,10-monooxygenase activity (GO:0018636)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(2)|ovary(3)|prostate(1) 13 Acetylsalicylic acid(DB00945)|Salicylic acid(DB00936) TCCATTTTTATAAAACTCTTA 0.303 NA NA NA NA NA NA NA NA NA NA Colon(130;2054 2316 13360 15380) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D26124 CCDS7061.1 10p15-p14 2012-12-04 2012-12-04 ENSG00000187134 ENSG00000187134 1645 1.3.1.20, 1.1.1.149, 1.1.1.112 Aldo-keto reductases 384 protein-coding gene gene with protein product dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase 600449 aldo-keto reductase family 1, member C1 (dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase) DDH1 NA 8011662 Standard NM_001353 NM_001353 NA Approved DDH, MBAB, DD1, HAKRC Q04828 OTTHUMG00000017580 ENST00000380872.4:c.*1969T>A chr10.hg19:g.5021903T>A NA P52896|Q5SR15|Q7M4N2|Q9UCX2 hg19 CCDS7061.1 0.02 10.504546 TTAxAAA COVERED NOVEL AKR1C1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000046523.2 9 15.947263 KEEP 0 0 0 53 1633 TT 1 1 0 + 10 60 368 0 0 22.704004 279 60 10126 413 ENST00000380872.4 0.034602 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 5202241 5202241 __UNKNOWN__ IGR SNP C C T rs1761599 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:5202241C>T NA NA AKR1CL1 (97 upstream) : AKR1CL1 (1452 downstream) NA NA NA TGGCTTGAGACATGCAATAGT 0.378 NA C||| 3900 0.778754 0.7247 0.7277 5008 , , NA 19080 0.8601 NA 0.7674 False NA ,,, NA NA NA 2504 0.816 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.5202241C>T NA hg19 0.02 2.097928 AGAxATG COVERED NOVEL 0 4 3.611817 KEEP 0 0 0 12 424 CC 0.993634 0.99347 0 32 60 1164 0 0 106.224905 58 60 2219 123 0.355556 0.999835 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 5435040 5435040 __UNKNOWN__ IGR SNP C C T rs117241327 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:5435040C>T NA NA UCN3 (18871 upstream) : TUBAL3 (20 downstream) NA NA NA TTTGGGCACACATTTCAAAGA 0.358 NA C||| 9 0.00179712 0.0 0.0 5008 , , NA 20670 0.0089 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.5435040C>T NA hg19 0.02 4.032241 ACAxATT COVERED NOVEL 0 3 3.310784 KEEP 0 0 0 11 387 CC 0.993072 0.993071 0 5 60 179 0 0 11.282767 114 60 4181 138 0.042017 0.999998 ASB13 79754 __UNKNOWN__ __UNKNOWN__ 10 5681783 5681783 __UNKNOWN__ 3'UTR SNP C C T rs11256474 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:5681783C>T ENST00000357700.6 - 0 1746 ASB13_ENST00000479033.1_5'UTR NM_024701.3 NP_078977.2 Q8WXK3 ASB13_HUMAN ankyrin repeat and SOCS box containing 13 NA NA intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567) NS(1)|endometrium(3)|lung(3)|ovary(1) 8 GBM - Glioblastoma multiforme(2;9.59e-09) ACAATTCCCACAGAGTCTCCA 0.433 NA C||| 1243 0.248203 0.3041 0.1614 5008 , , NA 17667 0.4107 NA 0.1759 False NA ,,, NA NA NA 2504 0.1411 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK091935 CCDS7070.1 10p15.1 2013-01-10 2011-01-25 ENSG00000196372 ENSG00000196372 79754 Ankyrin repeat domain containing 19765 protein-coding gene gene with protein product 615055 ankyrin repeat and SOCS box-containing 13 NA 12076535 Standard NM_024701 NA Approved FLJ13134, MGC19879 uc001iig.2 Q8WXK3 OTTHUMG00000017603 ENST00000357700.6:c.*883G>A chr10.hg19:g.5681783C>T NA A8K7Q6|D3DRR2|Q96EP7|Q9H8Z1 hg19 CCDS7070.1 0.02 10.814829 CCAxAGA COVERED NOVEL ASB13-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000046564.1 1 27.389168 KEEP 0 0 0 91 3228 CC 1 1 0 - 8 60 294 0 0 17.642972 257 60 9733 459 ENST00000357700.6 0.030189 1 FAM208B 54906 __UNKNOWN__ __UNKNOWN__ 10 5762874 5762874 __UNKNOWN__ Silent SNP C C T rs76832615 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:5762874C>T ENST00000328090.5 + 6 712 c.87C>T c.(85-87)gaC>gaT p.D29D RP11-336A10.2_ENST00000411512.2_RNA NM_017782.4 NP_060252 Q5VWN6 F208B_HUMAN family with sequence similarity 208, member B 29 NA NA TTGTTCAAGACCGTATGCTAT 0.323 NA C||| 118 0.0235623 0.003 0.1081 5008 , , NA 20005 0.0298 NA 0.0089 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 C 10,3694 0,10,1842 106 92 97 87 3.3 1 10 dbSNP_131 97 63,8135 0,63,4036 no coding-synonymous FAM208B NM_017782.4 0,73,5878 TT,TC,CC 0.7685,0.27,0.6133 29/2431 5762874 73,11829 1852 4099 5951 SO:0001819 synonymous_variant BX649177 CCDS41485.1 10p15.1 2011-09-14 2011-09-14 2011-09-14 ENSG00000108021 ENSG00000108021 54906 23484 protein-coding gene gene with protein product chromosome 10 open reading frame 18 C10orf18 NA 12477932 Standard NM_017782 NM_017782 NA Approved FLJ20360, bA318E3.2, KIAA2006 uc001iij.3 Q5VWN6 OTTHUMG00000017605 ENST00000328090.5:c.87C>T chr10.hg19:g.5762874C>T NA Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1 hg19 CCDS41485.1 0.02 6.058734 AGAxCGT COVERED NOVEL FAM208B-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000046571.2 4 12.038968 KEEP 0 0 0 40 1409 CC 1 1 0 + 9 60 330 0 0 21.71436 174 60 6475 280 ENST00000328090.5 0.04918 1 FAM208B 54906 __UNKNOWN__ __UNKNOWN__ 10 5782022 5782022 __UNKNOWN__ Missense_Mutation SNP C C A rs4748636 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:5782022C>A ENST00000328090.5 + 13 2514 c.1889C>A c.(1888-1890)gCc>gAc p.A630D RP11-336A10.2_ENST00000411512.2_RNA NM_017782.4 NP_060252 Q5VWN6 F208B_HUMAN family with sequence similarity 208, member B 630 NA A -> D (in dbSNP:rs4748636). NA CCTGCTAAAGCCCAGTCAGCA 0.443 NA C||| 229 0.0457268 0.0091 0.1354 5008 , , NA 21066 0.0893 NA 0.0129 False NA ,,, NA NA NA 2504 0.0204 NA NA NA NA 0 C ASP/ALA 30,3816 0,30,1893 94 87 89 1889 4.9 0.3 10 dbSNP_111 89 111,8153 1,109,4022 yes missense FAM208B NM_017782.4 126 1,139,5915 AA,AC,CC 1.3432,0.78,1.1643 probably-damaging 630/2431 5782022 141,11969 1923 4132 6055 SO:0001583 missense BX649177 CCDS41485.1 10p15.1 2011-09-14 2011-09-14 2011-09-14 ENSG00000108021 ENSG00000108021 54906 23484 protein-coding gene gene with protein product chromosome 10 open reading frame 18 C10orf18 NA 12477932 Standard NM_017782 NM_017782 NA Approved FLJ20360, bA318E3.2, KIAA2006 uc001iij.3 Q5VWN6 OTTHUMG00000017605 ENST00000328090.5:c.1889C>A chr10.hg19:g.5782022C>A ENSP00000328426:p.Ala630Asp NA Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1 hg19 CCDS41485.1 0.02 13.147457 AAGxCCA COVERED 132 0.06043956043956044 9 0.018292682926829267 48 0.13259668508287292 65 0.11363636363636363 10 0.013192612137203167 C 12.65 2.002431 0.35320 0.0078 0.013432 ENSG00000108021 ENST00000328090 T 0.47869 0.83 5.84 4.9 0.64082 . 0.518933 0.19296 N 0.117743 T 0.01029 0.0034 M 0.68317 2.08 0.80722 P 0.0 D 0.58970 0.984 P 0.62184 0.899 T 0.44097 -0.9350 9 0.72032 D 0.01 . 7.2779 0.26294 0.0:0.7536:0.0:0.2464 rs4748636;rs52833459;rs4748636 630 Q5VWN6 F208B_HUMAN D 630 ENSP00000328426:A630D ENSP00000328426:A630D A + 2 0 C10orf18 5822028 0.001000 0.12720 0.306000 0.25113 0.091000 0.18340 1.307000 0.33516 1.386000 0.46466 0.591000 0.81541 GCC NOVEL FAM208B-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000046571.2 1 17.156222 KEEP 0 0 0 57 2053 CC 1 1 0 + 16 60 582 0 0 38.326396 301 60 11126 444 ENST00000328090.5 0.050473 1 FAM208B 54906 __UNKNOWN__ __UNKNOWN__ 10 5800811 5800811 __UNKNOWN__ Intron SNP A A C rs2246268 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:5800811A>C ENST00000328090.5 + 18 7511 NM_017782.4 NP_060252 Q5VWN6 F208B_HUMAN family with sequence similarity 208, member B NA NA NA AAGTACCTTAAACTTGTCATC 0.353 NA A||| 1074 0.214457 0.2731 0.072 5008 , , NA 23343 0.4325 NA 0.0199 False NA ,,, NA NA NA 2504 0.2117 NA NA NA NA 0 A 777,2947 76,625,1161 64 60 61 -1.1 0 10 dbSNP_100 61 24,8168 0,24,4072 no intron FAM208B NM_017782.4 76,649,5233 CC,CA,AA 0.293,20.8647,6.7221 5800811 801,11115 1862 4096 5958 SO:0001627 intron_variant BX649177 CCDS41485.1 10p15.1 2011-09-14 2011-09-14 2011-09-14 ENSG00000108021 ENSG00000108021 54906 23484 protein-coding gene gene with protein product chromosome 10 open reading frame 18 C10orf18 NA 12477932 Standard NM_017782 NM_017782 NA Approved FLJ20360, bA318E3.2, KIAA2006 uc001iij.3 Q5VWN6 OTTHUMG00000017605 ENST00000328090.5:c.6887-39A>C chr10.hg19:g.5800811A>C NA Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1 hg19 CCDS41485.1 0.02 4.108976 TTAxACT COVERED NOVEL FAM208B-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000046571.2 1 6.319732 KEEP 0 0 0 21 680 AA 0.999869 0.999869 0 + 7 60 258 0 0 17.233721 126 60 4483 173 ENST00000328090.5 0.052632 1 IL15RA 3601 __UNKNOWN__ __UNKNOWN__ 10 6000259 6000259 __UNKNOWN__ Intron SNP T T C rs17320853 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:6000259T>C ENST00000379977.3 - 5 714 IL15RA_ENST00000379971.1_Intron|IL15RA_ENST00000530685.1_Intron|IL15RA_ENST00000397255.3_Intron|IL15RA_ENST00000534292.1_Intron|IL15RA_ENST00000525219.2_Intron|IL15RA_ENST00000397250.2_Intron|IL15RA_ENST00000528354.1_Intron|IL15RA_ENST00000397251.3_Intron|IL15RA_ENST00000397248.2_Intron Q13261 I15RA_HUMAN interleukin 15 receptor, alpha NA NA cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|negative regulation of neuron projection development (GO:0010977)|positive regulation of natural killer cell differentiation (GO:0032825)|response to nutrient levels (GO:0031667)|signal transduction (GO:0007165) cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886) cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871) cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 5 TATGTTTATTTATACAGTCTC 0.413 NA T||| 720 0.14377 0.1611 0.1153 5008 , , NA 20387 0.124 NA 0.1789 False NA ,,, NA NA NA 2504 0.1247 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U31628 CCDS7074.1, CCDS7075.1, CCDS7075.2, CCDS58069.1, CCDS73065.1 10p15.1 2012-02-27 ENSG00000134470 ENSG00000134470 3601 Interleukins and interleukin receptors, CD molecules 5978 protein-coding gene gene with protein product 601070 NA 8530383 Standard NM_172200, NM_002189 NM_002189 NA Approved CD215, IL-15RA uc021pmo.1 Q13261 OTTHUMG00000017612 ENST00000379977.3:c.616+1457A>G chr10.hg19:g.6000259T>C NA B4E2C2|Q3B769|Q5JVA1|Q5JVA2|Q5JVA4|Q6B0J2|Q7LDR4|Q7Z609 hg19 CCDS7074.1 0.02 7.112889 ATTxATA COVERED NOVEL IL15RA-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000046615.2 1 4.54747 KEEP 0 1 28 25 792 TT 0.999957 0.999957 0 - 9 60 342 0 0 22.80627 179 60 6616 277 ENST00000379977.3 0.047872 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 6041923 6041923 __UNKNOWN__ IGR SNP T T C rs10905599 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:6041923T>C NA NA IL15RA (21909 upstream) : IL2RA (10728 downstream) NA NA NA GGCTTTTGGGTATCACAACTG 0.522 NA T||| 1267 0.252995 0.1778 0.2089 5008 , , NA 19757 0.3591 NA 0.2247 False NA ,,, NA NA NA 2504 0.3057 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.6041923T>C NA hg19 0.02 6.403572 GGGxATC COVERED NOVEL 0 2 2.271933 KEEP 0 2 70 32 950 TT 0.999999 0.999999 0 6 60 226 0 0 14.074425 172 60 5908 260 0.033708 1 RBM17 84991 __UNKNOWN__ __UNKNOWN__ 10 6143382 6143382 __UNKNOWN__ Intron SNP G G A rs201387510 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:6143382G>A ENST00000446108.1 + 3 884 RBM17_ENST00000379888.4_Intron NM_001145547.1 NP_001139019.1 Q96I25 SPF45_HUMAN RNA binding motif protein 17 NA NA alternative mRNA splicing, via spliceosome (GO:0000380) cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681) nucleotide binding (GO:0000166)|RNA binding (GO:0003723) NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2) 19 AGCTTGATACGTGTCTCTGTT 0.507 NA A||| 4 0.000798722 0.0 0.0 5008 , , NA 16582 0.004 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 A , 0,4406 0,0,2203 37 34 35 , -3.7 0 10 dbSNP_134 35 1,8599 816.4+/-406.9 0,1,4299 no intron,intron RBM17 NM_001145547.1,NM_032905.4 , 0,1,6502 AA,AG,GG 0.0116,0.0,0.0077 , , 6143382 1,13005 2203 4300 6503 SO:0001627 intron_variant AF083384 CCDS7077.1 10p15.1 2013-01-28 ENSG00000134453 ENSG00000134453 84991 RNA binding motif (RRM) containing, G patch domain containing 16944 protein-coding gene gene with protein product splicing factor 45kDa 606935 NA 9731529 Standard NM_032905 NM_032905 NA Approved SPF45, MGC14439 uc001ijb.3 Q96I25 OTTHUMG00000017618 ENST00000446108.1:c.240+32G>A chr10.hg19:g.6143382G>A NA Q96GY6 hg19 CCDS7077.1 0.02 4.452233 TACxTGT COVERED NOVEL RBM17-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000046635.1 1 13.844673 KEEP 0 0 0 46 1588 GG 1 1 0 + 5 60 196 0 0 12.818063 123 60 4463 215 ENST00000446108.1 0.039062 1 PFKFB3 5209 __UNKNOWN__ __UNKNOWN__ 10 6270366 6270366 __UNKNOWN__ Intron SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:6270366G>A ENST00000379775.4 + 14 1845 PFKFB3_ENST00000379789.4_Intron|PFKFB3_ENST00000536985.1_Intron|PFKFB3_ENST00000540253.1_Intron|PFKFB3_ENST00000360521.2_Intron|PFKFB3_ENST00000379785.1_Intron|PFKFB3_ENST00000379782.3_Intron NM_004566.3 NP_004557.1 Q16875 F263_HUMAN 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 NA NA carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|nucleus (GO:0005634) 6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331) central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1) 22 GGAAAAGCGTGCAGGCGGTCA 0.582 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS7078.1, CCDS44353.1, CCDS60479.1 10p15.1 2008-05-14 ENSG00000170525 ENSG00000170525 5209 8874 protein-coding gene gene with protein product 605319 NA 9146922, 10072580 Standard NM_004566 NA Approved uc001ije.3 Q16875 OTTHUMG00000017621 ENST00000379775.4:c.1515+2038G>A chr10.hg19:g.6270366G>A NA B7Z955|O43622|O75902|Q5VX15|Q5VX18|Q5VX19 hg19 CCDS7078.1 0.02 3.385881 CGTxCAG COVERED NOVEL PFKFB3-002 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000046647.1 2 3.009228 KEEP 0 0 0 10 336 GG 0.992708 0.992708 0 + 5 60 174 0 0 10.4893 131 60 4860 151 ENST00000379775.4 0.036765 1 CELF2 10659 __UNKNOWN__ __UNKNOWN__ 10 11299607 11299607 __UNKNOWN__ Intron SNP A A G rs56183744|rs201899312 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:11299607A>G ENST00000417956.2 + 5 350 CELF2_ENST00000609692.1_Intron|CELF2_ENST00000315874.4_Intron|CELF2_ENST00000450189.1_Intron|CELF2_ENST00000416382.2_Intron|CELF2_ENST00000542579.1_Intron|CELF2_ENST00000427450.1_Intron|CELF2_ENST00000537122.1_Intron|CELF2_ENST00000354440.2_Intron|CELF2_ENST00000608830.1_Intron|CELF2_ENST00000379261.4_Intron|CELF2_ENST00000354897.3_Intron|CELF2_ENST00000399850.3_Intron O95319 CELF2_HUMAN CUGBP, Elav-like family member 2 NA NA mRNA processing (GO:0006397)|regulation of heart contraction (GO:0008016)|RNA processing (GO:0006396) cytoplasm (GO:0005737)|nucleus (GO:0005634) nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723) breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 16 TTGGTCTCACATGGCTGGGGC 0.527 NA A||| 450 0.0898562 0.0643 0.1023 5008 , , NA 17013 0.0069 NA 0.2296 False NA ,,, NA NA NA 2504 0.0573 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U69546 CCDS41488.1, CCDS44354.1, CCDS44355.1, CCDS44356.1 10p13 2013-02-12 2010-02-19 2010-02-19 ENSG00000048740 ENSG00000048740 10659 RNA binding motif (RRM) containing 2550 protein-coding gene gene with protein product 602538 CUG triplet repeat, RNA-binding protein 2, CUG triplet repeat, RNA binding protein 2 CUGBP2 NA 7869393, 9887331 Standard NM_006561 NA Approved Etr-3, NAPOR-2, BRUNOL3 uc001ikl.4 O95319 OTTHUMG00000017668 ENST00000417956.2:c.311-94A>G chr10.hg19:g.11299607A>G NA B7ZAN9|Q7KYU4|Q8N499|Q92950|Q96NW9|Q96RQ5|Q96RQ6|Q9UL67 hg19 CCDS44356.1 0.02 4.312887 CACxTGG COVERED NOVEL CELF2-204 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000472305.1 0 9.307162 KEEP 0 0 0 31 943 AA 0.999997 0.999997 0 + 8 60 294 0 0 19.830552 135 60 4854 212 ENST00000417956.2 0.055944 1 USP6NL 9712 __UNKNOWN__ __UNKNOWN__ 10 11505175 11505175 __UNKNOWN__ Silent SNP A A G rs3740204 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:11505175A>G ENST00000609104.1 - 15 2146 c.1752T>C c.(1750-1752)ccT>ccC p.P584P USP6NL_ENST00000277575.5_Silent_p.P601P|USP6NL_ENST00000379237.2_Silent_p.P607P NM_014688.2 NP_055503.1 Q92738 US6NL_HUMAN USP6 N-terminal like 584 NA Golgi organization (GO:0007030)|plasma membrane to endosome transport (GO:0048227)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of Golgi organization (GO:1903358)|retrograde transport, plasma membrane to Golgi (GO:0035526)|virion assembly (GO:0019068) cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886) Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137) endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1) 32 TTCTCGGGCTAGGAGGGTAAA 0.567 NA G||| 2501 0.499401 0.5772 0.2997 5008 , , NA 18328 0.7351 NA 0.3042 False NA ,,, NA NA NA 2504 0.4939 NA NA NA NA 0 G , 2008,1898 504,1000,449 47 49 48 1803,1752 -1.2 0 10 dbSNP_107 48 2613,5693 402,1809,1942 no coding-synonymous,coding-synonymous USP6NL NM_001080491.2,NM_014688.2 , 906,2809,2391 GG,GA,AA 31.4592,48.5919,37.8398 , 601/846,584/829 11505175 4621,7591 1953 4153 6106 SO:0001819 synonymous_variant BC010351 CCDS44357.1, CCDS53492.1 10p13 2013-07-09 ENSG00000148429 ENSG00000148429 9712 16858 protein-coding gene gene with protein product related to the N terminus of tre 605405 USP6NL intronic transcript 1 (non-protein coding) USP6NL-IT1 NA 8700515, 8700527, 12399475 Standard NM_014688 XR_247492 NA Approved RNTRE, KIAA0019, TRE2NL, RN-tre uc001iks.1 Q92738 OTTHUMG00000017672 ENST00000609104.1:c.1752T>C chr10.hg19:g.11505175A>G NA A8KA79|Q15400|Q5VV10|Q7L0K9 hg19 CCDS53492.1 0.02 9.828357 GCTxGGA COVERED NOVEL USP6NL-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000046764.3 1 12.268389 KEEP 0 1 35 53 1614 AA 1 1 0 - 8 60 314 0 0 20.31226 211 60 7764 318 ENST00000609104.1 0.03653 1 USP6NL 9712 __UNKNOWN__ __UNKNOWN__ 10 11639703 11639703 __UNKNOWN__ 5'UTR SNP G G A rs77896587 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:11639703G>A ENST00000609104.1 - 0 325 NM_014688.2 NP_055503.1 Q92738 US6NL_HUMAN USP6 N-terminal like NA NA Golgi organization (GO:0007030)|plasma membrane to endosome transport (GO:0048227)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of Golgi organization (GO:1903358)|retrograde transport, plasma membrane to Golgi (GO:0035526)|virion assembly (GO:0019068) cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886) Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137) endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1) 32 AGGTTTCTCAGAGGAATACAT 0.348 NA G||| 18 0.00359425 0.0 0.0 5008 , , NA 18126 0.0179 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 91 74 79 NA NA 10 NA 11639703 692 1591 2283 SO:0001623 5_prime_UTR_variant BC010351 CCDS44357.1, CCDS53492.1 10p13 2013-07-09 ENSG00000148429 ENSG00000148429 9712 16858 protein-coding gene gene with protein product related to the N terminus of tre 605405 USP6NL intronic transcript 1 (non-protein coding) USP6NL-IT1 NA 8700515, 8700527, 12399475 Standard NM_014688 XR_247492 NA Approved RNTRE, KIAA0019, TRE2NL, RN-tre uc001iks.1 Q92738 OTTHUMG00000017672 ENST00000609104.1:c.-70C>T chr10.hg19:g.11639703G>A NA A8KA79|Q15400|Q5VV10|Q7L0K9 hg19 CCDS53492.1 0.02 23.379906 TCAxAGG COVERED NOVEL USP6NL-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000046764.3 4 21.602503 KEEP 0 1 23 80 2787 GG 1 1 0 - 18 60 639 0 1 37.079035 607 60 22944 835 ENST00000609104.1 0.0288 1 PROSER2 254427 __UNKNOWN__ __UNKNOWN__ 10 11894011 11894011 __UNKNOWN__ 5'UTR SNP G G A rs561292476 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:11894011G>A ENST00000277570.5 + 0 89 PROSER2_ENST00000474155.1_3'UTR|PROSER2-AS1_ENST00000445498.1_RNA NM_153256.3 NP_694988.3 Q86WR7 PRSR2_HUMAN proline and serine rich 2 NA NA NA AGCTGTTGCCGCAGAATGGGC 0.527 NA G||| 1 0.000199681 0.0 0.0 5008 , , NA 18859 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant BC017269 CCDS7085.1 10p14 2014-02-19 2014-02-19 2012-12-05 ENSG00000148426 ENSG00000148426 254427 23728 protein-coding gene gene with protein product chromosome 10 open reading frame 47, proline and serine-rich protein 2 C10orf47 NA 12477932 Standard NM_153256 NM_153256 NA Approved MGC35403 uc001ikx.3 Q86WR7 OTTHUMG00000017673 ENST00000277570.5:c.-66G>A chr10.hg19:g.11894011G>A NA D3DRR8|Q5W0J9|Q5W0K0|Q5W0K1|Q5W0K2|Q6PJC8|Q8N317 hg19 CCDS7085.1 0.02 4.0052 GCCxCAG COVERED NOVEL PROSER2-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000090189.2 1 4.514408 KEEP 0 0 0 15 511 GG 0.99649 0.99649 0 + 7 60 245 0 0 15.677419 138 60 4703 185 ENST00000277570.5 0.048276 1 NUDT5 11164 __UNKNOWN__ __UNKNOWN__ 10 12215853 12215853 __UNKNOWN__ Intron SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:12215853C>T ENST00000491614.1 - 6 685 NUDT5_ENST00000537776.1_Intron|NUDT5_ENST00000378940.3_Intron|NUDT5_ENST00000378927.3_Intron|NUDT5_ENST00000378952.3_Intron|NUDT5_ENST00000378937.3_Intron Q9UKK9 NUDT5_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 5 NA NA D-ribose catabolic process (GO:0019303)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|ribonucleoside diphosphate catabolic process (GO:0009191)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634) ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)|magnesium ion binding (GO:0000287)|nucleoside-diphosphatase activity (GO:0017110)|snoRNA binding (GO:0030515) breast(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1) 8 Renal(717;0.228) GCGGGAAATCCGGTTCTTTAA 0.517 NA NA NA NA NA NA NA NA NA NA NA 0 77 80 79 NA NA 10 NA 12215853 2203 4300 6503 SO:0001627 intron_variant AF155832 CCDS7089.1 10p14 2008-05-14 ENSG00000165609 ENSG00000165609 11164 Nudix motif containing 8052 protein-coding gene gene with protein product 609230 NA 10373642 Standard NM_014142 NA Approved hYSAH1, YSA1H uc001ilj.3 Q9UKK9 OTTHUMG00000017682 ENST00000491614.1:c.290-41G>A chr10.hg19:g.12215853C>T NA A8K516|Q6IAG0|Q9UH49 hg19 CCDS7089.1 0.02 2.194581 ATCxGGT COVERED NOVEL NUDT5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000046811.1 1 4.51418 KEEP 0 0 0 15 492 CC 0.99649 0.995603 0 - 4 60 147 0 0 9.737666 75 60 2339 99 ENST00000491614.1 0.050633 0.99911 CDC123 8872 __UNKNOWN__ __UNKNOWN__ 10 12288302 12288302 __UNKNOWN__ Intron SNP A A G rs36042706 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:12288302A>G ENST00000281141.4 + 11 1126 CDC123_ENST00000455773.3_Intron|RP11-186N15.3_ENST00000421657.1_RNA|CDC123_ENST00000378900.2_Intron NM_006023.2 NP_006014.2 O75794 CD123_HUMAN cell division cycle 123 NA NA cell cycle arrest (GO:0007050)|cell division (GO:0051301)|positive regulation of cell proliferation (GO:0008284)|regulation of mitotic cell cycle (GO:0007346) cytoplasm (GO:0005737) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 12 GACAGATACAATGTAAACCTT 0.458 NA a||| 2150 0.429313 0.3086 0.5245 5008 , , NA 21531 0.3264 NA 0.5517 False NA ,,, NA NA NA 2504 0.5051 NA NA NA NA 0 - 1508,2898 478.3+/-358.2 259,990,954 95 82 87 -2 0 10 dbSNP_126 87 4883,3717 618.8+/-396.8 1409,2065,826 no intron CDC123 NM_006023.2 1668,3055,1780 GG,GA,AA 43.2209,34.2261,49.1389 12288302 6391,6615 2203 4300 6503 SO:0001627 intron_variant BC001600 CCDS7090.1 10p13 2013-01-17 2013-01-17 2006-11-06 ENSG00000151465 ENSG00000151465 8872 16827 protein-coding gene gene with protein product chromosome 10 open reading frame 7, cell division cycle 123 homolog (S. cerevisiae) C10orf7 NA 15319434 Standard NM_006023 NM_006023 NA Approved D123 uc001ill.3 O75794 OTTHUMG00000017680 ENST00000281141.4:c.846+26A>G chr10.hg19:g.12288302A>G NA A8JZZ7|Q14107|Q5T0L4|Q5T0L5|Q5T0L7|Q5T0L8|Q5T0L9 hg19 CCDS7090.1 0.02 9.980874 ACAxTGT COVERED NOVEL CDC123-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000046801.1 2 12.635691 KEEP 0 0 0 42 1285 AA 1 1 0 + 9 60 352 0 0 23.30598 204 60 7502 311 ENST00000281141.4 0.042254 1 CDC123 8872 __UNKNOWN__ __UNKNOWN__ 10 12292454 12292454 __UNKNOWN__ 3'UTR SNP A A G rs1051055 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:12292454A>G ENST00000281141.4 + 0 1409 NM_006023.2 NP_006014.2 O75794 CD123_HUMAN cell division cycle 123 NA NA cell cycle arrest (GO:0007050)|cell division (GO:0051301)|positive regulation of cell proliferation (GO:0008284)|regulation of mitotic cell cycle (GO:0007346) cytoplasm (GO:0005737) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 12 GACATCAGCCACTTTTTATAT 0.493 NA G||| 3460 0.690895 0.7655 0.7075 5008 , , NA 13336 0.5942 NA 0.6561 False NA ,,, NA NA NA 2504 0.7137 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC001600 CCDS7090.1 10p13 2013-01-17 2013-01-17 2006-11-06 ENSG00000151465 ENSG00000151465 8872 16827 protein-coding gene gene with protein product chromosome 10 open reading frame 7, cell division cycle 123 homolog (S. cerevisiae) C10orf7 NA 15319434 Standard NM_006023 NM_006023 NA Approved D123 uc001ill.3 O75794 OTTHUMG00000017680 ENST00000281141.4:c.*118A>G chr10.hg19:g.12292454A>G NA A8JZZ7|Q14107|Q5T0L4|Q5T0L5|Q5T0L7|Q5T0L8|Q5T0L9 hg19 CCDS7090.1 0.02 18.835318 GCCxCTT COVERED 1543 0.7065018315018315 392 0.7967479674796748 267 0.7375690607734806 389 0.6800699300699301 495 0.6530343007915568 G 0.007 -1.971063 0.00457 . . ENSG00000151465 ENST00000455773 . . . 5.91 2.94 0.34122 . . . . . T 0.00012 0.0000 . . . 0.58432 P 1.999999999946489E-6 . . . . . . T 0.17107 -1.0380 4 0.87932 D 0 . 5.9405 0.19189 0.2306:0.136:0.6334:0.0 rs1051055;rs2070067;rs56620919;rs58365908;rs1051055 . . . R 286 . ENSP00000415803:H286R H + 2 0 CDC123 12332460 0.746000 0.28272 0.024000 0.17045 0.004000 0.04260 1.243000 0.32767 0.402000 0.25451 -0.119000 0.15052 CAC NOVEL CDC123-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000046801.1 1 12.634101 KEEP 0 3 106 79 2343 AA 1 1 0 + 20 60 712 0 0 46.32294 398 60 14087 614 ENST00000281141.4 0.047847 1 CAMK1D 57118 __UNKNOWN__ __UNKNOWN__ 10 12695232 12695232 __UNKNOWN__ Intron SNP A A G rs7896394 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:12695232A>G ENST00000378847.3 + 3 561 CAMK1D_ENST00000378845.1_Intron|CAMK1D_ENST00000487696.1_Intron NM_153498.2 NP_705718.1 Q8IU85 KCC1D_HUMAN calcium/calmodulin-dependent protein kinase ID NA NA inflammatory response (GO:0006954)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis (GO:0050766)|positive regulation of respiratory burst (GO:0060267)|regulation of dendrite development (GO:0050773)|regulation of granulocyte chemotaxis (GO:0071622) calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|nucleus (GO:0005634) ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683) endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1) 16 GBM - Glioblastoma multiforme(1;3.16e-05) gggttaatctattcataaggg 0.473 NA A||| 257 0.0513179 0.0227 0.0245 5008 , , NA 18657 0.0645 NA 0.0179 False NA ,,, NA NA NA 2504 0.1299 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF286366 CCDS7091.1, CCDS7092.1 10p13 2003-11-05 ENSG00000183049 ENSG00000183049 57118 19341 protein-coding gene gene with protein product 607957 NA 11050006 Standard NM_020397 XM_006717481 NA Approved CKLiK uc001ilo.3 Q8IU85 OTTHUMG00000017683 ENST00000378847.3:c.225-13503A>G chr10.hg19:g.12695232A>G NA B0YIY0|Q9HD31 hg19 CCDS7091.1 0.02 2.369892 TCTxTTC COVERED NOVEL CAMK1D-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000046820.1 1 3.00904 KEEP 0 0 0 10 310 AA 0.992708 0.978962 0 + 4 60 154 0 0 10.957682 55 60 2019 88 ENST00000378847.3 0.067797 0.986153 CAMK1D 57118 __UNKNOWN__ __UNKNOWN__ 10 12874137 12874137 __UNKNOWN__ 3'UTR SNP G G A rs3814651 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:12874137G>A ENST00000378847.3 + 0 4746 NM_153498.2 NP_705718.1 Q8IU85 KCC1D_HUMAN calcium/calmodulin-dependent protein kinase ID NA NA inflammatory response (GO:0006954)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis (GO:0050766)|positive regulation of respiratory burst (GO:0060267)|regulation of dendrite development (GO:0050773)|regulation of granulocyte chemotaxis (GO:0071622) calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|nucleus (GO:0005634) ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683) endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1) 16 GBM - Glioblastoma multiforme(1;3.16e-05) TGTTGAAGTAGTGGCCTGGAG 0.512 NA G||| 618 0.123403 0.003 0.1628 5008 , , NA 19892 0.3512 NA 0.0119 False NA ,,, NA NA NA 2504 0.138 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF286366 CCDS7091.1, CCDS7092.1 10p13 2003-11-05 ENSG00000183049 ENSG00000183049 57118 19341 protein-coding gene gene with protein product 607957 NA 11050006 Standard NM_020397 XM_006717481 NA Approved CKLiK uc001ilo.3 Q8IU85 OTTHUMG00000017683 ENST00000378847.3:c.*3251G>A chr10.hg19:g.12874137G>A NA B0YIY0|Q9HD31 hg19 CCDS7091.1 0.02 10.967285 GTAxTGG COVERED NOVEL CAMK1D-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000046820.1 3 13.242479 KEEP 0 0 0 44 1547 GG 1 1 0 + 8 60 303 0 0 18.621429 251 70 9345 356 ENST00000378847.3 0.030888 1 CAMK1D 57118 __UNKNOWN__ __UNKNOWN__ 10 12875208 12875208 __UNKNOWN__ 3'UTR SNP C C T rs10906233 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:12875208C>T ENST00000378847.3 + 0 5817 NM_153498.2 NP_705718.1 Q8IU85 KCC1D_HUMAN calcium/calmodulin-dependent protein kinase ID NA NA inflammatory response (GO:0006954)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis (GO:0050766)|positive regulation of respiratory burst (GO:0060267)|regulation of dendrite development (GO:0050773)|regulation of granulocyte chemotaxis (GO:0071622) calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|nucleus (GO:0005634) ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683) endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1) 16 GBM - Glioblastoma multiforme(1;3.16e-05) TTACCTACCCCGTACTCATCC 0.552 NA C||| 968 0.193291 0.1415 0.2104 5008 , , NA 16912 0.4603 NA 0.0199 False NA ,,, NA NA NA 2504 0.1544 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF286366 CCDS7091.1, CCDS7092.1 10p13 2003-11-05 ENSG00000183049 ENSG00000183049 57118 19341 protein-coding gene gene with protein product 607957 NA 11050006 Standard NM_020397 XM_006717481 NA Approved CKLiK uc001ilo.3 Q8IU85 OTTHUMG00000017683 ENST00000378847.3:c.*4322C>T chr10.hg19:g.12875208C>T NA B0YIY0|Q9HD31 hg19 CCDS7091.1 0.02 12.034317 CCCxGTA COVERED NOVEL CAMK1D-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000046820.1 6 26.174223 KEEP 0 0 0 87 2907 CC 1 1 0 + 15 60 565 0 0 38.409236 259 60 9229 476 ENST00000378847.3 0.054745 1 CAMK1D 57118 __UNKNOWN__ __UNKNOWN__ 10 12875503 12875503 __UNKNOWN__ 3'UTR SNP C C T rs58293668 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:12875503C>T ENST00000378847.3 + 0 6112 NM_153498.2 NP_705718.1 Q8IU85 KCC1D_HUMAN calcium/calmodulin-dependent protein kinase ID NA NA inflammatory response (GO:0006954)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis (GO:0050766)|positive regulation of respiratory burst (GO:0060267)|regulation of dendrite development (GO:0050773)|regulation of granulocyte chemotaxis (GO:0071622) calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|nucleus (GO:0005634) ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683) endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1) 16 GBM - Glioblastoma multiforme(1;3.16e-05) CTCTCCCTCTCCCCCAGAACC 0.502 NA C||| 616 0.123003 0.003 0.1614 5008 , , NA 18979 0.3492 NA 0.0119 False NA ,,, NA NA NA 2504 0.1391 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF286366 CCDS7091.1, CCDS7092.1 10p13 2003-11-05 ENSG00000183049 ENSG00000183049 57118 19341 protein-coding gene gene with protein product 607957 NA 11050006 Standard NM_020397 XM_006717481 NA Approved CKLiK uc001ilo.3 Q8IU85 OTTHUMG00000017683 ENST00000378847.3:c.*4617C>T chr10.hg19:g.12875503C>T NA B0YIY0|Q9HD31 hg19 CCDS7091.1 0.02 2.029766 TCTxCCC COVERED NOVEL CAMK1D-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000046820.1 1 6.914344 KEEP 0 0 0 23 758 CC 0.999892 0.998357 0 + 6 60 219 0 0 15.684582 69 60 2623 121 ENST00000378847.3 0.08 0.998465 OPTN 10133 __UNKNOWN__ __UNKNOWN__ 10 13152400 13152400 __UNKNOWN__ Missense_Mutation SNP T T A rs11258194 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:13152400T>A ENST00000378748.3 + 5 655 c.293T>A c.(292-294)aTg>aAg p.M98K OPTN_ENST00000378764.2_Missense_Mutation_p.M98K|OPTN_ENST00000378757.2_Missense_Mutation_p.M98K|OPTN_ENST00000263036.5_Missense_Mutation_p.M98K|OPTN_ENST00000482140.1_Intron|OPTN_ENST00000378747.3_Missense_Mutation_p.M98K|OPTN_ENST00000378752.3_Missense_Mutation_p.M98K NM_001008211.1|NM_001008213.1 NP_001008212|NP_001008214 Q96CV9 OPTN_HUMAN optineurin 98 Interaction with Rab8. NA M -> K (may modify intraocular pressure and increase risk of GLC1E and NPG, induces TFRC degradation leading to autophagic death in retinal ganglion cells; may be a common polymorphism; dbSNP:rs11258194). {ECO:0000269|PubMed:11834836, ECO:0000269|PubMed:14627677, ECO:0000269|PubMed:15498064, ECO:0000269|PubMed:15557444}. cell death (GO:0008219)|defense response to Gram-negative bacterium (GO:0050829)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi organization (GO:0007030)|Golgi ribbon formation (GO:0090161)|Golgi to plasma membrane protein transport (GO:0043001)|macroautophagy (GO:0016236)|mitotic cell cycle (GO:0000278)|negative regulation of receptor recycling (GO:0001920)|protein targeting to Golgi (GO:0000042)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802) polyubiquitin binding (GO:0031593)|protein C-terminus binding (GO:0008022)|Rab GTPase binding (GO:0017137) breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 22 GAGCGTCTAATGGCCTTGAGT 0.433 NA T||| 394 0.0786741 0.1301 0.0259 5008 , , NA 22408 0.1359 NA 0.0308 False NA ,,, NA NA NA 2504 0.0368 NA NA NA NA 0 GRCh37 CM020163 OPTN M rs11258194 T LYS/MET,LYS/MET,LYS/MET,LYS/MET 518,3888 236.8+/-248.8 27,464,1712 105 117 113 http://www.ncbi.nlm.nih.gov/sites/varvu?gene 293,293,293,293 3.6 0.4 10 dbSNP_120 113 277,8323 103.8+/-164.8 6,265,4029 yes missense,missense,missense,missense OPTN NM_001008211.1,NM_001008212.1,NM_001008213.1,NM_021980.4 95,95,95,95 33,729,5741 AA,AT,TT 3.2209,11.7567,6.1126 benign,benign,benign,benign 98/578,98/578,98/578,98/578 13152400 795,12211 2203 4300 6503 SO:0001583 missense AF420371 CCDS7094.1 10p14 2014-01-28 2003-09-08 ENSG00000123240 ENSG00000123240 10133 17142 protein-coding gene gene with protein product 602432 glaucoma 1, open angle, E (adult-onset) GLC1E NA 11834836, 9488477 Standard NM_021980 NM_001008211 NA Approved FIP2, HYPL, FIP-2, TFIIIA-INTP, NRP, HIP7 uc001ilx.1 Q96CV9 OTTHUMG00000017690 ENST00000378748.3:c.293T>A chr10.hg19:g.13152400T>A ENSP00000368022:p.Met98Lys NA B3KP00|D3DRS4|D3DRS8|Q5T672|Q5T673|Q5T674|Q5T675|Q7LDL9|Q8N562|Q9UET9|Q9UEV4|Q9Y218 hg19 CCDS7094.1 0.02 13.214135 TAAxGGC COVERED 148 0.06776556776556776 54 0.10975609756097561 11 0.03038674033149171 63 0.11013986013986014 20 0.026385224274406333 T 0.187 -1.056960 0.01965 0.117567 0.032209 ENSG00000123240 ENST00000263036;ENST00000378764;ENST00000378757;ENST00000378752;ENST00000378748;ENST00000430081;ENST00000378747 T;T;T;T;T;T;T 0.80738 -1.41;-1.41;-1.41;-1.41;-1.41;-1.41;-1.41 5.98 3.62 0.41486 NF-kappa-B essential modulator NEMO, N-terminal (1); 0.586858 0.21037 N 0.081226 T 0.00875 0.0029 N 0.02011 -0.69 0.80722 P 0.0 B;B 0.06786 0.001;0.001 B;B 0.11329 0.004;0.006 T 0.10753 -1.0616 9 0.06099 T 0.92 -3.4751 4.5064 0.11891 0.1498:0.1647:0.0:0.6855 rs11258194;rs45467004;rs52829303 98;98 Q96CV9-2;Q96CV9 .;OPTN_HUMAN K 98;98;98;98;98;41;98 ENSP00000263036:M98K;ENSP00000368040:M98K;ENSP00000368032:M98K;ENSP00000368027:M98K;ENSP00000368022:M98K;ENSP00000414747:M41K;ENSP00000368021:M98K ENSP00000263036:M98K M + 2 0 OPTN 13192406 0.000000 0.05858 0.405000 0.26409 0.498000 0.33706 0.084000 0.14891 0.492000 0.27815 0.533000 0.62120 ATG NOVEL OPTN-005 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000046834.1 3 36.109958 KEEP 0 0 0 120 3824 TT 1 1 0 + 13 60 475 0 0 29.891467 319 60 11846 579 ENST00000378748.3 0.039157 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 13199089 13199089 __UNKNOWN__ IGR SNP G G A rs11258224 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:13199089G>A NA NA OPTN (18798 upstream) : MCM10 (4464 downstream) NA NA NA CTGAAGAAAAGCTAAGGACGA 0.418 NA A||| 1913 0.381989 0.4539 0.5043 5008 , , NA 20222 0.3839 NA 0.3062 False NA ,,, NA NA NA 2504 0.274 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.13199089G>A NA hg19 0.02 4.226264 AAAxCTA COVERED NOVEL 0 3 4.213789 KEEP 0 0 0 14 495 GG 0.995343 0.995343 0 8 60 289 0 0 19.641552 123 60 4706 162 0.061069 1 BEND7 222389 __UNKNOWN__ __UNKNOWN__ 10 13483868 13483868 __UNKNOWN__ Intron SNP C C G rs7902755 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:13483868C>G ENST00000341083.3 - 9 1378 BEND7_ENST00000396898.2_Intron|BEND7_ENST00000378605.3_Intron|BEND7_ENST00000396900.2_Intron|BEND7_ENST00000486542.1_Intron NM_152751.2 NP_689964.2 Q8N7W2 BEND7_HUMAN BEN domain containing 7 NA NA extracellular vesicular exosome (GO:0070062) breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1) 17 TGTAGCCCCCCAAAAGAAGAA 0.393 NA C||| 1389 0.277356 0.4039 0.2911 5008 , , NA 19573 0.1171 NA 0.2366 False NA ,,, NA NA NA 2504 0.3037 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC031618 CCDS7099.1, CCDS41490.1 10p14 2012-11-22 2008-10-03 2008-10-03 ENSG00000165626 ENSG00000165626 222389 BEN domain containing 23514 protein-coding gene gene with protein product chromosome 10 open reading frame 30 C10orf30 NA Standard NM_152751 NM_152751 NA Approved FLJ40283 uc001imm.2 Q8N7W2 OTTHUMG00000017699 ENST00000341083.3:c.1082-2371G>C chr10.hg19:g.13483868C>G NA Q5SYY7|Q5SYY8|Q5SYY9|Q8N5T7 hg19 CCDS7099.1 0.02 8.25236 CCCxAAA COVERED NOVEL BEND7-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000046863.1 0 3.912741 KEEP 0 0 0 13 457 CC 0.994391 0.994391 0 - 9 60 325 0 0 20.356391 218 60 7987 252 ENST00000341083.3 0.039648 1 FRMD4A 55691 __UNKNOWN__ __UNKNOWN__ 10 13735587 13735587 __UNKNOWN__ Intron SNP G G A rs737376 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:13735587G>A ENST00000357447.2 - 15 1486 FRMD4A_ENST00000492155.1_5'UTR|FRMD4A_ENST00000378503.1_Intron|FRMD4A_ENST00000358621.4_Intron NM_018027.3 NP_060497.3 Q9P2Q2 FRM4A_HUMAN FERM domain containing 4A NA NA establishment of epithelial cell polarity (GO:0090162) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923) breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 41 TGACATTCCCGACAGCTTGCC 0.517 NA G||| 1624 0.324281 0.1596 0.4092 5008 , , NA 18295 0.4117 NA 0.4254 False NA ,,, NA NA NA 2504 0.2924 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB037715 CCDS7101.1 10p14 2004-07-15 2004-07-15 2004-07-15 ENSG00000151474 ENSG00000151474 55691 25491 protein-coding gene gene with protein product FERM domain containing 4 FRMD4 NA 10718198 Standard NM_018027 NM_018027 NA Approved FLJ10210, KIAA1294, bA295P9.4 uc001ims.3 Q9P2Q2 OTTHUMG00000017708 ENST00000357447.2:c.1117+310C>T chr10.hg19:g.13735587G>A NA A7E2Y3|Q5T377 hg19 CCDS7101.1 0.02 6.823548 CCCxACA COVERED NOVEL FRMD4A-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000046889.1 2 5.416528 KEEP 0 0 0 18 587 GG 0.999859 0.999859 0 - 7 60 261 0 0 17.104094 146 60 4829 204 ENST00000357447.2 0.045752 1 FAM107B 83641 __UNKNOWN__ __UNKNOWN__ 10 14562980 14562980 __UNKNOWN__ 3'UTR SNP G G A rs12774550 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:14562980G>A ENST00000378470.1 - 0 891 FAM107B_ENST00000181796.2_3'UTR|FAM107B_ENST00000378458.2_3'UTR|FAM107B_ENST00000378465.3_3'UTR|FAM107B_ENST00000468747.1_3'UTR|FAM107B_ENST00000378467.4_3'UTR NM_001282695.1|NM_001282696.1|NM_001282697.1|NM_001282698.1|NM_001282700.1|NM_001282701.1|NM_001282702.1|NM_001282703.1 NP_001269624.1|NP_001269625.1|NP_001269626.1|NP_001269627.1|NP_001269629.1|NP_001269630.1|NP_001269631.1|NP_001269632.1 Q9H098 F107B_HUMAN family with sequence similarity 107, member B NA NA sensory perception of sound (GO:0007605) breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 ACTTACGTGCGGGGCACTGCC 0.458 NA G||| 689 0.13758 0.0446 0.121 5008 , , NA 18954 0.0764 NA 0.2306 False NA ,,, NA NA NA 2504 0.2423 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK127413 CCDS7102.1, CCDS60486.1 10p14 2006-01-17 2006-01-17 2005-11-20 ENSG00000065809 ENSG00000065809 83641 23726 protein-coding gene gene with protein product chromosome 10 open reading frame 45 C10orf45 NA 11230166 Standard NM_031453 XM_005252616 NA Approved FLJ45505, MGC11034 uc001ina.1 Q9H098 OTTHUMG00000017709 ENST00000378470.1:c.*209C>T chr10.hg19:g.14562980G>A NA A8K1P4|D3DRT2|Q5T9K7|Q5T9K8|Q6ZSI4 hg19 0.02 9.003396 TGCxGGG COVERED NOVEL FAM107B-002 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000046899.1 1 16.252327 KEEP 0 0 0 54 1888 GG 1 1 0 - 11 60 417 0 0 27.942416 211 60 7372 337 ENST00000378470.1 0.04955 1 SUV39H2 79723 __UNKNOWN__ __UNKNOWN__ 10 14940694 14940694 __UNKNOWN__ Intron SNP C C T rs7907802 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:14940694C>T ENST00000354919.6 + 4 849 DCLRE1C_ENST00000378289.4_3'UTR|SUV39H2_ENST00000378325.3_Intron|SUV39H2_ENST00000313519.5_Intron NM_001193424.1 NP_001180353.1 Q9H5I1 SUV92_HUMAN suppressor of variegation 3-9 homolog 2 (Drosophila) NA NA cell differentiation (GO:0030154)|chromatin assembly or disassembly (GO:0006333)|chromatin remodeling (GO:0006338)|histone H3-K9 dimethylation (GO:0036123)|histone H3-K9 trimethylation (GO:0036124)|male meiosis (GO:0007140)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351) chromatin (GO:0000785)|chromosome, centromeric region (GO:0000775)|nuclear heterochromatin (GO:0005720) chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270) breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1) 19 TTTCTTAAGCCGAGCGTGTCA 0.323 NA T||| 1804 0.360224 0.5446 0.2579 5008 , , NA 17072 0.3869 NA 0.1213 False NA ,,, NA NA NA 2504 0.4018 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK027067 CCDS7104.1, CCDS53493.1, CCDS53494.1 10p13 2011-07-01 ENSG00000152455 ENSG00000152455 79723 Chromatin-modifying enzymes / K-methyltransferases 17287 protein-coding gene gene with protein product 606503 NA 11094092 Standard NM_024670 NM_001193424 NA Approved FLJ23414, KMT1B uc021png.1 Q9H5I1 OTTHUMG00000017718 ENST00000354919.6:c.850-844C>T chr10.hg19:g.14940694C>T NA D3DRT4|Q5JSS4|Q5JSS5|Q6I9Y3|Q8ND06 hg19 CCDS53494.1 0.02 7.415124 AGCxGAG COVERED NOVEL SUV39H2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000046947.2 2 4.047159 KEEP 0 1 30 24 818 CC 0.999931 0.999931 0 + 10 60 372 0 0 25.597787 155 60 5436 230 ENST00000354919.6 0.060606 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 15050564 15050564 __UNKNOWN__ IGR SNP A A C rs34544074 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:15050564A>C NA NA MEIG1 (20515 upstream) : OLAH (35330 downstream) NA NA NA CTCTGCTATGAGACTGCATGT 0.507 NA .||| 1646 0.328674 0.41 0.4352 5008 , , NA 23072 0.2669 NA 0.3052 False NA ,,, NA NA NA 2504 0.2311 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.15050564A>C NA hg19 0.02 2.543339 ATGxGAC COVERED NOVEL 0 1 3.310398 KEEP 0 0 0 11 359 AT 0.993634 0.984655 0 4 60 142 0 0 9.670091 58 60 2116 89 0.064516 0.990964 FAM171A1 221061 __UNKNOWN__ __UNKNOWN__ 10 15255292 15255292 __UNKNOWN__ Silent SNP G G A rs3814168 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:15255292G>A ENST00000378116.4 - 8 2301 c.2295C>T c.(2293-2295)aaC>aaT p.N765N NM_001010924.1 NP_001010924.1 Q5VUB5 F1711_HUMAN family with sequence similarity 171, member A1 765 NA extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 52 CGGGCGGGTAGTTCTGCTGCA 0.552 NA G||| 219 0.04373 0.0741 0.0461 5008 , , NA 16842 0.0446 NA 0.0159 False NA ,,, NA NA NA 2504 0.0286 NA NA NA NA 0 G 305,4101 164.4+/-196.0 8,289,1906 114 76 89 2295 3.3 0.9 10 dbSNP_107 89 146,8454 71.6+/-134.2 3,140,4157 no coding-synonymous FAM171A1 NM_001010924.1 11,429,6063 AA,AG,GG 1.6977,6.9224,3.4676 765/891 15255292 451,12555 2203 4300 6503 SO:0001819 synonymous_variant AK022946 CCDS31154.1 10p13 2008-06-16 2008-06-16 2008-06-16 ENSG00000148468 ENSG00000148468 221061 23522 protein-coding gene gene with protein product chromosome 10 open reading frame 38 C10orf38 NA Standard XM_167709 NM_001010924 NA Approved FLJ12884 uc001iob.3 Q5VUB5 OTTHUMG00000017732 ENST00000378116.4:c.2295C>T chr10.hg19:g.15255292G>A NA D3DRT9|Q32M49|Q8N4I0 hg19 CCDS31154.1 0.02 14.907158 GTAxTTC COVERED NOVEL FAM171A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000046984.1 1 16.852905 KEEP 0 0 0 56 1938 GG 1 1 0 - 14 60 500 0 0 30.893593 352 60 12533 507 ENST00000378116.4 0.038251 1 FAM171A1 221061 __UNKNOWN__ __UNKNOWN__ 10 15296707 15296707 __UNKNOWN__ Intron SNP A A C rs3780930 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:15296707A>C ENST00000378116.4 - 4 584 NM_001010924.1 NP_001010924.1 Q5VUB5 F1711_HUMAN family with sequence similarity 171, member A1 NA NA extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 52 AAAAGAGAAAAGACTCCAATT 0.463 NA A||| 557 0.111222 0.2965 0.0634 5008 , , NA 19647 0.0982 NA 0.001 False NA ,,, NA NA NA 2504 0.0215 NA NA NA NA 0 A 1086,3320 384.7+/-325.4 123,840,1240 64 61 62 2.7 0 10 dbSNP_107 62 16,8584 10.5+/-38.8 0,16,4284 no intron FAM171A1 NM_001010924.1 123,856,5524 CC,CA,AA 0.186,24.6482,8.473 15296707 1102,11904 2203 4300 6503 SO:0001627 intron_variant AK022946 CCDS31154.1 10p13 2008-06-16 2008-06-16 2008-06-16 ENSG00000148468 ENSG00000148468 221061 23522 protein-coding gene gene with protein product chromosome 10 open reading frame 38 C10orf38 NA Standard XM_167709 NM_001010924 NA Approved FLJ12884 uc001iob.3 Q5VUB5 OTTHUMG00000017732 ENST00000378116.4:c.577+12T>G chr10.hg19:g.15296707A>C NA D3DRT9|Q32M49|Q8N4I0 hg19 CCDS31154.1 0.02 6.024426 AAAxGAC COVERED NOVEL FAM171A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000046984.1 3 13.542216 KEEP 0 0 0 45 1460 AA 1 1 0 - 6 60 221 0 0 13.443589 181 60 6530 283 ENST00000378116.4 0.032086 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 15446438 15446438 __UNKNOWN__ IGR SNP A A G rs7911830 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:15446438A>G NA NA FAM171A1 (33380 upstream) : ITGA8 (109509 downstream) NA NA NA acagagctacagtaaccaaaa 0.373 NA A||| 1991 0.397564 0.7307 0.2277 5008 , , NA 18435 0.2738 NA 0.3797 False NA ,,, NA NA NA 2504 0.2137 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.15446438A>G NA hg19 0.02 -0.087731 TACxGTA UNCOVERED NOVEL 0 1 3.009302 KEEP 0 0 0 10 321 AA 0.992708 0.098994 0 3 60 99 0 0 8.67835 7 60 263 27 0.3 0.099721 ITGA8 8516 __UNKNOWN__ __UNKNOWN__ 10 15719747 15719747 __UNKNOWN__ Intron SNP T T C rs3765584 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:15719747T>C ENST00000378076.3 - 6 984 NM_003638.1 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 NA NA brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446) apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069) metal ion binding (GO:0046872) NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 TTGTTACACATAAAAAGCAAT 0.279 NA T||| 583 0.116414 0.0749 0.0749 5008 , , NA 17647 0.1875 NA 0.1193 False NA ,,, NA NA NA 2504 0.1258 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L36531 CCDS31155.1 10p13 2010-03-23 ENSG00000077943 ENSG00000077943 8516 Integrins 6144 protein-coding gene gene with protein product 604063 NA 7768999 Standard NM_003638 XM_005252633 NA Approved uc001ioc.1 P53708 OTTHUMG00000017733 ENST00000378076.3:c.631-111A>G chr10.hg19:g.15719747T>C NA B0YJ31|Q5VX94 hg19 CCDS31155.1 0.02 4.816716 ACAxAAA COVERED NOVEL ITGA8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000046987.1 1 2.707528 KEEP 0 0 0 9 276 TT 0.99254 0.99254 0 - 6 60 237 0 0 15.964961 126 60 4467 141 ENST00000378076.3 0.045455 1 ITGA8 8516 __UNKNOWN__ __UNKNOWN__ 10 15762114 15762114 __UNKNOWN__ 5'UTR SNP A A G rs2236579 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:15762114A>G ENST00000378076.3 - 0 10 NM_003638.1 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 NA NA brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446) apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069) metal ion binding (GO:0046872) NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 TTTCTATTGCAGTCCCATCTC 0.597 NA A||| 719 0.14357 0.0749 0.1671 5008 , , NA 11872 0.1379 NA 0.1759 False NA ,,, NA NA NA 2504 0.1922 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant L36531 CCDS31155.1 10p13 2010-03-23 ENSG00000077943 ENSG00000077943 8516 Integrins 6144 protein-coding gene gene with protein product 604063 NA 7768999 Standard NM_003638 XM_005252633 NA Approved uc001ioc.1 P53708 OTTHUMG00000017733 ENST00000378076.3:c.-344T>C chr10.hg19:g.15762114A>G NA B0YJ31|Q5VX94 hg19 CCDS31155.1 0.02 8.674731 TGCxGTC COVERED NOVEL ITGA8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000046987.1 0 19.860638 KEEP 0 0 0 66 2095 AA 1 1 0 - 9 60 321 0 0 20.194779 205 60 7723 373 ENST00000378076.3 0.042056 1 PTER 9317 __UNKNOWN__ __UNKNOWN__ 10 16553355 16553355 __UNKNOWN__ 3'UTR SNP A A G rs1052708 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:16553355A>G ENST00000378000.1 + 0 1396 PTER_ENST00000298942.3_3'UTR|PTER_ENST00000423462.2_3'UTR NM_001001484.2|NM_001261838.1|NM_030664.4 NP_001001484.1|NP_001248767.1|NP_109589.2 Q96BW5 PTER_HUMAN phosphotriesterase related NA NA catabolic process (GO:0009056)|epithelial cell differentiation (GO:0030855) extracellular vesicular exosome (GO:0070062) hydrolase activity, acting on ester bonds (GO:0016788)|zinc ion binding (GO:0008270) endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2) 15 CCTAGGACTAATGACAGATCA 0.423 NA A||| 664 0.132588 0.1142 0.0605 5008 , , NA 18315 0.255 NA 0.0726 False NA ,,, NA NA NA 2504 0.1442 NA NA NA Ovarian(2;46 150 15648 38137 47908) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC015092 CCDS7111.1, CCDS58070.1, CCDS73070.1 10p12 2003-11-05 ENSG00000165983 ENSG00000165983 9317 9590 protein-coding gene gene with protein product 604446 NA 9925913 Standard NM_030664 NM_001001484 NA Approved uc001ioi.2 Q96BW5 OTTHUMG00000017737 ENST00000378000.1:c.*100A>G chr10.hg19:g.16553355A>G NA B0YJ77|B3KTF5|D3DRU0|Q9BY46 hg19 CCDS7111.1 0.02 4.187877 CTAxTGA COVERED NOVEL PTER-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000047001.2 0 4.212725 KEEP 0 0 0 14 451 AA 0.995343 0.995342 0 + 8 60 299 0 0 20.837361 116 60 4241 161 ENST00000378000.1 0.064516 0.999999 C1QL3 389941 __UNKNOWN__ __UNKNOWN__ 10 16556710 16556710 __UNKNOWN__ Intron SNP T T C rs7909832 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:16556710T>C ENST00000298943.3 - 2 1528 NM_001010908.1 NP_001010908.1 Q5VWW1 C1QL3_HUMAN complement component 1, q subcomponent-like 3 NA NA regulation of synapse organization (GO:0050807) collagen trimer (GO:0005581)|extracellular region (GO:0005576) breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 13 CACGCACCTATGTGAAACAGA 0.418 NA T||| 2950 0.589058 0.6899 0.5951 5008 , , NA 22248 0.5188 NA 0.5487 False NA ,,, NA NA NA 2504 0.5624 NA NA NA NA 0 T 2939,1467 677.9+/-403.5 986,967,250 65 53 57 -2.9 0.6 10 dbSNP_116 57 4816,3782 612.8+/-396.0 1346,2124,829 no intron C1QL3 NM_001010908.1 2332,3091,1079 CC,CT,TT 43.987,33.2955,40.3645 16556710 7755,5249 2203 4299 6502 SO:0001627 intron_variant CCDS31156.1 10p13 2012-03-26 ENSG00000165985 ENSG00000165985 389941 19359 protein-coding gene gene with protein product 615227 NA 21378161 Standard XM_372305 NM_001010908 NA Approved K100, C1ql, C1QTNF13, CTRP13 uc001ioj.1 Q5VWW1 OTTHUMG00000017738 ENST00000298943.3:c.589-4A>G chr10.hg19:g.16556710T>C NA A0PJY4|A0PJY5 hg19 CCDS31156.1 0.02 11.807757 CTAxGTG COVERED NOVEL C1QL3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000047003.1 0 5.550634 KEEP 0 1 30 29 920 TT 0.999997 0.999997 0 - 17 60 560 0 0 35.239906 305 60 11183 389 ENST00000298943.3 0.052795 1 CUBN 8029 __UNKNOWN__ __UNKNOWN__ 10 17032281 17032281 __UNKNOWN__ Intron SNP C C T rs2291521 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:17032281C>T ENST00000377833.4 - 29 4416 NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) NA NA cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767) apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215) breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GAGTGATTTCCTGTTCTACCC 0.418 NA C||| 822 0.164137 0.0764 0.1513 5008 , , NA 20765 0.1548 NA 0.2376 False NA ,,, NA NA NA 2504 0.226 NA NA NA NA 0 C 210,1542 16,178,682 63 63 63 -0.6 0 10 dbSNP_100 63 1012,2970 146,720,1125 no intron CUBN NM_001081.3 162,898,1807 TT,TC,CC 25.4144,11.9863,21.3115 17032281 1222,4512 876 1991 2867 SO:0001627 intron_variant AF034611 CCDS7113.1 10p12 2014-09-17 ENSG00000107611 ENSG00000107611 8029 2548 protein-coding gene gene with protein product 602997 MGA1 NA 9572993, 9478979 Standard NM_001081 NM_001081 NA Approved IFCR, gp280 uc001ioo.3 O60494 OTTHUMG00000017741 ENST00000377833.4:c.4350+51G>A chr10.hg19:g.17032281C>T NA B0YIZ4|Q5VTA6|Q96RU9 hg19 CCDS7113.1 0.02 10.748107 TTCxTGT COVERED NOVEL CUBN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000047009.1 2 48.757708 KEEP 0 0 0 162 5754 CC 1 1 0 - 9 60 338 0 0 20.763921 275 60 10016 561 ENST00000377833.4 0.03169 1 CUBN 8029 __UNKNOWN__ __UNKNOWN__ 10 17113563 17113563 __UNKNOWN__ Silent SNP C C T rs1801225 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:17113563C>T ENST00000377833.4 - 19 2552 c.2487G>A c.(2485-2487)tcG>tcA p.S829S NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 829 CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}. NA cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767) apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215) breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GAAAAAAAGGCGAGCGAATGA 0.408 NA c||| 1783 0.35603 0.0552 0.4827 5008 , , NA 13947 0.5407 NA 0.3966 False NA ,,, NA NA NA 2504 0.4407 NA NA NA NA 0 T 477,3929 223.9+/-240.3 24,429,1750 70 72 72 2487 -10.9 0 10 dbSNP_89 72 3889,4711 543.6+/-384.4 871,2147,1282 no coding-synonymous CUBN NM_001081.3 895,2576,3032 TT,TC,CC 45.2209,10.8261,33.5691 829/3624 17113563 4366,8640 2203 4300 6503 SO:0001819 synonymous_variant AF034611 CCDS7113.1 10p12 2014-09-17 ENSG00000107611 ENSG00000107611 8029 2548 protein-coding gene gene with protein product 602997 MGA1 NA 9572993, 9478979 Standard NM_001081 NM_001081 NA Approved IFCR, gp280 uc001ioo.3 O60494 OTTHUMG00000017741 ENST00000377833.4:c.2487G>A chr10.hg19:g.17113563C>T NA B0YIZ4|Q5VTA6|Q96RU9 hg19 CCDS7113.1 0.02 13.427484 AGGxGAG COVERED NOVEL CUBN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000047009.1 2 29.027555 KEEP 0 1 30 107 3740 CC 1 1 0 - 22 60 775 0 0 52.584268 320 60 11374 592 ENST00000377833.4 0.064327 1 CACNB2 783 __UNKNOWN__ __UNKNOWN__ 10 18550887 18550887 __UNKNOWN__ Intron SNP T T C rs12261375 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:18550887T>C ENST00000324631.7 + 2 273 CACNB2_ENST00000377319.3_Intron|CACNB2_ENST00000352115.6_Intron|CACNB2_ENST00000282343.8_Intron|CACNB2_ENST00000396576.2_Intron|CACNB2_ENST00000377328.1_Intron|CACNB2_ENST00000377331.2_Intron NM_201593.2|NM_201596.2 NP_963887.2|NP_963890.2 Q08289 CACB2_HUMAN calcium channel, voltage-dependent, beta 2 subunit NA NA axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601) integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891) calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2) 31 Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661) TGGATGCTAATTGCAATATGC 0.433 NA T||| 640 0.127796 0.1982 0.1326 5008 , , NA 19208 0.0933 NA 0.1481 False NA ,,, NA NA NA 2504 0.044 NA NA NA NA 0 T ,,,,,, 281,1471 23,235,618 152 142 145 ,,,,,, 4.3 1 10 dbSNP_120 145 506,3476 29,448,1514 no intron,intron,intron,intron,intron,intron,intron CACNB2 NM_000724.3,NM_001167945.1,NM_201571.3,NM_201572.3,NM_201593.2,NM_201596.2,NM_201597.2 ,,,,,, 52,683,2132 CC,CT,TT 12.7072,16.0388,13.7251 ,,,,,, ,,,,,, 18550887 787,4947 876 1991 2867 SO:0001627 intron_variant U95019 CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1 10p12 2014-09-17 ENSG00000165995 ENSG00000165995 783 Calcium channel subunits 1402 protein-coding gene gene with protein product 600003 MYSB, CACNLB2 NA 9254841, 8494331 Standard NM_000724 NM_201596 NA Approved uc001ipr.2 Q08289 OTTHUMG00000017764 ENST00000324631.7:c.213+110983T>C chr10.hg19:g.18550887T>C NA A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341 hg19 CCDS7125.1 0.02 6.889 TAAxTGC COVERED NOVEL CACNB2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000047072.2 1 9.327792 KEEP 0 0 0 31 967 TT 0.999997 0.999997 0 + 7 60 271 0 0 17.805774 161 60 5914 238 ENST00000324631.7 0.041667 1 NEBL 10529 __UNKNOWN__ __UNKNOWN__ 10 21098675 21098675 __UNKNOWN__ Intron SNP C C T rs71578969 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:21098675C>T ENST00000417816.2 - 5 883 NEBL_ENST00000377122.4_Intron|NEBL_ENST00000377159.4_Intron NM_001173484.1|NM_213569.2 NP_001166955.1|NP_998734.1 O76041 NEBL_HUMAN nebulette NA NA cardiac muscle thin filament assembly (GO:0071691) extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018) actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523) NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 CTACAGTTCACAGTGGTTCAC 0.338 NA T||| 98 0.0195687 0.0136 0.0 5008 , , NA 15065 0.0764 NA 0.0 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Y16241 CCDS7133.1, CCDS7134.1 10p12 2014-09-17 ENSG00000078114 ENSG00000078114 10529 16932 protein-coding gene gene with protein product 605491 NA 9733644, 10470015 Standard NM_006393 NM_213569 NA Approved uc001iqi.3 O76041 OTTHUMG00000017788 ENST00000417816.2:c.529+3022G>A chr10.hg19:g.21098675C>T NA B0YJ45|Q2TBD0|Q70I54|Q9UIC4 hg19 CCDS7133.1 0.02 4.303067 TCAxAGT COVERED NOVEL NEBL-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000047112.1 1 6.019686 KEEP 0 0 0 20 714 CC 0.999863 0.999863 0 - 9 60 338 0 0 23.448496 136 60 5051 183 ENST00000417816.2 0.062069 1 NEBL 10529 __UNKNOWN__ __UNKNOWN__ 10 21102824 21102824 __UNKNOWN__ Intron SNP C C G rs71578962 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:21102824C>G ENST00000417816.2 - 5 711 NEBL_ENST00000377122.4_Intron|NEBL_ENST00000377159.4_Intron NM_001173484.1|NM_213569.2 NP_001166955.1|NP_998734.1 O76041 NEBL_HUMAN nebulette NA NA cardiac muscle thin filament assembly (GO:0071691) extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018) actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523) NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 ACTGGATCCGCCCATTCCTTA 0.398 NA G||| 91 0.0181709 0.0 0.0 5008 , , NA 18293 0.0873 NA 0.0 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 G ,, 4,4400 821.6+/-416.4 0,4,2198 127 105 113 ,, 5 0 10 dbSNP_130 113 0,8598 0,0,4299 no intron,intron,intron NEBL NM_001173484.1,NM_006393.2,NM_213569.2 ,, 0,4,6497 GG,GC,CC 0.0,0.0908,0.0308 ,, ,, 21102824 4,12998 2202 4299 6501 SO:0001627 intron_variant Y16241 CCDS7133.1, CCDS7134.1 10p12 2014-09-17 ENSG00000078114 ENSG00000078114 10529 16932 protein-coding gene gene with protein product 605491 NA 9733644, 10470015 Standard NM_006393 NM_213569 NA Approved uc001iqi.3 O76041 OTTHUMG00000017788 ENST00000417816.2:c.358-955G>C chr10.hg19:g.21102824C>G NA B0YJ45|Q2TBD0|Q70I54|Q9UIC4 hg19 CCDS7133.1 0.02 14.685775 CCGxCCA COVERED NOVEL NEBL-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000047112.1 1 9.029917 KEEP 0 0 0 30 1099 CC 0.999997 0.999997 0 - 12 60 438 0 0 26.73296 345 60 12801 478 ENST00000417816.2 0.033613 1 CASC10 399726 __UNKNOWN__ __UNKNOWN__ 10 21783752 21783752 __UNKNOWN__ 3'UTR SNP A A G rs35106872 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:21783752A>G ENST00000377113.5 - 0 1635 NM_001010911.2 NP_001010911.1 Q5T4H9 CSC10_HUMAN cancer susceptibility candidate 10 NA NA NA CTCGGCCCCAAGCCTGGCAGG 0.761 NA G||| 1456 0.290735 0.416 0.2392 5008 , , NA 10293 0.0823 NA 0.3837 False NA ,,, NA NA NA 2504 0.2771 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC040880 CCDS31163.1 10p12.31 2013-07-17 2013-07-17 2013-07-17 ENSG00000204682 ENSG00000204682 399726 31448 protein-coding gene gene with protein product chromosome 10 open reading frame 114 C10orf114 NA 21804547 Standard NM_001010911 NM_001010911 NA Approved bA418C1.3 uc001iqn.4 Q5T4H9 OTTHUMG00000017795 ENST00000377113.5:c.*777T>C chr10.hg19:g.21783752A>G NA A1L4M3 hg19 CCDS31163.1 0.02 3.939203 CCAxGCC COVERED NOVEL CASC10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000047130.2 1 21.055877 KEEP 0 0 0 70 2092 AA 1 1 0 - 10 60 331 0 0 22.208059 131 60 4645 256 ENST00000377113.5 0.070922 1 MLLT10 8028 __UNKNOWN__ __UNKNOWN__ 10 21827796 21827796 __UNKNOWN__ Silent SNP G G A rs1802669 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:21827796G>A ENST00000307729.7 + 3 373 c.195G>A c.(193-195)ccG>ccA p.P65P MLLT10_ENST00000495130.1_3'UTR|MLLT10_ENST00000377059.3_Silent_p.P65P|MLLT10_ENST00000377100.3_Silent_p.P65P|MLLT10_ENST00000377091.2_Silent_p.P65P|MLLT10_ENST00000446906.2_Silent_p.P65P|MLLT10_ENST00000377072.3_Silent_p.P65P P55197 AF10_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 65 NA positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270) NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 CCACTGGACCGTGGTTTTGCA 0.368 NA T MLL, PICALM, CDK6 AL A||| 1389 0.277356 0.4327 0.2277 5008 , , NA 19521 0.0546 NA 0.3579 False NA ,,, NA NA NA 2504 0.2495 NA NA NA Dom yes 10 10p12 8028 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10) L 0 A ,,,, 1741,2665 648.1+/-398.7 366,1009,828 108 104 105 195,195,195,195,195 0.2 1 10 dbSNP_89 105 3025,5575 663.6+/-402.1 527,1971,1802 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous MLLT10 NM_001195626.1,NM_001195627.1,NM_001195628.1,NM_001195630.1,NM_004641.3 ,,,, 893,2980,2630 AA,AG,GG 35.1744,39.5143,36.6446 ,,,, 65/1069,65/127,65/180,65/180,65/1028 21827796 4766,8240 2203 4300 6503 SO:0001819 synonymous_variant U13948 CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1 10p12 2013-01-28 2001-11-28 ENSG00000078403 ENSG00000078403 8028 Zinc fingers, PHD-type 16063 protein-coding gene gene with protein product 602409 myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10 NA 7888665 Standard NM_004641 NA Approved AF10 uc021pny.1 P55197 OTTHUMG00000017799 ENST00000307729.7:c.195G>A chr10.hg19:g.21827796G>A NA B1ANA8|Q5JT37|Q5VX90|Q66K63 hg19 CCDS55708.1 0.02 15.917703 ACCxTGG COVERED 604 0.2765567765567766 227 0.4613821138211382 92 0.2541436464088398 16 0.027972027972027972 269 0.3548812664907652 A 9.769 1.172082 0.21704 0.395143 0.351744 ENSG00000078403 ENST00000430455 . . . 5.64 0.171 0.15026 . . . . . T 0.00012 0.0000 . . . 0.09310 P 1.0 . . . . . . T 0.46091 -0.9216 3 . . . . 0.7844 0.01046 0.2486:0.194:0.3192:0.2382 rs1802669;rs57900300 . . . M 31 . . V + 1 0 MLLT10 21867802 0.224000 0.23674 0.997000 0.53966 0.986000 0.74619 -0.310000 0.08135 -0.145000 0.11294 -1.087000 0.02190 GTG NOVEL MLLT10-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000047136.1 0 31.000305 KEEP 0 0 0 103 3615 GG 1 1 0 + 11 60 416 0 0 25.600204 341 60 12112 605 ENST00000307729.7 0.03125 1 KIAA1217 56243 __UNKNOWN__ __UNKNOWN__ 10 24832885 24832885 __UNKNOWN__ Intron SNP C C T rs3748218 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:24832885C>T ENST00000307544.6 + 14 2993 KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000376454.3_Silent_p.T1562T|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000376451.2_Silent_p.T1245T NM_001282769.1 NP_001269698.1 Q5T5P2 SKT_HUMAN KIAA1217 NA NA embryonic skeletal system development (GO:0048706) cytoplasm (GO:0005737) breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 AGGACGCGACCGATGACCAGT 0.483 NA C||| 1397 0.278954 0.3343 0.2233 5008 , , NA 19554 0.3988 NA 0.1521 False NA ,,, NA NA NA 2504 0.2505 NA NA NA NA 0 C ,, 1394,3012 455.5+/-351.0 230,934,1039 90 97 95 ,,4686 -10.9 0 10 dbSNP_107 95 1245,7355 246.5+/-274.9 85,1075,3140 no intron,intron,coding-synonymous KIAA1217 NM_001098500.1,NM_001098501.1,NM_019590.3 ,, 315,2009,4179 TT,TC,CC 14.4767,31.6387,20.2906 ,, ,,1562/1944 24832885 2639,10367 2203 4300 6503 SO:0001627 intron_variant BX640796 CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1 10p12.31 2009-09-16 ENSG00000120549 ENSG00000120549 56243 25428 protein-coding gene gene with protein product sickle tail NA 10574462 Standard NM_019590 XM_005252500 NA Approved DKFZP761L0424, SKT uc001iru.4 Q5T5P2 OTTHUMG00000017824 ENST00000307544.6:c.2662-1025C>T chr10.hg19:g.24832885C>T NA A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3 hg19 0.02 6.68386 GACxGAT COVERED NOVEL KIAA1217-001 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000047220.2 1 15.046316 KEEP 0 0 0 50 1649 CC 1 1 0 + 9 60 328 0 0 21.583526 171 60 5989 255 ENST00000307544.6 0.05 1 ENKUR 219670 __UNKNOWN__ __UNKNOWN__ 10 25279419 25279419 __UNKNOWN__ Silent SNP G G A rs199875445 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:25279419G>A ENST00000331161.4 - 4 786 c.567C>T c.(565-567)tcC>tcT p.S189S ENKUR_ENST00000376363.1_Silent_p.S189S NM_145010.3 NP_659447.1 Q8TC29 ENKUR_HUMAN enkurin, TRPC channel interacting protein 189 Enkurin. {ECO:0000255|PROSITE- ProRule:PRU01000}. NA motile cilium (GO:0031514) endometrium(2)|large_intestine(4)|lung(3)|skin(1) 10 TTTCTTCATCGGAGAGCCTTT 0.393 NA G||| 2 0.000399361 0.0 0.0 5008 , , NA 17355 0.002 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 G 0,4406 0,0,2203 172 147 155 567 -6.2 0 10 155 1,8599 1.2+/-3.3 0,1,4299 no coding-synonymous ENKUR NM_145010.2 0,1,6502 AA,AG,GG 0.0116,0.0,0.0077 189/257 25279419 1,13005 2203 4300 6503 SO:0001819 synonymous_variant AK095021 CCDS7146.1, CCDS73075.1 10p12.31 2014-08-13 2009-04-28 2009-04-28 ENSG00000151023 ENSG00000151023 219670 28388 protein-coding gene gene with protein product 611025 chromosome 10 open reading frame 63 C10orf63 NA 17217053, 15385169 Standard NM_145010 NM_145010 NA Approved MGC26778, enkurin, CFAP106 uc001isg.2 Q8TC29 OTTHUMG00000017827 ENST00000331161.4:c.567C>T chr10.hg19:g.25279419G>A NA A8K8Y0|D3DRV2 hg19 CCDS7146.1 0.02 23.130131 ATCxGAG COVERED NOVEL ENKUR-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000047239.2 2 25.881773 KEEP 0 0 0 86 2915 GG 1 1 0 - 17 60 653 0 0 41.098896 490 60 17150 727 ENST00000331161.4 0.033531 1 GPR158 57512 __UNKNOWN__ __UNKNOWN__ 10 25888180 25888180 __UNKNOWN__ Missense_Mutation SNP A A G rs10828833 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:25888180A>G ENST00000376351.3 + 11 3984 c.3625A>G c.(3625-3627)Atc>Gtc p.I1209V GPR158_ENST00000490549.1_3'UTR NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 1209 NA I -> V (in dbSNP:rs10828833). protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 GAAAGAAGAGATCTGGGATAG 0.438 NA G||| 3323 0.663538 0.9652 0.5144 5008 , , NA 18834 0.7579 NA 0.3956 False NA ,,, NA NA NA 2504 0.5399 NA NA NA NA 0 G VAL/ILE 3819,587 1656,507,40 43 51 48 3625 3.1 0.1 10 dbSNP_120 48 3647,4951 764,2119,1416 yes missense GPR158 NM_020752.2 29 2420,2626,1456 GG,GA,AA 42.4168,13.3227,42.5869 benign 1209/1216 25888180 7466,5538 2203 4299 6502 SO:0001583 missense AB032962 CCDS31166.1 10p12.31 2012-08-21 ENSG00000151025 ENSG00000151025 57512 GPCR / Class C : Orphans 23689 protein-coding gene gene with protein product 614573 NA Standard XM_166110 NM_020752 NA Approved KIAA1136 uc001isj.3 Q5T848 OTTHUMG00000017832 ENST00000376351.3:c.3625A>G chr10.hg19:g.25888180A>G ENSP00000365529:p.Ile1209Val NA Q6QR81|Q9ULT3 hg19 CCDS31166.1 0.02 20.743256 GAGxTCT COVERED 1407 0.6442307692307693 467 0.9491869918699187 199 0.5497237569060773 432 0.7552447552447552 309 0.4076517150395778 G 0.009 -1.856044 0.00558 0.866773 0.424168 ENSG00000151025 ENST00000376351 T 0.59083 0.29 5.92 3.1 0.35709 . 1.738420 0.03741 N 0.255005 T 0.00012 0.0000 N 0.03608 -0.345 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.40079 -0.9582 9 0.02654 T 1 . 10.728 0.46079 0.2544:0.0:0.7456:0.0 rs10828833;rs17639060;rs52832343;rs58605179;rs10828833 1209 Q5T848 GP158_HUMAN V 1209 ENSP00000365529:I1209V ENSP00000365529:I1209V I + 1 0 GPR158 25928186 0.991000 0.36638 0.145000 0.22337 0.573000 0.36030 2.214000 0.42853 0.136000 0.18733 -0.119000 0.15052 ATC NOVEL GPR158-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000047248.2 2 9.463042 KEEP 0 1 36 44 1378 AA 1 1 0 + 16 60 568 0 0 33.464482 502 60 17984 686 ENST00000376351.3 0.030888 1 GAD2 2572 __UNKNOWN__ __UNKNOWN__ 10 26505822 26505822 __UNKNOWN__ Intron SNP G G A rs2839671 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:26505822G>A ENST00000376261.3 + 1 579 GAD2_ENST00000259271.3_Intron NM_001134366.1 NP_001127838.1 Q05329 DCE2_HUMAN glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) NA NA glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268) anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672) glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170) central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 CAGGTAGGAAGGAGAACGGGG 0.587 NA G||| 1281 0.255791 0.2716 0.2493 5008 , , NA 13952 0.3462 NA 0.168 False NA ,,, NA NA NA 2504 0.2362 NA NA NA NA 0 G , 1113,3293 382.1+/-324.3 146,821,1236 44 54 50 , 0.9 0.3 10 dbSNP_100 50 1474,7126 270.1+/-288.8 118,1238,2944 no intron,intron GAD2 NM_000818.2,NM_001134366.1 , 264,2059,4180 AA,AG,GG 17.1395,25.261,19.8908 , , 26505822 2587,10419 2203 4300 6503 SO:0001627 intron_variant AJ251501 CCDS7149.1 10p13-p11.2 2003-11-11 2002-08-29 ENSG00000136750 ENSG00000136750 2572 4.1.1.15 4093 protein-coding gene gene with protein product 138275 glutamate decarboxylase 2 (pancreatic islets and brain, 65kD) NA 2039509 Standard NM_000818 NM_000818 NA Approved GAD65 uc001isp.2 Q05329 OTTHUMG00000017836 ENST00000376261.3:c.76+8G>A chr10.hg19:g.26505822G>A NA Q9UD87 hg19 CCDS7149.1 0.02 8.601944 GAAxGAG COVERED NOVEL GAD2-001 KNOWN alternative_3_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000047255.1 1 9.631116 KEEP 0 0 0 32 1127 GG 0.999997 0.999997 0 + 12 60 443 0 0 29.23085 233 60 8880 365 ENST00000376261.3 0.04898 1 GAD2 2572 __UNKNOWN__ __UNKNOWN__ 10 26591579 26591579 __UNKNOWN__ 3'UTR SNP G G A rs1335547 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:26591579G>A ENST00000376261.3 + 0 3950 GAD2_ENST00000259271.3_Intron NM_001134366.1 NP_001127838.1 Q05329 DCE2_HUMAN glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) NA NA glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268) anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672) glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170) central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 GGGTAGAAATGCCCTACAATA 0.428 NA G||| 1662 0.331869 0.5507 0.2421 5008 , , NA 18107 0.3353 NA 0.1759 False NA ,,, NA NA NA 2504 0.2566 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ251501 CCDS7149.1 10p13-p11.2 2003-11-11 2002-08-29 ENSG00000136750 ENSG00000136750 2572 4.1.1.15 4093 protein-coding gene gene with protein product 138275 glutamate decarboxylase 2 (pancreatic islets and brain, 65kD) NA 2039509 Standard NM_000818 NM_000818 NA Approved GAD65 uc001isp.2 Q05329 OTTHUMG00000017836 ENST00000376261.3:c.*1689G>A chr10.hg19:g.26591579G>A NA Q9UD87 hg19 CCDS7149.1 0.02 5.754982 AATxCCC COVERED NOVEL GAD2-001 KNOWN alternative_3_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000047255.1 2 6.621473 KEEP 0 0 0 22 777 GG 0.999879 0.999879 0 + 8 60 273 0 0 16.634172 187 60 7044 255 ENST00000376261.3 0.041026 1 GAD2 2572 __UNKNOWN__ __UNKNOWN__ 10 26591988 26591988 __UNKNOWN__ 3'UTR SNP G G T rs8190809 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:26591988G>T ENST00000376261.3 + 0 4359 GAD2_ENST00000259271.3_Intron NM_001134366.1 NP_001127838.1 Q05329 DCE2_HUMAN glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) NA NA glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268) anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672) glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170) central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 GCTGTCCTTCGTGGAGAAGAC 0.507 NA T||| 1496 0.298722 0.4312 0.232 5008 , , NA 16899 0.3353 NA 0.175 False NA ,,, NA NA NA 2504 0.2566 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ251501 CCDS7149.1 10p13-p11.2 2003-11-11 2002-08-29 ENSG00000136750 ENSG00000136750 2572 4.1.1.15 4093 protein-coding gene gene with protein product 138275 glutamate decarboxylase 2 (pancreatic islets and brain, 65kD) NA 2039509 Standard NM_000818 NM_000818 NA Approved GAD65 uc001isp.2 Q05329 OTTHUMG00000017836 ENST00000376261.3:c.*2098G>T chr10.hg19:g.26591988G>T NA Q9UD87 hg19 CCDS7149.1 0.02 9.53222 TTCxTGG COVERED NOVEL GAD2-001 KNOWN alternative_3_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000047255.1 0 8.126081 KEEP 0 0 0 27 947 GG 0.999988 0.999988 0 + 10 60 383 0 0 25.212978 220 60 7766 314 ENST00000376261.3 0.043478 1 GAD2 2572 __UNKNOWN__ __UNKNOWN__ 10 26593101 26593101 __UNKNOWN__ 3'UTR SNP G G A rs572614978 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:26593101G>A ENST00000376261.3 + 0 5472 GAD2_ENST00000259271.3_3'UTR NM_001134366.1 NP_001127838.1 Q05329 DCE2_HUMAN glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) NA NA glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268) anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672) glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170) central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 TGCCAAAATCGTAGGTGTTGG 0.448 NA G||| 2 0.000399361 0.0 0.0 5008 , , NA 20585 0.002 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ251501 CCDS7149.1 10p13-p11.2 2003-11-11 2002-08-29 ENSG00000136750 ENSG00000136750 2572 4.1.1.15 4093 protein-coding gene gene with protein product 138275 glutamate decarboxylase 2 (pancreatic islets and brain, 65kD) NA 2039509 Standard NM_000818 NM_000818 NA Approved GAD65 uc001isp.2 Q05329 OTTHUMG00000017836 ENST00000376261.3:c.*3211G>A chr10.hg19:g.26593101G>A NA Q9UD87 hg19 CCDS7149.1 0.02 6.777051 ATCxTAG COVERED NOVEL GAD2-001 KNOWN alternative_3_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000047255.1 0 2.407839 KEEP 0 0 0 8 278 GG 0.99257 0.99257 0 + 9 60 339 0 0 23.203394 149 60 5309 179 ENST00000376261.3 0.056962 1 ABI1 10006 __UNKNOWN__ __UNKNOWN__ 10 27037768 27037768 __UNKNOWN__ Intron SNP A A T rs3802611 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:27037768A>T ENST00000376142.2 - 12 1423 ABI1_ENST00000376170.4_Intron|ABI1_ENST00000355394.4_Intron|ABI1_ENST00000376139.2_Intron|ABI1_ENST00000376138.3_Intron|ABI1_ENST00000376160.1_Intron|ABI1_ENST00000490841.2_Intron|ABI1_ENST00000359188.4_Intron|ABI1_ENST00000346832.5_Intron|ABI1_ENST00000376140.3_Intron|ABI1_ENST00000536334.1_Intron|ABI1_ENST00000376137.4_Intron|ABI1_ENST00000376166.1_Intron|ABI1_ENST00000376134.3_Intron NM_005470.3 NP_005461.2 Q8IZP0 ABI1_HUMAN abl-interactor 1 NA NA actin polymerization or depolymerization (GO:0008154)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium morphogenesis (GO:0072673)|megakaryocyte development (GO:0035855)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|SCAR complex (GO:0031209) cytoskeletal protein binding (GO:0008092)|protein complex binding (GO:0032403)|protein tyrosine kinase activator activity (GO:0030296) central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 ATAGCACAGCAAAACTATTTT 0.289 NA A||| 383 0.0764776 0.0 0.0086 5008 , , NA 17153 0.1389 NA 0.0109 False NA ,,, NA NA NA 2504 0.2311 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U87166 CCDS7150.1, CCDS31169.1, CCDS31170.1, CCDS31171.1, CCDS53497.1, CCDS53498.1, CCDS53499.1, CCDS53500.1, CCDS53501.1, CCDS73077.1, CCDS73078.1 10p12.1 2009-05-29 2004-03-17 2004-03-19 ENSG00000136754 ENSG00000136754 10006 11320 protein-coding gene gene with protein product 603050 spectrin SH3 domain binding protein 1 SSH3BP1 NA 9593709, 9010225 Standard NM_005470 NM_005470 NA Approved E3B1, ABI-1 uc001isx.3 Q8IZP0 OTTHUMG00000017848 ENST00000376142.2:c.1352-94T>A chr10.hg19:g.27037768A>T NA A9Z1Y6|B3KX62|B4DQ58|H7BXI6|O15147|O76049|O95060|Q5T2R3|Q5T2R4|Q5T2R6|Q5T2R7|Q5T2R9|Q5W070|Q5W072|Q8TB63|Q96S81|Q9NXZ9|Q9NYB8 hg19 CCDS7150.1 0.02 2.091196 AGCxAAA COVERED NOVEL ABI1-005 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000047287.1 0 3.609596 KEEP 0 0 0 12 348 AA 0.993634 0.989348 0 - 7 60 249 0 0 18.452495 61 60 2181 83 ENST00000376142.2 0.102941 0.995687 ABI1 10006 __UNKNOWN__ __UNKNOWN__ 10 27149908 27149908 __UNKNOWN__ 5'UTR SNP G G A rs2296544 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:27149908G>A ENST00000376138.3 - 0 51 ABI1_ENST00000355394.4_5'UTR|ABI1_ENST00000490841.2_5'UTR|ABI1_ENST00000346832.5_5'UTR|ABI1_ENST00000536334.1_5'UTR|ABI1_ENST00000376137.4_5'UTR|ABI1_ENST00000376166.1_5'UTR|ABI1_ENST00000376134.3_5'UTR NM_001012751.2|NM_001178120.1|NM_001178123.1 NP_001012769.1|NP_001171591.1|NP_001171594.1 Q8IZP0 ABI1_HUMAN abl-interactor 1 NA NA actin polymerization or depolymerization (GO:0008154)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium morphogenesis (GO:0072673)|megakaryocyte development (GO:0035855)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|SCAR complex (GO:0031209) cytoskeletal protein binding (GO:0008092)|protein complex binding (GO:0032403)|protein tyrosine kinase activator activity (GO:0030296) central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 CCTCCCGCCTGGTATTGTGGG 0.647 NA G||| 388 0.077476 0.0 0.0086 5008 , , NA 11623 0.1438 NA 0.0109 False NA ,,, NA NA NA 2504 0.2311 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant U87166 CCDS7150.1, CCDS31169.1, CCDS31170.1, CCDS31171.1, CCDS53497.1, CCDS53498.1, CCDS53499.1, CCDS53500.1, CCDS53501.1, CCDS73077.1, CCDS73078.1 10p12.1 2009-05-29 2004-03-17 2004-03-19 ENSG00000136754 ENSG00000136754 10006 11320 protein-coding gene gene with protein product 603050 spectrin SH3 domain binding protein 1 SSH3BP1 NA 9593709, 9010225 Standard NM_005470 NM_005470 NA Approved E3B1, ABI-1 uc001isx.3 Q8IZP0 OTTHUMG00000017848 ENST00000376138.3:c.-116C>T chr10.hg19:g.27149908G>A NA A9Z1Y6|B3KX62|B4DQ58|H7BXI6|O15147|O76049|O95060|Q5T2R3|Q5T2R4|Q5T2R6|Q5T2R7|Q5T2R9|Q5W070|Q5W072|Q8TB63|Q96S81|Q9NXZ9|Q9NYB8 hg19 CCDS31170.1 0.02 10.847716 CCTxGTA COVERED NOVEL ABI1-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000047283.1 1 39.426564 KEEP 0 0 0 131 4542 GG 1 1 0 - 9 60 331 0 0 20.071897 275 60 10043 513 ENST00000376138.3 0.03169 1 ANKRD26 22852 __UNKNOWN__ __UNKNOWN__ 10 27317840 27317840 __UNKNOWN__ Missense_Mutation SNP C C T rs10829163 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:27317840C>T ENST00000376087.4 - 27 4078 c.3913G>A c.(3913-3915)Gtc>Atc p.V1305I ANKRD26_ENST00000436985.2_Missense_Mutation_p.V1321I|ANKRD26_ENST00000376070.3_Missense_Mutation_p.V862I NM_001256053.1|NM_014915.2 NP_001242982.1|NP_055730.2 Q9UPS8 ANR26_HUMAN ankyrin repeat domain 26 1304 NA glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259) actin filament (GO:0005884)|centrosome (GO:0005813) breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2) 70 TGCTTTTTGACTGTAACTTTT 0.279 NA T||| 1589 0.317292 0.2352 0.1758 5008 , , NA 14382 0.5516 NA 0.1928 False NA ,,, NA NA NA 2504 0.4151 NA NA NA NA 0 T ILE/VAL 839,2761 96,647,1057 121 110 114 3913 -4.4 0 10 dbSNP_120 114 1180,6940 77,1026,2957 yes missense ANKRD26 NM_014915.2 29 173,1673,4014 TT,TC,CC 14.532,23.3056,17.227 benign 1305/1711 27317840 2019,9701 1800 4060 5860 SO:0001583 missense AB028997 CCDS41499.1 10p12.1 2014-09-17 ENSG00000107890 ENSG00000107890 22852 Ankyrin repeat domain containing 29186 protein-coding gene gene with protein product 610855 thrombocytopenia 2 (autosomal dominant) THC2 NA 10470851, 21211618 Standard NM_014915 NA Approved KIAA1074 uc009xku.1 Q9UPS8 OTTHUMG00000017851 ENST00000376087.4:c.3913G>A chr10.hg19:g.27317840C>T ENSP00000365255:p.Val1305Ile NA A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69 hg19 CCDS41499.1 0.02 3.686844 TGAxTGT COVERED 660 0.3021978021978022 109 0.22154471544715448 63 0.17403314917127072 340 0.5944055944055944 148 0.19525065963060687 T 0.013 -1.644536 0.00792 0.233056 0.14532 ENSG00000107890 ENST00000376070;ENST00000376087;ENST00000436985 T;T;T 0.75050 -0.9;-0.9;-0.9 4.9 -4.39 0.03611 . 0.729179 0.11831 N 0.525220 T 0.00012 0.0000 N 0.08118 0 0.80722 P 0.0 B;B;B 0.02656 0.0;0.0;0.0 B;B;B 0.04013 0.001;0.001;0.0 T 0.24261 -1.0165 9 0.02654 T 1 . 8.0976 0.30837 0.0:0.4553:0.1065:0.4382 rs10829163;rs52823343;rs58305733;rs10829163 1305;1304;1321 Q9UPS8-3;Q9UPS8;A1L497 .;ANR26_HUMAN;. I 862;1305;1321 ENSP00000365238:V862I;ENSP00000365255:V1305I;ENSP00000405112:V1321I ENSP00000365238:V862I V - 1 0 ANKRD26 27357846 0.000000 0.05858 0.002000 0.10522 0.004000 0.04260 -1.827000 0.01704 -1.176000 0.02747 -0.308000 0.09152 GTC NOVEL ANKRD26-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000047296.1 3 9.465552 KEEP 0 1 30 42 1532 CC 1 1 0 - 6 60 214 0 0 13.381081 141 60 5356 231 ENST00000376087.4 0.040816 1 ANKRD26 22852 __UNKNOWN__ __UNKNOWN__ 10 27382586 27382586 __UNKNOWN__ Intron SNP G G C rs2297150 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:27382586G>C ENST00000376087.4 - 2 523 ANKRD26_ENST00000436985.2_Intron NM_001256053.1|NM_014915.2 NP_001242982.1|NP_055730.2 Q9UPS8 ANR26_HUMAN ankyrin repeat domain 26 NA NA glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259) actin filament (GO:0005884)|centrosome (GO:0005813) breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2) 70 AAATCCATCTGATGCTGAAAG 0.363 NA C||| 849 0.169529 0.0862 0.147 5008 , , NA 20286 0.2817 NA 0.1521 False NA ,,, NA NA NA 2504 0.2004 NA NA NA NA 0 C 392,3440 24,344,1548 72 67 69 1.2 0 10 dbSNP_100 69 991,7323 54,883,3220 no intron ANKRD26 NM_014915.2 78,1227,4768 CC,CG,GG 11.9197,10.2296,11.3865 27382586 1383,10763 1916 4157 6073 SO:0001627 intron_variant AB028997 CCDS41499.1 10p12.1 2014-09-17 ENSG00000107890 ENSG00000107890 22852 Ankyrin repeat domain containing 29186 protein-coding gene gene with protein product 610855 thrombocytopenia 2 (autosomal dominant) THC2 NA 10470851, 21211618 Standard NM_014915 NA Approved KIAA1074 uc009xku.1 Q9UPS8 OTTHUMG00000017851 ENST00000376087.4:c.357+27C>G chr10.hg19:g.27382586G>C NA A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69 hg19 CCDS41499.1 0.02 12.438463 TCTxATG COVERED NOVEL ANKRD26-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000047296.1 0 10.827296 KEEP 0 0 0 36 1228 GG 0.999999 0.999999 0 - 12 60 465 0 0 31.091792 249 60 9544 362 ENST00000376087.4 0.045977 1 YME1L1 10730 __UNKNOWN__ __UNKNOWN__ 10 27400661 27400661 __UNKNOWN__ 3'UTR SNP C C T rs3758438 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:27400661C>T ENST00000376016.3 - 0 2577 YME1L1_ENST00000326799.3_3'UTR NM_014263.3 NP_055078.1 Q96TA2 YMEL1_HUMAN YME1-like 1 ATPase NA NA cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005) integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222) breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 CTCAAAAGAGCTGTTTTCAAT 0.289 NA C||| 653 0.130391 0.0113 0.1167 5008 , , NA 19222 0.2798 NA 0.1103 False NA ,,, NA NA NA 2504 0.1677 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ132637 CCDS7151.1, CCDS7152.1, CCDS58072.1 10p14 2013-06-10 2013-06-10 ENSG00000136758 ENSG00000136758 10730 ATPases / AAA-type 12843 protein-coding gene gene with protein product 607472 YME1 (S.cerevisiae)-like 1, YME1-like 1 (S. cerevisiae) NA 22262461 Standard NM_139312 NM_139312 NA Approved uc001itj.3 Q96TA2 OTTHUMG00000017853 ENST00000376016.3:c.*245G>A chr10.hg19:g.27400661C>T NA B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9 hg19 CCDS7151.1 0.02 10.089225 GAGxTGT COVERED NOVEL YME1L1-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000047305.1 0 10.835886 KEEP 0 0 0 36 1322 CC 0.999999 0.999999 0 - 8 60 285 0 0 16.418735 283 60 10597 364 ENST00000376016.3 0.027491 1 YME1L1 10730 __UNKNOWN__ __UNKNOWN__ 10 27423744 27423744 __UNKNOWN__ Intron SNP T T C rs2275752 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:27423744T>C ENST00000376016.3 - 6 873 YME1L1_ENST00000463270.1_Intron|YME1L1_ENST00000375972.3_Intron|YME1L1_ENST00000326799.3_Intron NM_014263.3 NP_055078.1 Q96TA2 YMEL1_HUMAN YME1-like 1 ATPase NA NA cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005) integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222) breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 ACACGGATGGTGTCAATTCAA 0.353 NA T||| 1404 0.280351 0.3048 0.1758 5008 , , NA 19197 0.4018 NA 0.2127 False NA ,,, NA NA NA 2504 0.2658 NA NA NA NA 0 T , 1335,3069 446.1+/-347.9 190,955,1057 111 99 103 , -1.9 0 10 dbSNP_100 103 1514,7086 285.8+/-297.4 129,1256,2915 no intron,intron YME1L1 NM_014263.2,NM_139312.1 , 319,2211,3972 CC,CT,TT 17.6047,30.3134,21.9086 , , 27423744 2849,10155 2202 4300 6502 SO:0001627 intron_variant AJ132637 CCDS7151.1, CCDS7152.1, CCDS58072.1 10p14 2013-06-10 2013-06-10 ENSG00000136758 ENSG00000136758 10730 ATPases / AAA-type 12843 protein-coding gene gene with protein product 607472 YME1 (S.cerevisiae)-like 1, YME1-like 1 (S. cerevisiae) NA 22262461 Standard NM_139312 NM_139312 NA Approved uc001itj.3 Q96TA2 OTTHUMG00000017853 ENST00000376016.3:c.691+15A>G chr10.hg19:g.27423744T>C NA B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9 hg19 CCDS7151.1 0.02 4.082733 TGGxGTC COVERED NOVEL YME1L1-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000047305.1 0 4.548554 KEEP 0 1 37 28 850 TT 0.999997 0.999997 0 - 7 60 237 0 0 15.09608 128 60 4549 213 ENST00000376016.3 0.051852 1 YME1L1 10730 __UNKNOWN__ __UNKNOWN__ 10 27442121 27442121 __UNKNOWN__ Intron SNP A A G rs57671772 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:27442121A>G ENST00000376016.3 - 1 215 YME1L1_ENST00000375972.3_Intron|YME1L1_ENST00000326799.3_Intron|YME1L1_ENST00000477432.1_Intron NM_014263.3 NP_055078.1 Q96TA2 YMEL1_HUMAN YME1-like 1 ATPase NA NA cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005) integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222) breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 CTTCATATCAATATTAAGAGA 0.403 NA A||| 689 0.13758 0.0371 0.121 5008 , , NA 17593 0.2798 NA 0.1093 False NA ,,, NA NA NA 2504 0.1677 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ132637 CCDS7151.1, CCDS7152.1, CCDS58072.1 10p14 2013-06-10 2013-06-10 ENSG00000136758 ENSG00000136758 10730 ATPases / AAA-type 12843 protein-coding gene gene with protein product 607472 YME1 (S.cerevisiae)-like 1, YME1-like 1 (S. cerevisiae) NA 22262461 Standard NM_139312 NM_139312 NA Approved uc001itj.3 Q96TA2 OTTHUMG00000017853 ENST00000376016.3:c.33+985T>C chr10.hg19:g.27442121A>G NA B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9 hg19 CCDS7151.1 0.02 17.738833 TCAxTAT COVERED NOVEL YME1L1-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000047305.1 4 43.769798 KEEP 0 1 18 152 4970 AA 1 1 0 - 13 60 498 0 0 30.711611 416 60 15117 727 ENST00000376016.3 0.030303 1 YME1L1 10730 __UNKNOWN__ __UNKNOWN__ 10 27443083 27443083 __UNKNOWN__ Intron SNP A A T rs2274637 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:27443083A>T ENST00000376016.3 - 1 215 YME1L1_ENST00000375972.3_Intron|YME1L1_ENST00000326799.3_Intron|YME1L1_ENST00000477432.1_Intron NM_014263.3 NP_055078.1 Q96TA2 YMEL1_HUMAN YME1-like 1 ATPase NA NA cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005) integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222) breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 GGAGGAAAAAAAATGGGCTGA 0.552 NA A||| 643 0.128395 0.0053 0.1153 5008 , , NA 18335 0.2798 NA 0.1093 False NA ,,, NA NA NA 2504 0.1677 NA NA NA NA 0 A , 92,4298 0,92,2103 52 46 48 , -0.1 0.1 10 dbSNP_100 48 686,7892 26,634,3629 no intron,intron YME1L1 NM_014263.2,NM_139312.1 , 26,726,5732 TT,TA,AA 7.9972,2.0957,5.9994 , , 27443083 778,12190 2195 4289 6484 SO:0001627 intron_variant AJ132637 CCDS7151.1, CCDS7152.1, CCDS58072.1 10p14 2013-06-10 2013-06-10 ENSG00000136758 ENSG00000136758 10730 ATPases / AAA-type 12843 protein-coding gene gene with protein product 607472 YME1 (S.cerevisiae)-like 1, YME1-like 1 (S. cerevisiae) NA 22262461 Standard NM_139312 NM_139312 NA Approved uc001itj.3 Q96TA2 OTTHUMG00000017853 ENST00000376016.3:c.33+23T>A chr10.hg19:g.27443083A>T NA B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9 hg19 CCDS7151.1 0.02 6.372323 AAAxAAT COVERED NOVEL YME1L1-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000047305.1 2 49.643219 KEEP 0 0 0 165 5030 AA 1 1 0 - 9 60 331 0 0 22.133295 160 60 5766 439 ENST00000376016.3 0.053254 1 RP11-85G18.6 0 __UNKNOWN__ __UNKNOWN__ 10 27535600 27535600 __UNKNOWN__ lincRNA SNP T T C rs640284 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:27535600T>C ENST00000574842.1 + 0 255 NA NA NA CACAGGTCAATTGCACATGGG 0.517 NA T||| 1007 0.201078 0.0197 0.2104 5008 , , NA 22090 0.3274 NA 0.2435 False NA ,,, NA NA NA 2504 0.2658 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000574842.1: chr10.hg19:g.27535600T>C NA hg19 0.02 15.383552 CAAxTGC COVERED NOVEL RP11-85G18.6-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000436904.1 1 15.04531 KEEP 0 0 0 50 1574 TT 1 1 0 + 11 60 441 0 0 28.871791 289 60 10452 406 ENST00000574842.1 0.036667 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 27636342 27636342 __UNKNOWN__ IGR SNP G G A rs114065885 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:27636342G>A NA NA RP11-748L13.6 (2496 upstream) : PTCHD3 (50773 downstream) NA NA NA ttttcttttCGCATAGGCATT 0.378 NA g||| 195 0.0389377 0.0144 0.0418 5008 , , NA 17352 0.0982 NA 0.0159 False NA ,,, NA NA NA 2504 0.0327 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.27636342G>A NA hg19 0.02 4.358124 TTCxCAT COVERED NOVEL 0 1 4.648547 KEEP 0 1 30 26 876 GG 0.999988 0.999985 0 7 60 256 0 0 17.489299 108 60 3642 173 0.06087 0.999997 PTCHD3 374308 __UNKNOWN__ __UNKNOWN__ 10 27692205 27692205 __UNKNOWN__ Silent SNP G G A rs11015742 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:27692205G>A ENST00000438700.3 - 3 1410 c.1293C>T c.(1291-1293)ggC>ggT p.G431G NM_001034842.3 NP_001030014.2 Q3KNS1 PTHD3_HUMAN patched domain containing 3 431 SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}. NA spermatid development (GO:0007286) integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225) hedgehog receptor activity (GO:0008158) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 55 GCAACAGCAGGCCAAAGCCGC 0.458 NA G||| 607 0.121206 0.0219 0.1037 5008 , , NA 15677 0.371 NA 0.0437 False NA ,,, NA NA NA 2504 0.09 NA NA NA NA 0 G 109,4297 83.4+/-121.9 0,109,2094 133 125 128 1293 0.9 0.9 10 dbSNP_120 128 329,8271 115.0+/-174.9 6,317,3977 no coding-synonymous PTCHD3 NM_001034842.3 6,426,6071 AA,AG,GG 3.8256,2.4739,3.3677 431/768 27692205 438,12568 2203 4300 6503 SO:0001819 synonymous_variant AK126025 CCDS31173.1 10p12.1 2006-05-26 ENSG00000182077 ENSG00000182077 374308 24776 protein-coding gene gene with protein product 611791 NA Standard XM_370541 NM_001034842 NA Approved FLJ44037, PTR uc001itu.2 Q3KNS1 OTTHUMG00000017860 ENST00000438700.3:c.1293C>T chr10.hg19:g.27692205G>A NA I3L499|Q6ZU28 hg19 CCDS31173.1 0.02 6.73894 CAGxCCA COVERED NOVEL PTCHD3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000047325.3 0 10.233293 KEEP 0 0 0 34 1206 GG 0.999998 0.999998 0 - 6 60 222 0 0 14.109075 145 60 5364 240 ENST00000438700.3 0.039735 1 MPP7 143098 __UNKNOWN__ __UNKNOWN__ 10 28341446 28341446 __UNKNOWN__ 3'UTR SNP T T C rs57007077 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:28341446T>C ENST00000375732.1 - 0 3538 MPP7_ENST00000337532.5_3'UTR|MPP7_ENST00000540098.1_3'UTR Q5T2T1 MPP7_HUMAN membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) NA NA establishment of cell polarity (GO:0030010)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of signal transduction (GO:0009967)|protein localization to adherens junction (GO:0071896)|tight junction assembly (GO:0070830) adherens junction (GO:0005912)|cell junction (GO:0030054)|mitochondrion (GO:0005739)|MPP7-DLG1-LIN7 complex (GO:0097025)|tight junction (GO:0005923) protein complex scaffold (GO:0032947)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|signaling adaptor activity (GO:0035591) autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1) 22 TGAATAATGCTATCAAATGTG 0.353 NA T||| 14 0.00279553 0.0 0.0 5008 , , NA 15204 0.0139 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC038105 CCDS7158.1 10p12.1 2004-01-15 ENSG00000150054 ENSG00000150054 143098 26542 protein-coding gene gene with protein product 610973 NA 14719143 Standard NM_173496 NM_173496 NA Approved FLJ32798 uc001iua.1 Q5T2T1 OTTHUMG00000017868 ENST00000375732.1:c.*1548A>G chr10.hg19:g.28341446T>C NA B2RCC9|B4DWL9|B5MDZ3|D3DRW3|Q5T2T0|Q8IY28 hg19 CCDS7158.1 0.02 3.986173 TGCxATC COVERED NOVEL MPP7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000047345.1 2 7.215111 KEEP 0 0 0 24 718 TT 0.999909 0.999909 0 - 5 60 183 0 0 11.214262 142 60 5288 203 ENST00000375732.1 0.034014 1 WAC 51322 __UNKNOWN__ __UNKNOWN__ 10 28905079 28905079 __UNKNOWN__ Intron SNP A A G rs332176 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:28905079A>G ENST00000354911.4 + 12 1717 WAC_ENST00000375646.1_Intron|WAC_ENST00000347934.4_Intron|WAC_ENST00000375664.4_Intron NM_016628.4 NP_057712.2 Q9BTA9 WAC_HUMAN WW domain containing adaptor with coiled-coil NA NA cellular response to DNA damage stimulus (GO:0006974)|G1 DNA damage checkpoint (GO:0044783)|histone H2B conserved C-terminal lysine ubiquitination (GO:0071894)|histone monoubiquitination (GO:0010390)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634)|spliceosomal complex (GO:0005681) chromatin binding (GO:0003682)|RNA polymerase II core binding (GO:0000993) NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1) 32 TAAACATACTACACATTCAAT 0.328 NA A||| 748 0.149361 0.0643 0.1268 5008 , , NA 17844 0.1329 NA 0.2495 False NA ,,, NA NA NA 2504 0.1943 NA NA NA NA 0 A , 446,3960 213.5+/-233.1 21,404,1778 92 89 90 , 1.7 0 10 dbSNP_79 90 2158,6442 369.5+/-335.5 278,1602,2420 no intron,intron WAC NM_016628.4,NM_100486.3 , 299,2006,4198 GG,GA,AA 25.093,10.1226,20.0215 , , 28905079 2604,10402 2203 4300 6503 SO:0001627 intron_variant AK055852 CCDS7159.1, CCDS7160.1, CCDS7161.1 10p12.1 2007-05-17 2003-03-19 ENSG00000095787 ENSG00000095787 51322 17327 protein-coding gene gene with protein product 615049 WW domain-containing adaptor with coiled coil NA 11827461 Standard NM_100264 NR_024557 NA Approved Wwp4, FLJ31290, PRO1741, BM-016, MGC10753 uc001iuf.3 Q9BTA9 OTTHUMG00000017872 ENST00000354911.4:c.1557-23A>G chr10.hg19:g.28905079A>G NA A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3 hg19 CCDS7159.1 0.02 6.352465 ACTxCAC COVERED NOVEL WAC-017 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000047371.1 1 7.519603 KEEP 0 0 0 25 746 AA 0.999931 0.999931 0 + 6 60 225 0 0 14.239881 155 60 5515 195 ENST00000354911.4 0.037267 1 LYZL1 84569 __UNKNOWN__ __UNKNOWN__ 10 29581527 29581527 __UNKNOWN__ Silent SNP C C T rs11007514 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:29581527C>T ENST00000375500.3 + 3 414 c.357C>T c.(355-357)ggC>ggT p.G119G NM_032517.4 NP_115906.3 Q6UWQ5 LYZL1_HUMAN lysozyme-like 1 73 NA cell wall macromolecule catabolic process (GO:0016998) extracellular region (GO:0005576) lysozyme activity (GO:0003796) central_nervous_system(1)|cervix(2)|large_intestine(2)|lung(5)|skin(1) 11 Breast(68;0.203) TCGACTATGGCATCTTCCAGA 0.562 NA C||| 451 0.0900559 0.1861 0.0418 5008 , , NA 18260 0.0377 NA 0.0775 False NA ,,, NA NA NA 2504 0.0613 NA NA NA NA 0 C 725,3681 300.1+/-286.2 52,621,1530 172 136 148 357 4.4 1 10 dbSNP_120 148 600,8000 157.7+/-211.4 20,560,3720 no coding-synonymous LYZL1 NM_032517.4 72,1181,5250 TT,TC,CC 6.9767,16.4548,10.1876 119/195 29581527 1325,11681 2203 4300 6503 SO:0001819 synonymous_variant CCDS31174.1 10p12.1 2004-08-02 ENSG00000120563 ENSG00000120563 84569 3.2.1.1 30502 protein-coding gene gene with protein product NA 12477932 Standard NM_032517 XM_005252627 NA Approved MGC33408, LYC2 uc001iul.3 Q6UWQ5 OTTHUMG00000017880 ENST00000375500.3:c.357C>T chr10.hg19:g.29581527C>T NA Q5T921|Q8WW16 hg19 CCDS31174.1 0.02 14.078182 TGGxATC COVERED NOVEL LYZL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000047381.1 1 20.440379 KEEP 0 0 0 68 2378 CC 1 1 0 + 11 60 380 0 0 21.932276 347 60 13329 523 ENST00000375500.3 0.030726 1 MTPAP 55149 __UNKNOWN__ __UNKNOWN__ 10 30629136 30629136 __UNKNOWN__ Intron SNP G G A rs1047988 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:30629136G>A ENST00000263063.4 - 3 599 MTPAP_ENST00000488290.1_Intron|MTPAP_ENST00000358107.4_Intron NM_018109.3 NP_060579.3 Q9NVV4 PAPD1_HUMAN mitochondrial poly(A) polymerase NA NA cell death (GO:0008219)|histone mRNA catabolic process (GO:0071044)|mRNA polyadenylation (GO:0006378)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)|protein homodimerization activity (GO:0042803)|UTP binding (GO:0002134) breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 TAAAAGTTGAGGTACACCTAA 0.328 NA A||| 1130 0.225639 0.2156 0.1268 5008 , , NA 21576 0.2103 NA 0.2505 False NA ,,, NA NA NA 2504 0.2996 NA NA NA NA 0 A 1026,3380 721.0+/-409.1 133,760,1310 47 46 46 -4 0 10 dbSNP_86 46 2475,6125 688.8+/-404.3 376,1723,2201 no intron MTPAP NM_018109.3 509,2483,3511 AA,AG,GG 28.7791,23.2864,26.9183 30629136 3501,9505 2203 4300 6503 SO:0001627 intron_variant AL122121 CCDS7165.1 10p12.1 2014-01-30 2009-01-12 2009-01-12 ENSG00000107951 ENSG00000107951 55149 25532 protein-coding gene gene with protein product TUTase1 613669 PAP associated domain containing 1 PAPD1 NA 12239557, 15769737, 15547249 Standard NM_018109 NM_018109 NA Approved FLJ10486, mtPAP, SPAX4 uc001iva.4 Q9NVV4 OTTHUMG00000017895 ENST00000263063.4:c.555+18C>T chr10.hg19:g.30629136G>A NA D3DRX0|Q659E3|Q6P7E5|Q9HA74 hg19 CCDS7165.1 0.02 6.307673 TGAxGTA COVERED NOVEL MTPAP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000047426.2 1 10.83505 KEEP 0 0 0 36 1280 GG 0.999999 0.999999 0 - 7 60 258 0 0 16.544299 159 60 5929 218 ENST00000263063.4 0.042169 1 MTPAP 55149 __UNKNOWN__ __UNKNOWN__ 10 30629226 30629226 __UNKNOWN__ Missense_Mutation SNP G G A rs1047991 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:30629226G>A ENST00000263063.4 - 3 527 c.484C>T c.(484-486)Cgc>Tgc p.R162C MTPAP_ENST00000488290.1_5'UTR|MTPAP_ENST00000358107.4_Missense_Mutation_p.R292C NM_018109.3 NP_060579.3 Q9NVV4 PAPD1_HUMAN mitochondrial poly(A) polymerase 162 NA R -> C (in dbSNP:rs1047991). cell death (GO:0008219)|histone mRNA catabolic process (GO:0071044)|mRNA polyadenylation (GO:0006378)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)|protein homodimerization activity (GO:0042803)|UTP binding (GO:0002134) breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 GACCGTACGCGTGACCGTTCA 0.413 NA G||| 1094 0.21845 0.1929 0.121 5008 , , NA 19041 0.2103 NA 0.2495 False NA ,,, NA NA NA 2504 0.2986 NA NA NA NA 0 G CYS/ARG 935,3471 356.6+/-313.6 99,737,1367 126 113 117 484 -10.2 0 10 dbSNP_86 117 2476,6124 408.5+/-349.5 376,1724,2200 yes missense MTPAP NM_018109.3 180 475,2461,3567 AA,AG,GG 28.7907,21.2211,26.2264 benign 162/583 30629226 3411,9595 2203 4300 6503 SO:0001583 missense AL122121 CCDS7165.1 10p12.1 2014-01-30 2009-01-12 2009-01-12 ENSG00000107951 ENSG00000107951 55149 25532 protein-coding gene gene with protein product TUTase1 613669 PAP associated domain containing 1 PAPD1 NA 12239557, 15769737, 15547249 Standard NM_018109 NM_018109 NA Approved FLJ10486, mtPAP, SPAX4 uc001iva.4 Q9NVV4 OTTHUMG00000017895 ENST00000263063.4:c.484C>T chr10.hg19:g.30629226G>A ENSP00000263063:p.Arg162Cys NA D3DRX0|Q659E3|Q6P7E5|Q9HA74 hg19 CCDS7165.1 0.02 11.37356 CGCxTGA COVERED 455 0.20833333333333334 71 0.1443089430894309 57 0.1574585635359116 137 0.2395104895104895 190 0.25065963060686014 G 7.660 0.684719 0.14973 0.212211 0.287907 ENSG00000107951 ENST00000358107;ENST00000263063;ENST00000417581;ENST00000421701 T;T;T;T 0.45276 2.02;2.02;2.02;0.9 5.08 -10.2 0.00374 . 3.461010 0.00794 N 0.001365 T 0.00012 0.0000 N 0.08118 0 0.80722 P 0.0 B;B;B 0.18013 0.001;0.025;0.001 B;B;B 0.09377 0.001;0.004;0.001 T 0.12502 -1.0545 9 0.52906 T 0.07 13.6516 5.5208 0.16931 0.2334:0.0678:0.4959:0.2028 rs1047991;rs3187968;rs17295129;rs17569747;rs61559846;rs1047991 124;292;162 Q5T851;Q9NVV4-2;Q9NVV4 .;.;PAPD1_HUMAN C 292;162;97;124 ENSP00000350820:R292C;ENSP00000263063:R162C;ENSP00000404392:R97C;ENSP00000394118:R124C ENSP00000263063:R162C R - 1 0 MTPAP 30669232 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -3.273000 0.00531 -4.256000 0.00061 -3.879000 0.00017 CGC NOVEL MTPAP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000047426.2 2 21.366832 KEEP 0 0 0 71 2423 GG 1 1 0 - 11 60 405 0 0 25.607422 270 60 9132 413 ENST00000263063.4 0.039146 1 ZNF438 220929 __UNKNOWN__ __UNKNOWN__ 10 31165949 31165949 __UNKNOWN__ Silent SNP T T C rs556080099 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:31165949T>C ENST00000361310.3 - 5 344 c.15A>G c.(13-15)gtA>gtG p.V5V ZNF438_ENST00000375311.1_5'UTR|ZNF438_ENST00000413025.1_Silent_p.V5V|ZNF438_ENST00000442986.1_Silent_p.V5V|ZNF438_ENST00000436087.2_Silent_p.V5V|ZNF438_ENST00000331737.6_5'UTR|ZNF438_ENST00000538351.2_5'UTR|ZNF438_ENST00000452305.1_5'UTR Q7Z4V0 ZN438_HUMAN zinc finger protein 438 5 NA negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(175;0.0587) GTGGTACTGATACAGAATTCT 0.318 NA T||| 2 0.000399361 0.0 0.0 5008 , , NA 14861 0.002 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 124 110 115 NA NA 10 NA 31165949 2202 4293 6495 SO:0001819 synonymous_variant AK057323 CCDS7168.1, CCDS44369.1, CCDS53504.1 10p11.23 2006-02-15 ENSG00000183621 ENSG00000183621 220929 Zinc fingers, C2H2-type 21029 protein-coding gene gene with protein product NA Standard NM_182755 NM_182755 NA Approved bA330O11.1 uc010qeb.2 Q7Z4V0 OTTHUMG00000017904 ENST00000361310.3:c.15A>G chr10.hg19:g.31165949T>C NA A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65 hg19 CCDS7168.1 0.02 28.807829 TGAxACA COVERED NOVEL ZNF438-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000277006.1 3 35.80398 KEEP 0 0 0 119 3768 TT 1 1 0 - 25 60 959 0 0 62.552556 584 60 21536 916 ENST00000361310.3 0.041051 1 ZEB1 6935 __UNKNOWN__ __UNKNOWN__ 10 31816335 31816335 __UNKNOWN__ 3'UTR SNP T T A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:31816335T>A ENST00000320985.10 + 0 3628 ZEB1_ENST00000361642.5_3'UTR|ZEB1_ENST00000446923.2_3'UTR P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 NA NA cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270) NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4) 77 Prostate(175;0.0156) AAATACAAAATACAAAacaca 0.363 NA NA NA NA NA NA NA NA NA NA Ovarian(40;423 959 14296 36701 49589) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK091478 CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1 10p11.22 2014-02-14 2007-02-15 2007-02-15 ENSG00000148516 ENSG00000148516 6935 Zinc fingers, C2H2-type, Homeoboxes / ZF class 11642 protein-coding gene gene with protein product 189909 transcription factor 8 (represses interleukin 2 expression), posterior polymorphous corneal dystrophy 3 TCF8, PPCD3 NA 1427828, 1840704, 15384081, 16252232 Standard NM_030751 NM_001128128 NA Approved BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6 uc001ivu.4 P37275 OTTHUMG00000017907 ENST00000320985.10:c.*143T>A chr10.hg19:g.31816335T>A NA B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68 hg19 CCDS7169.1 0.02 1.51992 AAAxACA COVERED NOVEL ZEB1-018 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000419083.2 1 4.075888 KEEP 0 2 19 21 560 TT 0.999892 0.999002 0 + 6 60 149 0 2 8.937159 68 70 2067 111 ENST00000320985.10 0.081081 0.99911 ARHGAP12 94134 __UNKNOWN__ __UNKNOWN__ 10 32094751 32094751 __UNKNOWN__ 3'UTR SNP T T C rs1044798 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:32094751T>C ENST00000375250.5 - 0 4527 ARHGAP12_ENST00000311380.4_3'UTR|ARHGAP12_ENST00000492028.1_5'UTR NM_001270696.1|NM_001270698.1 NP_001257625.1|NP_001257627.1 Q8IWW6 RHG12_HUMAN Rho GTPase activating protein 12 NA NA morphogenesis of an epithelial sheet (GO:0002011)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829) GTPase activator activity (GO:0005096) NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2) 31 Prostate(175;0.0199) CTAAAGCATATTGTATTATTA 0.328 NA T||| 1215 0.242612 0.0923 0.3012 5008 , , NA 17659 0.4127 NA 0.2048 False NA ,,, NA NA NA 2504 0.2679 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY033594 CCDS7170.1, CCDS59214.1, CCDS59215.1, CCDS59216.1, CCDS73082.1 10p11.22 2013-01-10 ENSG00000165322 ENSG00000165322 94134 Rho GTPase activating proteins, Pleckstrin homology (PH) domain containing 16348 protein-coding gene gene with protein product 610577 NA 11854031 Standard NM_001270695 NA Approved FLJ20737, FLJ10971, FLJ21785 uc001ivz.2 Q8IWW6 OTTHUMG00000017911 ENST00000375250.5:c.*1835A>G chr10.hg19:g.32094751T>C NA B1ANY0|B1ANY1|B1ANY2|Q504X1|Q86UB3|Q8IWW7|Q8N3L1|Q9NT76 hg19 CCDS59215.1 0.02 7.123744 ATAxTGT COVERED NOVEL ARHGAP12-008 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000047464.1 1 3.58108 KEEP 0 2 72 37 1162 TT 1 1 0 - 8 60 305 0 0 20.438469 156 60 5702 242 ENST00000375250.5 0.04878 1 ARHGAP12 94134 __UNKNOWN__ __UNKNOWN__ 10 32094890 32094890 __UNKNOWN__ 3'UTR SNP C C A rs1023207 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:32094890C>A ENST00000375250.5 - 0 4388 ARHGAP12_ENST00000311380.4_3'UTR|ARHGAP12_ENST00000492028.1_5'UTR NM_001270696.1|NM_001270698.1 NP_001257625.1|NP_001257627.1 Q8IWW6 RHG12_HUMAN Rho GTPase activating protein 12 NA NA morphogenesis of an epithelial sheet (GO:0002011)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829) GTPase activator activity (GO:0005096) NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2) 31 Prostate(175;0.0199) CAAATACAGACTTTCTACCAC 0.358 NA A||| 2538 0.506789 0.5991 0.5375 5008 , , NA 17094 0.4187 NA 0.495 False NA ,,, NA NA NA 2504 0.4632 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY033594 CCDS7170.1, CCDS59214.1, CCDS59215.1, CCDS59216.1, CCDS73082.1 10p11.22 2013-01-10 ENSG00000165322 ENSG00000165322 94134 Rho GTPase activating proteins, Pleckstrin homology (PH) domain containing 16348 protein-coding gene gene with protein product 610577 NA 11854031 Standard NM_001270695 NA Approved FLJ20737, FLJ10971, FLJ21785 uc001ivz.2 Q8IWW6 OTTHUMG00000017911 ENST00000375250.5:c.*1696G>T chr10.hg19:g.32094890C>A NA B1ANY0|B1ANY1|B1ANY2|Q504X1|Q86UB3|Q8IWW7|Q8N3L1|Q9NT76 hg19 CCDS59215.1 0.02 8.614449 AGAxTTT COVERED NOVEL ARHGAP12-008 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000047464.1 2 10.897804 KEEP 0 3 96 70 2458 CC 1 1 0 - 13 60 471 0 0 31.842693 208 60 7835 360 ENST00000375250.5 0.058824 1 ARHGAP12 94134 __UNKNOWN__ __UNKNOWN__ 10 32095666 32095666 __UNKNOWN__ 3'UTR SNP T T C rs2799002 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:32095666T>C ENST00000375250.5 - 0 3612 ARHGAP12_ENST00000344936.2_3'UTR|ARHGAP12_ENST00000396144.4_3'UTR|ARHGAP12_ENST00000375245.4_3'UTR|ARHGAP12_ENST00000311380.4_3'UTR|ARHGAP12_ENST00000492028.1_5'UTR NM_001270696.1|NM_001270698.1 NP_001257625.1|NP_001257627.1 Q8IWW6 RHG12_HUMAN Rho GTPase activating protein 12 NA NA morphogenesis of an epithelial sheet (GO:0002011)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829) GTPase activator activity (GO:0005096) NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2) 31 Prostate(175;0.0199) AATAACGGACTATTTCTGGAG 0.313 NA T||| 1169 0.233427 0.0545 0.2983 5008 , , NA 18977 0.4127 NA 0.2107 False NA ,,, NA NA NA 2504 0.2679 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY033594 CCDS7170.1, CCDS59214.1, CCDS59215.1, CCDS59216.1, CCDS73082.1 10p11.22 2013-01-10 ENSG00000165322 ENSG00000165322 94134 Rho GTPase activating proteins, Pleckstrin homology (PH) domain containing 16348 protein-coding gene gene with protein product 610577 NA 11854031 Standard NM_001270695 NA Approved FLJ20737, FLJ10971, FLJ21785 uc001ivz.2 Q8IWW6 OTTHUMG00000017911 ENST00000375250.5:c.*920A>G chr10.hg19:g.32095666T>C NA B1ANY0|B1ANY1|B1ANY2|Q504X1|Q86UB3|Q8IWW7|Q8N3L1|Q9NT76 hg19 CCDS59215.1 0.02 6.114588 GACxATT COVERED NOVEL ARHGAP12-008 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000047464.1 1 8.359619 KEEP 0 1 32 39 1223 TT 1 1 0 - 11 60 404 0 0 27.458261 177 60 6502 268 ENST00000375250.5 0.058511 1 ARHGAP12 94134 __UNKNOWN__ __UNKNOWN__ 10 32106851 32106851 __UNKNOWN__ Intron SNP A A G rs2778650 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:32106851A>G ENST00000375250.5 - 11 1784 ARHGAP12_ENST00000344936.2_Intron|ARHGAP12_ENST00000396144.4_Intron|ARHGAP12_ENST00000375245.4_Intron|ARHGAP12_ENST00000311380.4_Intron|ARHGAP12_ENST00000492028.1_Intron NM_001270696.1|NM_001270698.1 NP_001257625.1|NP_001257627.1 Q8IWW6 RHG12_HUMAN Rho GTPase activating protein 12 NA NA morphogenesis of an epithelial sheet (GO:0002011)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829) GTPase activator activity (GO:0005096) NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2) 31 Prostate(175;0.0199) GAGTATGGTCAGTTTGTGCTT 0.343 NA G||| 2541 0.507388 0.6014 0.5375 5008 , , NA 17130 0.4187 NA 0.495 False NA ,,, NA NA NA 2504 0.4632 NA NA NA NA 0 G 2541,1865 526.5+/-371.9 732,1077,394 53 53 53 0.2 0 10 dbSNP_100 53 4341,4257 564.3+/-388.3 1085,2171,1043 no intron ARHGAP12 NM_018287.5 1817,3248,1437 GG,GA,AA 49.5115,42.3286,47.0778 32106851 6882,6122 2203 4299 6502 SO:0001627 intron_variant AY033594 CCDS7170.1, CCDS59214.1, CCDS59215.1, CCDS59216.1, CCDS73082.1 10p11.22 2013-01-10 ENSG00000165322 ENSG00000165322 94134 Rho GTPase activating proteins, Pleckstrin homology (PH) domain containing 16348 protein-coding gene gene with protein product 610577 NA 11854031 Standard NM_001270695 NA Approved FLJ20737, FLJ10971, FLJ21785 uc001ivz.2 Q8IWW6 OTTHUMG00000017911 ENST00000375250.5:c.1543-37T>C chr10.hg19:g.32106851A>G NA B1ANY0|B1ANY1|B1ANY2|Q504X1|Q86UB3|Q8IWW7|Q8N3L1|Q9NT76 hg19 CCDS59215.1 0.02 -0.421087 GTCxGTT COVERED NOVEL ARHGAP12-008 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000047464.1 0 6.920679 KEEP 0 0 0 23 719 AA 0.999892 0.9483 0 - 3 60 114 0 0 7.958869 45 60 1627 85 ENST00000375250.5 0.0625 0.948402 ARHGAP12 94134 __UNKNOWN__ __UNKNOWN__ 10 32120678 32120678 __UNKNOWN__ Silent SNP C C T rs2808100 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:32120678C>T ENST00000375250.5 - 8 1588 c.1347G>A c.(1345-1347)ggG>ggA p.G449G ARHGAP12_ENST00000344936.2_Silent_p.G479G|ARHGAP12_ENST00000396144.4_Silent_p.G474G|ARHGAP12_ENST00000375245.4_Silent_p.G427G|ARHGAP12_ENST00000311380.4_Silent_p.G427G NM_001270696.1|NM_001270698.1 NP_001257625.1|NP_001257627.1 Q8IWW6 RHG12_HUMAN Rho GTPase activating protein 12 479 NA morphogenesis of an epithelial sheet (GO:0002011)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829) GTPase activator activity (GO:0005096) NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2) 31 Prostate(175;0.0199) GAACCTTTTTCCCATTTTCAG 0.274 NA C||| 1211 0.241813 0.0908 0.2983 5008 , , NA 16121 0.4127 NA 0.2048 False NA ,,, NA NA NA 2504 0.2679 NA NA NA NA 0 C 476,3924 189.2+/-215.4 28,420,1752 116 109 111 1437 0.1 1 10 dbSNP_100 111 1747,6849 274.5+/-291.2 190,1367,2741 no coding-synonymous ARHGAP12 NM_018287.5 218,1787,4493 TT,TC,CC 20.3234,10.8182,17.1053 479/847 32120678 2223,10773 2200 4298 6498 SO:0001819 synonymous_variant AY033594 CCDS7170.1, CCDS59214.1, CCDS59215.1, CCDS59216.1, CCDS73082.1 10p11.22 2013-01-10 ENSG00000165322 ENSG00000165322 94134 Rho GTPase activating proteins, Pleckstrin homology (PH) domain containing 16348 protein-coding gene gene with protein product 610577 NA 11854031 Standard NM_001270695 NA Approved FLJ20737, FLJ10971, FLJ21785 uc001ivz.2 Q8IWW6 OTTHUMG00000017911 ENST00000375250.5:c.1347G>A chr10.hg19:g.32120678C>T NA B1ANY0|B1ANY1|B1ANY2|Q504X1|Q86UB3|Q8IWW7|Q8N3L1|Q9NT76 hg19 CCDS59215.1 0.02 4.27574 TTTxCCA COVERED 522 0.23901098901098902 44 0.08943089430894309 90 0.24861878453038674 219 0.38286713286713286 169 0.22295514511873352 c 9.190 1.025724 0.19512 0.108182 0.203234 ENSG00000165322 ENST00000454919 . . . 5.51 0.0976 0.14494 . . . . . T 0.00012 0.0000 . . . 0.09310 P 0.9999999999999265 . . . . . . T 0.43572 -0.9383 3 . . . . 5.5115 0.16884 0.1213:0.5113:0.0:0.3674 rs2808100;rs17582188;rs2808100 . . . K 150 . . E - 1 0 ARHGAP12 32160684 0.897000 0.30589 0.995000 0.50966 0.995000 0.86356 -0.141000 0.10327 -0.165000 0.10908 0.580000 0.79431 GAA NOVEL ARHGAP12-008 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000047464.1 1 8.728586 KEEP 0 0 0 29 1029 CC 0.999997 0.999993 0 - 5 60 185 0 0 11.976151 109 60 4035 186 ENST00000375250.5 0.04386 0.999996 ARHGAP12 94134 __UNKNOWN__ __UNKNOWN__ 10 32141460 32141460 __UNKNOWN__ Silent SNP T T C rs2799021 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:32141460T>C ENST00000375250.5 - 6 1396 c.1155A>G c.(1153-1155)gaA>gaG p.E385E ARHGAP12_ENST00000344936.2_Silent_p.E385E|ARHGAP12_ENST00000396144.4_Silent_p.E385E|ARHGAP12_ENST00000375245.4_Silent_p.E338E|ARHGAP12_ENST00000311380.4_Silent_p.E338E NM_001270696.1|NM_001270698.1 NP_001257625.1|NP_001257627.1 Q8IWW6 RHG12_HUMAN Rho GTPase activating protein 12 385 WW 2. {ECO:0000255|PROSITE- ProRule:PRU00224}. NA morphogenesis of an epithelial sheet (GO:0002011)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829) GTPase activator activity (GO:0005096) NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2) 31 Prostate(175;0.0199) GCAATTCCCATTCTGACCGAG 0.333 NA T||| 1161 0.231829 0.0545 0.2954 5008 , , NA 15238 0.4127 NA 0.2048 False NA ,,, NA NA NA 2504 0.2679 NA NA NA NA 0 T 371,4035 187.8+/-214.3 16,339,1848 100 99 99 1155 2.1 1 10 dbSNP_100 99 1826,6774 327.9+/-318.0 191,1444,2665 no coding-synonymous ARHGAP12 NM_018287.5 207,1783,4513 CC,CT,TT 21.2326,8.4203,16.8922 385/847 32141460 2197,10809 2203 4300 6503 SO:0001819 synonymous_variant AY033594 CCDS7170.1, CCDS59214.1, CCDS59215.1, CCDS59216.1, CCDS73082.1 10p11.22 2013-01-10 ENSG00000165322 ENSG00000165322 94134 Rho GTPase activating proteins, Pleckstrin homology (PH) domain containing 16348 protein-coding gene gene with protein product 610577 NA 11854031 Standard NM_001270695 NA Approved FLJ20737, FLJ10971, FLJ21785 uc001ivz.2 Q8IWW6 OTTHUMG00000017911 ENST00000375250.5:c.1155A>G chr10.hg19:g.32141460T>C NA B1ANY0|B1ANY1|B1ANY2|Q504X1|Q86UB3|Q8IWW7|Q8N3L1|Q9NT76 hg19 CCDS59215.1 0.02 12.424677 CCAxTCT COVERED 505 0.23122710622710624 28 0.056910569105691054 89 0.24585635359116023 219 0.38286713286713286 169 0.22295514511873352 T 9.049 0.991719 0.18966 0.084203 0.212326 ENSG00000165322 ENST00000454919 . . . 5.85 2.14 0.27477 . . . . . T 0.00012 0.0000 . . . 0.09310 P 1.0 . . . . . . T 0.38672 -0.9650 3 . . . . 10.3205 0.43762 0.0:0.2537:0.0:0.7463 rs2799021;rs17572817;rs56514703;rs2799021 . . . V 61 . . M - 1 0 ARHGAP12 32181466 0.998000 0.40836 0.997000 0.53966 0.961000 0.63080 0.386000 0.20702 0.108000 0.17862 0.455000 0.32223 ATG NOVEL ARHGAP12-008 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000047464.1 1 17.684938 KEEP 0 1 38 72 2267 TT 1 1 0 - 15 60 587 0 0 40.581011 260 60 9627 455 ENST00000375250.5 0.054545 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 32399317 32399317 __UNKNOWN__ IGR SNP C C T rs2988086 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:32399317C>T NA NA Y_RNA (53550 upstream) : RNU7-22P (63294 downstream) NA NA NA AATTTGCCAACGTTAAGAACA 0.567 NA C||| 1052 0.210064 0.0227 0.1657 5008 , , NA 19349 0.3671 NA 0.2296 False NA ,,, NA NA NA 2504 0.3129 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.32399317C>T NA hg19 0.02 4.295662 CAAxGTT COVERED NOVEL 0 1 6.311411 KEEP 0 0 0 21 676 CC 0.999869 0.999864 0 7 60 252 0 0 17.180681 105 60 3398 150 0.0625 0.999995 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 38117691 38117691 __UNKNOWN__ IGR SNP T T C rs200914 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:38117691T>C NA NA RP11-258F22.2 (36826 upstream) : ZNF248 (1 downstream) NA NA NA AATcaaacagtgcagggacaa 0.333 NA T||| 1374 0.274361 0.2073 0.2478 5008 , , NA 20242 0.4613 NA 0.2545 False NA ,,, NA NA NA 2504 0.2117 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.38117691T>C NA hg19 0.02 6.920725 CAGxGCA COVERED NOVEL 0 0 7.820177 KEEP 0 0 0 26 773 TT 0.999957 0.999957 0 9 60 332 0 0 22.633742 144 60 5183 222 0.058824 1 ZNF33A 7581 __UNKNOWN__ __UNKNOWN__ 10 38354006 38354006 __UNKNOWN__ 3'UTR SNP A A G rs370559510|rs2505218 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:38354006A>G ENST00000469037.2 + 0 1520 Q06730 ZN33A_HUMAN zinc finger protein 33A NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2) 46 ttgtttgtttatttgtttgtt 0.448 NA A||| 1181 0.235823 0.1536 0.2378 5008 , , NA 19661 0.4097 NA 0.2475 False NA ,,, NA NA NA 2504 0.1544 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D31763 CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1 10p11.2 2013-01-08 2005-03-18 ENSG00000189180 ENSG00000189180 7581 Zinc fingers, C2H2-type, - 13096 protein-coding gene gene with protein product zinc finger and ZAK associated protein with KRAB domain 194521 zinc finger protein 33a (KOX 31), zinc finger protein 11A ZNF33, ZNF11A NA 2014798, 8464732 Standard NM_006974 NM_006974 NA Approved KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK uc031pui.1 Q06730 OTTHUMG00000017983 ENST00000469037.2:c.*961A>G chr10.hg19:g.38354006A>G NA A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86 hg19 0.02 2.026713 TTTxTTT COVERED NOVEL ZNF33A-005 PUTATIVE basic protein_coding NA protein_coding OTTHUMT00000468014.1 0 3.910685 KEEP 0 0 0 13 391 AA 0.994391 0.987356 0 + 5 60 182 0 0 12.967894 59 60 2085 88 ENST00000469037.2 0.078125 0.992926 ZNF37A 7587 __UNKNOWN__ __UNKNOWN__ 10 38410108 38410108 __UNKNOWN__ 3'UTR SNP C C G rs176890 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:38410108C>G ENST00000361085.5 + 0 4374 ZNF37A_ENST00000351773.3_3'UTR NM_001178101.1|NM_003421.2 NP_001171572.1|NP_003412.1 P17032 ZN37A_HUMAN zinc finger protein 37A NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1) 28 gtttttgaggccagtacaacc 0.284 NA C||| 1038 0.207268 0.1876 0.2406 5008 , , NA 15410 0.25 NA 0.2485 False NA ,,, NA NA NA 2504 0.1237 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X69115 CCDS31183.1 10p11.2 2013-01-08 2006-05-11 ENSG00000075407 ENSG00000075407 7587 Zinc fingers, C2H2-type, - 13102 protein-coding gene gene with protein product zinc finger protein 37a (KOX 21) NA 2014798, 8464732 Standard NM_003421 NM_001178101 NA Approved KOX21, ZNF37 uc001izl.3 P17032 OTTHUMG00000017990 ENST00000361085.5:c.*2343C>G chr10.hg19:g.38410108C>G NA B3KRQ3|D3DRZ3|Q96B88 hg19 CCDS31183.1 0.02 4.168277 AGGxCAG COVERED NOVEL ZNF37A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000047624.2 2 11.437151 KEEP 0 0 0 38 1342 CC 1 1 0 + 6 60 221 0 0 14.04439 143 60 5301 222 ENST00000361085.5 0.040268 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 38939130 38939130 __UNKNOWN__ IGR SNP A A G rs72799752 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:38939130A>G NA NA RP11-291L22.4 (184026 upstream) : None (None downstream) NA NA NA atgagccacaacacccagccA 0.423 NA .||| 1029 0.205471 0.1952 0.2406 5008 , , NA 15472 0.2302 NA 0.2326 False NA ,,, NA NA NA 2504 0.1411 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.38939130A>G NA hg19 0.02 -0.42981 ACAxCAC COVERED NOVEL 0 3 3.008849 KEEP 1 0 0 10 307 AA 0.992708 0.947531 0 4 60 152 0 0 11.28838 40 60 1398 63 0.090909 0.954491 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 42385139 42385139 __UNKNOWN__ IGR SNP A A T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:42385139A>T NA NA None (None upstream) : AL031601.1 (345211 downstream) NA NA NA gaatggaatcagatgggatca 0.378 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.42385139A>T NA hg19 0.02 20.728361 ATCxGAT COVERED NOVEL 0 17 20.395817 KEEP 26 1 32 79 2490 AA 1 1 0 8 60 288 0 0 27.511371 9 48 301 687 0.470588 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 42385595 42385595 __UNKNOWN__ IGR SNP T T C rs9665576 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:42385595T>C NA NA None (None upstream) : AL031601.1 (344755 downstream) NA NA NA tgtcatcaaatggaattcaaa 0.343 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.42385595T>C NA hg19 0.02 17.585929 AAAxGGA COVERED NOVEL 0 49 16.539376 KEEP 70 3 103 91 2861 TT 1 1 0 15 49 534 0 0 34.423387 298 60 11092 773 0.047923 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 42385610 42385610 __UNKNOWN__ IGR SNP T T A rs60571574 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:42385610T>A NA NA None (None upstream) : AL031601.1 (344740 downstream) NA NA NA ttcaaaggaatcatcatcaaa 0.338 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.42385610T>A NA hg19 0.02 17.858259 GAAxCAT COVERED NOVEL 0 49 19.634982 KEEP 77 3 99 100 3143 TT 1 1 0 18 54 647 1 0 42.991117 311 60 11457 760 0.054711 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 42385627 42385627 __UNKNOWN__ IGR SNP C C T rs74206654|rs9703387 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:42385627C>T NA NA None (None upstream) : AL031601.1 (344723 downstream) NA NA NA caaatggaaccgaatggaatc 0.333 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.42385627C>T NA hg19 0.02 17.396833 AACxGAA COVERED NOVEL 0 49 4.185779 KEEP 85 8 236 97 3281 CC 1 1 0 25 50 950 1 0 69.644439 273 50 9352 731 0.083893 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 42386952 42386952 __UNKNOWN__ IGR SNP T T A rs141734490 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:42386952T>A NA NA None (None upstream) : AL031601.1 (343398 downstream) NA NA NA aatcatcgaatggactcgaat 0.363 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.42386952T>A NA hg19 0.02 1.64603 GAAxGGA COVERED NOVEL 0 33 9.557475 KEEP 13 1 35 44 1322 TT 1 0.99994 0 5 42 174 0 0 11.871444 68 47 2468 173 0.068493 0.99994 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 42387922 42387922 __UNKNOWN__ IGR SNP A A T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:42387922A>T NA NA None (None upstream) : AL031601.1 (342428 downstream) NA NA NA tcaacatcaaacggaatcaaa 0.363 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.42387922A>T NA hg19 0.02 1.889437 CAAxCGG COVERED NOVEL 0 28 13.276141 KEEP 75 1 31 55 1814 AA 0.999997 0.999859 0 3 49 113 0 0 9.060216 17 50 585 270 0.15 0.999862 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 42387958 42387958 __UNKNOWN__ IGR SNP G G C rs149612337 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:42387958G>C NA NA None (None upstream) : AL031601.1 (342392 downstream) NA NA NA gaatcgaagagaatcatcgaa 0.368 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.42387958G>C NA hg19 0.02 1.903668 AGAxAAT COVERED NOVEL 0 29 3.820103 KEEP 66 3 107 50 1731 GG 0.999998 0.99899 0 3 49 108 0 0 8.491489 18 50 686 227 0.142857 0.998993 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 42392729 42392729 __UNKNOWN__ IGR SNP C C G rs143507773 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:42392729C>G NA NA None (None upstream) : AL031601.1 (337621 downstream) NA NA NA caaatggaatcgaatggaatt 0.368 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.42392729C>G NA hg19 0.02 9.462287 AATxGAA COVERED NOVEL 0 66 6.332496 KEEP 33 6 212 95 3192 CC 1 1 0 9 49 344 0 0 22.602338 199 60 7112 507 0.043269 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 42393771 42393771 __UNKNOWN__ IGR SNP T T A rs74212513 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:42393771T>A NA NA None (None upstream) : AL031601.1 (336579 downstream) NA NA NA tggaatcgaatggaatcattg 0.343 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.42393771T>A NA hg19 0.02 8.345176 GAAxGGA COVERED NOVEL 0 47 7.597723 KEEP 68 5 171 85 2679 TT 1 1 0 11 27 388 1 1 31.056867 56 47 2050 472 0.164179 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 42528017 42528017 __UNKNOWN__ IGR SNP A A G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:42528017A>G NA NA None (None upstream) : AL031601.1 (202333 downstream) NA NA NA tcttctgtctagcattatatg 0.378 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.42528017A>G NA hg19 0.02 25.190016 TCTxGCA COVERED NOVEL 0 303 43.702564 KEEP 147 11 401 285 9130 AA 1 1 0 11 60 410 0 2 34.394114 43 60 1629 1357 0.203704 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 42598076 42598076 __UNKNOWN__ IGR SNP C C T rs144113954 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:42598076C>T NA NA None (None upstream) : AL031601.1 (132274 downstream) NA NA NA caaatggaaccgaatggaatc 0.343 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.42598076C>T NA hg19 0.02 3.965524 AACxGAA COVERED NOVEL 0 16 6.956982 KEEP 66 1 34 35 1149 CC 0.999869 0.999869 0 5 40 185 0 0 12.335185 92 40 3219 251 0.051546 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 42599347 42599347 __UNKNOWN__ IGR SNP A A T rs77956088 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:42599347A>T NA NA None (None upstream) : AL031601.1 (131003 downstream) NA NA NA tcaaatggaaaggaatggagt 0.358 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.42599347A>T NA hg19 0.02 -0.245635 GAAxGGA UNCOVERED NOVEL 0 7 3.009175 KEEP 11 0 0 10 316 AA 0 0 0 3 40 102 0 0 9.143551 6 40 214 49 0.333333 0.641347 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 42681108 42681108 __UNKNOWN__ IGR SNP C C A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:42681108C>A NA NA None (None upstream) : AL031601.1 (49242 downstream) NA NA NA ATGCTGCATCCAGTCTGCAAA 0.483 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.42681108C>A NA hg19 0.02 23.681244 ATCxAGT COVERED NOVEL 0 2 6.860013 KEEP 255 4 132 69 2427 CC 0.999997 0.999997 0 54 33 2000 0 0 152.748758 422 43 16008 963 0.113445 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 42681152 42681152 __UNKNOWN__ IGR SNP C C T rs111787724 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:42681152C>T NA NA None (None upstream) : AL031601.1 (49198 downstream) NA NA NA GACAGTGGATCTGGGACAGAT 0.473 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.42681152C>T NA hg19 0.02 26.553594 GATxTGG COVERED NOVEL 0 3 11.372381 KEEP 158 4 111 77 2661 CC 1 1 0 40 42 1436 0 0 98.822317 562 60 21395 1000 0.066445 1 ZNF37BP 100129482 __UNKNOWN__ __UNKNOWN__ 10 43015782 43015782 __UNKNOWN__ RNA SNP T T G rs7068874 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:43015782T>G ENST00000452075.3 - 0 1812 NR_026777.1 zinc finger protein 37B, pseudogene NA NA NA GTTCTCTGATTTTGAGTAAGG 0.408 NA G||| 758 0.151358 0.2156 0.1816 5008 , , NA 20307 0.1667 NA 0.0934 False NA ,,, NA NA NA 2504 0.0869 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AK026980 10q11.21 2012-10-05 2010-08-03 2010-08-03 ENSG00000234420 ENSG00000234420 100129482 13103 pseudogene pseudogene zinc finger protein 37b (KOX 21), zinc finger protein 37B, zinc finger protein 37B (pseudogene) ZNF37B NA 2014798, 8464732 Standard NR_026777 NR_026777 NA Approved KOX21, FLJ23327 uc001jab.4 OTTHUMG00000018011 ENST00000452075.3: chr10.hg19:g.43015782T>G NA hg19 0.02 1.889847 GATxTTG COVERED NOVEL ZNF37BP-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000047675.2 0 3.911436 KEEP 0 0 0 13 407 TT 0.994391 0.994253 0 - 4 60 143 0 0 9.087405 87 60 3094 110 ENST00000452075.3 0.043956 0.999862 ZNF37BP 100129482 __UNKNOWN__ __UNKNOWN__ 10 43046109 43046109 __UNKNOWN__ RNA SNP T T G rs11239669 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:43046109T>G ENST00000452075.3 - 0 709 NR_026777.1 zinc finger protein 37B, pseudogene NA NA NA TGCCTAAAAATGTCCACCTCC 0.433 NA G||| 759 0.151558 0.2156 0.1816 5008 , , NA 16706 0.1677 NA 0.0934 False NA ,,, NA NA NA 2504 0.0869 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AK026980 10q11.21 2012-10-05 2010-08-03 2010-08-03 ENSG00000234420 ENSG00000234420 100129482 13103 pseudogene pseudogene zinc finger protein 37b (KOX 21), zinc finger protein 37B, zinc finger protein 37B (pseudogene) ZNF37B NA 2014798, 8464732 Standard NR_026777 NR_026777 NA Approved KOX21, FLJ23327 uc001jab.4 OTTHUMG00000018011 ENST00000452075.3: chr10.hg19:g.43046109T>G NA hg19 0.02 6.56955 AAAxGTC COVERED NOVEL ZNF37BP-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000047675.2 0 6.319181 KEEP 0 0 0 21 664 TT 0.999869 0.999869 0 - 6 60 225 0 0 14.273008 153 60 5505 205 ENST00000452075.3 0.037736 1 ZNF33B 7582 __UNKNOWN__ __UNKNOWN__ 10 43078282 43078282 __UNKNOWN__ RNA SNP C C G rs11239687 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:43078282C>G ENST00000486187.1 - 0 700 Q06732 ZN33B_HUMAN zinc finger protein 33B NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1) 29 CCCTGGGCCCCAGGTGAGTCC 0.552 NA C||| 337 0.0672923 0.0953 0.0115 5008 , , NA 18878 0.1468 NA 0.0 False NA ,,, NA NA NA 2504 0.0562 NA NA NA Melanoma(137;1247 1767 16772 25727 43810) NA 0 NA NA NA NA NA NA NA NA NA NA X68688, AJ491697 CCDS7198.1 10q11.2 2013-01-08 2005-03-18 ENSG00000196693 ENSG00000196693 7582 Zinc fingers, C2H2-type, - 13097 protein-coding gene gene with protein product 194522 zinc finger protein 33b (KOX 31), zinc finger protein 11B ZNF11B NA 2014798 Standard NM_006955 NM_006955 NA Approved KOX31, KOX2 uc001jaf.1 Q06732 OTTHUMG00000018014 ENST00000486187.1: chr10.hg19:g.43078282C>G NA Q06731|Q32MA2|Q86XY8|Q8NDW3 hg19 0.02 6.641139 CCCxAGG COVERED NOVEL ZNF33B-006 KNOWN basic processed_transcript NA processed_transcript OTTHUMT00000047683.1 1 4.815656 KEEP 0 0 0 16 562 CC 0.997832 0.997832 0 - 8 60 282 0 0 17.715637 177 60 6676 244 ENST00000486187.1 0.043243 1 ZNF33B 7582 __UNKNOWN__ __UNKNOWN__ 10 43084726 43084726 __UNKNOWN__ 3'UTR SNP T T C rs10900253 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:43084726T>C ENST00000359467.3 - 0 5786 ZNF33B_ENST00000486187.1_RNA NM_006955.1 NP_008886.1 Q06732 ZN33B_HUMAN zinc finger protein 33B NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1) 29 ttatggttcatttgttacaat 0.373 NA T||| 1071 0.213858 0.4062 0.2003 5008 , , NA 18516 0.2113 NA 0.1024 False NA ,,, NA NA NA 2504 0.0808 NA NA NA Melanoma(137;1247 1767 16772 25727 43810) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X68688, AJ491697 CCDS7198.1 10q11.2 2013-01-08 2005-03-18 ENSG00000196693 ENSG00000196693 7582 Zinc fingers, C2H2-type, - 13097 protein-coding gene gene with protein product 194522 zinc finger protein 33b (KOX 31), zinc finger protein 11B ZNF11B NA 2014798 Standard NM_006955 NM_006955 NA Approved KOX31, KOX2 uc001jaf.1 Q06732 OTTHUMG00000018014 ENST00000359467.3:c.*3335A>G chr10.hg19:g.43084726T>C NA Q06731|Q32MA2|Q86XY8|Q8NDW3 hg19 CCDS7198.1 0.02 9.2534 TCAxTTG COVERED NOVEL ZNF33B-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding 2 6.018733 KEEP 0 0 0 20 656 TT 0.999863 0.999863 0 - 8 70 302 0 0 18.807937 231 60 8487 305 ENST00000359467.3 0.033473 1 ZNF33B 7582 __UNKNOWN__ __UNKNOWN__ 10 43086992 43086992 __UNKNOWN__ 3'UTR SNP A A C rs10490937 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:43086992A>C ENST00000359467.3 - 0 3520 ZNF33B_ENST00000486187.1_RNA NM_006955.1 NP_008886.1 Q06732 ZN33B_HUMAN zinc finger protein 33B NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1) 29 gggcctgATGAAGTAACCACT 0.333 NA A||| 333 0.0664936 0.0946 0.0115 5008 , , NA 19698 0.1429 NA 0.0 False NA ,,, NA NA NA 2504 0.0573 NA NA NA Melanoma(137;1247 1767 16772 25727 43810) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X68688, AJ491697 CCDS7198.1 10q11.2 2013-01-08 2005-03-18 ENSG00000196693 ENSG00000196693 7582 Zinc fingers, C2H2-type, - 13097 protein-coding gene gene with protein product 194522 zinc finger protein 33b (KOX 31), zinc finger protein 11B ZNF11B NA 2014798 Standard NM_006955 NM_006955 NA Approved KOX31, KOX2 uc001jaf.1 Q06732 OTTHUMG00000018014 ENST00000359467.3:c.*1069T>G chr10.hg19:g.43086992A>C NA Q06731|Q32MA2|Q86XY8|Q8NDW3 hg19 CCDS7198.1 0.02 9.441542 ATGxAGT COVERED NOVEL ZNF33B-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding 2 7.520751 KEEP 0 0 0 25 790 AA 0.999931 0.999931 0 - 10 60 389 0 0 25.831578 219 60 7970 308 ENST00000359467.3 0.043668 1 ZNF33B 7582 __UNKNOWN__ __UNKNOWN__ 10 43088919 43088919 __UNKNOWN__ Silent SNP T T G rs75611698 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:43088919T>G ENST00000359467.3 - 5 1593 c.1479A>C c.(1477-1479)ggA>ggC p.G493G ZNF33B_ENST00000486187.1_RNA NM_006955.1 NP_008886.1 Q06732 ZN33B_HUMAN zinc finger protein 33B 493 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1) 29 AAGGTTTATCTCCTATGTGAG 0.388 NA T||| 343 0.0684904 0.1006 0.0115 5008 , , NA 21111 0.1448 NA 0.0 False NA ,,, NA NA NA 2504 0.0573 NA NA NA Melanoma(137;1247 1767 16772 25727 43810) NA 0 T 382,4024 192.3+/-217.7 18,346,1839 98 93 95 1479 -3.5 0.6 10 dbSNP_131 95 6,8592 5.0+/-18.6 0,6,4293 no coding-synonymous ZNF33B NM_006955.1 18,352,6132 GG,GT,TT 0.0698,8.67,2.9837 493/779 43088919 388,12616 2203 4299 6502 SO:0001819 synonymous_variant X68688, AJ491697 CCDS7198.1 10q11.2 2013-01-08 2005-03-18 ENSG00000196693 ENSG00000196693 7582 Zinc fingers, C2H2-type, - 13097 protein-coding gene gene with protein product 194522 zinc finger protein 33b (KOX 31), zinc finger protein 11B ZNF11B NA 2014798 Standard NM_006955 NM_006955 NA Approved KOX31, KOX2 uc001jaf.1 Q06732 OTTHUMG00000018014 ENST00000359467.3:c.1479A>C chr10.hg19:g.43088919T>G NA Q06731|Q32MA2|Q86XY8|Q8NDW3 hg19 CCDS7198.1 0.02 9.553075 ATCxCCT COVERED NOVEL ZNF33B-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding 2 11.7353 KEEP 0 0 0 39 1238 TT 1 1 0 - 10 60 341 1 0 20.091169 274 60 10152 382 ENST00000359467.3 0.035211 1 ZNF33B 7582 __UNKNOWN__ __UNKNOWN__ 10 43109639 43109639 __UNKNOWN__ Intron SNP C C A rs158380 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:43109639C>A ENST00000359467.3 - 4 365 ZNF33B_ENST00000486187.1_RNA NM_006955.1 NP_008886.1 Q06732 ZN33B_HUMAN zinc finger protein 33B NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1) 29 aggtactttactactgtggcc 0.333 NA N||| 335 0.066893 0.0946 0.0115 5008 , , NA 22204 0.1448 NA 0.0 False NA ,,, NA NA NA 2504 0.0573 NA NA NA Melanoma(137;1247 1767 16772 25727 43810) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X68688, AJ491697 CCDS7198.1 10q11.2 2013-01-08 2005-03-18 ENSG00000196693 ENSG00000196693 7582 Zinc fingers, C2H2-type, - 13097 protein-coding gene gene with protein product 194522 zinc finger protein 33b (KOX 31), zinc finger protein 11B ZNF11B NA 2014798 Standard NM_006955 NM_006955 NA Approved KOX31, KOX2 uc001jaf.1 Q06732 OTTHUMG00000018014 ENST00000359467.3:c.250+17737G>T chr10.hg19:g.43109639C>A NA Q06731|Q32MA2|Q86XY8|Q8NDW3 hg19 CCDS7198.1 0.02 4.473089 TTAxTAC COVERED NOVEL ZNF33B-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding 1 4.515015 KEEP 0 0 0 15 564 CC 0.997832 0.997832 0 - 5 60 185 0 0 11.57011 132 60 5056 187 ENST00000359467.3 0.036496 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 43232419 43232419 __UNKNOWN__ IGR SNP A A G rs618687 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:43232419A>G NA NA AL022344.5 (30518 upstream) : AL022344.7 (14206 downstream) NA NA NA ACATGGAGGAAGATGAGAGTT 0.418 NA G||| 1333 0.266174 0.3888 0.2176 5008 , , NA 18694 0.3185 NA 0.1481 False NA ,,, NA NA NA 2504 0.2025 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.43232419A>G NA hg19 0.02 6.827552 GGAxGAT COVERED NOVEL 0 2 2.407638 KEEP 0 0 0 8 265 AA 0.99257 0.99257 0 6 60 232 0 0 14.716441 169 60 6007 199 0.034286 1 BMS1 9790 __UNKNOWN__ __UNKNOWN__ 10 43326627 43326627 __UNKNOWN__ 3'UTR SNP A A C rs7133 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:43326627A>C ENST00000374518.5 + 0 3995 NM_014753.3 NP_055568.3 Q14692 BMS1_HUMAN BMS1 ribosome biogenesis factor NA NA ribosome assembly (GO:0042255) nucleolus (GO:0005730)|nucleus (GO:0005634) ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822) NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 GTGAATGACAAGTCAGTGGGA 0.517 NA A||| 2461 0.491414 0.5053 0.4236 5008 , , NA 17873 0.626 NA 0.3141 False NA ,,, NA NA NA 2504 0.5644 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC043345 CCDS7199.1 10q11.21 2013-05-01 2013-05-01 2007-03-20 ENSG00000165733 ENSG00000165733 9790 23505 protein-coding gene gene with protein product 611448 BMS1-like, ribosome assembly protein (yeast), BMS1 homolog, ribosome assembly protein (yeast) BMS1L NA 11779832 Standard NM_014753 NM_014753 NA Approved KIAA0187 uc001jaj.3 Q14692 OTTHUMG00000018020 ENST00000374518.5:c.*83A>C chr10.hg19:g.43326627A>C NA Q5QPT5|Q86XJ9 hg19 CCDS7199.1 0.02 6.173253 ACAxGTC COVERED NOVEL BMS1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000047690.2 0 6.01842 KEEP 0 0 0 20 644 AA 0.999863 0.999863 0 + 10 60 363 0 0 24.560618 160 60 5772 212 ENST00000374518.5 0.058824 1 RET 5979 __UNKNOWN__ __UNKNOWN__ 10 43606687 43606687 __UNKNOWN__ Silent SNP A A G rs386743165|rs1800860 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:43606687A>G ENST00000355710.3 + 7 1528 c.1296A>G c.(1294-1296)gcA>gcG p.A432A RET_ENST00000340058.5_Silent_p.A432A NM_020975.4 NP_066124.1 P07949 RET_HUMAN ret proto-oncogene 432 NA A -> E (in CCHS). {ECO:0000269|PubMed:14566559}. activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657) endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235) ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714) CCDC6/RET(4)|KIF5B/RET(79) NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1) 607 Ovarian(717;0.0423) Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398) ACTGCCAGGCATTCAGTGGCA 0.592 1 T, Mis, N, F H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6 medullary thyroid, papillary thyroid, pheochromocytoma, NSCLC medullary thyroid, papillary thyroid, pheochromocytoma Hirschsprung disease Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma G||| 3882 0.77516 0.8903 0.6239 5008 , , NA 17338 0.8006 NA 0.7237 False NA ,,, NA NA NA 2504 0.7536 NA NA NA Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149) yes Dom yes Multiple endocrine neoplasia 2A/2B 10 10q11.2 5979 ret proto-oncogene yes E, O 0 GRCh37 CM033447 RET M rs1800860 G , 3800,606 264.7+/-266.2 1636,528,39 119 107 111 1296,1296 1.4 0.3 10 dbSNP_89 111 5936,2664 428.1+/-355.8 2061,1814,425 no coding-synonymous,coding-synonymous RET NM_020630.4,NM_020975.4 , 3697,2342,464 GG,GA,AA 30.9767,13.754,25.1422 , 432/1073,432/1115 43606687 9736,3270 2203 4300 6503 SO:0001819 synonymous_variant Familial Cancer Database MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC BC004257 CCDS7200.1, CCDS53525.1 10q11.2 2014-09-17 2007-02-16 ENSG00000165731 ENSG00000165731 5979 Cadherins / Cadherin-related 9967 protein-coding gene gene with protein product cadherin-related family member 16 164761 multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease 1 HSCR1, MEN2A, MTC1, MEN2B NA 2687772, 1611909 Standard NM_020975 NM_020975 NA Approved PTC, CDHF12, RET51, CDHR16 uc001jal.3 P07949 OTTHUMG00000018024 ENST00000355710.3:c.1296A>G chr10.hg19:g.43606687A>G NA A8K6Z2|Q15250|Q9BTB0|Q9H4A2 hg19 CCDS7200.1 0.02 16.367326 GGCxTTC COVERED NOVEL RET-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000047694.2 2 19.9913 KEEP 0 1 33 78 2411 AA 1 1 0 + 24 60 840 0 0 56.916093 345 60 12709 573 ENST00000355710.3 0.065041 1 RET 5979 __UNKNOWN__ __UNKNOWN__ 10 43623812 43623812 __UNKNOWN__ 3'UTR SNP C C T rs17028 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:43623812C>T ENST00000355710.3 + 0 3672 NM_020975.4 NP_066124.1 P07949 RET_HUMAN ret proto-oncogene NA NA activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657) endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235) ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714) CCDC6/RET(4)|KIF5B/RET(79) NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1) 607 Ovarian(717;0.0423) Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398) TCACATTGGCCGAGCCGTGTT 0.453 1 T, Mis, N, F H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6 medullary thyroid, papillary thyroid, pheochromocytoma, NSCLC medullary thyroid, papillary thyroid, pheochromocytoma Hirschsprung disease Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma C||| 684 0.136581 0.0083 0.1585 5008 , , NA 19151 0.1994 NA 0.2117 False NA ,,, NA NA NA 2504 0.1524 NA NA NA Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149) yes Dom yes Multiple endocrine neoplasia 2A/2B 10 10q11.2 5979 ret proto-oncogene yes E, O 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Familial Cancer Database MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC BC004257 CCDS7200.1, CCDS53525.1 10q11.2 2014-09-17 2007-02-16 ENSG00000165731 ENSG00000165731 5979 Cadherins / Cadherin-related 9967 protein-coding gene gene with protein product cadherin-related family member 16 164761 multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease 1 HSCR1, MEN2A, MTC1, MEN2B NA 2687772, 1611909 Standard NM_020975 NM_020975 NA Approved PTC, CDHF12, RET51, CDHR16 uc001jal.3 P07949 OTTHUMG00000018024 ENST00000355710.3:c.*95C>T chr10.hg19:g.43623812C>T NA A8K6Z2|Q15250|Q9BTB0|Q9H4A2 hg19 CCDS7200.1 0.02 25.656685 GGCxGAG COVERED NOVEL RET-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000047694.2 1 24.11243 KEEP 0 1 34 92 3148 CC 1 1 0 + 23 60 875 0 0 56.82942 537 60 17700 807 ENST00000355710.3 0.041071 1 RET 5979 __UNKNOWN__ __UNKNOWN__ 10 43624833 43624833 __UNKNOWN__ 3'UTR SNP T T C rs2435355 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:43624833T>C ENST00000355710.3 + 0 4693 NM_020975.4 NP_066124.1 P07949 RET_HUMAN ret proto-oncogene NA NA activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657) endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235) ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714) CCDC6/RET(4)|KIF5B/RET(79) NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1) 607 Ovarian(717;0.0423) Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398) TTATAGAGCCTGTGTGAAAGG 0.408 1 T, Mis, N, F H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6 medullary thyroid, papillary thyroid, pheochromocytoma, NSCLC medullary thyroid, papillary thyroid, pheochromocytoma Hirschsprung disease Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma T||| 951 0.189896 0.1483 0.2104 5008 , , NA 21561 0.2004 NA 0.2356 False NA ,,, NA NA NA 2504 0.1738 NA NA NA Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149) yes Dom yes Multiple endocrine neoplasia 2A/2B 10 10q11.2 5979 ret proto-oncogene yes E, O 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Familial Cancer Database MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC BC004257 CCDS7200.1, CCDS53525.1 10q11.2 2014-09-17 2007-02-16 ENSG00000165731 ENSG00000165731 5979 Cadherins / Cadherin-related 9967 protein-coding gene gene with protein product cadherin-related family member 16 164761 multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease 1 HSCR1, MEN2A, MTC1, MEN2B NA 2687772, 1611909 Standard NM_020975 NM_020975 NA Approved PTC, CDHF12, RET51, CDHR16 uc001jal.3 P07949 OTTHUMG00000018024 ENST00000355710.3:c.*1116T>C chr10.hg19:g.43624833T>C NA A8K6Z2|Q15250|Q9BTB0|Q9H4A2 hg19 CCDS7200.1 0.02 6.442988 GCCxGTG COVERED NOVEL RET-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000047694.2 3 8.958639 KEEP 0 1 29 40 1224 TT 1 1 0 + 11 60 384 0 0 26.194546 151 60 5647 231 ENST00000355710.3 0.067901 1 CSGALNACT2 55454 __UNKNOWN__ __UNKNOWN__ 10 43678796 43678796 __UNKNOWN__ Missense_Mutation SNP C C T rs2435381 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:43678796C>T ENST00000374466.3 + 8 1770 c.1435C>T c.(1435-1437)Cct>Tct p.P479S NM_018590.3 NP_061060.3 Q8N6G5 CGAT2_HUMAN chondroitin sulfate N-acetylgalactosaminyltransferase 2 479 NA P -> S (in dbSNP:rs2435381). {ECO:0000269|PubMed:17974005}. carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050652)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281) Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020) acetylgalactosaminyltransferase activity (GO:0008376)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872) endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 GACTCCGGTTCCTGGTCTTTT 0.493 NA C||| 794 0.158546 0.0204 0.1945 5008 , , NA 18543 0.1974 NA 0.2644 False NA ,,, NA NA NA 2504 0.1708 NA NA NA NA 0 C SER/PRO 306,4100 166.2+/-197.5 12,282,1909 140 138 138 1435 5.9 1 10 dbSNP_100 138 2293,6307 387.6+/-342.3 316,1661,2323 no missense CSGALNACT2 NM_018590.3 74 328,1943,4232 TT,TC,CC 26.6628,6.9451,19.9831 benign 479/543 43678796 2599,10407 2203 4300 6503 SO:0001583 missense AF116646 CCDS7201.1 10q11.21 2013-02-19 ENSG00000169826 ENSG00000169826 55454 Beta 4-glycosyltransferases 24292 protein-coding gene gene with protein product chondroitin beta1,4 N-acetylgalactosaminyltransferase 2 NA 12446672 Standard NM_018590 NM_018590 NA Approved GALNACT2, MGC40204, PRO0082, GALNACT-2 uc001jan.4 Q8N6G5 OTTHUMG00000018023 ENST00000374466.3:c.1435C>T chr10.hg19:g.43678796C>T ENSP00000363590:p.Pro479Ser NA B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6 hg19 CCDS7201.1 0.02 15.21111 GTTxCTG COVERED 402 0.18406593406593408 16 0.032520325203252036 79 0.21823204419889503 115 0.20104895104895104 192 0.2532981530343008 C 13.73 2.324034 0.41096 0.069451 0.266628 ENSG00000169826 ENST00000374466 T 0.28069 1.63 5.87 5.87 0.94306 . 0.145736 0.64402 N 0.000004 T 0.00012 0.0000 L 0.39566 1.225 0.09310 P 1.0 B 0.25521 0.128 B 0.27887 0.084 T 0.23440 -1.0188 9 0.40728 T 0.16 -13.0868 20.5827 0.99408 0.0:1.0:0.0:0.0 rs2435381;rs3758518;rs17435753;rs2435381 479 Q8N6G5 CGAT2_HUMAN S 479 ENSP00000363590:P479S ENSP00000363590:P479S P + 1 0 CSGALNACT2 42998802 0.941000 0.31946 1.000000 0.80357 0.989000 0.77384 2.883000 0.48554 2.941000 0.99782 0.655000 0.94253 CCT NOVEL CSGALNACT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000047693.1 0 10.202438 KEEP 0 2 63 56 1965 CC 1 1 0 + 14 60 518 0 0 32.893127 340 60 12681 516 ENST00000374466.3 0.039548 1 RASGEF1A 221002 __UNKNOWN__ __UNKNOWN__ 10 43695049 43695049 __UNKNOWN__ Intron SNP T T C rs1254964 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:43695049T>C ENST00000374459.1 - 7 958 RASGEF1A_ENST00000395809.1_Intron|RASGEF1A_ENST00000395810.1_Intron NM_001282862.1 NP_001269791.1 Q8N9B8 RGF1A_HUMAN RasGEF domain family, member 1A NA NA cell migration (GO:0016477)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|small GTPase mediated signal transduction (GO:0007264) intracellular (GO:0005622) Ras guanyl-nucleotide exchange factor activity (GO:0005088) cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2) 11 CATCATCTAATTCCTGGGGCA 0.557 NA C||| 4140 0.826677 0.8185 0.7853 5008 , , NA 22010 0.9395 NA 0.7087 False NA ,,, NA NA NA 2504 0.8722 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK095136 CCDS7202.2, CCDS60517.1 10q11.21 2006-01-11 ENSG00000198915 ENSG00000198915 221002 24246 protein-coding gene gene with protein product 614531 NA 12477932 Standard NM_145313 XM_005271808 NA Approved CG4853, FLJ37817 uc001jap.1 Q8N9B8 OTTHUMG00000018025 ENST00000374459.1:c.873+74A>G chr10.hg19:g.43695049T>C NA Q8TBF1 hg19 0.02 11.870121 TAAxTCC COVERED NOVEL RASGEF1A-002 NOVEL basic|appris_principal protein_coding NA protein_coding OTTHUMT00000047696.2 0 5.653349 KEEP 0 1 38 32 1013 TT 0.999998 0.999998 0 - 17 60 634 0 0 43.991232 252 60 9180 378 ENST00000374459.1 0.063197 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 44099408 44099408 __UNKNOWN__ IGR SNP C C G rs2066045 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:44099408C>G NA NA ZNF239 (29342 upstream) : ZNF485 (2446 downstream) NA NA NA CAGTGCTGTGCAAGATTCTTA 0.423 NA C||| 1842 0.367812 0.1967 0.402 5008 , , NA 18793 0.751 NA 0.2396 False NA ,,, NA NA NA 2504 0.3119 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.44099408C>G NA hg19 0.02 4.299873 GTGxAAG COVERED NOVEL 0 0 3.8497 KEEP 0 1 38 26 938 CC 0.999988 0.999988 0 7 60 244 0 0 15.815907 127 60 4697 184 0.052239 1 CXCL12 6387 __UNKNOWN__ __UNKNOWN__ 10 44866208 44866208 __UNKNOWN__ 3'UTR SNP C C G rs266093 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:44866208C>G ENST00000374429.2 - 0 2936 CXCL12_ENST00000395795.4_Intron NM_000609.5|NM_001277990.1 NP_000600.1|NP_001264919.1 P48061 SDF1_HUMAN chemokine (C-X-C motif) ligand 12 NA NA adult locomotory behavior (GO:0008344)|ameboidal cell migration (GO:0001667)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cellular calcium ion homeostasis (GO:0006874)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|germ cell development (GO:0007281)|germ cell migration (GO:0008354)|immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|motor neuron axon guidance (GO:0008045)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative regulation of leukocyte tethering or rolling (GO:1903237)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|patterning of blood vessels (GO:0001569)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell adhesion (GO:0045785)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of T cell migration (GO:2000406)|regulation of actin polymerization or depolymerization (GO:0008064)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to peptide hormone (GO:0043434)|response to radiation (GO:0009314)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation (GO:0042098)|telencephalon cell migration (GO:0022029) external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) chemokine activity (GO:0008009)|chemokine receptor binding (GO:0042379)|CXCR chemokine receptor binding (GO:0045236)|receptor binding (GO:0005102) endometrium(1)|large_intestine(1)|lung(3)|skin(1) 6 Tinzaparin(DB06822) CCAAGCGGAACCTTTTTTCTC 0.522 NA C||| 3265 0.651957 0.3979 0.7781 5008 , , NA 19697 0.8165 NA 0.659 False NA ,,, NA NA NA 2504 0.729 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L36033 CCDS7207.1, CCDS31186.1, CCDS44373.1, CCDS53527.1, CCDS60518.1 10q11.1 2013-02-28 2010-05-11 2002-08-23 ENSG00000107562 ENSG00000107562 6387 Endogenous ligands 10672 protein-coding gene gene with protein product 600835 stromal cell-derived factor 1 SDF1A, SDF1B, SDF1 NA 7490086 Standard NM_000609 NM_001033886 NA Approved SCYB12, SDF-1a, SDF-1b, PBSF, TLSF-a, TLSF-b, TPAR1 uc021ppm.1 P48061 OTTHUMG00000018054 ENST00000374429.2:c.*2568G>C chr10.hg19:g.44866208C>G NA B2R4G0|E7EVL0|H7BYN8|Q2L985|Q2L986|Q2L988|Q5IT36|Q6ICW0|Q9H554 hg19 CCDS44373.1 0.02 9.935137 GAAxCTT COVERED NOVEL CXCL12-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000047738.2 2 6.690856 KEEP 0 2 59 43 1528 CC 1 1 0 - 9 60 356 0 0 23.82279 198 60 7188 311 ENST00000374429.2 0.043478 1 RASSF4 83937 __UNKNOWN__ __UNKNOWN__ 10 45488943 45488943 __UNKNOWN__ 3'UTR SNP C C G rs3814569 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:45488943C>G ENST00000340258.5 + 0 1245 RASSF4_ENST00000374417.2_3'UTR|RASSF4_ENST00000334940.6_3'UTR NM_032023.3 NP_114412.2 Q8WYP3 RIN2_HUMAN Ras association (RalGDS/AF-6) domain family member 4 NA NA endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264) cytoplasm (GO:0005737) GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083) NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 CCACAGCCAGCTCTTGGCTCC 0.617 NA C||| 419 0.0836661 0.0582 0.1326 5008 , , NA 21249 0.1954 NA 0.003 False NA ,,, NA NA NA 2504 0.0511 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC032593 CCDS7208.1 10q11.1 2008-02-22 2008-02-22 ENSG00000107551 ENSG00000107551 83937 20793 protein-coding gene gene with protein product 610559 NA Standard NM_032023 NM_032023 NA Approved AD037, MGC44914 uc001jbo.3 Q9H2L5 OTTHUMG00000018060 ENST00000340258.5:c.*166C>G chr10.hg19:g.45488943C>G NA Q00425|Q5TFT8|Q9BQL3|Q9H071 hg19 CCDS7208.1 0.02 12.982576 CAGxTCT COVERED NOVEL RASSF4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000047745.2 3 41.828801 KEEP 0 0 0 139 5110 CC 1 1 0 + 11 60 406 0 0 25.171823 302 60 11342 568 ENST00000340258.5 0.035144 1 ZNF22 7570 __UNKNOWN__ __UNKNOWN__ 10 45499974 45499974 __UNKNOWN__ 3'UTR SNP A A G rs11239310 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:45499974A>G ENST00000298299.3 + 0 1751 CEP164P1_ENST00000456938.2_RNA NM_006963.4 NP_008894.2 P17026 ZNF22_HUMAN zinc finger protein 22 NA NA odontogenesis (GO:0042476)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|zinc ion binding (GO:0008270) NS(1)|breast(2)|endometrium(1)|kidney(2)|lung(2) 8 Prostate(175;0.0352)|all_neural(218;0.202) GTTTTGTAGTATATTAACCAT 0.299 NA A||| 1453 0.290136 0.5204 0.2291 5008 , , NA 18151 0.3343 NA 0.0606 False NA ,,, NA NA NA 2504 0.2127 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC041139 CCDS7211.1 10q11 2013-01-08 2012-07-12 ENSG00000165512 ENSG00000165512 7570 Zinc fingers, C2H2-type 13012 protein-coding gene gene with protein product 194529 NA Standard NM_006963 NM_006963 NA Approved KOX15, HKR-T1, ZNF422, Zfp422 uc001jbw.3 P17026 OTTHUMG00000018064 ENST00000298299.3:c.*483A>G chr10.hg19:g.45499974A>G NA Q5T741|Q96FM4 hg19 CCDS7211.1 0.02 11.665996 AGTxTAT COVERED NOVEL ZNF22-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000047761.1 0 22.86729 KEEP 0 0 0 76 2347 AA 1 1 0 + 9 60 336 0 0 20.931421 250 70 9119 384 ENST00000298299.3 0.034749 1 RP11-38L15.3 0 __UNKNOWN__ __UNKNOWN__ 10 46952839 46952839 __UNKNOWN__ RNA SNP G G A rs138917182 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:46952839G>A ENST00000506914.1 + 0 312 RP11-38L15.3_ENST00000430188.1_RNA NA NA NA ggcattgggcgggtagcagtg 0.478 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000506914.1: chr10.hg19:g.46952839G>A NA hg19 0.02 9.660799 GGCxGGT COVERED NOVEL RP11-38L15.3-002 KNOWN basic|exp_conf antisense NA antisense OTTHUMT00000367006.1 1 3.121223 KEEP 51 6 196 79 2750 GG 1 1 0 + 18 27 678 0 0 50.035573 184 60 6432 429 ENST00000506914.1 0.089109 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 47395823 47395823 __UNKNOWN__ IGR SNP C C T rs140219017 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:47395823C>T NA NA RN7SL453P (13076 upstream) : RP11-292F22.5 (174689 downstream) NA NA NA CAGTTGTTTTCCTTCTGAAAG 0.388 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.47395823C>T NA hg19 0.02 -0.298297 TTTxCTT COVERED NOVEL 0 1 6.956152 KEEP 1 1 28 33 1140 CC 0.999998 0.781058 0 5 39 192 0 0 15.420137 29 60 1110 91 0.147059 0.78106 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 47395878 47395878 __UNKNOWN__ IGR SNP T T A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:47395878T>A NA NA RN7SL453P (13131 upstream) : RP11-292F22.5 (174634 downstream) NA NA NA GTGACTTTTCTGGGGGCATCG 0.562 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.47395878T>A NA hg19 0.02 -0.350902 TTCxGGG COVERED NOVEL 0 1 4.513785 KEEP 27 3 94 48 1485 TT 0.999999 0.877707 0 7 40 249 0 0 20.185194 33 50 1227 144 0.175 0.877708 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 47396713 47396713 __UNKNOWN__ IGR SNP T T C rs546985100 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:47396713T>C NA NA RN7SL453P (13966 upstream) : RP11-292F22.5 (173799 downstream) NA NA NA CGAAGGATGATTTTGGAGGCA 0.438 NA T||| 23 0.00459265 0.0 0.0014 5008 , , NA 15874 0.0159 NA 0.005 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.47396713T>C NA hg19 0.02 7.304104 TGAxTTT COVERED NOVEL 0 1 3.846182 KEEP 9 1 38 26 774 TT 0.999957 0.999957 0 10 27 401 0 0 27.907771 178 60 6524 248 0.053191 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 47416908 47416908 __UNKNOWN__ IGR SNP A A G rs3127728 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:47416908A>G NA NA RN7SL453P (34161 upstream) : RP11-292F22.5 (153604 downstream) NA NA NA GTTTACATCCATGTAGAATCA 0.373 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.47416908A>G NA hg19 0.02 38.07219 TCCxTGT COVERED NOVEL 0 6 28.122055 KEEP 1 4 145 144 4457 AA 1 1 0 28 60 1064 0 0 65.904458 851 60 31892 1216 0.031854 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 49239391 49239391 __UNKNOWN__ IGR SNP T T C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:49239391T>C NA NA FAM25C (31573 upstream) : RNA5SP315 (9084 downstream) NA NA NA ATCACCTCCTTACCTTCAGGC 0.572 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.49239391T>C NA hg19 0.02 2.517035 CCTxACC UNCOVERED NOVEL 0 0 2.40702 KEEP 36 0 0 8 241 TT 0 0 0 12 24 461 0 0 38.324201 53 48 1881 124 0.184615 0.993703 ARHGAP22 58504 __UNKNOWN__ __UNKNOWN__ 10 49790972 49790972 __UNKNOWN__ Intron SNP C C T rs2289808 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:49790972C>T ENST00000435790.2 - 2 583 ARHGAP22_ENST00000491108.1_Intron|ARHGAP22_ENST00000249601.4_Intron|ARHGAP22_ENST00000417912.2_Intron NM_001256025.2 NP_001242954.1 Q7Z5H3 RHG22_HUMAN Rho GTPase activating protein 22 NA NA angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351) cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634) GTPase activator activity (GO:0005096) endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 ACGATGCCCACGGCACACCGG 0.567 NA C||| 2111 0.421526 0.2216 0.451 5008 , , NA 21624 0.7272 NA 0.2773 False NA ,,, NA NA NA 2504 0.5041 NA NA NA NA 0 C 1090,3316 396.0+/-329.9 136,818,1249 70 61 64 -4.7 0 10 dbSNP_100 64 2300,6300 386.6+/-341.9 304,1692,2304 no intron ARHGAP22 NM_021226.2 440,2510,3553 TT,TC,CC 26.7442,24.739,26.0649 49790972 3390,9616 2203 4300 6503 SO:0001627 intron_variant AY324801 CCDS7227.1, CCDS58079.1, CCDS58080.1, CCDS58081.1 10q11.23 2013-01-10 ENSG00000128805 ENSG00000128805 58504 Rho GTPase activating proteins, Pleckstrin homology (PH) domain containing 30320 protein-coding gene gene with protein product 610585 NA 8619474 Standard NM_021226 NM_021226 NA Approved RhoGAP2 uc010qgm.3 Q7Z5H3 OTTHUMG00000018176 ENST00000435790.2:c.252+25G>A chr10.hg19:g.49790972C>T NA A0AVP7|A5YM75|B4DED8|B9EGA0|C9JDM2|O00152|Q6ZSB0 hg19 CCDS58081.1 0.02 4.384296 CCAxGGC COVERED NOVEL ARHGAP22-004 PUTATIVE basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000358761.2 0 7.524412 KEEP 0 0 0 25 871 CC 0.999931 0.999926 0 - 6 60 216 0 0 14.284519 107 60 3831 163 ENST00000435790.2 0.053097 0.999995 WDFY4 57705 __UNKNOWN__ __UNKNOWN__ 10 49939077 49939077 __UNKNOWN__ Intron SNP T T A rs2377628 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:49939077T>A ENST00000360890.2 + 9 1272 WDFY4_ENST00000413659.2_Intron|WDFY4_ENST00000325239.5_Intron Q6ZS81 WDFY4_HUMAN WDFY family member 4 NA NA integral component of membrane (GO:0016021) NS(2)|breast(5)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(3)|pancreas(2)|prostate(5)|skin(6)|stomach(1) 48 TGGCATGCCCTCTTAGTAATG 0.438 NA T||| 1960 0.391374 0.2882 0.3372 5008 , , NA 20207 0.4038 NA 0.4682 False NA ,,, NA NA NA 2504 0.4775 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK074085 CCDS44385.1 10q11.23 2013-01-10 ENSG00000128815 ENSG00000128815 57705 WD repeat domain containing 29323 protein-coding gene gene with protein product 613316 chromosome 10 open reading frame 64 C10orf64 NA 10997877 Standard XM_033379 NM_020945 NA Approved KIAA1607, Em:AC060234.3, FLJ45748 uc001jha.4 Q6ZS81 OTTHUMG00000018180 ENST00000360890.2:c.1130-78T>A chr10.hg19:g.49939077T>A NA B9ZVP2|Q86WZ4|Q8N4A3|Q8TEN7|Q96BE1|Q9H7H8|Q9HCG5 hg19 0.02 6.330691 CCCxCTT COVERED NOVEL WDFY4-008 KNOWN basic protein_coding NA protein_coding OTTHUMT00000047942.1 0 3.910961 KEEP 0 0 0 13 392 TT 0.994391 0.994391 0 + 7 60 255 0 0 16.518826 145 60 5354 183 ENST00000360890.2 0.046053 1 WDFY4 57705 __UNKNOWN__ __UNKNOWN__ 10 49939139 49939139 __UNKNOWN__ Intron SNP T T A rs1993986 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:49939139T>A ENST00000360890.2 + 9 1272 WDFY4_ENST00000413659.2_Intron|WDFY4_ENST00000325239.5_Intron Q6ZS81 WDFY4_HUMAN WDFY family member 4 NA NA integral component of membrane (GO:0016021) NS(2)|breast(5)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(3)|pancreas(2)|prostate(5)|skin(6)|stomach(1) 48 AAGATCATTCTTGTTTTCCTC 0.418 NA T||| 2357 0.470647 0.5764 0.3588 5008 , , NA 20726 0.4038 NA 0.4692 False NA ,,, NA NA NA 2504 0.4775 NA NA NA NA 0 T 747,637 198,351,143 61 49 53 -2.4 0 10 dbSNP_92 53 1464,1718 348,768,475 no intron WDFY4 NM_020945.1 546,1119,618 AA,AT,TT 46.0088,46.026,48.4231 49939139 2211,2355 692 1591 2283 SO:0001627 intron_variant AK074085 CCDS44385.1 10q11.23 2013-01-10 ENSG00000128815 ENSG00000128815 57705 WD repeat domain containing 29323 protein-coding gene gene with protein product 613316 chromosome 10 open reading frame 64 C10orf64 NA 10997877 Standard XM_033379 NM_020945 NA Approved KIAA1607, Em:AC060234.3, FLJ45748 uc001jha.4 Q6ZS81 OTTHUMG00000018180 ENST00000360890.2:c.1130-16T>A chr10.hg19:g.49939139T>A NA B9ZVP2|Q86WZ4|Q8N4A3|Q8TEN7|Q96BE1|Q9H7H8|Q9HCG5 hg19 0.02 11.114232 TTCxTGT COVERED NOVEL WDFY4-008 KNOWN basic protein_coding NA protein_coding OTTHUMT00000047942.1 0 9.027185 KEEP 0 0 0 30 953 TT 0.999997 0.999997 0 + 13 60 486 0 0 32.283593 252 60 9398 355 ENST00000360890.2 0.049057 1 WDFY4 57705 __UNKNOWN__ __UNKNOWN__ 10 49944249 49944249 __UNKNOWN__ 3'UTR SNP C C T rs4838645 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:49944249C>T ENST00000360890.2 + 0 2155 WDFY4_ENST00000413659.2_Intron|WDFY4_ENST00000325239.5_Intron Q6ZS81 WDFY4_HUMAN WDFY family member 4 NA NA integral component of membrane (GO:0016021) NS(2)|breast(5)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(3)|pancreas(2)|prostate(5)|skin(6)|stomach(1) 48 tattaggtagcgtcaggtgct 0.423 NA T||| 2374 0.474042 0.593 0.3559 5008 , , NA 23392 0.4028 NA 0.4712 False NA ,,, NA NA NA 2504 0.4734 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK074085 CCDS44385.1 10q11.23 2013-01-10 ENSG00000128815 ENSG00000128815 57705 WD repeat domain containing 29323 protein-coding gene gene with protein product 613316 chromosome 10 open reading frame 64 C10orf64 NA 10997877 Standard XM_033379 NM_020945 NA Approved KIAA1607, Em:AC060234.3, FLJ45748 uc001jha.4 Q6ZS81 OTTHUMG00000018180 ENST00000360890.2:c.*47C>T chr10.hg19:g.49944249C>T NA B9ZVP2|Q86WZ4|Q8N4A3|Q8TEN7|Q96BE1|Q9H7H8|Q9HCG5 hg19 0.02 18.002979 TAGxGTC COVERED NOVEL WDFY4-008 KNOWN basic protein_coding NA protein_coding OTTHUMT00000047942.1 0 7.824905 KEEP 0 0 0 26 885 CC 0.999957 0.999957 0 + 20 60 734 0 0 48.002738 402 60 13711 522 ENST00000360890.2 0.047393 1 WDFY4 57705 __UNKNOWN__ __UNKNOWN__ 10 49944268 49944268 __UNKNOWN__ 3'UTR SNP T T G rs41282001 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:49944268T>G ENST00000360890.2 + 0 2174 WDFY4_ENST00000413659.2_Intron|WDFY4_ENST00000325239.5_Intron Q6ZS81 WDFY4_HUMAN WDFY family member 4 NA NA integral component of membrane (GO:0016021) NS(2)|breast(5)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(3)|pancreas(2)|prostate(5)|skin(6)|stomach(1) 48 ctgtaacaaataaatcccata 0.418 NA T||| 806 0.160942 0.0083 0.0735 5008 , , NA 22882 0.4028 NA 0.0885 False NA ,,, NA NA NA 2504 0.2546 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK074085 CCDS44385.1 10q11.23 2013-01-10 ENSG00000128815 ENSG00000128815 57705 WD repeat domain containing 29323 protein-coding gene gene with protein product 613316 chromosome 10 open reading frame 64 C10orf64 NA 10997877 Standard XM_033379 NM_020945 NA Approved KIAA1607, Em:AC060234.3, FLJ45748 uc001jha.4 Q6ZS81 OTTHUMG00000018180 ENST00000360890.2:c.*66T>G chr10.hg19:g.49944268T>G NA B9ZVP2|Q86WZ4|Q8N4A3|Q8TEN7|Q96BE1|Q9H7H8|Q9HCG5 hg19 0.02 14.225521 AAAxAAA COVERED NOVEL WDFY4-008 KNOWN basic protein_coding NA protein_coding OTTHUMT00000047942.1 0 6.921152 KEEP 0 0 0 23 732 TT 0.999892 0.999892 0 + 18 60 690 0 0 46.972211 324 60 11645 431 ENST00000360890.2 0.052632 1 VSTM4 196740 __UNKNOWN__ __UNKNOWN__ 10 50315893 50315893 __UNKNOWN__ Missense_Mutation SNP A A G rs13088 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:50315893A>G ENST00000332853.4 - 2 226 c.203T>C c.(202-204)tTc>tCc p.F68S VSTM4_ENST00000298454.3_Missense_Mutation_p.F68S NM_001031746.3 NP_001026916.2 Q8IW00 VSTM4_HUMAN V-set and transmembrane domain containing 4 68 Ig-like. NA F -> S (in dbSNP:rs13088). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}. integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2) 31 CTGGGAGTCGAAGGAGTGTGC 0.607 NA G||| 2485 0.496206 0.7753 0.4827 5008 , , NA 19434 0.2401 NA 0.3907 False NA ,,, NA NA NA 2504 0.501 NA NA NA NA 0 G SER/PHE,SER/PHE 3121,1285 438.0+/-345.2 1116,889,198 61 61 61 203,203 1.8 0 10 dbSNP_52 61 3376,5224 640.7+/-399.6 676,2024,1600 yes missense,missense VSTM4 NM_001031746.3,NM_144984.2 155,155 1792,2913,1798 GG,GA,AA 39.2558,29.1648,49.9539 benign,benign 68/321,68/192 50315893 6497,6509 2203 4300 6503 SO:0001583 missense BC041414 CCDS7228.1, CCDS31198.1 10q11.23 2013-01-11 2011-07-01 2011-07-01 ENSG00000165633 ENSG00000165633 196740 Immunoglobulin superfamily / V-set domain containing 26470 protein-coding gene gene with protein product chromosome 10 open reading frame 72 C10orf72 NA Standard NM_144984 XR_246075 NA Approved FLJ31737 uc001jhf.2 Q8IW00 OTTHUMG00000018184 ENST00000332853.4:c.203T>C chr10.hg19:g.50315893A>G ENSP00000331062:p.Phe68Ser NA B4DNI6|Q96MX7 hg19 CCDS31198.1 0.02 12.383114 TCGxAGG COVERED 954 0.4368131868131868 374 0.7601626016260162 170 0.4696132596685083 121 0.21153846153846154 289 0.3812664907651715 G 0.006 -2.068113 0.00382 0.708352 0.392558 ENSG00000165633 ENST00000332853;ENST00000298454 T;T 0.62941 -0.01;-0.01 1.75 1.75 0.24633 . 0.284997 0.21139 N 0.079509 T 0.00012 0.0000 N 0.08118 0 0.80722 P 0.0 B;B 0.02656 0.0;0.0 B;B 0.04013 0.001;0.0 T 0.46414 -0.9193 9 0.02654 T 1 . 4.4037 0.11399 0.2404:0.0:0.7596:0.0 rs13088;rs1137471;rs3201257;rs17857253;rs52807236;rs61590125;rs13088 68;68 Q8IW00-2;Q8IW00 .;VSTM4_HUMAN S 68 ENSP00000331062:F68S;ENSP00000298454:F68S ENSP00000298454:F68S F - 2 0 VSTM4 49985899 0.001000 0.12720 0.001000 0.08648 0.046000 0.14306 -0.111000 0.10807 -0.651000 0.05415 -0.642000 0.03964 TTC NOVEL VSTM4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000047966.2 0 35.502368 KEEP 0 0 0 118 3649 AA 1 1 0 - 11 60 423 0 0 27.828782 246 60 8900 509 ENST00000332853.4 0.042802 1 FAM170B 170370 __UNKNOWN__ __UNKNOWN__ 10 50340304 50340304 __UNKNOWN__ Missense_Mutation SNP C C A rs17773851 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:50340304C>A ENST00000311787.5 - 2 295 c.206G>T c.(205-207)cGg>cTg p.R69L FAM170B-AS1_ENST00000443389.1_RNA|FAM170B-AS1_ENST00000442525.1_RNA|FAM170B-AS1_ENST00000435809.1_RNA NM_001164484.1 NP_001157956.1 A6NMN3 F170B_HUMAN family with sequence similarity 170, member B 69 NA R -> L (in dbSNP:rs17773851). central_nervous_system(1)|endometrium(1)|skin(1) 3 GCTCCAGTCCCGCATCCCCCG 0.632 NA A||| 1228 0.245208 0.118 0.3444 5008 , , NA 17030 0.3075 NA 0.2684 False NA ,,, NA NA NA 2504 0.2587 NA NA NA NA 0 A LEU/ARG 223,1161 20,183,489 38 43 42 206 3.9 1 10 dbSNP_123 42 922,2260 148,626,817 yes missense FAM170B NM_001164484.1 102 168,809,1306 AA,AC,CC 28.9755,16.1127,25.0767 benign 69/284 50340304 1145,3421 692 1591 2283 SO:0001583 missense CCDS53536.1 10q11.23 2008-11-06 2008-06-12 2008-06-12 ENSG00000172538 ENSG00000172538 170370 19736 protein-coding gene gene with protein product chromosome 10 open reading frame 73 C10orf73 NA Standard XM_096317 NM_001164484 NA Approved Em:AC084727.4 uc001jhj.3 A6NMN3 OTTHUMG00000018187 ENST00000311787.5:c.206G>T chr10.hg19:g.50340304C>A ENSP00000308292:p.Arg69Leu NA Q86WY6|Q8N6K8 hg19 CCDS53536.1 0.02 8.517071 TCCxGCA COVERED 527 0.2413003663003663 61 0.12398373983739837 117 0.32320441988950277 148 0.25874125874125875 201 0.26517150395778366 A 0.262 -0.998912 0.02128 0.161127 0.289755 ENSG00000172538 ENST00000311787 T 0.27557 1.66 5.12 3.93 0.45458 . 0.372809 0.19801 N 0.105742 T 0.00012 0.0000 N 0.00237 -1.79 0.48830 P 2.889999999999837E-4 B 0.02656 0.0 B 0.01281 0.0 T 0.41520 -0.9504 9 0.16896 T 0.51 -16.088 5.9475 0.19227 0.6642:0.1716:0.0:0.1642 rs17773851;rs52836194;rs17773851 69 A6NMN3 F170B_HUMAN L 69 ENSP00000308292:R69L ENSP00000308292:R69L R - 2 0 FAM170B 50010310 0.838000 0.29461 0.986000 0.45419 0.043000 0.13939 1.760000 0.38430 0.970000 0.38263 -0.262000 0.10625 CGG NOVEL FAM170B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000047974.1 1 11.436315 KEEP 0 0 0 38 1289 CC 1 1 0 - 7 60 257 0 0 15.412937 225 60 7699 327 ENST00000311787.5 0.030172 1 C10orf128 170371 __UNKNOWN__ __UNKNOWN__ 10 50369372 50369372 __UNKNOWN__ Intron SNP A A T rs2725181 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:50369372A>T ENST00000474718.1 - 5 316 C10orf128_ENST00000374148.1_3'UTR|C10orf128_ENST00000374153.2_Intron|C10orf128_ENST00000374151.3_Intron NM_001010863.1 NP_001010863.1 Q5T292 CJ128_HUMAN chromosome 10 open reading frame 128 NA NA integral component of membrane (GO:0016021) breast(1)|large_intestine(1)|lung(1) 3 AATGAAAAAAAGTTTACCTAT 0.368 NA A||| 1218 0.243211 0.1135 0.3386 5008 , , NA 22949 0.3105 NA 0.2684 False NA ,,, NA NA NA 2504 0.2556 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC031641 CCDS41519.1, CCDS73128.1 10q11.23 2012-06-13 ENSG00000204161 ENSG00000204161 170371 27274 protein-coding gene gene with protein product NA 12477932 Standard NM_001010863 NM_001010863 NA Approved Em:AC084727.5 uc001jhn.4 Q5T292 OTTHUMG00000018188 ENST00000474718.1:c.293+271T>A chr10.hg19:g.50369372A>T NA A6XND2|Q5T289|Q5T291 hg19 CCDS41519.1 0.02 11.075715 AAAxGTT COVERED NOVEL C10orf128-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000047978.1 1 6.920974 KEEP 0 0 0 23 733 AA 0.999892 0.999892 0 - 13 60 482 0 0 32.061683 244 60 8824 313 ENST00000474718.1 0.050584 1 C10orf71 118461 __UNKNOWN__ __UNKNOWN__ 10 50534862 50534862 __UNKNOWN__ Silent SNP T T C rs12411843 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:50534862T>C ENST00000374144.3 + 3 4560 c.4272T>C c.(4270-4272)gaT>gaC p.D1424D C10orf71_ENST00000323868.4_Intron Q711Q0 CJ071_HUMAN chromosome 10 open reading frame 71 1424 NA endometrium(1) 1 TCTCCACTGATGACCTAGAGG 0.602 NA C||| 1521 0.303714 0.1316 0.3818 5008 , , NA 14631 0.4127 NA 0.333 False NA ,,, NA NA NA 2504 0.3384 NA NA NA NA 0 C , 239,1145 19,201,472 29 33 32 4272, -6.5 0 10 dbSNP_120 32 1018,2164 162,694,735 no coding-synonymous,intron C10orf71 NM_001135196.1,NM_199459.3 , 181,895,1207 CC,CT,TT 31.9925,17.2688,27.5296 , 1424/1436, 50534862 1257,3309 692 1591 2283 SO:0001819 synonymous_variant AL833265 CCDS44387.1 10q11.23 2012-05-31 ENSG00000177354 ENSG00000177354 118461 26973 protein-coding gene gene with protein product NA Standard NM_199459 NM_001135196 NA Approved FLJ45913 uc021pqa.2 Q711Q0 OTTHUMG00000018190 ENST00000374144.3:c.4272T>C chr10.hg19:g.50534862T>C NA A0AVL8 hg19 CCDS44387.1 0.02 10.561568 TGAxGAC COVERED NOVEL C10orf71-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000047984.2 12 6.240158 KEEP 0 1 38 34 991 TT 0.999999 0.999999 0 + 9 60 332 0 0 20.043456 284 60 10410 427 ENST00000374144.3 0.030717 1 ERCC6 2074 __UNKNOWN__ __UNKNOWN__ 10 50732280 50732280 __UNKNOWN__ Missense_Mutation SNP C C T rs2228528 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:50732280C>T ENST00000355832.5 - 5 1274 c.1196G>A c.(1195-1197)gGt>gAt p.G399D ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.G399D|PGBD3_ENST00000603152.1_Missense_Mutation_p.G399D|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.G399D NM_000124.2 NP_000115.1 Q03468 ERCC6_HUMAN excision repair cross-complementation group 6 399 NA G -> D (in dbSNP:rs2228528). {ECO:0000269|PubMed:9443879, ECO:0000269|Ref.3}. activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283) nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023) ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296) breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 ATAGTCAGTACCATCTCCAGA 0.547 NA Direct reversal of damage;Nucleotide excision repair (NER) C||| 1191 0.237819 0.1793 0.2378 5008 , , NA 17237 0.4911 NA 0.1581 False NA ,,, NA NA NA 2504 0.138 NA NA NA NA 0 C ASP/GLY, 729,3677 302.1+/-287.2 62,605,1536 72 70 70 1196, -3.8 0 10 dbSNP_98 70 1382,7218 268.2+/-287.7 112,1158,3030 yes missense,utr-5 ERCC6,PGBD3 NM_000124.2,NM_170753.2 94, 174,1763,4566 TT,TC,CC 16.0698,16.5456,16.231 benign, 399/1494, 50732280 2111,10895 2203 4300 6503 SO:0001583 missense L04791 CCDS7229.1 10q11 2014-09-17 2014-03-07 ENSG00000225830 ENSG00000225830 2074 3438 protein-coding gene gene with protein product Cockayne syndrome B protein 609413 excision repair cross-complementing rodent repair deficiency, complementation group 6 CKN2 NA 1339317, 19179336 Standard NM_000124 NM_000124 NA Approved CSB, RAD26, ARMD5 uc001jhs.5 Q03468 OTTHUMG00000018195 ENST00000355832.5:c.1196G>A chr10.hg19:g.50732280C>T ENSP00000348089:p.Gly399Asp NA D3DX94|Q5W0L9 hg19 CCDS7229.1 0.02 13.282095 GTAxCAT COVERED 553 0.2532051282051282 83 0.16869918699186992 75 0.20718232044198895 276 0.4825174825174825 119 0.15699208443271767 C 7.256 0.604123 0.14002 0.165456 0.160698 ENSG00000225830;ENSG00000258838;ENSG00000258838 ENST00000355832;ENST00000515869;ENST00000447839 D;T;T 0.81579 -1.51;3.62;3.62 5.93 -3.85 0.04243 . . . . . T 0.00012 0.0000 N 0.11427 0.14 0.54753 P 1.8999999999991246E-5 B;B 0.06786 0.001;0.001 B;B 0.06405 0.002;0.001 T 0.18967 -1.0320 8 0.06757 T 0.87 -1.3641 9.5029 0.39028 0.0:0.26:0.1064:0.6336 rs2228528;rs3829171;rs61043658;rs2228528 399;399 E7EV46;Q03468 .;ERCC6_HUMAN D 399 ENSP00000348089:G399D;ENSP00000423550:G399D;ENSP00000387966:G399D ENSP00000348089:G399D G - 2 0 ERCC6;RP11-123B3.6 50402286 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 0.130000 0.15850 -0.609000 0.05724 -0.140000 0.14226 GGT NOVEL ERCC6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000047990.1 2 16.019271 KEEP 0 2 62 75 2582 CC 1 1 0 - 9 60 334 0 0 19.982305 304 60 11164 470 ENST00000355832.5 0.028754 1 ERCC6 2074 __UNKNOWN__ __UNKNOWN__ 10 50736328 50736328 __UNKNOWN__ Intron SNP A A T rs4253040 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:50736328A>T ENST00000355832.5 - 4 731 ERCC6-PGBD3_ENST00000515869.1_Intron|PGBD3_ENST00000603152.1_Intron|ERCC6-PGBD3_ENST00000447839.2_Intron NM_000124.2 NP_000115.1 Q03468 ERCC6_HUMAN excision repair cross-complementation group 6 NA NA activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283) nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023) ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296) breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 AATTTTCCTAAATCTGTTTTG 0.388 NA Direct reversal of damage;Nucleotide excision repair (NER) A||| 879 0.175519 0.1188 0.2089 5008 , , NA 18103 0.4087 NA 0.0666 False NA ,,, NA NA NA 2504 0.1002 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L04791 CCDS7229.1 10q11 2014-09-17 2014-03-07 ENSG00000225830 ENSG00000225830 2074 3438 protein-coding gene gene with protein product Cockayne syndrome B protein 609413 excision repair cross-complementing rodent repair deficiency, complementation group 6 CKN2 NA 1339317, 19179336 Standard NM_000124 NM_000124 NA Approved CSB, RAD26, ARMD5 uc001jhs.5 Q03468 OTTHUMG00000018195 ENST00000355832.5:c.652+134T>A chr10.hg19:g.50736328A>T NA D3DX94|Q5W0L9 hg19 CCDS7229.1 0.02 6.314995 CTAxATC COVERED NOVEL ERCC6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000047990.1 1 3.479455 KEEP 0 2 61 33 1090 AA 0.999999 0.999999 0 - 8 60 286 0 0 18.06168 180 60 6412 245 ENST00000355832.5 0.042553 1 ERCC6 2074 __UNKNOWN__ __UNKNOWN__ 10 50740600 50740600 __UNKNOWN__ Silent SNP C C T rs4253013 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:50740600C>T ENST00000355832.5 - 2 489 c.411G>A c.(409-411)ctG>ctA p.L137L ERCC6-PGBD3_ENST00000515869.1_Silent_p.L137L|PGBD3_ENST00000603152.1_Silent_p.L137L|ERCC6-PGBD3_ENST00000447839.2_Silent_p.L137L NM_000124.2 NP_000115.1 Q03468 ERCC6_HUMAN excision repair cross-complementation group 6 137 NA activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283) nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023) ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296) breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 TGAGGTCATCCAGGACCGACC 0.522 NA Direct reversal of damage;Nucleotide excision repair (NER) C||| 880 0.175719 0.118 0.2089 5008 , , NA 23800 0.4107 NA 0.0666 False NA ,,, NA NA NA 2504 0.1002 NA NA NA NA 0 C 473,3933 222.6+/-239.4 29,415,1759 116 92 100 411 3.7 1 10 dbSNP_111 100 552,8048 151.0+/-205.8 16,520,3764 no coding-synonymous ERCC6 NM_000124.2 45,935,5523 TT,TC,CC 6.4186,10.7354,7.881 137/1494 50740600 1025,11981 2203 4300 6503 SO:0001819 synonymous_variant L04791 CCDS7229.1 10q11 2014-09-17 2014-03-07 ENSG00000225830 ENSG00000225830 2074 3438 protein-coding gene gene with protein product Cockayne syndrome B protein 609413 excision repair cross-complementing rodent repair deficiency, complementation group 6 CKN2 NA 1339317, 19179336 Standard NM_000124 NM_000124 NA Approved CSB, RAD26, ARMD5 uc001jhs.5 Q03468 OTTHUMG00000018195 ENST00000355832.5:c.411G>A chr10.hg19:g.50740600C>T NA D3DX94|Q5W0L9 hg19 CCDS7229.1 0.02 6.185197 ATCxAGG COVERED NOVEL ERCC6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000047990.1 1 8.562736 KEEP 0 1 33 40 1373 CC 1 1 0 - 7 60 258 0 0 16.294276 173 60 6203 258 ENST00000355832.5 0.038889 1 CHAT 1103 __UNKNOWN__ __UNKNOWN__ 10 50824244 50824244 __UNKNOWN__ Intron SNP C C A rs11101182 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:50824244C>A ENST00000337653.2 + 2 439 CHAT_ENST00000395562.2_Intron|CHAT_ENST00000455728.2_Intron|CHAT_ENST00000460699.1_Intron|CHAT_ENST00000395559.2_Intron|CHAT_ENST00000351556.3_Intron|CHAT_ENST00000339797.1_Intron NM_001142929.1|NM_020549.4 NP_001136401.1|NP_065574 P28329 CLAT_HUMAN choline O-acetyltransferase NA NA adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268) axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634) choline O-acetyltransferase activity (GO:0004102) central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1) 56 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122)|Nicotine(DB00184) CTGCCAGCAACCCCTGGTGGA 0.517 NA C||| 416 0.0830671 0.1104 0.0764 5008 , , NA 19685 0.0685 NA 0.1243 False NA ,,, NA NA NA 2504 0.0235 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF305907 CCDS7232.1, CCDS7233.1, CCDS44389.1 10q11.2 2010-05-11 2010-05-11 ENSG00000070748 ENSG00000070748 1103 2.3.1.6 1912 protein-coding gene gene with protein product 118490 choline acetyltransferase NA 1840566 Standard NM_020549 NM_020984 NA Approved uc001jhz.2 P28329 OTTHUMG00000018198 ENST00000337653.2:c.287-304C>A chr10.hg19:g.50824244C>A NA A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1 hg19 CCDS7232.1 0.02 4.161668 CAAxCCC COVERED NOVEL CHAT-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000047997.1 3 3.912905 KEEP 0 0 0 13 471 CC 0.994391 0.99439 0 + 7 60 249 0 0 16.479011 120 60 4340 158 ENST00000337653.2 0.055118 1 C10orf53 282966 __UNKNOWN__ __UNKNOWN__ 10 50916542 50916542 __UNKNOWN__ Missense_Mutation SNP C C T rs4838554 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:50916542C>T ENST00000374112.3 + 3 365 c.353C>T c.(352-354)aCt>aTt p.T118I C10orf53_ENST00000535836.1_Missense_Mutation_p.T118I NM_182554.2 NP_872360.2 Q8N6V4 CJ053_HUMAN chromosome 10 open reading frame 53 0 NA endometrium(1)|lung(6) 7 all_neural(218;0.107) ctgacttgtactgtattggcc 0.488 NA T||| 1958 0.390974 0.4365 0.4611 5008 , , NA 20401 0.1548 NA 0.495 False NA ,,, NA NA NA 2504 0.4162 NA NA NA NA 0 T ILE/THR 1995,2411 616.3+/-392.7 454,1087,662 167 162 163 353 -0.5 0 10 dbSNP_111 163 4151,4449 588.1+/-392.3 978,2195,1127 yes missense C10orf53 NM_182554.2 89 1432,3282,1789 TT,TC,CC 48.2674,45.2792,47.2551 benign 118/158 50916542 6146,6860 2203 4300 6503 SO:0001583 missense BC028127 CCDS31202.1, CCDS41521.1 10q11.23 2012-05-24 ENSG00000178645 ENSG00000178645 282966 27421 protein-coding gene gene with protein product NA 12477932 Standard NM_182554 NM_182554 NA Approved Em:AC069546.1 uc001jid.1 Q8N6V4 OTTHUMG00000018199 ENST00000374112.3:c.353C>T chr10.hg19:g.50916542C>T ENSP00000363226:p.Thr118Ile NA A6NI81|A6NLE0|B9ZVK6 hg19 CCDS31202.1 0.02 14.958359 GTAxTGT COVERED 834 0.38186813186813184 221 0.4491869918699187 152 0.4198895027624309 80 0.13986013986013987 381 0.5026385224274407 T 0.003 -2.454822 0.00173 0.452792 0.482674 ENSG00000178645 ENST00000374112;ENST00000535836 . . . 0.818 -0.507 0.11985 . . . . . T 0.00012 0.0000 N 0.08118 0 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.46775 -0.9167 7 0.12103 T 0.63 . 4.4657 0.11687 0.0:0.5365:0.0:0.4635 rs4838554;rs17856787;rs52809141;rs59677133;rs4838554 118 B9ZVK6 . I 118 . ENSP00000363226:T118I T + 2 0 C10orf53 50586548 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -0.916000 0.04029 -0.926000 0.03770 -1.140000 0.01884 ACT NOVEL C10orf53-003 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000048006.1 0 7.223546 KEEP 0 0 0 24 851 CC 0.999909 0.999909 0 + 12 60 437 0 0 26.604448 347 60 12966 435 ENST00000374112.3 0.033426 1 C10orf53 282966 __UNKNOWN__ __UNKNOWN__ 10 50917390 50917390 __UNKNOWN__ 3'UTR SNP G G A rs10857535 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:50917390G>A ENST00000374112.3 + 0 1213 C10orf53_ENST00000535836.1_3'UTR NM_182554.2 NP_872360.2 Q8N6V4 CJ053_HUMAN chromosome 10 open reading frame 53 NA NA endometrium(1)|lung(6) 7 all_neural(218;0.107) tgccagctacgacatccagca 0.552 NA g||| 1508 0.301118 0.121 0.4193 5008 , , NA 20311 0.1548 NA 0.492 False NA ,,, NA NA NA 2504 0.4151 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC028127 CCDS31202.1, CCDS41521.1 10q11.23 2012-05-24 ENSG00000178645 ENSG00000178645 282966 27421 protein-coding gene gene with protein product NA 12477932 Standard NM_182554 NM_182554 NA Approved Em:AC069546.1 uc001jid.1 Q8N6V4 OTTHUMG00000018199 ENST00000374112.3:c.*727G>A chr10.hg19:g.50917390G>A NA A6NI81|A6NLE0|B9ZVK6 hg19 CCDS31202.1 0.02 18.661742 TACxACA COVERED NOVEL C10orf53-003 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000048006.1 0 9.929961 KEEP 0 0 0 33 1085 GG 0.999998 0.999998 0 + 16 60 555 1 0 33.020118 443 60 15423 580 ENST00000374112.3 0.034858 1 C10orf53 282966 __UNKNOWN__ __UNKNOWN__ 10 50917725 50917725 __UNKNOWN__ 3'UTR SNP C C T rs4838555 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:50917725C>T ENST00000374112.3 + 0 1548 C10orf53_ENST00000535836.1_3'UTR NM_182554.2 NP_872360.2 Q8N6V4 CJ053_HUMAN chromosome 10 open reading frame 53 NA NA endometrium(1)|lung(6) 7 all_neural(218;0.107) AGACCCTTTACGATCTGAGCC 0.512 NA T||| 1897 0.378794 0.3949 0.4524 5008 , , NA 19182 0.1548 NA 0.492 False NA ,,, NA NA NA 2504 0.4192 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC028127 CCDS31202.1, CCDS41521.1 10q11.23 2012-05-24 ENSG00000178645 ENSG00000178645 282966 27421 protein-coding gene gene with protein product NA 12477932 Standard NM_182554 NM_182554 NA Approved Em:AC069546.1 uc001jid.1 Q8N6V4 OTTHUMG00000018199 ENST00000374112.3:c.*1062C>T chr10.hg19:g.50917725C>T NA A6NI81|A6NLE0|B9ZVK6 hg19 CCDS31202.1 0.02 8.824534 TTAxGAT COVERED NOVEL C10orf53-003 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000048006.1 1 7.523285 KEEP 0 0 0 25 823 CC 0.999931 0.999931 0 + 10 60 377 0 0 24.612588 220 60 7686 299 ENST00000374112.3 0.043478 1 C10orf53 282966 __UNKNOWN__ __UNKNOWN__ 10 50918047 50918047 __UNKNOWN__ 3'UTR SNP C C G rs4838556|rs569440434|rs71471352|rs61849398 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:50918047C>G ENST00000374112.3 + 0 1870 C10orf53_ENST00000535836.1_Intron NM_182554.2 NP_872360.2 Q8N6V4 CJ053_HUMAN chromosome 10 open reading frame 53 NA NA endometrium(1)|lung(6) 7 all_neural(218;0.107) gtgtgtgtgtctgtgtgtgtg 0.542 NA N||| 2200 0.439297 0.4781 0.4986 5008 , , NA 13386 0.245 NA 0.5328 False NA ,,, NA NA NA 2504 0.4489 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC028127 CCDS31202.1, CCDS41521.1 10q11.23 2012-05-24 ENSG00000178645 ENSG00000178645 282966 27421 protein-coding gene gene with protein product NA 12477932 Standard NM_182554 NM_182554 NA Approved Em:AC069546.1 uc001jid.1 Q8N6V4 OTTHUMG00000018199 ENST00000374112.3:c.*1384C>G chr10.hg19:g.50918047C>G NA A6NI81|A6NLE0|B9ZVK6 hg19 CCDS31202.1 0.02 4.606896 TGTxTGT UNCOVERED NOVEL C10orf53-003 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000048006.1 1 2.407165 KEEP 1 0 0 8 261 CC 0 0 0 + 7 60 203 0 0 12.207631 113 60 3782 136 ENST00000374112.3 0.058333 0.999999 C10orf53 282966 __UNKNOWN__ __UNKNOWN__ 10 50918262 50918262 __UNKNOWN__ 3'UTR SNP G G A rs7092087 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:50918262G>A ENST00000374112.3 + 0 2085 C10orf53_ENST00000535836.1_3'UTR NM_182554.2 NP_872360.2 Q8N6V4 CJ053_HUMAN chromosome 10 open reading frame 53 NA NA endometrium(1)|lung(6) 7 all_neural(218;0.107) ACAGTTGCTCGAGGGCCAGTG 0.458 NA G||| 2042 0.407748 0.4977 0.464 5008 , , NA 21696 0.1538 NA 0.495 False NA ,,, NA NA NA 2504 0.4182 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC028127 CCDS31202.1, CCDS41521.1 10q11.23 2012-05-24 ENSG00000178645 ENSG00000178645 282966 27421 protein-coding gene gene with protein product NA 12477932 Standard NM_182554 NM_182554 NA Approved Em:AC069546.1 uc001jid.1 Q8N6V4 OTTHUMG00000018199 ENST00000374112.3:c.*1599G>A chr10.hg19:g.50918262G>A NA A6NI81|A6NLE0|B9ZVK6 hg19 CCDS31202.1 0.02 4.378271 CTCxAGG COVERED NOVEL C10orf53-003 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000048006.1 1 6.019152 KEEP 0 0 0 20 665 GG 0.999863 0.999863 0 + 6 60 220 0 0 13.966398 142 60 5134 191 ENST00000374112.3 0.040541 1 AGAP7 0 __UNKNOWN__ __UNKNOWN__ 10 51485976 51485976 __UNKNOWN__ Intron SNP C C T rs201994933 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:51485976C>T ENST00000374095.5 - 1 349 NM_001077685.1 NP_001071153.1 Q5VUJ5 AGAP7_HUMAN NA NA regulation of ARF GTPase activity (GO:0032312) ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270) kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1) 11 ATCACCTCCTCACCTTCAGGC 0.582 NA NA NA NA NA NA NA NA NA NA NA 0 1 1 1 NA NA 10 NA 51485976 8 2 10 SO:0001627 intron_variant NA NA NA NA ENST00000374095.5:c.223+2G>A chr10.hg19:g.51485976C>T NA A6NGH4 hg19 CCDS41524.1 0.02 -0.193014 CCTxACC UNCOVERED NOVEL AGAP7-001 KNOWN non_canonical_TEC|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000048033.1 0 2.407795 KEEP 26 0 0 8 275 CC 0 0 0 - 8 21 292 0 0 26.754043 14 25 536 65 ENST00000374095.5 0.363636 0.457757 ASAH2B 653308 __UNKNOWN__ __UNKNOWN__ 10 52514778 52514778 __UNKNOWN__ 3'UTR SNP A A G rs74638595 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:52514778A>G ENST00000374007.1 + 0 1545 ASAH2B_ENST00000483649.1_Intron|ASAH2B_ENST00000185907.9_3'UTR P0C7U1 ASA2B_HUMAN N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2B NA NA large_intestine(2)|lung(2) 4 TCTACAGCCTAAAGCATGATT 0.413 NA A||| 1778 0.355032 0.0893 0.6124 5008 , , NA 12446 0.4177 NA 0.4881 False NA ,,, NA NA NA 2504 0.3303 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BI553338 CCDS31203.1 10q11.23 2010-05-04 ENSG00000204147 ENSG00000204147 653308 23456 protein-coding gene gene with protein product 610987 NA 17334805 Standard NM_001079516 NA Approved bA449O16.3, ASAH2L uc001jjg.4 P0C7U1 OTTHUMG00000018239 ENST00000374007.1:c.*278A>G chr10.hg19:g.52514778A>G NA B7Z261 hg19 0.02 8.953186 CCTxAAG COVERED NOVEL ASAH2B-002 KNOWN basic|appris_candidate protein_coding NA protein_coding OTTHUMT00000048083.1 6 20.758141 KEEP 5 0 0 69 2048 AA 1 1 0 + 9 58 340 0 0 22.260643 196 60 6950 359 ENST00000374007.1 0.043902 1 A1CF 29974 __UNKNOWN__ __UNKNOWN__ 10 52566594 52566594 __UNKNOWN__ Silent SNP G G C rs34190540 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:52566594G>C ENST00000373993.1 - 11 1724 c.1680C>G c.(1678-1680)ctC>ctG p.L560L A1CF_ENST00000374001.2_Silent_p.L552L|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000282641.2_Silent_p.L560L|A1CF_ENST00000395489.2_Silent_p.L553L|A1CF_ENST00000373997.3_Silent_p.L552L|A1CF_ENST00000395495.1_Silent_p.L505L|A1CF_ENST00000373995.3_Silent_p.L560L Q9NQ94 A1CF_HUMAN APOBEC1 complementation factor 560 NA cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821) apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727) NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3) 29 CCGCTTGCTTGAGCTGGGCTG 0.498 NA G||| 210 0.0419329 0.0038 0.1311 5008 , , NA 15359 0.1071 NA 0.004 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 G ,,,,, 34,4372 38.4+/-70.7 1,32,2170 131 116 121 1656,1704,1680,1656,1680,1680 4.8 1 10 dbSNP_126 121 49,8551 32.8+/-85.7 0,49,4251 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous A1CF NM_001198818.1,NM_001198819.1,NM_001198820.1,NM_014576.3,NM_138932.2,NM_138933.2 ,,,,, 1,81,6421 CC,CG,GG 0.5698,0.7717,0.6382 ,,,,, 552/587,568/603,560/595,552/587,560/595,560/595 52566594 83,12923 2203 4300 6503 SO:0001819 synonymous_variant AF271790 CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1 10q21.1 2013-02-12 ENSG00000148584 ENSG00000148584 29974 RNA binding motif (RRM) containing 24086 protein-coding gene gene with protein product NA 11815617, 11072063 Standard NM_014576 NM_014576 NA Approved ACF, ASP, ACF64, ACF65, APOBEC1CF uc001jjj.3 Q9NQ94 OTTHUMG00000018240 ENST00000373993.1:c.1680C>G chr10.hg19:g.52566594G>C NA A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3 hg19 CCDS7242.1 0.02 2.227491 CTTxAGC COVERED NOVEL A1CF-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000048086.2 0 4.815503 KEEP 0 0 0 16 557 GG 0.997832 0.99778 0 - 4 60 160 0 0 10.652144 94 60 3577 135 ENST00000373993.1 0.040816 0.999948 ZWINT 11130 __UNKNOWN__ __UNKNOWN__ 10 58117813 58117813 __UNKNOWN__ 3'UTR SNP A A G rs11005327 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:58117813A>G ENST00000373944.3 - 0 1047 ZWINT_ENST00000318387.2_3'UTR|ZWINT_ENST00000460654.1_5'UTR|ZWINT_ENST00000395405.1_3'UTR O95229 ZWINT_HUMAN ZW10 interacting kinetochore protein NA NA establishment of localization in cell (GO:0051649)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid segregation (GO:0000070) cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|kinetochore (GO:0000776)|nucleus (GO:0005634) protein N-terminus binding (GO:0047485) NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1) 20 GAACAAATACACAACTGAGAG 0.438 NA A||| 9 0.00179712 0.0 0.0 5008 , , NA 20483 0.0089 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF067656 CCDS7249.1, CCDS31205.1 10q21-q22 2013-05-01 2013-05-01 ENSG00000122952 ENSG00000122952 11130 13195 protein-coding gene gene with protein product 609177 ZW10 interactor NA Standard XM_005269463 NA Approved KNTC2AP uc001jka.1 O95229 OTTHUMG00000018261 ENST00000373944.3:c.*175T>C chr10.hg19:g.58117813A>G NA A6NNV6|Q0D2I3|Q9BWD0 hg19 CCDS7249.1 0.02 17.424176 TACxCAA COVERED NOVEL ZWINT-009 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000048132.1 2 16.248752 KEEP 0 0 0 54 1694 AA 1 1 0 - 12 60 441 0 0 26.041016 419 60 15331 582 ENST00000373944.3 0.027842 1 IPMK 253430 __UNKNOWN__ __UNKNOWN__ 10 59953829 59953829 __UNKNOWN__ 3'UTR SNP G G A rs1769039 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:59953829G>A ENST00000373935.3 - 0 3581 NM_152230.4 NP_689416.1 Q8NFU5 IPMK_HUMAN inositol polyphosphate multikinase NA NA inositol phosphate biosynthetic process (GO:0032958)|inositol phosphate metabolic process (GO:0043647)|neural tube formation (GO:0001841)|small molecule metabolic process (GO:0044281) nucleoplasm (GO:0005654)|nucleus (GO:0005634) ATP binding (GO:0005524)|inositol tetrakisphosphate 3-kinase activity (GO:0000824)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)|inositol-1,4,5-trisphosphate 6-kinase activity (GO:0000823) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1) 22 TTACAAAATTGTATTTCCAAA 0.259 NA A||| 1996 0.398562 0.6936 0.2493 5008 , , NA 16651 0.4315 NA 0.2097 False NA ,,, NA NA NA 2504 0.2658 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF432853 CCDS7250.1 10q21.1 2010-11-29 2004-07-22 ENSG00000151151 ENSG00000151151 253430 20739 protein-coding gene gene with protein product 609851 NA 12223481, 12027805 Standard NM_152230 NM_152230 NA Approved uc001jkb.3 Q8NFU5 OTTHUMG00000018268 ENST00000373935.3:c.*2008C>T chr10.hg19:g.59953829G>A NA hg19 CCDS7250.1 0.02 11.393749 ATTxTAT COVERED NOVEL IPMK-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000048142.1 3 15.650584 KEEP 0 0 0 52 1840 GG 1 1 0 - 10 60 384 0 0 24.301496 279 60 10568 415 ENST00000373935.3 0.034602 1 IPMK 253430 __UNKNOWN__ __UNKNOWN__ 10 59954081 59954081 __UNKNOWN__ 3'UTR SNP C C T rs1769040 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:59954081C>T ENST00000373935.3 - 0 3329 NM_152230.4 NP_689416.1 Q8NFU5 IPMK_HUMAN inositol polyphosphate multikinase NA NA inositol phosphate biosynthetic process (GO:0032958)|inositol phosphate metabolic process (GO:0043647)|neural tube formation (GO:0001841)|small molecule metabolic process (GO:0044281) nucleoplasm (GO:0005654)|nucleus (GO:0005634) ATP binding (GO:0005524)|inositol tetrakisphosphate 3-kinase activity (GO:0000824)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)|inositol-1,4,5-trisphosphate 6-kinase activity (GO:0000823) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1) 22 ACTAAAAATTCTGATTATTAT 0.254 NA T||| 1996 0.398562 0.6936 0.2493 5008 , , NA 14407 0.4315 NA 0.2097 False NA ,,, NA NA NA 2504 0.2658 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF432853 CCDS7250.1 10q21.1 2010-11-29 2004-07-22 ENSG00000151151 ENSG00000151151 253430 20739 protein-coding gene gene with protein product 609851 NA 12223481, 12027805 Standard NM_152230 NM_152230 NA Approved uc001jkb.3 Q8NFU5 OTTHUMG00000018268 ENST00000373935.3:c.*1756G>A chr10.hg19:g.59954081C>T NA hg19 CCDS7250.1 0.02 6.495338 ATTxTGA COVERED NOVEL IPMK-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000048142.1 1 12.039143 KEEP 0 0 0 40 1432 CC 1 1 0 - 6 60 222 0 0 14.022498 150 60 5698 239 ENST00000373935.3 0.038462 1 IPMK 253430 __UNKNOWN__ __UNKNOWN__ 10 59955301 59955301 __UNKNOWN__ 3'UTR SNP G G A rs1698374 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:59955301G>A ENST00000373935.3 - 0 2109 NM_152230.4 NP_689416.1 Q8NFU5 IPMK_HUMAN inositol polyphosphate multikinase NA NA inositol phosphate biosynthetic process (GO:0032958)|inositol phosphate metabolic process (GO:0043647)|neural tube formation (GO:0001841)|small molecule metabolic process (GO:0044281) nucleoplasm (GO:0005654)|nucleus (GO:0005634) ATP binding (GO:0005524)|inositol tetrakisphosphate 3-kinase activity (GO:0000824)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)|inositol-1,4,5-trisphosphate 6-kinase activity (GO:0000823) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1) 22 TTTCACTAAGGAGCACCCTTT 0.294 NA A||| 1996 0.398562 0.6936 0.2478 5008 , , NA 17068 0.4315 NA 0.2107 False NA ,,, NA NA NA 2504 0.2658 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF432853 CCDS7250.1 10q21.1 2010-11-29 2004-07-22 ENSG00000151151 ENSG00000151151 253430 20739 protein-coding gene gene with protein product 609851 NA 12223481, 12027805 Standard NM_152230 NM_152230 NA Approved uc001jkb.3 Q8NFU5 OTTHUMG00000018268 ENST00000373935.3:c.*536C>T chr10.hg19:g.59955301G>A NA hg19 CCDS7250.1 0.02 23.71821 AAGxAGC COVERED NOVEL IPMK-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000048142.1 3 20.163335 KEEP 0 0 0 67 2322 GG 1 1 0 - 21 60 765 0 0 47.211588 566 60 20998 795 ENST00000373935.3 0.035775 1 IPMK 253430 __UNKNOWN__ __UNKNOWN__ 10 59956041 59956041 __UNKNOWN__ Missense_Mutation SNP C C T rs2275443 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:59956041C>T ENST00000373935.3 - 6 1369 c.1047G>A c.(1045-1047)atG>atA p.M349I NM_152230.4 NP_689416.1 Q8NFU5 IPMK_HUMAN inositol polyphosphate multikinase 349 NA M -> I (in dbSNP:rs2275443). inositol phosphate biosynthetic process (GO:0032958)|inositol phosphate metabolic process (GO:0043647)|neural tube formation (GO:0001841)|small molecule metabolic process (GO:0044281) nucleoplasm (GO:0005654)|nucleus (GO:0005634) ATP binding (GO:0005524)|inositol tetrakisphosphate 3-kinase activity (GO:0000824)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)|inositol-1,4,5-trisphosphate 6-kinase activity (GO:0000823) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1) 22 GTTCCTGTGACATGCTTTTCC 0.393 NA C||| 569 0.113618 0.1059 0.0692 5008 , , NA 19706 0.2808 NA 0.0139 False NA ,,, NA NA NA 2504 0.0859 NA NA NA NA 0 C ILE/MET 356,4050 183.6+/-211.2 12,332,1859 173 178 176 1047 5 1 10 dbSNP_100 176 90,8510 50.2+/-110.2 3,84,4213 yes missense IPMK NM_152230.4 10 15,416,6072 TT,TC,CC 1.0465,8.0799,3.4292 benign 349/417 59956041 446,12560 2203 4300 6503 SO:0001583 missense AF432853 CCDS7250.1 10q21.1 2010-11-29 2004-07-22 ENSG00000151151 ENSG00000151151 253430 20739 protein-coding gene gene with protein product 609851 NA 12223481, 12027805 Standard NM_152230 NM_152230 NA Approved uc001jkb.3 Q8NFU5 OTTHUMG00000018268 ENST00000373935.3:c.1047G>A chr10.hg19:g.59956041C>T ENSP00000363046:p.Met349Ile NA hg19 CCDS7250.1 0.02 5.947027 TGAxATG COVERED 237 0.10851648351648352 56 0.11382113821138211 15 0.04143646408839779 157 0.2744755244755245 9 0.011873350923482849 C 10.99 1.507141 0.27036 0.080799 0.010465 ENSG00000151151 ENST00000373935 T 0.15718 2.4 5.87 4.96 0.65561 . 0.555461 0.21773 N 0.069338 T 0.00012 0.0000 N 0.03115 -0.41 0.38476 P 0.052390999999999965 B 0.02656 0.0 B 0.01281 0.0 T 0.44711 -0.9310 8 . . . -2.1704 11.2988 0.49294 0.0:0.9144:0.0:0.0856 rs2275443;rs7087107 349 Q8NFU5 IPMK_HUMAN I 349 ENSP00000363046:M349I . M - 3 0 IPMK 59626047 0.905000 0.30787 1.000000 0.80357 0.995000 0.86356 0.267000 0.18552 2.784000 0.95788 0.585000 0.79938 ATG NOVEL IPMK-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000048142.1 3 4.213633 KEEP 0 0 0 14 487 CC 0.995343 0.995343 0 - 9 60 329 0 0 21.839616 164 60 6106 196 ENST00000373935.3 0.052023 1 CISD1 55847 __UNKNOWN__ __UNKNOWN__ 10 60028894 60028894 __UNKNOWN__ 5'UTR SNP C C T rs2251039 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:60028894C>T ENST00000333926.5 + 0 77 NM_018464.4 NP_060934.1 Q9NZ45 CISD1_HUMAN CDGSH iron sulfur domain 1 NA NA regulation of cellular respiration (GO:0043457) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739) 2 iron, 2 sulfur cluster binding (GO:0051537)|metal ion binding (GO:0046872) breast(1) 1 ACACACGTGCCTACGACCCGC 0.642 NA T||| 1987 0.396765 0.6936 0.2493 5008 , , NA 16637 0.4315 NA 0.2087 False NA ,,, NA NA NA 2504 0.2577 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AY960578 CCDS7251.1 10q21.3 2011-01-05 2007-08-10 2007-08-10 ENSG00000122873 ENSG00000122873 55847 CDGSH iron sulfur domain containing 30880 protein-coding gene gene with protein product 611932 chromosome 10 open reading frame 70, zinc finger, CDGSH-type domain 1 C10orf70, ZCD1 NA 17376863, 17584744 Standard NM_018464 NM_018464 NA Approved MDS029, mitoNEET uc001jkc.5 Q9NZ45 OTTHUMG00000018266 ENST00000333926.5:c.-140C>T chr10.hg19:g.60028894C>T NA Q1X902 hg19 CCDS7251.1 0.02 8.148226 TGCxTAC COVERED NOVEL CISD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000048137.1 1 54.477932 KEEP 0 0 0 181 6551 CC 1 1 0 + 11 60 393 0 0 25.167269 229 70 8533 552 ENST00000333926.5 0.045833 1 UBE2D1 7321 __UNKNOWN__ __UNKNOWN__ 10 60127838 60127838 __UNKNOWN__ Intron SNP G G A rs75362994 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:60127838G>A ENST00000373910.4 + 6 625 NM_001204880.1|NM_003338.4 NP_001191809.1|NP_003329.1 P51668 UB2D1_HUMAN ubiquitin-conjugating enzyme E2D 1 NA NA anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|BMP signaling pathway (GO:0030509)|cellular response to hypoxia (GO:0071456)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ubiquitin-dependent protein catabolic process (GO:0006511) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151) acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842) central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|prostate(1)|skin(2) 10 GCCAAAACACGAATATTATCA 0.269 NA g||| 541 0.108027 0.0719 0.0793 5008 , , NA 16595 0.2808 NA 0.0189 False NA ,,, NA NA NA 2504 0.091 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC015997 CCDS7252.1, CCDS73139.1 10q21.1 2011-05-19 2011-05-19 ENSG00000072401 ENSG00000072401 7321 Ubiquitin-conjugating enzymes E2 12474 protein-coding gene gene with protein product 602961 stimulator of Fe transport, ubiquitin-conjugating enzyme E2D 1 (UBC4/5 homolog, yeast) SFT NA 10072594, 8530467 Standard NM_003338 NM_003338 NA Approved UbcH5A, UBCH5, UBC4/5, E2(17)KB1 uc001jke.2 P51668 OTTHUMG00000018269 ENST00000373910.4:c.398+62G>A chr10.hg19:g.60127838G>A NA A6NLF6|A8K786 hg19 CCDS7252.1 0.02 1.936588 CACxAAT COVERED NOVEL UBE2D1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000048143.2 0 6.016146 KEEP 0 0 0 20 650 GG 0.999863 0.999802 0 + 4 60 146 0 0 9.271848 93 60 3438 127 ENST00000373910.4 0.041237 0.99994 TFAM 7019 __UNKNOWN__ __UNKNOWN__ 10 60155981 60155981 __UNKNOWN__ 3'UTR SNP T T C rs17847532 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:60155981T>C ENST00000487519.1 + 0 2414 NM_001270782.1|NM_003201.2 NP_001257711.1|NP_003192.1 Q00059 TFAM_HUMAN transcription factor A, mitochondrial NA NA DNA-dependent DNA replication (GO:0006261)|gene expression (GO:0010467)|mitochondrial respiratory chain complex assembly (GO:0033108)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391) mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634) chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|mitochondrial light strand promoter sense binding (GO:0070363)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700) kidney(1)|large_intestine(1)|lung(4)|prostate(1) 7 caaagcctgatatttactgtc 0.373 NA T||| 434 0.0866613 0.0023 0.0793 5008 , , NA 14655 0.2857 NA 0.0189 False NA ,,, NA NA NA 2504 0.0706 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC018628 CCDS7253.1, CCDS59217.1 10q21 2010-09-24 ENSG00000108064 ENSG00000108064 7019 11741 protein-coding gene gene with protein product 600438 TCF6, TCF6L2 NA 7789991 Standard NM_003201 NM_003201 NA Approved uc001jkf.4 Q00059 OTTHUMG00000018270 ENST00000487519.1:c.*1147T>C chr10.hg19:g.60155981T>C NA A8MRB2|A9QXC6|B5BU05|Q5U0C6 hg19 CCDS7253.1 0.02 5.027516 TGAxATT COVERED NOVEL TFAM-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000048146.1 0 9.327346 KEEP 0 0 0 31 952 TT 0.999997 0.999988 0 + 5 60 195 0 0 13.095695 103 60 3681 186 ENST00000487519.1 0.046296 0.999991 TFAM 7019 __UNKNOWN__ __UNKNOWN__ 10 60156602 60156602 __UNKNOWN__ 3'UTR SNP T T C rs74827573 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:60156602T>C ENST00000487519.1 + 0 3035 NM_001270782.1|NM_003201.2 NP_001257711.1|NP_003192.1 Q00059 TFAM_HUMAN transcription factor A, mitochondrial NA NA DNA-dependent DNA replication (GO:0006261)|gene expression (GO:0010467)|mitochondrial respiratory chain complex assembly (GO:0033108)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391) mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634) chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|mitochondrial light strand promoter sense binding (GO:0070363)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700) kidney(1)|large_intestine(1)|lung(4)|prostate(1) 7 AATAGTAGCTTATGAGGAAAT 0.373 NA T||| 525 0.104832 0.0318 0.0807 5008 , , NA 18399 0.2867 NA 0.0189 False NA ,,, NA NA NA 2504 0.1217 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC018628 CCDS7253.1, CCDS59217.1 10q21 2010-09-24 ENSG00000108064 ENSG00000108064 7019 11741 protein-coding gene gene with protein product 600438 TCF6, TCF6L2 NA 7789991 Standard NM_003201 NM_003201 NA Approved uc001jkf.4 Q00059 OTTHUMG00000018270 ENST00000487519.1:c.*1768T>C chr10.hg19:g.60156602T>C NA A8MRB2|A9QXC6|B5BU05|Q5U0C6 hg19 CCDS7253.1 0.02 6.759535 GCTxATG COVERED NOVEL TFAM-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000048146.1 2 6.319282 KEEP 0 0 0 21 664 TT 0.999869 0.999869 0 + 6 60 232 0 0 14.953698 154 60 5541 217 ENST00000487519.1 0.0375 1 TFAM 7019 __UNKNOWN__ __UNKNOWN__ 10 60156686 60156686 __UNKNOWN__ 3'UTR SNP A A G rs16912201 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:60156686A>G ENST00000487519.1 + 0 3119 NM_001270782.1|NM_003201.2 NP_001257711.1|NP_003192.1 Q00059 TFAM_HUMAN transcription factor A, mitochondrial NA NA DNA-dependent DNA replication (GO:0006261)|gene expression (GO:0010467)|mitochondrial respiratory chain complex assembly (GO:0033108)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391) mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634) chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|mitochondrial light strand promoter sense binding (GO:0070363)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700) kidney(1)|large_intestine(1)|lung(4)|prostate(1) 7 CTCTGGGTGCAGACAGGACAG 0.423 NA A||| 520 0.103834 0.0257 0.0807 5008 , , NA 17987 0.2907 NA 0.0189 False NA ,,, NA NA NA 2504 0.1207 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC018628 CCDS7253.1, CCDS59217.1 10q21 2010-09-24 ENSG00000108064 ENSG00000108064 7019 11741 protein-coding gene gene with protein product 600438 TCF6, TCF6L2 NA 7789991 Standard NM_003201 NM_003201 NA Approved uc001jkf.4 Q00059 OTTHUMG00000018270 ENST00000487519.1:c.*1852A>G chr10.hg19:g.60156686A>G NA A8MRB2|A9QXC6|B5BU05|Q5U0C6 hg19 CCDS7253.1 0.02 4.239721 TGCxGAC COVERED NOVEL TFAM-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000048146.1 0 2.707904 KEEP 0 0 0 9 273 AA 0.99254 0.992529 0 + 7 60 188 0 0 11.395309 100 60 3662 125 ENST00000487519.1 0.065421 0.999989 TFAM 7019 __UNKNOWN__ __UNKNOWN__ 10 60157611 60157611 __UNKNOWN__ 3'UTR SNP C C T rs7089827 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:60157611C>T ENST00000487519.1 + 0 4044 NM_001270782.1|NM_003201.2 NP_001257711.1|NP_003192.1 Q00059 TFAM_HUMAN transcription factor A, mitochondrial NA NA DNA-dependent DNA replication (GO:0006261)|gene expression (GO:0010467)|mitochondrial respiratory chain complex assembly (GO:0033108)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391) mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634) chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|mitochondrial light strand promoter sense binding (GO:0070363)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700) kidney(1)|large_intestine(1)|lung(4)|prostate(1) 7 gcagccttgacctcctgggct 0.478 NA C||| 1104 0.220447 0.3381 0.1599 5008 , , NA 17663 0.2867 NA 0.0905 False NA ,,, NA NA NA 2504 0.1697 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC018628 CCDS7253.1, CCDS59217.1 10q21 2010-09-24 ENSG00000108064 ENSG00000108064 7019 11741 protein-coding gene gene with protein product 600438 TCF6, TCF6L2 NA 7789991 Standard NM_003201 NM_003201 NA Approved uc001jkf.4 Q00059 OTTHUMG00000018270 ENST00000487519.1:c.*2777C>T chr10.hg19:g.60157611C>T NA A8MRB2|A9QXC6|B5BU05|Q5U0C6 hg19 CCDS7253.1 0.02 1.646107 TGAxCTC COVERED NOVEL TFAM-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000048146.1 10 15.949136 KEEP 0 0 0 53 1883 CC 1 0.99993 0 + 4 60 144 0 0 9.127874 90 60 3352 200 ENST00000487519.1 0.042553 0.99993 TFAM 7019 __UNKNOWN__ __UNKNOWN__ 10 60157641 60157641 __UNKNOWN__ 3'UTR SNP G G A rs77032090 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:60157641G>A ENST00000487519.1 + 0 4074 NM_001270782.1|NM_003201.2 NP_001257711.1|NP_003192.1 Q00059 TFAM_HUMAN transcription factor A, mitochondrial NA NA DNA-dependent DNA replication (GO:0006261)|gene expression (GO:0010467)|mitochondrial respiratory chain complex assembly (GO:0033108)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391) mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634) chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|mitochondrial light strand promoter sense binding (GO:0070363)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700) kidney(1)|large_intestine(1)|lung(4)|prostate(1) 7 cttccgagtcgttgggactac 0.473 NA G||| 525 0.104832 0.0318 0.0807 5008 , , NA 18048 0.2867 NA 0.0189 False NA ,,, NA NA NA 2504 0.1217 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC018628 CCDS7253.1, CCDS59217.1 10q21 2010-09-24 ENSG00000108064 ENSG00000108064 7019 11741 protein-coding gene gene with protein product 600438 TCF6, TCF6L2 NA 7789991 Standard NM_003201 NM_003201 NA Approved uc001jkf.4 Q00059 OTTHUMG00000018270 ENST00000487519.1:c.*2807G>A chr10.hg19:g.60157641G>A NA A8MRB2|A9QXC6|B5BU05|Q5U0C6 hg19 CCDS7253.1 0.02 4.182496 GTCxTTG COVERED NOVEL TFAM-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000048146.1 12 21.669561 KEEP 0 0 0 72 2498 GG 1 1 0 + 5 60 178 0 0 10.913381 130 60 4505 266 ENST00000487519.1 0.037037 1 TFAM 7019 __UNKNOWN__ __UNKNOWN__ 10 60158070 60158070 __UNKNOWN__ 3'UTR SNP T T G rs16912202 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:60158070T>G ENST00000487519.1 + 0 4503 NM_001270782.1|NM_003201.2 NP_001257711.1|NP_003192.1 Q00059 TFAM_HUMAN transcription factor A, mitochondrial NA NA DNA-dependent DNA replication (GO:0006261)|gene expression (GO:0010467)|mitochondrial respiratory chain complex assembly (GO:0033108)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391) mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634) chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|mitochondrial light strand promoter sense binding (GO:0070363)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700) kidney(1)|large_intestine(1)|lung(4)|prostate(1) 7 GCTGAAGAAATGAAATCAAGC 0.333 NA T||| 525 0.104832 0.0318 0.0807 5008 , , NA 20031 0.2867 NA 0.0189 False NA ,,, NA NA NA 2504 0.1217 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC018628 CCDS7253.1, CCDS59217.1 10q21 2010-09-24 ENSG00000108064 ENSG00000108064 7019 11741 protein-coding gene gene with protein product 600438 TCF6, TCF6L2 NA 7789991 Standard NM_003201 NM_003201 NA Approved uc001jkf.4 Q00059 OTTHUMG00000018270 ENST00000487519.1:c.*3236T>G chr10.hg19:g.60158070T>G NA A8MRB2|A9QXC6|B5BU05|Q5U0C6 hg19 CCDS7253.1 0.02 9.443217 AAAxGAA COVERED NOVEL TFAM-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000048146.1 3 9.327827 KEEP 0 0 0 31 964 TT 0.999997 0.999997 0 + 11 60 420 0 0 28.608567 195 60 7251 290 ENST00000487519.1 0.053398 1 FAM13C 220965 __UNKNOWN__ __UNKNOWN__ 10 61062538 61062538 __UNKNOWN__ Intron SNP T T C rs72808548 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:61062538T>C ENST00000373868.2 - 5 595 FAM13C_ENST00000435852.2_Intron|FAM13C_ENST00000419214.2_Intron|FAM13C_ENST00000422313.2_Intron|FAM13C_ENST00000277705.6_Intron|FAM13C_ENST00000373867.3_Intron|FAM13C_ENST00000442566.3_Intron|FAM13C_ENST00000510215.2_Intron|FAM13C_ENST00000468840.2_Intron NM_198215.3 NP_937858.2 Q8NE31 FA13C_HUMAN family with sequence similarity 13, member C NA NA NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 CATGTTCTTATAACCAGTAAT 0.338 NA T||| 829 0.165535 0.0227 0.1801 5008 , , NA 18173 0.2619 NA 0.2197 False NA ,,, NA NA NA 2504 0.1933 NA NA NA NA 0 T ,,, 232,4174 137.7+/-173.5 6,220,1977 99 93 95 ,,, -4.9 0 10 dbSNP_130 95 1668,6932 306.0+/-307.7 152,1364,2784 no intron,intron,intron,intron FAM13C NM_001001971.2,NM_001143773.1,NM_001166698.1,NM_198215.3 ,,, 158,1584,4761 CC,CT,TT 19.3953,5.2655,14.6086 ,,, ,,, 61062538 1900,11106 2203 4300 6503 SO:0001627 intron_variant U79304 CCDS31207.1, CCDS44406.1, CCDS7255.1, CCDS53538.1 10q21 2009-09-15 2009-01-20 2009-01-20 ENSG00000148541 ENSG00000148541 220965 19371 protein-coding gene gene with protein product family with sequence similarity 13, member C1 FAM13C1 NA Standard NM_001001971 NA Approved uc001jkn.3 Q8NE31 OTTHUMG00000018277 ENST00000373868.2:c.507+22A>G chr10.hg19:g.61062538T>C NA B7ZB77|Q5T631|Q6P2M3|Q99787 hg19 CCDS7255.1 0.02 6.723262 TTAxAAC COVERED NOVEL FAM13C-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000048162.2 1 15.043731 KEEP 0 0 0 50 1521 TT 1 1 0 - 6 60 232 0 0 14.542267 181 60 6549 305 ENST00000373868.2 0.032086 1 SLC16A9 220963 __UNKNOWN__ __UNKNOWN__ 10 61414011 61414011 __UNKNOWN__ Missense_Mutation SNP G G T rs2242206 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:61414011G>T ENST00000395348.3 - 5 1409 c.773C>A c.(772-774)aCa>aAa p.T258K SLC16A9_ENST00000395347.1_Missense_Mutation_p.T258K NM_194298.2 NP_919274.1 Q7RTY1 MOT9_HUMAN solute carrier family 16, member 9 258 NA T -> K (in dbSNP:rs2242206). urate metabolic process (GO:0046415) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) symporter activity (GO:0015293) kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 23 GTGTGTCACTGTGGGGTTTTT 0.398 NA G||| 1728 0.345048 0.0696 0.3847 5008 , , NA 19641 0.5804 NA 0.2664 False NA ,,, NA NA NA 2504 0.5276 NA NA NA NA 0 G LYS/THR 468,3938 219.1+/-236.9 23,422,1758 226 214 218 773 2 0 10 dbSNP_98 218 2235,6365 379.4+/-339.3 307,1621,2372 yes missense SLC16A9 NM_194298.2 78 330,2043,4130 TT,TG,GG 25.9884,10.6219,20.7827 benign 258/510 61414011 2703,10303 2203 4300 6503 SO:0001583 missense AK125791 CCDS7256.1 10q21.3 2013-07-18 2013-07-18 2004-01-21 ENSG00000165449 ENSG00000165449 220963 Solute carriers 23520 protein-coding gene gene with protein product monocarboxylic acid transporter 9 614242 chromosome 10 open reading frame 36, solute carrier family 16 (monocarboxylic acid transporters), member 9, solute carrier family 16, member 9 (monocarboxylic acid transporter 9) C10orf36 NA Standard NM_194298 NM_194298 NA Approved FLJ43803, MCT9 uc010qig.1 Q7RTY1 OTTHUMG00000018283 ENST00000395348.3:c.773C>A chr10.hg19:g.61414011G>T ENSP00000378757:p.Thr258Lys NA Q6ZMI2|Q9UFH8 hg19 CCDS7256.1 0.02 20.605017 ACTxTGG COVERED 714 0.3269230769230769 48 0.0975609756097561 113 0.31215469613259667 342 0.5979020979020979 211 0.2783641160949868 G 0.004 -2.322151 0.00232 0.106219 0.259884 ENSG00000165449 ENST00000395348;ENST00000395347 T;T 0.04119 3.7;3.7 5.02 2.0 0.26442 Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1); 1.506790 0.03439 N 0.209031 T 0.00012 0.0000 N 0.12182 0.205 0.80722 P 0.0 B 0.25007 0.116 B 0.22152 0.038 T 0.37384 -0.9708 9 0.05959 T 0.93 . 3.3426 0.07124 0.2824:0.0:0.4133:0.3043 rs2242206;rs52832507;rs61451304;rs2242206 258 Q7RTY1 MOT9_HUMAN K 258 ENSP00000378757:T258K;ENSP00000378756:T258K ENSP00000378756:T258K T - 2 0 SLC16A9 61084017 0.001000 0.12720 0.002000 0.10522 0.105000 0.19272 1.236000 0.32683 0.470000 0.27294 0.591000 0.81541 ACA NOVEL SLC16A9-001 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000048174.2 2 45.147162 KEEP 0 0 0 150 5337 GG 1 1 0 - 19 60 689 0 0 42.547642 503 60 19174 843 ENST00000395348.3 0.036398 1 SLC16A9 220963 __UNKNOWN__ __UNKNOWN__ 10 61443808 61443808 __UNKNOWN__ Intron SNP A A G rs1171660 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:61443808A>G ENST00000395348.3 - 2 833 SLC16A9_ENST00000395347.1_Intron NM_194298.2 NP_919274.1 Q7RTY1 MOT9_HUMAN solute carrier family 16, member 9 NA NA urate metabolic process (GO:0046415) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) symporter activity (GO:0015293) kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 23 AGTAAATGTAATTAAATGATT 0.373 NA A||| 2571 0.513379 0.4682 0.4957 5008 , , NA 20481 0.7143 NA 0.326 False NA ,,, NA NA NA 2504 0.5726 NA NA NA NA 0 A 2115,2291 568.7+/-382.4 503,1109,591 38 39 39 2.8 0 10 dbSNP_87 39 2723,5877 426.8+/-355.4 453,1817,2030 no intron SLC16A9 NM_194298.2 956,2926,2621 GG,GA,AA 31.6628,48.0027,37.1982 61443808 4838,8168 2203 4300 6503 SO:0001627 intron_variant AK125791 CCDS7256.1 10q21.3 2013-07-18 2013-07-18 2004-01-21 ENSG00000165449 ENSG00000165449 220963 Solute carriers 23520 protein-coding gene gene with protein product monocarboxylic acid transporter 9 614242 chromosome 10 open reading frame 36, solute carrier family 16 (monocarboxylic acid transporters), member 9, solute carrier family 16, member 9 (monocarboxylic acid transporter 9) C10orf36 NA Standard NM_194298 NM_194298 NA Approved FLJ43803, MCT9 uc010qig.1 Q7RTY1 OTTHUMG00000018283 ENST00000395348.3:c.196+45T>C chr10.hg19:g.61443808A>G NA Q6ZMI2|Q9UFH8 hg19 CCDS7256.1 0.02 9.259476 GTAxTTA COVERED NOVEL SLC16A9-001 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000048174.2 2 11.736031 KEEP 0 0 0 39 1267 AA 1 1 0 - 19 60 679 0 0 48.692116 208 60 7517 305 ENST00000395348.3 0.0837 1 CCDC6 8030 __UNKNOWN__ __UNKNOWN__ 10 61592447 61592447 __UNKNOWN__ Intron SNP G G C rs6479653 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:61592447G>C ENST00000263102.6 - 3 685 NM_005436.4 NP_005427.2 Q16204 CCDC6_HUMAN coiled-coil domain containing 6 NA NA cytoplasm (GO:0005737)|cytoskeleton (GO:0005856) structural constituent of cytoskeleton (GO:0005200) CCDC6/RET(4) breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1) 18 Kidney(211;0.0597) TGGAAATCAGGCAACTCAAAT 0.403 NA T RET NSCLC G||| 1209 0.241414 0.3979 0.1354 5008 , , NA 18339 0.245 NA 0.1044 False NA ,,, NA NA NA 2504 0.2423 NA NA NA Dom yes 10 10q21 8030 coiled-coil domain containing 6 E 0 G 1422,2984 454.2+/-350.6 239,944,1020 75 67 70 2.9 0 10 dbSNP_116 70 852,7748 189.6+/-236.3 38,776,3486 no intron CCDC6 NM_005436.4 277,1720,4506 CC,CG,GG 9.907,32.2742,17.4842 61592447 2274,10732 2203 4300 6503 SO:0001627 intron_variant S72869 CCDS7257.1 10q21.2 2006-11-09 2004-01-20 ENSG00000108091 ENSG00000108091 8030 18782 protein-coding gene gene with protein product DNA segment, single copy, probe pH4 (transforming sequence, thyroid-1 601985 DNA segment on chromosome 10 (unique) 170 TST1, D10S170 NA 8058316, 6745938 Standard NM_005436 NM_005436 NA Approved PTC, TPC, H4 uc001jks.4 Q16204 OTTHUMG00000018284 ENST00000263102.6:c.454-36C>G chr10.hg19:g.61592447G>C NA Q15250|Q6GSG7 hg19 CCDS7257.1 0.02 11.108056 CAGxCAA COVERED NOVEL CCDC6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000048176.2 1 24.98183 KEEP 0 0 0 83 2978 GG 1 1 0 - 10 60 372 0 0 23.474796 256 60 9596 451 ENST00000263102.6 0.037594 1 ANK3 288 __UNKNOWN__ __UNKNOWN__ 10 61868716 61868716 __UNKNOWN__ Silent SNP C C A rs3750800 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:61868716C>A ENST00000280772.2 - 27 3236 c.3045G>T c.(3043-3045)acG>acT p.T1015T ANK3_ENST00000373827.2_Silent_p.T1009T|ANK3_ENST00000503366.1_Silent_p.T1016T|ANK3_ENST00000355288.2_Silent_p.T149T NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 1015 ZU5 1. {ECO:0000255|PROSITE- ProRule:PRU00485}. NA axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165) axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018) cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200) NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 GAGTGGGGGCCGTACACTTGC 0.542 NA C||| 897 0.179113 0.0272 0.2262 5008 , , NA 15374 0.0704 NA 0.3221 False NA ,,, NA NA NA 2504 0.316 NA NA NA NA 0 C ,,, 309,4097 168.0+/-198.9 12,285,1906 67 72 70 447,3027,3048,3045 -9.9 0.3 10 dbSNP_107 70 2807,5793 443.0+/-360.3 468,1871,1961 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous ANK3 NM_001149.3,NM_001204403.1,NM_001204404.1,NM_020987.3 ,,, 480,2156,3867 AA,AC,CC 32.6395,7.0132,23.9582 ,,, 149/1002,1009/1862,1016/1869,1015/4378 61868716 3116,9890 2203 4300 6503 SO:0001819 synonymous_variant U13616 CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1 10q21 2013-01-10 ENSG00000151150 ENSG00000151150 288 Ankyrin repeat domain containing 494 protein-coding gene gene with protein product ankyrin-3, node of Ranvier, ankyrin-G 600465 NA 7665168 Standard NM_020987 NM_020987 NA Approved uc001jky.3 Q12955 OTTHUMG00000018288 ENST00000280772.2:c.3045G>T chr10.hg19:g.61868716C>A NA B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5 hg19 CCDS7258.1 0.02 4.375646 GGCxGTA COVERED 392 0.1794871794871795 18 0.036585365853658534 97 0.26795580110497236 40 0.06993006993006994 237 0.31266490765171506 C 5.518 0.280589 0.10458 0.070132 0.326395 ENSG00000151150 ENST00000467420 . . . 6.04 -9.89 0.00464 . . . . . T 0.00012 0.0000 . . . 0.09310 P 0.9999999999999998 . . . . . . T 0.08638 -1.0712 3 . . . . 10.7989 0.46476 0.153:0.2378:0.0:0.6092 rs3750800;rs17803381;rs3750800 . . . L 40 . . R - 2 0 ANK3 61538722 0.000000 0.05858 0.333000 0.25482 0.987000 0.75469 -2.374000 0.01072 -2.001000 0.00964 -0.251000 0.11542 CGG NOVEL ANK3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000048201.4 0 6.922142 KEEP 0 0 0 23 787 CC 0.999892 0.999888 0 - 5 60 176 0 0 11.08118 109 60 3644 170 ENST00000280772.2 0.04386 0.999996 ANK3 288 __UNKNOWN__ __UNKNOWN__ 10 61941250 61941250 __UNKNOWN__ Intron SNP G G A rs10994246 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:61941250G>A ENST00000280772.2 - 18 2277 ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) NA NA axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165) axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018) cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200) NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 AGCCATGTTTGAGAAACCATT 0.433 NA G||| 653 0.130391 0.1241 0.1484 5008 , , NA 20368 0.2004 NA 0.0447 False NA ,,, NA NA NA 2504 0.1421 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U13616 CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1 10q21 2013-01-10 ENSG00000151150 ENSG00000151150 288 Ankyrin repeat domain containing 494 protein-coding gene gene with protein product ankyrin-3, node of Ranvier, ankyrin-G 600465 NA 7665168 Standard NM_020987 NM_020987 NA Approved uc001jky.3 Q12955 OTTHUMG00000018288 ENST00000280772.2:c.2086-65C>T chr10.hg19:g.61941250G>A NA B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5 hg19 CCDS7258.1 0.02 8.093993 TTTxAGA COVERED NOVEL ANK3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000048201.4 3 14.747588 KEEP 0 0 0 49 1729 GG 1 1 0 - 11 60 396 0 0 25.344074 235 60 9026 378 ENST00000280772.2 0.044715 1 RTKN2 219790 __UNKNOWN__ __UNKNOWN__ 10 63953973 63953973 __UNKNOWN__ 3'UTR SNP C C T rs10995079 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:63953973C>T ENST00000373789.3 - 0 5620 RTKN2_ENST00000315289.2_Intron|RTKN2_ENST00000395265.1_Intron NM_145307.2 NP_660350.2 Q8IZC4 RTKN2_HUMAN rhotekin 2 NA NA hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165) plasma membrane (GO:0005886) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Prostate(12;0.0297)|all_hematologic(501;0.215) CAAATGATGACTTGTCTTTTA 0.289 NA C||| 724 0.144569 0.0045 0.2522 5008 , , NA 17613 0.4018 NA 0.0467 False NA ,,, NA NA NA 2504 0.093 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC025765 CCDS7263.1, CCDS73140.1 10q21.3 2013-01-10 2007-12-14 2007-12-14 ENSG00000182010 ENSG00000182010 219790 Pleckstrin homology (PH) domain containing 19364 protein-coding gene gene with protein product pleckstrin homology domain containing, family K member 1 PLEKHK1 NA 15504364 Standard NM_145307 NM_001282941 NA Approved Em:AC024597.2, bA531F24.1, FLJ39352 uc001jlw.3 Q8IZC4 OTTHUMG00000018299 ENST00000373789.3:c.*3694G>A chr10.hg19:g.63953973C>T NA Q3ZCR1|Q68DZ6|Q8N8K1|Q8TAV2 hg19 CCDS7263.1 0.02 14.611372 TGAxTTG COVERED NOVEL RTKN2-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000091618.1 7 26.486963 KEEP 0 0 0 88 3193 CC 1 1 0 - 14 60 483 0 0 29.420212 339 60 12853 534 ENST00000373789.3 0.03966 1 NRBF2 29982 __UNKNOWN__ __UNKNOWN__ 10 64914372 64914372 __UNKNOWN__ 3'UTR SNP G G C rs13095 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:64914372G>C ENST00000277746.6 + 0 1439 NRBF2_ENST00000435510.2_3'UTR NM_030759.3 NP_110386.2 Q96F24 NRBF2_HUMAN nuclear receptor binding factor 2 NA NA gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367) cytoplasm (GO:0005737)|nucleoplasm (GO:0005654) large_intestine(2)|lung(3)|skin(1) 6 Prostate(12;0.0119)|all_hematologic(501;0.191) ATAATATGGTGGCCGGAGGGG 0.308 NA G||| 1958 0.390974 0.2859 0.3112 5008 , , NA 20010 0.3591 NA 0.4891 False NA ,,, NA NA NA 2504 0.5215 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D82519 CCDS7268.1, CCDS60537.1 10q22.1 2012-11-01 ENSG00000148572 ENSG00000148572 29982 19692 protein-coding gene gene with protein product comodulator of PPAR and RXR 1, comodulator of PPAR and RXR 2 NA 10786636 Standard NM_030759 NM_001282405 NA Approved DKFZp564C1664, FLJ30395, COPR1, COPR2 uc001jmj.4 Q96F24 OTTHUMG00000018309 ENST00000277746.6:c.*394G>C chr10.hg19:g.64914372G>C NA A6PW36|B4DWS0|Q86UR2|Q96NP6|Q9H0S9|Q9H2I2 hg19 CCDS7268.1 0.02 4.613753 GGTxGCC COVERED NOVEL NRBF2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000048247.1 1 2.708759 KEEP 0 0 0 9 313 GG 0.99254 0.992539 0 + 10 60 370 0 0 26.789241 111 60 4129 135 ENST00000277746.6 0.082645 0.999999 JMJD1C 221037 __UNKNOWN__ __UNKNOWN__ 10 64927823 64927823 __UNKNOWN__ Missense_Mutation SNP C C G rs1935 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:64927823C>G ENST00000399262.2 - 26 7823 c.7605G>C c.(7603-7605)gaG>gaC p.E2535D JMJD1C_ENST00000402544.1_Missense_Mutation_p.E2298D|JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000542921.1_Missense_Mutation_p.E2353D NM_032776.1 NP_116165.1 Q15652 JHD2C_HUMAN jumonji domain containing 1C 2535 NA E -> D (in dbSNP:rs1935). {ECO:0000269|PubMed:17974005}. blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) intracellular (GO:0005622)|nucleoplasm (GO:0005654) dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966) p.E2298D(2)|p.E2535D(1) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) CTTCCATATCCTCTACTTCAT 0.333 NA C||| 1964 0.392173 0.2859 0.3112 5008 , , NA 17437 0.3601 NA 0.4901 False NA ,,, NA NA NA 2504 0.5256 NA NA NA NA 3 Substitution - Missense(3) prostate(3) C ASP/GLU,ASP/GLU 1271,2471 208,855,808 174 159 164 6894,7605 3.6 1 10 dbSNP_36 164 3919,4275 952,2015,1130 yes missense,missense JMJD1C NM_004241.2,NM_032776.1 45,45 1160,2870,1938 GG,GC,CC 47.8277,33.9658,43.4819 probably-damaging,probably-damaging 2298/2304,2535/2541 64927823 5190,6746 1871 4097 5968 SO:0001583 missense L40411 CCDS41532.1, CCDS60538.1 10q22.1 2011-05-25 2004-03-31 2004-04-01 ENSG00000171988 ENSG00000171988 221037 12313 protein-coding gene gene with protein product 604503 thyroid hormone receptor interactor 8 TRIP8 NA 7776974 Standard NM_004241 XM_005269624 NA Approved DKFZp761F0118, KIAA1380, FLJ14374 uc001jmn.3 Q15652 OTTHUMG00000018311 ENST00000399262.2:c.7605G>C chr10.hg19:g.64927823C>G ENSP00000382204:p.Glu2535Asp NA A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7 hg19 CCDS41532.1 0.02 34.428136 ATCxTCT COVERED 852 0.3901098901098901 135 0.27439024390243905 134 0.3701657458563536 225 0.39335664335664333 358 0.47229551451187335 C 15.29 2.788518 0.49997 0.339658 0.478277 ENSG00000171988 ENST00000399262;ENST00000402544;ENST00000542921 T;T;T 0.55930 0.83;0.49;0.83 5.42 3.57 0.40892 . 0.117118 0.56097 D 0.000029 T 0.00012 0.0000 L 0.40543 1.245 0.09310 P 0.9999999999965508 B;B 0.32071 0.355;0.152 B;B 0.24974 0.057;0.021 T 0.47674 -0.9099 9 0.42905 T 0.14 -14.8807 5.1962 0.15239 0.0:0.6035:0.0:0.3965 rs1935;rs17574273;rs52815148;rs1935 2535;2353 Q15652;A0T124 JHD2C_HUMAN;. D 2535;2298;2353 ENSP00000382204:E2535D;ENSP00000384990:E2298D;ENSP00000444682:E2353D ENSP00000382204:E2535D E - 3 2 JMJD1C 64597829 0.484000 0.25964 1.000000 0.80357 0.998000 0.95712 -0.006000 0.12833 1.279000 0.44446 0.591000 0.81541 GAG NOVEL JMJD1C-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000048249.2 4 39.508108 KEEP 0 5 171 191 6900 CC 1 1 0 - 29 60 1016 0 0 61.408813 801 60 29964 1294 ENST00000399262.2 0.03494 1 JMJD1C 221037 __UNKNOWN__ __UNKNOWN__ 10 64936679 64936679 __UNKNOWN__ Intron SNP A A G rs386744619|rs907 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:64936679A>G ENST00000399262.2 - 24 7443 JMJD1C_ENST00000402544.1_Intron|JMJD1C_ENST00000399251.1_Intron|JMJD1C_ENST00000542921.1_Intron NM_032776.1 NP_116165.1 Q15652 JHD2C_HUMAN jumonji domain containing 1C NA NA blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) intracellular (GO:0005622)|nucleoplasm (GO:0005654) dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) ACCTTCTAACACTTGAAAAAT 0.294 NA G||| 3062 0.611422 0.4213 0.549 5008 , , NA 17767 0.6389 NA 0.7972 False NA ,,, NA NA NA 2504 0.6933 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L40411 CCDS41532.1, CCDS60538.1 10q22.1 2011-05-25 2004-03-31 2004-04-01 ENSG00000171988 ENSG00000171988 221037 12313 protein-coding gene gene with protein product 604503 thyroid hormone receptor interactor 8 TRIP8 NA 7776974 Standard NM_004241 XM_005269624 NA Approved DKFZp761F0118, KIAA1380, FLJ14374 uc001jmn.3 Q15652 OTTHUMG00000018311 ENST00000399262.2:c.7225-446T>C chr10.hg19:g.64936679A>G NA A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7 hg19 CCDS41532.1 0.02 5.238389 AACxCTT COVERED NOVEL JMJD1C-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000048249.2 7 4.182027 KEEP 0 2 69 38 1199 AA 1 1 0 - 8 60 264 0 0 16.366958 155 60 5715 234 ENST00000399262.2 0.04908 1 JMJD1C 221037 __UNKNOWN__ __UNKNOWN__ 10 64945364 64945364 __UNKNOWN__ Silent SNP G G A rs3211105 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:64945364G>A ENST00000399262.2 - 20 7007 c.6789C>T c.(6787-6789)gaC>gaT p.D2263D JMJD1C_ENST00000402544.1_Silent_p.D2026D|JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000542921.1_Silent_p.D2081D NM_032776.1 NP_116165.1 Q15652 JHD2C_HUMAN jumonji domain containing 1C 2263 NA blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) intracellular (GO:0005622)|nucleoplasm (GO:0005654) dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) CTGAAGGCCAGTCTTTCAATT 0.373 NA A||| 2910 0.58107 0.3139 0.5389 5008 , , NA 17630 0.6369 NA 0.7962 False NA ,,, NA NA NA 2504 0.6933 NA NA NA NA 0 A , 1533,2119 320,893,613 154 136 142 6078,6789 -7.7 0.7 10 dbSNP_105 142 6564,1606 2641,1282,162 no coding-synonymous,coding-synonymous JMJD1C NM_004241.2,NM_032776.1 , 2961,2175,775 AA,AG,GG 19.6573,41.977,31.5091 , 2026/2304,2263/2541 64945364 8097,3725 1826 4085 5911 SO:0001819 synonymous_variant L40411 CCDS41532.1, CCDS60538.1 10q22.1 2011-05-25 2004-03-31 2004-04-01 ENSG00000171988 ENSG00000171988 221037 12313 protein-coding gene gene with protein product 604503 thyroid hormone receptor interactor 8 TRIP8 NA 7776974 Standard NM_004241 XM_005269624 NA Approved DKFZp761F0118, KIAA1380, FLJ14374 uc001jmn.3 Q15652 OTTHUMG00000018311 ENST00000399262.2:c.6789C>T chr10.hg19:g.64945364G>A NA A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7 hg19 CCDS41532.1 0.02 8.319214 CCAxTCT COVERED 1331 0.6094322344322345 152 0.3089430894308943 221 0.6104972375690608 351 0.6136363636363636 607 0.8007915567282322 A 7.822 0.718083 0.15372 0.41977 0.803427 ENSG00000171988 ENST00000327520 . . . 5.71 -7.74 0.01241 . . . . . T 0.00012 0.0000 . . . 0.09310 P 0.9999999999995888 . . . . . . T 0.09509 -1.0671 3 . . . -18.0578 21.7453 0.99960 0.3105:0.0:0.6895:0.0 rs3211105;rs17414931;rs17655093;rs59282382;rs3211105 . . . I 810 . . T - 2 0 JMJD1C 64615370 0.117000 0.22190 0.722000 0.30670 0.947000 0.59692 -0.379000 0.07437 -1.694000 0.01425 -1.022000 0.02435 ACT NOVEL JMJD1C-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000048249.2 0 19.198317 KEEP 0 1 32 75 2716 GG 1 1 0 - 9 60 314 0 0 19.601205 200 60 7513 349 ENST00000399262.2 0.043062 1 JMJD1C 221037 __UNKNOWN__ __UNKNOWN__ 10 64974537 64974537 __UNKNOWN__ Missense_Mutation SNP A A T rs10761725 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:64974537A>T ENST00000399262.2 - 8 1608 c.1390T>A c.(1390-1392)Tcg>Acg p.S464T JMJD1C_ENST00000402544.1_Missense_Mutation_p.S245T|JMJD1C_ENST00000399251.1_Missense_Mutation_p.S245T|JMJD1C_ENST00000542921.1_Missense_Mutation_p.S282T NM_032776.1 NP_116165.1 Q15652 JHD2C_HUMAN jumonji domain containing 1C 464 NA S -> T (in dbSNP:rs10761725). {ECO:0000269|PubMed:17974005}. blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) intracellular (GO:0005622)|nucleoplasm (GO:0005654) dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) TGTTCTGACGAATGAATAATC 0.388 NA A||| 2561 0.511382 0.3154 0.4669 5008 , , NA 19020 0.377 NA 0.7783 False NA ,,, NA NA NA 2504 0.6718 NA NA NA NA 0 A THR/SER,THR/SER 1527,2181 311,905,638 164 148 153 733,1390 3.2 1 10 dbSNP_120 153 6382,1810 2482,1418,196 yes missense,missense JMJD1C NM_004241.2,NM_032776.1 58,58 2793,2323,834 TT,TA,AA 22.0947,41.1812,33.5378 benign,benign 245/2304,464/2541 64974537 7909,3991 1854 4096 5950 SO:0001583 missense L40411 CCDS41532.1, CCDS60538.1 10q22.1 2011-05-25 2004-03-31 2004-04-01 ENSG00000171988 ENSG00000171988 221037 12313 protein-coding gene gene with protein product 604503 thyroid hormone receptor interactor 8 TRIP8 NA 7776974 Standard NM_004241 XM_005269624 NA Approved DKFZp761F0118, KIAA1380, FLJ14374 uc001jmn.3 Q15652 OTTHUMG00000018311 ENST00000399262.2:c.1390T>A chr10.hg19:g.64974537A>T ENSP00000382204:p.Ser464Thr NA A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7 hg19 CCDS41532.1 0.02 10.689907 ACGxATG COVERED 1162 0.532051282051282 149 0.30284552845528456 190 0.5248618784530387 231 0.40384615384615385 592 0.7810026385224275 A 7.754 0.703933 0.15172 0.411812 0.779053 ENSG00000171988 ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921 T;T;T;T 0.14266 2.52;2.52;2.52;2.52 5.71 3.24 0.37175 . 0.365789 0.26967 N 0.021583 T 0.00012 0.0000 L 0.34521 1.04 0.80722 P 0.0 B;B 0.25007 0.116;0.094 B;B 0.21708 0.036;0.026 T 0.05582 -1.0876 9 0.30078 T 0.28 -4.5093 8.7222 0.34447 0.5488:0.3828:0.0684:0.0 rs10761725;rs52823266;rs10761725 464;282 Q15652;A0T124 JHD2C_HUMAN;. T 464;245;245;282 ENSP00000382204:S464T;ENSP00000384990:S245T;ENSP00000382195:S245T;ENSP00000444682:S282T ENSP00000382195:S245T S - 1 0 JMJD1C 64644543 0.631000 0.27164 0.958000 0.39756 0.721000 0.41392 0.761000 0.26489 0.951000 0.37770 0.459000 0.35465 TCG NOVEL JMJD1C-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000048249.2 0 11.337833 KEEP 0 3 101 73 2352 AA 1 1 0 - 15 60 538 0 0 35.86048 253 60 9086 399 ENST00000399262.2 0.05597 1 REEP3 221035 __UNKNOWN__ __UNKNOWN__ 10 65381740 65381740 __UNKNOWN__ 3'UTR SNP A A G rs7075302 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:65381740A>G ENST00000298249.4 + 0 2062 REEP3_ENST00000373758.4_3'UTR Q6NUK4 REEP3_HUMAN receptor accessory protein 3 NA NA mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|nuclear envelope organization (GO:0006998) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|microtubule (GO:0005874) endometrium(1)|large_intestine(2)|lung(3) 6 Prostate(12;0.0119)|all_hematologic(501;0.191) CCTGCACATTAGAAATTATTA 0.299 NA A||| 2675 0.534145 0.3949 0.6023 5008 , , NA 18284 0.5704 NA 0.5616 False NA ,,, NA NA NA 2504 0.6084 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC057832 CCDS44411.1 10q21.3 2011-01-05 2006-02-07 2006-02-07 ENSG00000165476 ENSG00000165476 221035 Receptor accessory proteins 23711 protein-coding gene gene with protein product 609348 chromosome 10 open reading frame 74 C10orf74 NA 16271481, 15550249 Standard NM_001001330 NM_001001330 NA Approved uc001jmt.3 Q6NUK4 OTTHUMG00000018318 ENST00000298249.4:c.*1111A>G chr10.hg19:g.65381740A>G NA Q5JQR5|Q5QGT2|Q6PEW8|Q6PJY4 hg19 0.02 4.538037 ATTxGAA COVERED NOVEL REEP3-001 KNOWN basic protein_coding NA protein_coding OTTHUMT00000048263.3 2 5.251546 KEEP 0 1 36 30 946 AA 0.999997 0.999997 0 + 8 60 295 0 0 19.978785 133 60 4870 198 ENST00000298249.4 0.056738 1 REEP3 221035 __UNKNOWN__ __UNKNOWN__ 10 65382328 65382328 __UNKNOWN__ 3'UTR SNP C C T rs3847327 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:65382328C>T ENST00000298249.4 + 0 2650 REEP3_ENST00000373758.4_3'UTR Q6NUK4 REEP3_HUMAN receptor accessory protein 3 NA NA mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|nuclear envelope organization (GO:0006998) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|microtubule (GO:0005874) endometrium(1)|large_intestine(2)|lung(3) 6 Prostate(12;0.0119)|all_hematologic(501;0.191) ATTTATATGACCTGGTACTAG 0.318 NA C||| 2674 0.533946 0.3949 0.6023 5008 , , NA 15603 0.5694 NA 0.5616 False NA ,,, NA NA NA 2504 0.6084 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC057832 CCDS44411.1 10q21.3 2011-01-05 2006-02-07 2006-02-07 ENSG00000165476 ENSG00000165476 221035 Receptor accessory proteins 23711 protein-coding gene gene with protein product 609348 chromosome 10 open reading frame 74 C10orf74 NA 16271481, 15550249 Standard NM_001001330 NM_001001330 NA Approved uc001jmt.3 Q6NUK4 OTTHUMG00000018318 ENST00000298249.4:c.*1699C>T chr10.hg19:g.65382328C>T NA Q5JQR5|Q5QGT2|Q6PEW8|Q6PJY4 hg19 0.02 4.009363 TGAxCTG COVERED NOVEL REEP3-001 KNOWN basic protein_coding NA protein_coding OTTHUMT00000048263.3 1 8.728532 KEEP 0 0 0 29 1029 CC 0.999997 0.999997 0 + 5 60 177 0 0 10.837127 128 60 4694 182 ENST00000298249.4 0.037594 1 REEP3 221035 __UNKNOWN__ __UNKNOWN__ 10 65384567 65384567 __UNKNOWN__ 3'UTR SNP A A G rs7089698 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:65384567A>G ENST00000298249.4 + 0 4889 REEP3_ENST00000373758.4_3'UTR Q6NUK4 REEP3_HUMAN receptor accessory protein 3 NA NA mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|nuclear envelope organization (GO:0006998) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|microtubule (GO:0005874) endometrium(1)|large_intestine(2)|lung(3) 6 Prostate(12;0.0119)|all_hematologic(501;0.191) CAATGAGTACAGAAATCCTCA 0.338 NA A||| 2675 0.534145 0.3949 0.6023 5008 , , NA 17592 0.5704 NA 0.5616 False NA ,,, NA NA NA 2504 0.6084 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC057832 CCDS44411.1 10q21.3 2011-01-05 2006-02-07 2006-02-07 ENSG00000165476 ENSG00000165476 221035 Receptor accessory proteins 23711 protein-coding gene gene with protein product 609348 chromosome 10 open reading frame 74 C10orf74 NA 16271481, 15550249 Standard NM_001001330 NM_001001330 NA Approved uc001jmt.3 Q6NUK4 OTTHUMG00000018318 ENST00000298249.4:c.*3938A>G chr10.hg19:g.65384567A>G NA Q5JQR5|Q5QGT2|Q6PEW8|Q6PJY4 hg19 0.02 6.727771 TACxGAA COVERED NOVEL REEP3-001 KNOWN basic protein_coding NA protein_coding OTTHUMT00000048263.3 0 7.157061 KEEP 0 1 35 36 1140 AA 1 1 0 + 11 60 388 0 0 26.215922 164 60 6155 246 ENST00000298249.4 0.062857 1 HERC4 26091 __UNKNOWN__ __UNKNOWN__ 10 69792721 69792721 __UNKNOWN__ Intron SNP T T C rs3758393 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:69792721T>C ENST00000395198.3 - 7 933 HERC4_ENST00000412272.2_Intron|HERC4_ENST00000373700.4_Intron|HERC4_ENST00000277817.6_Intron|HERC4_ENST00000395187.2_Intron NM_022079.2 NP_071362.1 Q5GLZ8 HERC4_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 4 NA NA cell differentiation (GO:0030154)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|spermatogenesis (GO:0007283) cytoplasm (GO:0005737)|nucleus (GO:0005634) ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842) NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 27 AGTAGATAGTTGTGACTAAAT 0.343 NA T||| 495 0.0988419 0.0416 0.0965 5008 , , NA 17528 0.13 NA 0.1203 False NA ,,, NA NA NA 2504 0.1237 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY221963 CCDS7274.1, CCDS41533.1, CCDS60541.1, CCDS60542.1 10q21.3 2013-09-20 2012-02-23 ENSG00000148634 ENSG00000148634 26091 24521 protein-coding gene gene with protein product 609248 hect domain and RLD 4 NA 10997877 Standard NM_015601 NM_022079 NA Approved DKFZP564G092, KIAA1593 uc001jng.4 Q5GLZ8 OTTHUMG00000018343 ENST00000395198.3:c.686-95A>G chr10.hg19:g.69792721T>C NA Q5GC98|Q5GC99|Q5GCA0|Q8IXP9|Q9HCH9 hg19 CCDS41533.1 0.02 1.891679 AGTxGTG COVERED NOVEL HERC4-009 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000359262.1 1 3.310245 KEEP 0 0 0 11 359 TT 0.993072 0.988789 0 - 6 60 203 0 0 14.352349 62 60 2305 93 ENST00000395198.3 0.088235 0.995687 MYPN 84665 __UNKNOWN__ __UNKNOWN__ 10 69970895 69970895 __UNKNOWN__ 3'UTR SNP G G C rs876489 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:69970895G>C ENST00000358913.5 + 0 5134 MYPN_ENST00000354393.2_3'UTR|MYPN_ENST00000540630.1_3'UTR NM_001256267.1|NM_032578.3 NP_001243196.1|NP_115967.2 Q86TC9 MYPN_HUMAN myopalladin NA NA sarcomere organization (GO:0045214) I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018) cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124) breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5) 94 GGCCTTACCAGCTTGTCTGCA 0.378 NA G||| 1795 0.358427 0.1452 0.2997 5008 , , NA 22529 0.6558 NA 0.3439 False NA ,,, NA NA NA 2504 0.3967 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL834247 CCDS7275.1, CCDS73142.1 10q22.1 2014-09-17 ENSG00000138347 ENSG00000138347 84665 Immunoglobulin superfamily / I-set domain containing 23246 protein-coding gene gene with protein product sarcomeric protein myopalladin, 145 kDa 608517 NA 11309420, 12482578 Standard NM_032578 NM_032578 NA Approved MYOP uc001jnm.5 Q86TC9 OTTHUMG00000018344 ENST00000358913.5:c.*683G>C chr10.hg19:g.69970895G>C NA Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5 hg19 CCDS7275.1 0.02 6.798013 CCAxCTT COVERED NOVEL MYPN-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000048307.1 1 8.427791 KEEP 0 0 0 28 1019 GG 0.999997 0.999997 0 + 7 60 261 0 0 16.82662 160 60 5979 231 ENST00000358913.5 0.041916 1 MYPN 84665 __UNKNOWN__ __UNKNOWN__ 10 69971585 69971585 __UNKNOWN__ 3'UTR SNP G G A rs881975 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:69971585G>A ENST00000358913.5 + 0 5824 NM_001256267.1|NM_032578.3 NP_001243196.1|NP_115967.2 Q86TC9 MYPN_HUMAN myopalladin NA NA sarcomere organization (GO:0045214) I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018) cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124) breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5) 94 TCTAGGCTGTGCAGGGAAATG 0.478 NA G||| 1813 0.362021 0.1566 0.3026 5008 , , NA 18489 0.6567 NA 0.3439 False NA ,,, NA NA NA 2504 0.3967 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL834247 CCDS7275.1, CCDS73142.1 10q22.1 2014-09-17 ENSG00000138347 ENSG00000138347 84665 Immunoglobulin superfamily / I-set domain containing 23246 protein-coding gene gene with protein product sarcomeric protein myopalladin, 145 kDa 608517 NA 11309420, 12482578 Standard NM_032578 NM_032578 NA Approved MYOP uc001jnm.5 Q86TC9 OTTHUMG00000018344 ENST00000358913.5:c.*1373G>A chr10.hg19:g.69971585G>A NA Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5 hg19 CCDS7275.1 0.02 6.034956 TGTxCAG COVERED NOVEL MYPN-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000048307.1 0 3.545239 KEEP 0 1 26 21 754 GG 0.999879 0.999879 0 + 7 60 250 0 0 15.802231 156 60 5868 215 ENST00000358913.5 0.042945 1 RUFY2 55680 __UNKNOWN__ __UNKNOWN__ 10 70144943 70144943 __UNKNOWN__ Intron SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:70144943C>T ENST00000602465.1 - 8 821 RUFY2_ENST00000454950.2_Intron|RUFY2_ENST00000388768.2_Intron|RUFY2_ENST00000472394.2_Intron|RUFY2_ENST00000399200.2_Intron Q8WXA3 RUFY2_HUMAN RUN and FYVE domain containing 2 NA NA nucleus (GO:0005634) metal ion binding (GO:0046872) NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2) 20 atcgcttgcacctgggaggcg 0.517 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF461266 CCDS41534.1, CCDS44414.1, CCDS60544.1 10q22.2 2007-01-29 ENSG00000204130 ENSG00000204130 55680 Zinc fingers, FYVE domain containing 19761 protein-coding gene gene with protein product 610328 NA 11877430 Standard NM_017987 NM_001042417 NA Approved RABIP4R, FLJ10063, KIAA1537, ZFYVE13 uc001job.3 Q8WXA3 OTTHUMG00000018353 ENST00000602465.1:c.720+872G>A chr10.hg19:g.70144943C>T NA B3KXB2|B4DFR0|Q5TC48|Q8IW33|Q96P51|Q9P1Z1 hg19 0.02 -0.087727 GCAxCTG UNCOVERED NOVEL RUFY2-010 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000467567.1 2 3.912872 KEEP 2 0 0 13 467 CC 0.993072 0.09903 0 - 2 24 75 0 0 6.383975 7 60 237 30 ENST00000602465.1 0.222222 0.099721 TET1 80312 __UNKNOWN__ __UNKNOWN__ 10 70392578 70392578 __UNKNOWN__ Intron SNP T T A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:70392578T>A ENST00000373644.4 + 4 2177 NM_030625.2 NP_085128.2 Q8NFU7 TET1_HUMAN tet methylcytosine dioxygenase 1 NA NA chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270) breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2) 21 ATCAAGTAAATAAAGTTTAAG 0.284 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF430147 CCDS7281.1 10q21 2014-02-18 2011-09-30 2008-03-12 ENSG00000138336 ENSG00000138336 80312 29484 protein-coding gene gene with protein product leukemia-associated protein with a CXXC domain, ten-eleven translocation-1 607790 CXXC zinc finger 6, tet oncogene 1 CXXC6 NA 12124344, 12646957 Standard NM_030625 NM_030625 NA Approved LCX, KIAA1676, bA119F7.1 uc001jok.4 Q8NFU7 OTTHUMG00000018359 ENST00000373644.4:c.1969-11877T>A chr10.hg19:g.70392578T>A NA Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7 hg19 CCDS7281.1 0.02 2.560224 AAAxAAA COVERED NOVEL TET1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000048354.1 0 6.26678 KEEP 0 1 8 24 700 TT 0.999931 0.999929 0 + 12 60 204 0 0 9.878074 105 60 3349 173 ENST00000373644.4 0.102564 0.999998 DDX21 9188 __UNKNOWN__ __UNKNOWN__ 10 70725128 70725128 __UNKNOWN__ Intron SNP A A G rs3898314 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:70725128A>G ENST00000354185.4 + 5 884 NM_001256910.1|NM_004728.3 NP_001243839.1|NP_004719.2 Q9NR30 DDX21_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 21 NA NA ATP catabolic process (GO:0006200)|osteoblast differentiation (GO:0001649)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615) membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634) ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822) p.?(1) breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 20 ATTTTTCTTTATCAGGTACTG 0.353 NA A||| 1426 0.284744 0.1263 0.3127 5008 , , NA 17965 0.5605 NA 0.1581 False NA ,,, NA NA NA 2504 0.3252 NA NA NA NA 1 Unknown(1) stomach(1) A 563,3843 249.3+/-256.8 46,471,1686 75 74 75 1.4 0.2 10 dbSNP_108 75 1376,7224 268.3+/-287.8 117,1142,3041 no intron DDX21 NM_004728.2 163,1613,4727 GG,GA,AA 16.0,12.778,14.9085 70725128 1939,11067 2203 4300 6503 SO:0001627 intron_variant U41387 CCDS31211.1, CCDS73144.1 10q21 2013-05-13 2012-02-23 ENSG00000165732 ENSG00000165732 9188 DEAD-boxes 2744 protein-coding gene gene with protein product 606357 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 21, DEAD (Asp-Glu-Ala-Asp) box polypeptide 21 NA 8614622, 18180292 Standard NM_004728 NM_004728 NA Approved RH-II/GU, GURDB uc001jov.2 Q9NR30 OTTHUMG00000018366 ENST00000354185.4:c.787-5A>G chr10.hg19:g.70725128A>G NA B2RDL0|Q13436|Q5VX41|Q68D35 hg19 CCDS31211.1 0.02 6.617225 TTTxTCA COVERED NOVEL DDX21-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000048374.1 2 12.638555 KEEP 0 0 0 42 1323 AA 1 1 0 + 11 60 422 0 0 28.977884 188 60 6742 284 ENST00000354185.4 0.055276 1 DDX21 9188 __UNKNOWN__ __UNKNOWN__ 10 70733266 70733266 __UNKNOWN__ Intron SNP T T G rs5030899 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:70733266T>G ENST00000354185.4 + 10 1646 NM_001256910.1|NM_004728.3 NP_001243839.1|NP_004719.2 Q9NR30 DDX21_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 21 NA NA ATP catabolic process (GO:0006200)|osteoblast differentiation (GO:0001649)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615) membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634) ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822) breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 20 CTCTCTTTTTTGGTTTAGTGT 0.473 NA T||| 1416 0.282748 0.118 0.3112 5008 , , NA 18048 0.5615 NA 0.159 False NA ,,, NA NA NA 2504 0.3252 NA NA NA NA 0 T 491,3915 39,413,1751 42 43 42 -0.4 0 10 dbSNP_113 42 1277,7323 118,1041,3141 no intron DDX21 NM_004728.2 157,1454,4892 GG,GT,TT 14.8488,11.1439,13.5937 70733266 1768,11238 2203 4300 6503 SO:0001627 intron_variant U41387 CCDS31211.1, CCDS73144.1 10q21 2013-05-13 2012-02-23 ENSG00000165732 ENSG00000165732 9188 DEAD-boxes 2744 protein-coding gene gene with protein product 606357 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 21, DEAD (Asp-Glu-Ala-Asp) box polypeptide 21 NA 8614622, 18180292 Standard NM_004728 NM_004728 NA Approved RH-II/GU, GURDB uc001jov.2 Q9NR30 OTTHUMG00000018366 ENST00000354185.4:c.1549-35T>G chr10.hg19:g.70733266T>G NA B2RDL0|Q13436|Q5VX41|Q68D35 hg19 CCDS31211.1 0.02 3.94794 TTTxGGT COVERED NOVEL DDX21-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000048374.1 1 5.716769 KEEP 0 0 0 19 574 TT 0.99986 0.99986 0 + 8 60 277 0 0 18.310696 132 60 4764 191 ENST00000354185.4 0.057143 1 DDX21 9188 __UNKNOWN__ __UNKNOWN__ 10 70744773 70744773 __UNKNOWN__ 3'UTR SNP A A G rs186318192 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:70744773A>G ENST00000354185.4 + 0 4655 NM_001256910.1|NM_004728.3 NP_001243839.1|NP_004719.2 Q9NR30 DDX21_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 21 NA NA ATP catabolic process (GO:0006200)|osteoblast differentiation (GO:0001649)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615) membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634) ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822) breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 20 CTATAAAATGAGCTAATGTAT 0.249 NA A||| 17 0.00339457 0.0 0.0 5008 , , NA 13879 0.0169 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U41387 CCDS31211.1, CCDS73144.1 10q21 2013-05-13 2012-02-23 ENSG00000165732 ENSG00000165732 9188 DEAD-boxes 2744 protein-coding gene gene with protein product 606357 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 21, DEAD (Asp-Glu-Ala-Asp) box polypeptide 21 NA 8614622, 18180292 Standard NM_004728 NM_004728 NA Approved RH-II/GU, GURDB uc001jov.2 Q9NR30 OTTHUMG00000018366 ENST00000354185.4:c.*2205A>G chr10.hg19:g.70744773A>G NA B2RDL0|Q13436|Q5VX41|Q68D35 hg19 CCDS31211.1 0.02 2.06818 ATGxGCT COVERED NOVEL DDX21-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000048374.1 2 13.241557 KEEP 0 0 0 44 1446 AA 1 0.999407 0 + 4 60 151 0 0 10.069323 78 60 2943 176 ENST00000354185.4 0.04878 0.999407 HKDC1 80201 __UNKNOWN__ __UNKNOWN__ 10 70992664 70992664 __UNKNOWN__ Missense_Mutation SNP C C T rs874556 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:70992664C>T ENST00000354624.5 + 3 504 c.371C>T c.(370-372)aCa>aTa p.T124I HKDC1_ENST00000395086.2_Missense_Mutation_p.T124I NM_025130.3 NP_079406 Q2TB90 HKDC1_HUMAN hexokinase domain containing 1 124 Hexokinase type-1 1. NA T -> I (in dbSNP:rs874556). carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318) cytosol (GO:0005829) ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 GGGAACGGCACAGAGGTACCT 0.577 NA C||| 2674 0.533946 0.5545 0.4539 5008 , , NA 19703 0.7361 NA 0.4135 False NA ,,, NA NA NA 2504 0.4785 NA NA NA NA 0 C ILE/THR 2330,2076 605.6+/-390.6 624,1082,497 149 132 138 371 1.7 0 10 dbSNP_86 138 3568,5032 518.8+/-379.3 770,2028,1502 yes missense HKDC1 NM_025130.3 89 1394,3110,1999 TT,TC,CC 41.4884,47.1176,45.3483 benign 124/918 70992664 5898,7108 2203 4300 6503 SO:0001583 missense CCDS7288.1 10q22.1 2006-10-24 ENSG00000156510 ENSG00000156510 80201 23302 protein-coding gene gene with protein product NA 12477932 Standard NM_025130 NM_025130 NA Approved FLJ37767, FLJ22761 uc001jpf.4 Q2TB90 OTTHUMG00000018371 ENST00000354624.5:c.371C>T chr10.hg19:g.70992664C>T ENSP00000346643:p.Thr124Ile NA B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9 hg19 CCDS7288.1 0.02 11.499813 GCAxAGA COVERED 1194 0.5467032967032966 288 0.5853658536585366 147 0.40607734806629836 442 0.7727272727272727 317 0.4182058047493404 C 12.55 1.972198 0.34754 0.528824 0.414884 ENSG00000156510 ENST00000354624;ENST00000395087;ENST00000395086 D;D 0.99042 -5.36;-5.36 4.6 1.69 0.24217 Hexokinase, N-terminal (1); 0.820588 0.11075 N 0.602464 T 0.00012 0.0000 L 0.57536 1.79 0.80722 P 0.0 B 0.02656 0.0 B 0.04013 0.001 T 0.44190 -0.9344 9 0.44086 T 0.13 0.2826 5.6728 0.17731 0.2742:0.5743:0.0:0.1514 rs874556;rs11555769;rs17475150;rs52817419;rs57880774;rs874556 124 Q2TB90 HKDC1_HUMAN I 124 ENSP00000346643:T124I;ENSP00000378521:T124I ENSP00000346643:T124I T + 2 0 HKDC1 70662670 0.000000 0.05858 0.001000 0.08648 0.226000 0.24999 1.080000 0.30779 0.168000 0.19655 0.561000 0.74099 ACA NOVEL HKDC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000048389.1 1 17.156187 KEEP 0 0 0 57 2043 CC 1 1 0 + 9 60 316 0 0 18.062446 314 60 11898 462 ENST00000354624.5 0.027864 1 HKDC1 80201 __UNKNOWN__ __UNKNOWN__ 10 71016947 71016947 __UNKNOWN__ Intron SNP C C G rs2279930 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:71016947C>G ENST00000354624.5 + 13 2065 HKDC1_ENST00000395086.2_Intron NM_025130.3 NP_079406 Q2TB90 HKDC1_HUMAN hexokinase domain containing 1 NA NA carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318) cytosol (GO:0005829) ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 CCCCTCTGCTCTGCCATCCTC 0.542 NA c||| 1706 0.340655 0.1619 0.4986 5008 , , NA 21164 0.5575 NA 0.3569 False NA ,,, NA NA NA 2504 0.2301 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS7288.1 10q22.1 2006-10-24 ENSG00000156510 ENSG00000156510 80201 23302 protein-coding gene gene with protein product NA 12477932 Standard NM_025130 NM_025130 NA Approved FLJ37767, FLJ22761 uc001jpf.4 Q2TB90 OTTHUMG00000018371 ENST00000354624.5:c.1932+60C>G chr10.hg19:g.71016947C>G NA B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9 hg19 CCDS7288.1 0.02 4.420486 GCTxTGC COVERED NOVEL HKDC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000048389.1 2 5.116442 KEEP 0 0 0 17 586 CC 0.999366 0.999366 0 + 10 60 379 0 0 26.933747 133 60 5060 181 ENST00000354624.5 0.06993 1 HKDC1 80201 __UNKNOWN__ __UNKNOWN__ 10 71026510 71026510 __UNKNOWN__ Missense_Mutation SNP C C A rs906219 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:71026510C>A ENST00000354624.5 + 18 2884 c.2751C>A c.(2749-2751)aaC>aaA p.N917K RP11-227H15.5_ENST00000413220.1_RNA NM_025130.3 NP_079406 Q2TB90 HKDC1_HUMAN hexokinase domain containing 1 917 NA N -> K (in dbSNP:rs906219). carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318) cytosol (GO:0005829) ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 AGAAGGAGAACTAGGAACCCC 0.522 NA C||| 1684 0.336262 0.1104 0.4914 5008 , , NA 18300 0.5942 NA 0.3559 False NA ,,, NA NA NA 2504 0.2454 NA NA NA NA 0 C LYS/ASN 687,3719 288.4+/-279.8 61,565,1577 127 107 114 2751 0.7 0 10 dbSNP_86 114 3039,5561 469.0+/-367.5 513,2013,1774 yes missense HKDC1 NM_025130.3 94 574,2578,3351 AA,AC,CC 35.3372,15.5924,28.6483 benign 917/918 71026510 3726,9280 2203 4300 6503 SO:0001583 missense CCDS7288.1 10q22.1 2006-10-24 ENSG00000156510 ENSG00000156510 80201 23302 protein-coding gene gene with protein product NA 12477932 Standard NM_025130 NM_025130 NA Approved FLJ37767, FLJ22761 uc001jpf.4 Q2TB90 OTTHUMG00000018371 ENST00000354624.5:c.2751C>A chr10.hg19:g.71026510C>A ENSP00000346643:p.Asn917Lys NA B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9 hg19 CCDS7288.1 0.02 34.643298 GAAxTAG COVERED 790 0.3617216117216117 47 0.09552845528455285 156 0.430939226519337 316 0.5524475524475524 271 0.3575197889182058 C 13.21 2.169602 0.38315 0.155924 0.353372 ENSG00000156510 ENST00000354624 D 0.97041 -4.22 4.81 0.702 0.18110 . 0.780610 0.11363 N 0.571730 T 0.00012 0.0000 N 0.08118 0 0.54753 P 1.799999999996249E-5 B 0.02656 0.0 B 0.01281 0.0 T 0.33343 -0.9872 9 0.66056 D 0.02 . 4.5356 0.12026 0.3945:0.4123:0.1186:0.0746 rs906219;rs52823840;rs61560703;rs906219 917 Q2TB90 HKDC1_HUMAN K 917 ENSP00000346643:N917K ENSP00000346643:N917K N + 3 2 HKDC1 70696516 0.998000 0.40836 0.034000 0.17996 0.482000 0.33219 0.590000 0.23954 0.029000 0.15352 0.655000 0.94253 AAC NOVEL HKDC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000048389.1 3 18.058201 KEEP 0 0 0 60 2136 CC 1 1 0 + 38 60 1375 0 0 88.698701 790 60 29889 1075 ENST00000354624.5 0.045894 1 HK1 3098 __UNKNOWN__ __UNKNOWN__ 10 71142183 71142183 __UNKNOWN__ Intron SNP G G A rs4746846 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:71142183G>A ENST00000359426.6 + 10 1369 HK1_ENST00000404387.2_Intron|HK1_ENST00000448642.2_Intron|HK1_ENST00000494253.1_Intron|HK1_ENST00000360289.2_Intron|HK1_ENST00000298649.3_Intron NM_000188.2 NP_000179.2 P19367 HXK1_HUMAN hexokinase 1 NA NA carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cell death (GO:0008219)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085) cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739) ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158) breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2) 35 AAGGGTGGCCGGAGGTCCCCA 0.507 NA A||| 1454 0.290335 0.1747 0.4092 5008 , , NA 19105 0.497 NA 0.1938 False NA ,,, NA NA NA 2504 0.2485 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M75126 CCDS7289.1, CCDS7290.1, CCDS7291.1, CCDS7292.1 10q22 2014-09-17 ENSG00000156515 ENSG00000156515 3098 2.7.1.1 4922 protein-coding gene gene with protein product 142600 NA Standard NM_000188 NM_033496 NA Approved uc001jpi.4 P19367 OTTHUMG00000018380 ENST00000359426.6:c.1266-60G>A chr10.hg19:g.71142183G>A NA E9PCK0|O43443|O43444|O75574|Q5VTC3|Q96HC8|Q9NNZ4|Q9NNZ5 hg19 CCDS7292.1 0.02 6.90938 GCCxGAG COVERED NOVEL HK1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000048429.2 5 11.135861 KEEP 0 0 0 37 1290 GG 1 1 0 + 12 60 451 0 0 31.121651 188 60 6233 295 ENST00000359426.6 0.06 1 TACR2 6865 __UNKNOWN__ __UNKNOWN__ 10 71168727 71168727 __UNKNOWN__ Missense_Mutation SNP C C T rs77038916 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:71168727C>T ENST00000373306.4 - 3 1235 c.692G>A c.(691-693)gGa>gAa p.G231E TACR2_ENST00000373307.1_Missense_Mutation_p.G19E NM_001057.2 NP_001048.2 P21452 NK2R_HUMAN tachykinin receptor 2 231 NA excretion (GO:0007588)|intestine smooth muscle contraction (GO:0014827)|muscle contraction (GO:0006936)|negative regulation of luteinizing hormone secretion (GO:0033685)|operant conditioning (GO:0035106)|positive regulation of acetylcholine secretion, neurotransmission (GO:0014057)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vascular permeability (GO:0043117)|prolactin secretion (GO:0070459)|tachykinin receptor signaling pathway (GO:0007217) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) substance K receptor activity (GO:0016497)|tachykinin receptor activity (GO:0004995) endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 11 CGCCTGATGTCCGGGCACTGC 0.706 NA C||| 634 0.126597 0.0008 0.2378 5008 , , NA 8170 0.4196 NA 0.001 False NA ,,, NA NA NA 2504 0.045 NA NA NA NA 0 C GLU/GLY 29,4375 0,29,2173 32 31 31 692 4.9 0.1 10 dbSNP_131 31 18,8582 0,18,4282 yes missense TACR2 NM_001057.2 98 0,47,6455 TT,TC,CC 0.2093,0.6585,0.3614 probably-damaging 231/399 71168727 47,12957 2202 4300 6502 SO:0001583 missense CCDS7293.1 10q22.1 2012-09-20 ENSG00000075073 ENSG00000075073 6865 GPCR / Class A : Tachykinin receptors 11527 protein-coding gene gene with protein product 162321 TAC2R, NKNAR NA Standard NM_001057 NA Approved SKR, NK2R uc001jpn.2 P21452 OTTHUMG00000018377 ENST00000373306.4:c.692G>A chr10.hg19:g.71168727C>T ENSP00000362403:p.Gly231Glu NA A8K7I1|Q4QRI5|Q8NGQ8|Q9UDE6|Q9UDE7 hg19 CCDS7293.1 0.02 4.372269 TGTxCGG COVERED 309 0.14148351648351648 1 0.0020325203252032522 55 0.15193370165745856 252 0.4405594405594406 1 0.0013192612137203166 C 28.3 4.904073 0.92035 0.006585 0.002093 ENSG00000075073 ENST00000373307;ENST00000373306 T;T 0.37058 1.22;1.22 4.88 4.88 0.63580 GPCR, rhodopsin-like superfamily (1); 0.183449 0.45606 D 0.000352 T 0.00012 0.0000 M 0.88105 2.93 0.09310 P 0.99999745876 D 0.89917 1.0 D 0.75020 0.985 T 0.33163 -0.9879 9 0.87932 D 0 . 18.411 0.90550 0.0:1.0:0.0:0.0 . 231 P21452 NK2R_HUMAN E 19;231 ENSP00000362404:G19E;ENSP00000362403:G231E ENSP00000362403:G231E G - 2 0 TACR2 70838733 0.997000 0.39634 0.095000 0.20976 0.708000 0.40852 4.729000 0.62008 2.426000 0.82243 0.561000 0.74099 GGA NOVEL TACR2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000048411.1 0 34.308692 KEEP 0 0 0 114 3940 CC 1 0.999978 0 - 8 60 291 0 0 20.706662 95 70 3502 301 ENST00000373306.4 0.07767 0.999978 NEUROG3 50674 __UNKNOWN__ __UNKNOWN__ 10 71331569 71331569 __UNKNOWN__ 3'UTR SNP C C T rs10998861 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:71331569C>T ENST00000242462.4 - 0 1260 NM_020999.3 NP_066279.2 Q9Y4Z2 NGN3_HUMAN neurogenin 3 NA NA central nervous system development (GO:0007417)|endocrine pancreas development (GO:0031018)|epithelial cell differentiation (GO:0030855)|forebrain development (GO:0030900)|hindbrain development (GO:0030902)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|peripheral nervous system development (GO:0007422)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of dendrite morphogenesis (GO:0048814)|spinal cord development (GO:0021510)|transdifferentiation (GO:0060290) cytoplasm (GO:0005737)|nucleus (GO:0005634) chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription coactivator activity (GO:0003713) endometrium(4)|large_intestine(2)|lung(6)|prostate(1) 13 TCTTCCGCCCCGGGAGGGCAA 0.637 NA C||| 377 0.0752796 0.0272 0.0908 5008 , , NA 14872 0.1458 NA 0.0586 False NA ,,, NA NA NA 2504 0.0736 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ133776 CCDS31212.1 10q21.3 2013-05-21 ENSG00000122859 ENSG00000122859 50674 Basic helix-loop-helix proteins 13806 protein-coding gene gene with protein product 604882 NA 9000438, 10677506 Standard NM_020999 NM_020999 NA Approved Atoh5, Math4B, ngn3, bHLHa7 uc001jpp.3 Q9Y4Z2 OTTHUMG00000018391 ENST00000242462.4:c.*586G>A chr10.hg19:g.71331569C>T NA Q5VVI0|Q6DJX6|Q9BY24 hg19 CCDS31212.1 0.02 1.719479 CCCxGGG COVERED NOVEL NEUROG3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000048464.1 0 3.31021 KEEP 0 0 0 11 361 CC 0.993072 0.993029 0 - 7 60 252 0 0 17.560102 92 60 3264 125 ENST00000242462.4 0.070707 0.999956 NEUROG3 50674 __UNKNOWN__ __UNKNOWN__ 10 71331645 71331645 __UNKNOWN__ 3'UTR SNP C C T rs10823408 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:71331645C>T ENST00000242462.4 - 0 1184 NM_020999.3 NP_066279.2 Q9Y4Z2 NGN3_HUMAN neurogenin 3 NA NA central nervous system development (GO:0007417)|endocrine pancreas development (GO:0031018)|epithelial cell differentiation (GO:0030855)|forebrain development (GO:0030900)|hindbrain development (GO:0030902)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|peripheral nervous system development (GO:0007422)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of dendrite morphogenesis (GO:0048814)|spinal cord development (GO:0021510)|transdifferentiation (GO:0060290) cytoplasm (GO:0005737)|nucleus (GO:0005634) chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription coactivator activity (GO:0003713) endometrium(4)|large_intestine(2)|lung(6)|prostate(1) 13 CAGAGTGAGGCGCCCTGAAAT 0.577 NA C||| 376 0.0750799 0.0272 0.0893 5008 , , NA 16727 0.1458 NA 0.0586 False NA ,,, NA NA NA 2504 0.0736 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ133776 CCDS31212.1 10q21.3 2013-05-21 ENSG00000122859 ENSG00000122859 50674 Basic helix-loop-helix proteins 13806 protein-coding gene gene with protein product 604882 NA 9000438, 10677506 Standard NM_020999 NM_020999 NA Approved Atoh5, Math4B, ngn3, bHLHa7 uc001jpp.3 Q9Y4Z2 OTTHUMG00000018391 ENST00000242462.4:c.*510G>A chr10.hg19:g.71331645C>T NA Q5VVI0|Q6DJX6|Q9BY24 hg19 CCDS31212.1 0.02 6.379476 AGGxGCC COVERED NOVEL NEUROG3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000048464.1 3 5.718363 KEEP 0 0 0 19 662 CC 0.99986 0.99986 0 - 11 60 373 0 0 25.227415 147 60 5188 221 ENST00000242462.4 0.06962 1 COL13A1 1305 __UNKNOWN__ __UNKNOWN__ 10 71640255 71640255 __UNKNOWN__ Intron SNP G G A rs2395272 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:71640255G>A ENST00000398978.3 + 6 927 COL13A1_ENST00000398974.3_Intron|COL13A1_ENST00000398969.3_Intron|COL13A1_ENST00000354547.3_Intron|COL13A1_ENST00000398968.3_Intron|COL13A1_ENST00000398964.3_Intron|COL13A1_ENST00000520267.1_Intron|COL13A1_ENST00000398971.3_Intron|COL13A1_ENST00000398966.3_Intron|COL13A1_ENST00000520133.1_Intron|COL13A1_ENST00000522165.1_Intron|COL13A1_ENST00000357811.3_Intron|COL13A1_ENST00000356340.3_Intron|COL13A1_ENST00000398972.3_Intron|COL13A1_ENST00000517713.1_Intron|COL13A1_ENST00000398973.3_Intron NM_001130103.1 NP_001123575.1 collagen, type XIII, alpha 1 NA NA p.?(1) endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 28 ctctctcccCGCAGGGGTCCC 0.652 NA G||| 1462 0.291933 0.2322 0.2435 5008 , , NA 15511 0.4613 NA 0.164 False NA ,,, NA NA NA 2504 0.364 NA NA NA NA 1 Unknown(1) stomach(1) G ,,,,, 894,2740 107,680,1030 31 32 32 ,,,,, 3.1 0.9 10 dbSNP_100 32 1137,7011 81,975,3018 no intron,intron,intron,intron,intron,intron COL13A1 NM_001130103.1,NM_080798.3,NM_080800.3,NM_080801.3,NM_080802.3,NM_080805.3 ,,,,, 188,1655,4048 AA,AG,GG 13.9543,24.601,17.2382 ,,,,, ,,,,, 71640255 2031,9751 1817 4074 5891 SO:0001627 intron_variant AJ293624 CCDS44419.1, CCDS44423.1, CCDS44424.1, CCDS44425.1, CCDS44427.1, CCDS44428.1, CCDS44423.2, CCDS44424.2, CCDS44425.2, CCDS44427.2, CCDS44428.2 10q22 2013-01-16 ENSG00000197467 ENSG00000197467 1305 Collagens 2190 protein-coding gene gene with protein product 120350 NA Standard NM_005203 NM_001130103 NA Approved uc001jql.3 Q5TAT6 OTTHUMG00000018394 ENST00000398978.3:c.436-4G>A chr10.hg19:g.71640255G>A NA hg19 CCDS44419.1 0.02 2.252554 CCCxCAG COVERED NOVEL COL13A1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000048468.1 3 9.631631 KEEP 0 0 0 32 1152 GG 0.999997 0.98954 0 + 4 60 149 0 0 10.398547 57 60 1992 131 ENST00000398978.3 0.065574 0.989542 COL13A1 1305 __UNKNOWN__ __UNKNOWN__ 10 71655443 71655443 __UNKNOWN__ Intron SNP G G A rs1227744 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:71655443G>A ENST00000398978.3 + 12 1149 COL13A1_ENST00000398974.3_Intron|COL13A1_ENST00000398969.3_Intron|COL13A1_ENST00000354547.3_Intron|COL13A1_ENST00000398968.3_Intron|COL13A1_ENST00000398964.3_Intron|COL13A1_ENST00000520267.1_Intron|COL13A1_ENST00000398971.3_Intron|COL13A1_ENST00000398966.3_Intron|COL13A1_ENST00000520133.1_Intron|COL13A1_ENST00000522165.1_Intron|COL13A1_ENST00000357811.3_Intron|COL13A1_ENST00000356340.3_Intron|COL13A1_ENST00000398972.3_Intron|COL13A1_ENST00000517713.1_Intron|COL13A1_ENST00000398973.3_Intron NM_001130103.1 NP_001123575.1 collagen, type XIII, alpha 1 NA NA endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 28 TCATGGGGGAGCAGGAGCACC 0.587 NA a||| 4644 0.927316 0.9175 0.8919 5008 , , NA 20055 0.9891 NA 0.9076 False NA ,,, NA NA NA 2504 0.9223 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ293624 CCDS44419.1, CCDS44423.1, CCDS44424.1, CCDS44425.1, CCDS44427.1, CCDS44428.1, CCDS44423.2, CCDS44424.2, CCDS44425.2, CCDS44427.2, CCDS44428.2 10q22 2013-01-16 ENSG00000197467 ENSG00000197467 1305 Collagens 2190 protein-coding gene gene with protein product 120350 NA Standard NM_005203 NM_001130103 NA Approved uc001jql.3 Q5TAT6 OTTHUMG00000018394 ENST00000398978.3:c.657+111G>A chr10.hg19:g.71655443G>A NA hg19 CCDS44419.1 0.02 6.28482 GGAxCAG COVERED NOVEL COL13A1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000048468.1 0 6.320844 KEEP 0 0 0 21 767 GG 0.999869 0.999869 0 + 6 60 218 0 0 13.244503 174 60 6503 236 ENST00000398978.3 0.033333 1 COL13A1 1305 __UNKNOWN__ __UNKNOWN__ 10 71685532 71685532 __UNKNOWN__ Intron SNP G G C rs1227778 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:71685532G>C ENST00000398978.3 + 25 1788 COL13A1_ENST00000398974.3_Intron|COL13A1_ENST00000398969.3_Intron|COL13A1_ENST00000354547.3_Intron|COL13A1_ENST00000398968.3_Intron|COL13A1_ENST00000398964.3_Intron|COL13A1_ENST00000520267.1_Intron|COL13A1_ENST00000398971.3_Intron|COL13A1_ENST00000398966.3_Intron|COL13A1_ENST00000520133.1_Intron|COL13A1_ENST00000522165.1_Intron|COL13A1_ENST00000357811.3_Intron|COL13A1_ENST00000356340.3_Intron|COL13A1_ENST00000398972.3_Intron|COL13A1_ENST00000517713.1_Intron|COL13A1_ENST00000398973.3_Intron NM_001130103.1 NP_001123575.1 collagen, type XIII, alpha 1 NA NA endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 28 GGTCCAGGCCGTGGGTTGAGA 0.587 NA NA NA NA NA NA NA NA NA NA NA 0 C ,,,,, 2445,1343 803,839,252 37 40 39 ,,,,, 0.6 0 10 dbSNP_87 39 4966,3218 1501,1964,627 no intron,intron,intron,intron,intron,intron COL13A1 NM_001130103.1,NM_080798.3,NM_080800.3,NM_080801.3,NM_080802.3,NM_080805.3 ,,,,, 2304,2803,879 CC,CG,GG 39.3206,35.4541,38.0972 ,,,,, ,,,,, 71685532 7411,4561 1894 4092 5986 SO:0001627 intron_variant AJ293624 CCDS44419.1, CCDS44423.1, CCDS44424.1, CCDS44425.1, CCDS44427.1, CCDS44428.1, CCDS44423.2, CCDS44424.2, CCDS44425.2, CCDS44427.2, CCDS44428.2 10q22 2013-01-16 ENSG00000197467 ENSG00000197467 1305 Collagens 2190 protein-coding gene gene with protein product 120350 NA Standard NM_005203 NM_001130103 NA Approved uc001jql.3 Q5TAT6 OTTHUMG00000018394 ENST00000398978.3:c.1297-28G>C chr10.hg19:g.71685532G>C NA hg19 CCDS44419.1 0.02 4.51079 GCCxTGG COVERED NOVEL COL13A1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000048468.1 0 2.416086 KEEP 0 1 34 20 628 GG 0.999869 0.999862 0 + 5 60 184 0 0 11.956085 105 60 3469 149 ENST00000398978.3 0.045455 0.999993 LRRC20 55222 __UNKNOWN__ __UNKNOWN__ 10 72060035 72060035 __UNKNOWN__ 3'UTR SNP C C A rs3183518 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:72060035C>A ENST00000355790.4 - 0 2107 LRRC20_ENST00000395010.1_3'UTR|LRRC20_ENST00000373224.1_3'UTR|LRRC20_ENST00000358141.2_3'UTR|LRRC20_ENST00000395011.1_3'UTR NM_001278212.1|NM_001278214.1|NM_207119.1 NP_001265141.1|NP_001265143.1|NP_997002.1 Q8TCA0 LRC20_HUMAN leucine rich repeat containing 20 NA NA endometrium(2)|large_intestine(4)|lung(2)|urinary_tract(1) 9 ttgctgggtactgtcccagtt 0.567 NA C||| 1270 0.253594 0.0862 0.2911 5008 , , NA 21309 0.3264 NA 0.3569 False NA ,,, NA NA NA 2504 0.272 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC024001 CCDS7300.1, CCDS7301.1, CCDS7302.1, CCDS73145.1 10q22.2 2004-04-15 ENSG00000172731 ENSG00000172731 55222 23421 protein-coding gene gene with protein product NA Standard NM_018239 NM_207119 NA Approved FLJ10751, FLJ10844 uc031pvr.1 Q8TCA0 OTTHUMG00000018407 ENST00000355790.4:c.*1075G>T chr10.hg19:g.72060035C>A NA Q5T6D4|Q5T6D6|Q9NVA6|Q9NVG3 hg19 CCDS7302.1 0.02 11.199613 GTAxTGT COVERED NOVEL LRRC20-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000048510.1 2 11.371334 KEEP 0 1 29 48 1722 CC 1 1 0 - 17 60 613 0 0 41.668136 261 60 9835 391 ENST00000355790.4 0.061151 1 EIF4EBP2 1979 __UNKNOWN__ __UNKNOWN__ 10 72179746 72179746 __UNKNOWN__ Silent SNP C C T rs1043098 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:72179746C>T ENST00000373218.4 + 2 245 c.222C>T c.(220-222)caC>caT p.H74H NM_004096.4 NP_004087.1 Q13542 4EBP2_HUMAN eukaryotic translation initiation factor 4E binding protein 2 74 NA cAMP-mediated signaling (GO:0019933)|insulin receptor signaling pathway (GO:0008286)|negative regulation of translational initiation (GO:0045947)|translation (GO:0006412) large_intestine(1) 1 CACCCTGCCACCTGCCCAATA 0.448 NA T||| 2568 0.51278 0.4266 0.4712 5008 , , NA 17456 0.7272 NA 0.4612 False NA ,,, NA NA NA 2504 0.4908 NA NA NA NA 0 T 1858,2548 633.8+/-396.1 400,1058,745 85 84 84 222 1.3 1 10 dbSNP_86 84 4213,4387 583.0+/-391.5 1028,2157,1115 no coding-synonymous EIF4EBP2 NM_004096.4 1428,3215,1860 TT,TC,CC 48.9884,42.1698,46.6785 74/121 72179746 6071,6935 2203 4300 6503 SO:0001819 synonymous_variant CCDS7303.1 10q21-q22 2008-08-01 ENSG00000148730 ENSG00000148730 1979 3289 protein-coding gene gene with protein product 602224 NA 7935836, 8975712 Standard NM_004096 NM_004096 NA Approved uc001jrb.3 Q13542 OTTHUMG00000018409 ENST00000373218.4:c.222C>T chr10.hg19:g.72179746C>T NA hg19 CCDS7303.1 0.02 10.778487 CCAxCTG COVERED NOVEL EIF4EBP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000048513.1 3 7.797935 KEEP 0 5 148 78 2736 CC 1 1 0 + 14 60 498 1 0 32.095397 278 60 10170 457 ENST00000373218.4 0.047945 1 EIF4EBP2 1979 __UNKNOWN__ __UNKNOWN__ 10 72186524 72186524 __UNKNOWN__ 3'UTR SNP T T C rs3088383 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:72186524T>C ENST00000373218.4 + 0 5407 NM_004096.4 NP_004087.1 Q13542 4EBP2_HUMAN eukaryotic translation initiation factor 4E binding protein 2 NA NA cAMP-mediated signaling (GO:0019933)|insulin receptor signaling pathway (GO:0008286)|negative regulation of translational initiation (GO:0045947)|translation (GO:0006412) large_intestine(1) 1 TTTTTCTTTCTTATTTTGAGG 0.363 NA T||| 2507 0.500599 0.4274 0.4683 5008 , , NA 20362 0.6825 NA 0.4612 False NA ,,, NA NA NA 2504 0.4755 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS7303.1 10q21-q22 2008-08-01 ENSG00000148730 ENSG00000148730 1979 3289 protein-coding gene gene with protein product 602224 NA 7935836, 8975712 Standard NM_004096 NM_004096 NA Approved uc001jrb.3 Q13542 OTTHUMG00000018409 ENST00000373218.4:c.*5021T>C chr10.hg19:g.72186524T>C NA hg19 CCDS7303.1 0.02 4.951633 TTCxTAT COVERED NOVEL EIF4EBP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000048513.1 1 7.51993 KEEP 0 0 0 25 743 TT 0.999931 0.999931 0 + 5 60 197 0 0 12.918217 123 60 4541 176 ENST00000373218.4 0.039062 1 EIF4EBP2 1979 __UNKNOWN__ __UNKNOWN__ 10 72186794 72186794 __UNKNOWN__ 3'UTR SNP G G C rs7463 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:72186794G>C ENST00000373218.4 + 0 5677 NM_004096.4 NP_004087.1 Q13542 4EBP2_HUMAN eukaryotic translation initiation factor 4E binding protein 2 NA NA cAMP-mediated signaling (GO:0019933)|insulin receptor signaling pathway (GO:0008286)|negative regulation of translational initiation (GO:0045947)|translation (GO:0006412) large_intestine(1) 1 CCTCATCTAGGATAACAGCTG 0.483 NA G||| 1633 0.326078 0.0386 0.4063 5008 , , NA 20980 0.6369 NA 0.4125 False NA ,,, NA NA NA 2504 0.2485 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS7303.1 10q21-q22 2008-08-01 ENSG00000148730 ENSG00000148730 1979 3289 protein-coding gene gene with protein product 602224 NA 7935836, 8975712 Standard NM_004096 NM_004096 NA Approved uc001jrb.3 Q13542 OTTHUMG00000018409 ENST00000373218.4:c.*5291G>C chr10.hg19:g.72186794G>C NA hg19 CCDS7303.1 0.02 2.282106 TAGxATA COVERED NOVEL EIF4EBP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000048513.1 1 2.708647 KEEP 0 0 0 9 307 GG 0.99254 0.988801 0 + 7 60 261 0 0 19.604703 62 60 2279 84 ENST00000373218.4 0.101449 0.996233 NODAL 4838 __UNKNOWN__ __UNKNOWN__ 10 72195439 72195439 __UNKNOWN__ Missense_Mutation SNP T T C rs1904589 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:72195439T>C ENST00000287139.3 - 2 493 c.494A>G c.(493-495)cAc>cGc p.H165R AC022532.1_ENST00000420338.2_Missense_Mutation_p.V129A NM_018055.4 NP_060525.3 Q96S42 NODAL_HUMAN nodal growth differentiation factor 165 NA H -> R (in dbSNP:rs1904589). {ECO:0000269|Ref.1}. axial mesodermal cell fate specification (GO:0048327)|brain development (GO:0007420)|cell migration involved in gastrulation (GO:0042074)|digestive tract morphogenesis (GO:0048546)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic pattern specification (GO:0009880)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|endodermal cell differentiation (GO:0035987)|epiblast cell-extraembryonic ectoderm cell signaling involved in anterior/posterior axis specification (GO:0060802)|floor plate morphogenesis (GO:0033505)|formation of anatomical boundary (GO:0048859)|growth (GO:0040007)|heart looping (GO:0001947)|inhibition of neuroepithelial cell differentiation (GO:0002085)|left lung morphogenesis (GO:0060460)|liver development (GO:0001889)|maternal placenta development (GO:0001893)|maternal process involved in parturition (GO:0060137)|mesendoderm development (GO:0048382)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of chorionic trophoblast cell proliferation (GO:1901383)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of trophoblast cell migration (GO:1901164)|neural fold formation (GO:0001842)|nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900164)|placenta development (GO:0001890)|polarity specification of proximal/distal axis (GO:0010085)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900224)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gastrulation (GO:0010470)|regulation of stem cell maintenance (GO:2000036)|SMAD protein signal transduction (GO:0060395)|stem cell maintenance (GO:0019827)|transforming growth factor beta receptor signaling pathway involved in primitive streak formation (GO:0090010)|trophectodermal cellular morphogenesis (GO:0001831)|vasculature development (GO:0001944) extracellular space (GO:0005615) morphogen activity (GO:0016015)|type I activin receptor binding (GO:0070698) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2) 15 GGCCCCAGGGTGCTTCAGCCA 0.587 NA C||| 3334 0.665735 0.5113 0.6816 5008 , , NA 18872 0.9563 NA 0.5308 False NA ,,, NA NA NA 2504 0.7025 NA NA NA NA 0 C ARG/HIS 2230,2176 581.8+/-385.5 583,1064,556 39 38 39 494 -2.8 0.8 10 dbSNP_92 39 4775,3825 534.6+/-382.6 1323,2129,848 yes missense NODAL NM_018055.4 29 1906,3193,1404 CC,CT,TT 44.4767,49.3872,46.1402 benign 165/348 72195439 7005,6001 2203 4300 6503 SO:0001583 missense BC033585 CCDS7304.1 10q22.1 2012-12-07 2012-12-07 ENSG00000156574 ENSG00000156574 4838 7865 protein-coding gene gene with protein product 601265 nodal, mouse, homolog, nodal homolog (mouse) NA 9354794 Standard NM_018055 NM_018055 NA Approved uc001jrc.2 Q96S42 OTTHUMG00000018408 ENST00000287139.3:c.494A>G chr10.hg19:g.72195439T>C ENSP00000287139:p.His165Arg NA Q2M3A5|Q8N4V3 hg19 CCDS7304.1 0.02 9.685074 GGGxGCT COVERED 1434|1434 0.6565934065934066|0.6565934065934066 238|238 0.483739837398374|0.483739837398374 241|241 0.6657458563535912|0.6657458563535912 545|545 0.9527972027972028|0.9527972027972028 410|410 0.5408970976253298|0.5408970976253298 C|C 2.365|2.365 -0.345616|-0.345616 0.05208|0.05208 0.506128|0.506128 0.555233|0.555233 ENSG00000156574|ENSG00000197604 ENST00000287139;ENST00000414871|ENST00000420338 T;T|. 0.63913|. -0.07;-0.07|. 5.99|5.99 -2.83|-2.83 0.05769|0.05769 Transforming growth factor-beta, N-terminal (1);|. 0.896444|. 0.10001|. N|. 0.728419|. T|T 0.00012|0.00012 0.0000|0.0000 L|L 0.38175|0.38175 1.15|1.15 0.80722|0.80722 P|P 0.0|0.0 B|. 0.02656|. 0.0|. B|. 0.01281|. 0.0|. T|T 0.17776|0.17776 -1.0358|-1.0358 9|5 0.15499|0.87932 T|D 0.54|0 .|. 4.0111|4.0111 0.09623|0.09623 0.0932:0.2745:0.1016:0.5307|0.0932:0.2745:0.1016:0.5307 rs1904589;rs17846048;rs17859039;rs1904589|rs1904589;rs17846048;rs17859039;rs1904589 165|. Q96S42|. NODAL_HUMAN|. R|A 165;110|129 ENSP00000287139:H165R;ENSP00000394468:H110R|. ENSP00000287139:H165R|ENSP00000411125:V129A H|V -|+ 2|2 0|0 NODAL|AC022532.1 71865445|71865445 0.000000|0.000000 0.05858|0.05858 0.789000|0.789000 0.31954|0.31954 0.006000|0.006000 0.05464|0.05464 0.049000|0.049000 0.14099|0.14099 -0.447000|-0.447000 0.07138|0.07138 -2.060000|-2.060000 0.00399|0.00399 CAC|GTG NOVEL NODAL-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000048511.1 0 12.467406 KEEP 0 1 36 54 1626 TT 1 1 0 - 11 60 409 0 0 27.101613 213 60 7344 325 ENST00000287139.3 0.049107 1 PALD1 27143 __UNKNOWN__ __UNKNOWN__ 10 72326942 72326942 __UNKNOWN__ 3'UTR SNP C C T rs3740442 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:72326942C>T ENST00000263563.6 + 0 3292 NM_014431.2 NP_055246.2 Q9ULE6 PALD_HUMAN phosphatase domain containing, paladin 1 NA NA cytosol (GO:0005829) NA CTGCCATTGCCGCTCCCCTTG 0.607 NA C||| 909 0.18151 0.1104 0.0677 5008 , , NA 18359 0.4067 NA 0.1113 False NA ,,, NA NA NA 2504 0.1984 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB033100 CCDS31215.1 10q22.2 2012-07-17 2012-07-17 2012-07-17 ENSG00000107719 ENSG00000107719 27143 23530 protein-coding gene gene with protein product 614656 paladin, KIAA1274 PALD, KIAA1274 NA Standard NM_014431 NM_014431 NA Approved uc001jrd.4 Q9ULE6 OTTHUMG00000018411 ENST00000263563.6:c.*453C>T chr10.hg19:g.72326942C>T NA B2RMS1|B9EGC6|Q5JTK7|Q5JTK8 hg19 CCDS31215.1 0.02 8.871847 TGCxGCT COVERED NOVEL PALD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000048515.2 2 9.629219 KEEP 0 0 0 32 1084 CC 0.999997 0.999997 0 + 18 60 651 0 0 46.068695 218 60 7442 314 ENST00000263563.6 0.076271 1 PRF1 5551 __UNKNOWN__ __UNKNOWN__ 10 72357713 72357713 __UNKNOWN__ 3'UTR SNP C C T rs1889490 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:72357713C>T ENST00000441259.1 - 0 1924 PRF1_ENST00000373209.2_3'UTR NM_001083116.1|NM_005041.4 NP_001076585.1|NP_005032.2 P14222 PERF_HUMAN perforin 1 (pore forming protein) NA NA apoptotic process (GO:0006915)|cellular defense response (GO:0006968)|cytolysis (GO:0019835)|defense response to tumor cell (GO:0002357)|defense response to virus (GO:0051607)|immune response to tumor cell (GO:0002418)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085) cytolytic granule (GO:0044194)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|wide pore channel activity (GO:0022829) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3) 23 tcgggttggacaagcttgGTC 0.498 NA M various leukaemia, lymphoma Type 2 familial hemophagocytic lymphohistiocytosis Familial Hemophagocytic Lymphohistiocytosis C||| 2894 0.577875 0.7927 0.4928 5008 , , NA 18768 0.6101 NA 0.3877 False NA ,,, NA NA NA 2504 0.5102 NA NA NA yes Rec 10 10q22 5551 perforin 1 (pore forming protein) L 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Familial Cancer Database FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR BC047695 CCDS7305.1 10q22 2014-09-17 ENSG00000180644 ENSG00000180644 5551 9360 protein-coding gene gene with protein product Perforin, perforin 1 (preforming protein) 170280 NA 1505959, 2592021 Standard NM_005041 NM_005041 NA Approved PFP, P1, HPLH2 uc001jrf.4 P14222 OTTHUMG00000018412 ENST00000441259.1:c.*96G>A chr10.hg19:g.72357713C>T NA B2R6X4|Q59F57|Q86WX7 hg19 CCDS7305.1 0.02 19.668365 GGAxAAG COVERED NOVEL PRF1-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000048517.2 4 17.758018 KEEP 0 0 0 59 2105 CC 1 1 0 - 24 60 835 0 0 53.937687 446 60 16699 620 ENST00000441259.1 0.051064 1 PRF1 5551 __UNKNOWN__ __UNKNOWN__ 10 72358577 72358577 __UNKNOWN__ Silent SNP G G A rs885822 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:72358577G>A ENST00000441259.1 - 3 1060 c.900C>T c.(898-900)caC>caT p.H300H PRF1_ENST00000373209.2_Silent_p.H300H NM_001083116.1|NM_005041.4 NP_001076585.1|NP_005032.2 P14222 PERF_HUMAN perforin 1 (pore forming protein) 300 MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}. NA apoptotic process (GO:0006915)|cellular defense response (GO:0006968)|cytolysis (GO:0019835)|defense response to tumor cell (GO:0002357)|defense response to virus (GO:0051607)|immune response to tumor cell (GO:0002418)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085) cytolytic granule (GO:0044194)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|wide pore channel activity (GO:0022829) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3) 23 CCACTTCCGAGTGGCGCTCCC 0.612 NA M various leukaemia, lymphoma Type 2 familial hemophagocytic lymphohistiocytosis Familial Hemophagocytic Lymphohistiocytosis A||| 3485 0.695887 0.8381 0.6427 5008 , , NA 19157 0.7341 NA 0.5885 False NA ,,, NA NA NA 2504 0.6125 NA NA NA yes Rec 10 10q22 5551 perforin 1 (pore forming protein) L 0 A , 3504,902 348.7+/-310.1 1397,710,96 182 125 144 900,900 -11.7 0 10 dbSNP_86 144 5111,3489 509.6+/-377.3 1534,2043,723 no coding-synonymous,coding-synonymous PRF1 NM_001083116.1,NM_005041.4 , 2931,2753,819 AA,AG,GG 40.5698,20.4721,33.7613 , 300/556,300/556 72358577 8615,4391 2203 4300 6503 SO:0001819 synonymous_variant Familial Cancer Database FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR BC047695 CCDS7305.1 10q22 2014-09-17 ENSG00000180644 ENSG00000180644 5551 9360 protein-coding gene gene with protein product Perforin, perforin 1 (preforming protein) 170280 NA 1505959, 2592021 Standard NM_005041 NM_005041 NA Approved PFP, P1, HPLH2 uc001jrf.4 P14222 OTTHUMG00000018412 ENST00000441259.1:c.900C>T chr10.hg19:g.72358577G>A NA B2R6X4|Q59F57|Q86WX7 hg19 CCDS7305.1 0.02 17.514782 CGAxTGG COVERED NOVEL PRF1-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000048517.2 2 13.513816 KEEP 0 2 63 67 2373 GG 1 1 0 - 18 60 670 0 0 43.559606 390 60 14627 578 ENST00000441259.1 0.044118 1 ADAMTS14 140766 __UNKNOWN__ __UNKNOWN__ 10 72521794 72521794 __UNKNOWN__ 3'UTR SNP G G A rs3740437 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:72521794G>A ENST00000373208.1 + 0 4866 ADAMTS14_ENST00000373207.1_3'UTR NM_139155.2 NP_631894.2 Q8WXS8 ATS14_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 14 NA NA collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198) extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578) metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270) NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 CTCAGCTGCCGGCCATGCTAC 0.632 NA G||| 1104 0.220447 0.1672 0.2305 5008 , , NA 19565 0.3671 NA 0.1839 False NA ,,, NA NA NA 2504 0.1718 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF358666 CCDS7306.1, CCDS7307.1 10q21 2008-08-01 2005-08-19 ENSG00000138316 ENSG00000138316 140766 ADAM metallopeptidases with thrombospondin type 1 motif 14899 protein-coding gene gene with protein product 607506 a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14 NA 11779638 Standard NM_080722 NM_139155 NA Approved uc001jrg.3 Q8WXS8 OTTHUMG00000018414 ENST00000373208.1:c.*1185G>A chr10.hg19:g.72521794G>A NA Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8 hg19 CCDS7307.1 0.02 9.335183 GCCxGCC COVERED NOVEL ADAMTS14-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000048521.1 1 9.282302 KEEP 0 0 0 31 991 GG 0.999997 0.999997 0 + 8 60 304 0 0 19.514569 199 60 6832 267 ENST00000373208.1 0.038647 1 TBATA 219793 __UNKNOWN__ __UNKNOWN__ 10 72543028 72543028 __UNKNOWN__ Intron SNP C C A rs57085366 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:72543028C>A ENST00000299290.1 - 3 431 TBATA_ENST00000456372.2_Intron NM_152710.2 NP_689923 Q96M53 TBATA_HUMAN thymus, brain and testes associated NA NA cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283) cytosol (GO:0005829)|nucleus (GO:0005634) NA CCAAGGCCACCTTTGTCTTCT 0.557 NA c||| 344 0.0686901 0.0711 0.0749 5008 , , NA 17627 0.131 NA 0.0338 False NA ,,, NA NA NA 2504 0.0327 NA NA NA NA 0 T 86,1298 2,82,608 47 40 43 -3 0 10 dbSNP_129 43 90,3092 1,88,1502 no intron C10orf27 NM_152710.2 3,170,2110 AA,AC,CC 2.8284,6.2139,3.8546 72543028 176,4390 692 1591 2283 SO:0001627 intron_variant AK057382 CCDS7308.1 10q22.2 2012-05-23 2012-05-23 2012-05-23 ENSG00000166220 ENSG00000166220 219793 23511 protein-coding gene gene with protein product 612640 chromosome 10 open reading frame 27 C10orf27 NA 20937703 Standard NM_152710 NM_152710 NA Approved FLJ32820, spatial uc001jrj.1 Q96M53 OTTHUMG00000018413 ENST00000299290.1:c.41+66G>T chr10.hg19:g.72543028C>A NA A4QPA8|B2RPQ2|Q5T4G2 hg19 CCDS7308.1 0.02 17.940734 CACxTTT COVERED NOVEL TBATA-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000048519.1 0 15.649072 KEEP 0 0 0 52 1799 CC 1 1 0 - 18 60 656 0 0 42.210479 388 60 14370 564 ENST00000299290.1 0.044335 1 SLC29A3 55315 __UNKNOWN__ __UNKNOWN__ 10 73104054 73104054 __UNKNOWN__ Intron SNP C C T rs77626641 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:73104054C>T ENST00000373189.5 + 3 435 NM_001174098.1|NM_018344.5 NP_001167569.1|NP_060814.4 Q9BZD2 S29A3_HUMAN solute carrier family 29 (equilibrative nucleoside transporter), member 3 NA NA transmembrane transport (GO:0055085) endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765) nucleoside transmembrane transporter activity (GO:0005337) endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 15 AACAGGTAGGCGACTCTCTTC 0.562 NA C||| 60 0.0119808 0.0 0.013 5008 , , NA 20164 0.0506 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA Esophageal Squamous(200;1319 2142 18949 31248 39672) NA 0 C , 1,4405 4.2+/-10.8 0,1,2202 172 123 140 , 1.3 0 10 dbSNP_131 140 5,8595 3.7+/-12.6 0,5,4295 no intron,intron SLC29A3 NM_001174098.1,NM_018344.5 , 0,6,6497 TT,TC,CC 0.0581,0.0227,0.0461 , , 73104054 6,13000 2203 4300 6503 SO:0001627 intron_variant AF326987 CCDS7310.1 10q22.2 2013-07-17 2013-07-17 ENSG00000198246 ENSG00000198246 55315 Solute carriers 23096 protein-coding gene gene with protein product 612373 solute carrier family 29 (nucleoside transporters), member 3 NA 11396612 Standard NM_018344 NM_018344 NA Approved ENT3, FLJ11160 uc001jrr.4 Q9BZD2 OTTHUMG00000018424 ENST00000373189.5:c.383+6C>T chr10.hg19:g.73104054C>T NA B2RB50|B4E2Z9|B7ZA37|Q0VAM9|Q5T465|Q7RTT8|Q8IVZ0|Q9BWI2|Q9NUS9 hg19 CCDS7310.1 0.02 10.464936 AGGxGAC COVERED NOVEL SLC29A3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000048544.1 3 19.69242 KEEP 0 1 30 76 2572 CC 1 1 0 + 9 60 337 0 0 20.533183 285 60 9901 457 ENST00000373189.5 0.030612 1 SLC29A3 55315 __UNKNOWN__ __UNKNOWN__ 10 73116101 73116101 __UNKNOWN__ Intron SNP G G C rs80199710 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:73116101G>C ENST00000373189.5 + 5 825 SLC29A3_ENST00000469204.1_Intron NM_001174098.1|NM_018344.5 NP_001167569.1|NP_060814.4 Q9BZD2 S29A3_HUMAN solute carrier family 29 (equilibrative nucleoside transporter), member 3 NA NA transmembrane transport (GO:0055085) endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765) nucleoside transmembrane transporter activity (GO:0005337) endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 15 TTGTCTAGGTGCTATGGCTCA 0.493 NA G||| 91 0.0181709 0.0 0.0115 5008 , , NA 20984 0.0575 NA 0.008 False NA ,,, NA NA NA 2504 0.0174 NA NA NA Esophageal Squamous(200;1319 2142 18949 31248 39672) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF326987 CCDS7310.1 10q22.2 2013-07-17 2013-07-17 ENSG00000198246 ENSG00000198246 55315 Solute carriers 23096 protein-coding gene gene with protein product 612373 solute carrier family 29 (nucleoside transporters), member 3 NA 11396612 Standard NM_018344 NM_018344 NA Approved ENT3, FLJ11160 uc001jrr.4 Q9BZD2 OTTHUMG00000018424 ENST00000373189.5:c.773+101G>C chr10.hg19:g.73116101G>C NA B2RB50|B4E2Z9|B7ZA37|Q0VAM9|Q5T465|Q7RTT8|Q8IVZ0|Q9BWI2|Q9NUS9 hg19 CCDS7310.1 0.02 1.860398 GGTxCTA COVERED NOVEL SLC29A3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000048544.1 0 3.310787 KEEP 0 0 0 11 386 GG 0.993072 0.992563 0 + 6 60 203 0 0 13.829382 77 60 2839 106 ENST00000373189.5 0.072289 0.999487 SLC29A3 55315 __UNKNOWN__ __UNKNOWN__ 10 73122468 73122468 __UNKNOWN__ 3'UTR SNP G G T rs780680 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:73122468G>T ENST00000373189.5 + 0 1583 NM_001174098.1|NM_018344.5 NP_001167569.1|NP_060814.4 Q9BZD2 S29A3_HUMAN solute carrier family 29 (equilibrative nucleoside transporter), member 3 NA NA transmembrane transport (GO:0055085) endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765) nucleoside transmembrane transporter activity (GO:0005337) endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 15 TTTCACTTGGGGACAGAGAGC 0.547 NA G||| 539 0.107628 0.059 0.1513 5008 , , NA 21130 0.0982 NA 0.1034 False NA ,,, NA NA NA 2504 0.1564 NA NA NA Esophageal Squamous(200;1319 2142 18949 31248 39672) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF326987 CCDS7310.1 10q22.2 2013-07-17 2013-07-17 ENSG00000198246 ENSG00000198246 55315 Solute carriers 23096 protein-coding gene gene with protein product 612373 solute carrier family 29 (nucleoside transporters), member 3 NA 11396612 Standard NM_018344 NM_018344 NA Approved ENT3, FLJ11160 uc001jrr.4 Q9BZD2 OTTHUMG00000018424 ENST00000373189.5:c.*103G>T chr10.hg19:g.73122468G>T NA B2RB50|B4E2Z9|B7ZA37|Q0VAM9|Q5T465|Q7RTT8|Q8IVZ0|Q9BWI2|Q9NUS9 hg19 CCDS7310.1 0.02 6.577927 TGGxGAC COVERED NOVEL SLC29A3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000048544.1 0 8.426923 KEEP 0 0 0 28 964 GG 0.999997 0.999997 0 + 6 60 224 0 0 14.189293 152 60 5511 213 ENST00000373189.5 0.037975 1 CDH23 64072 __UNKNOWN__ __UNKNOWN__ 10 73447281 73447281 __UNKNOWN__ Intron SNP G G A rs1227087 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:73447281G>A ENST00000224721.6 + 18 2006 CDH23_ENST00000299366.7_Intron NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 NA NA calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601) integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420) calcium ion binding (GO:0005509) NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 CTGGTTATACGGAGAGGCCAA 0.607 NA G||| 1528 0.305112 0.239 0.2594 5008 , , NA 19402 0.3542 NA 0.2684 False NA ,,, NA NA NA 2504 0.4141 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY010111 CCDS53540.1, CCDS73146.1 10q22.1 2014-08-08 2010-01-25 ENSG00000107736 ENSG00000107736 64072 Cadherins / Cadherin-related 13733 protein-coding gene gene with protein product cadherin-related family member 23 605516 cadherin related 23, cadherin-like 23 DFNB12, USH1D NA 11090341 Standard NM_052836 NM_022124 NA Approved CDHR23 uc001jrx.4 Q9H251 OTTHUMG00000019347 ENST00000224721.6:c.2002-123G>A chr10.hg19:g.73447281G>A NA C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9 hg19 0.02 4.16531 TACxGAG COVERED NOVEL CDH23-001 PUTATIVE basic|appris_principal protein_coding NA protein_coding OTTHUMT00000051227.4 1 3.041835 KEEP 0 1 31 21 657 GG 0.999879 0.999879 0 + 6 60 217 0 0 13.870541 131 60 4227 174 ENST00000224721.6 0.043796 1 C10orf105 414152 __UNKNOWN__ __UNKNOWN__ 10 73472693 73472693 __UNKNOWN__ 3'UTR SNP G G A rs11599901 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:73472693G>A ENST00000441508.2 - 0 3601 CDH23_ENST00000224721.6_Intron|C10orf105_ENST00000398786.2_3'UTR NM_001164375.2 NP_001157847.1 Q8TEF2 CJ105_HUMAN chromosome 10 open reading frame 105 NA NA integral component of membrane (GO:0016021) NA GGGTGGGTCCGCTGCTCTGGA 0.697 NA G||| 800 0.159744 0.1248 0.1398 5008 , , NA 16527 0.1815 NA 0.1958 False NA ,,, NA NA NA 2504 0.1616 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK074172 CCDS44430.1 10q22.1 2012-06-01 ENSG00000214688 ENSG00000214688 414152 20304 protein-coding gene gene with protein product NA Standard NM_001164375 NM_001164375 NA Approved FLJ00245 uc001jsa.2 Q8TEF2 OTTHUMG00000018427 ENST00000441508.2:c.*3000C>T chr10.hg19:g.73472693G>A NA hg19 CCDS44430.1 0.02 3.686754 TCCxCTG COVERED NOVEL C10orf105-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000048551.2 4 11.11517 KEEP 0 0 0 37 1255 GG 1 1 0 - 7 60 231 0 0 14.487525 129 60 4334 196 ENST00000441508.2 0.051471 1 C10orf54 64115 __UNKNOWN__ __UNKNOWN__ 10 73507886 73507886 __UNKNOWN__ 3'UTR SNP A A G rs745577|rs549384048 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:73507886A>G ENST00000394957.3 - 0 4118 CDH23_ENST00000224721.6_Intron NM_022153.1 NP_071436.1 Q9H7M9 GI24_HUMAN chromosome 10 open reading frame 54 NA NA BMP signaling pathway (GO:0030509)|negative regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000562)|negative regulation of T cell cytokine production (GO:0002725)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of stem cell differentiation (GO:2000738)|stem cell differentiation (GO:0048863) external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021) breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 9 CTCATTCATGAGGCAGGACCC 0.637 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF193048 CCDS31218.1 10q22.1 2013-11-28 ENSG00000107738 ENSG00000107738 64115 Immunoglobulin superfamily / V-set domain containing 30085 protein-coding gene gene with protein product stress induced secreted protein 1 615608 NA 12975309 Standard NM_022153 NM_022153 NA Approved SISP1, GI24, B7-H5, B7H5 uc001jsd.3 Q9H7M9 OTTHUMG00000018426 ENST00000394957.3:c.*3124T>C chr10.hg19:g.73507886A>G NA A1L0X9|A4ZYV1|A8MVH5|Q6UXF3|Q8WUG3|Q8WYZ8 hg19 CCDS31218.1 0.02 10.396692 ATGxGGC COVERED NOVEL C10orf54-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000048548.1 4 40.616063 KEEP 0 0 0 135 4208 AA 1 1 0 - 13 60 462 0 0 30.088229 243 60 8897 480 ENST00000394957.3 0.050781 1 CDH23 64072 __UNKNOWN__ __UNKNOWN__ 10 73550969 73550969 __UNKNOWN__ Missense_Mutation SNP G G A rs10466026 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:73550969G>A ENST00000224721.6 + 46 6150 c.6145G>A c.(6145-6147)Gag>Aag p.E2049K NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 2044 Cadherin 19. {ECO:0000255|PROSITE- ProRule:PRU00043}. NA calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601) integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420) calcium ion binding (GO:0005509) p.E2049K(1) NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 GCTGCTGGCTGAGGACATCGG 0.627 NA G||| 1666 0.332668 0.261 0.3473 5008 , , NA 20132 0.5288 NA 0.2763 False NA ,,, NA NA NA 2504 0.2751 NA NA NA NA 1 Substitution - Missense(1) stomach(1) G LYS/GLU 1189,3207 151,887,1160 51 58 55 http://www.ncbi.nlm.nih.gov/sites/varvu?gene 6130 5.9 1 10 dbSNP_119 55 2258,6330 313,1632,2349 yes missense CDH23 NM_022124.5 56 464,2519,3509 AA,AG,GG 26.2925,27.0473,26.5481 possibly-damaging 2044/3355 73550969 3447,9537 2198 4294 6492 SO:0001583 missense AY010111 CCDS53540.1, CCDS73146.1 10q22.1 2014-08-08 2010-01-25 ENSG00000107736 ENSG00000107736 64072 Cadherins / Cadherin-related 13733 protein-coding gene gene with protein product cadherin-related family member 23 605516 cadherin related 23, cadherin-like 23 DFNB12, USH1D NA 11090341 Standard NM_052836 NM_022124 NA Approved CDHR23 uc001jrx.4 Q9H251 OTTHUMG00000019347 ENST00000224721.6:c.6145G>A chr10.hg19:g.73550969G>A ENSP00000224721:p.Glu2049Lys NA C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9 hg19 0.02 7.958404 GCTxAGG COVERED 760 0.34798534798534797 145 0.29471544715447157 108 0.2983425414364641 299 0.5227272727272727 208 0.27440633245382584 G 21.3 4.130608 0.77549 0.270473 0.262925 ENSG00000107736 ENST00000398860;ENST00000398855;ENST00000224721 . . . 5.91 5.91 0.95273 Cadherin (3);Cadherin-like (1); 0.213542 0.38605 N 0.001630 T 0.00012 0.0000 N 0.02142 -0.665 0.09310 P 1.0 P 0.38535 0.635 B 0.40134 0.32 T 0.18840 -1.0324 8 0.08179 T 0.78 . 11.4841 0.50344 0.0683:0.1272:0.8045:0.0 rs10466026;rs58573365;rs10466026 2044 Q9H251 CAD23_HUMAN K 2049;2044;2047 . ENSP00000224721:E2049K E + 1 0 CDH23 73220975 0.996000 0.38824 1.000000 0.80357 0.837000 0.47467 2.222000 0.42926 2.793000 0.96121 0.655000 0.94253 GAG NOVEL CDH23-001 PUTATIVE basic|appris_principal protein_coding NA protein_coding OTTHUMT00000051227.4 0 14.14524 KEEP 0 0 0 47 1649 GG 1 1 0 + 7 60 249 0 0 14.832962 209 60 8041 330 ENST00000224721.6 0.032407 1 CDH23 64072 __UNKNOWN__ __UNKNOWN__ 10 73558952 73558952 __UNKNOWN__ Missense_Mutation SNP C C T rs4747195 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:73558952C>T ENST00000224721.6 + 50 7159 c.7154C>T c.(7153-7155)cCg>cTg p.P2385L CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.P140L NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 2380 Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}. NA calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601) integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420) calcium ion binding (GO:0005509) p.P2385L(1) NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 AACGGGTCCCCGCCCCGGGCA 0.592 NA C||| 1644 0.328275 0.2443 0.3473 5008 , , NA 19778 0.5298 NA 0.2744 False NA ,,, NA NA NA 2504 0.2761 NA NA NA NA 1 Substitution - Missense(1) stomach(1) C LEU/PRO,LEU/PRO,LEU/PRO 966,3058 114,738,1160 70 80 77 http://www.ncbi.nlm.nih.gov/sites/varvu?gene 419,419,7139 5.6 1 10 dbSNP_111 77 2173,6145 304,1565,2290 yes missense,missense,missense CDH23 NM_001171933.1,NM_001171934.1,NM_022124.5 98,98,98 418,2303,3450 TT,TC,CC 26.1241,24.006,25.4335 probably-damaging,probably-damaging,probably-damaging 140/1115,140/1080,2380/3355 73558952 3139,9203 2012 4159 6171 SO:0001583 missense AY010111 CCDS53540.1, CCDS73146.1 10q22.1 2014-08-08 2010-01-25 ENSG00000107736 ENSG00000107736 64072 Cadherins / Cadherin-related 13733 protein-coding gene gene with protein product cadherin-related family member 23 605516 cadherin related 23, cadherin-like 23 DFNB12, USH1D NA 11090341 Standard NM_052836 NM_022124 NA Approved CDHR23 uc001jrx.4 Q9H251 OTTHUMG00000019347 ENST00000224721.6:c.7154C>T chr10.hg19:g.73558952C>T ENSP00000224721:p.Pro2385Leu NA C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9 hg19 0.02 20.636367 CCCxGCC COVERED 749 0.34294871794871795 133 0.2703252032520325 108 0.2983425414364641 300 0.5244755244755245 208 0.27440633245382584 C 22.5 4.304758 0.81247 0.24006 0.261241 ENSG00000107736 ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398788 T 0.00792 5.69 5.55 5.55 0.83447 Cadherin (4);Cadherin-like (1); 0.000000 0.85682 D 0.000000 T 0.00012 0.0000 M 0.82716 2.605 0.09310 P 0.99999999999995 D;D 0.89917 1.0;1.0 D;D 0.73708 0.981;0.981 T 0.53373 -0.8448 9 0.62326 D 0.03 . 19.516 0.95165 0.0:1.0:0.0:0.0 rs4747195;rs60719007;rs4747195 2380;2380 E9PEX1;Q9H251 .;CAD23_HUMAN L 2385;2380;2383;140 ENSP00000381768:P140L ENSP00000224721:P2385L P + 2 0 CDH23 73228958 1.000000 0.71417 0.994000 0.49952 0.319000 0.28217 7.786000 0.85741 2.623000 0.88846 0.655000 0.94253 CCG NOVEL CDH23-001 PUTATIVE basic|appris_principal protein_coding NA protein_coding OTTHUMT00000051227.4 0 19.837371 KEEP 0 0 0 66 2264 CC 1 1 0 + 16 60 610 0 0 38.4497 446 60 16108 672 ENST00000224721.6 0.034632 1 CDH23 64072 __UNKNOWN__ __UNKNOWN__ 10 73574843 73574843 __UNKNOWN__ Silent SNP G G A rs2290021 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:73574843G>A ENST00000224721.6 + 69 9893 c.9888G>A c.(9886-9888)acG>acA p.T3296T CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Silent_p.T1051T NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 3291 NA calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601) integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420) calcium ion binding (GO:0005509) NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 GCACGGGCACGCTGCTGGCCA 0.692 NA G||| 700 0.139776 0.0416 0.1945 5008 , , NA 16356 0.2887 NA 0.0765 False NA ,,, NA NA NA 2504 0.1452 NA NA NA NA 0 G ,,,, 219,4089 6,207,1941 16 24 22 http://www.ncbi.nlm.nih.gov/sites/varvu?gene 3153,3048,564,459,9873 -8.9 0.7 10 dbSNP_100 22 667,7805 38,591,3607 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous CDH23 NM_001171933.1,NM_001171934.1,NM_001171935.1,NM_001171936.1,NM_022124.5 ,,,, 44,798,5548 AA,AG,GG 7.873,5.0836,6.9327 ,,,, 1051/1115,1016/1080,188/252,153/217,3291/3355 73574843 886,11894 2154 4236 6390 SO:0001819 synonymous_variant AY010111 CCDS53540.1, CCDS73146.1 10q22.1 2014-08-08 2010-01-25 ENSG00000107736 ENSG00000107736 64072 Cadherins / Cadherin-related 13733 protein-coding gene gene with protein product cadherin-related family member 23 605516 cadherin related 23, cadherin-like 23 DFNB12, USH1D NA 11090341 Standard NM_052836 NM_022124 NA Approved CDHR23 uc001jrx.4 Q9H251 OTTHUMG00000019347 ENST00000224721.6:c.9888G>A chr10.hg19:g.73574843G>A NA C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9 hg19 0.02 10.844728 CACxCTG COVERED NOVEL CDH23-001 PUTATIVE basic|appris_principal protein_coding NA protein_coding OTTHUMT00000051227.4 3 24.376294 KEEP 0 0 0 81 2743 GG 1 1 0 + 9 60 333 0 0 20.422382 264 60 8924 391 ENST00000224721.6 0.032967 1 DDIT4 54541 __UNKNOWN__ __UNKNOWN__ 10 74035041 74035041 __UNKNOWN__ 3'UTR SNP T T A rs1053639 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:74035041T>A ENST00000307365.3 + 0 995 RP11-442H21.2_ENST00000491934.2_RNA NM_019058.2 NP_061931.1 Q9NX09 DDIT4_HUMAN DNA-damage-inducible transcript 4 NA NA brain development (GO:0007420)|cell proliferation (GO:0008283)|defense response to virus (GO:0051607)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of glycolytic process (GO:0045820)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of TOR signaling (GO:0032007)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron death (GO:1901216)|protein complex disassembly (GO:0043241)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666) cytoplasm (GO:0005737)|intracellular (GO:0005622)|mitochondrion (GO:0005739) cervix(1)|endometrium(2)|lung(5)|pancreas(1)|prostate(2)|urinary_tract(1) 12 GACTGATTCCTGTGGTTGGAA 0.557 NA OREG0020262 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) T||| 2317 0.46266 0.1967 0.4798 5008 , , NA 20570 0.8085 NA 0.3986 False NA ,,, NA NA NA 2504 0.5194 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK000507 CCDS7315.1 10q22.1 2008-05-14 ENSG00000168209 ENSG00000168209 54541 24944 protein-coding gene gene with protein product HIF-1 responsive RTP801 607729 NA 11884613 Standard NM_019058 NM_019058 NA Approved RTP801, FLJ20500, REDD-1, REDD1, Dig2 uc001jsx.1 Q9NX09 OTTHUMG00000018435 ENST00000307365.3:c.*95T>A chr10.hg19:g.74035041T>A 1149 Q9H0S3 hg19 CCDS7315.1 0.02 6.80168 TCCxGTG COVERED NOVEL DDIT4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000048577.1 2 41.224239 KEEP 0 0 0 137 4375 TT 1 1 0 + 9 60 341 0 0 22.925371 169 60 6225 410 ENST00000307365.3 0.050562 1 PPP3CB 5532 __UNKNOWN__ __UNKNOWN__ 10 75197804 75197804 __UNKNOWN__ 3'UTR SNP T T C rs3750574 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:75197804T>C ENST00000360663.5 - 0 1882 PPP3CB_ENST00000544628.1_3'UTR|PPP3CB_ENST00000394829.2_3'UTR|PPP3CB_ENST00000394828.2_3'UTR P16298 PP2BB_HUMAN protein phosphatase 3, catalytic subunit, beta isozyme NA NA axon extension (GO:0048675)|calcium ion-dependent exocytosis (GO:0017156)|cellular response to drug (GO:0035690)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|innate immune response (GO:0045087)|learning (GO:0007612)|locomotion involved in locomotory behavior (GO:0031987)|memory (GO:0007613)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of transcription, DNA-templated (GO:0045893)|protein dephosphorylation (GO:0006470)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of synaptic plasticity (GO:0048167)|response to cytokine (GO:0034097)|signal transduction (GO:0007165)|social behavior (GO:0035176)|T cell activation (GO:0042110)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098) calcineurin complex (GO:0005955)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein phosphatase 2B binding (GO:0030346)|protein serine/threonine phosphatase activity (GO:0004722) breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1) 22 Prostate(51;0.0119) TTGGCAGCGATGACCCAATCT 0.522 NA T||| 75 0.014976 0.0 0.0 5008 , , NA 17963 0.0714 NA 0.0 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M29551 CCDS7328.1, CCDS44436.1, CCDS44437.1 10q22.2 2010-03-17 2010-03-05 ENSG00000107758 ENSG00000107758 5532 3.1.3.16 Serine/threonine phosphatases / Protein phosphatase, catalytic subunits 9315 protein-coding gene gene with protein product calcineurin A beta, protein phosphatase 2B, catalytic subunit, beta isoform 114106 protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform (calcineurin A beta), protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform CALNB NA 1659808, 2558868 Standard NM_021132 XM_005269944 NA Approved CALNA2, CNA2, PP2Bbeta uc001juf.3 P16298 OTTHUMG00000018472 ENST00000360663.5:c.*196A>G chr10.hg19:g.75197804T>C NA P16299|Q5F2F9|Q8N1F0|Q8N3W4 hg19 CCDS7328.1 0.02 13.857584 CGAxGAC COVERED NOVEL PPP3CB-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000048669.1 5 22.259574 KEEP 0 0 0 74 2282 TT 1 1 0 - 15 60 516 0 0 32.345028 312 60 11380 484 ENST00000360663.5 0.045872 1 SYNPO2L 79933 __UNKNOWN__ __UNKNOWN__ 10 75406764 75406764 __UNKNOWN__ Silent SNP G G C rs118159842 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:75406764G>C ENST00000394810.2 - 4 2795 c.2646C>G c.(2644-2646)gcC>gcG p.A882A SYNPO2L_ENST00000372873.4_Silent_p.A658A NM_001114133.1 NP_001107605.1 Q9H987 SYP2L_HUMAN synaptopodin 2-like 882 Pro-rich. NA cytoskeleton (GO:0005856)|nucleus (GO:0005634)|Z disc (GO:0030018) breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Prostate(51;0.0112) CCTGGACTCGGGCAGTTTTGG 0.597 NA G||| 54 0.0107827 0.0061 0.0 5008 , , NA 16051 0.0427 NA 0.0 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 G , 17,4389 0,17,2186 59 67 65 2646,1974 2 1 10 dbSNP_132 65 4,8594 0,4,4295 no coding-synonymous,coding-synonymous SYNPO2L NM_001114133.1,NM_024875.3 , 0,21,6481 CC,CG,GG 0.0465,0.3858,0.1615 , 882/978,658/754 75406764 21,12983 2203 4299 6502 SO:0001819 synonymous_variant AK022983 CCDS7331.1, CCDS44438.1 10q22.3 2007-12-19 ENSG00000166317 ENSG00000166317 79933 23532 protein-coding gene gene with protein product NA Standard NM_024875 XM_005270158 NA Approved FLJ12921 uc001jut.4 Q9H987 OTTHUMG00000018471 ENST00000394810.2:c.2646C>G chr10.hg19:g.75406764G>C NA A5PKV9|Q68A20 hg19 CCDS44438.1 0.02 8.115081 TCGxGCA COVERED NOVEL SYNPO2L-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000316562.2 3 28.528037 KEEP 0 1 8 98 3339 GG 1 1 0 - 8 60 254 0 0 14.517189 236 60 8602 419 ENST00000394810.2 0.032787 1 KAT6B 23522 __UNKNOWN__ __UNKNOWN__ 10 76729632 76729632 __UNKNOWN__ Intron SNP C C T rs3213967 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:76729632C>T ENST00000287239.4 + 5 1335 KAT6B_ENST00000372711.1_Intron|KAT6B_ENST00000372724.1_Intron|KAT6B_ENST00000372725.1_Intron|KAT6B_ENST00000372714.1_Intron NM_001256468.1|NM_012330.3 NP_001243397.1|NP_036462.2 Q8WYB5 KAT6B_HUMAN K(lysine) acetyltransferase 6B NA NA chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634) acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270) NA CTTTCTAAAGCTTTAAATACA 0.358 NA T||| 2374 0.474042 0.8192 0.3026 5008 , , NA 19007 0.38 NA 0.168 False NA ,,, NA NA NA 2504 0.5409 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF113514 CCDS7345.1, CCDS58084.1, CCDS58085.1 10q22.2 2013-01-28 2011-07-21 2011-07-21 ENSG00000156650 ENSG00000156650 23522 Chromatin-modifying enzymes / K-acetyltransferases, Zinc fingers, C2HC-type containing, Zinc fingers, PHD-type 17582 protein-coding gene gene with protein product MOZ-related factor 605880 MYST histone acetyltransferase (monocytic leukemia) 4 MYST4 NA 9205841, 10497217 Standard NM_012330 NM_012330 NA Approved querkopf, qkf, Morf, MOZ2, ZC2HC6B uc001jwn.2 Q8WYB5 OTTHUMG00000018509 ENST00000287239.4:c.846+99C>T chr10.hg19:g.76729632C>T NA O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0 hg19 CCDS7345.1 0.02 5.510869 AAGxTTT COVERED NOVEL KAT6B-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000048771.1 0 17.758401 KEEP 0 0 0 59 2132 CC 1 1 0 + 8 60 282 0 0 17.43724 192 60 7255 293 ENST00000287239.4 0.04 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 76849146 76849146 __UNKNOWN__ IGR SNP G G A rs61978560 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:76849146G>A NA NA DUPD1 (30874 upstream) : DUSP13 (5045 downstream) NA NA NA TCTTGGCAGTGCAGATGAAAA 0.468 NA G||| 668 0.133387 0.09 0.0793 5008 , , NA 23421 0.0486 NA 0.1044 False NA ,,, NA NA NA 2504 0.3476 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.76849146G>A NA hg19 0.02 1.880841 AGTxCAG COVERED NOVEL 0 0 5.417916 KEEP 0 0 0 18 658 GG 0.999859 0.99974 0 5 60 180 0 0 11.953723 87 60 3279 140 0.054348 0.999881 KCNMA1 3778 __UNKNOWN__ __UNKNOWN__ 10 78737295 78737295 __UNKNOWN__ Intron SNP G G A rs11001956 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:78737295G>A ENST00000286627.5 - 19 3045 KCNMA1_ENST00000286628.8_Intron|RP11-443A13.5_ENST00000600782.1_RNA|KCNMA1_ENST00000354353.5_Intron|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000404857.1_Intron|KCNMA1_ENST00000372443.1_Intron|RP11-443A13.5_ENST00000598613.1_RNA|KCNMA1_ENST00000404771.3_Intron|KCNMA1_ENST00000406533.3_Intron|KCNMA1_ENST00000372440.1_Intron NM_001271519.1|NM_002247.3 NP_001258448.1|NP_002238.2 Q12791 KCMA1_HUMAN potassium large conductance calcium-activated channel, subfamily M, alpha member 1 NA NA blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268) apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076) actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249) breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 68 all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198) OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183) Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721) atattaactcgctgacctttg 0.443 NA G||| 405 0.0808706 0.0061 0.0605 5008 , , NA 18091 0.2629 NA 0.007 False NA ,,, NA NA NA 2504 0.0849 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U11717 CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1 10q22 2012-07-05 ENSG00000156113 ENSG00000156113 3778 Potassium channels, Voltage-gated ion channels / Potassium channels, calcium-activated 6284 protein-coding gene gene with protein product BK channel alpha subunit 600150 SLO NA 7987297, 16382103 Standard NM_002247 NM_002247 NA Approved KCa1.1, mSLO1 uc001jxn.3 Q12791 OTTHUMG00000018543 ENST00000286627.5:c.2093-7470C>T chr10.hg19:g.78737295G>A NA F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6 hg19 CCDS7352.1 0.02 13.047232 CTCxCTG COVERED NOVEL KCNMA1-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000048877.3 2 24.073094 KEEP 0 0 0 80 2718 GG 1 1 0 - 9 60 338 0 0 20.056303 331 60 11536 512 ENST00000286627.5 0.026471 1 DLG5 9231 __UNKNOWN__ __UNKNOWN__ 10 79553749 79553749 __UNKNOWN__ Intron SNP G G A rs201976622 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:79553749G>A ENST00000372391.2 - 31 5662 DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Intron NM_004747.3 NP_004738.3 Q8TDM6 DLG5_HUMAN discs, large homolog 5 (Drosophila) NA NA apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186) cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886) beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159) breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) CCCCACTCCAGGCCCACGCAC 0.572 NA G||| 1 0.000199681 0.0 0.0 5008 , , NA 21625 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 163 131 142 NA NA 10 NA 79553749 2203 4300 6503 SO:0001627 intron_variant U61843 CCDS7353.2 10q23 2008-07-09 2001-11-28 ENSG00000151208 ENSG00000151208 9231 2904 protein-coding gene gene with protein product 604090 discs, large (Drosophila) homolog 5 NA 9738934 Standard XM_005270276 NA Approved P-dlg, KIAA0583 uc001jzk.3 Q8TDM6 OTTHUMG00000018548 ENST00000372391.2:c.5656+16C>T chr10.hg19:g.79553749G>A NA A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3 hg19 CCDS7353.2 0.02 13.59135 CCAxGCC COVERED NOVEL DLG5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000048900.2 2 22.264329 KEEP 0 0 0 74 2616 GG 1 1 0 - 16 60 578 0 0 37.558714 329 60 12458 545 ENST00000372391.2 0.046377 1 ZMIZ1 57178 __UNKNOWN__ __UNKNOWN__ 10 81073515 81073515 __UNKNOWN__ 3'UTR SNP C C G rs3824718 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:81073515C>G ENST00000334512.5 + 0 4785 NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 NA NA artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296) cytoplasm (GO:0005737)|nucleus (GO:0005634) zinc ion binding (GO:0008270) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) TCCGTCTGTTCTGTTTTTCTC 0.473 NA C||| 1877 0.3748 0.329 0.3631 5008 , , NA 20068 0.4603 NA 0.3847 False NA ,,, NA NA NA 2504 0.3466 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB033050 CCDS7357.1 10q22.3 2012-11-30 2006-10-24 2006-10-24 ENSG00000108175 ENSG00000108175 57178 Zinc fingers, MIZ-type 16493 protein-coding gene gene with protein product 607159 retinoic acid induced 17 RAI17 NA 15626329 Standard NM_020338 NM_020338 NA Approved RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ uc001kaf.2 Q9ULJ6 OTTHUMG00000018560 ENST00000334512.5:c.*1009C>G chr10.hg19:g.81073515C>G NA Q5JSH9|Q7Z7E6 hg19 CCDS7357.1 0.02 4.911322 GTTxTGT COVERED NOVEL ZMIZ1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000048944.2 2 14.447629 KEEP 0 0 0 48 1757 CC 1 1 0 + 8 60 304 0 0 20.803174 136 60 5147 239 ENST00000334512.5 0.055556 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 81107135 81107135 __UNKNOWN__ IGR SNP A A C rs2233713 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:81107135A>C NA NA ZMIZ1 (30859 upstream) : PPIF (91 downstream) NA NA NA CGGCAGGGGTAGTCCACGGAC 0.726 NA C||| 3242 0.647364 0.879 0.6614 5008 , , NA 8370 0.6468 NA 0.5119 False NA ,,, NA NA NA 2504 0.4642 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.81107135A>C NA hg19 0.02 2.054182 GGTxGTC COVERED NOVEL 0 1 9.318791 KEEP 0 0 0 31 860 AA 0.999997 0.98954 0 5 60 174 0 0 12.282293 56 60 1544 111 0.081967 0.989542 PPIF 10105 __UNKNOWN__ __UNKNOWN__ 10 81108956 81108956 __UNKNOWN__ Intron SNP A A G rs2233718 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:81108956A>G ENST00000225174.3 + 2 297 PPIF_ENST00000394579.3_Intron|PPIF_ENST00000492149.1_Intron NM_005729.3 NP_005720.1 P30405 PPIF_HUMAN peptidylprolyl isomerase F NA NA apoptotic mitochondrial changes (GO:0008637)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ATPase activity (GO:0032780)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of oxidative phosphorylation (GO:0090324)|negative regulation of oxidative phosphorylation uncoupler activity (GO:2000276)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein folding (GO:0006457)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in programmed necrotic cell death (GO:1902445)|regulation of necrotic cell death (GO:0010939)|regulation of proton-transporting ATPase activity, rotational mechanism (GO:0010849)|response to ischemia (GO:0002931) membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759) cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755) endometrium(2)|lung(2)|skin(2) 6 all_cancers(46;0.0893)|Breast(12;8.52e-05)|all_epithelial(25;0.00449)|Prostate(51;0.00985) Epithelial(14;0.00242)|all cancers(16;0.0069)|Colorectal(32;0.229) Cyclosporine(DB00091)|L-Proline(DB00172) GTCGGGGCTCAGAGACCCCTG 0.637 NA A||| 2566 0.51238 0.3843 0.6254 5008 , , NA 18466 0.6478 NA 0.5169 False NA ,,, NA NA NA 2504 0.4611 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M80254 CCDS7358.1 10q22-q23 2008-10-24 2008-10-24 ENSG00000108179 ENSG00000108179 10105 5.2.1.8 9259 protein-coding gene gene with protein product cyclophilin D 604486 peptidylprolyl isomerase F (cyclophilin F) NA 1744118 Standard NM_005729 NM_005729 NA Approved hCyP3, Cyp-D uc001kai.3 P30405 OTTHUMG00000018562 ENST00000225174.3:c.226+94A>G chr10.hg19:g.81108956A>G NA Q2YDB7|Q5W131 hg19 CCDS7358.1 0.02 4.038031 CTCxGAG COVERED NOVEL PPIF-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000048949.1 0 8.724139 KEEP 0 0 0 29 878 AA 0.999997 0.999986 0 + 6 60 195 0 0 12.390443 100 60 3692 138 ENST00000225174.3 0.056604 0.999989 PPIF 10105 __UNKNOWN__ __UNKNOWN__ 10 81114060 81114060 __UNKNOWN__ 3'UTR SNP G G A rs7332 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:81114060G>A ENST00000225174.3 + 0 1157 PPIF_ENST00000394579.3_3'UTR NM_005729.3 NP_005720.1 P30405 PPIF_HUMAN peptidylprolyl isomerase F NA NA apoptotic mitochondrial changes (GO:0008637)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ATPase activity (GO:0032780)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of oxidative phosphorylation (GO:0090324)|negative regulation of oxidative phosphorylation uncoupler activity (GO:2000276)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein folding (GO:0006457)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in programmed necrotic cell death (GO:1902445)|regulation of necrotic cell death (GO:0010939)|regulation of proton-transporting ATPase activity, rotational mechanism (GO:0010849)|response to ischemia (GO:0002931) membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759) cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755) endometrium(2)|lung(2)|skin(2) 6 all_cancers(46;0.0893)|Breast(12;8.52e-05)|all_epithelial(25;0.00449)|Prostate(51;0.00985) Epithelial(14;0.00242)|all cancers(16;0.0069)|Colorectal(32;0.229) Cyclosporine(DB00091)|L-Proline(DB00172) TAACTTCCCCGTGCTGTGGTG 0.438 NA A||| 3253 0.649561 0.8744 0.6657 5008 , , NA 22285 0.6468 NA 0.5268 False NA ,,, NA NA NA 2504 0.4632 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M80254 CCDS7358.1 10q22-q23 2008-10-24 2008-10-24 ENSG00000108179 ENSG00000108179 10105 5.2.1.8 9259 protein-coding gene gene with protein product cyclophilin D 604486 peptidylprolyl isomerase F (cyclophilin F) NA 1744118 Standard NM_005729 NM_005729 NA Approved hCyP3, Cyp-D uc001kai.3 P30405 OTTHUMG00000018562 ENST00000225174.3:c.*462G>A chr10.hg19:g.81114060G>A NA Q2YDB7|Q5W131 hg19 CCDS7358.1 0.02 8.909162 CCCxTGC COVERED NOVEL PPIF-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000048949.1 2 13.23973 KEEP 0 0 0 44 1462 GG 1 1 0 + 16 60 585 0 0 41.575824 194 60 6707 303 ENST00000225174.3 0.07619 1 PPIF 10105 __UNKNOWN__ __UNKNOWN__ 10 81114813 81114813 __UNKNOWN__ 3'UTR SNP C C G rs8837 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:81114813C>G ENST00000225174.3 + 0 1910 NM_005729.3 NP_005720.1 P30405 PPIF_HUMAN peptidylprolyl isomerase F NA NA apoptotic mitochondrial changes (GO:0008637)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ATPase activity (GO:0032780)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of oxidative phosphorylation (GO:0090324)|negative regulation of oxidative phosphorylation uncoupler activity (GO:2000276)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein folding (GO:0006457)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in programmed necrotic cell death (GO:1902445)|regulation of necrotic cell death (GO:0010939)|regulation of proton-transporting ATPase activity, rotational mechanism (GO:0010849)|response to ischemia (GO:0002931) membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759) cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755) endometrium(2)|lung(2)|skin(2) 6 all_cancers(46;0.0893)|Breast(12;8.52e-05)|all_epithelial(25;0.00449)|Prostate(51;0.00985) Epithelial(14;0.00242)|all cancers(16;0.0069)|Colorectal(32;0.229) Cyclosporine(DB00091)|L-Proline(DB00172) gtggggcctgctacgaggtgt 0.458 NA G||| 3455 0.689896 0.9607 0.6888 5008 , , NA 20821 0.6577 NA 0.5577 False NA ,,, NA NA NA 2504 0.4939 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M80254 CCDS7358.1 10q22-q23 2008-10-24 2008-10-24 ENSG00000108179 ENSG00000108179 10105 5.2.1.8 9259 protein-coding gene gene with protein product cyclophilin D 604486 peptidylprolyl isomerase F (cyclophilin F) NA 1744118 Standard NM_005729 NM_005729 NA Approved hCyP3, Cyp-D uc001kai.3 P30405 OTTHUMG00000018562 ENST00000225174.3:c.*1215C>G chr10.hg19:g.81114813C>G NA Q2YDB7|Q5W131 hg19 CCDS7358.1 0.02 2.303023 CTGxTAC COVERED NOVEL PPIF-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000048949.1 0 9.63173 KEEP 0 0 0 32 1173 CC 0.999997 0.99899 0 + 4 60 147 0 0 9.75887 74 60 2831 141 ENST00000225174.3 0.051282 0.998993 PPIF 10105 __UNKNOWN__ __UNKNOWN__ 10 81114959 81114959 __UNKNOWN__ 3'UTR SNP C C T rs7898 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:81114959C>T ENST00000225174.3 + 0 2056 NM_005729.3 NP_005720.1 P30405 PPIF_HUMAN peptidylprolyl isomerase F NA NA apoptotic mitochondrial changes (GO:0008637)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ATPase activity (GO:0032780)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of oxidative phosphorylation (GO:0090324)|negative regulation of oxidative phosphorylation uncoupler activity (GO:2000276)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein folding (GO:0006457)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in programmed necrotic cell death (GO:1902445)|regulation of necrotic cell death (GO:0010939)|regulation of proton-transporting ATPase activity, rotational mechanism (GO:0010849)|response to ischemia (GO:0002931) membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759) cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755) endometrium(2)|lung(2)|skin(2) 6 all_cancers(46;0.0893)|Breast(12;8.52e-05)|all_epithelial(25;0.00449)|Prostate(51;0.00985) Epithelial(14;0.00242)|all cancers(16;0.0069)|Colorectal(32;0.229) Cyclosporine(DB00091)|L-Proline(DB00172) atgtgacatgcctgatccccc 0.507 NA C||| 2565 0.512181 0.385 0.6254 5008 , , NA 17195 0.6468 NA 0.5159 False NA ,,, NA NA NA 2504 0.4611 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M80254 CCDS7358.1 10q22-q23 2008-10-24 2008-10-24 ENSG00000108179 ENSG00000108179 10105 5.2.1.8 9259 protein-coding gene gene with protein product cyclophilin D 604486 peptidylprolyl isomerase F (cyclophilin F) NA 1744118 Standard NM_005729 NM_005729 NA Approved hCyP3, Cyp-D uc001kai.3 P30405 OTTHUMG00000018562 ENST00000225174.3:c.*1361C>T chr10.hg19:g.81114959C>T NA Q2YDB7|Q5W131 hg19 CCDS7358.1 0.02 1.721887 ATGxCTG COVERED NOVEL PPIF-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000048949.1 1 3.310732 KEEP 0 0 0 11 384 CC 0.993072 0.991777 0 + 4 60 143 0 0 9.405447 72 60 2636 91 ENST00000225174.3 0.052632 0.998696 ZCCHC24 219654 __UNKNOWN__ __UNKNOWN__ 10 81142365 81142365 __UNKNOWN__ 3'UTR SNP C C T rs6858 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:81142365C>T ENST00000372336.3 - 0 4648 RP11-342M3.5_ENST00000438554.2_RNA NM_153367.3 NP_699198.2 Q8N2G6 ZCH24_HUMAN zinc finger, CCHC domain containing 24 NA NA poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270) breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1) 9 GAAGGATAAGCCCGCTGCCAC 0.602 NA C||| 2286 0.45647 0.3525 0.5159 5008 , , NA 16300 0.6171 NA 0.4761 False NA ,,, NA NA NA 2504 0.3691 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK075279 CCDS7359.1 10q22.3 2014-02-20 2008-06-23 2008-06-23 ENSG00000165424 ENSG00000165424 219654 Zinc fingers, CCHC domain containing 26911 protein-coding gene gene with protein product zinc finger, 3CxxC-type 8 chromosome 10 open reading frame 56 C10orf56 NA 12477932 Standard NM_153367 NM_153367 NA Approved FLJ90798, Z3CXXC8 uc010qlr.2 Q8N2G6 OTTHUMG00000018561 ENST00000372336.3:c.*3736G>A chr10.hg19:g.81142365C>T NA Q5U5T9|Q8TAG0 hg19 CCDS7359.1 0.02 10.215698 AAGxCCG COVERED NOVEL ZCCHC24-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000048947.1 2 48.42384 KEEP 0 0 0 161 5769 CC 1 1 0 - 25 60 794 0 0 54.798664 262 60 9625 575 ENST00000372336.3 0.087108 1 ZCCHC24 219654 __UNKNOWN__ __UNKNOWN__ 10 81144697 81144697 __UNKNOWN__ 3'UTR SNP C C T rs4979863 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:81144697C>T ENST00000372336.3 - 0 2316 RP11-342M3.5_ENST00000438554.2_RNA NM_153367.3 NP_699198.2 Q8N2G6 ZCH24_HUMAN zinc finger, CCHC domain containing 24 NA NA poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270) breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1) 9 GACAGAGGAGCGCACGATCCC 0.582 NA C||| 1554 0.310304 0.1324 0.2651 5008 , , NA 13610 0.5933 NA 0.2932 False NA ,,, NA NA NA 2504 0.3088 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK075279 CCDS7359.1 10q22.3 2014-02-20 2008-06-23 2008-06-23 ENSG00000165424 ENSG00000165424 219654 Zinc fingers, CCHC domain containing 26911 protein-coding gene gene with protein product zinc finger, 3CxxC-type 8 chromosome 10 open reading frame 56 C10orf56 NA 12477932 Standard NM_153367 NM_153367 NA Approved FLJ90798, Z3CXXC8 uc010qlr.2 Q8N2G6 OTTHUMG00000018561 ENST00000372336.3:c.*1404G>A chr10.hg19:g.81144697C>T NA Q5U5T9|Q8TAG0 hg19 CCDS7359.1 0.02 1.414381 GAGxGCA COVERED NOVEL ZCCHC24-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000048947.1 0 15.031435 KEEP 0 0 0 50 1661 CC 1 0.999962 0 - 9 60 278 0 0 18.987006 91 60 2953 188 ENST00000372336.3 0.09 0.999962 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 81651906 81651906 __UNKNOWN__ IGR SNP A A G rs1972481 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:81651906A>G NA NA NUTM2E (41274 upstream) : MBL1P (28027 downstream) NA NA NA AAAGTCAGTCATGTAGAGATA 0.393 NA A||| 1352 0.269968 0.0651 0.2176 5008 , , NA 19265 0.4683 NA 0.2813 False NA ,,, NA NA NA 2504 0.3681 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.81651906A>G NA hg19 0.02 30.193404 GTCxTGT COVERED NOVEL 0 5 7.996753 KEEP 1 2 76 53 1684 AA 1 1 0 34 60 1221 0 0 78.61275 698 60 25920 986 0.046448 1 TMEM254 80195 __UNKNOWN__ __UNKNOWN__ 10 81851731 81851731 __UNKNOWN__ 3'UTR SNP T T C rs11201641 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:81851731T>C ENST00000372281.3 + 0 1460 TMEM254_ENST00000467529.1_3'UTR NM_001270372.1|NM_025125.3 NP_001257301.1|NP_079401.2 Q8TBM7 TM254_HUMAN transmembrane protein 254 NA NA integral component of membrane (GO:0016021) NA CTCTGATTTATTCAAAACACA 0.358 NA .||| 1202 0.240016 0.174 0.1239 5008 , , NA 20994 0.4375 NA 0.1332 False NA ,,, NA NA NA 2504 0.318 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC022252 CCDS7363.1, CCDS58086.1, CCDS58087.1, CCDS73157.1 10q23.1 2012-11-06 2012-11-06 2012-11-06 ENSG00000133678 ENSG00000133678 80195 25804 protein-coding gene gene with protein product chromosome 10 open reading frame 57 C10orf57 NA 14702039 Standard NM_025125 NM_025125 NA Approved FLJ13263, bA369J21.6 uc010qlw.3 Q8TBM7 OTTHUMG00000018602 ENST00000372281.3:c.*1058T>C chr10.hg19:g.81851731T>C NA D3DWC8|Q53HP4|Q5JTC0|Q5JTC1|Q6IA45|Q9H8S6 hg19 CCDS7363.1 0.02 15.484317 TTAxTCA COVERED NOVEL TMEM254-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000049030.1 1 17.753369 KEEP 0 0 0 59 1880 TT 1 1 0 + 12 60 459 0 0 28.347477 379 60 13982 565 ENST00000372281.3 0.030691 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 82004400 82004400 __UNKNOWN__ IGR SNP T T C rs149610022 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:82004400T>C NA NA LINC00857 (24987 upstream) : AL359195.1 (5065 downstream) NA NA NA AATTCAGTCATTACTGAGAAT 0.403 NA T||| 1202 0.240016 0.1165 0.2565 5008 , , NA 19702 0.4692 NA 0.2157 False NA ,,, NA NA NA 2504 0.184 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.82004400T>C NA hg19 0.02 15.183521 TCAxTAC COVERED NOVEL 0 1 21.0606 KEEP 104 0 0 70 2151 TT 1 1 0 12 49 453 0 0 28.22888 345 50 12653 569 0.033613 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 82005488 82005488 __UNKNOWN__ IGR SNP G G T rs2260784 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:82005488G>T NA NA LINC00857 (26075 upstream) : AL359195.1 (3977 downstream) NA NA NA aattgaggccgactagcatgt 0.428 NA T||| 1580 0.315495 0.289 0.304 5008 , , NA 20681 0.4702 NA 0.2893 False NA ,,, NA NA NA 2504 0.227 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.82005488G>T NA hg19 0.02 22.532648 GCCxACT COVERED NOVEL 0 3 11.437572 KEEP 4 3 91 70 2317 GG 1 1 0 17 60 610 0 0 36.023595 546 60 19112 765 0.030195 1 AL359195.1 0 __UNKNOWN__ __UNKNOWN__ 10 82013119 82013119 __UNKNOWN__ Missense_Mutation SNP G G A rs12411806 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:82013119G>A ENST00000356374.4 + 1 3654 c.637G>A c.(637-639)Ggt>Agt p.G213S NA NA NA GAATCTCCTCGGTTACTTCAA 0.542 NA g||| 1367 0.272963 0.1369 0.2911 5008 , , NA 19553 0.4673 NA 0.2863 False NA ,,, NA NA NA 2504 0.2301 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense NA NA NA NA ENST00000356374.4:c.637G>A chr10.hg19:g.82013119G>A ENSP00000348738:p.Gly213Ser NA hg19 0.02 15.585718 CTCxGTT COVERED 628 0.2875457875457875 52 0.10569105691056911 90 0.24861878453038674 268 0.46853146853146854 218 0.287598944591029 g 3.077 -0.189930 0.06299 . . ENSG00000204038 ENST00000356374 . . . 0.195 -0.39 0.12450 . . . . . T 0.00012 0.0000 . . . . . . . . . . . . T 0.46484 -0.9188 3 0.87932 D 0 . . . . rs12411806;rs17102150;rs58242766;rs12411806 . . . S 213 . ENSP00000348738:G213S G + 1 0 AL359195.1 82003099 0.000000 0.05858 0.002000 0.10522 0.002000 0.02628 -0.730000 0.04915 -2.142000 0.00804 -2.155000 0.00331 GGT NOVEL AL359195.1-201 KNOWN basic|appris_principal protein_coding NA protein_coding 0 13.842617 KEEP 0 0 0 46 1534 GG 1 1 0 + 13 60 470 0 0 28.581149 372 60 12661 492 ENST00000356374.4 0.033766 1 TSPAN14 81619 __UNKNOWN__ __UNKNOWN__ 10 82279927 82279927 __UNKNOWN__ 3'UTR SNP C C T rs873259 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:82279927C>T ENST00000429989.3 + 0 3231 TSPAN14_ENST00000372164.3_3'UTR NM_030927.2 NP_112189.2 Q8NG11 TSN14_HUMAN tetraspanin 14 NA NA establishment of protein localization to plasma membrane (GO:0090002)|positive regulation of Notch signaling pathway (GO:0045747)|protein maturation (GO:0051604) cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197) enzyme binding (GO:0019899) central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1) 7 Colorectal(32;0.229) GAGTGGGTGGCCACAGACCCT 0.607 NA C||| 2171 0.433506 0.1135 0.5014 5008 , , NA 17448 0.8155 NA 0.4652 False NA ,,, NA NA NA 2504 0.3916 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF311903 CCDS7369.1, CCDS44448.1 10q23.1 2013-02-14 2005-03-21 2005-03-21 ENSG00000108219 ENSG00000108219 81619 Tetraspanins 23303 protein-coding gene gene with protein product transmembrane 4 superfamily member 14 TM4SF14 NA 11230166 Standard NM_030927 NM_030927 NA Approved DC-TM4F2, MGC11352 uc001kcj.4 Q8NG11 OTTHUMG00000018615 ENST00000429989.3:c.*2195C>T chr10.hg19:g.82279927C>T NA A6NHE1|B4DHY6|D3DWD7|D3DWD8|Q567U7|Q9BU34|Q9H0U1 hg19 CCDS7369.1 0.02 8.496411 TGGxCAC COVERED NOVEL TSPAN14-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000049081.2 2 9.330046 KEEP 0 0 0 31 1084 CC 0.999997 0.999997 0 + 15 60 536 0 0 36.894605 208 60 7609 296 ENST00000429989.3 0.067265 1 TSPAN14 81619 __UNKNOWN__ __UNKNOWN__ 10 82279960 82279960 __UNKNOWN__ 3'UTR SNP C C T rs873258 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:82279960C>T ENST00000429989.3 + 0 3264 TSPAN14_ENST00000372164.3_3'UTR NM_030927.2 NP_112189.2 Q8NG11 TSN14_HUMAN tetraspanin 14 NA NA establishment of protein localization to plasma membrane (GO:0090002)|positive regulation of Notch signaling pathway (GO:0045747)|protein maturation (GO:0051604) cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197) enzyme binding (GO:0019899) central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1) 7 Colorectal(32;0.229) TCCTGGAAGGCTCCTGCAGGC 0.572 NA C||| 1870 0.373403 0.0408 0.4438 5008 , , NA 19150 0.8155 NA 0.3877 False NA ,,, NA NA NA 2504 0.3027 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF311903 CCDS7369.1, CCDS44448.1 10q23.1 2013-02-14 2005-03-21 2005-03-21 ENSG00000108219 ENSG00000108219 81619 Tetraspanins 23303 protein-coding gene gene with protein product transmembrane 4 superfamily member 14 TM4SF14 NA 11230166 Standard NM_030927 NM_030927 NA Approved DC-TM4F2, MGC11352 uc001kcj.4 Q8NG11 OTTHUMG00000018615 ENST00000429989.3:c.*2228C>T chr10.hg19:g.82279960C>T NA A6NHE1|B4DHY6|D3DWD7|D3DWD8|Q567U7|Q9BU34|Q9H0U1 hg19 CCDS7369.1 0.02 8.193277 AGGxTCC COVERED NOVEL TSPAN14-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000049081.2 1 8.427467 KEEP 0 0 0 28 1011 CC 0.999997 0.999997 0 + 12 60 431 0 0 28.806153 200 60 7562 283 ENST00000429989.3 0.056604 1 NRG3 10718 __UNKNOWN__ __UNKNOWN__ 10 84745256 84745256 __UNKNOWN__ Silent SNP C C T rs2295933 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:84745256C>T ENST00000372141.2 + 9 2013 c.1986C>T c.(1984-1986)agC>agT p.S662S NRG3_ENST00000372142.2_Silent_p.S465S|NRG3_ENST00000537893.1_Silent_p.S312S|NRG3_ENST00000556918.1_Silent_p.S492S|NRG3_ENST00000404547.1_Silent_p.S686S|NRG3_ENST00000545131.1_Silent_p.S312S|NRG3_ENST00000404576.2_Silent_p.S466S NM_001010848.3|NM_001165972.1 NP_001010848.2|NP_001159444.1 P56975 NRG3_HUMAN neuregulin 3 686 NA activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558) extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887) growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297) breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) ACAGTGCAAGCGAAAACACAG 0.483 NA C||| 2352 0.469649 0.4236 0.4438 5008 , , NA 17216 0.6637 NA 0.3439 False NA ,,, NA NA NA 2504 0.4796 NA NA NA NA 0 C ,, 1867,2539 538.7+/-375.1 389,1089,725 80 73 75 1986,1983,1395 0.6 1 10 dbSNP_100 75 2565,6035 418.3+/-352.7 386,1793,2121 no coding-synonymous,coding-synonymous,coding-synonymous NRG3 NM_001010848.3,NM_001165972.1,NM_001165973.1 ,, 775,2882,2846 TT,TC,CC 29.8256,42.374,34.0766 ,, 662/697,661/696,465/500 84745256 4432,8574 2203 4300 6503 SO:0001819 synonymous_variant AK098823 CCDS31233.1, CCDS53547.1 10q22-q23 2003-09-09 ENSG00000185737 ENSG00000185737 10718 7999 protein-coding gene gene with protein product 605533 NA 9275162 Standard XM_166086 NM_001010848 NA Approved uc001kco.2 P56975 OTTHUMG00000018626 ENST00000372141.2:c.1986C>T chr10.hg19:g.84745256C>T NA A4D7U1|Q0PEH2|Q5VYH3 hg19 CCDS31233.1 0.02 18.150522 AAGxGAA COVERED NOVEL NRG3-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000412261.1 5 14.416241 KEEP 0 2 63 70 2450 CC 1 1 0 + 12 60 436 0 0 24.929323 472 60 16890 663 ENST00000372141.2 0.024793 1 GHITM 27069 __UNKNOWN__ __UNKNOWN__ 10 85903726 85903726 __UNKNOWN__ Intron SNP C C G rs2306320 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:85903726C>G ENST00000372134.3 + 4 422 NM_014394.2 NP_055209.2 Q9H3K2 GHITM_HUMAN growth hormone inducible transmembrane protein NA NA apoptotic process (GO:0006915) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743) breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2) 10 CAGTACTAACCTGCATTTCCT 0.428 NA C||| 1700 0.339457 0.5219 0.1859 5008 , , NA 19461 0.3889 NA 0.1461 False NA ,,, NA NA NA 2504 0.3497 NA NA NA NA 0 C 1821,2131 407,1007,562 213 202 206 -10.9 0 10 dbSNP_100 206 1193,7091 89,1015,3038 no intron GHITM NM_014394.2 496,2022,3600 GG,GC,CC 14.4013,46.0779,24.6322 85903726 3014,9222 1976 4142 6118 SO:0001627 intron_variant AB009685 CCDS41542.1 10q23.1 2008-02-01 ENSG00000165678 ENSG00000165678 27069 17281 protein-coding gene gene with protein product transmembrane BAX inhibitor motif containing 5 NA 8619474, 9110174 Standard NM_014394 NM_014394 NA Approved HSPC282, PTD010, DERP2, My021, TMBIM5 uc001kcs.1 Q9H3K2 OTTHUMG00000018637 ENST00000372134.3:c.230-25C>G chr10.hg19:g.85903726C>G NA A8K9Z9|D3DWE0|O95894|Q5VT95|Q9H0P2 hg19 CCDS41542.1 0.02 4.273705 AACxTGC COVERED NOVEL GHITM-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000049125.1 0 13.845141 KEEP 0 0 0 46 1628 CC 1 1 0 + 7 60 238 0 0 15.14698 130 60 4768 230 ENST00000372134.3 0.051095 1 BMPR1A 657 __UNKNOWN__ __UNKNOWN__ 10 88684422 88684422 __UNKNOWN__ 3'UTR SNP A A G rs61856966 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:88684422A>G ENST00000372037.3 + 0 3082 NM_004329.2 NP_004320.2 P36894 BMR1A_HUMAN bone morphogenetic protein receptor, type IA NA NA BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|developmental growth (GO:0048589)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic digit morphogenesis (GO:0042733)|embryonic organ development (GO:0048568)|endocardial cushion formation (GO:0003272)|heart formation (GO:0060914)|hindlimb morphogenesis (GO:0035137)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lateral mesoderm development (GO:0048368)|lung development (GO:0030324)|mesendoderm development (GO:0048382)|mesoderm formation (GO:0001707)|Mullerian duct regression (GO:0001880)|negative regulation of neurogenesis (GO:0050768)|neural crest cell development (GO:0014032)|neural plate mediolateral regionalization (GO:0021998)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|paraxial mesoderm structural organization (GO:0048352)|pituitary gland development (GO:0021983)|positive regulation of bone mineralization (GO:0030501)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of lateral mesodermal cell fate specification (GO:0048378)|somitogenesis (GO:0001756)|stem cell maintenance (GO:0019827)|transforming growth factor beta receptor signaling pathway (GO:0007179) dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1) 24 ACCATGTTCTATATTCTTTAT 0.323 NA Mis, N, F gastrointestinal polyps Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2 NA NA NA NA NA NA NA NA NA Ovarian(190;603 2086 22044 30335 47971) yes Rec Juvenile polyposis 10 10q22.3 657 bone morphogenetic protein receptor, type IA E 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Familial Cancer Database incl.: Juvenile Polyposis of the Stomach;HMPS2 BC028383 CCDS7378.1 10q22.3 2014-09-17 ENSG00000107779 ENSG00000107779 657 CD molecules 1076 protein-coding gene gene with protein product 601299 ACVRLK3 NA 8397373, 9730621 Standard NM_004329 NM_004329 NA Approved ALK3, CD292 uc001kdy.3 P36894 OTTHUMG00000018657 ENST00000372037.3:c.*946A>G chr10.hg19:g.88684422A>G NA A8K6U9|Q8NEN8 hg19 CCDS7378.1 0.02 23.582017 TCTxTAT COVERED NOVEL BMPR1A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000049170.3 6 10.940259 KEEP 35 3 111 75 2393 AA 1 1 0 + 23 40 855 0 0 55.961366 478 60 17064 694 ENST00000372037.3 0.045908 1 ADIRF 10974 __UNKNOWN__ __UNKNOWN__ 10 88730374 88730374 __UNKNOWN__ 3'UTR SNP C C T rs7960 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:88730374C>T ENST00000372013.3 + 0 619 RP11-96C23.15_ENST00000609363.1_RNA|ADIRF-AS1_ENST00000609111.1_RNA|ADIRF-AS1_ENST00000418273.2_RNA NM_006829.2 NP_006820.1 Q15847 ADIRF_HUMAN adipogenesis regulatory factor NA NA cell differentiation (GO:0030154)|cellular response to cisplatin (GO:0072719)|cellular response to radiation (GO:0071478)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of response to drug (GO:2001023)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) NA CCTGAAATGACAGCAGGGAGA 0.587 NA c||| 2019 0.403155 0.2126 0.2882 5008 , , NA 16707 0.6855 NA 0.4751 False NA ,,, NA NA NA 2504 0.3773 NA NA NA NA 0 C 1062,3344 145,772,1286 35 33 34 1.9 0 10 dbSNP_52 34 3743,4855 791,2161,1347 no utr-3 C10orf116 NM_006829.2 936,2933,2633 TT,TC,CC 43.5334,24.1035,36.9502 88730374 4805,8199 2203 4299 6502 SO:0001624 3_prime_UTR_variant BC004471 CCDS7381.1 10q23.31 2013-02-20 2013-02-20 2013-02-20 ENSG00000148671 ENSG00000148671 10974 24043 protein-coding gene gene with protein product adipose specific 2, adipose most abundant gene transcript 2, adipogenesis factor rich in obesity chromosome 10 open reading frame 116 C10orf116 NA 8619847, 23239344 Standard NM_006829 NM_006829 NA Approved APM2, AFRO uc001ked.2 Q15847 OTTHUMG00000018668 ENST00000372013.3:c.*35C>T chr10.hg19:g.88730374C>T NA hg19 CCDS7381.1 0.02 23.402608 TGAxAGC COVERED NOVEL ADIRF-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000049194.1 3 106.762764 KEEP 0 1 26 364 12991 CC 1 1 0 + 21 60 711 0 0 42.850152 532 60 20066 1184 ENST00000372013.3 0.037975 1 GLUD1 2746 __UNKNOWN__ __UNKNOWN__ 10 88820789 88820789 __UNKNOWN__ Silent SNP T T C rs9421572 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:88820789T>C ENST00000277865.4 - 7 1038 c.942A>G c.(940-942)ctA>ctG p.L314L GLUD1_ENST00000537649.1_Silent_p.L147L|GLUD1_ENST00000465164.1_5'UTR|GLUD1_ENST00000544149.1_Silent_p.L181L NM_005271.3 NP_005262.1 P00367 DHE3_HUMAN glutamate dehydrogenase 1 314 NA cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamine metabolic process (GO:0006541)|positive regulation of insulin secretion (GO:0032024)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|tricarboxylic acid metabolic process (GO:0072350) cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739) ADP binding (GO:0043531)|ATP binding (GO:0005524)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|identical protein binding (GO:0042802)|leucine binding (GO:0070728)|NAD+ binding (GO:0070403) endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1) 22 Hexachlorophene(DB00756) TCATAGAGTGTAGGCCCACAT 0.378 NA T||| 840 0.167732 0.0023 0.1023 5008 , , NA 17017 0.5724 NA 0.1074 False NA ,,, NA NA NA 2504 0.0828 NA NA NA NA 0 T 105,4301 82.4+/-120.9 1,103,2099 191 190 190 942 1.6 1 10 dbSNP_119 190 798,7802 187.2+/-234.5 34,730,3536 no coding-synonymous GLUD1 NM_005271.3 35,833,5635 CC,CT,TT 9.2791,2.3831,6.9429 314/559 88820789 903,12103 2203 4300 6503 SO:0001819 synonymous_variant M20867 CCDS7382.1 10q23.2 2010-03-17 ENSG00000148672 ENSG00000148672 2746 1.4.1.3 4335 protein-coding gene gene with protein product 138130 GLUD NA 2757358 Standard NM_005271 NM_005271 NA Approved GDH uc001keh.3 P00367 OTTHUMG00000018666 ENST00000277865.4:c.942A>G chr10.hg19:g.88820789T>C NA B3KV55|B4DGN5|Q5TBU3 hg19 CCDS7382.1 0.02 17.571871 GTGxAGG COVERED NOVEL GLUD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000049188.1 1 25.558353 KEEP 6 0 0 85 2584 TT 1 1 0 - 14 60 557 0 0 36.71931 344 60 12182 530 ENST00000277865.4 0.039106 1 NUTM2D 728130 __UNKNOWN__ __UNKNOWN__ 10 89127945 89127945 __UNKNOWN__ 3'UTR SNP C C A rs199961639 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:89127945C>A ENST00000412718.1 + 0 3036 Q5VT03 NTM2D_HUMAN NUT family member 2D NA NA NA GGAGGATGCTCTGCTCTTTCC 0.572 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant 10q23.31 2013-03-14 2013-03-14 2013-03-14 ENSG00000214562 ENSG00000214562 728130 23447 protein-coding gene gene with protein product family with sequence similarity 22, member D FAM22D NA Standard NR_075100 NR_075100 NA Approved uc001kes.3 Q5VT03 OTTHUMG00000018672 ENST00000412718.1:c.*816C>A chr10.hg19:g.89127945C>A NA A6NGV9 hg19 CCDS41546.1 0.02 2.105637 GCTxTGC COVERED NOVEL NUTM2D-005 NOVEL basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000471068.1 1 4.813941 KEEP 54 0 0 16 538 CC 0.99257 0.969607 0 + 4 24 152 0 0 10.884603 51 47 1994 138 ENST00000412718.1 0.072727 0.976865 PAPSS2 9060 __UNKNOWN__ __UNKNOWN__ 10 89506316 89506316 __UNKNOWN__ 3'UTR SNP T T C rs57020146 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:89506316T>C ENST00000361175.4 + 0 2803 PAPSS2_ENST00000456849.1_3'UTR NM_004670.3 NP_004661.2 O95340 PAPS2_HUMAN 3'-phosphoadenosine 5'-phosphosulfate synthase 2 NA NA 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|blood coagulation (GO:0007596)|bone development (GO:0060348)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805) cytosol (GO:0005829) adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1) 20 Melanoma(5;0.019)|Colorectal(252;0.123) UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124) TGCAATAACGTGAATTTTATC 0.348 NA T||| 760 0.151757 0.1483 0.0245 5008 , , NA 19570 0.3988 NA 0.0199 False NA ,,, NA NA NA 2504 0.1278 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF091242 CCDS7385.1, CCDS44453.1 10q24 2008-02-07 ENSG00000198682 ENSG00000198682 9060 2.7.7.4, 2.7.1.25 8604 protein-coding gene gene with protein product 603005 NA 9771708 Standard NM_004670 NA Approved ATPSK2 uc001kex.3 O95340 OTTHUMG00000018683 ENST00000361175.4:c.*589T>C chr10.hg19:g.89506316T>C NA Q9BZL2|Q9P0G6|Q9UHM1|Q9UKD3|Q9UP30 hg19 CCDS7385.1 0.02 10.345908 ACGxGAA COVERED NOVEL PAPSS2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000049229.1 0 19.256873 KEEP 0 0 0 64 1991 TT 1 1 0 + 9 60 317 0 0 18.82733 264 60 9510 405 ENST00000361175.4 0.032967 1 RNLS 55328 __UNKNOWN__ __UNKNOWN__ 10 90343398 90343398 __UNKNOWN__ 5'UTR SNP A A G rs2576178 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:90343398A>G ENST00000371947.3 - 0 889 NM_018363.3 NP_060833.1 Q5VYX0 RNLS_HUMAN renalase, FAD-dependent amine oxidase NA NA cardiac left ventricle morphogenesis (GO:0003214)|dopamine metabolic process (GO:0042417)|epinephrine metabolic process (GO:0042414)|heart contraction (GO:0060047)|norepinephrine metabolic process (GO:0042415)|phosphate ion homeostasis (GO:0055062)|regulation of systemic arterial blood pressure (GO:0003073)|response to epinephrine (GO:0071871)|response to ischemia (GO:0002931)|response to norepinephrine (GO:0071873)|response to salt (GO:1902074) extracellular space (GO:0005615) oxidoreductase activity (GO:0016491) breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1) 7 AGAATTTACCAGCGATACCAC 0.408 NA OREG0020353 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) A||| 1724 0.344249 0.2685 0.4395 5008 , , NA 19104 0.5268 NA 0.2684 False NA ,,, NA NA NA 2504 0.2689 NA NA NA NA 0 GRCh37 CR075241 RNLS R rs2576178 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant BC005364 CCDS7388.1, CCDS31239.1 10q23.31 2009-04-22 2009-04-22 2009-04-22 ENSG00000184719 ENSG00000184719 55328 25641 protein-coding gene gene with protein product 609360 chromosome 10 open reading frame 59 C10orf59 NA 15841207, 17565281 Standard NM_018363 NM_001031709 NA Approved FLJ11218, renalase uc001kfe.3 Q5VYX0 OTTHUMG00000018692 ENST00000371947.3:c.-451T>C chr10.hg19:g.90343398A>G 1274 Q9BS33|Q9NUP8 hg19 CCDS7388.1 0.02 8.773337 ACCxGCG COVERED NOVEL RNLS-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000049249.1 3 21.298389 KEEP 0 1 35 83 2606 AA 1 1 0 - 10 60 293 0 0 15.827789 272 60 10025 417 ENST00000371947.3 0.035461 1 LIPF 8513 __UNKNOWN__ __UNKNOWN__ 10 90438207 90438207 __UNKNOWN__ Silent SNP A A G rs1228187 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:90438207A>G ENST00000238983.4 + 10 1012 c.966A>G c.(964-966)caA>caG p.Q322Q LIPF_ENST00000394375.3_Silent_p.Q332Q|LIPF_ENST00000355843.2_Silent_p.Q299Q|LIPF_ENST00000608620.1_Silent_p.Q289Q NM_004190.3 NP_004181.1 P07098 LIPG_HUMAN lipase, gastric 322 NA lipid catabolic process (GO:0016042)|malate metabolic process (GO:0006108)|triglyceride metabolic process (GO:0006641) extracellular region (GO:0005576)|mitochondrion (GO:0005739) lipid binding (GO:0008289)|malate dehydrogenase activity (GO:0016615)|triglyceride lipase activity (GO:0004806) NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6) 13 Colorectal(252;0.0161) Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05) Orlistat(DB01083) TCTAGTCCCAACCTCCCTACT 0.448 NA A||| 1144 0.228435 0.1248 0.3069 5008 , , NA 19364 0.3274 NA 0.2107 False NA ,,, NA NA NA 2504 0.229 NA NA NA NA 0 A ,,, 618,3788 268.9+/-268.7 43,532,1628 186 170 175 867,996,897,966 -9.7 0 10 dbSNP_87 175 1777,6823 321.5+/-315.1 196,1385,2719 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous LIPF NM_001198828.1,NM_001198829.1,NM_001198830.1,NM_004190.3 ,,, 239,1917,4347 GG,GA,AA 20.6628,14.0263,18.4146 ,,, 289/366,332/409,299/376,322/399 90438207 2395,10611 2203 4300 6503 SO:0001819 synonymous_variant X05997 CCDS7389.1, CCDS55718.1, CCDS55719.1, CCDS65896.1 10q23 2005-10-30 ENSG00000182333 ENSG00000182333 8513 3.1.1.3 6622 protein-coding gene gene with protein product 601980 NA 3304425, 9186906 Standard NM_004190 NA Approved HGL, HLAL uc010qmt.2 P07098 OTTHUMG00000018695 ENST00000238983.4:c.966A>G chr10.hg19:g.90438207A>G NA B7Z723|F5H1P4|Q2M1P6|Q5VXI7|Q5VXI8|Q658L8 hg19 CCDS7389.1 0.02 17.968796 CCAxCCT COVERED NOVEL LIPF-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000049256.1 2 13.541251 KEEP 0 0 0 45 1457 AA 1 1 0 + 11 60 419 0 0 24.856543 426 60 15120 588 ENST00000238983.4 0.025172 1 LIPK 643414 __UNKNOWN__ __UNKNOWN__ 10 90490921 90490921 __UNKNOWN__ Silent SNP G G A rs412227 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:90490921G>A ENST00000404190.1 + 3 405 c.405G>A c.(403-405)ccG>ccA p.P135P NM_001080518.1 NP_001073987.1 Q5VXJ0 LIPK_HUMAN lipase, family member K 135 NA lipid catabolic process (GO:0016042) extracellular region (GO:0005576) hydrolase activity, acting on ester bonds (GO:0016788) endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2) 12 Colorectal(252;0.0381) Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05) CGAAATCACCGGAATACTGGG 0.413 NA A||| 1288 0.257188 0.1899 0.2853 5008 , , NA 21082 0.3462 NA 0.2137 False NA ,,, NA NA NA 2504 0.2812 NA NA NA NA 0 A 729,3079 70,589,1245 49 47 48 405 0 0 10 dbSNP_80 48 1786,6516 224,1338,2589 no coding-synonymous LIPK NM_001080518.1 294,1927,3834 AA,AG,GG 21.5129,19.1439,20.768 135/400 90490921 2515,9595 1904 4151 6055 SO:0001819 synonymous_variant CCDS44455.1 10q23.31 2008-02-04 2007-02-27 2007-02-27 ENSG00000204021 ENSG00000204021 643414 23444 protein-coding gene gene with protein product 613922 lipase-like, ab-hydrolase domain containing 2 LIPL2 NA Standard XM_061222 NM_001080518 NA Approved bA186O14.2 uc010qmv.2 Q5VXJ0 OTTHUMG00000018693 ENST00000404190.1:c.405G>A chr10.hg19:g.90490921G>A NA A7KIH8 hg19 CCDS44455.1 0.02 6.539059 ACCxGAA COVERED NOVEL LIPK-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000049253.2 0 8.727832 KEEP 0 0 0 29 996 GG 0.999997 0.999997 0 + 8 60 297 0 0 19.933613 143 60 5036 211 ENST00000404190.1 0.05298 1 LIPK 643414 __UNKNOWN__ __UNKNOWN__ 10 90497588 90497588 __UNKNOWN__ Intron SNP A A G rs444764 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:90497588A>G ENST00000404190.1 + 6 816 NM_001080518.1 NP_001073987.1 Q5VXJ0 LIPK_HUMAN lipase, family member K NA NA lipid catabolic process (GO:0016042) extracellular region (GO:0005576) hydrolase activity, acting on ester bonds (GO:0016788) endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2) 12 Colorectal(252;0.0381) Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05) GTTGCACAGAAGTGATGAAAG 0.368 NA G||| 1283 0.25619 0.1959 0.2896 5008 , , NA 21884 0.3502 NA 0.2137 False NA ,,, NA NA NA 2504 0.2607 NA NA NA NA 0 G 389,1603 39,311,646 55 51 52 -1.7 0 10 dbSNP_80 52 949,3275 129,691,1292 no intron LIPK NM_001080518.1 168,1002,1938 GG,GA,AA 22.4669,19.5281,21.5251 90497588 1338,4878 996 2112 3108 SO:0001627 intron_variant CCDS44455.1 10q23.31 2008-02-04 2007-02-27 2007-02-27 ENSG00000204021 ENSG00000204021 643414 23444 protein-coding gene gene with protein product 613922 lipase-like, ab-hydrolase domain containing 2 LIPL2 NA Standard XM_061222 NM_001080518 NA Approved bA186O14.2 uc010qmv.2 Q5VXJ0 OTTHUMG00000018693 ENST00000404190.1:c.816+50A>G chr10.hg19:g.90497588A>G NA A7KIH8 hg19 CCDS44455.1 0.02 7.832528 AGAxGTG COVERED NOVEL LIPK-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000049253.2 0 5.113846 KEEP 0 0 0 17 514 AA 0.999366 0.999366 0 + 10 60 358 0 0 22.932183 209 60 7724 254 ENST00000404190.1 0.045662 1 LIPK 643414 __UNKNOWN__ __UNKNOWN__ 10 90503075 90503075 __UNKNOWN__ Silent SNP T T C rs390152 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:90503075T>C ENST00000404190.1 + 8 957 c.957T>C c.(955-957)caT>caC p.H319H NM_001080518.1 NP_001073987.1 Q5VXJ0 LIPK_HUMAN lipase, family member K 319 NA lipid catabolic process (GO:0016042) extracellular region (GO:0005576) hydrolase activity, acting on ester bonds (GO:0016788) endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2) 12 Colorectal(252;0.0381) Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05) TGCACTTCCATCAGGTACAAA 0.363 NA C||| 1291 0.257788 0.1959 0.2911 5008 , , NA 17658 0.3502 NA 0.2207 False NA ,,, NA NA NA 2504 0.2607 NA NA NA NA 0 C 767,2963 81,605,1179 76 71 72 957 -3.8 0 10 dbSNP_80 72 1837,6373 244,1349,2512 no coding-synonymous LIPK NM_001080518.1 325,1954,3691 CC,CT,TT 22.3752,20.563,21.809 319/400 90503075 2604,9336 1865 4105 5970 SO:0001819 synonymous_variant CCDS44455.1 10q23.31 2008-02-04 2007-02-27 2007-02-27 ENSG00000204021 ENSG00000204021 643414 23444 protein-coding gene gene with protein product 613922 lipase-like, ab-hydrolase domain containing 2 LIPL2 NA Standard XM_061222 NM_001080518 NA Approved bA186O14.2 uc010qmv.2 Q5VXJ0 OTTHUMG00000018693 ENST00000404190.1:c.957T>C chr10.hg19:g.90503075T>C NA A7KIH8 hg19 CCDS44455.1 0.02 4.375384 CCAxCAG COVERED NOVEL LIPK-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000049253.2 0 5.115505 KEEP 0 0 0 17 538 TT 0.999366 0.999363 0 + 8 60 302 0 0 21.439355 106 60 3938 168 ENST00000404190.1 0.070175 0.999996 LIPK 643414 __UNKNOWN__ __UNKNOWN__ 10 90512306 90512306 __UNKNOWN__ Missense_Mutation SNP G G C rs1214464 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:90512306G>C ENST00000404190.1 + 9 993 c.993G>C c.(991-993)atG>atC p.M331I NM_001080518.1 NP_001073987.1 Q5VXJ0 LIPK_HUMAN lipase, family member K 331 NA M -> I (in dbSNP:rs1214464). lipid catabolic process (GO:0016042) extracellular region (GO:0005576) hydrolase activity, acting on ester bonds (GO:0016788) endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2) 12 Colorectal(252;0.0381) Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05) TTACTAAGATGGAAGTTCCAA 0.323 NA G||| 927 0.185104 0.0068 0.2781 5008 , , NA 18940 0.2877 NA 0.2097 False NA ,,, NA NA NA 2504 0.229 NA NA NA NA 0 G ILE/MET 181,3549 7,167,1691 39 36 37 993 3.7 1 10 dbSNP_87 37 1687,6529 201,1285,2622 yes missense LIPK NM_001080518.1 10 208,1452,4313 CC,CG,GG 20.5331,4.8525,15.637 possibly-damaging 331/400 90512306 1868,10078 1865 4108 5973 SO:0001583 missense CCDS44455.1 10q23.31 2008-02-04 2007-02-27 2007-02-27 ENSG00000204021 ENSG00000204021 643414 23444 protein-coding gene gene with protein product 613922 lipase-like, ab-hydrolase domain containing 2 LIPL2 NA Standard XM_061222 NM_001080518 NA Approved bA186O14.2 uc010qmv.2 Q5VXJ0 OTTHUMG00000018693 ENST00000404190.1:c.993G>C chr10.hg19:g.90512306G>C ENSP00000383900:p.Met331Ile NA A7KIH8 hg19 CCDS44455.1 0.02 6.367122 GATxGAA COVERED 404 0.184981684981685 4 0.008130081300813009 79 0.21823204419889503 168 0.2937062937062937 153 0.20184696569920843 G 14.84 2.655169 0.47467 0.048525 0.205331 ENSG00000204021 ENST00000404190 T 0.62498 0.02 5.65 3.69 0.42338 Alpha/beta hydrolase fold-1 (1); 0.373592 0.26991 N 0.021464 T 0.00012 0.0000 N 0.12920 0.275 0.30831 P 0.7366900000000001 B 0.30281 0.275 B 0.35899 0.213 T 0.11665 -1.0578 9 0.09590 T 0.72 -12.5189 10.4283 0.44391 0.0:0.1445:0.7055:0.15 rs1214464;rs56611384;rs1214464 331 Q5VXJ0 LIPK_HUMAN I 331 ENSP00000383900:M331I ENSP00000383900:M331I M + 3 0 LIPK 90502286 0.997000 0.39634 0.997000 0.53966 0.991000 0.79684 2.593000 0.46180 1.583000 0.49898 0.655000 0.94253 ATG NOVEL LIPK-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000049253.2 0 3.611906 KEEP 0 0 0 12 433 GG 0.993634 0.993634 0 + 6 60 219 0 0 13.331169 175 60 6587 214 ENST00000404190.1 0.033149 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 90512662 90512662 __UNKNOWN__ IGR SNP T T G rs184228 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:90512662T>G NA NA LIPK (119 upstream) : LIPN (8500 downstream) NA NA NA atgagacttctttcaagccaa 0.403 NA G||| 1357 0.270966 0.2436 0.2954 5008 , , NA 21209 0.3502 NA 0.2207 False NA ,,, NA NA NA 2504 0.2607 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.90512662T>G NA hg19 0.02 8.822107 TTCxTTC COVERED NOVEL 0 1 3.912238 KEEP 0 0 0 13 431 TT 0.994391 0.994391 0 9 60 337 0 0 21.680441 211 60 7492 237 0.040909 1 LIPN 643418 __UNKNOWN__ __UNKNOWN__ 10 90528499 90528499 __UNKNOWN__ Intron SNP C C T rs450011 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:90528499C>T ENST00000404459.1 + 5 535 NM_001102469.1 NP_001095939.1 Q5VXI9 LIPN_HUMAN lipase, family member N NA NA lipid catabolic process (GO:0016042) extracellular region (GO:0005576) hydrolase activity, acting on ester bonds (GO:0016788) endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1) 9 Colorectal(252;0.0161) Colorectal(12;4.83e-05)|COAD - Colon adenocarcinoma(12;6.5e-05) GTTAGAAACACTGCGTAAGTA 0.368 NA T||| 808 0.161342 0.1831 0.2262 5008 , , NA 18276 0.1002 NA 0.1769 False NA ,,, NA NA NA 2504 0.1329 NA NA NA NA 0 45 42 43 NA NA 10 NA 90528499 1833 4084 5917 SO:0001627 intron_variant CCDS44456.1 10q23.31 2013-09-20 2007-02-27 2007-02-27 ENSG00000204020 ENSG00000204020 643418 23452 protein-coding gene gene with protein product 613924 lipase-like, ab-hydrolase domain containing 4 LIPL4 NA Standard XM_926751 NM_001102469 NA Approved bA186O14.3 uc010qmw.2 Q5VXI9 OTTHUMG00000018694 ENST00000404459.1:c.536-50C>T chr10.hg19:g.90528499C>T NA A7KIH9 hg19 CCDS44456.1 0.02 10.272075 ACAxTGC COVERED NOVEL LIPN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000049254.2 4 13.178241 KEEP 0 1 32 55 1973 CC 1 1 0 + 8 60 290 0 0 17.178056 262 60 9888 380 ENST00000404459.1 0.02963 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 90545972 90545972 __UNKNOWN__ IGR SNP T T G rs303478 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:90545972T>G NA NA LIPN (7973 upstream) : LIPM (16514 downstream) NA NA NA GGTGAGGGAATATCATCAACT 0.542 NA G||| 4446 0.88778 0.9887 0.8501 5008 , , NA 20713 0.996 NA 0.6948 False NA ,,, NA NA NA 2504 0.865 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.90545972T>G NA hg19 0.02 1.9103 GAAxATC COVERED NOVEL 0 1 3.610507 KEEP 0 0 0 12 366 TT 0.993634 0.993596 0 7 60 261 0 0 18.427957 93 60 3379 132 0.07 0.999962 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 90546007 90546007 __UNKNOWN__ IGR SNP A A G rs303479 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:90546007A>G NA NA LIPN (8008 upstream) : LIPM (16479 downstream) NA NA NA ATGTACACACACCCACCCTGG 0.507 NA G||| 4443 0.887181 0.9887 0.8487 5008 , , NA 21961 0.996 NA 0.6948 False NA ,,, NA NA NA 2504 0.863 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.90546007A>G NA hg19 0.02 4.814788 CACxCCC COVERED NOVEL 0 0 4.81387 KEEP 0 0 0 16 491 AA 0.997832 0.99783 0 6 60 191 0 0 12.030593 115 60 4044 176 0.049587 0.999999 LIPM 340654 __UNKNOWN__ __UNKNOWN__ 10 90562705 90562705 __UNKNOWN__ Missense_Mutation SNP T T A rs117982455 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:90562705T>A ENST00000404743.4 + 1 219 c.52T>A c.(52-54)Tgg>Agg p.W18R LIPM_ENST00000539337.1_5'UTR NM_001128215.1 NP_001121687.1 Q5VYY2 LIPM_HUMAN lipase, family member M 18 NA lipid catabolic process (GO:0016042) extracellular region (GO:0005576) hydrolase activity, acting on ester bonds (GO:0016788) breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)|skin(1) 7 AATGGAAATGTGGCTTCTGAT 0.393 NA T||| 190 0.0379393 0.0 0.0865 5008 , , NA 19209 0.0853 NA 0.001 False NA ,,, NA NA NA 2504 0.044 NA NA NA NA 0 T ARG/TRP 2,1382 0,2,690 173 154 160 52 4.9 1 10 dbSNP_132 160 1,3181 0,1,1590 yes missense LIPM NM_001128215.1 101 0,3,2280 AA,AT,TT 0.0314,0.1445,0.0657 possibly-damaging 18/424 90562705 3,4563 692 1591 2283 SO:0001583 missense CCDS44457.1 10q23.31 2008-02-04 2007-02-27 2007-02-27 ENSG00000173239 ENSG00000173239 340654 23455 protein-coding gene gene with protein product 613923 lipase-like, ab-hydrolase domain containing 3 LIPL3 NA Standard XM_291663 NM_001128215 NA Approved bA304I5.1 uc009xtm.1 Q5VYY2 OTTHUMG00000018698 ENST00000404743.4:c.52T>A chr10.hg19:g.90562705T>A ENSP00000383901:p.Trp18Arg NA A6PVS3|B2RXK7|B5MCR3 hg19 CCDS44457.1 0.02 21.838794 ATGxGGC COVERED 60 0.027472527472527472 0 0.0 13 0.03591160220994475 46 0.08041958041958042 1 0.0013192612137203166 T 16.80 3.221925 0.58560 0.001445 3.14E-4 ENSG00000173239 ENST00000404743 T 0.71222 -0.55 4.87 4.87 0.63330 . . . . . T 0.06050 0.0157 N 0.08118 0 0.09310 P 1.0 P 0.41366 0.747 P 0.44897 0.463 T 0.53222 -0.8469 8 0.49607 T 0.09 -0.7406 12.2306 0.54486 0.0:0.0:0.0:1.0 . 18 Q5VYY2 LIPM_HUMAN R 18 ENSP00000383901:W18R ENSP00000383901:W18R W + 1 0 LIPM 90552685 1.000000 0.71417 1.000000 0.80357 0.898000 0.52572 2.646000 0.46630 2.163000 0.67991 0.533000 0.62120 TGG NOVEL LIPM-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000049261.3 4 23.168832 KEEP 0 0 0 77 2421 TT 1 1 0 + 18 60 640 0 0 38.922452 511 60 18543 744 ENST00000404743.4 0.034026 1 LIPM 340654 __UNKNOWN__ __UNKNOWN__ 10 90568010 90568010 __UNKNOWN__ Intron SNP G G A rs12414211 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:90568010G>A ENST00000404743.4 + 2 314 LIPM_ENST00000539337.1_Intron NM_001128215.1 NP_001121687.1 Q5VYY2 LIPM_HUMAN lipase, family member M NA NA lipid catabolic process (GO:0016042) extracellular region (GO:0005576) hydrolase activity, acting on ester bonds (GO:0016788) breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)|skin(1) 7 TTGAGAATATGGCCACAGAGA 0.378 NA A||| 278 0.0555112 0.0 0.0879 5008 , , NA 22410 0.1637 NA 0.004 False NA ,,, NA NA NA 2504 0.0491 NA NA NA NA 0 A 3,1381 0,3,689 135 119 124 -5 0 10 dbSNP_120 124 4,3178 0,4,1587 no intron LIPM NM_001128215.1 0,7,2276 AA,AG,GG 0.1257,0.2168,0.1533 90568010 7,4559 692 1591 2283 SO:0001627 intron_variant CCDS44457.1 10q23.31 2008-02-04 2007-02-27 2007-02-27 ENSG00000173239 ENSG00000173239 340654 23455 protein-coding gene gene with protein product 613923 lipase-like, ab-hydrolase domain containing 3 LIPL3 NA Standard XM_291663 NM_001128215 NA Approved bA304I5.1 uc009xtm.1 Q5VYY2 OTTHUMG00000018698 ENST00000404743.4:c.148-45G>A chr10.hg19:g.90568010G>A NA A6PVS3|B2RXK7|B5MCR3 hg19 CCDS44457.1 0.02 8.784227 TATxGCC COVERED NOVEL LIPM-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000049261.3 3 8.12618 KEEP 0 0 0 27 944 GG 0.999988 0.999988 0 + 7 60 260 0 0 15.519063 240 60 9042 320 ENST00000404743.4 0.02834 1 LIPM 340654 __UNKNOWN__ __UNKNOWN__ 10 90580292 90580292 __UNKNOWN__ 3'UTR SNP C C A rs78586189 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:90580292C>A ENST00000539337.1 + 0 1441 Q5VYY2 LIPM_HUMAN lipase, family member M NA NA lipid catabolic process (GO:0016042) extracellular region (GO:0005576) hydrolase activity, acting on ester bonds (GO:0016788) breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)|skin(1) 7 GGACAACCTCCTGAGGGATGG 0.502 NA A||| 290 0.0579073 0.0 0.0908 5008 , , NA 20094 0.1687 NA 0.006 False NA ,,, NA NA NA 2504 0.0521 NA NA NA NA 0 A , 6,1378 0,6,686 26 19 21 , -5.1 0 10 dbSNP_132 21 9,3173 0,9,1582 no utr-3,utr-3 ANKRD22,LIPM NM_001128215.1,NM_144590.2 , 0,15,2268 AA,AC,CC 0.2828,0.4335,0.3285 , , 90580292 15,4551 692 1591 2283 SO:0001624 3_prime_UTR_variant CCDS44457.1 10q23.31 2008-02-04 2007-02-27 2007-02-27 ENSG00000173239 ENSG00000173239 340654 23455 protein-coding gene gene with protein product 613923 lipase-like, ab-hydrolase domain containing 3 LIPL3 NA Standard XM_291663 NM_001128215 NA Approved bA304I5.1 uc009xtm.1 Q5VYY2 OTTHUMG00000018698 ENST00000539337.1:c.*34C>A chr10.hg19:g.90580292C>A NA A6PVS3|B2RXK7|B5MCR3 hg19 0.02 21.894041 CTCxTGA COVERED NOVEL LIPM-201 KNOWN basic protein_coding NA protein_coding 2 27.390111 KEEP 0 0 0 91 3320 CC 1 1 0 + 25 60 880 0 0 56.170759 508 60 19423 777 ENST00000539337.1 0.046904 1 ACTA2 59 __UNKNOWN__ __UNKNOWN__ 10 90701164 90701164 __UNKNOWN__ Intron SNP C C T rs3816245 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:90701164C>T ENST00000458208.1 - 6 929 STAMBPL1_ENST00000371927.3_Intron|ACTA2_ENST00000224784.6_Intron|ACTA2_ENST00000480297.1_Intron NM_001141945.1 NP_001135417.1 P62736 ACTA_HUMAN actin, alpha 2, smooth muscle, aorta NA NA glomerular mesangial cell development (GO:0072144)|muscle contraction (GO:0006936)|regulation of blood pressure (GO:0008217)|response to virus (GO:0009615)|vascular smooth muscle contraction (GO:0014829) actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|smooth muscle contractile fiber (GO:0030485) ATP binding (GO:0005524)|protein kinase binding (GO:0019901) breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2) 17 Colorectal(252;0.0161) Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018) GACAATTGGGCGTGATAAGTC 0.532 NA C||| 152 0.0303514 0.0008 0.0043 5008 , , NA 20538 0.121 NA 0.003 False NA ,,, NA NA NA 2504 0.0235 NA NA NA NA 0 C , 10,4396 16.8+/-37.8 0,10,2193 79 71 74 , -1.6 0 10 dbSNP_107 74 42,8558 26.8+/-75.7 0,42,4258 no intron,intron ACTA2 NM_001141945.1,NM_001613.2 , 0,52,6451 TT,TC,CC 0.4884,0.227,0.3998 , , 90701164 52,12954 2203 4300 6503 SO:0001627 intron_variant X13839 CCDS7392.1 10q23.31 2014-09-17 ENSG00000107796 ENSG00000107796 59 130 protein-coding gene gene with protein product 102620 NA 2398629 Standard NM_001613 NM_001141945 NA Approved ACTSA uc001kfp.3 P62736 OTTHUMG00000018700 ENST00000458208.1:c.455-17G>A chr10.hg19:g.90701164C>T NA B2R8A4|P03996|P04108|Q6FI19 hg19 CCDS7392.1 0.02 6.35292 GGGxGTG COVERED NOVEL ACTA2-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000049264.1 1 17.736022 KEEP 0 0 0 59 2001 CC 1 1 0 - 6 60 223 0 0 13.533269 189 60 6330 318 ENST00000458208.1 0.030769 1 ACTA2 59 __UNKNOWN__ __UNKNOWN__ 10 90701221 90701221 __UNKNOWN__ Intron SNP G G A rs77231346 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:90701221G>A ENST00000458208.1 - 6 929 STAMBPL1_ENST00000371927.3_Intron|ACTA2_ENST00000224784.6_Intron|ACTA2_ENST00000480297.1_Intron NM_001141945.1 NP_001135417.1 P62736 ACTA_HUMAN actin, alpha 2, smooth muscle, aorta NA NA glomerular mesangial cell development (GO:0072144)|muscle contraction (GO:0006936)|regulation of blood pressure (GO:0008217)|response to virus (GO:0009615)|vascular smooth muscle contraction (GO:0014829) actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|smooth muscle contractile fiber (GO:0030485) ATP binding (GO:0005524)|protein kinase binding (GO:0019901) breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2) 17 Colorectal(252;0.0161) Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018) GTAGAGGGAAGCCTTGGGGGA 0.522 NA G||| 150 0.0299521 0.0008 0.0043 5008 , , NA 19131 0.121 NA 0.003 False NA ,,, NA NA NA 2504 0.0215 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X13839 CCDS7392.1 10q23.31 2014-09-17 ENSG00000107796 ENSG00000107796 59 130 protein-coding gene gene with protein product 102620 NA 2398629 Standard NM_001613 NM_001141945 NA Approved ACTSA uc001kfp.3 P62736 OTTHUMG00000018700 ENST00000458208.1:c.455-74C>T chr10.hg19:g.90701221G>A NA B2R8A4|P03996|P04108|Q6FI19 hg19 CCDS7392.1 0.02 3.588091 GAAxCCT COVERED NOVEL ACTA2-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000049264.1 1 8.104848 KEEP 0 0 0 27 923 GG 0.999997 0.999992 0 - 6 60 181 0 0 10.838115 107 60 3831 155 ENST00000458208.1 0.053097 0.999995 IFIT3 3437 __UNKNOWN__ __UNKNOWN__ 10 91092189 91092189 __UNKNOWN__ Intron SNP C C G rs12255504 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:91092189C>G ENST00000371818.4 + 1 185 LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron NM_001549.4 NP_001540.2 O14879 IFIT3_HUMAN interferon-induced protein with tetratricopeptide repeats 3 NA NA cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337) cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739) identical protein binding (GO:0042802) breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1) 15 CTCACAGATTCTGTTTCAGTT 0.433 NA C||| 1101 0.219848 0.298 0.1888 5008 , , NA 19035 0.2302 NA 0.2326 False NA ,,, NA NA NA 2504 0.1125 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U52513 CCDS7402.1, CCDS31241.1 10q23.31 2014-05-22 2004-07-16 2004-07-16 ENSG00000119917 ENSG00000119917 3437 Tetratricopeptide (TTC) repeat domain containing 5411 protein-coding gene gene with protein product 604650 interferon-induced protein with tetratricopeptide repeats 4 IFIT4 NA 9828129, 9391139 Standard NM_001549 NM_001031683 NA Approved ISG60, RIG-G, CIG-49, IFI60, GARG-49, IRG2 uc001kgg.3 O14879 OTTHUMG00000018708 ENST00000371818.4:c.5+4354C>G chr10.hg19:g.91092189C>G NA Q99634|Q9BSK7 hg19 CCDS7402.1 0.02 18.78386 ATTxTGT COVERED NOVEL IFIT3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000049294.1 1 12.310443 KEEP 0 2 69 65 2238 CC 1 1 0 + 14 60 498 0 0 30.347461 386 60 14489 508 ENST00000371818.4 0.035 1 IFIT3 3437 __UNKNOWN__ __UNKNOWN__ 10 91099630 91099630 __UNKNOWN__ Silent SNP T T C rs3780878 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:91099630T>C ENST00000371818.4 + 2 1398 c.1218T>C c.(1216-1218)tcT>tcC p.S406S LIPA_ENST00000371837.1_Intron|IFIT3_ENST00000371811.4_Silent_p.S406S|LIPA_ENST00000487618.1_Intron NM_001549.4 NP_001540.2 O14879 IFIT3_HUMAN interferon-induced protein with tetratricopeptide repeats 3 406 NA cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337) cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739) identical protein binding (GO:0042802) breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1) 15 AGAATGTATCTGAAAATCTGC 0.388 NA T||| 1087 0.217053 0.2837 0.1873 5008 , , NA 23201 0.2292 NA 0.2376 False NA ,,, NA NA NA 2504 0.1145 NA NA NA NA 0 T , 1194,3212 413.7+/-336.6 172,850,1181 79 83 81 1218,1218 -0.7 0 10 dbSNP_107 81 1968,6632 346.7+/-326.3 228,1512,2560 no coding-synonymous,coding-synonymous IFIT3 NM_001031683.2,NM_001549.4 , 400,2362,3741 CC,CT,TT 22.8837,27.0994,24.3119 , 406/491,406/491 91099630 3162,9844 2203 4300 6503 SO:0001819 synonymous_variant U52513 CCDS7402.1, CCDS31241.1 10q23.31 2014-05-22 2004-07-16 2004-07-16 ENSG00000119917 ENSG00000119917 3437 Tetratricopeptide (TTC) repeat domain containing 5411 protein-coding gene gene with protein product 604650 interferon-induced protein with tetratricopeptide repeats 4 IFIT4 NA 9828129, 9391139 Standard NM_001549 NM_001031683 NA Approved ISG60, RIG-G, CIG-49, IFI60, GARG-49, IRG2 uc001kgg.3 O14879 OTTHUMG00000018708 ENST00000371818.4:c.1218T>C chr10.hg19:g.91099630T>C NA Q99634|Q9BSK7 hg19 CCDS7402.1 0.02 13.621689 ATCxGAA COVERED NOVEL IFIT3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000049294.1 2 18.490906 KEEP 0 1 30 72 2316 TT 1 1 0 + 19 60 636 0 0 40.051703 356 60 13363 548 ENST00000371818.4 0.050667 1 IFIT5 24138 __UNKNOWN__ __UNKNOWN__ 10 91179694 91179694 __UNKNOWN__ 3'UTR SNP G G A rs35359667 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:91179694G>A ENST00000371795.4 + 0 2951 NM_012420.2 NP_036552.1 Q13325 IFIT5_HUMAN interferon-induced protein with tetratricopeptide repeats 5 NA NA defense response to virus (GO:0051607)|innate immune response (GO:0045087) actin cytoskeleton (GO:0015629)|apical part of cell (GO:0045177)|ruffle membrane (GO:0032587) poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)|tRNA binding (GO:0000049) endometrium(1)|large_intestine(4)|lung(4) 9 ATGTATGTGTGTGTGTTTTAC 0.239 NA G||| 1053 0.210264 0.2602 0.1988 5008 , , NA 14291 0.2202 NA 0.2604 False NA ,,, NA NA NA 2504 0.089 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U34605 CCDS7403.1 10q23.31 2013-01-10 ENSG00000152778 ENSG00000152778 24138 Tetratricopeptide (TTC) repeat domain containing 13328 protein-coding gene gene with protein product retinoic acid- and interferon-inducible protein (58kD) NA 9398535 Standard NM_012420 NM_012420 NA Approved RI58 uc010qnh.2 Q13325 OTTHUMG00000018713 ENST00000371795.4:c.*1289G>A chr10.hg19:g.91179694G>A NA B2R5X9|B4DDV1|Q5T7I9|Q6IAX3 hg19 CCDS7403.1 0.02 6.018869 TGTxTGT COVERED NOVEL IFIT5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000049303.1 2 4.150815 KEEP 0 4 114 54 1945 GG 1 1 0 + 8 60 295 0 0 18.754494 191 70 7115 296 ENST00000371795.4 0.040201 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 91920434 91920434 __UNKNOWN__ IGR SNP T T A rs17091258 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:91920434T>A NA NA RP11-478K7.2 (203304 upstream) : RN7SKP143 (2973 downstream) NA NA NA ACCCTGGGTATCAGCATCTGT 0.378 NA T||| 551 0.110024 0.0809 0.0735 5008 , , NA 17561 0.2083 NA 0.0298 False NA ,,, NA NA NA 2504 0.1564 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.91920434T>A NA hg19 0.02 12.372422 GTAxCAG COVERED NOVEL 0 0 9.327386 KEEP 0 0 0 31 990 TT 0.999997 0.999997 0 20 60 686 0 0 45.386514 317 60 11872 490 0.059347 1 BTAF1 9044 __UNKNOWN__ __UNKNOWN__ 10 93768742 93768742 __UNKNOWN__ Intron SNP G G A rs184699233 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:93768742G>A ENST00000265990.6 + 27 4243 BTAF1_ENST00000544642.1_Intron NM_003972.2 NP_003963.1 O14981 BTAF1_HUMAN BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa NA NA negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892) nucleus (GO:0005634) ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700) central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6) 59 Colorectal(252;0.0846) TAAGGTTTCCGGATTTGGAGA 0.343 NA g||| 2 0.000399361 0.0 0.0 5008 , , NA 16829 0.002 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 67 68 67 NA NA 10 NA 93768742 2203 4300 6503 SO:0001627 intron_variant AJ001017 CCDS7419.1 10q22-q23 2013-05-01 2013-05-01 ENSG00000095564 ENSG00000095564 9044 17307 protein-coding gene gene with protein product Mot1 homolog (S. cerevisiae) 605191 BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae) NA 9342322, 9488487 Standard NM_003972 NM_003972 NA Approved TAFII170, TAF172, MOT1, TAF-172, TAF(II)170 uc001khr.3 O14981 OTTHUMG00000018752 ENST00000265990.6:c.3935+35G>A chr10.hg19:g.93768742G>A NA B4E0W6|O43578 hg19 CCDS7419.1 0.02 11.132029 TCCxGAT COVERED NOVEL BTAF1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000049380.4 2 12.094502 KEEP 0 1 10 44 1449 GG 1 1 0 + 9 60 320 0 0 19.281927 254 60 8596 355 ENST00000265990.6 0.034221 1 EXOC6 54536 __UNKNOWN__ __UNKNOWN__ 10 94660738 94660738 __UNKNOWN__ Intron SNP T T A rs147330354 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:94660738T>A ENST00000260762.6 + 5 472 EXOC6_ENST00000443748.2_Intron|EXOC6_ENST00000371547.4_Intron|EXOC6_ENST00000371543.1_3'UTR|EXOC6_ENST00000371552.4_Intron NM_019053.4 NP_061926.3 Q8TAG9 EXOC6_HUMAN exocyst complex component 6 NA NA cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904) exocyst (GO:0000145)|plasma membrane (GO:0005886) cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 26 Colorectal(252;0.123) ttctttgtttttttcatggaa 0.368 NA T||| 6 0.00119808 0.0 0.0 5008 , , NA 16841 0.006 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC028395 CCDS7424.2, CCDS31247.1 10q23.33 2013-01-22 2006-11-07 2006-11-07 ENSG00000138190 ENSG00000138190 54536 23196 protein-coding gene gene with protein product 609672 SEC15-like 1 (S. cerevisiae) SEC15L1 NA 8889548 Standard NM_019053 NM_001013848 NA Approved SEC15L, FLJ1125, DKFZp761I2124, MGC33397, Sec15p, EXOC6A uc001kig.3 Q8TAG9 OTTHUMG00000018767 ENST00000260762.6:c.458+1337T>A chr10.hg19:g.94660738T>A NA E9PHI3|Q5VXH8|Q9NZ24 hg19 CCDS7424.2 0.02 6.011787 TTTxTTT COVERED NOVEL EXOC6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000049410.2 1 9.024645 KEEP 0 0 0 30 943 TT 0.999997 0.999997 0 + 8 60 280 0 0 17.692826 168 60 6014 238 ENST00000260762.6 0.045455 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 94969407 94969407 __UNKNOWN__ IGR SNP G G A rs11187326 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:94969407G>A NA NA CYP26A1 (131760 upstream) : MYOF (96779 downstream) NA NA NA TCACTTTGGCGCAGGGAAGTG 0.443 NA G||| 1785 0.35643 0.0598 0.4164 5008 , , NA 18306 0.877 NA 0.1362 False NA ,,, NA NA NA 2504 0.4049 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.94969407G>A NA hg19 0.02 6.062662 GGCxCAG COVERED NOVEL 0 0 6.019659 KEEP 0 0 0 20 708 GG 0.999863 0.999863 0 10 60 353 0 0 23.83681 150 60 5425 220 0.0625 1 PDE6C 5146 __UNKNOWN__ __UNKNOWN__ 10 95381773 95381773 __UNKNOWN__ Missense_Mutation SNP T T A rs701865 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:95381773T>A ENST00000371447.3 + 4 946 c.808T>A c.(808-810)Tca>Aca p.S270T NM_006204.3 NP_006195.3 P51160 PDE6C_HUMAN phosphodiesterase 6C, cGMP-specific, cone, alpha prime 270 GAF 2. NA S -> T (in dbSNP:rs701865). {ECO:0000269|PubMed:8641425}. phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601) plasma membrane (GO:0005886) 3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872) breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.123) Caffeine(DB00201) CACGGTTAGATCATATCTGAA 0.408 NA A||| 2075 0.414337 0.4803 0.4222 5008 , , NA 19059 0.4861 NA 0.3628 False NA ,,, NA NA NA 2504 0.2986 NA NA NA NA 0 A THR/SER 2039,2367 610.8+/-391.6 494,1051,658 176 155 162 808 4.8 0.1 10 dbSNP_86 162 3050,5550 662.2+/-402.0 531,1988,1781 yes missense PDE6C NM_006204.3 58 1025,3039,2439 AA,AT,TT 35.4651,46.2778,39.1281 benign 270/859 95381773 5089,7917 2203 4300 6503 SO:0001583 missense U31973 CCDS7429.1 10q24 2013-01-23 ENSG00000095464 ENSG00000095464 5146 3.1.4.17 Phosphodiesterases 8787 protein-coding gene gene with protein product 600827 NA Standard NM_006204 NM_006204 NA Approved PDEA2, ACHM5, COD4 uc001kiu.4 P51160 OTTHUMG00000018775 ENST00000371447.3:c.808T>A chr10.hg19:g.95381773T>A ENSP00000360502:p.Ser270Thr NA A6NCR6|Q5VY29 hg19 CCDS7429.1 0.02 10.907282 AGAxCAT COVERED 935 0.4281135531135531 219 0.4451219512195122 156 0.430939226519337 290 0.506993006993007 270 0.3562005277044855 A 9.751 1.167381 0.21621 0.462778 0.354651 ENSG00000095464 ENST00000371447 T 0.67523 -0.27 4.85 4.85 0.62838 GAF (2); 0.269919 0.42294 N 0.000726 T 0.00012 0.0000 N 0.00583 -1.355 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.44711 -0.9310 9 0.13108 T 0.6 . 6.0523 0.19792 0.7789:0.0:0.0759:0.1453 rs701865;rs52820372;rs58236055;rs701865 270 P51160 PDE6C_HUMAN T 270 ENSP00000360502:S270T ENSP00000360502:S270T S + 1 0 PDE6C 95371763 0.413000 0.25400 0.101000 0.21167 0.873000 0.50193 2.619000 0.46401 0.987000 0.38709 -0.364000 0.07487 TCA NOVEL PDE6C-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000049437.1 0 10.531771 KEEP 0 0 0 35 1112 TT 0.999999 0.999999 0 + 18 60 669 0 0 45.953348 281 60 10294 412 ENST00000371447.3 0.060201 1 PDE6C 5146 __UNKNOWN__ __UNKNOWN__ 10 95395364 95395364 __UNKNOWN__ Silent SNP C C G rs3737228 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:95395364C>G ENST00000371447.3 + 10 1518 c.1380C>G c.(1378-1380)acC>acG p.T460T NM_006204.3 NP_006195.3 P51160 PDE6C_HUMAN phosphodiesterase 6C, cGMP-specific, cone, alpha prime 460 NA phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601) plasma membrane (GO:0005886) 3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872) breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.123) Caffeine(DB00201) TGAACCAAACCAAAGCCACTC 0.368 NA C||| 1178 0.235224 0.1112 0.3199 5008 , , NA 19136 0.3661 NA 0.2922 False NA ,,, NA NA NA 2504 0.1493 NA NA NA NA 0 C 582,3824 258.9+/-262.7 36,510,1657 129 115 120 1380 2.4 1 10 dbSNP_107 120 2398,6202 397.8+/-345.9 310,1778,2212 no coding-synonymous PDE6C NM_006204.3 346,2288,3869 GG,GC,CC 27.8837,13.2093,22.9125 460/859 95395364 2980,10026 2203 4300 6503 SO:0001819 synonymous_variant U31973 CCDS7429.1 10q24 2013-01-23 ENSG00000095464 ENSG00000095464 5146 3.1.4.17 Phosphodiesterases 8787 protein-coding gene gene with protein product 600827 NA Standard NM_006204 NM_006204 NA Approved PDEA2, ACHM5, COD4 uc001kiu.4 P51160 OTTHUMG00000018775 ENST00000371447.3:c.1380C>G chr10.hg19:g.95395364C>G NA A6NCR6|Q5VY29 hg19 CCDS7429.1 0.02 11.313991 AACxAAA COVERED NOVEL PDE6C-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000049437.1 3 2.48034 KEEP 0 2 71 33 1172 CC 0.999999 0.999999 0 + 9 60 334 0 0 20.639989 256 60 9740 370 ENST00000371447.3 0.033962 1 SORBS1 10580 __UNKNOWN__ __UNKNOWN__ 10 97174164 97174164 __UNKNOWN__ Intron SNP A A G rs3818539 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:97174164A>G ENST00000361941.3 - 7 837 SORBS1_ENST00000353505.5_Intron|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000371247.2_Intron|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000474353.2_Intron|SORBS1_ENST00000277982.5_Intron|SORBS1_ENST00000371227.4_Intron|SORBS1_ENST00000393949.1_Intron|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000354106.3_Intron|SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000371246.2_Intron NM_001034954.1 NP_001030126 sorbin and SH3 domain containing 1 NA NA NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.0429) Epithelial(162;1.7e-06)|all cancers(201;6.52e-05) CTGTCCTCAGAGCTCAGTGCT 0.572 NA A||| 990 0.197684 0.1044 0.1182 5008 , , NA 21141 0.4345 NA 0.1024 False NA ,,, NA NA NA 2504 0.2342 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF136381 CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1 10q23.33 2011-07-25 2002-05-08 ENSG00000095637 ENSG00000095637 10580 14565 protein-coding gene gene with protein product c-Cbl-associated protein 605264 SH3-domain protein 5 (ponsin) SH3D5 NA 10085297, 11001060 Standard XM_005269405 NA Approved FLJ12406, CAP, sh3p12, ponsin, KIAA1296 uc001kkp.3 Q9BX66 OTTHUMG00000018812 ENST00000361941.3:c.810+86T>C chr10.hg19:g.97174164A>G NA hg19 CCDS31255.1 0.02 4.930618 CAGxGCT COVERED NOVEL SORBS1-004 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000049517.1 0 10.231258 KEEP 0 0 0 34 1088 AA 0.999998 0.999989 0 - 6 60 199 0 0 12.994279 102 60 3526 174 ENST00000361941.3 0.055556 0.999991 CCNJ 54619 __UNKNOWN__ __UNKNOWN__ 10 97818544 97818544 __UNKNOWN__ 3'UTR SNP T T A rs41291599 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:97818544T>A ENST00000465148.2 + 0 1876 ENTPD1-AS1_ENST00000427846.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|CCNJ_ENST00000403870.3_3'UTR|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|CCNJ_ENST00000534974.1_3'UTR|CCNJ_ENST00000265992.5_3'UTR|ENTPD1-AS1_ENST00000458228.1_RNA Q5T5M9 CCNJ_HUMAN cyclin J NA NA nucleus (GO:0005634) breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 11 Epithelial(162;6.1e-08)|all cancers(201;2.32e-06) GTAAAAAAAATTTTTTTAGAT 0.249 NA T||| 295 0.0589058 0.0045 0.1297 5008 , , NA 15906 0.0228 NA 0.0507 False NA ,,, NA NA NA 2504 0.1278 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK001757 CCDS7445.1, CCDS44462.1, CCDS44463.1 10q23.33 2008-05-14 ENSG00000107443 ENSG00000107443 54619 23434 protein-coding gene gene with protein product NA 12477932 Standard NM_019084 NM_019084 NA Approved FLJ10895, bA690P14.1 uc010qoq.2 Q5T5M9 OTTHUMG00000018823 ENST00000465148.2:c.*546T>A chr10.hg19:g.97818544T>A NA B7Z4E7|Q86XL1|Q9NV69 hg19 CCDS44462.1 0.02 8.517763 AAAxTTT COVERED NOVEL CCNJ-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000468154.1 5 12.336361 KEEP 0 0 0 41 1282 TT 1 1 0 + 8 60 291 0 0 17.815013 224 60 8224 327 ENST00000465148.2 0.034483 1 TLL2 7093 __UNKNOWN__ __UNKNOWN__ 10 98125587 98125587 __UNKNOWN__ 3'UTR SNP A A G rs59065236 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:98125587A>G ENST00000357947.3 - 0 5531 NM_012465.3 NP_036597.1 Q9Y6L7 TLL2_HUMAN tolloid-like 2 NA NA cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275) extracellular region (GO:0005576) calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270) NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 58 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) GCCTAAATAAAGGTTTTTCAT 0.433 NA A||| 109 0.0217652 0.0015 0.0447 5008 , , NA 19581 0.0694 NA 0.003 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF059516 CCDS7449.1 10q23-q24 2008-07-29 ENSG00000095587 ENSG00000095587 7093 11844 protein-coding gene gene with protein product 606743 NA 10516436 Standard NM_012465 NA Approved uc001kml.2 Q9Y6L7 OTTHUMG00000018833 ENST00000357947.3:c.*2258T>C chr10.hg19:g.98125587A>G NA A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00 hg19 CCDS7449.1 0.02 6.929754 TAAxGGT COVERED NOVEL TLL2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000049608.1 0 4.212865 KEEP 0 0 0 14 440 AA 0.995343 0.995343 0 - 8 60 287 0 0 18.912229 144 60 5341 176 ENST00000357947.3 0.052632 1 TLL2 7093 __UNKNOWN__ __UNKNOWN__ 10 98127590 98127590 __UNKNOWN__ 3'UTR SNP C C T rs3814221 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:98127590C>T ENST00000357947.3 - 0 3528 NM_012465.3 NP_036597.1 Q9Y6L7 TLL2_HUMAN tolloid-like 2 NA NA cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275) extracellular region (GO:0005576) calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270) NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 58 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) TGACTTCAATCCTAATCTTTA 0.428 NA C||| 2566 0.51238 0.3487 0.6571 5008 , , NA 21380 0.4335 NA 0.7028 False NA ,,, NA NA NA 2504 0.5164 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF059516 CCDS7449.1 10q23-q24 2008-07-29 ENSG00000095587 ENSG00000095587 7093 11844 protein-coding gene gene with protein product 606743 NA 10516436 Standard NM_012465 NA Approved uc001kml.2 Q9Y6L7 OTTHUMG00000018833 ENST00000357947.3:c.*255G>A chr10.hg19:g.98127590C>T NA A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00 hg19 CCDS7449.1 0.02 8.317007 AATxCTA COVERED NOVEL TLL2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000049608.1 3 9.931923 KEEP 0 0 0 33 1145 CC 0.999998 0.999998 0 - 8 60 294 0 0 18.111269 224 60 8184 306 ENST00000357947.3 0.034483 1 FRAT2 23401 __UNKNOWN__ __UNKNOWN__ 10 99093229 99093229 __UNKNOWN__ 3'UTR SNP T T C rs559033825 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:99093229T>C ENST00000371019.2 - 0 1229 NM_012083.2 NP_036215.1 O75474 FRAT2_HUMAN frequently rearranged in advanced T-cell lymphomas 2 NA NA cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|Wnt signaling pathway (GO:0016055) lung(1) 1 Colorectal(252;0.0846) Epithelial(162;1.34e-09)|all cancers(201;8.42e-08) GTCGTTAGTTTTCAAGTATTG 0.453 NA OREG0020411 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) T||| 2 0.000399361 0.0 0.0 5008 , , NA 20781 0.002 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF062739 CCDS7456.1 10q23-q24.1 2008-08-01 ENSG00000181274 ENSG00000181274 23401 16048 protein-coding gene gene with protein product GSK-3 binding protein FRAT2 605006 NA 9635432, 11237732 Standard NM_012083 NM_012083 NA Approved uc001knd.1 O75474 OTTHUMG00000018850 ENST00000371019.2:c.*399A>G chr10.hg19:g.99093229T>C 1341 Q5JTI0|Q8WUL9|Q9BYG2 hg19 CCDS7456.1 0.02 11.130868 GTTxTCA COVERED NOVEL FRAT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000049676.1 2 36.707901 KEEP 0 0 0 122 3816 TT 1 1 0 - 8 60 308 0 0 18.773043 278 60 9855 485 ENST00000371019.2 0.027972 1 ANKRD2 26287 __UNKNOWN__ __UNKNOWN__ 10 99342563 99342563 __UNKNOWN__ Intron SNP T T C rs3818910 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:99342563T>C ENST00000370655.1 + 8 1142 ANKRD2_ENST00000307518.5_Intron|ANKRD2_ENST00000298808.5_Intron|ANKRD2_ENST00000455090.1_Intron NM_020349.2 NP_065082.2 Q9GZV1 ANKR2_HUMAN ankyrin repeat domain 2 (stretch responsive muscle) NA NA muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|skeletal muscle cell differentiation (GO:0035914) cytosol (GO:0005829)|euchromatin (GO:0000791)|I band (GO:0031674)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634) protein kinase B binding (GO:0043422)|structural constituent of muscle (GO:0008307) breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1) 7 all_hematologic(284;1.95e-06)|Colorectal(252;0.0163) Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241) CATGTATCATTGGCTCTGGCC 0.537 NA T||| 1331 0.265775 0.1256 0.2305 5008 , , NA 20865 0.3929 NA 0.2714 False NA ,,, NA NA NA 2504 0.3436 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ304805 CCDS7466.1, CCDS44468.1 10q23 2013-01-10 ENSG00000165887 ENSG00000165887 26287 Ankyrin repeat domain containing 495 protein-coding gene gene with protein product 610734 NA 10873377, 15136035, 15677738 Standard NM_001129981 NA Approved ARPP uc001knw.3 Q9GZV1 OTTHUMG00000018860 ENST00000370655.1:c.852+104T>C chr10.hg19:g.99342563T>C NA Q3B778|Q5T456|Q70EZ9|Q8WUD7|Q96MG0|Q9NQC9 hg19 0.02 2.008967 CATxGGC COVERED NOVEL ANKRD2-001 KNOWN basic protein_coding NA protein_coding OTTHUMT00000049728.1 0 3.911771 KEEP 0 0 0 13 403 TT 0.994391 0.988844 0 + 5 60 171 0 0 11.798664 61 60 2233 83 ENST00000370655.1 0.075758 0.994422 HOGA1 112817 __UNKNOWN__ __UNKNOWN__ 10 99371344 99371344 __UNKNOWN__ Silent SNP C C A rs12261752 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:99371344C>A ENST00000370646.4 + 7 1273 c.912C>A c.(910-912)gcC>gcA p.A304A HOGA1_ENST00000370647.4_Silent_p.A141A|PI4K2A_ENST00000555577.1_Intron|PI4K2A_ENST00000370649.3_Intron NM_138413.3 NP_612422.2 Q86XE5 HOGA1_HUMAN 4-hydroxy-2-oxoglutarate aldolase 1 304 NA 4-hydroxyproline catabolic process (GO:0019470)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|oxalate metabolic process (GO:0033609)|pyruvate biosynthetic process (GO:0042866) extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739) 4-hydroxy-2-oxoglutarate aldolase activity (GO:0008700)|protein homodimerization activity (GO:0042803) breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|stomach(1) 14 CCTGCCGCGCCCCCTTGCAGG 0.627 NA C||| 1590 0.317492 0.3177 0.2363 5008 , , NA 17499 0.3492 NA 0.2545 False NA ,,, NA NA NA 2504 0.407 NA NA NA NA 0 C , 1348,3058 446.9+/-348.2 195,958,1050 41 44 43 423,912 4.1 0.9 10 dbSNP_120 43 2573,6027 414.9+/-351.6 392,1789,2119 no coding-synonymous,coding-synonymous HOGA1 NM_001134670.1,NM_138413.3 , 587,2747,3169 AA,AC,CC 29.9186,30.5946,30.1476 , 141/165,304/328 99371344 3921,9085 2203 4300 6503 SO:0001819 synonymous_variant BC011916 CCDS7467.1, CCDS44469.1 10q24.1 2010-12-19 2010-12-19 2010-12-19 ENSG00000241935 ENSG00000241935 112817 25155 protein-coding gene gene with protein product dihydrodipicolinate synthetase homolog 2 (E. coli), N-acetylneuraminate pyruvate lyase 2 (putative) 613597 chromosome 10 open reading frame 65, dihydrodipicolinate synthase-like, mitochondrial C10orf65, DHDPSL NA 20797690 Standard NM_138413 NM_001134670 NA Approved FLJ37472, DHDPS2, NPL2 Q86XE5 OTTHUMG00000018859 ENST00000370646.4:c.912C>A chr10.hg19:g.99371344C>A NA A8K075|Q5T680|Q5T684|Q711P0|Q8N9F2|Q96EV5 hg19 CCDS7467.1 0.02 13.691661 CGCxCCC COVERED NOVEL HOGA1-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000049726.1 2 19.256907 KEEP 0 0 0 64 2235 CC 1 1 0 + 20 60 644 0 0 40.264873 348 60 12823 547 ENST00000370646.4 0.054348 1 CNNM1 26507 __UNKNOWN__ __UNKNOWN__ 10 101153590 101153590 __UNKNOWN__ 3'UTR SNP A A T rs7914408 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:101153590A>T ENST00000356713.4 + 0 5462 CNNM1_ENST00000446890.1_3'UTR|CNNM1_ENST00000370528.3_3'UTR NM_020348.2 NP_065081.2 Q9NRU3 CNNM1_HUMAN cyclin and CBS domain divalent metal cation transport mediator 1 NA NA ion transport (GO:0006811) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) adenyl nucleotide binding (GO:0030554) NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1) 25 Colorectal(252;0.234) Epithelial(162;6.82e-10)|all cancers(201;5.62e-08) GAGCTAGAGAAGCCTTTTCCA 0.522 NA T||| 4128 0.824281 0.8442 0.8919 5008 , , NA 20006 0.6677 NA 0.9125 False NA ,,, NA NA NA 2504 0.82 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF169226 CCDS7478.2 10q24.2 2014-08-08 2014-08-07 ENSG00000119946 ENSG00000119946 26507 102 protein-coding gene gene with protein product 607802 cyclin M1 ACDP1 NA 21393841 Standard NM_020348 NM_020348 NA Approved uc001kpp.4 Q9NRU3 OTTHUMG00000018881 ENST00000356713.4:c.*2317A>T chr10.hg19:g.101153590A>T NA Q4QQG7|Q4QQH8|Q4QQP9|Q9NT45 hg19 CCDS7478.2 0.02 10.766117 AGAxGCC COVERED NOVEL CNNM1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000049792.2 2 19.259015 KEEP 0 0 0 64 2054 AA 1 1 0 + 9 60 326 0 0 19.612447 272 60 9972 411 ENST00000356713.4 0.032028 1 ABCC2 1244 __UNKNOWN__ __UNKNOWN__ 10 101542578 101542578 __UNKNOWN__ 5'UTR SNP C C T rs717620 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:101542578C>T ENST00000370449.4 + 0 90 ABCC2_ENST00000370434.1_5'UTR NM_000392.3 NP_000383 Q92887 MRP2_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 2 NA NA cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810) apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514) NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 67 Colorectal(252;0.234) Epithelial(162;2.77e-10)|all cancers(201;2.47e-08) Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541) GAAGAGTCTTCGTTCCAGACG 0.368 NA C||| 676 0.134984 0.031 0.1657 5008 , , NA 22164 0.2173 NA 0.2068 False NA ,,, NA NA NA 2504 0.0951 NA NA NA NA 0 GRCh37 CR076688 ABCC2 R rs717620 271,4135 153.3+/-186.9 11,249,1943 96 87 91 3.2 0.1 10 dbSNP_86 91 1708,6892 311.8+/-310.5 164,1380,2756 no utr-5 ABCC2 NM_000392.3 175,1629,4699 TT,TC,CC 19.8605,6.1507,15.2161 101542578 1979,11027 2203 4300 6503 SO:0001623 5_prime_UTR_variant U63970 CCDS7484.1 10q24 2012-03-14 ENSG00000023839 ENSG00000023839 1244 ATP binding cassette transporters / subfamily C 53 protein-coding gene gene with protein product 601107 canalicular multispecific organic anion transporter 1 CMOAT NA 8797578, 9284939 Standard NM_000392 XM_006717630 NA Approved DJS, MRP2, cMRP uc001kqf.2 Q92887 OTTHUMG00000018895 ENST00000370449.4:c.-24C>T chr10.hg19:g.101542578C>T NA B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2 hg19 CCDS7484.1 0.02 25.46218 CTTxGTT COVERED NOVEL ABCC2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000049825.1 4 22.705012 KEEP 0 1 30 86 2886 CC 1 1 0 + 17 60 606 0 0 35.17846 587 60 20701 843 ENST00000370449.4 0.028146 1 ABCC2 1244 __UNKNOWN__ __UNKNOWN__ 10 101604207 101604207 __UNKNOWN__ Silent SNP C C T rs3740066 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:101604207C>T ENST00000370449.4 + 28 4085 c.3972C>T c.(3970-3972)atC>atT p.I1324I NM_000392.3 NP_000383 Q92887 MRP2_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 2 1324 ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}. NA cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810) apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514) p.I1324I(1) NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 67 Colorectal(252;0.234) Epithelial(162;2.77e-10)|all cancers(201;2.47e-08) Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541) CTTGTGACATCGGTAGCATGG 0.542 NA C||| 1443 0.288139 0.2163 0.3415 5008 , , NA 20904 0.247 NA 0.3708 False NA ,,, NA NA NA 2504 0.3047 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) GRCh37 CM080009 ABCC2 M rs3740066 1145,3261 407.3+/-334.2 151,843,1209 144 126 132 3972 0.7 0.8 10 dbSNP_107 132 3193,5407 483.7+/-371.2 605,1983,1712 no coding-synonymous ABCC2 NM_000392.3 756,2826,2921 TT,TC,CC 37.1279,25.9873,33.3538 1324/1546 101604207 4338,8668 2203 4300 6503 SO:0001819 synonymous_variant U63970 CCDS7484.1 10q24 2012-03-14 ENSG00000023839 ENSG00000023839 1244 ATP binding cassette transporters / subfamily C 53 protein-coding gene gene with protein product 601107 canalicular multispecific organic anion transporter 1 CMOAT NA 8797578, 9284939 Standard NM_000392 XM_006717630 NA Approved DJS, MRP2, cMRP uc001kqf.2 Q92887 OTTHUMG00000018895 ENST00000370449.4:c.3972C>T chr10.hg19:g.101604207C>T NA B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2 hg19 CCDS7484.1 0.02 4.183524 CATxGGT COVERED NOVEL ABCC2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000049825.1 0 8.126105 KEEP 0 0 0 27 925 CC 0.999988 0.999988 0 + 7 60 247 0 0 16.083382 129 60 4486 198 ENST00000370449.4 0.051471 1 DNMBP 23268 __UNKNOWN__ __UNKNOWN__ 10 101636648 101636648 __UNKNOWN__ 3'UTR SNP T T C rs2002109 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:101636648T>C ENST00000324109.4 - 0 5085 DNMBP_ENST00000543621.1_3'UTR|DNMBP_ENST00000342239.3_3'UTR|DNMBP_ENST00000540316.1_3'UTR NM_015221.2 NP_056036.1 Q6XZF7 DNMBP_HUMAN dynamin binding protein NA NA intracellular signal transduction (GO:0035556) cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202) Rho guanyl-nucleotide exchange factor activity (GO:0005089) central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 61 Colorectal(252;0.234) Epithelial(162;2.94e-10)|all cancers(201;3.15e-08) AAGCCAGCTCTAAGACTTGTC 0.438 NA C||| 2318 0.462859 0.5325 0.4798 5008 , , NA 21603 0.2698 NA 0.5388 False NA ,,, NA NA NA 2504 0.4775 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL833283 CCDS7485.1 10q24.31 2012-07-24 ENSG00000107554 ENSG00000107554 23268 Rho guanine nucleotide exchange factors 30373 protein-coding gene gene with protein product scaffold protein TUBA 611282 NA 10231032, 14506234 Standard NM_015221 NM_015221 NA Approved KIAA1010, Tuba, ARHGEF36 uc001kqj.2 Q6XZF7 OTTHUMG00000018897 ENST00000324109.4:c.*260A>G chr10.hg19:g.101636648T>C NA Q8IVY3|Q9Y2L3 hg19 CCDS7485.1 0.02 9.255762 CTCxAAG COVERED NOVEL DNMBP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000049832.2 4 15.044649 KEEP 0 0 0 50 1576 TT 1 1 0 - 9 60 346 0 0 22.651225 207 60 7527 314 ENST00000324109.4 0.041667 1 DNMBP 23268 __UNKNOWN__ __UNKNOWN__ 10 101654696 101654696 __UNKNOWN__ Intron SNP T T C rs3758394 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:101654696T>C ENST00000324109.4 - 11 3248 DNMBP_ENST00000543621.1_Intron|DNMBP_ENST00000342239.3_Intron|DNMBP_ENST00000540316.1_Intron NM_015221.2 NP_056036.1 Q6XZF7 DNMBP_HUMAN dynamin binding protein NA NA intracellular signal transduction (GO:0035556) cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202) Rho guanyl-nucleotide exchange factor activity (GO:0005089) central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 61 Colorectal(252;0.234) Epithelial(162;2.94e-10)|all cancers(201;3.15e-08) GTGATGTTGATGCTCACCCGG 0.378 NA N||| 2284 0.45607 0.4652 0.4784 5008 , , NA 19243 0.2808 NA 0.5736 False NA ,,, NA NA NA 2504 0.4877 NA NA NA NA 0 2168,2238 593.9+/-388.1 551,1066,586 121 101 108 -5.2 0 10 dbSNP_107 108 4889,3711 529.8+/-381.7 1390,2109,801 no intron DNMBP NM_015221.2 1941,3175,1387 CC,CT,TT 43.1512,49.2056,45.7404 101654696 7057,5949 2203 4300 6503 SO:0001627 intron_variant AL833283 CCDS7485.1 10q24.31 2012-07-24 ENSG00000107554 ENSG00000107554 23268 Rho guanine nucleotide exchange factors 30373 protein-coding gene gene with protein product scaffold protein TUBA 611282 NA 10231032, 14506234 Standard NM_015221 NM_015221 NA Approved KIAA1010, Tuba, ARHGEF36 uc001kqj.2 Q6XZF7 OTTHUMG00000018897 ENST00000324109.4:c.3156+6A>G chr10.hg19:g.101654696T>C NA Q8IVY3|Q9Y2L3 hg19 CCDS7485.1 0.02 10.395863 TGAxGCT COVERED NOVEL DNMBP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000049832.2 0 20.741945 KEEP 0 0 0 69 2141 TT 1 1 0 - 11 60 405 0 0 25.44047 279 60 10366 461 ENST00000324109.4 0.037931 1 DNMBP 23268 __UNKNOWN__ __UNKNOWN__ 10 101657880 101657880 __UNKNOWN__ Silent SNP G G A rs7919323 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:101657880G>A ENST00000324109.4 - 9 2974 c.2883C>T c.(2881-2883)aaC>aaT p.N961N DNMBP_ENST00000543621.1_Silent_p.N207N|DNMBP_ENST00000342239.3_Silent_p.N961N|DNMBP_ENST00000540316.1_De_novo_Start_OutOfFrame NM_015221.2 NP_056036.1 Q6XZF7 DNMBP_HUMAN dynamin binding protein 961 DH. {ECO:0000255|PROSITE- ProRule:PRU00062}. NA intracellular signal transduction (GO:0035556) cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202) Rho guanyl-nucleotide exchange factor activity (GO:0005089) central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 61 Colorectal(252;0.234) Epithelial(162;2.94e-10)|all cancers(201;3.15e-08) TAATGTTAACGTTGATTTCCT 0.433 NA G||| 1375 0.274561 0.1589 0.3256 5008 , , NA 17198 0.2183 NA 0.3946 False NA ,,, NA NA NA 2504 0.3292 NA NA NA NA 0 890,3516 345.4+/-308.5 84,722,1397 130 114 119 2883 -4.9 0.9 10 dbSNP_116 119 3322,5278 495.3+/-374.0 654,2014,1632 no coding-synonymous DNMBP NM_015221.2 738,2736,3029 AA,AG,GG 38.6279,20.1997,32.3851 961/1578 101657880 4212,8794 2203 4300 6503 SO:0001819 synonymous_variant AL833283 CCDS7485.1 10q24.31 2012-07-24 ENSG00000107554 ENSG00000107554 23268 Rho guanine nucleotide exchange factors 30373 protein-coding gene gene with protein product scaffold protein TUBA 611282 NA 10231032, 14506234 Standard NM_015221 NM_015221 NA Approved KIAA1010, Tuba, ARHGEF36 uc001kqj.2 Q6XZF7 OTTHUMG00000018897 ENST00000324109.4:c.2883C>T chr10.hg19:g.101657880G>A NA Q8IVY3|Q9Y2L3 hg19 CCDS7485.1 0.02 13.587063 AACxTTG COVERED NOVEL DNMBP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000049832.2 2 20.43781 KEEP 0 0 0 68 2304 GG 1 1 0 - 12 60 455 0 0 28.766305 323 60 11436 467 ENST00000324109.4 0.035821 1 DNMBP 23268 __UNKNOWN__ __UNKNOWN__ 10 101658585 101658585 __UNKNOWN__ Intron SNP T T C rs3740057 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:101658585T>C ENST00000324109.4 - 8 2794 DNMBP_ENST00000543621.1_Intron|DNMBP_ENST00000342239.3_Intron NM_015221.2 NP_056036.1 Q6XZF7 DNMBP_HUMAN dynamin binding protein NA NA intracellular signal transduction (GO:0035556) cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202) Rho guanyl-nucleotide exchange factor activity (GO:0005089) central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 61 Colorectal(252;0.234) Epithelial(162;2.94e-10)|all cancers(201;3.15e-08) GTTTCACATTTTTCTCAGAAC 0.383 NA C||| 2039 0.407149 0.4463 0.4323 5008 , , NA 20150 0.2431 NA 0.4642 False NA ,,, NA NA NA 2504 0.4468 NA NA NA NA 0 644,740 153,338,201 85 75 78 -7.6 0 10 dbSNP_107 78 1482,1700 364,754,473 no intron DNMBP NM_015221.2 517,1092,674 CC,CT,TT 46.5745,46.5318,46.5615 101658585 2126,2440 692 1591 2283 SO:0001627 intron_variant AL833283 CCDS7485.1 10q24.31 2012-07-24 ENSG00000107554 ENSG00000107554 23268 Rho guanine nucleotide exchange factors 30373 protein-coding gene gene with protein product scaffold protein TUBA 611282 NA 10231032, 14506234 Standard NM_015221 NM_015221 NA Approved KIAA1010, Tuba, ARHGEF36 uc001kqj.2 Q6XZF7 OTTHUMG00000018897 ENST00000324109.4:c.2703-68A>G chr10.hg19:g.101658585T>C NA Q8IVY3|Q9Y2L3 hg19 CCDS7485.1 0.02 8.938357 ATTxTTC COVERED NOVEL DNMBP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000049832.2 3 14.144251 KEEP 0 0 0 47 1544 TT 1 1 0 - 12 60 454 0 0 30.953583 206 60 7403 291 ENST00000324109.4 0.055046 1 DNMBP 23268 __UNKNOWN__ __UNKNOWN__ 10 101690379 101690379 __UNKNOWN__ Intron SNP A A G rs10883428 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:101690379A>G ENST00000324109.4 - 5 2352 DNMBP_ENST00000543621.1_5'UTR|DNMBP_ENST00000342239.3_Intron|DNMBP-AS1_ENST00000434409.1_RNA NM_015221.2 NP_056036.1 Q6XZF7 DNMBP_HUMAN dynamin binding protein NA NA intracellular signal transduction (GO:0035556) cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202) Rho guanyl-nucleotide exchange factor activity (GO:0005089) central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 61 Colorectal(252;0.234) Epithelial(162;2.94e-10)|all cancers(201;3.15e-08) CTGGGATCCAAGTCATTTTCT 0.493 NA A||| 1890 0.377396 0.4826 0.402 5008 , , NA 20903 0.2669 NA 0.3847 False NA ,,, NA NA NA 2504 0.3241 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL833283 CCDS7485.1 10q24.31 2012-07-24 ENSG00000107554 ENSG00000107554 23268 Rho guanine nucleotide exchange factors 30373 protein-coding gene gene with protein product scaffold protein TUBA 611282 NA 10231032, 14506234 Standard NM_015221 NM_015221 NA Approved KIAA1010, Tuba, ARHGEF36 uc001kqj.2 Q6XZF7 OTTHUMG00000018897 ENST00000324109.4:c.2261-21476T>C chr10.hg19:g.101690379A>G NA Q8IVY3|Q9Y2L3 hg19 CCDS7485.1 0.02 11.650749 CCAxGTC COVERED NOVEL DNMBP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000049832.2 0 23.171271 KEEP 0 0 0 77 2494 AA 1 1 0 - 9 60 349 0 0 21.713334 286 60 10390 439 ENST00000324109.4 0.030508 1 DNMBP 23268 __UNKNOWN__ __UNKNOWN__ 10 101715899 101715899 __UNKNOWN__ Silent SNP G G A rs2862923 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:101715899G>A ENST00000324109.4 - 4 1423 c.1332C>T c.(1330-1332)ccC>ccT p.P444P DNMBP_ENST00000342239.3_Silent_p.P444P|DNMBP-AS1_ENST00000434409.1_RNA NM_015221.2 NP_056036.1 Q6XZF7 DNMBP_HUMAN dynamin binding protein 444 NA intracellular signal transduction (GO:0035556) cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202) Rho guanyl-nucleotide exchange factor activity (GO:0005089) central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 61 Colorectal(252;0.234) Epithelial(162;2.94e-10)|all cancers(201;3.15e-08) GAAGAAGGTCGGGGTACTGTT 0.502 NA A||| 2211 0.441494 0.6558 0.4352 5008 , , NA 19500 0.2579 NA 0.4175 False NA ,,, NA NA NA 2504 0.3701 NA NA NA NA 0 2746,1660 506.6+/-366.4 858,1030,315 86 92 90 1332 0.6 0 10 dbSNP_101 90 3661,4939 621.1+/-397.1 757,2147,1396 no coding-synonymous DNMBP NM_015221.2 1615,3177,1711 AA,AG,GG 42.5698,37.6759,49.2619 444/1578 101715899 6407,6599 2203 4300 6503 SO:0001819 synonymous_variant AL833283 CCDS7485.1 10q24.31 2012-07-24 ENSG00000107554 ENSG00000107554 23268 Rho guanine nucleotide exchange factors 30373 protein-coding gene gene with protein product scaffold protein TUBA 611282 NA 10231032, 14506234 Standard NM_015221 NM_015221 NA Approved KIAA1010, Tuba, ARHGEF36 uc001kqj.2 Q6XZF7 OTTHUMG00000018897 ENST00000324109.4:c.1332C>T chr10.hg19:g.101715899G>A NA Q8IVY3|Q9Y2L3 hg19 CCDS7485.1 0.02 6.938474 GTCxGGG COVERED NOVEL DNMBP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000049832.2 1 14.742965 KEEP 0 0 0 49 1619 GG 1 1 0 - 7 60 265 0 0 17.538324 144 60 4932 239 ENST00000324109.4 0.046358 1 SCD 6319 __UNKNOWN__ __UNKNOWN__ 10 102114463 102114463 __UNKNOWN__ Intron SNP A A C rs3071 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:102114463A>C ENST00000370355.2 + 4 1028 NM_005063.4 NP_005054.3 O00767 ACOD_HUMAN stearoyl-CoA desaturase (delta-9-desaturase) NA NA fatty acid biosynthetic process (GO:0006633) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020) iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768) endometrium(1)|large_intestine(3)|lung(5) 9 Colorectal(252;0.0323) Epithelial(162;1.97e-10)|all cancers(201;1.73e-08) TTTTCTCCTGAGACTTTCAAA 0.453 NA a||| 1174 0.234425 0.0234 0.2219 5008 , , NA 17603 0.3264 NA 0.334 False NA ,,, NA NA NA 2504 0.3313 NA NA NA Colon(67;260 1459 9574 11663) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF097514 CCDS7493.1 10q23-q24 2013-01-25 ENSG00000099194 ENSG00000099194 6319 1.14.19.1 Fatty acid desaturases 10571 protein-coding gene gene with protein product acyl-CoA desaturase, fatty acid desaturase, delta-9-desaturase 604031 stearoyl-CoA desaturase opposite strand SCDOS NA 7909540, 10229681 Standard NM_005063 NM_005063 NA Approved FADS5 uc001kqy.3 O00767 OTTHUMG00000018906 ENST00000370355.2:c.647+74A>C chr10.hg19:g.102114463A>C NA B2R5U0|D3DR68|Q16150|Q53GR9|Q5W037|Q5W038|Q6GSS4|Q96KF6|Q9BS07|Q9Y695 hg19 CCDS7493.1 0.02 7.463972 CTGxGAC COVERED NOVEL SCD-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000049857.2 2 12.928961 KEEP 0 0 0 43 1319 AA 1 1 0 + 10 60 331 0 0 20.086963 217 60 7991 294 ENST00000370355.2 0.044053 1 NDUFB8 4714 __UNKNOWN__ __UNKNOWN__ 10 102286179 102286179 __UNKNOWN__ Missense_Mutation SNP C C T rs141801241 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:102286179C>T ENST00000299166.4 - 4 457 c.445G>A c.(445-447)Gtg>Atg p.V149M NDUFB8_ENST00000531258.1_Missense_Mutation_p.V149M|NDUFB8_ENST00000557395.1_Missense_Mutation_p.V149M|NDUFB8_ENST00000370320.4_Missense_Mutation_p.V149M|SEC31B_ENST00000535773.1_Intron|NDUFB8_ENST00000370322.1_Missense_Mutation_p.V118M NM_005004.2 NP_004995.1 O95169 NDUB8_HUMAN NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, 19kDa 149 NA cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747) NADH dehydrogenase (ubiquinone) activity (GO:0008137) endometrium(2)|lung(2) 4 Colorectal(252;0.234) Epithelial(162;5.68e-10)|all cancers(201;4.05e-08) ACAGGGTACACGTCCCCCACC 0.542 NA C||| 20 0.00399361 0.0 0.0 5008 , , NA 21218 0.0198 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 C MET/VAL 1,4405 2.1+/-5.4 0,1,2202 101 82 89 445 -3.4 0 10 dbSNP_134 89 0,8600 0,0,4300 yes missense NDUFB8 NM_005004.2 21 0,1,6502 TT,TC,CC 0.0,0.0227,0.0077 benign 149/187 102286179 1,13005 2203 4300 6503 SO:0001583 missense AF044958 CCDS7497.1, CCDS65916.1, CCDS65917.1 10q24.31 2011-07-04 2002-08-29 ENSG00000166136 ENSG00000166136 4714 Mitochondrial respiratory chain complex / Complex I 7703 protein-coding gene gene with protein product complex I ASHI subunit 602140 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8 (19kD, ASHI) NA 9763676 Standard NM_005004 NM_001284368 NA Approved ASHI, CI-ASHI uc001kri.1 O95169 OTTHUMG00000019346 ENST00000299166.4:c.445G>A chr10.hg19:g.102286179C>T ENSP00000299166:p.Val149Met NA A8K0L4|Q5W143|Q5W144|Q5W145|Q9UG53|Q9UJR4|Q9UQF3 hg19 CCDS7497.1 0.02 2.070389 ACAxGTC COVERED 9 0.004120879120879121 0 0.0 0 0.0 9 0.015734265734265736 0 0.0 C 5.644 0.303451 0.10678 2.27E-4 0.0 ENSG00000166136 ENST00000531258;ENST00000299166;ENST00000370322;ENST00000370320 . . . 5.69 -3.38 0.04883 . 2.253460 0.01393 N 0.013331 T 0.16471 0.0396 N 0.19112 0.55 0.09310 N 1 B 0.18166 0.026 B 0.15484 0.013 T 0.22243 -1.0222 9 0.30854 T 0.27 11.3658 12.7291 0.57187 0.0:0.3945:0.0:0.6054 . 149 O95169 NDUB8_HUMAN M 149;149;118;149 . ENSP00000299166:V149M V - 1 0 NDUFB8 102276169 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 0.188000 0.17018 -0.393000 0.07739 -0.474000 0.04947 GTG NOVEL NDUFB8-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000051225.1 0 6.019589 KEEP 0 0 0 20 704 CC 0.999863 0.987808 0 - 4 60 146 0 0 10.158128 55 60 1976 97 ENST00000299166.4 0.067797 0.987943 NDUFB8 4714 __UNKNOWN__ __UNKNOWN__ 10 102288991 102288991 __UNKNOWN__ Intron SNP A A C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:102288991A>C ENST00000299166.4 - 2 225 NDUFB8_ENST00000531258.1_Intron|NDUFB8_ENST00000557395.1_Intron|NDUFB8_ENST00000370320.4_Intron|SEC31B_ENST00000535773.1_Intron|NDUFB8_ENST00000370322.1_Intron NM_005004.2 NP_004995.1 O95169 NDUB8_HUMAN NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, 19kDa NA NA cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747) NADH dehydrogenase (ubiquinone) activity (GO:0008137) endometrium(2)|lung(2) 4 Colorectal(252;0.234) Epithelial(162;5.68e-10)|all cancers(201;4.05e-08) CCCCCCTCCCACCTCCCTCCA 0.567 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF044958 CCDS7497.1, CCDS65916.1, CCDS65917.1 10q24.31 2011-07-04 2002-08-29 ENSG00000166136 ENSG00000166136 4714 Mitochondrial respiratory chain complex / Complex I 7703 protein-coding gene gene with protein product complex I ASHI subunit 602140 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8 (19kD, ASHI) NA 9763676 Standard NM_005004 NM_001284368 NA Approved ASHI, CI-ASHI uc001kri.1 O95169 OTTHUMG00000019346 ENST00000299166.4:c.212+145T>G chr10.hg19:g.102288991A>C NA A8K0L4|Q5W143|Q5W144|Q5W145|Q9UG53|Q9UJR4|Q9UQF3 hg19 CCDS7497.1 0.02 1.253738 CCCxCCT COVERED NOVEL NDUFB8-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000051225.1 1 2.34382 KEEP 0 0 0 8 206 AA 0.99257 0.956613 0 - 8 60 129 0 0 7.55669 41 60 1172 80 ENST00000299166.4 0.163265 0.963774 SFXN3 81855 __UNKNOWN__ __UNKNOWN__ 10 102798962 102798962 __UNKNOWN__ Silent SNP C C A rs2277260 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:102798962C>A ENST00000393459.1 + 11 1325 c.852C>A c.(850-852)gcC>gcA p.A284A SFXN3_ENST00000224807.5_Silent_p.A288A|SFXN3_ENST00000466982.1_3'UTR Q9BWM7 SFXN3_HUMAN sideroflexin 3 288 NA iron ion homeostasis (GO:0055072) integral component of membrane (GO:0016021)|mitochondrion (GO:0005739) cation transmembrane transporter activity (GO:0008324) central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 9 Colorectal(252;0.234) Epithelial(162;6.98e-09)|all cancers(201;3.55e-07) TGTGCTGTGCCCTATTCCCCC 0.582 NA C||| 157 0.0313498 0.003 0.0058 5008 , , NA 17836 0.1161 NA 0.0249 False NA ,,, NA NA NA 2504 0.0072 NA NA NA NA 0 C 26,4380 32.6+/-62.9 0,26,2177 96 86 89 864 2 1 10 dbSNP_100 89 219,8381 91.6+/-153.7 3,213,4084 no coding-synonymous SFXN3 NM_030971.3 3,239,6261 AA,AC,CC 2.5465,0.5901,1.8837 288/326 102798962 245,12761 2203 4300 6503 SO:0001819 synonymous_variant AK074707 CCDS7508.2 10q24.32 2008-09-04 ENSG00000107819 ENSG00000107819 81855 Sideroflexins 16087 protein-coding gene gene with protein product 615571 NA Standard NM_030971 NM_030971 NA Approved SFX3 uc001ksp.3 Q9BWM7 OTTHUMG00000018921 ENST00000393459.1:c.852C>A chr10.hg19:g.102798962C>A NA Q8NCJ0|Q9NTP4 hg19 0.02 15.714905 TGCxCTA COVERED NOVEL SFXN3-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000049913.1 2 24.379262 KEEP 0 0 0 81 2864 CC 1 1 0 + 15 60 546 0 0 34.607554 350 60 12813 571 ENST00000393459.1 0.041096 1 MGEA5 10724 __UNKNOWN__ __UNKNOWN__ 10 103550604 103550604 __UNKNOWN__ Intron SNP T T C rs1124714 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:103550604T>C ENST00000361464.3 - 14 2850 MGEA5_ENST00000357797.5_Intron|MGEA5_ENST00000482611.1_Intron|MGEA5_ENST00000439817.1_Intron NM_012215.3 NP_036347.1 O60502 OGA_HUMAN meningioma expressed antigen 5 (hyaluronidase) NA NA aging (GO:0007568)|dATP metabolic process (GO:0046060)|glycoprotein catabolic process (GO:0006516)|N-acetylglucosamine metabolic process (GO:0006044)|necrotic cell death (GO:0070265)|negative regulation of cardiac muscle adaptation (GO:0010616)|negative regulation of protein glycosylation (GO:0060051)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cell killing (GO:0031343)|positive regulation of DNA metabolic process (GO:0051054)|positive regulation of glucose import (GO:0046326)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of proteolysis (GO:0045862)|protein targeting to membrane (GO:0006612)|response to steroid hormone (GO:0048545) cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634) histone acetyltransferase activity (GO:0004402)|hyalurononglucosaminidase activity (GO:0004415) central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 23 Colorectal(252;0.207) Epithelial(162;4.67e-09)|all cancers(201;2.54e-07) taaaaataaataaataaaaaa 0.284 NA T||| 1390 0.277556 0.2148 0.2003 5008 , , NA 13469 0.5079 NA 0.1899 False NA ,,, NA NA NA 2504 0.2699 NA NA NA NA 0 T , 962,3338 130,702,1318 15 16 15 , -4.9 0 10 dbSNP_86 15 1571,6905 174,1223,2841 no intron,intron MGEA5 NM_001142434.1,NM_012215.3 , 304,1925,4159 CC,CT,TT 18.5347,22.3721,19.8262 , , 103550604 2533,10243 2150 4238 6388 SO:0001627 intron_variant AF036144 CCDS7520.1, CCDS44471.1 10q24.1-q24.3 2008-08-01 ENSG00000198408 ENSG00000198408 10724 7056 protein-coding gene gene with protein product nuclear cytoplasmic O-GlcNAcase and acetyltransferase 604039 NA 9811929, 16356930 Standard NM_012215 NM_012215 NA Approved MEA5, NCOAT, OGA uc001ktv.2 O60502 OTTHUMG00000018939 ENST00000361464.3:c.2454+48A>G chr10.hg19:g.103550604T>C NA B7WPB9|D3DR79|E9PGF9|O75166|Q86WV0|Q8IV98|Q9BVA5|Q9HAR0 hg19 CCDS7520.1 0.02 -0.368452 AAAxAAA COVERED NOVEL MGEA5-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000049987.1 0 4.210355 KEEP 0 0 0 14 403 TT 0.995343 0.895126 0 - 3 60 114 0 0 8.138671 39 60 1386 58 ENST00000361464.3 0.071429 0.899314 MGEA5 10724 __UNKNOWN__ __UNKNOWN__ 10 103560186 103560186 __UNKNOWN__ Intron SNP A A C rs2305194 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:103560186A>C ENST00000361464.3 - 8 1432 MGEA5_ENST00000357797.5_Intron|MGEA5_ENST00000439817.1_Intron|MGEA5_ENST00000370094.3_Intron NM_012215.3 NP_036347.1 O60502 OGA_HUMAN meningioma expressed antigen 5 (hyaluronidase) NA NA aging (GO:0007568)|dATP metabolic process (GO:0046060)|glycoprotein catabolic process (GO:0006516)|N-acetylglucosamine metabolic process (GO:0006044)|necrotic cell death (GO:0070265)|negative regulation of cardiac muscle adaptation (GO:0010616)|negative regulation of protein glycosylation (GO:0060051)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cell killing (GO:0031343)|positive regulation of DNA metabolic process (GO:0051054)|positive regulation of glucose import (GO:0046326)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of proteolysis (GO:0045862)|protein targeting to membrane (GO:0006612)|response to steroid hormone (GO:0048545) cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634) histone acetyltransferase activity (GO:0004402)|hyalurononglucosaminidase activity (GO:0004415) central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 23 Colorectal(252;0.207) Epithelial(162;4.67e-09)|all cancers(201;2.54e-07) AAAAGCACAAAAATAGTTTTG 0.313 NA A||| 1380 0.275559 0.208 0.1974 5008 , , NA 18798 0.5089 NA 0.1899 False NA ,,, NA NA NA 2504 0.2699 NA NA NA NA 0 A , 913,3493 319.9+/-296.3 90,733,1380 39 37 38 , -1.1 0 10 dbSNP_100 38 1543,7057 254.1+/-279.5 138,1267,2895 no intron,intron MGEA5 NM_001142434.1,NM_012215.3 , 228,2000,4275 CC,CA,AA 17.9419,20.7217,18.8836 , , 103560186 2456,10550 2203 4300 6503 SO:0001627 intron_variant AF036144 CCDS7520.1, CCDS44471.1 10q24.1-q24.3 2008-08-01 ENSG00000198408 ENSG00000198408 10724 7056 protein-coding gene gene with protein product nuclear cytoplasmic O-GlcNAcase and acetyltransferase 604039 NA 9811929, 16356930 Standard NM_012215 NM_012215 NA Approved MEA5, NCOAT, OGA uc001ktv.2 O60502 OTTHUMG00000018939 ENST00000361464.3:c.1037-29T>G chr10.hg19:g.103560186A>C NA B7WPB9|D3DR79|E9PGF9|O75166|Q86WV0|Q8IV98|Q9BVA5|Q9HAR0 hg19 CCDS7520.1 0.02 2.276732 CAAxAAT COVERED NOVEL MGEA5-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000049987.1 1 2.40408 KEEP 0 0 0 8 209 AA 0.99257 0.991893 0 - 6 60 231 0 0 16.675461 75 60 2635 89 ENST00000361464.3 0.074074 0.999317 KCNIP2 30819 __UNKNOWN__ __UNKNOWN__ 10 103586429 103586429 __UNKNOWN__ 3'UTR SNP G G T rs3209554 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:103586429G>T ENST00000348850.5 - 0 1390 KCNIP2_ENST00000355657.2_5'UTR|KCNIP2-AS1_ENST00000412353.1_RNA|KCNIP2_ENST00000356640.2_3'UTR|KCNIP2_ENST00000358038.3_3'UTR NM_173194.2 NP_775286.1 Q9NS61 KCIP2_HUMAN Kv channel interacting protein 2 NA NA clustering of voltage-gated potassium channels (GO:0045163)|detection of calcium ion (GO:0005513)|membrane repolarization (GO:0086009)|muscle contraction (GO:0006936)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of cation channel activity (GO:2001257)|regulation of heart contraction (GO:0008016)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268) cytoplasm (GO:0005737)|voltage-gated potassium channel complex (GO:0008076) A-type (transient outward) potassium channel activity (GO:0005250)|calcium ion binding (GO:0005509)|ER retention sequence binding (GO:0046923)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein N-terminus binding (GO:0047485) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 11 Colorectal(252;0.122) Epithelial(162;4.93e-09)|all cancers(201;2.63e-07) CGAGGAGGGTGTGGAAAATTT 0.507 NA G||| 1357 0.270966 0.1891 0.1931 5008 , , NA 18497 0.5179 NA 0.1879 False NA ,,, NA NA NA 2504 0.2679 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS7521.1, CCDS7522.1, CCDS7523.1, CCDS7524.1, CCDS7525.1, CCDS7526.1, CCDS41562.1 10q24.32 2013-09-20 2001-11-29 ENSG00000120049 ENSG00000120049 30819 EF-hand domain containing 15522 protein-coding gene gene with protein product 604661 Kv channel-interacting protein 2 NA 10676964 Standard NM_173192 NA Approved KCHIP2 uc001kuc.3 Q9NS61 OTTHUMG00000018937 ENST00000348850.5:c.*681C>A chr10.hg19:g.103586429G>T NA A6NJE5|A8MQ75|Q3YAC6|Q3YAC8|Q3YAC9|Q7Z6F1|Q96K86|Q96T41|Q96T42|Q96T43|Q96T44|Q9H0N4|Q9HD10|Q9HD11|Q9NS60|Q9NY10|Q9NZI1 hg19 CCDS7525.1 0.02 8.206892 GGTxTGG COVERED NOVEL KCNIP2-010 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000049974.1 0 8.962981 KEEP 0 1 29 40 1378 GG 1 1 0 - 10 60 356 0 0 22.696851 211 60 7460 298 ENST00000348850.5 0.045249 1 KCNIP2 30819 __UNKNOWN__ __UNKNOWN__ 10 103588734 103588734 __UNKNOWN__ Intron SNP A A G rs1562364 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:103588734A>G ENST00000348850.5 - 2 245 KCNIP2_ENST00000355657.2_Intron|KCNIP2_ENST00000461105.1_Intron|KCNIP2_ENST00000353068.3_Intron|KCNIP2_ENST00000370046.1_Intron|KCNIP2_ENST00000356640.2_Intron|KCNIP2_ENST00000358038.3_Intron|KCNIP2_ENST00000343195.4_Intron NM_173194.2 NP_775286.1 Q9NS61 KCIP2_HUMAN Kv channel interacting protein 2 NA NA clustering of voltage-gated potassium channels (GO:0045163)|detection of calcium ion (GO:0005513)|membrane repolarization (GO:0086009)|muscle contraction (GO:0006936)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of cation channel activity (GO:2001257)|regulation of heart contraction (GO:0008016)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268) cytoplasm (GO:0005737)|voltage-gated potassium channel complex (GO:0008076) A-type (transient outward) potassium channel activity (GO:0005250)|calcium ion binding (GO:0005509)|ER retention sequence binding (GO:0046923)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein N-terminus binding (GO:0047485) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 11 Colorectal(252;0.122) Epithelial(162;4.93e-09)|all cancers(201;2.63e-07) CCTTCCGCCCACACCTCAAGC 0.607 NA G||| 2714 0.541933 0.441 0.5317 5008 , , NA 14012 0.75 NA 0.5984 False NA ,,, NA NA NA 2504 0.4131 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS7521.1, CCDS7522.1, CCDS7523.1, CCDS7524.1, CCDS7525.1, CCDS7526.1, CCDS41562.1 10q24.32 2013-09-20 2001-11-29 ENSG00000120049 ENSG00000120049 30819 EF-hand domain containing 15522 protein-coding gene gene with protein product 604661 Kv channel-interacting protein 2 NA 10676964 Standard NM_173192 NA Approved KCHIP2 uc001kuc.3 Q9NS61 OTTHUMG00000018937 ENST00000348850.5:c.213+97T>C chr10.hg19:g.103588734A>G NA A6NJE5|A8MQ75|Q3YAC6|Q3YAC8|Q3YAC9|Q7Z6F1|Q96K86|Q96T41|Q96T42|Q96T43|Q96T44|Q9H0N4|Q9HD10|Q9HD11|Q9NS60|Q9NY10|Q9NZI1 hg19 CCDS7525.1 0.02 5.065186 CCCxCAC COVERED NOVEL KCNIP2-010 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000049974.1 0 20.091981 KEEP 0 1 29 77 2389 AA 1 1 0 - 7 60 216 0 0 12.103867 174 60 5993 313 ENST00000348850.5 0.038674 1 C10orf76 79591 __UNKNOWN__ __UNKNOWN__ 10 103799758 103799758 __UNKNOWN__ Intron SNP C C T rs11191190 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:103799758C>T ENST00000370033.4 - 2 222 C10orf76_ENST00000311122.5_Intron NM_024541.2 NP_078817.2 Q5T2E6 CJ076_HUMAN chromosome 10 open reading frame 76 NA NA integral component of membrane (GO:0016021) autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2) 24 Colorectal(252;0.123) Epithelial(162;2.41e-08)|all cancers(201;6.41e-07) ACAACAAGGCCGCAGGCCTTA 0.473 NA T||| 1616 0.322684 0.295 0.2507 5008 , , NA 19387 0.5129 NA 0.2535 False NA ,,, NA NA NA 2504 0.2863 NA NA NA NA 0 T 1071,2717 153,765,976 129 122 124 1.5 0 10 dbSNP_120 124 2003,6221 251,1501,2360 no intron C10orf76 NM_024541.2 404,2266,3336 TT,TC,CC 24.3555,28.2735,25.5911 103799758 3074,8938 1894 4112 6006 SO:0001627 intron_variant AK023176 CCDS41563.1 10q24.32 2008-10-21 ENSG00000120029 ENSG00000120029 79591 25788 protein-coding gene gene with protein product NA 14702039 Standard NM_024541 NM_024541 NA Approved FLJ13114 uc009xwy.1 Q5T2E6 OTTHUMG00000018943 ENST00000370033.4:c.102+11G>A chr10.hg19:g.103799758C>T NA Q2TB87|Q9H8Z9 hg19 CCDS41563.1 0.02 11.121301 GGCxGCA COVERED NOVEL C10orf76-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050007.1 3 16.854271 KEEP 0 0 0 56 1927 CC 1 1 0 - 9 60 345 1 0 21.421463 278 60 9872 415 ENST00000370033.4 0.031359 1 C10orf95 79946 __UNKNOWN__ __UNKNOWN__ 10 104210735 104210735 __UNKNOWN__ Missense_Mutation SNP C C A rs2281878 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:104210735C>A ENST00000239125.1 - 2 327 c.253G>T c.(253-255)Gct>Tct p.A85S RP11-18I14.10_ENST00000473970.2_RNA|RP11-18I14.10_ENST00000492465.2_RNA|RP11-18I14.10_ENST00000596366.1_RNA|RP11-18I14.10_ENST00000494270.2_RNA|RP11-18I14.10_ENST00000596045.1_RNA|RP11-18I14.10_ENST00000594818.1_RNA NM_024886.1 NP_079162.1 Q9H7T3 CJ095_HUMAN chromosome 10 open reading frame 95 85 Arg/Pro-rich. NA liver(1) 1 Colorectal(252;0.207) Epithelial(162;8.34e-09)|all cancers(201;1.95e-07)|BRCA - Breast invasive adenocarcinoma(275;0.213) GCTGCGGAAGCTGTGGGCCTG 0.766 NA C||| 1422 0.283946 0.2481 0.2147 5008 , , NA 8527 0.3661 NA 0.2107 False NA ,,, NA NA NA 2504 0.3722 NA NA NA NA 0 C SER/ALA 686,2688 69,548,1070 4 6 5 253 0.9 1 10 dbSNP_100 5 1301,5815 124,1053,2381 yes missense C10orf95 NM_024886.1 99 193,1601,3451 AA,AC,CC 18.2827,20.332,18.9418 possibly-damaging 85/258 104210735 1987,8503 1687 3558 5245 SO:0001583 missense AK024342 CCDS7534.1 10q24.32 2014-02-19 2014-02-19 2014-02-19 ENSG00000120055 ENSG00000120055 79946 25880 protein-coding gene gene with protein product NA Standard NM_024886 NM_024886 NA Approved FLJ14280 uc001kvo.1 Q9H7T3 OTTHUMG00000018959 ENST00000239125.1:c.253G>T chr10.hg19:g.104210735C>A ENSP00000239125:p.Ala85Ser NA A0AVQ7 hg19 CCDS7534.1 0.02 2.010211 AAGxTGT COVERED 525 0.2403846153846154 101 0.20528455284552846 71 0.19613259668508287 200 0.34965034965034963 153 0.20184696569920843 C 12.47 1.948662 0.34377 0.20332 0.182827 ENSG00000120055 ENST00000239125 . . . 4.68 0.951 0.19579 . 0.773948 0.10608 N 0.654824 T 0.00012 0.0000 N 0.08118 0 0.53688 P 2.5000000000052758E-5 B 0.33807 0.426 B 0.32090 0.14 T 0.45891 -0.9230 8 0.33940 T 0.23 -38.6243 6.6233 0.22816 0.0:0.3488:0.0:0.6512 rs2281878 85 Q9H7T3 CJ095_HUMAN S 85 . ENSP00000239125:A85S A - 1 0 C10orf95 104200725 0.997000 0.39634 0.987000 0.45799 0.038000 0.13279 0.038000 0.13862 0.047000 0.15862 -0.350000 0.07774 GCT NOVEL C10orf95-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050065.1 0 21.551532 KEEP 0 2 37 85 2907 CC 1 0.999962 0 - 6 60 209 0 0 13.91295 94 60 3433 232 ENST00000239125.1 0.06 0.999962 TMEM180 79847 __UNKNOWN__ __UNKNOWN__ 10 104236645 104236645 __UNKNOWN__ 3'UTR SNP G G A rs3740409 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:104236645G>A ENST00000238936.4 + 0 2695 NM_024789.3 NP_079065.2 Q14CX5 TM180_HUMAN transmembrane protein 180 NA NA integral component of membrane (GO:0016021) breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1) 13 Colorectal(252;0.122) Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) CTCCCACTCCGTCCACCCTTC 0.577 NA G||| 1028 0.205272 0.0378 0.2406 5008 , , NA 17435 0.4296 NA 0.1272 False NA ,,, NA NA NA 2504 0.2556 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK026182 CCDS7535.1 10q24.32 2011-02-09 2006-10-12 2006-10-12 ENSG00000138111 ENSG00000138111 79847 26196 protein-coding gene gene with protein product C10orf77 NA 12477932 Standard NM_024789 XM_006717971 NA Approved FLJ22529, bA18I14.8 uc001kvt.3 Q14CX5 OTTHUMG00000018961 ENST00000238936.4:c.*904G>A chr10.hg19:g.104236645G>A NA Q6NWM8|Q6NWM9|Q6PEZ7|Q9H679 hg19 CCDS7535.1 0.02 8.261076 TCCxTCC COVERED NOVEL TMEM180-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050075.2 1 21.669259 KEEP 0 0 0 72 2471 GG 1 1 0 + 9 60 325 0 0 20.374789 217 60 7665 387 ENST00000238936.4 0.039823 1 SUFU 51684 __UNKNOWN__ __UNKNOWN__ 10 104359350 104359350 __UNKNOWN__ Intron SNP T T C rs3824756 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:104359350T>C ENST00000369902.3 + 8 1188 SUFU_ENST00000369899.2_Intron|SUFU_ENST00000423559.2_Intron NM_016169.3 NP_057253.2 Q9UMX1 SUFU_HUMAN suppressor of fused homolog (Drosophila) NA NA cytoplasmic sequestering of transcription factor (GO:0042994)|heart looping (GO:0001947)|multicellular organismal development (GO:0007275)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skin development (GO:0043588)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775) cytoplasm (GO:0005737)|nucleus (GO:0005634)|primary cilium (GO:0072372) protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134) breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2) 24 Colorectal(252;0.207) Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242) GACTTTTTTCTGAAGGGCCTG 0.582 NA D, F, S medulloblastoma medulloblastoma Medulloblastoma, associated with Germline SUFU Mutation T||| 1242 0.248003 0.2307 0.2406 5008 , , NA 18718 0.4355 NA 0.0944 False NA ,,, NA NA NA 2504 0.2413 NA NA NA yes Rec yes Medulloblastoma predisposition 10 10q24.32 51684 suppressor of fused homolog (Drosophila) O 0 T , 962,3442 346.7+/-309.1 99,764,1339 27 27 27 , -0.7 0 10 dbSNP_107 27 711,7887 166.8+/-218.7 25,661,3613 no intron,intron SUFU NM_001178133.1,NM_016169.3 , 124,1425,4952 CC,CT,TT 8.2694,21.8438,12.8673 , , 104359350 1673,11329 2202 4299 6501 SO:0001627 intron_variant Familial Cancer Database AF175770 CCDS7537.1, CCDS53571.1 10q24.32 2014-09-17 ENSG00000107882 ENSG00000107882 51684 16466 protein-coding gene gene with protein product 607035 NA 15367681 Standard NM_016169 NM_016169 NA Approved SUFUH, SUFUXL, PRO1280 uc001kvy.2 Q9UMX1 OTTHUMG00000018966 ENST00000369902.3:c.1022+49T>C chr10.hg19:g.104359350T>C NA Q7LCP7|Q9NT90|Q9NZ07|Q9UHK2|Q9UHM8|Q9UMY0 hg19 CCDS7537.1 0.02 3.110609 TTCxGAA COVERED NOVEL SUFU-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050089.1 2 6.054742 KEEP 0 1 37 33 1065 TT 0.999998 0.999997 0 + 6 60 184 0 0 10.911681 115 60 4180 161 ENST00000369902.3 0.049587 0.999999 SUFU 51684 __UNKNOWN__ __UNKNOWN__ 10 104386934 104386934 __UNKNOWN__ Silent SNP T T C rs17114803 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:104386934T>C ENST00000369902.3 + 11 1465 c.1299T>C c.(1297-1299)atT>atC p.I433I NM_016169.3 NP_057253.2 Q9UMX1 SUFU_HUMAN suppressor of fused homolog (Drosophila) 433 NA cytoplasmic sequestering of transcription factor (GO:0042994)|heart looping (GO:0001947)|multicellular organismal development (GO:0007275)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skin development (GO:0043588)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775) cytoplasm (GO:0005737)|nucleus (GO:0005634)|primary cilium (GO:0072372) protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134) breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2) 24 Colorectal(252;0.207) Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242) CTTCACAGATTCTGTTGACCG 0.398 NA D, F, S medulloblastoma medulloblastoma Medulloblastoma, associated with Germline SUFU Mutation T||| 1232 0.246006 0.2277 0.2378 5008 , , NA 20545 0.4335 NA 0.0934 False NA ,,, NA NA NA 2504 0.2403 NA NA NA yes Rec yes Medulloblastoma predisposition 10 10q24.32 51684 suppressor of fused homolog (Drosophila) O 0 T 954,3452 362.1+/-316.0 97,760,1346 169 169 169 1299 2.2 1 10 dbSNP_123 169 717,7883 175.5+/-225.5 26,665,3609 no coding-synonymous SUFU NM_016169.3 123,1425,4955 CC,CT,TT 8.3372,21.6523,12.8479 433/485 104386934 1671,11335 2203 4300 6503 SO:0001819 synonymous_variant Familial Cancer Database AF175770 CCDS7537.1, CCDS53571.1 10q24.32 2014-09-17 ENSG00000107882 ENSG00000107882 51684 16466 protein-coding gene gene with protein product 607035 NA 15367681 Standard NM_016169 NM_016169 NA Approved SUFUH, SUFUXL, PRO1280 uc001kvy.2 Q9UMX1 OTTHUMG00000018966 ENST00000369902.3:c.1299T>C chr10.hg19:g.104386934T>C NA Q7LCP7|Q9NT90|Q9NZ07|Q9UHK2|Q9UHM8|Q9UMY0 hg19 CCDS7537.1 0.02 12.518239 GATxCTG COVERED NOVEL SUFU-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050089.1 3 33.793159 KEEP 0 3 90 144 4444 TT 1 1 0 + 15 60 563 0 0 38.748791 238 60 8588 486 ENST00000369902.3 0.059289 1 SUFU 51684 __UNKNOWN__ __UNKNOWN__ 10 104387019 104387019 __UNKNOWN__ Intron SNP T T C rs12414407 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:104387019T>C ENST00000369902.3 + 11 1531 NM_016169.3 NP_057253.2 Q9UMX1 SUFU_HUMAN suppressor of fused homolog (Drosophila) NA NA cytoplasmic sequestering of transcription factor (GO:0042994)|heart looping (GO:0001947)|multicellular organismal development (GO:0007275)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skin development (GO:0043588)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775) cytoplasm (GO:0005737)|nucleus (GO:0005634)|primary cilium (GO:0072372) protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134) breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2) 24 Colorectal(252;0.207) Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242) GTTTGACTTTTCCTGACAACA 0.488 NA D, F, S medulloblastoma medulloblastoma Medulloblastoma, associated with Germline SUFU Mutation C||| 3604 0.719649 0.7761 0.6311 5008 , , NA 19477 0.75 NA 0.6899 False NA ,,, NA NA NA 2504 0.7055 NA NA NA yes Rec yes Medulloblastoma predisposition 10 10q24.32 51684 suppressor of fused homolog (Drosophila) O 0 C 3251,1155 400.8+/-331.7 1193,865,145 143 136 139 3.2 0.1 10 dbSNP_120 139 5608,2992 455.5+/-363.8 1833,1942,525 no intron SUFU NM_016169.3 3026,2807,670 CC,CT,TT 34.7907,26.2143,31.8853 104387019 8859,4147 2203 4300 6503 SO:0001627 intron_variant Familial Cancer Database AF175770 CCDS7537.1, CCDS53571.1 10q24.32 2014-09-17 ENSG00000107882 ENSG00000107882 51684 16466 protein-coding gene gene with protein product 607035 NA 15367681 Standard NM_016169 NM_016169 NA Approved SUFUH, SUFUXL, PRO1280 uc001kvy.2 Q9UMX1 OTTHUMG00000018966 ENST00000369902.3:c.1365+19T>C chr10.hg19:g.104387019T>C NA Q7LCP7|Q9NT90|Q9NZ07|Q9UHK2|Q9UHM8|Q9UMY0 hg19 CCDS7537.1 0.02 12.526938 TTTxCCT COVERED NOVEL SUFU-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050089.1 7 31.56558 KEEP 0 2 72 130 4097 TT 1 1 0 + 13 60 511 0 1 35.074523 239 60 8601 495 ENST00000369902.3 0.051587 1 SUFU 51684 __UNKNOWN__ __UNKNOWN__ 10 104390303 104390303 __UNKNOWN__ 3'UTR SNP A A G rs2298278 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:104390303A>G ENST00000369902.3 + 0 2012 NM_016169.3 NP_057253.2 Q9UMX1 SUFU_HUMAN suppressor of fused homolog (Drosophila) NA NA cytoplasmic sequestering of transcription factor (GO:0042994)|heart looping (GO:0001947)|multicellular organismal development (GO:0007275)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skin development (GO:0043588)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775) cytoplasm (GO:0005737)|nucleus (GO:0005634)|primary cilium (GO:0072372) protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134) breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2) 24 Colorectal(252;0.207) Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242) GGACAGCCAGATGCAGAGCGA 0.587 NA D, F, S medulloblastoma medulloblastoma Medulloblastoma, associated with Germline SUFU Mutation G||| 1234 0.246406 0.2277 0.2378 5008 , , NA 15566 0.4335 NA 0.0954 False NA ,,, NA NA NA 2504 0.2403 NA NA NA yes Rec yes Medulloblastoma predisposition 10 10q24.32 51684 suppressor of fused homolog (Drosophila) O 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Familial Cancer Database AF175770 CCDS7537.1, CCDS53571.1 10q24.32 2014-09-17 ENSG00000107882 ENSG00000107882 51684 16466 protein-coding gene gene with protein product 607035 NA 15367681 Standard NM_016169 NM_016169 NA Approved SUFUH, SUFUXL, PRO1280 uc001kvy.2 Q9UMX1 OTTHUMG00000018966 ENST00000369902.3:c.*391A>G chr10.hg19:g.104390303A>G NA Q7LCP7|Q9NT90|Q9NZ07|Q9UHK2|Q9UHM8|Q9UMY0 hg19 CCDS7537.1 0.02 6.968404 CAGxTGC COVERED NOVEL SUFU-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050089.1 2 16.475951 KEEP 0 1 35 67 2057 AA 1 1 0 + 10 60 370 0 0 25.560761 149 60 5425 285 ENST00000369902.3 0.062893 1 SUFU 51684 __UNKNOWN__ __UNKNOWN__ 10 104391285 104391285 __UNKNOWN__ 3'UTR SNP C C T rs17114808 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:104391285C>T ENST00000369902.3 + 0 2994 NM_016169.3 NP_057253.2 Q9UMX1 SUFU_HUMAN suppressor of fused homolog (Drosophila) NA NA cytoplasmic sequestering of transcription factor (GO:0042994)|heart looping (GO:0001947)|multicellular organismal development (GO:0007275)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skin development (GO:0043588)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775) cytoplasm (GO:0005737)|nucleus (GO:0005634)|primary cilium (GO:0072372) protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134) breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2) 24 Colorectal(252;0.207) Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242) GGGACTGTTACAATACTTCAA 0.517 NA D, F, S medulloblastoma medulloblastoma Medulloblastoma, associated with Germline SUFU Mutation T||| 1231 0.245807 0.2277 0.2378 5008 , , NA 21670 0.4335 NA 0.0924 False NA ,,, NA NA NA 2504 0.2403 NA NA NA yes Rec yes Medulloblastoma predisposition 10 10q24.32 51684 suppressor of fused homolog (Drosophila) O 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Familial Cancer Database AF175770 CCDS7537.1, CCDS53571.1 10q24.32 2014-09-17 ENSG00000107882 ENSG00000107882 51684 16466 protein-coding gene gene with protein product 607035 NA 15367681 Standard NM_016169 NM_016169 NA Approved SUFUH, SUFUXL, PRO1280 uc001kvy.2 Q9UMX1 OTTHUMG00000018966 ENST00000369902.3:c.*1373C>T chr10.hg19:g.104391285C>T NA Q7LCP7|Q9NT90|Q9NZ07|Q9UHK2|Q9UHM8|Q9UMY0 hg19 CCDS7537.1 0.02 18.396175 TTAxAAT COVERED NOVEL SUFU-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050089.1 1 46.650505 KEEP 0 0 0 155 5461 CC 1 1 0 + 19 60 717 1 0 47.374141 391 60 14704 666 ENST00000369902.3 0.046341 1 SUFU 51684 __UNKNOWN__ __UNKNOWN__ 10 104392497 104392497 __UNKNOWN__ 3'UTR SNP T T C rs11191355 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:104392497T>C ENST00000369902.3 + 0 4206 NM_016169.3 NP_057253.2 Q9UMX1 SUFU_HUMAN suppressor of fused homolog (Drosophila) NA NA cytoplasmic sequestering of transcription factor (GO:0042994)|heart looping (GO:0001947)|multicellular organismal development (GO:0007275)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skin development (GO:0043588)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775) cytoplasm (GO:0005737)|nucleus (GO:0005634)|primary cilium (GO:0072372) protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134) breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2) 24 Colorectal(252;0.207) Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242) CTTGCCTAGTTGTACCCACCC 0.572 NA D, F, S medulloblastoma medulloblastoma Medulloblastoma, associated with Germline SUFU Mutation C||| 1547 0.308906 0.2693 0.268 5008 , , NA 19013 0.5159 NA 0.165 False NA ,,, NA NA NA 2504 0.3262 NA NA NA yes Rec yes Medulloblastoma predisposition 10 10q24.32 51684 suppressor of fused homolog (Drosophila) O 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Familial Cancer Database AF175770 CCDS7537.1, CCDS53571.1 10q24.32 2014-09-17 ENSG00000107882 ENSG00000107882 51684 16466 protein-coding gene gene with protein product 607035 NA 15367681 Standard NM_016169 NM_016169 NA Approved SUFUH, SUFUXL, PRO1280 uc001kvy.2 Q9UMX1 OTTHUMG00000018966 ENST00000369902.3:c.*2585T>C chr10.hg19:g.104392497T>C NA Q7LCP7|Q9NT90|Q9NZ07|Q9UHK2|Q9UHM8|Q9UMY0 hg19 CCDS7537.1 0.02 9.32114 AGTxGTA COVERED NOVEL SUFU-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050089.1 1 9.796303 KEEP 0 2 67 56 1709 TT 1 1 0 + 12 60 419 0 0 27.418017 208 60 7497 340 ENST00000369902.3 0.054545 1 ARL3 403 __UNKNOWN__ __UNKNOWN__ 10 104436641 104436641 __UNKNOWN__ 3'UTR SNP C C T rs8354 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:104436641C>T ENST00000260746.5 - 0 690 NM_004311.3 NP_004302.1 P36405 ARL3_HUMAN ADP-ribosylation factor-like 3 NA NA cilium morphogenesis (GO:0060271)|cytokinesis (GO:0000910)|intraciliary transport (GO:0042073)|kidney development (GO:0001822)|photoreceptor cell development (GO:0042461)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|smoothened signaling pathway (GO:0007224) centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)|spindle microtubule (GO:0005876) GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|microtubule binding (GO:0008017) large_intestine(2) 2 Colorectal(252;0.122) Epithelial(162;4.88e-09)|all cancers(201;1.29e-07)|BRCA - Breast invasive adenocarcinoma(275;0.22) CATCTCCATTCGTCTAGATTT 0.433 NA C||| 1034 0.20647 0.0537 0.2262 5008 , , NA 18993 0.4494 NA 0.0974 False NA ,,, NA NA NA 2504 0.2607 NA NA NA NA 0 C 216,4190 130.6+/-167.2 5,206,1992 149 155 153 -0.3 0.2 10 dbSNP_52 153 740,7860 178.3+/-227.7 32,676,3592 yes utr-3 ARL3 NM_004311.3 37,882,5584 TT,TC,CC 8.6047,4.9024,7.3505 104436641 956,12050 2203 4300 6503 SO:0001624 3_prime_UTR_variant U07151 CCDS7538.1 10q23.3 2014-05-09 ENSG00000138175 ENSG00000138175 403 ADP-ribosylation factors-like, ADP-ribosylation factors 694 protein-coding gene gene with protein product 604695 NA 8034651, 10072593 Standard NM_004311 NM_004311 NA Approved ARFL3 uc001kwa.3 P36405 OTTHUMG00000018965 ENST00000260746.5:c.*10G>A chr10.hg19:g.104436641C>T NA B2R6C7|Q53X83|Q5JSM2 hg19 CCDS7538.1 0.02 33.287761 ATTxGTC COVERED NOVEL ARL3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050088.2 5 64.039271 KEEP 0 4 123 256 8691 CC 1 1 0 - 30 60 1081 0 0 66.691977 782 60 27658 1377 ENST00000260746.5 0.036946 1 CYP17A1 1586 __UNKNOWN__ __UNKNOWN__ 10 104594507 104594507 __UNKNOWN__ Intron SNP A A G rs1004467 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:104594507A>G ENST00000369887.3 - 3 838 CYP17A1_ENST00000489268.1_5'UTR NM_000102.3 NP_000093.1 P05093 CP17A_HUMAN cytochrome P450, family 17, subfamily A, polypeptide 1 NA NA adrenal gland development (GO:0030325)|androgen biosynthetic process (GO:0006702)|biphenyl metabolic process (GO:0018879)|cellular response to antibiotic (GO:0071236)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to lipopolysaccharide (GO:0071222)|dibenzo-p-dioxin metabolic process (GO:0018894)|glucocorticoid biosynthetic process (GO:0006704)|hippocampus development (GO:0021766)|hormone biosynthetic process (GO:0042446)|Leydig cell differentiation (GO:0033327)|ovulation (GO:0030728)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|progesterone metabolic process (GO:0042448)|response to acetate (GO:0010034)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to herbicide (GO:0009635)|response to insecticide (GO:0017085)|response to ionizing radiation (GO:0010212)|response to methylmercury (GO:0051597)|response to nutrient levels (GO:0031667)|response to retinoic acid (GO:0032526)|response to steroid hormone (GO:0048545)|sex differentiation (GO:0007548)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805) axon (GO:0030424)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025) 17-alpha-hydroxyprogesterone aldolase activity (GO:0047442)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|steroid 17-alpha-monooxygenase activity (GO:0004508) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 18 Colorectal(252;0.122)|all_hematologic(284;0.152) Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) Abiraterone(DB05812)|Aminophenazone(DB01424)|Dexamethasone(DB01234)|Metoclopramide(DB01233)|Progesterone(DB00396) GTCAGGGTCTACTAGAACCTG 0.517 NA OREG0020487 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) A||| 1097 0.21905 0.1906 0.2118 5008 , , NA 20284 0.3472 NA 0.0944 False NA ,,, NA NA NA 2504 0.2587 NA NA NA NA 0 A 793,3613 318.2+/-295.5 75,643,1485 108 97 100 http://www.ncbi.nlm.nih.gov/pubmed?term -0.5 0 10 dbSNP_86 100 832,7768 191.8+/-238.0 33,766,3501 yes intron CYP17A1 NM_000102.3 108,1409,4986 GG,GA,AA http://www.ncbi.nlm.nih.gov/pubmed?term 9.6744,17.9982,12.4942 104594507 1625,11381 2203 4300 6503 SO:0001627 intron_variant M19489 CCDS7541.1 10q24.3 2010-05-04 2003-02-14 2003-02-28 ENSG00000148795 ENSG00000148795 1586 1.14.99.9 Cytochrome P450s 2593 protein-coding gene gene with protein product Steroid 17-alpha-monooxygenase 609300 cytochrome P450, subfamily XVII (steroid 17-alpha-hydroxylase), adrenal hyperplasia CYP17 NA 1347802 Standard NM_000102 NM_000102 NA Approved P450C17, CPT7, S17AH uc001kwg.3 P05093 OTTHUMG00000018969 ENST00000369887.3:c.666+34T>C chr10.hg19:g.104594507A>G 172 Q5TZV7 hg19 CCDS7541.1 0.02 4.787059 TCTxCTA COVERED NOVEL CYP17A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050101.1 0 6.017477 KEEP 0 0 0 20 607 AA 0.999863 0.999862 0 - 6 60 229 0 0 15.332822 118 60 4132 155 ENST00000369887.3 0.048387 0.999999 CYP17A1 1586 __UNKNOWN__ __UNKNOWN__ 10 104596981 104596981 __UNKNOWN__ Silent SNP G G A rs6162 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:104596981G>A ENST00000369887.3 - 1 309 c.138C>T c.(136-138)caC>caT p.H46H CYP17A1_ENST00000489268.1_5'UTR NM_000102.3 NP_000093.1 P05093 CP17A_HUMAN cytochrome P450, family 17, subfamily A, polypeptide 1 46 NA adrenal gland development (GO:0030325)|androgen biosynthetic process (GO:0006702)|biphenyl metabolic process (GO:0018879)|cellular response to antibiotic (GO:0071236)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to lipopolysaccharide (GO:0071222)|dibenzo-p-dioxin metabolic process (GO:0018894)|glucocorticoid biosynthetic process (GO:0006704)|hippocampus development (GO:0021766)|hormone biosynthetic process (GO:0042446)|Leydig cell differentiation (GO:0033327)|ovulation (GO:0030728)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|progesterone metabolic process (GO:0042448)|response to acetate (GO:0010034)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to herbicide (GO:0009635)|response to insecticide (GO:0017085)|response to ionizing radiation (GO:0010212)|response to methylmercury (GO:0051597)|response to nutrient levels (GO:0031667)|response to retinoic acid (GO:0032526)|response to steroid hormone (GO:0048545)|sex differentiation (GO:0007548)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805) axon (GO:0030424)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025) 17-alpha-hydroxyprogesterone aldolase activity (GO:0047442)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|steroid 17-alpha-monooxygenase activity (GO:0004508) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 18 Colorectal(252;0.122)|all_hematologic(284;0.152) Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) Abiraterone(DB05812)|Aminophenazone(DB01424)|Dexamethasone(DB01234)|Metoclopramide(DB01233)|Progesterone(DB00396) GCATATGGCCGTGTCTGGGGA 0.542 NA A||| 2216 0.442492 0.323 0.4236 5008 , , NA 19226 0.5913 NA 0.4115 False NA ,,, NA NA NA 2504 0.4959 NA NA NA NA 0 A 1606,2800 664.8+/-401.4 297,1012,894 106 107 107 138 -3.2 0 10 dbSNP_52 107 3530,5070 631.6+/-398.5 721,2088,1491 no coding-synonymous CYP17A1 NM_000102.3 1018,3100,2385 AA,AG,GG 41.0465,36.4503,39.4895 46/509 104596981 5136,7870 2203 4300 6503 SO:0001819 synonymous_variant M19489 CCDS7541.1 10q24.3 2010-05-04 2003-02-14 2003-02-28 ENSG00000148795 ENSG00000148795 1586 1.14.99.9 Cytochrome P450s 2593 protein-coding gene gene with protein product Steroid 17-alpha-monooxygenase 609300 cytochrome P450, subfamily XVII (steroid 17-alpha-hydroxylase), adrenal hyperplasia CYP17 NA 1347802 Standard NM_000102 NM_000102 NA Approved P450C17, CPT7, S17AH uc001kwg.3 P05093 OTTHUMG00000018969 ENST00000369887.3:c.138C>T chr10.hg19:g.104596981G>A NA Q5TZV7 hg19 CCDS7541.1 0.02 8.688593 GCCxTGT COVERED NOVEL CYP17A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050101.1 2 7.191272 KEEP 0 2 66 47 1597 GG 1 1 0 - 7 60 260 0 0 16.152571 194 60 6768 300 ENST00000369887.3 0.034826 1 CYP17A1 1586 __UNKNOWN__ __UNKNOWN__ 10 104597152 104597152 __UNKNOWN__ 5'UTR SNP A A G rs743572 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:104597152A>G ENST00000369887.3 - 0 138 CYP17A1_ENST00000489268.1_5'UTR NM_000102.3 NP_000093.1 P05093 CP17A_HUMAN cytochrome P450, family 17, subfamily A, polypeptide 1 NA NA adrenal gland development (GO:0030325)|androgen biosynthetic process (GO:0006702)|biphenyl metabolic process (GO:0018879)|cellular response to antibiotic (GO:0071236)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to lipopolysaccharide (GO:0071222)|dibenzo-p-dioxin metabolic process (GO:0018894)|glucocorticoid biosynthetic process (GO:0006704)|hippocampus development (GO:0021766)|hormone biosynthetic process (GO:0042446)|Leydig cell differentiation (GO:0033327)|ovulation (GO:0030728)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|progesterone metabolic process (GO:0042448)|response to acetate (GO:0010034)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to herbicide (GO:0009635)|response to insecticide (GO:0017085)|response to ionizing radiation (GO:0010212)|response to methylmercury (GO:0051597)|response to nutrient levels (GO:0031667)|response to retinoic acid (GO:0032526)|response to steroid hormone (GO:0048545)|sex differentiation (GO:0007548)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805) axon (GO:0030424)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025) 17-alpha-hydroxyprogesterone aldolase activity (GO:0047442)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|steroid 17-alpha-monooxygenase activity (GO:0004508) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 18 Colorectal(252;0.122)|all_hematologic(284;0.152) Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) Abiraterone(DB05812)|Aminophenazone(DB01424)|Dexamethasone(DB01234)|Metoclopramide(DB01233)|Progesterone(DB00396) GATAGACAGCAGTGGAGTAGA 0.527 NA G||| 2056 0.410543 0.326 0.4164 5008 , , NA 20341 0.5873 NA 0.3936 False NA ,,, NA NA NA 2504 0.3558 NA NA NA NA 0 GRCh37 CR942079 CYP17A1 R rs743572 G 1589,2815 293,1003,906 21 22 22 0.2 0 10 dbSNP_86 22 3383,5217 667,2049,1584 no utr-5 CYP17A1 NM_000102.3 960,3052,2490 GG,GA,AA 39.3372,36.0808,38.2344 104597152 4972,8032 2202 4300 6502 SO:0001623 5_prime_UTR_variant M19489 CCDS7541.1 10q24.3 2010-05-04 2003-02-14 2003-02-28 ENSG00000148795 ENSG00000148795 1586 1.14.99.9 Cytochrome P450s 2593 protein-coding gene gene with protein product Steroid 17-alpha-monooxygenase 609300 cytochrome P450, subfamily XVII (steroid 17-alpha-hydroxylase), adrenal hyperplasia CYP17 NA 1347802 Standard NM_000102 NM_000102 NA Approved P450C17, CPT7, S17AH uc001kwg.3 P05093 OTTHUMG00000018969 ENST00000369887.3:c.-34T>C chr10.hg19:g.104597152A>G NA Q5TZV7 hg19 CCDS7541.1 0.02 8.20562 AGCxGTG COVERED NOVEL CYP17A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050101.1 2 8.121698 KEEP 0 3 77 54 1655 AA 1 1 0 - 11 60 382 0 0 24.448299 211 60 7841 333 ENST00000369887.3 0.04955 1 C10orf32 119032 __UNKNOWN__ __UNKNOWN__ 10 104624475 104624475 __UNKNOWN__ 3'UTR SNP T T G rs4919691 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:104624475T>G ENST00000339834.5 + 0 2179 C10orf32-ASMT_ENST00000299353.6_Intron NM_001136200.1|NM_144591.3 NP_001129672.1|NP_653192.2 Q96B45 CJ032_HUMAN chromosome 10 open reading frame 32 NA NA large_intestine(1) 1 all_hematologic(284;0.176)|Colorectal(252;0.207) Epithelial(162;4.32e-09)|all cancers(201;1.14e-07)|BRCA - Breast invasive adenocarcinoma(275;0.217) CCAGAAATGTTAGAACAGGTG 0.249 NA G||| 2141 0.427516 0.3283 0.4092 5008 , , NA 14671 0.5942 NA 0.3698 False NA ,,, NA NA NA 2504 0.4622 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK098071 CCDS7542.2 10q24.33 2003-11-21 ENSG00000166275 ENSG00000166275 119032 23516 protein-coding gene gene with protein product NA Standard NM_144591 NM_144591 NA Approved FLJ40752 uc001kwi.2 Q96B45 OTTHUMG00000018975 ENST00000339834.5:c.*1794T>G chr10.hg19:g.104624475T>G NA B2R488|B3KUW4|C9K0X3 hg19 CCDS7542.2 0.02 10.201588 TGTxAGA COVERED NOVEL C10orf32-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050110.2 1 22.902823 KEEP 0 1 34 88 2774 TT 1 1 0 + 10 60 387 0 0 25.772365 212 60 7793 417 ENST00000339834.5 0.045045 1 NT5C2 22978 __UNKNOWN__ __UNKNOWN__ 10 104935369 104935369 __UNKNOWN__ Intron SNP T T G rs193160231 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:104935369T>G ENST00000470299.1 - 2 63 NT5C2_ENST00000369857.4_Intron|NT5C2_ENST00000343289.5_Intron P49902 5NTC_HUMAN 5'-nucleotidase, cytosolic II NA NA cell death (GO:0008219)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|nucleobase-containing small molecule metabolic process (GO:0055086)|phosphorylation (GO:0016310)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829) 5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleoside phosphotransferase activity (GO:0050146)|nucleotide binding (GO:0000166) cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1) 16 all_hematologic(284;0.176)|Colorectal(252;0.178) Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159) Adenosine triphosphate(DB00171)|Ribavirin(DB00811) TTGCGGCAGGTGCTTCCCCTG 0.567 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D38524 CCDS7544.1 10q24.32 2014-03-03 2002-04-18 2002-04-19 ENSG00000076685 ENSG00000076685 22978 8022 protein-coding gene gene with protein product purine 5' nucleotidase 600417 5'-nucleotidase (purine), cytosolic type B NT5B NA 7999131, 24482476 Standard NM_012229 NM_012229 NA Approved PNT5, GMP, cN-II, SPG65 uc001kwq.3 P49902 OTTHUMG00000018981 ENST00000470299.1:c.24-630A>C chr10.hg19:g.104935369T>G NA B7Z382|D3DR91|Q5JUV5 hg19 0.02 -0.276809 AGGxGCT COVERED NOVEL NT5C2-010 PUTATIVE basic protein_coding NA protein_coding OTTHUMT00000050130.2 1 3.898634 KEEP 0 0 0 13 298 TT 0.995343 0.736227 0 - 8 60 118 0 0 7.810542 24 60 604 55 ENST00000470299.1 0.25 0.739671 CALHM1 255022 __UNKNOWN__ __UNKNOWN__ 10 105217976 105217976 __UNKNOWN__ Missense_Mutation SNP C C T rs145546138 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:105217976C>T ENST00000329905.5 - 1 669 c.533G>A c.(532-534)cGt>cAt p.R178H RP11-225H22.4_ENST00000411906.1_RNA NM_001001412.3 NP_001001412.3 Q8IU99 CAHM1_HUMAN calcium homeostasis modulator 1 178 NA ATP transport (GO:0015867)|cation transport (GO:0006812)|protein homooligomerization (GO:0051260)|regulation of ion transmembrane transport (GO:0034765)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917) endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887) calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|identical protein binding (GO:0042802)|voltage-gated ion channel activity (GO:0005244) large_intestine(2)|liver(1)|lung(5)|ovary(1) 9 GCGGAGGTAACGCACGGCCAC 0.697 NA C||| 40 0.00798722 0.0 0.0 5008 , , NA 16846 0.0387 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 41 49 46 NA NA 10 NA 105217976 2203 4297 6500 SO:0001583 missense BC036208 CCDS7550.1 10q24.33 2008-07-02 2008-07-02 2008-07-02 ENSG00000185933 ENSG00000185933 255022 23494 protein-coding gene gene with protein product 612234 family with sequence similarity 26, member C FAM26C NA 18585350 Standard NM_001001412 NM_001001412 NA Approved uc001kxe.2 Q8IU99 OTTHUMG00000018991 ENST00000329905.5:c.533G>A chr10.hg19:g.105217976C>T ENSP00000329926:p.Arg178His NA Q5W091 hg19 CCDS7550.1 0.02 11.32814 TAAxGCA COVERED 33 0.01510989010989011 0 0.0 0 0.0 33 0.057692307692307696 0 0.0 C 26.3 4.727375 0.89390 . . ENSG00000185933 ENST00000329905 T 0.19394 2.15 5.49 5.49 0.81192 . 0.048431 0.85682 D 0.000000 T 0.09598 0.0236 M 0.80183 2.485 0.52099 D 0.999948 D 0.89917 1.0 D 0.71414 0.973 T 0.04294 -1.0962 10 0.51188 T 0.08 -41.0963 18.3451 0.90319 0.0:1.0:0.0:0.0 . 178 Q8IU99 CAHM1_HUMAN H 178 ENSP00000329926:R178H ENSP00000329926:R178H R - 2 0 CALHM1 105207966 0.996000 0.38824 1.000000 0.80357 0.835000 0.47333 3.512000 0.53407 2.582000 0.87167 0.462000 0.41574 CGT NOVEL CALHM1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050165.1 5 27.082772 KEEP 0 0 0 90 3049 CC 1 1 0 - 12 60 435 0 0 28.282842 240 60 8358 430 ENST00000329905.5 0.047619 1 NEURL 0 __UNKNOWN__ __UNKNOWN__ 10 105351035 105351035 __UNKNOWN__ 3'UTR SNP G G T rs79220716 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:105351035G>T ENST00000369780.4 + 0 3040 NEURL_ENST00000369777.2_3'UTR|SH3PXD2A_ENST00000427662.2_Intron NM_004210.4 NP_004201.3 O76050 NEUL1_HUMAN NA NA brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|lactation (GO:0007595)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Notch signaling pathway (GO:0045746)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse maturation (GO:0090129)|protein monoubiquitination (GO:0006513)|skeletal muscle tissue development (GO:0007519)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317) apical dendrite (GO:0097440)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211) ligase activity (GO:0016874)|translation factor activity, non-nucleic acid binding (GO:0045183)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 17 Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125) CATATCTTGTGCTGTCCAGGG 0.607 NA G||| 673 0.134385 0.0318 0.1945 5008 , , NA 17807 0.2738 NA 0.0656 False NA ,,, NA NA NA 2504 0.1575 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant NA NA NA NA ENST00000369780.4:c.*906G>T chr10.hg19:g.105351035G>T NA Q5TDR2|Q5TDR3|Q8TAN0|Q9H463 hg19 CCDS7551.1 0.02 3.794594 TGTxCTG COVERED NOVEL NEURL-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050170.1 2 12.019086 KEEP 0 0 0 40 1405 GG 1 0.999995 0 + 8 60 279 0 0 19.204982 104 60 3937 175 ENST00000369780.4 0.071429 0.999995 NEURL 0 __UNKNOWN__ __UNKNOWN__ 10 105351997 105351997 __UNKNOWN__ 3'UTR SNP G G A rs12217979 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:105351997G>A ENST00000369780.4 + 0 4002 NEURL_ENST00000369777.2_3'UTR|SH3PXD2A_ENST00000427662.2_Intron NM_004210.4 NP_004201.3 O76050 NEUL1_HUMAN NA NA brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|lactation (GO:0007595)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Notch signaling pathway (GO:0045746)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse maturation (GO:0090129)|protein monoubiquitination (GO:0006513)|skeletal muscle tissue development (GO:0007519)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317) apical dendrite (GO:0097440)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211) ligase activity (GO:0016874)|translation factor activity, non-nucleic acid binding (GO:0045183)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 17 Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125) GAGTTCTTCCGTGAGGGCTGC 0.602 NA G||| 634 0.126597 0.0182 0.1916 5008 , , NA 16491 0.2738 NA 0.0507 False NA ,,, NA NA NA 2504 0.1534 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant NA NA NA NA ENST00000369780.4:c.*1868G>A chr10.hg19:g.105351997G>A NA Q5TDR2|Q5TDR3|Q8TAN0|Q9H463 hg19 CCDS7551.1 0.02 4.419508 TCCxTGA COVERED NOVEL NEURL-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050170.1 0 11.129476 KEEP 0 0 0 37 1241 GG 1 0.999992 0 + 7 60 261 0 0 18.156548 102 60 3528 178 ENST00000369780.4 0.06422 0.999992 SH3PXD2A 9644 __UNKNOWN__ __UNKNOWN__ 10 105354443 105354443 __UNKNOWN__ 3'UTR SNP G G A rs2295588 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:105354443G>A ENST00000369774.4 - 0 10808 SH3PXD2A_ENST00000355946.2_3'UTR|SH3PXD2A_ENST00000427662.2_Intron Q5TCZ1 SPD2A_HUMAN SH3 and PX domains 2A NA NA superoxide metabolic process (GO:0006801) cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102) phosphatidylinositol binding (GO:0035091) breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1) 38 Colorectal(252;0.0815)|Breast(234;0.131) Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119) TTCAAGGAGGGTGGCTGTTTT 0.438 NA G||| 65 0.0129792 0.0 0.0101 5008 , , NA 22442 0.0565 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB007878 CCDS31278.1 10q25.1 2006-02-13 2006-02-13 2006-02-13 ENSG00000107957 ENSG00000107957 9644 23664 protein-coding gene gene with protein product five SH3 domains SH3 multiple domains 1 SH3MD1 NA 9687503 Standard NM_014631 XM_005270297 NA Approved FISH, KIAA0418 uc001kxj.1 Q5TCZ1 OTTHUMG00000018997 ENST00000369774.4:c.*7130C>T chr10.hg19:g.105354443G>A NA D3DR98|O43302|Q5TCZ2|Q5TDQ8 hg19 0.02 6.358342 AGGxTGG COVERED NOVEL SH3PXD2A-001 KNOWN basic protein_coding NA protein_coding OTTHUMT00000050178.1 0 13.543439 KEEP 0 0 0 45 1573 GG 1 1 0 - 7 60 251 0 0 15.54699 176 60 6354 263 ENST00000369774.4 0.038251 1 SH3PXD2A 9644 __UNKNOWN__ __UNKNOWN__ 10 105355413 105355413 __UNKNOWN__ 3'UTR SNP C C A rs186908784 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:105355413C>A ENST00000369774.4 - 0 9838 SH3PXD2A_ENST00000355946.2_3'UTR|SH3PXD2A_ENST00000427662.2_Intron Q5TCZ1 SPD2A_HUMAN SH3 and PX domains 2A NA NA superoxide metabolic process (GO:0006801) cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102) phosphatidylinositol binding (GO:0035091) breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1) 38 Colorectal(252;0.0815)|Breast(234;0.131) Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119) TGCAGGGGACCCCATTCTCTA 0.522 NA C||| 13 0.00259585 0.0 0.0 5008 , , NA 19992 0.0129 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB007878 CCDS31278.1 10q25.1 2006-02-13 2006-02-13 2006-02-13 ENSG00000107957 ENSG00000107957 9644 23664 protein-coding gene gene with protein product five SH3 domains SH3 multiple domains 1 SH3MD1 NA 9687503 Standard NM_014631 XM_005270297 NA Approved FISH, KIAA0418 uc001kxj.1 Q5TCZ1 OTTHUMG00000018997 ENST00000369774.4:c.*6160G>T chr10.hg19:g.105355413C>A NA D3DR98|O43302|Q5TCZ2|Q5TDQ8 hg19 0.02 9.306302 GACxCCA COVERED NOVEL SH3PXD2A-001 KNOWN basic protein_coding NA protein_coding OTTHUMT00000050178.1 0 15.951274 KEEP 0 0 0 53 1853 CC 1 1 0 - 11 60 393 0 0 25.364365 222 60 8122 321 ENST00000369774.4 0.04721 1 SH3PXD2A 9644 __UNKNOWN__ __UNKNOWN__ 10 105355414 105355414 __UNKNOWN__ 3'UTR SNP C C G rs190540263 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:105355414C>G ENST00000369774.4 - 0 9837 SH3PXD2A_ENST00000355946.2_3'UTR|SH3PXD2A_ENST00000427662.2_Intron Q5TCZ1 SPD2A_HUMAN SH3 and PX domains 2A NA NA superoxide metabolic process (GO:0006801) cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102) phosphatidylinositol binding (GO:0035091) breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1) 38 Colorectal(252;0.0815)|Breast(234;0.131) Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119) GCAGGGGACCCCATTCTCTAA 0.517 NA C||| 13 0.00259585 0.0 0.0 5008 , , NA 20058 0.0129 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB007878 CCDS31278.1 10q25.1 2006-02-13 2006-02-13 2006-02-13 ENSG00000107957 ENSG00000107957 9644 23664 protein-coding gene gene with protein product five SH3 domains SH3 multiple domains 1 SH3MD1 NA 9687503 Standard NM_014631 XM_005270297 NA Approved FISH, KIAA0418 uc001kxj.1 Q5TCZ1 OTTHUMG00000018997 ENST00000369774.4:c.*6159G>C chr10.hg19:g.105355414C>G NA D3DR98|O43302|Q5TCZ2|Q5TDQ8 hg19 0.02 9.433388 ACCxCAT COVERED NOVEL SH3PXD2A-001 KNOWN basic protein_coding NA protein_coding OTTHUMT00000050178.1 0 16.251723 KEEP 0 0 0 54 1871 CC 1 1 0 - 11 60 424 0 0 28.470646 219 60 7984 318 ENST00000369774.4 0.047826 1 COL17A1 1308 __UNKNOWN__ __UNKNOWN__ 10 105801253 105801253 __UNKNOWN__ Silent SNP G G A rs4918079 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:105801253G>A ENST00000353479.5 - 37 2885 c.2595C>T c.(2593-2595)cgC>cgT p.R865R COL17A1_ENST00000369733.3_Silent_p.R865R NM_000494.3 NP_000485.3 Q9UMD9 COHA1_HUMAN collagen, type XVII, alpha 1 865 Triple-helical region. NA cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581) basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 62 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) CTGGTGGCCCGCGTGGGCCGG 0.527 NA G||| 3375 0.673922 0.4372 0.768 5008 , , NA 19088 0.7589 NA 0.8131 False NA ,,, NA NA NA 2504 0.6963 NA NA NA NA 0 G 2213,2193 553.0+/-378.7 563,1087,553 26 29 28 2595 -3.1 1 10 dbSNP_111 28 7127,1473 720.5+/-406.3 2948,1231,121 no coding-synonymous COL17A1 NM_000494.3 3511,2318,674 AA,AG,GG 17.1279,49.773,28.187 865/1498 105801253 9340,3666 2203 4300 6503 SO:0001819 synonymous_variant M91669 CCDS7554.1 10q24.3 2013-01-16 ENSG00000065618 ENSG00000065618 1308 Collagens 2194 protein-coding gene gene with protein product 113811 BPAG2 NA 7916703 Standard NM_130778, NM_000494 NM_000494 NA Approved BP180 uc001kxr.3 Q9UMD9 OTTHUMG00000018998 ENST00000353479.5:c.2595C>T chr10.hg19:g.105801253G>A NA Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14 hg19 CCDS7554.1 0.02 5.910714 CCCxCGT COVERED NOVEL COL17A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050181.1 0 9.028577 KEEP 0 0 0 30 1013 GG 0.999997 0.999997 0 - 9 60 318 0 0 20.165045 191 60 6936 257 ENST00000353479.5 0.045 1 SFR1 119392 __UNKNOWN__ __UNKNOWN__ 10 105881837 105881837 __UNKNOWN__ 5'UTR SNP C C A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:105881837C>A ENST00000369729.3 + 0 22 SFR1_ENST00000463224.1_3'UTR NM_145247.4 NP_660290.3 Q86XK3 SFR1_HUMAN SWI5-dependent recombination repair 1 NA NA double-strand break repair via homologous recombination (GO:0000724) nucleus (GO:0005634)|Swi5-Sfr1 complex (GO:0032798) NA GCGCGTCAGGCAATCTGGCCA 0.687 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant BC020892 CCDS31279.1, CCDS31280.1 10q25.1 2013-10-11 2011-08-01 2011-08-01 ENSG00000156384 ENSG00000156384 119392 29574 protein-coding gene gene with protein product chromosome 10 open reading frame 78, MEI5 recombination repair protein homolog (S. cerevisiae) C10orf78, MEIR5 NA 21252223, 21779174, 20976249 Standard NM_145247 NM_145247 NA Approved MEI5, bA373N18.1, FLJ41960 uc001kxu.3 Q86XK3 OTTHUMG00000019000 ENST00000369729.3:c.-102C>A chr10.hg19:g.105881837C>A NA A8K569|B2RTV8|Q5JT39|Q5JT40|Q8WW47 hg19 CCDS31280.1 0.02 -0.349568 AGGxAAT COVERED NOVEL SFR1-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000050190.1 1 4.819754 KEEP 0 6 71 43 1220 CC 1 0.888875 0 + 6 60 137 0 0 9.307099 35 60 854 138 ENST00000369729.3 0.146341 0.888875 WDR96 0 __UNKNOWN__ __UNKNOWN__ 10 105952623 105952623 __UNKNOWN__ 3'UTR SNP C C A rs11813171 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:105952623C>A ENST00000369720.1 - 0 2504 WDR96_ENST00000357060.3_Intron|WDR96_ENST00000278064.2_Intron|WDR96_ENST00000428666.1_Intron NA NA NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 tggagctgggcagtccacagt 0.498 NA C||| 748 0.149361 0.233 0.1254 5008 , , NA 17481 0.1538 NA 0.0686 False NA ,,, NA NA NA 2504 0.1319 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant NA NA NA NA ENST00000369720.1:c.*997G>T chr10.hg19:g.105952623C>A NA hg19 0.02 6.67598 GGGxAGT COVERED NOVEL WDR96-005 KNOWN basic protein_coding NA protein_coding OTTHUMT00000050202.1 1 6.0199 KEEP 0 0 0 20 731 CC 0.999863 0.999863 0 - 7 60 230 0 0 13.942878 173 60 6522 226 ENST00000369720.1 0.038889 1 MIR4482-1 0 __UNKNOWN__ __UNKNOWN__ 10 106028157 106028157 __UNKNOWN__ RNA SNP G G T rs641071 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:106028157G>T ENST00000583050.1 - 0 20 NR_039702.1 NA NA NA CCACTGGGTTGCTCACTATTC 0.423 NA T||| 2266 0.452476 0.8079 0.2911 5008 , , NA 18960 0.254 NA 0.3956 False NA ,,, NA NA NA 2504 0.3497 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000583050.1: chr10.hg19:g.106028157G>T NA hg19 0.02 15.02955 GTTxCTC COVERED NOVEL MIR4482-1-201 KNOWN basic miRNA NA miRNA 3 38.240386 KEEP 0 2 65 150 5327 GG 1 1 0 - 13 60 451 0 0 26.691826 372 60 13977 714 ENST00000583050.1 0.033766 1 GSTO2 119391 __UNKNOWN__ __UNKNOWN__ 10 106039185 106039185 __UNKNOWN__ Missense_Mutation SNP A A G rs156697 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:106039185A>G ENST00000338595.2 + 5 744 c.424A>G c.(424-426)Aat>Gat p.N142D GSTO2_ENST00000477078.2_3'UTR|GSTO2_ENST00000369707.2_Missense_Mutation_p.N114D|GSTO2_ENST00000450629.2_Intron|GSTO2_ENST00000401888.2_Missense_Mutation_p.N142D|GSTO2_ENST00000429569.2_Intron NM_183239.1 NP_899062.1 Q9H4Y5 GSTO2_HUMAN glutathione S-transferase omega 2 142 GST C-terminal. NA N -> D (in dbSNP:rs156697). {ECO:0000269|PubMed:12618591}. cellular response to arsenic-containing substance (GO:0071243)|glutathione derivative biosynthetic process (GO:1901687)|L-ascorbic acid metabolic process (GO:0019852)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) glutathione dehydrogenase (ascorbate) activity (GO:0045174)|glutathione transferase activity (GO:0004364)|methylarsonate reductase activity (GO:0050610)|oxidoreductase activity (GO:0016491) p.N142D(1) NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 11 Colorectal(252;0.178) Epithelial(162;1.14e-09)|all cancers(201;3.89e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0155) Glutathione(DB00143) AGAATGCACTAATCTGAAGGC 0.527 NA G||| 2207 0.440695 0.8048 0.2752 5008 , , NA 21195 0.255 NA 0.3668 False NA ,,, NA NA NA 2504 0.3333 NA NA NA NA 1 Substitution - Missense(1) stomach(1) G ,ASP/ASN,,ASP/ASN 3273,1133 405.8+/-333.6 1225,823,155 150 132 138 ,340,,424 4 0.1 10 dbSNP_79 138 2929,5671 669.5+/-402.7 498,1933,1869 yes intron,missense,intron,missense GSTO2 NM_001191013.1,NM_001191014.1,NM_001191015.1,NM_183239.1 ,23,,23 1723,2756,2024 GG,GA,AA 34.0581,25.7149,47.6857 ,benign,,benign ,114/216,,142/244 106039185 6202,6804 2203 4300 6503 SO:0001583 missense AY191318 CCDS7556.1, CCDS53574.1, CCDS53575.1 10q25.1 2012-06-21 ENSG00000065621 ENSG00000065621 119391 2.5.1.18, 1.8.5.1, 1.20.4.2 Glutathione S-transferases / Soluble 23064 protein-coding gene gene with protein product 612314 NA 12618591 Standard NM_183239 NM_001191013 NA Approved uc001kyb.3 Q9H4Y5 OTTHUMG00000019006 ENST00000338595.2:c.424A>G chr10.hg19:g.106039185A>G ENSP00000345023:p.Asn142Asp NA A8K771|B4DJW6|E7ESD6|Q49TW5|Q5GM70|Q5JU15|Q86WP3 hg19 CCDS7556.1 0.02 4.970114 ACTxATC COVERED 936 0.42857142857142855 399 0.8109756097560976 114 0.3149171270718232 152 0.26573426573426573 271 0.3575197889182058 G 0.500 -0.871174 0.02570 0.742851 0.340581 ENSG00000065621 ENST00000369708;ENST00000338595;ENST00000401888;ENST00000369707 T;T;T 0.12774 2.65;3.17;2.65 5.87 3.96 0.45880 Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1); 0.333001 0.34986 N 0.003530 T 0.00012 0.0000 N 0.01048 -1.04 0.58432 P 1.999999999946489E-6 B 0.02656 0.0 B 0.04013 0.001 T 0.16660 -1.0395 9 0.12103 T 0.63 -7.1748 7.3566 0.26723 0.1496:0.1367:0.7137:0.0 rs156697;rs601755;rs11565111;rs17826262;rs60436392;rs156697 142 Q9H4Y5 GSTO2_HUMAN D 142;142;142;114 ENSP00000345023:N142D;ENSP00000386011:N142D;ENSP00000358721:N114D ENSP00000345023:N142D N + 1 0 GSTO2 106029175 0.009000 0.17119 0.081000 0.20488 0.253000 0.25986 0.748000 0.26305 0.851000 0.35264 -0.733000 0.03571 AAT NOVEL GSTO2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050210.2 1 8.960855 KEEP 0 1 35 42 1278 AA 1 0.999999 0 + 6 60 236 0 0 15.991223 120 60 4253 218 ENST00000338595.2 0.047619 1 ITPRIP 85450 __UNKNOWN__ __UNKNOWN__ 10 106072963 106072963 __UNKNOWN__ 3'UTR SNP G G C rs3740465 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:106072963G>C ENST00000337478.1 - 0 3018 ITPRIP_ENST00000358187.2_3'UTR|ITPRIP_ENST00000278071.2_3'UTR|RP11-127L20.5_ENST00000472915.2_RNA NM_001272013.1 NP_001258942.1 Q8IWB1 IPRI_HUMAN inositol 1,4,5-trisphosphate receptor interacting protein NA NA membrane (GO:0016020)|plasma membrane (GO:0005886) breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1) 20 CCTAGGATTGGGACCCTGAGG 0.592 NA G||| 217 0.0433307 0.0628 0.0231 5008 , , NA 19370 0.1012 NA 0.0089 False NA ,,, NA NA NA 2504 0.0072 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB051541 CCDS7557.1 10q25.1 2011-04-28 2011-04-28 2008-08-11 ENSG00000148841 ENSG00000148841 85450 29370 protein-coding gene gene with protein product KIAA1754, inositol 1,4,5-triphosphate receptor interacting protein KIAA1754 NA 11214970, 16990268 Standard NM_033397 NM_001272012 NA Approved bA127L20.2, DANGER uc001kye.4 Q8IWB1 OTTHUMG00000019003 ENST00000337478.1:c.*1203C>G chr10.hg19:g.106072963G>C NA D3DRA5|Q5JU17|Q96MS8|Q9C0A9 hg19 CCDS7557.1 0.02 15.004013 TTGxGAC COVERED NOVEL ITPRIP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050204.1 7 42.73868 KEEP 0 0 0 142 5005 GG 1 1 0 - 11 60 393 0 0 23.309389 344 60 12355 617 ENST00000337478.1 0.030986 1 ITPRIP 85450 __UNKNOWN__ __UNKNOWN__ 10 106073191 106073191 __UNKNOWN__ 3'UTR SNP A A G rs28680198 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:106073191A>G ENST00000337478.1 - 0 2790 ITPRIP_ENST00000358187.2_3'UTR|ITPRIP_ENST00000278071.2_3'UTR|RP11-127L20.5_ENST00000472915.2_RNA NM_001272013.1 NP_001258942.1 Q8IWB1 IPRI_HUMAN inositol 1,4,5-trisphosphate receptor interacting protein NA NA membrane (GO:0016020)|plasma membrane (GO:0005886) breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1) 20 CCATGGCCTCAGGTGCCTTGT 0.552 NA G||| 840 0.167732 0.4766 0.0504 5008 , , NA 19600 0.12 NA 0.0209 False NA ,,, NA NA NA 2504 0.0337 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB051541 CCDS7557.1 10q25.1 2011-04-28 2011-04-28 2008-08-11 ENSG00000148841 ENSG00000148841 85450 29370 protein-coding gene gene with protein product KIAA1754, inositol 1,4,5-triphosphate receptor interacting protein KIAA1754 NA 11214970, 16990268 Standard NM_033397 NM_001272012 NA Approved bA127L20.2, DANGER uc001kye.4 Q8IWB1 OTTHUMG00000019003 ENST00000337478.1:c.*975T>C chr10.hg19:g.106073191A>G NA D3DRA5|Q5JU17|Q96MS8|Q9C0A9 hg19 CCDS7557.1 0.02 13.84137 CTCxGGT COVERED NOVEL ITPRIP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050204.1 6 29.205943 KEEP 1 1 28 107 3283 AA 1 1 0 - 11 60 384 0 0 22.422655 340 60 12464 555 ENST00000337478.1 0.031339 1 ITPRIP 85450 __UNKNOWN__ __UNKNOWN__ 10 106073566 106073566 __UNKNOWN__ 3'UTR SNP T T C rs386747186|rs505701 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:106073566T>C ENST00000337478.1 - 0 2415 ITPRIP_ENST00000358187.2_3'UTR|ITPRIP_ENST00000278071.2_3'UTR|RP11-127L20.5_ENST00000472915.2_RNA NM_001272013.1 NP_001258942.1 Q8IWB1 IPRI_HUMAN inositol 1,4,5-trisphosphate receptor interacting protein NA NA membrane (GO:0016020)|plasma membrane (GO:0005886) breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1) 20 ACGTTAGTCATTTGGGCCTCG 0.453 NA C||| 1940 0.38738 0.7738 0.2536 5008 , , NA 21056 0.1984 NA 0.335 False NA ,,, NA NA NA 2504 0.2086 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB051541 CCDS7557.1 10q25.1 2011-04-28 2011-04-28 2008-08-11 ENSG00000148841 ENSG00000148841 85450 29370 protein-coding gene gene with protein product KIAA1754, inositol 1,4,5-triphosphate receptor interacting protein KIAA1754 NA 11214970, 16990268 Standard NM_033397 NM_001272012 NA Approved bA127L20.2, DANGER uc001kye.4 Q8IWB1 OTTHUMG00000019003 ENST00000337478.1:c.*600A>G chr10.hg19:g.106073566T>C NA D3DRA5|Q5JU17|Q96MS8|Q9C0A9 hg19 CCDS7557.1 0.02 6.488446 TCAxTTG COVERED NOVEL ITPRIP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050204.1 3 18.786402 KEEP 0 1 30 73 2276 TT 1 1 0 - 8 60 300 0 0 19.399842 183 60 6521 312 ENST00000337478.1 0.041885 1 ITPRIP 85450 __UNKNOWN__ __UNKNOWN__ 10 106073779 106073779 __UNKNOWN__ 3'UTR SNP C C T rs2282091 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:106073779C>T ENST00000337478.1 - 0 2202 ITPRIP_ENST00000358187.2_3'UTR|ITPRIP_ENST00000278071.2_3'UTR NM_001272013.1 NP_001258942.1 Q8IWB1 IPRI_HUMAN inositol 1,4,5-trisphosphate receptor interacting protein NA NA membrane (GO:0016020)|plasma membrane (GO:0005886) breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1) 20 CTTGTAGATCCTCTGCTCATA 0.483 NA C||| 595 0.11881 0.2965 0.0418 5008 , , NA 20791 0.119 NA 0.0209 False NA ,,, NA NA NA 2504 0.0337 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB051541 CCDS7557.1 10q25.1 2011-04-28 2011-04-28 2008-08-11 ENSG00000148841 ENSG00000148841 85450 29370 protein-coding gene gene with protein product KIAA1754, inositol 1,4,5-triphosphate receptor interacting protein KIAA1754 NA 11214970, 16990268 Standard NM_033397 NM_001272012 NA Approved bA127L20.2, DANGER uc001kye.4 Q8IWB1 OTTHUMG00000019003 ENST00000337478.1:c.*387G>A chr10.hg19:g.106073779C>T NA D3DRA5|Q5JU17|Q96MS8|Q9C0A9 hg19 CCDS7557.1 0.02 4.150342 ATCxTCT COVERED NOVEL ITPRIP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050204.1 0 16.552723 KEEP 0 0 0 55 1946 CC 1 0.999998 0 - 5 60 177 0 0 11.122426 112 60 4137 216 ENST00000337478.1 0.042735 0.999998 SORCS3 22986 __UNKNOWN__ __UNKNOWN__ 10 106675585 106675585 __UNKNOWN__ Intron SNP C C T rs6584635 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:106675585C>T ENST00000369701.3 + 3 922 NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 NA NA learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452) integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481) neuropeptide receptor activity (GO:0008188) p.?(1) autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) TCTCTTTTACCTGCAGGTCGA 0.463 NA C||| 1554 0.310304 0.618 0.2421 5008 , , NA 15901 0.1538 NA 0.2445 False NA ,,, NA NA NA 2504 0.1718 NA NA NA NSCLC(116;1497 1690 7108 13108 14106) NA 1 Unknown(1) stomach(1) C 2358,2048 608.4+/-391.2 639,1080,484 114 104 107 0.5 0.1 10 dbSNP_116 107 2136,6464 366.6+/-334.4 274,1588,2438 no intron SORCS3 NM_014978.1 913,2668,2922 TT,TC,CC 24.8372,46.4821,34.5533 106675585 4494,8512 2203 4300 6503 SO:0001627 intron_variant AB028982 CCDS7558.1 10q23-q25 2006-04-12 ENSG00000156395 ENSG00000156395 22986 16699 protein-coding gene gene with protein product 606285 NA 11499680 Standard NM_014978 NM_014978 NA Approved KIAA1059, SORCS uc001kyi.1 Q9UPU3 OTTHUMG00000019011 ENST00000369701.3:c.696-6C>T chr10.hg19:g.106675585C>T NA Q5VXF9|Q9NQJ2 hg19 CCDS7558.1 0.02 13.682071 TACxTGC COVERED NOVEL SORCS3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050221.1 2 9.330702 KEEP 0 0 0 31 1131 CC 0.999997 0.999997 0 + 19 60 716 0 0 48.683321 328 60 12330 464 ENST00000369701.3 0.054755 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 107447822 107447822 __UNKNOWN__ IGR SNP G G T rs34230614 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:107447822G>T NA NA RNU6-463P (153299 upstream) : RP11-56I23.1 (120710 downstream) NA NA NA GCTGCAGAAGGGTTCCTTTAG 0.388 NA T||| 861 0.171925 0.3306 0.1196 5008 , , NA 17250 0.0347 NA 0.1928 False NA ,,, NA NA NA 2504 0.1145 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.107447822G>T NA hg19 0.02 1.898191 AAGxGTT COVERED NOVEL 0 1 5.116539 KEEP 0 0 0 17 590 GG 0.999366 0.999202 0 5 60 186 0 0 12.601513 85 60 3081 136 0.055556 0.999835 SORCS1 114815 __UNKNOWN__ __UNKNOWN__ 10 108437181 108437181 __UNKNOWN__ Intron SNP T T C rs41291862 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:108437181T>C ENST00000263054.6 - 13 1748 SORCS1_ENST00000369698.1_Intron|SORCS1_ENST00000344440.6_Intron NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 NA NA neuropeptide signaling pathway (GO:0007218) integral component of membrane (GO:0016021)|membrane (GO:0016020) neuropeptide receptor activity (GO:0008188) breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) GGAAAACACATACATGGACAC 0.423 NA T||| 151 0.0301518 0.0446 0.0115 5008 , , NA 20392 0.0139 NA 0.0159 False NA ,,, NA NA NA 2504 0.0552 NA NA NA NA 0 T ,,,,, 188,4218 120.4+/-158.0 3,182,2018 121 91 101 ,,,,, -11.3 0 10 dbSNP_127 101 123,8477 64.6+/-126.8 1,121,4178 no intron,intron,intron,intron,intron,intron SORCS1 NM_001013031.2,NM_001206569.1,NM_001206570.1,NM_001206571.1,NM_001206572.1,NM_052918.4 ,,,,, 4,303,6196 CC,CT,TT 1.4302,4.2669,2.3912 ,,,,, ,,,,, 108437181 311,12695 2203 4300 6503 SO:0001627 intron_variant AF284756 CCDS7559.1 10q23-q25 2004-04-20 ENSG00000108018 ENSG00000108018 114815 16697 protein-coding gene gene with protein product 606283 NA 11499680 Standard NM_052918 NM_001206570 NA Approved sorCS1 uc001kyl.3 Q8WY21 OTTHUMG00000019018 ENST00000263054.6:c.1741-19A>G chr10.hg19:g.108437181T>C NA A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2 hg19 CCDS7559.1 0.02 14.566819 ACAxACA COVERED NOVEL SORCS1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050232.4 0 10.829176 KEEP 0 0 0 36 1095 TT 0.999999 0.999999 0 - 12 60 472 0 0 30.996676 291 60 10553 420 ENST00000263054.6 0.039604 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 109224105 109224105 __UNKNOWN__ IGR SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:109224105C>T NA NA RNA5SP326 (2678 upstream) : RP11-215N21.1 (576033 downstream) NA NA NA gaccacagtgcaatcaaacta 0.577 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.109224105C>T NA hg19 0.02 -0.070186 GTGxAAT UNCOVERED NOVEL 0 3 3.30803 KEEP 2 0 0 11 381 CC 0.99254 0.053733 0 3 31 103 0 0 9.432695 5 60 197 26 0.375 0.054137 ADD3 120 __UNKNOWN__ __UNKNOWN__ 10 111890362 111890362 __UNKNOWN__ Intron SNP C C A rs13306109 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:111890362C>A ENST00000356080.4 + 13 2099 ADD3_ENST00000277900.8_Intron|ADD3_ENST00000360162.3_Intron NM_016824.3 NP_058432.1 Q9UEY8 ADDG_HUMAN adducin 3 (gamma) NA NA cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|plasma membrane (GO:0005886) structural constituent of cytoskeleton (GO:0005200) central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 29 Breast(234;0.052)|Lung NSC(174;0.223) Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742) acctgtaatcccagcactttg 0.478 NA C||| 1065 0.21266 0.0711 0.0908 5008 , , NA 18439 0.3948 NA 0.1342 False NA ,,, NA NA NA 2504 0.3834 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U37122 CCDS7561.1, CCDS7562.1 10q25.2 2005-11-08 ENSG00000148700 ENSG00000148700 120 245 protein-coding gene gene with protein product 601568 ADDL NA 8893809 Standard NM_019903 XM_005269529 NA Approved uc001kyv.3 Q9UEY8 OTTHUMG00000019032 ENST00000356080.4:c.1732+118C>A chr10.hg19:g.111890362C>A NA D3DRA8|O43243|Q5VU09|Q92773|Q9UEY7 hg19 CCDS7561.1 0.02 1.786491 ATCxCAG COVERED NOVEL ADD3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000050289.1 1 5.417304 KEEP 0 0 0 18 629 CC 0.999859 0.999078 0 + 4 60 136 0 0 8.616254 76 60 2731 103 ENST00000356080.4 0.05 0.999218 MXI1 4601 __UNKNOWN__ __UNKNOWN__ 10 112045171 112045171 __UNKNOWN__ 3'UTR SNP C C T rs14401 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:112045171C>T ENST00000332674.5 + 0 1518 MXI1_ENST00000361248.4_3'UTR|MXI1_ENST00000239007.7_3'UTR|MXI1_ENST00000485566.1_3'UTR NM_130439.3 NP_569157.2 P50539 MXI1_HUMAN MAX interactor 1, dimerization protein NA NA cytoplasmic sequestering of transcription factor (GO:0042994)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634) DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(1) 10 Breast(234;0.052)|Lung NSC(174;0.223) Epithelial(162;1.33e-05)|all cancers(201;0.000277)|BRCA - Breast invasive adenocarcinoma(275;0.127) AAAAACTATTCGAATGAAAAG 0.353 NA C||| 1780 0.355431 0.0227 0.549 5008 , , NA 16797 0.5387 NA 0.4891 False NA ,,, NA NA NA 2504 0.3415 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC016678 CCDS7563.1, CCDS7564.2, CCDS31284.1 10q24-q25 2012-11-15 2012-11-15 ENSG00000119950 ENSG00000119950 4601 MAX dimerization proteins, Basic helix-loop-helix proteins 7534 protein-coding gene gene with protein product 600020 MAX interacting protein 1, MAX interactor 1 NA 7959753 Standard NM_130439 NM_130439 NA Approved MXD2, MAD2, MXI, bHLHc11 uc001kyy.3 P50539 OTTHUMG00000019033 ENST00000332674.5:c.*426C>T chr10.hg19:g.112045171C>T NA B1ANN7|D3DR25|D3DRA9|Q15887|Q6FHW2|Q96E53 hg19 CCDS7563.1 0.02 4.158551 ATTxGAA COVERED NOVEL MXI1-004 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000050314.1 2 8.727375 KEEP 0 0 0 29 956 CC 0.999997 0.999994 0 + 6 60 213 0 0 13.9143 110 60 3870 162 ENST00000332674.5 0.051724 0.999997 SMC3 9126 __UNKNOWN__ __UNKNOWN__ 10 112343923 112343923 __UNKNOWN__ Intron SNP T T C rs11195200 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:112343923T>C ENST00000361804.4 + 13 1217 NM_005445.3 NP_005436.1 Q9UQE7 SMC3_HUMAN structural maintenance of chromosomes 3 NA NA DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827) basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922) ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982) NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(234;0.0848)|Lung NSC(174;0.238) Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127) TCATCCCATTTGCTTCTATTT 0.368 NA C||| 742 0.148163 0.084 0.1931 5008 , , NA 19640 0.2312 NA 0.1004 False NA ,,, NA NA NA 2504 0.1667 NA NA NA NA 0 C 354,4052 765.7+/-413.4 15,324,1864 71 71 71 -4.4 0 10 dbSNP_120 71 922,7678 770.2+/-407.7 51,820,3429 no intron SMC3 NM_005445.3 66,1144,5293 CC,CT,TT 10.7209,8.0345,9.8109 112343923 1276,11730 2203 4300 6503 SO:0001627 intron_variant AF020043 CCDS31285.1 10q25 2014-09-17 2006-07-06 2006-07-06 ENSG00000108055 ENSG00000108055 9126 Structural maintenance of chromosomes proteins, Proteoglycans / Extracellular Matrix : Other 2468 protein-coding gene gene with protein product bamacan proteoglycan 606062 chondroitin sulfate proteoglycan 6 (bamacan) CSPG6 NA 9506951, 10358101 Standard NM_005445 NM_005445 NA Approved HCAP, BAM, SMC3L1, bamacan uc001kze.3 Q9UQE7 OTTHUMG00000019042 ENST00000361804.4:c.1092-18T>C chr10.hg19:g.112343923T>C NA A8K156|O60464|Q5T482 hg19 CCDS31285.1 0.02 3.965331 ATTxGCT COVERED NOVEL SMC3-001 KNOWN non_canonical_conserved|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050337.1 1 8.422092 KEEP 0 0 0 28 818 TT 0.999997 0.999997 0 + 7 60 245 0 0 15.821772 131 60 4720 195 ENST00000361804.4 0.050725 1 ADRA2A 150 __UNKNOWN__ __UNKNOWN__ 10 112839903 112839903 __UNKNOWN__ 3'UTR SNP A A G rs13306144 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:112839903A>G ENST00000280155.2 + 0 3114 NM_000681.3 NP_000672.3 P08913 ADA2A_HUMAN adrenoceptor alpha 2A NA NA actin cytoskeleton organization (GO:0030036)|activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|acute inflammatory response (GO:0002526)|adenylate cyclase-inhibiting adrenergic receptor signaling pathway (GO:0071881)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|DNA replication (GO:0006260)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|fear response (GO:0042596)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|intestinal absorption (GO:0050892)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of adrenergic receptor signaling pathway (GO:0071878)|negative regulation of calcium ion transmembrane transporter activity (GO:1901020)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of insulin secretion (GO:0046676)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|phospholipase C-activating adrenergic receptor signaling pathway (GO:0071882)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of vasodilation (GO:0045909)|positive regulation of wound healing (GO:0090303)|Ras protein signal transduction (GO:0007265)|regulation of insulin secretion (GO:0050796)|regulation of vasoconstriction (GO:0019229)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|thermoception (GO:0050955) basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202) alpha-1B adrenergic receptor binding (GO:0031692)|alpha-2C adrenergic receptor binding (GO:0031696)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|heterotrimeric G-protein binding (GO:0032795)|norepinephrine binding (GO:0051380)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|thioesterase binding (GO:0031996) breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(234;0.0735)|Lung NSC(174;0.238) Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118) Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Dexmedetomidine(DB00633)|Dihydroergotamine(DB00320)|Dipivefrin(DB00449)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupirtine(DB06623)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Lofexidine(DB04948)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Naphazoline(DB06711)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pramipexole(DB00413)|Prazosin(DB00457)|Propericiazine(DB01608)|Pseudoephedrine(DB00852)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246) TCCTGTGCCTAACAGCATAAT 0.428 NA A||| 33 0.00658946 0.0 0.0 5008 , , NA 22131 0.0327 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA Esophageal Squamous(173;605 2658 7278 49362) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF284095 CCDS7569.2 10q25.2 2012-08-08 2012-05-09 ENSG00000150594 ENSG00000150594 150 GPCR / Class A : Adrenoceptors : alpha 281 protein-coding gene gene with protein product alpha-2AAR subtype C10, alpha-2A-adrenergic receptor 104210 adrenergic, alpha-2A-, receptor ADRA2, ADRA2R NA Standard NM_000681 NM_000681 NA Approved ADRAR uc001kzo.3 P08913 OTTHUMG00000019050 ENST00000280155.2:c.*751A>G chr10.hg19:g.112839903A>G NA B0LPF6|Q2I8G2|Q2XN99|Q86TH8|Q9BZK1 hg19 CCDS7569.2 0.02 9.938537 CCTxACA COVERED NOVEL ADRA2A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050372.2 4 18.953539 KEEP 0 0 0 63 1863 AA 1 1 0 + 9 60 353 0 0 23.316595 209 60 7323 325 ENST00000280155.2 0.041284 1 GPAM 57678 __UNKNOWN__ __UNKNOWN__ 10 113924366 113924366 __UNKNOWN__ Silent SNP T T C rs117905984 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:113924366T>C ENST00000348367.4 - 13 1421 c.1224A>G c.(1222-1224)gaA>gaG p.E408E GPAM_ENST00000423155.1_Silent_p.E408E|GPAM_ENST00000369425.1_Silent_p.E408E Q9HCL2 GPAT1_HUMAN glycerol-3-phosphate acyltransferase, mitochondrial 408 NA acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|defense response to virus (GO:0051607)|fatty acid homeostasis (GO:0055089)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|interleukin-2 secretion (GO:0070970)|negative regulation of activation-induced cell death of T cells (GO:0070236)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of multicellular organism growth (GO:0040018)|regulation of cytokine secretion (GO:0050707)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432) integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886) glycerol-3-phosphate O-acyltransferase activity (GO:0004366) breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Epithelial(162;0.0306)|all cancers(201;0.123) TTTCTAAATATTCCTGGAGAA 0.368 NA T||| 19 0.00379393 0.0 0.0 5008 , , NA 17214 0.0188 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA Ovarian(161;1017 2606 18293 52943) NA 0 57 59 59 NA NA 10 NA 113924366 2203 4300 6503 SO:0001819 synonymous_variant AL832464 CCDS7570.1 10q25.3 2009-07-15 ENSG00000119927 ENSG00000119927 57678 24865 protein-coding gene gene with protein product glycerol-3-phosphate acyltransferase 1, mitochondrial 602395 NA 10997877, 8369314 Standard NM_020918 NM_020918 NA Approved KIAA1560, MGC26846, GPAT1 uc001kzp.3 Q9HCL2 OTTHUMG00000019055 ENST00000348367.4:c.1224A>G chr10.hg19:g.113924366T>C NA Q5VW51|Q86TA3 hg19 CCDS7570.1 0.02 12.168564 ATAxTCC COVERED NOVEL GPAM-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050377.1 0 15.646705 KEEP 0 0 0 52 1647 TT 1 1 0 - 8 60 321 0 0 20.272402 262 60 9570 389 ENST00000348367.4 0.02963 1 VTI1A 143187 __UNKNOWN__ __UNKNOWN__ 10 114576753 114576753 __UNKNOWN__ 3'UTR SNP C C T rs1047468 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:114576753C>T ENST00000393077.2 + 0 2381 NM_145206.2 NP_660207.2 Q96AJ9 VTI1A_HUMAN vesicle transport through interaction with t-SNAREs 1A NA NA intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147) clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|SNARE complex (GO:0031201)|synaptic vesicle (GO:0008021) SNAP receptor activity (GO:0005484) VTI1A/TCF7L2(8) breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 6 Colorectal(252;0.0314)|Breast(234;0.183) Epithelial(162;0.0126)|all cancers(201;0.0487) GGATTTTGGCCGAGGGAAGCA 0.458 NA T TCF7L2 colorectal C||| 1489 0.297324 0.0582 0.2622 5008 , , NA 21026 0.5139 NA 0.2316 False NA ,,, NA NA NA 2504 0.4898 NA NA NA Dom yes 10 10q25.2 143187 vesicle transport through interaction with t-SNAREs homolog 1A E 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC017052 CCDS7575.2 10q25.2 2012-12-10 2012-12-10 ENSG00000151532 ENSG00000151532 143187 17792 protein-coding gene gene with protein product 614316 vesicle transport through interaction with t-SNAREs homolog 1A (yeast) NA 9446565 Standard NM_145206 NA Approved MVti1, Vti1a, Vti1-rp2 uc001kzz.3 Q96AJ9 OTTHUMG00000019063 ENST00000393077.2:c.*1611C>T chr10.hg19:g.114576753C>T NA A2A307|B4E137|Q5W0D7 hg19 CCDS7575.2 0.02 4.157591 GGCxGAG COVERED NOVEL VTI1A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050397.2 3 7.222721 KEEP 0 0 0 24 810 CC 0.999909 0.999909 0 + 5 60 188 0 0 11.839482 134 60 4573 188 ENST00000393077.2 0.035971 1 TCF7L2 6934 __UNKNOWN__ __UNKNOWN__ 10 114926790 114926790 __UNKNOWN__ 3'UTR SNP C C T rs11196251 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:114926790C>T ENST00000369397.4 + 0 3155 TCF7L2_ENST00000545257.1_3'UTR|TCF7L2_ENST00000543371.1_3'UTR|TCF7L2_ENST00000538897.1_3'UTR|TCF7L2_ENST00000355717.4_3'UTR|TCF7L2_ENST00000536810.1_3'UTR|TCF7L2_ENST00000355995.4_3'UTR NM_001198525.1|NM_001198527.1|NM_001198528.1|NM_030756.4 NP_001185454.1|NP_001185456.1|NP_001185457.1|NP_110383.2 Q9NQB0 TF7L2_HUMAN transcription factor 7-like 2 (T-cell specific, HMG-box) NA NA blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351) beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667) armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212) VTI1A/TCF7L2(8) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1) 41 Breast(234;0.058)|Colorectal(252;0.0615) Epithelial(162;0.00554)|all cancers(201;0.02) CCCTACCCTGCGCCCTTAGGA 0.463 NA T VTI1A colorectal C||| 526 0.105032 0.0121 0.0375 5008 , , NA 15968 0.2867 NA 0.0278 False NA ,,, NA NA NA 2504 0.1708 NA NA NA Dom yes 10 10q25.3 6934 transcription factor 7-like 2 E 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X62871 CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1 10q25.3 2006-11-24 ENSG00000148737 ENSG00000148737 6934 11641 protein-coding gene gene with protein product 602228 TCF4 NA 1741298 Standard NM_030756 NM_001146283 NA Approved TCF-4 uc001lae.4 Q9NQB0 OTTHUMG00000019070 ENST00000369397.4:c.*1059C>T chr10.hg19:g.114926790C>T NA B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2 hg19 CCDS7576.1 0.02 10.638367 CTGxGCC COVERED NOVEL TCF7L2-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000050413.1 1 15.083052 KEEP 0 1 31 61 2089 CC 1 1 0 + 10 60 361 0 0 22.629137 241 60 8625 373 ENST00000369397.4 0.039841 1 NRAP 4892 __UNKNOWN__ __UNKNOWN__ 10 115423014 115423014 __UNKNOWN__ Intron SNP A A T rs201023976 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:115423014A>T ENST00000359988.3 - 2 412 NRAP_ENST00000360478.3_Intron|NRAP_ENST00000369360.3_Intron|NRAP_ENST00000369358.4_Intron NM_001261463.1|NM_198060.3 NP_001248392.1|NP_932326.2 nebulin-related anchoring protein NA NA autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) TATTTCTTGGATTTAACCCTG 0.388 NA A||| 3 0.000599042 0.0 0.0 5008 , , NA 17396 0.003 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS7578.1, CCDS7579.1, CCDS73199.1 10q24-q26 2008-08-01 ENSG00000197893 ENSG00000197893 4892 7988 protein-coding gene gene with protein product 602873 NA 12789664, 10320340 Standard NM_006175 NM_006175 NA Approved uc001lal.4 Q86VF7 OTTHUMG00000019072 ENST00000359988.3:c.167+96T>A chr10.hg19:g.115423014A>T NA hg19 CCDS7579.1 0.02 10.923576 TGGxTTT COVERED NOVEL NRAP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050425.2 1 6.018064 KEEP 0 0 0 20 632 AA 0.999863 0.999863 0 - 10 60 350 0 0 21.368273 253 60 9015 317 ENST00000359988.3 0.038023 1 CASP7 840 __UNKNOWN__ __UNKNOWN__ 10 115457264 115457264 __UNKNOWN__ Missense_Mutation SNP T T G rs11555408 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:115457264T>G ENST00000345633.4 + 3 396 c.12T>G c.(10-12)gaT>gaG p.D4E CASP7_ENST00000369331.4_Missense_Mutation_p.D4E|CASP7_ENST00000369318.3_Missense_Mutation_p.D4E|CASP7_ENST00000369315.1_Missense_Mutation_p.D4E|CASP7_ENST00000369321.2_Missense_Mutation_p.D37E NM_033339.4 NP_203125.1 P55210 CASP7_HUMAN caspase 7, apoptosis-related cysteine peptidase 4 NA D -> E (in dbSNP:rs11593766). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.5}. activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway (GO:0097193)|proteolysis (GO:0006508) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234) kidney(1)|large_intestine(1)|lung(5)|ovary(1) 8 Colorectal(252;0.0946)|Breast(234;0.188) Epithelial(162;0.012)|all cancers(201;0.014) TGGCAGATGATCAGGGCTGTA 0.453 NA T||| 529 0.105631 0.146 0.0807 5008 , , NA 21630 0.0883 NA 0.1044 False NA ,,, NA NA NA 2504 0.0879 NA NA NA NA 0 T GLU/ASP,GLU/ASP,GLU/ASP,GLU/ASP 542,3864 246.2+/-254.9 35,472,1696 182 178 180 12,111,12,12 2 0.1 10 dbSNP_120 180 892,7708 201.3+/-244.8 59,774,3467 yes missense,missense,missense,missense CASP7 NM_001227.3,NM_033338.4,NM_033339.3,NM_033340.2 45,45,45,45 94,1246,5163 GG,GT,TT 10.3721,12.3014,11.0257 benign,benign,benign,benign 4/304,37/337,4/304,4/254 115457264 1434,11572 2203 4300 6503 SO:0001583 missense U37448 CCDS7580.1, CCDS7581.1, CCDS7582.1, CCDS58096.1, CCDS73200.1 10q25 2006-02-17 2005-08-17 ENSG00000165806 ENSG00000165806 840 Caspases 1508 protein-coding gene gene with protein product 601761 caspase 7, apoptosis-related cysteine protease NA 8521391, 8576161 Standard NM_033338 NM_033338 NA Approved MCH3, CMH-1, ICE-LAP3 uc010qsa.3 P55210 OTTHUMG00000019076 ENST00000345633.4:c.12T>G chr10.hg19:g.115457264T>G ENSP00000298701:p.Asp4Glu NA B4DQU7|B5BU45|D3DRB8|Q13364|Q53YD5|Q5SVL0|Q5SVL3|Q96BA0 hg19 CCDS7581.1 0.02 9.041614 TGAxCAG COVERED 231 0.10576923076923077 74 0.15040650406504066 32 0.08839779005524862 45 0.07867132867132867 80 0.10554089709762533 T 13.38 2.220932 0.39201 0.123014 0.103721 ENSG00000165806 ENST00000429617;ENST00000369331;ENST00000369321;ENST00000345633;ENST00000369318;ENST00000442393;ENST00000369319;ENST00000369316;ENST00000369315 T;T;T;T;T;T 0.11495 3.74;2.77;4.28;4.37;4.37;4.37 4.39 2.04 0.26737 . 0.454251 0.19939 N 0.102697 T 0.00073 0.0002 M 0.62723 1.935 0.36861 P 0.11158199999999996 B;B;P 0.45715 0.041;0.147;0.865 B;B;P 0.45310 0.026;0.042;0.476 T 0.20974 -1.0259 9 0.30078 T 0.28 . 5.7337 0.18055 0.0:0.2196:0.0:0.7804 rs11593766;rs17845478;rs17858357;rs11593766 37;4;4 P55210-3;P55210;P55210-2 .;CASP7_HUMAN;. E 4;4;37;4;4;4;4;4;4 ENSP00000400094:D4E;ENSP00000358337:D4E;ENSP00000358327:D37E;ENSP00000298701:D4E;ENSP00000358324:D4E;ENSP00000358321:D4E ENSP00000298701:D4E D + 3 2 CASP7 115447254 0.144000 0.22641 0.110000 0.21437 0.309000 0.27889 0.009000 0.13219 0.317000 0.23160 0.533000 0.62120 GAT NOVEL CASP7-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050439.1 1 16.849751 KEEP 0 0 0 56 1773 TT 1 1 0 + 7 60 267 0 0 16.449015 222 60 8200 351 ENST00000345633.4 0.030568 1 CASP7 840 __UNKNOWN__ __UNKNOWN__ 10 115490109 115490109 __UNKNOWN__ 3'UTR SNP G G A rs1127687 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:115490109G>A ENST00000345633.4 + 0 2106 CASP7_ENST00000369331.4_3'UTR|CASP7_ENST00000369318.3_3'UTR|CASP7_ENST00000369315.1_3'UTR|CASP7_ENST00000369321.2_3'UTR NM_033339.4 NP_203125.1 P55210 CASP7_HUMAN caspase 7, apoptosis-related cysteine peptidase NA NA activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway (GO:0097193)|proteolysis (GO:0006508) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234) kidney(1)|large_intestine(1)|lung(5)|ovary(1) 8 Colorectal(252;0.0946)|Breast(234;0.188) Epithelial(162;0.012)|all cancers(201;0.014) caagaacaaagccactgactg 0.527 NA G||| 1152 0.230032 0.3003 0.1427 5008 , , NA 20557 0.2163 NA 0.2296 False NA ,,, NA NA NA 2504 0.2117 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U37448 CCDS7580.1, CCDS7581.1, CCDS7582.1, CCDS58096.1, CCDS73200.1 10q25 2006-02-17 2005-08-17 ENSG00000165806 ENSG00000165806 840 Caspases 1508 protein-coding gene gene with protein product 601761 caspase 7, apoptosis-related cysteine protease NA 8521391, 8576161 Standard NM_033338 NM_033338 NA Approved MCH3, CMH-1, ICE-LAP3 uc010qsa.3 P55210 OTTHUMG00000019076 ENST00000345633.4:c.*810G>A chr10.hg19:g.115490109G>A NA B4DQU7|B5BU45|D3DRB8|Q13364|Q53YD5|Q5SVL0|Q5SVL3|Q96BA0 hg19 CCDS7581.1 0.02 10.541877 AAAxCCA COVERED NOVEL CASP7-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050439.1 2 10.534184 KEEP 0 0 0 35 1263 GG 0.999999 0.999999 0 + 9 60 328 0 0 20.08535 253 60 9437 352 ENST00000345633.4 0.034351 1 PLEKHS1 79949 __UNKNOWN__ __UNKNOWN__ 10 115515120 115515120 __UNKNOWN__ Intron SNP G G A rs3981351 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:115515120G>A ENST00000361048.1 + 2 355 PLEKHS1_ENST00000369312.4_5'UTR NM_024889.4 NP_079165.3 Q5SXH7 PKHS1_HUMAN pleckstrin homology domain containing, family S member 1 NA NA NA AATGCCCCACGGTTTCCTTCA 0.448 NA A||| 3462 0.691294 0.6498 0.7507 5008 , , NA 22823 0.5774 NA 0.7604 False NA ,,, NA NA NA 2504 0.7515 NA NA NA NA 0 A ,, 956,428 330,296,66 32 31 31 ,, -1.6 0 10 dbSNP_108 31 2434,748 922,590,79 no utr-5,utr-5,intron C10orf81 NM_001193434.1,NM_001193435.1,NM_024889.4 ,, 1252,886,145 AA,AG,GG 23.5072,30.9249,25.7556 ,, ,, 115515120 3390,1176 692 1591 2283 SO:0001627 intron_variant AK027190 CCDS7583.1, CCDS53580.1, CCDS53581.1 10q26.11 2013-01-11 2012-05-31 2012-05-31 ENSG00000148735 ENSG00000148735 79949 Pleckstrin homology (PH) domain containing 26285 protein-coding gene gene with protein product chromosome 10 open reading frame 81 C10orf81 NA 12477932 Standard NM_024889 NM_024889 NA Approved FLJ23537, bA211N11.2 uc001lat.2 Q5SXH7 OTTHUMG00000019074 ENST00000361048.1:c.28+56G>A chr10.hg19:g.115515120G>A NA A8KA02|B3KX00|B6EDE1|Q5SXH8|Q5SXI0|Q6ZQR5|Q8NE42|Q9H5D9 hg19 CCDS7583.1 0.02 3.991657 CACxGTT COVERED NOVEL PLEKHS1-201 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding 0 5.417459 KEEP 0 0 0 18 622 GG 0.999859 0.999859 0 + 5 60 180 0 0 11.103476 130 60 4749 174 ENST00000361048.1 0.037037 1 DCLRE1A 9937 __UNKNOWN__ __UNKNOWN__ 10 115609915 115609915 __UNKNOWN__ Missense_Mutation SNP C C G rs3750898 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:115609915C>G ENST00000361384.2 - 2 1866 c.949G>C c.(949-951)Gat>Cat p.D317H DCLRE1A_ENST00000369305.1_Missense_Mutation_p.D317H NM_014881.3 NP_055696.3 Q6PJP8 DCR1A_HUMAN DNA cross-link repair 1A 317 NA D -> H (in dbSNP:rs3750898). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.2, ECO:0000269|Ref.4}. mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289) nucleus (GO:0005634) breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1) 31 Epithelial(162;0.0157)|all cancers(201;0.0171) TGTGAATCATCCGGTTTTTCA 0.388 NA Other identified genes with known or suspected DNA repair function C||| 3294 0.657748 0.3086 0.817 5008 , , NA 20913 0.8185 NA 0.7942 False NA ,,, NA NA NA 2504 0.7106 NA NA NA NA 0 C HIS/ASP 1693,2713 512.9+/-368.2 325,1043,835 136 128 131 949 4.1 1 10 dbSNP_107 131 6603,1997 722.4+/-406.4 2535,1533,232 yes missense DCLRE1A NM_014881.3 81 2860,2576,1067 GG,GC,CC 23.2209,38.4249,36.2141 possibly-damaging 317/1041 115609915 8296,4710 2203 4300 6503 SO:0001583 missense CCDS7584.1 10q25.1 2010-06-24 2010-06-24 ENSG00000198924 ENSG00000198924 9937 17660 protein-coding gene gene with protein product PSO2 homolog (S. cerevisiae) 609682 DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae) NA 9806498, 17804464 Standard NM_014881 NM_014881 NA Approved SNM1, PSO2, KIAA0086, hSNM1 uc031pxf.1 Q6PJP8 OTTHUMG00000019077 ENST00000361384.2:c.949G>C chr10.hg19:g.115609915C>G ENSP00000355185:p.Asp317His NA D3DRC1|Q14701|Q6P5Y3|Q6PKL4 hg19 CCDS7584.1 0.02 17.518476 CATxCGG COVERED 1527 0.6991758241758241 170 0.34552845528455284 294 0.8121546961325967 472 0.8251748251748252 591 0.7796833773087071 C 18.82 3.704827 0.68615 0.384249 0.767791 ENSG00000198924 ENST00000361384;ENST00000369305 T;T 0.67865 -0.29;-0.29 6.02 4.13 0.48395 . 0.857054 0.10601 N 0.655643 T 0.00012 0.0000 L 0.57536 1.79 0.38063 P 0.06387799999999999 D 0.63880 0.993 P 0.53185 0.72 T 0.28839 -1.0031 9 0.52906 T 0.07 -4.0187 10.1303 0.42674 0.1343:0.7966:0.0:0.0691 rs3750898;rs17235101;rs17855758;rs52822954;rs60893685;rs3750898 317 Q6PJP8 DCR1A_HUMAN H 317 ENSP00000355185:D317H;ENSP00000358311:D317H ENSP00000355185:D317H D - 1 0 DCLRE1A 115599905 0.100000 0.21855 0.996000 0.52242 0.710000 0.40934 0.905000 0.28504 1.517000 0.48917 0.650000 0.86243 GAT NOVEL DCLRE1A-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050444.1 1 23.048422 KEEP 0 2 76 103 3623 CC 1 1 0 - 11 60 436 0 0 27.434907 353 60 13144 572 ENST00000361384.2 0.03022 1 DCLRE1A 9937 __UNKNOWN__ __UNKNOWN__ 10 115613611 115613611 __UNKNOWN__ 5'UTR SNP A A G rs3829213 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:115613611A>G ENST00000361384.2 - 0 248 DCLRE1A_ENST00000369305.1_Intron|DCLRE1A_ENST00000476112.1_Intron NM_014881.3 NP_055696.3 Q6PJP8 DCR1A_HUMAN DNA cross-link repair 1A NA NA mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289) nucleus (GO:0005634) breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1) 31 Epithelial(162;0.0157)|all cancers(201;0.0171) CAATCCCTGCACAGTGAACAA 0.463 NA Other identified genes with known or suspected DNA repair function A||| 3331 0.665136 0.3389 0.817 5008 , , NA 19685 0.8175 NA 0.7922 False NA ,,, NA NA NA 2504 0.7106 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant CCDS7584.1 10q25.1 2010-06-24 2010-06-24 ENSG00000198924 ENSG00000198924 9937 17660 protein-coding gene gene with protein product PSO2 homolog (S. cerevisiae) 609682 DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae) NA 9806498, 17804464 Standard NM_014881 NM_014881 NA Approved SNM1, PSO2, KIAA0086, hSNM1 uc031pxf.1 Q6PJP8 OTTHUMG00000019077 ENST00000361384.2:c.-670T>C chr10.hg19:g.115613611A>G NA D3DRC1|Q14701|Q6P5Y3|Q6PKL4 hg19 CCDS7584.1 0.02 5.736482 TGCxCAG COVERED NOVEL DCLRE1A-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050444.1 0 26.674275 KEEP 0 3 110 127 3830 AA 1 1 0 - 7 60 252 0 0 15.415829 190 60 6802 404 ENST00000361384.2 0.035533 1 NHLRC2 374354 __UNKNOWN__ __UNKNOWN__ 10 115675025 115675025 __UNKNOWN__ 3'UTR SNP G G A rs7895609 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:115675025G>A ENST00000369301.3 + 0 9123 AL162407.1_ENST00000451472.1_Silent_p.L114L NM_198514.3 NP_940916.2 Q8NBF2 NHLC2_HUMAN NHL repeat containing 2 NA NA breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 15 Epithelial(162;0.017)|all cancers(201;0.0187) TTCCCTACCTGTACAAGCAGC 0.378 NA A||| 3737 0.746206 0.6596 0.8429 5008 , , NA 20566 0.8155 NA 0.7644 False NA ,,, NA NA NA 2504 0.7045 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK090631 CCDS7585.1 10q26.11 2006-03-31 ENSG00000196865 ENSG00000196865 374354 24731 protein-coding gene gene with protein product NA 12477932 Standard NM_198514 NM_198514 NA Approved FLJ25621, FLJ20147, FLJ33312, MGC45492, DKFZp779F115 uc001lax.2 Q8NBF2 OTTHUMG00000019078 ENST00000369301.3:c.*6730G>A chr10.hg19:g.115675025G>A NA Q8N1H1|Q8N5A6 hg19 CCDS7585.1 0.02 32.210189 CCTxTAC COVERED NOVEL NHLRC2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050446.1 5 8.668821 KEEP 0 4 129 74 2635 GG 1 1 0 + 31 60 1129 0 0 70.785188 768 60 29000 1001 ENST00000369301.3 0.038798 1 ABLIM1 3983 __UNKNOWN__ __UNKNOWN__ 10 116192626 116192626 __UNKNOWN__ 3'UTR SNP T T C rs3750820 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:116192626T>C ENST00000392952.3 - 0 5086 ABLIM1_ENST00000369266.3_3'UTR|ABLIM1_ENST00000369252.4_3'UTR|ABLIM1_ENST00000533213.2_3'UTR NM_006720.3 NP_006711.3 O14639 ABLM1_HUMAN actin binding LIM protein 1 NA NA axon guidance (GO:0007411)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601) actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725) actin binding (GO:0003779)|zinc ion binding (GO:0008270) breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 30 Colorectal(252;0.0373)|Breast(234;0.231) Epithelial(162;0.0132)|all cancers(201;0.0383) GTGAAGTTATTGAACACGTCA 0.353 NA C||| 1469 0.293331 0.41 0.1902 5008 , , NA 20751 0.506 NA 0.1223 False NA ,,, NA NA NA 2504 0.1656 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF005654 CCDS7590.1, CCDS31289.1 10q25 2008-07-07 2002-09-13 ENSG00000099204 ENSG00000099204 3983 78 protein-coding gene gene with protein product 602330 LIMAB1, ABLIM NA 9245787 Standard NM_002313 NA Approved abLIM, limatin uc021pyw.1 O14639 OTTHUMG00000019088 ENST00000392952.3:c.*3393A>G chr10.hg19:g.116192626T>C NA A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1 hg19 CCDS31289.1 0.02 3.860122 TATxGAA COVERED NOVEL ABLIM1-009 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000050477.2 1 8.422595 KEEP 0 0 0 28 832 TT 0.999997 0.999997 0 - 5 60 175 0 0 10.373541 145 60 5281 206 ENST00000392952.3 0.033333 1 ABLIM1 3983 __UNKNOWN__ __UNKNOWN__ 10 116307504 116307504 __UNKNOWN__ Silent SNP A A G rs2247528 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:116307504A>G ENST00000277895.5 - 5 802 c.705T>C c.(703-705)aaT>aaC p.N235N ABLIM1_ENST00000369252.4_Silent_p.N175N|ABLIM1_ENST00000533213.2_Silent_p.N175N NM_002313.5 NP_002304.3 O14639 ABLM1_HUMAN actin binding LIM protein 1 235 LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}. NA axon guidance (GO:0007411)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601) actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725) actin binding (GO:0003779)|zinc ion binding (GO:0008270) breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 30 Colorectal(252;0.0373)|Breast(234;0.231) Epithelial(162;0.0132)|all cancers(201;0.0383) GCGCCTGCCCATTCTTGATAT 0.527 NA A||| 3922 0.783147 0.9584 0.745 5008 , , NA 16735 0.6706 NA 0.7356 False NA ,,, NA NA NA 2504 0.7382 NA NA NA NA 0 A ,, 4033,373 791.6+/-415.1 1848,337,18 41 39 40 525,525,705 -3.6 1 10 dbSNP_100 40 6265,2335 702.8+/-405.3 2282,1701,317 yes coding-synonymous,coding-synonymous,coding-synonymous ABLIM1 NM_001003407.1,NM_001003408.1,NM_002313.5 ,, 4130,2038,335 GG,GA,AA 27.1512,8.4657,20.8212 ,, 175/719,175/747,235/779 116307504 10298,2708 2203 4300 6503 SO:0001819 synonymous_variant AF005654 CCDS7590.1, CCDS31289.1 10q25 2008-07-07 2002-09-13 ENSG00000099204 ENSG00000099204 3983 78 protein-coding gene gene with protein product 602330 LIMAB1, ABLIM NA 9245787 Standard NM_002313 NA Approved abLIM, limatin uc021pyw.1 O14639 OTTHUMG00000019088 ENST00000277895.5:c.705T>C chr10.hg19:g.116307504A>G NA A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1 hg19 CCDS7590.1 0.02 6.199115 CCCxTTC COVERED 1664 0.7619047619047619 476 0.967479674796748 253 0.6988950276243094 383 0.6695804195804196 552 0.7282321899736148 A 10.43 1.349333 0.24426 0.915343 0.728488 ENSG00000099204 ENST00000392955 . . . 5.66 -3.56 0.04626 . . . . . T 0.00012 0.0000 . . . 0.09310 P 1.0 . . . . . . T 0.25082 -1.0142 3 . . . . 8.9444 0.35749 0.6429:0.0:0.2511:0.106 rs2247528;rs17258998;rs61693979;rs2247528 . . . T 144 . . M - 2 0 ABLIM1 116297494 0.280000 0.24249 0.979000 0.43373 0.962000 0.63368 -0.189000 0.09629 -0.497000 0.06641 -0.408000 0.06270 ATG NOVEL ABLIM1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050469.3 2 19.426933 KEEP 0 2 70 89 2738 AA 1 1 0 - 7 60 246 0 0 15.328653 160 60 5825 321 ENST00000277895.5 0.041916 1 FAM160B1 57700 __UNKNOWN__ __UNKNOWN__ 10 116659253 116659253 __UNKNOWN__ Missense_Mutation SNP A A G rs386747879|rs10885629 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:116659253A>G ENST00000369250.3 + 17 2532 c.2197A>G c.(2197-2199)Acg>Gcg p.T733A NM_001135051.1 NP_001128523.1 Q5W0V3 F16B1_HUMAN family with sequence similarity 160, member B1 0 NA p.T733A(2) NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13) 25 cctcaggcagacgttgccttc 0.443 NA G||| 2846 0.568291 0.8517 0.5807 5008 , , NA 17723 0.2798 NA 0.5388 False NA ,,, NA NA NA 2504 0.5041 NA NA NA NA 2 Substitution - Missense(2) stomach(1)|kidney(1) G ALA/THR 1117,267 455,207,30 298 258 270 2197 0.6 0 10 dbSNP_120 270 1789,1393 499,791,301 yes missense FAM160B1 NM_001135051.1 58 954,998,331 GG,GA,AA 43.7775,19.2919,36.3557 733/739 116659253 2906,1660 692 1591 2283 SO:0001583 missense AB046820 CCDS31290.1, CCDS44480.1 10q26.11 2008-06-05 2008-06-05 2008-06-05 ENSG00000151553 ENSG00000151553 57700 29320 protein-coding gene gene with protein product KIAA1600 KIAA1600 NA 10997877 Standard XM_049351 NM_020940 NA Approved bA106M7.3 uc001lcb.3 Q5W0V3 OTTHUMG00000019092 ENST00000369250.3:c.2197A>G chr10.hg19:g.116659253A>G ENSP00000358253:p.Thr733Ala NA Q5H9P7|Q5W0V2|Q8IY76|Q9HCH2 hg19 CCDS44480.1 0.02 21.333266 CAGxCGT COVERED 1191 0.5453296703296703 408 0.8292682926829268 212 0.585635359116022 173 0.30244755244755245 398 0.525065963060686 G 1.387 -0.581827 0.03827 0.807081 0.562225 ENSG00000151553 ENST00000369250 T 0.13307 2.6 1.62 0.647 0.17796 . . . . . T 0.00012 0.0000 N 0.08118 0 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.06250 -1.0837 8 0.51188 T 0.08 . 2.2804 0.04112 0.1938:0.0:0.5086:0.2976 rs10885629;rs56776356;rs10885629 733 Q5W0V3-2 . A 733 ENSP00000358253:T733A ENSP00000358253:T733A T + 1 0 FAM160B1 116649243 0.001000 0.12720 0.000000 0.03702 0.000000 0.00434 0.004000 0.13106 -0.116000 0.11893 -1.117000 0.02048 ACG NOVEL FAM160B1-002 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000050500.1 1 23.770999 KEEP 0 0 0 79 2490 AA 1 1 0 + 15 60 552 0 0 32.733414 515 60 18232 719 ENST00000369250.3 0.028302 1 ATRNL1 26033 __UNKNOWN__ __UNKNOWN__ 10 117707368 117707368 __UNKNOWN__ 3'UTR SNP T T C rs41284364 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:117707368T>C ENST00000355044.3 + 0 7344 NM_207303.2 NP_997186.1 Q5VV63 ATRN1_HUMAN attractin-like 1 NA NA G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275) integral component of membrane (GO:0016021) carbohydrate binding (GO:0030246)|receptor activity (GO:0004872) NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) agcctcagccttccatctgta 0.542 NA T||| 546 0.109026 0.0151 0.1268 5008 , , NA 17323 0.0506 NA 0.2167 False NA ,,, NA NA NA 2504 0.1728 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB011106 CCDS7592.1, CCDS73204.1 10q26 2004-03-04 ENSG00000107518 ENSG00000107518 26033 29063 protein-coding gene gene with protein product 612869 NA 9628581 Standard XM_049349 NM_001276282 NA Approved KIAA0534, FLJ45344, ALP uc001lcg.3 Q5VV63 OTTHUMG00000019096 ENST00000355044.3:c.*3078T>C chr10.hg19:g.117707368T>C NA O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2 hg19 CCDS7592.1 0.02 6.533561 GCCxTCC COVERED NOVEL ATRNL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050507.3 2 13.236913 KEEP 0 0 0 44 1332 TT 1 1 0 + 9 60 332 0 0 22.37838 154 60 5635 239 ENST00000355044.3 0.055215 1 GFRA1 2674 __UNKNOWN__ __UNKNOWN__ 10 117823204 117823204 __UNKNOWN__ 3'UTR SNP T T C rs2072277 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:117823204T>C ENST00000369236.1 - 0 2340 GFRA1_ENST00000439649.3_3'UTR NM_145793.3 NP_665736.1 P56159 GFRA1_HUMAN GDNF family receptor alpha 1 NA NA axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860) anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886) glial cell-derived neurotrophic factor receptor activity (GO:0016167)|receptor binding (GO:0005102) endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1) 26 Lung NSC(174;0.21) all cancers(201;0.0337) ATTGAGGTATTGAATCGGCAC 0.408 NA T||| 1146 0.228834 0.2254 0.2061 5008 , , NA 18887 0.4673 NA 0.0716 False NA ,,, NA NA NA 2504 0.1656 NA NA NA Ovarian(128;329 1725 45498 46808 50759) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF038421 CCDS7593.1, CCDS44481.1 10q25-q26 2011-01-25 ENSG00000151892 ENSG00000151892 2674 4243 protein-coding gene gene with protein product 601496 GDNFRA NA 9465905, 9545641 Standard NM_145793 NM_005264 NA Approved RETL1, GDNFR, GFR-ALPHA-1, RET1L, TRNR1 uc001lcj.3 P56159 OTTHUMG00000019097 ENST00000369236.1:c.*705A>G chr10.hg19:g.117823204T>C NA A8KA21|O15507|O43912 hg19 CCDS7593.1 0.02 14.224477 TATxGAA COVERED NOVEL GFRA1-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000050511.1 2 8.425812 KEEP 0 0 0 28 896 TT 0.999997 0.999997 0 - 15 60 523 0 0 33.803924 293 60 10880 394 ENST00000369236.1 0.048701 1 PNLIPRP1 5407 __UNKNOWN__ __UNKNOWN__ 10 118368493 118368493 __UNKNOWN__ Intron SNP C C A rs5003367|rs561193763|rs563750758|rs201976882 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:118368493C>A ENST00000528052.1 + 13 1411 PNLIPRP1_ENST00000358834.4_Intron|PNLIPRP1_ENST00000534537.1_Intron P54315 LIPR1_HUMAN pancreatic lipase-related protein 1 NA NA lipid metabolic process (GO:0006629) extracellular region (GO:0005576) calcium ion binding (GO:0005509)|triglyceride lipase activity (GO:0004806) breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 38 all cancers(201;0.0161) ccaaaccaaaccaaaacaaaa 0.478 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC025784 CCDS7595.1 10q26.12 2006-07-04 ENSG00000187021 ENSG00000187021 5407 9156 protein-coding gene gene with protein product 604422 NA 1379598 Standard NM_006229 NM_006229 NA Approved PLRP1 uc001lco.1 P54315 OTTHUMG00000019109 ENST00000528052.1:c.1341-72C>A chr10.hg19:g.118368493C>A NA Q68D83|Q68DR6|Q8TAU2|Q9BS82 hg19 CCDS7595.1 0.02 5.534075 AAAxCAA COVERED NOVEL PNLIPRP1-011 KNOWN alternative_5_UTR|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000384633.1 0 3.949085 KEEP 0 1 37 26 906 CC 0.999988 0.999988 0 + 8 60 276 0 0 17.116491 177 60 6535 244 ENST00000528052.1 0.043243 1 VAX1 11023 __UNKNOWN__ __UNKNOWN__ 10 118890693 118890693 __UNKNOWN__ 3'UTR SNP G G A rs10787760 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:118890693G>A ENST00000277905.2 - 0 1832 NM_199131.2 NP_954582.1 Q5SQQ9 VAX1_HUMAN ventral anterior homeobox 1 NA NA axon guidance (GO:0007411)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|palate development (GO:0060021)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) chromatin DNA binding (GO:0031490)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) endometrium(1)|large_intestine(1)|lung(8)|ovary(2) 12 all cancers(201;0.0108) GAAGGAAGAAGTAATGGAGGA 0.562 NA G||| 2289 0.457069 0.2746 0.5692 5008 , , NA 16170 0.2887 NA 0.6938 False NA ,,, NA NA NA 2504 0.5542 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK127095 CCDS7597.1, CCDS44483.1 10q26.11 2011-06-20 ENSG00000148704 ENSG00000148704 11023 Homeoboxes / ANTP class : NKL subclass 12660 protein-coding gene gene with protein product 604294 NA 9636075, 10485894 Standard XM_301242 NM_199131 NA Approved uc009xyx.3 Q5SQQ9 OTTHUMG00000019117 ENST00000277905.2:c.*1027C>T chr10.hg19:g.118890693G>A NA B1AVW5|Q6ZSX0 hg19 CCDS7597.1 0.02 4.42927 GAAxTAA COVERED NOVEL VAX1-002 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000280394.1 0 5.41723 KEEP 0 0 0 18 635 GG 0.999859 0.999859 0 - 6 60 227 0 0 14.771592 136 60 5082 186 ENST00000277905.2 0.042254 1 SLC18A2 6571 __UNKNOWN__ __UNKNOWN__ 10 119013632 119013632 __UNKNOWN__ Silent SNP C C T rs363411 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:119013632C>T ENST00000298472.5 + 5 740 c.597C>T c.(595-597)tcC>tcT p.S199S SLC18A2_ENST00000497497.1_3'UTR NM_003054.4 NP_003045.2 Q05940 VMAT2_HUMAN solute carrier family 18 (vesicular monoamine transporter), member 2 199 NA aging (GO:0007568)|cellular response to ammonium ion (GO:0071242)|cellular response to drug (GO:0035690)|death (GO:0016265)|dopamine transport (GO:0015872)|endocytic recycling (GO:0032456)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|negative regulation of neurotransmitter transport (GO:0051589)|neurotransmitter loading into synaptic vesicle (GO:0098700)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to corticosterone (GO:0051412)|response to herbicide (GO:0009635)|response to starvation (GO:0042594)|response to zinc ion (GO:0010043)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085) clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)|terminal bouton (GO:0043195) amine transmembrane transporter activity (GO:0005275)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)|serotonin transmembrane transporter activity (GO:0015222) NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16) 29 Colorectal(252;0.19) all cancers(201;0.029) Amphetamine(DB00182)|Benzphetamine(DB00865)|Deserpidine(DB01089)|Dextroamphetamine(DB01576)|Ephedra(DB01363)|Ephedrine(DB01364)|Isometheptene(DB06706)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Propylhexedrine(DB06714)|Reserpine(DB00206)|Tetrabenazine(DB04844) CGTCCTGCTCCTCTGTGGCTG 0.592 NA C||| 230 0.0459265 0.0257 0.0346 5008 , , NA 13530 0.1319 NA 0.0119 False NA ,,, NA NA NA 2504 0.0276 NA NA NA NA 0 C 119,4287 75.7+/-113.9 2,115,2086 95 85 88 597 -12.1 0.2 10 dbSNP_79 88 111,8489 48.9+/-108.6 3,105,4192 no coding-synonymous SLC18A2 NM_003054.4 5,220,6278 TT,TC,CC 1.2907,2.7009,1.7684 199/515 119013632 230,12776 2203 4300 6503 SO:0001819 synonymous_variant L14269 CCDS7599.1 10q25 2013-07-18 2013-07-18 ENSG00000165646 ENSG00000165646 6571 Solute carriers 10935 protein-coding gene gene with protein product 193001 VMAT2 NA Standard NM_003054 NM_003054 NA Approved SVMT, SVAT uc001ldd.2 Q05940 OTTHUMG00000019121 ENST00000298472.5:c.597C>T chr10.hg19:g.119013632C>T NA B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6 hg19 CCDS7599.1 0.02 6.59853 CTCxTCT COVERED NOVEL SLC18A2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050563.1 3 15.049348 KEEP 0 0 0 50 1802 CC 1 1 0 + 6 60 223 0 0 14.038558 155 60 5907 345 ENST00000298472.5 0.037267 1 SLC18A2 6571 __UNKNOWN__ __UNKNOWN__ 10 119038759 119038759 __UNKNOWN__ 3'UTR SNP C C A rs363238 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:119038759C>A ENST00000298472.5 + 0 3670 SLC18A2_ENST00000497497.1_3'UTR NM_003054.4 NP_003045.2 Q05940 VMAT2_HUMAN solute carrier family 18 (vesicular monoamine transporter), member 2 NA NA aging (GO:0007568)|cellular response to ammonium ion (GO:0071242)|cellular response to drug (GO:0035690)|death (GO:0016265)|dopamine transport (GO:0015872)|endocytic recycling (GO:0032456)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|negative regulation of neurotransmitter transport (GO:0051589)|neurotransmitter loading into synaptic vesicle (GO:0098700)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to corticosterone (GO:0051412)|response to herbicide (GO:0009635)|response to starvation (GO:0042594)|response to zinc ion (GO:0010043)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085) clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)|terminal bouton (GO:0043195) amine transmembrane transporter activity (GO:0005275)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)|serotonin transmembrane transporter activity (GO:0015222) NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16) 29 Colorectal(252;0.19) all cancers(201;0.029) Amphetamine(DB00182)|Benzphetamine(DB00865)|Deserpidine(DB01089)|Dextroamphetamine(DB01576)|Ephedra(DB01363)|Ephedrine(DB01364)|Isometheptene(DB06706)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Propylhexedrine(DB06714)|Reserpine(DB00206)|Tetrabenazine(DB04844) ATGTACATACCAGAACAAAGA 0.313 NA C||| 1111 0.221845 0.1475 0.2003 5008 , , NA 16267 0.4028 NA 0.1173 False NA ,,, NA NA NA 2504 0.2587 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L14269 CCDS7599.1 10q25 2013-07-18 2013-07-18 ENSG00000165646 ENSG00000165646 6571 Solute carriers 10935 protein-coding gene gene with protein product 193001 VMAT2 NA Standard NM_003054 NM_003054 NA Approved SVMT, SVAT uc001ldd.2 Q05940 OTTHUMG00000019121 ENST00000298472.5:c.*1982C>A chr10.hg19:g.119038759C>A NA B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6 hg19 CCDS7599.1 0.02 6.287067 TACxAGA COVERED NOVEL SLC18A2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050563.1 0 11.436923 KEEP 0 0 0 38 1322 CC 1 1 0 + 6 60 219 0 0 13.705767 151 60 5609 231 ENST00000298472.5 0.038217 1 PDZD8 118987 __UNKNOWN__ __UNKNOWN__ 10 119133968 119133968 __UNKNOWN__ Silent SNP G G C rs3814230 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:119133968G>C ENST00000334464.5 - 1 1010 c.771C>G c.(769-771)tcC>tcG p.S257S NM_173791.3 NP_776152.1 Q8NEN9 PDZD8_HUMAN PDZ domain containing 8 257 NA cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|regulation of cell morphogenesis (GO:0022604)|viral process (GO:0016032) membrane (GO:0016020) metal ion binding (GO:0046872) kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3) 38 Colorectal(252;0.19) all cancers(201;0.0121) CTTCAAACTGGGAGCGCACCT 0.577 NA G||| 1548 0.309105 0.3782 0.2392 5008 , , NA 18250 0.4415 NA 0.1501 False NA ,,, NA NA NA 2504 0.2924 NA NA NA NA 0 G 1491,2915 475.5+/-357.3 242,1007,954 59 62 61 771 -1.7 1 10 dbSNP_107 61 1330,7270 261.2+/-283.7 101,1128,3071 no coding-synonymous PDZD8 NM_173791.3 343,2135,4025 CC,CG,GG 15.4651,33.8402,21.69 257/1155 119133968 2821,10185 2203 4300 6503 SO:0001819 synonymous_variant AL122051 CCDS7600.1 10q26.12 2006-01-24 2006-01-24 ENSG00000165650 ENSG00000165650 118987 26974 protein-coding gene gene with protein product 614235 PDZK8 NA 12477932 Standard NM_173791 NM_173791 NA Approved bA129M16.2, FLJ34427 uc001lde.1 Q8NEN9 OTTHUMG00000019122 ENST00000334464.5:c.771C>G chr10.hg19:g.119133968G>C NA Q86WE0|Q86WE5|Q9UFF1 hg19 CCDS7600.1 0.02 16.118433 CTGxGAG COVERED NOVEL PDZD8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050565.1 0 47.25336 KEEP 0 0 0 157 5574 GG 1 1 0 - 13 60 489 0 0 30.934114 340 60 12662 660 ENST00000334464.5 0.036827 1 PDZD8 118987 __UNKNOWN__ __UNKNOWN__ 10 119134058 119134058 __UNKNOWN__ Silent SNP T T C rs3814229 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:119134058T>C ENST00000334464.5 - 1 920 c.681A>G c.(679-681)ggA>ggG p.G227G NM_173791.3 NP_776152.1 Q8NEN9 PDZD8_HUMAN PDZ domain containing 8 227 NA cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|regulation of cell morphogenesis (GO:0022604)|viral process (GO:0016032) membrane (GO:0016020) metal ion binding (GO:0046872) kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3) 38 Colorectal(252;0.19) all cancers(201;0.0121) AGCGCAGCCTTCCCACCACGC 0.607 NA C||| 1549 0.309305 0.3782 0.2392 5008 , , NA 17465 0.4415 NA 0.1511 False NA ,,, NA NA NA 2504 0.2924 NA NA NA NA 0 C 1472,2934 237,998,968 58 46 50 681 -5.2 0.1 10 dbSNP_107 50 1314,7286 103,1108,3089 no coding-synonymous PDZD8 NM_173791.3 340,2106,4057 CC,CT,TT 15.2791,33.409,21.4209 227/1155 119134058 2786,10220 2203 4300 6503 SO:0001819 synonymous_variant AL122051 CCDS7600.1 10q26.12 2006-01-24 2006-01-24 ENSG00000165650 ENSG00000165650 118987 26974 protein-coding gene gene with protein product 614235 PDZK8 NA 12477932 Standard NM_173791 NM_173791 NA Approved bA129M16.2, FLJ34427 uc001lde.1 Q8NEN9 OTTHUMG00000019122 ENST00000334464.5:c.681A>G chr10.hg19:g.119134058T>C NA Q86WE0|Q86WE5|Q9UFF1 hg19 CCDS7600.1 0.02 13.446908 CCTxCCC COVERED NOVEL PDZD8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050565.1 4 49.942732 KEEP 0 0 0 166 5068 TT 1 1 0 - 13 60 486 0 0 31.25306 304 60 10644 597 ENST00000334464.5 0.041009 1 EMX2 2018 __UNKNOWN__ __UNKNOWN__ 10 119307524 119307524 __UNKNOWN__ Intron SNP T T A rs2240776 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:119307524T>A ENST00000553456.3 + 3 1415 EMX2_ENST00000442245.4_Intron|EMX2_ENST00000546446.1_Intron NM_004098.3 NP_004089.1 Q04743 EMX2_HUMAN empty spiracles homeobox 2 NA NA anterior/posterior pattern specification (GO:0009952)|cell proliferation in forebrain (GO:0021846)|cerebral cortex regionalization (GO:0021796)|dentate gyrus development (GO:0021542)|forebrain cell migration (GO:0021885)|neuron differentiation (GO:0030182)|regulation of transcription, DNA-templated (GO:0006355)|renal system development (GO:0072001)|response to drug (GO:0042493) nucleus (GO:0005634) sequence-specific DNA binding (GO:0043565) endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2) 12 Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22) all cancers(201;0.0133) AGGCACTTGATAGAAGGGTGC 0.532 NA T||| 2294 0.458067 0.2474 0.5591 5008 , , NA 17566 0.5417 NA 0.6153 False NA ,,, NA NA NA 2504 0.4233 NA NA NA NA 0 T , 526,1222 93,340,441 10 9 10 , -3.5 0 10 dbSNP_98 10 2480,1494 805,870,312 no intron,intron EMX2 NM_001165924.1,NM_004098.3 , 898,1210,753 AA,AT,TT 37.5944,30.0915,47.4659 , , 119307524 3006,2716 874 1987 2861 SO:0001627 intron_variant AF301598 CCDS7601.1, CCDS53583.1 10q26.11 2011-06-20 2007-02-15 ENSG00000170370 ENSG00000170370 2018 Homeoboxes / ANTP class : NKL subclass 3341 protein-coding gene gene with protein product 600035 empty spiracles homolog 2 (Drosophila) NA 7959790 Standard NM_004098 NM_004098 NA Approved uc001ldh.4 Q04743 OTTHUMG00000019123 ENST00000553456.3:c.592-52T>A chr10.hg19:g.119307524T>A NA G3V305|Q96NN8|Q9BQF4 hg19 CCDS7601.1 0.02 1.707817 TGAxAGA COVERED NOVEL EMX2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050569.4 1 2.238764 KEEP 0 1 30 18 524 TT 0.99986 0.999664 0 + 11 60 373 0 0 28.097768 78 60 2711 110 ENST00000553456.3 0.123596 0.999804 NANOS1 340719 __UNKNOWN__ __UNKNOWN__ 10 120790731 120790731 __UNKNOWN__ 3'UTR SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:120790731C>T ENST00000425699.1 + 0 1504 NM_199461.2 NP_955631.1 Q8WY41 NANO1_HUMAN nanos homolog 1 (Drosophila) NA NA cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148) cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471) RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270) lung(1) 1 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0193) GTGAAGCAAGCCGCTGGTAGC 0.388 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF275269 CCDS7607.1 10q26.13 2003-12-01 ENSG00000188613 ENSG00000188613 340719 23044 protein-coding gene gene with protein product 608226 NA 12690449 Standard NM_199461 NA Approved NOS1 uc009xzf.1 Q8WY41 OTTHUMG00000019141 ENST00000425699.1:c.*539C>T chr10.hg19:g.120790731C>T NA hg19 CCDS7607.1 0.02 1.772106 AAGxCGC COVERED NOVEL NANOS1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000110794.1 2 11.136211 KEEP 0 0 0 37 1295 CC 1 0.999894 0 + 4 60 141 0 0 8.847514 89 60 3300 145 ENST00000425699.1 0.043011 0.999895 EIF3A 8661 __UNKNOWN__ __UNKNOWN__ 10 120802242 120802242 __UNKNOWN__ Silent SNP A A G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:120802242A>G ENST00000369144.3 - 19 2917 c.2790T>C c.(2788-2790)caT>caC p.H930H EIF3A_ENST00000541549.1_Silent_p.H896H NM_003750.2 NP_003741.1 P56537 IF6_HUMAN eukaryotic translation initiation factor 3, subunit A 0 NA mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634) ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743) endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3) 56 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0236) CATCTCTTCTATGAGACCTGT 0.488 NA NA NA NA NA NA NA NA NA NA NA 0 124 132 129 NA NA 10 NA 120802242 2203 4300 6503 SO:0001819 synonymous_variant U78311 CCDS7608.1 10q26.11 2007-08-03 2007-07-27 2007-07-27 ENSG00000107581 ENSG00000107581 8661 3271 protein-coding gene gene with protein product 602039 eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa EIF3, EIF3S10 NA 9054404, 8590280 Standard NM_003750 NM_003750 NA Approved eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32 uc001ldu.3 Q14152 OTTHUMG00000019144 ENST00000369144.3:c.2790T>C chr10.hg19:g.120802242A>G NA B7ZBG9|Q6IBN8|Q96TD5 hg19 CCDS7608.1 0.02 12.458666 TCTxTGA COVERED NOVEL EIF3A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050634.1 2 24.672434 KEEP 0 0 0 82 2518 AA 1 1 0 - 15 60 572 0 0 38.639131 279 60 10092 498 ENST00000369144.3 0.05102 1 GRK5 2869 __UNKNOWN__ __UNKNOWN__ 10 121156139 121156139 __UNKNOWN__ Intron SNP G G C rs3781495 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:121156139G>C ENST00000392870.2 + 4 590 GRK5_ENST00000369108.3_Intron NM_005308.2 NP_005299.1 P34947 GRK5_HUMAN G protein-coupled receptor kinase 5 NA NA adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055) cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|phospholipid binding (GO:0005543)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674) endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1) 27 Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249) all cancers(201;0.0227) caggggctgtgaggttctgta 0.502 NA G||| 342 0.0682907 0.0219 0.1081 5008 , , NA 17723 0.1687 NA 0.0109 False NA ,,, NA NA NA 2504 0.0583 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L15388 CCDS7612.1 10q26.11 2013-09-19 2004-02-04 2004-02-06 ENSG00000198873 ENSG00000198873 2869 4544 protein-coding gene gene with protein product 600870 GPRK5 NA 7685906 Standard NM_005308 NM_005308 NA Approved uc001led.3 P34947 OTTHUMG00000019149 ENST00000392870.2:c.262-68G>C chr10.hg19:g.121156139G>C NA D3DRD0|Q5T059 hg19 CCDS7612.1 0.02 2.373213 TGTxAGG COVERED NOVEL GRK5-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050652.2 2 6.922492 KEEP 0 0 0 23 812 GG 0.999892 0.996616 0 + 5 60 188 0 0 13.364541 65 60 2491 117 ENST00000392870.2 0.071429 0.996724 GRK5 2869 __UNKNOWN__ __UNKNOWN__ 10 121201616 121201616 __UNKNOWN__ Intron SNP C C T rs2275043 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:121201616C>T ENST00000392870.2 + 11 1386 GRK5_ENST00000369108.3_Intron NM_005308.2 NP_005299.1 P34947 GRK5_HUMAN G protein-coupled receptor kinase 5 NA NA adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055) cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|phospholipid binding (GO:0005543)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674) endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1) 27 Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249) all cancers(201;0.0227) TGCTGGGCTGCCTGTGTCAAT 0.637 NA c||| 1105 0.220647 0.3548 0.2839 5008 , , NA 14836 0.1538 NA 0.159 False NA ,,, NA NA NA 2504 0.1268 NA NA NA NA 0 C 1277,3129 431.8+/-343.0 180,917,1106 73 67 69 -2.6 0 10 dbSNP_100 69 1167,7433 238.2+/-269.8 78,1011,3211 no intron GRK5 NM_005308.2 258,1928,4317 TT,TC,CC 13.5698,28.9832,18.7913 121201616 2444,10562 2203 4300 6503 SO:0001627 intron_variant L15388 CCDS7612.1 10q26.11 2013-09-19 2004-02-04 2004-02-06 ENSG00000198873 ENSG00000198873 2869 4544 protein-coding gene gene with protein product 600870 GPRK5 NA 7685906 Standard NM_005308 NM_005308 NA Approved uc001led.3 P34947 OTTHUMG00000019149 ENST00000392870.2:c.1057+16C>T chr10.hg19:g.121201616C>T NA D3DRD0|Q5T059 hg19 CCDS7612.1 0.02 6.052344 CTGxCTG COVERED NOVEL GRK5-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050652.2 4 47.172479 KEEP 0 0 0 157 5542 CC 1 1 0 + 9 60 326 0 0 21.828252 152 60 5631 420 ENST00000392870.2 0.055901 1 BAG3 9531 __UNKNOWN__ __UNKNOWN__ 10 121436286 121436286 __UNKNOWN__ Missense_Mutation SNP C C T rs3858340 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:121436286C>T ENST00000369085.3 + 4 1526 c.1220C>T c.(1219-1221)cCt>cTt p.P407L NM_004281.3 NP_004272.2 O95817 BAG3_HUMAN BCL2-associated athanogene 3 407 NA P -> L (in dbSNP:rs3858340). {ECO:0000269|PubMed:21459883, ECO:0000269|PubMed:21898660}. brain development (GO:0007420)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|negative regulation of apoptotic process (GO:0043066)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|protein folding (GO:0006457)|protein stabilization (GO:0050821)|spinal cord development (GO:0021510) cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|Z disc (GO:0030018) endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 20 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148) GAAGCTACACCTCCAAAACCA 0.612 NA C||| 779 0.155551 0.1664 0.1744 5008 , , NA 16571 0.253 NA 0.0964 False NA ,,, NA NA NA 2504 0.0879 NA NA NA NA 0 C LEU/PRO 751,3655 303.5+/-288.0 69,613,1521 37 42 40 1220 5.7 0.2 10 dbSNP_108 40 754,7846 178.6+/-228.0 31,692,3577 yes missense BAG3 NM_004281.3 98 100,1305,5098 TT,TC,CC 8.7674,17.0449,11.5716 benign 407/576 121436286 1505,11501 2203 4300 6503 SO:0001583 missense AF095193 CCDS7615.1 10q25.2-q26.2 2014-09-17 ENSG00000151929 ENSG00000151929 9531 939 protein-coding gene gene with protein product 603883 NA 9873016, 18094623 Standard NM_004281 XM_005270287 NA Approved uc001lem.3 O95817 OTTHUMG00000019155 ENST00000369085.3:c.1220C>T chr10.hg19:g.121436286C>T ENSP00000358081:p.Pro407Leu NA A8K5L8|Q3B763|Q9NT20|Q9P120 hg19 CCDS7615.1 0.02 3.778834 CACxTCC COVERED 339 0.15521978021978022 81 0.16463414634146342 48 0.13259668508287292 140 0.24475524475524477 70 0.09234828496042216 C 14.51 2.558206 0.45590 0.170449 0.087674 ENSG00000151929 ENST00000369085 T 0.66460 -0.21 5.73 5.73 0.89815 . 0.658638 0.15124 N 0.279224 T 0.00039 0.0001 L 0.29908 0.895 0.30462 P 0.7742020000000001 B;B 0.27853 0.191;0.191 B;B 0.29267 0.1;0.1 T 0.04708 -1.0932 9 0.54805 T 0.06 -3.1777 20.2602 0.98440 0.0:1.0:0.0:0.0 rs3858340;rs52823187;rs3858340 407;407 O95817;Q53GY1 BAG3_HUMAN;. L 407 ENSP00000358081:P407L ENSP00000358081:P407L P + 2 0 BAG3 121426276 0.206000 0.23470 0.224000 0.23877 0.349000 0.29174 4.449000 0.60034 2.861000 0.98227 0.655000 0.94253 CCT NOVEL BAG3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050662.1 0 15.349161 KEEP 0 0 0 51 1764 CC 1 1 0 + 5 60 177 0 0 10.602978 143 60 5223 234 ENST00000369085.3 0.033784 1 MCMBP 79892 __UNKNOWN__ __UNKNOWN__ 10 121618382 121618382 __UNKNOWN__ Intron SNP T T A rs34469768 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:121618382T>A ENST00000369077.3 - 4 592 MCMBP_ENST00000466047.1_Intron|MCMBP_ENST00000360003.3_Intron Q9BTE3 MCMBP_HUMAN minichromosome maintenance complex binding protein NA NA DNA-dependent DNA replication (GO:0006261)|mitotic nuclear division (GO:0007067)|sister chromatid cohesion (GO:0007062) cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886) chromatin binding (GO:0003682) breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2) 21 TTCATATATATTAAAGATACA 0.259 NA T||| 471 0.0940495 0.0023 0.0274 5008 , , NA 15188 0.1865 NA 0.0537 False NA ,,, NA NA NA 2504 0.2117 NA NA NA NA 0 T 35,4349 0,35,2157 29 31 30 1.2 0 10 dbSNP_126 30 453,8105 10,433,3836 no intron MCMBP NM_024834.2 10,468,5993 AA,AT,TT 5.2933,0.7984,3.7707 121618382 488,12454 2192 4279 6471 SO:0001627 intron_variant BC007219 CCDS7617.1, CCDS58099.1 10q26.13 2013-10-11 2011-01-05 2011-01-05 ENSG00000197771 ENSG00000197771 79892 25782 protein-coding gene gene with protein product 610909 chromosome 10 open reading frame 119 C10orf119 NA 17296731 Standard NM_024834 NM_024834 NA Approved FLJ13081, MCM-BP uc001ler.3 Q9BTE3 OTTHUMG00000019159 ENST00000369077.3:c.327+13A>T chr10.hg19:g.121618382T>A NA B3KSP7|Q6IA56|Q9BVT9|Q9H916 hg19 CCDS58099.1 0.02 -0.368478 ATAxTAA COVERED NOVEL MCMBP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050683.1 0 5.113011 KEEP 0 0 0 17 507 TT 0.999366 0.898744 0 - 3 60 105 0 0 7.239242 39 60 1458 71 ENST00000369077.3 0.071429 0.899314 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 122114726 122114726 __UNKNOWN__ IGR SNP G G A rs556467249 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:122114726G>A NA NA AL353664.1 (230988 upstream) : PPAPDC1A (101739 downstream) NA NA NA TGGCGGTTCCGGCCGAAAGGG 0.438 NA -||| 1 0.000199681 0.0 0.0 5008 , , NA 19750 0.0 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.122114726G>A NA hg19 0.02 2.056708 TCCxGCC UNCOVERED NOVEL 0 0 3.009274 KEEP 22 0 0 10 332 GG 0 0 0 4 60 147 0 0 9.903301 68 60 2374 117 0.055556 0.997553 PPAPDC1A 196051 __UNKNOWN__ __UNKNOWN__ 10 122334561 122334561 __UNKNOWN__ Intron SNP C C T rs4751791 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:122334561C>T ENST00000369073.3 + 6 415 PPAPDC1A_ENST00000398248.1_Intron|PPAPDC1A_ENST00000541332.1_Intron|PPAPDC1A_ENST00000439221.1_Intron|PPAPDC1A_ENST00000398250.1_Intron Q5VZY2 PPC1A_HUMAN phosphatidic acid phosphatase type 2 domain containing 1A NA NA Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phospholipid dephosphorylation (GO:0046839) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) phosphatidate phosphatase activity (GO:0008195) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1) 20 Lung NSC(174;0.1)|all_lung(145;0.132) all cancers(201;0.0117) GTGTGCAAGACGGCAGACGGA 0.552 NA C||| 1481 0.295727 0.2678 0.2795 5008 , , NA 18118 0.3998 NA 0.3827 False NA ,,, NA NA NA 2504 0.1483 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK098668 CCDS41573.1 10q26.13 2008-02-05 2005-07-15 ENSG00000203805 ENSG00000203805 196051 23531 protein-coding gene gene with protein product phosphatidic acid phosphatase type 2 domain containing 1 PPAPDC1 NA Standard XM_113641 XM_005269592 NA Approved uc001lev.1 Q5VZY2 OTTHUMG00000019168 ENST00000369073.3:c.416-82C>T chr10.hg19:g.122334561C>T NA A2RU82|Q08EQ2|Q0IIP2|Q495B4|Q5VZY1 hg19 0.02 2.024752 AGAxGGC COVERED NOVEL PPAPDC1A-001 KNOWN basic protein_coding NA protein_coding OTTHUMT00000050701.1 0 3.008962 KEEP 0 0 0 10 327 CC 0.992708 0.992436 0 + 4 60 153 0 0 10.164796 83 60 3045 104 ENST00000369073.3 0.045977 0.999726 BTBD16 118663 __UNKNOWN__ __UNKNOWN__ 10 124034528 124034528 __UNKNOWN__ Intron SNP G G T rs7096744 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:124034528G>T ENST00000260723.4 + 2 209 BTBD16_ENST00000368994.2_Intron NM_144587.2 NP_653188.2 Q32M84 BTBDG_HUMAN BTB (POZ) domain containing 16 NA NA breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1) 15 all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238) TATGGAAAATGTCACCTTTAC 0.368 NA T||| 2400 0.479233 0.5439 0.4712 5008 , , NA 19372 0.622 NA 0.3748 False NA ,,, NA NA NA 2504 0.3579 NA NA NA NA 0 T 763,621 219,325,148 225 187 199 -6.2 0 10 dbSNP_116 199 1156,2026 221,714,656 yes intron BTBD16 NM_144587.2 440,1039,804 TT,TG,GG 36.3294,44.8699,42.028 124034528 1919,2647 692 1591 2283 SO:0001627 intron_variant AK058088 CCDS31301.1 10q26.13 2013-01-24 2006-07-04 2006-07-04 ENSG00000138152 ENSG00000138152 118663 BTB/POZ domain containing 26340 protein-coding gene gene with protein product chromosome 10 open reading frame 87 C10orf87 NA Standard NM_144587 NM_144587 NA Approved FLJ25359, Em:AC061711.1 uc001lgc.1 Q32M84 OTTHUMG00000019182 ENST00000260723.4:c.-42-27G>T chr10.hg19:g.124034528G>T NA A6NM63|Q4VXL1|Q96LN0 hg19 CCDS31301.1 0.02 24.315882 AATxTCA COVERED NOVEL BTBD16-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000050780.3 2 10.103284 KEEP 0 2 64 56 2006 GG 1 1 0 + 23 60 842 0 0 53.669611 529 60 20266 722 ENST00000260723.4 0.041667 1 BTBD16 118663 __UNKNOWN__ __UNKNOWN__ 10 124034703 124034703 __UNKNOWN__ Intron SNP T T C rs7080859 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:124034703T>C ENST00000260723.4 + 2 269 BTBD16_ENST00000368994.2_Intron NM_144587.2 NP_653188.2 Q32M84 BTBDG_HUMAN BTB (POZ) domain containing 16 NA NA breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1) 15 all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238) GGGGCTGGGTTCTGCACCACC 0.517 NA C||| 2419 0.483027 0.556 0.4726 5008 , , NA 18559 0.624 NA 0.3748 False NA ,,, NA NA NA 2504 0.3579 NA NA NA NA 0 C 775,609 226,323,143 91 74 79 1.3 0 10 dbSNP_116 79 1170,2012 225,720,646 no intron BTBD16 NM_144587.2 451,1043,789 CC,CT,TT 36.7693,44.0029,42.5975 124034703 1945,2621 692 1591 2283 SO:0001627 intron_variant AK058088 CCDS31301.1 10q26.13 2013-01-24 2006-07-04 2006-07-04 ENSG00000138152 ENSG00000138152 118663 BTB/POZ domain containing 26340 protein-coding gene gene with protein product chromosome 10 open reading frame 87 C10orf87 NA Standard NM_144587 NM_144587 NA Approved FLJ25359, Em:AC061711.1 uc001lgc.1 Q32M84 OTTHUMG00000019182 ENST00000260723.4:c.18+89T>C chr10.hg19:g.124034703T>C NA A6NM63|Q4VXL1|Q96LN0 hg19 CCDS31301.1 0.02 13.262698 GGTxCTG COVERED NOVEL BTBD16-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000050780.3 4 7.521496 KEEP 0 0 0 25 785 TT 0.999931 0.999931 0 + 17 60 603 0 0 39.173184 321 60 11418 398 ENST00000260723.4 0.050296 1 BTBD16 118663 __UNKNOWN__ __UNKNOWN__ 10 124043596 124043596 __UNKNOWN__ Intron SNP G G A rs10887119 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:124043596G>A ENST00000260723.4 + 4 492 BTBD16_ENST00000368994.2_Intron NM_144587.2 NP_653188.2 Q32M84 BTBDG_HUMAN BTB (POZ) domain containing 16 NA NA breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1) 15 all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238) ataggtgcccggtaaatattt 0.408 NA G||| 433 0.0864617 0.0053 0.2017 5008 , , NA 18975 0.2183 NA 0.0298 False NA ,,, NA NA NA 2504 0.0368 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK058088 CCDS31301.1 10q26.13 2013-01-24 2006-07-04 2006-07-04 ENSG00000138152 ENSG00000138152 118663 BTB/POZ domain containing 26340 protein-coding gene gene with protein product chromosome 10 open reading frame 87 C10orf87 NA Standard NM_144587 NM_144587 NA Approved FLJ25359, Em:AC061711.1 uc001lgc.1 Q32M84 OTTHUMG00000019182 ENST00000260723.4:c.241+157G>A chr10.hg19:g.124043596G>A NA A6NM63|Q4VXL1|Q96LN0 hg19 CCDS31301.1 0.02 4.588307 CCCxGTA COVERED NOVEL BTBD16-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000050780.3 1 4.213818 KEEP 0 0 0 14 498 GG 0.995343 0.995342 0 + 5 60 193 0 0 12.590899 119 60 4143 151 ENST00000260723.4 0.040323 0.999999 BTBD16 118663 __UNKNOWN__ __UNKNOWN__ 10 124066731 124066731 __UNKNOWN__ Silent SNP T T G rs7100442 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:124066731T>G ENST00000260723.4 + 10 1070 c.819T>G c.(817-819)ctT>ctG p.L273L BTBD16_ENST00000368994.2_Silent_p.L274L NM_144587.2 NP_653188.2 Q32M84 BTBDG_HUMAN BTB (POZ) domain containing 16 273 NA breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1) 15 all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238) AATTCCATCTTCTGAAAACAA 0.348 NA T||| 648 0.129393 0.1263 0.2118 5008 , , NA 20692 0.248 NA 0.0338 False NA ,,, NA NA NA 2504 0.0511 NA NA NA NA 0 T 556,3850 247.5+/-255.7 41,474,1688 116 118 117 819 -1.2 0.9 10 dbSNP_116 117 247,8353 97.7+/-159.3 4,239,4057 no coding-synonymous BTBD16 NM_144587.2 45,713,5745 GG,GT,TT 2.8721,12.6192,6.1741 273/507 124066731 803,12203 2203 4300 6503 SO:0001819 synonymous_variant AK058088 CCDS31301.1 10q26.13 2013-01-24 2006-07-04 2006-07-04 ENSG00000138152 ENSG00000138152 118663 BTB/POZ domain containing 26340 protein-coding gene gene with protein product chromosome 10 open reading frame 87 C10orf87 NA Standard NM_144587 NM_144587 NA Approved FLJ25359, Em:AC061711.1 uc001lgc.1 Q32M84 OTTHUMG00000019182 ENST00000260723.4:c.819T>G chr10.hg19:g.124066731T>G NA A6NM63|Q4VXL1|Q96LN0 hg19 CCDS31301.1 0.02 10.016051 TCTxCTG COVERED NOVEL BTBD16-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000050780.3 1 33.397983 KEEP 0 0 0 111 3484 TT 1 1 0 + 13 60 496 0 0 34.661248 196 60 7080 391 ENST00000260723.4 0.062201 1 BTBD16 118663 __UNKNOWN__ __UNKNOWN__ 10 124089129 124089129 __UNKNOWN__ Intron SNP G G A rs10887130 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:124089129G>A ENST00000260723.4 + 11 1254 BTBD16_ENST00000368994.2_Intron NM_144587.2 NP_653188.2 Q32M84 BTBDG_HUMAN BTB (POZ) domain containing 16 NA NA breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1) 15 all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238) GAAAGCTGCTGGGCACCTGCC 0.612 NA G||| 449 0.0896565 0.0015 0.196 5008 , , NA 15815 0.2302 NA 0.0278 False NA ,,, NA NA NA 2504 0.0521 NA NA NA NA 0 G 41,4365 39.2+/-71.8 1,39,2163 30 27 28 0.2 0 10 dbSNP_120 28 213,8387 78.9+/-141.6 5,203,4092 no intron BTBD16 NM_144587.2 6,242,6255 AA,AG,GG 2.4767,0.9305,1.9529 124089129 254,12752 2203 4300 6503 SO:0001627 intron_variant AK058088 CCDS31301.1 10q26.13 2013-01-24 2006-07-04 2006-07-04 ENSG00000138152 ENSG00000138152 118663 BTB/POZ domain containing 26340 protein-coding gene gene with protein product chromosome 10 open reading frame 87 C10orf87 NA Standard NM_144587 NM_144587 NA Approved FLJ25359, Em:AC061711.1 uc001lgc.1 Q32M84 OTTHUMG00000019182 ENST00000260723.4:c.1003+43G>A chr10.hg19:g.124089129G>A NA A6NM63|Q4VXL1|Q96LN0 hg19 CCDS31301.1 0.02 2.287551 GCTxGGC COVERED NOVEL BTBD16-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000050780.3 0 2.407411 KEEP 0 0 0 8 270 GG 0.99257 0.97466 0 + 7 60 251 0 0 19.220909 50 60 1806 72 ENST00000260723.4 0.122807 0.981955 BTBD16 118663 __UNKNOWN__ __UNKNOWN__ 10 124094467 124094467 __UNKNOWN__ Silent SNP T T C rs10887135 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:124094467T>C ENST00000260723.4 + 14 1487 c.1236T>C c.(1234-1236)gaT>gaC p.D412D BTBD16_ENST00000495370.2_3'UTR|BTBD16_ENST00000368994.2_Silent_p.D413D NM_144587.2 NP_653188.2 Q32M84 BTBDG_HUMAN BTB (POZ) domain containing 16 412 NA breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1) 15 all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238) TCAAACATGATACTACCTCTT 0.333 NA T||| 458 0.0914537 0.0045 0.1988 5008 , , NA 18668 0.2312 NA 0.0308 False NA ,,, NA NA NA 2504 0.0511 NA NA NA NA 0 T 48,4356 48.9+/-83.8 2,44,2156 114 116 116 1236 -4.5 0 10 dbSNP_120 116 249,8349 98.6+/-160.1 5,239,4055 no coding-synonymous BTBD16 NM_144587.2 7,283,6211 CC,CT,TT 2.896,1.0899,2.2843 412/507 124094467 297,12705 2202 4299 6501 SO:0001819 synonymous_variant AK058088 CCDS31301.1 10q26.13 2013-01-24 2006-07-04 2006-07-04 ENSG00000138152 ENSG00000138152 118663 BTB/POZ domain containing 26340 protein-coding gene gene with protein product chromosome 10 open reading frame 87 C10orf87 NA Standard NM_144587 NM_144587 NA Approved FLJ25359, Em:AC061711.1 uc001lgc.1 Q32M84 OTTHUMG00000019182 ENST00000260723.4:c.1236T>C chr10.hg19:g.124094467T>C NA A6NM63|Q4VXL1|Q96LN0 hg19 CCDS31301.1 0.02 7.022621 TGAxACT COVERED NOVEL BTBD16-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000050780.3 1 7.521656 KEEP 0 0 0 25 765 TT 0.999931 0.999931 0 + 12 60 456 0 0 31.979927 175 60 6269 249 ENST00000260723.4 0.064171 1 ARMS2 387715 __UNKNOWN__ __UNKNOWN__ 10 124214355 124214355 __UNKNOWN__ Nonsense_Mutation SNP C C T rs2736911 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:124214355C>T ENST00000528446.1 + 1 187 c.112C>T c.(112-114)Cga>Tga p.R38* NM_001099667.1 NP_001093137.1 P0C7Q2 ARMS2_HUMAN age-related maculopathy susceptibility 2 38 NA retina homeostasis (GO:0001895) mitochondrion (GO:0005739)|photoreceptor inner segment (GO:0001917) ovary(1) 1 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TTCCACTCTGCGAGAGTCTGT 0.542 NA C||| 573 0.114417 0.056 0.0908 5008 , , NA 19861 0.1905 NA 0.173 False NA ,,, NA NA NA 2504 0.0716 NA NA NA NA 0 GRCh37 CM083592 ARMS2 M rs2736911 C stop/ARG 288,3772 14,260,1756 142 147 145 112 -2.2 0 10 dbSNP_100 145 1274,7116 105,1064,3026 yes stop-gained ARMS2 NM_001099667.1 119,1324,4782 TT,TC,CC 15.1847,7.0936,12.5462 38/108 124214355 1562,10888 2030 4195 6225 SO:0001587 stop_gained BC066349 CCDS53585.1 10q26.13 2013-01-23 ENSG00000254636 ENSG00000254636 387715 32685 protein-coding gene gene with protein product 611313 NA 16080115, 16174643 Standard NM_001099667 NA Approved LOC387715, ARMD8 uc001lgi.3 P0C7Q2 OTTHUMG00000048232 ENST00000528446.1:c.112C>T chr10.hg19:g.124214355C>T ENSP00000436682:p.Arg38* NA B2Y7I5 hg19 CCDS53585.1 0.02 6.214463 CTGxGAG COVERED 283 0.1295787545787546 32 0.06504065040650407 32 0.08839779005524862 101 0.17657342657342656 118 0.15567282321899736 C 12.36 1.914830 0.33815 0.070936 0.151847 ENSG00000254636 ENST00000528446 . . . 1.45 -2.21 0.06973 . . . . . . . . . . . 0.20307 P 0.9999111937 . . . . . . . . . . 0.02654 T 1 . 0.5279 0.00623 0.1922:0.2562:0.3244:0.2272 rs2736911;rs2736911 . . . X 38 . ENSP00000436682:R38X R + 1 2 ARMS2 124204345 0.000000 0.05858 0.000000 0.03702 0.002000 0.02628 -0.426000 0.07008 -0.730000 0.04869 -1.080000 0.02220 CGA NOVEL ARMS2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000109727.2 1 18.355464 KEEP 0 0 0 61 2107 CC 1 1 0 + 10 60 360 0 0 23.811642 178 60 6421 314 ENST00000528446.1 0.053191 1 DMBT1 1755 __UNKNOWN__ __UNKNOWN__ 10 124351992 124351992 __UNKNOWN__ Missense_Mutation SNP C C T rs118033581 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:124351992C>T ENST00000338354.3 + 20 2487 c.2381C>T c.(2380-2382)cCc>cTc p.P794L DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000344338.3_Missense_Mutation_p.P784L|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368955.3_Missense_Mutation_p.P784L|DMBT1_ENST00000368909.3_Missense_Mutation_p.P794L Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 794 SRCR 6. {ECO:0000255|PROSITE- ProRule:PRU00196}. NA defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032) cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589) calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375) breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) GGCTCAGGACCCATTGTTCTG 0.602 NA C||| 254 0.0507188 0.0015 0.0821 5008 , , NA 17841 0.131 NA 0.004 False NA ,,, NA NA NA 2504 0.0603 NA NA NA Ovarian(182;93 2026 18125 22222 38972) NA 0 C ,LEU/PRO,LEU/PRO 9,3997 0,9,1994 167 126 140 ,2381,2351 -5.1 0 10 dbSNP_132 140 15,8221 1,13,4104 no intron,missense,missense DMBT1 NM_004406.2,NM_007329.2,NM_017579.2 ,98,98 1,22,6098 TT,TC,CC 0.1821,0.2247,0.196 ,probably-damaging,probably-damaging ,794/2414,784/2404 124351992 24,12218 2003 4118 6121 SO:0001583 missense CCDS44490.1, CCDS44491.1, CCDS44492.1 10q25.3-q26.1 2008-08-01 ENSG00000187908 ENSG00000187908 1755 2926 protein-coding gene gene with protein product 601969 NA 9288095, 17548659 Standard NM_004406 NM_004406 NA Approved GP340, muclin uc001lgk.1 Q9UGM3 OTTHUMG00000019185 ENST00000338354.3:c.2381C>T chr10.hg19:g.124351992C>T ENSP00000342210:p.Pro794Leu NA A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9 hg19 0.02 1.839131 GACxCAT COVERED 98 0.04487179487179487 2 0.0040650406504065045 26 0.0718232044198895 69 0.12062937062937062 1 0.0013192612137203166 C 2.068 -0.413842 0.04799 0.002247 0.001821 ENSG00000187908 ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000344338;ENST00000368909;ENST00000368955 T;T;T;T 0.44083 0.93;0.93;0.93;0.93 3.9 -5.06 0.02946 Speract/scavenger receptor (2);Speract/scavenger receptor-related (2); . . . . T 0.00440 0.0014 L 0.56340 1.77 0.09310 N 1 P;B;B;B 0.47841 0.901;0.013;0.013;0.016 P;B;B;B 0.46110 0.504;0.014;0.014;0.024 T 0.02391 -1.1166 9 0.36615 T 0.2 . 0.5612 0.00679 0.324:0.2818:0.1733:0.221 . 555;794;784;794 Q9UGM3-4;Q9UGM3-6;Q9UGM3-3;Q9UGM3 .;.;.;DMBT1_HUMAN L 794;794;794;794;794;794;784;794;784 ENSP00000342210:P794L;ENSP00000343175:P784L;ENSP00000357905:P794L;ENSP00000357951:P784L ENSP00000342210:P794L P + 2 0 DMBT1 124341982 0.000000 0.05858 0.000000 0.03702 0.011000 0.07611 -5.246000 0.00138 -0.595000 0.05828 -0.251000 0.11542 CCC NOVEL DMBT1-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000050792.2 0 2.407527 KEEP 0 0 0 8 262 CC 0.99257 0.990784 0 + 4 60 145 0 0 9.652881 70 60 2484 92 ENST00000338354.3 0.054054 0.9982 DMBT1 1755 __UNKNOWN__ __UNKNOWN__ 10 124399985 124399985 __UNKNOWN__ Intron SNP G G T rs2261660 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:124399985G>T ENST00000338354.3 + 52 7071 DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000344338.3_Intron|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368955.3_Intron|DMBT1_ENST00000368909.3_Intron Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 NA NA defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032) cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589) calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375) breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) GTCTTTATGCGATGGCCTTAA 0.438 NA G||| 2935 0.586062 0.829 0.4582 5008 , , NA 24543 0.6657 NA 0.3698 False NA ,,, NA NA NA 2504 0.4888 NA NA NA Ovarian(182;93 2026 18125 22222 38972) NA 0 G ,, 3085,853 1230,625,114 34 33 33 ,, -3.4 0 10 dbSNP_100 33 3163,5149 598,1967,1591 no intron,intron,intron DMBT1 NM_004406.2,NM_007329.2,NM_017579.2 ,, 1828,2592,1705 TT,TG,GG 38.0534,21.6607,48.9959 ,, ,, 124399985 6248,6002 1969 4156 6125 SO:0001627 intron_variant CCDS44490.1, CCDS44491.1, CCDS44492.1 10q25.3-q26.1 2008-08-01 ENSG00000187908 ENSG00000187908 1755 2926 protein-coding gene gene with protein product 601969 NA 9288095, 17548659 Standard NM_004406 NM_004406 NA Approved GP340, muclin uc001lgk.1 Q9UGM3 OTTHUMG00000019185 ENST00000338354.3:c.6965+20G>T chr10.hg19:g.124399985G>T NA A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9 hg19 0.02 3.64901 TGCxATG COVERED NOVEL DMBT1-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000050792.2 3 3.611604 KEEP 0 0 0 12 407 GG 0.993634 0.993634 0 + 6 60 208 0 0 12.914151 134 60 4940 181 ENST00000338354.3 0.042857 1 DMBT1 1755 __UNKNOWN__ __UNKNOWN__ 10 124402944 124402944 __UNKNOWN__ 3'UTR SNP G G A rs8441 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:124402944G>A ENST00000338354.3 + 0 7378 DMBT1_ENST00000330163.4_3'UTR|DMBT1_ENST00000368956.2_3'UTR|DMBT1_ENST00000344338.3_3'UTR|DMBT1_ENST00000359586.6_3'UTR|DMBT1_ENST00000368955.3_3'UTR|DMBT1_ENST00000368909.3_3'UTR Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 NA NA defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032) cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589) calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375) breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) ACTGTCCACCGGGGCGCAGAC 0.602 NA G||| 1186 0.236821 0.4168 0.2003 5008 , , NA 18573 0.1419 NA 0.2227 False NA ,,, NA NA NA 2504 0.1319 NA NA NA Ovarian(182;93 2026 18125 22222 38972) NA 0 G ,, 1432,2504 260,912,796 13 14 14 ,, -7.1 0 10 dbSNP_52 14 1788,6502 196,1396,2553 no utr-3,utr-3,utr-3 DMBT1 NM_004406.2,NM_007329.2,NM_017579.2 ,, 456,2308,3349 AA,AG,GG 21.5682,36.3821,26.3373 ,, ,, 124402944 3220,9006 1968 4145 6113 SO:0001624 3_prime_UTR_variant CCDS44490.1, CCDS44491.1, CCDS44492.1 10q25.3-q26.1 2008-08-01 ENSG00000187908 ENSG00000187908 1755 2926 protein-coding gene gene with protein product 601969 NA 9288095, 17548659 Standard NM_004406 NM_004406 NA Approved GP340, muclin uc001lgk.1 Q9UGM3 OTTHUMG00000019185 ENST00000338354.3:c.*30G>A chr10.hg19:g.124402944G>A NA A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9 hg19 0.02 7.420133 ACCxGGG COVERED NOVEL DMBT1-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000050792.2 2 3.309421 KEEP 0 0 0 11 358 GG 0.993072 0.993072 0 + 8 60 306 0 0 20.786754 145 60 5007 179 ENST00000338354.3 0.052288 1 ACADSB 36 __UNKNOWN__ __UNKNOWN__ 10 124817707 124817707 __UNKNOWN__ 3'UTR SNP T T C rs7732 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:124817707T>C ENST00000358776.4 + 0 5739 NM_001609.3 NP_001600.1 P45954 ACDSB_HUMAN acyl-CoA dehydrogenase, short/branched chain NA NA branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281) extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739) acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660) breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 17 all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163) Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835) L-Isoleucine(DB00167)|Valproic Acid(DB00313) CAGAATGGTATGTATCGGATT 0.279 NA T||| 962 0.192093 0.115 0.2435 5008 , , NA 19339 0.1042 NA 0.2276 False NA ,,, NA NA NA 2504 0.3139 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U12778 CCDS7634.1 10q25-q26 2014-09-17 2010-04-30 ENSG00000196177 ENSG00000196177 36 1.3.99.- 91 protein-coding gene gene with protein product 600301 acyl-Coenzyme A dehydrogenase, short/branched chain NA 7698750, 7759115 Standard NM_001609 NM_001609 NA Approved SBCAD, ACAD7 uc001lhb.3 P45954 OTTHUMG00000019200 ENST00000358776.4:c.*4426T>C chr10.hg19:g.124817707T>C NA B4DQ51|Q5SQN6|Q96CX7 hg19 CCDS7634.1 0.02 5.683202 GTAxGTA COVERED NOVEL ACADSB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050843.1 0 4.511639 KEEP 0 0 0 15 435 TT 0.99649 0.99649 0 + 6 60 209 0 0 12.512861 163 60 6055 214 ENST00000358776.4 0.035503 1 ACADSB 36 __UNKNOWN__ __UNKNOWN__ 10 124817748 124817748 __UNKNOWN__ 3'UTR SNP A A T rs6838 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:124817748A>T ENST00000358776.4 + 0 5780 NM_001609.3 NP_001600.1 P45954 ACDSB_HUMAN acyl-CoA dehydrogenase, short/branched chain NA NA branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281) extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739) acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660) breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 17 all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163) Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835) L-Isoleucine(DB00167)|Valproic Acid(DB00313) ATTGTATTCGATGTTACAAAA 0.264 NA A||| 1672 0.333866 0.3502 0.3689 5008 , , NA 17699 0.1062 NA 0.3887 False NA ,,, NA NA NA 2504 0.4652 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U12778 CCDS7634.1 10q25-q26 2014-09-17 2010-04-30 ENSG00000196177 ENSG00000196177 36 1.3.99.- 91 protein-coding gene gene with protein product 600301 acyl-Coenzyme A dehydrogenase, short/branched chain NA 7698750, 7759115 Standard NM_001609 NM_001609 NA Approved SBCAD, ACAD7 uc001lhb.3 P45954 OTTHUMG00000019200 ENST00000358776.4:c.*4467A>T chr10.hg19:g.124817748A>T NA B4DQ51|Q5SQN6|Q96CX7 hg19 CCDS7634.1 0.02 5.94192 TCGxTGT COVERED NOVEL ACADSB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050843.1 1 6.620056 KEEP 0 0 0 22 698 AA 0.999879 0.999879 0 + 6 60 216 0 0 12.972314 179 60 6631 267 ENST00000358776.4 0.032432 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 124898260 124898260 __UNKNOWN__ IGR SNP T T C rs12243192 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:124898260T>C NA NA HMX3 (1003 upstream) : HMX2 (9377 downstream) NA NA NA TCTGACTATTTGAAACAGCTC 0.313 NA T||| 2296 0.458466 0.3585 0.4769 5008 , , NA 14823 0.3343 NA 0.5746 False NA ,,, NA NA NA 2504 0.589 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.124898260T>C NA hg19 0.02 1.87412 ATTxGAA COVERED NOVEL 0 0 5.115846 KEEP 0 0 0 17 549 TT 0.999366 0.996092 0 4 60 136 0 0 8.853253 66 60 2472 110 0.057143 0.996724 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 124898528 124898528 __UNKNOWN__ IGR SNP C C G rs7905310 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:124898528C>G NA NA HMX3 (1271 upstream) : HMX2 (9109 downstream) NA NA NA GGAAACAGACCTTTTCACTGT 0.403 NA C||| 1927 0.384784 0.3654 0.3775 5008 , , NA 15709 0.2758 NA 0.3618 False NA ,,, NA NA NA 2504 0.5521 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.124898528C>G NA hg19 0.02 1.856638 GACxTTT COVERED NOVEL 0 0 4.815494 KEEP 0 0 0 16 555 CC 0.997832 0.99539 0 5 60 164 0 0 10.905291 67 60 2408 96 0.069444 0.997553 BUB3 9184 __UNKNOWN__ __UNKNOWN__ 10 124924402 124924402 __UNKNOWN__ Intron SNP C C T rs7095154 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:124924402C>T ENST00000368859.2 + 5 501 BUB3_ENST00000368858.5_Intron|BUB3_ENST00000368865.4_3'UTR O43684 BUB3_HUMAN BUB3 mitotic checkpoint protein NA NA anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|attachment of spindle microtubules to kinetochore (GO:0008608)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|regulation of chromosome segregation (GO:0051983)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|spindle assembly checkpoint (GO:0071173) cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634) endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 9 all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163) AAATGTATGTCTCTGAGTAGG 0.294 NA C||| 1218 0.243211 0.3427 0.1398 5008 , , NA 17593 0.374 NA 0.1163 False NA ,,, NA NA NA 2504 0.1779 NA NA NA GBM(161;1111 1985 17553 20049 26037) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF053304 CCDS7635.1, CCDS31306.1 10q24 2013-01-17 2013-01-17 ENSG00000154473 ENSG00000154473 9184 WD repeat domain containing 1151 protein-coding gene gene with protein product 603719 BUB3 (budding uninhibited by benzimidazoles 3, yeast) homolog, budding uninhibited by benzimidazoles 3 homolog (yeast) NA 9660858 Standard NM_004725 NA Approved BUB3L uc001lhe.2 O43684 OTTHUMG00000019197 ENST00000368859.2:c.418-161C>T chr10.hg19:g.124924402C>T NA A6NJ42|B2R6E7|D3DRE9|O43685 hg19 0.02 8.2113 TGTxTCT COVERED NOVEL BUB3-004 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000050838.2 3 11.436943 KEEP 0 0 0 38 1326 CC 1 1 0 + 17 60 610 0 0 42.331279 227 60 8499 318 ENST00000368859.2 0.069672 1 CPXM2 119587 __UNKNOWN__ __UNKNOWN__ 10 125549410 125549410 __UNKNOWN__ Intron SNP G G A rs2885662 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:125549410G>A ENST00000241305.3 - 6 1044 CPXM2_ENST00000368854.3_Intron NM_198148.2 NP_937791.2 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 NA NA cell adhesion (GO:0007155) extracellular space (GO:0005615) metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270) NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) cgaggcaggcggatcacgagg 0.532 NA G||| 756 0.150958 0.388 0.1124 5008 , , NA 14554 0.004 NA 0.1113 False NA ,,, NA NA NA 2504 0.0501 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY358565 CCDS7637.1 10q26 2012-02-10 ENSG00000121898 ENSG00000121898 119587 26977 protein-coding gene gene with protein product cytosolic carboxypeptidase NA 12975309 Standard NM_198148 NM_198148 NA Approved UNQ676, CPX2 uc001lhk.1 Q8N436 OTTHUMG00000019206 ENST00000241305.3:c.889+8081C>T chr10.hg19:g.125549410G>A NA B4E3Q2 hg19 CCDS7637.1 0.02 -0.078961 GGCxGAT UNCOVERED NOVEL CPXM2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050853.1 1 2.407931 KEEP 3 0 0 8 288 GG 0 0 0 - 8 60 306 0 0 33.053146 1 60 38 24 ENST00000241305.3 0.888889 0.077336 CPXM2 119587 __UNKNOWN__ __UNKNOWN__ 10 125622263 125622263 __UNKNOWN__ Intron SNP A A T rs28469012 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:125622263A>T ENST00000241305.3 - 3 558 CPXM2_ENST00000368854.3_Intron NM_198148.2 NP_937791.2 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 NA NA cell adhesion (GO:0007155) extracellular space (GO:0005615) metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270) NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) ATGCTTGTTAAAAACAACGAC 0.488 NA A||| 762 0.152157 0.0817 0.1268 5008 , , NA 21565 0.3165 NA 0.1183 False NA ,,, NA NA NA 2504 0.1309 NA NA NA NA 0 A 403,4003 200.8+/-224.0 17,369,1817 53 48 50 -5.8 0 10 dbSNP_125 50 1036,7564 218.4+/-256.8 52,932,3316 no intron CPXM2 NM_198148.2 69,1301,5133 TT,TA,AA 12.0465,9.1466,11.0641 125622263 1439,11567 2203 4300 6503 SO:0001627 intron_variant AY358565 CCDS7637.1 10q26 2012-02-10 ENSG00000121898 ENSG00000121898 119587 26977 protein-coding gene gene with protein product cytosolic carboxypeptidase NA 12975309 Standard NM_198148 NM_198148 NA Approved UNQ676, CPX2 uc001lhk.1 Q8N436 OTTHUMG00000019206 ENST00000241305.3:c.404-24T>A chr10.hg19:g.125622263A>T NA B4E3Q2 hg19 CCDS7637.1 0.02 11.627812 TTAxAAA COVERED NOVEL CPXM2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050853.1 0 4.8621 KEEP 0 2 62 38 1161 AA 1 1 0 - 18 60 666 0 0 47.03421 234 60 8459 344 ENST00000241305.3 0.071429 1 CHST15 51363 __UNKNOWN__ __UNKNOWN__ 10 125801809 125801809 __UNKNOWN__ Intron SNP C C A rs28716482 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:125801809C>A ENST00000346248.5 - 4 1676 CHST15_ENST00000421115.1_Intron|CHST15_ENST00000435907.1_Intron NM_015892.4 NP_056976.2 Q7LFX5 CHSTF_HUMAN carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15 NA NA carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hexose biosynthetic process (GO:0019319)|small molecule metabolic process (GO:0044281) Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021) 3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659) p.?(1) endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1) 26 GTGACACAGACGCCTTACCGA 0.567 NA A||| 1766 0.352636 0.556 0.2709 5008 , , NA 18210 0.3026 NA 0.2376 False NA ,,, NA NA NA 2504 0.3057 NA NA NA NA 1 Unknown(1) stomach(1) A , 2323,2083 570.5+/-382.9 612,1099,492 110 103 105 , -1.6 0 10 dbSNP_125 105 2374,6226 702.1+/-405.3 329,1716,2255 no intron,intron CHST15 NM_014863.2,NM_015892.3 , 941,2815,2747 AA,AC,CC 27.6047,47.2764,36.1141 , , 125801809 4697,8309 2203 4300 6503 SO:0001627 intron_variant AB011170 CCDS7638.1 10q26 2009-07-09 ENSG00000182022 ENSG00000182022 51363 2.8.2.33 Sulfotransferases, membrane-bound 18137 protein-coding gene gene with protein product B cell RAG associated protein, N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase 608277 NA 9628581, 9754571, 11572857 Standard NM_015892 NM_014863 NA Approved GALNAC4S-6ST, BRAG, KIAA0598 uc001lhm.4 Q7LFX5 OTTHUMG00000019208 ENST00000346248.5:c.1033+7G>T chr10.hg19:g.125801809C>A NA O60338|O60474|Q86VM4 hg19 CCDS7638.1 0.02 1.438494 AGAxGCC COVERED NOVEL CHST15-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050856.1 1 8.427291 KEEP 0 0 0 28 993 CC 0.999997 0.999937 0 - 5 60 157 0 0 9.563828 92 60 3361 139 ENST00000346248.5 0.051546 0.99994 FAM175B 23172 __UNKNOWN__ __UNKNOWN__ 10 126517989 126517989 __UNKNOWN__ Silent SNP G G A rs2303611 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:126517989G>A ENST00000298492.5 + 7 651 c.606G>A c.(604-606)gtG>gtA p.V202V NM_032182.3 NP_115558.3 Q15018 F175B_HUMAN family with sequence similarity 175, member B 202 NA cellular response to freezing (GO:0071497) BRISC complex (GO:0070552)|cytoplasm (GO:0005737) polyubiquitin binding (GO:0031593) NS(1) 1 AGGATGGAGTGATGAAAGACA 0.373 NA G||| 2419 0.483027 0.1694 0.5663 5008 , , NA 18460 0.5873 NA 0.5457 False NA ,,, NA NA NA 2504 0.6759 NA NA NA NA 0 G 1043,3363 382.1+/-324.3 130,783,1290 175 165 168 606 -11.7 0 10 dbSNP_100 168 4905,3695 620.3+/-397.0 1403,2099,798 no coding-synonymous FAM175B NM_032182.3 1533,2882,2088 AA,AG,GG 42.9651,23.6723,45.7327 202/416 126517989 5948,7058 2203 4300 6503 SO:0001819 synonymous_variant D63877 CCDS31308.2 10q26.2 2013-01-24 2008-07-02 2008-07-02 ENSG00000165660 ENSG00000165660 23172 28975 protein-coding gene gene with protein product Abraxas brother 611144 KIAA0157 KIAA0157 NA 8590280 Standard NM_032182 NM_032182 NA Approved Em:AC068896.4, ABRO1 uc001lib.4 Q15018 OTTHUMG00000019218 ENST00000298492.5:c.606G>A chr10.hg19:g.126517989G>A NA B4DKR2|Q96H11 hg19 CCDS31308.2 0.02 14.495298 AGTxATG COVERED NOVEL FAM175B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050891.2 1 17.760378 KEEP 0 3 85 89 3148 GG 1 1 0 + 23 60 837 0 0 56.72309 367 60 13831 600 ENST00000298492.5 0.058974 1 ZRANB1 54764 __UNKNOWN__ __UNKNOWN__ 10 126670356 126670356 __UNKNOWN__ Silent SNP G G A rs17152433 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:126670356G>A ENST00000359653.4 + 6 1877 c.1506G>A c.(1504-1506)caG>caA p.Q502Q ZRANB1_ENST00000471421.1_3'UTR NM_017580.2 NP_060050.2 Q9UGI0 ZRAN1_HUMAN zinc finger, RAN-binding domain containing 1 502 OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|TRAF-binding. NA cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|positive regulation of Wnt signaling pathway (GO:0030177)|protein deubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0071947)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell morphogenesis (GO:0022604)|Wnt signaling pathway (GO:0016055) cytoplasm (GO:0005737)|nucleus (GO:0005634) K63-linked polyubiquitin binding (GO:0070530)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270) NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 23 all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172) Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119) GAGAAGAACAGTGGCAAGAAG 0.388 NA G||| 1316 0.26278 0.5038 0.232 5008 , , NA 18808 0.1855 NA 0.1431 False NA ,,, NA NA NA 2504 0.1616 NA NA NA NA 0 G 2026,2380 563.4+/-381.2 451,1124,628 130 134 133 1506 2.7 1 10 dbSNP_123 133 1128,7472 233.2+/-266.6 68,992,3240 no coding-synonymous ZRANB1 NM_017580.2 519,2116,3868 AA,AG,GG 13.1163,45.9828,24.2503 502/709 126670356 3154,9852 2203 4300 6503 SO:0001819 synonymous_variant AJ252060 CCDS7642.1 10q26.12 2014-02-24 ENSG00000019995 ENSG00000019995 54764 Zinc fingers, RAN-binding domain containing, OTU domain containing 18224 protein-coding gene gene with protein product 611749 NA 11463333 Standard NM_017580 NM_017580 NA Approved TRABID uc001lic.3 Q9UGI0 OTTHUMG00000019223 ENST00000359653.4:c.1506G>A chr10.hg19:g.126670356G>A NA B4DZ98|D3DRF4|Q5SQP6|Q69YK3 hg19 CCDS7642.1 0.02 9.13825 ACAxTGG COVERED NOVEL ZRANB1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050898.1 0 12.641607 KEEP 0 0 0 42 1530 GG 1 1 0 + 9 60 336 0 0 21.61582 209 60 7898 314 ENST00000359653.4 0.041284 1 ZRANB1 54764 __UNKNOWN__ __UNKNOWN__ 10 126671673 126671673 __UNKNOWN__ Intron SNP T T C rs2241541 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:126671673T>C ENST00000359653.4 + 7 1919 ZRANB1_ENST00000471421.1_Intron NM_017580.2 NP_060050.2 Q9UGI0 ZRAN1_HUMAN zinc finger, RAN-binding domain containing 1 NA NA cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|positive regulation of Wnt signaling pathway (GO:0030177)|protein deubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0071947)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell morphogenesis (GO:0022604)|Wnt signaling pathway (GO:0016055) cytoplasm (GO:0005737)|nucleus (GO:0005634) K63-linked polyubiquitin binding (GO:0070530)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270) NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 23 all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172) Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119) GGGGAGGTAGTATTGTTTTTT 0.353 NA T||| 859 0.171526 0.1921 0.2032 5008 , , NA 19492 0.1706 NA 0.1431 False NA ,,, NA NA NA 2504 0.1513 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ252060 CCDS7642.1 10q26.12 2014-02-24 ENSG00000019995 ENSG00000019995 54764 Zinc fingers, RAN-binding domain containing, OTU domain containing 18224 protein-coding gene gene with protein product 611749 NA 11463333 Standard NM_017580 NM_017580 NA Approved TRABID uc001lic.3 Q9UGI0 OTTHUMG00000019223 ENST00000359653.4:c.1549-71T>C chr10.hg19:g.126671673T>C NA B4DZ98|D3DRF4|Q5SQP6|Q69YK3 hg19 CCDS7642.1 0.02 7.029606 TAGxATT COVERED NOVEL ZRANB1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050898.1 2 7.951412 KEEP 0 1 36 39 1080 TT 1 1 0 + 11 60 390 0 0 27.125624 141 60 4789 197 ENST00000359653.4 0.072368 1 CTBP2 1488 __UNKNOWN__ __UNKNOWN__ 10 126715629 126715629 __UNKNOWN__ Intron SNP C C T rs3781409 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:126715629C>T ENST00000337195.5 - 3 458 CTBP2_ENST00000309035.6_Missense_Mutation_p.V234M|CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000494626.2_Intron NM_001329.2 NP_001320.1 P56545 CTBP2_HUMAN C-terminal binding protein 2 NA NA negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872) cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053) NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714) breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173) Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147) CTGGGGTCCACAACCAGGCAC 0.667 NA C||| 1010 0.201677 0.0998 0.2651 5008 , , NA 17616 0.2431 NA 0.2823 False NA ,,, NA NA NA 2504 0.1687 NA NA NA NA 0 C ,,MET/VAL 541,3865 30,481,1692 40 47 44 ,,700 3.6 1 10 dbSNP_107 44 2280,6318 321,1638,2340 yes intron,intron,missense CTBP2 NM_001083914.1,NM_001329.2,NM_022802.2 ,,21 351,2119,4032 TT,TC,CC 26.5178,12.2787,21.6933 ,,benign ,,234/986 126715629 2821,10183 2203 4299 6502 SO:0001627 intron_variant AF016507 CCDS7643.1, CCDS7644.1 10q26.13 2008-08-01 ENSG00000175029 ENSG00000175029 1488 2495 protein-coding gene gene with protein product 602619 NA 9479502, 11864595 Standard NM_001083914 NM_022802 NA Approved ribeye uc001lie.4 P56545 OTTHUMG00000019224 ENST00000337195.5:c.58+11936G>A chr10.hg19:g.126715629C>T NA A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8 hg19 CCDS7643.1 0.02 7.97038 CCAxAAC COVERED 525 0.2403846153846154 42 0.08536585365853659 111 0.30662983425414364 152 0.26573426573426573 220 0.29023746701846964 C 20.6 4.024336 0.75390 0.122787 0.265178 ENSG00000175029 ENST00000309035 D 0.88664 -2.41 4.54 3.64 0.41730 . 0.201012 0.30649 N 0.009162 T 0.00012 0.0000 . . . 0.09310 P 1.0 B 0.28350 0.208 B 0.30572 0.117 T 0.01909 -1.1249 8 0.59425 D 0.04 . 12.9826 0.58572 0.0:0.9215:0.0:0.0785 rs3781409;rs17710610;rs3781409 234 P56545-2 . M 234 ENSP00000311825:V234M ENSP00000311825:V234M V - 1 0 CTBP2 126705619 0.997000 0.39634 0.956000 0.39512 0.967000 0.64934 3.490000 0.53245 1.283000 0.44513 0.655000 0.94253 GTG NOVEL CTBP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050900.3 0 12.133789 KEEP 0 3 90 72 2520 CC 1 1 0 - 8 60 276 0 0 16.411555 218 60 8163 340 ENST00000337195.5 0.035398 1 CTBP2 1488 __UNKNOWN__ __UNKNOWN__ 10 126787333 126787333 __UNKNOWN__ Intron SNP G G C rs11245504|rs60166784 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:126787333G>C ENST00000337195.5 - 2 299 CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000476817.1_Intron|CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000494626.2_Intron NM_001329.2 NP_001320.1 P56545 CTBP2_HUMAN C-terminal binding protein 2 NA NA negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872) cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053) NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714) breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173) Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147) gagagagagagagagagagag 0.537 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF016507 CCDS7643.1, CCDS7644.1 10q26.13 2008-08-01 ENSG00000175029 ENSG00000175029 1488 2495 protein-coding gene gene with protein product 602619 NA 9479502, 11864595 Standard NM_001083914 NM_022802 NA Approved ribeye uc001lie.4 P56545 OTTHUMG00000019224 ENST00000337195.5:c.100+12225C>G chr10.hg19:g.126787333G>C NA A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8 hg19 CCDS7643.1 0.02 -0.070183 AGAxAGA UNCOVERED NOVEL CTBP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050900.3 19 3.610264 KEEP 19 0 0 12 379 GG 0 0 0 - 2 60 80 0 1 8.124904 1 60 38 42 ENST00000337195.5 0.666667 0.054137 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 127580185 127580185 __UNKNOWN__ IGR SNP C C G rs77419790 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:127580185C>G NA NA RNU2-42P (938 upstream) : FANK1 (4922 downstream) NA NA NA acataaatatCAAGATTTCTG 0.313 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.127580185C>G NA hg19 0.02 -0.315842 TATxAAG COVERED NOVEL 0 1 2.407823 KEEP 0 0 0 8 277 CC 0.99257 0.812384 0 4 60 160 0 0 13.467933 17 60 655 45 0.190476 0.818465 FANK1 92565 __UNKNOWN__ __UNKNOWN__ 10 127586716 127586716 __UNKNOWN__ Intron SNP G G A rs73383038 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:127586716G>A ENST00000368695.1 + 1 117 FANK1_ENST00000368693.1_Intron|FANK1_ENST00000449042.2_Intron NM_145235.3 NP_660278.3 Q8TC84 FANK1_HUMAN fibronectin type III and ankyrin repeat domains 1 NA NA cytoplasm (GO:0005737)|nucleus (GO:0005634) central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1) 21 all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936) agattgcaccgctgcactcca 0.512 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC024189 CCDS31309.1 10q26.2 2013-02-11 2005-03-01 ENSG00000203780 ENSG00000203780 92565 Ankyrin repeat domain containing, Fibronectin type III domain containing 23527 protein-coding gene gene with protein product 611640 fibronectin type 3 and ankyrin repeat domains 1 NA 12477932 Standard NM_145235 NM_145235 NA Approved uc001ljh.4 Q8TC84 OTTHUMG00000019241 ENST00000368695.1:c.-6+1492G>A chr10.hg19:g.127586716G>A NA Q6UXY9|Q6X7T6 hg19 0.02 -0.043863 ACCxCTG UNCOVERED NOVEL FANK1-001 KNOWN basic protein_coding NA protein_coding OTTHUMT00000050950.1 5 3.310818 KEEP 0 0 0 11 389 GG 0.993072 0.023907 0 + 2 27 63 0 0 7.25359 0 0 0 19 ENST00000368695.1 1 0.024074 FANK1 92565 __UNKNOWN__ __UNKNOWN__ 10 127608053 127608053 __UNKNOWN__ Intron SNP G G T rs75425564 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:127608053G>T ENST00000368695.1 + 1 117 FANK1_ENST00000368693.1_Intron|FANK1_ENST00000449042.2_Intron NM_145235.3 NP_660278.3 Q8TC84 FANK1_HUMAN fibronectin type III and ankyrin repeat domains 1 NA NA cytoplasm (GO:0005737)|nucleus (GO:0005634) central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1) 21 all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936) gggattacaggtgtgagccac 0.493 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC024189 CCDS31309.1 10q26.2 2013-02-11 2005-03-01 ENSG00000203780 ENSG00000203780 92565 Ankyrin repeat domain containing, Fibronectin type III domain containing 23527 protein-coding gene gene with protein product 611640 fibronectin type 3 and ankyrin repeat domains 1 NA 12477932 Standard NM_145235 NM_145235 NA Approved uc001ljh.4 Q8TC84 OTTHUMG00000019241 ENST00000368695.1:c.-6+22829G>T chr10.hg19:g.127608053G>T NA Q6UXY9|Q6X7T6 hg19 0.02 -0.166683 CAGxTGT COVERED NOVEL FANK1-001 KNOWN basic protein_coding NA protein_coding OTTHUMT00000050950.1 4 4.514944 KEEP 0 0 0 15 553 AG 0.999859 0.612321 0 + 2 54 72 0 0 6.33547 5 60 194 63 ENST00000368695.1 0.285714 0.612407 FANK1 92565 __UNKNOWN__ __UNKNOWN__ 10 127685091 127685091 __UNKNOWN__ Intron SNP T T C rs3736477 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:127685091T>C ENST00000368695.1 + 5 502 FANK1_ENST00000368693.1_Intron NM_145235.3 NP_660278.3 Q8TC84 FANK1_HUMAN fibronectin type III and ankyrin repeat domains 1 NA NA cytoplasm (GO:0005737)|nucleus (GO:0005634) central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1) 21 all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936) ACTGAGCATGTTTATCTCTTT 0.443 NA C||| 3096 0.618211 0.4569 0.5288 5008 , , NA 17039 0.7748 NA 0.6491 False NA ,,, NA NA NA 2504 0.7065 NA NA NA NA 0 C 2198,2208 587.6+/-386.7 565,1068,570 185 170 175 -5.5 0 10 dbSNP_107 175 5817,2783 441.3+/-359.8 1940,1937,423 no intron FANK1 NM_145235.3 2505,3005,993 CC,CT,TT 32.3605,49.8865,38.3746 127685091 8015,4991 2203 4300 6503 SO:0001627 intron_variant BC024189 CCDS31309.1 10q26.2 2013-02-11 2005-03-01 ENSG00000203780 ENSG00000203780 92565 Ankyrin repeat domain containing, Fibronectin type III domain containing 23527 protein-coding gene gene with protein product 611640 fibronectin type 3 and ankyrin repeat domains 1 NA 12477932 Standard NM_145235 NM_145235 NA Approved uc001ljh.4 Q8TC84 OTTHUMG00000019241 ENST00000368695.1:c.381-28T>C chr10.hg19:g.127685091T>C NA Q6UXY9|Q6X7T6 hg19 0.02 17.197781 ATGxTTA COVERED NOVEL FANK1-001 KNOWN basic protein_coding NA protein_coding OTTHUMT00000050950.1 1 11.7694 KEEP 0 1 37 52 1633 TT 1 1 0 + 31 60 1155 0 0 84.623083 324 60 11581 485 ENST00000368695.1 0.087324 1 ADAM12 8038 __UNKNOWN__ __UNKNOWN__ 10 127705280 127705280 __UNKNOWN__ 3'UTR SNP G G C rs10751538 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:127705280G>C ENST00000368679.4 - 0 3607 NM_003474.4 NP_003465.3 O43184 ADA12_HUMAN ADAM metallopeptidase domain 12 NA NA cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520) extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270) biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216) TTTCTCCCAGGTGTCCCTGGG 0.577 NA C||| 3516 0.702077 0.7398 0.5634 5008 , , NA 16900 0.7877 NA 0.6541 False NA ,,, NA NA NA 2504 0.7106 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF023476 CCDS7653.1, CCDS7654.1 10q26 2008-07-29 2008-07-29 ENSG00000148848 ENSG00000148848 8038 ADAM metallopeptidase domain containing 190 protein-coding gene gene with protein product meltrin alpha 602714 a disintegrin and metalloproteinase domain 12 (meltrin alpha) NA 9417060, 18342566 Standard NM_003474 NA Approved MCMPMltna, MLTN uc001ljk.2 O43184 OTTHUMG00000019243 ENST00000368679.4:c.*568C>G chr10.hg19:g.127705280G>C NA O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0 hg19 CCDS7653.1 0.02 7.18428 CAGxTGT COVERED NOVEL ADAM12-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050961.1 1 7.524483 KEEP 0 0 0 25 878 GG 0.999931 0.999931 0 - 14 60 526 0 0 37.925975 166 60 5862 249 ENST00000368679.4 0.077778 1 ADAM12 8038 __UNKNOWN__ __UNKNOWN__ 10 127705367 127705367 __UNKNOWN__ 3'UTR SNP T T C rs7916918 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:127705367T>C ENST00000368679.4 - 0 3520 NM_003474.4 NP_003465.3 O43184 ADA12_HUMAN ADAM metallopeptidase domain 12 NA NA cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520) extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270) biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216) GCCCCTTGGCTCTGGCCTGAG 0.562 NA T||| 3200 0.638978 0.5129 0.5418 5008 , , NA 18322 0.7877 NA 0.6531 False NA ,,, NA NA NA 2504 0.7106 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF023476 CCDS7653.1, CCDS7654.1 10q26 2008-07-29 2008-07-29 ENSG00000148848 ENSG00000148848 8038 ADAM metallopeptidase domain containing 190 protein-coding gene gene with protein product meltrin alpha 602714 a disintegrin and metalloproteinase domain 12 (meltrin alpha) NA 9417060, 18342566 Standard NM_003474 NA Approved MCMPMltna, MLTN uc001ljk.2 O43184 OTTHUMG00000019243 ENST00000368679.4:c.*481A>G chr10.hg19:g.127705367T>C NA O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0 hg19 CCDS7653.1 0.02 6.370633 GGCxCTG COVERED NOVEL ADAM12-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050961.1 2 6.018468 KEEP 0 0 0 20 644 TT 0.999863 0.999863 0 - 8 60 288 0 0 18.853243 151 60 5474 207 ENST00000368679.4 0.050314 1 ADAM12 8038 __UNKNOWN__ __UNKNOWN__ 10 127705404 127705404 __UNKNOWN__ 3'UTR SNP A A G rs7913591 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:127705404A>G ENST00000368679.4 - 0 3483 NM_003474.4 NP_003465.3 O43184 ADA12_HUMAN ADAM metallopeptidase domain 12 NA NA cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520) extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270) biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216) ATCAACTGAGATTCTACTTGG 0.527 NA G||| 3168 0.632588 0.4909 0.5375 5008 , , NA 18377 0.7877 NA 0.6531 False NA ,,, NA NA NA 2504 0.7106 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF023476 CCDS7653.1, CCDS7654.1 10q26 2008-07-29 2008-07-29 ENSG00000148848 ENSG00000148848 8038 ADAM metallopeptidase domain containing 190 protein-coding gene gene with protein product meltrin alpha 602714 a disintegrin and metalloproteinase domain 12 (meltrin alpha) NA 9417060, 18342566 Standard NM_003474 NA Approved MCMPMltna, MLTN uc001ljk.2 O43184 OTTHUMG00000019243 ENST00000368679.4:c.*444T>C chr10.hg19:g.127705404A>G NA O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0 hg19 CCDS7653.1 0.02 3.827388 GAGxTTC COVERED NOVEL ADAM12-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050961.1 1 3.244529 KEEP 0 1 32 22 705 AA 0.999892 0.999892 0 - 5 60 181 0 0 11.269075 126 60 4538 180 ENST00000368679.4 0.038168 1 ADAM12 8038 __UNKNOWN__ __UNKNOWN__ 10 127708428 127708428 __UNKNOWN__ Intron SNP A A T rs2138280 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:127708428A>T ENST00000368679.4 - 22 2848 NM_003474.4 NP_003465.3 O43184 ADA12_HUMAN ADAM metallopeptidase domain 12 NA NA cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520) extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270) biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216) AGGGTCACTTACCAGGAGCCA 0.587 NA T||| 2722 0.54353 0.3411 0.4986 5008 , , NA 15938 0.63 NA 0.6441 False NA ,,, NA NA NA 2504 0.6564 NA NA NA NA 0 T 1767,2635 354,1059,788 15 15 15 -6.4 0 10 dbSNP_96 15 5792,2800 1941,1910,445 no intron ADAM12 NM_003474.4 2295,2969,1233 TT,TA,AA 32.5885,40.1408,41.827 127708428 7559,5435 2201 4296 6497 SO:0001627 intron_variant AF023476 CCDS7653.1, CCDS7654.1 10q26 2008-07-29 2008-07-29 ENSG00000148848 ENSG00000148848 8038 ADAM metallopeptidase domain containing 190 protein-coding gene gene with protein product meltrin alpha 602714 a disintegrin and metalloproteinase domain 12 (meltrin alpha) NA 9417060, 18342566 Standard NM_003474 NA Approved MCMPMltna, MLTN uc001ljk.2 O43184 OTTHUMG00000019243 ENST00000368679.4:c.2539-34T>A chr10.hg19:g.127708428A>T NA O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0 hg19 CCDS7653.1 0.02 2.117618 CTTxCCA COVERED NOVEL ADAM12-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050961.1 0 2.404773 KEEP 0 0 0 8 217 AA 0.99254 0.98629 0 - 7 60 237 0 0 17.40449 58 60 1941 90 ENST00000368679.4 0.107692 0.993703 ADAM12 8038 __UNKNOWN__ __UNKNOWN__ 10 127730108 127730108 __UNKNOWN__ Intron SNP C C T rs116868195 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:127730108C>T ENST00000368679.4 - 18 2423 ADAM12_ENST00000368676.4_3'UTR NM_003474.4 NP_003465.3 O43184 ADA12_HUMAN ADAM metallopeptidase domain 12 NA NA cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520) extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270) biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216) CAGAGTTCACCGCCCTTTCTC 0.483 NA c||| 49 0.00978435 0.0045 0.0 5008 , , NA 18503 0.0317 NA 0.0 False NA ,,, NA NA NA 2504 0.0112 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF023476 CCDS7653.1, CCDS7654.1 10q26 2008-07-29 2008-07-29 ENSG00000148848 ENSG00000148848 8038 ADAM metallopeptidase domain containing 190 protein-coding gene gene with protein product meltrin alpha 602714 a disintegrin and metalloproteinase domain 12 (meltrin alpha) NA 9417060, 18342566 Standard NM_003474 NA Approved MCMPMltna, MLTN uc001ljk.2 O43184 OTTHUMG00000019243 ENST00000368679.4:c.2113+1500G>A chr10.hg19:g.127730108C>T NA O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0 hg19 CCDS7653.1 0.02 -0.421027 CACxGCC COVERED NOVEL ADAM12-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050961.1 0 3.611146 KEEP 0 0 0 12 384 CC 0.993634 0.942364 0 - 4 60 141 0 0 10.032066 44 60 1470 68 ENST00000368679.4 0.083333 0.948402 ADAM12 8038 __UNKNOWN__ __UNKNOWN__ 10 127730529 127730529 __UNKNOWN__ Intron SNP C C T rs11244779 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:127730529C>T ENST00000368679.4 - 18 2423 ADAM12_ENST00000368676.4_3'UTR NM_003474.4 NP_003465.3 O43184 ADA12_HUMAN ADAM metallopeptidase domain 12 NA NA cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520) extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270) biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216) TTTCTGCAGACGTGCCTGGTA 0.537 NA C||| 48 0.00958466 0.0 0.0 5008 , , NA 21437 0.0387 NA 0.0 False NA ,,, NA NA NA 2504 0.0092 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF023476 CCDS7653.1, CCDS7654.1 10q26 2008-07-29 2008-07-29 ENSG00000148848 ENSG00000148848 8038 ADAM metallopeptidase domain containing 190 protein-coding gene gene with protein product meltrin alpha 602714 a disintegrin and metalloproteinase domain 12 (meltrin alpha) NA 9417060, 18342566 Standard NM_003474 NA Approved MCMPMltna, MLTN uc001ljk.2 O43184 OTTHUMG00000019243 ENST00000368679.4:c.2113+1079G>A chr10.hg19:g.127730529C>T NA O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0 hg19 CCDS7653.1 0.02 6.631492 AGAxGTG COVERED NOVEL ADAM12-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050961.1 0 7.825164 KEEP 0 0 0 26 895 CC 0.999957 0.999957 0 - 13 60 470 0 0 32.744072 173 60 6052 251 ENST00000368679.4 0.069892 1 DOCK1 1793 __UNKNOWN__ __UNKNOWN__ 10 128797717 128797717 __UNKNOWN__ Intron SNP T T C rs2275540 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:128797717T>C ENST00000280333.6 + 9 958 NM_001380.3 NP_001371.1 Q14185 DOCK1_HUMAN dedicator of cytokinesis 1 NA NA apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264) cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634) GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085) NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 72 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115) CACCCAAAGATGCTTAGTTGA 0.453 NA T||| 1146 0.228834 0.1959 0.2594 5008 , , NA 18631 0.3214 NA 0.2068 False NA ,,, NA NA NA 2504 0.1789 NA NA NA NA 0 T 745,3049 62,621,1214 86 81 83 -2.7 0 10 dbSNP_100 83 1668,6586 181,1306,2640 no intron DOCK1 NM_001380.3 243,1927,3854 CC,CT,TT 20.2084,19.6363,20.0282 128797717 2413,9635 1897 4127 6024 SO:0001627 intron_variant D50857 CCDS73222.1 10q26.13-q26.3 2009-10-28 ENSG00000150760 ENSG00000150760 1793 2987 protein-coding gene gene with protein product DOwnstream of CrK 601403 dedicator of cyto-kinesis 1 NA 8657152, 8661160 Standard NM_001380 XM_006717681 NA Approved DOCK180, ced5 uc001ljt.3 Q14185 OTTHUMG00000019249 ENST00000280333.6:c.849+18T>C chr10.hg19:g.128797717T>C NA A9Z1Z5 hg19 0.02 9.746397 AGAxGCT COVERED NOVEL DOCK1-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000050979.2 1 11.134265 KEEP 0 0 0 37 1177 TT 1 1 0 + 11 60 366 0 0 21.504898 284 60 10529 402 ENST00000280333.6 0.037288 1 DOCK1 1793 __UNKNOWN__ __UNKNOWN__ 10 128797809 128797809 __UNKNOWN__ Intron SNP T T C rs41282888 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:128797809T>C ENST00000280333.6 + 9 958 NM_001380.3 NP_001371.1 Q14185 DOCK1_HUMAN dedicator of cytokinesis 1 NA NA apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264) cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634) GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085) NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 72 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115) CTGGGATGCCTGTATACAGGT 0.433 NA T||| 1055 0.210663 0.1278 0.2594 5008 , , NA 18347 0.3224 NA 0.2048 False NA ,,, NA NA NA 2504 0.1789 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D50857 CCDS73222.1 10q26.13-q26.3 2009-10-28 ENSG00000150760 ENSG00000150760 1793 2987 protein-coding gene gene with protein product DOwnstream of CrK 601403 dedicator of cyto-kinesis 1 NA 8657152, 8661160 Standard NM_001380 XM_006717681 NA Approved DOCK180, ced5 uc001ljt.3 Q14185 OTTHUMG00000019249 ENST00000280333.6:c.849+110T>C chr10.hg19:g.128797809T>C NA A9Z1Z5 hg19 0.02 3.072509 GCCxGTA COVERED NOVEL DOCK1-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000050979.2 1 2.407504 KEEP 0 0 0 8 260 TT 0.99257 0.99257 0 + 6 60 193 0 0 11.252696 143 60 5223 166 ENST00000280333.6 0.040268 1 DOCK1 1793 __UNKNOWN__ __UNKNOWN__ 10 128830336 128830336 __UNKNOWN__ Intron SNP G G A rs2275534 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:128830336G>A ENST00000280333.6 + 18 1774 NM_001380.3 NP_001371.1 Q14185 DOCK1_HUMAN dedicator of cytokinesis 1 NA NA apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264) cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634) GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085) NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 72 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115) ATAACAAAGGGTGGCAAAAAT 0.383 NA g||| 1581 0.315695 0.1551 0.415 5008 , , NA 22211 0.371 NA 0.4235 False NA ,,, NA NA NA 2504 0.2945 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D50857 CCDS73222.1 10q26.13-q26.3 2009-10-28 ENSG00000150760 ENSG00000150760 1793 2987 protein-coding gene gene with protein product DOwnstream of CrK 601403 dedicator of cyto-kinesis 1 NA 8657152, 8661160 Standard NM_001380 XM_006717681 NA Approved DOCK180, ced5 uc001ljt.3 Q14185 OTTHUMG00000019249 ENST00000280333.6:c.1666-65G>A chr10.hg19:g.128830336G>A NA A9Z1Z5 hg19 0.02 4.056749 AGGxTGG COVERED NOVEL DOCK1-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000050979.2 2 4.21143 KEEP 0 0 0 14 473 GG 0.995343 0.995328 0 + 6 60 216 0 0 14.481905 99 60 3589 128 ENST00000280333.6 0.057143 0.999984 DOCK1 1793 __UNKNOWN__ __UNKNOWN__ 10 129207514 129207514 __UNKNOWN__ Intron SNP G G A rs2296629 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:129207514G>A ENST00000280333.6 + 42 4310 NM_001380.3 NP_001371.1 Q14185 DOCK1_HUMAN dedicator of cytokinesis 1 NA NA apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264) cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634) GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085) NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 72 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115) TGGGTGTGGTGGGGGGCCTCT 0.483 NA G||| 1446 0.288738 0.1407 0.3761 5008 , , NA 17377 0.4454 NA 0.2416 False NA ,,, NA NA NA 2504 0.3139 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D50857 CCDS73222.1 10q26.13-q26.3 2009-10-28 ENSG00000150760 ENSG00000150760 1793 2987 protein-coding gene gene with protein product DOwnstream of CrK 601403 dedicator of cyto-kinesis 1 NA 8657152, 8661160 Standard NM_001380 XM_006717681 NA Approved DOCK180, ced5 uc001ljt.3 Q14185 OTTHUMG00000019249 ENST00000280333.6:c.4202-63G>A chr10.hg19:g.129207514G>A NA A9Z1Z5 hg19 0.02 11.258945 GGTxGGG COVERED NOVEL DOCK1-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000050979.2 3 23.174445 KEEP 0 0 0 77 2697 GG 1 1 0 + 19 60 682 1 0 46.697154 275 60 10221 456 ENST00000280333.6 0.064626 1 DOCK1 1793 __UNKNOWN__ __UNKNOWN__ 10 129213586 129213586 __UNKNOWN__ Intron SNP C C T rs3736940 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:129213586C>T ENST00000280333.6 + 44 4561 NM_001380.3 NP_001371.1 Q14185 DOCK1_HUMAN dedicator of cytokinesis 1 NA NA apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264) cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634) GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085) NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 72 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115) GCTCATGCCCCGTGGTCACTG 0.527 NA c||| 1536 0.306709 0.1921 0.3919 5008 , , NA 17933 0.4365 NA 0.2535 False NA ,,, NA NA NA 2504 0.3221 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D50857 CCDS73222.1 10q26.13-q26.3 2009-10-28 ENSG00000150760 ENSG00000150760 1793 2987 protein-coding gene gene with protein product DOwnstream of CrK 601403 dedicator of cyto-kinesis 1 NA 8657152, 8661160 Standard NM_001380 XM_006717681 NA Approved DOCK180, ced5 uc001ljt.3 Q14185 OTTHUMG00000019249 ENST00000280333.6:c.4452+84C>T chr10.hg19:g.129213586C>T NA A9Z1Z5 hg19 0.02 4.565449 CCCxGTG COVERED NOVEL DOCK1-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000050979.2 1 7.822687 KEEP 0 0 0 26 846 CC 0.999957 0.999957 0 + 13 60 464 0 0 33.913402 125 60 4123 190 ENST00000280333.6 0.094203 1 DOCK1 1793 __UNKNOWN__ __UNKNOWN__ 10 129216658 129216658 __UNKNOWN__ Silent SNP T T C rs2229600 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:129216658T>C ENST00000280333.6 + 45 4591 c.4482T>C c.(4480-4482)atT>atC p.I1494I NM_001380.3 NP_001371.1 Q14185 DOCK1_HUMAN dedicator of cytokinesis 1 1494 DHR-2. NA apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264) cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634) GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085) NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 72 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115) AGAATGCCATTGAGACCATGC 0.597 NA C||| 1597 0.31889 0.2247 0.4222 5008 , , NA 15912 0.4296 NA 0.2575 False NA ,,, NA NA NA 2504 0.3221 NA NA NA NA 0 C 1055,3329 158,739,1295 52 62 59 4437 -1.7 1 10 dbSNP_98 59 2232,6364 304,1624,2370 no coding-synonymous DOCK1 NM_001380.3 462,2363,3665 CC,CT,TT 25.9656,24.0648,25.3236 1479/1851 129216658 3287,9693 2192 4298 6490 SO:0001819 synonymous_variant D50857 CCDS73222.1 10q26.13-q26.3 2009-10-28 ENSG00000150760 ENSG00000150760 1793 2987 protein-coding gene gene with protein product DOwnstream of CrK 601403 dedicator of cyto-kinesis 1 NA 8657152, 8661160 Standard NM_001380 XM_006717681 NA Approved DOCK180, ced5 uc001ljt.3 Q14185 OTTHUMG00000019249 ENST00000280333.6:c.4482T>C chr10.hg19:g.129216658T>C NA A9Z1Z5 hg19 0.02 10.848009 CATxGAG COVERED NOVEL DOCK1-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000050979.2 1 37.307979 KEEP 0 0 0 124 3788 TT 1 1 0 + 10 60 355 0 0 21.488333 274 60 9921 517 ENST00000280333.6 0.035211 1 DOCK1 1793 __UNKNOWN__ __UNKNOWN__ 10 129237580 129237580 __UNKNOWN__ Intron SNP C C T rs2275052 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:129237580C>T ENST00000280333.6 + 49 5305 NM_001380.3 NP_001371.1 Q14185 DOCK1_HUMAN dedicator of cytokinesis 1 NA NA apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264) cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634) GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085) NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 72 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115) ACGGTGGGCTCTTATTGAACT 0.532 NA C||| 1708 0.341054 0.2859 0.3919 5008 , , NA 17379 0.38 NA 0.2883 False NA ,,, NA NA NA 2504 0.3937 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D50857 CCDS73222.1 10q26.13-q26.3 2009-10-28 ENSG00000150760 ENSG00000150760 1793 2987 protein-coding gene gene with protein product DOwnstream of CrK 601403 dedicator of cyto-kinesis 1 NA 8657152, 8661160 Standard NM_001380 XM_006717681 NA Approved DOCK180, ced5 uc001ljt.3 Q14185 OTTHUMG00000019249 ENST00000280333.6:c.5196+91C>T chr10.hg19:g.129237580C>T NA A9Z1Z5 hg19 0.02 3.572267 GCTxTTA COVERED NOVEL DOCK1-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000050979.2 2 4.213452 KEEP 0 0 0 14 495 CC 0.995343 0.995343 0 + 7 60 225 0 0 14.159487 118 60 4447 141 ENST00000280333.6 0.056 1 PTPRE 5791 __UNKNOWN__ __UNKNOWN__ 10 129869175 129869175 __UNKNOWN__ Intron SNP C C T rs59495679 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:129869175C>T ENST00000254667.3 + 15 1666 PTPRE_ENST00000306042.5_Intron|PTPRE_ENST00000419012.2_Intron NM_006504.4 NP_006495.1 P23469 PTPRE_HUMAN protein tyrosine phosphatase, receptor type, E NA NA negative regulation of insulin receptor signaling pathway (GO:0046627)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of mast cell activation (GO:0033003)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185) cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886) transmembrane receptor protein tyrosine phosphatase activity (GO:0005001) endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 22 all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203) Alendronate(DB00630) TGTAAGGCACCCGTGGCGTGG 0.592 NA C||| 134 0.0267572 0.0 0.0 5008 , , NA 17533 0.1131 NA 0.0119 False NA ,,, NA NA NA 2504 0.0082 NA NA NA Colon(52;977 1184 20575 41685) NA 0 C , 9,4397 15.5+/-35.6 0,9,2194 48 48 48 , 0.1 0 10 dbSNP_129 48 130,8470 66.3+/-128.7 1,128,4171 no intron,intron PTPRE NM_006504.4,NM_130435.3 , 1,137,6365 TT,TC,CC 1.5116,0.2043,1.0687 , , 129869175 139,12867 2203 4300 6503 SO:0001627 intron_variant AF406557 CCDS7657.1, CCDS7658.1 10q26 2011-06-09 ENSG00000132334 ENSG00000132334 5791 Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like 9669 protein-coding gene gene with protein product 600926 NA 8595895 Standard NM_130435 NA Approved PTPE uc001lkb.3 P23469 OTTHUMG00000019254 ENST00000254667.3:c.1387+10C>T chr10.hg19:g.129869175C>T NA Q13345|Q5VWH3|Q5VWH4|Q96KQ6 hg19 CCDS7657.1 0.02 1.745872 CACxCGT COVERED NOVEL PTPRE-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000050990.1 0 4.513572 KEEP 0 0 0 15 511 CC 0.99649 0.99642 0 + 5 60 181 0 0 11.958454 91 60 3245 126 ENST00000254667.3 0.052083 0.99993 MKI67 4288 __UNKNOWN__ __UNKNOWN__ 10 129899922 129899922 __UNKNOWN__ Missense_Mutation SNP T T C rs34750407 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:129899922T>C ENST00000368654.3 - 14 9680 c.9305A>G c.(9304-9306)gAa>gGa p.E3102G MKI67_ENST00000368653.3_Missense_Mutation_p.E2742G NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 3102 NA E -> G (in dbSNP:rs34750407). cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070) chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634) ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022) NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) TATTTGCTGTTCTGCCTCAGT 0.373 NA T||| 436 0.0870607 0.2042 0.0346 5008 , , NA 19634 0.1052 NA 0.0199 False NA ,,, NA NA NA 2504 0.0164 NA NA NA NA 0 T GLY/GLU,GLY/GLU 798,3606 72,654,1476 69 73 72 8225,9305 1.6 0 10 dbSNP_126 72 236,8360 3,230,4065 yes missense,missense MKI67 NM_001145966.1,NM_002417.4 98,98 75,884,5541 CC,CT,TT 2.7455,18.1199,7.9538 possibly-damaging,possibly-damaging 2742/2897,3102/3257 129899922 1034,11966 2202 4298 6500 SO:0001583 missense X65550 CCDS7659.1, CCDS53588.1 10q26.2 2014-06-12 2013-10-10 ENSG00000148773 ENSG00000148773 4288 7107 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 105 176741 antigen identified by monoclonal antibody Ki-67 NA 2571566, 16206250 Standard NM_002417 NM_002417 NA Approved MIB-, PPP1R105 uc001lke.3 P46013 OTTHUMG00000019255 ENST00000368654.3:c.9305A>G chr10.hg19:g.129899922T>C ENSP00000357643:p.Glu3102Gly NA Q5VWH2 hg19 CCDS7659.1 0.02 7.271696 TGTxCTG COVERED 165 0.07554945054945054 76 0.15447154471544716 10 0.027624309392265192 62 0.10839160839160839 17 0.022427440633245383 T 10.17 1.276854 0.23307 0.181199 0.027455 ENSG00000148773 ENST00000368654;ENST00000368653;ENST00000537609 T;T 0.01406 4.97;4.93 3.98 1.57 0.23409 . 0.916850 0.09054 N 0.855383 T 0.00012 0.0000 L 0.27053 0.805 0.80722 P 0.0 D;B 0.54964 0.969;0.104 P;B 0.53313 0.723;0.056 T 0.54268 -0.8319 9 0.46703 T 0.11 . 3.2652 0.06863 0.2033:0.1121:0.0:0.6846 rs34750407 2742;3102 P46013-2;P46013 .;KI67_HUMAN G 3102;2742;3101 ENSP00000357643:E3102G;ENSP00000357642:E2742G ENSP00000357642:E2742G E - 2 0 MKI67 129789912 0.000000 0.05858 0.001000 0.08648 0.005000 0.04900 0.173000 0.16724 0.197000 0.20387 -0.371000 0.07208 GAA NOVEL MKI67-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000050999.1 1 5.115782 KEEP 0 0 0 17 545 TT 0.999366 0.999366 0 - 7 60 267 0 0 17.371982 163 60 5872 229 ENST00000368654.3 0.041176 1 MKI67 4288 __UNKNOWN__ __UNKNOWN__ 10 129901570 129901570 __UNKNOWN__ Missense_Mutation SNP C C T rs11016072 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:129901570C>T ENST00000368654.3 - 13 8909 c.8534G>A c.(8533-8535)cGt>cAt p.R2845H MKI67_ENST00000368653.3_Missense_Mutation_p.R2485H NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 2845 16 X 122 AA approximate repeats. NA R -> H (in dbSNP:rs11016072). cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070) chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634) ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022) NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) TTTCTGGGCACGTGTCCTGGG 0.502 NA C||| 393 0.0784744 0.174 0.0303 5008 , , NA 19749 0.1052 NA 0.0199 False NA ,,, NA NA NA 2504 0.0164 NA NA NA NA 0 C HIS/ARG,HIS/ARG 684,3722 289.2+/-280.3 50,584,1569 177 158 165 7454,8534 -2.3 0 10 dbSNP_120 165 239,8361 96.3+/-158.1 4,231,4065 yes missense,missense MKI67 NM_001145966.1,NM_002417.4 29,29 54,815,5634 TT,TC,CC 2.7791,15.5243,7.0967 probably-damaging,probably-damaging 2485/2897,2845/3257 129901570 923,12083 2203 4300 6503 SO:0001583 missense X65550 CCDS7659.1, CCDS53588.1 10q26.2 2014-06-12 2013-10-10 ENSG00000148773 ENSG00000148773 4288 7107 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 105 176741 antigen identified by monoclonal antibody Ki-67 NA 2571566, 16206250 Standard NM_002417 NM_002417 NA Approved MIB-, PPP1R105 uc001lke.3 P46013 OTTHUMG00000019255 ENST00000368654.3:c.8534G>A chr10.hg19:g.129901570C>T ENSP00000357643:p.Arg2845His NA Q5VWH2 hg19 CCDS7659.1 0.02 11.42402 GCAxGTG COVERED 151 0.06913919413919414 63 0.12804878048780488 9 0.024861878453038673 62 0.10839160839160839 17 0.022427440633245383 C 15.02 2.708856 0.48517 0.155243 0.027791 ENSG00000148773 ENST00000368654;ENST00000368653;ENST00000537609 T;T 0.02345 4.33;4.33 4.55 -2.34 0.06704 . . . . . T 0.00012 0.0000 L 0.34521 1.04 0.80722 P 0.0 P;P;P 0.50528 0.809;0.914;0.936 B;P;P 0.56278 0.337;0.548;0.795 T 0.43925 -0.9361 8 0.45353 T 0.12 . 0.9621 0.01397 0.2304:0.3759:0.1712:0.2225 rs11016072;rs11016072 2844;2485;2845 F5H4V4;P46013-2;P46013 .;.;KI67_HUMAN H 2845;2485;2844 ENSP00000357643:R2845H;ENSP00000357642:R2485H ENSP00000357642:R2485H R - 2 0 MKI67 129791560 0.000000 0.05858 0.000000 0.03702 0.002000 0.02628 -0.229000 0.09098 -0.119000 0.11830 0.655000 0.94253 CGT NOVEL MKI67-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000050999.1 4 9.931777 KEEP 0 0 0 33 1132 CC 0.999998 0.999998 0 - 19 60 719 0 0 50.277091 279 60 9712 394 ENST00000368654.3 0.063758 1 MKI67 4288 __UNKNOWN__ __UNKNOWN__ 10 129903094 129903094 __UNKNOWN__ Missense_Mutation SNP G G T rs7083622 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:129903094G>T ENST00000368654.3 - 13 7385 c.7010C>A c.(7009-7011)aCt>aAt p.T2337N MKI67_ENST00000368653.3_Missense_Mutation_p.T1977N NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 2337 16 X 122 AA approximate repeats. NA T -> N (in dbSNP:rs7083622). cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070) chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634) ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022) NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) TATTTTGGTAGTTTTCTCATC 0.522 NA G||| 394 0.0786741 0.174 0.0303 5008 , , NA 19317 0.1062 NA 0.0199 False NA ,,, NA NA NA 2504 0.0164 NA NA NA NA 0 G ASN/THR,ASN/THR 681,3725 288.1+/-279.7 49,583,1571 297 312 307 5930,7010 -2.5 0 10 dbSNP_116 307 238,8362 96.1+/-157.9 4,230,4066 yes missense,missense MKI67 NM_001145966.1,NM_002417.4 65,65 53,813,5637 TT,TG,GG 2.7674,15.4562,7.066 possibly-damaging,possibly-damaging 1977/2897,2337/3257 129903094 919,12087 2203 4300 6503 SO:0001583 missense X65550 CCDS7659.1, CCDS53588.1 10q26.2 2014-06-12 2013-10-10 ENSG00000148773 ENSG00000148773 4288 7107 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 105 176741 antigen identified by monoclonal antibody Ki-67 NA 2571566, 16206250 Standard NM_002417 NM_002417 NA Approved MIB-, PPP1R105 uc001lke.3 P46013 OTTHUMG00000019255 ENST00000368654.3:c.7010C>A chr10.hg19:g.129903094G>T ENSP00000357643:p.Thr2337Asn NA Q5VWH2 hg19 CCDS7659.1 0.02 15.22208 GTAxTTT COVERED 151 0.06913919413919414 63 0.12804878048780488 9 0.024861878453038673 62 0.10839160839160839 17 0.022427440633245383 G 10.74 1.435459 0.25813 0.154562 0.027674 ENSG00000148773 ENST00000368654;ENST00000368653;ENST00000537609 T;T 0.02421 4.3;4.3 3.04 -2.55 0.06288 . 1.900540 0.03001 N 0.148124 T 0.00039 0.0001 L 0.61218 1.895 0.80722 P 0.0 D;D;D 0.69078 0.981;0.996;0.997 P;D;D 0.67382 0.743;0.95;0.951 T 0.41448 -0.9508 9 0.13853 T 0.58 . 4.7506 0.13059 0.2897:0.3091:0.4011:0.0 rs7083622;rs52821742;rs7083622 2336;1977;2337 F5H4V4;P46013-2;P46013 .;.;KI67_HUMAN N 2337;1977;2336 ENSP00000357643:T2337N;ENSP00000357642:T1977N ENSP00000357642:T1977N T - 2 0 MKI67 129793084 0.000000 0.05858 0.000000 0.03702 0.002000 0.02628 -0.612000 0.05616 -0.600000 0.05790 -0.305000 0.09177 ACT NOVEL MKI67-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000050999.1 2 8.728174 KEEP 0 0 0 29 1034 GG 0.999997 0.999997 0 - 20 60 708 0 0 46.716851 344 60 12888 443 ENST00000368654.3 0.054945 1 MGMT 4255 __UNKNOWN__ __UNKNOWN__ 10 131565509 131565509 __UNKNOWN__ 3'UTR SNP G G A rs7896488 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:131565509G>A ENST00000306010.7 + 0 997 NM_002412.3 NP_002403.2 P16455 MGMT_HUMAN O-6-methylguanine-DNA methyltransferase NA NA cellular response to ionizing radiation (GO:0071479)|cellular response to organic cyclic compound (GO:0071407)|cellular response to oxidative stress (GO:0034599)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA ligation (GO:0006266)|DNA methylation (GO:0006306)|DNA repair (GO:0006281)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to toxic substance (GO:0009636) membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methylated-DNA-[protein]-cysteine S-methyltransferase activity (GO:0003908)|methyltransferase activity (GO:0008168) breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 10 all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167) OV - Ovarian serous cystadenocarcinoma(35;0.00291) L-Cysteine(DB00151) AAGTGAGTGTGGAAGGCCTGG 0.577 NA Direct reversal of damage G||| 585 0.116813 0.177 0.0778 5008 , , NA 20402 0.2133 NA 0.0268 False NA ,,, NA NA NA 2504 0.0562 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M29971 CCDS7660.2 10q26 2005-10-06 ENSG00000170430 ENSG00000170430 4255 7059 protein-coding gene gene with protein product 156569 NA Standard NM_002412 NM_002412 NA Approved uc001lkh.2 P16455 OTTHUMG00000019261 ENST00000306010.7:c.*248G>A chr10.hg19:g.131565509G>A NA Q5VY78 hg19 CCDS7660.2 0.02 6.638923 TGTxGAA COVERED NOVEL MGMT-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000051009.3 2 4.514054 KEEP 0 0 0 15 507 GG 0.99649 0.99649 0 + 13 60 441 0 0 31.07917 138 60 5132 187 ENST00000306010.7 0.086093 1 EBF3 253738 __UNKNOWN__ __UNKNOWN__ 10 131755493 131755493 __UNKNOWN__ Intron SNP G G C rs117936192 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:131755493G>C ENST00000355311.5 - 6 627 EBF3_ENST00000368648.3_Intron Q9H4W6 COE3_HUMAN early B-cell factor 3 NA NA multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 44 all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764) OV - Ovarian serous cystadenocarcinoma(35;0.00513) CTGCGGTTTTGTTTTGAAAAA 0.448 NA G||| 84 0.0167732 0.0068 0.0187 5008 , , NA 18894 0.0079 NA 0.0268 False NA ,,, NA NA NA 2504 0.0276 NA NA NA NA 0 G 41,4365 43.8+/-77.6 0,41,2162 109 101 104 1.8 0 10 dbSNP_132 104 260,8340 101.6+/-162.9 5,250,4045 no intron EBF3 NM_001005463.2 5,291,6207 CC,CG,GG 3.0233,0.9305,2.3143 131755493 301,12705 2203 4300 6503 SO:0001627 intron_variant CCDS31314.1 10q26.3 2007-03-30 ENSG00000108001 ENSG00000108001 253738 19087 protein-coding gene gene with protein product 607407 NA 12355068 Standard NM_001005463 NM_001005463 NA Approved COE3, DKFZp667B0210 uc001lki.2 Q9H4W6 OTTHUMG00000019265 ENST00000355311.5:c.554+28C>G chr10.hg19:g.131755493G>C NA A0AUY1|Q5T6H9|Q9H4W5 hg19 0.02 9.181967 TTTxTTT COVERED NOVEL EBF3-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000051015.2 1 13.243464 KEEP 0 0 0 44 1570 GG 1 1 0 - 8 60 291 0 0 18.116407 205 60 7747 288 ENST00000355311.5 0.037559 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 131762205 131762205 __UNKNOWN__ IGR SNP G G A rs374676229 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:131762205G>A NA NA EBF3 (100 upstream) : LINC00959 (102432 downstream) NA NA NA TACACCAGCGGCCGGGCGCTC 0.806 NA G||| 99 0.0197684 0.0076 0.0173 5008 , , NA 5668 0.0089 NA 0.0219 False NA ,,, NA NA NA 2504 0.047 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.131762205G>A NA hg19 0.02 1.758355 GCGxCCG COVERED NOVEL 0 1 3.009698 KEEP 0 0 0 10 356 GG 0.992708 0.990279 0 6 60 190 0 0 12.907653 66 60 2367 86 0.083333 0.997553 PPP2R2D 55844 __UNKNOWN__ __UNKNOWN__ 10 133769568 133769568 __UNKNOWN__ 3'UTR SNP G G A rs11146336 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:133769568G>A ENST00000422256.2 + 0 1263 Q66LE6 2ABD_HUMAN protein phosphatase 2, regulatory subunit B, delta NA NA exit from mitosis (GO:0010458)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|protein phosphatase type 2A complex (GO:0000159) protein phosphatase type 2A regulator activity (GO:0008601) endometrium(3)|large_intestine(3)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 13 all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21) GAACAGTGACGCACCTGCTAC 0.567 NA G||| 848 0.169329 0.087 0.1297 5008 , , NA 16914 0.3601 NA 0.0775 False NA ,,, NA NA NA 2504 0.2065 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF220046 CCDS73224.1 10q26.3 2013-01-10 2010-06-18 ENSG00000175470 ENSG00000175470 55844 Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits, WD repeat domain containing 23732 protein-coding gene gene with protein product PP2A subunit B isoform delta 613992 protein phosphatase 2, regulatory subunit B, delta isoform NA 10819331 Standard NM_018461 XM_005277927 NA Approved MDS026 uc001lks.3 Q66LE6 OTTHUMG00000019277 ENST00000422256.2:c.*370G>A chr10.hg19:g.133769568G>A NA A8KAK0|Q5SQJ2|Q9P1Y7 hg19 0.02 5.057871 GACxCAC COVERED NOVEL PPP2R2D-201 KNOWN basic|appris_principal protein_coding NA protein_coding 3 16.853074 KEEP 0 0 0 56 1909 GG 1 1 0 + 8 60 263 0 0 15.636779 187 60 6612 293 ENST00000422256.2 0.041026 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 133772492 133772492 __UNKNOWN__ IGR SNP A A C rs367863245 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:133772492A>C NA NA PPP2R2D (2473 upstream) : BNIP3 (9085 downstream) NA NA NA CCGCCATCCCACTGTGGAGAT 0.602 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.133772492A>C NA hg19 0.02 6.527619 CCCxCTG COVERED NOVEL 0 47 14.900429 KEEP 36 3 48 67 2015 AA 1 1 0 13 36 461 1 0 32.107455 165 47 5549 394 0.073034 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 133772521 133772521 __UNKNOWN__ IGR SNP C C G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:133772521C>G NA NA PPP2R2D (2502 upstream) : BNIP3 (9056 downstream) NA NA NA GTGCTGATCCCCCATCCCCCT 0.592 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.133772521C>G NA hg19 0.02 8.437365 TCCxCCA COVERED NOVEL 0 40 11.780563 KEEP 38 3 93 72 2514 CC 1 1 0 21 40 637 0 0 46.079348 150 50 5378 423 0.122807 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 133918155 133918155 __UNKNOWN__ IGR SNP G G A rs79262691 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:133918155G>A NA NA BNIP3 (122720 upstream) : JAKMIP3 (19 downstream) NA NA NA GCTGCTCACCGCGGTGTGCTT 0.667 NA G||| 723 0.144369 0.0862 0.0836 5008 , , NA 15034 0.3006 NA 0.0726 False NA ,,, NA NA NA 2504 0.1789 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.133918155G>A NA hg19 0.02 6.328776 ACCxCGG COVERED NOVEL 0 1 9.329623 KEEP 0 0 0 31 1070 GG 0.999997 0.999997 0 14 60 475 0 0 33.017927 161 60 5610 260 0.08 1 JAKMIP3 282973 __UNKNOWN__ __UNKNOWN__ 10 133951718 133951718 __UNKNOWN__ Intron SNP G G A rs570089524|rs2637646 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:133951718G>A ENST00000298622.4 + 8 1482 NM_001105521.2 NP_001098991.1 Q5VZ66 JKIP3_HUMAN Janus kinase and microtubule interacting protein 3 NA NA Golgi apparatus (GO:0005794) breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 31 all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224) CGGAGAGTACGCCGGGTGTGT 0.617 NA G||| 1353 0.270168 0.2776 0.2651 5008 , , NA 18783 0.3204 NA 0.1372 False NA ,,, NA NA NA 2504 0.3487 NA NA NA NA 0 932,3316 122,688,1314 35 36 36 -0.6 0 10 dbSNP_100 36 1171,7287 96,979,3154 no intron JAKMIP3 NM_001105521.2 218,1667,4468 AA,AG,GG 13.8449,21.9397,16.5512 133951718 2103,10603 2124 4229 6353 SO:0001627 intron_variant AL832756 CCDS44494.1 10q26.3 2009-04-23 2009-04-23 2008-01-28 ENSG00000188385 ENSG00000188385 282973 23523 protein-coding gene gene with protein product neuroendocrine long coiled-coil 2 611198 chromosome 10 open reading frame 39, chromosome 10 open reading frame 14 C10orf39, C10orf14 NA 15277531, 17572408 Standard NM_194303 NM_001105521 NA Approved FLJ37857, NECC2, KIAA4091, bA140A10.5 uc001lkx.4 Q5VZ66 OTTHUMG00000150167 ENST00000298622.4:c.1344+36G>A chr10.hg19:g.133951718G>A NA A6PW00|Q69YM6|Q6ZT29 hg19 CCDS44494.1 0.02 1.702712 TACxCCG COVERED NOVEL JAKMIP3-001 KNOWN NMD_exception|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000051049.3 1 4.815424 KEEP 0 0 0 16 557 GG 0.997832 0.992926 0 + 5 60 140 0 0 8.963777 62 60 2253 93 ENST00000298622.4 0.074627 0.995084 JAKMIP3 282973 __UNKNOWN__ __UNKNOWN__ 10 133954011 133954011 __UNKNOWN__ Silent SNP C C T rs2818387 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:133954011C>T ENST00000298622.4 + 9 1539 c.1401C>T c.(1399-1401)gaC>gaT p.D467D NM_001105521.2 NP_001098991.1 Q5VZ66 JKIP3_HUMAN Janus kinase and microtubule interacting protein 3 467 NA Golgi apparatus (GO:0005794) breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 31 all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224) TGGAATCCGACGGCTCCTCCG 0.592 NA C||| 2574 0.513978 0.4584 0.5793 5008 , , NA 13772 0.5883 NA 0.4841 False NA ,,, NA NA NA 2504 0.4969 NA NA NA NA 0 C 1813,2195 417,979,608 57 66 63 1401 -5.4 0 10 dbSNP_100 63 4080,4234 995,2090,1072 yes coding-synonymous JAKMIP3 NM_001105521.2 1412,3069,1680 TT,TC,CC 49.0739,45.2345,47.825 467/845 133954011 5893,6429 2004 4157 6161 SO:0001819 synonymous_variant AL832756 CCDS44494.1 10q26.3 2009-04-23 2009-04-23 2008-01-28 ENSG00000188385 ENSG00000188385 282973 23523 protein-coding gene gene with protein product neuroendocrine long coiled-coil 2 611198 chromosome 10 open reading frame 39, chromosome 10 open reading frame 14 C10orf39, C10orf14 NA 15277531, 17572408 Standard NM_194303 NM_001105521 NA Approved FLJ37857, NECC2, KIAA4091, bA140A10.5 uc001lkx.4 Q5VZ66 OTTHUMG00000150167 ENST00000298622.4:c.1401C>T chr10.hg19:g.133954011C>T NA A6PW00|Q69YM6|Q6ZT29 hg19 CCDS44494.1 0.02 6.843256 CGAxGGC COVERED NOVEL JAKMIP3-001 KNOWN NMD_exception|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000051049.3 2 13.240771 KEEP 0 0 0 44 1459 CC 1 1 0 + 14 60 530 0 0 37.781841 182 60 6076 313 ENST00000298622.4 0.071429 1 JAKMIP3 282973 __UNKNOWN__ __UNKNOWN__ 10 133981363 133981363 __UNKNOWN__ Intron SNP C C T rs11146226 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:133981363C>T ENST00000298622.4 + 22 2695 JAKMIP3_ENST00000477275.1_Intron NM_001105521.2 NP_001098991.1 Q5VZ66 JKIP3_HUMAN Janus kinase and microtubule interacting protein 3 NA NA Golgi apparatus (GO:0005794) breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 31 all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224) gcccctcacccctcggccctc 0.692 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL832756 CCDS44494.1 10q26.3 2009-04-23 2009-04-23 2008-01-28 ENSG00000188385 ENSG00000188385 282973 23523 protein-coding gene gene with protein product neuroendocrine long coiled-coil 2 611198 chromosome 10 open reading frame 39, chromosome 10 open reading frame 14 C10orf39, C10orf14 NA 15277531, 17572408 Standard NM_194303 NM_001105521 NA Approved FLJ37857, NECC2, KIAA4091, bA140A10.5 uc001lkx.4 Q5VZ66 OTTHUMG00000150167 ENST00000298622.4:c.2533-94C>T chr10.hg19:g.133981363C>T NA A6PW00|Q69YM6|Q6ZT29 hg19 CCDS44494.1 0.02 -0.297279 ACCxCTC COVERED NOVEL JAKMIP3-001 KNOWN NMD_exception|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000051049.3 0 2.407754 KEEP 0 0 0 8 273 CC 0.99257 0.775257 0 + 7 60 203 0 0 16.163341 27 70 973 46 ENST00000298622.4 0.205882 0.78106 STK32C 282974 __UNKNOWN__ __UNKNOWN__ 10 134038715 134038715 __UNKNOWN__ Intron SNP A A G rs902629 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:134038715A>G ENST00000368622.1 - 7 907 STK32C_ENST00000368625.4_Intron serine/threonine kinase 32C NA NA breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1) 23 all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203) Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222) AGCCAAGCCCAGGGGCTGCAG 0.682 NA G||| 4517 0.901957 0.9455 0.9092 5008 , , NA 13821 0.9643 NA 0.8231 False NA ,,, NA NA NA 2504 0.8548 NA NA NA NA 0 G 4075,309 1891,293,8 20 22 21 -6.5 0 10 dbSNP_86 21 7182,1404 3010,1162,121 no intron STK32C NM_173575.2 4901,1455,129 GG,GA,AA 16.3522,7.0484,13.2074 134038715 11257,1713 2192 4293 6485 SO:0001627 intron_variant AK057849 CCDS7666.1 10q26.3 2004-07-22 ENSG00000165752 ENSG00000165752 282974 21332 protein-coding gene gene with protein product NA Standard NM_173575 NM_173575 NA Approved PKE, MGC23665, YANK3 uc001lle.1 Q86UX6 OTTHUMG00000019285 ENST00000368622.1:c.525+21T>C chr10.hg19:g.134038715A>G NA hg19 0.02 3.467778 CCCxGGG COVERED NOVEL STK32C-001 KNOWN basic protein_coding NA protein_coding OTTHUMT00000051068.2 0 3.912084 KEEP 0 0 0 13 419 AA 0.994391 0.994391 0 - 7 60 230 0 0 14.32807 131 60 4669 171 ENST00000368622.1 0.050725 1 STK32C 282974 __UNKNOWN__ __UNKNOWN__ 10 134040482 134040482 __UNKNOWN__ Intron SNP C C T rs77455354 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:134040482C>T ENST00000368622.1 - 4 501 STK32C_ENST00000368625.4_Intron serine/threonine kinase 32C NA NA breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1) 23 all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203) Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222) CCTGTGGGCACCGATGGAAGG 0.632 NA C||| 90 0.0179712 0.003 0.0014 5008 , , NA 19536 0.0774 NA 0.0 False NA ,,, NA NA NA 2504 0.0072 NA NA NA NA 0 C 5,4401 9.9+/-24.2 0,5,2198 131 81 98 -1.6 0 10 dbSNP_131 98 3,8597 3.0+/-9.4 0,3,4297 no intron STK32C NM_173575.2 0,8,6495 TT,TC,CC 0.0349,0.1135,0.0615 134040482 8,12998 2203 4300 6503 SO:0001627 intron_variant AK057849 CCDS7666.1 10q26.3 2004-07-22 ENSG00000165752 ENSG00000165752 282974 21332 protein-coding gene gene with protein product NA Standard NM_173575 NM_173575 NA Approved PKE, MGC23665, YANK3 uc001lle.1 Q86UX6 OTTHUMG00000019285 ENST00000368622.1:c.120-10G>A chr10.hg19:g.134040482C>T NA hg19 0.02 3.779098 GCAxCGA COVERED NOVEL STK32C-001 KNOWN basic protein_coding NA protein_coding OTTHUMT00000051068.2 0 2.708463 KEEP 0 0 0 9 298 CC 0.99254 0.99254 0 - 8 60 259 0 0 16.499803 140 60 4917 166 ENST00000368622.1 0.054054 1 INPP5A 3632 __UNKNOWN__ __UNKNOWN__ 10 134459388 134459388 __UNKNOWN__ Missense_Mutation SNP A A G rs1133400 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:134459388A>G ENST00000368594.3 + 3 411 c.134A>G c.(133-135)aAg>aGg p.K45R INPP5A_ENST00000368593.3_Missense_Mutation_p.K45R NM_005539.3 NP_005530.3 Q14642 I5P1_HUMAN inositol polyphosphate-5-phosphatase, 40kDa 45 NA K -> R (in dbSNP:rs1133400). inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|small molecule metabolic process (GO:0044281) extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886) inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|PH domain binding (GO:0042731) cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326) CACACACACAAGCCGCACTTC 0.607 NA A||| 1063 0.21226 0.1014 0.2565 5008 , , NA 17008 0.3016 NA 0.2137 False NA ,,, NA NA NA 2504 0.2372 NA NA NA Pancreas(63;823 1267 11107 20380 51626) NA 0 A ARG/LYS 475,3931 221.0+/-238.3 27,421,1755 139 84 103 134 -0.9 1 10 dbSNP_86 103 1745,6855 311.6+/-310.4 176,1393,2731 yes missense INPP5A NM_005539.3 26 203,1814,4486 GG,GA,AA 20.2907,10.7808,17.069 benign 45/413 134459388 2220,10786 2203 4300 6503 SO:0001583 missense X77567 CCDS7669.2 10q26.3 2008-08-07 2002-08-29 ENSG00000068383 ENSG00000068383 3632 3.1.3.56 6076 protein-coding gene gene with protein product CTCL tumor antigen HD-CL-02, 43 kDa inositol polyphosphate 5-phophatase, inositol polyphosphate 5-phophatase, 40kDa, InsP3 5-phosphatase, type I inositol-1,4,5-trisphosphate 5-phosphatase 600106 inositol polyphosphate-5-phosphatase, 40kD NA 8013665 Standard NM_005539 NM_005539 NA Approved 5PTASE uc001llp.3 Q14642 OTTHUMG00000019293 ENST00000368594.3:c.134A>G chr10.hg19:g.134459388A>G ENSP00000357583:p.Lys45Arg NA D3DXI3|Q14640|Q5JSF1 hg19 CCDS7669.2 0.02 5.013288 ACAxGCC COVERED 505 0.23122710622710624 58 0.11788617886178862 98 0.27071823204419887 180 0.3146853146853147 169 0.22295514511873352 A 10.69 1.422128 0.25639 0.107808 0.202907 ENSG00000068383 ENST00000368594;ENST00000368593;ENST00000416326;ENST00000368595;ENST00000451873 T;T 0.42900 0.96;0.96 4.31 -0.882 0.10604 Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1); 0.284900 0.37053 N 0.002266 T 0.00012 0.0000 N 0.25201 0.72 0.25964 P 0.9825875 B;B 0.09022 0.0;0.002 B;B 0.06405 0.001;0.002 T 0.43393 -0.9394 9 0.17832 T 0.49 -17.8059 8.6704 0.34147 0.6762:0.0:0.3238:0.0 rs1133400;rs3195167;rs3818511;rs11545720;rs59704452;rs1133400 45;45 Q14642;Q5T1B5 I5P1_HUMAN;. R 45;45;45;45;41 ENSP00000357583:K45R;ENSP00000357582:K45R ENSP00000357582:K45R K + 2 0 INPP5A 134309378 1.000000 0.71417 0.988000 0.46212 0.976000 0.68499 1.210000 0.32370 -0.258000 0.09446 0.533000 0.62120 AAG NOVEL INPP5A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000051085.1 2 4.549322 KEEP 0 1 34 27 867 AA 0.999997 0.999996 0 + 8 60 297 0 0 20.733169 113 60 4115 186 ENST00000368594.3 0.066116 0.999999 TTC40 0 __UNKNOWN__ __UNKNOWN__ 10 134646988 134646988 __UNKNOWN__ Missense_Mutation SNP C C T rs4880433 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:134646988C>T ENST00000368586.5 - 50 7091 c.6991G>A c.(6991-6993)Gca>Aca p.A2331T TTC40_ENST00000263170.5_Missense_Mutation_p.A492T NM_001200049.2 NP_001186978.2 NA NA breast(1)|endometrium(5)|lung(19)|urinary_tract(3) 28 TGTCTGTCTGCGACCAGGACT 0.547 NA C||| 1602 0.319888 0.1399 0.513 5008 , , NA 15265 0.2788 NA 0.3986 False NA ,,, NA NA NA 2504 0.3875 NA NA NA NA 0 C THR/ALA 771,3635 309.7+/-291.2 66,639,1498 117 117 117 1927 1.4 0 10 dbSNP_111 117 3461,5139 507.9+/-376.9 715,2031,1554 yes missense C10orf92 NM_001200049.1 58 781,2670,3052 TT,TC,CC 40.2442,17.4989,32.5388 benign 643/1028 134646988 4232,8774 2203 4300 6503 SO:0001583 missense NA NA NA NA ENST00000368586.5:c.6991G>A chr10.hg19:g.134646988C>T ENSP00000357575:p.Ala2331Thr NA hg19 CCDS58101.1 0.02 6.085691 CTGxGAC COVERED 693 0.3173076923076923 68 0.13821138211382114 172 0.47513812154696133 155 0.270979020979021 298 0.39313984168865435 C 9.644 1.139755 0.21205 0.174989 0.402442 ENSG00000171811 ENST00000368586;ENST00000263170 T;T 0.32023 1.47;1.47 4.32 1.39 0.22231 . 1.053680 0.07597 N 0.922951 T 0.00012 0.0000 L 0.28115 0.83 0.80722 P 0.0 B 0.23490 0.086 B 0.12837 0.008 T 0.46898 -0.9158 9 0.62326 D 0.03 . 7.7247 0.28753 0.0:0.7151:0.0:0.2849 rs4880433;rs17853281;rs52791356;rs56954370;rs4880433 492 Q8IYW2 CJ092_HUMAN T 2331;492 ENSP00000357575:A2331T;ENSP00000263170:A492T ENSP00000263170:A492T A - 1 0 C10orf93 134496978 0.000000 0.05858 0.001000 0.08648 0.005000 0.04900 0.199000 0.17237 0.305000 0.22832 -0.143000 0.13931 GCA NOVEL TTC40-001 PUTATIVE basic|appris_candidate_longest|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000051095.3 0 5.416612 KEEP 0 0 0 18 612 CC 0.999859 0.999859 0 - 7 60 250 0 0 15.496476 173 60 5846 232 ENST00000368586.5 0.038889 1 TTC40 0 __UNKNOWN__ __UNKNOWN__ 10 134672798 134672798 __UNKNOWN__ Intron SNP G G T rs2001324 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:134672798G>T ENST00000368586.5 - 38 5299 NM_001200049.2 NP_001186978.2 NA NA breast(1)|endometrium(5)|lung(19)|urinary_tract(3) 28 CCCCAGGGCCGCGTCAGGGCT 0.617 NA g||| 1279 0.255391 0.0242 0.4669 5008 , , NA 15554 0.2659 NA 0.3231 False NA ,,, NA NA NA 2504 0.3374 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000368586.5:c.5199-47C>A chr10.hg19:g.134672798G>T NA hg19 CCDS58101.1 0.02 3.919163 GCCxCGT COVERED NOVEL TTC40-001 PUTATIVE basic|appris_candidate_longest|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000051095.3 0 2.407793 KEEP 0 0 0 8 277 GG 0.99257 0.992569 0 - 6 60 212 0 0 13.71053 115 60 4032 136 ENST00000368586.5 0.049587 0.999999 TTC40 0 __UNKNOWN__ __UNKNOWN__ 10 134681093 134681093 __UNKNOWN__ Intron SNP C C T rs4880454 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:134681093C>T ENST00000368586.5 - 34 4711 NM_001200049.2 NP_001186978.2 NA NA breast(1)|endometrium(5)|lung(19)|urinary_tract(3) 28 gaaacgcaaacgaaaacagcc 0.443 NA C||| 1280 0.255591 0.0242 0.4697 5008 , , NA 17810 0.2649 NA 0.3201 False NA ,,, NA NA NA 2504 0.3405 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000368586.5:c.4611-82G>A chr10.hg19:g.134681093C>T NA hg19 CCDS58101.1 0.02 4.232937 AAAxGAA COVERED NOVEL TTC40-001 PUTATIVE basic|appris_candidate_longest|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000051095.3 1 6.921286 KEEP 0 0 0 23 770 CC 0.999892 0.99989 0 - 6 60 214 0 0 13.947752 113 60 3633 163 ENST00000368586.5 0.05042 0.999998 TTC40 0 __UNKNOWN__ __UNKNOWN__ 10 134682855 134682855 __UNKNOWN__ Silent SNP C C T rs7908950 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:134682855C>T ENST00000368586.5 - 33 4633 c.4533G>A c.(4531-4533)gaG>gaA p.E1511E NM_001200049.2 NP_001186978.2 NA NA breast(1)|endometrium(5)|lung(19)|urinary_tract(3) 28 TCAGCTTCAGCTCGGAGCACG 0.657 NA C||| 1568 0.313099 0.1256 0.5173 5008 , , NA 14842 0.2649 NA 0.3877 False NA ,,, NA NA NA 2504 0.3947 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001819 synonymous_variant NA NA NA NA ENST00000368586.5:c.4533G>A chr10.hg19:g.134682855C>T NA hg19 CCDS58101.1 0.02 1.607845 CAGxTCG COVERED NOVEL TTC40-001 PUTATIVE basic|appris_candidate_longest|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000051095.3 1 7.223004 KEEP 0 0 0 24 854 CC 0.999909 0.999713 0 - 4 60 133 0 0 8.127311 85 60 3165 131 ENST00000368586.5 0.044944 0.999804 TTC40 0 __UNKNOWN__ __UNKNOWN__ 10 134706077 134706077 __UNKNOWN__ Intron SNP C C T rs7076681 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:134706077C>T ENST00000368586.5 - 25 3320 TTC40_ENST00000368582.2_Intron NM_001200049.2 NP_001186978.2 NA NA breast(1)|endometrium(5)|lung(19)|urinary_tract(3) 28 aatgttgtaccggccactatt 0.383 NA C||| 1284 0.25639 0.0499 0.4856 5008 , , NA 18641 0.2123 NA 0.334 False NA ,,, NA NA NA 2504 0.3384 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000368586.5:c.3220-156G>A chr10.hg19:g.134706077C>T NA hg19 CCDS58101.1 0.02 8.704068 TACxGGC COVERED NOVEL TTC40-001 PUTATIVE basic|appris_candidate_longest|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000051095.3 0 3.309557 KEEP 0 0 0 11 339 CC 0.993072 0.993072 0 - 10 60 374 0 0 24.490421 211 60 6908 239 ENST00000368586.5 0.045249 1 TTC40 0 __UNKNOWN__ __UNKNOWN__ 10 134722022 134722022 __UNKNOWN__ Silent SNP A A G rs7075277 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:134722022A>G ENST00000368586.5 - 22 2974 c.2874T>C c.(2872-2874)tgT>tgC p.C958C TTC40_ENST00000368582.2_Silent_p.C958C NM_001200049.2 NP_001186978.2 NA NA breast(1)|endometrium(5)|lung(19)|urinary_tract(3) 28 CCCTGTGAGCACAGGCCATGG 0.597 NA G||| 2910 0.58107 0.8116 0.6599 5008 , , NA 19479 0.2927 NA 0.495 False NA ,,, NA NA NA 2504 0.5992 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001819 synonymous_variant NA NA NA NA ENST00000368586.5:c.2874T>C chr10.hg19:g.134722022A>G NA hg19 CCDS58101.1 0.02 7.087181 AGCxCAG COVERED NOVEL TTC40-001 PUTATIVE basic|appris_candidate_longest|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000051095.3 0 8.124125 KEEP 0 0 0 27 852 AA 0.999988 0.999988 0 - 10 60 362 0 0 23.945801 181 60 6605 268 ENST00000368586.5 0.052356 1 TTC40 0 __UNKNOWN__ __UNKNOWN__ 10 134726335 134726335 __UNKNOWN__ Intron SNP T T C rs12254100 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:134726335T>C ENST00000368586.5 - 19 2434 TTC40_ENST00000368582.2_Intron NM_001200049.2 NP_001186978.2 NA NA breast(1)|endometrium(5)|lung(19)|urinary_tract(3) 28 CTGGGAGACATGCTTGTCAGA 0.637 NA C||| 1926 0.384585 0.3873 0.5403 5008 , , NA 19234 0.2708 NA 0.3777 False NA ,,, NA NA NA 2504 0.3947 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000368586.5:c.2334-11A>G chr10.hg19:g.134726335T>C NA hg19 CCDS58101.1 0.02 3.005222 ACAxGCT COVERED NOVEL TTC40-001 PUTATIVE basic|appris_candidate_longest|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000051095.3 2 3.309164 KEEP 0 0 0 11 328 TT 0.993072 0.993072 0 - 7 60 203 0 0 11.736316 127 60 4519 155 ENST00000368586.5 0.052239 1 TTC40 0 __UNKNOWN__ __UNKNOWN__ 10 134726841 134726841 __UNKNOWN__ Intron SNP G G T rs61863089 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:134726841G>T ENST00000368586.5 - 18 2221 TTC40_ENST00000368582.2_Intron NM_001200049.2 NP_001186978.2 NA NA breast(1)|endometrium(5)|lung(19)|urinary_tract(3) 28 tgcggggcctgttaggaacca 0.652 NA G||| 1129 0.225439 0.0847 0.3127 5008 , , NA 14158 0.1915 NA 0.3002 False NA ,,, NA NA NA 2504 0.3119 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000368586.5:c.2121-79C>A chr10.hg19:g.134726841G>T NA hg19 CCDS58101.1 0.02 4.27015 CCTxTTA COVERED NOVEL TTC40-001 PUTATIVE basic|appris_candidate_longest|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000051095.3 0 4.514743 KEEP 0 0 0 15 533 GG 0.99649 0.99649 0 - 5 60 185 0 0 11.755273 121 60 4398 152 ENST00000368586.5 0.039683 1 TTC40 0 __UNKNOWN__ __UNKNOWN__ 10 134735672 134735672 __UNKNOWN__ Silent SNP A A G rs7915371 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:134735672A>G ENST00000368586.5 - 13 1642 c.1542T>C c.(1540-1542)aaT>aaC p.N514N TTC40_ENST00000368582.2_Silent_p.N514N NM_001200049.2 NP_001186978.2 NA NA breast(1)|endometrium(5)|lung(19)|urinary_tract(3) 28 CCAGGCCTGCATTCACCAGGA 0.572 NA G||| 2678 0.534744 0.6558 0.6081 5008 , , NA 18661 0.3542 NA 0.4712 False NA ,,, NA NA NA 2504 0.5706 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001819 synonymous_variant NA NA NA NA ENST00000368586.5:c.1542T>C chr10.hg19:g.134735672A>G NA hg19 CCDS58101.1 0.02 4.660797 TGCxTTC COVERED NOVEL TTC40-001 PUTATIVE basic|appris_candidate_longest|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000051095.3 0 4.814372 KEEP 0 0 0 16 499 AA 0.997832 0.997831 0 - 5 60 188 0 0 12.037145 122 60 4506 181 ENST00000368586.5 0.03937 1 TTC40 0 __UNKNOWN__ __UNKNOWN__ 10 134738232 134738232 __UNKNOWN__ Silent SNP A A G rs4075501 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:134738232A>G ENST00000368586.5 - 11 1324 c.1224T>C c.(1222-1224)gcT>gcC p.A408A TTC40_ENST00000368582.2_Silent_p.A408A NM_001200049.2 NP_001186978.2 NA NA breast(1)|endometrium(5)|lung(19)|urinary_tract(3) 28 CCGCAACGCCAGCCAGGGGCT 0.677 NA G||| 2670 0.533147 0.7035 0.6153 5008 , , NA 16344 0.3512 NA 0.4722 False NA ,,, NA NA NA 2504 0.4949 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001819 synonymous_variant NA NA NA NA ENST00000368586.5:c.1224T>C chr10.hg19:g.134738232A>G NA hg19 CCDS58101.1 0.02 1.930007 GCCxGCC COVERED NOVEL TTC40-001 PUTATIVE basic|appris_candidate_longest|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000051095.3 0 3.009356 KEEP 0 0 0 10 320 AA 0.992708 0.991184 0 - 4 60 144 0 0 9.528953 71 60 2606 105 ENST00000368586.5 0.053333 0.998465 TTC40 0 __UNKNOWN__ __UNKNOWN__ 10 134740618 134740618 __UNKNOWN__ Intron SNP G G C rs7071677 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:134740618G>C ENST00000368586.5 - 10 1067 TTC40_ENST00000368582.2_Intron NM_001200049.2 NP_001186978.2 NA NA breast(1)|endometrium(5)|lung(19)|urinary_tract(3) 28 CCTTACAAAAGCTGGGGAGCA 0.602 NA G||| 1809 0.361222 0.2821 0.4986 5008 , , NA 16396 0.3383 NA 0.3449 False NA ,,, NA NA NA 2504 0.411 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000368586.5:c.967-448C>G chr10.hg19:g.134740618G>C NA hg19 CCDS58101.1 0.02 8.235446 AAAxCTG COVERED NOVEL TTC40-001 PUTATIVE basic|appris_candidate_longest|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000051095.3 0 6.621496 KEEP 0 0 0 22 774 GG 0.999879 0.999879 0 - 8 60 285 0 0 17.245241 222 60 8306 277 ENST00000368586.5 0.034783 1 GPR123 84435 __UNKNOWN__ __UNKNOWN__ 10 134912396 134912396 __UNKNOWN__ Intron SNP G G C rs538710978 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:134912396G>C ENST00000392607.3 + 4 691 GPR123_ENST00000607359.1_Intron NM_001083909.1 NP_001077378.1 Q86SQ6 GP123_HUMAN G protein-coupled receptor 123 NA NA G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3) 14 all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05) CTGGCACATCGGTGTCTCGGC 0.577 NA G||| 6 0.00119808 0.0 0.0 5008 , , NA 15851 0.006 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB058731 CCDS41580.1 10q26 2014-08-08 ENSG00000197177 ENSG00000197177 84435 -, GPCR / Class B : Orphans 13838 protein-coding gene gene with protein product 612302 NA 12565841 Standard XM_005252695 NA Approved KIAA1828 uc001llw.3 Q86SQ6 OTTHUMG00000019304 ENST00000392607.3:c.255+129G>C chr10.hg19:g.134912396G>C NA A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9 hg19 CCDS41580.1 0.02 3.224984 ATCxGTG COVERED NOVEL GPR123-003 NOVEL basic|appris_candidate|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000051113.2 0 5.116369 KEEP 0 0 0 17 577 GG 0.999859 0.999852 0 + 6 60 187 0 0 11.489327 103 60 3738 145 ENST00000392607.3 0.055046 0.999993 GPR123 84435 __UNKNOWN__ __UNKNOWN__ 10 134944613 134944613 __UNKNOWN__ 3'UTR SNP G G A rs3750873 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:134944613G>A ENST00000392607.3 + 0 3717 GPR123_ENST00000607359.1_3'UTR|GPR123_ENST00000392606.2_3'UTR NM_001083909.1 NP_001077378.1 Q86SQ6 GP123_HUMAN G protein-coupled receptor 123 NA NA G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3) 14 all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05) GAGGGGTGTCGGGGAGTGTTC 0.607 NA G||| 155 0.0309505 0.0 0.0115 5008 , , NA 22209 0.1369 NA 0.004 False NA ,,, NA NA NA 2504 0.0051 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB058731 CCDS41580.1 10q26 2014-08-08 ENSG00000197177 ENSG00000197177 84435 -, GPCR / Class B : Orphans 13838 protein-coding gene gene with protein product 612302 NA 12565841 Standard XM_005252695 NA Approved KIAA1828 uc001llw.3 Q86SQ6 OTTHUMG00000019304 ENST00000392607.3:c.*1598G>A chr10.hg19:g.134944613G>A NA A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9 hg19 CCDS41580.1 0.02 10.770438 GTCxGGG COVERED NOVEL GPR123-003 NOVEL basic|appris_candidate|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000051113.2 0 7.222272 KEEP 0 0 0 24 801 GG 0.999909 0.999909 0 + 14 60 502 0 0 32.474104 279 60 9472 371 ENST00000392607.3 0.047782 1 KNDC1 85442 __UNKNOWN__ __UNKNOWN__ 10 135010662 135010662 __UNKNOWN__ Intron SNP C C T rs6537590 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:135010662C>T ENST00000304613.3 + 11 1833 KNDC1_ENST00000368572.2_Intron|KNDC1_ENST00000368571.2_Intron Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) containing 1 NA NA cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264) dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025) protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088) NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 60 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) AGCCAGGCCGCCGCCTCCTCC 0.672 NA C||| 1022 0.204073 0.1543 0.3256 5008 , , NA 14421 0.1111 NA 0.3429 False NA ,,, NA NA NA 2504 0.138 NA NA NA NA 0 C 739,3665 286.6+/-278.8 55,629,1518 38 30 33 1.1 0 10 dbSNP_116 33 2800,5798 413.2+/-351.0 456,1888,1955 no intron KNDC1 NM_152643.6 511,2517,3473 TT,TC,CC 32.5657,16.7802,27.2189 135010662 3539,9463 2202 4299 6501 SO:0001627 intron_variant AK074179 CCDS7674.1 10q26.3 2004-09-14 2004-04-07 ENSG00000171798 ENSG00000171798 85442 29374 protein-coding gene gene with protein product RasGEF domain family, member 2 RASGEF2, C10orf23 NA 11214970 Standard NM_152643 NM_152643 NA Approved KIAA1768, bB439H18.3, FLJ25027 uc001llz.1 Q76NI1 OTTHUMG00000019303 ENST00000304613.3:c.1812+23C>T chr10.hg19:g.135010662C>T NA B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095 hg19 CCDS7674.1 0.02 4.228532 CCGxCGC COVERED NOVEL KNDC1-006 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000277044.3 0 7.223857 KEEP 0 0 0 24 878 CC 0.999909 0.9999 0 + 10 60 332 0 0 23.515686 98 60 3512 155 ENST00000304613.3 0.092593 0.999991 KNDC1 85442 __UNKNOWN__ __UNKNOWN__ 10 135038088 135038088 __UNKNOWN__ Intron SNP C C T rs11597218 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:135038088C>T ENST00000304613.3 + 30 5039 KNDC1_ENST00000368572.2_Intron Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) containing 1 NA NA cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264) dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025) protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088) NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 60 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) CCTAAGAACGCGGGGGGACTC 0.522 NA C||| 1106 0.220847 0.1657 0.3746 5008 , , NA 17165 0.0139 NA 0.4493 False NA ,,, NA NA NA 2504 0.1646 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK074179 CCDS7674.1 10q26.3 2004-09-14 2004-04-07 ENSG00000171798 ENSG00000171798 85442 29374 protein-coding gene gene with protein product RasGEF domain family, member 2 RASGEF2, C10orf23 NA 11214970 Standard NM_152643 NM_152643 NA Approved KIAA1768, bB439H18.3, FLJ25027 uc001llz.1 Q76NI1 OTTHUMG00000019303 ENST00000304613.3:c.5019-75C>T chr10.hg19:g.135038088C>T NA B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095 hg19 CCDS7674.1 0.02 4.030649 ACGxGGG COVERED NOVEL KNDC1-006 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000277044.3 2 8.426663 KEEP 0 0 0 28 962 CC 0.999997 0.999997 0 + 11 60 382 0 0 26.649935 131 60 4776 185 ENST00000304613.3 0.077465 1 RP11-108K14.8 0 __UNKNOWN__ __UNKNOWN__ 10 135213263 135213263 __UNKNOWN__ Intron SNP T T C rs2814206 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:135213263T>C ENST00000468317.2 + 7 781 MTG1_ENST00000317502.6_Intron|MTG1_ENST00000477902.2_Intron NA NA NA CCAGAGCACATCTTGTCTCGT 0.522 NA t||| 2726 0.544329 0.3041 0.5821 5008 , , NA 17489 0.6319 NA 0.7227 False NA ,,, NA NA NA 2504 0.5685 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000468317.2:c.526+140T>C chr10.hg19:g.135213263T>C NA hg19 0.02 4.297272 ACAxCTT COVERED NOVEL RP11-108K14.8-001 PUTATIVE non_canonical_U12|basic|appris_principal|readthrough_transcript|exp_conf protein_coding NA protein_coding OTTHUMT00000390432.1 0 5.113846 KEEP 0 0 0 17 534 TT 0.999366 0.999366 0 + 7 60 258 0 0 17.479629 116 60 4110 146 ENST00000468317.2 0.056911 0.999999 SPRN 503542 __UNKNOWN__ __UNKNOWN__ 10 135269982 135269982 __UNKNOWN__ Intron SNP C C T rs78948951 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:135269982C>T ENST00000541506.1 - 2 141 RP11-108K14.4_ENST00000482993.2_RNA Q5BIV9 SPRN_HUMAN shadow of prion protein homolog (zebrafish) NA NA protein import into nucleus (GO:0006606) anchored component of membrane (GO:0031225)|cytosol (GO:0005829)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|vesicle (GO:0031982) nucleic acid binding (GO:0003676) NA all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) ACGAGTCCTCCCTCTGGGAGT 0.677 NA C||| 96 0.0191693 0.0 0.0 5008 , , NA 18452 0.0833 NA 0.0 False NA ,,, NA NA NA 2504 0.0123 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS53589.1 10q26.3 2011-02-09 ENSG00000203772 ENSG00000203772 503542 16871 protein-coding gene gene with protein product hypothetical protein BC004409 610447 NA 14527721 Standard NM_001012508 NM_001012508 NA Approved Shadoo, Sprn, bA108K14.1, FLJ41197 uc001lnf.4 Q5BIV9 OTTHUMG00000019324 ENST00000541506.1:c.16-32781G>A chr10.hg19:g.135269982C>T NA hg19 CCDS53589.1 0.02 1.663647 CTCxCTC COVERED 31 0.014194139194139194 0 0.0 0 0.0 31 0.05419580419580419 0 0.0 C 7.336 0.620015 0.14193 . . ENSG00000214279 ENST00000438496 . . . 5.0 -6.28 0.02020 . . . . . T 0.02455 0.0075 . . . 0.09310 N 1 . . . . . . T 0.20174 -1.0283 4 . . . . 1.9071 0.03279 0.1963:0.2422:0.1026:0.4589 . . . . L 9 . . P + 2 0 RP11-108K14.4 135119972 0.000000 0.05858 0.000000 0.03702 0.134000 0.20937 -1.032000 0.03574 -1.221000 0.02591 -1.548000 0.00902 CCC NOVEL SPRN-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000051175.2 1 3.009041 KEEP 0 0 0 10 341 CC 0.992708 0.992616 0 - 7 60 249 0 0 17.423235 87 60 3159 123 ENST00000541506.1 0.074468 0.999907 CYP2E1 1571 __UNKNOWN__ __UNKNOWN__ 10 135352509 135352509 __UNKNOWN__ 3'UTR SNP T T A rs2480257 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:135352509T>A ENST00000463117.2 + 0 1795 CYP2E1_ENST00000252945.3_3'UTR|SPRN_ENST00000541506.1_Intron P05181 CP2E1_HUMAN cytochrome P450, family 2, subfamily E, polypeptide 1 NA NA drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to organonitrogen compound (GO:0010243)|response to ozone (GO:0010193)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|triglyceride metabolic process (GO:0006641)|xenobiotic metabolic process (GO:0006805) endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|mitochondrion (GO:0005739) enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825) NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) Acetaminophen(DB00316)|Aldesleukin(DB00041)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminophylline(DB01223)|Amitriptyline(DB00321)|Antipyrine(DB01435)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupropion(DB01156)|Caffeine(DB00201)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Citalopram(DB00215)|Clevidipine(DB04920)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonazepam(DB01068)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Dacarbazine(DB00851)|Dalfampridine(DB06637)|Dapsone(DB00250)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Disulfiram(DB00822)|Econazole(DB01127)|Enflurane(DB00228)|Enfuvirtide(DB00109)|Estrone(DB00655)|Ethanol(DB00898)|Ethanolamine Oleate(DB06689)|Ethosuximide(DB00593)|Etoposide(DB00773)|Etoricoxib(DB01628)|Felbamate(DB00949)|Fingolimod(DB08868)|Flunitrazepam(DB01544)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluvoxamine(DB00176)|Folic Acid(DB00158)|Fomepizole(DB01213)|Glucosamine(DB01296)|Halothane(DB01159)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imipramine(DB00458)|Isoflurane(DB00753)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Itraconazole(DB01167)|Menadione(DB00170)|Meprobamate(DB00371)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Mexiletine(DB00379)|Miconazole(DB01110)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nitrazepam(DB01595)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Orphenadrine(DB01173)|Oxaliplatin(DB00526)|Paramethadione(DB00617)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Pimozide(DB01100)|Proguanil(DB01131)|Propofol(DB00818)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rufinamide(DB06201)|S-Adenosylmethionine(DB00118)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulfadiazine(DB00359)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiopental(DB00599)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Ursodeoxycholic acid(DB01586)|Zafirlukast(DB00549)|Zopiclone(DB01198) TTCAAACAAGTTTTCAAATTG 0.393 NA Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of T||| 2519 0.502995 0.1293 0.6369 5008 , , NA 17542 0.5258 NA 0.7654 False NA ,,, NA NA NA 2504 0.6196 NA NA NA NA 0 T 919,3487 340.2+/-306.1 91,737,1375 37 35 36 0.6 0 10 dbSNP_100 36 6818,1782 723.2+/-406.4 2686,1446,168 no utr-3 CYP2E1 NM_000773.3 2777,2183,1543 AA,AT,TT 20.7209,20.8579,40.5121 135352509 7737,5269 2203 4300 6503 SO:0001624 3_prime_UTR_variant Familial Cancer Database incl.: Familial Head and Neck Cancer J02843 CCDS7686.1 10q26.3 2013-05-03 2003-01-14 2002-09-13 ENSG00000130649 ENSG00000130649 1571 Cytochrome P450s 2631 protein-coding gene gene with protein product 124040 cytochrome P450, subfamily IIE (ethanol-inducible), polypeptide 1 CYP2E NA Standard NM_000773 NM_000773 NA Approved uc001lnj.1 P05181 OTTHUMG00000019322 ENST00000463117.2:c.*41T>A chr10.hg19:g.135352509T>A NA Q5VZD5|Q6NWT9|Q9UK47 hg19 CCDS7686.1 0.02 3.7954 AAGxTTT COVERED NOVEL CYP2E1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000051161.2 2 5.416668 KEEP 0 0 0 18 590 TT 0.999859 0.999859 0 + 8 60 292 0 0 19.553789 138 60 4873 174 ENST00000463117.2 0.054795 1 CYP2E1 1571 __UNKNOWN__ __UNKNOWN__ 10 135352514 135352514 __UNKNOWN__ 3'UTR SNP A A G rs2480256 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:135352514A>G ENST00000463117.2 + 0 1800 CYP2E1_ENST00000252945.3_3'UTR|SPRN_ENST00000541506.1_Intron P05181 CP2E1_HUMAN cytochrome P450, family 2, subfamily E, polypeptide 1 NA NA drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to organonitrogen compound (GO:0010243)|response to ozone (GO:0010193)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|triglyceride metabolic process (GO:0006641)|xenobiotic metabolic process (GO:0006805) endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|mitochondrion (GO:0005739) enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825) NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) Acetaminophen(DB00316)|Aldesleukin(DB00041)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminophylline(DB01223)|Amitriptyline(DB00321)|Antipyrine(DB01435)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupropion(DB01156)|Caffeine(DB00201)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Citalopram(DB00215)|Clevidipine(DB04920)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonazepam(DB01068)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Dacarbazine(DB00851)|Dalfampridine(DB06637)|Dapsone(DB00250)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Disulfiram(DB00822)|Econazole(DB01127)|Enflurane(DB00228)|Enfuvirtide(DB00109)|Estrone(DB00655)|Ethanol(DB00898)|Ethanolamine Oleate(DB06689)|Ethosuximide(DB00593)|Etoposide(DB00773)|Etoricoxib(DB01628)|Felbamate(DB00949)|Fingolimod(DB08868)|Flunitrazepam(DB01544)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluvoxamine(DB00176)|Folic Acid(DB00158)|Fomepizole(DB01213)|Glucosamine(DB01296)|Halothane(DB01159)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imipramine(DB00458)|Isoflurane(DB00753)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Itraconazole(DB01167)|Menadione(DB00170)|Meprobamate(DB00371)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Mexiletine(DB00379)|Miconazole(DB01110)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nitrazepam(DB01595)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Orphenadrine(DB01173)|Oxaliplatin(DB00526)|Paramethadione(DB00617)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Pimozide(DB01100)|Proguanil(DB01131)|Propofol(DB00818)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rufinamide(DB06201)|S-Adenosylmethionine(DB00118)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulfadiazine(DB00359)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiopental(DB00599)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Ursodeoxycholic acid(DB01586)|Zafirlukast(DB00549)|Zopiclone(DB01198) ACAAGTTTTCAAATTGTTTGA 0.393 NA Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of G||| 2716 0.542332 0.2731 0.6499 5008 , , NA 17626 0.5248 NA 0.7654 False NA ,,, NA NA NA 2504 0.6186 NA NA NA NA 0 G 1394,3012 658.8+/-400.5 199,996,1008 35 31 32 -1 0 10 dbSNP_100 32 6819,1781 304.1+/-306.8 2688,1443,169 no utr-3 CYP2E1 NM_000773.3 2887,2439,1177 GG,GA,AA 20.7093,31.6387,36.8522 135352514 8213,4793 2203 4300 6503 SO:0001624 3_prime_UTR_variant Familial Cancer Database incl.: Familial Head and Neck Cancer J02843 CCDS7686.1 10q26.3 2013-05-03 2003-01-14 2002-09-13 ENSG00000130649 ENSG00000130649 1571 Cytochrome P450s 2631 protein-coding gene gene with protein product 124040 cytochrome P450, subfamily IIE (ethanol-inducible), polypeptide 1 CYP2E NA Standard NM_000773 NM_000773 NA Approved uc001lnj.1 P05181 OTTHUMG00000019322 ENST00000463117.2:c.*46A>G chr10.hg19:g.135352514A>G NA Q5VZD5|Q6NWT9|Q9UK47 hg19 CCDS7686.1 0.02 3.912701 TTCxAAT COVERED NOVEL CYP2E1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000051161.2 2 5.114723 KEEP 0 0 0 17 514 AA 0.999366 0.999366 0 + 9 60 320 0 0 21.678354 135 60 4817 171 ENST00000463117.2 0.0625 1 SPRN 503542 __UNKNOWN__ __UNKNOWN__ 10 135381592 135381592 __UNKNOWN__ Intron SNP C C G rs3020501 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:135381592C>G ENST00000541506.1 - 1 141 SYCE1_ENST00000432597.2_Intron|SYCE1_ENST00000368517.3_Intron Q5BIV9 SPRN_HUMAN shadow of prion protein homolog (zebrafish) NA NA protein import into nucleus (GO:0006606) anchored component of membrane (GO:0031225)|cytosol (GO:0005829)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|vesicle (GO:0031982) nucleic acid binding (GO:0003676) NA all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) CGAGCCCAGCCAGGCCTAGGG 0.731 NA .||| 2549 0.508986 0.1369 0.6369 5008 , , NA 12345 0.5327 NA 0.7654 False NA ,,, NA NA NA 2504 0.6329 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS53589.1 10q26.3 2011-02-09 ENSG00000203772 ENSG00000203772 503542 16871 protein-coding gene gene with protein product hypothetical protein BC004409 610447 NA 14527721 Standard NM_001012508 NM_001012508 NA Approved Shadoo, Sprn, bA108K14.1, FLJ41197 uc001lnf.4 Q5BIV9 OTTHUMG00000019324 ENST00000541506.1:c.15+1183G>C chr10.hg19:g.135381592C>G NA hg19 CCDS53589.1 0.02 5.109987 AGCxAGG COVERED NOVEL SPRN-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000051175.2 2 2.979203 KEEP 0 2 63 32 1115 CC 0.999998 0.999998 0 - 7 60 217 0 0 12.676112 148 60 5348 211 ENST00000541506.1 0.045161 1 FRG2B 441581 __UNKNOWN__ __UNKNOWN__ 10 135439220 135439220 __UNKNOWN__ Intron SNP C C T rs138977113 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:135439220C>T ENST00000425520.1 - 4 384 FRG2B_ENST00000443774.1_Intron NM_001080998.1 NP_001074467.1 Q96QU4 FRG2B_HUMAN FSHD region gene 2 family, member B NA NA nucleus (GO:0005634) endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1) 20 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) TCCTTCCTGACCATCTCAGCA 0.498 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY744466 CCDS44502.1 10q26.3 2012-10-02 ENSG00000225899 ENSG00000225899 441581 33518 protein-coding gene gene with protein product NA 15520407 Standard NM_001080998 NM_001080998 NA Approved uc010qvg.2 Q96QU4 OTTHUMG00000019328 ENST00000425520.1:c.332-112G>A chr10.hg19:g.135439220C>T NA Q5VSQ1 hg19 CCDS44502.1 0.02 4.331926 TGAxCAT UNCOVERED NOVEL FRG2B-002 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000467780.1 5 2.708068 KEEP 24 0 0 9 300 CC 0 0 0 - 6 45 210 0 0 13.714852 106 50 3771 181 ENST00000425520.1 0.053571 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 135455197 135455197 __UNKNOWN__ IGR SNP C C T rs200528295 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:135455197C>T NA NA FRG2B (14898 upstream) : AL845259.1 (17886 downstream) NA NA NA CAAGCTGCAACGGGAAAGACA 0.343 NA .||| 1977 0.394768 0.4342 0.4352 5008 , , NA 21702 0.3651 NA 0.4155 False NA ,,, NA NA NA 2504 0.3221 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.135455197C>T NA hg19 0.02 -0.386015 CAAxGGG COVERED NOVEL 0 0 3.009797 KEEP 1 0 0 10 351 CC 0.992708 0.911475 0 11 60 399 0 0 34.529582 32 60 1193 65 0.255814 0.918171 Unknown 0 __UNKNOWN__ __UNKNOWN__ 10 135501071 135501071 __UNKNOWN__ IGR SNP C C T rs143278110 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr10:135501071C>T NA NA AL845259.1 (27892 upstream) : None (None downstream) NA NA NA gccacaatgccgccagtaggc 0.483 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr10.hg19:g.135501071C>T NA hg19 0.02 1.977183 TGCxGCC COVERED NOVEL 0 16 3.611605 KEEP 9 0 0 12 409 CC 0.993634 0.993044 0 4 49 154 0 0 12.612595 20 49 722 131 0.166667 0.999407